Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.49217755_49221080delCA916084263CACNA1Fc.2290_3089+1del
c.2128_2927+1del
c.2323_3122+1del
Xg.49217925G>ACA516377416CACNA1Fc.3009C>T (p.Phe1003=)
c.2847C>T (p.Phe949=)
c.3042C>T (p.Phe1014=)
c.276C>T (p.Phe92=)
 gnomAD v4 COSMIC
Xg.49217925G>CCA412964377CACNA1Fc.3009C>G (p.Phe1003Leu)
c.2847C>G (p.Phe949Leu)
c.3042C>G (p.Phe1014Leu)
c.276C>G (p.Phe92Leu)
Xg.49217925G>TCA412964378CACNA1Fc.3009C>A (p.Phe1003Leu)
c.2847C>A (p.Phe949Leu)
c.3042C>A (p.Phe1014Leu)
c.276C>A (p.Phe92Leu)
Xg.49217926A>CCA412964379CACNA1Fc.3008T>G (p.Phe1003Cys)
c.2846T>G (p.Phe949Cys)
c.3041T>G (p.Phe1014Cys)
c.275T>G (p.Phe92Cys)
Xg.49217926A>GCA412964380CACNA1Fc.3008T>C (p.Phe1003Ser)
c.2846T>C (p.Phe949Ser)
c.3041T>C (p.Phe1014Ser)
c.275T>C (p.Phe92Ser)
Xg.49217926A>TCA412964381CACNA1Fc.3008T>A (p.Phe1003Tyr)
c.2846T>A (p.Phe949Tyr)
c.3041T>A (p.Phe1014Tyr)
c.275T>A (p.Phe92Tyr)
Xg.49217927A>CCA412964382CACNA1Fc.3007T>G (p.Phe1003Val)
c.2845T>G (p.Phe949Val)
c.3040T>G (p.Phe1014Val)
c.274T>G (p.Phe92Val)
Xg.49217927A>GCA412964383CACNA1Fc.3007T>C (p.Phe1003Leu)
c.2845T>C (p.Phe949Leu)
c.3040T>C (p.Phe1014Leu)
c.274T>C (p.Phe92Leu)
Xg.49217927A>TCA412964384CACNA1Fc.3007T>A (p.Phe1003Ile)
c.2845T>A (p.Phe949Ile)
c.3040T>A (p.Phe1014Ile)
c.274T>A (p.Phe92Ile)
Xg.49217928C>ACA412964386CACNA1Fc.3006G>T (p.Met1002Ile)
c.2844G>T (p.Met948Ile)
c.3039G>T (p.Met1013Ile)
c.273G>T (p.Met91Ile)
Xg.49217928C>GCA412964387CACNA1Fc.3006G>C (p.Met1002Ile)
c.2844G>C (p.Met948Ile)
c.3039G>C (p.Met1013Ile)
c.273G>C (p.Met91Ile)
Xg.49217928C>TCA412964385CACNA1Fc.3006G>A (p.Met1002Ile)
c.2844G>A (p.Met948Ile)
c.3039G>A (p.Met1013Ile)
c.273G>A (p.Met91Ile)
Xg.49217929A>CCA412964388CACNA1Fc.3005T>G (p.Met1002Arg)
c.2843T>G (p.Met948Arg)
c.3038T>G (p.Met1013Arg)
c.272T>G (p.Met91Arg)
Xg.49217929A>GCA412964390CACNA1Fc.3005T>C (p.Met1002Thr)
c.2843T>C (p.Met948Thr)
c.3038T>C (p.Met1013Thr)
c.272T>C (p.Met91Thr)
Xg.49217929A>TCA412964389CACNA1Fc.3005T>A (p.Met1002Lys)
c.2843T>A (p.Met948Lys)
c.3038T>A (p.Met1013Lys)
c.272T>A (p.Met91Lys)
 dbSNP
Xg.49217930T>ACA412964391CACNA1Fc.3004A>T (p.Met1002Leu)
c.2842A>T (p.Met948Leu)
c.3037A>T (p.Met1013Leu)
c.271A>T (p.Met91Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.49217930T>CCA412964392CACNA1Fc.3004A>G (p.Met1002Val)
c.2842A>G (p.Met948Val)
c.3037A>G (p.Met1013Val)
c.271A>G (p.Met91Val)
Xg.49217930T>GCA412964393CACNA1Fc.3004A>C (p.Met1002Leu)
c.2842A>C (p.Met948Leu)
c.3037A>C (p.Met1013Leu)
c.271A>C (p.Met91Leu)
Xg.49217930T=CA2428540224CACNA1Fc.3004A= (p.Met1002=)
c.2842A= (p.Met948=)
c.3037A= (p.Met1013=)
c.271A= (p.Met91=)
Xg.49217931A>CCA412964394CACNA1Fc.3003T>G (p.Phe1001Leu)
c.2841T>G (p.Phe947Leu)
c.3036T>G (p.Phe1012Leu)
c.270T>G (p.Phe90Leu)
Xg.49217931A>GCA516377417CACNA1Fc.3003T>C (p.Phe1001=)
c.2841T>C (p.Phe947=)
c.3036T>C (p.Phe1012=)
c.270T>C (p.Phe90=)
Xg.49217931A>TCA412964395CACNA1Fc.3003T>A (p.Phe1001Leu)
c.2841T>A (p.Phe947Leu)
c.3036T>A (p.Phe1012Leu)
c.270T>A (p.Phe90Leu)
Xg.49217932A=CA2428540225CACNA1Fc.3002T= (p.Phe1001=)
c.2840T= (p.Phe947=)
c.3035T= (p.Phe1012=)
c.269T= (p.Phe90=)
Xg.49217932A>CCA412964396CACNA1Fc.3002T>G (p.Phe1001Cys)
c.2840T>G (p.Phe947Cys)
c.3035T>G (p.Phe1012Cys)
c.269T>G (p.Phe90Cys)
 dbSNP gnomAD v3 gnomAD v4
Xg.49217932A>GCA412964397CACNA1Fc.3002T>C (p.Phe1001Ser)
c.2840T>C (p.Phe947Ser)
c.3035T>C (p.Phe1012Ser)
c.269T>C (p.Phe90Ser)
Xg.49217932A>TCA412964398CACNA1Fc.3002T>A (p.Phe1001Tyr)
c.2840T>A (p.Phe947Tyr)
c.3035T>A (p.Phe1012Tyr)
c.269T>A (p.Phe90Tyr)
Xg.49217933A>CCA412964399CACNA1Fc.3001T>G (p.Phe1001Val)
c.2839T>G (p.Phe947Val)
c.3034T>G (p.Phe1012Val)
c.268T>G (p.Phe90Val)
Xg.49217933A>GCA412964400CACNA1Fc.3001T>C (p.Phe1001Leu)
c.2839T>C (p.Phe947Leu)
c.3034T>C (p.Phe1012Leu)
c.268T>C (p.Phe90Leu)
Xg.49217933A>TCA412964401CACNA1Fc.3001T>A (p.Phe1001Ile)
c.2839T>A (p.Phe947Ile)
c.3034T>A (p.Phe1012Ile)
c.268T>A (p.Phe90Ile)
Xg.49217934T>ACA412964403CACNA1Fc.3000A>T (p.Gln1000His)
c.2838A>T (p.Gln946His)
c.3033A>T (p.Gln1011His)
c.267A>T (p.Gln89His)
Xg.49217934T>CCA516377418CACNA1Fc.3000A>G (p.Gln1000=)
c.2838A>G (p.Gln946=)
c.3033A>G (p.Gln1011=)
c.267A>G (p.Gln89=)
 dbSNP gnomAD v2 gnomAD v4
Xg.49217934T>GCA412964402CACNA1Fc.3000A>C (p.Gln1000His)
c.2838A>C (p.Gln946His)
c.3033A>C (p.Gln1011His)
c.267A>C (p.Gln89His)
Xg.49217934T=CA2428540226CACNA1Fc.3000A= (p.Gln1000=)
c.2838A= (p.Gln946=)
c.3033A= (p.Gln1011=)
