Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.2593160T>ACA2838345377CACNA1Cc.2606-53T>A (n.2606-53T>A)
c.2531-53T>A (n.2531-53T>A)
c.1023-53T>A
c.2621-53T>A (n.2621-53T>A)
c.2522-53T>A (n.2522-53T>A)
c.2696-53T>A (n.2696-53T>A)
c.*1138-53T>A (n.*1138-53T>A)
c.*2151-53T>A (n.*2151-53T>A)
c.366-53T>A
c.2054-53T>A (n.2054-53T>A)
c.1691-53T>A (n.1691-53T>A)
c.1136-53T>A (n.1136-53T>A)
c.2894-53T>A (n.2894-53T>A)
c.2699-53T>A (n.2699-53T>A)
c.2774-53T>A (n.2774-53T>A)
c.2690-53T>A (n.2690-53T>A)
12g.2593160T>CCA2012308882CACNA1Cc.2606-53T>C (n.2606-53T>C)
c.2531-53T>C (n.2531-53T>C)
c.1023-53T>C
c.2621-53T>C (n.2621-53T>C)
c.2522-53T>C (n.2522-53T>C)
c.2696-53T>C (n.2696-53T>C)
c.*1138-53T>C (n.*1138-53T>C)
c.*2151-53T>C (n.*2151-53T>C)
c.366-53T>C
c.2054-53T>C (n.2054-53T>C)
c.1691-53T>C (n.1691-53T>C)
c.1136-53T>C (n.1136-53T>C)
c.2894-53T>C (n.2894-53T>C)
c.2699-53T>C (n.2699-53T>C)
c.2774-53T>C (n.2774-53T>C)
c.2690-53T>C (n.2690-53T>C)
 dbSNP gnomAD v4
12g.2593160T=CA2012308881CACNA1Cc.2606-53T= (n.2606-53T=)
c.2531-53T= (n.2531-53T=)
c.1023-53T=
c.2621-53T= (n.2621-53T=)
c.2522-53T= (n.2522-53T=)
c.2696-53T= (n.2696-53T=)
c.*1138-53T= (n.*1138-53T=)
c.*2151-53T= (n.*2151-53T=)
c.366-53T=
c.2054-53T= (n.2054-53T=)
c.1691-53T= (n.1691-53T=)
c.1136-53T= (n.1136-53T=)
c.2894-53T= (n.2894-53T=)
c.2699-53T= (n.2699-53T=)
c.2774-53T= (n.2774-53T=)
c.2690-53T= (n.2690-53T=)
12g.2593161A>CCA2575045246CACNA1Cc.2606-52A>C (n.2606-52A>C)
c.2531-52A>C (n.2531-52A>C)
c.1023-52A>C
c.2621-52A>C (n.2621-52A>C)
c.2522-52A>C (n.2522-52A>C)
c.2696-52A>C (n.2696-52A>C)
c.*1138-52A>C (n.*1138-52A>C)
c.*2151-52A>C (n.*2151-52A>C)
c.366-52A>C
c.2054-52A>C (n.2054-52A>C)
c.1691-52A>C (n.1691-52A>C)
c.1136-52A>C (n.1136-52A>C)
c.2894-52A>C (n.2894-52A>C)
c.2699-52A>C (n.2699-52A>C)
c.2774-52A>C (n.2774-52A>C)
c.2690-52A>C (n.2690-52A>C)
12g.2593164dupCA2575045245CACNA1Cc.2606-49dup (n.2606-49dup)
c.2531-49dup (n.2531-49dup)
c.1023-49dup
c.2621-49dup (n.2621-49dup)
c.2522-49dup (n.2522-49dup)
c.2696-49dup (n.2696-49dup)
c.*1138-49dup (n.*1138-49dup)
c.*2151-49dup (n.*2151-49dup)
c.366-49dup
c.2054-49dup (n.2054-49dup)
c.1691-49dup (n.1691-49dup)
c.1136-49dup (n.1136-49dup)
c.2894-49dup (n.2894-49dup)
c.2699-49dup (n.2699-49dup)
c.2774-49dup (n.2774-49dup)
c.2690-49dup (n.2690-49dup)
 gnomAD v4
12g.2593162A>GCA2617066474CACNA1Cc.2606-51A>G (n.2606-51A>G)
c.2531-51A>G (n.2531-51A>G)
c.1023-51A>G
c.2621-51A>G (n.2621-51A>G)
c.2522-51A>G (n.2522-51A>G)
c.2696-51A>G (n.2696-51A>G)
c.*1138-51A>G (n.*1138-51A>G)
c.*2151-51A>G (n.*2151-51A>G)
c.366-51A>G
c.2054-51A>G (n.2054-51A>G)
c.1691-51A>G (n.1691-51A>G)
c.1136-51A>G (n.1136-51A>G)
c.2894-51A>G (n.2894-51A>G)
c.2699-51A>G (n.2699-51A>G)
c.2774-51A>G (n.2774-51A>G)
c.2690-51A>G (n.2690-51A>G)
 gnomAD v4
12g.2593164A=CA2012308883CACNA1Cc.2606-49A= (n.2606-49A=)
c.2531-49A= (n.2531-49A=)
c.1023-49A=
c.2621-49A= (n.2621-49A=)
c.2522-49A= (n.2522-49A=)
c.2696-49A= (n.2696-49A=)
c.*1138-49A= (n.*1138-49A=)
c.*2151-49A= (n.*2151-49A=)
c.366-49A=
c.2054-49A= (n.2054-49A=)
c.1691-49A= (n.1691-49A=)
c.1136-49A= (n.1136-49A=)
c.2894-49A= (n.2894-49A=)
c.2699-49A= (n.2699-49A=)
c.2774-49A= (n.2774-49A=)
c.2690-49A= (n.2690-49A=)
12g.2593164A>GCA602712483CACNA1Cc.2606-49A>G (n.2606-49A>G)
c.2531-49A>G (n.2531-49A>G)
c.1023-49A>G
c.2621-49A>G (n.2621-49A>G)
c.2522-49A>G (n.2522-49A>G)
c.2696-49A>G (n.2696-49A>G)
c.*1138-49A>G (n.*1138-49A>G)
c.*2151-49A>G (n.*2151-49A>G)
c.366-49A>G
c.2054-49A>G (n.2054-49A>G)
c.1691-49A>G (n.1691-49A>G)
c.1136-49A>G (n.1136-49A>G)
c.2894-49A>G (n.2894-49A>G)
c.2699-49A>G (n.2699-49A>G)
c.2774-49A>G (n.2774-49A>G)
c.2690-49A>G (n.2690-49A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.2593168G>ACA2012308885CACNA1Cc.2606-45G>A (n.2606-45G>A)
c.2531-45G>A (n.2531-45G>A)
c.1023-45G>A
c.2621-45G>A (n.2621-45G>A)
c.2522-45G>A (n.2522-45G>A)
c.2696-45G>A (n.2696-45G>A)
c.*1138-45G>A (n.*1138-45G>A)
c.*2151-45G>A (n.*2151-45G>A)
c.366-45G>A
c.2054-45G>A (n.2054-45G>A)
c.1691-45G>A (n.1691-45G>A)
c.1136-45G>A (n.1136-45G>A)
c.2894-45G>A (n.2894-45G>A)
c.2699-45G>A (n.2699-45G>A)
c.2774-45G>A (n.2774-45G>A)
c.2690-45G>A (n.2690-45G>A)
 dbSNP gnomAD v4
12g.2593168G=CA2012308884CACNA1Cc.2606-45G= (n.2606-45G=)
c.2531-45G= (n.2531-45G=)
c.1023-45G=
c.2621-45G= (n.2621-45G=)
c.2522-45G= (n.2522-45G=)
c.2696-45G= (n.2696-45G=)
c.*1138-45G= (n.*1138-45G=)
c.*2151-45G= (n.*2151-45G=)
c.366-45G=
c.2054-45G= (n.2054-45G=)
c.1691-45G= (n.1691-45G=)
c.1136-45G= (n.1136-45G=)
c.2894-45G= (n.2894-45G=)
c.2699-45G= (n.2699-45G=)
c.2774-45G= (n.2774-45G=)
c.2690-45G= (n.2690-45G=)
12g.2593169T>CCA2617066475CACNA1Cc.2606-44T>C (n.2606-44T>C)
c.2531-44T>C (n.2531-44T>C)
c.1023-44T>C
c.2621-44T>C (n.2621-44T>C)
c.2522-44T>C (n.2522-44T>C)
c.2696-44T>C (n.2696-44T>C)
c.*1138-44T>C (n.*1138-44T>C)
c.*2151-44T>C (n.*2151-44T>C)
c.366-44T>C
c.2054-44T>C (n.2054-44T>C)
c.1691-44T>C (n.1691-44T>C)
c.1136-44T>C (n.1136-44T>C)
c.2894-44T>C (n.2894-44T>C)
c.2699-44T>C (n.2699-44T>C)
c.2774-44T>C (n.2774-44T>C)
c.2690-44T>C (n.2690-44T>C)
 gnomAD v4
12g.2593169T>GCA2541861872CACNA1Cc.2606-44T>G (n.2606-44T>G)
c.2531-44T>G (n.2531-44T>G)
c.1023-44T>G
c.2621-44T>G (n.2621-44T>G)
c.2522-44T>G (n.2522-44T>G)
c.2696-44T>G (n.2696-44T>G)
c.*1138-44T>G (n.*1138-44T>G)
c.*2151-44T>G (n.*2151-44T>G)
c.366-44T>G
c.2054-44T>G (n.2054-44T>G)
c.1691-44T>G (n.1691-44T>G)
c.1136-44T>G (n.1136-44T>G)
c.2894-44T>G (n.2894-44T>G)
c.2699-44T>G (n.2699-44T>G)
c.2774-44T>G (n.2774-44T>G)
c.2690-44T>G (n.2690-44T>G)
12g.2593170G>ACA6389000CACNA1Cc.2606-43G>A (n.2606-43G>A)
c.2531-43G>A (n.2531-43G>A)
c.1023-43G>A
c.2621-43G>A (n.2621-43G>A)
c.2522-43G>A (n.2522-43G>A)
c.2696-43G>A (n.2696-43G>A)
c.*1138-43G>A (n.*1138-43G>A)
c.*2151-43G>A (n.*2151-43G>A)
c.366-43G>A
c.2054-43G>A (n.2054-43G>A)
c.1691-43G>A (n.1691-43G>A)
c.1136-43G>A (n.1136-43G>A)
c.2894-43G>A (n.2894-43G>A)
c.2699-43G>A (n.2699-43G>A)
c.2774-43G>A (n.2774-43G>A)
c.2690-43G>A (n.2690-43G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2593170G=CA2012308886CACNA1Cc.2606-43G= (n.2606-43G=)
c.2531-43G= (n.2531-43G=)
c.1023-43G=
c.2621-43G= (n.2621-43G=)
c.2522-43G= (n.2522-43G=)
c.2696-43G= (n.2696-43G=)
c.*1138-43G= (n.*1138-43G=)
c.*2151-43G= (n.*2151-43G=)
c.366-43G=
c.2054-43G= (n.2054-43G=)
c.1691-43G= (n.1691-43G=)
c.1136-43G= (n.1136-43G=)
c.2894-43G= (n.2894-43G=)
c.2699-43G= (n.2699-43G=)
c.2774-43G= (n.2774-43G=)
c.2690-43G= (n.2690-43G=)
12g.2593171G>TCA2842332543CACNA1Cc.2606-42G>T (n.2606-42G>T)
c.2531-42G>T (n.2531-42G>T)
c.1023-42G>T
c.2621-42G>T (n.2621-42G>T)
c.2522-42G>T (n.2522-42G>T)
c.2696-42G>T (n.2696-42G>T)
c.*1138-42G>T (n.*1138-42G>T)
c.*2151-42G>T (n.*2151-42G>T)
c.366-42G>T
c.2054-42G>T (n.2054-42G>T)
c.1691-42G>T (n.1691-42G>T)
c.1136-42G>T (n.1136-42G>T)
c.2894-42G>T (n.2894-42G>T)
c.2699-42G>T (n.2699-42G>T)
c.2774-42G>T (n.2774-42G>T)
c.2690-42G>T (n.2690-42G>T)
12g.2593172G>ACA602712484CACNA1Cc.2606-41G>A (n.2606-41G>A)
c.2531-41G>A (n.2531-41G>A)
c.1023-41G>A
c.2621-41G>A (n.2621-41G>A)
c.2522-41G>A (n.2522-41G>A)
c.2696-41G>A (n.2696-41G>A)
c.*1138-41G>A (n.*1138-41G>A)
c.*2151-41G>A (n.*2151-41G>A)
c.366-41G>A
c.2054-41G>A (n.2054-41G>A)
c.1691-41G>A (n.1691-41G>A)
c.1136-41G>A (n.1136-41G>A)
c.2894-41G>A (n.2894-41G>A)
c.2699-41G>A (n.2699-41G>A)
c.2774-41G>A (n.2774-41G>A)
c.2690-41G>A (n.2690-41G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.2593172G=CA2012308887CACNA1Cc.2606-41G= (n.2606-41G=)
c.2531-41G= (n.2531-41G=)
c.1023-41G=
c.2621-41G= (n.2621-41G=)
c.2522-41G= (n.2522-41G=)
c.2696-41G= (n.2696-41G=)
c.*1138-41G= (n.*1138-41G=)
c.*2151-41G= (n.*2151-41G=)
c.366-41G=
c.2054-41G= (n.2054-41G=)
c.1691-41G= (n.1691-41G=)
c.1136-41G= (n.1136-41G=)
c.2894-41G= (n.2894-41G=)
c.2699-41G= (n.2699-41G=)
c.2774-41G= (n.2774-41G=)
c.2690-41G= (n.2690-41G=)
12g.2593173A>GCA2842332544CACNA1Cc.2606-40A>G (n.2606-40A>G)
c.2531-40A>G (n.2531-40A>G)
c.1023-40A>G
c.2621-40A>G (n.2621-40A>G)
c.2522-40A>G (n.2522-40A>G)
c.2696-40A>G (n.2696-40A>G)
c.*1138-40A>G (n.*1138-40A>G)
c.*2151-40A>G (n.*2151-40A>G)
c.366-40A>G
c.2054-40A>G (n.2054-40A>G)
c.1691-40A>G (n.1691-40A>G)
c.1136-40A>G (n.1136-40A>G)
c.2894-40A>G (n.2894-40A>G)
c.2699-40A>G (n.2699-40A>G)
c.2774-40A>G (n.2774-40A>G)
c.2690-40A>G (n.2690-40A>G)
12g.2593173A>TCA2842332545CACNA1Cc.2606-40A>T (n.2606-40A>T)
c.2531-40A>T (n.2531-40A>T)
c.1023-40A>T
c.2621-40A>T (n.2621-40A>T)
c.2522-40A>T (n.2522-40A>T)
c.2696-40A>T (n.2696-40A>T)
c.*1138-40A>T (n.*1138-40A>T)
c.*2151-40A>T (n.*2151-40A>T)
c.366-40A>T
c.2054-40A>T (n.2054-40A>T)
c.1691-40A>T (n.1691-40A>T)
c.1136-40A>T (n.1136-40A>T)
c.2894-40A>T (n.2894-40A>T)
c.2699-40A>T (n.2699-40A>T)
c.2774-40A>T (n.2774-40A>T)
c.2690-40A>T (n.2690-40A>T)
12g.2593174G>ACA2617066476CACNA1Cc.2606-39G>A (n.2606-39G>A)
c.2531-39G>A (n.2531-39G>A)
c.1023-39G>A
c.2621-39G>A (n.2621-39G>A)
c.2522-39G>A (n.2522-39G>A)
c.2696-39G>A (n.2696-39G>A)
c.*1138-39G>A (n.*1138-39G>A)
c.*2151-39G>A (n.*2151-39G>A)
c.366-39G>A
c.2054-39G>A (n.2054-39G>A)
c.1691-39G>A (n.1691-39G>A)
c.1136-39G>A (n.1136-39G>A)
c.2894-39G>A (n.2894-39G>A)
c.2699-39G>A (n.2699-39G>A)
c.2774-39G>A (n.2774-39G>A)
c.2690-39G>A (n.2690-39G>A)
 gnomAD v4
12g.2593174G=CA2012308888CACNA1Cc.2606-39G= (n.2606-39G=)
c.2531-39G= (n.2531-39G=)
c.1023-39G=
c.2621-39G= (n.2621-39G=)
c.2522-39G= (n.2522-39G=)
c.2696-39G= (n.2696-39G=)
c.*1138-39G= (n.*1138-39G=)
c.*2151-39G= (n.*2151-39G=)
c.366-39G=
c.2054-39G= (n.2054-39G=)
c.1691-39G= (n.1691-39G=)
c.1136-39G= (n.1136-39G=)
c.2894-39G= (n.2894-39G=)
c.2699-39G= (n.2699-39G=)
c.2774-39G= (n.2774-39G=)
c.2690-39G= (n.2690-39G=)
12g.2593174G>TCA231594220CACNA1Cc.2606-39G>T (n.2606-39G>T)
c.2531-39G>T (n.2531-39G>T)
c.1023-39G>T
c.2621-39G>T (n.2621-39G>T)
c.2522-39G>T (n.2522-39G>T)
c.2696-39G>T (n.2696-39G>T)
c.*1138-39G>T (n.*1138-39G>T)
c.*2151-39G>T (n.*2151-39G>T)
c.366-39G>T
c.2054-39G>T (n.2054-39G>T)
c.1691-39G>T (n.1691-39G>T)
c.1136-39G>T (n.1136-39G>T)
c.2894-39G>T (n.2894-39G>T)
c.2699-39G>T (n.2699-39G>T)
c.2774-39G>T (n.2774-39G>T)
c.2690-39G>T (n.2690-39G>T)
 dbSNP gnomAD v2 gnomAD v4
12g.2593176G>TCA2617066477CACNA1Cc.2606-37G>T (n.2606-37G>T)
c.2531-37G>T (n.2531-37G>T)
c.1023-37G>T
c.2621-37G>T (n.2621-37G>T)
c.2522-37G>T (n.2522-37G>T)
c.2696-37G>T (n.2696-37G>T)
c.*1138-37G>T (n.*1138-37G>T)
c.*2151-37G>T (n.*2151-37G>T)
c.366-37G>T
c.2054-37G>T (n.2054-37G>T)
c.1691-37G>T (n.1691-37G>T)
c.1136-37G>T (n.1136-37G>T)
c.2894-37G>T (n.2894-37G>T)
c.2699-37G>T (n.2699-37G>T)
c.2774-37G>T (n.2774-37G>T)
c.2690-37G>T (n.2690-37G>T)
 gnomAD v4
12g.2593179G>ACA6389001CACNA1Cc.2606-34G>A (n.2606-34G>A)
c.2531-34G>A (n.2531-34G>A)
c.1023-34G>A
c.2621-34G>A (n.2621-34G>A)
c.2522-34G>A (n.2522-34G>A)
c.2696-34G>A (n.2696-34G>A)
c.*1138-34G>A (n.*1138-34G>A)
c.*2151-34G>A (n.*2151-34G>A)
c.366-34G>A
c.2054-34G>A (n.2054-34G>A)
c.1691-34G>A (n.1691-34G>A)
c.1136-34G>A (n.1136-34G>A)
c.2894-34G>A (n.2894-34G>A)
c.2699-34G>A (n.2699-34G>A)
c.2774-34G>A (n.2774-34G>A)
c.2690-34G>A (n.2690-34G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2593179G>CCA686834298CACNA1Cc.2606-34G>C (n.2606-34G>C)
c.2531-34G>C (n.2531-34G>C)
c.1023-34G>C
c.2621-34G>C (n.2621-34G>C)
c.2522-34G>C (n.2522-34G>C)
c.2696-34G>C (n.2696-34G>C)
c.*1138-34G>C (n.*1138-34G>C)
c.*2151-34G>C (n.*2151-34G>C)
c.366-34G>C
c.2054-34G>C (n.2054-34G>C)
c.1691-34G>C (n.1691-34G>C)
c.1136-34G>C (n.1136-34G>C)
c.2894-34G>C (n.2894-34G>C)
c.2699-34G>C (n.2699-34G>C)
c.2774-34G>C (n.2774-34G>C)
c.2690-34G>C (n.2690-34G>C)
 dbSNP gnomAD v4
12g.2593179G=CA2012308889CACNA1Cc.2606-34G= (n.2606-34G=)
c.2531-34G= (n.2531-34G=)
c.1023-34G=
c.2621-34G= (n.2621-34G=)
c.2522-34G= (n.2522-34G=)
c.2696-34G= (n.2696-34G=)
c.*1138-34G= (n.*1138-34G=)
c.*2151-34G= (n.*2151-34G=)
c.366-34G=
c.2054-34G= (n.2054-34G=)
c.1691-34G= (n.1691-34G=)
c.1136-34G= (n.1136-34G=)
c.2894-34G= (n.2894-34G=)
c.2699-34G= (n.2699-34G=)
c.2774-34G= (n.2774-34G=)
c.2690-34G= (n.2690-34G=)
