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EmVClass

NTD Genetics' Variant Classification Catalog

Please enter the official gene symbol and click Search to see all the variants that have been seen and analyzed by NTD Genetics for that gene.
NTD Genetics classification definitions may be reviewed here.
You may submit a question regarding a variant by clicking the appropriate button on the returned data table.
You may prompt a review of a variant of unknown signifigance (VOUS) reviewed greater than six months ago by clicking the appropriate button on the returned data table.
If a reported variant has changed classification, you may request an amended report by clicking here.
OrderGeneExonNucleotide ChangeProtein ChangeAlias ListingClassificationLast Reviewed  
1NEBEx4NM_001271208.1:c.61G>Ap.Glu21Lys | p.E21KLRG_202t1:c.61G>A, NM_001164507.1:c.61G>A, NM_001164508.1:c.61G>A, NM_001271208.1:c.61G>A, NM_004543.3:c.61G>A, NM_004543.4:c.61G>A, XM_005246590.1:c.61G>A, XM_005246591.1:c.61G>A, XM_005246592.1:c.61G>A, XM_005246593.1:c.61G>A, XM_005246594.1:c.61G>A, XM_005246595.1:c.61G>A, XM_005246596.1:c.61G>A, XM_005246597.1:c.61G>A, XM_005246598.1:c.61G>A, XM_005246599.1:c.61G>A, XM_005246600.1:c.61G>A, XM_005246601.1:c.61G>A, XM_005246602.1:c.61G>A, XM_005246603.1:c.61G>A, XM_005246604.1:c.61G>A, XM_005246605.1:c.61G>A, XM_005246606.1:c.61G>A, XM_005246607.1:c.61G>A, XM_005246608.1:c.61G>A, XM_005246609.1:c.61G>A, XM_005246610.1:c.61G>A, XM_005246611.1:c.61G>A, XM_005246612.1:c.61G>A, XM_005246613.1:c.61G>A, XM_005246614.1:c.61G>A, XM_005246615.1:c.61G>A, XM_005246616.1:c.61G>A, XM_005246617.1:c.61G>AVOUS06/13/2018
2NEBEx12NM_001271208.1:c.966G>Tp.Gln322His | p.Q322HLRG_202t1:c.966G>T, NM_001164507.1:c.966G>T, NM_001164508.1:c.966G>T, NM_001271208.1:c.966G>T, NM_004543.3:c.966G>T, NM_004543.4:c.966G>T, XM_005246590.1:c.966G>T, XM_005246591.1:c.966G>T, XM_005246592.1:c.966G>T, XM_005246593.1:c.966G>T, XM_005246594.1:c.966G>T, XM_005246595.1:c.966G>T, XM_005246596.1:c.966G>T, XM_005246597.1:c.966G>T, XM_005246598.1:c.966G>T, XM_005246599.1:c.966G>T, XM_005246600.1:c.966G>T, XM_005246601.1:c.966G>T, XM_005246602.1:c.966G>T, XM_005246603.1:c.966G>T, XM_005246604.1:c.966G>T, XM_005246605.1:c.966G>T, XM_005246606.1:c.966G>T, XM_005246607.1:c.966G>T, XM_005246608.1:c.966G>T, XM_005246609.1:c.966G>T, XM_005246610.1:c.966G>T, XM_005246611.1:c.966G>T, XM_005246612.1:c.966G>T, XM_005246613.1:c.966G>T, XM_005246614.1:c.966G>T, XM_005246615.1:c.966G>T, XM_005246616.1:c.966G>T, XM_005246617.1:c.966G>TVOUS01/11/2017
3NEBEx12NM_001271208.1:c.994G>Ap.Glu332Lys | p.E332KNM_001164507.1:c.994G>A, NM_001164508.1:c.994G>A, NM_001271208.1:c.994G>A, NM_004543.3:c.994G>A, NM_004543.4:c.994G>A, XM_005246590.1:c.994G>A, XM_005246591.1:c.994G>A, XM_005246592.1:c.994G>A, XM_005246593.1:c.994G>A, XM_005246594.1:c.994G>A, XM_005246595.1:c.994G>A, XM_005246596.1:c.994G>A, XM_005246597.1:c.994G>A, XM_005246598.1:c.994G>A, XM_005246599.1:c.994G>A, XM_005246600.1:c.994G>A, XM_005246601.1:c.994G>A, XM_005246602.1:c.994G>A, XM_005246603.1:c.994G>A, XM_005246604.1:c.994G>A, XM_005246605.1:c.994G>A, XM_005246606.1:c.994G>A, XM_005246607.1:c.994G>A, XM_005246608.1:c.994G>A, XM_005246609.1:c.994G>A, XM_005246610.1:c.994G>A, XM_005246611.1:c.994G>A, XM_005246612.1:c.994G>A, XM_005246613.1:c.994G>A, XM_005246614.1:c.994G>A, XM_005246615.1:c.994G>A, XM_005246616.1:c.994G>A, XM_005246617.1:c.994G>AVOUS01/05/2016
4NEBEx15NM_001271208.1:c.1258-7C>GLRG_202t1:c.1258-7C>G, NM_001164507.1:c.1258-7C>G, NM_001164508.1:c.1258-7C>G, NM_001271208.1:c.1258-7C>G, NM_004543.3:c.1258-7C>G, NM_004543.4:c.1258-7C>G, XM_005246590.1:c.1258-7C>G, XM_005246591.1:c.1258-7C>G, XM_005246592.1:c.1258-7C>G, XM_005246593.1:c.1258-7C>G, XM_005246594.1:c.1258-7C>G, XM_005246595.1:c.1258-7C>G, XM_005246596.1:c.1258-7C>G, XM_005246597.1:c.1258-7C>G, XM_005246598.1:c.1258-7C>G, XM_005246599.1:c.1258-7C>G, XM_005246600.1:c.1258-7C>G, XM_005246601.1:c.1258-7C>G, XM_005246602.1:c.1258-7C>G, XM_005246603.1:c.1258-7C>G, XM_005246604.1:c.1258-7C>G, XM_005246605.1:c.1258-7C>G, XM_005246606.1:c.1258-7C>G, XM_005246607.1:c.1258-7C>G, XM_005246608.1:c.1258-7C>G, XM_005246609.1:c.1258-7C>G, XM_005246610.1:c.1258-7C>G, XM_005246611.1:c.1258-7C>G, XM_005246612.1:c.1258-7C>G, XM_005246613.1:c.1258-7C>G, XM_005246614.1:c.1258-7C>G, XM_005246615.1:c.1258-7C>G, XM_005246616.1:c.1258-7C>G, XM_005246617.1:c.1258-7C>GVOUS10/06/2017
5NEBEx33NM_001271208.1:c.3444G>Ap.Ala1148= | p.A1148=LRG_202t1:c.3444G>A, NM_001164507.1:c.3444G>A, NM_001164508.1:c.3444G>A, NM_001271208.1:c.3444G>A, NM_004543.3:c.3444G>A, NM_004543.4:c.3444G>A, XM_005246590.1:c.3444G>A, XM_005246591.1:c.3444G>A, XM_005246592.1:c.3444G>A, XM_005246593.1:c.3444G>A, XM_005246594.1:c.3444G>A, XM_005246595.1:c.3444G>A, XM_005246596.1:c.3444G>A, XM_005246597.1:c.3444G>A, XM_005246598.1:c.3444G>A, XM_005246599.1:c.3444G>A, XM_005246600.1:c.3444G>A, XM_005246601.1:c.3444G>A, XM_005246602.1:c.3444G>A, XM_005246603.1:c.3444G>A, XM_005246604.1:c.3444G>A, XM_005246605.1:c.3444G>A, XM_005246606.1:c.3444G>A, XM_005246607.1:c.3444G>A, XM_005246608.1:c.3444G>A, XM_005246609.1:c.3444G>A, XM_005246610.1:c.3444G>A, XM_005246611.1:c.3444G>A, XM_005246612.1:c.3444G>A, XM_005246613.1:c.3444G>A, XM_005246614.1:c.3444G>A, XM_005246615.1:c.3444G>A, XM_005246616.1:c.3444G>A, XM_005246617.1:c.3444G>AVOUS05/01/2019
6NEBEx45NM_001271208.1:c.5696C>Tp.Thr1899Ile | p.T1899ILRG_202t1:c.5696C>T, NM_001164507.1:c.5696C>T, NM_001164508.1:c.5696C>T, NM_001271208.1:c.5696C>T, NM_004543.3:c.5696C>T, NM_004543.4:c.5696C>T, XM_005246590.1:c.5696C>T, XM_005246591.1:c.5696C>T, XM_005246592.1:c.5696C>T, XM_005246593.1:c.5696C>T, XM_005246594.1:c.5696C>T, XM_005246595.1:c.5696C>T, XM_005246596.1:c.5696C>T, XM_005246597.1:c.5696C>T, XM_005246598.1:c.5696C>T, XM_005246599.1:c.5696C>T, XM_005246600.1:c.5696C>T, XM_005246601.1:c.5696C>T, XM_005246602.1:c.5696C>T, XM_005246603.1:c.5696C>T, XM_005246604.1:c.5696C>T, XM_005246605.1:c.5696C>T, XM_005246606.1:c.5696C>T, XM_005246607.1:c.5696C>T, XM_005246608.1:c.5696C>T, XM_005246609.1:c.5696C>T, XM_005246610.1:c.5696C>T, XM_005246611.1:c.5696C>T, XM_005246612.1:c.5696C>T, XM_005246613.1:c.5696C>T, XM_005246614.1:c.5696C>T, XM_005246615.1:c.5696C>T, XM_005246616.1:c.5696C>T, XM_005246617.1:c.5696C>TVOUS01/11/2017
7NEBEx49NM_001271208.1:c.6486A>Gp.Ile2162Met | p.I2162MLRG_202t1:c.6486A>G, NM_001164507.1:c.6486A>G, NM_001164508.1:c.6486A>G, NM_001271208.1:c.6486A>G, NM_004543.3:c.6486A>G, NM_004543.4:c.6486A>G, XM_005246590.1:c.6486A>G, XM_005246591.1:c.6486A>G, XM_005246592.1:c.6486A>G, XM_005246593.1:c.6486A>G, XM_005246594.1:c.6486A>G, XM_005246595.1:c.6486A>G, XM_005246596.1:c.6486A>G, XM_005246597.1:c.6486A>G, XM_005246598.1:c.6486A>G, XM_005246599.1:c.6486A>G, XM_005246600.1:c.6486A>G, XM_005246601.1:c.6486A>G, XM_005246602.1:c.6486A>G, XM_005246603.1:c.6486A>G, XM_005246604.1:c.6486A>G, XM_005246605.1:c.6486A>G, XM_005246606.1:c.6486A>G, XM_005246607.1:c.6486A>G, XM_005246608.1:c.6486A>G, XM_005246609.1:c.6486A>G, XM_005246610.1:c.6486A>G, XM_005246611.1:c.6486A>G, XM_005246612.1:c.6486A>G, XM_005246613.1:c.6486A>G, XM_005246614.1:c.6486A>G, XM_005246615.1:c.6486A>G, XM_005246616.1:c.6486A>G, XM_005246617.1:c.6486A>GVOUS10/06/2017
8NEBEx50NM_001271208.1:c.6631T>Cp.Phe2211Leu | p.F2211LLRG_202t1:c.6631T>C, NM_001164507.1:c.6631T>C, NM_001164508.1:c.6631T>C, NM_001271208.1:c.6631T>C, NM_004543.3:c.6631T>C, NM_004543.4:c.6631T>C, XM_005246590.1:c.6631T>C, XM_005246591.1:c.6631T>C, XM_005246592.1:c.6631T>C, XM_005246593.1:c.6631T>C, XM_005246594.1:c.6631T>C, XM_005246595.1:c.6631T>C, XM_005246596.1:c.6631T>C, XM_005246597.1:c.6631T>C, XM_005246598.1:c.6631T>C, XM_005246599.1:c.6631T>C, XM_005246600.1:c.6631T>C, XM_005246601.1:c.6631T>C, XM_005246602.1:c.6631T>C, XM_005246603.1:c.6631T>C, XM_005246604.1:c.6631T>C, XM_005246605.1:c.6631T>C, XM_005246606.1:c.6631T>C, XM_005246607.1:c.6631T>C, XM_005246608.1:c.6631T>C, XM_005246609.1:c.6631T>C, XM_005246610.1:c.6631T>C, XM_005246611.1:c.6631T>C, XM_005246612.1:c.6631T>C, XM_005246613.1:c.6631T>C, XM_005246614.1:c.6631T>C, XM_005246615.1:c.6631T>C, XM_005246616.1:c.6631T>C, XM_005246617.1:c.6631T>CVOUS06/12/2017
9NEBEx58NM_001271208.1:c.8031_8041delAAATAAACGAGp.Lys2677Asnfs*7 | p.K2677NfsX7LRG_202t1:c.8031_8041delAAATAAACGAG, NM_001164507.1:c.8031_8041delAAATAAACGAG, NM_001164508.1:c.8031_8041delAAATAAACGAG, NM_001271208.1:c.8031_8041delAAATAAACGAG, NM_004543.3:c.8031_8041delAAATAAACGAG, NM_004543.4:c.8031_8041delAAATAAACGAG, XM_005246590.1:c.8031_8041delAAATAAACGAG, XM_005246591.1:c.8031_8041delAAATAAACGAG, XM_005246592.1:c.8031_8041delAAATAAACGAG, XM_005246593.1:c.8031_8041delAAATAAACGAG, XM_005246594.1:c.8031_8041delAAATAAACGAG, XM_005246595.1:c.8031_8041delAAATAAACGAG, XM_005246596.1:c.8031_8041delAAATAAACGAG, XM_005246597.1:c.8031_8041delAAATAAACGAG, XM_005246598.1:c.8031_8041delAAATAAACGAG, XM_005246599.1:c.8031_8041delAAATAAACGAG, XM_005246600.1:c.8031_8041delAAATAAACGAG, XM_005246601.1:c.8031_8041delAAATAAACGAG, XM_005246602.1:c.8031_8041delAAATAAACGAG, XM_005246603.1:c.8031_8041delAAATAAACGAG, XM_005246604.1:c.8031_8041delAAATAAACGAG, XM_005246605.1:c.8031_8041delAAATAAACGAG, XM_005246606.1:c.8031_8041delAAATAAACGAG, XM_005246607.1:c.8031_8041delAAATAAACGAG, XPathogenic08/18/2017 
10NEBEx58NM_001271208.1:c.8072G>Ap.Arg2691His | p.R2691HLRG_202t1:c.8072G>A, NM_001164507.1:c.8072G>A, NM_001164508.1:c.8072G>A, NM_001271208.1:c.8072G>A, NM_004543.3:c.8072G>A, NM_004543.4:c.8072G>A, XM_005246590.1:c.8072G>A, XM_005246591.1:c.8072G>A, XM_005246592.1:c.8072G>A, XM_005246593.1:c.8072G>A, XM_005246594.1:c.8072G>A, XM_005246595.1:c.8072G>A, XM_005246596.1:c.8072G>A, XM_005246597.1:c.8072G>A, XM_005246598.1:c.8072G>A, XM_005246599.1:c.8072G>A, XM_005246600.1:c.8072G>A, XM_005246601.1:c.8072G>A, XM_005246602.1:c.8072G>A, XM_005246603.1:c.8072G>A, XM_005246604.1:c.8072G>A, XM_005246605.1:c.8072G>A, XM_005246606.1:c.8072G>A, XM_005246607.1:c.8072G>A, XM_005246608.1:c.8072G>A, XM_005246609.1:c.8072G>A, XM_005246610.1:c.8072G>A, XM_005246611.1:c.8072G>A, XM_005246612.1:c.7956+580G>A, XM_005246613.1:c.7746+790G>A, XM_005246614.1:c.8072G>A, XM_005246615.1:c.8072G>A, XM_005246616.1:c.8072G>A, XM_005246617.1:c.8072G>A, XM_005246618.1:c.-19+835G>ALikely benign02/09/2017 
11NEBEx62NM_001271208.1:c.8799T>Cp.Tyr2933= | p.Y2933=LRG_202t1:c.8799T>C, NM_001164507.1:c.8799T>C, NM_001164508.1:c.8799T>C, NM_001271208.1:c.8799T>C, NM_004543.3:c.8799T>C, NM_004543.4:c.8799T>C, XM_005246590.1:c.8799T>C, XM_005246591.1:c.8799T>C, XM_005246592.1:c.8799T>C, XM_005246593.1:c.8799T>C, XM_005246594.1:c.8799T>C, XM_005246595.1:c.8799T>C, XM_005246596.1:c.8799T>C, XM_005246597.1:c.8799T>C, XM_005246598.1:c.8799T>C, XM_005246599.1:c.8799T>C, XM_005246600.1:c.8799T>C, XM_005246601.1:c.8799T>C, XM_005246602.1:c.8799T>C, XM_005246603.1:c.8799T>C, XM_005246604.1:c.8799T>C, XM_005246605.1:c.8799T>C, XM_005246606.1:c.8799T>C, XM_005246607.1:c.8799T>C, XM_005246608.1:c.8799T>C, XM_005246609.1:c.8799T>C, XM_005246610.1:c.8799T>C, XM_005246611.1:c.8799T>C, XM_005246612.1:c.8070T>C, XM_005246613.1:c.8070T>C, XM_005246614.1:c.8799T>C, XM_005246615.1:c.8799T>C, XM_005246616.1:c.8799T>C, XM_005246617.1:c.8799T>C, XM_005246618.1:c.-19+4126T>CVOUS10/06/2017
12NEBEx63NM_001271208.1:c.8890C>Tp.Arg2964Cys | p.R2964CLRG_202t1:c.8890C>T, NM_001164507.1:c.8890C>T, NM_001164508.1:c.8890C>T, NM_001271208.1:c.8890C>T, NM_004543.3:c.8853+509C>T, NM_004543.4:c.8853+509C>T, XM_005246590.1:c.8890C>T, XM_005246591.1:c.8890C>T, XM_005246592.1:c.8890C>T, XM_005246593.1:c.8890C>T, XM_005246594.1:c.8890C>T, XM_005246595.1:c.8890C>T, XM_005246596.1:c.8890C>T, XM_005246597.1:c.8890C>T, XM_005246598.1:c.8890C>T, XM_005246599.1:c.8890C>T, XM_005246600.1:c.8890C>T, XM_005246601.1:c.8890C>T, XM_005246602.1:c.8890C>T, XM_005246603.1:c.8890C>T, XM_005246604.1:c.8890C>T, XM_005246605.1:c.8890C>T, XM_005246606.1:c.8890C>T, XM_005246607.1:c.8890C>T, XM_005246608.1:c.8890C>T, XM_005246609.1:c.8890C>T, XM_005246610.1:c.8890C>T, XM_005246611.1:c.8890C>T, XM_005246612.1:c.8161C>T, XM_005246613.1:c.8161C>T, XM_005246614.1:c.8890C>T, XM_005246615.1:c.8890C>T, XM_005246616.1:c.8890C>T, XM_005246617.1:c.8890C>T, XM_005246618.1:c.-19+4689C>TVOUS12/10/2018
13NEBEx64NM_001271208.1:c.9071C>Tp.Ala3024Val | p.A3024VNM_001164507.1:c.9071C>T, NM_001164508.1:c.9071C>T, NM_001271208.1:c.9071C>T, NM_004543.3:c.8853+3635C>T, NM_004543.4:c.8853+3635C>T, XM_005246590.1:c.9071C>T, XM_005246591.1:c.9071C>T, XM_005246592.1:c.9071C>T, XM_005246593.1:c.9071C>T, XM_005246594.1:c.9071C>T, XM_005246595.1:c.9071C>T, XM_005246596.1:c.9071C>T, XM_005246597.1:c.9071C>T, XM_005246598.1:c.9071C>T, XM_005246599.1:c.9071C>T, XM_005246600.1:c.9071C>T, XM_005246601.1:c.9071C>T, XM_005246602.1:c.9071C>T, XM_005246603.1:c.9071C>T, XM_005246604.1:c.9071C>T, XM_005246605.1:c.9071C>T, XM_005246606.1:c.9071C>T, XM_005246607.1:c.9071C>T, XM_005246608.1:c.9071C>T, XM_005246609.1:c.9071C>T, XM_005246610.1:c.9071C>T, XM_005246611.1:c.9071C>T, XM_005246612.1:c.8342C>T, XM_005246613.1:c.8342C>T, XM_005246614.1:c.9071C>T, XM_005246615.1:c.9071C>T, XM_005246616.1:c.9071C>T, XM_005246617.1:c.9071C>T, XM_005246618.1:c.-19+7815C>TVOUS01/05/2016
14NEBEx65NM_001271208.1:c.9271G>Ap.Asp3091Asn | p.D3091NLRG_202t1:c.9271G>A, NM_001164507.1:c.9271G>A, NM_001164508.1:c.9271G>A, NM_001271208.1:c.9271G>A, NM_004543.3:c.8854-2619G>A, NM_004543.4:c.8854-2619G>A, XM_005246590.1:c.9271G>A, XM_005246591.1:c.9271G>A, XM_005246592.1:c.9271G>A, XM_005246593.1:c.9271G>A, XM_005246594.1:c.9271G>A, XM_005246595.1:c.9271G>A, XM_005246596.1:c.9271G>A, XM_005246597.1:c.9271G>A, XM_005246598.1:c.9271G>A, XM_005246599.1:c.9271G>A, XM_005246600.1:c.9271G>A, XM_005246601.1:c.9271G>A, XM_005246602.1:c.9271G>A, XM_005246603.1:c.9271G>A, XM_005246604.1:c.9271G>A, XM_005246605.1:c.9271G>A, XM_005246606.1:c.9271G>A, XM_005246607.1:c.9271G>A, XM_005246608.1:c.9271G>A, XM_005246609.1:c.9271G>A, XM_005246610.1:c.9271G>A, XM_005246611.1:c.9271G>A, XM_005246612.1:c.8542G>A, XM_005246613.1:c.8542G>A, XM_005246614.1:c.9271G>A, XM_005246615.1:c.9271G>A, XM_005246616.1:c.9271G>A, XM_005246617.1:c.9271G>A, XM_005246618.1:c.-18-6020G>AVOUS11/21/2018
15NEBEx68NM_001271208.1:c.9820G>Ap.Val3274Ile | p.V3274ILRG_202t1:c.9820G>A, NM_001164507.1:c.9820G>A, NM_001164508.1:c.9820G>A, NM_001271208.1:c.9820G>A, NM_004543.3:c.9091G>A, NM_004543.4:c.9091G>A, XM_005246590.1:c.9820G>A, XM_005246591.1:c.9820G>A, XM_005246592.1:c.9820G>A, XM_005246593.1:c.9820G>A, XM_005246594.1:c.9820G>A, XM_005246595.1:c.9820G>A, XM_005246596.1:c.9820G>A, XM_005246597.1:c.9820G>A, XM_005246598.1:c.9820G>A, XM_005246599.1:c.9820G>A, XM_005246600.1:c.9820G>A, XM_005246601.1:c.9820G>A, XM_005246602.1:c.9820G>A, XM_005246603.1:c.9820G>A, XM_005246604.1:c.9820G>A, XM_005246605.1:c.9820G>A, XM_005246606.1:c.9820G>A, XM_005246607.1:c.9820G>A, XM_005246608.1:c.9820G>A, XM_005246609.1:c.9820G>A, XM_005246610.1:c.9820G>A, XM_005246611.1:c.9820G>A, XM_005246612.1:c.9091G>A, XM_005246613.1:c.9091G>A, XM_005246614.1:c.9820G>A, XM_005246615.1:c.9820G>A, XM_005246616.1:c.9820G>A, XM_005246617.1:c.9820G>A, XM_005246618.1:c.-18-1773G>AVOUS10/06/2017
16NEBEx75NM_001271208.1:c.11181T>Ap.Asp3727Glu | p.D3727ELRG_202t1:c.11181T>A, NM_001164507.1:c.11181T>A, NM_001164508.1:c.11181T>A, NM_001271208.1:c.11181T>A, NM_004543.3:c.10452T>A, NM_004543.4:c.10452T>A, XM_005246590.1:c.11181T>A, XM_005246591.1:c.11181T>A, XM_005246592.1:c.11181T>A, XM_005246593.1:c.11181T>A, XM_005246594.1:c.11181T>A, XM_005246595.1:c.11181T>A, XM_005246596.1:c.11181T>A, XM_005246597.1:c.11181T>A, XM_005246598.1:c.11181T>A, XM_005246599.1:c.11181T>A, XM_005246600.1:c.11181T>A, XM_005246601.1:c.11181T>A, XM_005246602.1:c.11181T>A, XM_005246603.1:c.11181T>A, XM_005246604.1:c.11181T>A, XM_005246605.1:c.11181T>A, XM_005246606.1:c.11181T>A, XM_005246607.1:c.11181T>A, XM_005246608.1:c.11181T>A, XM_005246609.1:c.11181T>A, XM_005246610.1:c.11181T>A, XM_005246611.1:c.11181T>A, XM_005246612.1:c.10452T>A, XM_005246613.1:c.10452T>A, XM_005246614.1:c.11181T>A, XM_005246615.1:c.11181T>A, XM_005246616.1:c.11181T>A, XM_005246617.1:c.10560+3555T>A, XM_005246618.1:c.1275T>ABenign12/22/2016 
17NEBEx76NM_001271208.1:c.11221G>Ap.Gly3741Ser | p.G3741SLRG_202t1:c.11221G>A, NM_001164507.1:c.11221G>A, NM_001164508.1:c.11221G>A, NM_001271208.1:c.11221G>A, NM_004543.3:c.10492G>A, NM_004543.4:c.10492G>A, XM_005246590.1:c.11221G>A, XM_005246591.1:c.11221G>A, XM_005246592.1:c.11221G>A, XM_005246593.1:c.11221G>A, XM_005246594.1:c.11221G>A, XM_005246595.1:c.11221G>A, XM_005246596.1:c.11221G>A, XM_005246597.1:c.11221G>A, XM_005246598.1:c.11221G>A, XM_005246599.1:c.11221G>A, XM_005246600.1:c.11221G>A, XM_005246601.1:c.11221G>A, XM_005246602.1:c.11221G>A, XM_005246603.1:c.11221G>A, XM_005246604.1:c.11221G>A, XM_005246605.1:c.11221G>A, XM_005246606.1:c.11221G>A, XM_005246607.1:c.11221G>A, XM_005246608.1:c.11221G>A, XM_005246609.1:c.11221G>A, XM_005246610.1:c.11221G>A, XM_005246611.1:c.11221G>A, XM_005246612.1:c.10492G>A, XM_005246613.1:c.10492G>A, XM_005246614.1:c.11221G>A, XM_005246615.1:c.11221G>A, XM_005246616.1:c.11221G>A, XM_005246617.1:c.10560+4849G>A, XM_005246618.1:c.1315G>AVOUS07/12/2016
18NEBEx80NM_001271208.1:c.12018+1G>ALRG_202t1:c.12018+1G>A, NM_001164507.1:c.12018+1G>A, NM_001164508.1:c.12018+1G>A, NM_001271208.1:c.12018+1G>A, NM_004543.3:c.11289+1G>A, NM_004543.4:c.11289+1G>A, XM_005246590.1:c.12018+1G>A, XM_005246591.1:c.12018+1G>A, XM_005246592.1:c.12018+1G>A, XM_005246593.1:c.12018+1G>A, XM_005246594.1:c.12018+1G>A, XM_005246595.1:c.12018+1G>A, XM_005246596.1:c.12018+1G>A, XM_005246597.1:c.12018+1G>A, XM_005246598.1:c.12018+1G>A, XM_005246599.1:c.12018+1G>A, XM_005246600.1:c.12018+1G>A, XM_005246601.1:c.12018+1G>A, XM_005246602.1:c.12018+1G>A, XM_005246603.1:c.12018+1G>A, XM_005246604.1:c.12018+1G>A, XM_005246605.1:c.12018+1G>A, XM_005246606.1:c.12018+1G>A, XM_005246607.1:c.12018+1G>A, XM_005246608.1:c.12018+1G>A, XM_005246609.1:c.12018+1G>A, XM_005246610.1:c.12018+1G>A, XM_005246611.1:c.12018+1G>A, XM_005246612.1:c.11289+1G>A, XM_005246613.1:c.11289+1G>A, XM_005246614.1:c.12018+1G>A, XM_005246615.1:c.12018+1G>A, XM_005246616.1:c.12018+1G>A, XM_005246617.1:c.10561-9762G>A, XM_005246618.1:c.211Pathogenic12/21/2016 
19NEBEx95NM_001271208.1:c.14767G>Ap.Val4923Met | p.V4923MLRG_202t1:c.14767G>A, NM_001164507.1:c.14767G>A, NM_001164508.1:c.14767G>A, NM_001271208.1:c.14767G>A, NM_004543.3:c.11602-15739G>A, NM_004543.4:c.11602-15739G>A, XM_005246590.1:c.14767G>A, XM_005246591.1:c.14767G>A, XM_005246592.1:c.14767G>A, XM_005246593.1:c.14767G>A, XM_005246594.1:c.14767G>A, XM_005246595.1:c.14767G>A, XM_005246596.1:c.14767G>A, XM_005246597.1:c.14767G>A, XM_005246598.1:c.14767G>A, XM_005246599.1:c.14767G>A, XM_005246600.1:c.14767G>A, XM_005246601.1:c.14767G>A, XM_005246602.1:c.14767G>A, XM_005246603.1:c.14767G>A, XM_005246604.1:c.14767G>A, XM_005246605.1:c.14767G>A, XM_005246606.1:c.14767G>A, XM_005246607.1:c.14767G>A, XM_005246608.1:c.14767G>A, XM_005246609.1:c.14767G>A, XM_005246610.1:c.14767G>A, XM_005246611.1:c.14767G>A, XM_005246612.1:c.14038G>A, XM_005246613.1:c.14038G>A, XM_005246614.1:c.14767G>A, XM_005246615.1:c.14767G>A, XM_005246616.1:c.14767G>A, XM_005246617.1:c.11851G>A, XM_005246618.1:c.4861G>AVOUS01/09/2020
20NEBEx97NM_001271208.1:c.15237A>Gp.Leu5079= | p.L5079=LRG_202t1:c.15237A>G, NM_001164507.1:c.15237A>G, NM_001164508.1:c.15237A>G, NM_001271208.1:c.15237A>G, NM_004543.3:c.11602-13544A>G, NM_004543.4:c.11602-13544A>G, XM_005246590.1:c.15237A>G, XM_005246591.1:c.15237A>G, XM_005246592.1:c.15237A>G, XM_005246593.1:c.15237A>G, XM_005246594.1:c.15237A>G, XM_005246595.1:c.15237A>G, XM_005246596.1:c.15237A>G, XM_005246597.1:c.15237A>G, XM_005246598.1:c.15237A>G, XM_005246599.1:c.15237A>G, XM_005246600.1:c.15237A>G, XM_005246601.1:c.15237A>G, XM_005246602.1:c.15237A>G, XM_005246603.1:c.15237A>G, XM_005246604.1:c.15237A>G, XM_005246605.1:c.15237A>G, XM_005246606.1:c.15237A>G, XM_005246607.1:c.15237A>G, XM_005246608.1:c.15237A>G, XM_005246609.1:c.15237A>G, XM_005246610.1:c.15237A>G, XM_005246611.1:c.15237A>G, XM_005246612.1:c.14508A>G, XM_005246613.1:c.14508A>G, XM_005246614.1:c.15237A>G, XM_005246615.1:c.15237A>G, XM_005246616.1:c.15237A>G, XM_005246617.1:c.12321A>G, XM_005246618.1:c.5331A>GVOUS02/09/2017
21NEBEx98NM_001271208.1:c.15363G>Cp.Arg5121Ser | p.R5121SLRG_202t1:c.15363G>C, NM_001164507.1:c.15363G>C, NM_001164508.1:c.15363G>C, NM_001271208.1:c.15363G>C, NM_004543.3:c.11602-11107G>C, NM_004543.4:c.11602-11107G>C, XM_005246590.1:c.15363G>C, XM_005246591.1:c.15363G>C, XM_005246592.1:c.15363G>C, XM_005246593.1:c.15363G>C, XM_005246594.1:c.15363G>C, XM_005246595.1:c.15363G>C, XM_005246596.1:c.15363G>C, XM_005246597.1:c.15363G>C, XM_005246598.1:c.15363G>C, XM_005246599.1:c.15363G>C, XM_005246600.1:c.15363G>C, XM_005246601.1:c.15363G>C, XM_005246602.1:c.15363G>C, XM_005246603.1:c.15363G>C, XM_005246604.1:c.15363G>C, XM_005246605.1:c.15363G>C, XM_005246606.1:c.15363G>C, XM_005246607.1:c.15363G>C, XM_005246608.1:c.15363G>C, XM_005246609.1:c.15363G>C, XM_005246610.1:c.15363G>C, XM_005246611.1:c.15363G>C, XM_005246612.1:c.14634G>C, XM_005246613.1:c.14634G>C, XM_005246614.1:c.15363G>C, XM_005246615.1:c.15363G>C, XM_005246616.1:c.15363G>C, XM_005246617.1:c.12447G>C, XM_005246618.1:c.5457G>CVOUS05/26/2017
22NEBEx98NM_001271208.1:c.15445A>Tp.Ser5149Cys | p.S5149CLRG_202t1:c.15445A>T, NM_001164507.1:c.15445A>T, NM_001164508.1:c.15445A>T, NM_001271208.1:c.15445A>T, NM_004543.3:c.11602-11025A>T, NM_004543.4:c.11602-11025A>T, XM_005246590.1:c.15445A>T, XM_005246591.1:c.15445A>T, XM_005246592.1:c.15445A>T, XM_005246593.1:c.15445A>T, XM_005246594.1:c.15445A>T, XM_005246595.1:c.15445A>T, XM_005246596.1:c.15445A>T, XM_005246597.1:c.15445A>T, XM_005246598.1:c.15445A>T, XM_005246599.1:c.15445A>T, XM_005246600.1:c.15445A>T, XM_005246601.1:c.15445A>T, XM_005246602.1:c.15445A>T, XM_005246603.1:c.15445A>T, XM_005246604.1:c.15445A>T, XM_005246605.1:c.15445A>T, XM_005246606.1:c.15445A>T, XM_005246607.1:c.15445A>T, XM_005246608.1:c.15445A>T, XM_005246609.1:c.15445A>T, XM_005246610.1:c.15445A>T, XM_005246611.1:c.15445A>T, XM_005246612.1:c.14716A>T, XM_005246613.1:c.14716A>T, XM_005246614.1:c.15445A>T, XM_005246615.1:c.15445A>T, XM_005246616.1:c.15445A>T, XM_005246617.1:c.12529A>T, XM_005246618.1:c.5539A>TVOUS12/22/2016
23NEBEx100NM_001271208.1:c.15633C>Gp.His5211Gln | p.H5211QLRG_202t1:c.15633C>G, NM_001164507.1:c.15633C>G, NM_001164508.1:c.15633C>G, NM_001271208.1:c.15633C>G, NM_004543.3:c.11602-9183C>G, NM_004543.4:c.11602-9183C>G, XM_005246590.1:c.15633C>G, XM_005246591.1:c.15633C>G, XM_005246592.1:c.15633C>G, XM_005246593.1:c.15633C>G, XM_005246594.1:c.15633C>G, XM_005246595.1:c.15633C>G, XM_005246596.1:c.15633C>G, XM_005246597.1:c.15633C>G, XM_005246598.1:c.15633C>G, XM_005246599.1:c.15633C>G, XM_005246600.1:c.15633C>G, XM_005246601.1:c.15633C>G, XM_005246602.1:c.15633C>G, XM_005246603.1:c.15633C>G, XM_005246604.1:c.15633C>G, XM_005246605.1:c.15633C>G, XM_005246606.1:c.15633C>G, XM_005246607.1:c.15633C>G, XM_005246608.1:c.15633C>G, XM_005246609.1:c.15633C>G, XM_005246610.1:c.15633C>G, XM_005246611.1:c.15633C>G, XM_005246612.1:c.14904C>G, XM_005246613.1:c.14904C>G, XM_005246614.1:c.15633C>G, XM_005246615.1:c.15633C>G, XM_005246616.1:c.15633C>G, XM_005246617.1:c.12717C>G, XM_005246618.1:c.5727C>GVOUS10/06/2017
24NEBEx101NM_001271208.1:c.15882C>Tp.Asp5294= | p.D5294=LRG_202t1:c.15882C>T, NM_001164507.1:c.15882C>T, NM_001164508.1:c.15882C>T, NM_001271208.1:c.15882C>T, NM_004543.3:c.11602-7194C>T, NM_004543.4:c.11602-7194C>T, XM_005246590.1:c.15882C>T, XM_005246591.1:c.15882C>T, XM_005246592.1:c.15882C>T, XM_005246593.1:c.15882C>T, XM_005246594.1:c.15882C>T, XM_005246595.1:c.15882C>T, XM_005246596.1:c.15882C>T, XM_005246597.1:c.15882C>T, XM_005246598.1:c.15882C>T, XM_005246599.1:c.15882C>T, XM_005246600.1:c.15882C>T, XM_005246601.1:c.15882C>T, XM_005246602.1:c.15882C>T, XM_005246603.1:c.15882C>T, XM_005246604.1:c.15882C>T, XM_005246605.1:c.15882C>T, XM_005246606.1:c.15882C>T, XM_005246607.1:c.15882C>T, XM_005246608.1:c.15882C>T, XM_005246609.1:c.15882C>T, XM_005246610.1:c.15882C>T, XM_005246611.1:c.15882C>T, XM_005246612.1:c.15153C>T, XM_005246613.1:c.15153C>T, XM_005246614.1:c.15882C>T, XM_005246615.1:c.15882C>T, XM_005246616.1:c.15882C>T, XM_005246617.1:c.12966C>T, XM_005246618.1:c.5976C>TVOUS06/27/2017
25NEBEx105NM_001271208.1:c.16396C>Gp.Leu5466Val | p.L5466VLRG_202t1:c.16396C>G, NM_001164507.1:c.16396C>G, NM_001164508.1:c.16396C>G, NM_001271208.1:c.16396C>G, NM_004543.3:c.11602-3292C>G, NM_004543.4:c.11602-3292C>G, XM_005246590.1:c.16396C>G, XM_005246591.1:c.16396C>G, XM_005246592.1:c.16396C>G, XM_005246593.1:c.16396C>G, XM_005246594.1:c.16396C>G, XM_005246595.1:c.16396C>G, XM_005246596.1:c.16396C>G, XM_005246597.1:c.16396C>G, XM_005246598.1:c.16396C>G, XM_005246599.1:c.16396C>G, XM_005246600.1:c.16396C>G, XM_005246601.1:c.16396C>G, XM_005246602.1:c.16396C>G, XM_005246603.1:c.16396C>G, XM_005246604.1:c.16396C>G, XM_005246605.1:c.16396C>G, XM_005246606.1:c.16396C>G, XM_005246607.1:c.16396C>G, XM_005246608.1:c.16396C>G, XM_005246609.1:c.16396C>G, XM_005246610.1:c.16396C>G, XM_005246611.1:c.16396C>G, XM_005246612.1:c.15667C>G, XM_005246613.1:c.15667C>G, XM_005246614.1:c.16396C>G, XM_005246615.1:c.16396C>G, XM_005246616.1:c.16396C>G, XM_005246617.1:c.13480C>G, XM_005246618.1:c.6490C>GVOUS10/10/2017
26NEBEx107NM_001271208.1:c.16984G>Ap.Ala5662Thr | p.A5662TLRG_202t1:c.16984G>A, NM_001164507.1:c.16984G>A, NM_001164508.1:c.16984G>A, NM_001271208.1:c.16984G>A, NM_004543.3:c.11881G>A, NM_004543.4:c.11881G>A, XM_005246590.1:c.16984G>A, XM_005246591.1:c.16984G>A, XM_005246592.1:c.16984G>A, XM_005246593.1:c.16984G>A, XM_005246594.1:c.16984G>A, XM_005246595.1:c.16984G>A, XM_005246596.1:c.16984G>A, XM_005246597.1:c.16984G>A, XM_005246598.1:c.16984G>A, XM_005246599.1:c.16984G>A, XM_005246600.1:c.16984G>A, XM_005246601.1:c.16984G>A, XM_005246602.1:c.16984G>A, XM_005246603.1:c.16984G>A, XM_005246604.1:c.16984G>A, XM_005246605.1:c.16984G>A, XM_005246606.1:c.16984G>A, XM_005246607.1:c.16984G>A, XM_005246608.1:c.16984G>A, XM_005246609.1:c.16984G>A, XM_005246610.1:c.16984G>A, XM_005246611.1:c.16984G>A, XM_005246612.1:c.16255G>A, XM_005246613.1:c.16255G>A, XM_005246614.1:c.16984G>A, XM_005246615.1:c.16984G>A, XM_005246616.1:c.16984G>A, XM_005246617.1:c.14068G>A, XM_005246618.1:c.7078G>AVOUS07/10/2019
