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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  
1CACNA1CEx2NM_000719.6:c.50-3C>TNM_000719.6:c.50-3C>T, NM_001129827.1:c.50-3C>T, NM_001129829.1:c.50-3C>T, NM_001129830.1:c.50-3C>T, NM_001129831.1:c.50-3C>T, NM_001129832.1:c.50-3C>T, NM_001129833.1:c.50-3C>T, NM_001129834.1:c.50-3C>T, NM_001129835.1:c.50-3C>T, NM_001129836.1:c.50-3C>T, NM_001129837.1:c.50-3C>T, NM_001129838.1:c.50-3C>T, NM_001129839.1:c.50-3C>T, NM_001129840.1:c.50-3C>T, NM_001129841.1:c.50-3C>T, NM_001129842.1:c.50-3C>T, NM_001129843.1:c.50-3C>T, NM_001129844.1:c.50-3C>T, NM_001129846.1:c.50-3C>T, NM_001167623.1:c.50-3C>T, NM_001167624.1:c.50-3C>T, NM_001167625.1:c.50-3C>T, NM_199460.2:c.50-3C>T, XM_005253765.1:c.140-3C>T, XM_005253766.1:c.50-3C>T, XM_005253767.1:c.50-3C>T, XM_005253768.1:c.50-3C>T, XM_005253769.1:c.50-3C>T, XM_005253770.1:c.50-3C>T, XM_005253771.1:c.50-3C>T, XM_005253772.1:c.50-3C>T, XM_005253773.1:c.50-3C>T, XM_005253774.1:c.50-3C>T, XM_005253775.1:c.50-3C>T, XM_005253776.1:c.50-3C>T, XM_005253777.1:c.50-3C>T, XM_005253778.1:c.50-3C>T, XM_005253779.1:c.50-3C>T, XM_005253780.1:VOUS05/30/2014
2CACNA1CEx2NM_000719.6:c.53C>Tp.Ser18Phe | p.S18FLRG_334t1:c.53C>T, LRG_334t2:c.53C>T, LRG_334t3:c.53C>T, LRG_334t4:c.53C>T, NM_000719.6:c.53C>T, NM_001129827.1:c.53C>T, NM_001129829.1:c.53C>T, NM_001129830.1:c.53C>T, NM_001129831.1:c.53C>T, NM_001129832.1:c.53C>T, NM_001129833.1:c.53C>T, NM_001129834.1:c.53C>T, NM_001129835.1:c.53C>T, NM_001129836.1:c.53C>T, NM_001129837.1:c.53C>T, NM_001129838.1:c.53C>T, NM_001129839.1:c.53C>T, NM_001129840.1:c.53C>T, NM_001129841.1:c.53C>T, NM_001129842.1:c.53C>T, NM_001129843.1:c.53C>T, NM_001129844.1:c.53C>T, NM_001129846.1:c.53C>T, NM_001167623.1:c.53C>T, NM_001167624.1:c.53C>T, NM_001167625.1:c.53C>T, NM_199460.2:c.53C>T, XM_005253765.1:c.143C>T, XM_005253766.1:c.53C>T, XM_005253767.1:c.53C>T, XM_005253768.1:c.53C>T, XM_005253769.1:c.53C>T, XM_005253770.1:c.53C>T, XM_005253771.1:c.53C>T, XM_005253772.1:c.53C>T, XM_005253773.1:c.53C>T, XM_005253774.1:c.53C>T, XM_005253775.1:c.53C>T, XM_005253776.1:c.53C>T, XM_005253777.1:c.53C>T, XM_005253778.1:c.53C>T, XM_005253779.1:c.53C>T, XM_005253780.1:VOUS11/16/2017
3CACNA1CEx2NM_000719.6:c.71G>Ap.Arg24His | p.R24HVOUS03/08/2013
4CACNA1CEx2NM_000719.6:c.109G>Ap.Gly37Arg | p.G37RNM_000719.6:c.109G>A, NM_001129827.1:c.109G>A, NM_001129829.1:c.109G>A, NM_001129830.1:c.109G>A, NM_001129831.1:c.109G>A, NM_001129832.1:c.109G>A, NM_001129833.1:c.109G>A, NM_001129834.1:c.109G>A, NM_001129835.1:c.109G>A, NM_001129836.1:c.109G>A, NM_001129837.1:c.109G>A, NM_001129838.1:c.109G>A, NM_001129839.1:c.109G>A, NM_001129840.1:c.109G>A, NM_001129841.1:c.109G>A, NM_001129842.1:c.109G>A, NM_001129843.1:c.109G>A, NM_001129844.1:c.109G>A, NM_001129846.1:c.109G>A, NM_001167623.1:c.109G>A, NM_001167624.1:c.109G>A, NM_001167625.1:c.109G>A, NM_199460.2:c.109G>A, XM_005253765.1:c.199G>A, XM_005253766.1:c.109G>A, XM_005253767.1:c.109G>A, XM_005253768.1:c.109G>A, XM_005253769.1:c.109G>A, XM_005253770.1:c.109G>A, XM_005253771.1:c.109G>A, XM_005253772.1:c.109G>A, XM_005253773.1:c.109G>A, XM_005253774.1:c.109G>A, XM_005253775.1:c.109G>A, XM_005253776.1:c.109G>A, XM_005253777.1:c.109G>A, XM_005253778.1:c.109G>A, XM_005253779.1:c.109G>A, XM_005253780.1:c.109G>A, XM_005253781.1:c.109G>A, XM_0Likely benign07/16/2014 
5CACNA1CEx2NM_000719.6:c.171C>Tp.Asp57= | p.D57=NM_000719.6:c.171C>T, NM_001129827.1:c.171C>T, NM_001129829.1:c.171C>T, NM_001129830.1:c.171C>T, NM_001129831.1:c.171C>T, NM_001129832.1:c.171C>T, NM_001129833.1:c.171C>T, NM_001129834.1:c.171C>T, NM_001129835.1:c.171C>T, NM_001129836.1:c.171C>T, NM_001129837.1:c.171C>T, NM_001129838.1:c.171C>T, NM_001129839.1:c.171C>T, NM_001129840.1:c.171C>T, NM_001129841.1:c.171C>T, NM_001129842.1:c.171C>T, NM_001129843.1:c.171C>T, NM_001129844.1:c.171C>T, NM_001129846.1:c.171C>T, NM_001167623.1:c.171C>T, NM_001167624.1:c.171C>T, NM_001167625.1:c.171C>T, NM_199460.2:c.171C>TBenign01/03/2013 
6CACNA1CEx2NM_000719.6:c.242G>Ap.Arg81Gln | p.R81QNM_000719.6:c.242G>A, NM_001129827.1:c.242G>A, NM_001129829.1:c.242G>A, NM_001129830.1:c.242G>A, NM_001129831.1:c.242G>A, NM_001129832.1:c.242G>A, NM_001129833.1:c.242G>A, NM_001129834.1:c.242G>A, NM_001129835.1:c.242G>A, NM_001129836.1:c.242G>A, NM_001129837.1:c.242G>A, NM_001129838.1:c.242G>A, NM_001129839.1:c.242G>A, NM_001129840.1:c.242G>A, NM_001129841.1:c.242G>A, NM_001129842.1:c.242G>A, NM_001129843.1:c.242G>A, NM_001129844.1:c.242G>A, NM_001129846.1:c.242G>A, NM_001167623.1:c.242G>A, NM_001167624.1:c.242G>A, NM_001167625.1:c.242G>A, NM_199460.2:c.242G>A, XM_005253765.1:c.332G>A, XM_005253766.1:c.242G>A, XM_005253767.1:c.242G>A, XM_005253768.1:c.242G>A, XM_005253769.1:c.242G>A, XM_005253770.1:c.242G>A, XM_005253771.1:c.242G>A, XM_005253772.1:c.242G>A, XM_005253773.1:c.242G>A, XM_005253774.1:c.242G>A, XM_005253775.1:c.242G>A, XM_005253776.1:c.242G>A, XM_005253777.1:c.242G>A, XM_005253778.1:c.242G>A, XM_005253779.1:c.242G>A, XM_005253780.1:c.242G>A, XM_005253781.1:c.242G>A, XM_0VOUS06/23/2014
7CACNA1CEx2NM_000719.6:c.363C>Tp.Val121= | p.V121=NM_000719.6:c.363C>T, NM_001129827.1:c.363C>T, NM_001129829.1:c.363C>T, NM_001129830.1:c.363C>T, NM_001129831.1:c.363C>T, NM_001129832.1:c.363C>T, NM_001129833.1:c.363C>T, NM_001129834.1:c.363C>T, NM_001129835.1:c.363C>T, NM_001129836.1:c.363C>T, NM_001129837.1:c.363C>T, NM_001129838.1:c.363C>T, NM_001129839.1:c.363C>T, NM_001129840.1:c.363C>T, NM_001129841.1:c.363C>T, NM_001129842.1:c.363C>T, NM_001129843.1:c.363C>T, NM_001129844.1:c.363C>T, NM_001129846.1:c.363C>T, NM_001167623.1:c.363C>T, NM_001167624.1:c.363C>T, NM_001167625.1:c.363C>T, NM_199460.2:c.363C>T, XM_005253765.1:c.453C>T, XM_005253766.1:c.363C>T, XM_005253767.1:c.363C>T, XM_005253768.1:c.363C>T, XM_005253769.1:c.363C>T, XM_005253770.1:c.363C>T, XM_005253771.1:c.363C>T, XM_005253772.1:c.363C>T, XM_005253773.1:c.363C>T, XM_005253774.1:c.363C>T, XM_005253775.1:c.363C>T, XM_005253776.1:c.363C>T, XM_005253777.1:c.363C>T, XM_005253778.1:c.363C>T, XM_005253779.1:c.363C>T, XM_005253780.1:c.363C>T, XM_005253781.1:c.363C>T, XM_0VOUS08/06/2015
8CACNA1CEx4NM_000719.6:c.522G>Ap.Ala174= | p.A174=NM_000719.6:c.522G>A, NM_001129827.1:c.522G>A, NM_001129829.1:c.522G>A, NM_001129830.1:c.522G>A, NM_001129831.1:c.522G>A, NM_001129832.1:c.522G>A, NM_001129833.1:c.522G>A, NM_001129834.1:c.522G>A, NM_001129835.1:c.522G>A, NM_001129836.1:c.522G>A, NM_001129837.1:c.522G>A, NM_001129838.1:c.522G>A, NM_001129839.1:c.522G>A, NM_001129840.1:c.522G>A, NM_001129841.1:c.522G>A, NM_001129842.1:c.522G>A, NM_001129843.1:c.522G>A, NM_001129844.1:c.522G>A, NM_001129846.1:c.522G>A, NM_001167623.1:c.522G>A, NM_001167624.1:c.522G>A, NM_001167625.1:c.522G>A, NM_199460.2:c.522G>ABenign07/23/2013 
9CACNA1CEx4NM_000719.6:c.617+17G>ANM_000719.6:c.617+17G>A, NM_001129827.1:c.617+17G>A, NM_001129829.1:c.617+17G>A, NM_001129830.1:c.617+17G>A, NM_001129831.1:c.617+17G>A, NM_001129832.1:c.617+17G>A, NM_001129833.1:c.617+17G>A, NM_001129834.1:c.617+17G>A, NM_001129835.1:c.617+17G>A, NM_001129836.1:c.617+17G>A, NM_001129837.1:c.617+17G>A, NM_001129838.1:c.617+17G>A, NM_001129839.1:c.617+17G>A, NM_001129840.1:c.617+17G>A, NM_001129841.1:c.617+17G>A, NM_001129842.1:c.617+17G>A, NM_001129843.1:c.617+17G>A, NM_001129844.1:c.617+17G>A, NM_001129846.1:c.617+17G>A, NM_001167623.1:c.617+17G>A, NM_001167624.1:c.617+17G>A, NM_001167625.1:c.617+17G>A, NM_199460.2:c.617+17G>ABenign07/23/2013 
10CACNA1CEx4NM_000719.6:c.617+19T>CNM_000719.6:c.617+19T>C, NM_001129827.1:c.617+19T>C, NM_001129829.1:c.617+19T>C, NM_001129830.1:c.617+19T>C, NM_001129831.1:c.617+19T>C, NM_001129832.1:c.617+19T>C, NM_001129833.1:c.617+19T>C, NM_001129834.1:c.617+19T>C, NM_001129835.1:c.617+19T>C, NM_001129836.1:c.617+19T>C, NM_001129837.1:c.617+19T>C, NM_001129838.1:c.617+19T>C, NM_001129839.1:c.617+19T>C, NM_001129840.1:c.617+19T>C, NM_001129841.1:c.617+19T>C, NM_001129842.1:c.617+19T>C, NM_001129843.1:c.617+19T>C, NM_001129844.1:c.617+19T>C, NM_001129846.1:c.617+19T>C, NM_001167623.1:c.617+19T>C, NM_001167624.1:c.617+19T>C, NM_001167625.1:c.617+19T>C, NM_199460.2:c.617+19T>CBenign07/23/2013 
11CACNA1CEx5NM_000719.6:c.666C>Tp.Asn222= | p.N222=NM_000719.6:c.666C>T, NM_001129827.1:c.666C>T, NM_001129829.1:c.666C>T, NM_001129830.1:c.666C>T, NM_001129831.1:c.666C>T, NM_001129832.1:c.666C>T, NM_001129833.1:c.666C>T, NM_001129834.1:c.666C>T, NM_001129835.1:c.666C>T, NM_001129836.1:c.666C>T, NM_001129837.1:c.666C>T, NM_001129838.1:c.666C>T, NM_001129839.1:c.666C>T, NM_001129840.1:c.666C>T, NM_001129841.1:c.666C>T, NM_001129842.1:c.666C>T, NM_001129843.1:c.666C>T, NM_001129844.1:c.666C>T, NM_001129846.1:c.666C>T, NM_001167623.1:c.666C>T, NM_001167624.1:c.666C>T, NM_001167625.1:c.666C>T, NM_199460.2:c.666C>T, XM_005253765.1:c.756C>T, XM_005253766.1:c.675C>T, XM_005253767.1:c.675C>T, XM_005253768.1:c.675C>T, XM_005253769.1:c.675C>T, XM_005253770.1:c.675C>T, XM_005253771.1:c.675C>T, XM_005253772.1:c.675C>T, XM_005253773.1:c.675C>T, XM_005253774.1:c.675C>T, XM_005253775.1:c.675C>T, XM_005253776.1:c.675C>T, XM_005253777.1:c.675C>T, XM_005253778.1:c.675C>T, XM_005253779.1:c.675C>T, XM_005253780.1:c.675C>T, XM_005253781.1:c.675C>T, XM_0VOUS04/24/2015
12CACNA1CEx5NM_000719.6:c.724C>Tp.Leu242= | p.L242=LRG_334t1:c.724C>T, LRG_334t2:c.724C>T, LRG_334t3:c.724C>T, LRG_334t4:c.724C>T, NM_000719.6:c.724C>T, NM_001129827.1:c.724C>T, NM_001129829.1:c.724C>T, NM_001129830.1:c.724C>T, NM_001129831.1:c.724C>T, NM_001129832.1:c.724C>T, NM_001129833.1:c.724C>T, NM_001129834.1:c.724C>T, NM_001129835.1:c.724C>T, NM_001129836.1:c.724C>T, NM_001129837.1:c.724C>T, NM_001129838.1:c.724C>T, NM_001129839.1:c.724C>T, NM_001129840.1:c.724C>T, NM_001129841.1:c.724C>T, NM_001129842.1:c.724C>T, NM_001129843.1:c.724C>T, NM_001129844.1:c.724C>T, NM_001129846.1:c.724C>T, NM_001167623.1:c.724C>T, NM_001167624.1:c.724C>T, NM_001167625.1:c.724C>T, NM_199460.2:c.724C>T, XM_005253765.1:c.814C>T, XM_005253766.1:c.733C>T, XM_005253767.1:c.733C>T, XM_005253768.1:c.733C>T, XM_005253769.1:c.733C>T, XM_005253770.1:c.733C>T, XM_005253771.1:c.733C>T, XM_005253772.1:c.733C>T, XM_005253773.1:c.733C>T, XM_005253774.1:c.733C>T, XM_005253775.1:c.733C>T, XM_005253776.1:c.733C>T, XM_005253777.1:c.733C>T, XM_005253778.1:c.733C>T,VOUS08/01/2016
13CACNA1CEx6NM_000719.6:c.771C>Tp.Val257= | p.V257=NM_000719.6:c.771C>T, NM_001129827.1:c.771C>T, NM_001129829.1:c.771C>T, NM_001129830.1:c.771C>T, NM_001129831.1:c.771C>T, NM_001129832.1:c.771C>T, NM_001129833.1:c.771C>T, NM_001129834.1:c.771C>T, NM_001129835.1:c.771C>T, NM_001129836.1:c.771C>T, NM_001129837.1:c.771C>T, NM_001129838.1:c.771C>T, NM_001129839.1:c.771C>T, NM_001129840.1:c.771C>T, NM_001129841.1:c.771C>T, NM_001129842.1:c.771C>T, NM_001129843.1:c.771C>T, NM_001129844.1:c.771C>T, NM_001129846.1:c.771C>T, NM_001167623.1:c.771C>T, NM_001167624.1:c.771C>T, NM_001167625.1:c.771C>T, NM_199460.2:c.771C>TBenign07/23/2013 
14CACNA1CEx6NM_000719.6:c.911T>Cp.Ile304Thr | p.I304TNM_000719.6:c.911T>C, NM_001129827.1:c.911T>C, NM_001129829.1:c.911T>C, NM_001129830.1:c.911T>C, NM_001129831.1:c.911T>C, NM_001129832.1:c.911T>C, NM_001129833.1:c.911T>C, NM_001129834.1:c.911T>C, NM_001129835.1:c.911T>C, NM_001129836.1:c.911T>C, NM_001129837.1:c.911T>C, NM_001129838.1:c.911T>C, NM_001129839.1:c.911T>C, NM_001129840.1:c.911T>C, NM_001129841.1:c.911T>C, NM_001129842.1:c.911T>C, NM_001129843.1:c.911T>C, NM_001129844.1:c.911T>C, NM_001129846.1:c.911T>C, NM_001167623.1:c.911T>C, NM_001167624.1:c.911T>C, NM_001167625.1:c.911T>C, NM_199460.2:c.911T>C, XM_005253765.1:c.1001T>C, XM_005253766.1:c.920T>C, XM_005253767.1:c.920T>C, XM_005253768.1:c.920T>C, XM_005253769.1:c.920T>C, XM_005253770.1:c.920T>C, XM_005253771.1:c.920T>C, XM_005253772.1:c.920T>C, XM_005253773.1:c.920T>C, XM_005253774.1:c.920T>C, XM_005253775.1:c.920T>C, XM_005253776.1:c.920T>C, XM_005253777.1:c.920T>C, XM_005253778.1:c.920T>C, XM_005253779.1:c.920T>C, XM_005253780.1:c.920T>C, XM_005253781.1:c.920T>C, XM_VOUS09/11/2018
15CACNA1CEx7NM_000719.6:c.927A>Gp.Ala309= | p.A309=LRG_334t1:c.927A>G, LRG_334t2:c.927A>G, LRG_334t3:c.927A>G, LRG_334t4:c.927A>G, NM_000719.6:c.927A>G, NM_001129827.1:c.927A>G, NM_001129829.1:c.927A>G, NM_001129830.1:c.927A>G, NM_001129831.1:c.927A>G, NM_001129832.1:c.927A>G, NM_001129833.1:c.927A>G, NM_001129834.1:c.927A>G, NM_001129835.1:c.927A>G, NM_001129836.1:c.927A>G, NM_001129837.1:c.927A>G, NM_001129838.1:c.927A>G, NM_001129839.1:c.927A>G, NM_001129840.1:c.927A>G, NM_001129841.1:c.927A>G, NM_001129842.1:c.927A>G, NM_001129843.1:c.927A>G, NM_001129844.1:c.918A>G, NM_001129846.1:c.927A>G, NM_001167623.1:c.927A>G, NM_001167624.1:c.927A>G, NM_001167625.1:c.927A>G, NM_199460.2:c.927A>G, XM_005253765.1:c.1017A>G, XM_005253766.1:c.936A>G, XM_005253767.1:c.936A>G, XM_005253768.1:c.936A>G, XM_005253769.1:c.936A>G, XM_005253770.1:c.936A>G, XM_005253771.1:c.936A>G, XM_005253772.1:c.936A>G, XM_005253773.1:c.936A>G, XM_005253774.1:c.936A>G, XM_005253775.1:c.936A>G, XM_005253776.1:c.936A>G, XM_005253777.1:c.936A>G, XM_005253778.1:c.936A>GVOUS10/03/2017
16CACNA1CEx7NM_000719.6:c.1113+4C>TNM_000719.6:c.1113+4C>T, NM_001129827.1:c.1113+4C>T, NM_001129829.1:c.1113+4C>T, NM_001129830.1:c.1113+4C>T, NM_001129831.1:c.1113+4C>T, NM_001129832.1:c.1113+4C>T, NM_001129833.1:c.1113+4C>T, NM_001129834.1:c.1113+4C>T, NM_001129835.1:c.1113+4C>T, NM_001129836.1:c.1113+4C>T, NM_001129837.1:c.1113+4C>T, NM_001129838.1:c.1113+4C>T, NM_001129839.1:c.1113+4C>T, NM_001129840.1:c.1113+4C>T, NM_001129841.1:c.1113+4C>T, NM_001129842.1:c.1113+4C>T, NM_001129843.1:c.1113+4C>T, NM_001129844.1:c.1104+4C>T, NM_001129846.1:c.1113+4C>T, NM_001167623.1:c.1113+4C>T, NM_001167624.1:c.1113+4C>T, NM_001167625.1:c.1113+4C>T, NM_199460.2:c.1113+4C>T, XM_005253765.1:c.1203+4C>T, XM_005253766.1:c.1122+4C>T, XM_005253767.1:c.1122+4C>T, XM_005253768.1:c.1122+4C>T, XM_005253769.1:c.1122+4C>T, XM_005253770.1:c.1122+4C>T, XM_005253771.1:c.1122+4C>T, XM_005253772.1:c.1122+4C>T, XM_005253773.1:c.1122+4C>T, XM_005253774.1:c.1122+4C>T, XM_005253775.1:c.1122+4C>T, XM_005253776.1:c.1122+4C>T, XM_005253777.1:c.1122+4CVOUS07/07/2014