c.267A= (p.Gln89=)
Xg.49217935T>ACA412964404CACNA1Fc.2999A>T (p.Gln1000Leu)
c.2837A>T (p.Gln946Leu)
c.3032A>T (p.Gln1011Leu)
c.266A>T (p.Gln89Leu)
Xg.49217935T>CCA412964405CACNA1Fc.2999A>G (p.Gln1000Arg)
c.2837A>G (p.Gln946Arg)
c.3032A>G (p.Gln1011Arg)
c.266A>G (p.Gln89Arg)
Xg.49217935T>GCA412964406CACNA1Fc.2999A>C (p.Gln1000Pro)
c.2837A>C (p.Gln946Pro)
c.3032A>C (p.Gln1011Pro)
c.266A>C (p.Gln89Pro)
Xg.49217936G>ACA412964407CACNA1Fc.2998C>T (p.Gln1000Ter)
c.2836C>T (p.Gln946Ter)
c.3031C>T (p.Gln1011Ter)
c.265C>T (p.Gln89Ter)
 ClinVar
Xg.49217936G>CCA412964408CACNA1Fc.2998C>G (p.Gln1000Glu)
c.2836C>G (p.Gln946Glu)
c.3031C>G (p.Gln1011Glu)
c.265C>G (p.Gln89Glu)
Xg.49217936G>TCA412964409CACNA1Fc.2998C>A (p.Gln1000Lys)
c.2836C>A (p.Gln946Lys)
c.3031C>A (p.Gln1011Lys)
c.265C>A (p.Gln89Lys)
 dbSNP
Xg.49217937C>ACA516377421CACNA1Fc.2997G>T (p.Leu999=)
c.2835G>T (p.Leu945=)
c.3030G>T (p.Leu1010=)
c.264G>T (p.Leu88=)
Xg.49217937C>GCA516377420CACNA1Fc.2997G>C (p.Leu999=)
c.2835G>C (p.Leu945=)
c.3030G>C (p.Leu1010=)
c.264G>C (p.Leu88=)
Xg.49217937C>TCA516377419CACNA1Fc.2997G>A (p.Leu999=)
c.2835G>A (p.Leu945=)
c.3030G>A (p.Leu1010=)
c.264G>A (p.Leu88=)
Xg.49217938A>CCA412964410CACNA1Fc.2996T>G (p.Leu999Arg)
c.2834T>G (p.Leu945Arg)
c.3029T>G (p.Leu1010Arg)
c.263T>G (p.Leu88Arg)
Xg.49217938A>GCA412964411CACNA1Fc.2996T>C (p.Leu999Pro)
c.2834T>C (p.Leu945Pro)
c.3029T>C (p.Leu1010Pro)
c.263T>C (p.Leu88Pro)
Xg.49217938A>TCA412964412CACNA1Fc.2996T>A (p.Leu999Gln)
c.2834T>A (p.Leu945Gln)
c.3029T>A (p.Leu1010Gln)
c.263T>A (p.Leu88Gln)
Xg.49217939G>ACA516377422CACNA1Fc.2995C>T (p.Leu999=)
c.2833C>T (p.Leu945=)
c.3028C>T (p.Leu1010=)
c.262C>T (p.Leu88=)
Xg.49217939G>CCA412964413CACNA1Fc.2995C>G (p.Leu999Val)
c.2833C>G (p.Leu945Val)
c.3028C>G (p.Leu1010Val)
c.262C>G (p.Leu88Val)
Xg.49217939G>TCA412964414CACNA1Fc.2995C>A (p.Leu999Met)
c.2833C>A (p.Leu945Met)
c.3028C>A (p.Leu1010Met)
c.262C>A (p.Leu88Met)
Xg.49217940A=CA2428540227CACNA1Fc.2994T= (p.Leu998=)
c.2832T= (p.Leu944=)
c.3027T= (p.Leu1009=)
c.261T= (p.Leu87=)
Xg.49217940A>CCA329140774CACNA1Fc.2994T>G (p.Leu998=)
c.2832T>G (p.Leu944=)
c.3027T>G (p.Leu1009=)
c.261T>G (p.Leu87=)
 dbSNP
Xg.49217940A>GCA516377423CACNA1Fc.2994T>C (p.Leu998=)
c.2832T>C (p.Leu944=)
c.3027T>C (p.Leu1009=)
c.261T>C (p.Leu87=)
Xg.49217940A>TCA516377424CACNA1Fc.2994T>A (p.Leu998=)
c.2832T>A (p.Leu944=)
c.3027T>A (p.Leu1009=)
c.261T>A (p.Leu87=)
Xg.49217941A>CCA412964416CACNA1Fc.2993T>G (p.Leu998Arg)
c.2831T>G (p.Leu944Arg)
c.3026T>G (p.Leu1009Arg)
c.260T>G (p.Leu87Arg)
Xg.49217941A>GCA412964417CACNA1Fc.2993T>C (p.Leu998Pro)
c.2831T>C (p.Leu944Pro)
c.3026T>C (p.Leu1009Pro)
c.260T>C (p.Leu87Pro)
Xg.49217941A>TCA412964415CACNA1Fc.2993T>A (p.Leu998His)
c.2831T>A (p.Leu944His)
c.3026T>A (p.Leu1009His)
c.260T>A (p.Leu87His)
Xg.49217942G>ACA412964418CACNA1Fc.2992C>T (p.Leu998Phe)
c.2830C>T (p.Leu944Phe)
c.3025C>T (p.Leu1009Phe)
c.259C>T (p.Leu87Phe)
 gnomAD v4
Xg.49217942G>CCA412964419CACNA1Fc.2992C>G (p.Leu998Val)
c.2830C>G (p.Leu944Val)
c.3025C>G (p.Leu1009Val)
c.259C>G (p.Leu87Val)
Xg.49217942G>TCA412964420CACNA1Fc.2992C>A (p.Leu998Ile)
c.2830C>A (p.Leu944Ile)
c.3025C>A (p.Leu1009Ile)
c.259C>A (p.Leu87Ile)
Xg.49217943T>ACA516377425CACNA1Fc.2991A>T (p.Thr997=)
c.2829A>T (p.Thr943=)
c.3024A>T (p.Thr1008=)
c.258A>T (p.Thr86=)
Xg.49217943T>CCA516377426CACNA1Fc.2991A>G (p.Thr997=)
c.2829A>G (p.Thr943=)
c.3024A>G (p.Thr1008=)
c.258A>G (p.Thr86=)
Xg.49217943T>GCA516377427CACNA1Fc.2991A>C (p.Thr997=)
c.2829A>C (p.Thr943=)
c.3024A>C (p.Thr1008=)
c.258A>C (p.Thr86=)
 gnomAD v4
Xg.49217944G>ACA412964421CACNA1Fc.2990C>T (p.Thr997Ile)
c.2828C>T (p.Thr943Ile)
c.3023C>T (p.Thr1008Ile)
c.257C>T (p.Thr86Ile)
Xg.49217944G>CCA412964422CACNA1Fc.2990C>G (p.Thr997Arg)
c.2828C>G (p.Thr943Arg)
c.3023C>G (p.Thr1008Arg)
c.257C>G (p.Thr86Arg)
Xg.49217944G>TCA412964423CACNA1Fc.2990C>A (p.Thr997Lys)
c.2828C>A (p.Thr943Lys)
c.3023C>A (p.Thr1008Lys)
c.257C>A (p.Thr86Lys)
Xg.49217947_49217949delCA2693707735CACNA1Fc.2988_2990del (p.Thr997del)
c.2826_2828del (p.Thr943del)
c.3021_3023del (p.Thr1008del)
c.255_257del (p.Thr86del)
 gnomAD v4
Xg.49217945T>ACA412964424CACNA1Fc.2989A>T (p.Thr997Ser)
c.2827A>T (p.Thr943Ser)
c.3022A>T (p.Thr1008Ser)
c.256A>T (p.Thr86Ser)
Xg.49217945T>CCA412964425CACNA1Fc.2989A>G (p.Thr997Ala)
c.2827A>G (p.Thr943Ala)
c.3022A>G (p.Thr1008Ala)
c.256A>G (p.Thr86Ala)
Xg.49217945T>GCA412964426CACNA1Fc.2989A>C (p.Thr997Pro)
c.2827A>C (p.Thr943Pro)