27NEBEx114NM_001271208.1:c.17897C>Tp.Pro5966Leu | p.P5966LLRG_202t1:c.17897C>T, NM_001164507.1:c.17897C>T, NM_001164508.1:c.17897C>T, NM_001271208.1:c.17897C>T, NM_004543.3:c.12794C>T, NM_004543.4:c.12794C>T, XM_005246590.1:c.17897C>T, XM_005246591.1:c.17897C>T, XM_005246592.1:c.17897C>T, XM_005246593.1:c.17897C>T, XM_005246594.1:c.17897C>T, XM_005246595.1:c.17897C>T, XM_005246596.1:c.17897C>T, XM_005246597.1:c.17897C>T, XM_005246598.1:c.17897C>T, XM_005246599.1:c.17897C>T, XM_005246600.1:c.17897C>T, XM_005246601.1:c.17897C>T, XM_005246602.1:c.17897C>T, XM_005246603.1:c.17897C>T, XM_005246604.1:c.17897C>T, XM_005246605.1:c.17897C>T, XM_005246606.1:c.17897C>T, XM_005246607.1:c.17897C>T, XM_005246608.1:c.17897C>T, XM_005246609.1:c.17897C>T, XM_005246610.1:c.17897C>T, XM_005246611.1:c.17897C>T, XM_005246612.1:c.17168C>T, XM_005246613.1:c.17168C>T, XM_005246614.1:c.17897C>T, XM_005246615.1:c.17897C>T, XM_005246616.1:c.17897C>T, XM_005246617.1:c.14981C>T, XM_005246618.1:c.7991C>TVOUS02/20/2017
28NEBEx117NM_001271208.1:c.18464A>Cp.Tyr6155Ser | p.Y6155SLRG_202t1:c.18464A>C, NM_001164507.1:c.18464A>C, NM_001164508.1:c.18464A>C, NM_001271208.1:c.18464A>C, NM_004543.3:c.13361A>C, NM_004543.4:c.13361A>C, XM_005246590.1:c.18464A>C, XM_005246591.1:c.18464A>C, XM_005246592.1:c.18464A>C, XM_005246593.1:c.18464A>C, XM_005246594.1:c.18464A>C, XM_005246595.1:c.18464A>C, XM_005246596.1:c.18464A>C, XM_005246597.1:c.18464A>C, XM_005246598.1:c.18464A>C, XM_005246599.1:c.18464A>C, XM_005246600.1:c.18464A>C, XM_005246601.1:c.18464A>C, XM_005246602.1:c.18464A>C, XM_005246603.1:c.18464A>C, XM_005246604.1:c.18464A>C, XM_005246605.1:c.18464A>C, XM_005246606.1:c.18464A>C, XM_005246607.1:c.18464A>C, XM_005246608.1:c.18464A>C, XM_005246609.1:c.18464A>C, XM_005246610.1:c.18464A>C, XM_005246611.1:c.18464A>C, XM_005246612.1:c.17735A>C, XM_005246613.1:c.17735A>C, XM_005246614.1:c.18464A>C, XM_005246615.1:c.18464A>C, XM_005246616.1:c.18464A>C, XM_005246617.1:c.15548A>C, XM_005246618.1:c.8558A>CLikely benign06/12/2017 
29NEBEx152NM_001271208.1:c.22288G>Ap.Val7430Ile | p.V7430ILRG_202t1:c.22288G>A, NM_001164507.1:c.22183G>A, NM_001164508.1:c.22183G>A, NM_001271208.1:c.22288G>A, NM_004543.3:c.17080G>A, NM_004543.4:c.17080G>A, XM_005246590.1:c.22183G>A, XM_005246591.1:c.22183G>A, XM_005246592.1:c.22183G>A, XM_005246593.1:c.22183G>A, XM_005246594.1:c.22183G>A, XM_005246595.1:c.22183G>A, XM_005246596.1:c.22183G>A, XM_005246597.1:c.22183G>A, XM_005246598.1:c.22183G>A, XM_005246599.1:c.22183G>A, XM_005246600.1:c.22183G>A, XM_005246601.1:c.22183G>A, XM_005246602.1:c.22183G>A, XM_005246603.1:c.22183G>A, XM_005246604.1:c.22183G>A, XM_005246605.1:c.22183G>A, XM_005246606.1:c.22183G>A, XM_005246607.1:c.22183G>A, XM_005246608.1:c.22183G>A, XM_005246609.1:c.22183G>A, XM_005246610.1:c.22183G>A, XM_005246611.1:c.22183G>A, XM_005246612.1:c.21454G>A, XM_005246613.1:c.21454G>A, XM_005246614.1:c.22183G>A, XM_005246615.1:c.22183G>A, XM_005246616.1:c.22183G>A, XM_005246617.1:c.19267G>A, XM_005246618.1:c.12277G>AVOUS02/09/2017
30NEBEx155NM_001271208.1:c.22695+2T>CPathogenic01/10/2020 
31NEBEx180NM_001271208.1:c.25246_25247delATp.Met8416Aspfs*2 | p.M8416DfsX2LRG_202t1:c.25246_25247delAT, NM_001164507.1:c.25141_25142delAT, NM_001164508.1:c.25141_25142delAT, NM_001271208.1:c.25246_25247delAT, NM_004543.3:c.19573_19574delAT, NM_004543.4:c.19573_19574delAT, XM_005246590.1:c.25048_25049delAT, XM_005246591.1:c.25048_25049delAT, XM_005246592.1:c.25048_25049delAT, XM_005246593.1:c.25048_25049delAT, XM_005246594.1:c.25048_25049delAT, XM_005246595.1:c.25048_25049delAT, XM_005246596.1:c.24955_24956delAT, XM_005246597.1:c.24955_24956delAT, XM_005246598.1:c.24955_24956delAT, XM_005246599.1:c.24862_24863delAT, XM_005246600.1:c.24862_24863delAT, XM_005246601.1:c.24769_24770delAT, XM_005246602.1:c.24769_24770delAT, XM_005246603.1:c.24676_24677delAT, XM_005246604.1:c.24676_24677delAT, XM_005246605.1:c.24676_24677delAT, XM_005246606.1:c.24676_24677delAT, XM_005246607.1:c.24583_24584delAT, XM_005246608.1:c.24583_24584delAT, XM_005246609.1:c.24490_24491delAT, XM_005246610.1:c.24490_24491delAT, XM_005246611.1:c.24490_24491delAT, XM_005246612.1:c.24412_24413dPathogenic06/27/2017 
32NEBEx183NM_001271208.1:c.25538T>Cp.Met8513Thr | p.M8513TLRG_202t1:c.25538T>C, NM_001164507.1:c.25433T>C, NM_001164508.1:c.25433T>C, NM_001271208.1:c.25538T>C, NM_004543.3:c.19865T>C, NM_004543.4:c.19865T>C, XM_005246590.1:c.25340T>C, XM_005246591.1:c.25340T>C, XM_005246592.1:c.25340T>C, XM_005246593.1:c.25340T>C, XM_005246594.1:c.25340T>C, XM_005246595.1:c.25340T>C, XM_005246596.1:c.25247T>C, XM_005246597.1:c.25247T>C, XM_005246598.1:c.25247T>C, XM_005246599.1:c.25154T>C, XM_005246600.1:c.25154T>C, XM_005246601.1:c.25061T>C, XM_005246602.1:c.25061T>C, XM_005246603.1:c.24968T>C, XM_005246604.1:c.24968T>C, XM_005246605.1:c.24968T>C, XM_005246606.1:c.24968T>C, XM_005246607.1:c.24875T>C, XM_005246608.1:c.24875T>C, XM_005246609.1:c.24782T>C, XM_005246610.1:c.24782T>C, XM_005246611.1:c.24782T>C, XM_005246612.1:c.24704T>C, XM_005246613.1:c.24704T>C, XM_005246614.1:c.24689T>C, XM_005246615.1:c.24689T>C, XM_005246617.1:c.22517T>C, XM_005246618.1:c.15527T>C, XR_241332.1:n.-372A>GVOUS05/26/2017
33NEBEx183NM_001271208.1:c.25568A>Gp.Lys8523Arg | p.K8523RLRG_202t1:c.25568A>G, NM_001164507.1:c.25463A>G, NM_001164508.1:c.25463A>G, NM_001271208.1:c.25568A>G, NM_004543.3:c.19895A>G, NM_004543.4:c.19895A>G, XM_005246590.1:c.25370A>G, XM_005246591.1:c.25370A>G, XM_005246592.1:c.25370A>G, XM_005246593.1:c.25370A>G, XM_005246594.1:c.25370A>G, XM_005246595.1:c.25370A>G, XM_005246596.1:c.25277A>G, XM_005246597.1:c.25277A>G, XM_005246598.1:c.25277A>G, XM_005246599.1:c.25184A>G, XM_005246600.1:c.25184A>G, XM_005246601.1:c.25091A>G, XM_005246602.1:c.25091A>G, XM_005246603.1:c.24998A>G, XM_005246604.1:c.24998A>G, XM_005246605.1:c.24998A>G, XM_005246606.1:c.24998A>G, XM_005246607.1:c.24905A>G, XM_005246608.1:c.24905A>G, XM_005246609.1:c.24812A>G, XM_005246610.1:c.24812A>G, XM_005246611.1:c.24812A>G, XM_005246612.1:c.24734A>G, XM_005246613.1:c.24734A>G, XM_005246614.1:c.24719A>G, XM_005246615.1:c.24719A>G, XM_005246617.1:c.22547A>G, XM_005246618.1:c.15557A>G, XR_241332.1:n.-402T>CVOUS06/13/2018
34NEBEx3NM_004543.4:c.12C>Tp.Asp4= | p.D4=NM_001164507.1:c.12C>T, NM_001164508.1:c.12C>T, NM_001271208.1:c.12C>T, NM_004543.3:c.12C>T, NM_004543.4:c.12C>TVOUS02/20/2014
35NEBEx4NM_004543.4:c.61G>Ap.Glu21Lys | p.E21KLRG_202t1:c.61G>A, NM_001164507.1:c.61G>A, NM_001164508.1:c.61G>A, NM_001271208.1:c.61G>A, NM_004543.3:c.61G>A, NM_004543.4:c.61G>A, XM_005246590.1:c.61G>A, XM_005246591.1:c.61G>A, XM_005246592.1:c.61G>A, XM_005246593.1:c.61G>A, XM_005246594.1:c.61G>A, XM_005246595.1:c.61G>A, XM_005246596.1:c.61G>A, XM_005246597.1:c.61G>A, XM_005246598.1:c.61G>A, XM_005246599.1:c.61G>A, XM_005246600.1:c.61G>A, XM_005246601.1:c.61G>A, XM_005246602.1:c.61G>A, XM_005246603.1:c.61G>A, XM_005246604.1:c.61G>A, XM_005246605.1:c.61G>A, XM_005246606.1:c.61G>A, XM_005246607.1:c.61G>A, XM_005246608.1:c.61G>A, XM_005246609.1:c.61G>A, XM_005246610.1:c.61G>A, XM_005246611.1:c.61G>A, XM_005246612.1:c.61G>A, XM_005246613.1:c.61G>A, XM_005246614.1:c.61G>A, XM_005246615.1:c.61G>A, XM_005246616.1:c.61G>A, XM_005246617.1:c.61G>AVOUS03/07/2019
36NEBEx5NM_004543.4:c.105G>Ap.Thr35= | p.T35=NM_001164507.1:c.105G>A, NM_001164508.1:c.105G>A, NM_001271208.1:c.105G>A, NM_004543.3:c.105G>A, NM_004543.4:c.105G>AVOUS01/27/2014
37NEBEx5NM_004543.4:c.153_167dupTCTGGCACAGCCAGCp.Leu57_Ala61dup | p.L57_A61dupLRG_202t1:c.153_167dupTCTGGCACAGCCAGC, LRG_202t1:c.167_168insTCTGGCACAGCCAGC, NM_001164507.1:c.153_167dupTCTGGCACAGCCAGC, NM_001164507.1:c.167_168insTCTGGCACAGCCAGC, NM_001164508.1:c.153_167dupTCTGGCACAGCCAGC, NM_001164508.1:c.167_168insTCTGGCACAGCCAGC, NM_001271208.1:c.153_167dupTCTGGCACAGCCAGC, NM_001271208.1:c.167_168insTCTGGCACAGCCAGC, NM_004543.3:c.153_167dupTCTGGCACAGCCAGC, NM_004543.3:c.167_168insTCTGGCACAGCCAGC, NM_004543.4:c.153_167dupTCTGGCACAGCCAGC, NM_004543.4:c.167_168insTCTGGCACAGCCAGC, XM_005246590.1:c.153_167dupTCTGGCACAGCCAGC, XM_005246590.1:c.167_168insTCTGGCACAGCCAGC, XM_005246591.1:c.153_167dupTCTGGCACAGCCAGC, XM_005246591.1:c.167_168insTCTGGCACAGCCAGC, XM_005246592.1:c.153_167dupTCTGGCACAGCCAGC, XM_005246592.1:c.167_168insTCTGGCACAGCCAGC, XM_005246593.1:c.153_167dupTCTGGCACAGCCAGC, XM_005246593.1:c.167_168insTCTGGCACAGCCAGC, XM_005246594.1:c.153_167dupTCTGGCACAGCCAGC, XM_005246594.1:c.167_168insTCTGGCACAGCCAGC, XM_005246595.1:c.153_167dupTCTGGCACAGCCAGC, XM_00524Likely benign04/13/2021 
38NEBEx5NM_004543.4:c.169_183delCTGGCACAGCCAGCABenign03/11/2013 
39NEBEx5NM_004543.4:c.195G>Ap.Pro65= | p.P65=NM_001164507.1:c.195G>A, NM_001164508.1:c.195G>A, NM_001271208.1:c.195G>A, NM_004543.3:c.195G>A, NM_004543.4:c.195G>ABenign03/11/2013 
40NEBEx5NM_004543.4:c.218G>Ap.Arg73Gln | p.R73QNM_001164507.1:c.218G>A, NM_001164508.1:c.218G>A, NM_001271208.1:c.218G>A, NM_004543.3:c.218G>A, NM_004543.4:c.218G>AVOUS04/17/2014
41NEBEx5NM_004543.4:c.294+2T>CLRG_202t1:c.294+2T>C, NM_001164507.1:c.294+2T>C, NM_001164508.1:c.294+2T>C, NM_001271208.1:c.294+2T>C, NM_004543.3:c.294+2T>C, NM_004543.4:c.294+2T>C, XM_005246590.1:c.294+2T>C, XM_005246591.1:c.294+2T>C, XM_005246592.1:c.294+2T>C, XM_005246593.1:c.294+2T>C, XM_005246594.1:c.294+2T>C, XM_005246595.1:c.294+2T>C, XM_005246596.1:c.294+2T>C, XM_005246597.1:c.294+2T>C, XM_005246598.1:c.294+2T>C, XM_005246599.1:c.294+2T>C, XM_005246600.1:c.294+2T>C, XM_005246601.1:c.294+2T>C, XM_005246602.1:c.294+2T>C, XM_005246603.1:c.294+2T>C, XM_005246604.1:c.294+2T>C, XM_005246605.1:c.294+2T>C, XM_005246606.1:c.294+2T>C, XM_005246607.1:c.294+2T>C, XM_005246608.1:c.294+2T>C, XM_005246609.1:c.294+2T>C, XM_005246610.1:c.294+2T>C, XM_005246611.1:c.294+2T>C, XM_005246612.1:c.294+2T>C, XM_005246613.1:c.294+2T>C, XM_005246614.1:c.294+2T>C, XM_005246615.1:c.294+2T>C, XM_005246616.1:c.294+2T>C, XM_005246617.1:c.294+2T>CPathogenic05/25/2016 
42NEBEx6NM_004543.4:c.328G>Ap.Gly110Arg | p.G110RLRG_202t1:c.328G>A, NM_001164507.1:c.328G>A, NM_001164508.1:c.328G>A, NM_001271208.1:c.328G>A, NM_004543.3:c.328G>A, NM_004543.4:c.328G>A, XM_005246590.1:c.328G>A, XM_005246591.1:c.328G>A, XM_005246592.1:c.328G>A, XM_005246593.1:c.328G>A, XM_005246594.1:c.328G>A, XM_005246595.1:c.328G>A, XM_005246596.1:c.328G>A, XM_005246597.1:c.328G>A, XM_005246598.1:c.328G>A, XM_005246599.1:c.328G>A, XM_005246600.1:c.328G>A, XM_005246601.1:c.328G>A, XM_005246602.1:c.328G>A, XM_005246603.1:c.328G>A, XM_005246604.1:c.328G>A, XM_005246605.1:c.328G>A, XM_005246606.1:c.328G>A, XM_005246607.1:c.328G>A, XM_005246608.1:c.328G>A, XM_005246609.1:c.328G>A, XM_005246610.1:c.328G>A, XM_005246611.1:c.328G>A, XM_005246612.1:c.328G>A, XM_005246613.1:c.328G>A, XM_005246614.1:c.328G>A, XM_005246615.1:c.328G>A, XM_005246616.1:c.328G>A, XM_005246617.1:c.328G>AVOUS04/14/2016
43NEBEx7NM_004543.4:c.403G>Ap.Val135Ile | p.V135INM_001164507.1:c.403G>A, NM_001164508.1:c.403G>A, NM_001271208.1:c.403G>A, NM_004543.3:c.403G>A, NM_004543.4:c.403G>A, XM_005246590.1:c.403G>A, XM_005246591.1:c.403G>A, XM_005246592.1:c.403G>A, XM_005246593.1:c.403G>A, XM_005246594.1:c.403G>A, XM_005246595.1:c.403G>A, XM_005246596.1:c.403G>A, XM_005246597.1:c.403G>A, XM_005246598.1:c.403G>A, XM_005246599.1:c.403G>A, XM_005246600.1:c.403G>A, XM_005246601.1:c.403G>A, XM_005246602.1:c.403G>A, XM_005246603.1:c.403G>A, XM_005246604.1:c.403G>A, XM_005246605.1:c.403G>A, XM_005246606.1:c.403G>A, XM_005246607.1:c.403G>A, XM_005246608.1:c.403G>A, XM_005246609.1:c.403G>A, XM_005246610.1:c.403G>A, XM_005246611.1:c.403G>A, XM_005246612.1:c.403G>A, XM_005246613.1:c.403G>A, XM_005246614.1:c.403G>A, XM_005246615.1:c.403G>A, XM_005246616.1:c.403G>A, XM_005246617.1:c.403G>AVOUS12/24/2015
44NEBEx7NM_004543.4:c.492G>Tp.Ser164= | p.S164=NM_001164507.1:c.492G>T, NM_001164508.1:c.492G>T, NM_001271208.1:c.492G>T, NM_004543.3:c.492G>T, NM_004543.4:c.492G>T, XM_005246590.1:c.492G>T, XM_005246591.1:c.492G>T, XM_005246592.1:c.492G>T, XM_005246593.1:c.492G>T, XM_005246594.1:c.492G>T, XM_005246595.1:c.492G>T, XM_005246596.1:c.492G>T, XM_005246597.1:c.492G>T, XM_005246598.1:c.492G>T, XM_005246599.1:c.492G>T, XM_005246600.1:c.492G>T, XM_005246601.1:c.492G>T, XM_005246602.1:c.492G>T, XM_005246603.1:c.492G>T, XM_005246604.1:c.492G>T, XM_005246605.1:c.492G>T, XM_005246606.1:c.492G>T, XM_005246607.1:c.492G>T, XM_005246608.1:c.492G>T, XM_005246609.1:c.492G>T, XM_005246610.1:c.492G>T, XM_005246611.1:c.492G>T, XM_005246612.1:c.492G>T, XM_005246613.1:c.492G>T, XM_005246614.1:c.492G>T, XM_005246615.1:c.492G>T, XM_005246617.1:c.492G>TVOUS12/18/2013
45NEBEx8NM_004543.4:c.539A>Gp.Lys180Arg | p.K180RNM_001164507.1:c.539A>G, NM_001164508.1:c.539A>G, NM_001271208.1:c.539A>G, NM_004543.3:c.539A>G, NM_004543.4:c.539A>G, XM_005246590.1:c.539A>G, XM_005246591.1:c.539A>G, XM_005246592.1:c.539A>G, XM_005246593.1:c.539A>G, XM_005246594.1:c.539A>G, XM_005246595.1:c.539A>G, XM_005246596.1:c.539A>G, XM_005246597.1:c.539A>G, XM_005246598.1:c.539A>G, XM_005246599.1:c.539A>G, XM_005246600.1:c.539A>G, XM_005246601.1:c.539A>G, XM_005246602.1:c.539A>G, XM_005246603.1:c.539A>G, XM_005246604.1:c.539A>G, XM_005246605.1:c.539A>G, XM_005246606.1:c.539A>G, XM_005246607.1:c.539A>G, XM_005246608.1:c.539A>G, XM_005246609.1:c.539A>G, XM_005246610.1:c.539A>G, XM_005246611.1:c.539A>G, XM_005246612.1:c.539A>G, XM_005246613.1:c.539A>G, XM_005246614.1:c.539A>G, XM_005246615.1:c.539A>G, XM_005246616.1:c.539A>G, XM_005246617.1:c.539A>GVOUS09/17/2014
46NEBEx10NM_004543.4:c.771T>Cp.Ala257= | p.A257=NM_001164507.1:c.771T>C, NM_001164508.1:c.771T>C, NM_001271208.1:c.771T>C, NM_004543.3:c.771T>C, NM_004543.4:c.771T>CBenign03/11/2013 
47NEBEx11NM_004543.4:c.863A>Gp.Lys288Arg | p.K288RNM_001164507.1:c.863A>G, NM_001164508.1:c.863A>G, NM_001271208.1:c.863A>G, NM_004543.3:c.863A>G, NM_004543.4:c.863A>G, XM_005246590.1:c.863A>G, XM_005246591.1:c.863A>G, XM_005246592.1:c.863A>G, XM_005246593.1:c.863A>G, XM_005246594.1:c.863A>G, XM_005246595.1:c.863A>G, XM_005246596.1:c.863A>G, XM_005246597.1:c.863A>G, XM_005246598.1:c.863A>G, XM_005246599.1:c.863A>G, XM_005246600.1:c.863A>G, XM_005246601.1:c.863A>G, XM_005246602.1:c.863A>G, XM_005246603.1:c.863A>G, XM_005246604.1:c.863A>G, XM_005246605.1:c.863A>G, XM_005246606.1:c.863A>G, XM_005246607.1:c.863A>G, XM_005246608.1:c.863A>G, XM_005246609.1:c.863A>G, XM_005246610.1:c.863A>G, XM_005246611.1:c.863A>G, XM_005246612.1:c.863A>G, XM_005246613.1:c.863A>G, XM_005246614.1:c.863A>G, XM_005246615.1:c.863A>G, XM_005246616.1:c.863A>G, XM_005246617.1:c.863A>GBenign04/27/2016 
48NEBEx11NM_004543.4:c.914A>Gp.Asp305Gly | p.D305GNM_001164507.1:c.914A>G, NM_001164508.1:c.914A>G, NM_001271208.1:c.914A>G, NM_004543.3:c.914A>G, NM_004543.4:c.914A>G, XM_005246590.1:c.914A>G, XM_005246591.1:c.914A>G, XM_005246592.1:c.914A>G, XM_005246593.1:c.914A>G, XM_005246594.1:c.914A>G, XM_005246595.1:c.914A>G, XM_005246596.1:c.914A>G, XM_005246597.1:c.914A>G, XM_005246598.1:c.914A>G, XM_005246599.1:c.914A>G, XM_005246600.1:c.914A>G, XM_005246601.1:c.914A>G, XM_005246602.1:c.914A>G, XM_005246603.1:c.914A>G, XM_005246604.1:c.914A>G, XM_005246605.1:c.914A>G, XM_005246606.1:c.914A>G, XM_005246607.1:c.914A>G, XM_005246608.1:c.914A>G, XM_005246609.1:c.914A>G, XM_005246610.1:c.914A>G, XM_005246611.1:c.914A>G, XM_005246612.1:c.914A>G, XM_005246613.1:c.914A>G, XM_005246614.1:c.914A>G, XM_005246615.1:c.914A>G, XM_005246616.1:c.914A>G, XM_005246617.1:c.914A>GBenign11/20/2014 
49NEBEx12NM_004543.4:c.966G>Tp.Gln322His | p.Q322HLRG_202t1:c.966G>T, NM_001164507.1:c.966G>T, NM_001164508.1:c.966G>T, NM_001271208.1:c.966G>T, NM_004543.3:c.966G>T, NM_004543.4:c.966G>T, XM_005246590.1:c.966G>T, XM_005246591.1:c.966G>T, XM_005246592.1:c.966G>T, XM_005246593.1:c.966G>T, XM_005246594.1:c.966G>T, XM_005246595.1:c.966G>T, XM_005246596.1:c.966G>T, XM_005246597.1:c.966G>T, XM_005246598.1:c.966G>T, XM_005246599.1:c.966G>T, XM_005246600.1:c.966G>T, XM_005246601.1:c.966G>T, XM_005246602.1:c.966G>T, XM_005246603.1:c.966G>T, XM_005246604.1:c.966G>T, XM_005246605.1:c.966G>T, XM_005246606.1:c.966G>T, XM_005246607.1:c.966G>T, XM_005246608.1:c.966G>T, XM_005246609.1:c.966G>T, XM_005246610.1:c.966G>T, XM_005246611.1:c.966G>T, XM_005246612.1:c.966G>T, XM_005246613.1:c.966G>T, XM_005246614.1:c.966G>T, XM_005246615.1:c.966G>T, XM_005246616.1:c.966G>T, XM_005246617.1:c.966G>TVOUS01/11/2017
50NEBEx13NM_004543.4:c.1152+1G>ANM_001164507.1:c.1152+1G>A, NM_001164508.1:c.1152+1G>A, NM_001271208.1:c.1152+1G>A, NM_004543.3:c.1152+1G>A, NM_004543.4:c.1152+1G>APathogenic11/14/2013 
51NEBEx14NM_004543.4:c.1206C>Tp.Cys402= | p.C402=NM_001164507.1:c.1206C>T, NM_001164508.1:c.1206C>T, NM_001271208.1:c.1206C>T, NM_004543.3:c.1206C>T, NM_004543.4:c.1206C>T, XM_005246590.1:c.1206C>T, XM_005246591.1:c.1206C>T, XM_005246592.1:c.1206C>T, XM_005246593.1:c.1206C>T, XM_005246594.1:c.1206C>T, XM_005246595.1:c.1206C>T, XM_005246596.1:c.1206C>T, XM_005246597.1:c.1206C>T, XM_005246598.1:c.1206C>T, XM_005246599.1:c.1206C>T, XM_005246600.1:c.1206C>T, XM_005246601.1:c.1206C>T, XM_005246602.1:c.1206C>T, XM_005246603.1:c.1206C>T, XM_005246604.1:c.1206C>T, XM_005246605.1:c.1206C>T, XM_005246606.1:c.1206C>T, XM_005246607.1:c.1206C>T, XM_005246608.1:c.1206C>T, XM_005246609.1:c.1206C>T, XM_005246610.1:c.1206C>T, XM_005246611.1:c.1206C>T, XM_005246612.1:c.1206C>T, XM_005246613.1:c.1206C>T, XM_005246614.1:c.1206C>T, XM_005246615.1:c.1206C>T, XM_005246616.1:c.1206C>T, XM_005246617.1:c.1206C>TVOUS06/10/2015
52NEBEx14NM_004543.4:c.1211C>Tp.Thr404Ile | p.T404INM_001164507.1:c.1211C>T, NM_001164508.1:c.1211C>T, NM_001271208.1:c.1211C>T, NM_004543.3:c.1211C>T, NM_004543.4:c.1211C>TVOUS05/05/2014
53NEBEx15NM_004543.4:c.1258-7C>GLRG_202t1:c.1258-7C>G, NM_001164507.1:c.1258-7C>G, NM_001164508.1:c.1258-7C>G, NM_001271208.1:c.1258-7C>G, NM_004543.3:c.1258-7C>G, NM_004543.4:c.1258-7C>G, XM_005246590.1:c.1258-7C>G, XM_005246591.1:c.1258-7C>G, XM_005246592.1:c.1258-7C>G, XM_005246593.1:c.1258-7C>G, XM_005246594.1:c.1258-7C>G, XM_005246595.1:c.1258-7C>G, XM_005246596.1:c.1258-7C>G, XM_005246597.1:c.1258-7C>G, XM_005246598.1:c.1258-7C>G, XM_005246599.1:c.1258-7C>G, XM_005246600.1:c.1258-7C>G, XM_005246601.1:c.1258-7C>G, XM_005246602.1:c.1258-7C>G, XM_005246603.1:c.1258-7C>G, XM_005246604.1:c.1258-7C>G, XM_005246605.1:c.1258-7C>G, XM_005246606.1:c.1258-7C>G, XM_005246607.1:c.1258-7C>G, XM_005246608.1:c.1258-7C>G, XM_005246609.1:c.1258-7C>G, XM_005246610.1:c.1258-7C>G, XM_005246611.1:c.1258-7C>G, XM_005246612.1:c.1258-7C>G, XM_005246613.1:c.1258-7C>G, XM_005246614.1:c.1258-7C>G, XM_005246615.1:c.1258-7C>G, XM_005246616.1:c.1258-7C>G, XM_005246617.1:c.1258-7C>GVOUS10/21/2016
54NEBEx16NM_004543.4:c.1413C>Tp.Phe471= | p.F471=NM_001164507.1:c.1413C>T, NM_001164508.1:c.1413C>T, NM_001271208.1:c.1413C>T, NM_004543.3:c.1413C>T, NM_004543.4:c.1413C>TBenign01/27/2014 
55NEBEx17NM_004543.4:c.1550A>Gp.Asn517Ser | p.N517SLRG_202t1:c.1550A>G, NM_001164507.1:c.1550A>G, NM_001164508.1:c.1550A>G, NM_001271208.1:c.1550A>G, NM_004543.3:c.1550A>G, NM_004543.4:c.1550A>G, XM_005246590.1:c.1550A>G, XM_005246591.1:c.1550A>G, XM_005246592.1:c.1550A>G, XM_005246593.1:c.1550A>G, XM_005246594.1:c.1550A>G, XM_005246595.1:c.1550A>G, XM_005246596.1:c.1550A>G, XM_005246597.1:c.1550A>G, XM_005246598.1:c.1550A>G, XM_005246599.1:c.1550A>G, XM_005246600.1:c.1550A>G, XM_005246601.1:c.1550A>G, XM_005246602.1:c.1550A>G, XM_005246603.1:c.1550A>G, XM_005246604.1:c.1550A>G, XM_005246605.1:c.1550A>G, XM_005246606.1:c.1550A>G, XM_005246607.1:c.1550A>G, XM_005246608.1:c.1550A>G, XM_005246609.1:c.1550A>G, XM_005246610.1:c.1550A>G, XM_005246611.1:c.1550A>G, XM_005246612.1:c.1550A>G, XM_005246613.1:c.1550A>G, XM_005246614.1:c.1550A>G, XM_005246615.1:c.1550A>G, XM_005246616.1:c.1550A>G, XM_005246617.1:c.1550A>GVOUS09/15/2016
56NEBEx18NM_004543.4:c.1570-2A>GLRG_202t1:c.1570-2A>G, NM_001164507.1:c.1570-2A>G, NM_001164508.1:c.1570-2A>G, NM_001271208.1:c.1570-2A>G, NM_004543.3:c.1570-2A>G, NM_004543.4:c.1570-2A>G, XM_005246590.1:c.1570-2A>G, XM_005246591.1:c.1570-2A>G, XM_005246592.1:c.1570-2A>G, XM_005246593.1:c.1570-2A>G, XM_005246594.1:c.1570-2A>G, XM_005246595.1:c.1570-2A>G, XM_005246596.1:c.1570-2A>G, XM_005246597.1:c.1570-2A>G, XM_005246598.1:c.1570-2A>G, XM_005246599.1:c.1570-2A>G, XM_005246600.1:c.1570-2A>G, XM_005246601.1:c.1570-2A>G, XM_005246602.1:c.1570-2A>G, XM_005246603.1:c.1570-2A>G, XM_005246604.1:c.1570-2A>G, XM_005246605.1:c.1570-2A>G, XM_005246606.1:c.1570-2A>G, XM_005246607.1:c.1570-2A>G, XM_005246608.1:c.1570-2A>G, XM_005246609.1:c.1570-2A>G, XM_005246610.1:c.1570-2A>G, XM_005246611.1:c.1570-2A>G, XM_005246612.1:c.1570-2A>G, XM_005246613.1:c.1570-2A>G, XM_005246614.1:c.1570-2A>G, XM_005246615.1:c.1570-2A>G, XM_005246616.1:c.1570-2A>G, XM_005246617.1:c.1570-2A>GPathogenic09/29/2017 
57NEBEx19NM_004543.4:c.1675-9T>GNM_001164507.1:c.1675-9T>G, NM_001164508.1:c.1675-9T>G, NM_001271208.1:c.1675-9T>G, NM_004543.3:c.1675-9T>G, NM_004543.4:c.1675-9T>G, XM_005246590.1:c.1675-9T>G, XM_005246591.1:c.1675-9T>G, XM_005246592.1:c.1675-9T>G, XM_005246593.1:c.1675-9T>G, XM_005246594.1:c.1675-9T>G, XM_005246595.1:c.1675-9T>G, XM_005246596.1:c.1675-9T>G, XM_005246597.1:c.1675-9T>G, XM_005246598.1:c.1675-9T>G, XM_005246599.1:c.1675-9T>G, XM_005246600.1:c.1675-9T>G, XM_005246601.1:c.1675-9T>G, XM_005246602.1:c.1675-9T>G, XM_005246603.1:c.1675-9T>G, XM_005246604.1:c.1675-9T>G, XM_005246605.1:c.1675-9T>G, XM_005246606.1:c.1675-9T>G, XM_005246607.1:c.1675-9T>G, XM_005246608.1:c.1675-9T>G, XM_005246609.1:c.1675-9T>G, XM_005246610.1:c.1675-9T>G, XM_005246611.1:c.1675-9T>G, XM_005246612.1:c.1675-9T>G, XM_005246613.1:c.1675-9T>G, XM_005246614.1:c.1675-9T>G, XM_005246615.1:c.1675-9T>G, XM_005246616.1:c.1675-9T>G, XM_005246617.1:c.1675-9T>GBenign02/13/2015 
58NEBEx19NM_004543.4:c.1735G>Tp.Ala579Ser | p.A579SLRG_202t1:c.1735G>T, NM_001164507.1:c.1735G>T, NM_001164508.1:c.1735G>T, NM_001271208.1:c.1735G>T, NM_004543.3:c.1735G>T, NM_004543.4:c.1735G>T, XM_005246590.1:c.1735G>T, XM_005246591.1:c.1735G>T, XM_005246592.1:c.1735G>T, XM_005246593.1:c.1735G>T, XM_005246594.1:c.1735G>T, XM_005246595.1:c.1735G>T, XM_005246596.1:c.1735G>T, XM_005246597.1:c.1735G>T, XM_005246598.1:c.1735G>T, XM_005246599.1:c.1735G>T, XM_005246600.1:c.1735G>T, XM_005246601.1:c.1735G>T, XM_005246602.1:c.1735G>T, XM_005246603.1:c.1735G>T, XM_005246604.1:c.1735G>T, XM_005246605.1:c.1735G>T, XM_005246606.1:c.1735G>T, XM_005246607.1:c.1735G>T, XM_005246608.1:c.1735G>T, XM_005246609.1:c.1735G>T, XM_005246610.1:c.1735G>T, XM_005246611.1:c.1735G>T, XM_005246612.1:c.1735G>T, XM_005246613.1:c.1735G>T, XM_005246614.1:c.1735G>T, XM_005246615.1:c.1735G>T, XM_005246616.1:c.1735G>T, XM_005246617.1:c.1735G>TVOUS05/11/2016
59NEBEx19NM_004543.4:c.1748T>Cp.Leu583Pro | p.L583PNM_001164507.1:c.1748T>C, NM_001164508.1:c.1748T>C, NM_001271208.1:c.1748T>C, NM_004543.3:c.1748T>C, NM_004543.4:c.1748T>C, XM_005246590.1:c.1748T>C, XM_005246591.1:c.1748T>C, XM_005246592.1:c.1748T>C, XM_005246593.1:c.1748T>C, XM_005246594.1:c.1748T>C, XM_005246595.1:c.1748T>C, XM_005246596.1:c.1748T>C, XM_005246597.1:c.1748T>C, XM_005246598.1:c.1748T>C, XM_005246599.1:c.1748T>C, XM_005246600.1:c.1748T>C, XM_005246601.1:c.1748T>C, XM_005246602.1:c.1748T>C, XM_005246603.1:c.1748T>C, XM_005246604.1:c.1748T>C, XM_005246605.1:c.1748T>C, XM_005246606.1:c.1748T>C, XM_005246607.1:c.1748T>C, XM_005246608.1:c.1748T>C, XM_005246609.1:c.1748T>C, XM_005246610.1:c.1748T>C, XM_005246611.1:c.1748T>C, XM_005246612.1:c.1748T>C, XM_005246613.1:c.1748T>C, XM_005246614.1:c.1748T>C, XM_005246615.1:c.1748T>C, XM_005246616.1:c.1748T>C, XM_005246617.1:c.1748T>CVOUS02/23/2015
60NEBEx19NM_004543.4:c.1782+4_1782+5delAGNM_001164507.1:c.1782+4_1782+5delAG, NM_001164508.1:c.1782+4_1782+5delAG, NM_001271208.1:c.1782+4_1782+5delAG, NM_004543.3:c.1782+4_1782+5delAG, NM_004543.4:c.1782+4_1782+5delAGVOUS11/14/2013
61NEBEx20NM_004543.4:c.1872G>Tp.Leu624Phe | p.L624FNM_001164507.1:c.1872G>T, NM_001164508.1:c.1872G>T, NM_001271208.1:c.1872G>T, NM_004543.3:c.1872G>T, NM_004543.4:c.1872G>T, XM_005246590.1:c.1872G>T, XM_005246591.1:c.1872G>T, XM_005246592.1:c.1872G>T, XM_005246593.1:c.1872G>T, XM_005246594.1:c.1872G>T, XM_005246595.1:c.1872G>T, XM_005246596.1:c.1872G>T, XM_005246597.1:c.1872G>T, XM_005246598.1:c.1872G>T, XM_005246599.1:c.1872G>T, XM_005246600.1:c.1872G>T, XM_005246601.1:c.1872G>T, XM_005246602.1:c.1872G>T, XM_005246603.1:c.1872G>T, XM_005246604.1:c.1872G>T, XM_005246605.1:c.1872G>T, XM_005246606.1:c.1872G>T, XM_005246607.1:c.1872G>T, XM_005246608.1:c.1872G>T, XM_005246609.1:c.1872G>T, XM_005246610.1:c.1872G>T, XM_005246611.1:c.1872G>T, XM_005246612.1:c.1872G>T, XM_005246613.1:c.1872G>T, XM_005246614.1:c.1872G>T, XM_005246615.1:c.1872G>T, XM_005246616.1:c.1872G>T, XM_005246617.1:c.1872G>TVOUS06/17/2015
62NEBEx22NM_004543.4:c.2020G>Ap.Val674Ile | p.V674INM_001164507.1:c.2020G>A, NM_001164508.1:c.2020G>A, NM_001271208.1:c.2020G>A, NM_004543.3:c.2020G>A, NM_004543.4:c.2020G>A, XM_005246590.1:c.2020G>A, XM_005246591.1:c.2020G>A, XM_005246592.1:c.2020G>A, XM_005246593.1:c.2020G>A, XM_005246594.1:c.2020G>A, XM_005246595.1:c.2020G>A, XM_005246596.1:c.2020G>A, XM_005246597.1:c.2020G>A, XM_005246598.1:c.2020G>A, XM_005246599.1:c.2020G>A, XM_005246600.1:c.2020G>A, XM_005246601.1:c.2020G>A, XM_005246602.1:c.2020G>A, XM_005246603.1:c.2020G>A, XM_005246604.1:c.2020G>A, XM_005246605.1:c.2020G>A, XM_005246606.1:c.2020G>A, XM_005246607.1:c.2020G>A, XM_005246608.1:c.2020G>A, XM_005246609.1:c.2020G>A, XM_005246610.1:c.2020G>A, XM_005246611.1:c.2020G>A, XM_005246612.1:c.2020G>A, XM_005246613.1:c.2020G>A, XM_005246614.1:c.2020G>A, XM_005246615.1:c.2020G>A, XM_005246616.1:c.2020G>A, XM_005246617.1:c.2020G>AVOUS01/28/2015
63NEBEx23NM_004543.4:c.2166A>Cp.Ile722= | p.I722=NM_001164507.1:c.2166A>C, NM_001164508.1:c.2166A>C, NM_001271208.1:c.2166A>C, NM_004543.3:c.2166A>C, NM_004543.4:c.2166A>C, XM_005246590.1:c.2166A>C, XM_005246591.1:c.2166A>C, XM_005246592.1:c.2166A>C, XM_005246593.1:c.2166A>C, XM_005246594.1:c.2166A>C, XM_005246595.1:c.2166A>C, XM_005246596.1:c.2166A>C, XM_005246597.1:c.2166A>C, XM_005246598.1:c.2166A>C, XM_005246599.1:c.2166A>C, XM_005246600.1:c.2166A>C, XM_005246601.1:c.2166A>C, XM_005246602.1:c.2166A>C, XM_005246603.1:c.2166A>C, XM_005246604.1:c.2166A>C, XM_005246605.1:c.2166A>C, XM_005246606.1:c.2166A>C, XM_005246607.1:c.2166A>C, XM_005246608.1:c.2166A>C, XM_005246609.1:c.2166A>C, XM_005246610.1:c.2166A>C, XM_005246611.1:c.2166A>C, XM_005246612.1:c.2166A>C, XM_005246613.1:c.2166A>C, XM_005246614.1:c.2166A>C, XM_005246615.1:c.2166A>C, XM_005246616.1:c.2166A>C, XM_005246617.1:c.2166A>CVOUS06/11/2015