17CACNA1CEx8NM_000719.6:c.1176G>Tp.Gly392= | p.G392=LRG_334t1:c.1176G>T, LRG_334t2:c.1176G>T, LRG_334t3:c.1176G>T, LRG_334t4:c.1217+365G>T, NM_000719.6:c.1176G>T, NM_001129827.1:c.1176G>T, NM_001129829.1:c.1176G>T, NM_001129830.1:c.1176G>T, NM_001129831.1:c.1176G>T, NM_001129832.1:c.1176G>T, NM_001129833.1:c.1176G>T, NM_001129834.1:c.1176G>T, NM_001129835.1:c.1176G>T, NM_001129836.1:c.1176G>T, NM_001129837.1:c.1176G>T, NM_001129838.1:c.1176G>T, NM_001129839.1:c.1176G>T, NM_001129840.1:c.1217+365G>T, NM_001129841.1:c.1176G>T, NM_001129842.1:c.1176G>T, NM_001129843.1:c.1176G>T, NM_001129844.1:c.1167G>T, NM_001129846.1:c.1176G>T, NM_001167623.1:c.1217+365G>T, NM_001167624.1:c.1217+365G>T, NM_001167625.1:c.1217+365G>T, NM_199460.2:c.1176G>T, XM_005253765.1:c.1307+365G>T, XM_005253766.1:c.1185G>T, XM_005253767.1:c.1226+365G>T, XM_005253768.1:c.1185G>T, XM_005253769.1:c.1185G>T, XM_005253770.1:c.1185G>T, XM_005253771.1:c.1226+365G>T, XM_005253772.1:c.1185G>T, XM_005253773.1:c.1185G>T, XM_005253774.1:c.1185G>T, XM_005253775.1:c.1185G>T, XM_0Benign01/02/2018 
18CACNA1CEx9NM_000719.6:c.1218-6C>TNM_000719.6:c.1218-6C>T, NM_001129827.1:c.1218-6C>T, NM_001129829.1:c.1218-6C>T, NM_001129830.1:c.1218-6C>T, NM_001129831.1:c.1218-6C>T, NM_001129832.1:c.1218-6C>T, NM_001129833.1:c.1218-6C>T, NM_001129834.1:c.1218-6C>T, NM_001129835.1:c.1218-6C>T, NM_001129836.1:c.1218-6C>T, NM_001129837.1:c.1218-6C>T, NM_001129838.1:c.1218-6C>T, NM_001129839.1:c.1218-6C>T, NM_001129840.1:c.1218-6C>T, NM_001129841.1:c.1218-6C>T, NM_001129842.1:c.1218-6C>T, NM_001129843.1:c.1218-6C>T, NM_001129844.1:c.1209-6C>T, NM_001129846.1:c.1218-6C>T, NM_001167623.1:c.1218-6C>T, NM_001167624.1:c.1218-6C>T, NM_001167625.1:c.1218-6C>T, NM_199460.2:c.1218-6C>TVOUS12/13/2013
19CACNA1CEx9NM_000719.6:c.1253G>Cp.Arg418Pro | p.R418PNM_000719.6:c.1253G>C, NM_001129827.1:c.1253G>C, NM_001129829.1:c.1253G>C, NM_001129830.1:c.1253G>C, NM_001129831.1:c.1253G>C, NM_001129832.1:c.1253G>C, NM_001129833.1:c.1253G>C, NM_001129834.1:c.1253G>C, NM_001129835.1:c.1253G>C, NM_001129836.1:c.1253G>C, NM_001129837.1:c.1253G>C, NM_001129838.1:c.1253G>C, NM_001129839.1:c.1253G>C, NM_001129840.1:c.1253G>C, NM_001129841.1:c.1253G>C, NM_001129842.1:c.1253G>C, NM_001129843.1:c.1253G>C, NM_001129844.1:c.1244G>C, NM_001129846.1:c.1253G>C, NM_001167623.1:c.1253G>C, NM_001167624.1:c.1253G>C, NM_001167625.1:c.1253G>C, NM_199460.2:c.1253G>CVOUS11/11/2013
20CACNA1CEx9NM_000719.6:c.1341C>Tp.Ile447= | p.I447=NM_000719.6:c.1341C>T, NM_001129827.1:c.1341C>T, NM_001129829.1:c.1341C>T, NM_001129830.1:c.1341C>T, NM_001129831.1:c.1341C>T, NM_001129832.1:c.1341C>T, NM_001129833.1:c.1341C>T, NM_001129834.1:c.1341C>T, NM_001129835.1:c.1341C>T, NM_001129836.1:c.1341C>T, NM_001129837.1:c.1341C>T, NM_001129838.1:c.1341C>T, NM_001129839.1:c.1341C>T, NM_001129840.1:c.1341C>T, NM_001129841.1:c.1341C>T, NM_001129842.1:c.1341C>T, NM_001129843.1:c.1341C>T, NM_001129844.1:c.1332C>T, NM_001129846.1:c.1341C>T, NM_001167623.1:c.1341C>T, NM_001167624.1:c.1341C>T, NM_001167625.1:c.1341C>T, NM_199460.2:c.1341C>T, XM_005253765.1:c.1431C>T, XM_005253766.1:c.1350C>T, XM_005253767.1:c.1350C>T, XM_005253768.1:c.1350C>T, XM_005253769.1:c.1350C>T, XM_005253770.1:c.1350C>T, XM_005253771.1:c.1350C>T, XM_005253772.1:c.1350C>T, XM_005253773.1:c.1350C>T, XM_005253774.1:c.1350C>T, XM_005253775.1:c.1350C>T, XM_005253776.1:c.1350C>T, XM_005253777.1:c.1350C>T, XM_005253778.1:c.1350C>T, XM_005253779.1:c.1350C>T, XM_005253780.1:cVOUS07/30/2015
21CACNA1CEx9NM_000719.6:c.1359C>Tp.Asp453= | p.D453=NM_000719.6:c.1359C>T, NM_001129827.1:c.1359C>T, NM_001129829.1:c.1359C>T, NM_001129830.1:c.1359C>T, NM_001129831.1:c.1359C>T, NM_001129832.1:c.1359C>T, NM_001129833.1:c.1359C>T, NM_001129834.1:c.1359C>T, NM_001129835.1:c.1359C>T, NM_001129836.1:c.1359C>T, NM_001129837.1:c.1359C>T, NM_001129838.1:c.1359C>T, NM_001129839.1:c.1359C>T, NM_001129840.1:c.1359C>T, NM_001129841.1:c.1359C>T, NM_001129842.1:c.1359C>T, NM_001129843.1:c.1359C>T, NM_001129844.1:c.1350C>T, NM_001129846.1:c.1359C>T, NM_001167623.1:c.1359C>T, NM_001167624.1:c.1359C>T, NM_001167625.1:c.1359C>T, NM_199460.2:c.1359C>TVOUS08/08/2013
22CACNA1CEx9NM_000719.6:c.1385G>Ap.Arg462Gln | p.R462QNM_000719.6:c.1385G>A, NM_001129827.1:c.1385G>A, NM_001129829.1:c.1385G>A, NM_001129830.1:c.1385G>A, NM_001129831.1:c.1385G>A, NM_001129832.1:c.1385G>A, NM_001129833.1:c.1385G>A, NM_001129834.1:c.1385G>A, NM_001129835.1:c.1385G>A, NM_001129836.1:c.1385G>A, NM_001129837.1:c.1385G>A, NM_001129838.1:c.1385G>A, NM_001129839.1:c.1385G>A, NM_001129840.1:c.1385G>A, NM_001129841.1:c.1385G>A, NM_001129842.1:c.1385G>A, NM_001129843.1:c.1385G>A, NM_001129844.1:c.1376G>A, NM_001129846.1:c.1385G>A, NM_001167623.1:c.1385G>A, NM_001167624.1:c.1385G>A, NM_001167625.1:c.1385G>A, NM_199460.2:c.1385G>A, XM_005253765.1:c.1475G>A, XM_005253766.1:c.1394G>A, XM_005253767.1:c.1394G>A, XM_005253768.1:c.1394G>A, XM_005253769.1:c.1394G>A, XM_005253770.1:c.1394G>A, XM_005253771.1:c.1394G>A, XM_005253772.1:c.1394G>A, XM_005253773.1:c.1394G>A, XM_005253774.1:c.1394G>A, XM_005253775.1:c.1394G>A, XM_005253776.1:c.1394G>A, XM_005253777.1:c.1394G>A, XM_005253778.1:c.1394G>A, XM_005253779.1:c.1394G>A, XM_005253780.1:cVOUS03/04/2015
23CACNA1CEx10NM_000719.6:c.1468G>Ap.Gly490Arg | p.G490RNM_000719.6:c.1468G>A, NM_001129827.1:c.1468G>A, NM_001129829.1:c.1468G>A, NM_001129830.1:c.1468G>A, NM_001129831.1:c.1468G>A, NM_001129832.1:c.1468G>A, NM_001129833.1:c.1468G>A, NM_001129834.1:c.1468G>A, NM_001129835.1:c.1468G>A, NM_001129836.1:c.1468G>A, NM_001129837.1:c.1468G>A, NM_001129838.1:c.1468G>A, NM_001129839.1:c.1468G>A, NM_001129840.1:c.1468G>A, NM_001129841.1:c.1468G>A, NM_001129842.1:c.1468G>A, NM_001129843.1:c.1468G>A, NM_001129844.1:c.1459G>A, NM_001129846.1:c.1468G>A, NM_001167623.1:c.1468G>A, NM_001167624.1:c.1468G>A, NM_001167625.1:c.1468G>A, NM_199460.2:c.1468G>AVOUS08/26/2015
24CACNA1CEx12NM_000719.6:c.1554C>Tp.Arg518= | p.R518=NM_000719.6:c.1554C>T, NM_001129827.1:c.1554C>T, NM_001129829.1:c.1554C>T, NM_001129830.1:c.1554C>T, NM_001129831.1:c.1554C>T, NM_001129832.1:c.1554C>T, NM_001129833.1:c.1554C>T, NM_001129834.1:c.1554C>T, NM_001129835.1:c.1554C>T, NM_001129836.1:c.1554C>T, NM_001129837.1:c.1554C>T, NM_001129838.1:c.1554C>T, NM_001129839.1:c.1554C>T, NM_001129840.1:c.1554C>T, NM_001129841.1:c.1554C>T, NM_001129842.1:c.1554C>T, NM_001129843.1:c.1554C>T, NM_001129844.1:c.1545C>T, NM_001129846.1:c.1554C>T, NM_001167623.1:c.1554C>T, NM_001167624.1:c.1554C>T, NM_001167625.1:c.1554C>T, NM_199460.2:c.1554C>TVOUS10/21/2013
25CACNA1CEx13NM_000719.6:c.1707A>Gp.Ala569= | p.A569=NM_000719.6:c.1707A>G, NM_001129827.1:c.1707A>G, NM_001129829.1:c.1707A>G, NM_001129830.1:c.1707A>G, NM_001129831.1:c.1707A>G, NM_001129832.1:c.1707A>G, NM_001129833.1:c.1707A>G, NM_001129834.1:c.1707A>G, NM_001129835.1:c.1707A>G, NM_001129836.1:c.1707A>G, NM_001129837.1:c.1707A>G, NM_001129838.1:c.1707A>G, NM_001129839.1:c.1707A>G, NM_001129840.1:c.1707A>G, NM_001129841.1:c.1707A>G, NM_001129842.1:c.1707A>G, NM_001129843.1:c.1707A>G, NM_001129844.1:c.1698A>G, NM_001129846.1:c.1707A>G, NM_001167623.1:c.1707A>G, NM_001167624.1:c.1707A>G, NM_001167625.1:c.1707A>G, NM_199460.2:c.1707A>G, XM_005253765.1:c.1917A>G, XM_005253766.1:c.1716A>G, XM_005253767.1:c.1716A>G, XM_005253768.1:c.1716A>G, XM_005253769.1:c.1716A>G, XM_005253770.1:c.1716A>G, XM_005253771.1:c.1716A>G, XM_005253772.1:c.1716A>G, XM_005253773.1:c.1716A>G, XM_005253774.1:c.1716A>G, XM_005253775.1:c.1716A>G, XM_005253776.1:c.1716A>G, XM_005253777.1:c.1716A>G, XM_005253778.1:c.1716A>G, XM_005253779.1:c.1716A>G, XM_005253780.1:cVOUS01/30/2015
26CACNA1CEx13NM_000719.6:c.1752C>Tp.Phe584= | p.F584=LRG_334t1:c.1752C>T, LRG_334t2:c.1752C>T, LRG_334t3:c.1752C>T, LRG_334t4:c.1752C>T, NM_000719.6:c.1752C>T, NM_001129827.1:c.1752C>T, NM_001129829.1:c.1752C>T, NM_001129830.1:c.1752C>T, NM_001129831.1:c.1752C>T, NM_001129832.1:c.1752C>T, NM_001129833.1:c.1752C>T, NM_001129834.1:c.1752C>T, NM_001129835.1:c.1752C>T, NM_001129836.1:c.1752C>T, NM_001129837.1:c.1752C>T, NM_001129838.1:c.1752C>T, NM_001129839.1:c.1752C>T, NM_001129840.1:c.1752C>T, NM_001129841.1:c.1752C>T, NM_001129842.1:c.1752C>T, NM_001129843.1:c.1752C>T, NM_001129844.1:c.1743C>T, NM_001129846.1:c.1752C>T, NM_001167623.1:c.1752C>T, NM_001167624.1:c.1752C>T, NM_001167625.1:c.1752C>T, NM_199460.2:c.1752C>T, XM_005253765.1:c.1962C>T, XM_005253766.1:c.1761C>T, XM_005253767.1:c.1761C>T, XM_005253768.1:c.1761C>T, XM_005253769.1:c.1761C>T, XM_005253770.1:c.1761C>T, XM_005253771.1:c.1761C>T, XM_005253772.1:c.1761C>T, XM_005253773.1:c.1761C>T, XM_005253774.1:c.1761C>T, XM_005253775.1:c.1761C>T, XM_005253776.1:c.1761C>T, XM_0052537VOUS04/20/2016
27CACNA1CEx14NM_000719.6:c.2068G>Ap.Asp690Asn | p.D690NNM_000719.6:c.2068G>A, NM_001129827.1:c.2068G>A, NM_001129829.1:c.2068G>A, NM_001129830.1:c.2068G>A, NM_001129831.1:c.2068G>A, NM_001129832.1:c.2068G>A, NM_001129833.1:c.2068G>A, NM_001129834.1:c.2068G>A, NM_001129835.1:c.2068G>A, NM_001129836.1:c.2068G>A, NM_001129837.1:c.2068G>A, NM_001129838.1:c.2068G>A, NM_001129839.1:c.2068G>A, NM_001129840.1:c.2068G>A, NM_001129841.1:c.2068G>A, NM_001129842.1:c.2068G>A, NM_001129843.1:c.2068G>A, NM_001129844.1:c.2059G>A, NM_001129846.1:c.2068G>A, NM_001167623.1:c.2068G>A, NM_001167624.1:c.2068G>A, NM_001167625.1:c.2068G>A, NM_199460.2:c.2068G>A, XM_005253765.1:c.2278G>A, XM_005253766.1:c.2077G>A, XM_005253767.1:c.2077G>A, XM_005253768.1:c.2077G>A, XM_005253769.1:c.2077G>A, XM_005253770.1:c.2077G>A, XM_005253771.1:c.2077G>A, XM_005253772.1:c.2077G>A, XM_005253773.1:c.2077G>A, XM_005253774.1:c.2077G>A, XM_005253775.1:c.2077G>A, XM_005253776.1:c.2077G>A, XM_005253777.1:c.2077G>A, XM_005253778.1:c.2077G>A, XM_005253779.1:c.2077G>A, XM_005253780.1:cVOUS11/18/2014
28CACNA1CEx14NM_000719.6:c.2073C>Tp.Asn691= | p.N691=NM_000719.6:c.2073C>T, NM_001129827.1:c.2073C>T, NM_001129829.1:c.2073C>T, NM_001129830.1:c.2073C>T, NM_001129831.1:c.2073C>T, NM_001129832.1:c.2073C>T, NM_001129833.1:c.2073C>T, NM_001129834.1:c.2073C>T, NM_001129835.1:c.2073C>T, NM_001129836.1:c.2073C>T, NM_001129837.1:c.2073C>T, NM_001129838.1:c.2073C>T, NM_001129839.1:c.2073C>T, NM_001129840.1:c.2073C>T, NM_001129841.1:c.2073C>T, NM_001129842.1:c.2073C>T, NM_001129843.1:c.2073C>T, NM_001129844.1:c.2064C>T, NM_001129846.1:c.2073C>T, NM_001167623.1:c.2073C>T, NM_001167624.1:c.2073C>T, NM_001167625.1:c.2073C>T, NM_199460.2:c.2073C>T, XM_005253765.1:c.2283C>T, XM_005253766.1:c.2082C>T, XM_005253767.1:c.2082C>T, XM_005253768.1:c.2082C>T, XM_005253769.1:c.2082C>T, XM_005253770.1:c.2082C>T, XM_005253771.1:c.2082C>T, XM_005253772.1:c.2082C>T, XM_005253773.1:c.2082C>T, XM_005253774.1:c.2082C>T, XM_005253775.1:c.2082C>T, XM_005253776.1:c.2082C>T, XM_005253777.1:c.2082C>T, XM_005253778.1:c.2082C>T, XM_005253779.1:c.2082C>T, XM_005253780.1:cVOUS07/07/2014
29CACNA1CEx16NM_000719.6:c.2234T>Cp.Leu745Pro | p.L745PNM_000719.6:c.2234T>C, NM_001129827.1:c.2234T>C, NM_001129829.1:c.2234T>C, NM_001129830.1:c.2234T>C, NM_001129831.1:c.2234T>C, NM_001129832.1:c.2234T>C, NM_001129833.1:c.2234T>C, NM_001129834.1:c.2234T>C, NM_001129835.1:c.2234T>C, NM_001129836.1:c.2234T>C, NM_001129837.1:c.2234T>C, NM_001129838.1:c.2234T>C, NM_001129839.1:c.2234T>C, NM_001129840.1:c.2234T>C, NM_001129841.1:c.2234T>C, NM_001129842.1:c.2234T>C, NM_001129843.1:c.2234T>C, NM_001129844.1:c.2225T>C, NM_001129846.1:c.2234T>C, NM_001167623.1:c.2234T>C, NM_001167624.1:c.2234T>C, NM_001167625.1:c.2234T>C, NM_199460.2:c.2234T>CVOUS08/16/2013
30CACNA1CEx16NM_000719.6:c.2251A>Gp.Ile751Val | p.I751VNM_000719.6:c.2251A>G, NM_001129827.1:c.2251A>G, NM_001129829.1:c.2251A>G, NM_001129830.1:c.2251A>G, NM_001129831.1:c.2251A>G, NM_001129832.1:c.2251A>G, NM_001129833.1:c.2251A>G, NM_001129834.1:c.2251A>G, NM_001129835.1:c.2251A>G, NM_001129836.1:c.2251A>G, NM_001129837.1:c.2251A>G, NM_001129838.1:c.2251A>G, NM_001129839.1:c.2251A>G, NM_001129840.1:c.2251A>G, NM_001129841.1:c.2251A>G, NM_001129842.1:c.2251A>G, NM_001129843.1:c.2251A>G, NM_001129844.1:c.2242A>G, NM_001129846.1:c.2251A>G, NM_001167623.1:c.2251A>G, NM_001167624.1:c.2251A>G, NM_001167625.1:c.2251A>G, NM_199460.2:c.2251A>G, XM_005253765.1:c.2461A>G, XM_005253766.1:c.2260A>G, XM_005253767.1:c.2260A>G, XM_005253768.1:c.2260A>G, XM_005253769.1:c.2260A>G, XM_005253770.1:c.2260A>G, XM_005253771.1:c.2260A>G, XM_005253772.1:c.2260A>G, XM_005253773.1:c.2260A>G, XM_005253774.1:c.2260A>G, XM_005253775.1:c.2260A>G, XM_005253776.1:c.2260A>G, XM_005253777.1:c.2260A>G, XM_005253778.1:c.2260A>G, XM_005253779.1:c.2260A>G, XM_005253780.1:cVOUS05/23/2014
31CACNA1CEx16NM_000719.6:c.2280G>Ap.Glu760= | p.E760=LRG_334t1:c.2280G>A, LRG_334t2:c.2280G>A, LRG_334t3:c.2280G>A, LRG_334t4:c.2280G>A, NM_000719.6:c.2280G>A, NM_001129827.1:c.2280G>A, NM_001129829.1:c.2280G>A, NM_001129830.1:c.2280G>A, NM_001129831.1:c.2280G>A, NM_001129832.1:c.2280G>A, NM_001129833.1:c.2280G>A, NM_001129834.1:c.2280G>A, NM_001129835.1:c.2280G>A, NM_001129836.1:c.2280G>A, NM_001129837.1:c.2280G>A, NM_001129838.1:c.2280G>A, NM_001129839.1:c.2280G>A, NM_001129840.1:c.2280G>A, NM_001129841.1:c.2280G>A, NM_001129842.1:c.2280G>A, NM_001129843.1:c.2280G>A, NM_001129844.1:c.2271G>A, NM_001129846.1:c.2280G>A, NM_001167623.1:c.2280G>A, NM_001167624.1:c.2280G>A, NM_001167625.1:c.2280G>A, NM_199460.2:c.2280G>A, XM_005253765.1:c.2490G>A, XM_005253766.1:c.2289G>A, XM_005253767.1:c.2289G>A, XM_005253768.1:c.2289G>A, XM_005253769.1:c.2289G>A, XM_005253770.1:c.2289G>A, XM_005253771.1:c.2289G>A, XM_005253772.1:c.2289G>A, XM_005253773.1:c.2289G>A, XM_005253774.1:c.2289G>A, XM_005253775.1:c.2289G>A, XM_005253776.1:c.2289G>A, XM_0052537VOUS09/26/2012