c.3022A>C (p.Thr1008Pro)
c.256A>C (p.Thr86Pro)
Xg.49217946G>ACA516377428CACNA1Fc.2988C>T (p.Thr996=)
c.2826C>T (p.Thr942=)
c.3021C>T (p.Thr1007=)
c.255C>T (p.Thr85=)
Xg.49217946G>CCA516377429CACNA1Fc.2988C>G (p.Thr996=)
c.2826C>G (p.Thr942=)
c.3021C>G (p.Thr1007=)
c.255C>G (p.Thr85=)
Xg.49217946G>TCA516377430CACNA1Fc.2988C>A (p.Thr996=)
c.2826C>A (p.Thr942=)
c.3021C>A (p.Thr1007=)
c.255C>A (p.Thr85=)
Xg.49217947G>ACA412964427CACNA1Fc.2987C>T (p.Thr996Ile)
c.2825C>T (p.Thr942Ile)
c.3020C>T (p.Thr1007Ile)
c.254C>T (p.Thr85Ile)
 dbSNP
Xg.49217947G>CCA412964428CACNA1Fc.2987C>G (p.Thr996Ser)
c.2825C>G (p.Thr942Ser)
c.3020C>G (p.Thr1007Ser)
c.254C>G (p.Thr85Ser)
Xg.49217947G>TCA412964429CACNA1Fc.2987C>A (p.Thr996Asn)
c.2825C>A (p.Thr942Asn)
c.3020C>A (p.Thr1007Asn)
c.254C>A (p.Thr85Asn)
 gnomAD v4
Xg.49217948T>ACA412964431CACNA1Fc.2986A>T (p.Thr996Ser)
c.2824A>T (p.Thr942Ser)
c.3019A>T (p.Thr1007Ser)
c.253A>T (p.Thr85Ser)
Xg.49217948T>CCA10410562CACNA1Fc.2986A>G (p.Thr996Ala)
c.2824A>G (p.Thr942Ala)
c.3019A>G (p.Thr1007Ala)
c.253A>G (p.Thr85Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49217948T>GCA412964430CACNA1Fc.2986A>C (p.Thr996Pro)
c.2824A>C (p.Thr942Pro)
c.3019A>C (p.Thr1007Pro)
c.253A>C (p.Thr85Pro)
Xg.49217948T=CA2428540228CACNA1Fc.2986A= (p.Thr996=)
c.2824A= (p.Thr942=)
c.3019A= (p.Thr1007=)
c.253A= (p.Thr85=)
Xg.49217949G>ACA516377431CACNA1Fc.2985C>T (p.Val995=)
c.2823C>T (p.Val941=)
c.3018C>T (p.Val1006=)
c.252C>T (p.Val84=)
Xg.49217949G>CCA516377432CACNA1Fc.2985C>G (p.Val995=)
c.2823C>G (p.Val941=)
c.3018C>G (p.Val1006=)
c.252C>G (p.Val84=)
Xg.49217949G>TCA516377433CACNA1Fc.2985C>A (p.Val995=)
c.2823C>A (p.Val941=)
c.3018C>A (p.Val1006=)
c.252C>A (p.Val84=)
Xg.49217950A>CCA412964432CACNA1Fc.2984T>G (p.Val995Gly)
c.2822T>G (p.Val941Gly)
c.3017T>G (p.Val1006Gly)
c.251T>G (p.Val84Gly)
Xg.49217950A>GCA412964433CACNA1Fc.2984T>C (p.Val995Ala)
c.2822T>C (p.Val941Ala)
c.3017T>C (p.Val1006Ala)
c.251T>C (p.Val84Ala)
Xg.49217950A>TCA412964434CACNA1Fc.2984T>A (p.Val995Asp)
c.2822T>A (p.Val941Asp)
c.3017T>A (p.Val1006Asp)
c.251T>A (p.Val84Asp)
Xg.49217951C>ACA412964435CACNA1Fc.2983G>T (p.Val995Phe)
c.2821G>T (p.Val941Phe)
c.3016G>T (p.Val1006Phe)
c.250G>T (p.Val84Phe)
Xg.49217951C>GCA412964436CACNA1Fc.2983G>C (p.Val995Leu)
c.2821G>C (p.Val941Leu)
c.3016G>C (p.Val1006Leu)
c.250G>C (p.Val84Leu)
Xg.49217951C>TCA412964437CACNA1Fc.2983G>A (p.Val995Ile)
c.2821G>A (p.Val941Ile)
c.3016G>A (p.Val1006Ile)
c.250G>A (p.Val84Ile)
Xg.49217952A>CCA412964438CACNA1Fc.2982T>G (p.Ile994Met)
c.2820T>G (p.Ile940Met)
c.3015T>G (p.Ile1005Met)
c.249T>G (p.Ile83Met)
Xg.49217952A>GCA516377434CACNA1Fc.2982T>C (p.Ile994=)
c.2820T>C (p.Ile940=)
c.3015T>C (p.Ile1005=)
c.249T>C (p.Ile83=)
 ClinVar dbSNP
Xg.49217952A>TCA516377435CACNA1Fc.2982T>A (p.Ile994=)
c.2820T>A (p.Ile940=)
c.3015T>A (p.Ile1005=)
c.249T>A (p.Ile83=)
Xg.49217953A>CCA412964439CACNA1Fc.2981T>G (p.Ile994Ser)
c.2819T>G (p.Ile940Ser)
c.3014T>G (p.Ile1005Ser)
c.248T>G (p.Ile83Ser)
Xg.49217953A>GCA412964440CACNA1Fc.2981T>C (p.Ile994Thr)
c.2819T>C (p.Ile940Thr)
c.3014T>C (p.Ile1005Thr)
c.248T>C (p.Ile83Thr)
Xg.49217953A>TCA412964441CACNA1Fc.2981T>A (p.Ile994Asn)
c.2819T>A (p.Ile940Asn)
c.3014T>A (p.Ile1005Asn)
c.248T>A (p.Ile83Asn)
Xg.49217954T>ACA412964442CACNA1Fc.2980A>T (p.Ile994Phe)
c.2818A>T (p.Ile940Phe)
c.3013A>T (p.Ile1005Phe)
c.247A>T (p.Ile83Phe)
Xg.49217954T>CCA412964443CACNA1Fc.2980A>G (p.Ile994Val)
c.2818A>G (p.Ile940Val)
c.3013A>G (p.Ile1005Val)
c.247A>G (p.Ile83Val)
 dbSNP gnomAD v3 gnomAD v4
Xg.49217954T>GCA412964444CACNA1Fc.2980A>C (p.Ile994Leu)
c.2818A>C (p.Ile940Leu)
c.3013A>C (p.Ile1005Leu)
c.247A>C (p.Ile83Leu)
Xg.49217954T=CA2428540229CACNA1Fc.2980A= (p.Ile994=)
c.2818A= (p.Ile940=)
c.3013A= (p.Ile1005=)
c.247A= (p.Ile83=)
Xg.49217955C>ACA412964446CACNA1Fc.2979G>T (p.Met993Ile)
c.2817G>T (p.Met939Ile)
c.3012G>T (p.Met1004Ile)
c.246G>T (p.Met82Ile)
Xg.49217955C>GCA412964447CACNA1Fc.2979G>C (p.Met993Ile)
c.2817G>C (p.Met939Ile)
c.3012G>C (p.Met1004Ile)
c.246G>C (p.Met82Ile)
Xg.49217955C>TCA412964445CACNA1Fc.2979G>A (p.Met993Ile)
c.2817G>A (p.Met939Ile)
c.3012G>A (p.Met1004Ile)
c.246G>A (p.Met82Ile)
 gnomAD v4
Xg.49217956A>CCA412964449CACNA1Fc.2978T>G (p.Met993Arg)
c.2816T>G (p.Met939Arg)
c.3011T>G (p.Met1004Arg)
c.245T>G (p.Met82Arg)
Xg.49217956A>GCA412964448CACNA1Fc.2978T>C (p.Met993Thr)
c.2816T>C (p.Met939Thr)
c.3011T>C (p.Met1004Thr)
c.245T>C (p.Met82Thr)