64NEBEx24NM_004543.4:c.2283C>Tp.Ala761= | p.A761=NM_001164507.1:c.2283C>T, NM_001164508.1:c.2283C>T, NM_001271208.1:c.2283C>T, NM_004543.3:c.2283C>T, NM_004543.4:c.2283C>T, XM_005246590.1:c.2283C>T, XM_005246591.1:c.2283C>T, XM_005246592.1:c.2283C>T, XM_005246593.1:c.2283C>T, XM_005246594.1:c.2283C>T, XM_005246595.1:c.2283C>T, XM_005246596.1:c.2283C>T, XM_005246597.1:c.2283C>T, XM_005246598.1:c.2283C>T, XM_005246599.1:c.2283C>T, XM_005246600.1:c.2283C>T, XM_005246601.1:c.2283C>T, XM_005246602.1:c.2283C>T, XM_005246603.1:c.2283C>T, XM_005246604.1:c.2283C>T, XM_005246605.1:c.2283C>T, XM_005246606.1:c.2283C>T, XM_005246607.1:c.2283C>T, XM_005246608.1:c.2283C>T, XM_005246609.1:c.2283C>T, XM_005246610.1:c.2283C>T, XM_005246611.1:c.2283C>T, XM_005246612.1:c.2283C>T, XM_005246613.1:c.2283C>T, XM_005246614.1:c.2283C>T, XM_005246615.1:c.2283C>T, XM_005246616.1:c.2283C>T, XM_005246617.1:c.2283C>TVOUS09/12/2014
65NEBEx25NM_004543.4:c.2318A>Gp.Tyr773Cys | p.Y773CNM_001164507.1:c.2318A>G, NM_001164508.1:c.2318A>G, NM_001271208.1:c.2318A>G, NM_004543.3:c.2318A>G, NM_004543.4:c.2318A>G, XM_005246590.1:c.2318A>G, XM_005246591.1:c.2318A>G, XM_005246592.1:c.2318A>G, XM_005246593.1:c.2318A>G, XM_005246594.1:c.2318A>G, XM_005246595.1:c.2318A>G, XM_005246596.1:c.2318A>G, XM_005246597.1:c.2318A>G, XM_005246598.1:c.2318A>G, XM_005246599.1:c.2318A>G, XM_005246600.1:c.2318A>G, XM_005246601.1:c.2318A>G, XM_005246602.1:c.2318A>G, XM_005246603.1:c.2318A>G, XM_005246604.1:c.2318A>G, XM_005246605.1:c.2318A>G, XM_005246606.1:c.2318A>G, XM_005246607.1:c.2318A>G, XM_005246608.1:c.2318A>G, XM_005246609.1:c.2318A>G, XM_005246610.1:c.2318A>G, XM_005246611.1:c.2318A>G, XM_005246612.1:c.2318A>G, XM_005246613.1:c.2318A>G, XM_005246614.1:c.2318A>G, XM_005246615.1:c.2318A>G, XM_005246616.1:c.2318A>G, XM_005246617.1:c.2318A>GBenign08/28/2015 
66NEBEx25NM_004543.4:c.2343G>Ap.Lys781= | p.K781=NM_001164507.1:c.2343G>A, NM_001164508.1:c.2343G>A, NM_001271208.1:c.2343G>A, NM_004543.3:c.2343G>A, NM_004543.4:c.2343G>A, XM_005246590.1:c.2343G>A, XM_005246591.1:c.2343G>A, XM_005246592.1:c.2343G>A, XM_005246593.1:c.2343G>A, XM_005246594.1:c.2343G>A, XM_005246595.1:c.2343G>A, XM_005246596.1:c.2343G>A, XM_005246597.1:c.2343G>A, XM_005246598.1:c.2343G>A, XM_005246599.1:c.2343G>A, XM_005246600.1:c.2343G>A, XM_005246601.1:c.2343G>A, XM_005246602.1:c.2343G>A, XM_005246603.1:c.2343G>A, XM_005246604.1:c.2343G>A, XM_005246605.1:c.2343G>A, XM_005246606.1:c.2343G>A, XM_005246607.1:c.2343G>A, XM_005246608.1:c.2343G>A, XM_005246609.1:c.2343G>A, XM_005246610.1:c.2343G>A, XM_005246611.1:c.2343G>A, XM_005246612.1:c.2343G>A, XM_005246613.1:c.2343G>A, XM_005246614.1:c.2343G>A, XM_005246615.1:c.2343G>A, XM_005246616.1:c.2343G>A, XM_005246617.1:c.2343G>ABenign11/20/2014 
67NEBEx26NM_004543.4:c.2416-6G>TLRG_202t1:c.2416-6G>T, NM_001164507.1:c.2416-6G>T, NM_001164508.1:c.2416-6G>T, NM_001271208.1:c.2416-6G>T, NM_004543.3:c.2416-6G>T, NM_004543.4:c.2416-6G>T, XM_005246590.1:c.2416-6G>T, XM_005246591.1:c.2416-6G>T, XM_005246592.1:c.2416-6G>T, XM_005246593.1:c.2416-6G>T, XM_005246594.1:c.2416-6G>T, XM_005246595.1:c.2416-6G>T, XM_005246596.1:c.2416-6G>T, XM_005246597.1:c.2416-6G>T, XM_005246598.1:c.2416-6G>T, XM_005246599.1:c.2416-6G>T, XM_005246600.1:c.2416-6G>T, XM_005246601.1:c.2416-6G>T, XM_005246602.1:c.2416-6G>T, XM_005246603.1:c.2416-6G>T, XM_005246604.1:c.2416-6G>T, XM_005246605.1:c.2416-6G>T, XM_005246606.1:c.2416-6G>T, XM_005246607.1:c.2416-6G>T, XM_005246608.1:c.2416-6G>T, XM_005246609.1:c.2416-6G>T, XM_005246610.1:c.2416-6G>T, XM_005246611.1:c.2416-6G>T, XM_005246612.1:c.2416-6G>T, XM_005246613.1:c.2416-6G>T, XM_005246614.1:c.2416-6G>T, XM_005246615.1:c.2416-6G>T, XM_005246616.1:c.2416-6G>T, XM_005246617.1:c.2416-6G>TVOUS08/23/2016
68NEBEx26NM_004543.4:c.2459T>Gp.Phe820Cys | p.F820CNM_001164507.1:c.2459T>G, NM_001164508.1:c.2459T>G, NM_001271208.1:c.2459T>G, NM_004543.3:c.2459T>G, NM_004543.4:c.2459T>G, XM_005246590.1:c.2459T>G, XM_005246591.1:c.2459T>G, XM_005246592.1:c.2459T>G, XM_005246593.1:c.2459T>G, XM_005246594.1:c.2459T>G, XM_005246595.1:c.2459T>G, XM_005246596.1:c.2459T>G, XM_005246597.1:c.2459T>G, XM_005246598.1:c.2459T>G, XM_005246599.1:c.2459T>G, XM_005246600.1:c.2459T>G, XM_005246601.1:c.2459T>G, XM_005246602.1:c.2459T>G, XM_005246603.1:c.2459T>G, XM_005246604.1:c.2459T>G, XM_005246605.1:c.2459T>G, XM_005246606.1:c.2459T>G, XM_005246607.1:c.2459T>G, XM_005246608.1:c.2459T>G, XM_005246609.1:c.2459T>G, XM_005246610.1:c.2459T>G, XM_005246611.1:c.2459T>G, XM_005246612.1:c.2459T>G, XM_005246613.1:c.2459T>G, XM_005246614.1:c.2459T>G, XM_005246615.1:c.2459T>G, XM_005246616.1:c.2459T>G, XM_005246617.1:c.2459T>GVOUS12/11/2014
69NEBEx26NM_004543.4:c.2510A>Gp.Lys837Arg | p.K837RLRG_202t1:c.2510A>G, NM_001164507.1:c.2510A>G, NM_001164508.1:c.2510A>G, NM_001271208.1:c.2510A>G, NM_004543.3:c.2510A>G, NM_004543.4:c.2510A>G, XM_005246590.1:c.2510A>G, XM_005246591.1:c.2510A>G, XM_005246592.1:c.2510A>G, XM_005246593.1:c.2510A>G, XM_005246594.1:c.2510A>G, XM_005246595.1:c.2510A>G, XM_005246596.1:c.2510A>G, XM_005246597.1:c.2510A>G, XM_005246598.1:c.2510A>G, XM_005246599.1:c.2510A>G, XM_005246600.1:c.2510A>G, XM_005246601.1:c.2510A>G, XM_005246602.1:c.2510A>G, XM_005246603.1:c.2510A>G, XM_005246604.1:c.2510A>G, XM_005246605.1:c.2510A>G, XM_005246606.1:c.2510A>G, XM_005246607.1:c.2510A>G, XM_005246608.1:c.2510A>G, XM_005246609.1:c.2510A>G, XM_005246610.1:c.2510A>G, XM_005246611.1:c.2510A>G, XM_005246612.1:c.2510A>G, XM_005246613.1:c.2510A>G, XM_005246614.1:c.2510A>G, XM_005246615.1:c.2510A>G, XM_005246616.1:c.2510A>G, XM_005246617.1:c.2510A>GVOUS06/07/2016
70NEBEx27NM_004543.4:c.2573C>Tp.Ala858Val | p.A858VNM_001164507.1:c.2573C>T, NM_001164508.1:c.2573C>T, NM_001271208.1:c.2573C>T, NM_004543.3:c.2573C>T, NM_004543.4:c.2573C>T, XM_005246590.1:c.2573C>T, XM_005246591.1:c.2573C>T, XM_005246592.1:c.2573C>T, XM_005246593.1:c.2573C>T, XM_005246594.1:c.2573C>T, XM_005246595.1:c.2573C>T, XM_005246596.1:c.2573C>T, XM_005246597.1:c.2573C>T, XM_005246598.1:c.2573C>T, XM_005246599.1:c.2573C>T, XM_005246600.1:c.2573C>T, XM_005246601.1:c.2573C>T, XM_005246602.1:c.2573C>T, XM_005246603.1:c.2573C>T, XM_005246604.1:c.2573C>T, XM_005246605.1:c.2573C>T, XM_005246606.1:c.2573C>T, XM_005246607.1:c.2573C>T, XM_005246608.1:c.2573C>T, XM_005246609.1:c.2573C>T, XM_005246610.1:c.2573C>T, XM_005246611.1:c.2573C>T, XM_005246612.1:c.2573C>T, XM_005246613.1:c.2573C>T, XM_005246614.1:c.2573C>T, XM_005246615.1:c.2573C>T, XM_005246616.1:c.2573C>T, XM_005246617.1:c.2573C>TVOUS11/13/2015
71NEBEx28NM_004543.4:c.2832C>Tp.Ser944= | p.S944=NM_001164507.1:c.2832C>T, NM_001164508.1:c.2832C>T, NM_001271208.1:c.2832C>T, NM_004543.3:c.2832C>T, NM_004543.4:c.2832C>TBenign01/02/2014 
72NEBEx29NM_004543.4:c.2943G>Ap.Glu981= | p.E981=NM_001164507.1:c.2943G>A, NM_001164508.1:c.2943G>A, NM_001271208.1:c.2943G>A, NM_004543.3:c.2943G>A, NM_004543.4:c.2943G>AVOUS10/18/2013
73NEBEx31NM_004543.4:c.3081A>Tp.Lys1027Asn | p.K1027NNM_001164507.1:c.3081A>T, NM_001164508.1:c.3081A>T, NM_001271208.1:c.3081A>T, NM_004543.3:c.3081A>T, NM_004543.4:c.3081A>TBenign04/05/2013 
74NEBEx32NM_004543.4:c.3191A>Gp.Tyr1064Cys | p.Y1064CBenign03/12/2013 
75NEBEx32NM_004543.4:c.3211A>Cp.Ile1071Leu | p.I1071LLRG_202t1:c.3211A>C, NM_001164507.1:c.3211A>C, NM_001164508.1:c.3211A>C, NM_001271208.1:c.3211A>C, NM_004543.3:c.3211A>C, NM_004543.4:c.3211A>C, XM_005246590.1:c.3211A>C, XM_005246591.1:c.3211A>C, XM_005246592.1:c.3211A>C, XM_005246593.1:c.3211A>C, XM_005246594.1:c.3211A>C, XM_005246595.1:c.3211A>C, XM_005246596.1:c.3211A>C, XM_005246597.1:c.3211A>C, XM_005246598.1:c.3211A>C, XM_005246599.1:c.3211A>C, XM_005246600.1:c.3211A>C, XM_005246601.1:c.3211A>C, XM_005246602.1:c.3211A>C, XM_005246603.1:c.3211A>C, XM_005246604.1:c.3211A>C, XM_005246605.1:c.3211A>C, XM_005246606.1:c.3211A>C, XM_005246607.1:c.3211A>C, XM_005246608.1:c.3211A>C, XM_005246609.1:c.3211A>C, XM_005246610.1:c.3211A>C, XM_005246611.1:c.3211A>C, XM_005246612.1:c.3211A>C, XM_005246613.1:c.3211A>C, XM_005246614.1:c.3211A>C, XM_005246615.1:c.3211A>C, XM_005246616.1:c.3211A>C, XM_005246617.1:c.3211A>CVOUS08/11/2016
76NEBEx33NM_004543.4:c.3348C>Tp.Asn1116= | p.N1116=NM_001164507.1:c.3348C>T, NM_001164508.1:c.3348C>T, NM_001271208.1:c.3348C>T, NM_004543.3:c.3348C>T, NM_004543.4:c.3348C>T, XM_005246590.1:c.3348C>T, XM_005246591.1:c.3348C>T, XM_005246592.1:c.3348C>T, XM_005246593.1:c.3348C>T, XM_005246594.1:c.3348C>T, XM_005246595.1:c.3348C>T, XM_005246596.1:c.3348C>T, XM_005246597.1:c.3348C>T, XM_005246598.1:c.3348C>T, XM_005246599.1:c.3348C>T, XM_005246600.1:c.3348C>T, XM_005246601.1:c.3348C>T, XM_005246602.1:c.3348C>T, XM_005246603.1:c.3348C>T, XM_005246604.1:c.3348C>T, XM_005246605.1:c.3348C>T, XM_005246606.1:c.3348C>T, XM_005246607.1:c.3348C>T, XM_005246608.1:c.3348C>T, XM_005246609.1:c.3348C>T, XM_005246610.1:c.3348C>T, XM_005246611.1:c.3348C>T, XM_005246612.1:c.3348C>T, XM_005246613.1:c.3348C>T, XM_005246614.1:c.3348C>T, XM_005246615.1:c.3348C>T, XM_005246616.1:c.3348C>T, XM_005246617.1:c.3348C>TBenign11/06/2014 
77NEBEx33NM_004543.4:c.3412A>Gp.Asn1138Asp | p.N1138DNM_001164507.1:c.3412A>G, NM_001164508.1:c.3412A>G, NM_001271208.1:c.3412A>G, NM_004543.3:c.3412A>G, NM_004543.4:c.3412A>G, XM_005246590.1:c.3412A>G, XM_005246591.1:c.3412A>G, XM_005246592.1:c.3412A>G, XM_005246593.1:c.3412A>G, XM_005246594.1:c.3412A>G, XM_005246595.1:c.3412A>G, XM_005246596.1:c.3412A>G, XM_005246597.1:c.3412A>G, XM_005246598.1:c.3412A>G, XM_005246599.1:c.3412A>G, XM_005246600.1:c.3412A>G, XM_005246601.1:c.3412A>G, XM_005246602.1:c.3412A>G, XM_005246603.1:c.3412A>G, XM_005246604.1:c.3412A>G, XM_005246605.1:c.3412A>G, XM_005246606.1:c.3412A>G, XM_005246607.1:c.3412A>G, XM_005246608.1:c.3412A>G, XM_005246609.1:c.3412A>G, XM_005246610.1:c.3412A>G, XM_005246611.1:c.3412A>G, XM_005246612.1:c.3412A>G, XM_005246613.1:c.3412A>G, XM_005246614.1:c.3412A>G, XM_005246615.1:c.3412A>G, XM_005246616.1:c.3412A>G, XM_005246617.1:c.3412A>GBenign02/13/2015 
78NEBEx33NM_004543.4:c.3461A>Tp.Asp1154Val | p.D1154VNM_001164507.1:c.3461A>T, NM_001164508.1:c.3461A>T, NM_001271208.1:c.3461A>T, NM_004543.3:c.3461A>T, NM_004543.4:c.3461A>TVOUS01/23/2014
79NEBEx34NM_004543.4:c.3592_3594delAACNM_001164507.1:c.3592_3594delAAC, NM_001164508.1:c.3592_3594delAAC, NM_001271208.1:c.3592_3594delAAC, NM_004543.3:c.3592_3594delAAC, NM_004543.4:c.3592_3594delAAC, XM_005246590.1:c.3592_3594delAAC, XM_005246591.1:c.3592_3594delAAC, XM_005246592.1:c.3592_3594delAAC, XM_005246593.1:c.3592_3594delAAC, XM_005246594.1:c.3592_3594delAAC, XM_005246595.1:c.3592_3594delAAC, XM_005246596.1:c.3592_3594delAAC, XM_005246597.1:c.3592_3594delAAC, XM_005246598.1:c.3592_3594delAAC, XM_005246599.1:c.3592_3594delAAC, XM_005246600.1:c.3592_3594delAAC, XM_005246601.1:c.3592_3594delAAC, XM_005246602.1:c.3592_3594delAAC, XM_005246603.1:c.3592_3594delAAC, XM_005246604.1:c.3592_3594delAAC, XM_005246605.1:c.3592_3594delAAC, XM_005246606.1:c.3592_3594delAAC, XM_005246607.1:c.3592_3594delAAC, XM_005246608.1:c.3592_3594delAAC, XM_005246609.1:c.3592_3594delAAC, XM_005246610.1:c.3592_3594delAAC, XM_005246611.1:c.3592_3594delAAC, XM_005246612.1:c.3592_3594delAAC, XM_005246613.1:c.3592_3594delAAC, XM_005246614.1:c.3VOUS08/25/2015
80NEBEx34NM_004543.4:c.3593A>Gp.Asn1198Ser | p.N1198SLRG_202t1:c.3593A>G, NM_001164507.1:c.3593A>G, NM_001164508.1:c.3593A>G, NM_001271208.1:c.3593A>G, NM_004543.3:c.3593A>G, NM_004543.4:c.3593A>G, XM_005246590.1:c.3593A>G, XM_005246591.1:c.3593A>G, XM_005246592.1:c.3593A>G, XM_005246593.1:c.3593A>G, XM_005246594.1:c.3593A>G, XM_005246595.1:c.3593A>G, XM_005246596.1:c.3593A>G, XM_005246597.1:c.3593A>G, XM_005246598.1:c.3593A>G, XM_005246599.1:c.3593A>G, XM_005246600.1:c.3593A>G, XM_005246601.1:c.3593A>G, XM_005246602.1:c.3593A>G, XM_005246603.1:c.3593A>G, XM_005246604.1:c.3593A>G, XM_005246605.1:c.3593A>G, XM_005246606.1:c.3593A>G, XM_005246607.1:c.3593A>G, XM_005246608.1:c.3593A>G, XM_005246609.1:c.3593A>G, XM_005246610.1:c.3593A>G, XM_005246611.1:c.3593A>G, XM_005246612.1:c.3593A>G, XM_005246613.1:c.3593A>G, XM_005246614.1:c.3593A>G, XM_005246615.1:c.3593A>G, XM_005246616.1:c.3593A>G, XM_005246617.1:c.3593A>GBenign10/27/2016 
81NEBEx34NM_004543.4:c.3623T>Cp.Ile1208Thr | p.I1208TNM_001164507.1:c.3623T>C, NM_001164508.1:c.3623T>C, NM_001271208.1:c.3623T>C, NM_004543.3:c.3623T>C, NM_004543.4:c.3623T>C, XM_005246590.1:c.3623T>C, XM_005246591.1:c.3623T>C, XM_005246592.1:c.3623T>C, XM_005246593.1:c.3623T>C, XM_005246594.1:c.3623T>C, XM_005246595.1:c.3623T>C, XM_005246596.1:c.3623T>C, XM_005246597.1:c.3623T>C, XM_005246598.1:c.3623T>C, XM_005246599.1:c.3623T>C, XM_005246600.1:c.3623T>C, XM_005246601.1:c.3623T>C, XM_005246602.1:c.3623T>C, XM_005246603.1:c.3623T>C, XM_005246604.1:c.3623T>C, XM_005246605.1:c.3623T>C, XM_005246606.1:c.3623T>C, XM_005246607.1:c.3623T>C, XM_005246608.1:c.3623T>C, XM_005246609.1:c.3623T>C, XM_005246610.1:c.3623T>C, XM_005246611.1:c.3623T>C, XM_005246612.1:c.3623T>C, XM_005246613.1:c.3623T>C, XM_005246614.1:c.3623T>C, XM_005246615.1:c.3623T>C, XM_005246616.1:c.3623T>C, XM_005246617.1:c.3623T>CVOUS02/26/2015
82NEBEx34NM_004543.4:c.3636C>Tp.Asp1212= | p.D1212=LRG_202t1:c.3636C>T, NM_001164507.1:c.3636C>T, NM_001164508.1:c.3636C>T, NM_001271208.1:c.3636C>T, NM_004543.3:c.3636C>T, NM_004543.4:c.3636C>T, XM_005246590.1:c.3636C>T, XM_005246591.1:c.3636C>T, XM_005246592.1:c.3636C>T, XM_005246593.1:c.3636C>T, XM_005246594.1:c.3636C>T, XM_005246595.1:c.3636C>T, XM_005246596.1:c.3636C>T, XM_005246597.1:c.3636C>T, XM_005246598.1:c.3636C>T, XM_005246599.1:c.3636C>T, XM_005246600.1:c.3636C>T, XM_005246601.1:c.3636C>T, XM_005246602.1:c.3636C>T, XM_005246603.1:c.3636C>T, XM_005246604.1:c.3636C>T, XM_005246605.1:c.3636C>T, XM_005246606.1:c.3636C>T, XM_005246607.1:c.3636C>T, XM_005246608.1:c.3636C>T, XM_005246609.1:c.3636C>T, XM_005246610.1:c.3636C>T, XM_005246611.1:c.3636C>T, XM_005246612.1:c.3636C>T, XM_005246613.1:c.3636C>T, XM_005246614.1:c.3636C>T, XM_005246615.1:c.3636C>T, XM_005246616.1:c.3636C>T, XM_005246617.1:c.3636C>TBenign11/29/2016 
83NEBEx34NM_004543.4:c.3637G>Ap.Val1213Ile | p.V1213INM_001164507.1:c.3637G>A, NM_001164508.1:c.3637G>A, NM_001271208.1:c.3637G>A, NM_004543.3:c.3637G>A, NM_004543.4:c.3637G>A, XM_005246590.1:c.3637G>A, XM_005246591.1:c.3637G>A, XM_005246592.1:c.3637G>A, XM_005246593.1:c.3637G>A, XM_005246594.1:c.3637G>A, XM_005246595.1:c.3637G>A, XM_005246596.1:c.3637G>A, XM_005246597.1:c.3637G>A, XM_005246598.1:c.3637G>A, XM_005246599.1:c.3637G>A, XM_005246600.1:c.3637G>A, XM_005246601.1:c.3637G>A, XM_005246602.1:c.3637G>A, XM_005246603.1:c.3637G>A, XM_005246604.1:c.3637G>A, XM_005246605.1:c.3637G>A, XM_005246606.1:c.3637G>A, XM_005246607.1:c.3637G>A, XM_005246608.1:c.3637G>A, XM_005246609.1:c.3637G>A, XM_005246610.1:c.3637G>A, XM_005246611.1:c.3637G>A, XM_005246612.1:c.3637G>A, XM_005246613.1:c.3637G>A, XM_005246614.1:c.3637G>A, XM_005246615.1:c.3637G>A, XM_005246616.1:c.3637G>A, XM_005246617.1:c.3637G>AVOUS06/20/2014
84NEBEx34NM_004543.4:c.3639C>Tp.Val1213= | p.V1213=NM_001164507.1:c.3639C>T, NM_001164508.1:c.3639C>T, NM_001271208.1:c.3639C>T, NM_004543.3:c.3639C>T, NM_004543.4:c.3639C>T, XM_005246590.1:c.3639C>T, XM_005246591.1:c.3639C>T, XM_005246592.1:c.3639C>T, XM_005246593.1:c.3639C>T, XM_005246594.1:c.3639C>T, XM_005246595.1:c.3639C>T, XM_005246596.1:c.3639C>T, XM_005246597.1:c.3639C>T, XM_005246598.1:c.3639C>T, XM_005246599.1:c.3639C>T, XM_005246600.1:c.3639C>T, XM_005246601.1:c.3639C>T, XM_005246602.1:c.3639C>T, XM_005246603.1:c.3639C>T, XM_005246604.1:c.3639C>T, XM_005246605.1:c.3639C>T, XM_005246606.1:c.3639C>T, XM_005246607.1:c.3639C>T, XM_005246608.1:c.3639C>T, XM_005246609.1:c.3639C>T, XM_005246610.1:c.3639C>T, XM_005246611.1:c.3639C>T, XM_005246612.1:c.3639C>T, XM_005246613.1:c.3639C>T, XM_005246614.1:c.3639C>T, XM_005246615.1:c.3639C>T, XM_005246616.1:c.3639C>T, XM_005246617.1:c.3639C>TBenign12/28/2015 
85NEBEx34NM_004543.4:c.3721G>Tp.Val1241Leu | p.V1241LNM_001164507.1:c.3721G>T, NM_001164508.1:c.3721G>T, NM_001271208.1:c.3721G>T, NM_004543.3:c.3721G>T, NM_004543.4:c.3721G>T, XM_005246590.1:c.3721G>T, XM_005246591.1:c.3721G>T, XM_005246592.1:c.3721G>T, XM_005246593.1:c.3721G>T, XM_005246594.1:c.3721G>T, XM_005246595.1:c.3721G>T, XM_005246596.1:c.3721G>T, XM_005246597.1:c.3721G>T, XM_005246598.1:c.3721G>T, XM_005246599.1:c.3721G>T, XM_005246600.1:c.3721G>T, XM_005246601.1:c.3721G>T, XM_005246602.1:c.3721G>T, XM_005246603.1:c.3721G>T, XM_005246604.1:c.3721G>T, XM_005246605.1:c.3721G>T, XM_005246606.1:c.3721G>T, XM_005246607.1:c.3721G>T, XM_005246608.1:c.3721G>T, XM_005246609.1:c.3721G>T, XM_005246610.1:c.3721G>T, XM_005246611.1:c.3721G>T, XM_005246612.1:c.3721G>T, XM_005246613.1:c.3721G>T, XM_005246614.1:c.3721G>T, XM_005246615.1:c.3721G>T, XM_005246616.1:c.3721G>T, XM_005246617.1:c.3721G>TVOUS10/28/2014
86NEBEx35NM_004543.4:c.3879+8G>ANM_001164507.1:c.3879+8G>A, NM_001164508.1:c.3879+8G>A, NM_001271208.1:c.3879+8G>A, NM_004543.3:c.3879+8G>A, NM_004543.4:c.3879+8G>ALikely benign08/22/2019 
87NEBEx35NM_004543.4:c.3879+20G>TNM_001164507.1:c.3879+20G>T, NM_001164508.1:c.3879+20G>T, NM_001271208.1:c.3879+20G>T, NM_004543.3:c.3879+20G>T, NM_004543.4:c.3879+20G>TBenign11/26/2013 
88NEBEx36NM_004543.4:c.3901T>Cp.Tyr1301His | p.Y1301HNM_001164507.1:c.3901T>C, NM_001164508.1:c.3901T>C, NM_001271208.1:c.3901T>C, NM_004543.3:c.3901T>C, NM_004543.4:c.3901T>CBenign04/05/2013 
89NEBEx37NM_004543.4:c.4018A>Cp.Lys1340Gln | p.K1340QVOUS09/30/2013
90NEBEx37NM_004543.4:c.4127A>Gp.Asn1376Ser | p.N1376SLRG_202t1:c.4127A>G, NM_001164507.1:c.4127A>G, NM_001164508.1:c.4127A>G, NM_001271208.1:c.4127A>G, NM_004543.3:c.4127A>G, NM_004543.4:c.4127A>G, XM_005246590.1:c.4127A>G, XM_005246591.1:c.4127A>G, XM_005246592.1:c.4127A>G, XM_005246593.1:c.4127A>G, XM_005246594.1:c.4127A>G, XM_005246595.1:c.4127A>G, XM_005246596.1:c.4127A>G, XM_005246597.1:c.4127A>G, XM_005246598.1:c.4127A>G, XM_005246599.1:c.4127A>G, XM_005246600.1:c.4127A>G, XM_005246601.1:c.4127A>G, XM_005246602.1:c.4127A>G, XM_005246603.1:c.4127A>G, XM_005246604.1:c.4127A>G, XM_005246605.1:c.4127A>G, XM_005246606.1:c.4127A>G, XM_005246607.1:c.4127A>G, XM_005246608.1:c.4127A>G, XM_005246609.1:c.4127A>G, XM_005246610.1:c.4127A>G, XM_005246611.1:c.4127A>G, XM_005246612.1:c.4127A>G, XM_005246613.1:c.4127A>G, XM_005246614.1:c.4127A>G, XM_005246615.1:c.4127A>G, XM_005246616.1:c.4127A>G, XM_005246617.1:c.4127A>GVOUS08/10/2017
91NEBEx37NM_004543.4:c.4149C>Tp.Thr1383= | p.T1383=NM_001164507.1:c.4149C>T, NM_001164508.1:c.4149C>T, NM_001271208.1:c.4149C>T, NM_004543.3:c.4149C>T, NM_004543.4:c.4149C>T, XM_005246590.1:c.4149C>T, XM_005246591.1:c.4149C>T, XM_005246592.1:c.4149C>T, XM_005246593.1:c.4149C>T, XM_005246594.1:c.4149C>T, XM_005246595.1:c.4149C>T, XM_005246596.1:c.4149C>T, XM_005246597.1:c.4149C>T, XM_005246598.1:c.4149C>T, XM_005246599.1:c.4149C>T, XM_005246600.1:c.4149C>T, XM_005246601.1:c.4149C>T, XM_005246602.1:c.4149C>T, XM_005246603.1:c.4149C>T, XM_005246604.1:c.4149C>T, XM_005246605.1:c.4149C>T, XM_005246606.1:c.4149C>T, XM_005246607.1:c.4149C>T, XM_005246608.1:c.4149C>T, XM_005246609.1:c.4149C>T, XM_005246610.1:c.4149C>T, XM_005246611.1:c.4149C>T, XM_005246612.1:c.4149C>T, XM_005246613.1:c.4149C>T, XM_005246614.1:c.4149C>T, XM_005246615.1:c.4149C>T, XM_005246616.1:c.4149C>T, XM_005246617.1:c.4149C>TVOUS12/23/2014
92NEBEx37NM_004543.4:c.4198G>Ap.Ala1400Thr | p.A1400TLRG_202t1:c.4198G>A, NM_001164507.1:c.4198G>A, NM_001164508.1:c.4198G>A, NM_001271208.1:c.4198G>A, NM_004543.3:c.4198G>A, NM_004543.4:c.4198G>A, XM_005246590.1:c.4198G>A, XM_005246591.1:c.4198G>A, XM_005246592.1:c.4198G>A, XM_005246593.1:c.4198G>A, XM_005246594.1:c.4198G>A, XM_005246595.1:c.4198G>A, XM_005246596.1:c.4198G>A, XM_005246597.1:c.4198G>A, XM_005246598.1:c.4198G>A, XM_005246599.1:c.4198G>A, XM_005246600.1:c.4198G>A, XM_005246601.1:c.4198G>A, XM_005246602.1:c.4198G>A, XM_005246603.1:c.4198G>A, XM_005246604.1:c.4198G>A, XM_005246605.1:c.4198G>A, XM_005246606.1:c.4198G>A, XM_005246607.1:c.4198G>A, XM_005246608.1:c.4198G>A, XM_005246609.1:c.4198G>A, XM_005246610.1:c.4198G>A, XM_005246611.1:c.4198G>A, XM_005246612.1:c.4198G>A, XM_005246613.1:c.4198G>A, XM_005246614.1:c.4198G>A, XM_005246615.1:c.4198G>A, XM_005246616.1:c.4198G>A, XM_005246617.1:c.4198G>AVOUS08/23/2016
93NEBEx37NM_004543.4:c.4206T>Ap.Asn1402Lys | p.N1402KNM_001164507.1:c.4206T>A, NM_001164508.1:c.4206T>A, NM_001271208.1:c.4206T>A, NM_004543.3:c.4206T>A, NM_004543.4:c.4206T>A, XM_005246590.1:c.4206T>A, XM_005246591.1:c.4206T>A, XM_005246592.1:c.4206T>A, XM_005246593.1:c.4206T>A, XM_005246594.1:c.4206T>A, XM_005246595.1:c.4206T>A, XM_005246596.1:c.4206T>A, XM_005246597.1:c.4206T>A, XM_005246598.1:c.4206T>A, XM_005246599.1:c.4206T>A, XM_005246600.1:c.4206T>A, XM_005246601.1:c.4206T>A, XM_005246602.1:c.4206T>A, XM_005246603.1:c.4206T>A, XM_005246604.1:c.4206T>A, XM_005246605.1:c.4206T>A, XM_005246606.1:c.4206T>A, XM_005246607.1:c.4206T>A, XM_005246608.1:c.4206T>A, XM_005246609.1:c.4206T>A, XM_005246610.1:c.4206T>A, XM_005246611.1:c.4206T>A, XM_005246612.1:c.4206T>A, XM_005246613.1:c.4206T>A, XM_005246614.1:c.4206T>A, XM_005246615.1:c.4206T>A, XM_005246616.1:c.4206T>A, XM_005246617.1:c.4206T>ABenign12/28/2015 
94NEBEx37NM_004543.4:c.4221G>Ap.Gln1407= | p.Q1407=NM_001164507.1:c.4221G>A, NM_001164508.1:c.4221G>A, NM_001271208.1:c.4221G>A, NM_004543.3:c.4221G>A, NM_004543.4:c.4221G>A, XM_005246590.1:c.4221G>A, XM_005246591.1:c.4221G>A, XM_005246592.1:c.4221G>A, XM_005246593.1:c.4221G>A, XM_005246594.1:c.4221G>A, XM_005246595.1:c.4221G>A, XM_005246596.1:c.4221G>A, XM_005246597.1:c.4221G>A, XM_005246598.1:c.4221G>A, XM_005246599.1:c.4221G>A, XM_005246600.1:c.4221G>A, XM_005246601.1:c.4221G>A, XM_005246602.1:c.4221G>A, XM_005246603.1:c.4221G>A, XM_005246604.1:c.4221G>A, XM_005246605.1:c.4221G>A, XM_005246606.1:c.4221G>A, XM_005246607.1:c.4221G>A, XM_005246608.1:c.4221G>A, XM_005246609.1:c.4221G>A, XM_005246610.1:c.4221G>A, XM_005246611.1:c.4221G>A, XM_005246612.1:c.4221G>A, XM_005246613.1:c.4221G>A, XM_005246614.1:c.4221G>A, XM_005246615.1:c.4221G>A, XM_005246616.1:c.4221G>A, XM_005246617.1:c.4221G>AVOUS06/10/2015
95NEBEx37NM_004543.4:c.4272G>Cp.Thr1424= | p.T1424=NM_001164507.1:c.4272G>C, NM_001164508.1:c.4272G>C, NM_001271208.1:c.4272G>C, NM_004543.3:c.4272G>C, NM_004543.4:c.4272G>C, XM_005246590.1:c.4272G>C, XM_005246591.1:c.4272G>C, XM_005246592.1:c.4272G>C, XM_005246593.1:c.4272G>C, XM_005246594.1:c.4272G>C, XM_005246595.1:c.4272G>C, XM_005246596.1:c.4272G>C, XM_005246597.1:c.4272G>C, XM_005246598.1:c.4272G>C, XM_005246599.1:c.4272G>C, XM_005246600.1:c.4272G>C, XM_005246601.1:c.4272G>C, XM_005246602.1:c.4272G>C, XM_005246603.1:c.4272G>C, XM_005246604.1:c.4272G>C, XM_005246605.1:c.4272G>C, XM_005246606.1:c.4272G>C, XM_005246607.1:c.4272G>C, XM_005246608.1:c.4272G>C, XM_005246609.1:c.4272G>C, XM_005246610.1:c.4272G>C, XM_005246611.1:c.4272G>C, XM_005246612.1:c.4272G>C, XM_005246613.1:c.4272G>C, XM_005246614.1:c.4272G>C, XM_005246615.1:c.4272G>C, XM_005246616.1:c.4272G>C, XM_005246617.1:c.4272G>CVOUS02/09/2015
96NEBEx37NM_004543.4:c.4283A>Gp.Asn1428Ser | p.N1428SLRG_202t1:c.4283A>G, NM_001164507.1:c.4283A>G, NM_001164508.1:c.4283A>G, NM_001271208.1:c.4283A>G, NM_004543.3:c.4283A>G, NM_004543.4:c.4283A>G, XM_005246590.1:c.4283A>G, XM_005246591.1:c.4283A>G, XM_005246592.1:c.4283A>G, XM_005246593.1:c.4283A>G, XM_005246594.1:c.4283A>G, XM_005246595.1:c.4283A>G, XM_005246596.1:c.4283A>G, XM_005246597.1:c.4283A>G, XM_005246598.1:c.4283A>G, XM_005246599.1:c.4283A>G, XM_005246600.1:c.4283A>G, XM_005246601.1:c.4283A>G, XM_005246602.1:c.4283A>G, XM_005246603.1:c.4283A>G, XM_005246604.1:c.4283A>G, XM_005246605.1:c.4283A>G, XM_005246606.1:c.4283A>G, XM_005246607.1:c.4283A>G, XM_005246608.1:c.4283A>G, XM_005246609.1:c.4283A>G, XM_005246610.1:c.4283A>G, XM_005246611.1:c.4283A>G, XM_005246612.1:c.4283A>G, XM_005246613.1:c.4283A>G, XM_005246614.1:c.4283A>G, XM_005246615.1:c.4283A>G, XM_005246616.1:c.4283A>G, XM_005246617.1:c.4283A>GVOUS04/12/2021
97NEBEx37NM_004543.4:c.4299+7A>GLRG_202t1:c.4299+7A>G, NM_001164507.1:c.4299+7A>G, NM_001164508.1:c.4299+7A>G, NM_001271208.1:c.4299+7A>G, NM_004543.3:c.4299+7A>G, NM_004543.4:c.4299+7A>G, XM_005246590.1:c.4299+7A>G, XM_005246591.1:c.4299+7A>G, XM_005246592.1:c.4299+7A>G, XM_005246593.1:c.4299+7A>G, XM_005246594.1:c.4299+7A>G, XM_005246595.1:c.4299+7A>G, XM_005246596.1:c.4299+7A>G, XM_005246597.1:c.4299+7A>G, XM_005246598.1:c.4299+7A>G, XM_005246599.1:c.4299+7A>G, XM_005246600.1:c.4299+7A>G, XM_005246601.1:c.4299+7A>G, XM_005246602.1:c.4299+7A>G, XM_005246603.1:c.4299+7A>G, XM_005246604.1:c.4299+7A>G, XM_005246605.1:c.4299+7A>G, XM_005246606.1:c.4299+7A>G, XM_005246607.1:c.4299+7A>G, XM_005246608.1:c.4299+7A>G, XM_005246609.1:c.4299+7A>G, XM_005246610.1:c.4299+7A>G, XM_005246611.1:c.4299+7A>G, XM_005246612.1:c.4299+7A>G, XM_005246613.1:c.4299+7A>G, XM_005246614.1:c.4299+7A>G, XM_005246615.1:c.4299+7A>G, XM_005246616.1:c.4299+7A>G, XM_005246617.1:c.4299+7A>GVOUS11/10/2017
98NEBEx38NM_004543.4:c.4466G>Ap.Gly1489Asp | p.G1489DNM_001164507.1:c.4466G>A, NM_001164508.1:c.4466G>A, NM_001271208.1:c.4466G>A, NM_004543.3:c.4466G>A, NM_004543.4:c.4466G>A, XM_005246590.1:c.4466G>A, XM_005246591.1:c.4466G>A, XM_005246592.1:c.4466G>A, XM_005246593.1:c.4466G>A, XM_005246594.1:c.4466G>A, XM_005246595.1:c.4466G>A, XM_005246596.1:c.4466G>A, XM_005246597.1:c.4466G>A, XM_005246598.1:c.4466G>A, XM_005246599.1:c.4466G>A, XM_005246600.1:c.4466G>A, XM_005246601.1:c.4466G>A, XM_005246602.1:c.4466G>A, XM_005246603.1:c.4466G>A, XM_005246604.1:c.4466G>A, XM_005246605.1:c.4466G>A, XM_005246606.1:c.4466G>A, XM_005246607.1:c.4466G>A, XM_005246608.1:c.4466G>A, XM_005246609.1:c.4466G>A, XM_005246610.1:c.4466G>A, XM_005246611.1:c.4466G>A, XM_005246612.1:c.4466G>A, XM_005246613.1:c.4466G>A, XM_005246614.1:c.4466G>A, XM_005246615.1:c.4466G>A, XM_005246616.1:c.4466G>A, XM_005246617.1:c.4466G>ABenign12/28/2015 
99NEBEx38NM_004543.4:c.4471G>Ap.Val1491Met | p.V1491MNM_001164507.1:c.4471G>A, NM_001164508.1:c.4471G>A, NM_001271208.1:c.4471G>A, NM_004543.3:c.4471G>A, NM_004543.4:c.4471G>ABenign04/05/2013 
100NEBEx40NM_004543.4:c.4649A>Gp.Lys1550Arg | p.K1550RNM_001164507.1:c.4649A>G, NM_001164508.1:c.4649A>G, NM_001271208.1:c.4649A>G, NM_004543.3:c.4649A>G, NM_004543.4:c.4649A>G, XM_005246590.1:c.4649A>G, XM_005246591.1:c.4649A>G, XM_005246592.1:c.4649A>G, XM_005246593.1:c.4649A>G, XM_005246594.1:c.4649A>G, XM_005246595.1:c.4649A>G, XM_005246596.1:c.4649A>G, XM_005246597.1:c.4649A>G, XM_005246598.1:c.4649A>G, XM_005246599.1:c.4649A>G, XM_005246600.1:c.4649A>G, XM_005246601.1:c.4649A>G, XM_005246602.1:c.4649A>G, XM_005246603.1:c.4649A>G, XM_005246604.1:c.4649A>G, XM_005246605.1:c.4649A>G, XM_005246606.1:c.4649A>G, XM_005246607.1:c.4649A>G, XM_005246608.1:c.4649A>G, XM_005246609.1:c.4649A>G, XM_005246610.1:c.4649A>G, XM_005246611.1:c.4649A>G, XM_005246612.1:c.4649A>G, XM_005246613.1:c.4649A>G, XM_005246614.1:c.4649A>G, XM_005246615.1:c.4649A>G, XM_005246617.1:c.4649A>GVOUS07/23/2013