12g.2593180delCA2617066478CACNA1Cc.2606-33del (n.2606-33del)
c.2531-33del (n.2531-33del)
c.1023-33del
c.2621-33del (n.2621-33del)
c.2522-33del (n.2522-33del)
c.2696-33del (n.2696-33del)
c.*1138-33del (n.*1138-33del)
c.*2151-33del (n.*2151-33del)
c.366-33del
c.2054-33del (n.2054-33del)
c.1691-33del (n.1691-33del)
c.1136-33del (n.1136-33del)
c.2894-33del (n.2894-33del)
c.2699-33del (n.2699-33del)
c.2774-33del (n.2774-33del)
c.2690-33del (n.2690-33del)
 gnomAD v4
12g.2593180G>ACA2617066479CACNA1Cc.2606-33G>A (n.2606-33G>A)
c.2531-33G>A (n.2531-33G>A)
c.1023-33G>A
c.2621-33G>A (n.2621-33G>A)
c.2522-33G>A (n.2522-33G>A)
c.2696-33G>A (n.2696-33G>A)
c.*1138-33G>A (n.*1138-33G>A)
c.*2151-33G>A (n.*2151-33G>A)
c.366-33G>A
c.2054-33G>A (n.2054-33G>A)
c.1691-33G>A (n.1691-33G>A)
c.1136-33G>A (n.1136-33G>A)
c.2894-33G>A (n.2894-33G>A)
c.2699-33G>A (n.2699-33G>A)
c.2774-33G>A (n.2774-33G>A)
c.2690-33G>A (n.2690-33G>A)
 gnomAD v4
12g.2593181A>TCA2617066480CACNA1Cc.2606-32A>T (n.2606-32A>T)
c.2531-32A>T (n.2531-32A>T)
c.1023-32A>T
c.2621-32A>T (n.2621-32A>T)
c.2522-32A>T (n.2522-32A>T)
c.2696-32A>T (n.2696-32A>T)
c.*1138-32A>T (n.*1138-32A>T)
c.*2151-32A>T (n.*2151-32A>T)
c.366-32A>T
c.2054-32A>T (n.2054-32A>T)
c.1691-32A>T (n.1691-32A>T)
c.1136-32A>T (n.1136-32A>T)
c.2894-32A>T (n.2894-32A>T)
c.2699-32A>T (n.2699-32A>T)
c.2774-32A>T (n.2774-32A>T)
c.2690-32A>T (n.2690-32A>T)
 gnomAD v4
12g.2593182G>ACA2617066481CACNA1Cc.2606-31G>A (n.2606-31G>A)
c.2531-31G>A (n.2531-31G>A)
c.1023-31G>A
c.2621-31G>A (n.2621-31G>A)
c.2522-31G>A (n.2522-31G>A)
c.2696-31G>A (n.2696-31G>A)
c.*1138-31G>A (n.*1138-31G>A)
c.*2151-31G>A (n.*2151-31G>A)
c.366-31G>A
c.2054-31G>A (n.2054-31G>A)
c.1691-31G>A (n.1691-31G>A)
c.1136-31G>A (n.1136-31G>A)
c.2894-31G>A (n.2894-31G>A)
c.2699-31G>A (n.2699-31G>A)
c.2774-31G>A (n.2774-31G>A)
c.2690-31G>A (n.2690-31G>A)
 gnomAD v4
12g.2593182G=CA2012308890CACNA1Cc.2606-31G= (n.2606-31G=)
c.2531-31G= (n.2531-31G=)
c.1023-31G=
c.2621-31G= (n.2621-31G=)
c.2522-31G= (n.2522-31G=)
c.2696-31G= (n.2696-31G=)
c.*1138-31G= (n.*1138-31G=)
c.*2151-31G= (n.*2151-31G=)
c.366-31G=
c.2054-31G= (n.2054-31G=)
c.1691-31G= (n.1691-31G=)
c.1136-31G= (n.1136-31G=)
c.2894-31G= (n.2894-31G=)
c.2699-31G= (n.2699-31G=)
c.2774-31G= (n.2774-31G=)
c.2690-31G= (n.2690-31G=)
12g.2593182G>TCA6389002CACNA1Cc.2606-31G>T (n.2606-31G>T)
c.2531-31G>T (n.2531-31G>T)
c.1023-31G>T
c.2621-31G>T (n.2621-31G>T)
c.2522-31G>T (n.2522-31G>T)
c.2696-31G>T (n.2696-31G>T)
c.*1138-31G>T (n.*1138-31G>T)
c.*2151-31G>T (n.*2151-31G>T)
c.366-31G>T
c.2054-31G>T (n.2054-31G>T)
c.1691-31G>T (n.1691-31G>T)
c.1136-31G>T (n.1136-31G>T)
c.2894-31G>T (n.2894-31G>T)
c.2699-31G>T (n.2699-31G>T)
c.2774-31G>T (n.2774-31G>T)
c.2690-31G>T (n.2690-31G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.2593189A>GCA2617066482CACNA1Cc.2606-24A>G (n.2606-24A>G)
c.2531-24A>G (n.2531-24A>G)
c.1023-24A>G
c.2621-24A>G (n.2621-24A>G)
c.2522-24A>G (n.2522-24A>G)
c.2696-24A>G (n.2696-24A>G)
c.*1138-24A>G (n.*1138-24A>G)
c.*2151-24A>G (n.*2151-24A>G)
c.366-24A>G
c.2054-24A>G (n.2054-24A>G)
c.1691-24A>G (n.1691-24A>G)
c.1136-24A>G (n.1136-24A>G)
c.2894-24A>G (n.2894-24A>G)
c.2699-24A>G (n.2699-24A>G)
c.2774-24A>G (n.2774-24A>G)
c.2690-24A>G (n.2690-24A>G)
 gnomAD v4
12g.2593190G>ACA944084273CACNA1Cc.2606-23G>A (n.2606-23G>A)
c.2531-23G>A (n.2531-23G>A)
c.1023-23G>A
c.2621-23G>A (n.2621-23G>A)
c.2522-23G>A (n.2522-23G>A)
c.2696-23G>A (n.2696-23G>A)
c.*1138-23G>A (n.*1138-23G>A)
c.*2151-23G>A (n.*2151-23G>A)
c.366-23G>A
c.2054-23G>A (n.2054-23G>A)
c.1691-23G>A (n.1691-23G>A)
c.1136-23G>A (n.1136-23G>A)
c.2894-23G>A (n.2894-23G>A)
c.2699-23G>A (n.2699-23G>A)
c.2774-23G>A (n.2774-23G>A)
c.2690-23G>A (n.2690-23G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.2593190G=CA2012308891CACNA1Cc.2606-23G= (n.2606-23G=)
c.2531-23G= (n.2531-23G=)
c.1023-23G=
c.2621-23G= (n.2621-23G=)
c.2522-23G= (n.2522-23G=)
c.2696-23G= (n.2696-23G=)
c.*1138-23G= (n.*1138-23G=)
c.*2151-23G= (n.*2151-23G=)
c.366-23G=
c.2054-23G= (n.2054-23G=)
c.1691-23G= (n.1691-23G=)
c.1136-23G= (n.1136-23G=)
c.2894-23G= (n.2894-23G=)
c.2699-23G= (n.2699-23G=)
c.2774-23G= (n.2774-23G=)
c.2690-23G= (n.2690-23G=)
12g.2593190G>TCA6389003CACNA1Cc.2606-23G>T (n.2606-23G>T)
c.2531-23G>T (n.2531-23G>T)
c.1023-23G>T
c.2621-23G>T (n.2621-23G>T)
c.2522-23G>T (n.2522-23G>T)
c.2696-23G>T (n.2696-23G>T)
c.*1138-23G>T (n.*1138-23G>T)
c.*2151-23G>T (n.*2151-23G>T)
c.366-23G>T
c.2054-23G>T (n.2054-23G>T)
c.1691-23G>T (n.1691-23G>T)
c.1136-23G>T (n.1136-23G>T)
c.2894-23G>T (n.2894-23G>T)
c.2699-23G>T (n.2699-23G>T)
c.2774-23G>T (n.2774-23G>T)
c.2690-23G>T (n.2690-23G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.2593191A>GCA2842332546CACNA1Cc.2606-22A>G (n.2606-22A>G)
c.2531-22A>G (n.2531-22A>G)
c.1023-22A>G
c.2621-22A>G (n.2621-22A>G)
c.2522-22A>G (n.2522-22A>G)
c.2696-22A>G (n.2696-22A>G)
c.*1138-22A>G (n.*1138-22A>G)
c.*2151-22A>G (n.*2151-22A>G)
c.366-22A>G
c.2054-22A>G (n.2054-22A>G)
c.1691-22A>G (n.1691-22A>G)
c.1136-22A>G (n.1136-22A>G)
c.2894-22A>G (n.2894-22A>G)
c.2699-22A>G (n.2699-22A>G)
c.2774-22A>G (n.2774-22A>G)
c.2690-22A>G (n.2690-22A>G)
12g.2593192dupCA2838458359CACNA1Cc.2606-21dup (n.2606-21dup)
c.2531-21dup (n.2531-21dup)
c.1023-21dup
c.2621-21dup (n.2621-21dup)
c.2522-21dup (n.2522-21dup)
c.2696-21dup (n.2696-21dup)
c.*1138-21dup (n.*1138-21dup)
c.*2151-21dup (n.*2151-21dup)
c.366-21dup
c.2054-21dup (n.2054-21dup)
c.1691-21dup (n.1691-21dup)
c.1136-21dup (n.1136-21dup)
c.2894-21dup (n.2894-21dup)
c.2699-21dup (n.2699-21dup)
c.2774-21dup (n.2774-21dup)
c.2690-21dup (n.2690-21dup)
12g.2593193T>CCA231594237CACNA1Cc.2606-20T>C (n.2606-20T>C)
c.2531-20T>C (n.2531-20T>C)
c.1023-20T>C
c.2621-20T>C (n.2621-20T>C)
c.2522-20T>C (n.2522-20T>C)
c.2696-20T>C (n.2696-20T>C)
c.*1138-20T>C (n.*1138-20T>C)
c.*2151-20T>C (n.*2151-20T>C)
c.366-20T>C
c.2054-20T>C (n.2054-20T>C)
c.1691-20T>C (n.1691-20T>C)
c.1136-20T>C (n.1136-20T>C)
c.2894-20T>C (n.2894-20T>C)
c.2699-20T>C (n.2699-20T>C)
c.2774-20T>C (n.2774-20T>C)
c.2690-20T>C (n.2690-20T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.2593193T=CA2012308892CACNA1Cc.2606-20T= (n.2606-20T=)
c.2531-20T= (n.2531-20T=)
c.1023-20T=
c.2621-20T= (n.2621-20T=)
c.2522-20T= (n.2522-20T=)
c.2696-20T= (n.2696-20T=)
c.*1138-20T= (n.*1138-20T=)
c.*2151-20T= (n.*2151-20T=)
c.366-20T=
c.2054-20T= (n.2054-20T=)
c.1691-20T= (n.1691-20T=)
c.1136-20T= (n.1136-20T=)
c.2894-20T= (n.2894-20T=)
c.2699-20T= (n.2699-20T=)
c.2774-20T= (n.2774-20T=)
c.2690-20T= (n.2690-20T=)
12g.2593195G>ACA2575045247CACNA1Cc.2606-18G>A (n.2606-18G>A)
c.2531-18G>A (n.2531-18G>A)
c.1023-18G>A
c.2621-18G>A (n.2621-18G>A)
c.2522-18G>A (n.2522-18G>A)
c.2696-18G>A (n.2696-18G>A)
c.*1138-18G>A (n.*1138-18G>A)
c.*2151-18G>A (n.*2151-18G>A)
c.366-18G>A
c.2054-18G>A (n.2054-18G>A)
c.1691-18G>A (n.1691-18G>A)
c.1136-18G>A (n.1136-18G>A)
c.2894-18G>A (n.2894-18G>A)
c.2699-18G>A (n.2699-18G>A)
c.2774-18G>A (n.2774-18G>A)
c.2690-18G>A (n.2690-18G>A)
12g.2593195G>TCA2838345372CACNA1Cc.2606-18G>T (n.2606-18G>T)
c.2531-18G>T (n.2531-18G>T)
c.1023-18G>T
c.2621-18G>T (n.2621-18G>T)
c.2522-18G>T (n.2522-18G>T)
c.2696-18G>T (n.2696-18G>T)
c.*1138-18G>T (n.*1138-18G>T)
c.*2151-18G>T (n.*2151-18G>T)
c.366-18G>T
c.2054-18G>T (n.2054-18G>T)
c.1691-18G>T (n.1691-18G>T)
c.1136-18G>T (n.1136-18G>T)
c.2894-18G>T (n.2894-18G>T)
c.2699-18G>T (n.2699-18G>T)
c.2774-18G>T (n.2774-18G>T)
c.2690-18G>T (n.2690-18G>T)
12g.2593198C>ACA2617066483CACNA1Cc.2606-15C>A (n.2606-15C>A)
c.2531-15C>A (n.2531-15C>A)
c.1023-15C>A
c.2621-15C>A (n.2621-15C>A)
c.2522-15C>A (n.2522-15C>A)
c.2696-15C>A (n.2696-15C>A)
c.*1138-15C>A (n.*1138-15C>A)
c.*2151-15C>A (n.*2151-15C>A)
c.366-15C>A
c.2054-15C>A (n.2054-15C>A)
c.1691-15C>A (n.1691-15C>A)
c.1136-15C>A (n.1136-15C>A)
c.2894-15C>A (n.2894-15C>A)
c.2699-15C>A (n.2699-15C>A)
c.2774-15C>A (n.2774-15C>A)
c.2690-15C>A (n.2690-15C>A)
 gnomAD v4
12g.2593198C=CA2012308893CACNA1Cc.2606-15C= (n.2606-15C=)
c.2531-15C= (n.2531-15C=)
c.1023-15C=
c.2621-15C= (n.2621-15C=)
c.2522-15C= (n.2522-15C=)
c.2696-15C= (n.2696-15C=)
c.*1138-15C= (n.*1138-15C=)
c.*2151-15C= (n.*2151-15C=)
c.366-15C=
c.2054-15C= (n.2054-15C=)
c.1691-15C= (n.1691-15C=)
c.1136-15C= (n.1136-15C=)
c.2894-15C= (n.2894-15C=)
c.2699-15C= (n.2699-15C=)
c.2774-15C= (n.2774-15C=)
c.2690-15C= (n.2690-15C=)
12g.2593198C>TCA6389004CACNA1Cc.2606-15C>T (n.2606-15C>T)
c.2531-15C>T (n.2531-15C>T)
c.1023-15C>T
c.2621-15C>T (n.2621-15C>T)
c.2522-15C>T (n.2522-15C>T)
c.2696-15C>T (n.2696-15C>T)
c.*1138-15C>T (n.*1138-15C>T)
c.*2151-15C>T (n.*2151-15C>T)
c.366-15C>T
c.2054-15C>T (n.2054-15C>T)
c.1691-15C>T (n.1691-15C>T)
c.1136-15C>T (n.1136-15C>T)
c.2894-15C>T (n.2894-15C>T)
c.2699-15C>T (n.2699-15C>T)
c.2774-15C>T (n.2774-15C>T)
c.2690-15C>T (n.2690-15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.2593199T>CCA2617066484CACNA1Cc.2606-14T>C (n.2606-14T>C)
c.2531-14T>C (n.2531-14T>C)
c.1023-14T>C
c.2621-14T>C (n.2621-14T>C)
c.2522-14T>C (n.2522-14T>C)
c.2696-14T>C (n.2696-14T>C)
c.*1138-14T>C (n.*1138-14T>C)
c.*2151-14T>C (n.*2151-14T>C)
c.366-14T>C
c.2054-14T>C (n.2054-14T>C)
c.1691-14T>C (n.1691-14T>C)
c.1136-14T>C (n.1136-14T>C)
c.2894-14T>C (n.2894-14T>C)
c.2699-14T>C (n.2699-14T>C)
c.2774-14T>C (n.2774-14T>C)
c.2690-14T>C (n.2690-14T>C)
 gnomAD v4
12g.2593200G>ACA6389005CACNA1Cc.2606-13G>A (n.2606-13G>A)
c.2531-13G>A (n.2531-13G>A)
c.1023-13G>A
c.2621-13G>A (n.2621-13G>A)
c.2522-13G>A (n.2522-13G>A)
c.2696-13G>A (n.2696-13G>A)
c.*1138-13G>A (n.*1138-13G>A)
c.*2151-13G>A (n.*2151-13G>A)
c.366-13G>A
c.2054-13G>A (n.2054-13G>A)
c.1691-13G>A (n.1691-13G>A)
c.1136-13G>A (n.1136-13G>A)
c.2894-13G>A (n.2894-13G>A)
c.2699-13G>A (n.2699-13G>A)
c.2774-13G>A (n.2774-13G>A)
c.2690-13G>A (n.2690-13G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.2593200G=CA2012308895CACNA1Cc.2606-13G= (n.2606-13G=)
c.2531-13G= (n.2531-13G=)
c.1023-13G=
c.2621-13G= (n.2621-13G=)
c.2522-13G= (n.2522-13G=)
c.2696-13G= (n.2696-13G=)
c.*1138-13G= (n.*1138-13G=)
c.*2151-13G= (n.*2151-13G=)
c.366-13G=
c.2054-13G= (n.2054-13G=)
c.1691-13G= (n.1691-13G=)
c.1136-13G= (n.1136-13G=)
c.2894-13G= (n.2894-13G=)
c.2699-13G= (n.2699-13G=)
c.2774-13G= (n.2774-13G=)
c.2690-13G= (n.2690-13G=)
12g.2593200G>TCA602712485CACNA1Cc.2606-13G>T (n.2606-13G>T)
c.2531-13G>T (n.2531-13G>T)
c.1023-13G>T
c.2621-13G>T (n.2621-13G>T)
c.2522-13G>T (n.2522-13G>T)
c.2696-13G>T (n.2696-13G>T)
c.*1138-13G>T (n.*1138-13G>T)
c.*2151-13G>T (n.*2151-13G>T)
c.366-13G>T
c.2054-13G>T (n.2054-13G>T)
c.1691-13G>T (n.1691-13G>T)
c.1136-13G>T (n.1136-13G>T)
c.2894-13G>T (n.2894-13G>T)
c.2699-13G>T (n.2699-13G>T)
c.2774-13G>T (n.2774-13G>T)
c.2690-13G>T (n.2690-13G>T)
 dbSNP gnomAD v2 gnomAD v4
12g.2593200_2593203delinsGTTCCA2012308894CACNA1Cc.2606-13_2606-10delinsGTTC (n.2606-13_2606-10delinsGTTC)
c.2531-13_2531-10delinsGTTC (n.2531-13_2531-10delinsGTTC)
c.1023-13_1023-10delinsGTTC
c.2621-13_2621-10delinsGTTC (n.2621-13_2621-10delinsGTTC)
c.2522-13_2522-10delinsGTTC (n.2522-13_2522-10delinsGTTC)
c.2696-13_2696-10delinsGTTC (n.2696-13_2696-10delinsGTTC)
c.*1138-13_*1138-10delinsGTTC (n.*1138-13_*1138-10delinsGTTC)
c.*2151-13_*2151-10delinsGTTC (n.*2151-13_*2151-10delinsGTTC)
c.366-13_366-10delinsGTTC
c.2054-13_2054-10delinsGTTC (n.2054-13_2054-10delinsGTTC)
c.1691-13_1691-10delinsGTTC (n.1691-13_1691-10delinsGTTC)
c.1136-13_1136-10delinsGTTC (n.1136-13_1136-10delinsGTTC)
c.2894-13_2894-10delinsGTTC (n.2894-13_2894-10delinsGTTC)
c.2699-13_2699-10delinsGTTC (n.2699-13_2699-10delinsGTTC)
c.2774-13_2774-10delinsGTTC (n.2774-13_2774-10delinsGTTC)
c.2690-13_2690-10delinsGTTC (n.2690-13_2690-10delinsGTTC)
12g.2593206_2593208delCA602712486CACNA1Cc.2606-7_2606-5del (n.2606-7_2606-5del)
c.2531-7_2531-5del (n.2531-7_2531-5del)
c.1023-7_1023-5del
c.2621-7_2621-5del (n.2621-7_2621-5del)
c.2522-7_2522-5del (n.2522-7_2522-5del)
c.2696-7_2696-5del (n.2696-7_2696-5del)
c.*1138-7_*1138-5del (n.*1138-7_*1138-5del)
c.*2151-7_*2151-5del (n.*2151-7_*2151-5del)
c.366-7_366-5del
c.2054-7_2054-5del (n.2054-7_2054-5del)