Xg.49217956A>TCA412964450CACNA1Fc.2978T>A (p.Met993Lys)
c.2816T>A (p.Met939Lys)
c.3011T>A (p.Met1004Lys)
c.245T>A (p.Met82Lys)
Xg.49217959_49217961delCA2695233571CACNA1Fc.2976_2978del (p.Ile992del)
c.2814_2816del (p.Ile938del)
c.3009_3011del (p.Ile1003del)
c.243_245del (p.Ile81del)
Xg.49217957T>ACA412964451CACNA1Fc.2977A>T (p.Met993Leu)
c.2815A>T (p.Met939Leu)
c.3010A>T (p.Met1004Leu)
c.244A>T (p.Met82Leu)
Xg.49217957T>CCA412964452CACNA1Fc.2977A>G (p.Met993Val)
c.2815A>G (p.Met939Val)
c.3010A>G (p.Met1004Val)
c.244A>G (p.Met82Val)
 gnomAD v4
Xg.49217957T>GCA412964453CACNA1Fc.2977A>C (p.Met993Leu)
c.2815A>C (p.Met939Leu)
c.3010A>C (p.Met1004Leu)
c.244A>C (p.Met82Leu)
Xg.49217958G>ACA516377436CACNA1Fc.2976C>T (p.Ile992=)
c.2814C>T (p.Ile938=)
c.3009C>T (p.Ile1003=)
c.243C>T (p.Ile81=)
 ClinVar
Xg.49217958G>CCA412964454CACNA1Fc.2976C>G (p.Ile992Met)
c.2814C>G (p.Ile938Met)
c.3009C>G (p.Ile1003Met)
c.243C>G (p.Ile81Met)
Xg.49217958G>TCA516377437CACNA1Fc.2976C>A (p.Ile992=)
c.2814C>A (p.Ile938=)
c.3009C>A (p.Ile1003=)
c.243C>A (p.Ile81=)
Xg.49217959A>CCA412964455CACNA1Fc.2975T>G (p.Ile992Ser)
c.2813T>G (p.Ile938Ser)
c.3008T>G (p.Ile1003Ser)
c.242T>G (p.Ile81Ser)
Xg.49217959A>GCA412964456CACNA1Fc.2975T>C (p.Ile992Thr)
c.2813T>C (p.Ile938Thr)
c.3008T>C (p.Ile1003Thr)
c.242T>C (p.Ile81Thr)
Xg.49217959A>TCA412964457CACNA1Fc.2975T>A (p.Ile992Asn)
c.2813T>A (p.Ile938Asn)
c.3008T>A (p.Ile1003Asn)
c.242T>A (p.Ile81Asn)
Xg.49217960T>ACA412964458CACNA1Fc.2974A>T (p.Ile992Phe)
c.2812A>T (p.Ile938Phe)
c.3007A>T (p.Ile1003Phe)
c.241A>T (p.Ile81Phe)
Xg.49217960T>CCA412964459CACNA1Fc.2974A>G (p.Ile992Val)
c.2812A>G (p.Ile938Val)
c.3007A>G (p.Ile1003Val)
c.241A>G (p.Ile81Val)
Xg.49217960T>GCA412964460CACNA1Fc.2974A>C (p.Ile992Leu)
c.2812A>C (p.Ile938Leu)
c.3007A>C (p.Ile1003Leu)
c.241A>C (p.Ile81Leu)
Xg.49217961G>ACA516377438CACNA1Fc.2973C>T (p.Asn991=)
c.2811C>T (p.Asn937=)
c.3006C>T (p.Asn1002=)
c.240C>T (p.Asn80=)
 dbSNP gnomAD v3 gnomAD v4
Xg.49217961G>CCA412964461CACNA1Fc.2973C>G (p.Asn991Lys)
c.2811C>G (p.Asn937Lys)
c.3006C>G (p.Asn1002Lys)
c.240C>G (p.Asn80Lys)
Xg.49217961G=CA2428540230CACNA1Fc.2973C= (p.Asn991=)
c.2811C= (p.Asn937=)
c.3006C= (p.Asn1002=)
c.240C= (p.Asn80=)
Xg.49217961G>TCA412964462CACNA1Fc.2973C>A (p.Asn991Lys)
c.2811C>A (p.Asn937Lys)
c.3006C>A (p.Asn1002Lys)
c.240C>A (p.Asn80Lys)
Xg.49217962T>ACA412964464CACNA1Fc.2972A>T (p.Asn991Ile)
c.2810A>T (p.Asn937Ile)
c.3005A>T (p.Asn1002Ile)
c.239A>T (p.Asn80Ile)
 COSMIC
Xg.49217962T>CCA10410563CACNA1Fc.2972A>G (p.Asn991Ser)
c.2810A>G (p.Asn937Ser)
c.3005A>G (p.Asn1002Ser)
c.239A>G (p.Asn80Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49217962T>GCA412964463CACNA1Fc.2972A>C (p.Asn991Thr)
c.2810A>C (p.Asn937Thr)
c.3005A>C (p.Asn1002Thr)
c.239A>C (p.Asn80Thr)
Xg.49217962T=CA2428540231CACNA1Fc.2972A= (p.Asn991=)
c.2810A= (p.Asn937=)
c.3005A= (p.Asn1002=)
c.239A= (p.Asn80=)
Xg.49217963T>ACA412964465CACNA1Fc.2971A>T (p.Asn991Tyr)
c.2809A>T (p.Asn937Tyr)
c.3004A>T (p.Asn1002Tyr)
c.238A>T (p.Asn80Tyr)
Xg.49217963T>CCA412964466CACNA1Fc.2971A>G (p.Asn991Asp)
c.2809A>G (p.Asn937Asp)
c.3004A>G (p.Asn1002Asp)
c.238A>G (p.Asn80Asp)
Xg.49217963T>GCA412964467CACNA1Fc.2971A>C (p.Asn991His)
c.2809A>C (p.Asn937His)
c.3004A>C (p.Asn1002His)
c.238A>C (p.Asn80His)
Xg.49217964T>ACA516377439CACNA1Fc.2970A>T (p.Gly990=)
c.2808A>T (p.Gly936=)
c.3003A>T (p.Gly1001=)
c.237A>T (p.Gly79=)
Xg.49217964T>CCA516377440CACNA1Fc.2970A>G (p.Gly990=)
c.2808A>G (p.Gly936=)
c.3003A>G (p.Gly1001=)
c.237A>G (p.Gly79=)
Xg.49217964T>GCA516377441CACNA1Fc.2970A>C (p.Gly990=)
c.2808A>C (p.Gly936=)
c.3003A>C (p.Gly1001=)
c.237A>C (p.Gly79=)
Xg.49217965C>ACA412964468CACNA1Fc.2969G>T (p.Gly990Val)
c.2807G>T (p.Gly936Val)
c.3002G>T (p.Gly1001Val)
c.236G>T (p.Gly79Val)
Xg.49217965C>GCA412964469CACNA1Fc.2969G>C (p.Gly990Ala)
c.2807G>C (p.Gly936Ala)
c.3002G>C (p.Gly1001Ala)
c.236G>C (p.Gly79Ala)
Xg.49217965C>TCA412964470CACNA1Fc.2969G>A (p.Gly990Glu)
c.2807G>A (p.Gly936Glu)
c.3002G>A (p.Gly1001Glu)
c.236G>A (p.Gly79Glu)
Xg.49217966C>ACA412964471CACNA1Fc.2968G>T (p.Gly990Ter)
c.2806G>T (p.Gly936Ter)
c.3001G>T (p.Gly1001Ter)
c.235G>T (p.Gly79Ter)
Xg.49217966C=CA2428540232CACNA1Fc.2968G= (p.Gly990=)
c.2806G= (p.Gly936=)
c.3001G= (p.Gly1001=)
c.235G= (p.Gly79=)
Xg.49217966C>GCA412964472CACNA1Fc.2968G>C (p.Gly990Arg)
c.2806G>C (p.Gly936Arg)
c.3001G>C (p.Gly1001Arg)
c.235G>C (p.Gly79Arg)
 ClinVar dbSNP
Xg.49217966C>TCA10410564CACNA1Fc.2968G>A (p.Gly990Arg)