101NEBEx41NM_004543.4:c.4834C>Tp.Arg1612Cys | p.R1612CLRG_202t1:c.4834C>T, NM_001164507.1:c.4834C>T, NM_001164508.1:c.4834C>T, NM_001271208.1:c.4834C>T, NM_004543.3:c.4834C>T, NM_004543.4:c.4834C>T, XM_005246590.1:c.4834C>T, XM_005246591.1:c.4834C>T, XM_005246592.1:c.4834C>T, XM_005246593.1:c.4834C>T, XM_005246594.1:c.4834C>T, XM_005246595.1:c.4834C>T, XM_005246596.1:c.4834C>T, XM_005246597.1:c.4834C>T, XM_005246598.1:c.4834C>T, XM_005246599.1:c.4834C>T, XM_005246600.1:c.4834C>T, XM_005246601.1:c.4834C>T, XM_005246602.1:c.4834C>T, XM_005246603.1:c.4834C>T, XM_005246604.1:c.4834C>T, XM_005246605.1:c.4834C>T, XM_005246606.1:c.4834C>T, XM_005246607.1:c.4834C>T, XM_005246608.1:c.4834C>T, XM_005246609.1:c.4834C>T, XM_005246610.1:c.4834C>T, XM_005246611.1:c.4834C>T, XM_005246612.1:c.4834C>T, XM_005246613.1:c.4834C>T, XM_005246614.1:c.4834C>T, XM_005246615.1:c.4834C>T, XM_005246616.1:c.4834C>T, XM_005246617.1:c.4834C>TVOUS07/31/2017
102NEBEx41NM_004543.4:c.4835G>Ap.Arg1612His | p.R1612HLRG_202t1:c.4835G>A, NM_001164507.1:c.4835G>A, NM_001164508.1:c.4835G>A, NM_001271208.1:c.4835G>A, NM_004543.3:c.4835G>A, NM_004543.4:c.4835G>A, XM_005246590.1:c.4835G>A, XM_005246591.1:c.4835G>A, XM_005246592.1:c.4835G>A, XM_005246593.1:c.4835G>A, XM_005246594.1:c.4835G>A, XM_005246595.1:c.4835G>A, XM_005246596.1:c.4835G>A, XM_005246597.1:c.4835G>A, XM_005246598.1:c.4835G>A, XM_005246599.1:c.4835G>A, XM_005246600.1:c.4835G>A, XM_005246601.1:c.4835G>A, XM_005246602.1:c.4835G>A, XM_005246603.1:c.4835G>A, XM_005246604.1:c.4835G>A, XM_005246605.1:c.4835G>A, XM_005246606.1:c.4835G>A, XM_005246607.1:c.4835G>A, XM_005246608.1:c.4835G>A, XM_005246609.1:c.4835G>A, XM_005246610.1:c.4835G>A, XM_005246611.1:c.4835G>A, XM_005246612.1:c.4835G>A, XM_005246613.1:c.4835G>A, XM_005246614.1:c.4835G>A, XM_005246615.1:c.4835G>A, XM_005246616.1:c.4835G>A, XM_005246617.1:c.4835G>AVOUS08/25/2016
103NEBEx41NM_004543.4:c.4945_4947delTACp.Tyr1649del | p.Y1649delLRG_202t1:c.4945_4947delTAC, NM_001164507.1:c.4945_4947delTAC, NM_001164508.1:c.4945_4947delTAC, NM_001271208.1:c.4945_4947delTAC, NM_004543.3:c.4945_4947delTAC, NM_004543.4:c.4945_4947delTAC, XM_005246590.1:c.4945_4947delTAC, XM_005246591.1:c.4945_4947delTAC, XM_005246592.1:c.4945_4947delTAC, XM_005246593.1:c.4945_4947delTAC, XM_005246594.1:c.4945_4947delTAC, XM_005246595.1:c.4945_4947delTAC, XM_005246596.1:c.4945_4947delTAC, XM_005246597.1:c.4945_4947delTAC, XM_005246598.1:c.4945_4947delTAC, XM_005246599.1:c.4945_4947delTAC, XM_005246600.1:c.4945_4947delTAC, XM_005246601.1:c.4945_4947delTAC, XM_005246602.1:c.4945_4947delTAC, XM_005246603.1:c.4945_4947delTAC, XM_005246604.1:c.4945_4947delTAC, XM_005246605.1:c.4945_4947delTAC, XM_005246606.1:c.4945_4947delTAC, XM_005246607.1:c.4945_4947delTAC, XM_005246608.1:c.4945_4947delTAC, XM_005246609.1:c.4945_4947delTAC, XM_005246610.1:c.4945_4947delTAC, XM_005246611.1:c.4945_4947delTAC, XM_005246612.1:c.4945_4947delTAC, XM_005246613.1:c.4945_4VOUS06/02/2017
104NEBEx41NM_004543.4:c.4980C>Tp.Pro1660= | p.P1660=LRG_202t1:c.4980C>T, NM_001164507.1:c.4980C>T, NM_001164508.1:c.4980C>T, NM_001271208.1:c.4980C>T, NM_004543.3:c.4980C>T, NM_004543.4:c.4980C>T, XM_005246590.1:c.4980C>T, XM_005246591.1:c.4980C>T, XM_005246592.1:c.4980C>T, XM_005246593.1:c.4980C>T, XM_005246594.1:c.4980C>T, XM_005246595.1:c.4980C>T, XM_005246596.1:c.4980C>T, XM_005246597.1:c.4980C>T, XM_005246598.1:c.4980C>T, XM_005246599.1:c.4980C>T, XM_005246600.1:c.4980C>T, XM_005246601.1:c.4980C>T, XM_005246602.1:c.4980C>T, XM_005246603.1:c.4980C>T, XM_005246604.1:c.4980C>T, XM_005246605.1:c.4980C>T, XM_005246606.1:c.4980C>T, XM_005246607.1:c.4980C>T, XM_005246608.1:c.4980C>T, XM_005246609.1:c.4980C>T, XM_005246610.1:c.4980C>T, XM_005246611.1:c.4980C>T, XM_005246612.1:c.4980C>T, XM_005246613.1:c.4980C>T, XM_005246614.1:c.4980C>T, XM_005246615.1:c.4980C>T, XM_005246616.1:c.4980C>T, XM_005246617.1:c.4980C>TBenign11/29/2016 
105NEBEx42NM_004543.4:c.5102T>Cp.Val1701Ala | p.V1701ANM_001164507.1:c.5102T>C, NM_001164508.1:c.5102T>C, NM_001271208.1:c.5102T>C, NM_004543.3:c.5102T>C, NM_004543.4:c.5102T>C, XM_005246590.1:c.5102T>C, XM_005246591.1:c.5102T>C, XM_005246592.1:c.5102T>C, XM_005246593.1:c.5102T>C, XM_005246594.1:c.5102T>C, XM_005246595.1:c.5102T>C, XM_005246596.1:c.5102T>C, XM_005246597.1:c.5102T>C, XM_005246598.1:c.5102T>C, XM_005246599.1:c.5102T>C, XM_005246600.1:c.5102T>C, XM_005246601.1:c.5102T>C, XM_005246602.1:c.5102T>C, XM_005246603.1:c.5102T>C, XM_005246604.1:c.5102T>C, XM_005246605.1:c.5102T>C, XM_005246606.1:c.5102T>C, XM_005246607.1:c.5102T>C, XM_005246608.1:c.5102T>C, XM_005246609.1:c.5102T>C, XM_005246610.1:c.5102T>C, XM_005246611.1:c.5102T>C, XM_005246612.1:c.5102T>C, XM_005246613.1:c.5102T>C, XM_005246614.1:c.5102T>C, XM_005246615.1:c.5102T>C, XM_005246616.1:c.5102T>C, XM_005246617.1:c.5102T>CBenign02/13/2015 
106NEBEx42NM_004543.4:c.5181C>Tp.Tyr1727= | p.Y1727=LRG_202t1:c.5181C>T, NM_001164507.1:c.5181C>T, NM_001164508.1:c.5181C>T, NM_001271208.1:c.5181C>T, NM_004543.3:c.5181C>T, NM_004543.4:c.5181C>T, XM_005246590.1:c.5181C>T, XM_005246591.1:c.5181C>T, XM_005246592.1:c.5181C>T, XM_005246593.1:c.5181C>T, XM_005246594.1:c.5181C>T, XM_005246595.1:c.5181C>T, XM_005246596.1:c.5181C>T, XM_005246597.1:c.5181C>T, XM_005246598.1:c.5181C>T, XM_005246599.1:c.5181C>T, XM_005246600.1:c.5181C>T, XM_005246601.1:c.5181C>T, XM_005246602.1:c.5181C>T, XM_005246603.1:c.5181C>T, XM_005246604.1:c.5181C>T, XM_005246605.1:c.5181C>T, XM_005246606.1:c.5181C>T, XM_005246607.1:c.5181C>T, XM_005246608.1:c.5181C>T, XM_005246609.1:c.5181C>T, XM_005246610.1:c.5181C>T, XM_005246611.1:c.5181C>T, XM_005246612.1:c.5181C>T, XM_005246613.1:c.5181C>T, XM_005246614.1:c.5181C>T, XM_005246615.1:c.5181C>T, XM_005246616.1:c.5181C>T, XM_005246617.1:c.5181C>TVOUS10/08/2019
107NEBEx43NM_004543.4:c.5300C>Tp.Pro1767Leu | p.P1767LLRG_202t1:c.5300C>T, NM_001164507.1:c.5300C>T, NM_001164508.1:c.5300C>T, NM_001271208.1:c.5300C>T, NM_004543.3:c.5300C>T, NM_004543.4:c.5300C>T, XM_005246590.1:c.5300C>T, XM_005246591.1:c.5300C>T, XM_005246592.1:c.5300C>T, XM_005246593.1:c.5300C>T, XM_005246594.1:c.5300C>T, XM_005246595.1:c.5300C>T, XM_005246596.1:c.5300C>T, XM_005246597.1:c.5300C>T, XM_005246598.1:c.5300C>T, XM_005246599.1:c.5300C>T, XM_005246600.1:c.5300C>T, XM_005246601.1:c.5300C>T, XM_005246602.1:c.5300C>T, XM_005246603.1:c.5300C>T, XM_005246604.1:c.5300C>T, XM_005246605.1:c.5300C>T, XM_005246606.1:c.5300C>T, XM_005246607.1:c.5300C>T, XM_005246608.1:c.5300C>T, XM_005246609.1:c.5300C>T, XM_005246610.1:c.5300C>T, XM_005246611.1:c.5300C>T, XM_005246612.1:c.5300C>T, XM_005246613.1:c.5300C>T, XM_005246614.1:c.5300C>T, XM_005246615.1:c.5300C>T, XM_005246616.1:c.5300C>T, XM_005246617.1:c.5300C>TVOUS09/29/2017
108NEBEx45NM_004543.4:c.5555T>Gp.Met1852Arg | p.M1852RNM_001164507.1:c.5555T>G, NM_001164508.1:c.5555T>G, NM_001271208.1:c.5555T>G, NM_004543.3:c.5555T>G, NM_004543.4:c.5555T>G, XM_005246590.1:c.5555T>G, XM_005246591.1:c.5555T>G, XM_005246592.1:c.5555T>G, XM_005246593.1:c.5555T>G, XM_005246594.1:c.5555T>G, XM_005246595.1:c.5555T>G, XM_005246596.1:c.5555T>G, XM_005246597.1:c.5555T>G, XM_005246598.1:c.5555T>G, XM_005246599.1:c.5555T>G, XM_005246600.1:c.5555T>G, XM_005246601.1:c.5555T>G, XM_005246602.1:c.5555T>G, XM_005246603.1:c.5555T>G, XM_005246604.1:c.5555T>G, XM_005246605.1:c.5555T>G, XM_005246606.1:c.5555T>G, XM_005246607.1:c.5555T>G, XM_005246608.1:c.5555T>G, XM_005246609.1:c.5555T>G, XM_005246610.1:c.5555T>G, XM_005246611.1:c.5555T>G, XM_005246612.1:c.5555T>G, XM_005246613.1:c.5555T>G, XM_005246614.1:c.5555T>G, XM_005246615.1:c.5555T>G, XM_005246616.1:c.5555T>G, XM_005246617.1:c.5555T>GLikely benign10/07/2016 
109NEBEx45NM_004543.4:c.5696C>Tp.Thr1899Ile | p.T1899INM_001164507.1:c.5696C>T, NM_001164508.1:c.5696C>T, NM_001271208.1:c.5696C>T, NM_004543.3:c.5696C>T, NM_004543.4:c.5696C>T, XM_005246590.1:c.5696C>T, XM_005246591.1:c.5696C>T, XM_005246592.1:c.5696C>T, XM_005246593.1:c.5696C>T, XM_005246594.1:c.5696C>T, XM_005246595.1:c.5696C>T, XM_005246596.1:c.5696C>T, XM_005246597.1:c.5696C>T, XM_005246598.1:c.5696C>T, XM_005246599.1:c.5696C>T, XM_005246600.1:c.5696C>T, XM_005246601.1:c.5696C>T, XM_005246602.1:c.5696C>T, XM_005246603.1:c.5696C>T, XM_005246604.1:c.5696C>T, XM_005246605.1:c.5696C>T, XM_005246606.1:c.5696C>T, XM_005246607.1:c.5696C>T, XM_005246608.1:c.5696C>T, XM_005246609.1:c.5696C>T, XM_005246610.1:c.5696C>T, XM_005246611.1:c.5696C>T, XM_005246612.1:c.5696C>T, XM_005246613.1:c.5696C>T, XM_005246614.1:c.5696C>T, XM_005246615.1:c.5696C>T, XM_005246616.1:c.5696C>T, XM_005246617.1:c.5696C>TVOUS01/26/2016
110NEBEx45NM_004543.4:c.5747T>Cp.Met1916Thr | p.M1916TLRG_202t1:c.5747T>C, NM_001164507.1:c.5747T>C, NM_001164508.1:c.5747T>C, NM_001271208.1:c.5747T>C, NM_004543.3:c.5747T>C, NM_004543.4:c.5747T>C, XM_005246590.1:c.5747T>C, XM_005246591.1:c.5747T>C, XM_005246592.1:c.5747T>C, XM_005246593.1:c.5747T>C, XM_005246594.1:c.5747T>C, XM_005246595.1:c.5747T>C, XM_005246596.1:c.5747T>C, XM_005246597.1:c.5747T>C, XM_005246598.1:c.5747T>C, XM_005246599.1:c.5747T>C, XM_005246600.1:c.5747T>C, XM_005246601.1:c.5747T>C, XM_005246602.1:c.5747T>C, XM_005246603.1:c.5747T>C, XM_005246604.1:c.5747T>C, XM_005246605.1:c.5747T>C, XM_005246606.1:c.5747T>C, XM_005246607.1:c.5747T>C, XM_005246608.1:c.5747T>C, XM_005246609.1:c.5747T>C, XM_005246610.1:c.5747T>C, XM_005246611.1:c.5747T>C, XM_005246612.1:c.5747T>C, XM_005246613.1:c.5747T>C, XM_005246614.1:c.5747T>C, XM_005246615.1:c.5747T>C, XM_005246616.1:c.5747T>C, XM_005246617.1:c.5747T>CVOUS11/14/2016
111NEBEx46NM_004543.4:c.5801G>Ap.Gly1934Asp | p.G1934DNM_001164507.1:c.5801G>A, NM_001164508.1:c.5801G>A, NM_001271208.1:c.5801G>A, NM_004543.3:c.5801G>A, NM_004543.4:c.5801G>A, XM_005246590.1:c.5801G>A, XM_005246591.1:c.5801G>A, XM_005246592.1:c.5801G>A, XM_005246593.1:c.5801G>A, XM_005246594.1:c.5801G>A, XM_005246595.1:c.5801G>A, XM_005246596.1:c.5801G>A, XM_005246597.1:c.5801G>A, XM_005246598.1:c.5801G>A, XM_005246599.1:c.5801G>A, XM_005246600.1:c.5801G>A, XM_005246601.1:c.5801G>A, XM_005246602.1:c.5801G>A, XM_005246603.1:c.5801G>A, XM_005246604.1:c.5801G>A, XM_005246605.1:c.5801G>A, XM_005246606.1:c.5801G>A, XM_005246607.1:c.5801G>A, XM_005246608.1:c.5801G>A, XM_005246609.1:c.5801G>A, XM_005246610.1:c.5801G>A, XM_005246611.1:c.5801G>A, XM_005246612.1:c.5801G>A, XM_005246613.1:c.5801G>A, XM_005246614.1:c.5801G>A, XM_005246615.1:c.5801G>A, XM_005246616.1:c.5801G>A, XM_005246617.1:c.5801G>AVOUS06/05/2015
112NEBEx47NM_004543.4:c.5971-6dupTLRG_202t1:c.5971-6_5971-5insT, NM_001164507.1:c.5971-6_5971-5insT, NM_001164508.1:c.5971-6_5971-5insT, NM_001271208.1:c.5971-6_5971-5insT, NM_004543.3:c.5971-6_5971-5insT, NM_004543.4:c.5971-6_5971-5insT, XM_005246590.1:c.5971-6_5971-5insT, XM_005246591.1:c.5971-6_5971-5insT, XM_005246592.1:c.5971-6_5971-5insT, XM_005246593.1:c.5971-6_5971-5insT, XM_005246594.1:c.5971-6_5971-5insT, XM_005246595.1:c.5971-6_5971-5insT, XM_005246596.1:c.5971-6_5971-5insT, XM_005246597.1:c.5971-6_5971-5insT, XM_005246598.1:c.5971-6_5971-5insT, XM_005246599.1:c.5971-6_5971-5insT, XM_005246600.1:c.5971-6_5971-5insT, XM_005246601.1:c.5971-6_5971-5insT, XM_005246602.1:c.5971-6_5971-5insT, XM_005246603.1:c.5971-6_5971-5insT, XM_005246604.1:c.5971-6_5971-5insT, XM_005246605.1:c.5971-6_5971-5insT, XM_005246606.1:c.5971-6_5971-5insT, XM_005246607.1:c.5971-6_5971-5insT, XM_005246608.1:c.5971-6_5971-5insT, XM_005246609.1:c.5971-6_5971-5insT, XM_005246610.1:c.5971-6_5971-5insT, XM_005246611.1:c.5971-6_5971-5insT, XVOUS03/16/2016
113NEBEx47NM_004543.4:c.6069G>Ap.Met2023Ile | p.M2023IBenign03/12/2013 
114NEBEx48NM_004543.4:c.6088C>Tp.Leu2030Phe | p.L2030FLRG_202t1:c.6088C>T, NM_001164507.1:c.6088C>T, NM_001164508.1:c.6088C>T, NM_001271208.1:c.6088C>T, NM_004543.3:c.6088C>T, NM_004543.4:c.6088C>T, XM_005246590.1:c.6088C>T, XM_005246591.1:c.6088C>T, XM_005246592.1:c.6088C>T, XM_005246593.1:c.6088C>T, XM_005246594.1:c.6088C>T, XM_005246595.1:c.6088C>T, XM_005246596.1:c.6088C>T, XM_005246597.1:c.6088C>T, XM_005246598.1:c.6088C>T, XM_005246599.1:c.6088C>T, XM_005246600.1:c.6088C>T, XM_005246601.1:c.6088C>T, XM_005246602.1:c.6088C>T, XM_005246603.1:c.6088C>T, XM_005246604.1:c.6088C>T, XM_005246605.1:c.6088C>T, XM_005246606.1:c.6088C>T, XM_005246607.1:c.6088C>T, XM_005246608.1:c.6088C>T, XM_005246609.1:c.6088C>T, XM_005246610.1:c.6088C>T, XM_005246611.1:c.6088C>T, XM_005246612.1:c.6088C>T, XM_005246613.1:c.6088C>T, XM_005246614.1:c.6088C>T, XM_005246615.1:c.6088C>T, XM_005246616.1:c.6088C>T, XM_005246617.1:c.6088C>TVOUS09/25/2018
115NEBEx48NM_004543.4:c.6135T>Cp.Asp2045= | p.D2045=NM_001164507.1:c.6135T>C, NM_001164508.1:c.6135T>C, NM_001271208.1:c.6135T>C, NM_004543.3:c.6135T>C, NM_004543.4:c.6135T>C, XM_005246590.1:c.6135T>C, XM_005246591.1:c.6135T>C, XM_005246592.1:c.6135T>C, XM_005246593.1:c.6135T>C, XM_005246594.1:c.6135T>C, XM_005246595.1:c.6135T>C, XM_005246596.1:c.6135T>C, XM_005246597.1:c.6135T>C, XM_005246598.1:c.6135T>C, XM_005246599.1:c.6135T>C, XM_005246600.1:c.6135T>C, XM_005246601.1:c.6135T>C, XM_005246602.1:c.6135T>C, XM_005246603.1:c.6135T>C, XM_005246604.1:c.6135T>C, XM_005246605.1:c.6135T>C, XM_005246606.1:c.6135T>C, XM_005246607.1:c.6135T>C, XM_005246608.1:c.6135T>C, XM_005246609.1:c.6135T>C, XM_005246610.1:c.6135T>C, XM_005246611.1:c.6135T>C, XM_005246612.1:c.6135T>C, XM_005246613.1:c.6135T>C, XM_005246614.1:c.6135T>C, XM_005246615.1:c.6135T>C, XM_005246616.1:c.6135T>C, XM_005246617.1:c.6135T>CVOUS10/07/2015
116NEBEx49NM_004543.4:c.6385C>Tp.Gln2129* | p.Q2129XNM_001164507.1:c.6385C>T, NM_001164508.1:c.6385C>T, NM_001271208.1:c.6385C>T, NM_004543.3:c.6385C>T, NM_004543.4:c.6385C>T, XM_005246590.1:c.6385C>T, XM_005246591.1:c.6385C>T, XM_005246592.1:c.6385C>T, XM_005246593.1:c.6385C>T, XM_005246594.1:c.6385C>T, XM_005246595.1:c.6385C>T, XM_005246596.1:c.6385C>T, XM_005246597.1:c.6385C>T, XM_005246598.1:c.6385C>T, XM_005246599.1:c.6385C>T, XM_005246600.1:c.6385C>T, XM_005246601.1:c.6385C>T, XM_005246602.1:c.6385C>T, XM_005246603.1:c.6385C>T, XM_005246604.1:c.6385C>T, XM_005246605.1:c.6385C>T, XM_005246606.1:c.6385C>T, XM_005246607.1:c.6385C>T, XM_005246608.1:c.6385C>T, XM_005246609.1:c.6385C>T, XM_005246610.1:c.6385C>T, XM_005246611.1:c.6385C>T, XM_005246612.1:c.6385C>T, XM_005246613.1:c.6385C>T, XM_005246614.1:c.6385C>T, XM_005246615.1:c.6385C>T, XM_005246616.1:c.6385C>T, XM_005246617.1:c.6385C>TPathogenic08/30/2015 
117NEBEx49NM_004543.4:c.6415C>Gp.His2139Asp | p.H2139DLRG_202t1:c.6415C>G, NM_001164507.1:c.6415C>G, NM_001164508.1:c.6415C>G, NM_001271208.1:c.6415C>G, NM_004543.3:c.6415C>G, NM_004543.4:c.6415C>G, XM_005246590.1:c.6415C>G, XM_005246591.1:c.6415C>G, XM_005246592.1:c.6415C>G, XM_005246593.1:c.6415C>G, XM_005246594.1:c.6415C>G, XM_005246595.1:c.6415C>G, XM_005246596.1:c.6415C>G, XM_005246597.1:c.6415C>G, XM_005246598.1:c.6415C>G, XM_005246599.1:c.6415C>G, XM_005246600.1:c.6415C>G, XM_005246601.1:c.6415C>G, XM_005246602.1:c.6415C>G, XM_005246603.1:c.6415C>G, XM_005246604.1:c.6415C>G, XM_005246605.1:c.6415C>G, XM_005246606.1:c.6415C>G, XM_005246607.1:c.6415C>G, XM_005246608.1:c.6415C>G, XM_005246609.1:c.6415C>G, XM_005246610.1:c.6415C>G, XM_005246611.1:c.6415C>G, XM_005246612.1:c.6415C>G, XM_005246613.1:c.6415C>G, XM_005246614.1:c.6415C>G, XM_005246615.1:c.6415C>G, XM_005246616.1:c.6415C>G, XM_005246617.1:c.6415C>GVOUS08/30/2016
118NEBEx49NM_004543.4:c.6486A>Gp.Ile2162Met | p.I2162MLRG_202t1:c.6486A>G, NM_001164507.1:c.6486A>G, NM_001164508.1:c.6486A>G, NM_001271208.1:c.6486A>G, NM_004543.3:c.6486A>G, NM_004543.4:c.6486A>G, XM_005246590.1:c.6486A>G, XM_005246591.1:c.6486A>G, XM_005246592.1:c.6486A>G, XM_005246593.1:c.6486A>G, XM_005246594.1:c.6486A>G, XM_005246595.1:c.6486A>G, XM_005246596.1:c.6486A>G, XM_005246597.1:c.6486A>G, XM_005246598.1:c.6486A>G, XM_005246599.1:c.6486A>G, XM_005246600.1:c.6486A>G, XM_005246601.1:c.6486A>G, XM_005246602.1:c.6486A>G, XM_005246603.1:c.6486A>G, XM_005246604.1:c.6486A>G, XM_005246605.1:c.6486A>G, XM_005246606.1:c.6486A>G, XM_005246607.1:c.6486A>G, XM_005246608.1:c.6486A>G, XM_005246609.1:c.6486A>G, XM_005246610.1:c.6486A>G, XM_005246611.1:c.6486A>G, XM_005246612.1:c.6486A>G, XM_005246613.1:c.6486A>G, XM_005246614.1:c.6486A>G, XM_005246615.1:c.6486A>G, XM_005246616.1:c.6486A>G, XM_005246617.1:c.6486A>GVOUS10/21/2016
119NEBEx50NM_004543.4:c.6505A>Gp.Lys2169Glu | p.K2169ELRG_202t1:c.6505A>G, NM_001164507.1:c.6505A>G, NM_001164508.1:c.6505A>G, NM_001271208.1:c.6505A>G, NM_004543.3:c.6505A>G, NM_004543.4:c.6505A>G, XM_005246590.1:c.6505A>G, XM_005246591.1:c.6505A>G, XM_005246592.1:c.6505A>G, XM_005246593.1:c.6505A>G, XM_005246594.1:c.6505A>G, XM_005246595.1:c.6505A>G, XM_005246596.1:c.6505A>G, XM_005246597.1:c.6505A>G, XM_005246598.1:c.6505A>G, XM_005246599.1:c.6505A>G, XM_005246600.1:c.6505A>G, XM_005246601.1:c.6505A>G, XM_005246602.1:c.6505A>G, XM_005246603.1:c.6505A>G, XM_005246604.1:c.6505A>G, XM_005246605.1:c.6505A>G, XM_005246606.1:c.6505A>G, XM_005246607.1:c.6505A>G, XM_005246608.1:c.6505A>G, XM_005246609.1:c.6505A>G, XM_005246610.1:c.6505A>G, XM_005246611.1:c.6505A>G, XM_005246612.1:c.6505A>G, XM_005246613.1:c.6505A>G, XM_005246614.1:c.6505A>G, XM_005246615.1:c.6505A>G, XM_005246616.1:c.6505A>G, XM_005246617.1:c.6505A>GVOUS05/25/2016
120NEBEx50NM_004543.4:c.6615C>Gp.Arg2205= | p.R2205=LRG_202t1:c.6615C>G, NM_001164507.1:c.6615C>G, NM_001164508.1:c.6615C>G, NM_001271208.1:c.6615C>G, NM_004543.3:c.6615C>G, NM_004543.4:c.6615C>G, XM_005246590.1:c.6615C>G, XM_005246591.1:c.6615C>G, XM_005246592.1:c.6615C>G, XM_005246593.1:c.6615C>G, XM_005246594.1:c.6615C>G, XM_005246595.1:c.6615C>G, XM_005246596.1:c.6615C>G, XM_005246597.1:c.6615C>G, XM_005246598.1:c.6615C>G, XM_005246599.1:c.6615C>G, XM_005246600.1:c.6615C>G, XM_005246601.1:c.6615C>G, XM_005246602.1:c.6615C>G, XM_005246603.1:c.6615C>G, XM_005246604.1:c.6615C>G, XM_005246605.1:c.6615C>G, XM_005246606.1:c.6615C>G, XM_005246607.1:c.6615C>G, XM_005246608.1:c.6615C>G, XM_005246609.1:c.6615C>G, XM_005246610.1:c.6615C>G, XM_005246611.1:c.6615C>G, XM_005246612.1:c.6615C>G, XM_005246613.1:c.6615C>G, XM_005246614.1:c.6615C>G, XM_005246615.1:c.6615C>G, XM_005246616.1:c.6615C>G, XM_005246617.1:c.6615C>GLikely benign11/10/2017 
121NEBEx51NM_004543.4:c.6704A>Cp.His2235Pro | p.H2235PNM_001164507.1:c.6704A>C, NM_001164508.1:c.6704A>C, NM_001271208.1:c.6704A>C, NM_004543.3:c.6704A>C, NM_004543.4:c.6704A>C, XM_005246590.1:c.6704A>C, XM_005246591.1:c.6704A>C, XM_005246592.1:c.6704A>C, XM_005246593.1:c.6704A>C, XM_005246594.1:c.6704A>C, XM_005246595.1:c.6704A>C, XM_005246596.1:c.6704A>C, XM_005246597.1:c.6704A>C, XM_005246598.1:c.6704A>C, XM_005246599.1:c.6704A>C, XM_005246600.1:c.6704A>C, XM_005246601.1:c.6704A>C, XM_005246602.1:c.6704A>C, XM_005246603.1:c.6704A>C, XM_005246604.1:c.6704A>C, XM_005246605.1:c.6704A>C, XM_005246606.1:c.6704A>C, XM_005246607.1:c.6704A>C, XM_005246608.1:c.6704A>C, XM_005246609.1:c.6704A>C, XM_005246610.1:c.6704A>C, XM_005246611.1:c.6704A>C, XM_005246612.1:c.6704A>C, XM_005246613.1:c.6704A>C, XM_005246614.1:c.6704A>C, XM_005246615.1:c.6704A>C, XM_005246616.1:c.6704A>C, XM_005246617.1:c.6704A>CVOUS06/11/2015
122NEBEx51NM_004543.4:c.6807+6T>GNM_001164507.1:c.6807+6T>G, NM_001164508.1:c.6807+6T>G, NM_001271208.1:c.6807+6T>G, NM_004543.3:c.6807+6T>G, NM_004543.4:c.6807+6T>GBenign11/27/2013 
123NEBEx53NM_004543.4:c.7126G>Cp.Val2376Leu | p.V2376LNM_001164507.1:c.7126G>C, NM_001164508.1:c.7126G>C, NM_001271208.1:c.7126G>C, NM_004543.3:c.7126G>C, NM_004543.4:c.7126G>C, XM_005246590.1:c.7126G>C, XM_005246591.1:c.7126G>C, XM_005246592.1:c.7126G>C, XM_005246593.1:c.7126G>C, XM_005246594.1:c.7126G>C, XM_005246595.1:c.7126G>C, XM_005246596.1:c.7126G>C, XM_005246597.1:c.7126G>C, XM_005246598.1:c.7126G>C, XM_005246599.1:c.7126G>C, XM_005246600.1:c.7126G>C, XM_005246601.1:c.7126G>C, XM_005246602.1:c.7126G>C, XM_005246603.1:c.7126G>C, XM_005246604.1:c.7126G>C, XM_005246605.1:c.7126G>C, XM_005246606.1:c.7126G>C, XM_005246607.1:c.7126G>C, XM_005246608.1:c.7126G>C, XM_005246609.1:c.7126G>C, XM_005246610.1:c.7126G>C, XM_005246611.1:c.7126G>C, XM_005246612.1:c.7126G>C, XM_005246613.1:c.7126G>C, XM_005246614.1:c.7126G>C, XM_005246615.1:c.7126G>C, XM_005246616.1:c.7126G>C, XM_005246617.1:c.7126G>CVOUS06/16/2015
124NEBEx54NM_004543.4:c.7310G>Ap.Arg2437Gln | p.R2437QNM_001164507.1:c.7310G>A, NM_001164508.1:c.7310G>A, NM_001271208.1:c.7310G>A, NM_004543.3:c.7310G>A, NM_004543.4:c.7310G>ABenign07/30/2013 
125NEBEx54NM_004543.4:c.7335G>Cp.Lys2445Asn | p.K2445NNM_001164507.1:c.7335G>C, NM_001164508.1:c.7335G>C, NM_001271208.1:c.7335G>C, NM_004543.3:c.7335G>C, NM_004543.4:c.7335G>C, XM_005246590.1:c.7335G>C, XM_005246591.1:c.7335G>C, XM_005246592.1:c.7335G>C, XM_005246593.1:c.7335G>C, XM_005246594.1:c.7335G>C, XM_005246595.1:c.7335G>C, XM_005246596.1:c.7335G>C, XM_005246597.1:c.7335G>C, XM_005246598.1:c.7335G>C, XM_005246599.1:c.7335G>C, XM_005246600.1:c.7335G>C, XM_005246601.1:c.7335G>C, XM_005246602.1:c.7335G>C, XM_005246603.1:c.7335G>C, XM_005246604.1:c.7335G>C, XM_005246605.1:c.7335G>C, XM_005246606.1:c.7335G>C, XM_005246607.1:c.7335G>C, XM_005246608.1:c.7335G>C, XM_005246609.1:c.7335G>C, XM_005246610.1:c.7335G>C, XM_005246611.1:c.7335G>C, XM_005246612.1:c.7335G>C, XM_005246613.1:c.7335G>C, XM_005246614.1:c.7335G>C, XM_005246615.1:c.7335G>C, XM_005246616.1:c.7335G>C, XM_005246617.1:c.7335G>CVOUS01/29/2016
126NEBEx54NM_004543.4:c.7421A>Gp.Asn2474Ser | p.N2474SLRG_202t1:c.7421A>G, NM_001164507.1:c.7421A>G, NM_001164508.1:c.7421A>G, NM_001271208.1:c.7421A>G, NM_004543.3:c.7421A>G, NM_004543.4:c.7421A>G, XM_005246590.1:c.7421A>G, XM_005246591.1:c.7421A>G, XM_005246592.1:c.7421A>G, XM_005246593.1:c.7421A>G, XM_005246594.1:c.7421A>G, XM_005246595.1:c.7421A>G, XM_005246596.1:c.7421A>G, XM_005246597.1:c.7421A>G, XM_005246598.1:c.7421A>G, XM_005246599.1:c.7421A>G, XM_005246600.1:c.7421A>G, XM_005246601.1:c.7421A>G, XM_005246602.1:c.7421A>G, XM_005246603.1:c.7421A>G, XM_005246604.1:c.7421A>G, XM_005246605.1:c.7421A>G, XM_005246606.1:c.7421A>G, XM_005246607.1:c.7421A>G, XM_005246608.1:c.7421A>G, XM_005246609.1:c.7421A>G, XM_005246610.1:c.7421A>G, XM_005246611.1:c.7421A>G, XM_005246612.1:c.7421A>G, XM_005246613.1:c.7421A>G, XM_005246614.1:c.7421A>G, XM_005246615.1:c.7421A>G, XM_005246616.1:c.7421A>G, XM_005246617.1:c.7421A>GVOUS08/09/2016
127NEBEx55NM_004543.4:c.7431+1919_7536+374deldel 2.5kb Ex55Pathogenic10/14/2014 
128NEBEx55NM_004543.4:c.7514C>Ap.Ala2505Glu | p.A2505ENM_001164507.1:c.7514C>A, NM_001164508.1:c.7514C>A, NM_001271208.1:c.7514C>A, NM_004543.3:c.7514C>A, NM_004543.4:c.7514C>ABenign03/11/2013 
129NEBEx56NM_004543.4:c.7582G>Ap.Asp2528Asn | p.D2528NLRG_202t1:c.7582G>A, NM_001164507.1:c.7582G>A, NM_001164508.1:c.7582G>A, NM_001271208.1:c.7582G>A, NM_004543.3:c.7582G>A, NM_004543.4:c.7582G>A, XM_005246590.1:c.7582G>A, XM_005246591.1:c.7582G>A, XM_005246592.1:c.7582G>A, XM_005246593.1:c.7582G>A, XM_005246594.1:c.7582G>A, XM_005246595.1:c.7582G>A, XM_005246596.1:c.7582G>A, XM_005246597.1:c.7582G>A, XM_005246598.1:c.7582G>A, XM_005246599.1:c.7582G>A, XM_005246600.1:c.7582G>A, XM_005246601.1:c.7582G>A, XM_005246602.1:c.7582G>A, XM_005246603.1:c.7582G>A, XM_005246604.1:c.7582G>A, XM_005246605.1:c.7582G>A, XM_005246606.1:c.7582G>A, XM_005246607.1:c.7582G>A, XM_005246608.1:c.7582G>A, XM_005246609.1:c.7582G>A, XM_005246610.1:c.7582G>A, XM_005246611.1:c.7582G>A, XM_005246612.1:c.7582G>A, XM_005246613.1:c.7582G>A, XM_005246614.1:c.7582G>A, XM_005246615.1:c.7582G>A, XM_005246616.1:c.7582G>A, XM_005246617.1:c.7582G>A, XM_005246618.1:c.-476G>AVOUS01/26/2017
130NEBEx57NM_004543.4:c.7748T>Cp.Ile2583Thr | p.I2583TNM_001164507.1:c.7748T>C, NM_001164508.1:c.7748T>C, NM_001271208.1:c.7748T>C, NM_004543.3:c.7748T>C, NM_004543.4:c.7748T>C, XM_005246590.1:c.7748T>C, XM_005246591.1:c.7748T>C, XM_005246592.1:c.7748T>C, XM_005246593.1:c.7748T>C, XM_005246594.1:c.7748T>C, XM_005246595.1:c.7748T>C, XM_005246596.1:c.7748T>C, XM_005246597.1:c.7748T>C, XM_005246598.1:c.7748T>C, XM_005246599.1:c.7748T>C, XM_005246600.1:c.7748T>C, XM_005246601.1:c.7748T>C, XM_005246602.1:c.7748T>C, XM_005246603.1:c.7748T>C, XM_005246604.1:c.7748T>C, XM_005246605.1:c.7748T>C, XM_005246606.1:c.7748T>C, XM_005246607.1:c.7748T>C, XM_005246608.1:c.7748T>C, XM_005246609.1:c.7748T>C, XM_005246610.1:c.7748T>C, XM_005246611.1:c.7748T>C, XM_005246612.1:c.7748T>C, XM_005246613.1:c.7746+2T>C, XM_005246614.1:c.7748T>C, XM_005246615.1:c.7748T>C, XM_005246616.1:c.7748T>C, XM_005246617.1:c.7748T>C, XM_005246618.1:c.-19+47T>CVOUS10/26/2015
131NEBEx57NM_004543.4:c.7839G>Cp.Lys2613Asn | p.K2613NNM_001164507.1:c.7839G>C, NM_001164508.1:c.7839G>C, NM_001271208.1:c.7839G>C, NM_004543.3:c.7839G>C, NM_004543.4:c.7839G>CBenign08/23/2013 
132NEBEx57NM_004543.4:c.7861G>Ap.Asp2621Asn | p.D2621NNM_001164507.1:c.7861G>A, NM_001164508.1:c.7861G>A, NM_001271208.1:c.7861G>A, NM_004543.3:c.7861G>A, NM_004543.4:c.7861G>A, XM_005246590.1:c.7861G>A, XM_005246591.1:c.7861G>A, XM_005246592.1:c.7861G>A, XM_005246593.1:c.7861G>A, XM_005246594.1:c.7861G>A, XM_005246595.1:c.7861G>A, XM_005246596.1:c.7861G>A, XM_005246597.1:c.7861G>A, XM_005246598.1:c.7861G>A, XM_005246599.1:c.7861G>A, XM_005246600.1:c.7861G>A, XM_005246601.1:c.7861G>A, XM_005246602.1:c.7861G>A, XM_005246603.1:c.7861G>A, XM_005246604.1:c.7861G>A, XM_005246605.1:c.7861G>A, XM_005246606.1:c.7861G>A, XM_005246607.1:c.7861G>A, XM_005246608.1:c.7861G>A, XM_005246609.1:c.7861G>A, XM_005246610.1:c.7861G>A, XM_005246611.1:c.7861G>A, XM_005246612.1:c.7861G>A, XM_005246613.1:c.7746+115G>A, XM_005246614.1:c.7861G>A, XM_005246615.1:c.7861G>A, XM_005246616.1:c.7861G>A, XM_005246617.1:c.7861G>A, XM_005246618.1:c.-19+160G>AVOUS07/11/2014
133NEBEx57NM_004543.4:c.7917T>Cp.Asp2639= | p.D2639=NM_001164507.1:c.7917T>C, NM_001164508.1:c.7917T>C, NM_001271208.1:c.7917T>C, NM_004543.3:c.7917T>C, NM_004543.4:c.7917T>C, XM_005246590.1:c.7917T>C, XM_005246591.1:c.7917T>C, XM_005246592.1:c.7917T>C, XM_005246593.1:c.7917T>C, XM_005246594.1:c.7917T>C, XM_005246595.1:c.7917T>C, XM_005246596.1:c.7917T>C, XM_005246597.1:c.7917T>C, XM_005246598.1:c.7917T>C, XM_005246599.1:c.7917T>C, XM_005246600.1:c.7917T>C, XM_005246601.1:c.7917T>C, XM_005246602.1:c.7917T>C, XM_005246603.1:c.7917T>C, XM_005246604.1:c.7917T>C, XM_005246605.1:c.7917T>C, XM_005246606.1:c.7917T>C, XM_005246607.1:c.7917T>C, XM_005246608.1:c.7917T>C, XM_005246609.1:c.7917T>C, XM_005246610.1:c.7917T>C, XM_005246611.1:c.7917T>C, XM_005246612.1:c.7917T>C, XM_005246613.1:c.7746+171T>C, XM_005246614.1:c.7917T>C, XM_005246615.1:c.7917T>C, XM_005246616.1:c.7917T>C, XM_005246617.1:c.7917T>C, XM_005246618.1:c.-19+216T>CVOUS05/19/2015