32CACNA1CEx17NM_000719.6:c.2391G>Ap.Gly797= | p.G797=LRG_334t1:c.2391G>A, LRG_334t2:c.2391G>A, LRG_334t3:c.2391G>A, LRG_334t4:c.2391G>A, NM_000719.6:c.2391G>A, NM_001129827.1:c.2391G>A, NM_001129829.1:c.2391G>A, NM_001129830.1:c.2391G>A, NM_001129831.1:c.2391G>A, NM_001129832.1:c.2391G>A, NM_001129833.1:c.2391G>A, NM_001129834.1:c.2391G>A, NM_001129835.1:c.2391G>A, NM_001129836.1:c.2391G>A, NM_001129837.1:c.2391G>A, NM_001129838.1:c.2391G>A, NM_001129839.1:c.2391G>A, NM_001129840.1:c.2391G>A, NM_001129841.1:c.2391G>A, NM_001129842.1:c.2391G>A, NM_001129843.1:c.2391G>A, NM_001129844.1:c.2382G>A, NM_001129846.1:c.2391G>A, NM_001167623.1:c.2391G>A, NM_001167624.1:c.2391G>A, NM_001167625.1:c.2391G>A, NM_199460.2:c.2391G>A, XM_005253765.1:c.2601G>A, XM_005253766.1:c.2400G>A, XM_005253767.1:c.2400G>A, XM_005253768.1:c.2400G>A, XM_005253769.1:c.2400G>A, XM_005253770.1:c.2400G>A, XM_005253771.1:c.2400G>A, XM_005253772.1:c.2400G>A, XM_005253773.1:c.2400G>A, XM_005253774.1:c.2400G>A, XM_005253775.1:c.2400G>A, XM_005253776.1:c.2400G>A, XM_0052537VOUS03/31/2016
33CACNA1CEx17NM_000719.6:c.2396C>Ap.Ser799Tyr | p.S799YNM_000719.6:c.2396C>A, NM_001129827.1:c.2396C>A, NM_001129829.1:c.2396C>A, NM_001129830.1:c.2396C>A, NM_001129831.1:c.2396C>A, NM_001129832.1:c.2396C>A, NM_001129833.1:c.2396C>A, NM_001129834.1:c.2396C>A, NM_001129835.1:c.2396C>A, NM_001129836.1:c.2396C>A, NM_001129837.1:c.2396C>A, NM_001129838.1:c.2396C>A, NM_001129839.1:c.2396C>A, NM_001129840.1:c.2396C>A, NM_001129841.1:c.2396C>A, NM_001129842.1:c.2396C>A, NM_001129843.1:c.2396C>A, NM_001129844.1:c.2387C>A, NM_001129846.1:c.2396C>A, NM_001167623.1:c.2396C>A, NM_001167624.1:c.2396C>A, NM_001167625.1:c.2396C>A, NM_199460.2:c.2396C>A, XM_005253765.1:c.2606C>A, XM_005253766.1:c.2405C>A, XM_005253767.1:c.2405C>A, XM_005253768.1:c.2405C>A, XM_005253769.1:c.2405C>A, XM_005253770.1:c.2405C>A, XM_005253771.1:c.2405C>A, XM_005253772.1:c.2405C>A, XM_005253773.1:c.2405C>A, XM_005253774.1:c.2405C>A, XM_005253775.1:c.2405C>A, XM_005253776.1:c.2405C>A, XM_005253777.1:c.2405C>A, XM_005253778.1:c.2405C>A, XM_005253779.1:c.2405C>A, XM_005253780.1:cVOUS02/14/2013
34CACNA1CEx17NM_000719.6:c.2436C>Tp.Asp812= | p.D812=LRG_334t1:c.2436C>T, LRG_334t2:c.2436C>T, LRG_334t3:c.2436C>T, LRG_334t4:c.2436C>T, NM_000719.6:c.2436C>T, NM_001129827.1:c.2436C>T, NM_001129829.1:c.2436C>T, NM_001129830.1:c.2436C>T, NM_001129831.1:c.2436C>T, NM_001129832.1:c.2436C>T, NM_001129833.1:c.2436C>T, NM_001129834.1:c.2436C>T, NM_001129835.1:c.2436C>T, NM_001129836.1:c.2436C>T, NM_001129837.1:c.2436C>T, NM_001129838.1:c.2436C>T, NM_001129839.1:c.2436C>T, NM_001129840.1:c.2436C>T, NM_001129841.1:c.2436C>T, NM_001129842.1:c.2436C>T, NM_001129843.1:c.2436C>T, NM_001129844.1:c.2427C>T, NM_001129846.1:c.2436C>T, NM_001167623.1:c.2436C>T, NM_001167624.1:c.2436C>T, NM_001167625.1:c.2436C>T, NM_199460.2:c.2436C>T, XM_005253765.1:c.2646C>T, XM_005253766.1:c.2445C>T, XM_005253767.1:c.2445C>T, XM_005253768.1:c.2445C>T, XM_005253769.1:c.2445C>T, XM_005253770.1:c.2445C>T, XM_005253771.1:c.2445C>T, XM_005253772.1:c.2445C>T, XM_005253773.1:c.2445C>T, XM_005253774.1:c.2445C>T, XM_005253775.1:c.2445C>T, XM_005253776.1:c.2445C>T, XM_0052537Benign01/04/2013 
35CACNA1CEx17NM_000719.6:c.2449C>Tp.Pro817Ser | p.P817SLRG_334t1:c.2449C>T, LRG_334t2:c.2449C>T, LRG_334t3:c.2449C>T, LRG_334t4:c.2449C>T, NM_000719.6:c.2449C>T, NM_001129827.1:c.2449C>T, NM_001129829.1:c.2449C>T, NM_001129830.1:c.2449C>T, NM_001129831.1:c.2449C>T, NM_001129832.1:c.2449C>T, NM_001129833.1:c.2449C>T, NM_001129834.1:c.2449C>T, NM_001129835.1:c.2449C>T, NM_001129836.1:c.2449C>T, NM_001129837.1:c.2449C>T, NM_001129838.1:c.2449C>T, NM_001129839.1:c.2449C>T, NM_001129840.1:c.2449C>T, NM_001129841.1:c.2449C>T, NM_001129842.1:c.2449C>T, NM_001129843.1:c.2449C>T, NM_001129844.1:c.2440C>T, NM_001129846.1:c.2449C>T, NM_001167623.1:c.2449C>T, NM_001167624.1:c.2449C>T, NM_001167625.1:c.2449C>T, NM_199460.2:c.2449C>T, XM_005253765.1:c.2659C>T, XM_005253766.1:c.2458C>T, XM_005253767.1:c.2458C>T, XM_005253768.1:c.2458C>T, XM_005253769.1:c.2458C>T, XM_005253770.1:c.2458C>T, XM_005253771.1:c.2458C>T, XM_005253772.1:c.2458C>T, XM_005253773.1:c.2458C>T, XM_005253774.1:c.2458C>T, XM_005253775.1:c.2458C>T, XM_005253776.1:c.2458C>T, XM_0052537Likely benign10/17/2016 
36CACNA1CEx19NM_000719.6:c.2548_2550delGAGNM_000719.6:c.2548_2550delGAG, NM_001129827.1:c.2548_2550delGAG, NM_001129829.1:c.2548_2550delGAG, NM_001129830.1:c.2548_2550delGAG, NM_001129831.1:c.2548_2550delGAG, NM_001129832.1:c.2548_2550delGAG, NM_001129833.1:c.2548_2550delGAG, NM_001129834.1:c.2548_2550delGAG, NM_001129835.1:c.2548_2550delGAG, NM_001129836.1:c.2548_2550delGAG, NM_001129837.1:c.2548_2550delGAG, NM_001129838.1:c.2548_2550delGAG, NM_001129839.1:c.2548_2550delGAG, NM_001129840.1:c.2548_2550delGAG, NM_001129841.1:c.2548_2550delGAG, NM_001129842.1:c.2548_2550delGAG, NM_001129843.1:c.2548_2550delGAG, NM_001129844.1:c.2539_2541delGAG, NM_001129846.1:c.2548_2550delGAG, NM_001167623.1:c.2548_2550delGAG, NM_001167624.1:c.2548_2550delGAG, NM_001167625.1:c.2548_2550delGAG, NM_199460.2:c.2548_2550delGAG, XM_005253765.1:c.2758_2760delGAG, XM_005253766.1:c.2557_2559delGAG, XM_005253767.1:c.2557_2559delGAG, XM_005253768.1:c.2557_2559delGAG, XM_005253769.1:c.2557_2559delGAG, XM_005253770.1:c.2557_2559delGAG, XM_005253771.1:c.2VOUS06/03/2016
37CACNA1CEx20NM_000719.6:c.2766G>Ap.Pro922= | p.P922=NM_000719.6:c.2766G>A, NM_001129827.1:c.2766G>A, NM_001129829.1:c.2766G>A, NM_001129830.1:c.2766G>A, NM_001129831.1:c.2766G>A, NM_001129832.1:c.2766G>A, NM_001129833.1:c.2766G>A, NM_001129834.1:c.2766G>A, NM_001129835.1:c.2766G>A, NM_001129836.1:c.2766G>A, NM_001129837.1:c.2766G>A, NM_001129838.1:c.2766G>A, NM_001129839.1:c.2766G>A, NM_001129840.1:c.2766G>A, NM_001129841.1:c.2766G>A, NM_001129842.1:c.2766G>A, NM_001129843.1:c.2766G>A, NM_001129844.1:c.2757G>A, NM_001129846.1:c.2766G>A, NM_001167623.1:c.2766G>A, NM_001167624.1:c.2766G>A, NM_001167625.1:c.2766G>A, NM_199460.2:c.2766G>A, XM_005253765.1:c.2976G>A, XM_005253766.1:c.2775G>A, XM_005253767.1:c.2775G>A, XM_005253768.1:c.2775G>A, XM_005253769.1:c.2775G>A, XM_005253770.1:c.2775G>A, XM_005253771.1:c.2775G>A, XM_005253772.1:c.2775G>A, XM_005253773.1:c.2775G>A, XM_005253774.1:c.2775G>A, XM_005253775.1:c.2775G>A, XM_005253776.1:c.2775G>A, XM_005253777.1:c.2775G>A, XM_005253778.1:c.2775G>A, XM_005253779.1:c.2775G>A, XM_005253780.1:cVOUS04/03/2015
38CACNA1CEx24NM_000719.6:c.3049-10C>TNM_000719.6:c.3049-10C>T, NM_001129827.1:c.3109-10C>T, NM_001129829.1:c.3049-10C>T, NM_001129830.1:c.3049-10C>T, NM_001129831.1:c.3049-10C>T, NM_001129832.1:c.3109-10C>T, NM_001129833.1:c.3049-10C>T, NM_001129834.1:c.3049-10C>T, NM_001129835.1:c.3049-10C>T, NM_001129836.1:c.3049-10C>T, NM_001129837.1:c.3049-10C>T, NM_001129838.1:c.3049-10C>T, NM_001129839.1:c.3049-10C>T, NM_001129840.1:c.3049-10C>T, NM_001129841.1:c.3049-10C>T, NM_001129842.1:c.3049-10C>T, NM_001129843.1:c.3049-10C>T, NM_001129844.1:c.3040-10C>T, NM_001129846.1:c.3049-10C>T, NM_001167623.1:c.3049-10C>T, NM_001167624.1:c.3049-10C>T, NM_001167625.1:c.3049-10C>T, NM_199460.2:c.3109-10C>T, XM_005253765.1:c.3259-10C>T, XM_005253766.1:c.3118-10C>T, XM_005253767.1:c.3058-10C>T, XM_005253768.1:c.3118-10C>T, XM_005253769.1:c.3058-10C>T, XM_005253770.1:c.3058-10C>T, XM_005253771.1:c.3058-10C>T, XM_005253772.1:c.3058-10C>T, XM_005253773.1:c.3118-10C>T, XM_005253774.1:c.3058-10C>T, XM_005253775.1:c.3058-10C>T, XM_005253776.1:c.3VOUS11/03/2014
39CACNA1CEx24NM_000719.6:c.3156+6G>CNM_000719.6:c.3156+6G>C, NM_001129827.1:c.3216+6G>C, NM_001129829.1:c.3156+6G>C, NM_001129830.1:c.3156+6G>C, NM_001129831.1:c.3156+6G>C, NM_001129832.1:c.3216+6G>C, NM_001129833.1:c.3156+6G>C, NM_001129834.1:c.3156+6G>C, NM_001129835.1:c.3156+6G>C, NM_001129836.1:c.3156+6G>C, NM_001129837.1:c.3156+6G>C, NM_001129838.1:c.3156+6G>C, NM_001129839.1:c.3156+6G>C, NM_001129840.1:c.3156+6G>C, NM_001129841.1:c.3156+6G>C, NM_001129842.1:c.3156+6G>C, NM_001129843.1:c.3156+6G>C, NM_001129844.1:c.3147+6G>C, NM_001129846.1:c.3156+6G>C, NM_001167623.1:c.3156+6G>C, NM_001167624.1:c.3156+6G>C, NM_001167625.1:c.3156+6G>C, NM_199460.2:c.3216+6G>CVOUS06/21/2013
40CACNA1CEx26NM_000719.6:c.3234C>Tp.Asp1078= | p.D1078=NM_000719.6:c.3234C>T, NM_001129827.1:c.3294C>T, NM_001129829.1:c.3234C>T, NM_001129830.1:c.3234C>T, NM_001129831.1:c.3234C>T, NM_001129832.1:c.3294C>T, NM_001129833.1:c.3234C>T, NM_001129834.1:c.3234C>T, NM_001129835.1:c.3234C>T, NM_001129836.1:c.3234C>T, NM_001129837.1:c.3234C>T, NM_001129838.1:c.3234C>T, NM_001129839.1:c.3234C>T, NM_001129840.1:c.3234C>T, NM_001129841.1:c.3234C>T, NM_001129842.1:c.3234C>T, NM_001129843.1:c.3234C>T, NM_001129844.1:c.3225C>T, NM_001129846.1:c.3234C>T, NM_001167623.1:c.3234C>T, NM_001167624.1:c.3234C>T, NM_001167625.1:c.3234C>T, NM_199460.2:c.3294C>T, XM_005253765.1:c.3444C>T, XM_005253766.1:c.3303C>T, XM_005253767.1:c.3243C>T, XM_005253768.1:c.3303C>T, XM_005253769.1:c.3243C>T, XM_005253770.1:c.3243C>T, XM_005253771.1:c.3243C>T, XM_005253772.1:c.3243C>T, XM_005253773.1:c.3303C>T, XM_005253774.1:c.3243C>T, XM_005253775.1:c.3243C>T, XM_005253776.1:c.3243C>T, XM_005253777.1:c.3243C>T, XM_005253778.1:c.3243C>T, XM_005253779.1:c.3243C>T, XM_005253780.1:cVOUS03/09/2015
41CACNA1CEx27NM_000719.6:c.3373A>Gp.Ile1125Val | p.I1125VNM_000719.6:c.3373A>G, NM_001129827.1:c.3433A>G, NM_001129829.1:c.3373A>G, NM_001129830.1:c.3373A>G, NM_001129831.1:c.3373A>G, NM_001129832.1:c.3433A>G, NM_001129833.1:c.3373A>G, NM_001129834.1:c.3373A>G, NM_001129835.1:c.3373A>G, NM_001129836.1:c.3373A>G, NM_001129837.1:c.3373A>G, NM_001129838.1:c.3373A>G, NM_001129839.1:c.3373A>G, NM_001129840.1:c.3373A>G, NM_001129841.1:c.3373A>G, NM_001129842.1:c.3373A>G, NM_001129843.1:c.3373A>G, NM_001129844.1:c.3364A>G, NM_001129846.1:c.3373A>G, NM_001167623.1:c.3373A>G, NM_001167624.1:c.3373A>G, NM_001167625.1:c.3373A>G, NM_199460.2:c.3433A>GVOUS03/31/2014
42CACNA1CEx27NM_000719.6:c.3375C>Tp.Ile1125= | p.I1125=VOUS11/30/2012
43CACNA1CEx27NM_000719.6:c.3387G>Ap.Thr1129= | p.T1129=NM_000719.6:c.3387G>A, NM_001129827.1:c.3447G>A, NM_001129829.1:c.3387G>A, NM_001129830.1:c.3387G>A, NM_001129831.1:c.3387G>A, NM_001129832.1:c.3447G>A, NM_001129833.1:c.3387G>A, NM_001129834.1:c.3387G>A, NM_001129835.1:c.3387G>A, NM_001129836.1:c.3387G>A, NM_001129837.1:c.3387G>A, NM_001129838.1:c.3387G>A, NM_001129839.1:c.3387G>A, NM_001129840.1:c.3387G>A, NM_001129841.1:c.3387G>A, NM_001129842.1:c.3387G>A, NM_001129843.1:c.3387G>A, NM_001129844.1:c.3378G>A, NM_001129846.1:c.3387G>A, NM_001167623.1:c.3387G>A, NM_001167624.1:c.3387G>A, NM_001167625.1:c.3387G>A, NM_199460.2:c.3447G>A, XM_005253765.1:c.3597G>A, XM_005253766.1:c.3456G>A, XM_005253767.1:c.3396G>A, XM_005253768.1:c.3456G>A, XM_005253769.1:c.3396G>A, XM_005253770.1:c.3396G>A, XM_005253771.1:c.3396G>A, XM_005253772.1:c.3396G>A, XM_005253773.1:c.3456G>A, XM_005253774.1:c.3396G>A, XM_005253775.1:c.3396G>A, XM_005253776.1:c.3396G>A, XM_005253777.1:c.3396G>A, XM_005253778.1:c.3396G>A, XM_005253779.1:c.3396G>A, XM_005253780.1:cBenign11/09/2015 
44CACNA1CEx27NM_000719.6:c.3531C>Tp.Tyr1177= | p.Y1177=NM_000719.6:c.3531C>T, NM_001129827.1:c.3591C>T, NM_001129829.1:c.3531C>T, NM_001129830.1:c.3531C>T, NM_001129831.1:c.3531C>T, NM_001129832.1:c.3591C>T, NM_001129833.1:c.3531C>T, NM_001129834.1:c.3531C>T, NM_001129835.1:c.3531C>T, NM_001129836.1:c.3531C>T, NM_001129837.1:c.3531C>T, NM_001129838.1:c.3531C>T, NM_001129839.1:c.3531C>T, NM_001129840.1:c.3531C>T, NM_001129841.1:c.3531C>T, NM_001129842.1:c.3531C>T, NM_001129843.1:c.3531C>T, NM_001129844.1:c.3522C>T, NM_001129846.1:c.3531C>T, NM_001167623.1:c.3531C>T, NM_001167624.1:c.3531C>T, NM_001167625.1:c.3531C>T, NM_199460.2:c.3591C>T, XM_005253765.1:c.3741C>T, XM_005253766.1:c.3600C>T, XM_005253767.1:c.3540C>T, XM_005253768.1:c.3600C>T, XM_005253769.1:c.3540C>T, XM_005253770.1:c.3540C>T, XM_005253771.1:c.3540C>T, XM_005253772.1:c.3540C>T, XM_005253773.1:c.3600C>T, XM_005253774.1:c.3540C>T, XM_005253775.1:c.3540C>T, XM_005253776.1:c.3540C>T, XM_005253777.1:c.3540C>T, XM_005253778.1:c.3540C>T, XM_005253779.1:c.3540C>T, XM_005253780.1:cVOUS10/26/2015
45CACNA1CEx28NM_000719.6:c.3560G>Ap.Arg1187Gln | p.R1187QLRG_334t1:c.3560G>A, LRG_334t2:c.3620G>A, LRG_334t3:c.3560G>A, LRG_334t4:c.3560G>A, NM_000719.6:c.3560G>A, NM_001129827.1:c.3620G>A, NM_001129829.1:c.3560G>A, NM_001129830.1:c.3560G>A, NM_001129831.1:c.3560G>A, NM_001129832.1:c.3620G>A, NM_001129833.1:c.3560G>A, NM_001129834.1:c.3560G>A, NM_001129835.1:c.3560G>A, NM_001129836.1:c.3560G>A, NM_001129837.1:c.3560G>A, NM_001129838.1:c.3560G>A, NM_001129839.1:c.3560G>A, NM_001129840.1:c.3560G>A, NM_001129841.1:c.3560G>A, NM_001129842.1:c.3560G>A, NM_001129843.1:c.3560G>A, NM_001129844.1:c.3551G>A, NM_001129846.1:c.3560G>A, NM_001167623.1:c.3560G>A, NM_001167624.1:c.3560G>A, NM_001167625.1:c.3560G>A, NM_199460.2:c.3620G>A, XM_005253765.1:c.3770G>A, XM_005253766.1:c.3629G>A, XM_005253767.1:c.3569G>A, XM_005253768.1:c.3629G>A, XM_005253769.1:c.3569G>A, XM_005253770.1:c.3569G>A, XM_005253771.1:c.3569G>A, XM_005253772.1:c.3569G>A, XM_005253773.1:c.3629G>A, XM_005253774.1:c.3569G>A, XM_005253775.1:c.3569G>A, XM_005253776.1:c.3569G>A, XM_0052537VOUS10/05/2018