c.2806G>A (p.Gly936Arg)
c.3001G>A (p.Gly1001Arg)
c.235G>A (p.Gly79Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49217967G>ACA10410565CACNA1Fc.2967C>T (p.Ile989=)
c.2805C>T (p.Ile935=)
c.3000C>T (p.Ile1000=)
c.234C>T (p.Ile78=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49217967G>CCA329140788CACNA1Fc.2967C>G (p.Ile989Met)
c.2805C>G (p.Ile935Met)
c.3000C>G (p.Ile1000Met)
c.234C>G (p.Ile78Met)
 dbSNP gnomAD v3 gnomAD v4
Xg.49217967G=CA2428540233CACNA1Fc.2967C= (p.Ile989=)
c.2805C= (p.Ile935=)
c.3000C= (p.Ile1000=)
c.234C= (p.Ile78=)
Xg.49217967G>TCA516377442CACNA1Fc.2967C>A (p.Ile989=)
c.2805C>A (p.Ile935=)
c.3000C>A (p.Ile1000=)
c.234C>A (p.Ile78=)
Xg.49217968A>CCA412964474CACNA1Fc.2966T>G (p.Ile989Ser)
c.2804T>G (p.Ile935Ser)
c.2999T>G (p.Ile1000Ser)
c.233T>G (p.Ile78Ser)
 ClinVar
Xg.49217968A>GCA412964475CACNA1Fc.2966T>C (p.Ile989Thr)
c.2804T>C (p.Ile935Thr)
c.2999T>C (p.Ile1000Thr)
c.233T>C (p.Ile78Thr)
 gnomAD v4
Xg.49217968A>TCA412964473CACNA1Fc.2966T>A (p.Ile989Asn)
c.2804T>A (p.Ile935Asn)
c.2999T>A (p.Ile1000Asn)
c.233T>A (p.Ile78Asn)
Xg.49217969T>ACA412964476CACNA1Fc.2965A>T (p.Ile989Phe)
c.2803A>T (p.Ile935Phe)
c.2998A>T (p.Ile1000Phe)
c.232A>T (p.Ile78Phe)
Xg.49217969T>CCA412964477CACNA1Fc.2965A>G (p.Ile989Val)
c.2803A>G (p.Ile935Val)
c.2998A>G (p.Ile1000Val)
c.232A>G (p.Ile78Val)
 ClinVar
Xg.49217969T>GCA412964478CACNA1Fc.2965A>C (p.Ile989Leu)
c.2803A>C (p.Ile935Leu)
c.2998A>C (p.Ile1000Leu)
c.232A>C (p.Ile78Leu)
Xg.49217970G>ACA516377445CACNA1Fc.2964C>T (p.Thr988=)
c.2802C>T (p.Thr934=)
c.2997C>T (p.Thr999=)
c.231C>T (p.Thr77=)
Xg.49217970G>CCA516377443CACNA1Fc.2964C>G (p.Thr988=)
c.2802C>G (p.Thr934=)
c.2997C>G (p.Thr999=)
c.231C>G (p.Thr77=)
 gnomAD v4
Xg.49217970G>TCA516377444CACNA1Fc.2964C>A (p.Thr988=)
c.2802C>A (p.Thr934=)
c.2997C>A (p.Thr999=)
c.231C>A (p.Thr77=)
Xg.49217971G>ACA412964479CACNA1Fc.2963C>T (p.Thr988Ile)
c.2801C>T (p.Thr934Ile)
c.2996C>T (p.Thr999Ile)
c.230C>T (p.Thr77Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.49217971G>CCA412964480CACNA1Fc.2963C>G (p.Thr988Ser)
c.2801C>G (p.Thr934Ser)
c.2996C>G (p.Thr999Ser)
c.230C>G (p.Thr77Ser)
Xg.49217971G=CA2428540234CACNA1Fc.2963C= (p.Thr988=)
c.2801C= (p.Thr934=)
c.2996C= (p.Thr999=)
c.230C= (p.Thr77=)
Xg.49217971G>TCA412964481CACNA1Fc.2963C>A (p.Thr988Asn)
c.2801C>A (p.Thr934Asn)
c.2996C>A (p.Thr999Asn)
c.230C>A (p.Thr77Asn)
Xg.49217972T>ACA412964482CACNA1Fc.2962A>T (p.Thr988Ser)
c.2800A>T (p.Thr934Ser)
c.2995A>T (p.Thr999Ser)
c.229A>T (p.Thr77Ser)
Xg.49217972T>CCA412964483CACNA1Fc.2962A>G (p.Thr988Ala)
c.2800A>G (p.Thr934Ala)
c.2995A>G (p.Thr999Ala)
c.229A>G (p.Thr77Ala)
Xg.49217972T>GCA412964484CACNA1Fc.2962A>C (p.Thr988Pro)
c.2800A>C (p.Thr934Pro)
c.2995A>C (p.Thr999Pro)
c.229A>C (p.Thr77Pro)
Xg.49217973C>ACA516377446CACNA1Fc.2961G>T (p.Arg987=)
c.2799G>T (p.Arg933=)
c.2994G>T (p.Arg998=)
c.228G>T (p.Arg76=)
Xg.49217973C>GCA516377447CACNA1Fc.2961G>C (p.Arg987=)
c.2799G>C (p.Arg933=)
c.2994G>C (p.Arg998=)
c.228G>C (p.Arg76=)
 gnomAD v4
Xg.49217973C>TCA516377448CACNA1Fc.2961G>A (p.Arg987=)
c.2799G>A (p.Arg933=)
c.2994G>A (p.Arg998=)
c.228G>A (p.Arg76=)
Xg.49217974C>ACA412964485CACNA1Fc.2960G>T (p.Arg987Leu)
c.2798G>T (p.Arg933Leu)
c.2993G>T (p.Arg998Leu)
c.227G>T (p.Arg76Leu)
 gnomAD v4
Xg.49217974C=CA2428540235CACNA1Fc.2960G= (p.Arg987=)
c.2798G= (p.Arg933=)
c.2993G= (p.Arg998=)
c.227G= (p.Arg76=)
Xg.49217974C>GCA412964486CACNA1Fc.2960G>C (p.Arg987Pro)
c.2798G>C (p.Arg933Pro)
c.2993G>C (p.Arg998Pro)
c.227G>C (p.Arg76Pro)
Xg.49217974C>TCA10410566CACNA1Fc.2960G>A (p.Arg987Gln)
c.2798G>A (p.Arg933Gln)
c.2993G>A (p.Arg998Gln)
c.227G>A (p.Arg76Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.49217975G>ACA412964487CACNA1Fc.2959C>T (p.Arg987Trp)
c.2797C>T (p.Arg933Trp)
c.2992C>T (p.Arg998Trp)
c.226C>T (p.Arg76Trp)
 ClinVar dbSNP gnomAD v4 COSMIC
Xg.49217975G>CCA412964488CACNA1Fc.2959C>G (p.Arg987Gly)
c.2797C>G (p.Arg933Gly)
c.2992C>G (p.Arg998Gly)
c.226C>G (p.Arg76Gly)
Xg.49217975G=CA2428540236CACNA1Fc.2959C= (p.Arg987=)
c.2797C= (p.Arg933=)
c.2992C= (p.Arg998=)
c.226C= (p.Arg76=)
Xg.49217975G>TCA10410567CACNA1Fc.2959C>A (p.Arg987=)
c.2797C>A (p.Arg933=)
c.2992C>A (p.Arg998=)
c.226C>A (p.Arg76=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49217975_49217976delCA2579607624CACNA1Fc.2958_2959del (p.Ile986MetfsTer?)
c.2796_2797del (p.Ile932MetfsTer?)
c.2991_2992del (p.Ile997MetfsTer?)
c.225_226del (p.Ile75MetfsTer?)