134NEBEx58NM_004543.4:c.8031_8041delAAATAAACGAGp.Lys2677Asnfs*7 | p.K2677NfsX7NM_004543.4:c.8031_8041delAAATAAACGAG, XM_005246590.1:c.8031_8041delAAATAAACGAG, XM_005246591.1:c.8031_8041delAAATAAACGAG, XM_005246592.1:c.8031_8041delAAATAAACGAG, XM_005246593.1:c.8031_8041delAAATAAACGAG, XM_005246594.1:c.8031_8041delAAATAAACGAG, XM_005246595.1:c.8031_8041delAAATAAACGAG, XM_005246596.1:c.8031_8041delAAATAAACGAG, XM_005246597.1:c.8031_8041delAAATAAACGAG, XM_005246598.1:c.8031_8041delAAATAAACGAG, XM_005246599.1:c.8031_8041delAAATAAACGAG, XM_005246600.1:c.8031_8041delAAATAAACGAG, XM_005246601.1:c.8031_8041delAAATAAACGAG, XM_005246602.1:c.8031_8041delAAATAAACGAG, XM_005246603.1:c.8031_8041delAAATAAACGAG, XM_005246604.1:c.8031_8041delAAATAAACGAG, XM_005246605.1:c.8031_8041delAAATAAACGAG, XM_005246606.1:c.8031_8041delAAATAAACGAG, XM_005246607.1:c.8031_8041delAAATAAACGAG, XM_005246608.1:c.8031_8041delAAATAAACGAG, XM_005246609.1:c.8031_8041delAAATAAACGAG, XM_005246610.1:c.8031_8041delAAATAAACGAG, XM_005246611.1:c.8031_8041delAAATAAACGAG, XM_005246612.1:c.7956+539_7956+549dPathogenic09/25/2013 
135NEBEx58NM_004543.4:c.8072G>Ap.Arg2691His | p.R2691HNM_001164507.1:c.8072G>A, NM_001164508.1:c.8072G>A, NM_001271208.1:c.8072G>A, NM_004543.3:c.8072G>A, NM_004543.4:c.8072G>A, XM_005246590.1:c.8072G>A, XM_005246591.1:c.8072G>A, XM_005246592.1:c.8072G>A, XM_005246593.1:c.8072G>A, XM_005246594.1:c.8072G>A, XM_005246595.1:c.8072G>A, XM_005246596.1:c.8072G>A, XM_005246597.1:c.8072G>A, XM_005246598.1:c.8072G>A, XM_005246599.1:c.8072G>A, XM_005246600.1:c.8072G>A, XM_005246601.1:c.8072G>A, XM_005246602.1:c.8072G>A, XM_005246603.1:c.8072G>A, XM_005246604.1:c.8072G>A, XM_005246605.1:c.8072G>A, XM_005246606.1:c.8072G>A, XM_005246607.1:c.8072G>A, XM_005246608.1:c.8072G>A, XM_005246609.1:c.8072G>A, XM_005246610.1:c.8072G>A, XM_005246611.1:c.8072G>A, XM_005246612.1:c.7956+580G>A, XM_005246613.1:c.7746+790G>A, XM_005246614.1:c.8072G>A, XM_005246615.1:c.8072G>A, XM_005246617.1:c.8072G>A, XM_005246618.1:c.-19+835G>ALikely benign06/22/2017 
136NEBEx59NM_004543.4:c.8189A>Gp.Asp2730Gly | p.D2730GNM_001164507.1:c.8189A>G, NM_001164508.1:c.8189A>G, NM_001271208.1:c.8189A>G, NM_004543.3:c.8189A>G, NM_004543.4:c.8189A>G, XM_005246590.1:c.8189A>G, XM_005246591.1:c.8189A>G, XM_005246592.1:c.8189A>G, XM_005246593.1:c.8189A>G, XM_005246594.1:c.8189A>G, XM_005246595.1:c.8189A>G, XM_005246596.1:c.8189A>G, XM_005246597.1:c.8189A>G, XM_005246598.1:c.8189A>G, XM_005246599.1:c.8189A>G, XM_005246600.1:c.8189A>G, XM_005246601.1:c.8189A>G, XM_005246602.1:c.8189A>G, XM_005246603.1:c.8189A>G, XM_005246604.1:c.8189A>G, XM_005246605.1:c.8189A>G, XM_005246606.1:c.8189A>G, XM_005246607.1:c.8189A>G, XM_005246608.1:c.8189A>G, XM_005246609.1:c.8189A>G, XM_005246610.1:c.8189A>G, XM_005246611.1:c.8189A>G, XM_005246612.1:c.7956+977A>G, XM_005246613.1:c.7746+1187A>G, XM_005246614.1:c.8189A>G, XM_005246615.1:c.8189A>G, XM_005246616.1:c.8189A>G, XM_005246617.1:c.8189A>G, XM_005246618.1:c.-19+1232A>GBenign02/13/2015 
137NEBEx59NM_004543.4:c.8202C>Tp.Val2734= | p.V2734=NM_001164507.1:c.8202C>T, NM_001164508.1:c.8202C>T, NM_001271208.1:c.8202C>T, NM_004543.3:c.8202C>T, NM_004543.4:c.8202C>T, XM_005246590.1:c.8202C>T, XM_005246591.1:c.8202C>T, XM_005246592.1:c.8202C>T, XM_005246593.1:c.8202C>T, XM_005246594.1:c.8202C>T, XM_005246595.1:c.8202C>T, XM_005246596.1:c.8202C>T, XM_005246597.1:c.8202C>T, XM_005246598.1:c.8202C>T, XM_005246599.1:c.8202C>T, XM_005246600.1:c.8202C>T, XM_005246601.1:c.8202C>T, XM_005246602.1:c.8202C>T, XM_005246603.1:c.8202C>T, XM_005246604.1:c.8202C>T, XM_005246605.1:c.8202C>T, XM_005246606.1:c.8202C>T, XM_005246607.1:c.8202C>T, XM_005246608.1:c.8202C>T, XM_005246609.1:c.8202C>T, XM_005246610.1:c.8202C>T, XM_005246611.1:c.8202C>T, XM_005246612.1:c.7956+990C>T, XM_005246613.1:c.7746+1200C>T, XM_005246614.1:c.8202C>T, XM_005246615.1:c.8202C>T, XM_005246616.1:c.8202C>T, XM_005246617.1:c.8202C>T, XM_005246618.1:c.-19+1245C>TVOUS06/10/2015
138NEBEx60NM_004543.4:c.8328C>Tp.Ala2776= | p.A2776=NM_001164507.1:c.8328C>T, NM_001164508.1:c.8328C>T, NM_001271208.1:c.8328C>T, NM_004543.3:c.8328C>T, NM_004543.4:c.8328C>T, XM_005246590.1:c.8328C>T, XM_005246591.1:c.8328C>T, XM_005246592.1:c.8328C>T, XM_005246593.1:c.8328C>T, XM_005246594.1:c.8328C>T, XM_005246595.1:c.8328C>T, XM_005246596.1:c.8328C>T, XM_005246597.1:c.8328C>T, XM_005246598.1:c.8328C>T, XM_005246599.1:c.8328C>T, XM_005246600.1:c.8328C>T, XM_005246601.1:c.8328C>T, XM_005246602.1:c.8328C>T, XM_005246603.1:c.8328C>T, XM_005246604.1:c.8328C>T, XM_005246605.1:c.8328C>T, XM_005246606.1:c.8328C>T, XM_005246607.1:c.8328C>T, XM_005246608.1:c.8328C>T, XM_005246609.1:c.8328C>T, XM_005246610.1:c.8328C>T, XM_005246611.1:c.8328C>T, XM_005246612.1:c.7956+1199C>T, XM_005246613.1:c.7746+1409C>T, XM_005246614.1:c.8328C>T, XM_005246615.1:c.8328C>T, XM_005246616.1:c.8328C>T, XM_005246617.1:c.8328C>T, XM_005246618.1:c.-19+1454C>TVOUS02/19/2016
139NEBEx60NM_004543.4:c.8353T>Cp.Ser2785Pro | p.S2785PNM_001164507.1:c.8353T>C, NM_001164508.1:c.8353T>C, NM_001271208.1:c.8353T>C, NM_004543.3:c.8353T>C, NM_004543.4:c.8353T>CVOUS09/25/2013
140NEBEx61NM_004543.4:c.8553G>Ap.Gly2851= | p.G2851=NM_001164507.1:c.8553G>A, NM_001164508.1:c.8553G>A, NM_001271208.1:c.8553G>A, NM_004543.3:c.8553G>A, NM_004543.4:c.8553G>A, XM_005246590.1:c.8553G>A, XM_005246591.1:c.8553G>A, XM_005246592.1:c.8553G>A, XM_005246593.1:c.8553G>A, XM_005246594.1:c.8553G>A, XM_005246595.1:c.8553G>A, XM_005246596.1:c.8553G>A, XM_005246597.1:c.8553G>A, XM_005246598.1:c.8553G>A, XM_005246599.1:c.8553G>A, XM_005246600.1:c.8553G>A, XM_005246601.1:c.8553G>A, XM_005246602.1:c.8553G>A, XM_005246603.1:c.8553G>A, XM_005246604.1:c.8553G>A, XM_005246605.1:c.8553G>A, XM_005246606.1:c.8553G>A, XM_005246607.1:c.8553G>A, XM_005246608.1:c.8553G>A, XM_005246609.1:c.8553G>A, XM_005246610.1:c.8553G>A, XM_005246611.1:c.8553G>A, XM_005246612.1:c.7957-427G>A, XM_005246613.1:c.7824G>A, XM_005246614.1:c.8553G>A, XM_005246615.1:c.8553G>A, XM_005246616.1:c.8553G>A, XM_005246617.1:c.8553G>A, XM_005246618.1:c.-19+3586G>AVOUS06/10/2015
141NEBEx61NM_004543.4:c.8592T>Cp.Asp2864= | p.D2864=LRG_202t1:c.8592T>C, NM_001164507.1:c.8592T>C, NM_001164508.1:c.8592T>C, NM_001271208.1:c.8592T>C, NM_004543.3:c.8592T>C, NM_004543.4:c.8592T>C, XM_005246590.1:c.8592T>C, XM_005246591.1:c.8592T>C, XM_005246592.1:c.8592T>C, XM_005246593.1:c.8592T>C, XM_005246594.1:c.8592T>C, XM_005246595.1:c.8592T>C, XM_005246596.1:c.8592T>C, XM_005246597.1:c.8592T>C, XM_005246598.1:c.8592T>C, XM_005246599.1:c.8592T>C, XM_005246600.1:c.8592T>C, XM_005246601.1:c.8592T>C, XM_005246602.1:c.8592T>C, XM_005246603.1:c.8592T>C, XM_005246604.1:c.8592T>C, XM_005246605.1:c.8592T>C, XM_005246606.1:c.8592T>C, XM_005246607.1:c.8592T>C, XM_005246608.1:c.8592T>C, XM_005246609.1:c.8592T>C, XM_005246610.1:c.8592T>C, XM_005246611.1:c.8592T>C, XM_005246612.1:c.7957-388T>C, XM_005246613.1:c.7863T>C, XM_005246614.1:c.8592T>C, XM_005246615.1:c.8592T>C, XM_005246616.1:c.8592T>C, XM_005246617.1:c.8592T>C, XM_005246618.1:c.-19+3625T>CBenign08/23/2016 
142NEBEx61NM_004543.4:c.8644G>Ap.Asp2882Asn | p.D2882NNM_001164507.1:c.8644G>A, NM_001164508.1:c.8644G>A, NM_001271208.1:c.8644G>A, NM_004543.3:c.8644G>A, NM_004543.4:c.8644G>A, XM_005246590.1:c.8644G>A, XM_005246591.1:c.8644G>A, XM_005246592.1:c.8644G>A, XM_005246593.1:c.8644G>A, XM_005246594.1:c.8644G>A, XM_005246595.1:c.8644G>A, XM_005246596.1:c.8644G>A, XM_005246597.1:c.8644G>A, XM_005246598.1:c.8644G>A, XM_005246599.1:c.8644G>A, XM_005246600.1:c.8644G>A, XM_005246601.1:c.8644G>A, XM_005246602.1:c.8644G>A, XM_005246603.1:c.8644G>A, XM_005246604.1:c.8644G>A, XM_005246605.1:c.8644G>A, XM_005246606.1:c.8644G>A, XM_005246607.1:c.8644G>A, XM_005246608.1:c.8644G>A, XM_005246609.1:c.8644G>A, XM_005246610.1:c.8644G>A, XM_005246611.1:c.8644G>A, XM_005246612.1:c.7957-336G>A, XM_005246613.1:c.7915G>A, XM_005246614.1:c.8644G>A, XM_005246615.1:c.8644G>A, XM_005246617.1:c.8644G>A, XM_005246618.1:c.-19+3677G>AVOUS02/05/2015
143NEBEx62NM_004543.4:c.8719G>Ap.Gly2907Ser | p.G2907SNM_001164507.1:c.8719G>A, NM_001164508.1:c.8719G>A, NM_001271208.1:c.8719G>A, NM_004543.3:c.8719G>A, NM_004543.4:c.8719G>A, XM_005246590.1:c.8719G>A, XM_005246591.1:c.8719G>A, XM_005246592.1:c.8719G>A, XM_005246593.1:c.8719G>A, XM_005246594.1:c.8719G>A, XM_005246595.1:c.8719G>A, XM_005246596.1:c.8719G>A, XM_005246597.1:c.8719G>A, XM_005246598.1:c.8719G>A, XM_005246599.1:c.8719G>A, XM_005246600.1:c.8719G>A, XM_005246601.1:c.8719G>A, XM_005246602.1:c.8719G>A, XM_005246603.1:c.8719G>A, XM_005246604.1:c.8719G>A, XM_005246605.1:c.8719G>A, XM_005246606.1:c.8719G>A, XM_005246607.1:c.8719G>A, XM_005246608.1:c.8719G>A, XM_005246609.1:c.8719G>A, XM_005246610.1:c.8719G>A, XM_005246611.1:c.8719G>A, XM_005246612.1:c.7990G>A, XM_005246613.1:c.7990G>A, XM_005246614.1:c.8719G>A, XM_005246615.1:c.8719G>A, XM_005246616.1:c.8719G>A, XM_005246617.1:c.8719G>A, XM_005246618.1:c.-19+4046G>AVOUS09/12/2014
144NEBEx62NM_004543.4:c.8799T>Cp.Tyr2933= | p.Y2933=LRG_202t1:c.8799T>C, NM_001164507.1:c.8799T>C, NM_001164508.1:c.8799T>C, NM_001271208.1:c.8799T>C, NM_004543.3:c.8799T>C, NM_004543.4:c.8799T>C, XM_005246590.1:c.8799T>C, XM_005246591.1:c.8799T>C, XM_005246592.1:c.8799T>C, XM_005246593.1:c.8799T>C, XM_005246594.1:c.8799T>C, XM_005246595.1:c.8799T>C, XM_005246596.1:c.8799T>C, XM_005246597.1:c.8799T>C, XM_005246598.1:c.8799T>C, XM_005246599.1:c.8799T>C, XM_005246600.1:c.8799T>C, XM_005246601.1:c.8799T>C, XM_005246602.1:c.8799T>C, XM_005246603.1:c.8799T>C, XM_005246604.1:c.8799T>C, XM_005246605.1:c.8799T>C, XM_005246606.1:c.8799T>C, XM_005246607.1:c.8799T>C, XM_005246608.1:c.8799T>C, XM_005246609.1:c.8799T>C, XM_005246610.1:c.8799T>C, XM_005246611.1:c.8799T>C, XM_005246612.1:c.8070T>C, XM_005246613.1:c.8070T>C, XM_005246614.1:c.8799T>C, XM_005246615.1:c.8799T>C, XM_005246616.1:c.8799T>C, XM_005246617.1:c.8799T>C, XM_005246618.1:c.-19+4126T>CVOUS10/21/2016
145NEBEx63NM_004543.4:c.8854-7A>GLRG_202t1:c.9576A>G, NM_001164507.1:c.9576A>G, NM_001164508.1:c.9576A>G, NM_001271208.1:c.9576A>G, NM_004543.3:c.8854-7A>G, NM_004543.4:c.8854-7A>G, XM_005246590.1:c.9576A>G, XM_005246591.1:c.9576A>G, XM_005246592.1:c.9576A>G, XM_005246593.1:c.9576A>G, XM_005246594.1:c.9576A>G, XM_005246595.1:c.9576A>G, XM_005246596.1:c.9576A>G, XM_005246597.1:c.9576A>G, XM_005246598.1:c.9576A>G, XM_005246599.1:c.9576A>G, XM_005246600.1:c.9576A>G, XM_005246601.1:c.9576A>G, XM_005246602.1:c.9576A>G, XM_005246603.1:c.9576A>G, XM_005246604.1:c.9576A>G, XM_005246605.1:c.9576A>G, XM_005246606.1:c.9576A>G, XM_005246607.1:c.9576A>G, XM_005246608.1:c.9576A>G, XM_005246609.1:c.9576A>G, XM_005246610.1:c.9576A>G, XM_005246611.1:c.9576A>G, XM_005246612.1:c.8847A>G, XM_005246613.1:c.8847A>G, XM_005246614.1:c.9576A>G, XM_005246615.1:c.9576A>G, XM_005246616.1:c.9576A>G, XM_005246617.1:c.9576A>G, XM_005246618.1:c.-18-3408A>GVOUS05/15/2018
146NEBEx64NM_004543.4:c.8891G>Ap.Arg2964His | p.R2964HLRG_202t1:c.9620G>A, NM_001164507.1:c.9620G>A, NM_001164508.1:c.9620G>A, NM_001271208.1:c.9620G>A, NM_004543.3:c.8891G>A, NM_004543.4:c.8891G>A, XM_005246590.1:c.9620G>A, XM_005246591.1:c.9620G>A, XM_005246592.1:c.9620G>A, XM_005246593.1:c.9620G>A, XM_005246594.1:c.9620G>A, XM_005246595.1:c.9620G>A, XM_005246596.1:c.9620G>A, XM_005246597.1:c.9620G>A, XM_005246598.1:c.9620G>A, XM_005246599.1:c.9620G>A, XM_005246600.1:c.9620G>A, XM_005246601.1:c.9620G>A, XM_005246602.1:c.9620G>A, XM_005246603.1:c.9620G>A, XM_005246604.1:c.9620G>A, XM_005246605.1:c.9620G>A, XM_005246606.1:c.9620G>A, XM_005246607.1:c.9620G>A, XM_005246608.1:c.9620G>A, XM_005246609.1:c.9620G>A, XM_005246610.1:c.9620G>A, XM_005246611.1:c.9620G>A, XM_005246612.1:c.8891G>A, XM_005246613.1:c.8891G>A, XM_005246614.1:c.9620G>A, XM_005246615.1:c.9620G>A, XM_005246616.1:c.9620G>A, XM_005246617.1:c.9620G>A, XM_005246618.1:c.-18-3041G>AVOUS01/23/2017
147NEBEx65NM_004543.4:c.9091G>Ap.Val3031Ile | p.V3031ILRG_202t1:c.9820G>A, NM_001164507.1:c.9820G>A, NM_001164508.1:c.9820G>A, NM_001271208.1:c.9820G>A, NM_004543.3:c.9091G>A, NM_004543.4:c.9091G>A, XM_005246590.1:c.9820G>A, XM_005246591.1:c.9820G>A, XM_005246592.1:c.9820G>A, XM_005246593.1:c.9820G>A, XM_005246594.1:c.9820G>A, XM_005246595.1:c.9820G>A, XM_005246596.1:c.9820G>A, XM_005246597.1:c.9820G>A, XM_005246598.1:c.9820G>A, XM_005246599.1:c.9820G>A, XM_005246600.1:c.9820G>A, XM_005246601.1:c.9820G>A, XM_005246602.1:c.9820G>A, XM_005246603.1:c.9820G>A, XM_005246604.1:c.9820G>A, XM_005246605.1:c.9820G>A, XM_005246606.1:c.9820G>A, XM_005246607.1:c.9820G>A, XM_005246608.1:c.9820G>A, XM_005246609.1:c.9820G>A, XM_005246610.1:c.9820G>A, XM_005246611.1:c.9820G>A, XM_005246612.1:c.9091G>A, XM_005246613.1:c.9091G>A, XM_005246614.1:c.9820G>A, XM_005246615.1:c.9820G>A, XM_005246616.1:c.9820G>A, XM_005246617.1:c.9820G>A, XM_005246618.1:c.-18-1773G>AVOUS10/21/2016
148NEBEx65NM_004543.4:c.9102+4A>GVOUS02/10/2014
149NEBEx66NM_004543.4:c.9136G>Ap.Gly3046Ser | p.G3046SNM_001164507.1:c.9865G>A, NM_001164508.1:c.9865G>A, NM_001271208.1:c.9865G>A, NM_004543.3:c.9136G>A, NM_004543.4:c.9136G>ABenign02/09/2015 
150NEBEx66NM_004543.4:c.9363C>Tp.Pro3121= | p.P3121=NM_001164507.1:c.10092C>T, NM_001164508.1:c.10092C>T, NM_001271208.1:c.10092C>T, NM_004543.3:c.9363C>T, NM_004543.4:c.9363C>T, XM_005246590.1:c.10092C>T, XM_005246591.1:c.10092C>T, XM_005246592.1:c.10092C>T, XM_005246593.1:c.10092C>T, XM_005246594.1:c.10092C>T, XM_005246595.1:c.10092C>T, XM_005246596.1:c.10092C>T, XM_005246597.1:c.10092C>T, XM_005246598.1:c.10092C>T, XM_005246599.1:c.10092C>T, XM_005246600.1:c.10092C>T, XM_005246601.1:c.10092C>T, XM_005246602.1:c.10092C>T, XM_005246603.1:c.10092C>T, XM_005246604.1:c.10092C>T, XM_005246605.1:c.10092C>T, XM_005246606.1:c.10092C>T, XM_005246607.1:c.10092C>T, XM_005246608.1:c.10092C>T, XM_005246609.1:c.10092C>T, XM_005246610.1:c.10092C>T, XM_005246611.1:c.10092C>T, XM_005246612.1:c.9363C>T, XM_005246613.1:c.9363C>T, XM_005246614.1:c.10092C>T, XM_005246615.1:c.10092C>T, XM_005246616.1:c.10092C>T, XM_005246617.1:c.10092C>T, XM_005246618.1:c.186C>TVOUS02/12/2015
151NEBEx67NM_004543.4:c.9472T>Ap.Ser3158Thr | p.S3158TNM_001164507.1:c.10201T>A, NM_001164508.1:c.10201T>A, NM_001271208.1:c.10201T>A, NM_004543.3:c.9472T>A, NM_004543.4:c.9472T>A, XM_005246590.1:c.10201T>A, XM_005246591.1:c.10201T>A, XM_005246592.1:c.10201T>A, XM_005246593.1:c.10201T>A, XM_005246594.1:c.10201T>A, XM_005246595.1:c.10201T>A, XM_005246596.1:c.10201T>A, XM_005246597.1:c.10201T>A, XM_005246598.1:c.10201T>A, XM_005246599.1:c.10201T>A, XM_005246600.1:c.10201T>A, XM_005246601.1:c.10201T>A, XM_005246602.1:c.10201T>A, XM_005246603.1:c.10201T>A, XM_005246604.1:c.10201T>A, XM_005246605.1:c.10201T>A, XM_005246606.1:c.10201T>A, XM_005246607.1:c.10201T>A, XM_005246608.1:c.10201T>A, XM_005246609.1:c.10201T>A, XM_005246610.1:c.10201T>A, XM_005246611.1:c.10201T>A, XM_005246612.1:c.9472T>A, XM_005246613.1:c.9472T>A, XM_005246614.1:c.10201T>A, XM_005246615.1:c.10201T>A, XM_005246616.1:c.10201T>A, XM_005246617.1:c.10201T>A, XM_005246618.1:c.295T>AVOUS02/05/2015
152NEBEx67NM_004543.4:c.9502G>Ap.Ala3168Thr | p.A3168TNM_001164507.1:c.10231G>A, NM_001164508.1:c.10231G>A, NM_001271208.1:c.10231G>A, NM_004543.3:c.9502G>A, NM_004543.4:c.9502G>AVOUS02/20/2014
153NEBEx67NM_004543.4:c.9504T>Cp.Ala3168= | p.A3168=NM_001164507.1:c.10233T>C, NM_001164508.1:c.10233T>C, NM_001271208.1:c.10233T>C, NM_004543.3:c.9504T>C, NM_004543.4:c.9504T>CVOUS01/27/2014
154NEBEx67NM_004543.4:c.9612G>Ap.Met3204Ile | p.M3204INM_001164507.1:c.10341G>A, NM_001164508.1:c.10341G>A, NM_001271208.1:c.10341G>A, NM_004543.3:c.9612G>A, NM_004543.4:c.9612G>A, XM_005246590.1:c.10341G>A, XM_005246591.1:c.10341G>A, XM_005246592.1:c.10341G>A, XM_005246593.1:c.10341G>A, XM_005246594.1:c.10341G>A, XM_005246595.1:c.10341G>A, XM_005246596.1:c.10341G>A, XM_005246597.1:c.10341G>A, XM_005246598.1:c.10341G>A, XM_005246599.1:c.10341G>A, XM_005246600.1:c.10341G>A, XM_005246601.1:c.10341G>A, XM_005246602.1:c.10341G>A, XM_005246603.1:c.10341G>A, XM_005246604.1:c.10341G>A, XM_005246605.1:c.10341G>A, XM_005246606.1:c.10341G>A, XM_005246607.1:c.10341G>A, XM_005246608.1:c.10341G>A, XM_005246609.1:c.10341G>A, XM_005246610.1:c.10341G>A, XM_005246611.1:c.10341G>A, XM_005246612.1:c.9612G>A, XM_005246613.1:c.9612G>A, XM_005246614.1:c.10341G>A, XM_005246615.1:c.10341G>A, XM_005246616.1:c.10341G>A, XM_005246617.1:c.10341G>A, XM_005246618.1:c.435G>AVOUS06/23/2015
155NEBEx68NM_004543.4:c.9705T>Cp.Asn3235= | p.N3235=LRG_202t1:c.10434T>C, NM_001164507.1:c.10434T>C, NM_001164508.1:c.10434T>C, NM_001271208.1:c.10434T>C, NM_004543.3:c.9705T>C, NM_004543.4:c.9705T>C, XM_005246590.1:c.10434T>C, XM_005246591.1:c.10434T>C, XM_005246592.1:c.10434T>C, XM_005246593.1:c.10434T>C, XM_005246594.1:c.10434T>C, XM_005246595.1:c.10434T>C, XM_005246596.1:c.10434T>C, XM_005246597.1:c.10434T>C, XM_005246598.1:c.10434T>C, XM_005246599.1:c.10434T>C, XM_005246600.1:c.10434T>C, XM_005246601.1:c.10434T>C, XM_005246602.1:c.10434T>C, XM_005246603.1:c.10434T>C, XM_005246604.1:c.10434T>C, XM_005246605.1:c.10434T>C, XM_005246606.1:c.10434T>C, XM_005246607.1:c.10434T>C, XM_005246608.1:c.10434T>C, XM_005246609.1:c.10434T>C, XM_005246610.1:c.10434T>C, XM_005246611.1:c.10434T>C, XM_005246612.1:c.9705T>C, XM_005246613.1:c.9705T>C, XM_005246614.1:c.10434T>C, XM_005246615.1:c.10434T>C, XM_005246616.1:c.10434T>C, XM_005246617.1:c.10434T>C, XM_005246618.1:c.528T>CVOUS09/25/2018
156NEBEx68NM_004543.4:c.9723+9A>GNM_001164507.1:c.10452+9A>G, NM_001164508.1:c.10452+9A>G, NM_001271208.1:c.10452+9A>G, NM_004543.3:c.9723+9A>G, NM_004543.4:c.9723+9A>G, XM_005246590.1:c.10452+9A>G, XM_005246591.1:c.10452+9A>G, XM_005246592.1:c.10452+9A>G, XM_005246593.1:c.10452+9A>G, XM_005246594.1:c.10452+9A>G, XM_005246595.1:c.10452+9A>G, XM_005246596.1:c.10452+9A>G, XM_005246597.1:c.10452+9A>G, XM_005246598.1:c.10452+9A>G, XM_005246599.1:c.10452+9A>G, XM_005246600.1:c.10452+9A>G, XM_005246601.1:c.10452+9A>G, XM_005246602.1:c.10452+9A>G, XM_005246603.1:c.10452+9A>G, XM_005246604.1:c.10452+9A>G, XM_005246605.1:c.10452+9A>G, XM_005246606.1:c.10452+9A>G, XM_005246607.1:c.10452+9A>G, XM_005246608.1:c.10452+9A>G, XM_005246609.1:c.10452+9A>G, XM_005246610.1:c.10452+9A>G, XM_005246611.1:c.10452+9A>G, XM_005246612.1:c.9723+9A>G, XM_005246613.1:c.9723+9A>G, XM_005246614.1:c.10452+9A>G, XM_005246615.1:c.10452+9A>G, XM_005246616.1:c.10452+9A>G, XM_005246617.1:c.10452+9A>G, XM_005246618.1:c.546+9A>GBenign02/13/2015 
157NEBEx69NM_004543.4:c.9734G>Ap.Arg3245His | p.R3245HNM_001164507.1:c.10463G>A, NM_001164508.1:c.10463G>A, NM_001271208.1:c.10463G>A, NM_004543.3:c.9734G>A, NM_004543.4:c.9734G>ABenign04/15/2015 
158NEBEx70NM_004543.4:c.10015G>Ap.Val3339Ile | p.V3339INM_001164507.1:c.10744G>A, NM_001164508.1:c.10744G>A, NM_001271208.1:c.10744G>A, NM_004543.3:c.10015G>A, NM_004543.4:c.10015G>A, XM_005246590.1:c.10744G>A, XM_005246591.1:c.10744G>A, XM_005246592.1:c.10744G>A, XM_005246593.1:c.10744G>A, XM_005246594.1:c.10744G>A, XM_005246595.1:c.10744G>A, XM_005246596.1:c.10744G>A, XM_005246597.1:c.10744G>A, XM_005246598.1:c.10744G>A, XM_005246599.1:c.10744G>A, XM_005246600.1:c.10744G>A, XM_005246601.1:c.10744G>A, XM_005246602.1:c.10744G>A, XM_005246603.1:c.10744G>A, XM_005246604.1:c.10744G>A, XM_005246605.1:c.10744G>A, XM_005246606.1:c.10744G>A, XM_005246607.1:c.10744G>A, XM_005246608.1:c.10744G>A, XM_005246609.1:c.10744G>A, XM_005246610.1:c.10744G>A, XM_005246611.1:c.10744G>A, XM_005246612.1:c.10015G>A, XM_005246613.1:c.10015G>A, XM_005246614.1:c.10744G>A, XM_005246615.1:c.10744G>A, XM_005246617.1:c.10560+1340G>A, XM_005246618.1:c.838G>ALikely benign05/16/2018 
159NEBEx70NM_004543.4:c.10080G>Cp.Trp3360Cys | p.W3360CNM_001164507.1:c.10809G>C, NM_001164508.1:c.10809G>C, NM_001271208.1:c.10809G>C, NM_004543.3:c.10080G>C, NM_004543.4:c.10080G>CBenign05/07/2014 
160NEBEx70NM_004543.4:c.10131C>Ap.Asp3377Glu | p.D3377ELRG_202t1:c.10860C>A, NM_001164507.1:c.10860C>A, NM_001164508.1:c.10860C>A, NM_001271208.1:c.10860C>A, NM_004543.3:c.10131C>A, NM_004543.4:c.10131C>A, XM_005246590.1:c.10860C>A, XM_005246591.1:c.10860C>A, XM_005246592.1:c.10860C>A, XM_005246593.1:c.10860C>A, XM_005246594.1:c.10860C>A, XM_005246595.1:c.10860C>A, XM_005246596.1:c.10860C>A, XM_005246597.1:c.10860C>A, XM_005246598.1:c.10860C>A, XM_005246599.1:c.10860C>A, XM_005246600.1:c.10860C>A, XM_005246601.1:c.10860C>A, XM_005246602.1:c.10860C>A, XM_005246603.1:c.10860C>A, XM_005246604.1:c.10860C>A, XM_005246605.1:c.10860C>A, XM_005246606.1:c.10860C>A, XM_005246607.1:c.10860C>A, XM_005246608.1:c.10860C>A, XM_005246609.1:c.10860C>A, XM_005246610.1:c.10860C>A, XM_005246611.1:c.10860C>A, XM_005246612.1:c.10131C>A, XM_005246613.1:c.10131C>A, XM_005246614.1:c.10860C>A, XM_005246615.1:c.10860C>A, XM_005246616.1:c.10860C>A, XM_005246617.1:c.10560+1456C>A, XM_005246618.1:c.954C>AVOUS08/25/2016
161NEBEx71NM_004543.4:c.10275G>Ap.Thr3425= | p.T3425=NM_001164507.1:c.11004G>A, NM_001164508.1:c.11004G>A, NM_001271208.1:c.11004G>A, NM_004543.3:c.10275G>A, NM_004543.4:c.10275G>A, XM_005246590.1:c.11004G>A, XM_005246591.1:c.11004G>A, XM_005246592.1:c.11004G>A, XM_005246593.1:c.11004G>A, XM_005246594.1:c.11004G>A, XM_005246595.1:c.11004G>A, XM_005246596.1:c.11004G>A, XM_005246597.1:c.11004G>A, XM_005246598.1:c.11004G>A, XM_005246599.1:c.11004G>A, XM_005246600.1:c.11004G>A, XM_005246601.1:c.11004G>A, XM_005246602.1:c.11004G>A, XM_005246603.1:c.11004G>A, XM_005246604.1:c.11004G>A, XM_005246605.1:c.11004G>A, XM_005246606.1:c.11004G>A, XM_005246607.1:c.11004G>A, XM_005246608.1:c.11004G>A, XM_005246609.1:c.11004G>A, XM_005246610.1:c.11004G>A, XM_005246611.1:c.11004G>A, XM_005246612.1:c.10275G>A, XM_005246613.1:c.10275G>A, XM_005246614.1:c.11004G>A, XM_005246615.1:c.11004G>A, XM_005246616.1:c.11004G>A, XM_005246617.1:c.10560+2572G>A, XM_005246618.1:c.1098G>ABenign02/13/2015 
162NEBEx72NM_004543.4:c.10348-21_10348-20dupCTNM_001164507.1:c.11077-20_11077-19insCT, NM_001164508.1:c.11077-20_11077-19insCT, NM_001271208.1:c.11077-20_11077-19insCT, NM_004543.3:c.10348-20_10348-19insCT, NM_004543.4:c.10348-20_10348-19insCT, XM_005246590.1:c.11077-20_11077-19insCT, XM_005246591.1:c.11077-20_11077-19insCT, XM_005246592.1:c.11077-20_11077-19insCT, XM_005246593.1:c.11077-20_11077-19insCT, XM_005246594.1:c.11077-20_11077-19insCT, XM_005246595.1:c.11077-20_11077-19insCT, XM_005246596.1:c.11077-20_11077-19insCT, XM_005246597.1:c.11077-20_11077-19insCT, XM_005246598.1:c.11077-20_11077-19insCT, XM_005246599.1:c.11077-20_11077-19insCT, XM_005246600.1:c.11077-20_11077-19insCT, XM_005246601.1:c.11077-20_11077-19insCT, XM_005246602.1:c.11077-20_11077-19insCT, XM_005246603.1:c.11077-20_11077-19insCT, XM_005246604.1:c.11077-20_11077-19insCT, XM_005246605.1:c.11077-20_11077-19insCT, XM_005246606.1:c.11077-20_11077-19insCT, XM_005246607.1:c.11077-20_11077-19insCT, XM_005246608.1:c.11077-20_11077-19insCT, XM_005246609.1:c.110Benign11/15/2013 
163NEBEx72NM_004543.4:c.10348-5delTNM_001164507.1:c.11077-5delT, NM_001164508.1:c.11077-5delT, NM_001271208.1:c.11077-5delT, NM_004543.3:c.10348-5delT, NM_004543.4:c.10348-5delT, XM_005246590.1:c.11077-5delT, XM_005246591.1:c.11077-5delT, XM_005246592.1:c.11077-5delT, XM_005246593.1:c.11077-5delT, XM_005246594.1:c.11077-5delT, XM_005246595.1:c.11077-5delT, XM_005246596.1:c.11077-5delT, XM_005246597.1:c.11077-5delT, XM_005246598.1:c.11077-5delT, XM_005246599.1:c.11077-5delT, XM_005246600.1:c.11077-5delT, XM_005246601.1:c.11077-5delT, XM_005246602.1:c.11077-5delT, XM_005246603.1:c.11077-5delT, XM_005246604.1:c.11077-5delT, XM_005246605.1:c.11077-5delT, XM_005246606.1:c.11077-5delT, XM_005246607.1:c.11077-5delT, XM_005246608.1:c.11077-5delT, XM_005246609.1:c.11077-5delT, XM_005246610.1:c.11077-5delT, XM_005246611.1:c.11077-5delT, XM_005246612.1:c.10348-5delT, XM_005246613.1:c.10348-5delT, XM_005246614.1:c.11077-5delT, XM_005246615.1:c.11077-5delT, XM_005246616.1:c.11077-5delT, XM_005246617.1:c.10560+3446delT, XM_00524661Benign12/01/2014 
164NEBEx72NM_004543.4:c.10348-4G>TNM_001164507.1:c.11077-4G>T, NM_001164508.1:c.11077-4G>T, NM_001271208.1:c.11077-4G>T, NM_004543.3:c.10348-4G>T, NM_004543.4:c.10348-4G>T, XM_005246590.1:c.11077-4G>T, XM_005246591.1:c.11077-4G>T, XM_005246592.1:c.11077-4G>T, XM_005246593.1:c.11077-4G>T, XM_005246594.1:c.11077-4G>T, XM_005246595.1:c.11077-4G>T, XM_005246596.1:c.11077-4G>T, XM_005246597.1:c.11077-4G>T, XM_005246598.1:c.11077-4G>T, XM_005246599.1:c.11077-4G>T, XM_005246600.1:c.11077-4G>T, XM_005246601.1:c.11077-4G>T, XM_005246602.1:c.11077-4G>T, XM_005246603.1:c.11077-4G>T, XM_005246604.1:c.11077-4G>T, XM_005246605.1:c.11077-4G>T, XM_005246606.1:c.11077-4G>T, XM_005246607.1:c.11077-4G>T, XM_005246608.1:c.11077-4G>T, XM_005246609.1:c.11077-4G>T, XM_005246610.1:c.11077-4G>T, XM_005246611.1:c.11077-4G>T, XM_005246612.1:c.10348-4G>T, XM_005246613.1:c.10348-4G>T, XM_005246614.1:c.11077-4G>T, XM_005246615.1:c.11077-4G>T, XM_005246616.1:c.11077-4G>T, XM_005246617.1:c.10560+3447G>T, XM_005246618.1:c.1171-4G>TBenign10/13/2015 
165NEBEx73NM_004543.4:c.10455delALRG_202t1:c.11184delA, NM_001164507.1:c.11184delA, NM_001164508.1:c.11184delA, NM_001271208.1:c.11184delA, NM_004543.3:c.10455delA, NM_004543.4:c.10455delA, XM_005246590.1:c.11184delA, XM_005246591.1:c.11184delA, XM_005246592.1:c.11184delA, XM_005246593.1:c.11184delA, XM_005246594.1:c.11184delA, XM_005246595.1:c.11184delA, XM_005246596.1:c.11184delA, XM_005246597.1:c.11184delA, XM_005246598.1:c.11184delA, XM_005246599.1:c.11184delA, XM_005246600.1:c.11184delA, XM_005246601.1:c.11184delA, XM_005246602.1:c.11184delA, XM_005246603.1:c.11184delA, XM_005246604.1:c.11184delA, XM_005246605.1:c.11184delA, XM_005246606.1:c.11184delA, XM_005246607.1:c.11184delA, XM_005246608.1:c.11184delA, XM_005246609.1:c.11184delA, XM_005246610.1:c.11184delA, XM_005246611.1:c.11184delA, XM_005246612.1:c.10455delA, XM_005246613.1:c.10455delA, XM_005246614.1:c.11184delA, XM_005246615.1:c.11184delA, XM_005246616.1:c.11184delA, XM_005246617.1:c.10560+4812delA, XM_005246618.1:c.1278delAPathogenic11/22/2016 
166NEBEx75NM_004543.4:c.11025C>Tp.Thr3675= | p.T3675=LRG_202t1:c.11754C>T, NM_001164507.1:c.11754C>T, NM_001164508.1:c.11754C>T, NM_001271208.1:c.11754C>T, NM_004543.3:c.11025C>T, NM_004543.4:c.11025C>T, XM_005246590.1:c.11754C>T, XM_005246591.1:c.11754C>T, XM_005246592.1:c.11754C>T, XM_005246593.1:c.11754C>T, XM_005246594.1:c.11754C>T, XM_005246595.1:c.11754C>T, XM_005246596.1:c.11754C>T, XM_005246597.1:c.11754C>T, XM_005246598.1:c.11754C>T, XM_005246599.1:c.11754C>T, XM_005246600.1:c.11754C>T, XM_005246601.1:c.11754C>T, XM_005246602.1:c.11754C>T, XM_005246603.1:c.11754C>T, XM_005246604.1:c.11754C>T, XM_005246605.1:c.11754C>T, XM_005246606.1:c.11754C>T, XM_005246607.1:c.11754C>T, XM_005246608.1:c.11754C>T, XM_005246609.1:c.11754C>T, XM_005246610.1:c.11754C>T, XM_005246611.1:c.11754C>T, XM_005246612.1:c.11025C>T, XM_005246613.1:c.11025C>T, XM_005246614.1:c.11754C>T, XM_005246615.1:c.11754C>T, XM_005246616.1:c.11754C>T, XM_005246617.1:c.10560+8682C>T, XM_005246618.1:c.1848C>TVOUS10/07/2016