46CACNA1CEx28NM_000719.6:c.3642C>Tp.Tyr1214= | p.Y1214=NM_000719.6:c.3642C>T, NM_001129827.1:c.3702C>T, NM_001129829.1:c.3642C>T, NM_001129830.1:c.3642C>T, NM_001129831.1:c.3642C>T, NM_001129832.1:c.3702C>T, NM_001129833.1:c.3642C>T, NM_001129834.1:c.3642C>T, NM_001129835.1:c.3642C>T, NM_001129836.1:c.3642C>T, NM_001129837.1:c.3642C>T, NM_001129838.1:c.3642C>T, NM_001129839.1:c.3642C>T, NM_001129840.1:c.3642C>T, NM_001129841.1:c.3642C>T, NM_001129842.1:c.3642C>T, NM_001129843.1:c.3642C>T, NM_001129844.1:c.3633C>T, NM_001129846.1:c.3642C>T, NM_001167623.1:c.3642C>T, NM_001167624.1:c.3642C>T, NM_001167625.1:c.3642C>T, NM_199460.2:c.3702C>TVOUS08/29/2013
47CACNA1CEx28NM_000719.6:c.3671delTLRG_334t1:c.3671delT, LRG_334t2:c.3731delT, LRG_334t3:c.3671delT, LRG_334t4:c.3671delT, NM_000719.6:c.3671delT, NM_001129827.1:c.3731delT, NM_001129829.1:c.3671delT, NM_001129830.1:c.3671delT, NM_001129831.1:c.3671delT, NM_001129832.1:c.3731delT, NM_001129833.1:c.3671delT, NM_001129834.1:c.3671delT, NM_001129835.1:c.3671delT, NM_001129836.1:c.3671delT, NM_001129837.1:c.3671delT, NM_001129838.1:c.3671delT, NM_001129839.1:c.3671delT, NM_001129840.1:c.3671delT, NM_001129841.1:c.3671delT, NM_001129842.1:c.3671delT, NM_001129843.1:c.3671delT, NM_001129844.1:c.3662delT, NM_001129846.1:c.3671delT, NM_001167623.1:c.3671delT, NM_001167624.1:c.3671delT, NM_001167625.1:c.3671delT, NM_199460.2:c.3731delT, XM_005253765.1:c.3881delT, XM_005253766.1:c.3740delT, XM_005253767.1:c.3680delT, XM_005253768.1:c.3740delT, XM_005253769.1:c.3680delT, XM_005253770.1:c.3680delT, XM_005253771.1:c.3680delT, XM_005253772.1:c.3680delT, XM_005253773.1:c.3740delT, XM_005253774.1:c.3680delT, XM_005253775.1:c.3680delTVOUS05/02/2016
48CACNA1CEx28NM_000719.6:c.3679G>Ap.Val1227Ile | p.V1227INM_000719.6:c.3679G>A, NM_001129827.1:c.3739G>A, NM_001129829.1:c.3679G>A, NM_001129830.1:c.3679G>A, NM_001129831.1:c.3679G>A, NM_001129832.1:c.3739G>A, NM_001129833.1:c.3679G>A, NM_001129834.1:c.3679G>A, NM_001129835.1:c.3679G>A, NM_001129836.1:c.3679G>A, NM_001129837.1:c.3679G>A, NM_001129838.1:c.3679G>A, NM_001129839.1:c.3679G>A, NM_001129840.1:c.3679G>A, NM_001129841.1:c.3679G>A, NM_001129842.1:c.3679G>A, NM_001129843.1:c.3679G>A, NM_001129844.1:c.3670G>A, NM_001129846.1:c.3679G>A, NM_001167623.1:c.3679G>A, NM_001167624.1:c.3679G>A, NM_001167625.1:c.3679G>A, NM_199460.2:c.3739G>A, XM_005253765.1:c.3889G>A, XM_005253766.1:c.3748G>A, XM_005253767.1:c.3688G>A, XM_005253768.1:c.3748G>A, XM_005253769.1:c.3688G>A, XM_005253770.1:c.3688G>A, XM_005253771.1:c.3688G>A, XM_005253772.1:c.3688G>A, XM_005253773.1:c.3748G>A, XM_005253774.1:c.3688G>A, XM_005253775.1:c.3688G>A, XM_005253776.1:c.3688G>A, XM_005253777.1:c.3688G>A, XM_005253778.1:c.3688G>A, XM_005253779.1:c.3688G>A, XM_005253780.1:cVOUS12/07/2015
49CACNA1CEx29NM_000719.6:c.3747C>Tp.Ile1249= | p.I1249=LRG_334t1:c.3747C>T, LRG_334t2:c.3807C>T, LRG_334t3:c.3747C>T, LRG_334t4:c.3747C>T, NM_000719.6:c.3747C>T, NM_001129827.1:c.3807C>T, NM_001129829.1:c.3747C>T, NM_001129830.1:c.3747C>T, NM_001129831.1:c.3747C>T, NM_001129832.1:c.3807C>T, NM_001129833.1:c.3747C>T, NM_001129834.1:c.3747C>T, NM_001129835.1:c.3747C>T, NM_001129836.1:c.3747C>T, NM_001129837.1:c.3747C>T, NM_001129838.1:c.3747C>T, NM_001129839.1:c.3747C>T, NM_001129840.1:c.3747C>T, NM_001129841.1:c.3747C>T, NM_001129842.1:c.3747C>T, NM_001129843.1:c.3747C>T, NM_001129844.1:c.3738C>T, NM_001129846.1:c.3747C>T, NM_001167623.1:c.3747C>T, NM_001167624.1:c.3747C>T, NM_001167625.1:c.3747C>T, NM_199460.2:c.3807C>T, XM_005253765.1:c.3957C>T, XM_005253766.1:c.3816C>T, XM_005253767.1:c.3756C>T, XM_005253768.1:c.3816C>T, XM_005253769.1:c.3756C>T, XM_005253770.1:c.3756C>T, XM_005253771.1:c.3756C>T, XM_005253772.1:c.3756C>T, XM_005253773.1:c.3816C>T, XM_005253774.1:c.3756C>T, XM_005253775.1:c.3756C>T, XM_005253776.1:c.3756C>T, XM_0052537VOUS07/14/2016
50CACNA1CEx29NM_000719.6:c.3780C>Ap.Gly1260= | p.G1260=LRG_334t1:c.3780C>A, LRG_334t2:c.3840C>A, LRG_334t3:c.3780C>A, LRG_334t4:c.3780C>A, NM_000719.6:c.3780C>A, NM_001129827.1:c.3840C>A, NM_001129829.1:c.3780C>A, NM_001129830.1:c.3780C>A, NM_001129831.1:c.3780C>A, NM_001129832.1:c.3840C>A, NM_001129833.1:c.3780C>A, NM_001129834.1:c.3780C>A, NM_001129835.1:c.3780C>A, NM_001129836.1:c.3780C>A, NM_001129837.1:c.3780C>A, NM_001129838.1:c.3780C>A, NM_001129839.1:c.3780C>A, NM_001129840.1:c.3780C>A, NM_001129841.1:c.3780C>A, NM_001129842.1:c.3780C>A, NM_001129843.1:c.3780C>A, NM_001129844.1:c.3771C>A, NM_001129846.1:c.3780C>A, NM_001167623.1:c.3780C>A, NM_001167624.1:c.3780C>A, NM_001167625.1:c.3780C>A, NM_199460.2:c.3840C>A, XM_005253765.1:c.3990C>A, XM_005253766.1:c.3849C>A, XM_005253767.1:c.3789C>A, XM_005253768.1:c.3849C>A, XM_005253769.1:c.3789C>A, XM_005253770.1:c.3789C>A, XM_005253771.1:c.3789C>A, XM_005253772.1:c.3789C>A, XM_005253773.1:c.3849C>A, XM_005253774.1:c.3789C>A, XM_005253775.1:c.3789C>A, XM_005253776.1:c.3789C>A, XM_0052537VOUS10/31/2016
51CACNA1CEx29NM_000719.6:c.3786C>Tp.Phe1262= | p.F1262=NM_000719.6:c.3786C>T, NM_001129827.1:c.3846C>T, NM_001129829.1:c.3786C>T, NM_001129830.1:c.3786C>T, NM_001129831.1:c.3786C>T, NM_001129832.1:c.3846C>T, NM_001129833.1:c.3786C>T, NM_001129834.1:c.3786C>T, NM_001129835.1:c.3786C>T, NM_001129836.1:c.3786C>T, NM_001129837.1:c.3786C>T, NM_001129838.1:c.3786C>T, NM_001129839.1:c.3786C>T, NM_001129840.1:c.3786C>T, NM_001129841.1:c.3786C>T, NM_001129842.1:c.3786C>T, NM_001129843.1:c.3786C>T, NM_001129844.1:c.3777C>T, NM_001129846.1:c.3786C>T, NM_001167623.1:c.3786C>T, NM_001167624.1:c.3786C>T, NM_001167625.1:c.3786C>T, NM_199460.2:c.3846C>TBenign05/13/2014 
52CACNA1CEx32NM_000719.6:c.3969C>Tp.Ile1323= | p.I1323=NM_000719.6:c.3969C>T, NM_001129827.1:c.4113C>T, NM_001129829.1:c.4035C>T, NM_001129830.1:c.3969C>T, NM_001129831.1:c.4053C>T, NM_001129832.1:c.4029C>T, NM_001129833.1:c.3969C>T, NM_001129834.1:c.3969C>T, NM_001129835.1:c.3969C>T, NM_001129836.1:c.4020C>T, NM_001129837.1:c.3936C>T, NM_001129838.1:c.3936C>T, NM_001129839.1:c.3930C>T, NM_001129840.1:c.3969C>T, NM_001129841.1:c.3969C>T, NM_001129842.1:c.3969C>T, NM_001129843.1:c.3969C>T, NM_001129844.1:c.3960C>T, NM_001129846.1:c.3936C>T, NM_001167623.1:c.3969C>T, NM_001167624.1:c.3969C>T, NM_001167625.1:c.3936C>T, NM_199460.2:c.4113C>TVOUS10/16/2013
53CACNA1CEx33NM_000719.6:c.4140+4G>AVOUS03/03/2014
54CACNA1CEx35NM_000719.6:c.4309C>Tp.Pro1437Ser | p.P1437SLRG_334t1:c.4309C>T, LRG_334t2:c.4453C>T, LRG_334t3:c.4309C>T, LRG_334t4:c.4309C>T, NM_000719.6:c.4309C>T, NM_001129827.1:c.4453C>T, NM_001129829.1:c.4375C>T, NM_001129830.1:c.4309C>T, NM_001129831.1:c.4393C>T, NM_001129832.1:c.4369C>T, NM_001129833.1:c.4309C>T, NM_001129834.1:c.4309C>T, NM_001129835.1:c.4309C>T, NM_001129836.1:c.4360C>T, NM_001129837.1:c.4276C>T, NM_001129838.1:c.4276C>T, NM_001129839.1:c.4270C>T, NM_001129840.1:c.4309C>T, NM_001129841.1:c.4309C>T, NM_001129842.1:c.4309C>T, NM_001129843.1:c.4309C>T, NM_001129844.1:c.4300C>T, NM_001129846.1:c.4276C>T, NM_001167623.1:c.4309C>T, NM_001167624.1:c.4309C>T, NM_001167625.1:c.4276C>T, NM_199460.2:c.4453C>T, XM_005253765.1:c.4603C>T, XM_005253766.1:c.4462C>T, XM_005253767.1:c.4285C>T, XM_005253768.1:c.4462C>T, XM_005253769.1:c.4384C>T, XM_005253770.1:c.4318C>T, XM_005253771.1:c.4318C>T, XM_005253772.1:c.4402C>T, XM_005253773.1:c.4378C>T, XM_005253774.1:c.4318C>T, XM_005253775.1:c.4318C>T, XM_005253776.1:c.4318C>T, XM_0052537VOUS12/21/2017
55CACNA1CEx35NM_000719.6:c.4322C>Tp.Thr1441Met | p.T1441MNM_000719.6:c.4322C>T, NM_001129827.1:c.4466C>T, NM_001129829.1:c.4388C>T, NM_001129830.1:c.4322C>T, NM_001129831.1:c.4406C>T, NM_001129832.1:c.4382C>T, NM_001129833.1:c.4322C>T, NM_001129834.1:c.4322C>T, NM_001129835.1:c.4322C>T, NM_001129836.1:c.4373C>T, NM_001129837.1:c.4289C>T, NM_001129838.1:c.4289C>T, NM_001129839.1:c.4283C>T, NM_001129840.1:c.4322C>T, NM_001129841.1:c.4322C>T, NM_001129842.1:c.4322C>T, NM_001129843.1:c.4322C>T, NM_001129844.1:c.4313C>T, NM_001129846.1:c.4289C>T, NM_001167623.1:c.4322C>T, NM_001167624.1:c.4322C>T, NM_001167625.1:c.4289C>T, NM_199460.2:c.4466C>TVOUS01/13/2014
56CACNA1CEx36NM_000719.6:c.4418C>Gp.Ala1473Gly | p.A1473GNM_000719.6:c.4418C>G, NM_001129827.1:c.4562C>G, NM_001129829.1:c.4484C>G, NM_001129830.1:c.4418C>G, NM_001129831.1:c.4502C>G, NM_001129832.1:c.4478C>G, NM_001129833.1:c.4418C>G, NM_001129834.1:c.4418C>G, NM_001129835.1:c.4418C>G, NM_001129836.1:c.4469C>G, NM_001129837.1:c.4385C>G, NM_001129838.1:c.4385C>G, NM_001129839.1:c.4379C>G, NM_001129840.1:c.4418C>G, NM_001129841.1:c.4418C>G, NM_001129842.1:c.4418C>G, NM_001129843.1:c.4418C>G, NM_001129844.1:c.4409C>G, NM_001129846.1:c.4385C>G, NM_001167623.1:c.4418C>G, NM_001167624.1:c.4418C>G, NM_001167625.1:c.4385C>G, NM_199460.2:c.4562C>G, XM_005253765.1:c.4712C>G, XM_005253766.1:c.4571C>G, XM_005253767.1:c.4394C>G, XM_005253768.1:c.4571C>G, XM_005253769.1:c.4493C>G, XM_005253770.1:c.4427C>G, XM_005253771.1:c.4427C>G, XM_005253772.1:c.4511C>G, XM_005253773.1:c.4487C>G, XM_005253774.1:c.4427C>G, XM_005253775.1:c.4427C>G, XM_005253776.1:c.4427C>G, XM_005253777.1:c.4478C>G, XM_005253778.1:c.4394C>G, XM_005253779.1:c.4394C>G, XM_005253780.1:cLikely pathogenic04/24/2015 
57CACNA1CEx36NM_000719.6:c.4485T>Cp.Asp1495= | p.D1495=NM_000719.6:c.4485T>C, NM_001129827.1:c.4629T>C, NM_001129829.1:c.4551T>C, NM_001129830.1:c.4485T>C, NM_001129831.1:c.4569T>C, NM_001129832.1:c.4545T>C, NM_001129833.1:c.4485T>C, NM_001129834.1:c.4485T>C, NM_001129835.1:c.4485T>C, NM_001129836.1:c.4536T>C, NM_001129837.1:c.4452T>C, NM_001129838.1:c.4452T>C, NM_001129839.1:c.4446T>C, NM_001129840.1:c.4485T>C, NM_001129841.1:c.4485T>C, NM_001129842.1:c.4485T>C, NM_001129843.1:c.4485T>C, NM_001129844.1:c.4476T>C, NM_001129846.1:c.4452T>C, NM_001167623.1:c.4485T>C, NM_001167624.1:c.4485T>C, NM_001167625.1:c.4452T>C, NM_199460.2:c.4629T>CBenign07/23/2013 
58CACNA1CEx37NM_000719.6:c.4611C>Tp.Arg1537= | p.R1537=NM_000719.6:c.4611C>T, NM_001129827.1:c.4755C>T, NM_001129829.1:c.4677C>T, NM_001129830.1:c.4611C>T, NM_001129831.1:c.4695C>T, NM_001129832.1:c.4671C>T, NM_001129833.1:c.4611C>T, NM_001129834.1:c.4611C>T, NM_001129835.1:c.4611C>T, NM_001129836.1:c.4662C>T, NM_001129837.1:c.4578C>T, NM_001129838.1:c.4578C>T, NM_001129839.1:c.4572C>T, NM_001129840.1:c.4611C>T, NM_001129841.1:c.4611C>T, NM_001129842.1:c.4611C>T, NM_001129843.1:c.4611C>T, NM_001129844.1:c.4602C>T, NM_001129846.1:c.4578C>T, NM_001167623.1:c.4611C>T, NM_001167624.1:c.4611C>T, NM_001167625.1:c.4578C>T, NM_199460.2:c.4755C>T, XM_005253765.1:c.4905C>T, XM_005253766.1:c.4764C>T, XM_005253767.1:c.4587C>T, XM_005253768.1:c.4764C>T, XM_005253769.1:c.4686C>T, XM_005253770.1:c.4620C>T, XM_005253771.1:c.4620C>T, XM_005253772.1:c.4704C>T, XM_005253773.1:c.4680C>T, XM_005253774.1:c.4620C>T, XM_005253775.1:c.4620C>T, XM_005253776.1:c.4620C>T, XM_005253777.1:c.4671C>T, XM_005253778.1:c.4587C>T, XM_005253779.1:c.4587C>T, XM_005253780.1:cVOUS03/03/2015
59CACNA1CEx38NM_000719.6:c.4624-9C>TNM_000719.6:c.4624-9C>T, NM_001129827.1:c.4768-9C>T, NM_001129829.1:c.4690-9C>T, NM_001129830.1:c.4624-9C>T, NM_001129831.1:c.4708-9C>T, NM_001129832.1:c.4684-9C>T, NM_001129833.1:c.4624-9C>T, NM_001129834.1:c.4624-9C>T, NM_001129835.1:c.4624-9C>T, NM_001129836.1:c.4675-9C>T, NM_001129837.1:c.4591-9C>T, NM_001129838.1:c.4591-9C>T, NM_001129839.1:c.4585-9C>T, NM_001129840.1:c.4624-9C>T, NM_001129841.1:c.4624-9C>T, NM_001129842.1:c.4624-9C>T, NM_001129843.1:c.4624-9C>T, NM_001129844.1:c.4615-9C>T, NM_001129846.1:c.4591-9C>T, NM_001167623.1:c.4624-9C>T, NM_001167624.1:c.4624-9C>T, NM_001167625.1:c.4591-9C>T, NM_199460.2:c.4768-9C>T, XM_005253765.1:c.4918-9C>T, XM_005253766.1:c.4777-9C>T, XM_005253767.1:c.4600-9C>T, XM_005253768.1:c.4777-9C>T, XM_005253769.1:c.4699-9C>T, XM_005253770.1:c.4633-9C>T, XM_005253771.1:c.4633-9C>T, XM_005253772.1:c.4717-9C>T, XM_005253773.1:c.4693-9C>T, XM_005253774.1:c.4633-9C>T, XM_005253775.1:c.4633-9C>T, XM_005253776.1:c.4633-9C>T, XM_005253777.1:c.4684-9CBenign10/06/2015 
60CACNA1CEx38NM_000719.6:c.4624-8G>ANM_000719.6:c.4624-8G>A, NM_001129827.1:c.4768-8G>A, NM_001129829.1:c.4690-8G>A, NM_001129830.1:c.4624-8G>A, NM_001129831.1:c.4708-8G>A, NM_001129832.1:c.4684-8G>A, NM_001129833.1:c.4624-8G>A, NM_001129834.1:c.4624-8G>A, NM_001129835.1:c.4624-8G>A, NM_001129836.1:c.4675-8G>A, NM_001129837.1:c.4591-8G>A, NM_001129838.1:c.4591-8G>A, NM_001129839.1:c.4585-8G>A, NM_001129840.1:c.4624-8G>A, NM_001129841.1:c.4624-8G>A, NM_001129842.1:c.4624-8G>A, NM_001129843.1:c.4624-8G>A, NM_001129844.1:c.4615-8G>A, NM_001129846.1:c.4591-8G>A, NM_001167623.1:c.4624-8G>A, NM_001167624.1:c.4624-8G>A, NM_001167625.1:c.4591-8G>A, NM_199460.2:c.4768-8G>A, XM_005253765.1:c.4918-8G>A, XM_005253766.1:c.4777-8G>A, XM_005253767.1:c.4600-8G>A, XM_005253768.1:c.4777-8G>A, XM_005253769.1:c.4699-8G>A, XM_005253770.1:c.4633-8G>A, XM_005253771.1:c.4633-8G>A, XM_005253772.1:c.4717-8G>A, XM_005253773.1:c.4693-8G>A, XM_005253774.1:c.4633-8G>A, XM_005253775.1:c.4633-8G>A, XM_005253776.1:c.4633-8G>A, XM_005253777.1:c.4684-8GVOUS01/06/2015
61CACNA1CEx38NM_000719.6:c.4641C>Tp.Asn1547= | p.N1547=NM_000719.6:c.4641C>T, NM_001129827.1:c.4785C>T, NM_001129829.1:c.4707C>T, NM_001129830.1:c.4641C>T, NM_001129831.1:c.4725C>T, NM_001129832.1:c.4701C>T, NM_001129833.1:c.4641C>T, NM_001129834.1:c.4641C>T, NM_001129835.1:c.4641C>T, NM_001129836.1:c.4692C>T, NM_001129837.1:c.4608C>T, NM_001129838.1:c.4608C>T, NM_001129839.1:c.4602C>T, NM_001129840.1:c.4641C>T, NM_001129841.1:c.4641C>T, NM_001129842.1:c.4641C>T, NM_001129843.1:c.4641C>T, NM_001129844.1:c.4632C>T, NM_001129846.1:c.4608C>T, NM_001167623.1:c.4641C>T, NM_001167624.1:c.4641C>T, NM_001167625.1:c.4608C>T, NM_199460.2:c.4785C>TVOUS08/02/2013