Xg.49217976G>ACA10410568CACNA1Fc.2958C>T (p.Ile986=)
c.2796C>T (p.Ile932=)
c.2991C>T (p.Ile997=)
c.225C>T (p.Ile75=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49217976G>CCA412964489CACNA1Fc.2958C>G (p.Ile986Met)
c.2796C>G (p.Ile932Met)
c.2991C>G (p.Ile997Met)
c.225C>G (p.Ile75Met)
Xg.49217976G=CA2428540237CACNA1Fc.2958C= (p.Ile986=)
c.2796C= (p.Ile932=)
c.2991C= (p.Ile997=)
c.225C= (p.Ile75=)
Xg.49217976G>TCA516377449CACNA1Fc.2958C>A (p.Ile986=)
c.2796C>A (p.Ile932=)
c.2991C>A (p.Ile997=)
c.225C>A (p.Ile75=)
Xg.49217977A>CCA412964490CACNA1Fc.2957T>G (p.Ile986Ser)
c.2795T>G (p.Ile932Ser)
c.2990T>G (p.Ile997Ser)
c.224T>G (p.Ile75Ser)
Xg.49217977A>GCA412964491CACNA1Fc.2957T>C (p.Ile986Thr)
c.2795T>C (p.Ile932Thr)
c.2990T>C (p.Ile997Thr)
c.224T>C (p.Ile75Thr)
Xg.49217977A>TCA412964492CACNA1Fc.2957T>A (p.Ile986Asn)
c.2795T>A (p.Ile932Asn)
c.2990T>A (p.Ile997Asn)
c.224T>A (p.Ile75Asn)
Xg.49217978T>ACA412964495CACNA1Fc.2956A>T (p.Ile986Phe)
c.2794A>T (p.Ile932Phe)
c.2989A>T (p.Ile997Phe)
c.223A>T (p.Ile75Phe)
Xg.49217978T>CCA412964494CACNA1Fc.2956A>G (p.Ile986Val)
c.2794A>G (p.Ile932Val)
c.2989A>G (p.Ile997Val)
c.223A>G (p.Ile75Val)
Xg.49217978T>GCA412964493CACNA1Fc.2956A>C (p.Ile986Leu)
c.2794A>C (p.Ile932Leu)
c.2989A>C (p.Ile997Leu)
c.223A>C (p.Ile75Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.49217978T=CA2428540238CACNA1Fc.2956A= (p.Ile986=)
c.2794A= (p.Ile932=)
c.2989A= (p.Ile997=)
c.223A= (p.Ile75=)
Xg.49217979G>ACA516377450CACNA1Fc.2955C>T (p.Ala985=)
c.2793C>T (p.Ala931=)
c.2988C>T (p.Ala996=)
c.222C>T (p.Ala74=)
Xg.49217979G>CCA516377451CACNA1Fc.2955C>G (p.Ala985=)
c.2793C>G (p.Ala931=)
c.2988C>G (p.Ala996=)
c.222C>G (p.Ala74=)
Xg.49217979G>TCA516377452CACNA1Fc.2955C>A (p.Ala985=)
c.2793C>A (p.Ala931=)
c.2988C>A (p.Ala996=)
c.222C>A (p.Ala74=)
Xg.49217980G>ACA412964496CACNA1Fc.2954C>T (p.Ala985Val)
c.2792C>T (p.Ala931Val)
c.2987C>T (p.Ala996Val)
c.221C>T (p.Ala74Val)
Xg.49217980G>CCA412964497CACNA1Fc.2954C>G (p.Ala985Gly)
c.2792C>G (p.Ala931Gly)
c.2987C>G (p.Ala996Gly)
c.221C>G (p.Ala74Gly)
Xg.49217980G>TCA412964498CACNA1Fc.2954C>A (p.Ala985Asp)
c.2792C>A (p.Ala931Asp)
c.2987C>A (p.Ala996Asp)
c.221C>A (p.Ala74Asp)
 gnomAD v4
Xg.49217981C>ACA412964499CACNA1Fc.2953G>T (p.Ala985Ser)
c.2791G>T (p.Ala931Ser)
c.2986G>T (p.Ala996Ser)
c.220G>T (p.Ala74Ser)
Xg.49217981C>GCA412964500CACNA1Fc.2953G>C (p.Ala985Pro)
c.2791G>C (p.Ala931Pro)
c.2986G>C (p.Ala996Pro)
c.220G>C (p.Ala74Pro)
Xg.49217981C>TCA412964501CACNA1Fc.2953G>A (p.Ala985Thr)
c.2791G>A (p.Ala931Thr)
c.2986G>A (p.Ala996Thr)
c.220G>A (p.Ala74Thr)
Xg.49217982delCA2579607625CACNA1Fc.2953del (p.Ala985ProfsTer9)
c.2791del (p.Ala931ProfsTer9)
c.2986del (p.Ala996ProfsTer9)
c.220del (p.Ala74ProfsTer9)
 ClinVar
Xg.49217982C>ACA516377455CACNA1Fc.2952G>T (p.Val984=)
c.2790G>T (p.Val930=)
c.2985G>T (p.Val995=)
c.219G>T (p.Val73=)
Xg.49217982C>GCA516377454CACNA1Fc.2952G>C (p.Val984=)
c.2790G>C (p.Val930=)
c.2985G>C (p.Val995=)
c.219G>C (p.Val73=)
Xg.49217982C>TCA516377453CACNA1Fc.2952G>A (p.Val984=)
c.2790G>A (p.Val930=)
c.2985G>A (p.Val995=)
c.219G>A (p.Val73=)
Xg.49217983A>CCA412964504CACNA1Fc.2951T>G (p.Val984Gly)
c.2789T>G (p.Val930Gly)
c.2984T>G (p.Val995Gly)
c.218T>G (p.Val73Gly)
Xg.49217983A>GCA412964503CACNA1Fc.2951T>C (p.Val984Ala)
c.2789T>C (p.Val930Ala)
c.2984T>C (p.Val995Ala)
c.218T>C (p.Val73Ala)
Xg.49217983A>TCA412964502CACNA1Fc.2951T>A (p.Val984Glu)
c.2789T>A (p.Val930Glu)
c.2984T>A (p.Val995Glu)
c.218T>A (p.Val73Glu)
Xg.49217984C>ACA412964505CACNA1Fc.2950G>T (p.Val984Leu)
c.2788G>T (p.Val930Leu)
c.2983G>T (p.Val995Leu)
c.217G>T (p.Val73Leu)
 COSMIC
Xg.49217984C>GCA412964506CACNA1Fc.2950G>C (p.Val984Leu)
c.2788G>C (p.Val930Leu)
c.2983G>C (p.Val995Leu)
c.217G>C (p.Val73Leu)
Xg.49217984C>TCA412964507CACNA1Fc.2950G>A (p.Val984Met)
c.2788G>A (p.Val930Met)
c.2983G>A (p.Val995Met)
c.217G>A (p.Val73Met)
Xg.49217985A=CA2428540239CACNA1Fc.2949T= (p.Phe983=)
c.2787T= (p.Phe929=)
c.2982T= (p.Phe994=)
c.216T= (p.Phe72=)
Xg.49217985A>CCA412964508CACNA1Fc.2949T>G (p.Phe983Leu)
c.2787T>G (p.Phe929Leu)
c.2982T>G (p.Phe994Leu)
c.216T>G (p.Phe72Leu)
 ClinVar dbSNP