167NEBEx77NM_004543.4:c.11253C>Ap.Ile3751= | p.I3751=LRG_202t1:c.11982C>A, NM_001164507.1:c.11982C>A, NM_001164508.1:c.11982C>A, NM_001271208.1:c.11982C>A, NM_004543.3:c.11253C>A, NM_004543.4:c.11253C>A, XM_005246590.1:c.11982C>A, XM_005246591.1:c.11982C>A, XM_005246592.1:c.11982C>A, XM_005246593.1:c.11982C>A, XM_005246594.1:c.11982C>A, XM_005246595.1:c.11982C>A, XM_005246596.1:c.11982C>A, XM_005246597.1:c.11982C>A, XM_005246598.1:c.11982C>A, XM_005246599.1:c.11982C>A, XM_005246600.1:c.11982C>A, XM_005246601.1:c.11982C>A, XM_005246602.1:c.11982C>A, XM_005246603.1:c.11982C>A, XM_005246604.1:c.11982C>A, XM_005246605.1:c.11982C>A, XM_005246606.1:c.11982C>A, XM_005246607.1:c.11982C>A, XM_005246608.1:c.11982C>A, XM_005246609.1:c.11982C>A, XM_005246610.1:c.11982C>A, XM_005246611.1:c.11982C>A, XM_005246612.1:c.11253C>A, XM_005246613.1:c.11253C>A, XM_005246614.1:c.11982C>A, XM_005246615.1:c.11982C>A, XM_005246616.1:c.11982C>A, XM_005246617.1:c.10561-9799C>A, XM_005246618.1:c.2076C>AVOUS01/23/2017
168NEBEx78NM_004543.4:c.11418G>Ap.Lys3806= | p.K3806=Benign04/22/2013 
169NEBEx78NM_004543.4:c.11492dupA** ERROR **, LRG_202t1:c.12221_12222insA, NM_001164507.1:c.12221_12222insA, NM_001164508.1:c.12221_12222insA, NM_001271208.1:c.12221_12222insA, NM_004543.3:c.11492_11493insA, NM_004543.4:c.11492_11493insA, XM_005246590.1:c.12221_12222insA, XM_005246591.1:c.12221_12222insA, XM_005246592.1:c.12221_12222insA, XM_005246593.1:c.12221_12222insA, XM_005246594.1:c.12221_12222insA, XM_005246595.1:c.12221_12222insA, XM_005246596.1:c.12221_12222insA, XM_005246597.1:c.12221_12222insA, XM_005246598.1:c.12221_12222insA, XM_005246599.1:c.12221_12222insA, XM_005246600.1:c.12221_12222insA, XM_005246601.1:c.12221_12222insA, XM_005246602.1:c.12221_12222insA, XM_005246603.1:c.12221_12222insA, XM_005246604.1:c.12221_12222insA, XM_005246605.1:c.12221_12222insA, XM_005246606.1:c.12221_12222insA, XM_005246607.1:c.12221_12222insA, XM_005246608.1:c.12221_12222insA, XM_005246609.1:c.12221_12222insA, XM_005246610.1:c.12221_12222insA, XM_005246611.1:c.12221_12222insA, XM_005246612.1:c.11492_11493insA, XM_0052466Pathogenic02/24/2017 
170NEBEx79NM_004543.4:c.11602-18C>TNM_001164507.1:c.16705-18C>T, NM_001164508.1:c.16705-18C>T, NM_001271208.1:c.16705-18C>T, NM_004543.3:c.11602-18C>T, NM_004543.4:c.11602-18C>TBenign10/04/2013 
171NEBEx79NM_004543.4:c.11714A>Gp.Tyr3905Cys | p.Y3905CNM_001164507.1:c.16817A>G, NM_001164508.1:c.16817A>G, NM_001271208.1:c.16817A>G, NM_004543.3:c.11714A>G, NM_004543.4:c.11714A>G, XM_005246590.1:c.16817A>G, XM_005246591.1:c.16817A>G, XM_005246592.1:c.16817A>G, XM_005246593.1:c.16817A>G, XM_005246594.1:c.16817A>G, XM_005246595.1:c.16817A>G, XM_005246596.1:c.16817A>G, XM_005246597.1:c.16817A>G, XM_005246598.1:c.16817A>G, XM_005246599.1:c.16817A>G, XM_005246600.1:c.16817A>G, XM_005246601.1:c.16817A>G, XM_005246602.1:c.16817A>G, XM_005246603.1:c.16817A>G, XM_005246604.1:c.16817A>G, XM_005246605.1:c.16817A>G, XM_005246606.1:c.16817A>G, XM_005246607.1:c.16817A>G, XM_005246608.1:c.16817A>G, XM_005246609.1:c.16817A>G, XM_005246610.1:c.16817A>G, XM_005246611.1:c.16817A>G, XM_005246612.1:c.16088A>G, XM_005246613.1:c.16088A>G, XM_005246614.1:c.16817A>G, XM_005246615.1:c.16817A>G, XM_005246616.1:c.16817A>G, XM_005246617.1:c.13901A>G, XM_005246618.1:c.6911A>GVOUS10/30/2014
172NEBEx79NM_004543.4:c.11721G>Cp.Thr3907= | p.T3907=LRG_202t1:c.16824G>C, NM_001164507.1:c.16824G>C, NM_001164508.1:c.16824G>C, NM_001271208.1:c.16824G>C, NM_004543.3:c.11721G>C, NM_004543.4:c.11721G>C, XM_005246590.1:c.16824G>C, XM_005246591.1:c.16824G>C, XM_005246592.1:c.16824G>C, XM_005246593.1:c.16824G>C, XM_005246594.1:c.16824G>C, XM_005246595.1:c.16824G>C, XM_005246596.1:c.16824G>C, XM_005246597.1:c.16824G>C, XM_005246598.1:c.16824G>C, XM_005246599.1:c.16824G>C, XM_005246600.1:c.16824G>C, XM_005246601.1:c.16824G>C, XM_005246602.1:c.16824G>C, XM_005246603.1:c.16824G>C, XM_005246604.1:c.16824G>C, XM_005246605.1:c.16824G>C, XM_005246606.1:c.16824G>C, XM_005246607.1:c.16824G>C, XM_005246608.1:c.16824G>C, XM_005246609.1:c.16824G>C, XM_005246610.1:c.16824G>C, XM_005246611.1:c.16824G>C, XM_005246612.1:c.16095G>C, XM_005246613.1:c.16095G>C, XM_005246614.1:c.16824G>C, XM_005246615.1:c.16824G>C, XM_005246616.1:c.16824G>C, XM_005246617.1:c.13908G>C, XM_005246618.1:c.6918G>CVOUS01/13/2017
173NEBEx79NM_004543.4:c.11772C>Tp.Val3924= | p.V3924=LRG_202t1:c.16875C>T, NM_001164507.1:c.16875C>T, NM_001164508.1:c.16875C>T, NM_001271208.1:c.16875C>T, NM_004543.3:c.11772C>T, NM_004543.4:c.11772C>T, XM_005246590.1:c.16875C>T, XM_005246591.1:c.16875C>T, XM_005246592.1:c.16875C>T, XM_005246593.1:c.16875C>T, XM_005246594.1:c.16875C>T, XM_005246595.1:c.16875C>T, XM_005246596.1:c.16875C>T, XM_005246597.1:c.16875C>T, XM_005246598.1:c.16875C>T, XM_005246599.1:c.16875C>T, XM_005246600.1:c.16875C>T, XM_005246601.1:c.16875C>T, XM_005246602.1:c.16875C>T, XM_005246603.1:c.16875C>T, XM_005246604.1:c.16875C>T, XM_005246605.1:c.16875C>T, XM_005246606.1:c.16875C>T, XM_005246607.1:c.16875C>T, XM_005246608.1:c.16875C>T, XM_005246609.1:c.16875C>T, XM_005246610.1:c.16875C>T, XM_005246611.1:c.16875C>T, XM_005246612.1:c.16146C>T, XM_005246613.1:c.16146C>T, XM_005246614.1:c.16875C>T, XM_005246615.1:c.16875C>T, XM_005246616.1:c.16875C>T, XM_005246617.1:c.13959C>T, XM_005246618.1:c.6969C>TVOUS04/27/2016
174NEBEx80NM_004543.4:c.11808A>Gp.Pro3936= | p.P3936=NM_001164507.1:c.16911A>G, NM_001164508.1:c.16911A>G, NM_001271208.1:c.16911A>G, NM_004543.3:c.11808A>G, NM_004543.4:c.11808A>GBenign08/23/2013 
175NEBEx81NM_004543.4:c.11958C>Gp.Val3986= | p.V3986=NM_001164507.1:c.17061C>G, NM_001164508.1:c.17061C>G, NM_001271208.1:c.17061C>G, NM_004543.3:c.11958C>G, NM_004543.4:c.11958C>G, XM_005246590.1:c.17061C>G, XM_005246591.1:c.17061C>G, XM_005246592.1:c.17061C>G, XM_005246593.1:c.17061C>G, XM_005246594.1:c.17061C>G, XM_005246595.1:c.17061C>G, XM_005246596.1:c.17061C>G, XM_005246597.1:c.17061C>G, XM_005246598.1:c.17061C>G, XM_005246599.1:c.17061C>G, XM_005246600.1:c.17061C>G, XM_005246601.1:c.17061C>G, XM_005246602.1:c.17061C>G, XM_005246603.1:c.17061C>G, XM_005246604.1:c.17061C>G, XM_005246605.1:c.17061C>G, XM_005246606.1:c.17061C>G, XM_005246607.1:c.17061C>G, XM_005246608.1:c.17061C>G, XM_005246609.1:c.17061C>G, XM_005246610.1:c.17061C>G, XM_005246611.1:c.17061C>G, XM_005246612.1:c.16332C>G, XM_005246613.1:c.16332C>G, XM_005246614.1:c.17061C>G, XM_005246615.1:c.17061C>G, XM_005246616.1:c.17061C>G, XM_005246617.1:c.14145C>G, XM_005246618.1:c.7155C>GVOUS12/28/2015
176NEBEx83NM_004543.4:c.12394G>Ap.Val4132Ile | p.V4132ILRG_202t1:c.17497G>A, NM_001164507.1:c.17497G>A, NM_001164508.1:c.17497G>A, NM_001271208.1:c.17497G>A, NM_004543.3:c.12394G>A, NM_004543.4:c.12394G>A, XM_005246590.1:c.17497G>A, XM_005246591.1:c.17497G>A, XM_005246592.1:c.17497G>A, XM_005246593.1:c.17497G>A, XM_005246594.1:c.17497G>A, XM_005246595.1:c.17497G>A, XM_005246596.1:c.17497G>A, XM_005246597.1:c.17497G>A, XM_005246598.1:c.17497G>A, XM_005246599.1:c.17497G>A, XM_005246600.1:c.17497G>A, XM_005246601.1:c.17497G>A, XM_005246602.1:c.17497G>A, XM_005246603.1:c.17497G>A, XM_005246604.1:c.17497G>A, XM_005246605.1:c.17497G>A, XM_005246606.1:c.17497G>A, XM_005246607.1:c.17497G>A, XM_005246608.1:c.17497G>A, XM_005246609.1:c.17497G>A, XM_005246610.1:c.17497G>A, XM_005246611.1:c.17497G>A, XM_005246612.1:c.16768G>A, XM_005246613.1:c.16768G>A, XM_005246614.1:c.17497G>A, XM_005246615.1:c.17497G>A, XM_005246616.1:c.17497G>A, XM_005246617.1:c.14581G>A, XM_005246618.1:c.7591G>ALikely benign10/17/2017 
177NEBEx83NM_004543.4:c.12407A>Gp.Lys4136Arg | p.K4136RLRG_202t1:c.17510A>G, NM_001164507.1:c.17510A>G, NM_001164508.1:c.17510A>G, NM_001271208.1:c.17510A>G, NM_004543.3:c.12407A>G, NM_004543.4:c.12407A>G, XM_005246590.1:c.17510A>G, XM_005246591.1:c.17510A>G, XM_005246592.1:c.17510A>G, XM_005246593.1:c.17510A>G, XM_005246594.1:c.17510A>G, XM_005246595.1:c.17510A>G, XM_005246596.1:c.17510A>G, XM_005246597.1:c.17510A>G, XM_005246598.1:c.17510A>G, XM_005246599.1:c.17510A>G, XM_005246600.1:c.17510A>G, XM_005246601.1:c.17510A>G, XM_005246602.1:c.17510A>G, XM_005246603.1:c.17510A>G, XM_005246604.1:c.17510A>G, XM_005246605.1:c.17510A>G, XM_005246606.1:c.17510A>G, XM_005246607.1:c.17510A>G, XM_005246608.1:c.17510A>G, XM_005246609.1:c.17510A>G, XM_005246610.1:c.17510A>G, XM_005246611.1:c.17510A>G, XM_005246612.1:c.16781A>G, XM_005246613.1:c.16781A>G, XM_005246614.1:c.17510A>G, XM_005246615.1:c.17510A>G, XM_005246616.1:c.17510A>G, XM_005246617.1:c.14594A>G, XM_005246618.1:c.7604A>GVOUS07/31/2017
178NEBEx84NM_004543.4:c.12438dupALRG_202t1:c.17541_17542insA, NM_001164507.1:c.17541_17542insA, NM_001164508.1:c.17541_17542insA, NM_001271208.1:c.17541_17542insA, NM_004543.3:c.12438_12439insA, NM_004543.4:c.12438_12439insA, XM_005246590.1:c.17541_17542insA, XM_005246591.1:c.17541_17542insA, XM_005246592.1:c.17541_17542insA, XM_005246593.1:c.17541_17542insA, XM_005246594.1:c.17541_17542insA, XM_005246595.1:c.17541_17542insA, XM_005246596.1:c.17541_17542insA, XM_005246597.1:c.17541_17542insA, XM_005246598.1:c.17541_17542insA, XM_005246599.1:c.17541_17542insA, XM_005246600.1:c.17541_17542insA, XM_005246601.1:c.17541_17542insA, XM_005246602.1:c.17541_17542insA, XM_005246603.1:c.17541_17542insA, XM_005246604.1:c.17541_17542insA, XM_005246605.1:c.17541_17542insA, XM_005246606.1:c.17541_17542insA, XM_005246607.1:c.17541_17542insA, XM_005246608.1:c.17541_17542insA, XM_005246609.1:c.17541_17542insA, XM_005246610.1:c.17541_17542insA, XM_005246611.1:c.17541_17542insA, XM_005246612.1:c.16812_16813insA, XM_005246613.1:c.16812_Pathogenic05/25/2016 
179NEBEx84NM_004543.4:c.12454_12455delGALRG_202t1:c.17557_17558delGA, NM_001164507.1:c.17557_17558delGA, NM_001164508.1:c.17557_17558delGA, NM_001271208.1:c.17557_17558delGA, NM_004543.3:c.12454_12455delGA, NM_004543.4:c.12454_12455delGA, XM_005246590.1:c.17557_17558delGA, XM_005246591.1:c.17557_17558delGA, XM_005246592.1:c.17557_17558delGA, XM_005246593.1:c.17557_17558delGA, XM_005246594.1:c.17557_17558delGA, XM_005246595.1:c.17557_17558delGA, XM_005246596.1:c.17557_17558delGA, XM_005246597.1:c.17557_17558delGA, XM_005246598.1:c.17557_17558delGA, XM_005246599.1:c.17557_17558delGA, XM_005246600.1:c.17557_17558delGA, XM_005246601.1:c.17557_17558delGA, XM_005246602.1:c.17557_17558delGA, XM_005246603.1:c.17557_17558delGA, XM_005246604.1:c.17557_17558delGA, XM_005246605.1:c.17557_17558delGA, XM_005246606.1:c.17557_17558delGA, XM_005246607.1:c.17557_17558delGA, XM_005246608.1:c.17557_17558delGA, XM_005246609.1:c.17557_17558delGA, XM_005246610.1:c.17557_17558delGA, XM_005246611.1:c.17557_17558delGA, XM_005246612.1:c.16828_16829dPathogenic07/12/2016 
180NEBEx84NM_004543.4:c.12485G>Cp.Arg4162Thr | p.R4162TNM_001164507.1:c.17588G>C, NM_001164508.1:c.17588G>C, NM_001271208.1:c.17588G>C, NM_004543.3:c.12485G>C, NM_004543.4:c.12485G>CVOUS04/04/2014
181NEBEx85NM_004543.4:c.12532-3delTNM_001164507.1:c.17635-3delT, NM_001164508.1:c.17635-3delT, NM_001271208.1:c.17635-3delT, NM_004543.3:c.12532-3delT, NM_004543.4:c.12532-3delT, XM_005246590.1:c.17635-3delT, XM_005246591.1:c.17635-3delT, XM_005246592.1:c.17635-3delT, XM_005246593.1:c.17635-3delT, XM_005246594.1:c.17635-3delT, XM_005246595.1:c.17635-3delT, XM_005246596.1:c.17635-3delT, XM_005246597.1:c.17635-3delT, XM_005246598.1:c.17635-3delT, XM_005246599.1:c.17635-3delT, XM_005246600.1:c.17635-3delT, XM_005246601.1:c.17635-3delT, XM_005246602.1:c.17635-3delT, XM_005246603.1:c.17635-3delT, XM_005246604.1:c.17635-3delT, XM_005246605.1:c.17635-3delT, XM_005246606.1:c.17635-3delT, XM_005246607.1:c.17635-3delT, XM_005246608.1:c.17635-3delT, XM_005246609.1:c.17635-3delT, XM_005246610.1:c.17635-3delT, XM_005246611.1:c.17635-3delT, XM_005246612.1:c.16906-3delT, XM_005246613.1:c.16906-3delT, XM_005246614.1:c.17635-3delT, XM_005246615.1:c.17635-3delT, XM_005246616.1:c.17635-3delT, XM_005246617.1:c.14719-3delT, XM_005246618.1Benign09/30/2014 
182NEBEx86NM_004543.4:c.12735G>Ap.Gln4245= | p.Q4245=NM_001164507.1:c.17838G>A, NM_001164508.1:c.17838G>A, NM_001271208.1:c.17838G>A, NM_004543.3:c.12735G>A, NM_004543.4:c.12735G>A, XM_005246590.1:c.17838G>A, XM_005246591.1:c.17838G>A, XM_005246592.1:c.17838G>A, XM_005246593.1:c.17838G>A, XM_005246594.1:c.17838G>A, XM_005246595.1:c.17838G>A, XM_005246596.1:c.17838G>A, XM_005246597.1:c.17838G>A, XM_005246598.1:c.17838G>A, XM_005246599.1:c.17838G>A, XM_005246600.1:c.17838G>A, XM_005246601.1:c.17838G>A, XM_005246602.1:c.17838G>A, XM_005246603.1:c.17838G>A, XM_005246604.1:c.17838G>A, XM_005246605.1:c.17838G>A, XM_005246606.1:c.17838G>A, XM_005246607.1:c.17838G>A, XM_005246608.1:c.17838G>A, XM_005246609.1:c.17838G>A, XM_005246610.1:c.17838G>A, XM_005246611.1:c.17838G>A, XM_005246612.1:c.17109G>A, XM_005246613.1:c.17109G>A, XM_005246614.1:c.17838G>A, XM_005246615.1:c.17838G>A, XM_005246616.1:c.17838G>A, XM_005246617.1:c.14922G>A, XM_005246618.1:c.7932G>AVOUS12/28/2015
183NEBEx86NM_004543.4:c.12741+7C>TVOUS01/14/2021
184NEBEx87NM_004543.4:c.12784G>Ap.Val4262Ile | p.V4262INM_001164507.1:c.17887G>A, NM_001164508.1:c.17887G>A, NM_001271208.1:c.17887G>A, NM_004543.3:c.12784G>A, NM_004543.4:c.12784G>A, XM_005246590.1:c.17887G>A, XM_005246591.1:c.17887G>A, XM_005246592.1:c.17887G>A, XM_005246593.1:c.17887G>A, XM_005246594.1:c.17887G>A, XM_005246595.1:c.17887G>A, XM_005246596.1:c.17887G>A, XM_005246597.1:c.17887G>A, XM_005246598.1:c.17887G>A, XM_005246599.1:c.17887G>A, XM_005246600.1:c.17887G>A, XM_005246601.1:c.17887G>A, XM_005246602.1:c.17887G>A, XM_005246603.1:c.17887G>A, XM_005246604.1:c.17887G>A, XM_005246605.1:c.17887G>A, XM_005246606.1:c.17887G>A, XM_005246607.1:c.17887G>A, XM_005246608.1:c.17887G>A, XM_005246609.1:c.17887G>A, XM_005246610.1:c.17887G>A, XM_005246611.1:c.17887G>A, XM_005246612.1:c.17158G>A, XM_005246613.1:c.17158G>A, XM_005246614.1:c.17887G>A, XM_005246615.1:c.17887G>A, XM_005246616.1:c.17887G>A, XM_005246617.1:c.14971G>A, XM_005246618.1:c.7981G>ABenign11/06/2014 
185NEBEx87NM_004543.4:c.13037A>Gp.Tyr4346Cys | p.Y4346CNM_001164507.1:c.18140A>G, NM_001164508.1:c.18140A>G, NM_001271208.1:c.18140A>G, NM_004543.3:c.13037A>G, NM_004543.4:c.13037A>G, XM_005246590.1:c.18140A>G, XM_005246591.1:c.18140A>G, XM_005246592.1:c.18140A>G, XM_005246593.1:c.18140A>G, XM_005246594.1:c.18140A>G, XM_005246595.1:c.18140A>G, XM_005246596.1:c.18140A>G, XM_005246597.1:c.18140A>G, XM_005246598.1:c.18140A>G, XM_005246599.1:c.18140A>G, XM_005246600.1:c.18140A>G, XM_005246601.1:c.18140A>G, XM_005246602.1:c.18140A>G, XM_005246603.1:c.18140A>G, XM_005246604.1:c.18140A>G, XM_005246605.1:c.18140A>G, XM_005246606.1:c.18140A>G, XM_005246607.1:c.18140A>G, XM_005246608.1:c.18140A>G, XM_005246609.1:c.18140A>G, XM_005246610.1:c.18140A>G, XM_005246611.1:c.18140A>G, XM_005246612.1:c.17411A>G, XM_005246613.1:c.17411A>G, XM_005246614.1:c.18140A>G, XM_005246615.1:c.18140A>G, XM_005246616.1:c.18140A>G, XM_005246617.1:c.15224A>G, XM_005246618.1:c.8234A>GVOUS10/28/2014
186NEBEx89NM_004543.4:c.13191T>Cp.Tyr4397= | p.Y4397=NM_001164507.1:c.18294T>C, NM_001164508.1:c.18294T>C, NM_001271208.1:c.18294T>C, NM_004543.3:c.13191T>C, NM_004543.4:c.13191T>CBenign11/14/2013 
187NEBEx89NM_004543.4:c.13202G>Cp.Arg4401Thr | p.R4401TNM_001164507.1:c.18305G>C, NM_001164508.1:c.18305G>C, NM_001271208.1:c.18305G>C, NM_004543.3:c.13202G>C, NM_004543.4:c.13202G>CBenign04/05/2013 
188NEBEx91NM_004543.4:c.13427G>Ap.Arg4476His | p.R4476HNM_004543.4:c.13427G>AVOUS12/04/2013
189NEBEx92NM_004543.4:c.13590G>Cp.Ala4530= | p.A4530=NM_001164507.1:c.18693G>C, NM_001164508.1:c.18693G>C, NM_001271208.1:c.18693G>C, NM_004543.3:c.13590G>C, NM_004543.4:c.13590G>C, XM_005246590.1:c.18693G>C, XM_005246591.1:c.18693G>C, XM_005246592.1:c.18693G>C, XM_005246593.1:c.18693G>C, XM_005246594.1:c.18693G>C, XM_005246595.1:c.18693G>C, XM_005246596.1:c.18693G>C, XM_005246597.1:c.18693G>C, XM_005246598.1:c.18693G>C, XM_005246599.1:c.18693G>C, XM_005246600.1:c.18693G>C, XM_005246601.1:c.18693G>C, XM_005246602.1:c.18693G>C, XM_005246603.1:c.18693G>C, XM_005246604.1:c.18693G>C, XM_005246605.1:c.18693G>C, XM_005246606.1:c.18693G>C, XM_005246607.1:c.18693G>C, XM_005246608.1:c.18693G>C, XM_005246609.1:c.18693G>C, XM_005246610.1:c.18693G>C, XM_005246611.1:c.18693G>C, XM_005246612.1:c.17964G>C, XM_005246613.1:c.17964G>C, XM_005246614.1:c.18693G>C, XM_005246615.1:c.18693G>C, XM_005246616.1:c.18693G>C, XM_005246617.1:c.15777G>C, XM_005246618.1:c.8787G>CBenign02/13/2015 
190NEBEx93NM_004543.4:c.13680G>Ap.Gln4560= | p.Q4560=NM_001164507.1:c.18783G>A, NM_001164508.1:c.18783G>A, NM_001271208.1:c.18783G>A, NM_004543.3:c.13680G>A, NM_004543.4:c.13680G>A, XM_005246590.1:c.18783G>A, XM_005246591.1:c.18783G>A, XM_005246592.1:c.18783G>A, XM_005246593.1:c.18783G>A, XM_005246594.1:c.18783G>A, XM_005246595.1:c.18783G>A, XM_005246596.1:c.18783G>A, XM_005246597.1:c.18783G>A, XM_005246598.1:c.18783G>A, XM_005246599.1:c.18783G>A, XM_005246600.1:c.18783G>A, XM_005246601.1:c.18783G>A, XM_005246602.1:c.18783G>A, XM_005246603.1:c.18783G>A, XM_005246604.1:c.18783G>A, XM_005246605.1:c.18783G>A, XM_005246606.1:c.18783G>A, XM_005246607.1:c.18783G>A, XM_005246608.1:c.18783G>A, XM_005246609.1:c.18783G>A, XM_005246610.1:c.18783G>A, XM_005246611.1:c.18783G>A, XM_005246612.1:c.18054G>A, XM_005246613.1:c.18054G>A, XM_005246614.1:c.18783G>A, XM_005246615.1:c.18783G>A, XM_005246616.1:c.18783G>A, XM_005246617.1:c.15867G>A, XM_005246618.1:c.8877G>ABenign04/15/2015 
191NEBEx93NM_004543.4:c.13683C>Tp.Tyr4561= | p.Y4561=NM_001164507.1:c.18786C>T, NM_001164508.1:c.18786C>T, NM_001271208.1:c.18786C>T, NM_004543.3:c.13683C>T, NM_004543.4:c.13683C>T, XM_005246590.1:c.18786C>T, XM_005246591.1:c.18786C>T, XM_005246592.1:c.18786C>T, XM_005246593.1:c.18786C>T, XM_005246594.1:c.18786C>T, XM_005246595.1:c.18786C>T, XM_005246596.1:c.18786C>T, XM_005246597.1:c.18786C>T, XM_005246598.1:c.18786C>T, XM_005246599.1:c.18786C>T, XM_005246600.1:c.18786C>T, XM_005246601.1:c.18786C>T, XM_005246602.1:c.18786C>T, XM_005246603.1:c.18786C>T, XM_005246604.1:c.18786C>T, XM_005246605.1:c.18786C>T, XM_005246606.1:c.18786C>T, XM_005246607.1:c.18786C>T, XM_005246608.1:c.18786C>T, XM_005246609.1:c.18786C>T, XM_005246610.1:c.18786C>T, XM_005246611.1:c.18786C>T, XM_005246612.1:c.18057C>T, XM_005246613.1:c.18057C>T, XM_005246614.1:c.18786C>T, XM_005246615.1:c.18786C>T, XM_005246616.1:c.18786C>T, XM_005246617.1:c.15870C>T, XM_005246618.1:c.8880C>TVOUS04/06/2017
192NEBEx93NM_004543.4:c.13739A>Gp.Glu4580Gly | p.E4580GNM_001164507.1:c.18842A>G, NM_001164508.1:c.18842A>G, NM_001271208.1:c.18842A>G, NM_004543.3:c.13739A>G, NM_004543.4:c.13739A>G, XM_005246590.1:c.18842A>G, XM_005246591.1:c.18842A>G, XM_005246592.1:c.18842A>G, XM_005246593.1:c.18842A>G, XM_005246594.1:c.18842A>G, XM_005246595.1:c.18842A>G, XM_005246596.1:c.18842A>G, XM_005246597.1:c.18842A>G, XM_005246598.1:c.18842A>G, XM_005246599.1:c.18842A>G, XM_005246600.1:c.18842A>G, XM_005246601.1:c.18842A>G, XM_005246602.1:c.18842A>G, XM_005246603.1:c.18842A>G, XM_005246604.1:c.18842A>G, XM_005246605.1:c.18842A>G, XM_005246606.1:c.18842A>G, XM_005246607.1:c.18842A>G, XM_005246608.1:c.18842A>G, XM_005246609.1:c.18842A>G, XM_005246610.1:c.18842A>G, XM_005246611.1:c.18842A>G, XM_005246612.1:c.18113A>G, XM_005246613.1:c.18113A>G, XM_005246614.1:c.18842A>G, XM_005246615.1:c.18842A>G, XM_005246616.1:c.18842A>G, XM_005246617.1:c.15926A>G, XM_005246618.1:c.8936A>GVOUS10/14/2014
193NEBEx93NM_004543.4:c.13758C>Tp.Arg4586= | p.R4586=NM_001164507.1:c.18861C>T, NM_001164508.1:c.18861C>T, NM_001271208.1:c.18861C>T, NM_004543.3:c.13758C>T, NM_004543.4:c.13758C>T, XM_005246590.1:c.18861C>T, XM_005246591.1:c.18861C>T, XM_005246592.1:c.18861C>T, XM_005246593.1:c.18861C>T, XM_005246594.1:c.18861C>T, XM_005246595.1:c.18861C>T, XM_005246596.1:c.18861C>T, XM_005246597.1:c.18861C>T, XM_005246598.1:c.18861C>T, XM_005246599.1:c.18861C>T, XM_005246600.1:c.18861C>T, XM_005246601.1:c.18861C>T, XM_005246602.1:c.18861C>T, XM_005246603.1:c.18861C>T, XM_005246604.1:c.18861C>T, XM_005246605.1:c.18861C>T, XM_005246606.1:c.18861C>T, XM_005246607.1:c.18861C>T, XM_005246608.1:c.18861C>T, XM_005246609.1:c.18861C>T, XM_005246610.1:c.18861C>T, XM_005246611.1:c.18861C>T, XM_005246612.1:c.18132C>T, XM_005246613.1:c.18132C>T, XM_005246614.1:c.18861C>T, XM_005246615.1:c.18861C>T, XM_005246616.1:c.18861C>T, XM_005246617.1:c.15945C>T, XM_005246618.1:c.8955C>TBenign06/11/2015 
194NEBEx93NM_004543.4:c.13759_13769delGTCCGAAACGCNM_001164507.1:c.18862_18872delGTCCGAAACGC, NM_001164508.1:c.18862_18872delGTCCGAAACGC, NM_001271208.1:c.18862_18872delGTCCGAAACGC, NM_004543.3:c.13759_13769delGTCCGAAACGC, NM_004543.4:c.13759_13769delGTCCGAAACGC, XM_005246590.1:c.18862_18872delGTCCGAAACGC, XM_005246591.1:c.18862_18872delGTCCGAAACGC, XM_005246592.1:c.18862_18872delGTCCGAAACGC, XM_005246593.1:c.18862_18872delGTCCGAAACGC, XM_005246594.1:c.18862_18872delGTCCGAAACGC, XM_005246595.1:c.18862_18872delGTCCGAAACGC, XM_005246596.1:c.18862_18872delGTCCGAAACGC, XM_005246597.1:c.18862_18872delGTCCGAAACGC, XM_005246598.1:c.18862_18872delGTCCGAAACGC, XM_005246599.1:c.18862_18872delGTCCGAAACGC, XM_005246600.1:c.18862_18872delGTCCGAAACGC, XM_005246601.1:c.18862_18872delGTCCGAAACGC, XM_005246602.1:c.18862_18872delGTCCGAAACGC, XM_005246603.1:c.18862_18872delGTCCGAAACGC, XM_005246604.1:c.18862_18872delGTCCGAAACGC, XM_005246605.1:c.18862_18872delGTCCGAAACGC, XM_005246606.1:c.18862_18872delGTCCGAAACGC, XM_005246607.1:c.18862_18872delGTCCGPathogenic06/11/2015 
195NEBEx93NM_004543.4:c.13759G>Ap.Val4587Ile | p.V4587INM_001164507.1:c.18862G>A, NM_001164508.1:c.18862G>A, NM_001271208.1:c.18862G>A, NM_004543.3:c.13759G>A, NM_004543.4:c.13759G>A, XM_005246590.1:c.18862G>A, XM_005246591.1:c.18862G>A, XM_005246592.1:c.18862G>A, XM_005246593.1:c.18862G>A, XM_005246594.1:c.18862G>A, XM_005246595.1:c.18862G>A, XM_005246596.1:c.18862G>A, XM_005246597.1:c.18862G>A, XM_005246598.1:c.18862G>A, XM_005246599.1:c.18862G>A, XM_005246600.1:c.18862G>A, XM_005246601.1:c.18862G>A, XM_005246602.1:c.18862G>A, XM_005246603.1:c.18862G>A, XM_005246604.1:c.18862G>A, XM_005246605.1:c.18862G>A, XM_005246606.1:c.18862G>A, XM_005246607.1:c.18862G>A, XM_005246608.1:c.18862G>A, XM_005246609.1:c.18862G>A, XM_005246610.1:c.18862G>A, XM_005246611.1:c.18862G>A, XM_005246612.1:c.18133G>A, XM_005246613.1:c.18133G>A, XM_005246614.1:c.18862G>A, XM_005246615.1:c.18862G>A, XM_005246616.1:c.18862G>A, XM_005246617.1:c.15946G>A, XM_005246618.1:c.8956G>AVOUS02/09/2015
196NEBEx93NM_004543.4:c.13788+1G>ALRG_202t1:c.18891+1G>A, NM_001164507.1:c.18891+1G>A, NM_001164508.1:c.18891+1G>A, NM_001271208.1:c.18891+1G>A, NM_004543.3:c.13788+1G>A, NM_004543.4:c.13788+1G>A, XM_005246590.1:c.18891+1G>A, XM_005246591.1:c.18891+1G>A, XM_005246592.1:c.18891+1G>A, XM_005246593.1:c.18891+1G>A, XM_005246594.1:c.18891+1G>A, XM_005246595.1:c.18891+1G>A, XM_005246596.1:c.18891+1G>A, XM_005246597.1:c.18891+1G>A, XM_005246598.1:c.18891+1G>A, XM_005246599.1:c.18891+1G>A, XM_005246600.1:c.18891+1G>A, XM_005246601.1:c.18891+1G>A, XM_005246602.1:c.18891+1G>A, XM_005246603.1:c.18891+1G>A, XM_005246604.1:c.18891+1G>A, XM_005246605.1:c.18891+1G>A, XM_005246606.1:c.18891+1G>A, XM_005246607.1:c.18891+1G>A, XM_005246608.1:c.18891+1G>A, XM_005246609.1:c.18891+1G>A, XM_005246610.1:c.18891+1G>A, XM_005246611.1:c.18891+1G>A, XM_005246612.1:c.18162+1G>A, XM_005246613.1:c.18162+1G>A, XM_005246614.1:c.18891+1G>A, XM_005246615.1:c.18891+1G>A, XM_005246616.1:c.18891+1G>A, XM_005246617.1:c.15975+1G>A, XM_005246618.1:c.8985+1Likely pathogenic01/25/2018 
197NEBEx95NM_004543.4:c.13953G>Tp.Thr4651= | p.T4651=NM_001164507.1:c.19056G>T, NM_001164508.1:c.19056G>T, NM_001271208.1:c.19056G>T, NM_004543.3:c.13953G>T, NM_004543.4:c.13953G>TBenign01/23/2014 
198NEBEx97NM_004543.4:c.14182_14183delGCinsAANM_001164507.1:c.19285_19286delinsAA, NM_001164508.1:c.19285_19286delinsAA, NM_001271208.1:c.19285_19286delinsAA, NM_004543.3:c.14182_14183delinsAA, NM_004543.4:c.14182_14183delinsAA, XM_005246590.1:c.19285_19286delinsAA, XM_005246591.1:c.19285_19286delinsAA, XM_005246592.1:c.19285_19286delinsAA, XM_005246593.1:c.19285_19286delinsAA, XM_005246594.1:c.19285_19286delinsAA, XM_005246595.1:c.19285_19286delinsAA, XM_005246596.1:c.19285_19286delinsAA, XM_005246597.1:c.19285_19286delinsAA, XM_005246598.1:c.19285_19286delinsAA, XM_005246599.1:c.19285_19286delinsAA, XM_005246600.1:c.19285_19286delinsAA, XM_005246601.1:c.19285_19286delinsAA, XM_005246602.1:c.19285_19286delinsAA, XM_005246603.1:c.19285_19286delinsAA, XM_005246604.1:c.19285_19286delinsAA, XM_005246605.1:c.19285_19286delinsAA, XM_005246606.1:c.19285_19286delinsAA, XM_005246607.1:c.19285_19286delinsAA, XM_005246608.1:c.19285_19286delinsAA, XM_005246609.1:c.19285_19286delinsAA, XM_005246610.1:c.19285_19286delinsAA, XM_005246611.1:cBenign02/16/2015 
199NEBEx97NM_004543.4:c.14182G>Ap.Ala4728Thr | p.A4728TNM_001164507.1:c.19285G>A, NM_001164508.1:c.19285G>A, NM_001271208.1:c.19285G>A, NM_004543.3:c.14182G>A, NM_004543.4:c.14182G>ABenign10/13/2015 
200NEBEx97NM_004543.4:c.14183C>Ap.Ala4728Asp | p.A4728DNM_001164507.1:c.19286C>A, NM_001164508.1:c.19286C>A, NM_001271208.1:c.19286C>A, NM_004543.3:c.14183C>A, NM_004543.4:c.14183C>ABenign10/13/2015 
201NEBEx97NM_004543.4:c.14192A>Gp.Gln4731Arg | p.Q4731RLRG_202t1:c.19295A>G, NM_001164507.1:c.19295A>G, NM_001164508.1:c.19295A>G, NM_001271208.1:c.19295A>G, NM_004543.3:c.14192A>G, NM_004543.4:c.14192A>G, XM_005246590.1:c.19295A>G, XM_005246591.1:c.19295A>G, XM_005246592.1:c.19295A>G, XM_005246593.1:c.19295A>G, XM_005246594.1:c.19295A>G, XM_005246595.1:c.19295A>G, XM_005246596.1:c.19295A>G, XM_005246597.1:c.19295A>G, XM_005246598.1:c.19295A>G, XM_005246599.1:c.19295A>G, XM_005246600.1:c.19295A>G, XM_005246601.1:c.19295A>G, XM_005246602.1:c.19295A>G, XM_005246603.1:c.19295A>G, XM_005246604.1:c.19295A>G, XM_005246605.1:c.19295A>G, XM_005246606.1:c.19295A>G, XM_005246607.1:c.19295A>G, XM_005246608.1:c.19295A>G, XM_005246609.1:c.19295A>G, XM_005246610.1:c.19295A>G, XM_005246611.1:c.19295A>G, XM_005246612.1:c.18566A>G, XM_005246613.1:c.18566A>G, XM_005246614.1:c.19295A>G, XM_005246615.1:c.19295A>G, XM_005246616.1:c.19295A>G, XM_005246617.1:c.16379A>G, XM_005246618.1:c.9389A>GLikely benign04/27/2016 