62CACNA1CEx38NM_000719.6:c.4659C>Tp.Asp1553= | p.D1553=LRG_334t1:c.4659C>T, LRG_334t2:c.4803C>T, LRG_334t3:c.4659C>T, LRG_334t4:c.4659C>T, NM_000719.6:c.4659C>T, NM_001129827.1:c.4803C>T, NM_001129829.1:c.4725C>T, NM_001129830.1:c.4659C>T, NM_001129831.1:c.4743C>T, NM_001129832.1:c.4719C>T, NM_001129833.1:c.4659C>T, NM_001129834.1:c.4659C>T, NM_001129835.1:c.4659C>T, NM_001129836.1:c.4710C>T, NM_001129837.1:c.4626C>T, NM_001129838.1:c.4626C>T, NM_001129839.1:c.4620C>T, NM_001129840.1:c.4659C>T, NM_001129841.1:c.4659C>T, NM_001129842.1:c.4659C>T, NM_001129843.1:c.4659C>T, NM_001129844.1:c.4650C>T, NM_001129846.1:c.4626C>T, NM_001167623.1:c.4659C>T, NM_001167624.1:c.4659C>T, NM_001167625.1:c.4626C>T, NM_199460.2:c.4803C>T, XM_005253765.1:c.4953C>T, XM_005253766.1:c.4812C>T, XM_005253767.1:c.4635C>T, XM_005253768.1:c.4812C>T, XM_005253769.1:c.4734C>T, XM_005253770.1:c.4668C>T, XM_005253771.1:c.4668C>T, XM_005253772.1:c.4752C>T, XM_005253773.1:c.4728C>T, XM_005253774.1:c.4668C>T, XM_005253775.1:c.4668C>T, XM_005253776.1:c.4668C>T, XM_0052537VOUS09/30/2016
63CACNA1CEx39NM_000719.6:c.4727-10C>TNM_000719.6:c.4727-10C>T, NM_001129827.1:c.4871-10C>T, NM_001129829.1:c.4840C>T, NM_001129830.1:c.4727-10C>T, NM_001129831.1:c.4811-10C>T, NM_001129832.1:c.4787-10C>T, NM_001129833.1:c.4774C>T, NM_001129834.1:c.4774C>T, NM_001129835.1:c.4774C>T, NM_001129836.1:c.4778-10C>T, NM_001129837.1:c.4741C>T, NM_001129838.1:c.4741C>T, NM_001129839.1:c.4735C>T, NM_001129840.1:c.4727-10C>T, NM_001129841.1:c.4727-10C>T, NM_001129842.1:c.4727-10C>T, NM_001129843.1:c.4727-10C>T, NM_001129844.1:c.4718-10C>T, NM_001129846.1:c.4694-10C>T, NM_001167623.1:c.4727-10C>T, NM_001167624.1:c.4727-10C>T, NM_001167625.1:c.4694-10C>T, NM_199460.2:c.4871-10C>T, NR_045725.1:n.*1470G>A, XM_005253765.1:c.5021-10C>T, XM_005253766.1:c.4880-10C>T, XM_005253767.1:c.4703-10C>T, XM_005253768.1:c.4880-10C>T, XM_005253769.1:c.4849C>T, XM_005253770.1:c.4736-10C>T, XM_005253771.1:c.4736-10C>T, XM_005253772.1:c.4820-10C>T, XM_005253773.1:c.4796-10C>T, XM_005253774.1:c.4783C>T, XM_005253775.1:c.4783C>T, XM_005253776.1:c.4783C>TVOUS04/29/2015
64CACNA1CEx39NM_000719.6:c.4727-6C>TNM_000719.6:c.4727-6C>T, NM_001129827.1:c.4871-6C>T, NM_001129829.1:c.4844C>T, NM_001129830.1:c.4727-6C>T, NM_001129831.1:c.4811-6C>T, NM_001129832.1:c.4787-6C>T, NM_001129833.1:c.4778C>T, NM_001129834.1:c.4778C>T, NM_001129835.1:c.4778C>T, NM_001129836.1:c.4778-6C>T, NM_001129837.1:c.4745C>T, NM_001129838.1:c.4745C>T, NM_001129839.1:c.4739C>T, NM_001129840.1:c.4727-6C>T, NM_001129841.1:c.4727-6C>T, NM_001129842.1:c.4727-6C>T, NM_001129843.1:c.4727-6C>T, NM_001129844.1:c.4718-6C>T, NM_001129846.1:c.4694-6C>T, NM_001167623.1:c.4727-6C>T, NM_001167624.1:c.4727-6C>T, NM_001167625.1:c.4694-6C>T, NM_199460.2:c.4871-6C>T, NR_045725.1:n.*1466G>A, XM_005253765.1:c.5021-6C>T, XM_005253766.1:c.4880-6C>T, XM_005253767.1:c.4703-6C>T, XM_005253768.1:c.4880-6C>T, XM_005253769.1:c.4853C>T, XM_005253770.1:c.4736-6C>T, XM_005253771.1:c.4736-6C>T, XM_005253772.1:c.4820-6C>T, XM_005253773.1:c.4796-6C>T, XM_005253774.1:c.4787C>T, XM_005253775.1:c.4787C>T, XM_005253776.1:c.4787C>T, XM_005253777.1:c.4787-VOUS07/15/2015
65CACNA1CEx39NM_000719.6:c.4760C>Tp.Ala1587Val | p.A1587VNM_000719.6:c.4760C>T, NM_001129827.1:c.4904C>T, NM_001129829.1:c.4883C>T, NM_001129830.1:c.4760C>T, NM_001129831.1:c.4844C>T, NM_001129832.1:c.4820C>T, NM_001129833.1:c.4817C>T, NM_001129834.1:c.4817C>T, NM_001129835.1:c.4817C>T, NM_001129836.1:c.4811C>T, NM_001129837.1:c.4784C>T, NM_001129838.1:c.4784C>T, NM_001129839.1:c.4778C>T, NM_001129840.1:c.4760C>T, NM_001129841.1:c.4760C>T, NM_001129842.1:c.4760C>T, NM_001129843.1:c.4760C>T, NM_001129844.1:c.4751C>T, NM_001129846.1:c.4727C>T, NM_001167623.1:c.4760C>T, NM_001167624.1:c.4760C>T, NM_001167625.1:c.4727C>T, NM_199460.2:c.4904C>T, NR_045725.1:n.*1427G>A, XM_005253765.1:c.5054C>T, XM_005253766.1:c.4913C>T, XM_005253767.1:c.4736C>T, XM_005253768.1:c.4913C>T, XM_005253769.1:c.4892C>T, XM_005253770.1:c.4769C>T, XM_005253771.1:c.4769C>T, XM_005253772.1:c.4853C>T, XM_005253773.1:c.4829C>T, XM_005253774.1:c.4826C>T, XM_005253775.1:c.4826C>T, XM_005253776.1:c.4826C>T, XM_005253777.1:c.4820C>T, XM_005253778.1:c.4793C>T, XM_005253779.1:c.4VOUS03/13/2015
66CACNA1CEx40NM_000719.6:c.4829-7G>ANM_000719.6:c.4829-7G>A, NM_001129827.1:c.4973-7G>A, NM_001129829.1:c.4952-7G>A, NM_001129830.1:c.4829-7G>A, NM_001129831.1:c.4913-7G>A, NM_001129832.1:c.4889-7G>A, NM_001129833.1:c.4886-7G>A, NM_001129834.1:c.4886-7G>A, NM_001129835.1:c.4886-7G>A, NM_001129836.1:c.4880-7G>A, NM_001129837.1:c.4853-7G>A, NM_001129838.1:c.4853-7G>A, NM_001129839.1:c.4847-7G>A, NM_001129840.1:c.4829-7G>A, NM_001129841.1:c.4829-7G>A, NM_001129842.1:c.4829-7G>A, NM_001129843.1:c.4829-7G>A, NM_001129844.1:c.4820-7G>A, NM_001129846.1:c.4796-7G>A, NM_001167623.1:c.4829-7G>A, NM_001167624.1:c.4829-7G>A, NM_001167625.1:c.4796-7G>A, NM_199460.2:c.4973-7G>A, NR_045725.1:n.1144C>T, XM_005253765.1:c.5123-7G>A, XM_005253766.1:c.4982-7G>A, XM_005253767.1:c.4805-7G>A, XM_005253768.1:c.4982-7G>A, XM_005253769.1:c.4961-7G>A, XM_005253770.1:c.4838-7G>A, XM_005253771.1:c.4838-7G>A, XM_005253772.1:c.4922-7G>A, XM_005253773.1:c.4898-7G>A, XM_005253774.1:c.4895-7G>A, XM_005253775.1:c.4895-7G>A, XM_005253776.1:c.4895-7G>A, XBenign10/06/2015 
67CACNA1CEx40NM_000719.6:c.4942G>Ap.Ala1648Thr | p.A1648TNM_000719.6:c.4942G>A, NM_001129827.1:c.5086G>A, NM_001129829.1:c.5065G>A, NM_001129830.1:c.4942G>A, NM_001129831.1:c.5026G>A, NM_001129832.1:c.5002G>A, NM_001129833.1:c.4999G>A, NM_001129834.1:c.4999G>A, NM_001129835.1:c.4999G>A, NM_001129836.1:c.4993G>A, NM_001129837.1:c.4966G>A, NM_001129838.1:c.4966G>A, NM_001129839.1:c.4960G>A, NM_001129840.1:c.4942G>A, NM_001129841.1:c.4942G>A, NM_001129842.1:c.4942G>A, NM_001129843.1:c.4942G>A, NM_001129844.1:c.4933G>A, NM_001129846.1:c.4909G>A, NM_001167623.1:c.4942G>A, NM_001167624.1:c.4942G>A, NM_001167625.1:c.4909G>A, NM_199460.2:c.5086G>A, NR_045725.1:n.1024C>T, XM_005253765.1:c.5236G>A, XM_005253766.1:c.5095G>A, XM_005253767.1:c.4918G>A, XM_005253768.1:c.5095G>A, XM_005253769.1:c.5074G>A, XM_005253770.1:c.4951G>A, XM_005253771.1:c.4951G>A, XM_005253772.1:c.5035G>A, XM_005253773.1:c.5011G>A, XM_005253774.1:c.5008G>A, XM_005253775.1:c.5008G>A, XM_005253776.1:c.5008G>A, XM_005253777.1:c.5002G>A, XM_005253778.1:c.4975G>A, XM_005253779.1:c.49VOUS11/18/2014
68CACNA1CEx41NM_000719.6:c.5091+8G>ANM_000719.6:c.5091+8G>A, NM_001129827.1:c.5235+8G>A, NM_001129829.1:c.5214+8G>A, NM_001129830.1:c.5091+8G>A, NM_001129831.1:c.5175+8G>A, NM_001129832.1:c.5151+8G>A, NM_001129833.1:c.5148+8G>A, NM_001129834.1:c.5148+8G>A, NM_001129835.1:c.5148+8G>A, NM_001129836.1:c.5142+8G>A, NM_001129837.1:c.5115+8G>A, NM_001129838.1:c.5115+8G>A, NM_001129839.1:c.5109+8G>A, NM_001129840.1:c.5091+8G>A, NM_001129841.1:c.5091+8G>A, NM_001129842.1:c.5091+8G>A, NM_001129843.1:c.5091+8G>A, NM_001129844.1:c.5082+8G>A, NM_001129846.1:c.5058+8G>A, NM_001167623.1:c.5091+8G>A, NM_001167624.1:c.5091+8G>A, NM_001167625.1:c.5058+8G>A, NM_199460.2:c.5235+8G>A, NR_045725.1:n.356C>T, XM_005253765.1:c.5385+8G>A, XM_005253766.1:c.5244+8G>A, XM_005253767.1:c.5067+8G>A, XM_005253768.1:c.5244+8G>A, XM_005253769.1:c.5223+8G>A, XM_005253770.1:c.5100+8G>A, XM_005253771.1:c.5100+8G>A, XM_005253772.1:c.5184+8G>A, XM_005253773.1:c.5160+8G>A, XM_005253774.1:c.5157+8G>A, XM_005253775.1:c.5157+8G>A, XM_005253776.1:c.5157+8G>A, XMVOUS02/17/2015
69CACNA1CEx42NM_000719.6:c.5097C>Tp.Ala1699= | p.A1699=NM_000719.6:c.5097C>T, NM_001129827.1:c.5241C>T, NM_001129829.1:c.5220C>T, NM_001129830.1:c.5097C>T, NM_001129831.1:c.5181C>T, NM_001129832.1:c.5157C>T, NM_001129833.1:c.5154C>T, NM_001129834.1:c.5154C>T, NM_001129835.1:c.5154C>T, NM_001129836.1:c.5148C>T, NM_001129837.1:c.5121C>T, NM_001129838.1:c.5121C>T, NM_001129839.1:c.5115C>T, NM_001129840.1:c.5097C>T, NM_001129841.1:c.5097C>T, NM_001129842.1:c.5097C>T, NM_001129843.1:c.5097C>T, NM_001129844.1:c.5088C>T, NM_001129846.1:c.5064C>T, NM_001167623.1:c.5097C>T, NM_001167624.1:c.5097C>T, NM_001167625.1:c.5064C>T, NM_199460.2:c.5241C>T, NR_045725.1:n.334-1552G>ABenign12/17/2012 
70CACNA1CEx42NM_000719.6:c.5106G>Ap.Leu1702= | p.L1702=NM_000719.6:c.5106G>A, NM_001129827.1:c.5250G>A, NM_001129829.1:c.5229G>A, NM_001129830.1:c.5106G>A, NM_001129831.1:c.5190G>A, NM_001129832.1:c.5166G>A, NM_001129833.1:c.5163G>A, NM_001129834.1:c.5163G>A, NM_001129835.1:c.5163G>A, NM_001129836.1:c.5157G>A, NM_001129837.1:c.5130G>A, NM_001129838.1:c.5130G>A, NM_001129839.1:c.5124G>A, NM_001129840.1:c.5106G>A, NM_001129841.1:c.5106G>A, NM_001129842.1:c.5106G>A, NM_001129843.1:c.5106G>A, NM_001129844.1:c.5097G>A, NM_001129846.1:c.5073G>A, NM_001167623.1:c.5106G>A, NM_001167624.1:c.5106G>A, NM_001167625.1:c.5073G>A, NM_199460.2:c.5250G>A, NR_045725.1:n.334-1561C>TVOUS01/16/2014
71CACNA1CEx42NM_000719.6:c.5139C>Tp.Asp1713= | p.D1713=NM_000719.6:c.5139C>T, NM_001129827.1:c.5283C>T, NM_001129829.1:c.5262C>T, NM_001129830.1:c.5139C>T, NM_001129831.1:c.5223C>T, NM_001129832.1:c.5199C>T, NM_001129833.1:c.5196C>T, NM_001129834.1:c.5196C>T, NM_001129835.1:c.5196C>T, NM_001129836.1:c.5190C>T, NM_001129837.1:c.5163C>T, NM_001129838.1:c.5163C>T, NM_001129839.1:c.5157C>T, NM_001129840.1:c.5139C>T, NM_001129841.1:c.5139C>T, NM_001129842.1:c.5139C>T, NM_001129843.1:c.5139C>T, NM_001129844.1:c.5130C>T, NM_001129846.1:c.5106C>T, NM_001167623.1:c.5139C>T, NM_001167624.1:c.5139C>T, NM_001167625.1:c.5106C>T, NM_199460.2:c.5283C>T, NR_045725.1:n.334-1594G>ABenign07/25/2013 
72CACNA1CEx42NM_000719.6:c.5140G>Ap.Gly1714Ser | p.G1714SNM_000719.6:c.5140G>A, NM_001129827.1:c.5284G>A, NM_001129829.1:c.5263G>A, NM_001129830.1:c.5140G>A, NM_001129831.1:c.5224G>A, NM_001129832.1:c.5200G>A, NM_001129833.1:c.5197G>A, NM_001129834.1:c.5197G>A, NM_001129835.1:c.5197G>A, NM_001129836.1:c.5191G>A, NM_001129837.1:c.5164G>A, NM_001129838.1:c.5164G>A, NM_001129839.1:c.5158G>A, NM_001129840.1:c.5140G>A, NM_001129841.1:c.5140G>A, NM_001129842.1:c.5140G>A, NM_001129843.1:c.5140G>A, NM_001129844.1:c.5131G>A, NM_001129846.1:c.5107G>A, NM_001167623.1:c.5140G>A, NM_001167624.1:c.5140G>A, NM_001167625.1:c.5107G>A, NM_199460.2:c.5284G>A, NR_045725.1:n.334-1595C>T, XM_005253765.1:c.5434G>A, XM_005253766.1:c.5293G>A, XM_005253767.1:c.5116G>A, XM_005253768.1:c.5293G>A, XM_005253769.1:c.5272G>A, XM_005253770.1:c.5149G>A, XM_005253771.1:c.5149G>A, XM_005253772.1:c.5233G>A, XM_005253773.1:c.5209G>A, XM_005253774.1:c.5206G>A, XM_005253775.1:c.5206G>A, XM_005253776.1:c.5206G>A, XM_005253777.1:c.5200G>A, XM_005253778.1:c.5173G>A, XM_005253779.1:VOUS08/06/2015
73CACNA1CEx42NM_000719.6:c.5150C>Gp.Ala1717Gly | p.A1717GNM_000719.6:c.5150C>G, NM_001129827.1:c.5294C>G, NM_001129829.1:c.5273C>G, NM_001129830.1:c.5150C>G, NM_001129831.1:c.5234C>G, NM_001129832.1:c.5210C>G, NM_001129833.1:c.5207C>G, NM_001129834.1:c.5207C>G, NM_001129835.1:c.5207C>G, NM_001129836.1:c.5201C>G, NM_001129837.1:c.5174C>G, NM_001129838.1:c.5174C>G, NM_001129839.1:c.5168C>G, NM_001129840.1:c.5150C>G, NM_001129841.1:c.5150C>G, NM_001129842.1:c.5150C>G, NM_001129843.1:c.5150C>G, NM_001129844.1:c.5141C>G, NM_001129846.1:c.5117C>G, NM_001167623.1:c.5150C>G, NM_001167624.1:c.5150C>G, NM_001167625.1:c.5117C>G, NM_199460.2:c.5294C>G, NR_045725.1:n.334-1605G>C, XM_005253765.1:c.5444C>G, XM_005253766.1:c.5303C>G, XM_005253767.1:c.5126C>G, XM_005253768.1:c.5303C>G, XM_005253769.1:c.5282C>G, XM_005253770.1:c.5159C>G, XM_005253771.1:c.5159C>G, XM_005253772.1:c.5243C>G, XM_005253773.1:c.5219C>G, XM_005253774.1:c.5216C>G, XM_005253775.1:c.5216C>G, XM_005253776.1:c.5216C>G, XM_005253777.1:c.5210C>G, XM_005253778.1:c.5183C>G, XM_005253779.1:VOUS02/06/2015
74CACNA1CEx42NM_000719.6:c.5202C>Tp.Gly1734= | p.G1734=NM_000719.6:c.5202C>T, NM_001129827.1:c.5346C>T, NM_001129829.1:c.5325C>T, NM_001129830.1:c.5202C>T, NM_001129831.1:c.5286C>T, NM_001129832.1:c.5262C>T, NM_001129833.1:c.5259C>T, NM_001129834.1:c.5259C>T, NM_001129835.1:c.5259C>T, NM_001129836.1:c.5253C>T, NM_001129837.1:c.5226C>T, NM_001129838.1:c.5226C>T, NM_001129839.1:c.5220C>T, NM_001129840.1:c.5202C>T, NM_001129841.1:c.5202C>T, NM_001129842.1:c.5202C>T, NM_001129843.1:c.5202C>T, NM_001129844.1:c.5193C>T, NM_001129846.1:c.5169C>T, NM_001167623.1:c.5202C>T, NM_001167624.1:c.5202C>T, NM_001167625.1:c.5169C>T, NM_199460.2:c.5346C>T, NR_045725.1:n.334-1657G>A, XM_005253765.1:c.5496C>T, XM_005253766.1:c.5355C>T, XM_005253767.1:c.5178C>T, XM_005253768.1:c.5355C>T, XM_005253769.1:c.5334C>T, XM_005253770.1:c.5211C>T, XM_005253771.1:c.5211C>T, XM_005253772.1:c.5295C>T, XM_005253773.1:c.5271C>T, XM_005253774.1:c.5268C>T, XM_005253775.1:c.5268C>T, XM_005253776.1:c.5268C>T, XM_005253777.1:c.5262C>T, XM_005253778.1:c.5235C>T, XM_005253779.1:VOUS11/03/2014
75CACNA1CEx42NM_000719.6:c.5214C>Ap.Gly1738= | p.G1738=NM_000719.6:c.5214C>A, NM_001129827.1:c.5358C>A, NM_001129829.1:c.5337C>A, NM_001129830.1:c.5214C>A, NM_001129831.1:c.5298C>A, NM_001129832.1:c.5274C>A, NM_001129833.1:c.5271C>A, NM_001129834.1:c.5271C>A, NM_001129835.1:c.5271C>A, NM_001129836.1:c.5265C>A, NM_001129837.1:c.5238C>A, NM_001129838.1:c.5238C>A, NM_001129839.1:c.5232C>A, NM_001129840.1:c.5214C>A, NM_001129841.1:c.5214C>A, NM_001129842.1:c.5214C>A, NM_001129843.1:c.5214C>A, NM_001129844.1:c.5205C>A, NM_001129846.1:c.5181C>A, NM_001167623.1:c.5214C>A, NM_001167624.1:c.5214C>A, NM_001167625.1:c.5181C>A, NM_199460.2:c.5358C>A, NR_045725.1:n.334-1669G>T, XM_005253765.1:c.5508C>A, XM_005253766.1:c.5367C>A, XM_005253767.1:c.5190C>A, XM_005253768.1:c.5367C>A, XM_005253769.1:c.5346C>A, XM_005253770.1:c.5223C>A, XM_005253771.1:c.5223C>A, XM_005253772.1:c.5307C>A, XM_005253773.1:c.5283C>A, XM_005253774.1:c.5280C>A, XM_005253775.1:c.5280C>A, XM_005253776.1:c.5280C>A, XM_005253777.1:c.5274C>A, XM_005253778.1:c.5247C>A, XM_005253779.1:VOUS05/15/2015