c.1691-7_1691-5del (n.1691-7_1691-5del)
c.1136-7_1136-5del (n.1136-7_1136-5del)
c.2894-7_2894-5del (n.2894-7_2894-5del)
c.2699-7_2699-5del (n.2699-7_2699-5del)
c.2774-7_2774-5del (n.2774-7_2774-5del)
c.2690-7_2690-5del (n.2690-7_2690-5del)
 dbSNP gnomAD v2 gnomAD v4
12g.2593202T>CCA2842332547CACNA1Cc.2606-11T>C (n.2606-11T>C)
c.2531-11T>C (n.2531-11T>C)
c.1023-11T>C
c.2621-11T>C (n.2621-11T>C)
c.2522-11T>C (n.2522-11T>C)
c.2696-11T>C (n.2696-11T>C)
c.*1138-11T>C (n.*1138-11T>C)
c.*2151-11T>C (n.*2151-11T>C)
c.366-11T>C
c.2054-11T>C (n.2054-11T>C)
c.1691-11T>C (n.1691-11T>C)
c.1136-11T>C (n.1136-11T>C)
c.2894-11T>C (n.2894-11T>C)
c.2699-11T>C (n.2699-11T>C)
c.2774-11T>C (n.2774-11T>C)
c.2690-11T>C (n.2690-11T>C)
12g.2593203C=CA2012308896CACNA1Cc.2606-10C= (n.2606-10C=)
c.2531-10C= (n.2531-10C=)
c.1023-10C=
c.2621-10C= (n.2621-10C=)
c.2522-10C= (n.2522-10C=)
c.2696-10C= (n.2696-10C=)
c.*1138-10C= (n.*1138-10C=)
c.*2151-10C= (n.*2151-10C=)
c.366-10C=
c.2054-10C= (n.2054-10C=)
c.1691-10C= (n.1691-10C=)
c.1136-10C= (n.1136-10C=)
c.2894-10C= (n.2894-10C=)
c.2699-10C= (n.2699-10C=)
c.2774-10C= (n.2774-10C=)
c.2690-10C= (n.2690-10C=)
12g.2593203C>TCA2012308897CACNA1Cc.2606-10C>T (n.2606-10C>T)
c.2531-10C>T (n.2531-10C>T)
c.1023-10C>T
c.2621-10C>T (n.2621-10C>T)
c.2522-10C>T (n.2522-10C>T)
c.2696-10C>T (n.2696-10C>T)
c.*1138-10C>T (n.*1138-10C>T)
c.*2151-10C>T (n.*2151-10C>T)
c.366-10C>T
c.2054-10C>T (n.2054-10C>T)
c.1691-10C>T (n.1691-10C>T)
c.1136-10C>T (n.1136-10C>T)
c.2894-10C>T (n.2894-10C>T)
c.2699-10C>T (n.2699-10C>T)
c.2774-10C>T (n.2774-10C>T)
c.2690-10C>T (n.2690-10C>T)
 dbSNP
12g.2593206C=CA2012308898CACNA1Cc.2606-7C= (n.2606-7C=)
c.2531-7C= (n.2531-7C=)
c.1023-7C=
c.2621-7C= (n.2621-7C=)
c.2522-7C= (n.2522-7C=)
c.2696-7C= (n.2696-7C=)
c.*1138-7C= (n.*1138-7C=)
c.*2151-7C= (n.*2151-7C=)
c.366-7C=
c.2054-7C= (n.2054-7C=)
c.1691-7C= (n.1691-7C=)
c.1136-7C= (n.1136-7C=)
c.2894-7C= (n.2894-7C=)
c.2699-7C= (n.2699-7C=)
c.2774-7C= (n.2774-7C=)
c.2690-7C= (n.2690-7C=)
12g.2593206C>TCA686834313CACNA1Cc.2606-7C>T (n.2606-7C>T)
c.2531-7C>T (n.2531-7C>T)
c.1023-7C>T
c.2621-7C>T (n.2621-7C>T)
c.2522-7C>T (n.2522-7C>T)
c.2696-7C>T (n.2696-7C>T)
c.*1138-7C>T (n.*1138-7C>T)
c.*2151-7C>T (n.*2151-7C>T)
c.366-7C>T
c.2054-7C>T (n.2054-7C>T)
c.1691-7C>T (n.1691-7C>T)
c.1136-7C>T (n.1136-7C>T)
c.2894-7C>T (n.2894-7C>T)
c.2699-7C>T (n.2699-7C>T)
c.2774-7C>T (n.2774-7C>T)
c.2690-7C>T (n.2690-7C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.2593211A>CCA383372052CACNA1Cc.2606-2A>C (n.2606-2A>C)
c.2531-2A>C (n.2531-2A>C)
c.1023-2A>C
c.2621-2A>C (n.2621-2A>C)
c.2522-2A>C (n.2522-2A>C)
c.2696-2A>C (n.2696-2A>C)
c.*1138-2A>C (n.*1138-2A>C)
c.*2151-2A>C (n.*2151-2A>C)
c.366-2A>C
c.2054-2A>C (n.2054-2A>C)
c.1691-2A>C (n.1691-2A>C)
c.1136-2A>C (n.1136-2A>C)
c.2894-2A>C (n.2894-2A>C)
c.2699-2A>C (n.2699-2A>C)
c.2774-2A>C (n.2774-2A>C)
c.2690-2A>C (n.2690-2A>C)
12g.2593211A>GCA383372053CACNA1Cc.2606-2A>G (n.2606-2A>G)
c.2531-2A>G (n.2531-2A>G)
c.1023-2A>G
c.2621-2A>G (n.2621-2A>G)
c.2522-2A>G (n.2522-2A>G)
c.2696-2A>G (n.2696-2A>G)
c.*1138-2A>G (n.*1138-2A>G)
c.*2151-2A>G (n.*2151-2A>G)
c.366-2A>G
c.2054-2A>G (n.2054-2A>G)
c.1691-2A>G (n.1691-2A>G)
c.1136-2A>G (n.1136-2A>G)
c.2894-2A>G (n.2894-2A>G)
c.2699-2A>G (n.2699-2A>G)
c.2774-2A>G (n.2774-2A>G)
c.2690-2A>G (n.2690-2A>G)
12g.2593211A>TCA383372054CACNA1Cc.2606-2A>T (n.2606-2A>T)
c.2531-2A>T (n.2531-2A>T)
c.1023-2A>T
c.2621-2A>T (n.2621-2A>T)
c.2522-2A>T (n.2522-2A>T)
c.2696-2A>T (n.2696-2A>T)
c.*1138-2A>T (n.*1138-2A>T)
c.*2151-2A>T (n.*2151-2A>T)
c.366-2A>T
c.2054-2A>T (n.2054-2A>T)
c.1691-2A>T (n.1691-2A>T)
c.1136-2A>T (n.1136-2A>T)
c.2894-2A>T (n.2894-2A>T)
c.2699-2A>T (n.2699-2A>T)
c.2774-2A>T (n.2774-2A>T)
c.2690-2A>T (n.2690-2A>T)
12g.2593212G>ACA383372055CACNA1Cc.2606-1G>A (n.2606-1G>A)
c.2531-1G>A (n.2531-1G>A)
c.1023-1G>A
c.2621-1G>A (n.2621-1G>A)
c.2522-1G>A (n.2522-1G>A)
c.2696-1G>A (n.2696-1G>A)
c.*1138-1G>A (n.*1138-1G>A)
c.*2151-1G>A (n.*2151-1G>A)
c.366-1G>A
c.2054-1G>A (n.2054-1G>A)
c.1691-1G>A (n.1691-1G>A)
c.1136-1G>A (n.1136-1G>A)
c.2894-1G>A (n.2894-1G>A)
c.2699-1G>A (n.2699-1G>A)
c.2774-1G>A (n.2774-1G>A)
c.2690-1G>A (n.2690-1G>A)
12g.2593212G>CCA383372056CACNA1Cc.2606-1G>C (n.2606-1G>C)
c.2531-1G>C (n.2531-1G>C)
c.1023-1G>C
c.2621-1G>C (n.2621-1G>C)
c.2522-1G>C (n.2522-1G>C)
c.2696-1G>C (n.2696-1G>C)
c.*1138-1G>C (n.*1138-1G>C)
c.*2151-1G>C (n.*2151-1G>C)
c.366-1G>C
c.2054-1G>C (n.2054-1G>C)
c.1691-1G>C (n.1691-1G>C)
c.1136-1G>C (n.1136-1G>C)
c.2894-1G>C (n.2894-1G>C)
c.2699-1G>C (n.2699-1G>C)
c.2774-1G>C (n.2774-1G>C)
c.2690-1G>C (n.2690-1G>C)
12g.2593212G>TCA383372057CACNA1Cc.2606-1G>T (n.2606-1G>T)
c.2531-1G>T (n.2531-1G>T)
c.1023-1G>T
c.2621-1G>T (n.2621-1G>T)
c.2522-1G>T (n.2522-1G>T)
c.2696-1G>T (n.2696-1G>T)
c.*1138-1G>T (n.*1138-1G>T)
c.*2151-1G>T (n.*2151-1G>T)
c.366-1G>T
c.2054-1G>T (n.2054-1G>T)
c.1691-1G>T (n.1691-1G>T)
c.1136-1G>T (n.1136-1G>T)
c.2894-1G>T (n.2894-1G>T)
c.2699-1G>T (n.2699-1G>T)
c.2774-1G>T (n.2774-1G>T)
c.2690-1G>T (n.2690-1G>T)
12g.2593213G>ACA383372058CACNA1Cc.2606G>A (p.Gly869Glu)
c.2531G>A (p.Gly844Glu)
c.1023G>A
c.2621G>A (p.Gly874Glu)
c.2522G>A (p.Gly841Glu)
c.2696G>A (p.Gly899Glu)
c.*1138G>A (n.*1138G>A)
c.*2151G>A (n.*2151G>A)
c.366G>A
c.2054G>A (p.Gly685Glu)
c.1691G>A (p.Gly564Glu)
c.1136G>A (p.Gly379Glu)
c.2894G>A (p.Gly965Glu)
c.2699G>A (p.Gly900Glu)
c.2774G>A (p.Gly925Glu)
c.2690G>A (p.Gly897Glu)
12g.2593213G>CCA383372059CACNA1Cc.2606G>C (p.Gly869Ala)
c.2531G>C (p.Gly844Ala)
c.1023G>C
c.2621G>C (p.Gly874Ala)
c.2522G>C (p.Gly841Ala)
c.2696G>C (p.Gly899Ala)
c.*1138G>C (n.*1138G>C)
c.*2151G>C (n.*2151G>C)
c.366G>C
c.2054G>C (p.Gly685Ala)
c.1691G>C (p.Gly564Ala)
c.1136G>C (p.Gly379Ala)
c.2894G>C (p.Gly965Ala)
c.2699G>C (p.Gly900Ala)
c.2774G>C (p.Gly925Ala)
c.2690G>C (p.Gly897Ala)
12g.2593213G>TCA383372060CACNA1Cc.2606G>T (p.Gly869Val)
c.2531G>T (p.Gly844Val)
c.1023G>T
c.2621G>T (p.Gly874Val)
c.2522G>T (p.Gly841Val)
c.2696G>T (p.Gly899Val)
c.*1138G>T (n.*1138G>T)
c.*2151G>T (n.*2151G>T)
c.366G>T
c.2054G>T (p.Gly685Val)
c.1691G>T (p.Gly564Val)
c.1136G>T (p.Gly379Val)
c.2894G>T (p.Gly965Val)
c.2699G>T (p.Gly900Val)
c.2774G>T (p.Gly925Val)
c.2690G>T (p.Gly897Val)
12g.2593214A=CA2012308899CACNA1Cc.2607A= (p.Gly869=)
c.2532A= (p.Gly844=)
c.1024A=
c.2622A= (p.Gly874=)
c.2523A= (p.Gly841=)
c.2697A= (p.Gly899=)
c.*1139A= (n.*1139A=)
c.*2152A= (n.*2152A=)
c.367A=
c.2055A= (p.Gly685=)
c.1692A= (p.Gly564=)
c.1137A= (p.Gly379=)
c.2895A= (p.Gly965=)
c.2700A= (p.Gly900=)
c.2775A= (p.Gly925=)
c.2691A= (p.Gly897=)
12g.2593214A>CCA477886506CACNA1Cc.2607A>C (p.Gly869=)
c.2532A>C (p.Gly844=)
c.1024A>C
c.2622A>C (p.Gly874=)
c.2523A>C (p.Gly841=)
c.2697A>C (p.Gly899=)
c.*1139A>C (n.*1139A>C)
c.*2152A>C (n.*2152A>C)
c.367A>C
c.2055A>C (p.Gly685=)
c.1692A>C (p.Gly564=)
c.1137A>C (p.Gly379=)
c.2895A>C (p.Gly965=)
c.2700A>C (p.Gly900=)
c.2775A>C (p.Gly925=)
c.2691A>C (p.Gly897=)
12g.2593214A>GCA477886507CACNA1Cc.2607A>G (p.Gly869=)
c.2532A>G (p.Gly844=)
c.1024A>G
c.2622A>G (p.Gly874=)
c.2523A>G (p.Gly841=)
c.2697A>G (p.Gly899=)
c.*1139A>G (n.*1139A>G)
c.*2152A>G (n.*2152A>G)
c.367A>G
c.2055A>G (p.Gly685=)
c.1692A>G (p.Gly564=)
c.1137A>G (p.Gly379=)
c.2895A>G (p.Gly965=)
c.2700A>G (p.Gly900=)
c.2775A>G (p.Gly925=)
c.2691A>G (p.Gly897=)
12g.2593214A>TCA477886508CACNA1Cc.2607A>T (p.Gly869=)
c.2532A>T (p.Gly844=)
c.1024A>T
c.2622A>T (p.Gly874=)
c.2523A>T (p.Gly841=)
c.2697A>T (p.Gly899=)
c.*1139A>T (n.*1139A>T)
c.*2152A>T (n.*2152A>T)
c.367A>T
c.2055A>T (p.Gly685=)
c.1692A>T (p.Gly564=)
c.1137A>T (p.Gly379=)
c.2895A>T (p.Gly965=)
c.2700A>T (p.Gly900=)
c.2775A>T (p.Gly925=)
c.2691A>T (p.Gly897=)
 dbSNP gnomAD v2 gnomAD v4
12g.2593215G>ACA383372061CACNA1Cc.2608G>A (p.Glu870Lys)
c.2533G>A (p.Glu845Lys)
c.1025G>A
c.2623G>A (p.Glu875Lys)
c.2524G>A (p.Glu842Lys)
c.2698G>A (p.Glu900Lys)
c.*1140G>A (n.*1140G>A)
c.*2153G>A (n.*2153G>A)
c.368G>A
c.2056G>A (p.Glu686Lys)
c.1693G>A (p.Glu565Lys)
c.1138G>A (p.Glu380Lys)
c.2896G>A (p.Glu966Lys)
c.2701G>A (p.Glu901Lys)
c.2776G>A (p.Glu926Lys)
c.2692G>A (p.Glu898Lys)
12g.2593215G>CCA383372062CACNA1Cc.2608G>C (p.Glu870Gln)
c.2533G>C (p.Glu845Gln)
c.1025G>C
c.2623G>C (p.Glu875Gln)
c.2524G>C (p.Glu842Gln)
c.2698G>C (p.Glu900Gln)
c.*1140G>C (n.*1140G>C)
c.*2153G>C (n.*2153G>C)
c.368G>C
c.2056G>C (p.Glu686Gln)
c.1693G>C (p.Glu565Gln)
c.1138G>C (p.Glu380Gln)
c.2896G>C (p.Glu966Gln)
c.2701G>C (p.Glu901Gln)
c.2776G>C (p.Glu926Gln)
c.2692G>C (p.Glu898Gln)
12g.2593215G=CA2012308900CACNA1Cc.2608G= (p.Glu870=)
c.2533G= (p.Glu845=)
c.1025G=
c.2623G= (p.Glu875=)
c.2524G= (p.Glu842=)
c.2698G= (p.Glu900=)
c.*1140G= (n.*1140G=)
c.*2153G= (n.*2153G=)
c.368G=
c.2056G= (p.Glu686=)
c.1693G= (p.Glu565=)
c.1138G= (p.Glu380=)
c.2896G= (p.Glu966=)
c.2701G= (p.Glu901=)
c.2776G= (p.Glu926=)
c.2692G= (p.Glu898=)
12g.2593215G>TCA383372063CACNA1Cc.2608G>T (p.Glu870Ter)
c.2533G>T (p.Glu845Ter)
c.1025G>T
c.2623G>T (p.Glu875Ter)
c.2524G>T (p.Glu842Ter)
c.2698G>T (p.Glu900Ter)
c.*1140G>T (n.*1140G>T)
c.*2153G>T (n.*2153G>T)
c.368G>T
c.2056G>T (p.Glu686Ter)
c.1693G>T (p.Glu565Ter)
c.1138G>T (p.Glu380Ter)
c.2896G>T (p.Glu966Ter)
c.2701G>T (p.Glu901Ter)
c.2776G>T (p.Glu926Ter)
c.2692G>T (p.Glu898Ter)
 dbSNP
12g.2593216A>CCA383372064CACNA1Cc.2609A>C (p.Glu870Ala)
c.2534A>C (p.Glu845Ala)
c.1026A>C
c.2624A>C (p.Glu875Ala)
c.2525A>C (p.Glu842Ala)
c.2699A>C (p.Glu900Ala)
c.*1141A>C (n.*1141A>C)
c.*2154A>C (n.*2154A>C)
c.369A>C
c.2057A>C (p.Glu686Ala)
c.1694A>C (p.Glu565Ala)
c.1139A>C (p.Glu380Ala)
c.2897A>C (p.Glu966Ala)
c.2702A>C (p.Glu901Ala)
c.2777A>C (p.Glu926Ala)
c.2693A>C (p.Glu898Ala)
12g.2593216A>GCA383372066CACNA1Cc.2609A>G (p.Glu870Gly)
c.2534A>G (p.Glu845Gly)
c.1026A>G
c.2624A>G (p.Glu875Gly)
c.2525A>G (p.Glu842Gly)
c.2699A>G (p.Glu900Gly)
c.*1141A>G (n.*1141A>G)
c.*2154A>G (n.*2154A>G)
c.369A>G
c.2057A>G (p.Glu686Gly)
c.1694A>G (p.Glu565Gly)
c.1139A>G (p.Glu380Gly)
c.2897A>G (p.Glu966Gly)
c.2702A>G (p.Glu901Gly)
c.2777A>G (p.Glu926Gly)
c.2693A>G (p.Glu898Gly)
12g.2593216A>TCA383372065CACNA1Cc.2609A>T (p.Glu870Val)
c.2534A>T (p.Glu845Val)
c.1026A>T
c.2624A>T (p.Glu875Val)
c.2525A>T (p.Glu842Val)
c.2699A>T (p.Glu900Val)
c.*1141A>T (n.*1141A>T)
c.*2154A>T (n.*2154A>T)
c.369A>T
c.2057A>T (p.Glu686Val)
c.1694A>T (p.Glu565Val)
c.1139A>T (p.Glu380Val)
c.2897A>T (p.Glu966Val)
c.2702A>T (p.Glu901Val)
c.2777A>T (p.Glu926Val)
c.2693A>T (p.Glu898Val)
12g.2593217A>CCA383372067CACNA1Cc.2610A>C (p.Glu870Asp)
c.2535A>C (p.Glu845Asp)
c.1027A>C
c.2625A>C (p.Glu875Asp)
c.2526A>C (p.Glu842Asp)
c.2700A>C (p.Glu900Asp)
c.*1142A>C (n.*1142A>C)
c.*2155A>C (n.*2155A>C)
c.370A>C
c.2058A>C (p.Glu686Asp)
c.1695A>C (p.Glu565Asp)
c.1140A>C (p.Glu380Asp)
c.2898A>C (p.Glu966Asp)
c.2703A>C (p.Glu901Asp)
c.2778A>C (p.Glu926Asp)
c.2694A>C (p.Glu898Asp)
12g.2593217A>GCA477886520CACNA1Cc.2610A>G (p.Glu870=)
c.2535A>G (p.Glu845=)
c.1027A>G
c.2625A>G (p.Glu875=)
c.2526A>G (p.Glu842=)
c.2700A>G (p.Glu900=)
c.*1142A>G (n.*1142A>G)
c.*2155A>G (n.*2155A>G)
c.370A>G
c.2058A>G (p.Glu686=)
c.1695A>G (p.Glu565=)
c.1140A>G (p.Glu380=)
c.2898A>G (p.Glu966=)
c.2703A>G (p.Glu901=)
c.2778A>G (p.Glu926=)
c.2694A>G (p.Glu898=)
12g.2593217A>TCA383372068CACNA1Cc.2610A>T (p.Glu870Asp)
c.2535A>T (p.Glu845Asp)
c.1027A>T
c.2625A>T (p.Glu875Asp)
c.2526A>T (p.Glu842Asp)
c.2700A>T (p.Glu900Asp)
c.*1142A>T (n.*1142A>T)
c.*2155A>T (n.*2155A>T)
c.370A>T
c.2058A>T (p.Glu686Asp)
c.1695A>T (p.Glu565Asp)
c.1140A>T (p.Glu380Asp)
c.2898A>T (p.Glu966Asp)
c.2703A>T (p.Glu901Asp)
c.2778A>T (p.Glu926Asp)
c.2694A>T (p.Glu898Asp)
12g.2593218G>ACA383372069CACNA1Cc.2611G>A (p.Glu871Lys)
c.2536G>A (p.Glu846Lys)
c.1028G>A
c.2626G>A (p.Glu876Lys)
c.2527G>A (p.Glu843Lys)
c.2701G>A (p.Glu901Lys)
c.*1143G>A (n.*1143G>A)
c.*2156G>A (n.*2156G>A)
c.371G>A
c.2059G>A (p.Glu687Lys)
c.1696G>A (p.Glu566Lys)
c.1141G>A (p.Glu381Lys)
c.2899G>A (p.Glu967Lys)
c.2704G>A (p.Glu902Lys)
c.2779G>A (p.Glu927Lys)
c.2695G>A (p.Glu899Lys)
 ClinVar dbSNP gnomAD v4
12g.2593218G>CCA383372070CACNA1Cc.2611G>C (p.Glu871Gln)
c.2536G>C (p.Glu846Gln)
c.1028G>C
c.2626G>C (p.Glu876Gln)
c.2527G>C (p.Glu843Gln)