Xg.49217985A>GCA516377456CACNA1Fc.2949T>C (p.Phe983=)
c.2787T>C (p.Phe929=)
c.2982T>C (p.Phe994=)
c.216T>C (p.Phe72=)
Xg.49217985A>TCA412964509CACNA1Fc.2949T>A (p.Phe983Leu)
c.2787T>A (p.Phe929Leu)
c.2982T>A (p.Phe994Leu)
c.216T>A (p.Phe72Leu)
Xg.49217986A>CCA412964512CACNA1Fc.2948T>G (p.Phe983Cys)
c.2786T>G (p.Phe929Cys)
c.2981T>G (p.Phe994Cys)
c.215T>G (p.Phe72Cys)
Xg.49217986A>GCA412964511CACNA1Fc.2948T>C (p.Phe983Ser)
c.2786T>C (p.Phe929Ser)
c.2981T>C (p.Phe994Ser)
c.215T>C (p.Phe72Ser)
Xg.49217986A>TCA412964510CACNA1Fc.2948T>A (p.Phe983Tyr)
c.2786T>A (p.Phe929Tyr)
c.2981T>A (p.Phe994Tyr)
c.215T>A (p.Phe72Tyr)
Xg.49217987A>CCA412964513CACNA1Fc.2947T>G (p.Phe983Val)
c.2785T>G (p.Phe929Val)
c.2980T>G (p.Phe994Val)
c.214T>G (p.Phe72Val)
Xg.49217987A>GCA412964514CACNA1Fc.2947T>C (p.Phe983Leu)
c.2785T>C (p.Phe929Leu)
c.2980T>C (p.Phe994Leu)
c.214T>C (p.Phe72Leu)
Xg.49217987A>TCA412964515CACNA1Fc.2947T>A (p.Phe983Ile)
c.2785T>A (p.Phe929Ile)
c.2980T>A (p.Phe994Ile)
c.214T>A (p.Phe72Ile)
Xg.49217988T>ACA516377457CACNA1Fc.2946A>T (p.Val982=)
c.2784A>T (p.Val928=)
c.2979A>T (p.Val993=)
c.213A>T (p.Val71=)
Xg.49217988T>CCA516377458CACNA1Fc.2946A>G (p.Val982=)
c.2784A>G (p.Val928=)
c.2979A>G (p.Val993=)
c.213A>G (p.Val71=)
Xg.49217988T>GCA516377459CACNA1Fc.2946A>C (p.Val982=)
c.2784A>C (p.Val928=)
c.2979A>C (p.Val993=)
c.213A>C (p.Val71=)
Xg.49217989A>CCA412964516CACNA1Fc.2945T>G (p.Val982Gly)
c.2783T>G (p.Val928Gly)
c.2978T>G (p.Val993Gly)
c.212T>G (p.Val71Gly)
Xg.49217989A>GCA412964517CACNA1Fc.2945T>C (p.Val982Ala)
c.2783T>C (p.Val928Ala)
c.2978T>C (p.Val993Ala)
c.212T>C (p.Val71Ala)
Xg.49217989A>TCA412964518CACNA1Fc.2945T>A (p.Val982Glu)
c.2783T>A (p.Val928Glu)
c.2978T>A (p.Val993Glu)
c.212T>A (p.Val71Glu)
 COSMIC
Xg.49217990C>ACA412964521CACNA1Fc.2944G>T (p.Val982Leu)
c.2782G>T (p.Val928Leu)
c.2977G>T (p.Val993Leu)
c.211G>T (p.Val71Leu)
Xg.49217990C>GCA412964519CACNA1Fc.2944G>C (p.Val982Leu)
c.2782G>C (p.Val928Leu)
c.2977G>C (p.Val993Leu)
c.211G>C (p.Val71Leu)
Xg.49217990C>TCA412964520CACNA1Fc.2944G>A (p.Val982Ile)
c.2782G>A (p.Val928Ile)
c.2977G>A (p.Val993Ile)
c.211G>A (p.Val71Ile)
Xg.49217991A>CCA412964522CACNA1Fc.2943T>G (p.Cys981Trp)
c.2781T>G (p.Cys927Trp)
c.2976T>G (p.Cys992Trp)
c.210T>G (p.Cys70Trp)
Xg.49217991A>GCA516377460CACNA1Fc.2943T>C (p.Cys981=)
c.2781T>C (p.Cys927=)
c.2976T>C (p.Cys992=)
c.210T>C (p.Cys70=)
Xg.49217991A>TCA412964523CACNA1Fc.2943T>A (p.Cys981Ter)
c.2781T>A (p.Cys927Ter)
c.2976T>A (p.Cys992Ter)
c.210T>A (p.Cys70Ter)
Xg.49217992C>ACA412964524CACNA1Fc.2942G>T (p.Cys981Phe)
c.2780G>T (p.Cys927Phe)
c.2975G>T (p.Cys992Phe)
c.209G>T (p.Cys70Phe)
Xg.49217992C>GCA412964525CACNA1Fc.2942G>C (p.Cys981Ser)
c.2780G>C (p.Cys927Ser)
c.2975G>C (p.Cys992Ser)
c.209G>C (p.Cys70Ser)
Xg.49217992C>TCA412964526CACNA1Fc.2942G>A (p.Cys981Tyr)
c.2780G>A (p.Cys927Tyr)
c.2975G>A (p.Cys992Tyr)
c.209G>A (p.Cys70Tyr)
Xg.49217993A>CCA412964527CACNA1Fc.2941T>G (p.Cys981Gly)
c.2779T>G (p.Cys927Gly)
c.2974T>G (p.Cys992Gly)
c.208T>G (p.Cys70Gly)
 COSMIC
Xg.49217993A>GCA412964528CACNA1Fc.2941T>C (p.Cys981Arg)
c.2779T>C (p.Cys927Arg)
c.2974T>C (p.Cys992Arg)
c.208T>C (p.Cys70Arg)
Xg.49217993A>TCA412964529CACNA1Fc.2941T>A (p.Cys981Ser)
c.2779T>A (p.Cys927Ser)
c.2974T>A (p.Cys992Ser)
c.208T>A (p.Cys70Ser)
Xg.49217994C>ACA412964530CACNA1Fc.2940G>T (p.Gln980His)
c.2778G>T (p.Gln926His)
c.2973G>T (p.Gln991His)
c.207G>T (p.Gln69His)
Xg.49217994C>GCA412964531CACNA1Fc.2940G>C (p.Gln980His)
c.2778G>C (p.Gln926His)
c.2973G>C (p.Gln991His)
c.207G>C (p.Gln69His)
Xg.49217994C>TCA516377461CACNA1Fc.2940G>A (p.Gln980=)
c.2778G>A (p.Gln926=)
c.2973G>A (p.Gln991=)
c.207G>A (p.Gln69=)
Xg.49217995T>ACA412964532CACNA1Fc.2939A>T (p.Gln980Leu)
c.2777A>T (p.Gln926Leu)
c.2972A>T (p.Gln991Leu)
c.206A>T (p.Gln69Leu)
Xg.49217995T>CCA412964533CACNA1Fc.2939A>G (p.Gln980Arg)
c.2777A>G (p.Gln926Arg)
c.2972A>G (p.Gln991Arg)
c.206A>G (p.Gln69Arg)
Xg.49217995T>GCA412964534CACNA1Fc.2939A>C (p.Gln980Pro)
c.2777A>C (p.Gln926Pro)
c.2972A>C (p.Gln991Pro)
c.206A>C (p.Gln69Pro)
Xg.49217996G>ACA412964535CACNA1Fc.2938C>T (p.Gln980Ter)
c.2776C>T (p.Gln926Ter)
c.2971C>T (p.Gln991Ter)
c.205C>T (p.Gln69Ter)