76CACNA1CEx42NM_000719.6:c.5292C>Tp.Asn1764= | p.N1764=NM_000719.6:c.5292C>T, NM_001129827.1:c.5436C>T, NM_001129829.1:c.5415C>T, NM_001129830.1:c.5292C>T, NM_001129831.1:c.5376C>T, NM_001129832.1:c.5352C>T, NM_001129833.1:c.5349C>T, NM_001129834.1:c.5349C>T, NM_001129835.1:c.5349C>T, NM_001129836.1:c.5343C>T, NM_001129837.1:c.5316C>T, NM_001129838.1:c.5316C>T, NM_001129839.1:c.5310C>T, NM_001129840.1:c.5292C>T, NM_001129841.1:c.5292C>T, NM_001129842.1:c.5292C>T, NM_001129843.1:c.5292C>T, NM_001129844.1:c.5283C>T, NM_001129846.1:c.5259C>T, NM_001167623.1:c.5292C>T, NM_001167624.1:c.5292C>T, NM_001167625.1:c.5259C>T, NM_199460.2:c.5436C>T, NR_045725.1:n.334-1747G>ABenign12/16/2013 
77CACNA1CEx42NM_000719.6:c.5307C>Tp.Asn1769= | p.N1769=NM_000719.6:c.5307C>T, NM_001129827.1:c.5451C>T, NM_001129829.1:c.5430C>T, NM_001129830.1:c.5307C>T, NM_001129831.1:c.5391C>T, NM_001129832.1:c.5367C>T, NM_001129833.1:c.5364C>T, NM_001129834.1:c.5364C>T, NM_001129835.1:c.5364C>T, NM_001129836.1:c.5358C>T, NM_001129837.1:c.5331C>T, NM_001129838.1:c.5331C>T, NM_001129839.1:c.5325C>T, NM_001129840.1:c.5307C>T, NM_001129841.1:c.5307C>T, NM_001129842.1:c.5307C>T, NM_001129843.1:c.5307C>T, NM_001129844.1:c.5298C>T, NM_001129846.1:c.5274C>T, NM_001167623.1:c.5307C>T, NM_001167624.1:c.5307C>T, NM_001167625.1:c.5274C>T, NM_199460.2:c.5451C>T, NR_045725.1:n.334-1762G>A, XM_005253765.1:c.5601C>T, XM_005253766.1:c.5460C>T, XM_005253767.1:c.5283C>T, XM_005253768.1:c.5460C>T, XM_005253769.1:c.5439C>T, XM_005253770.1:c.5316C>T, XM_005253771.1:c.5316C>T, XM_005253772.1:c.5400C>T, XM_005253773.1:c.5376C>T, XM_005253774.1:c.5373C>T, XM_005253775.1:c.5373C>T, XM_005253776.1:c.5373C>T, XM_005253777.1:c.5367C>T, XM_005253778.1:c.5340C>T, XM_005253779.1:VOUS08/15/2014
78CACNA1CEx42NM_000719.6:c.5361G>Ap.Thr1787= | p.T1787=NM_000719.6:c.5361G>A, NM_001129827.1:c.5505G>A, NM_001129829.1:c.5484G>A, NM_001129830.1:c.5361G>A, NM_001129831.1:c.5445G>A, NM_001129832.1:c.5421G>A, NM_001129833.1:c.5418G>A, NM_001129834.1:c.5418G>A, NM_001129835.1:c.5418G>A, NM_001129836.1:c.5412G>A, NM_001129837.1:c.5385G>A, NM_001129838.1:c.5385G>A, NM_001129839.1:c.5379G>A, NM_001129840.1:c.5361G>A, NM_001129841.1:c.5361G>A, NM_001129842.1:c.5361G>A, NM_001129843.1:c.5361G>A, NM_001129844.1:c.5352G>A, NM_001129846.1:c.5328G>A, NM_001167623.1:c.5361G>A, NM_001167624.1:c.5361G>A, NM_001167625.1:c.5328G>A, NM_199460.2:c.5505G>A, NR_045725.1:n.334-1816C>TBenign05/13/2014 
79CACNA1CEx42NM_000719.6:c.5424G>Ap.Ala1808= | p.A1808=LRG_334t1:c.5424G>A, LRG_334t2:c.5568G>A, LRG_334t3:c.5424G>A, LRG_334t4:c.5424G>A, NM_000719.6:c.5424G>A, NM_001129827.1:c.5568G>A, NM_001129829.1:c.5547G>A, NM_001129830.1:c.5424G>A, NM_001129831.1:c.5508G>A, NM_001129832.1:c.5484G>A, NM_001129833.1:c.5481G>A, NM_001129834.1:c.5481G>A, NM_001129835.1:c.5481G>A, NM_001129836.1:c.5475G>A, NM_001129837.1:c.5448G>A, NM_001129838.1:c.5448G>A, NM_001129839.1:c.5442G>A, NM_001129840.1:c.5424G>A, NM_001129841.1:c.5424G>A, NM_001129842.1:c.5424G>A, NM_001129843.1:c.5424G>A, NM_001129844.1:c.5415G>A, NM_001129846.1:c.5391G>A, NM_001167623.1:c.5424G>A, NM_001167624.1:c.5424G>A, NM_001167625.1:c.5391G>A, NM_199460.2:c.5568G>A, NR_045725.1:n.334-1879C>T, XM_005253765.1:c.5718G>A, XM_005253766.1:c.5577G>A, XM_005253767.1:c.5400G>A, XM_005253768.1:c.5577G>A, XM_005253769.1:c.5556G>A, XM_005253770.1:c.5433G>A, XM_005253771.1:c.5433G>A, XM_005253772.1:c.5517G>A, XM_005253773.1:c.5493G>A, XM_005253774.1:c.5490G>A, XM_005253775.1:c.5490G>A, XM_005253VOUS08/12/2016
80CACNA1CEx42NM_000719.6:c.5435G>Ap.Ser1812Asn | p.S1812NLRG_334t1:c.5435G>A, LRG_334t2:c.5579G>A, LRG_334t3:c.5435G>A, LRG_334t4:c.5435G>A, NM_000719.6:c.5435G>A, NM_001129827.1:c.5579G>A, NM_001129829.1:c.5558G>A, NM_001129830.1:c.5435G>A, NM_001129831.1:c.5519G>A, NM_001129832.1:c.5495G>A, NM_001129833.1:c.5492G>A, NM_001129834.1:c.5492G>A, NM_001129835.1:c.5492G>A, NM_001129836.1:c.5486G>A, NM_001129837.1:c.5459G>A, NM_001129838.1:c.5459G>A, NM_001129839.1:c.5453G>A, NM_001129840.1:c.5435G>A, NM_001129841.1:c.5435G>A, NM_001129842.1:c.5435G>A, NM_001129843.1:c.5435G>A, NM_001129844.1:c.5426G>A, NM_001129846.1:c.5402G>A, NM_001167623.1:c.5435G>A, NM_001167624.1:c.5435G>A, NM_001167625.1:c.5402G>A, NM_199460.2:c.5579G>A, NR_045725.1:n.334-1890C>T, XM_005253765.1:c.5729G>A, XM_005253766.1:c.5588G>A, XM_005253767.1:c.5411G>A, XM_005253768.1:c.5588G>A, XM_005253769.1:c.5567G>A, XM_005253770.1:c.5444G>A, XM_005253771.1:c.5444G>A, XM_005253772.1:c.5528G>A, XM_005253773.1:c.5504G>A, XM_005253774.1:c.5501G>A, XM_005253775.1:c.5501G>A, XM_005253VOUS12/16/2016
81CACNA1CEx43NM_000719.6:c.5451C>Tp.His1817= | p.H1817=LRG_334t1:c.5451C>T, LRG_334t2:c.5595C>T, LRG_334t3:c.5556C>T, LRG_334t4:c.5451C>T, NM_000719.6:c.5451C>T, NM_001129827.1:c.5595C>T, NM_001129829.1:c.5574C>T, NM_001129830.1:c.5556C>T, NM_001129831.1:c.5535C>T, NM_001129832.1:c.5511C>T, NM_001129833.1:c.5508C>T, NM_001129834.1:c.5508C>T, NM_001129835.1:c.5508C>T, NM_001129836.1:c.5502C>T, NM_001129837.1:c.5475C>T, NM_001129838.1:c.5475C>T, NM_001129839.1:c.5469C>T, NM_001129840.1:c.5451C>T, NM_001129841.1:c.5451C>T, NM_001129842.1:c.5451C>T, NM_001129843.1:c.5451C>T, NM_001129844.1:c.5442C>T, NM_001129846.1:c.5418C>T, NM_001167623.1:c.5451C>T, NM_001167624.1:c.5556C>T, NM_001167625.1:c.5631C>T, NM_199460.2:c.5700C>T, NR_045725.1:n.334-4659G>A, XM_005253765.1:c.5745C>T, XM_005253766.1:c.5709C>T, XM_005253767.1:c.5640C>T, XM_005253768.1:c.5604C>T, XM_005253769.1:c.5583C>T, XM_005253770.1:c.5565C>T, XM_005253771.1:c.5565C>T, XM_005253772.1:c.5544C>T, XM_005253773.1:c.5520C>T, XM_005253774.1:c.5517C>T, XM_005253775.1:c.5517C>T, XM_005253Likely benign04/03/2014 
82CACNA1CEx43NM_000719.6:c.5529T>Cp.His1843= | p.H1843=NM_000719.6:c.5529T>C, NM_001129827.1:c.5673T>C, NM_001129829.1:c.5652T>C, NM_001129830.1:c.5634T>C, NM_001129831.1:c.5613T>C, NM_001129832.1:c.5589T>C, NM_001129833.1:c.5586T>C, NM_001129834.1:c.5586T>C, NM_001129835.1:c.5586T>C, NM_001129836.1:c.5580T>C, NM_001129837.1:c.5553T>C, NM_001129838.1:c.5553T>C, NM_001129839.1:c.5547T>C, NM_001129840.1:c.5529T>C, NM_001129841.1:c.5529T>C, NM_001129842.1:c.5529T>C, NM_001129843.1:c.5529T>C, NM_001129844.1:c.5520T>C, NM_001129846.1:c.5496T>C, NM_001167623.1:c.5529T>C, NM_001167624.1:c.5634T>C, NM_001167625.1:c.5709T>C, NM_199460.2:c.5778T>C, NR_045725.1:n.334-4737A>G, XM_005253765.1:c.5823T>C, XM_005253766.1:c.5787T>C, XM_005253767.1:c.5718T>C, XM_005253768.1:c.5682T>C, XM_005253769.1:c.5661T>C, XM_005253770.1:c.5643T>C, XM_005253771.1:c.5643T>C, XM_005253772.1:c.5622T>C, XM_005253773.1:c.5598T>C, XM_005253774.1:c.5595T>C, XM_005253775.1:c.5595T>C, XM_005253776.1:c.5595T>C, XM_005253777.1:c.5589T>C, XM_005253778.1:c.5562T>C, XM_005253779.1:VOUS09/22/2015
83CACNA1CEx44NM_000719.6:c.5604A>Gp.Gln1868= | p.Q1868=NM_000719.6:c.5604A>G, NM_001129827.1:c.5748A>G, NM_001129829.1:c.5727A>G, NM_001129830.1:c.5709A>G, NM_001129831.1:c.5688A>G, NM_001129832.1:c.5664A>G, NM_001129833.1:c.5661A>G, NM_001129834.1:c.5661A>G, NM_001129835.1:c.5661A>G, NM_001129836.1:c.5655A>G, NM_001129837.1:c.5628A>G, NM_001129838.1:c.5628A>G, NM_001129839.1:c.5622A>G, NM_001129840.1:c.5604A>G, NM_001129841.1:c.5604A>G, NM_001129842.1:c.5604A>G, NM_001129843.1:c.5604A>G, NM_001129844.1:c.5595A>G, NM_001129846.1:c.5571A>G, NM_001167623.1:c.5604A>G, NM_001167624.1:c.5709A>G, NM_001167625.1:c.5784A>G, NM_199460.2:c.5853A>G, NR_045725.1:n.333+4374T>C, XR_132587.1:n.*4097T>CBenign10/11/2013 
84CACNA1CEx44NM_000719.6:c.5644T>Cp.Ser1882Pro | p.S1882PLRG_334t1:c.5644T>C, LRG_334t2:c.5788T>C, LRG_334t3:c.5749T>C, LRG_334t4:c.5644T>C, NM_000719.6:c.5644T>C, NM_001129827.1:c.5788T>C, NM_001129829.1:c.5767T>C, NM_001129830.1:c.5749T>C, NM_001129831.1:c.5728T>C, NM_001129832.1:c.5704T>C, NM_001129833.1:c.5701T>C, NM_001129834.1:c.5701T>C, NM_001129835.1:c.5701T>C, NM_001129836.1:c.5695T>C, NM_001129837.1:c.5668T>C, NM_001129838.1:c.5668T>C, NM_001129839.1:c.5662T>C, NM_001129840.1:c.5644T>C, NM_001129841.1:c.5644T>C, NM_001129842.1:c.5644T>C, NM_001129843.1:c.5644T>C, NM_001129844.1:c.5635T>C, NM_001129846.1:c.5611T>C, NM_001167623.1:c.5644T>C, NM_001167624.1:c.5749T>C, NM_001167625.1:c.5824T>C, NM_199460.2:c.5893T>C, NR_045725.1:n.333+4334A>G, XM_005253765.1:c.5938T>C, XM_005253766.1:c.5902T>C, XM_005253767.1:c.5833T>C, XM_005253768.1:c.5797T>C, XM_005253769.1:c.5776T>C, XM_005253770.1:c.5758T>C, XM_005253771.1:c.5758T>C, XM_005253772.1:c.5737T>C, XM_005253773.1:c.5713T>C, XM_005253774.1:c.5710T>C, XM_005253775.1:c.5710T>C, XM_005253VOUS06/11/2019
85CACNA1CEx44NM_000719.6:c.5649G>Ap.Pro1883= | p.P1883=NM_000719.6:c.5649G>A, NM_001129827.1:c.5793G>A, NM_001129829.1:c.5772G>A, NM_001129830.1:c.5754G>A, NM_001129831.1:c.5733G>A, NM_001129832.1:c.5709G>A, NM_001129833.1:c.5706G>A, NM_001129834.1:c.5706G>A, NM_001129835.1:c.5706G>A, NM_001129836.1:c.5700G>A, NM_001129837.1:c.5673G>A, NM_001129838.1:c.5673G>A, NM_001129839.1:c.5667G>A, NM_001129840.1:c.5649G>A, NM_001129841.1:c.5649G>A, NM_001129842.1:c.5649G>A, NM_001129843.1:c.5649G>A, NM_001129844.1:c.5640G>A, NM_001129846.1:c.5616G>A, NM_001167623.1:c.5649G>A, NM_001167624.1:c.5754G>A, NM_001167625.1:c.5829G>A, NM_199460.2:c.5898G>A, NR_045725.1:n.333+4329C>T, XR_132587.1:n.*4052C>TBenign03/13/2014 
86CACNA1CEx44NM_000719.6:c.5665C>Tp.Arg1889Cys | p.R1889CNM_000719.6:c.5665C>T, NM_001129827.1:c.5809C>T, NM_001129829.1:c.5788C>T, NM_001129830.1:c.5770C>T, NM_001129831.1:c.5749C>T, NM_001129832.1:c.5725C>T, NM_001129833.1:c.5722C>T, NM_001129834.1:c.5722C>T, NM_001129835.1:c.5722C>T, NM_001129836.1:c.5716C>T, NM_001129837.1:c.5689C>T, NM_001129838.1:c.5689C>T, NM_001129839.1:c.5683C>T, NM_001129840.1:c.5665C>T, NM_001129841.1:c.5665C>T, NM_001129842.1:c.5665C>T, NM_001129843.1:c.5665C>T, NM_001129844.1:c.5656C>T, NM_001129846.1:c.5632C>T, NM_001167623.1:c.5665C>T, NM_001167624.1:c.5770C>T, NM_001167625.1:c.5845C>T, NM_199460.2:c.5914C>T, NR_045725.1:n.333+4313G>A, XR_132587.1:n.*4036G>ABenign10/21/2013 
87CACNA1CEx44NM_000719.6:c.5680+11C>TBenign02/14/2013 
88CACNA1CEx44NM_000719.6:c.5680+15C>TNM_000719.6:c.5680+15C>T, NM_001129827.1:c.5824+15C>T, NM_001129829.1:c.5803+15C>T, NM_001129830.1:c.5785+15C>T, NM_001129831.1:c.5764+15C>T, NM_001129832.1:c.5740+15C>T, NM_001129833.1:c.5737+15C>T, NM_001129834.1:c.5737+15C>T, NM_001129835.1:c.5737+15C>T, NM_001129836.1:c.5731+15C>T, NM_001129837.1:c.5704+15C>T, NM_001129838.1:c.5704+15C>T, NM_001129839.1:c.5698+15C>T, NM_001129840.1:c.5680+15C>T, NM_001129841.1:c.5680+15C>T, NM_001129842.1:c.5680+15C>T, NM_001129843.1:c.5680+15C>T, NM_001129844.1:c.5671+15C>T, NM_001129846.1:c.5647+15C>T, NM_001167623.1:c.5680+15C>T, NM_001167624.1:c.5785+15C>T, NM_001167625.1:c.5860+15C>T, NM_199460.2:c.5929+15C>T, NR_045725.1:n.333+4283G>A, XR_132587.1:n.*4006G>ABenign10/25/2013 
89CACNA1CEx45NM_000719.6:c.5706A>Gp.Glu1902= | p.E1902=NM_000719.6:c.5706A>G, NM_001129827.1:c.5850A>G, NM_001129829.1:c.5829A>G, NM_001129830.1:c.5811A>G, NM_001129831.1:c.5790A>G, NM_001129832.1:c.5766A>G, NM_001129833.1:c.5763A>G, NM_001129834.1:c.5763A>G, NM_001129835.1:c.5763A>G, NM_001129836.1:c.5757A>G, NM_001129837.1:c.5730A>G, NM_001129838.1:c.5730A>G, NM_001129839.1:c.5724A>G, NM_001129840.1:c.5706A>G, NM_001129841.1:c.5706A>G, NM_001129842.1:c.5706A>G, NM_001129843.1:c.5706A>G, NM_001129844.1:c.5697A>G, NM_001129846.1:c.5673A>G, NM_001167623.1:c.5706A>G, NM_001167624.1:c.5811A>G, NM_001167625.1:c.5886A>G, NM_199460.2:c.5955A>G, NR_045725.1:n.333+3949T>C, XM_005253765.1:c.6000A>G, XM_005253766.1:c.5964A>G, XM_005253767.1:c.5895A>G, XM_005253768.1:c.5859A>G, XM_005253769.1:c.5838A>G, XM_005253770.1:c.5820A>G, XM_005253771.1:c.5820A>G, XM_005253772.1:c.5799A>G, XM_005253773.1:c.5775A>G, XM_005253774.1:c.5772A>G, XM_005253775.1:c.5772A>G, XM_005253776.1:c.5772A>G, XM_005253777.1:c.5766A>G, XM_005253778.1:c.5739A>G, XM_005253779.1:VOUS04/30/2015
90CACNA1CEx45NM_000719.6:c.5731G>Cp.Gly1911Arg | p.G1911RNM_000719.6:c.5731G>C, NM_001129827.1:c.5875G>C, NM_001129829.1:c.5854G>C, NM_001129830.1:c.5836G>C, NM_001129831.1:c.5815G>C, NM_001129832.1:c.5791G>C, NM_001129833.1:c.5788G>C, NM_001129834.1:c.5788G>C, NM_001129835.1:c.5788G>C, NM_001129836.1:c.5782G>C, NM_001129837.1:c.5755G>C, NM_001129838.1:c.5755G>C, NM_001129839.1:c.5749G>C, NM_001129840.1:c.5731G>C, NM_001129841.1:c.5731G>C, NM_001129842.1:c.5731G>C, NM_001129843.1:c.5731G>C, NM_001129844.1:c.5722G>C, NM_001129846.1:c.5698G>C, NM_001167623.1:c.5731G>C, NM_001167624.1:c.5836G>C, NM_001167625.1:c.5911G>C, NM_199460.2:c.5980G>C, NR_045725.1:n.333+3924C>G, XM_005253765.1:c.6025G>C, XM_005253766.1:c.5989G>C, XM_005253767.1:c.5920G>C, XM_005253768.1:c.5884G>C, XM_005253769.1:c.5863G>C, XM_005253770.1:c.5845G>C, XM_005253771.1:c.5845G>C, XM_005253772.1:c.5824G>C, XM_005253773.1:c.5800G>C, XM_005253774.1:c.5797G>C, XM_005253775.1:c.5797G>C, XM_005253776.1:c.5797G>C, XM_005253777.1:c.5791G>C, XM_005253778.1:c.5764G>C, XM_005253779.1:VOUS02/02/2015
91CACNA1CEx45NM_000719.6:c.5772G>Cp.Leu1924= | p.L1924=NM_000719.6:c.5772G>C, NM_001129827.1:c.5916G>C, NM_001129829.1:c.5895G>C, NM_001129830.1:c.5877G>C, NM_001129831.1:c.5856G>C, NM_001129832.1:c.5832G>C, NM_001129833.1:c.5829G>C, NM_001129834.1:c.5829G>C, NM_001129835.1:c.5829G>C, NM_001129836.1:c.5823G>C, NM_001129837.1:c.5796G>C, NM_001129838.1:c.5796G>C, NM_001129839.1:c.5790G>C, NM_001129840.1:c.5772G>C, NM_001129841.1:c.5772G>C, NM_001129842.1:c.5772G>C, NM_001129843.1:c.5772G>C, NM_001129844.1:c.5763G>C, NM_001129846.1:c.5739G>C, NM_001167623.1:c.5772G>C, NM_001167624.1:c.5877G>C, NM_001167625.1:c.5952G>C, NM_199460.2:c.6021G>C, NR_045725.1:n.333+3883C>G, XM_005253765.1:c.6066G>C, XM_005253766.1:c.6030G>C, XM_005253767.1:c.5961G>C, XM_005253768.1:c.5925G>C, XM_005253769.1:c.5904G>C, XM_005253770.1:c.5886G>C, XM_005253771.1:c.5886G>C, XM_005253772.1:c.5865G>C, XM_005253773.1:c.5841G>C, XM_005253774.1:c.5838G>C, XM_005253775.1:c.5838G>C, XM_005253776.1:c.5838G>C, XM_005253777.1:c.5832G>C, XM_005253778.1:c.5805G>C, XM_005253779.1:VOUS08/20/2014