c.2701G>C (p.Glu901Gln)
c.*1143G>C (n.*1143G>C)
c.*2156G>C (n.*2156G>C)
c.371G>C
c.2059G>C (p.Glu687Gln)
c.1696G>C (p.Glu566Gln)
c.1141G>C (p.Glu381Gln)
c.2899G>C (p.Glu967Gln)
c.2704G>C (p.Glu902Gln)
c.2779G>C (p.Glu927Gln)
c.2695G>C (p.Glu899Gln)
12g.2593218G=CA2012308901CACNA1Cc.2611G= (p.Glu871=)
c.2536G= (p.Glu846=)
c.1028G=
c.2626G= (p.Glu876=)
c.2527G= (p.Glu843=)
c.2701G= (p.Glu901=)
c.*1143G= (n.*1143G=)
c.*2156G= (n.*2156G=)
c.371G=
c.2059G= (p.Glu687=)
c.1696G= (p.Glu566=)
c.1141G= (p.Glu381=)
c.2899G= (p.Glu967=)
c.2704G= (p.Glu902=)
c.2779G= (p.Glu927=)
c.2695G= (p.Glu899=)
12g.2593218G>TCA383372071CACNA1Cc.2611G>T (p.Glu871Ter)
c.2536G>T (p.Glu846Ter)
c.1028G>T
c.2626G>T (p.Glu876Ter)
c.2527G>T (p.Glu843Ter)
c.2701G>T (p.Glu901Ter)
c.*1143G>T (n.*1143G>T)
c.*2156G>T (n.*2156G>T)
c.371G>T
c.2059G>T (p.Glu687Ter)
c.1696G>T (p.Glu566Ter)
c.1141G>T (p.Glu381Ter)
c.2899G>T (p.Glu967Ter)
c.2704G>T (p.Glu902Ter)
c.2779G>T (p.Glu927Ter)
c.2695G>T (p.Glu899Ter)
 dbSNP
12g.2593219A>CCA383372072CACNA1Cc.2612A>C (p.Glu871Ala)
c.2537A>C (p.Glu846Ala)
c.1029A>C
c.2627A>C (p.Glu876Ala)
c.2528A>C (p.Glu843Ala)
c.2702A>C (p.Glu901Ala)
c.*1144A>C (n.*1144A>C)
c.*2157A>C (n.*2157A>C)
c.372A>C
c.2060A>C (p.Glu687Ala)
c.1697A>C (p.Glu566Ala)
c.1142A>C (p.Glu381Ala)
c.2900A>C (p.Glu967Ala)
c.2705A>C (p.Glu902Ala)
c.2780A>C (p.Glu927Ala)
c.2696A>C (p.Glu899Ala)
 gnomAD v4
12g.2593219A>GCA383372073CACNA1Cc.2612A>G (p.Glu871Gly)
c.2537A>G (p.Glu846Gly)
c.1029A>G
c.2627A>G (p.Glu876Gly)
c.2528A>G (p.Glu843Gly)
c.2702A>G (p.Glu901Gly)
c.*1144A>G (n.*1144A>G)
c.*2157A>G (n.*2157A>G)
c.372A>G
c.2060A>G (p.Glu687Gly)
c.1697A>G (p.Glu566Gly)
c.1142A>G (p.Glu381Gly)
c.2900A>G (p.Glu967Gly)
c.2705A>G (p.Glu902Gly)
c.2780A>G (p.Glu927Gly)
c.2696A>G (p.Glu899Gly)
12g.2593219A>TCA383372074CACNA1Cc.2612A>T (p.Glu871Val)
c.2537A>T (p.Glu846Val)
c.1029A>T
c.2627A>T (p.Glu876Val)
c.2528A>T (p.Glu843Val)
c.2702A>T (p.Glu901Val)
c.*1144A>T (n.*1144A>T)
c.*2157A>T (n.*2157A>T)
c.372A>T
c.2060A>T (p.Glu687Val)
c.1697A>T (p.Glu566Val)
c.1142A>T (p.Glu381Val)
c.2900A>T (p.Glu967Val)
c.2705A>T (p.Glu902Val)
c.2780A>T (p.Glu927Val)
c.2696A>T (p.Glu899Val)
12g.2593220G>ACA6389006CACNA1Cc.2613G>A (p.Glu871=)
c.2538G>A (p.Glu846=)
c.1030G>A
c.2628G>A (p.Glu876=)
c.2529G>A (p.Glu843=)
c.2703G>A (p.Glu901=)
c.*1145G>A (n.*1145G>A)
c.*2158G>A (n.*2158G>A)
c.373G>A
c.2061G>A (p.Glu687=)
c.1698G>A (p.Glu566=)
c.1143G>A (p.Glu381=)
c.2901G>A (p.Glu967=)
c.2706G>A (p.Glu902=)
c.2781G>A (p.Glu927=)
c.2697G>A (p.Glu899=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.2593220G>CCA383372075CACNA1Cc.2613G>C (p.Glu871Asp)
c.2538G>C (p.Glu846Asp)
c.1030G>C
c.2628G>C (p.Glu876Asp)
c.2529G>C (p.Glu843Asp)
c.2703G>C (p.Glu901Asp)
c.*1145G>C (n.*1145G>C)
c.*2158G>C (n.*2158G>C)
c.373G>C
c.2061G>C (p.Glu687Asp)
c.1698G>C (p.Glu566Asp)
c.1143G>C (p.Glu381Asp)
c.2901G>C (p.Glu967Asp)
c.2706G>C (p.Glu902Asp)
c.2781G>C (p.Glu927Asp)
c.2697G>C (p.Glu899Asp)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2593220G=CA2012308902CACNA1Cc.2613G= (p.Glu871=)
c.2538G= (p.Glu846=)
c.1030G=
c.2628G= (p.Glu876=)
c.2529G= (p.Glu843=)
c.2703G= (p.Glu901=)
c.*1145G= (n.*1145G=)
c.*2158G= (n.*2158G=)
c.373G=
c.2061G= (p.Glu687=)
c.1698G= (p.Glu566=)
c.1143G= (p.Glu381=)
c.2901G= (p.Glu967=)
c.2706G= (p.Glu902=)
c.2781G= (p.Glu927=)
c.2697G= (p.Glu899=)
12g.2593220G>TCA383372076CACNA1Cc.2613G>T (p.Glu871Asp)
c.2538G>T (p.Glu846Asp)
c.1030G>T
c.2628G>T (p.Glu876Asp)
c.2529G>T (p.Glu843Asp)
c.2703G>T (p.Glu901Asp)
c.*1145G>T (n.*1145G>T)
c.*2158G>T (n.*2158G>T)
c.373G>T
c.2061G>T (p.Glu687Asp)
c.1698G>T (p.Glu566Asp)
c.1143G>T (p.Glu381Asp)
c.2901G>T (p.Glu967Asp)
c.2706G>T (p.Glu902Asp)
c.2781G>T (p.Glu927Asp)
c.2697G>T (p.Glu899Asp)
 gnomAD v4
12g.2593221G>ACA383372078CACNA1Cc.2614G>A (p.Asp872Asn)
c.2539G>A (p.Asp847Asn)
c.1031G>A
c.2629G>A (p.Asp877Asn)
c.2530G>A (p.Asp844Asn)
c.2704G>A (p.Asp902Asn)
c.*1146G>A (n.*1146G>A)
c.*2159G>A (n.*2159G>A)
c.374G>A
c.2062G>A (p.Asp688Asn)
c.1699G>A (p.Asp567Asn)
c.1144G>A (p.Asp382Asn)
c.2902G>A (p.Asp968Asn)
c.2707G>A (p.Asp903Asn)
c.2782G>A (p.Asp928Asn)
c.2698G>A (p.Asp900Asn)
12g.2593221G>CCA383372079CACNA1Cc.2614G>C (p.Asp872His)
c.2539G>C (p.Asp847His)
c.1031G>C
c.2629G>C (p.Asp877His)
c.2530G>C (p.Asp844His)
c.2704G>C (p.Asp902His)
c.*1146G>C (n.*1146G>C)
c.*2159G>C (n.*2159G>C)
c.374G>C
c.2062G>C (p.Asp688His)
c.1699G>C (p.Asp567His)
c.1144G>C (p.Asp382His)
c.2902G>C (p.Asp968His)
c.2707G>C (p.Asp903His)
c.2782G>C (p.Asp928His)
c.2698G>C (p.Asp900His)
12g.2593221G>TCA383372077CACNA1Cc.2614G>T (p.Asp872Tyr)
c.2539G>T (p.Asp847Tyr)
c.1031G>T
c.2629G>T (p.Asp877Tyr)
c.2530G>T (p.Asp844Tyr)
c.2704G>T (p.Asp902Tyr)
c.*1146G>T (n.*1146G>T)
c.*2159G>T (n.*2159G>T)
c.374G>T
c.2062G>T (p.Asp688Tyr)
c.1699G>T (p.Asp567Tyr)
c.1144G>T (p.Asp382Tyr)
c.2902G>T (p.Asp968Tyr)
c.2707G>T (p.Asp903Tyr)
c.2782G>T (p.Asp928Tyr)
c.2698G>T (p.Asp900Tyr)
12g.2593222A>CCA383372082CACNA1Cc.2615A>C (p.Asp872Ala)
c.2540A>C (p.Asp847Ala)
c.1032A>C
c.2630A>C (p.Asp877Ala)
c.2531A>C (p.Asp844Ala)
c.2705A>C (p.Asp902Ala)
c.*1147A>C (n.*1147A>C)
c.*2160A>C (n.*2160A>C)
c.375A>C
c.2063A>C (p.Asp688Ala)
c.1700A>C (p.Asp567Ala)
c.1145A>C (p.Asp382Ala)
c.2903A>C (p.Asp968Ala)
c.2708A>C (p.Asp903Ala)
c.2783A>C (p.Asp928Ala)
c.2699A>C (p.Asp900Ala)
12g.2593222A>GCA383372080CACNA1Cc.2615A>G (p.Asp872Gly)
c.2540A>G (p.Asp847Gly)
c.1032A>G
c.2630A>G (p.Asp877Gly)
c.2531A>G (p.Asp844Gly)
c.2705A>G (p.Asp902Gly)
c.*1147A>G (n.*1147A>G)
c.*2160A>G (n.*2160A>G)
c.375A>G
c.2063A>G (p.Asp688Gly)
c.1700A>G (p.Asp567Gly)
c.1145A>G (p.Asp382Gly)
c.2903A>G (p.Asp968Gly)
c.2708A>G (p.Asp903Gly)
c.2783A>G (p.Asp928Gly)
c.2699A>G (p.Asp900Gly)
12g.2593222A>TCA383372081CACNA1Cc.2615A>T (p.Asp872Val)
c.2540A>T (p.Asp847Val)
c.1032A>T
c.2630A>T (p.Asp877Val)
c.2531A>T (p.Asp844Val)
c.2705A>T (p.Asp902Val)
c.*1147A>T (n.*1147A>T)
c.*2160A>T (n.*2160A>T)
c.375A>T
c.2063A>T (p.Asp688Val)
c.1700A>T (p.Asp567Val)
c.1145A>T (p.Asp382Val)
c.2903A>T (p.Asp968Val)
c.2708A>T (p.Asp903Val)
c.2783A>T (p.Asp928Val)
c.2699A>T (p.Asp900Val)
12g.2593223T>ACA383372083CACNA1Cc.2616T>A (p.Asp872Glu)
c.2541T>A (p.Asp847Glu)
c.1033T>A
c.2631T>A (p.Asp877Glu)
c.2532T>A (p.Asp844Glu)
c.2706T>A (p.Asp902Glu)
c.*1148T>A (n.*1148T>A)
c.*2161T>A (n.*2161T>A)
c.376T>A
c.2064T>A (p.Asp688Glu)
c.1701T>A (p.Asp567Glu)
c.1146T>A (p.Asp382Glu)
c.2904T>A (p.Asp968Glu)
c.2709T>A (p.Asp903Glu)
c.2784T>A (p.Asp928Glu)
c.2700T>A (p.Asp900Glu)
12g.2593223T>CCA477886552CACNA1Cc.2616T>C (p.Asp872=)
c.2541T>C (p.Asp847=)
c.1033T>C
c.2631T>C (p.Asp877=)
c.2532T>C (p.Asp844=)
c.2706T>C (p.Asp902=)
c.*1148T>C (n.*1148T>C)
c.*2161T>C (n.*2161T>C)
c.376T>C
c.2064T>C (p.Asp688=)
c.1701T>C (p.Asp567=)
c.1146T>C (p.Asp382=)
c.2904T>C (p.Asp968=)
c.2709T>C (p.Asp903=)
c.2784T>C (p.Asp928=)
c.2700T>C (p.Asp900=)
12g.2593223T>GCA383372084CACNA1Cc.2616T>G (p.Asp872Glu)
c.2541T>G (p.Asp847Glu)
c.1033T>G
c.2631T>G (p.Asp877Glu)
c.2532T>G (p.Asp844Glu)
c.2706T>G (p.Asp902Glu)
c.*1148T>G (n.*1148T>G)
c.*2161T>G (n.*2161T>G)
c.376T>G
c.2064T>G (p.Asp688Glu)
c.1701T>G (p.Asp567Glu)
c.1146T>G (p.Asp382Glu)
c.2904T>G (p.Asp968Glu)
c.2709T>G (p.Asp903Glu)
c.2784T>G (p.Asp928Glu)
c.2700T>G (p.Asp900Glu)
 dbSNP
12g.2593223T=CA2012308904CACNA1Cc.2616T= (p.Asp872=)
c.2541T= (p.Asp847=)
c.1033T=
c.2631T= (p.Asp877=)
c.2532T= (p.Asp844=)
c.2706T= (p.Asp902=)
c.*1148T= (n.*1148T=)
c.*2161T= (n.*2161T=)
c.376T=
c.2064T= (p.Asp688=)
c.1701T= (p.Asp567=)
c.1146T= (p.Asp382=)
c.2904T= (p.Asp968=)
c.2709T= (p.Asp903=)
c.2784T= (p.Asp928=)
c.2700T= (p.Asp900=)
12g.2593223_2593226delinsTGAGCA2012308903CACNA1Cc.2616_2619delinsTGAG (p.Asp872=)
c.2541_2544delinsTGAG (p.Asp847=)
c.1033_1036delinsTGAG
c.2631_2634delinsTGAG (p.Asp877=)
c.2532_2535delinsTGAG (p.Asp844=)
c.2706_2709delinsTGAG (p.Asp902=)
c.*1148_*1151delinsTGAG (n.*1148_*1151delinsTGAG)
c.*2161_*2164delinsTGAG (n.*2161_*2164delinsTGAG)
c.376_379delinsTGAG
c.2064_2067delinsTGAG (p.Asp688=)
c.1701_1704delinsTGAG (p.Asp567=)
c.1146_1149delinsTGAG (p.Asp382=)
c.2904_2907delinsTGAG (p.Asp968=)
c.2709_2712delinsTGAG (p.Asp903=)
c.2784_2787delinsTGAG (p.Asp928=)
c.2700_2703delinsTGAG (p.Asp900=)
12g.2593224G>ACA383372085CACNA1Cc.2617G>A (p.Glu873Lys)
c.2542G>A (p.Glu848Lys)
c.1034G>A
c.2632G>A (p.Glu878Lys)
c.2533G>A (p.Glu845Lys)
c.2707G>A (p.Glu903Lys)
c.*1149G>A (n.*1149G>A)
c.*2162G>A (n.*2162G>A)
c.377G>A
c.2065G>A (p.Glu689Lys)
c.1702G>A (p.Glu568Lys)
c.1147G>A (p.Glu383Lys)
c.2905G>A (p.Glu969Lys)
c.2710G>A (p.Glu904Lys)
c.2785G>A (p.Glu929Lys)
c.2701G>A (p.Glu901Lys)
12g.2593224G>CCA383372086CACNA1Cc.2617G>C (p.Glu873Gln)
c.2542G>C (p.Glu848Gln)
c.1034G>C
c.2632G>C (p.Glu878Gln)
c.2533G>C (p.Glu845Gln)
c.2707G>C (p.Glu903Gln)
c.*1149G>C (n.*1149G>C)
c.*2162G>C (n.*2162G>C)
c.377G>C
c.2065G>C (p.Glu689Gln)
c.1702G>C (p.Glu568Gln)
c.1147G>C (p.Glu383Gln)
c.2905G>C (p.Glu969Gln)
c.2710G>C (p.Glu904Gln)
c.2785G>C (p.Glu929Gln)
c.2701G>C (p.Glu901Gln)
12g.2593224G=CA2012308905CACNA1Cc.2617G= (p.Glu873=)
c.2542G= (p.Glu848=)
c.1034G=
c.2632G= (p.Glu878=)
c.2533G= (p.Glu845=)
c.2707G= (p.Glu903=)
c.*1149G= (n.*1149G=)
c.*2162G= (n.*2162G=)
c.377G=
c.2065G= (p.Glu689=)
c.1702G= (p.Glu568=)
c.1147G= (p.Glu383=)
c.2905G= (p.Glu969=)
c.2710G= (p.Glu904=)
c.2785G= (p.Glu929=)
c.2701G= (p.Glu901=)
12g.2593224G>TCA383372087CACNA1Cc.2617G>T (p.Glu873Ter)
c.2542G>T (p.Glu848Ter)
c.1034G>T
c.2632G>T (p.Glu878Ter)
c.2533G>T (p.Glu845Ter)
c.2707G>T (p.Glu903Ter)
c.*1149G>T (n.*1149G>T)
c.*2162G>T (n.*2162G>T)
c.377G>T
c.2065G>T (p.Glu689Ter)
c.1702G>T (p.Glu568Ter)
c.1147G>T (p.Glu383Ter)
c.2905G>T (p.Glu969Ter)
c.2710G>T (p.Glu904Ter)
c.2785G>T (p.Glu929Ter)
c.2701G>T (p.Glu901Ter)
 dbSNP
12g.2593230_2593232dupCA2012308906CACNA1Cc.2623_2625dup (p.Glu875_Pro876insGlu)
c.2548_2550dup (p.Glu850_Pro851insGlu)
c.1040_1042dup
c.2638_2640dup (p.Glu880_Pro881insGlu)
c.2539_2541dup (p.Glu847_Pro848insGlu)
c.2713_2715dup (p.Glu905_Pro906insGlu)
c.*1155_*1157dup (n.*1155_*1157dup)
c.*2168_*2170dup (n.*2168_*2170dup)
c.383_385dup
c.2071_2073dup (p.Glu691_Pro692insGlu)
c.1708_1710dup (p.Glu570_Pro571insGlu)
c.1153_1155dup (p.Glu385_Pro386insGlu)
c.2911_2913dup (p.Glu971_Pro972insGlu)
c.2716_2718dup (p.Glu906_Pro907insGlu)
c.2791_2793dup (p.Glu931_Pro932insGlu)
c.2707_2709dup (p.Glu903_Pro904insGlu)
 dbSNP
12g.2593230_2593232delCA241148CACNA1Cc.2623_2625del (p.Glu875del)
c.2548_2550del (p.Glu850del)
c.1040_1042del
c.2638_2640del (p.Glu880del)
c.2539_2541del (p.Glu847del)
c.2713_2715del (p.Glu905del)
c.*1155_*1157del (n.*1155_*1157del)
c.*2168_*2170del (n.*2168_*2170del)
c.383_385del
c.2071_2073del (p.Glu691del)
c.1708_1710del (p.Glu570del)
c.1153_1155del (p.Glu385del)
c.2911_2913del (p.Glu971del)
c.2716_2718del (p.Glu906del)
c.2791_2793del (p.Glu931del)
c.2707_2709del (p.Glu903del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2593225A>CCA383372088CACNA1Cc.2618A>C (p.Glu873Ala)
c.2543A>C (p.Glu848Ala)
c.1035A>C
c.2633A>C (p.Glu878Ala)
c.2534A>C (p.Glu845Ala)
c.2708A>C (p.Glu903Ala)
c.*1150A>C (n.*1150A>C)
c.*2163A>C (n.*2163A>C)
c.378A>C
c.2066A>C (p.Glu689Ala)
c.1703A>C (p.Glu568Ala)
c.1148A>C (p.Glu383Ala)
c.2906A>C (p.Glu969Ala)
c.2711A>C (p.Glu904Ala)
c.2786A>C (p.Glu929Ala)
c.2702A>C (p.Glu901Ala)
12g.2593225A>GCA383372089CACNA1Cc.2618A>G (p.Glu873Gly)
c.2543A>G (p.Glu848Gly)
c.1035A>G
c.2633A>G (p.Glu878Gly)
c.2534A>G (p.Glu845Gly)
c.2708A>G (p.Glu903Gly)
c.*1150A>G (n.*1150A>G)
c.*2163A>G (n.*2163A>G)
c.378A>G
c.2066A>G (p.Glu689Gly)
c.1703A>G (p.Glu568Gly)
c.1148A>G (p.Glu383Gly)
c.2906A>G (p.Glu969Gly)
c.2711A>G (p.Glu904Gly)
c.2786A>G (p.Glu929Gly)
c.2702A>G (p.Glu901Gly)
12g.2593225A>TCA383372090CACNA1Cc.2618A>T (p.Glu873Val)
c.2543A>T (p.Glu848Val)
c.1035A>T
c.2633A>T (p.Glu878Val)
c.2534A>T (p.Glu845Val)
c.2708A>T (p.Glu903Val)
c.*1150A>T (n.*1150A>T)
c.*2163A>T (n.*2163A>T)
c.378A>T
c.2066A>T (p.Glu689Val)
c.1703A>T (p.Glu568Val)
c.1148A>T (p.Glu383Val)
c.2906A>T (p.Glu969Val)
c.2711A>T (p.Glu904Val)
c.2786A>T (p.Glu929Val)