202NEBEx98NM_004543.4:c.14260C>Tp.Pro4754Ser | p.P4754SLRG_202t1:c.19363C>T, NM_001164507.1:c.19363C>T, NM_001164508.1:c.19363C>T, NM_001271208.1:c.19363C>T, NM_004543.3:c.14260C>T, NM_004543.4:c.14260C>T, XM_005246590.1:c.19363C>T, XM_005246591.1:c.19363C>T, XM_005246592.1:c.19363C>T, XM_005246593.1:c.19363C>T, XM_005246594.1:c.19363C>T, XM_005246595.1:c.19363C>T, XM_005246596.1:c.19363C>T, XM_005246597.1:c.19363C>T, XM_005246598.1:c.19363C>T, XM_005246599.1:c.19363C>T, XM_005246600.1:c.19363C>T, XM_005246601.1:c.19363C>T, XM_005246602.1:c.19363C>T, XM_005246603.1:c.19363C>T, XM_005246604.1:c.19363C>T, XM_005246605.1:c.19363C>T, XM_005246606.1:c.19363C>T, XM_005246607.1:c.19363C>T, XM_005246608.1:c.19363C>T, XM_005246609.1:c.19363C>T, XM_005246610.1:c.19363C>T, XM_005246611.1:c.19363C>T, XM_005246612.1:c.18634C>T, XM_005246613.1:c.18634C>T, XM_005246614.1:c.19363C>T, XM_005246615.1:c.19363C>T, XM_005246616.1:c.19363C>T, XM_005246617.1:c.16447C>T, XM_005246618.1:c.9457C>TVOUS06/21/2016
203NEBEx99NM_004543.4:c.14352G>Ap.Lys4784= | p.K4784=NM_001164507.1:c.19455G>A, NM_001164508.1:c.19455G>A, NM_001271208.1:c.19455G>A, NM_004543.3:c.14352G>A, NM_004543.4:c.14352G>ABenign10/03/2013 
204NEBEx99NM_004543.4:c.14441G>Ap.Arg4814His | p.R4814HNM_001164507.1:c.19544G>A, NM_001164508.1:c.19544G>A, NM_001271208.1:c.19544G>A, NM_004543.3:c.14441G>A, NM_004543.4:c.14441G>A, XM_005246590.1:c.19544G>A, XM_005246591.1:c.19544G>A, XM_005246592.1:c.19544G>A, XM_005246593.1:c.19544G>A, XM_005246594.1:c.19544G>A, XM_005246595.1:c.19544G>A, XM_005246596.1:c.19544G>A, XM_005246597.1:c.19544G>A, XM_005246598.1:c.19544G>A, XM_005246599.1:c.19544G>A, XM_005246600.1:c.19544G>A, XM_005246601.1:c.19544G>A, XM_005246602.1:c.19544G>A, XM_005246603.1:c.19544G>A, XM_005246604.1:c.19544G>A, XM_005246605.1:c.19544G>A, XM_005246606.1:c.19544G>A, XM_005246607.1:c.19544G>A, XM_005246608.1:c.19544G>A, XM_005246609.1:c.19544G>A, XM_005246610.1:c.19544G>A, XM_005246611.1:c.19544G>A, XM_005246612.1:c.18815G>A, XM_005246613.1:c.18815G>A, XM_005246614.1:c.19544G>A, XM_005246615.1:c.19544G>A, XM_005246616.1:c.19544G>A, XM_005246617.1:c.16628G>A, XM_005246618.1:c.9638G>AVOUS02/27/2015
205NEBEx99NM_004543.4:c.14523T>Cp.Asp4841= | p.D4841=NM_001164507.1:c.19626T>C, NM_001164508.1:c.19626T>C, NM_001271208.1:c.19626T>C, NM_004543.3:c.14523T>C, NM_004543.4:c.14523T>CVOUS06/10/2015
206NEBEx102NM_004543.4:c.14841G>Ap.Ser4947= | p.S4947=LRG_202t1:c.19944G>A, NM_001164507.1:c.19944G>A, NM_001164508.1:c.19944G>A, NM_001271208.1:c.19944G>A, NM_004543.3:c.14841G>A, NM_004543.4:c.14841G>A, XM_005246590.1:c.19944G>A, XM_005246591.1:c.19944G>A, XM_005246592.1:c.19944G>A, XM_005246593.1:c.19944G>A, XM_005246594.1:c.19944G>A, XM_005246595.1:c.19944G>A, XM_005246596.1:c.19944G>A, XM_005246597.1:c.19944G>A, XM_005246598.1:c.19944G>A, XM_005246599.1:c.19944G>A, XM_005246600.1:c.19944G>A, XM_005246601.1:c.19944G>A, XM_005246602.1:c.19944G>A, XM_005246603.1:c.19944G>A, XM_005246604.1:c.19944G>A, XM_005246605.1:c.19944G>A, XM_005246606.1:c.19944G>A, XM_005246607.1:c.19944G>A, XM_005246608.1:c.19944G>A, XM_005246609.1:c.19944G>A, XM_005246610.1:c.19944G>A, XM_005246611.1:c.19944G>A, XM_005246612.1:c.19215G>A, XM_005246613.1:c.19215G>A, XM_005246614.1:c.19944G>A, XM_005246615.1:c.19944G>A, XM_005246616.1:c.19944G>A, XM_005246617.1:c.17028G>A, XM_005246618.1:c.10038G>AVOUS02/24/2017
207NEBEx103NM_004543.4:c.14863C>Tp.Arg4955Cys | p.R4955CLRG_202t1:c.19966C>T, NM_001164507.1:c.19966C>T, NM_001164508.1:c.19966C>T, NM_001271208.1:c.19966C>T, NM_004543.3:c.14863C>T, NM_004543.4:c.14863C>T, XM_005246590.1:c.19966C>T, XM_005246591.1:c.19966C>T, XM_005246592.1:c.19966C>T, XM_005246593.1:c.19966C>T, XM_005246594.1:c.19966C>T, XM_005246595.1:c.19966C>T, XM_005246596.1:c.19966C>T, XM_005246597.1:c.19966C>T, XM_005246598.1:c.19966C>T, XM_005246599.1:c.19966C>T, XM_005246600.1:c.19966C>T, XM_005246601.1:c.19966C>T, XM_005246602.1:c.19966C>T, XM_005246603.1:c.19966C>T, XM_005246604.1:c.19966C>T, XM_005246605.1:c.19966C>T, XM_005246606.1:c.19966C>T, XM_005246607.1:c.19966C>T, XM_005246608.1:c.19966C>T, XM_005246609.1:c.19966C>T, XM_005246610.1:c.19966C>T, XM_005246611.1:c.19966C>T, XM_005246612.1:c.19237C>T, XM_005246613.1:c.19237C>T, XM_005246614.1:c.19966C>T, XM_005246615.1:c.19966C>T, XM_005246616.1:c.19966C>T, XM_005246617.1:c.17050C>T, XM_005246618.1:c.10060C>TVOUS03/02/2016
208NEBEx103NM_004543.4:c.14929C>Tp.Arg4977Cys | p.R4977CLRG_202t1:c.20032C>T, NM_001164507.1:c.20032C>T, NM_001164508.1:c.20032C>T, NM_001271208.1:c.20032C>T, NM_004543.3:c.14929C>T, NM_004543.4:c.14929C>T, XM_005246590.1:c.20032C>T, XM_005246591.1:c.20032C>T, XM_005246592.1:c.20032C>T, XM_005246593.1:c.20032C>T, XM_005246594.1:c.20032C>T, XM_005246595.1:c.20032C>T, XM_005246596.1:c.20032C>T, XM_005246597.1:c.20032C>T, XM_005246598.1:c.20032C>T, XM_005246599.1:c.20032C>T, XM_005246600.1:c.20032C>T, XM_005246601.1:c.20032C>T, XM_005246602.1:c.20032C>T, XM_005246603.1:c.20032C>T, XM_005246604.1:c.20032C>T, XM_005246605.1:c.20032C>T, XM_005246606.1:c.20032C>T, XM_005246607.1:c.20032C>T, XM_005246608.1:c.20032C>T, XM_005246609.1:c.20032C>T, XM_005246610.1:c.20032C>T, XM_005246611.1:c.20032C>T, XM_005246612.1:c.19303C>T, XM_005246613.1:c.19303C>T, XM_005246614.1:c.20032C>T, XM_005246615.1:c.20032C>T, XM_005246616.1:c.20032C>T, XM_005246617.1:c.17116C>T, XM_005246618.1:c.10126C>TBenign11/18/2018 
209NEBEx104NM_004543.4:c.14975C>Tp.Thr4992Ile | p.T4992ILRG_202t1:c.20078C>T, NM_001164507.1:c.20078C>T, NM_001164508.1:c.20078C>T, NM_001271208.1:c.20078C>T, NM_004543.3:c.14975C>T, NM_004543.4:c.14975C>T, XM_005246590.1:c.20078C>T, XM_005246591.1:c.20078C>T, XM_005246592.1:c.20078C>T, XM_005246593.1:c.20078C>T, XM_005246594.1:c.20078C>T, XM_005246595.1:c.20078C>T, XM_005246596.1:c.20078C>T, XM_005246597.1:c.20078C>T, XM_005246598.1:c.20078C>T, XM_005246599.1:c.20078C>T, XM_005246600.1:c.20078C>T, XM_005246601.1:c.20078C>T, XM_005246602.1:c.20078C>T, XM_005246603.1:c.20078C>T, XM_005246604.1:c.20078C>T, XM_005246605.1:c.20078C>T, XM_005246606.1:c.20078C>T, XM_005246607.1:c.20078C>T, XM_005246608.1:c.20078C>T, XM_005246609.1:c.20078C>T, XM_005246610.1:c.20078C>T, XM_005246611.1:c.20078C>T, XM_005246612.1:c.19349C>T, XM_005246613.1:c.19349C>T, XM_005246614.1:c.20078C>T, XM_005246615.1:c.20078C>T, XM_005246616.1:c.20078C>T, XM_005246617.1:c.17162C>T, XM_005246618.1:c.10172C>TBenign06/02/2016 
210NEBEx106NM_004543.4:c.15193G>Tp.Gly5065Cys | p.G5065CNM_001164507.1:c.20296G>T, NM_001164508.1:c.20296G>T, NM_001271208.1:c.20296G>T, NM_004543.3:c.15193G>T, NM_004543.4:c.15193G>T, XM_005246590.1:c.20296G>T, XM_005246591.1:c.20296G>T, XM_005246592.1:c.20296G>T, XM_005246593.1:c.20296G>T, XM_005246594.1:c.20296G>T, XM_005246595.1:c.20296G>T, XM_005246596.1:c.20296G>T, XM_005246597.1:c.20296G>T, XM_005246598.1:c.20296G>T, XM_005246599.1:c.20296G>T, XM_005246600.1:c.20296G>T, XM_005246601.1:c.20296G>T, XM_005246602.1:c.20296G>T, XM_005246603.1:c.20296G>T, XM_005246604.1:c.20296G>T, XM_005246605.1:c.20296G>T, XM_005246606.1:c.20296G>T, XM_005246607.1:c.20296G>T, XM_005246608.1:c.20296G>T, XM_005246609.1:c.20296G>T, XM_005246610.1:c.20296G>T, XM_005246611.1:c.20296G>T, XM_005246612.1:c.19567G>T, XM_005246613.1:c.19567G>T, XM_005246614.1:c.20296G>T, XM_005246615.1:c.20296G>T, XM_005246616.1:c.20296G>T, XM_005246617.1:c.17380G>T, XM_005246618.1:c.10390G>TVOUS06/11/2015
211NEBEx106NM_004543.4:c.15229A>Gp.Ile5077Val | p.I5077VLRG_202t1:c.20332A>G, NM_001164507.1:c.20332A>G, NM_001164508.1:c.20332A>G, NM_001271208.1:c.20332A>G, NM_004543.3:c.15229A>G, NM_004543.4:c.15229A>G, XM_005246590.1:c.20332A>G, XM_005246591.1:c.20332A>G, XM_005246592.1:c.20332A>G, XM_005246593.1:c.20332A>G, XM_005246594.1:c.20332A>G, XM_005246595.1:c.20332A>G, XM_005246596.1:c.20332A>G, XM_005246597.1:c.20332A>G, XM_005246598.1:c.20332A>G, XM_005246599.1:c.20332A>G, XM_005246600.1:c.20332A>G, XM_005246601.1:c.20332A>G, XM_005246602.1:c.20332A>G, XM_005246603.1:c.20332A>G, XM_005246604.1:c.20332A>G, XM_005246605.1:c.20332A>G, XM_005246606.1:c.20332A>G, XM_005246607.1:c.20332A>G, XM_005246608.1:c.20332A>G, XM_005246609.1:c.20332A>G, XM_005246610.1:c.20332A>G, XM_005246611.1:c.20332A>G, XM_005246612.1:c.19603A>G, XM_005246613.1:c.19603A>G, XM_005246614.1:c.20332A>G, XM_005246615.1:c.20332A>G, XM_005246616.1:c.20332A>G, XM_005246617.1:c.17416A>G, XM_005246618.1:c.10426A>GVOUS01/04/2017
212NEBEx107NM_004543.4:c.15298G>Tp.Gly5100* | p.G5100XLRG_202t1:c.20401G>T, NM_001164507.1:c.20401G>T, NM_001164508.1:c.20401G>T, NM_001271208.1:c.20401G>T, NM_004543.3:c.15298G>T, NM_004543.4:c.15298G>T, XM_005246590.1:c.20401G>T, XM_005246591.1:c.20401G>T, XM_005246592.1:c.20401G>T, XM_005246593.1:c.20401G>T, XM_005246594.1:c.20401G>T, XM_005246595.1:c.20401G>T, XM_005246596.1:c.20401G>T, XM_005246597.1:c.20401G>T, XM_005246598.1:c.20401G>T, XM_005246599.1:c.20401G>T, XM_005246600.1:c.20401G>T, XM_005246601.1:c.20401G>T, XM_005246602.1:c.20401G>T, XM_005246603.1:c.20401G>T, XM_005246604.1:c.20401G>T, XM_005246605.1:c.20401G>T, XM_005246606.1:c.20401G>T, XM_005246607.1:c.20401G>T, XM_005246608.1:c.20401G>T, XM_005246609.1:c.20401G>T, XM_005246610.1:c.20401G>T, XM_005246611.1:c.20401G>T, XM_005246612.1:c.19672G>T, XM_005246613.1:c.19672G>T, XM_005246614.1:c.20401G>T, XM_005246615.1:c.20401G>T, XM_005246616.1:c.20401G>T, XM_005246617.1:c.17485G>T, XM_005246618.1:c.10495G>TPathogenic03/07/2019 
213NEBEx108NM_004543.4:c.15364-5_15364-4insANM_001164507.1:c.20467-5_20467-4insA, NM_001164508.1:c.20467-5_20467-4insA, NM_001271208.1:c.20467-5_20467-4insA, NM_004543.3:c.15364-5_15364-4insA, NM_004543.4:c.15364-5_15364-4insA, XM_005246590.1:c.20467-5_20467-4insA, XM_005246591.1:c.20467-5_20467-4insA, XM_005246592.1:c.20467-5_20467-4insA, XM_005246593.1:c.20467-5_20467-4insA, XM_005246594.1:c.20467-5_20467-4insA, XM_005246595.1:c.20467-5_20467-4insA, XM_005246596.1:c.20467-5_20467-4insA, XM_005246597.1:c.20467-5_20467-4insA, XM_005246598.1:c.20467-5_20467-4insA, XM_005246599.1:c.20467-5_20467-4insA, XM_005246600.1:c.20467-5_20467-4insA, XM_005246601.1:c.20467-5_20467-4insA, XM_005246602.1:c.20467-5_20467-4insA, XM_005246603.1:c.20467-5_20467-4insA, XM_005246604.1:c.20467-5_20467-4insA, XM_005246605.1:c.20467-5_20467-4insA, XM_005246606.1:c.20467-5_20467-4insA, XM_005246607.1:c.20467-5_20467-4insA, XM_005246608.1:c.20467-5_20467-4insA, XM_005246609.1:c.20467-5_20467-4insA, XM_005246610.1:c.20467-5_20467-4insA, XM_005246611.1:cLikely benign07/14/2015 
214NEBEx108NM_004543.4:c.15364-4delTNM_001164507.1:c.20467-4delT, NM_001164508.1:c.20467-4delT, NM_001271208.1:c.20467-4delT, NM_004543.3:c.15364-4delT, NM_004543.4:c.15364-4delT, XM_005246590.1:c.20467-4delT, XM_005246591.1:c.20467-4delT, XM_005246592.1:c.20467-4delT, XM_005246593.1:c.20467-4delT, XM_005246594.1:c.20467-4delT, XM_005246595.1:c.20467-4delT, XM_005246596.1:c.20467-4delT, XM_005246597.1:c.20467-4delT, XM_005246598.1:c.20467-4delT, XM_005246599.1:c.20467-4delT, XM_005246600.1:c.20467-4delT, XM_005246601.1:c.20467-4delT, XM_005246602.1:c.20467-4delT, XM_005246603.1:c.20467-4delT, XM_005246604.1:c.20467-4delT, XM_005246605.1:c.20467-4delT, XM_005246606.1:c.20467-4delT, XM_005246607.1:c.20467-4delT, XM_005246608.1:c.20467-4delT, XM_005246609.1:c.20467-4delT, XM_005246610.1:c.20467-4delT, XM_005246611.1:c.20467-4delT, XM_005246612.1:c.19738-4delT, XM_005246613.1:c.19738-4delT, XM_005246614.1:c.20467-4delT, XM_005246615.1:c.20467-4delT, XM_005246616.1:c.20467-4delT, XM_005246617.1:c.17551-4delT, XM_005246618.1Likely benign01/06/2015 
215NEBEx108NM_004543.4:c.15364-4T>ANM_001164507.1:c.20467-4T>A, NM_001164508.1:c.20467-4T>A, NM_001271208.1:c.20467-4T>A, NM_004543.3:c.15364-4T>A, NM_004543.4:c.15364-4T>A, XM_005246590.1:c.20467-4T>A, XM_005246591.1:c.20467-4T>A, XM_005246592.1:c.20467-4T>A, XM_005246593.1:c.20467-4T>A, XM_005246594.1:c.20467-4T>A, XM_005246595.1:c.20467-4T>A, XM_005246596.1:c.20467-4T>A, XM_005246597.1:c.20467-4T>A, XM_005246598.1:c.20467-4T>A, XM_005246599.1:c.20467-4T>A, XM_005246600.1:c.20467-4T>A, XM_005246601.1:c.20467-4T>A, XM_005246602.1:c.20467-4T>A, XM_005246603.1:c.20467-4T>A, XM_005246604.1:c.20467-4T>A, XM_005246605.1:c.20467-4T>A, XM_005246606.1:c.20467-4T>A, XM_005246607.1:c.20467-4T>A, XM_005246608.1:c.20467-4T>A, XM_005246609.1:c.20467-4T>A, XM_005246610.1:c.20467-4T>A, XM_005246611.1:c.20467-4T>A, XM_005246612.1:c.19738-4T>A, XM_005246613.1:c.19738-4T>A, XM_005246614.1:c.20467-4T>A, XM_005246615.1:c.20467-4T>A, XM_005246617.1:c.17551-4T>A, XM_005246618.1:c.10561-4T>ABenign04/10/2017 
216NEBEx108NM_004543.4:c.15474+6G>ANM_001164507.1:c.20577+6G>A, NM_001164508.1:c.20577+6G>A, NM_001271208.1:c.20577+6G>A, NM_004543.3:c.15474+6G>A, NM_004543.4:c.15474+6G>A, XM_005246590.1:c.20577+6G>A, XM_005246591.1:c.20577+6G>A, XM_005246592.1:c.20577+6G>A, XM_005246593.1:c.20577+6G>A, XM_005246594.1:c.20577+6G>A, XM_005246595.1:c.20577+6G>A, XM_005246596.1:c.20577+6G>A, XM_005246597.1:c.20577+6G>A, XM_005246598.1:c.20577+6G>A, XM_005246599.1:c.20577+6G>A, XM_005246600.1:c.20577+6G>A, XM_005246601.1:c.20577+6G>A, XM_005246602.1:c.20577+6G>A, XM_005246603.1:c.20577+6G>A, XM_005246604.1:c.20577+6G>A, XM_005246605.1:c.20577+6G>A, XM_005246606.1:c.20577+6G>A, XM_005246607.1:c.20577+6G>A, XM_005246608.1:c.20577+6G>A, XM_005246609.1:c.20577+6G>A, XM_005246610.1:c.20577+6G>A, XM_005246611.1:c.20577+6G>A, XM_005246612.1:c.19848+6G>A, XM_005246613.1:c.19848+6G>A, XM_005246614.1:c.20577+6G>A, XM_005246615.1:c.20577+6G>A, XM_005246616.1:c.20577+6G>A, XM_005246617.1:c.17661+6G>A, XM_005246618.1:c.10671+6G>AVOUS11/21/2014
217NEBEx109NM_004543.4:c.15551C>Tp.Ala5184Val | p.A5184VNM_001164507.1:c.20654C>T, NM_001164508.1:c.20654C>T, NM_001271208.1:c.20654C>T, NM_004543.3:c.15551C>T, NM_004543.4:c.15551C>T, XM_005246590.1:c.20654C>T, XM_005246591.1:c.20654C>T, XM_005246592.1:c.20654C>T, XM_005246593.1:c.20654C>T, XM_005246594.1:c.20654C>T, XM_005246595.1:c.20654C>T, XM_005246596.1:c.20654C>T, XM_005246597.1:c.20654C>T, XM_005246598.1:c.20654C>T, XM_005246599.1:c.20654C>T, XM_005246600.1:c.20654C>T, XM_005246601.1:c.20654C>T, XM_005246602.1:c.20654C>T, XM_005246603.1:c.20654C>T, XM_005246604.1:c.20654C>T, XM_005246605.1:c.20654C>T, XM_005246606.1:c.20654C>T, XM_005246607.1:c.20654C>T, XM_005246608.1:c.20654C>T, XM_005246609.1:c.20654C>T, XM_005246610.1:c.20654C>T, XM_005246611.1:c.20654C>T, XM_005246612.1:c.19925C>T, XM_005246613.1:c.19925C>T, XM_005246614.1:c.20654C>T, XM_005246615.1:c.20654C>T, XM_005246616.1:c.20654C>T, XM_005246617.1:c.17738C>T, XM_005246618.1:c.10748C>TVOUS06/22/2015
218NEBEx109NM_004543.4:c.15568C>Tp.Leu5190Phe | p.L5190FNM_001164507.1:c.20671C>T, NM_001164508.1:c.20671C>T, NM_001271208.1:c.20671C>T, NM_004543.3:c.15568C>T, NM_004543.4:c.15568C>T, XM_005246590.1:c.20671C>T, XM_005246591.1:c.20671C>T, XM_005246592.1:c.20671C>T, XM_005246593.1:c.20671C>T, XM_005246594.1:c.20671C>T, XM_005246595.1:c.20671C>T, XM_005246596.1:c.20671C>T, XM_005246597.1:c.20671C>T, XM_005246598.1:c.20671C>T, XM_005246599.1:c.20671C>T, XM_005246600.1:c.20671C>T, XM_005246601.1:c.20671C>T, XM_005246602.1:c.20671C>T, XM_005246603.1:c.20671C>T, XM_005246604.1:c.20671C>T, XM_005246605.1:c.20671C>T, XM_005246606.1:c.20671C>T, XM_005246607.1:c.20671C>T, XM_005246608.1:c.20671C>T, XM_005246609.1:c.20671C>T, XM_005246610.1:c.20671C>T, XM_005246611.1:c.20671C>T, XM_005246612.1:c.19942C>T, XM_005246613.1:c.19942C>T, XM_005246614.1:c.20671C>T, XM_005246615.1:c.20671C>T, XM_005246616.1:c.20671C>T, XM_005246617.1:c.17755C>T, XM_005246618.1:c.10765C>TVOUS04/15/2015
219NEBEx115NM_004543.4:c.16126G>Ap.Glu5376Lys | p.E5376KNM_001164507.1:c.21229G>A, NM_001164508.1:c.21229G>A, NM_001271208.1:c.21229G>A, NM_004543.3:c.16126G>A, NM_004543.4:c.16126G>A, XM_005246590.1:c.21229G>A, XM_005246591.1:c.21229G>A, XM_005246592.1:c.21229G>A, XM_005246593.1:c.21229G>A, XM_005246594.1:c.21229G>A, XM_005246595.1:c.21229G>A, XM_005246596.1:c.21229G>A, XM_005246597.1:c.21229G>A, XM_005246598.1:c.21229G>A, XM_005246599.1:c.21229G>A, XM_005246600.1:c.21229G>A, XM_005246601.1:c.21229G>A, XM_005246602.1:c.21229G>A, XM_005246603.1:c.21229G>A, XM_005246604.1:c.21229G>A, XM_005246605.1:c.21229G>A, XM_005246606.1:c.21229G>A, XM_005246607.1:c.21229G>A, XM_005246608.1:c.21229G>A, XM_005246609.1:c.21229G>A, XM_005246610.1:c.21229G>A, XM_005246611.1:c.21229G>A, XM_005246612.1:c.20500G>A, XM_005246613.1:c.20500G>A, XM_005246614.1:c.21229G>A, XM_005246615.1:c.21229G>A, XM_005246616.1:c.21229G>A, XM_005246617.1:c.18313G>A, XM_005246618.1:c.11323G>AVOUS08/30/2015
220NEBEx117NM_004543.4:c.16315-6delANM_001164507.1:c.21418-6delA, NM_001164508.1:c.21418-6delA, NM_001271208.1:c.21523-6delA, NM_004543.3:c.16315-6delA, NM_004543.4:c.16315-6delA, XM_005246590.1:c.21418-6delA, XM_005246591.1:c.21418-6delA, XM_005246592.1:c.21418-6delA, XM_005246593.1:c.21418-6delA, XM_005246594.1:c.21418-6delA, XM_005246595.1:c.21418-6delA, XM_005246596.1:c.21418-6delA, XM_005246597.1:c.21418-6delA, XM_005246598.1:c.21418-6delA, XM_005246599.1:c.21418-6delA, XM_005246600.1:c.21418-6delA, XM_005246601.1:c.21418-6delA, XM_005246602.1:c.21418-6delA, XM_005246603.1:c.21418-6delA, XM_005246604.1:c.21418-6delA, XM_005246605.1:c.21418-6delA, XM_005246606.1:c.21418-6delA, XM_005246607.1:c.21418-6delA, XM_005246608.1:c.21418-6delA, XM_005246609.1:c.21418-6delA, XM_005246610.1:c.21418-6delA, XM_005246611.1:c.21418-6delA, XM_005246612.1:c.20689-6delA, XM_005246613.1:c.20689-6delA, XM_005246614.1:c.21418-6delA, XM_005246615.1:c.21418-6delA, XM_005246616.1:c.21418-6delA, XM_005246617.1:c.18502-6delA, XM_005246618.1Benign04/05/2013 
221NEBEx117NM_004543.4:c.16383C>Tp.His5461= | p.H5461=LRG_202t1:c.21591C>T, NM_001164507.1:c.21486C>T, NM_001164508.1:c.21486C>T, NM_001271208.1:c.21591C>T, NM_004543.3:c.16383C>T, NM_004543.4:c.16383C>T, XM_005246590.1:c.21486C>T, XM_005246591.1:c.21486C>T, XM_005246592.1:c.21486C>T, XM_005246593.1:c.21486C>T, XM_005246594.1:c.21486C>T, XM_005246595.1:c.21486C>T, XM_005246596.1:c.21486C>T, XM_005246597.1:c.21486C>T, XM_005246598.1:c.21486C>T, XM_005246599.1:c.21486C>T, XM_005246600.1:c.21486C>T, XM_005246601.1:c.21486C>T, XM_005246602.1:c.21486C>T, XM_005246603.1:c.21486C>T, XM_005246604.1:c.21486C>T, XM_005246605.1:c.21486C>T, XM_005246606.1:c.21486C>T, XM_005246607.1:c.21486C>T, XM_005246608.1:c.21486C>T, XM_005246609.1:c.21486C>T, XM_005246610.1:c.21486C>T, XM_005246611.1:c.21486C>T, XM_005246612.1:c.20757C>T, XM_005246613.1:c.20757C>T, XM_005246614.1:c.21486C>T, XM_005246615.1:c.21486C>T, XM_005246616.1:c.21486C>T, XM_005246617.1:c.18570C>T, XM_005246618.1:c.11580C>TVOUS06/10/2016
222NEBEx118NM_004543.4:c.16443C>Tp.Asn5481= | p.N5481=NM_001164507.1:c.21546C>T, NM_001164508.1:c.21546C>T, NM_001271208.1:c.21651C>T, NM_004543.3:c.16443C>T, NM_004543.4:c.16443C>TBenign06/18/2013 
223NEBEx118NM_004543.4:c.16463A>Tp.Tyr5488Phe | p.Y5488FNM_001164507.1:c.21566A>T, NM_001164508.1:c.21566A>T, NM_001271208.1:c.21671A>T, NM_004543.3:c.16463A>T, NM_004543.4:c.16463A>T, XM_005246590.1:c.21566A>T, XM_005246591.1:c.21566A>T, XM_005246592.1:c.21566A>T, XM_005246593.1:c.21566A>T, XM_005246594.1:c.21566A>T, XM_005246595.1:c.21566A>T, XM_005246596.1:c.21566A>T, XM_005246597.1:c.21566A>T, XM_005246598.1:c.21566A>T, XM_005246599.1:c.21566A>T, XM_005246600.1:c.21566A>T, XM_005246601.1:c.21566A>T, XM_005246602.1:c.21566A>T, XM_005246603.1:c.21566A>T, XM_005246604.1:c.21566A>T, XM_005246605.1:c.21566A>T, XM_005246606.1:c.21566A>T, XM_005246607.1:c.21566A>T, XM_005246608.1:c.21566A>T, XM_005246609.1:c.21566A>T, XM_005246610.1:c.21566A>T, XM_005246611.1:c.21566A>T, XM_005246612.1:c.20837A>T, XM_005246613.1:c.20837A>T, XM_005246614.1:c.21566A>T, XM_005246615.1:c.21566A>T, XM_005246616.1:c.21566A>T, XM_005246617.1:c.18650A>T, XM_005246618.1:c.11660A>TVOUS01/15/2015
224NEBEx118NM_004543.4:c.16482A>Gp.Thr5494= | p.T5494=NM_001164507.1:c.21585A>G, NM_001164508.1:c.21585A>G, NM_001271208.1:c.21690A>G, NM_004543.3:c.16482A>G, NM_004543.4:c.16482A>GBenign04/05/2013 
225NEBEx119NM_004543.4:c.16582G>Cp.Asp5528His | p.D5528HNM_001164507.1:c.21685G>C, NM_001164508.1:c.21685G>C, NM_001271208.1:c.21790G>C, NM_004543.3:c.16582G>C, NM_004543.4:c.16582G>C, XM_005246590.1:c.21685G>C, XM_005246591.1:c.21685G>C, XM_005246592.1:c.21685G>C, XM_005246593.1:c.21685G>C, XM_005246594.1:c.21685G>C, XM_005246595.1:c.21685G>C, XM_005246596.1:c.21685G>C, XM_005246597.1:c.21685G>C, XM_005246598.1:c.21685G>C, XM_005246599.1:c.21685G>C, XM_005246600.1:c.21685G>C, XM_005246601.1:c.21685G>C, XM_005246602.1:c.21685G>C, XM_005246603.1:c.21685G>C, XM_005246604.1:c.21685G>C, XM_005246605.1:c.21685G>C, XM_005246606.1:c.21685G>C, XM_005246607.1:c.21685G>C, XM_005246608.1:c.21685G>C, XM_005246609.1:c.21685G>C, XM_005246610.1:c.21685G>C, XM_005246611.1:c.21685G>C, XM_005246612.1:c.20956G>C, XM_005246613.1:c.20956G>C, XM_005246614.1:c.21685G>C, XM_005246615.1:c.21685G>C, XM_005246616.1:c.21685G>C, XM_005246617.1:c.18769G>C, XM_005246618.1:c.11779G>CVOUS11/19/2014
226NEBEx119NM_004543.4:c.16617C>Tp.Tyr5539= | p.Y5539=NM_001164507.1:c.21720C>T, NM_001164508.1:c.21720C>T, NM_001271208.1:c.21825C>T, NM_004543.3:c.16617C>T, NM_004543.4:c.16617C>T, XM_005246590.1:c.21720C>T, XM_005246591.1:c.21720C>T, XM_005246592.1:c.21720C>T, XM_005246593.1:c.21720C>T, XM_005246594.1:c.21720C>T, XM_005246595.1:c.21720C>T, XM_005246596.1:c.21720C>T, XM_005246597.1:c.21720C>T, XM_005246598.1:c.21720C>T, XM_005246599.1:c.21720C>T, XM_005246600.1:c.21720C>T, XM_005246601.1:c.21720C>T, XM_005246602.1:c.21720C>T, XM_005246603.1:c.21720C>T, XM_005246604.1:c.21720C>T, XM_005246605.1:c.21720C>T, XM_005246606.1:c.21720C>T, XM_005246607.1:c.21720C>T, XM_005246608.1:c.21720C>T, XM_005246609.1:c.21720C>T, XM_005246610.1:c.21720C>T, XM_005246611.1:c.21720C>T, XM_005246612.1:c.20991C>T, XM_005246613.1:c.20991C>T, XM_005246614.1:c.21720C>T, XM_005246615.1:c.21720C>T, XM_005246616.1:c.21720C>T, XM_005246617.1:c.18804C>T, XM_005246618.1:c.11814C>TBenign08/28/2015 
227NEBEx120NM_004543.4:c.16648C>Gp.Gln5550Glu | p.Q5550ENM_001164507.1:c.21751C>G, NM_001164508.1:c.21751C>G, NM_001271208.1:c.21856C>G, NM_004543.3:c.16648C>G, NM_004543.4:c.16648C>G, XM_005246590.1:c.21751C>G, XM_005246591.1:c.21751C>G, XM_005246592.1:c.21751C>G, XM_005246593.1:c.21751C>G, XM_005246594.1:c.21751C>G, XM_005246595.1:c.21751C>G, XM_005246596.1:c.21751C>G, XM_005246597.1:c.21751C>G, XM_005246598.1:c.21751C>G, XM_005246599.1:c.21751C>G, XM_005246600.1:c.21751C>G, XM_005246601.1:c.21751C>G, XM_005246602.1:c.21751C>G, XM_005246603.1:c.21751C>G, XM_005246604.1:c.21751C>G, XM_005246605.1:c.21751C>G, XM_005246606.1:c.21751C>G, XM_005246607.1:c.21751C>G, XM_005246608.1:c.21751C>G, XM_005246609.1:c.21751C>G, XM_005246610.1:c.21751C>G, XM_005246611.1:c.21751C>G, XM_005246612.1:c.21022C>G, XM_005246613.1:c.21022C>G, XM_005246614.1:c.21751C>G, XM_005246615.1:c.21751C>G, XM_005246616.1:c.21751C>G, XM_005246617.1:c.18835C>G, XM_005246618.1:c.11845C>GVOUS08/06/2014
228NEBEx120NM_004543.4:c.16687G>Cp.Asp5563His | p.D5563HNM_001164507.1:c.21790G>C, NM_001164508.1:c.21790G>C, NM_001271208.1:c.21895G>C, NM_004543.3:c.16687G>C, NM_004543.4:c.16687G>C, XM_005246590.1:c.21790G>C, XM_005246591.1:c.21790G>C, XM_005246592.1:c.21790G>C, XM_005246593.1:c.21790G>C, XM_005246594.1:c.21790G>C, XM_005246595.1:c.21790G>C, XM_005246596.1:c.21790G>C, XM_005246597.1:c.21790G>C, XM_005246598.1:c.21790G>C, XM_005246599.1:c.21790G>C, XM_005246600.1:c.21790G>C, XM_005246601.1:c.21790G>C, XM_005246602.1:c.21790G>C, XM_005246603.1:c.21790G>C, XM_005246604.1:c.21790G>C, XM_005246605.1:c.21790G>C, XM_005246606.1:c.21790G>C, XM_005246607.1:c.21790G>C, XM_005246608.1:c.21790G>C, XM_005246609.1:c.21790G>C, XM_005246610.1:c.21790G>C, XM_005246611.1:c.21790G>C, XM_005246612.1:c.21061G>C, XM_005246613.1:c.21061G>C, XM_005246614.1:c.21790G>C, XM_005246615.1:c.21790G>C, XM_005246616.1:c.21790G>C, XM_005246617.1:c.18874G>C, XM_005246618.1:c.11884G>CVOUS06/11/2015
229NEBEx122NM_004543.4:c.16902G>Ap.Thr5634= | p.T5634=NM_001164507.1:c.22005G>A, NM_001164508.1:c.22005G>A, NM_001271208.1:c.22110G>A, NM_004543.3:c.16902G>A, NM_004543.4:c.16902G>A, XM_005246590.1:c.22005G>A, XM_005246591.1:c.22005G>A, XM_005246592.1:c.22005G>A, XM_005246593.1:c.22005G>A, XM_005246594.1:c.22005G>A, XM_005246595.1:c.22005G>A, XM_005246596.1:c.22005G>A, XM_005246597.1:c.22005G>A, XM_005246598.1:c.22005G>A, XM_005246599.1:c.22005G>A, XM_005246600.1:c.22005G>A, XM_005246601.1:c.22005G>A, XM_005246602.1:c.22005G>A, XM_005246603.1:c.22005G>A, XM_005246604.1:c.22005G>A, XM_005246605.1:c.22005G>A, XM_005246606.1:c.22005G>A, XM_005246607.1:c.22005G>A, XM_005246608.1:c.22005G>A, XM_005246609.1:c.22005G>A, XM_005246610.1:c.22005G>A, XM_005246611.1:c.22005G>A, XM_005246612.1:c.21276G>A, XM_005246613.1:c.21276G>A, XM_005246614.1:c.22005G>A, XM_005246615.1:c.22005G>A, XM_005246616.1:c.22005G>A, XM_005246617.1:c.19089G>A, XM_005246618.1:c.12099G>ALikely benign05/19/2015 
230NEBEx123NM_004543.4:c.17007A>Gp.Pro5669= | p.P5669=NM_001164507.1:c.22110A>G, NM_001164508.1:c.22110A>G, NM_001271208.1:c.22215A>G, NM_004543.3:c.17007A>G, NM_004543.4:c.17007A>G, XM_005246590.1:c.22110A>G, XM_005246591.1:c.22110A>G, XM_005246592.1:c.22110A>G, XM_005246593.1:c.22110A>G, XM_005246594.1:c.22110A>G, XM_005246595.1:c.22110A>G, XM_005246596.1:c.22110A>G, XM_005246597.1:c.22110A>G, XM_005246598.1:c.22110A>G, XM_005246599.1:c.22110A>G, XM_005246600.1:c.22110A>G, XM_005246601.1:c.22110A>G, XM_005246602.1:c.22110A>G, XM_005246603.1:c.22110A>G, XM_005246604.1:c.22110A>G, XM_005246605.1:c.22110A>G, XM_005246606.1:c.22110A>G, XM_005246607.1:c.22110A>G, XM_005246608.1:c.22110A>G, XM_005246609.1:c.22110A>G, XM_005246610.1:c.22110A>G, XM_005246611.1:c.22110A>G, XM_005246612.1:c.21381A>G, XM_005246613.1:c.21381A>G, XM_005246614.1:c.22110A>G, XM_005246615.1:c.22110A>G, XM_005246616.1:c.22110A>G, XM_005246617.1:c.19194A>G, XM_005246618.1:c.12204A>GVOUS11/20/2014
231NEBEx123NM_004543.4:c.17019C>Gp.Asp5673Glu | p.D5673ELRG_202t1:c.22227C>G, NM_001164507.1:c.22122C>G, NM_001164508.1:c.22122C>G, NM_001271208.1:c.22227C>G, NM_004543.3:c.17019C>G, NM_004543.4:c.17019C>G, XM_005246590.1:c.22122C>G, XM_005246591.1:c.22122C>G, XM_005246592.1:c.22122C>G, XM_005246593.1:c.22122C>G, XM_005246594.1:c.22122C>G, XM_005246595.1:c.22122C>G, XM_005246596.1:c.22122C>G, XM_005246597.1:c.22122C>G, XM_005246598.1:c.22122C>G, XM_005246599.1:c.22122C>G, XM_005246600.1:c.22122C>G, XM_005246601.1:c.22122C>G, XM_005246602.1:c.22122C>G, XM_005246603.1:c.22122C>G, XM_005246604.1:c.22122C>G, XM_005246605.1:c.22122C>G, XM_005246606.1:c.22122C>G, XM_005246607.1:c.22122C>G, XM_005246608.1:c.22122C>G, XM_005246609.1:c.22122C>G, XM_005246610.1:c.22122C>G, XM_005246611.1:c.22122C>G, XM_005246612.1:c.21393C>G, XM_005246613.1:c.21393C>G, XM_005246614.1:c.22122C>G, XM_005246615.1:c.22122C>G, XM_005246616.1:c.22122C>G, XM_005246617.1:c.19206C>G, XM_005246618.1:c.12216C>GLikely benign10/03/2016 