92CACNA1CEx46NM_000719.6:c.5918G>Ap.Arg1973Gln | p.R1973QLRG_334t1:c.5918G>A, LRG_334t2:c.6062G>A, LRG_334t3:c.6023G>A, LRG_334t4:c.5918G>A, NM_000719.6:c.5918G>A, NM_001129827.1:c.6062G>A, NM_001129829.1:c.6041G>A, NM_001129830.1:c.6023G>A, NM_001129831.1:c.6002G>A, NM_001129832.1:c.5978G>A, NM_001129833.1:c.5975G>A, NM_001129834.1:c.5975G>A, NM_001129835.1:c.5975G>A, NM_001129836.1:c.5969G>A, NM_001129837.1:c.5942G>A, NM_001129838.1:c.5942G>A, NM_001129839.1:c.5936G>A, NM_001129840.1:c.5918G>A, NM_001129841.1:c.5918G>A, NM_001129842.1:c.5918G>A, NM_001129843.1:c.5918G>A, NM_001129844.1:c.5909G>A, NM_001129846.1:c.5885G>A, NM_001167623.1:c.5918G>A, NM_001167624.1:c.6023G>A, NM_001167625.1:c.6098G>A, NM_199460.2:c.6167G>A, NR_045725.1:n.333+1560C>T, XM_005253765.1:c.6212G>A, XM_005253766.1:c.6176G>A, XM_005253767.1:c.6107G>A, XM_005253768.1:c.6071G>A, XM_005253769.1:c.6050G>A, XM_005253770.1:c.6032G>A, XM_005253771.1:c.6032G>A, XM_005253772.1:c.6011G>A, XM_005253773.1:c.5987G>A, XM_005253774.1:c.5984G>A, XM_005253775.1:c.5984G>A, XM_005253Benign06/21/2016 
93CACNA1CEx46NM_000719.6:c.6040G>Ap.Val2014Ile | p.V2014INM_000719.6:c.6040G>A, NM_001129827.1:c.6184G>A, NM_001129829.1:c.6163G>A, NM_001129830.1:c.6145G>A, NM_001129831.1:c.6124G>A, NM_001129832.1:c.6100G>A, NM_001129833.1:c.6097G>A, NM_001129834.1:c.6097G>A, NM_001129835.1:c.6097G>A, NM_001129836.1:c.6091G>A, NM_001129837.1:c.6064G>A, NM_001129838.1:c.6064G>A, NM_001129839.1:c.6058G>A, NM_001129840.1:c.6040G>A, NM_001129841.1:c.6040G>A, NM_001129842.1:c.6040G>A, NM_001129843.1:c.6040G>A, NM_001129844.1:c.6031G>A, NM_001129846.1:c.6007G>A, NM_001167623.1:c.6040G>A, NM_001167624.1:c.6145G>A, NM_001167625.1:c.6220G>A, NM_199460.2:c.6289G>A, NR_045725.1:n.333+1438C>T, XM_005253765.1:c.6334G>A, XM_005253766.1:c.6298G>A, XM_005253767.1:c.6229G>A, XM_005253768.1:c.6193G>A, XM_005253769.1:c.6172G>A, XM_005253770.1:c.6154G>A, XM_005253771.1:c.6154G>A, XM_005253772.1:c.6133G>A, XM_005253773.1:c.6109G>A, XM_005253774.1:c.6106G>A, XM_005253775.1:c.6106G>A, XM_005253776.1:c.6106G>A, XM_005253777.1:c.6100G>A, XM_005253778.1:c.6073G>A, XM_005253779.1:VOUS03/11/2015
94CACNA1CEx46NM_000719.6:c.6090C>Tp.His2030= | p.H2030=NM_000719.6:c.6090C>T, NM_001129827.1:c.6234C>T, NM_001129829.1:c.6213C>T, NM_001129830.1:c.6195C>T, NM_001129831.1:c.6174C>T, NM_001129832.1:c.6150C>T, NM_001129833.1:c.6147C>T, NM_001129834.1:c.6147C>T, NM_001129835.1:c.6147C>T, NM_001129836.1:c.6141C>T, NM_001129837.1:c.6114C>T, NM_001129838.1:c.6114C>T, NM_001129839.1:c.6108C>T, NM_001129840.1:c.6090C>T, NM_001129841.1:c.6090C>T, NM_001129842.1:c.6090C>T, NM_001129843.1:c.6090C>T, NM_001129844.1:c.6081C>T, NM_001129846.1:c.6057C>T, NM_001167623.1:c.6090C>T, NM_001167624.1:c.6195C>T, NM_001167625.1:c.6270C>T, NM_199460.2:c.6339C>T, NR_045725.1:n.333+1388G>A, XM_005253765.1:c.6384C>T, XM_005253766.1:c.6348C>T, XM_005253767.1:c.6279C>T, XM_005253768.1:c.6243C>T, XM_005253769.1:c.6222C>T, XM_005253770.1:c.6204C>T, XM_005253771.1:c.6204C>T, XM_005253772.1:c.6183C>T, XM_005253773.1:c.6159C>T, XM_005253774.1:c.6156C>T, XM_005253775.1:c.6156C>T, XM_005253776.1:c.6156C>T, XM_005253777.1:c.6150C>T, XM_005253778.1:c.6123C>T, XM_005253779.1:VOUS09/25/2015
95CACNA1CEx46NM_000719.6:c.6116C>Gp.Ala2039Gly | p.A2039GNM_000719.6:c.6116C>G, NM_001129827.1:c.6260C>G, NM_001129829.1:c.6239C>G, NM_001129830.1:c.6221C>G, NM_001129831.1:c.6200C>G, NM_001129832.1:c.6176C>G, NM_001129833.1:c.6173C>G, NM_001129834.1:c.6173C>G, NM_001129835.1:c.6173C>G, NM_001129836.1:c.6167C>G, NM_001129837.1:c.6140C>G, NM_001129838.1:c.6140C>G, NM_001129839.1:c.6134C>G, NM_001129840.1:c.6116C>G, NM_001129841.1:c.6116C>G, NM_001129842.1:c.6116C>G, NM_001129843.1:c.6116C>G, NM_001129844.1:c.6107C>G, NM_001129846.1:c.6083C>G, NM_001167623.1:c.6116C>G, NM_001167624.1:c.6221C>G, NM_001167625.1:c.6296C>G, NM_199460.2:c.6365C>G, NR_045725.1:n.333+1362G>C, XM_005253765.1:c.6410C>G, XM_005253766.1:c.6374C>G, XM_005253767.1:c.6305C>G, XM_005253768.1:c.6269C>G, XM_005253769.1:c.6248C>G, XM_005253770.1:c.6230C>G, XM_005253771.1:c.6230C>G, XM_005253772.1:c.6209C>G, XM_005253773.1:c.6185C>G, XM_005253774.1:c.6182C>G, XM_005253775.1:c.6182C>G, XM_005253776.1:c.6182C>G, XM_005253777.1:c.6176C>G, XM_005253778.1:c.6149C>G, XM_005253779.1:VOUS01/05/2015
96CACNA1CEx47NM_000719.6:c.6161A>Gp.Lys2054Arg | p.K2054RNM_000719.6:c.6161A>G, NM_001129827.1:c.6305A>G, NM_001129829.1:c.6284A>G, NM_001129830.1:c.6266A>G, NM_001129831.1:c.6245A>G, NM_001129832.1:c.6221A>G, NM_001129833.1:c.6218A>G, NM_001129834.1:c.6218A>G, NM_001129835.1:c.6218A>G, NM_001129836.1:c.6212A>G, NM_001129837.1:c.6185A>G, NM_001129838.1:c.6185A>G, NM_001129839.1:c.6179A>G, NM_001129840.1:c.6161A>G, NM_001129841.1:c.6161A>G, NM_001129842.1:c.6161A>G, NM_001129843.1:c.6161A>G, NM_001129844.1:c.6152A>G, NM_001129846.1:c.6128A>G, NM_001167623.1:c.6161A>G, NM_001167624.1:c.6266A>G, NM_001167625.1:c.6341A>G, NM_199460.2:c.6410A>G, NR_045725.1:n.126T>C, XM_005253765.1:c.6455A>G, XM_005253766.1:c.6419A>G, XM_005253767.1:c.6350A>G, XM_005253768.1:c.6314A>G, XM_005253769.1:c.6293A>G, XM_005253770.1:c.6275A>G, XM_005253771.1:c.6275A>G, XM_005253772.1:c.6254A>G, XM_005253773.1:c.6230A>G, XM_005253774.1:c.6227A>G, XM_005253775.1:c.6227A>G, XM_005253776.1:c.6227A>G, XM_005253777.1:c.6221A>G, XM_005253778.1:c.6194A>G, XM_005253779.1:c.619VOUS06/03/2014
97CACNA1CEx47NM_000719.6:c.6338A>Cp.Asp2113Ala | p.D2113ALRG_334t1:c.6338A>C, LRG_334t2:c.6482A>C, LRG_334t3:c.6443A>C, LRG_334t4:c.6338A>C, NM_000719.6:c.6338A>C, NM_001129827.1:c.6482A>C, NM_001129829.1:c.6461A>C, NM_001129830.1:c.6443A>C, NM_001129831.1:c.6422A>C, NM_001129832.1:c.6398A>C, NM_001129833.1:c.6395A>C, NM_001129834.1:c.6395A>C, NM_001129835.1:c.6395A>C, NM_001129836.1:c.6389A>C, NM_001129837.1:c.6362A>C, NM_001129838.1:c.6362A>C, NM_001129839.1:c.6356A>C, NM_001129840.1:c.6338A>C, NM_001129841.1:c.6338A>C, NM_001129842.1:c.6338A>C, NM_001129843.1:c.6338A>C, NM_001129844.1:c.6329A>C, NM_001129846.1:c.6305A>C, NM_001167623.1:c.6338A>C, NM_001167624.1:c.6443A>C, NM_001167625.1:c.6518A>C, NM_199460.2:c.6587A>C, NR_045725.1:n.38T>G, XM_005253765.1:c.6632A>C, XM_005253766.1:c.6596A>C, XM_005253767.1:c.6527A>C, XM_005253768.1:c.6491A>C, XM_005253769.1:c.6470A>C, XM_005253770.1:c.6452A>C, XM_005253771.1:c.6452A>C, XM_005253772.1:c.6431A>C, XM_005253773.1:c.6407A>C, XM_005253774.1:c.6404A>C, XM_005253775.1:c.6404A>C, XM_005253776.1:VOUS04/24/2017
98CACNA1CEx2NM_001129837.1:c.363C>Tp.Val121= | p.V121=NM_000719.6:c.363C>T, NM_001129827.1:c.363C>T, NM_001129829.1:c.363C>T, NM_001129830.1:c.363C>T, NM_001129831.1:c.363C>T, NM_001129832.1:c.363C>T, NM_001129833.1:c.363C>T, NM_001129834.1:c.363C>T, NM_001129835.1:c.363C>T, NM_001129836.1:c.363C>T, NM_001129837.1:c.363C>T, NM_001129838.1:c.363C>T, NM_001129839.1:c.363C>T, NM_001129840.1:c.363C>T, NM_001129841.1:c.363C>T, NM_001129842.1:c.363C>T, NM_001129843.1:c.363C>T, NM_001129844.1:c.363C>T, NM_001129846.1:c.363C>T, NM_001167623.1:c.363C>T, NM_001167624.1:c.363C>T, NM_001167625.1:c.363C>T, NM_199460.2:c.363C>T, XM_005253765.1:c.453C>T, XM_005253766.1:c.363C>T, XM_005253767.1:c.363C>T, XM_005253768.1:c.363C>T, XM_005253769.1:c.363C>T, XM_005253770.1:c.363C>T, XM_005253771.1:c.363C>T, XM_005253772.1:c.363C>T, XM_005253773.1:c.363C>T, XM_005253774.1:c.363C>T, XM_005253775.1:c.363C>T, XM_005253776.1:c.363C>T, XM_005253777.1:c.363C>T, XM_005253778.1:c.363C>T, XM_005253779.1:c.363C>T, XM_005253780.1:c.363C>T, XM_005253781.1:c.363C>T, XM_0VOUS08/06/2015
99CACNA1CEx9NM_001129837.1:c.1341C>Tp.Ile447= | p.I447=NM_000719.6:c.1341C>T, NM_001129827.1:c.1341C>T, NM_001129829.1:c.1341C>T, NM_001129830.1:c.1341C>T, NM_001129831.1:c.1341C>T, NM_001129832.1:c.1341C>T, NM_001129833.1:c.1341C>T, NM_001129834.1:c.1341C>T, NM_001129835.1:c.1341C>T, NM_001129836.1:c.1341C>T, NM_001129837.1:c.1341C>T, NM_001129838.1:c.1341C>T, NM_001129839.1:c.1341C>T, NM_001129840.1:c.1341C>T, NM_001129841.1:c.1341C>T, NM_001129842.1:c.1341C>T, NM_001129843.1:c.1341C>T, NM_001129844.1:c.1332C>T, NM_001129846.1:c.1341C>T, NM_001167623.1:c.1341C>T, NM_001167624.1:c.1341C>T, NM_001167625.1:c.1341C>T, NM_199460.2:c.1341C>T, XM_005253765.1:c.1431C>T, XM_005253766.1:c.1350C>T, XM_005253767.1:c.1350C>T, XM_005253768.1:c.1350C>T, XM_005253769.1:c.1350C>T, XM_005253770.1:c.1350C>T, XM_005253771.1:c.1350C>T, XM_005253772.1:c.1350C>T, XM_005253773.1:c.1350C>T, XM_005253774.1:c.1350C>T, XM_005253775.1:c.1350C>T, XM_005253776.1:c.1350C>T, XM_005253777.1:c.1350C>T, XM_005253778.1:c.1350C>T, XM_005253779.1:c.1350C>T, XM_005253780.1:cVOUS07/30/2015
100CACNA1CEx10NM_001129837.1:c.1468G>Ap.Gly490Arg | p.G490RNM_000719.6:c.1468G>A, NM_001129827.1:c.1468G>A, NM_001129829.1:c.1468G>A, NM_001129830.1:c.1468G>A, NM_001129831.1:c.1468G>A, NM_001129832.1:c.1468G>A, NM_001129833.1:c.1468G>A, NM_001129834.1:c.1468G>A, NM_001129835.1:c.1468G>A, NM_001129836.1:c.1468G>A, NM_001129837.1:c.1468G>A, NM_001129838.1:c.1468G>A, NM_001129839.1:c.1468G>A, NM_001129840.1:c.1468G>A, NM_001129841.1:c.1468G>A, NM_001129842.1:c.1468G>A, NM_001129843.1:c.1468G>A, NM_001129844.1:c.1459G>A, NM_001129846.1:c.1468G>A, NM_001167623.1:c.1468G>A, NM_001167624.1:c.1468G>A, NM_001167625.1:c.1468G>A, NM_199460.2:c.1468G>A, XM_005253765.1:c.1558G>A, XM_005253766.1:c.1477G>A, XM_005253767.1:c.1477G>A, XM_005253768.1:c.1477G>A, XM_005253769.1:c.1477G>A, XM_005253770.1:c.1477G>A, XM_005253771.1:c.1477G>A, XM_005253772.1:c.1477G>A, XM_005253773.1:c.1477G>A, XM_005253774.1:c.1477G>A, XM_005253775.1:c.1477G>A, XM_005253776.1:c.1477G>A, XM_005253777.1:c.1477G>A, XM_005253778.1:c.1477G>A, XM_005253779.1:c.1477G>A, XM_005253780.1:cVOUS08/26/2015
101CACNA1CEx17NM_001129837.1:c.2449C>Tp.Pro817Ser | p.P817SNM_000719.6:c.2449C>T, NM_001129827.1:c.2449C>T, NM_001129829.1:c.2449C>T, NM_001129830.1:c.2449C>T, NM_001129831.1:c.2449C>T, NM_001129832.1:c.2449C>T, NM_001129833.1:c.2449C>T, NM_001129834.1:c.2449C>T, NM_001129835.1:c.2449C>T, NM_001129836.1:c.2449C>T, NM_001129837.1:c.2449C>T, NM_001129838.1:c.2449C>T, NM_001129839.1:c.2449C>T, NM_001129840.1:c.2449C>T, NM_001129841.1:c.2449C>T, NM_001129842.1:c.2449C>T, NM_001129843.1:c.2449C>T, NM_001129844.1:c.2440C>T, NM_001129846.1:c.2449C>T, NM_001167623.1:c.2449C>T, NM_001167624.1:c.2449C>T, NM_001167625.1:c.2449C>T, NM_199460.2:c.2449C>T, XM_005253765.1:c.2659C>T, XM_005253766.1:c.2458C>T, XM_005253767.1:c.2458C>T, XM_005253768.1:c.2458C>T, XM_005253769.1:c.2458C>T, XM_005253770.1:c.2458C>T, XM_005253771.1:c.2458C>T, XM_005253772.1:c.2458C>T, XM_005253773.1:c.2458C>T, XM_005253774.1:c.2458C>T, XM_005253775.1:c.2458C>T, XM_005253776.1:c.2458C>T, XM_005253777.1:c.2458C>T, XM_005253778.1:c.2458C>T, XM_005253779.1:c.2458C>T, XM_005253780.1:cLikely benign06/22/2017 
102CACNA1CEx26NM_001129837.1:c.3234C>Tp.Asp1078= | p.D1078=NM_000719.6:c.3234C>T, NM_001129827.1:c.3294C>T, NM_001129829.1:c.3234C>T, NM_001129830.1:c.3234C>T, NM_001129831.1:c.3234C>T, NM_001129832.1:c.3294C>T, NM_001129833.1:c.3234C>T, NM_001129834.1:c.3234C>T, NM_001129835.1:c.3234C>T, NM_001129836.1:c.3234C>T, NM_001129837.1:c.3234C>T, NM_001129838.1:c.3234C>T, NM_001129839.1:c.3234C>T, NM_001129840.1:c.3234C>T, NM_001129841.1:c.3234C>T, NM_001129842.1:c.3234C>T, NM_001129843.1:c.3234C>T, NM_001129844.1:c.3225C>T, NM_001129846.1:c.3234C>T, NM_001167623.1:c.3234C>T, NM_001167624.1:c.3234C>T, NM_001167625.1:c.3234C>T, NM_199460.2:c.3294C>T, XM_005253765.1:c.3444C>T, XM_005253766.1:c.3303C>T, XM_005253767.1:c.3243C>T, XM_005253768.1:c.3303C>T, XM_005253769.1:c.3243C>T, XM_005253770.1:c.3243C>T, XM_005253771.1:c.3243C>T, XM_005253772.1:c.3243C>T, XM_005253773.1:c.3303C>T, XM_005253774.1:c.3243C>T, XM_005253775.1:c.3243C>T, XM_005253776.1:c.3243C>T, XM_005253777.1:c.3243C>T, XM_005253778.1:c.3243C>T, XM_005253779.1:c.3243C>T, XM_005253780.1:cVOUS09/29/2015
103CACNA1CEx37NM_001129837.1:c.4591-9C>TNM_000719.6:c.4624-9C>T, NM_001129827.1:c.4768-9C>T, NM_001129829.1:c.4690-9C>T, NM_001129830.1:c.4624-9C>T, NM_001129831.1:c.4708-9C>T, NM_001129832.1:c.4684-9C>T, NM_001129833.1:c.4624-9C>T, NM_001129834.1:c.4624-9C>T, NM_001129835.1:c.4624-9C>T, NM_001129836.1:c.4675-9C>T, NM_001129837.1:c.4591-9C>T, NM_001129838.1:c.4591-9C>T, NM_001129839.1:c.4585-9C>T, NM_001129840.1:c.4624-9C>T, NM_001129841.1:c.4624-9C>T, NM_001129842.1:c.4624-9C>T, NM_001129843.1:c.4624-9C>T, NM_001129844.1:c.4615-9C>T, NM_001129846.1:c.4591-9C>T, NM_001167623.1:c.4624-9C>T, NM_001167624.1:c.4624-9C>T, NM_001167625.1:c.4591-9C>T, NM_199460.2:c.4768-9C>T, XM_005253765.1:c.4918-9C>T, XM_005253766.1:c.4777-9C>T, XM_005253767.1:c.4600-9C>T, XM_005253768.1:c.4777-9C>T, XM_005253769.1:c.4699-9C>T, XM_005253770.1:c.4633-9C>T, XM_005253771.1:c.4633-9C>T, XM_005253772.1:c.4717-9C>T, XM_005253773.1:c.4693-9C>T, XM_005253774.1:c.4633-9C>T, XM_005253775.1:c.4633-9C>T, XM_005253776.1:c.4633-9C>T, XM_005253777.1:c.4684-9CBenign10/06/2015 