c.2702A>T (p.Glu901Val)
12g.2593226G>ACA6389007CACNA1Cc.2619G>A (p.Glu873=)
c.2544G>A (p.Glu848=)
c.1036G>A
c.2634G>A (p.Glu878=)
c.2535G>A (p.Glu845=)
c.2709G>A (p.Glu903=)
c.*1151G>A (n.*1151G>A)
c.*2164G>A (n.*2164G>A)
c.379G>A
c.2067G>A (p.Glu689=)
c.1704G>A (p.Glu568=)
c.1149G>A (p.Glu383=)
c.2907G>A (p.Glu969=)
c.2712G>A (p.Glu904=)
c.2787G>A (p.Glu929=)
c.2703G>A (p.Glu901=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2593226G>CCA383372092CACNA1Cc.2619G>C (p.Glu873Asp)
c.2544G>C (p.Glu848Asp)
c.1036G>C
c.2634G>C (p.Glu878Asp)
c.2535G>C (p.Glu845Asp)
c.2709G>C (p.Glu903Asp)
c.*1151G>C (n.*1151G>C)
c.*2164G>C (n.*2164G>C)
c.379G>C
c.2067G>C (p.Glu689Asp)
c.1704G>C (p.Glu568Asp)
c.1149G>C (p.Glu383Asp)
c.2907G>C (p.Glu969Asp)
c.2712G>C (p.Glu904Asp)
c.2787G>C (p.Glu929Asp)
c.2703G>C (p.Glu901Asp)
12g.2593226G=CA2012308907CACNA1Cc.2619G= (p.Glu873=)
c.2544G= (p.Glu848=)
c.1036G=
c.2634G= (p.Glu878=)
c.2535G= (p.Glu845=)
c.2709G= (p.Glu903=)
c.*1151G= (n.*1151G=)
c.*2164G= (n.*2164G=)
c.379G=
c.2067G= (p.Glu689=)
c.1704G= (p.Glu568=)
c.1149G= (p.Glu383=)
c.2907G= (p.Glu969=)
c.2712G= (p.Glu904=)
c.2787G= (p.Glu929=)
c.2703G= (p.Glu901=)
12g.2593226G>TCA383372091CACNA1Cc.2619G>T (p.Glu873Asp)
c.2544G>T (p.Glu848Asp)
c.1036G>T
c.2634G>T (p.Glu878Asp)
c.2535G>T (p.Glu845Asp)
c.2709G>T (p.Glu903Asp)
c.*1151G>T (n.*1151G>T)
c.*2164G>T (n.*2164G>T)
c.379G>T
c.2067G>T (p.Glu689Asp)
c.1704G>T (p.Glu568Asp)
c.1149G>T (p.Glu383Asp)
c.2907G>T (p.Glu969Asp)
c.2712G>T (p.Glu904Asp)
c.2787G>T (p.Glu929Asp)
c.2703G>T (p.Glu901Asp)
12g.2593227G>ACA231594260CACNA1Cc.2620G>A (p.Glu874Lys)
c.2545G>A (p.Glu849Lys)
c.1037G>A
c.2635G>A (p.Glu879Lys)
c.2536G>A (p.Glu846Lys)
c.2710G>A (p.Glu904Lys)
c.*1152G>A (n.*1152G>A)
c.*2165G>A (n.*2165G>A)
c.380G>A
c.2068G>A (p.Glu690Lys)
c.1705G>A (p.Glu569Lys)
c.1150G>A (p.Glu384Lys)
c.2908G>A (p.Glu970Lys)
c.2713G>A (p.Glu905Lys)
c.2788G>A (p.Glu930Lys)
c.2704G>A (p.Glu902Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.2593227G>CCA383372093CACNA1Cc.2620G>C (p.Glu874Gln)
c.2545G>C (p.Glu849Gln)
c.1037G>C
c.2635G>C (p.Glu879Gln)
c.2536G>C (p.Glu846Gln)
c.2710G>C (p.Glu904Gln)
c.*1152G>C (n.*1152G>C)
c.*2165G>C (n.*2165G>C)
c.380G>C
c.2068G>C (p.Glu690Gln)
c.1705G>C (p.Glu569Gln)
c.1150G>C (p.Glu384Gln)
c.2908G>C (p.Glu970Gln)
c.2713G>C (p.Glu905Gln)
c.2788G>C (p.Glu930Gln)
c.2704G>C (p.Glu902Gln)
 gnomAD v4
12g.2593227G=CA2012308908CACNA1Cc.2620G= (p.Glu874=)
c.2545G= (p.Glu849=)
c.1037G=
c.2635G= (p.Glu879=)
c.2536G= (p.Glu846=)
c.2710G= (p.Glu904=)
c.*1152G= (n.*1152G=)
c.*2165G= (n.*2165G=)
c.380G=
c.2068G= (p.Glu690=)
c.1705G= (p.Glu569=)
c.1150G= (p.Glu384=)
c.2908G= (p.Glu970=)
c.2713G= (p.Glu905=)
c.2788G= (p.Glu930=)
c.2704G= (p.Glu902=)
12g.2593227G>TCA383372094CACNA1Cc.2620G>T (p.Glu874Ter)
c.2545G>T (p.Glu849Ter)
c.1037G>T
c.2635G>T (p.Glu879Ter)
c.2536G>T (p.Glu846Ter)
c.2710G>T (p.Glu904Ter)
c.*1152G>T (n.*1152G>T)
c.*2165G>T (n.*2165G>T)
c.380G>T
c.2068G>T (p.Glu690Ter)
c.1705G>T (p.Glu569Ter)
c.1150G>T (p.Glu384Ter)
c.2908G>T (p.Glu970Ter)
c.2713G>T (p.Glu905Ter)
c.2788G>T (p.Glu930Ter)
c.2704G>T (p.Glu902Ter)
 dbSNP
12g.2593228A>CCA383372095CACNA1Cc.2621A>C (p.Glu874Ala)
c.2546A>C (p.Glu849Ala)
c.1038A>C
c.2636A>C (p.Glu879Ala)
c.2537A>C (p.Glu846Ala)
c.2711A>C (p.Glu904Ala)
c.*1153A>C (n.*1153A>C)
c.*2166A>C (n.*2166A>C)
c.381A>C
c.2069A>C (p.Glu690Ala)
c.1706A>C (p.Glu569Ala)
c.1151A>C (p.Glu384Ala)
c.2909A>C (p.Glu970Ala)
c.2714A>C (p.Glu905Ala)
c.2789A>C (p.Glu930Ala)
c.2705A>C (p.Glu902Ala)
12g.2593228A>GCA383372096CACNA1Cc.2621A>G (p.Glu874Gly)
c.2546A>G (p.Glu849Gly)
c.1038A>G
c.2636A>G (p.Glu879Gly)
c.2537A>G (p.Glu846Gly)
c.2711A>G (p.Glu904Gly)
c.*1153A>G (n.*1153A>G)
c.*2166A>G (n.*2166A>G)
c.381A>G
c.2069A>G (p.Glu690Gly)
c.1706A>G (p.Glu569Gly)
c.1151A>G (p.Glu384Gly)
c.2909A>G (p.Glu970Gly)
c.2714A>G (p.Glu905Gly)
c.2789A>G (p.Glu930Gly)
c.2705A>G (p.Glu902Gly)
12g.2593228A>TCA383372097CACNA1Cc.2621A>T (p.Glu874Val)
c.2546A>T (p.Glu849Val)
c.1038A>T
c.2636A>T (p.Glu879Val)
c.2537A>T (p.Glu846Val)
c.2711A>T (p.Glu904Val)
c.*1153A>T (n.*1153A>T)
c.*2166A>T (n.*2166A>T)
c.381A>T
c.2069A>T (p.Glu690Val)
c.1706A>T (p.Glu569Val)
c.1151A>T (p.Glu384Val)
c.2909A>T (p.Glu970Val)
c.2714A>T (p.Glu905Val)
c.2789A>T (p.Glu930Val)
c.2705A>T (p.Glu902Val)
12g.2593229G>ACA6389008CACNA1Cc.2622G>A (p.Glu874=)
c.2547G>A (p.Glu849=)
c.1039G>A
c.2637G>A (p.Glu879=)
c.2538G>A (p.Glu846=)
c.2712G>A (p.Glu904=)
c.*1154G>A (n.*1154G>A)
c.*2167G>A (n.*2167G>A)
c.382G>A
c.2070G>A (p.Glu690=)
c.1707G>A (p.Glu569=)
c.1152G>A (p.Glu384=)
c.2910G>A (p.Glu970=)
c.2715G>A (p.Glu905=)
c.2790G>A (p.Glu930=)
c.2706G>A (p.Glu902=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2593229G>CCA383372098CACNA1Cc.2622G>C (p.Glu874Asp)
c.2547G>C (p.Glu849Asp)
c.1039G>C
c.2637G>C (p.Glu879Asp)
c.2538G>C (p.Glu846Asp)
c.2712G>C (p.Glu904Asp)
c.*1154G>C (n.*1154G>C)
c.*2167G>C (n.*2167G>C)
c.382G>C
c.2070G>C (p.Glu690Asp)
c.1707G>C (p.Glu569Asp)
c.1152G>C (p.Glu384Asp)
c.2910G>C (p.Glu970Asp)
c.2715G>C (p.Glu905Asp)
c.2790G>C (p.Glu930Asp)
c.2706G>C (p.Glu902Asp)
12g.2593229G=CA2012308909CACNA1Cc.2622G= (p.Glu874=)
c.2547G= (p.Glu849=)
c.1039G=
c.2637G= (p.Glu879=)
c.2538G= (p.Glu846=)
c.2712G= (p.Glu904=)
c.*1154G= (n.*1154G=)
c.*2167G= (n.*2167G=)
c.382G=
c.2070G= (p.Glu690=)
c.1707G= (p.Glu569=)
c.1152G= (p.Glu384=)
c.2910G= (p.Glu970=)
c.2715G= (p.Glu905=)
c.2790G= (p.Glu930=)
c.2706G= (p.Glu902=)
12g.2593229G>TCA383372099CACNA1Cc.2622G>T (p.Glu874Asp)
c.2547G>T (p.Glu849Asp)
c.1039G>T
c.2637G>T (p.Glu879Asp)
c.2538G>T (p.Glu846Asp)
c.2712G>T (p.Glu904Asp)
c.*1154G>T (n.*1154G>T)
c.*2167G>T (n.*2167G>T)
c.382G>T
c.2070G>T (p.Glu690Asp)
c.1707G>T (p.Glu569Asp)
c.1152G>T (p.Glu384Asp)
c.2910G>T (p.Glu970Asp)
c.2715G>T (p.Glu905Asp)
c.2790G>T (p.Glu930Asp)
c.2706G>T (p.Glu902Asp)
12g.2593230G>ACA383372100CACNA1Cc.2623G>A (p.Glu875Lys)
c.2548G>A (p.Glu850Lys)
c.1040G>A
c.2638G>A (p.Glu880Lys)
c.2539G>A (p.Glu847Lys)
c.2713G>A (p.Glu905Lys)
c.*1155G>A (n.*1155G>A)
c.*2168G>A (n.*2168G>A)
c.383G>A
c.2071G>A (p.Glu691Lys)
c.1708G>A (p.Glu570Lys)
c.1153G>A (p.Glu385Lys)
c.2911G>A (p.Glu971Lys)
c.2716G>A (p.Glu906Lys)
c.2791G>A (p.Glu931Lys)
c.2707G>A (p.Glu903Lys)
 gnomAD v4
12g.2593230G>CCA383372101CACNA1Cc.2623G>C (p.Glu875Gln)
c.2548G>C (p.Glu850Gln)
c.1040G>C
c.2638G>C (p.Glu880Gln)
c.2539G>C (p.Glu847Gln)
c.2713G>C (p.Glu905Gln)
c.*1155G>C (n.*1155G>C)
c.*2168G>C (n.*2168G>C)
c.383G>C
c.2071G>C (p.Glu691Gln)
c.1708G>C (p.Glu570Gln)
c.1153G>C (p.Glu385Gln)
c.2911G>C (p.Glu971Gln)
c.2716G>C (p.Glu906Gln)
c.2791G>C (p.Glu931Gln)
c.2707G>C (p.Glu903Gln)
12g.2593230G=CA2012308910CACNA1Cc.2623G= (p.Glu875=)
c.2548G= (p.Glu850=)
c.1040G=
c.2638G= (p.Glu880=)
c.2539G= (p.Glu847=)
c.2713G= (p.Glu905=)
c.*1155G= (n.*1155G=)
c.*2168G= (n.*2168G=)
c.383G=
c.2071G= (p.Glu691=)
c.1708G= (p.Glu570=)
c.1153G= (p.Glu385=)
c.2911G= (p.Glu971=)
c.2716G= (p.Glu906=)
c.2791G= (p.Glu931=)
c.2707G= (p.Glu903=)
12g.2593230G>TCA383372102CACNA1Cc.2623G>T (p.Glu875Ter)
c.2548G>T (p.Glu850Ter)
c.1040G>T
c.2638G>T (p.Glu880Ter)
c.2539G>T (p.Glu847Ter)
c.2713G>T (p.Glu905Ter)
c.*1155G>T (n.*1155G>T)
c.*2168G>T (n.*2168G>T)
c.383G>T
c.2071G>T (p.Glu691Ter)
c.1708G>T (p.Glu570Ter)
c.1153G>T (p.Glu385Ter)
c.2911G>T (p.Glu971Ter)
c.2716G>T (p.Glu906Ter)
c.2791G>T (p.Glu931Ter)
c.2707G>T (p.Glu903Ter)
 dbSNP
12g.2593231A>CCA383372105CACNA1Cc.2624A>C (p.Glu875Ala)
c.2549A>C (p.Glu850Ala)
c.1041A>C
c.2639A>C (p.Glu880Ala)
c.2540A>C (p.Glu847Ala)
c.2714A>C (p.Glu905Ala)
c.*1156A>C (n.*1156A>C)
c.*2169A>C (n.*2169A>C)
c.384A>C
c.2072A>C (p.Glu691Ala)
c.1709A>C (p.Glu570Ala)
c.1154A>C (p.Glu385Ala)
c.2912A>C (p.Glu971Ala)
c.2717A>C (p.Glu906Ala)
c.2792A>C (p.Glu931Ala)
c.2708A>C (p.Glu903Ala)
12g.2593231A>GCA383372104CACNA1Cc.2624A>G (p.Glu875Gly)
c.2549A>G (p.Glu850Gly)
c.1041A>G
c.2639A>G (p.Glu880Gly)
c.2540A>G (p.Glu847Gly)
c.2714A>G (p.Glu905Gly)
c.*1156A>G (n.*1156A>G)
c.*2169A>G (n.*2169A>G)
c.384A>G
c.2072A>G (p.Glu691Gly)
c.1709A>G (p.Glu570Gly)
c.1154A>G (p.Glu385Gly)
c.2912A>G (p.Glu971Gly)
c.2717A>G (p.Glu906Gly)
c.2792A>G (p.Glu931Gly)
c.2708A>G (p.Glu903Gly)
12g.2593231A>TCA383372103CACNA1Cc.2624A>T (p.Glu875Val)
c.2549A>T (p.Glu850Val)
c.1041A>T
c.2639A>T (p.Glu880Val)
c.2540A>T (p.Glu847Val)
c.2714A>T (p.Glu905Val)
c.*1156A>T (n.*1156A>T)
c.*2169A>T (n.*2169A>T)
c.384A>T
c.2072A>T (p.Glu691Val)
c.1709A>T (p.Glu570Val)
c.1154A>T (p.Glu385Val)
c.2912A>T (p.Glu971Val)
c.2717A>T (p.Glu906Val)
c.2792A>T (p.Glu931Val)
c.2708A>T (p.Glu903Val)
12g.2593232G>ACA477886619CACNA1Cc.2625G>A (p.Glu875=)
c.2550G>A (p.Glu850=)
c.1042G>A
c.2640G>A (p.Glu880=)
c.2541G>A (p.Glu847=)
c.2715G>A (p.Glu905=)
c.*1157G>A (n.*1157G>A)
c.*2170G>A (n.*2170G>A)
c.385G>A
c.2073G>A (p.Glu691=)
c.1710G>A (p.Glu570=)
c.1155G>A (p.Glu385=)
c.2913G>A (p.Glu971=)
c.2718G>A (p.Glu906=)
c.2793G>A (p.Glu931=)
c.2709G>A (p.Glu903=)
 gnomAD v4
12g.2593232G>CCA6389009CACNA1Cc.2625G>C (p.Glu875Asp)
c.2550G>C (p.Glu850Asp)
c.1042G>C
c.2640G>C (p.Glu880Asp)
c.2541G>C (p.Glu847Asp)
c.2715G>C (p.Glu905Asp)
c.*1157G>C (n.*1157G>C)
c.*2170G>C (n.*2170G>C)
c.385G>C
c.2073G>C (p.Glu691Asp)
c.1710G>C (p.Glu570Asp)
c.1155G>C (p.Glu385Asp)
c.2913G>C (p.Glu971Asp)
c.2718G>C (p.Glu906Asp)
c.2793G>C (p.Glu931Asp)
c.2709G>C (p.Glu903Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.2593232G=CA2012308911CACNA1Cc.2625G= (p.Glu875=)
c.2550G= (p.Glu850=)
c.1042G=
c.2640G= (p.Glu880=)
c.2541G= (p.Glu847=)
c.2715G= (p.Glu905=)
c.*1157G= (n.*1157G=)
c.*2170G= (n.*2170G=)
c.385G=
c.2073G= (p.Glu691=)
c.1710G= (p.Glu570=)
c.1155G= (p.Glu385=)
c.2913G= (p.Glu971=)
c.2718G= (p.Glu906=)
c.2793G= (p.Glu931=)
c.2709G= (p.Glu903=)
12g.2593232G>TCA383372106CACNA1Cc.2625G>T (p.Glu875Asp)
c.2550G>T (p.Glu850Asp)
c.1042G>T
c.2640G>T (p.Glu880Asp)
c.2541G>T (p.Glu847Asp)
c.2715G>T (p.Glu905Asp)
c.*1157G>T (n.*1157G>T)
c.*2170G>T (n.*2170G>T)
c.385G>T
c.2073G>T (p.Glu691Asp)
c.1710G>T (p.Glu570Asp)
c.1155G>T (p.Glu385Asp)
c.2913G>T (p.Glu971Asp)
c.2718G>T (p.Glu906Asp)
c.2793G>T (p.Glu931Asp)
c.2709G>T (p.Glu903Asp)
12g.2593233C>ACA383372107CACNA1Cc.2626C>A (p.Pro876Thr)
c.2551C>A (p.Pro851Thr)
c.1043C>A
c.2641C>A (p.Pro881Thr)
c.2542C>A (p.Pro848Thr)
c.2716C>A (p.Pro906Thr)
c.*1158C>A (n.*1158C>A)
c.*2171C>A (n.*2171C>A)
c.386C>A
c.2074C>A (p.Pro692Thr)
c.1711C>A (p.Pro571Thr)
c.1156C>A (p.Pro386Thr)
c.2914C>A (p.Pro972Thr)
c.2719C>A (p.Pro907Thr)
c.2794C>A (p.Pro932Thr)
c.2710C>A (p.Pro904Thr)
12g.2593233C>GCA383372108CACNA1Cc.2626C>G (p.Pro876Ala)
c.2551C>G (p.Pro851Ala)
c.1043C>G
c.2641C>G (p.Pro881Ala)
c.2542C>G (p.Pro848Ala)
c.2716C>G (p.Pro906Ala)
c.*1158C>G (n.*1158C>G)
c.*2171C>G (n.*2171C>G)
c.386C>G
c.2074C>G (p.Pro692Ala)
c.1711C>G (p.Pro571Ala)
c.1156C>G (p.Pro386Ala)
c.2914C>G (p.Pro972Ala)
c.2719C>G (p.Pro907Ala)
c.2794C>G (p.Pro932Ala)
c.2710C>G (p.Pro904Ala)
12g.2593233C>TCA383372109CACNA1Cc.2626C>T (p.Pro876Ser)
c.2551C>T (p.Pro851Ser)
c.1043C>T
c.2641C>T (p.Pro881Ser)
c.2542C>T (p.Pro848Ser)
c.2716C>T (p.Pro906Ser)
c.*1158C>T (n.*1158C>T)
c.*2171C>T (n.*2171C>T)
c.386C>T
c.2074C>T (p.Pro692Ser)
c.1711C>T (p.Pro571Ser)
c.1156C>T (p.Pro386Ser)
c.2914C>T (p.Pro972Ser)
c.2719C>T (p.Pro907Ser)
c.2794C>T (p.Pro932Ser)
c.2710C>T (p.Pro904Ser)
12g.2593234C>ACA383372110CACNA1Cc.2627C>A (p.Pro876Gln)
c.2552C>A (p.Pro851Gln)
c.1044C>A
c.2642C>A (p.Pro881Gln)
c.2543C>A (p.Pro848Gln)
c.2717C>A (p.Pro906Gln)
c.*1159C>A (n.*1159C>A)
c.*2172C>A (n.*2172C>A)
c.387C>A
c.2075C>A (p.Pro692Gln)
c.1712C>A (p.Pro571Gln)
c.1157C>A (p.Pro386Gln)
c.2915C>A (p.Pro972Gln)
c.2720C>A (p.Pro907Gln)
c.2795C>A (p.Pro932Gln)
c.2711C>A (p.Pro904Gln)
12g.2593234C>GCA383372111CACNA1Cc.2627C>G (p.Pro876Arg)
c.2552C>G (p.Pro851Arg)
c.1044C>G
c.2642C>G (p.Pro881Arg)
c.2543C>G (p.Pro848Arg)
c.2717C>G (p.Pro906Arg)
c.*1159C>G (n.*1159C>G)
c.*2172C>G (n.*2172C>G)
c.387C>G
c.2075C>G (p.Pro692Arg)
c.1712C>G (p.Pro571Arg)
c.1157C>G (p.Pro386Arg)
c.2915C>G (p.Pro972Arg)
c.2720C>G (p.Pro907Arg)
c.2795C>G (p.Pro932Arg)
c.2711C>G (p.Pro904Arg)