232NEBEx123NM_004543.4:c.17058+18G>CNM_001164507.1:c.22161+18G>C, NM_001164508.1:c.22161+18G>C, NM_001271208.1:c.22266+18G>C, NM_004543.3:c.17058+18G>C, NM_004543.4:c.17058+18G>CBenign04/05/2013 
233NEBEx126NM_004543.4:c.17326G>Ap.Gly5776Ser | p.G5776SLRG_202t1:c.22534G>A, NM_001164507.1:c.22429G>A, NM_001164508.1:c.22429G>A, NM_001271208.1:c.22534G>A, NM_004543.3:c.17326G>A, NM_004543.4:c.17326G>A, XM_005246590.1:c.22429G>A, XM_005246591.1:c.22429G>A, XM_005246592.1:c.22429G>A, XM_005246593.1:c.22429G>A, XM_005246594.1:c.22429G>A, XM_005246595.1:c.22429G>A, XM_005246596.1:c.22429G>A, XM_005246597.1:c.22429G>A, XM_005246598.1:c.22429G>A, XM_005246599.1:c.22429G>A, XM_005246600.1:c.22429G>A, XM_005246601.1:c.22429G>A, XM_005246602.1:c.22429G>A, XM_005246603.1:c.22429G>A, XM_005246604.1:c.22429G>A, XM_005246605.1:c.22429G>A, XM_005246606.1:c.22429G>A, XM_005246607.1:c.22429G>A, XM_005246608.1:c.22429G>A, XM_005246609.1:c.22429G>A, XM_005246610.1:c.22429G>A, XM_005246611.1:c.22429G>A, XM_005246612.1:c.21700G>A, XM_005246613.1:c.21700G>A, XM_005246614.1:c.22429G>A, XM_005246615.1:c.22429G>A, XM_005246616.1:c.22429G>A, XM_005246617.1:c.19513G>A, XM_005246618.1:c.12523G>AVOUS06/23/2016
234NEBEx127NM_004543.4:c.17432C>Gp.Pro5811Arg | p.P5811RLRG_202t1:c.22640C>G, NM_001164507.1:c.22535C>G, NM_001164508.1:c.22535C>G, NM_001271208.1:c.22640C>G, NM_004543.3:c.17432C>G, NM_004543.4:c.17432C>G, XM_005246590.1:c.22535C>G, XM_005246591.1:c.22535C>G, XM_005246592.1:c.22535C>G, XM_005246593.1:c.22535C>G, XM_005246594.1:c.22535C>G, XM_005246595.1:c.22535C>G, XM_005246596.1:c.22535C>G, XM_005246597.1:c.22535C>G, XM_005246598.1:c.22535C>G, XM_005246599.1:c.22535C>G, XM_005246600.1:c.22535C>G, XM_005246601.1:c.22535C>G, XM_005246602.1:c.22535C>G, XM_005246603.1:c.22535C>G, XM_005246604.1:c.22535C>G, XM_005246605.1:c.22535C>G, XM_005246606.1:c.22535C>G, XM_005246607.1:c.22535C>G, XM_005246608.1:c.22535C>G, XM_005246609.1:c.22535C>G, XM_005246610.1:c.22535C>G, XM_005246611.1:c.22535C>G, XM_005246612.1:c.21806C>G, XM_005246613.1:c.21806C>G, XM_005246614.1:c.22535C>G, XM_005246615.1:c.22535C>G, XM_005246616.1:c.22535C>G, XM_005246617.1:c.19619C>G, XM_005246618.1:c.12629C>GVOUS12/06/2016
235NEBEx130NM_004543.4:c.17775C>Ap.Ala5925= | p.A5925=LRG_202t1:c.22983C>A, NM_001164507.1:c.22878C>A, NM_001164508.1:c.22878C>A, NM_001271208.1:c.22983C>A, NM_004543.3:c.17775C>A, NM_004543.4:c.17775C>A, XM_005246590.1:c.22878C>A, XM_005246591.1:c.22878C>A, XM_005246592.1:c.22878C>A, XM_005246593.1:c.22878C>A, XM_005246594.1:c.22878C>A, XM_005246595.1:c.22878C>A, XM_005246596.1:c.22878C>A, XM_005246597.1:c.22878C>A, XM_005246598.1:c.22878C>A, XM_005246599.1:c.22878C>A, XM_005246600.1:c.22878C>A, XM_005246601.1:c.22878C>A, XM_005246602.1:c.22878C>A, XM_005246603.1:c.22878C>A, XM_005246604.1:c.22878C>A, XM_005246605.1:c.22878C>A, XM_005246606.1:c.22878C>A, XM_005246607.1:c.22878C>A, XM_005246608.1:c.22878C>A, XM_005246609.1:c.22878C>A, XM_005246610.1:c.22878C>A, XM_005246611.1:c.22878C>A, XM_005246612.1:c.22149C>A, XM_005246613.1:c.22149C>A, XM_005246614.1:c.22878C>A, XM_005246615.1:c.22878C>A, XM_005246616.1:c.22878C>A, XM_005246617.1:c.19962C>A, XM_005246618.1:c.12972C>AVOUS10/30/2019
236NEBEx130NM_004543.4:c.17801G>Ap.Gly5934Glu | p.G5934ENM_001164507.1:c.22904G>A, NM_001164508.1:c.22904G>A, NM_001271208.1:c.23009G>A, NM_004543.3:c.17801G>A, NM_004543.4:c.17801G>A, XM_005246590.1:c.22904G>A, XM_005246591.1:c.22904G>A, XM_005246592.1:c.22904G>A, XM_005246593.1:c.22904G>A, XM_005246594.1:c.22904G>A, XM_005246595.1:c.22904G>A, XM_005246596.1:c.22904G>A, XM_005246597.1:c.22904G>A, XM_005246598.1:c.22904G>A, XM_005246599.1:c.22904G>A, XM_005246600.1:c.22904G>A, XM_005246601.1:c.22904G>A, XM_005246602.1:c.22904G>A, XM_005246603.1:c.22904G>A, XM_005246604.1:c.22904G>A, XM_005246605.1:c.22904G>A, XM_005246606.1:c.22904G>A, XM_005246607.1:c.22904G>A, XM_005246608.1:c.22904G>A, XM_005246609.1:c.22904G>A, XM_005246610.1:c.22904G>A, XM_005246611.1:c.22904G>A, XM_005246612.1:c.22175G>A, XM_005246613.1:c.22175G>A, XM_005246614.1:c.22904G>A, XM_005246615.1:c.22904G>A, XM_005246616.1:c.22904G>A, XM_005246617.1:c.19988G>A, XM_005246618.1:c.12998G>ABenign02/13/2015 
237NEBEx131NM_004543.4:c.17910C>Tp.Ser5970= | p.S5970=NM_001164507.1:c.23013C>T, NM_001164508.1:c.23013C>T, NM_001271208.1:c.23118C>T, NM_004543.3:c.17910C>T, NM_004543.4:c.17910C>T, XM_005246590.1:c.23013C>T, XM_005246591.1:c.23013C>T, XM_005246592.1:c.23013C>T, XM_005246593.1:c.23013C>T, XM_005246594.1:c.23013C>T, XM_005246595.1:c.23013C>T, XM_005246596.1:c.23013C>T, XM_005246597.1:c.23013C>T, XM_005246598.1:c.23013C>T, XM_005246599.1:c.23013C>T, XM_005246600.1:c.23013C>T, XM_005246601.1:c.23013C>T, XM_005246602.1:c.23013C>T, XM_005246603.1:c.23013C>T, XM_005246604.1:c.23013C>T, XM_005246605.1:c.23013C>T, XM_005246606.1:c.23013C>T, XM_005246607.1:c.23013C>T, XM_005246608.1:c.23013C>T, XM_005246609.1:c.23013C>T, XM_005246610.1:c.23013C>T, XM_005246611.1:c.23013C>T, XM_005246612.1:c.22284C>T, XM_005246613.1:c.22284C>T, XM_005246614.1:c.23013C>T, XM_005246615.1:c.23013C>T, XM_005246616.1:c.23013C>T, XM_005246617.1:c.20097C>T, XM_005246618.1:c.13107C>TVOUS12/23/2014
238NEBEx132NM_004543.4:c.17952G>Ap.Gly5984= | p.G5984=LRG_202t1:c.23160G>A, NM_001164507.1:c.23055G>A, NM_001164508.1:c.23055G>A, NM_001271208.1:c.23160G>A, NM_004543.3:c.17952G>A, NM_004543.4:c.17952G>A, XM_005246590.1:c.23055G>A, XM_005246591.1:c.23055G>A, XM_005246592.1:c.23055G>A, XM_005246593.1:c.23055G>A, XM_005246594.1:c.23055G>A, XM_005246595.1:c.23055G>A, XM_005246596.1:c.23055G>A, XM_005246597.1:c.23055G>A, XM_005246598.1:c.23055G>A, XM_005246599.1:c.23055G>A, XM_005246600.1:c.23055G>A, XM_005246601.1:c.23055G>A, XM_005246602.1:c.23055G>A, XM_005246603.1:c.23055G>A, XM_005246604.1:c.23055G>A, XM_005246605.1:c.23055G>A, XM_005246606.1:c.23055G>A, XM_005246607.1:c.23055G>A, XM_005246608.1:c.23055G>A, XM_005246609.1:c.23055G>A, XM_005246610.1:c.23055G>A, XM_005246611.1:c.23055G>A, XM_005246612.1:c.22326G>A, XM_005246613.1:c.22326G>A, XM_005246614.1:c.23055G>A, XM_005246615.1:c.23055G>A, XM_005246616.1:c.23055G>A, XM_005246617.1:c.20139G>A, XM_005246618.1:c.13149G>ABenign09/11/2019 
239NEBEx134NM_004543.4:c.18164T>Cp.Met6055Thr | p.M6055TNM_001164507.1:c.23267T>C, NM_001164508.1:c.23267T>C, NM_001271208.1:c.23372T>C, NM_004543.3:c.18164T>C, NM_004543.4:c.18164T>C, XM_005246590.1:c.23267T>C, XM_005246591.1:c.23267T>C, XM_005246592.1:c.23267T>C, XM_005246593.1:c.23267T>C, XM_005246594.1:c.23267T>C, XM_005246595.1:c.23267T>C, XM_005246596.1:c.23267T>C, XM_005246597.1:c.23267T>C, XM_005246598.1:c.23267T>C, XM_005246599.1:c.23267T>C, XM_005246600.1:c.23267T>C, XM_005246601.1:c.23267T>C, XM_005246602.1:c.23267T>C, XM_005246603.1:c.23267T>C, XM_005246604.1:c.23267T>C, XM_005246605.1:c.23267T>C, XM_005246606.1:c.23267T>C, XM_005246607.1:c.23267T>C, XM_005246608.1:c.23267T>C, XM_005246609.1:c.23267T>C, XM_005246610.1:c.23267T>C, XM_005246611.1:c.23267T>C, XM_005246612.1:c.22538T>C, XM_005246613.1:c.22538T>C, XM_005246614.1:c.23267T>C, XM_005246615.1:c.23267T>C, XM_005246617.1:c.20351T>C, XM_005246618.1:c.13361T>CVOUS01/13/2014
240NEBEx134NM_004543.4:c.18175A>Gp.Asn6059Asp | p.N6059DNM_001164507.1:c.23278A>G, NM_001164508.1:c.23278A>G, NM_001271208.1:c.23383A>G, NM_004543.3:c.18175A>G, NM_004543.4:c.18175A>GVOUS10/03/2013
241NEBEx136NM_004543.4:c.18393_18396delAGTTp.Val6132Phefs*10 | p.V6132FfsX10LRG_202t1:c.23601_23604delAGTT, NM_001164507.1:c.23496_23499delAGTT, NM_001164508.1:c.23496_23499delAGTT, NM_001271208.1:c.23601_23604delAGTT, NM_004543.3:c.18393_18396delAGTT, NM_004543.4:c.18393_18396delAGTT, XM_005246590.1:c.23496_23499delAGTT, XM_005246591.1:c.23496_23499delAGTT, XM_005246592.1:c.23496_23499delAGTT, XM_005246593.1:c.23496_23499delAGTT, XM_005246594.1:c.23496_23499delAGTT, XM_005246595.1:c.23496_23499delAGTT, XM_005246596.1:c.23496_23499delAGTT, XM_005246597.1:c.23496_23499delAGTT, XM_005246598.1:c.23496_23499delAGTT, XM_005246599.1:c.23496_23499delAGTT, XM_005246600.1:c.23496_23499delAGTT, XM_005246601.1:c.23496_23499delAGTT, XM_005246602.1:c.23496_23499delAGTT, XM_005246603.1:c.23496_23499delAGTT, XM_005246604.1:c.23496_23499delAGTT, XM_005246605.1:c.23496_23499delAGTT, XM_005246606.1:c.23496_23499delAGTT, XM_005246607.1:c.23496_23499delAGTT, XM_005246608.1:c.23496_23499delAGTT, XM_005246609.1:c.23496_23499delAGTT, XM_005246610.1:c.23496_23499delAGTT, XM_0052466Pathogenic09/29/2017 
242NEBEx137NM_004543.4:c.18496A>Cp.Lys6166Gln | p.K6166QNM_001164507.1:c.23599A>C, NM_001164508.1:c.23599A>C, NM_001271208.1:c.23704A>C, NM_004543.3:c.18496A>C, NM_004543.4:c.18496A>C, XM_005246590.1:c.23599A>C, XM_005246591.1:c.23599A>C, XM_005246592.1:c.23599A>C, XM_005246593.1:c.23599A>C, XM_005246594.1:c.23599A>C, XM_005246595.1:c.23599A>C, XM_005246596.1:c.23599A>C, XM_005246597.1:c.23599A>C, XM_005246598.1:c.23599A>C, XM_005246599.1:c.23599A>C, XM_005246600.1:c.23599A>C, XM_005246601.1:c.23599A>C, XM_005246602.1:c.23599A>C, XM_005246603.1:c.23599A>C, XM_005246604.1:c.23599A>C, XM_005246605.1:c.23599A>C, XM_005246606.1:c.23599A>C, XM_005246607.1:c.23599A>C, XM_005246608.1:c.23599A>C, XM_005246609.1:c.23599A>C, XM_005246610.1:c.23599A>C, XM_005246611.1:c.23599A>C, XM_005246612.1:c.22870A>C, XM_005246613.1:c.22870A>C, XM_005246614.1:c.23599A>C, XM_005246615.1:c.23599A>C, XM_005246616.1:c.23599A>C, XM_005246617.1:c.20683A>C, XM_005246618.1:c.13693A>CBenign02/13/2015 
243NEBEx137NM_004543.4:c.18545C>Tp.Ser6182Leu | p.S6182LNM_001164507.1:c.23648C>T, NM_001164508.1:c.23648C>T, NM_001271208.1:c.23753C>T, NM_004543.3:c.18545C>T, NM_004543.4:c.18545C>T, XM_005246590.1:c.23648C>T, XM_005246591.1:c.23648C>T, XM_005246592.1:c.23648C>T, XM_005246593.1:c.23648C>T, XM_005246594.1:c.23648C>T, XM_005246595.1:c.23648C>T, XM_005246596.1:c.23648C>T, XM_005246597.1:c.23648C>T, XM_005246598.1:c.23648C>T, XM_005246599.1:c.23648C>T, XM_005246600.1:c.23648C>T, XM_005246601.1:c.23648C>T, XM_005246602.1:c.23648C>T, XM_005246603.1:c.23648C>T, XM_005246604.1:c.23648C>T, XM_005246605.1:c.23648C>T, XM_005246606.1:c.23648C>T, XM_005246607.1:c.23648C>T, XM_005246608.1:c.23648C>T, XM_005246609.1:c.23648C>T, XM_005246610.1:c.23648C>T, XM_005246611.1:c.23648C>T, XM_005246612.1:c.22919C>T, XM_005246613.1:c.22919C>T, XM_005246614.1:c.23648C>T, XM_005246615.1:c.23648C>T, XM_005246617.1:c.20732C>T, XM_005246618.1:c.13742C>TVOUS05/20/2016
244NEBEx138NM_004543.4:c.18547-5T>GNM_001164507.1:c.23650-5T>G, NM_001164508.1:c.23650-5T>G, NM_001271208.1:c.23755-5T>G, NM_004543.3:c.18547-5T>G, NM_004543.4:c.18547-5T>G, XM_005246590.1:c.23650-5T>G, XM_005246591.1:c.23650-5T>G, XM_005246592.1:c.23650-5T>G, XM_005246593.1:c.23650-5T>G, XM_005246594.1:c.23650-5T>G, XM_005246595.1:c.23649+591T>G, XM_005246596.1:c.23650-5T>G, XM_005246597.1:c.23650-5T>G, XM_005246598.1:c.23650-5T>G, XM_005246599.1:c.23650-5T>G, XM_005246600.1:c.23650-5T>G, XM_005246601.1:c.23650-5T>G, XM_005246602.1:c.23650-5T>G, XM_005246603.1:c.23650-5T>G, XM_005246604.1:c.23650-5T>G, XM_005246605.1:c.23650-5T>G, XM_005246606.1:c.23650-5T>G, XM_005246607.1:c.23650-5T>G, XM_005246608.1:c.23650-5T>G, XM_005246609.1:c.23650-5T>G, XM_005246610.1:c.23650-5T>G, XM_005246611.1:c.23650-5T>G, XM_005246612.1:c.22921-5T>G, XM_005246613.1:c.22921-5T>G, XM_005246614.1:c.23650-5T>G, XM_005246615.1:c.23650-5T>G, XM_005246616.1:c.23650-5T>G, XM_005246617.1:c.20734-5T>G, XM_005246618.1:c.13744-5T>GVOUS02/02/2015
245NEBEx139NM_004543.4:c.18660G>Cp.Leu6220Phe | p.L6220FLRG_202t1:c.23868G>C, NM_001164507.1:c.23763G>C, NM_001164508.1:c.23763G>C, NM_001271208.1:c.23868G>C, NM_004543.3:c.18660G>C, NM_004543.4:c.18660G>C, XM_005246590.1:c.23763G>C, XM_005246591.1:c.23763G>C, XM_005246592.1:c.23763G>C, XM_005246593.1:c.23763G>C, XM_005246594.1:c.23763G>C, XM_005246595.1:c.23670G>C, XM_005246596.1:c.23763G>C, XM_005246597.1:c.23763G>C, XM_005246598.1:c.23763G>C, XM_005246599.1:c.23763G>C, XM_005246600.1:c.23763G>C, XM_005246601.1:c.23763G>C, XM_005246602.1:c.23763G>C, XM_005246603.1:c.23763G>C, XM_005246604.1:c.23763G>C, XM_005246605.1:c.23763G>C, XM_005246606.1:c.23763G>C, XM_005246607.1:c.23763G>C, XM_005246608.1:c.23763G>C, XM_005246609.1:c.23763G>C, XM_005246610.1:c.23763G>C, XM_005246611.1:c.23763G>C, XM_005246612.1:c.23034G>C, XM_005246613.1:c.23034G>C, XM_005246614.1:c.23763G>C, XM_005246615.1:c.23763G>C, XM_005246616.1:c.23763G>C, XM_005246617.1:c.20847G>C, XM_005246618.1:c.13857G>CVOUS03/17/2020
246NEBEx139NM_004543.4:c.18673C>Tp.Pro6225Ser | p.P6225SNM_001164507.1:c.23776C>T, NM_001164508.1:c.23776C>T, NM_001271208.1:c.23881C>T, NM_004543.3:c.18673C>T, NM_004543.4:c.18673C>T, XM_005246590.1:c.23776C>T, XM_005246591.1:c.23776C>T, XM_005246592.1:c.23776C>T, XM_005246593.1:c.23776C>T, XM_005246594.1:c.23776C>T, XM_005246595.1:c.23683C>T, XM_005246596.1:c.23776C>T, XM_005246597.1:c.23776C>T, XM_005246598.1:c.23776C>T, XM_005246599.1:c.23776C>T, XM_005246600.1:c.23776C>T, XM_005246601.1:c.23776C>T, XM_005246602.1:c.23776C>T, XM_005246603.1:c.23776C>T, XM_005246604.1:c.23776C>T, XM_005246605.1:c.23776C>T, XM_005246606.1:c.23776C>T, XM_005246607.1:c.23776C>T, XM_005246608.1:c.23776C>T, XM_005246609.1:c.23776C>T, XM_005246610.1:c.23776C>T, XM_005246611.1:c.23776C>T, XM_005246612.1:c.23047C>T, XM_005246613.1:c.23047C>T, XM_005246614.1:c.23776C>T, XM_005246615.1:c.23776C>T, XM_005246616.1:c.23776C>T, XM_005246617.1:c.20860C>T, XM_005246618.1:c.13870C>TLikely benign03/23/2015 
247NEBEx141NM_004543.4:c.18865G>Cp.Ala6289Pro | p.A6289PNM_001164507.1:c.24433G>C, NM_001164508.1:c.24433G>C, NM_001271208.1:c.24538G>C, NM_004543.3:c.18865G>C, NM_004543.4:c.18865G>CBenign11/14/2013 
248NEBEx141NM_004543.4:c.18885G>Ap.Glu6295= | p.E6295=LRG_202t1:c.24558G>A, NM_001164507.1:c.24453G>A, NM_001164508.1:c.24453G>A, NM_001271208.1:c.24558G>A, NM_004543.3:c.18885G>A, NM_004543.4:c.18885G>A, XM_005246590.1:c.24360G>A, XM_005246591.1:c.24360G>A, XM_005246592.1:c.24360G>A, XM_005246593.1:c.24453G>A, XM_005246594.1:c.24360G>A, XM_005246595.1:c.24360G>A, XM_005246596.1:c.24267G>A, XM_005246597.1:c.24300+1317G>A, XM_005246598.1:c.24453G>A, XM_005246599.1:c.24174G>A, XM_005246600.1:c.24174G>A, XM_005246601.1:c.24081G>A, XM_005246602.1:c.24081G>A, XM_005246603.1:c.23988G>A, XM_005246604.1:c.24081G>A, XM_005246605.1:c.23988G>A, XM_005246606.1:c.23988G>A, XM_005246607.1:c.23895G>A, XM_005246608.1:c.23929-2056G>A, XM_005246609.1:c.23895G>A, XM_005246610.1:c.23836-2056G>A, XM_005246611.1:c.24022-2864G>A, XM_005246612.1:c.23724G>A, XM_005246613.1:c.23724G>A, XM_005246614.1:c.23895G>A, XM_005246615.1:c.23928+1317G>A, XM_005246616.1:c.*1915G>A, XM_005246617.1:c.21537G>A, XM_005246618.1:c.14547G>A, XR_241332.1:n.578+983C>TVOUS04/19/2017
249NEBEx142NM_004543.4:c.18941G>Ap.Gly6314Glu | p.G6314EVOUS03/12/2013
250NEBEx142NM_004543.4:c.18952G>Ap.Ala6318Thr | p.A6318TNM_001164507.1:c.24520G>A, NM_001164508.1:c.24520G>A, NM_001271208.1:c.24625G>A, NM_004543.3:c.18952G>A, NM_004543.4:c.18952G>A, XM_005246590.1:c.24427G>A, XM_005246591.1:c.24427G>A, XM_005246592.1:c.24427G>A, XM_005246593.1:c.24520G>A, XM_005246594.1:c.24427G>A, XM_005246595.1:c.24427G>A, XM_005246596.1:c.24334G>A, XM_005246597.1:c.24334G>A, XM_005246598.1:c.24520G>A, XM_005246599.1:c.24241G>A, XM_005246600.1:c.24241G>A, XM_005246601.1:c.24148G>A, XM_005246602.1:c.24148G>A, XM_005246603.1:c.24055G>A, XM_005246604.1:c.24148G>A, XM_005246605.1:c.24055G>A, XM_005246606.1:c.24055G>A, XM_005246607.1:c.23962G>A, XM_005246608.1:c.23962G>A, XM_005246609.1:c.23962G>A, XM_005246610.1:c.23869G>A, XM_005246611.1:c.24022-775G>A, XM_005246612.1:c.23791G>A, XM_005246613.1:c.23791G>A, XM_005246614.1:c.23962G>A, XM_005246615.1:c.23962G>A, XM_005246616.1:c.*4004G>A, XM_005246617.1:c.21604G>A, XM_005246618.1:c.14614G>A, XR_241332.1:n.481-1009C>TVOUS11/13/2015
251NEBEx143NM_004543.4:c.19097_19098delTTp.Phe6366* | p.F6366XNM_001164507.1:c.24665_24666delTT, NM_001164508.1:c.24665_24666delTT, NM_001271208.1:c.24770_24771delTT, NM_004543.3:c.19097_19098delTT, NM_004543.4:c.19097_19098delTT, XM_005246590.1:c.24572_24573delTT, XM_005246591.1:c.24572_24573delTT, XM_005246592.1:c.24572_24573delTT, XM_005246593.1:c.24580-337_24580-336delTT, XM_005246594.1:c.24572_24573delTT, XM_005246595.1:c.24572_24573delTT, XM_005246596.1:c.24479_24480delTT, XM_005246597.1:c.24479_24480delTT, XM_005246598.1:c.24579+379_24579+380delTT, XM_005246599.1:c.24386_24387delTT, XM_005246600.1:c.24386_24387delTT, XM_005246601.1:c.24293_24294delTT, XM_005246602.1:c.24293_24294delTT, XM_005246603.1:c.24200_24201delTT, XM_005246604.1:c.24208-337_24208-336delTT, XM_005246605.1:c.24200_24201delTT, XM_005246606.1:c.24200_24201delTT, XM_005246607.1:c.24107_24108delTT, XM_005246608.1:c.24107_24108delTT, XM_005246609.1:c.24022-337_24022-336delTT, XM_005246610.1:c.24014_24015delTT, XM_005246611.1:c.24022-337_24022-336delTT, XM_005246612.1:c.23Pathogenic07/01/2014 
252NEBEx145NM_004543.4:c.19198-18C>TNM_001164507.1:c.24766-18C>T, NM_001164508.1:c.24766-18C>T, NM_001271208.1:c.24871-18C>T, NM_004543.3:c.19198-18C>T, NM_004543.4:c.19198-18C>TBenign04/05/2013 
253NEBEx146NM_004543.4:c.19467C>Tp.Asp6489= | p.D6489=NM_001164507.1:c.25035C>T, NM_001164508.1:c.25035C>T, NM_001271208.1:c.25140C>T, NM_004543.3:c.19467C>T, NM_004543.4:c.19467C>T, XM_005246590.1:c.24942C>T, XM_005246591.1:c.24942C>T, XM_005246592.1:c.24942C>T, XM_005246593.1:c.24942C>T, XM_005246594.1:c.24942C>T, XM_005246595.1:c.24942C>T, XM_005246596.1:c.24849C>T, XM_005246597.1:c.24849C>T, XM_005246598.1:c.24849C>T, XM_005246599.1:c.24756C>T, XM_005246600.1:c.24756C>T, XM_005246601.1:c.24663C>T, XM_005246602.1:c.24663C>T, XM_005246603.1:c.24570C>T, XM_005246604.1:c.24570C>T, XM_005246605.1:c.24570C>T, XM_005246606.1:c.24570C>T, XM_005246607.1:c.24477C>T, XM_005246608.1:c.24477C>T, XM_005246609.1:c.24384C>T, XM_005246610.1:c.24384C>T, XM_005246611.1:c.24384C>T, XM_005246612.1:c.24306C>T, XM_005246613.1:c.24306C>T, XM_005246614.1:c.24291C>T, XM_005246615.1:c.24291C>T, XM_005246617.1:c.22119C>T, XM_005246618.1:c.15129C>TVOUS01/29/2016
254NEBEx146NM_004543.4:c.19470A>Gp.Gln6490= | p.Q6490=LRG_202t1:c.25143A>G, NM_001164507.1:c.25038A>G, NM_001164508.1:c.25038A>G, NM_001271208.1:c.25143A>G, NM_004543.3:c.19470A>G, NM_004543.4:c.19470A>G, XM_005246590.1:c.24945A>G, XM_005246591.1:c.24945A>G, XM_005246592.1:c.24945A>G, XM_005246593.1:c.24945A>G, XM_005246594.1:c.24945A>G, XM_005246595.1:c.24945A>G, XM_005246596.1:c.24852A>G, XM_005246597.1:c.24852A>G, XM_005246598.1:c.24852A>G, XM_005246599.1:c.24759A>G, XM_005246600.1:c.24759A>G, XM_005246601.1:c.24666A>G, XM_005246602.1:c.24666A>G, XM_005246603.1:c.24573A>G, XM_005246604.1:c.24573A>G, XM_005246605.1:c.24573A>G, XM_005246606.1:c.24573A>G, XM_005246607.1:c.24480A>G, XM_005246608.1:c.24480A>G, XM_005246609.1:c.24387A>G, XM_005246610.1:c.24387A>G, XM_005246611.1:c.24387A>G, XM_005246612.1:c.24309A>G, XM_005246613.1:c.24309A>G, XM_005246614.1:c.24294A>G, XM_005246615.1:c.24294A>G, XM_005246617.1:c.22122A>G, XM_005246618.1:c.15132A>G, XR_241332.1:n.481-3112T>CVOUS10/30/2019
255NEBEx147NM_004543.4:c.19496G>Tp.Arg6499Leu | p.R6499LLRG_202t1:c.25169G>T, NM_001164507.1:c.25064G>T, NM_001164508.1:c.25064G>T, NM_001271208.1:c.25169G>T, NM_004543.3:c.19496G>T, NM_004543.4:c.19496G>T, XM_005246590.1:c.24971G>T, XM_005246591.1:c.24971G>T, XM_005246592.1:c.24971G>T, XM_005246593.1:c.24971G>T, XM_005246594.1:c.24971G>T, XM_005246595.1:c.24971G>T, XM_005246596.1:c.24878G>T, XM_005246597.1:c.24878G>T, XM_005246598.1:c.24878G>T, XM_005246599.1:c.24785G>T, XM_005246600.1:c.24785G>T, XM_005246601.1:c.24692G>T, XM_005246602.1:c.24692G>T, XM_005246603.1:c.24599G>T, XM_005246604.1:c.24599G>T, XM_005246605.1:c.24599G>T, XM_005246606.1:c.24599G>T, XM_005246607.1:c.24506G>T, XM_005246608.1:c.24506G>T, XM_005246609.1:c.24413G>T, XM_005246610.1:c.24413G>T, XM_005246611.1:c.24413G>T, XM_005246612.1:c.24335G>T, XM_005246613.1:c.24335G>T, XM_005246614.1:c.24320G>T, XM_005246615.1:c.24320G>T, XM_005246617.1:c.22148G>T, XM_005246618.1:c.15158G>T, XR_241332.1:n.481-3460C>AVOUS05/12/2016
256NEBEx147NM_004543.4:c.19504C>Tp.Arg6502Cys | p.R6502CNM_001164507.1:c.25072C>T, NM_001164508.1:c.25072C>T, NM_001271208.1:c.25177C>T, NM_004543.3:c.19504C>T, NM_004543.4:c.19504C>T, XM_005246590.1:c.24979C>T, XM_005246591.1:c.24979C>T, XM_005246592.1:c.24979C>T, XM_005246593.1:c.24979C>T, XM_005246594.1:c.24979C>T, XM_005246595.1:c.24979C>T, XM_005246596.1:c.24886C>T, XM_005246597.1:c.24886C>T, XM_005246598.1:c.24886C>T, XM_005246599.1:c.24793C>T, XM_005246600.1:c.24793C>T, XM_005246601.1:c.24700C>T, XM_005246602.1:c.24700C>T, XM_005246603.1:c.24607C>T, XM_005246604.1:c.24607C>T, XM_005246605.1:c.24607C>T, XM_005246606.1:c.24607C>T, XM_005246607.1:c.24514C>T, XM_005246608.1:c.24514C>T, XM_005246609.1:c.24421C>T, XM_005246610.1:c.24421C>T, XM_005246611.1:c.24421C>T, XM_005246612.1:c.24343C>T, XM_005246613.1:c.24343C>T, XM_005246614.1:c.24328C>T, XM_005246615.1:c.24328C>T, XM_005246617.1:c.22156C>T, XM_005246618.1:c.15166C>T, XR_241332.1:n.481-3468G>AVOUS12/16/2015
257NEBEx148NM_004543.4:c.19636A>Gp.Ile6546Val | p.I6546VNM_001164507.1:c.25204A>G, NM_001164508.1:c.25204A>G, NM_001271208.1:c.25309A>G, NM_004543.3:c.19636A>G, NM_004543.4:c.19636A>GBenign04/05/2013 
258NEBEx149NM_004543.4:c.19799C>Tp.Thr6600Met | p.T6600MNM_001164507.1:c.25367C>T, NM_001164508.1:c.25367C>T, NM_001271208.1:c.25472C>T, NM_004543.3:c.19799C>T, NM_004543.4:c.19799C>T, XM_005246590.1:c.25274C>T, XM_005246591.1:c.25274C>T, XM_005246592.1:c.25274C>T, XM_005246593.1:c.25274C>T, XM_005246594.1:c.25274C>T, XM_005246595.1:c.25274C>T, XM_005246596.1:c.25181C>T, XM_005246597.1:c.25181C>T, XM_005246598.1:c.25181C>T, XM_005246599.1:c.25088C>T, XM_005246600.1:c.25088C>T, XM_005246601.1:c.24995C>T, XM_005246602.1:c.24995C>T, XM_005246603.1:c.24902C>T, XM_005246604.1:c.24902C>T, XM_005246605.1:c.24902C>T, XM_005246606.1:c.24902C>T, XM_005246607.1:c.24809C>T, XM_005246608.1:c.24809C>T, XM_005246609.1:c.24716C>T, XM_005246610.1:c.24716C>T, XM_005246611.1:c.24716C>T, XM_005246612.1:c.24638C>T, XM_005246613.1:c.24638C>T, XM_005246614.1:c.24623C>T, XM_005246615.1:c.24623C>T, XM_005246617.1:c.22451C>T, XM_005246618.1:c.15461C>T, XR_241332.1:n.480+3252G>AVOUS11/20/2014
259NEBEx150NM_004543.4:c.19877C>Gp.Ala6626Gly | p.A6626GLRG_202t1:c.25550C>G, NM_001164507.1:c.25445C>G, NM_001164508.1:c.25445C>G, NM_001271208.1:c.25550C>G, NM_004543.3:c.19877C>G, NM_004543.4:c.19877C>G, XM_005246590.1:c.25352C>G, XM_005246591.1:c.25352C>G, XM_005246592.1:c.25352C>G, XM_005246593.1:c.25352C>G, XM_005246594.1:c.25352C>G, XM_005246595.1:c.25352C>G, XM_005246596.1:c.25259C>G, XM_005246597.1:c.25259C>G, XM_005246598.1:c.25259C>G, XM_005246599.1:c.25166C>G, XM_005246600.1:c.25166C>G, XM_005246601.1:c.25073C>G, XM_005246602.1:c.25073C>G, XM_005246603.1:c.24980C>G, XM_005246604.1:c.24980C>G, XM_005246605.1:c.24980C>G, XM_005246606.1:c.24980C>G, XM_005246607.1:c.24887C>G, XM_005246608.1:c.24887C>G, XM_005246609.1:c.24794C>G, XM_005246610.1:c.24794C>G, XM_005246611.1:c.24794C>G, XM_005246612.1:c.24716C>G, XM_005246613.1:c.24716C>G, XM_005246614.1:c.24701C>G, XM_005246615.1:c.24701C>G, XM_005246617.1:c.22529C>G, XM_005246618.1:c.15539C>G, XR_241332.1:n.-384G>CVOUS10/14/2016
260NEBEx150NM_004543.4:c.19974C>Tp.Thr6658= | p.T6658=NM_001164507.1:c.25542C>T, NM_001164508.1:c.25542C>T, NM_001271208.1:c.25647C>T, NM_004543.3:c.19974C>T, NM_004543.4:c.19974C>T, XM_005246590.1:c.25449C>T, XM_005246591.1:c.25449C>T, XM_005246592.1:c.25449C>T, XM_005246593.1:c.25449C>T, XM_005246594.1:c.25449C>T, XM_005246595.1:c.25449C>T, XM_005246596.1:c.25356C>T, XM_005246597.1:c.25356C>T, XM_005246598.1:c.25356C>T, XM_005246599.1:c.25263C>T, XM_005246600.1:c.25263C>T, XM_005246601.1:c.25170C>T, XM_005246602.1:c.25170C>T, XM_005246603.1:c.25077C>T, XM_005246604.1:c.25077C>T, XM_005246605.1:c.25077C>T, XM_005246606.1:c.25077C>T, XM_005246607.1:c.24984C>T, XM_005246608.1:c.24984C>T, XM_005246609.1:c.24891C>T, XM_005246610.1:c.24891C>T, XM_005246611.1:c.24891C>T, XM_005246612.1:c.24813C>T, XM_005246613.1:c.24813C>T, XM_005246614.1:c.24798C>T, XM_005246615.1:c.24798C>T, XM_005246617.1:c.22626C>T, XM_005246618.1:c.15636C>T, XR_241332.1:n.-481G>ABenign02/13/2015 
261NEBLEx1NM_006393.2:c.11C>Tp.Pro4Leu | p.P4LNM_001173484.1:c.357+64477C>T, NM_006393.2:c.11C>T, NM_213569.2:c.357+64477C>T, XM_005252341.1:c.34-166C>T, XM_005252342.1:c.11C>T, XM_005252343.1:c.11C>T, XM_005252344.1:c.11C>T, XR_242691.1:n.131C>TBenign04/10/2015 
262NEBLEx7NM_006393.2:c.604G>Ap.Gly202Arg | p.G202RNM_001173484.1:c.358-55804G>A, NM_006393.2:c.604G>A, NM_213569.2:c.358-55804G>A, XM_005252341.1:c.556G>A, XM_005252342.1:c.502G>A, XM_005252343.1:c.604G>A, XM_005252344.1:c.604G>A, XR_242691.1:n.724G>AVOUS07/14/2015
263NEBLEx22NM_006393.2:c.2182A>Gp.Thr728Ala | p.T728ANM_001173484.1:c.358-2744A>G, NM_006393.2:c.2182A>G, NM_213569.2:c.358-2744A>G, XM_005252341.1:c.2134A>G, XM_005252342.1:c.2080A>G, XM_005252343.1:c.2182A>G, XM_005252344.1:c.2182A>G, XR_242691.1:n.3022A>GBenign05/04/2015 

* Review is pending
** Variant has not been reviewed since the launch of this product (6/15/2012)

URL Parameter Syntax

EmVClass may be automatically searched using the argument [approved_symbol] such as in the example link for the gene CFTR: https://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CFTR

Download

EmVClass data for all genes and variants that have been seen and analyzed by NTD Genetics may be downloaded as a CSV plain text file which is designated to be updated quarterly. Data is subject to change and format is subject to modification.

EmVClass.2021-Q4.csv

Disclaimer

The interpretation of nucleotide changes is based on our current understanding of the variant at the time it was observed in a clinical case. Interpretations may not be current. Some data may not be represented. These interpretations may change over time as more information about the genes becomes available. The data presented here are not intended for clinical use outside of the context of an official NTD Genetics clinical report and should be approached with caution. Only variants identified at NTD Genetics are listed in the EmVClass. If you intend to use NTD Genetics' classification for publication purposes please contact the laboratory for permission.