104CACNA1CEx38NM_001129837.1:c.4745C>Tp.Pro1582Leu | p.P1582LNM_000719.6:c.4727-6C>T, NM_001129827.1:c.4871-6C>T, NM_001129829.1:c.4844C>T, NM_001129830.1:c.4727-6C>T, NM_001129831.1:c.4811-6C>T, NM_001129832.1:c.4787-6C>T, NM_001129833.1:c.4778C>T, NM_001129834.1:c.4778C>T, NM_001129835.1:c.4778C>T, NM_001129836.1:c.4778-6C>T, NM_001129837.1:c.4745C>T, NM_001129838.1:c.4745C>T, NM_001129839.1:c.4739C>T, NM_001129840.1:c.4727-6C>T, NM_001129841.1:c.4727-6C>T, NM_001129842.1:c.4727-6C>T, NM_001129843.1:c.4727-6C>T, NM_001129844.1:c.4718-6C>T, NM_001129846.1:c.4694-6C>T, NM_001167623.1:c.4727-6C>T, NM_001167624.1:c.4727-6C>T, NM_001167625.1:c.4694-6C>T, NM_199460.2:c.4871-6C>T, NR_045725.1:n.*1466G>A, XM_005253765.1:c.5021-6C>T, XM_005253766.1:c.4880-6C>T, XM_005253767.1:c.4703-6C>T, XM_005253768.1:c.4880-6C>T, XM_005253769.1:c.4853C>T, XM_005253770.1:c.4736-6C>T, XM_005253771.1:c.4736-6C>T, XM_005253772.1:c.4820-6C>T, XM_005253773.1:c.4796-6C>T, XM_005253774.1:c.4787C>T, XM_005253775.1:c.4787C>T, XM_005253776.1:c.4787C>T, XM_005253777.1:c.4787-VOUS07/15/2015
105CACNA1CEx39NM_001129837.1:c.4853-7G>ANM_000719.6:c.4829-7G>A, NM_001129827.1:c.4973-7G>A, NM_001129829.1:c.4952-7G>A, NM_001129830.1:c.4829-7G>A, NM_001129831.1:c.4913-7G>A, NM_001129832.1:c.4889-7G>A, NM_001129833.1:c.4886-7G>A, NM_001129834.1:c.4886-7G>A, NM_001129835.1:c.4886-7G>A, NM_001129836.1:c.4880-7G>A, NM_001129837.1:c.4853-7G>A, NM_001129838.1:c.4853-7G>A, NM_001129839.1:c.4847-7G>A, NM_001129840.1:c.4829-7G>A, NM_001129841.1:c.4829-7G>A, NM_001129842.1:c.4829-7G>A, NM_001129843.1:c.4829-7G>A, NM_001129844.1:c.4820-7G>A, NM_001129846.1:c.4796-7G>A, NM_001167623.1:c.4829-7G>A, NM_001167624.1:c.4829-7G>A, NM_001167625.1:c.4796-7G>A, NM_199460.2:c.4973-7G>A, NR_045725.1:n.1144C>T, XM_005253765.1:c.5123-7G>A, XM_005253766.1:c.4982-7G>A, XM_005253767.1:c.4805-7G>A, XM_005253768.1:c.4982-7G>A, XM_005253769.1:c.4961-7G>A, XM_005253770.1:c.4838-7G>A, XM_005253771.1:c.4838-7G>A, XM_005253772.1:c.4922-7G>A, XM_005253773.1:c.4898-7G>A, XM_005253774.1:c.4895-7G>A, XM_005253775.1:c.4895-7G>A, XM_005253776.1:c.4895-7G>A, XBenign10/06/2015 
106CACNA1CEx41NM_001129837.1:c.5164G>Ap.Gly1722Ser | p.G1722SNM_000719.6:c.5140G>A, NM_001129827.1:c.5284G>A, NM_001129829.1:c.5263G>A, NM_001129830.1:c.5140G>A, NM_001129831.1:c.5224G>A, NM_001129832.1:c.5200G>A, NM_001129833.1:c.5197G>A, NM_001129834.1:c.5197G>A, NM_001129835.1:c.5197G>A, NM_001129836.1:c.5191G>A, NM_001129837.1:c.5164G>A, NM_001129838.1:c.5164G>A, NM_001129839.1:c.5158G>A, NM_001129840.1:c.5140G>A, NM_001129841.1:c.5140G>A, NM_001129842.1:c.5140G>A, NM_001129843.1:c.5140G>A, NM_001129844.1:c.5131G>A, NM_001129846.1:c.5107G>A, NM_001167623.1:c.5140G>A, NM_001167624.1:c.5140G>A, NM_001167625.1:c.5107G>A, NM_199460.2:c.5284G>A, NR_045725.1:n.334-1595C>T, XM_005253765.1:c.5434G>A, XM_005253766.1:c.5293G>A, XM_005253767.1:c.5116G>A, XM_005253768.1:c.5293G>A, XM_005253769.1:c.5272G>A, XM_005253770.1:c.5149G>A, XM_005253771.1:c.5149G>A, XM_005253772.1:c.5233G>A, XM_005253773.1:c.5209G>A, XM_005253774.1:c.5206G>A, XM_005253775.1:c.5206G>A, XM_005253776.1:c.5206G>A, XM_005253777.1:c.5200G>A, XM_005253778.1:c.5173G>A, XM_005253779.1:VOUS08/06/2015
107CACNA1CEx43NM_001129837.1:c.5689C>Tp.Arg1897Cys | p.R1897CNM_000719.6:c.5665C>T, NM_001129827.1:c.5809C>T, NM_001129829.1:c.5788C>T, NM_001129830.1:c.5770C>T, NM_001129831.1:c.5749C>T, NM_001129832.1:c.5725C>T, NM_001129833.1:c.5722C>T, NM_001129834.1:c.5722C>T, NM_001129835.1:c.5722C>T, NM_001129836.1:c.5716C>T, NM_001129837.1:c.5689C>T, NM_001129838.1:c.5689C>T, NM_001129839.1:c.5683C>T, NM_001129840.1:c.5665C>T, NM_001129841.1:c.5665C>T, NM_001129842.1:c.5665C>T, NM_001129843.1:c.5665C>T, NM_001129844.1:c.5656C>T, NM_001129846.1:c.5632C>T, NM_001167623.1:c.5665C>T, NM_001167624.1:c.5770C>T, NM_001167625.1:c.5845C>T, NM_199460.2:c.5914C>T, NR_045725.1:n.333+4313G>A, XM_005253765.1:c.5959C>T, XM_005253766.1:c.5923C>T, XM_005253767.1:c.5854C>T, XM_005253768.1:c.5818C>T, XM_005253769.1:c.5797C>T, XM_005253770.1:c.5779C>T, XM_005253771.1:c.5779C>T, XM_005253772.1:c.5758C>T, XM_005253773.1:c.5734C>T, XM_005253774.1:c.5731C>T, XM_005253775.1:c.5731C>T, XM_005253776.1:c.5731C>T, XM_005253777.1:c.5725C>T, XM_005253778.1:c.5698C>T, XM_005253779.1:Benign07/14/2015 
108CACNA1CEx2NM_001167625.1:c.363C>Tp.Val121= | p.V121=NM_000719.6:c.363C>T, NM_001129827.1:c.363C>T, NM_001129829.1:c.363C>T, NM_001129830.1:c.363C>T, NM_001129831.1:c.363C>T, NM_001129832.1:c.363C>T, NM_001129833.1:c.363C>T, NM_001129834.1:c.363C>T, NM_001129835.1:c.363C>T, NM_001129836.1:c.363C>T, NM_001129837.1:c.363C>T, NM_001129838.1:c.363C>T, NM_001129839.1:c.363C>T, NM_001129840.1:c.363C>T, NM_001129841.1:c.363C>T, NM_001129842.1:c.363C>T, NM_001129843.1:c.363C>T, NM_001129844.1:c.363C>T, NM_001129846.1:c.363C>T, NM_001167623.1:c.363C>T, NM_001167624.1:c.363C>T, NM_001167625.1:c.363C>T, NM_199460.2:c.363C>T, XM_005253765.1:c.453C>T, XM_005253766.1:c.363C>T, XM_005253767.1:c.363C>T, XM_005253768.1:c.363C>T, XM_005253769.1:c.363C>T, XM_005253770.1:c.363C>T, XM_005253771.1:c.363C>T, XM_005253772.1:c.363C>T, XM_005253773.1:c.363C>T, XM_005253774.1:c.363C>T, XM_005253775.1:c.363C>T, XM_005253776.1:c.363C>T, XM_005253777.1:c.363C>T, XM_005253778.1:c.363C>T, XM_005253779.1:c.363C>T, XM_005253780.1:c.363C>T, XM_005253781.1:c.363C>T, XM_0VOUS08/06/2015
109CACNA1CEx9NM_001167625.1:c.1341C>Tp.Ile447= | p.I447=NM_000719.6:c.1341C>T, NM_001129827.1:c.1341C>T, NM_001129829.1:c.1341C>T, NM_001129830.1:c.1341C>T, NM_001129831.1:c.1341C>T, NM_001129832.1:c.1341C>T, NM_001129833.1:c.1341C>T, NM_001129834.1:c.1341C>T, NM_001129835.1:c.1341C>T, NM_001129836.1:c.1341C>T, NM_001129837.1:c.1341C>T, NM_001129838.1:c.1341C>T, NM_001129839.1:c.1341C>T, NM_001129840.1:c.1341C>T, NM_001129841.1:c.1341C>T, NM_001129842.1:c.1341C>T, NM_001129843.1:c.1341C>T, NM_001129844.1:c.1332C>T, NM_001129846.1:c.1341C>T, NM_001167623.1:c.1341C>T, NM_001167624.1:c.1341C>T, NM_001167625.1:c.1341C>T, NM_199460.2:c.1341C>T, XM_005253765.1:c.1431C>T, XM_005253766.1:c.1350C>T, XM_005253767.1:c.1350C>T, XM_005253768.1:c.1350C>T, XM_005253769.1:c.1350C>T, XM_005253770.1:c.1350C>T, XM_005253771.1:c.1350C>T, XM_005253772.1:c.1350C>T, XM_005253773.1:c.1350C>T, XM_005253774.1:c.1350C>T, XM_005253775.1:c.1350C>T, XM_005253776.1:c.1350C>T, XM_005253777.1:c.1350C>T, XM_005253778.1:c.1350C>T, XM_005253779.1:c.1350C>T, XM_005253780.1:cVOUS07/30/2015
110CACNA1CEx10NM_001167625.1:c.1468G>Ap.Gly490Arg | p.G490RNM_000719.6:c.1468G>A, NM_001129827.1:c.1468G>A, NM_001129829.1:c.1468G>A, NM_001129830.1:c.1468G>A, NM_001129831.1:c.1468G>A, NM_001129832.1:c.1468G>A, NM_001129833.1:c.1468G>A, NM_001129834.1:c.1468G>A, NM_001129835.1:c.1468G>A, NM_001129836.1:c.1468G>A, NM_001129837.1:c.1468G>A, NM_001129838.1:c.1468G>A, NM_001129839.1:c.1468G>A, NM_001129840.1:c.1468G>A, NM_001129841.1:c.1468G>A, NM_001129842.1:c.1468G>A, NM_001129843.1:c.1468G>A, NM_001129844.1:c.1459G>A, NM_001129846.1:c.1468G>A, NM_001167623.1:c.1468G>A, NM_001167624.1:c.1468G>A, NM_001167625.1:c.1468G>A, NM_199460.2:c.1468G>A, XM_005253765.1:c.1558G>A, XM_005253766.1:c.1477G>A, XM_005253767.1:c.1477G>A, XM_005253768.1:c.1477G>A, XM_005253769.1:c.1477G>A, XM_005253770.1:c.1477G>A, XM_005253771.1:c.1477G>A, XM_005253772.1:c.1477G>A, XM_005253773.1:c.1477G>A, XM_005253774.1:c.1477G>A, XM_005253775.1:c.1477G>A, XM_005253776.1:c.1477G>A, XM_005253777.1:c.1477G>A, XM_005253778.1:c.1477G>A, XM_005253779.1:c.1477G>A, XM_005253780.1:cVOUS08/26/2015
111CACNA1CEx26NM_001167625.1:c.3234C>Tp.Asp1078= | p.D1078=NM_000719.6:c.3234C>T, NM_001129827.1:c.3294C>T, NM_001129829.1:c.3234C>T, NM_001129830.1:c.3234C>T, NM_001129831.1:c.3234C>T, NM_001129832.1:c.3294C>T, NM_001129833.1:c.3234C>T, NM_001129834.1:c.3234C>T, NM_001129835.1:c.3234C>T, NM_001129836.1:c.3234C>T, NM_001129837.1:c.3234C>T, NM_001129838.1:c.3234C>T, NM_001129839.1:c.3234C>T, NM_001129840.1:c.3234C>T, NM_001129841.1:c.3234C>T, NM_001129842.1:c.3234C>T, NM_001129843.1:c.3234C>T, NM_001129844.1:c.3225C>T, NM_001129846.1:c.3234C>T, NM_001167623.1:c.3234C>T, NM_001167624.1:c.3234C>T, NM_001167625.1:c.3234C>T, NM_199460.2:c.3294C>T, XM_005253765.1:c.3444C>T, XM_005253766.1:c.3303C>T, XM_005253767.1:c.3243C>T, XM_005253768.1:c.3303C>T, XM_005253769.1:c.3243C>T, XM_005253770.1:c.3243C>T, XM_005253771.1:c.3243C>T, XM_005253772.1:c.3243C>T, XM_005253773.1:c.3303C>T, XM_005253774.1:c.3243C>T, XM_005253775.1:c.3243C>T, XM_005253776.1:c.3243C>T, XM_005253777.1:c.3243C>T, XM_005253778.1:c.3243C>T, XM_005253779.1:c.3243C>T, XM_005253780.1:cVOUS09/29/2015
112CACNA1CEx37NM_001167625.1:c.4591-9C>TNM_000719.6:c.4624-9C>T, NM_001129827.1:c.4768-9C>T, NM_001129829.1:c.4690-9C>T, NM_001129830.1:c.4624-9C>T, NM_001129831.1:c.4708-9C>T, NM_001129832.1:c.4684-9C>T, NM_001129833.1:c.4624-9C>T, NM_001129834.1:c.4624-9C>T, NM_001129835.1:c.4624-9C>T, NM_001129836.1:c.4675-9C>T, NM_001129837.1:c.4591-9C>T, NM_001129838.1:c.4591-9C>T, NM_001129839.1:c.4585-9C>T, NM_001129840.1:c.4624-9C>T, NM_001129841.1:c.4624-9C>T, NM_001129842.1:c.4624-9C>T, NM_001129843.1:c.4624-9C>T, NM_001129844.1:c.4615-9C>T, NM_001129846.1:c.4591-9C>T, NM_001167623.1:c.4624-9C>T, NM_001167624.1:c.4624-9C>T, NM_001167625.1:c.4591-9C>T, NM_199460.2:c.4768-9C>T, XM_005253765.1:c.4918-9C>T, XM_005253766.1:c.4777-9C>T, XM_005253767.1:c.4600-9C>T, XM_005253768.1:c.4777-9C>T, XM_005253769.1:c.4699-9C>T, XM_005253770.1:c.4633-9C>T, XM_005253771.1:c.4633-9C>T, XM_005253772.1:c.4717-9C>T, XM_005253773.1:c.4693-9C>T, XM_005253774.1:c.4633-9C>T, XM_005253775.1:c.4633-9C>T, XM_005253776.1:c.4633-9C>T, XM_005253777.1:c.4684-9CBenign10/06/2015 
113CACNA1CEx38NM_001167625.1:c.4694-6C>TNM_000719.6:c.4727-6C>T, NM_001129827.1:c.4871-6C>T, NM_001129829.1:c.4844C>T, NM_001129830.1:c.4727-6C>T, NM_001129831.1:c.4811-6C>T, NM_001129832.1:c.4787-6C>T, NM_001129833.1:c.4778C>T, NM_001129834.1:c.4778C>T, NM_001129835.1:c.4778C>T, NM_001129836.1:c.4778-6C>T, NM_001129837.1:c.4745C>T, NM_001129838.1:c.4745C>T, NM_001129839.1:c.4739C>T, NM_001129840.1:c.4727-6C>T, NM_001129841.1:c.4727-6C>T, NM_001129842.1:c.4727-6C>T, NM_001129843.1:c.4727-6C>T, NM_001129844.1:c.4718-6C>T, NM_001129846.1:c.4694-6C>T, NM_001167623.1:c.4727-6C>T, NM_001167624.1:c.4727-6C>T, NM_001167625.1:c.4694-6C>T, NM_199460.2:c.4871-6C>T, NR_045725.1:n.*1466G>A, XM_005253765.1:c.5021-6C>T, XM_005253766.1:c.4880-6C>T, XM_005253767.1:c.4703-6C>T, XM_005253768.1:c.4880-6C>T, XM_005253769.1:c.4853C>T, XM_005253770.1:c.4736-6C>T, XM_005253771.1:c.4736-6C>T, XM_005253772.1:c.4820-6C>T, XM_005253773.1:c.4796-6C>T, XM_005253774.1:c.4787C>T, XM_005253775.1:c.4787C>T, XM_005253776.1:c.4787C>T, XM_005253777.1:c.4787-VOUS07/15/2015
114CACNA1CEx39NM_001167625.1:c.4796-7G>ANM_000719.6:c.4829-7G>A, NM_001129827.1:c.4973-7G>A, NM_001129829.1:c.4952-7G>A, NM_001129830.1:c.4829-7G>A, NM_001129831.1:c.4913-7G>A, NM_001129832.1:c.4889-7G>A, NM_001129833.1:c.4886-7G>A, NM_001129834.1:c.4886-7G>A, NM_001129835.1:c.4886-7G>A, NM_001129836.1:c.4880-7G>A, NM_001129837.1:c.4853-7G>A, NM_001129838.1:c.4853-7G>A, NM_001129839.1:c.4847-7G>A, NM_001129840.1:c.4829-7G>A, NM_001129841.1:c.4829-7G>A, NM_001129842.1:c.4829-7G>A, NM_001129843.1:c.4829-7G>A, NM_001129844.1:c.4820-7G>A, NM_001129846.1:c.4796-7G>A, NM_001167623.1:c.4829-7G>A, NM_001167624.1:c.4829-7G>A, NM_001167625.1:c.4796-7G>A, NM_199460.2:c.4973-7G>A, NR_045725.1:n.1144C>T, XM_005253765.1:c.5123-7G>A, XM_005253766.1:c.4982-7G>A, XM_005253767.1:c.4805-7G>A, XM_005253768.1:c.4982-7G>A, XM_005253769.1:c.4961-7G>A, XM_005253770.1:c.4838-7G>A, XM_005253771.1:c.4838-7G>A, XM_005253772.1:c.4922-7G>A, XM_005253773.1:c.4898-7G>A, XM_005253774.1:c.4895-7G>A, XM_005253775.1:c.4895-7G>A, XM_005253776.1:c.4895-7G>A, XBenign10/06/2015 
115CACNA1CEx41NM_001167625.1:c.5107G>Ap.Gly1703Ser | p.G1703SNM_000719.6:c.5140G>A, NM_001129827.1:c.5284G>A, NM_001129829.1:c.5263G>A, NM_001129830.1:c.5140G>A, NM_001129831.1:c.5224G>A, NM_001129832.1:c.5200G>A, NM_001129833.1:c.5197G>A, NM_001129834.1:c.5197G>A, NM_001129835.1:c.5197G>A, NM_001129836.1:c.5191G>A, NM_001129837.1:c.5164G>A, NM_001129838.1:c.5164G>A, NM_001129839.1:c.5158G>A, NM_001129840.1:c.5140G>A, NM_001129841.1:c.5140G>A, NM_001129842.1:c.5140G>A, NM_001129843.1:c.5140G>A, NM_001129844.1:c.5131G>A, NM_001129846.1:c.5107G>A, NM_001167623.1:c.5140G>A, NM_001167624.1:c.5140G>A, NM_001167625.1:c.5107G>A, NM_199460.2:c.5284G>A, NR_045725.1:n.334-1595C>T, XM_005253765.1:c.5434G>A, XM_005253766.1:c.5293G>A, XM_005253767.1:c.5116G>A, XM_005253768.1:c.5293G>A, XM_005253769.1:c.5272G>A, XM_005253770.1:c.5149G>A, XM_005253771.1:c.5149G>A, XM_005253772.1:c.5233G>A, XM_005253773.1:c.5209G>A, XM_005253774.1:c.5206G>A, XM_005253775.1:c.5206G>A, XM_005253776.1:c.5206G>A, XM_005253777.1:c.5200G>A, XM_005253778.1:c.5173G>A, XM_005253779.1:VOUS08/06/2015
116CACNA1CEx44NM_001167625.1:c.5845C>Tp.Arg1949Cys | p.R1949CNM_000719.6:c.5665C>T, NM_001129827.1:c.5809C>T, NM_001129829.1:c.5788C>T, NM_001129830.1:c.5770C>T, NM_001129831.1:c.5749C>T, NM_001129832.1:c.5725C>T, NM_001129833.1:c.5722C>T, NM_001129834.1:c.5722C>T, NM_001129835.1:c.5722C>T, NM_001129836.1:c.5716C>T, NM_001129837.1:c.5689C>T, NM_001129838.1:c.5689C>T, NM_001129839.1:c.5683C>T, NM_001129840.1:c.5665C>T, NM_001129841.1:c.5665C>T, NM_001129842.1:c.5665C>T, NM_001129843.1:c.5665C>T, NM_001129844.1:c.5656C>T, NM_001129846.1:c.5632C>T, NM_001167623.1:c.5665C>T, NM_001167624.1:c.5770C>T, NM_001167625.1:c.5845C>T, NM_199460.2:c.5914C>T, NR_045725.1:n.333+4313G>A, XM_005253765.1:c.5959C>T, XM_005253766.1:c.5923C>T, XM_005253767.1:c.5854C>T, XM_005253768.1:c.5818C>T, XM_005253769.1:c.5797C>T, XM_005253770.1:c.5779C>T, XM_005253771.1:c.5779C>T, XM_005253772.1:c.5758C>T, XM_005253773.1:c.5734C>T, XM_005253774.1:c.5731C>T, XM_005253775.1:c.5731C>T, XM_005253776.1:c.5731C>T, XM_005253777.1:c.5725C>T, XM_005253778.1:c.5698C>T, XM_005253779.1:Benign07/14/2015 

* 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.