12g.2593234C>TCA383372112CACNA1Cc.2627C>T (p.Pro876Leu)
c.2552C>T (p.Pro851Leu)
c.1044C>T
c.2642C>T (p.Pro881Leu)
c.2543C>T (p.Pro848Leu)
c.2717C>T (p.Pro906Leu)
c.*1159C>T (n.*1159C>T)
c.*2172C>T (n.*2172C>T)
c.387C>T
c.2075C>T (p.Pro692Leu)
c.1712C>T (p.Pro571Leu)
c.1157C>T (p.Pro386Leu)
c.2915C>T (p.Pro972Leu)
c.2720C>T (p.Pro907Leu)
c.2795C>T (p.Pro932Leu)
c.2711C>T (p.Pro904Leu)
12g.2593235A=CA2012308912CACNA1Cc.2628A= (p.Pro876=)
c.2553A= (p.Pro851=)
c.1045A=
c.2643A= (p.Pro881=)
c.2544A= (p.Pro848=)
c.2718A= (p.Pro906=)
c.*1160A= (n.*1160A=)
c.*2173A= (n.*2173A=)
c.388A=
c.2076A= (p.Pro692=)
c.1713A= (p.Pro571=)
c.1158A= (p.Pro386=)
c.2916A= (p.Pro972=)
c.2721A= (p.Pro907=)
c.2796A= (p.Pro932=)
c.2712A= (p.Pro904=)
12g.2593235A>CCA477886632CACNA1Cc.2628A>C (p.Pro876=)
c.2553A>C (p.Pro851=)
c.1045A>C
c.2643A>C (p.Pro881=)
c.2544A>C (p.Pro848=)
c.2718A>C (p.Pro906=)
c.*1160A>C (n.*1160A>C)
c.*2173A>C (n.*2173A>C)
c.388A>C
c.2076A>C (p.Pro692=)
c.1713A>C (p.Pro571=)
c.1158A>C (p.Pro386=)
c.2916A>C (p.Pro972=)
c.2721A>C (p.Pro907=)
c.2796A>C (p.Pro932=)
c.2712A>C (p.Pro904=)
12g.2593235A>GCA6389010CACNA1Cc.2628A>G (p.Pro876=)
c.2553A>G (p.Pro851=)
c.1045A>G
c.2643A>G (p.Pro881=)
c.2544A>G (p.Pro848=)
c.2718A>G (p.Pro906=)
c.*1160A>G (n.*1160A>G)
c.*2173A>G (n.*2173A>G)
c.388A>G
c.2076A>G (p.Pro692=)
c.1713A>G (p.Pro571=)
c.1158A>G (p.Pro386=)
c.2916A>G (p.Pro972=)
c.2721A>G (p.Pro907=)
c.2796A>G (p.Pro932=)
c.2712A>G (p.Pro904=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.2593235A>TCA477886635CACNA1Cc.2628A>T (p.Pro876=)
c.2553A>T (p.Pro851=)
c.1045A>T
c.2643A>T (p.Pro881=)
c.2544A>T (p.Pro848=)
c.2718A>T (p.Pro906=)
c.*1160A>T (n.*1160A>T)
c.*2173A>T (n.*2173A>T)
c.388A>T
c.2076A>T (p.Pro692=)
c.1713A>T (p.Pro571=)
c.1158A>T (p.Pro386=)
c.2916A>T (p.Pro972=)
c.2721A>T (p.Pro907=)
c.2796A>T (p.Pro932=)
c.2712A>T (p.Pro904=)
12g.2593236G>ACA383372113CACNA1Cc.2629G>A (p.Glu877Lys)
c.2554G>A (p.Glu852Lys)
c.1046G>A
c.2644G>A (p.Glu882Lys)
c.2545G>A (p.Glu849Lys)
c.2719G>A (p.Glu907Lys)
c.*1161G>A (n.*1161G>A)
c.*2174G>A (n.*2174G>A)
c.389G>A
c.2077G>A (p.Glu693Lys)
c.1714G>A (p.Glu572Lys)
c.1159G>A (p.Glu387Lys)
c.2917G>A (p.Glu973Lys)
c.2722G>A (p.Glu908Lys)
c.2797G>A (p.Glu933Lys)
c.2713G>A (p.Glu905Lys)
12g.2593236G>CCA383372114CACNA1Cc.2629G>C (p.Glu877Gln)
c.2554G>C (p.Glu852Gln)
c.1046G>C
c.2644G>C (p.Glu882Gln)
c.2545G>C (p.Glu849Gln)
c.2719G>C (p.Glu907Gln)
c.*1161G>C (n.*1161G>C)
c.*2174G>C (n.*2174G>C)
c.389G>C
c.2077G>C (p.Glu693Gln)
c.1714G>C (p.Glu572Gln)
c.1159G>C (p.Glu387Gln)
c.2917G>C (p.Glu973Gln)
c.2722G>C (p.Glu908Gln)
c.2797G>C (p.Glu933Gln)
c.2713G>C (p.Glu905Gln)
12g.2593236G=CA2012308913CACNA1Cc.2629G= (p.Glu877=)
c.2554G= (p.Glu852=)
c.1046G=
c.2644G= (p.Glu882=)
c.2545G= (p.Glu849=)
c.2719G= (p.Glu907=)
c.*1161G= (n.*1161G=)
c.*2174G= (n.*2174G=)
c.389G=
c.2077G= (p.Glu693=)
c.1714G= (p.Glu572=)
c.1159G= (p.Glu387=)
c.2917G= (p.Glu973=)
c.2722G= (p.Glu908=)
c.2797G= (p.Glu933=)
c.2713G= (p.Glu905=)
12g.2593236G>TCA383372115CACNA1Cc.2629G>T (p.Glu877Ter)
c.2554G>T (p.Glu852Ter)
c.1046G>T
c.2644G>T (p.Glu882Ter)
c.2545G>T (p.Glu849Ter)
c.2719G>T (p.Glu907Ter)
c.*1161G>T (n.*1161G>T)
c.*2174G>T (n.*2174G>T)
c.389G>T
c.2077G>T (p.Glu693Ter)
c.1714G>T (p.Glu572Ter)
c.1159G>T (p.Glu387Ter)
c.2917G>T (p.Glu973Ter)
c.2722G>T (p.Glu908Ter)
c.2797G>T (p.Glu933Ter)
c.2713G>T (p.Glu905Ter)
 dbSNP
12g.2593237A>CCA383372117CACNA1Cc.2630A>C (p.Glu877Ala)
c.2555A>C (p.Glu852Ala)
c.1047A>C
c.2645A>C (p.Glu882Ala)
c.2546A>C (p.Glu849Ala)
c.2720A>C (p.Glu907Ala)
c.*1162A>C (n.*1162A>C)
c.*2175A>C (n.*2175A>C)
c.390A>C
c.2078A>C (p.Glu693Ala)
c.1715A>C (p.Glu572Ala)
c.1160A>C (p.Glu387Ala)
c.2918A>C (p.Glu973Ala)
c.2723A>C (p.Glu908Ala)
c.2798A>C (p.Glu933Ala)
c.2714A>C (p.Glu905Ala)
 ClinVar gnomAD v4
12g.2593237A>GCA383372118CACNA1Cc.2630A>G (p.Glu877Gly)
c.2555A>G (p.Glu852Gly)
c.1047A>G
c.2645A>G (p.Glu882Gly)
c.2546A>G (p.Glu849Gly)
c.2720A>G (p.Glu907Gly)
c.*1162A>G (n.*1162A>G)
c.*2175A>G (n.*2175A>G)
c.390A>G
c.2078A>G (p.Glu693Gly)
c.1715A>G (p.Glu572Gly)
c.1160A>G (p.Glu387Gly)
c.2918A>G (p.Glu973Gly)
c.2723A>G (p.Glu908Gly)
c.2798A>G (p.Glu933Gly)
c.2714A>G (p.Glu905Gly)
 gnomAD v4
12g.2593237A>TCA383372116CACNA1Cc.2630A>T (p.Glu877Val)
c.2555A>T (p.Glu852Val)
c.1047A>T
c.2645A>T (p.Glu882Val)
c.2546A>T (p.Glu849Val)
c.2720A>T (p.Glu907Val)
c.*1162A>T (n.*1162A>T)
c.*2175A>T (n.*2175A>T)
c.390A>T
c.2078A>T (p.Glu693Val)
c.1715A>T (p.Glu572Val)
c.1160A>T (p.Glu387Val)
c.2918A>T (p.Glu973Val)
c.2723A>T (p.Glu908Val)
c.2798A>T (p.Glu933Val)
c.2714A>T (p.Glu905Val)
12g.2593238G>ACA477886655CACNA1Cc.2631G>A (p.Glu877=)
c.2556G>A (p.Glu852=)
c.1048G>A
c.2646G>A (p.Glu882=)
c.2547G>A (p.Glu849=)
c.2721G>A (p.Glu907=)
c.*1163G>A (n.*1163G>A)
c.*2176G>A (n.*2176G>A)
c.391G>A
c.2079G>A (p.Glu693=)
c.1716G>A (p.Glu572=)
c.1161G>A (p.Glu387=)
c.2919G>A (p.Glu973=)
c.2724G>A (p.Glu908=)
c.2799G>A (p.Glu933=)
c.2715G>A (p.Glu905=)
12g.2593238G>CCA383372119CACNA1Cc.2631G>C (p.Glu877Asp)
c.2556G>C (p.Glu852Asp)
c.1048G>C
c.2646G>C (p.Glu882Asp)
c.2547G>C (p.Glu849Asp)
c.2721G>C (p.Glu907Asp)
c.*1163G>C (n.*1163G>C)
c.*2176G>C (n.*2176G>C)
c.391G>C
c.2079G>C (p.Glu693Asp)
c.1716G>C (p.Glu572Asp)
c.1161G>C (p.Glu387Asp)
c.2919G>C (p.Glu973Asp)
c.2724G>C (p.Glu908Asp)
c.2799G>C (p.Glu933Asp)
c.2715G>C (p.Glu905Asp)
 dbSNP gnomAD v2 gnomAD v4
12g.2593238G=CA2012308914CACNA1Cc.2631G= (p.Glu877=)
c.2556G= (p.Glu852=)
c.1048G=
c.2646G= (p.Glu882=)
c.2547G= (p.Glu849=)
c.2721G= (p.Glu907=)
c.*1163G= (n.*1163G=)
c.*2176G= (n.*2176G=)
c.391G=
c.2079G= (p.Glu693=)
c.1716G= (p.Glu572=)
c.1161G= (p.Glu387=)
c.2919G= (p.Glu973=)
c.2724G= (p.Glu908=)
c.2799G= (p.Glu933=)
c.2715G= (p.Glu905=)
12g.2593238G>TCA383372120CACNA1Cc.2631G>T (p.Glu877Asp)
c.2556G>T (p.Glu852Asp)
c.1048G>T
c.2646G>T (p.Glu882Asp)
c.2547G>T (p.Glu849Asp)
c.2721G>T (p.Glu907Asp)
c.*1163G>T (n.*1163G>T)
c.*2176G>T (n.*2176G>T)
c.391G>T
c.2079G>T (p.Glu693Asp)
c.1716G>T (p.Glu572Asp)
c.1161G>T (p.Glu387Asp)
c.2919G>T (p.Glu973Asp)
c.2724G>T (p.Glu908Asp)
c.2799G>T (p.Glu933Asp)
c.2715G>T (p.Glu905Asp)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2593239A=CA2012308915CACNA1Cc.2632A= (p.Met878=)
c.2557A= (p.Met853=)
c.1049A=
c.2647A= (p.Met883=)
c.2548A= (p.Met850=)
c.2722A= (p.Met908=)
c.*1164A= (n.*1164A=)
c.*2177A= (n.*2177A=)
c.392A=
c.2080A= (p.Met694=)
c.1717A= (p.Met573=)
c.1162A= (p.Met388=)
c.2920A= (p.Met974=)
c.2725A= (p.Met909=)
c.2800A= (p.Met934=)
c.2716A= (p.Met906=)
12g.2593239A>CCA383372121CACNA1Cc.2632A>C (p.Met878Leu)
c.2557A>C (p.Met853Leu)
c.1049A>C
c.2647A>C (p.Met883Leu)
c.2548A>C (p.Met850Leu)
c.2722A>C (p.Met908Leu)
c.*1164A>C (n.*1164A>C)
c.*2177A>C (n.*2177A>C)
c.392A>C
c.2080A>C (p.Met694Leu)
c.1717A>C (p.Met573Leu)
c.1162A>C (p.Met388Leu)
c.2920A>C (p.Met974Leu)
c.2725A>C (p.Met909Leu)
c.2800A>C (p.Met934Leu)
c.2716A>C (p.Met906Leu)
12g.2593239A>GCA383372122CACNA1Cc.2632A>G (p.Met878Val)
c.2557A>G (p.Met853Val)
c.1049A>G
c.2647A>G (p.Met883Val)
c.2548A>G (p.Met850Val)
c.2722A>G (p.Met908Val)
c.*1164A>G (n.*1164A>G)
c.*2177A>G (n.*2177A>G)
c.392A>G
c.2080A>G (p.Met694Val)
c.1717A>G (p.Met573Val)
c.1162A>G (p.Met388Val)
c.2920A>G (p.Met974Val)
c.2725A>G (p.Met909Val)
c.2800A>G (p.Met934Val)
c.2716A>G (p.Met906Val)
 ClinVar dbSNP
12g.2593239A>TCA383372123CACNA1Cc.2632A>T (p.Met878Leu)
c.2557A>T (p.Met853Leu)
c.1049A>T
c.2647A>T (p.Met883Leu)
c.2548A>T (p.Met850Leu)
c.2722A>T (p.Met908Leu)
c.*1164A>T (n.*1164A>T)
c.*2177A>T (n.*2177A>T)
c.392A>T
c.2080A>T (p.Met694Leu)
c.1717A>T (p.Met573Leu)
c.1162A>T (p.Met388Leu)
c.2920A>T (p.Met974Leu)
c.2725A>T (p.Met909Leu)
c.2800A>T (p.Met934Leu)
c.2716A>T (p.Met906Leu)
12g.2593240T>ACA383372126CACNA1Cc.2633T>A (p.Met878Lys)
c.2558T>A (p.Met853Lys)
c.1050T>A
c.2648T>A (p.Met883Lys)
c.2549T>A (p.Met850Lys)
c.2723T>A (p.Met908Lys)
c.*1165T>A (n.*1165T>A)
c.*2178T>A (n.*2178T>A)
c.393T>A
c.2081T>A (p.Met694Lys)
c.1718T>A (p.Met573Lys)
c.1163T>A (p.Met388Lys)
c.2921T>A (p.Met974Lys)
c.2726T>A (p.Met909Lys)
c.2801T>A (p.Met934Lys)
c.2717T>A (p.Met906Lys)
 gnomAD v4
12g.2593240T>CCA383372124CACNA1Cc.2633T>C (p.Met878Thr)
c.2558T>C (p.Met853Thr)
c.1050T>C
c.2648T>C (p.Met883Thr)
c.2549T>C (p.Met850Thr)
c.2723T>C (p.Met908Thr)
c.*1165T>C (n.*1165T>C)
c.*2178T>C (n.*2178T>C)
c.393T>C
c.2081T>C (p.Met694Thr)
c.1718T>C (p.Met573Thr)
c.1163T>C (p.Met388Thr)
c.2921T>C (p.Met974Thr)
c.2726T>C (p.Met909Thr)
c.2801T>C (p.Met934Thr)
c.2717T>C (p.Met906Thr)
 ClinVar gnomAD v4
12g.2593240T>GCA383372125CACNA1Cc.2633T>G (p.Met878Arg)
c.2558T>G (p.Met853Arg)
c.1050T>G
c.2648T>G (p.Met883Arg)
c.2549T>G (p.Met850Arg)
c.2723T>G (p.Met908Arg)
c.*1165T>G (n.*1165T>G)
c.*2178T>G (n.*2178T>G)
c.393T>G
c.2081T>G (p.Met694Arg)
c.1718T>G (p.Met573Arg)
c.1163T>G (p.Met388Arg)
c.2921T>G (p.Met974Arg)
c.2726T>G (p.Met909Arg)
c.2801T>G (p.Met934Arg)
c.2717T>G (p.Met906Arg)
12g.2593241G>ACA383372127CACNA1Cc.2634G>A (p.Met878Ile)
c.2559G>A (p.Met853Ile)
c.1051G>A
c.2649G>A (p.Met883Ile)
c.2550G>A (p.Met850Ile)
c.2724G>A (p.Met908Ile)
c.*1166G>A (n.*1166G>A)
c.*2179G>A (n.*2179G>A)
c.394G>A
c.2082G>A (p.Met694Ile)
c.1719G>A (p.Met573Ile)
c.1164G>A (p.Met388Ile)
c.2922G>A (p.Met974Ile)
c.2727G>A (p.Met909Ile)
c.2802G>A (p.Met934Ile)
c.2718G>A (p.Met906Ile)
 ClinVar dbSNP
12g.2593241G>CCA383372128CACNA1Cc.2634G>C (p.Met878Ile)
c.2559G>C (p.Met853Ile)
c.1051G>C
c.2649G>C (p.Met883Ile)
c.2550G>C (p.Met850Ile)
c.2724G>C (p.Met908Ile)
c.*1166G>C (n.*1166G>C)
c.*2179G>C (n.*2179G>C)
c.394G>C
c.2082G>C (p.Met694Ile)
c.1719G>C (p.Met573Ile)
c.1164G>C (p.Met388Ile)
c.2922G>C (p.Met974Ile)
c.2727G>C (p.Met909Ile)
c.2802G>C (p.Met934Ile)
c.2718G>C (p.Met906Ile)
12g.2593241G=CA2012308916CACNA1Cc.2634G= (p.Met878=)
c.2559G= (p.Met853=)
c.1051G=
c.2649G= (p.Met883=)
c.2550G= (p.Met850=)
c.2724G= (p.Met908=)
c.*1166G= (n.*1166G=)
c.*2179G= (n.*2179G=)
c.394G=
c.2082G= (p.Met694=)
c.1719G= (p.Met573=)
c.1164G= (p.Met388=)
c.2922G= (p.Met974=)
c.2727G= (p.Met909=)
c.2802G= (p.Met934=)
c.2718G= (p.Met906=)
12g.2593241G>TCA383372129CACNA1Cc.2634G>T (p.Met878Ile)
c.2559G>T (p.Met853Ile)
c.1051G>T
c.2649G>T (p.Met883Ile)
c.2550G>T (p.Met850Ile)
c.2724G>T (p.Met908Ile)
c.*1166G>T (n.*1166G>T)
c.*2179G>T (n.*2179G>T)
c.394G>T
c.2082G>T (p.Met694Ile)
c.1719G>T (p.Met573Ile)
c.1164G>T (p.Met388Ile)
c.2922G>T (p.Met974Ile)
c.2727G>T (p.Met909Ile)
c.2802G>T (p.Met934Ile)
c.2718G>T (p.Met906Ile)
12g.2593242C>ACA383372130CACNA1Cc.2635C>A (p.Pro879Thr)
c.2560C>A (p.Pro854Thr)
c.1052C>A
c.2650C>A (p.Pro884Thr)
c.2551C>A (p.Pro851Thr)
c.2725C>A (p.Pro909Thr)
c.*1167C>A (n.*1167C>A)
c.*2180C>A (n.*2180C>A)
c.395C>A
c.2083C>A (p.Pro695Thr)
c.1720C>A (p.Pro574Thr)
c.1165C>A (p.Pro389Thr)
c.2923C>A (p.Pro975Thr)
c.2728C>A (p.Pro910Thr)
c.2803C>A (p.Pro935Thr)
c.2719C>A (p.Pro907Thr)
12g.2593242C>GCA383372131CACNA1Cc.2635C>G (p.Pro879Ala)
c.2560C>G (p.Pro854Ala)
c.1052C>G
c.2650C>G (p.Pro884Ala)
c.2551C>G (p.Pro851Ala)
c.2725C>G (p.Pro909Ala)
c.*1167C>G (n.*1167C>G)
c.*2180C>G (n.*2180C>G)
c.395C>G
c.2083C>G (p.Pro695Ala)
c.1720C>G (p.Pro574Ala)
c.1165C>G (p.Pro389Ala)
c.2923C>G (p.Pro975Ala)
c.2728C>G (p.Pro910Ala)
c.2803C>G (p.Pro935Ala)
c.2719C>G (p.Pro907Ala)
12g.2593242C>TCA383372132CACNA1Cc.2635C>T (p.Pro879Ser)
c.2560C>T (p.Pro854Ser)
c.1052C>T
c.2650C>T (p.Pro884Ser)
c.2551C>T (p.Pro851Ser)
c.2725C>T (p.Pro909Ser)
c.*1167C>T (n.*1167C>T)
c.*2180C>T (n.*2180C>T)
c.395C>T
c.2083C>T (p.Pro695Ser)
c.1720C>T (p.Pro574Ser)
c.1165C>T (p.Pro389Ser)
c.2923C>T (p.Pro975Ser)
c.2728C>T (p.Pro910Ser)
c.2803C>T (p.Pro935Ser)
c.2719C>T (p.Pro907Ser)
12g.2593243C>ACA383372134CACNA1Cc.2636C>A (p.Pro879His)
c.2561C>A (p.Pro854His)
c.1053C>A
c.2651C>A (p.Pro884His)
c.2552C>A (p.Pro851His)
c.2726C>A (p.Pro909His)
c.*1168C>A (n.*1168C>A)
c.*2181C>A (n.*2181C>A)
c.396C>A
c.2084C>A (p.Pro695His)
c.1721C>A (p.Pro574His)
c.1166C>A (p.Pro389His)
c.2924C>A (p.Pro975His)
c.2729C>A (p.Pro910His)
c.2804C>A (p.Pro935His)
c.2720C>A (p.Pro907His)
12g.2593243C>GCA383372135CACNA1Cc.2636C>G (p.Pro879Arg)
c.2561C>G (p.Pro854Arg)
c.1053C>G
c.2651C>G (p.Pro884Arg)
c.2552C>G (p.Pro851Arg)
c.2726C>G (p.Pro909Arg)
c.*1168C>G (n.*1168C>G)
c.*2181C>G (n.*2181C>G)
c.396C>G
c.2084C>G (p.Pro695Arg)
c.1721C>G (p.Pro574Arg)
c.1166C>G (p.Pro389Arg)
c.2924C>G (p.Pro975Arg)
c.2729C>G (p.Pro910Arg)
c.2804C>G (p.Pro935Arg)
c.2720C>G (p.Pro907Arg)
12g.2593243C>TCA383372133CACNA1Cc.2636C>T (p.Pro879Leu)
c.2561C>T (p.Pro854Leu)
c.1053C>T
c.2651C>T (p.Pro884Leu)
c.2552C>T (p.Pro851Leu)
c.2726C>T (p.Pro909Leu)
c.*1168C>T (n.*1168C>T)
c.*2181C>T (n.*2181C>T)
c.396C>T
c.2084C>T (p.Pro695Leu)
c.1721C>T (p.Pro574Leu)
c.1166C>T (p.Pro389Leu)
c.2924C>T (p.Pro975Leu)
c.2729C>T (p.Pro910Leu)
c.2804C>T (p.Pro935Leu)
c.2720C>T (p.Pro907Leu)
12g.2593244T>ACA477886691CACNA1Cc.2637T>A (p.Pro879=)
c.2562T>A (p.Pro854=)
c.1054T>A
c.2652T>A (p.Pro884=)
c.2553T>A (p.Pro851=)
c.2727T>A (p.Pro909=)
c.*1169T>A (n.*1169T>A)
c.*2182T>A (n.*2182T>A)
c.397T>A
c.2085T>A (p.Pro695=)
c.1722T>A (p.Pro574=)
c.1167T>A (p.Pro389=)
c.2925T>A (p.Pro975=)
c.2730T>A (p.Pro910=)
c.2805T>A (p.Pro935=)
c.2721T>A (p.Pro907=)
12g.2593244T>CCA477886685CACNA1Cc.2637T>C (p.Pro879=)
c.2562T>C (p.Pro854=)
c.1054T>C
c.2652T>C (p.Pro884=)
c.2553T>C (p.Pro851=)
c.2727T>C (p.Pro909=)
c.*1169T>C (n.*1169T>C)
c.*2182T>C (n.*2182T>C)
c.397T>C
c.2085T>C (p.Pro695=)
c.1722T>C (p.Pro574=)
c.1167T>C (p.Pro389=)
c.2925T>C (p.Pro975=)
c.2730T>C (p.Pro910=)
c.2805T>C (p.Pro935=)
c.2721T>C (p.Pro907=)
12g.2593244T>GCA477886688CACNA1Cc.2637T>G (p.Pro879=)
c.2562T>G (p.Pro854=)
c.1054T>G
c.2652T>G (p.Pro884=)
c.2553T>G (p.Pro851=)
c.2727T>G (p.Pro909=)
c.*1169T>G (n.*1169T>G)
c.*2182T>G (n.*2182T>G)
c.397T>G
c.2085T>G (p.Pro695=)
c.1722T>G (p.Pro574=)
c.1167T>G (p.Pro389=)
c.2925T>G (p.Pro975=)
c.2730T>G (p.Pro910=)
c.2805T>G (p.Pro935=)
c.2721T>G (p.Pro907=)
12g.2593245G>ACA231594283CACNA1Cc.2638G>A (p.Val880Ile)
c.2563G>A (p.Val855Ile)
c.1055G>A
c.2653G>A (p.Val885Ile)
c.2554G>A (p.Val852Ile)
c.2728G>A (p.Val910Ile)
c.*1170G>A (n.*1170G>A)
c.*2183G>A (n.*2183G>A)
c.398G>A
c.2086G>A (p.Val696Ile)
c.1723G>A (p.Val575Ile)
c.1168G>A (p.Val390Ile)
c.2926G>A (p.Val976Ile)
c.2731G>A (p.Val911Ile)
c.2806G>A (p.Val936Ile)
c.2722G>A (p.Val908Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.2593245G>CCA383372136CACNA1Cc.2638G>C (p.Val880Leu)
c.2563G>C (p.Val855Leu)
c.1055G>C
c.2653G>C (p.Val885Leu)
c.2554G>C (p.Val852Leu)
c.2728G>C (p.Val910Leu)
c.*1170G>C (n.*1170G>C)
c.*2183G>C (n.*2183G>C)
c.398G>C
c.2086G>C (p.Val696Leu)
c.1723G>C (p.Val575Leu)
c.1168G>C (p.Val390Leu)
c.2926G>C (p.Val976Leu)
c.2731G>C (p.Val911Leu)
c.2806G>C (p.Val936Leu)
c.2722G>C (p.Val908Leu)
12g.2593245G=CA2012308917CACNA1Cc.2638G= (p.Val880=)
c.2563G= (p.Val855=)
c.1055G=
c.2653G= (p.Val885=)
c.2554G= (p.Val852=)
c.2728G= (p.Val910=)
c.*1170G= (n.*1170G=)
c.*2183G= (n.*2183G=)
c.398G=
c.2086G= (p.Val696=)
c.1723G= (p.Val575=)
c.1168G= (p.Val390=)
c.2926G= (p.Val976=)
c.2731G= (p.Val911=)
c.2806G= (p.Val936=)
c.2722G= (p.Val908=)
12g.2593245G>TCA383372137CACNA1Cc.2638G>T (p.Val880Phe)
c.2563G>T (p.Val855Phe)
c.1055G>T
c.2653G>T (p.Val885Phe)
c.2554G>T (p.Val852Phe)
c.2728G>T (p.Val910Phe)
c.*1170G>T (n.*1170G>T)
c.*2183G>T (n.*2183G>T)
c.398G>T
c.2086G>T (p.Val696Phe)
c.1723G>T (p.Val575Phe)
c.1168G>T (p.Val390Phe)
c.2926G>T (p.Val976Phe)
c.2731G>T (p.Val911Phe)
c.2806G>T (p.Val936Phe)
c.2722G>T (p.Val908Phe)
12g.2593246T>ACA383372138CACNA1Cc.2639T>A (p.Val880Asp)
c.2564T>A (p.Val855Asp)
c.1056T>A
c.2654T>A (p.Val885Asp)
c.2555T>A (p.Val852Asp)
c.2729T>A (p.Val910Asp)
c.*1171T>A (n.*1171T>A)
c.*2184T>A (n.*2184T>A)
c.399T>A
c.2087T>A (p.Val696Asp)
c.1724T>A (p.Val575Asp)
c.1169T>A (p.Val390Asp)
c.2927T>A (p.Val976Asp)
c.2732T>A (p.Val911Asp)
c.2807T>A (p.Val936Asp)
c.2723T>A (p.Val908Asp)
12g.2593246T>CCA383372140CACNA1Cc.2639T>C (p.Val880Ala)
c.2564T>C (p.Val855Ala)
c.1056T>C
c.2654T>C (p.Val885Ala)
c.2555T>C (p.Val852Ala)
c.2729T>C (p.Val910Ala)
c.*1171T>C (n.*1171T>C)
c.*2184T>C (n.*2184T>C)
c.399T>C
c.2087T>C (p.Val696Ala)
c.1724T>C (p.Val575Ala)
c.1169T>C (p.Val390Ala)
c.2927T>C (p.Val976Ala)
c.2732T>C (p.Val911Ala)
c.2807T>C (p.Val936Ala)
c.2723T>C (p.Val908Ala)
 gnomAD v4
12g.2593246T>GCA383372139CACNA1Cc.2639T>G (p.Val880Gly)
c.2564T>G (p.Val855Gly)
c.1056T>G
c.2654T>G (p.Val885Gly)
c.2555T>G (p.Val852Gly)
c.2729T>G (p.Val910Gly)
c.*1171T>G (n.*1171T>G)
c.*2184T>G (n.*2184T>G)
c.399T>G
c.2087T>G (p.Val696Gly)
c.1724T>G (p.Val575Gly)
c.1169T>G (p.Val390Gly)
c.2927T>G (p.Val976Gly)
c.2732T>G (p.Val911Gly)
c.2807T>G (p.Val936Gly)
c.2723T>G (p.Val908Gly)
12g.2593247C>ACA477886707CACNA1Cc.2640C>A (p.Val880=)
c.2565C>A (p.Val855=)
c.1057C>A
c.2655C>A (p.Val885=)
c.2556C>A (p.Val852=)
c.2730C>A (p.Val910=)
c.*1172C>A (n.*1172C>A)
c.*2185C>A (n.*2185C>A)
c.400C>A
c.2088C>A (p.Val696=)
c.1725C>A (p.Val575=)
c.1170C>A (p.Val390=)
c.2928C>A (p.Val976=)
c.2733C>A (p.Val911=)
c.2808C>A (p.Val936=)
c.2724C>A (p.Val908=)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2593247C=CA2012308918CACNA1Cc.2640C= (p.Val880=)
c.2565C= (p.Val855=)
c.1057C=
c.2655C= (p.Val885=)
c.2556C= (p.Val852=)
c.2730C= (p.Val910=)
c.*1172C= (n.*1172C=)
c.*2185C= (n.*2185C=)
c.400C=
c.2088C= (p.Val696=)
c.1725C= (p.Val575=)
c.1170C= (p.Val390=)
c.2928C= (p.Val976=)
c.2733C= (p.Val911=)
c.2808C= (p.Val936=)
c.2724C= (p.Val908=)
12g.2593247C>GCA477886705CACNA1Cc.2640C>G (p.Val880=)
c.2565C>G (p.Val855=)
c.1057C>G
c.2655C>G (p.Val885=)
c.2556C>G (p.Val852=)
c.2730C>G (p.Val910=)
c.*1172C>G (n.*1172C>G)
c.*2185C>G (n.*2185C>G)
c.400C>G
c.2088C>G (p.Val696=)
c.1725C>G (p.Val575=)
c.1170C>G (p.Val390=)
c.2928C>G (p.Val976=)
c.2733C>G (p.Val911=)
c.2808C>G (p.Val936=)
c.2724C>G (p.Val908=)
12g.2593247C>TCA6389011CACNA1Cc.2640C>T (p.Val880=)
c.2565C>T (p.Val855=)
c.1057C>T
c.2655C>T (p.Val885=)
c.2556C>T (p.Val852=)
c.2730C>T (p.Val910=)
c.*1172C>T (n.*1172C>T)
c.*2185C>T (n.*2185C>T)
c.400C>T
c.2088C>T (p.Val696=)
c.1725C>T (p.Val575=)
c.1170C>T (p.Val390=)
c.2928C>T (p.Val976=)
c.2733C>T (p.Val911=)
c.2808C>T (p.Val936=)
c.2724C>T (p.Val908=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2593248G>ACA301388CACNA1Cc.2641G>A (p.Gly881Ser)
c.2566G>A (p.Gly856Ser)
c.1058G>A
c.2656G>A (p.Gly886Ser)
c.2557G>A (p.Gly853Ser)
c.2731G>A (p.Gly911Ser)
c.*1173G>A (n.*1173G>A)
c.*2186G>A (n.*2186G>A)
c.401G>A
c.2089G>A (p.Gly697Ser)
c.1726G>A (p.Gly576Ser)
c.1171G>A (p.Gly391Ser)
c.2929G>A (p.Gly977Ser)
c.2734G>A (p.Gly912Ser)
c.2809G>A (p.Gly937Ser)
c.2725G>A (p.Gly909Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2593248G>CCA383372141CACNA1Cc.2641G>C (p.Gly881Arg)
c.2566G>C (p.Gly856Arg)
c.1058G>C
c.2656G>C (p.Gly886Arg)
c.2557G>C (p.Gly853Arg)
c.2731G>C (p.Gly911Arg)
c.*1173G>C (n.*1173G>C)
c.*2186G>C (n.*2186G>C)
c.401G>C
c.2089G>C (p.Gly697Arg)
c.1726G>C (p.Gly576Arg)
c.1171G>C (p.Gly391Arg)
c.2929G>C (p.Gly977Arg)
c.2734G>C (p.Gly912Arg)
c.2809G>C (p.Gly937Arg)
c.2725G>C (p.Gly909Arg)
12g.2593248G=CA2012308919CACNA1Cc.2641G= (p.Gly881=)
c.2566G= (p.Gly856=)
c.1058G=
c.2656G= (p.Gly886=)
c.2557G= (p.Gly853=)
c.2731G= (p.Gly911=)
c.*1173G= (n.*1173G=)
c.*2186G= (n.*2186G=)
c.401G=
c.2089G= (p.Gly697=)
c.1726G= (p.Gly576=)
c.1171G= (p.Gly391=)
c.2929G= (p.Gly977=)
c.2734G= (p.Gly912=)
c.2809G= (p.Gly937=)
c.2725G= (p.Gly909=)
12g.2593248G>TCA383372142CACNA1Cc.2641G>T (p.Gly881Cys)
c.2566G>T (p.Gly856Cys)
c.1058G>T
c.2656G>T (p.Gly886Cys)
c.2557G>T (p.Gly853Cys)
c.2731G>T (p.Gly911Cys)
c.*1173G>T (n.*1173G>T)
c.*2186G>T (n.*2186G>T)
c.401G>T
c.2089G>T (p.Gly697Cys)
c.1726G>T (p.Gly576Cys)
c.1171G>T (p.Gly391Cys)
c.2929G>T (p.Gly977Cys)
c.2734G>T (p.Gly912Cys)
c.2809G>T (p.Gly937Cys)
c.2725G>T (p.Gly909Cys)
12g.2593249G>ACA383372143CACNA1Cc.2642G>A (p.Gly881Asp)
c.2567G>A (p.Gly856Asp)
c.1059G>A
c.2657G>A (p.Gly886Asp)
c.2558G>A (p.Gly853Asp)
c.2732G>A (p.Gly911Asp)
c.*1174G>A (n.*1174G>A)
c.*2187G>A (n.*2187G>A)
c.402G>A
c.2090G>A (p.Gly697Asp)
c.1727G>A (p.Gly576Asp)
c.1172G>A (p.Gly391Asp)
c.2930G>A (p.Gly977Asp)
c.2735G>A (p.Gly912Asp)
c.2810G>A (p.Gly937Asp)
c.2726G>A (p.Gly909Asp)
12g.2593249G>CCA383372144CACNA1Cc.2642G>C (p.Gly881Ala)
c.2567G>C (p.Gly856Ala)
c.1059G>C
c.2657G>C (p.Gly886Ala)
c.2558G>C (p.Gly853Ala)
c.2732G>C (p.Gly911Ala)
c.*1174G>C (n.*1174G>C)
c.*2187G>C (n.*2187G>C)
c.402G>C
c.2090G>C (p.Gly697Ala)
c.1727G>C (p.Gly576Ala)
c.1172G>C (p.Gly391Ala)
c.2930G>C (p.Gly977Ala)
c.2735G>C (p.Gly912Ala)
c.2810G>C (p.Gly937Ala)
c.2726G>C (p.Gly909Ala)
12g.2593249G>TCA383372145CACNA1Cc.2642G>T (p.Gly881Val)
c.2567G>T (p.Gly856Val)
c.1059G>T
c.2657G>T (p.Gly886Val)
c.2558G>T (p.Gly853Val)
c.2732G>T (p.Gly911Val)
c.*1174G>T (n.*1174G>T)
c.*2187G>T (n.*2187G>T)
c.402G>T
c.2090G>T (p.Gly697Val)
c.1727G>T (p.Gly576Val)
c.1172G>T (p.Gly391Val)
c.2930G>T (p.Gly977Val)
c.2735G>T (p.Gly912Val)
c.2810G>T (p.Gly937Val)
c.2726G>T (p.Gly909Val)
 gnomAD v4
12g.2593250C>ACA477886721CACNA1Cc.2643C>A (p.Gly881=)
c.2568C>A (p.Gly856=)
c.1060C>A
c.2658C>A (p.Gly886=)
c.2559C>A (p.Gly853=)
c.2733C>A (p.Gly911=)
c.*1175C>A (n.*1175C>A)
c.*2188C>A (n.*2188C>A)
c.403C>A
c.2091C>A (p.Gly697=)
c.1728C>A (p.Gly576=)
c.1173C>A (p.Gly391=)
c.2931C>A (p.Gly977=)
c.2736C>A (p.Gly912=)
c.2811C>A (p.Gly937=)
c.2727C>A (p.Gly909=)
12g.2593250C>GCA477886719CACNA1Cc.2643C>G (p.Gly881=)
c.2568C>G (p.Gly856=)
c.1060C>G
c.2658C>G (p.Gly886=)
c.2559C>G (p.Gly853=)
c.2733C>G (p.Gly911=)
c.*1175C>G (n.*1175C>G)
c.*2188C>G (n.*2188C>G)
c.403C>G
c.2091C>G (p.Gly697=)
c.1728C>G (p.Gly576=)
c.1173C>G (p.Gly391=)
c.2931C>G (p.Gly977=)
c.2736C>G (p.Gly912=)
c.2811C>G (p.Gly937=)
c.2727C>G (p.Gly909=)
12g.2593250C>TCA477886717CACNA1Cc.2643C>T (p.Gly881=)
c.2568C>T (p.Gly856=)
c.1060C>T
c.2658C>T (p.Gly886=)
c.2559C>T (p.Gly853=)
c.2733C>T (p.Gly911=)
c.*1175C>T (n.*1175C>T)
c.*2188C>T (n.*2188C>T)
c.403C>T
c.2091C>T (p.Gly697=)
c.1728C>T (p.Gly576=)
c.1173C>T (p.Gly391=)
c.2931C>T (p.Gly977=)
c.2736C>T (p.Gly912=)
c.2811C>T (p.Gly937=)
c.2727C>T (p.Gly909=)
12g.2593251C>ACA383372146CACNA1Cc.2644C>A (p.Pro882Thr)
c.2569C>A (p.Pro857Thr)
c.1061C>A
c.2659C>A (p.Pro887Thr)
c.2560C>A (p.Pro854Thr)
c.2734C>A (p.Pro912Thr)
c.*1176C>A (n.*1176C>A)
c.*2189C>A (n.*2189C>A)
c.404C>A
c.2092C>A (p.Pro698Thr)
c.1729C>A (p.Pro577Thr)
c.1174C>A (p.Pro392Thr)
c.2932C>A (p.Pro978Thr)
c.2737C>A (p.Pro913Thr)
c.2812C>A (p.Pro938Thr)
c.2728C>A (p.Pro910Thr)
12g.2593251C=CA2012308920CACNA1Cc.2644C= (p.Pro882=)
c.2569C= (p.Pro857=)
c.1061C=
c.2659C= (p.Pro887=)
c.2560C= (p.Pro854=)
c.2734C= (p.Pro912=)
c.*1176C= (n.*1176C=)
c.*2189C= (n.*2189C=)
c.404C=
c.2092C= (p.Pro698=)
c.1729C= (p.Pro577=)
c.1174C= (p.Pro392=)
c.2932C= (p.Pro978=)
c.2737C= (p.Pro913=)
c.2812C= (p.Pro938=)
c.2728C= (p.Pro910=)
12g.2593251C>GCA383372147CACNA1Cc.2644C>G (p.Pro882Ala)
c.2569C>G (p.Pro857Ala)
c.1061C>G
c.2659C>G (p.Pro887Ala)
c.2560C>G (p.Pro854Ala)
c.2734C>G (p.Pro912Ala)
c.*1176C>G (n.*1176C>G)
c.*2189C>G (n.*2189C>G)
c.404C>G
c.2092C>G (p.Pro698Ala)
c.1729C>G (p.Pro577Ala)
c.1174C>G (p.Pro392Ala)
c.2932C>G (p.Pro978Ala)
c.2737C>G (p.Pro913Ala)
c.2812C>G (p.Pro938Ala)
c.2728C>G (p.Pro910Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.2593251C>TCA383372148CACNA1Cc.2644C>T (p.Pro882Ser)
c.2569C>T (p.Pro857Ser)
c.1061C>T
c.2659C>T (p.Pro887Ser)
c.2560C>T (p.Pro854Ser)
c.2734C>T (p.Pro912Ser)
c.*1176C>T (n.*1176C>T)
c.*2189C>T (n.*2189C>T)
c.404C>T
c.2092C>T (p.Pro698Ser)
c.1729C>T (p.Pro577Ser)
c.1174C>T (p.Pro392Ser)
c.2932C>T (p.Pro978Ser)
c.2737C>T (p.Pro913Ser)
c.2812C>T (p.Pro938Ser)
c.2728C>T (p.Pro910Ser)
12g.2593252C>ACA383372149CACNA1Cc.2645C>A (p.Pro882His)
c.2570C>A (p.Pro857His)
c.1062C>A
c.2660C>A (p.Pro887His)
c.2561C>A (p.Pro854His)
c.2735C>A (p.Pro912His)
c.*1177C>A (n.*1177C>A)
c.*2190C>A (n.*2190C>A)
c.405C>A
c.2093C>A (p.Pro698His)
c.1730C>A (p.Pro577His)
c.1175C>A (p.Pro392His)
c.2933C>A (p.Pro978His)
c.2738C>A (p.Pro913His)
c.2813C>A (p.Pro938His)
c.2729C>A (p.Pro910His)
12g.2593252C=CA2012308921CACNA1Cc.2645C= (p.Pro882=)
c.2570C= (p.Pro857=)
c.1062C=
c.2660C= (p.Pro887=)
c.2561C= (p.Pro854=)
c.2735C= (p.Pro912=)
c.*1177C= (n.*1177C=)
c.*2190C= (n.*2190C=)
c.405C=
c.2093C= (p.Pro698=)
c.1730C= (p.Pro577=)
c.1175C= (p.Pro392=)
c.2933C= (p.Pro978=)
c.2738C= (p.Pro913=)
c.2813C= (p.Pro938=)
c.2729C= (p.Pro910=)
12g.2593252C>GCA6389012CACNA1Cc.2645C>G (p.Pro882Arg)
c.2570C>G (p.Pro857Arg)
c.1062C>G
c.2660C>G (p.Pro887Arg)
c.2561C>G (p.Pro854Arg)
c.2735C>G (p.Pro912Arg)
c.*1177C>G (n.*1177C>G)
c.*2190C>G (n.*2190C>G)
c.405C>G
c.2093C>G (p.Pro698Arg)
c.1730C>G (p.Pro577Arg)
c.1175C>G (p.Pro392Arg)
c.2933C>G (p.Pro978Arg)
c.2738C>G (p.Pro913Arg)
c.2813C>G (p.Pro938Arg)
c.2729C>G (p.Pro910Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.2593252C>TCA353931CACNA1Cc.2645C>T (p.Pro882Leu)
c.2570C>T (p.Pro857Leu)
c.1062C>T
c.2660C>T (p.Pro887Leu)
c.2561C>T (p.Pro854Leu)
c.2735C>T (p.Pro912Leu)
c.*1177C>T (n.*1177C>T)
c.*2190C>T (n.*2190C>T)
c.405C>T
c.2093C>T (p.Pro698Leu)
c.1730C>T (p.Pro577Leu)
c.1175C>T (p.Pro392Leu)
c.2933C>T (p.Pro978Leu)
c.2738C>T (p.Pro913Leu)
c.2813C>T (p.Pro938Leu)
c.2729C>T (p.Pro910Leu)
 ClinVar dbSNP
12g.2593253T>ACA477886739CACNA1Cc.2646T>A (p.Pro882=)
c.2571T>A (p.Pro857=)
c.1063T>A
c.2661T>A (p.Pro887=)
c.2562T>A (p.Pro854=)
c.2736T>A (p.Pro912=)
c.*1178T>A (n.*1178T>A)
c.*2191T>A (n.*2191T>A)
c.406T>A
c.2094T>A (p.Pro698=)
c.1731T>A (p.Pro577=)
c.1176T>A (p.Pro392=)
c.2934T>A (p.Pro978=)
c.2739T>A (p.Pro913=)
c.2814T>A (p.Pro938=)
c.2730T>A (p.Pro910=)
12g.2593253T>CCA477886741CACNA1Cc.2646T>C (p.Pro882=)
c.2571T>C (p.Pro857=)
c.1063T>C
c.2661T>C (p.Pro887=)
c.2562T>C (p.Pro854=)
c.2736T>C (p.Pro912=)
c.*1178T>C (n.*1178T>C)
c.*2191T>C (n.*2191T>C)
c.406T>C
c.2094T>C (p.Pro698=)
c.1731T>C (p.Pro577=)
c.1176T>C (p.Pro392=)
c.2934T>C (p.Pro978=)
c.2739T>C (p.Pro913=)
c.2814T>C (p.Pro938=)
c.2730T>C (p.Pro910=)
 ClinVar dbSNP
12g.2593253T>GCA477886737CACNA1Cc.2646T>G (p.Pro882=)
c.2571T>G (p.Pro857=)
c.1063T>G
c.2661T>G (p.Pro887=)
c.2562T>G (p.Pro854=)
c.2736T>G (p.Pro912=)
c.*1178T>G (n.*1178T>G)
c.*2191T>G (n.*2191T>G)
c.406T>G
c.2094T>G (p.Pro698=)
c.1731T>G (p.Pro577=)
c.1176T>G (p.Pro392=)
c.2934T>G (p.Pro978=)
c.2739T>G (p.Pro913=)
c.2814T>G (p.Pro938=)
c.2730T>G (p.Pro910=)
12g.2593254C>ACA383372152CACNA1Cc.2647C>A (p.Arg883Ser)
c.2572C>A (p.Arg858Ser)
c.1064C>A
c.2662C>A (p.Arg888Ser)
c.2563C>A (p.Arg855Ser)
c.2737C>A (p.Arg913Ser)
c.*1179C>A (n.*1179C>A)
c.*2192C>A (n.*2192C>A)
c.407C>A
c.2095C>A (p.Arg699Ser)
c.1732C>A (p.Arg578Ser)
c.1177C>A (p.Arg393Ser)
c.2935C>A (p.Arg979Ser)
c.2740C>A (p.Arg914Ser)
c.2815C>A (p.Arg939Ser)
c.2731C>A (p.Arg911Ser)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2593254C=CA2012308922CACNA1Cc.2647C= (p.Arg883=)
c.2572C= (p.Arg858=)
c.1064C=
c.2662C= (p.Arg888=)
c.2563C= (p.Arg855=)
c.2737C= (p.Arg913=)
c.*1179C= (n.*1179C=)
c.*2192C= (n.*2192C=)
c.407C=
c.2095C= (p.Arg699=)
c.1732C= (p.Arg578=)
c.1177C= (p.Arg393=)
c.2935C= (p.Arg979=)
c.2740C= (p.Arg914=)
c.2815C= (p.Arg939=)
c.2731C= (p.Arg911=)
12g.2593254C>GCA383372151CACNA1Cc.2647C>G (p.Arg883Gly)
c.2572C>G (p.Arg858Gly)
c.1064C>G
c.2662C>G (p.Arg888Gly)
c.2563C>G (p.Arg855Gly)
c.2737C>G (p.Arg913Gly)
c.*1179C>G (n.*1179C>G)
c.*2192C>G (n.*2192C>G)
c.407C>G
c.2095C>G (p.Arg699Gly)
c.1732C>G (p.Arg578Gly)
c.1177C>G (p.Arg393Gly)
c.2935C>G (p.Arg979Gly)
c.2740C>G (p.Arg914Gly)
c.2815C>G (p.Arg939Gly)
c.2731C>G (p.Arg911Gly)
 gnomAD v4
12g.2593254C>TCA383372150CACNA1Cc.2647C>T (p.Arg883Cys)
c.2572C>T (p.Arg858Cys)
c.1064C>T
c.2662C>T (p.Arg888Cys)
c.2563C>T (p.Arg855Cys)
c.2737C>T (p.Arg913Cys)
c.*1179C>T (n.*1179C>T)
c.*2192C>T (n.*2192C>T)
c.407C>T
c.2095C>T (p.Arg699Cys)
c.1732C>T (p.Arg578Cys)
c.1177C>T (p.Arg393Cys)
c.2935C>T (p.Arg979Cys)
c.2740C>T (p.Arg914Cys)
c.2815C>T (p.Arg939Cys)
c.2731C>T (p.Arg911Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2593256_2593261delCA2580085114CACNA1Cc.2649_2654del (p.Pro884_Arg885del)
c.2574_2579del (p.Pro859_Arg860del)
c.1066_1071del
c.2664_2669del (p.Pro889_Arg890del)
c.2565_2570del (p.Pro856_Arg857del)
c.2739_2744del (p.Pro914_Arg915del)
c.*1181_*1186del (n.*1181_*1186del)
c.*2194_*2199del (n.*2194_*2199del)
c.409_414del
c.2097_2102del (p.Pro700_Arg701del)
c.1734_1739del (p.Pro579_Arg580del)
c.1179_1184del (p.Pro394_Arg395del)
c.2937_2942del (p.Pro980_Arg981del)
c.2742_2747del (p.Pro915_Arg916del)
c.2817_2822del (p.Pro940_Arg941del)
c.2733_2738del (p.Pro912_Arg913del)
 ClinVar
12g.2593255G>ACA301396CACNA1Cc.2648G>A (p.Arg883His)
c.2573G>A (p.Arg858His)
c.1065G>A
c.2663G>A (p.Arg888His)
c.2564G>A (p.Arg855His)
c.2738G>A (p.Arg913His)
c.*1180G>A (n.*1180G>A)
c.*2193G>A (n.*2193G>A)
c.408G>A
c.2096G>A (p.Arg699His)
c.1733G>A (p.Arg578His)
c.1178G>A (p.Arg393His)
c.2936G>A (p.Arg979His)
c.2741G>A (p.Arg914His)
c.2816G>A (p.Arg939His)
c.2732G>A (p.Arg911His)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2593255G>CCA383372153CACNA1Cc.2648G>C (p.Arg883Pro)
c.2573G>C (p.Arg858Pro)
c.1065G>C
c.2663G>C (p.Arg888Pro)
c.2564G>C (p.Arg855Pro)
c.2738G>C (p.Arg913Pro)
c.*1180G>C (n.*1180G>C)
c.*2193G>C (n.*2193G>C)
c.408G>C
c.2096G>C (p.Arg699Pro)
c.1733G>C (p.Arg578Pro)
c.1178G>C (p.Arg393Pro)
c.2936G>C (p.Arg979Pro)
c.2741G>C (p.Arg914Pro)
c.2816G>C (p.Arg939Pro)
c.2732G>C (p.Arg911Pro)
12g.2593255G=CA2012308923CACNA1Cc.2648G= (p.Arg883=)
c.2573G= (p.Arg858=)
c.1065G=
c.2663G= (p.Arg888=)
c.2564G= (p.Arg855=)
c.2738G= (p.Arg913=)
c.*1180G= (n.*1180G=)
c.*2193G= (n.*2193G=)
c.408G=
c.2096G= (p.Arg699=)
c.1733G= (p.Arg578=)
c.1178G= (p.Arg393=)
c.2936G= (p.Arg979=)
c.2741G= (p.Arg914=)
c.2816G= (p.Arg939=)
c.2732G= (p.Arg911=)
12g.2593255G>TCA383372154CACNA1Cc.2648G>T (p.Arg883Leu)
c.2573G>T (p.Arg858Leu)
c.1065G>T
c.2663G>T (p.Arg888Leu)
c.2564G>T (p.Arg855Leu)
c.2738G>T (p.Arg913Leu)
c.*1180G>T (n.*1180G>T)
c.*2193G>T (n.*2193G>T)
c.408G>T
c.2096G>T (p.Arg699Leu)
c.1733G>T (p.Arg578Leu)
c.1178G>T (p.Arg393Leu)
c.2936G>T (p.Arg979Leu)
c.2741G>T (p.Arg914Leu)
c.2816G>T (p.Arg939Leu)
c.2732G>T (p.Arg911Leu)
 ClinVar gnomAD v4
12g.2593256C>ACA477886760CACNA1Cc.2649C>A (p.Arg883=)
c.2574C>A (p.Arg858=)
c.1066C>A
c.2664C>A (p.Arg888=)
c.2565C>A (p.Arg855=)
c.2739C>A (p.Arg913=)
c.*1181C>A (n.*1181C>A)
c.*2194C>A (n.*2194C>A)
c.409C>A
c.2097C>A (p.Arg699=)
c.1734C>A (p.Arg578=)
c.1179C>A (p.Arg393=)
c.2937C>A (p.Arg979=)
c.2742C>A (p.Arg914=)
c.2817C>A (p.Arg939=)
c.2733C>A (p.Arg911=)
12g.2593256C>GCA477886769CACNA1Cc.2649C>G (p.Arg883=)
c.2574C>G (p.Arg858=)
c.1066C>G
c.2664C>G (p.Arg888=)
c.2565C>G (p.Arg855=)
c.2739C>G (p.Arg913=)
c.*1181C>G (n.*1181C>G)
c.*2194C>G (n.*2194C>G)
c.409C>G
c.2097C>G (p.Arg699=)
c.1734C>G (p.Arg578=)
c.1179C>G (p.Arg393=)
c.2937C>G (p.Arg979=)
c.2742C>G (p.Arg914=)
c.2817C>G (p.Arg939=)
c.2733C>G (p.Arg911=)
12g.2593256C>TCA477886773CACNA1Cc.2649C>T (p.Arg883=)
c.2574C>T (p.Arg858=)
c.1066C>T
c.2664C>T (p.Arg888=)
c.2565C>T (p.Arg855=)
c.2739C>T (p.Arg913=)
c.*1181C>T (n.*1181C>T)
c.*2194C>T (n.*2194C>T)
c.409C>T
c.2097C>T (p.Arg699=)
c.1734C>T (p.Arg578=)
c.1179C>T (p.Arg393=)
c.2937C>T (p.Arg979=)
c.2742C>T (p.Arg914=)
c.2817C>T (p.Arg939=)
c.2733C>T (p.Arg911=)
 gnomAD v4
12g.2593257C>ACA383372155CACNA1Cc.2650C>A (p.Pro884Thr)
c.2575C>A (p.Pro859Thr)
c.1067C>A
c.2665C>A (p.Pro889Thr)
c.2566C>A (p.Pro856Thr)
c.2740C>A (p.Pro914Thr)
c.*1182C>A (n.*1182C>A)
c.*2195C>A (n.*2195C>A)
c.410C>A
c.2098C>A (p.Pro700Thr)
c.1735C>A (p.Pro579Thr)
c.1180C>A (p.Pro394Thr)
c.2938C>A (p.Pro980Thr)
c.2743C>A (p.Pro915Thr)
c.2818C>A (p.Pro940Thr)
c.2734C>A (p.Pro912Thr)
12g.2593257C>GCA383372156CACNA1Cc.2650C>G (p.Pro884Ala)
c.2575C>G (p.Pro859Ala)
c.1067C>G
c.2665C>G (p.Pro889Ala)
c.2566C>G (p.Pro856Ala)
c.2740C>G (p.Pro914Ala)
c.*1182C>G (n.*1182C>G)
c.*2195C>G (n.*2195C>G)
c.410C>G
c.2098C>G (p.Pro700Ala)
c.1735C>G (p.Pro579Ala)
c.1180C>G (p.Pro394Ala)
c.2938C>G (p.Pro980Ala)
c.2743C>G (p.Pro915Ala)
c.2818C>G (p.Pro940Ala)
c.2734C>G (p.Pro912Ala)
12g.2593257C>TCA383372157CACNA1Cc.2650C>T (p.Pro884Ser)
c.2575C>T (p.Pro859Ser)
c.1067C>T
c.2665C>T (p.Pro889Ser)
c.2566C>T (p.Pro856Ser)
c.2740C>T (p.Pro914Ser)
c.*1182C>T (n.*1182C>T)
c.*2195C>T (n.*2195C>T)
c.410C>T
c.2098C>T (p.Pro700Ser)
c.1735C>T (p.Pro579Ser)
c.1180C>T (p.Pro394Ser)
c.2938C>T (p.Pro980Ser)
c.2743C>T (p.Pro915Ser)
c.2818C>T (p.Pro940Ser)
c.2734C>T (p.Pro912Ser)
 ClinVar dbSNP
12g.2593258C>ACA383372158CACNA1Cc.2651C>A (p.Pro884Gln)
c.2576C>A (p.Pro859Gln)
c.1068C>A
c.2666C>A (p.Pro889Gln)
c.2567C>A (p.Pro856Gln)
c.2741C>A (p.Pro914Gln)
c.*1183C>A (n.*1183C>A)
c.*2196C>A (n.*2196C>A)
c.411C>A
c.2099C>A (p.Pro700Gln)
c.1736C>A (p.Pro579Gln)
c.1181C>A (p.Pro394Gln)
c.2939C>A (p.Pro980Gln)
c.2744C>A (p.Pro915Gln)
c.2819C>A (p.Pro940Gln)
c.2735C>A (p.Pro912Gln)
12g.2593258C>GCA383372159CACNA1Cc.2651C>G (p.Pro884Arg)
c.2576C>G (p.Pro859Arg)
c.1068C>G
c.2666C>G (p.Pro889Arg)
c.2567C>G (p.Pro856Arg)
c.2741C>G (p.Pro914Arg)
c.*1183C>G (n.*1183C>G)
c.*2196C>G (n.*2196C>G)
c.411C>G
c.2099C>G (p.Pro700Arg)
c.1736C>G (p.Pro579Arg)
c.1181C>G (p.Pro394Arg)
c.2939C>G (p.Pro980Arg)
c.2744C>G (p.Pro915Arg)
c.2819C>G (p.Pro940Arg)
c.2735C>G (p.Pro912Arg)
12g.2593258C>TCA383372160CACNA1Cc.2651C>T (p.Pro884Leu)
c.2576C>T (p.Pro859Leu)
c.1068C>T
c.2666C>T (p.Pro889Leu)
c.2567C>T (p.Pro856Leu)
c.2741C>T (p.Pro914Leu)
c.*1183C>T (n.*1183C>T)
c.*2196C>T (n.*2196C>T)
c.411C>T
c.2099C>T (p.Pro700Leu)
c.1736C>T (p.Pro579Leu)
c.1181C>T (p.Pro394Leu)
c.2939C>T (p.Pro980Leu)
c.2744C>T (p.Pro915Leu)
c.2819C>T (p.Pro940Leu)
c.2735C>T (p.Pro912Leu)
12g.2593259A>CCA477886790CACNA1Cc.2652A>C (p.Pro884=)
c.2577A>C (p.Pro859=)
c.1069A>C
c.2667A>C (p.Pro889=)
c.2568A>C (p.Pro856=)
c.2742A>C (p.Pro914=)
c.*1184A>C (n.*1184A>C)
c.*2197A>C (n.*2197A>C)
c.412A>C
c.2100A>C (p.Pro700=)
c.1737A>C (p.Pro579=)
c.1182A>C (p.Pro394=)
c.2940A>C (p.Pro980=)
c.2745A>C (p.Pro915=)
c.2820A>C (p.Pro940=)
c.2736A>C (p.Pro912=)
12g.2593259A>GCA477886785CACNA1Cc.2652A>G (p.Pro884=)
c.2577A>G (p.Pro859=)
c.1069A>G
c.2667A>G (p.Pro889=)
c.2568A>G (p.Pro856=)
c.2742A>G (p.Pro914=)
c.*1184A>G (n.*1184A>G)
c.*2197A>G (n.*2197A>G)
c.412A>G
c.2100A>G (p.Pro700=)
c.1737A>G (p.Pro579=)
c.1182A>G (p.Pro394=)
c.2940A>G (p.Pro980=)
c.2745A>G (p.Pro915=)
c.2820A>G (p.Pro940=)
c.2736A>G (p.Pro912=)
12g.2593259A>TCA477886788CACNA1Cc.2652A>T (p.Pro884=)
c.2577A>T (p.Pro859=)
c.1069A>T
c.2667A>T (p.Pro889=)
c.2568A>T (p.Pro856=)
c.2742A>T (p.Pro914=)
c.*1184A>T (n.*1184A>T)
c.*2197A>T (n.*2197A>T)
c.412A>T
c.2100A>T (p.Pro700=)
c.1737A>T (p.Pro579=)
c.1182A>T (p.Pro394=)
c.2940A>T (p.Pro980=)
c.2745A>T (p.Pro915=)
c.2820A>T (p.Pro940=)
c.2736A>T (p.Pro912=)
12g.2593260C>ACA477886796CACNA1Cc.2653C>A (p.Arg885=)
c.2578C>A (p.Arg860=)
c.1070C>A
c.2668C>A (p.Arg890=)
c.2569C>A (p.Arg857=)
c.2743C>A (p.Arg915=)
c.*1185C>A (n.*1185C>A)
c.*2198C>A (n.*2198C>A)
c.413C>A
c.2101C>A (p.Arg701=)
c.1738C>A (p.Arg580=)
c.1183C>A (p.Arg395=)
c.2941C>A (p.Arg981=)
c.2746C>A (p.Arg916=)
c.2821C>A (p.Arg941=)
c.2737C>A (p.Arg913=)
12g.2593260C=CA2012308924CACNA1Cc.2653C= (p.Arg885=)
c.2578C= (p.Arg860=)
c.1070C=
c.2668C= (p.Arg890=)
c.2569C= (p.Arg857=)
c.2743C= (p.Arg915=)
c.*1185C= (n.*1185C=)
c.*2198C= (n.*2198C=)
c.413C=
c.2101C= (p.Arg701=)
c.1738C= (p.Arg580=)
c.1183C= (p.Arg395=)
c.2941C= (p.Arg981=)
c.2746C= (p.Arg916=)
c.2821C= (p.Arg941=)
c.2737C= (p.Arg913=)
12g.2593260C>GCA301743CACNA1Cc.2653C>G (p.Arg885Gly)
c.2578C>G (p.Arg860Gly)
c.1070C>G
c.2668C>G (p.Arg890Gly)
c.2569C>G (p.Arg857Gly)
c.2743C>G (p.Arg915Gly)
c.*1185C>G (n.*1185C>G)
c.*2198C>G (n.*2198C>G)
c.413C>G
c.2101C>G (p.Arg701Gly)
c.1738C>G (p.Arg580Gly)
c.1183C>G (p.Arg395Gly)
c.2941C>G (p.Arg981Gly)
c.2746C>G (p.Arg916Gly)
c.2821C>G (p.Arg941Gly)
c.2737C>G (p.Arg913Gly)
 ClinVar dbSNP gnomAD v4
12g.2593260C>TCA6389013CACNA1Cc.2653C>T (p.Arg885Ter)
c.2578C>T (p.Arg860Ter)
c.1070C>T
c.2668C>T (p.Arg890Ter)
c.2569C>T (p.Arg857Ter)
c.2743C>T (p.Arg915Ter)
c.*1185C>T (n.*1185C>T)
c.*2198C>T (n.*2198C>T)
c.413C>T
c.2101C>T (p.Arg701Ter)
c.1738C>T (p.Arg580Ter)
c.1183C>T (p.Arg395Ter)
c.2941C>T (p.Arg981Ter)
c.2746C>T (p.Arg916Ter)
c.2821C>T (p.Arg941Ter)
c.2737C>T (p.Arg913Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC

Number of alleles fetched