 gnomAD v4
Xg.49217996G>CCA412964537CACNA1Fc.2938C>G (p.Gln980Glu)
c.2776C>G (p.Gln926Glu)
c.2971C>G (p.Gln991Glu)
c.205C>G (p.Gln69Glu)
Xg.49217996G>TCA412964536CACNA1Fc.2938C>A (p.Gln980Lys)
c.2776C>A (p.Gln926Lys)
c.2971C>A (p.Gln991Lys)
c.205C>A (p.Gln69Lys)
 gnomAD v4
Xg.49217997C>ACA516377464CACNA1Fc.2937G>T (p.Val979=)
c.2775G>T (p.Val925=)
c.2970G>T (p.Val990=)
c.204G>T (p.Val68=)
 COSMIC
Xg.49217997C=CA2428540240CACNA1Fc.2937G= (p.Val979=)
c.2775G= (p.Val925=)
c.2970G= (p.Val990=)
c.204G= (p.Val68=)
Xg.49217997C>GCA516377462CACNA1Fc.2937G>C (p.Val979=)
c.2775G>C (p.Val925=)
c.2970G>C (p.Val990=)
c.204G>C (p.Val68=)
Xg.49217997C>TCA516377463CACNA1Fc.2937G>A (p.Val979=)
c.2775G>A (p.Val925=)
c.2970G>A (p.Val990=)
c.204G>A (p.Val68=)
 dbSNP gnomAD v3 gnomAD v4
Xg.49217998A=CA2428540241CACNA1Fc.2936T= (p.Val979=)
c.2774T= (p.Val925=)
c.2969T= (p.Val990=)
c.203T= (p.Val68=)
Xg.49217998A>CCA412964538CACNA1Fc.2936T>G (p.Val979Gly)
c.2774T>G (p.Val925Gly)
c.2969T>G (p.Val990Gly)
c.203T>G (p.Val68Gly)
Xg.49217998A>GCA10410569CACNA1Fc.2936T>C (p.Val979Ala)
c.2774T>C (p.Val925Ala)
c.2969T>C (p.Val990Ala)
c.203T>C (p.Val68Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49217998A>TCA412964539CACNA1Fc.2936T>A (p.Val979Glu)
c.2774T>A (p.Val925Glu)
c.2969T>A (p.Val990Glu)
c.203T>A (p.Val68Glu)
Xg.49217999C>ACA412964540CACNA1Fc.2935G>T (p.Val979Leu)
c.2773G>T (p.Val925Leu)
c.2968G>T (p.Val990Leu)
c.202G>T (p.Val68Leu)
Xg.49217999C>GCA412964541CACNA1Fc.2935G>C (p.Val979Leu)
c.2773G>C (p.Val925Leu)
c.2968G>C (p.Val990Leu)
c.202G>C (p.Val68Leu)
 gnomAD v4
Xg.49217999C>TCA412964542CACNA1Fc.2935G>A (p.Val979Met)
c.2773G>A (p.Val925Met)
c.2968G>A (p.Val990Met)
c.202G>A (p.Val68Met)
Xg.49218000delCA2693707788CACNA1Fc.2935del (p.Val979CysfsTer15)
c.2773del (p.Val925CysfsTer15)
c.2968del (p.Val990CysfsTer15)
c.202del (p.Val68CysfsTer15)
 gnomAD v4
Xg.49218000C>ACA516377465CACNA1Fc.2934G>T (p.Val978=)
c.2772G>T (p.Val924=)
c.2967G>T (p.Val989=)
c.201G>T (p.Val67=)
 gnomAD v4
Xg.49218000C>GCA516377466CACNA1Fc.2934G>C (p.Val978=)
c.2772G>C (p.Val924=)
c.2967G>C (p.Val989=)
c.201G>C (p.Val67=)
Xg.49218000C>TCA516377467CACNA1Fc.2934G>A (p.Val978=)
c.2772G>A (p.Val924=)
c.2967G>A (p.Val989=)
c.201G>A (p.Val67=)
 gnomAD v4
Xg.49218001A>CCA412964545CACNA1Fc.2933T>G (p.Val978Gly)
c.2771T>G (p.Val924Gly)
c.2966T>G (p.Val989Gly)
c.200T>G (p.Val67Gly)
Xg.49218001A>GCA412964543CACNA1Fc.2933T>C (p.Val978Ala)
c.2771T>C (p.Val924Ala)
c.2966T>C (p.Val989Ala)
c.200T>C (p.Val67Ala)
Xg.49218001A>TCA412964544CACNA1Fc.2933T>A (p.Val978Glu)
c.2771T>A (p.Val924Glu)
c.2966T>A (p.Val989Glu)
c.200T>A (p.Val67Glu)
Xg.49218002C>ACA412964546CACNA1Fc.2932G>T (p.Val978Leu)
c.2770G>T (p.Val924Leu)
c.2965G>T (p.Val989Leu)
c.199G>T (p.Val67Leu)
Xg.49218002C>GCA412964547CACNA1Fc.2932G>C (p.Val978Leu)
c.2770G>C (p.Val924Leu)
c.2965G>C (p.Val989Leu)
c.199G>C (p.Val67Leu)
Xg.49218002C>TCA412964548CACNA1Fc.2932G>A (p.Val978Met)
c.2770G>A (p.Val924Met)
c.2965G>A (p.Val989Met)
c.199G>A (p.Val67Met)
 gnomAD v4
Xg.49218003A=CA2428540242CACNA1Fc.2931T= (p.His977=)
c.2769T= (p.His923=)
c.2964T= (p.His988=)
c.198T= (p.His66=)
Xg.49218003A>CCA412964549CACNA1Fc.2931T>G (p.His977Gln)
c.2769T>G (p.His923Gln)
c.2964T>G (p.His988Gln)
c.198T>G (p.His66Gln)
Xg.49218003A>GCA329140797CACNA1Fc.2931T>C (p.His977=)
c.2769T>C (p.His923=)
c.2964T>C (p.His988=)
c.198T>C (p.His66=)
 dbSNP gnomAD v2 gnomAD v4
Xg.49218003A>TCA412964550CACNA1Fc.2931T>A (p.His977Gln)
c.2769T>A (p.His923Gln)
c.2964T>A (p.His988Gln)
c.198T>A (p.His66Gln)
Xg.49218004T>ACA412964551CACNA1Fc.2930A>T (p.His977Leu)
c.2768A>T (p.His923Leu)
c.2963A>T (p.His988Leu)
c.197A>T (p.His66Leu)
Xg.49218004T>CCA412964553CACNA1Fc.2930A>G (p.His977Arg)
c.2768A>G (p.His923Arg)
c.2963A>G (p.His988Arg)
c.197A>G (p.His66Arg)
 gnomAD v4
Xg.49218004T>GCA412964552CACNA1Fc.2930A>C (p.His977Pro)
c.2768A>C (p.His923Pro)
c.2963A>C (p.His988Pro)
c.197A>C (p.His66Pro)
Xg.49218005G>ACA412964554CACNA1Fc.2929C>T (p.His977Tyr)
c.2767C>T (p.His923Tyr)
c.2962C>T (p.His988Tyr)
c.196C>T (p.His66Tyr)
 dbSNP gnomAD v2 gnomAD v4
Xg.49218005G>CCA412964555CACNA1Fc.2929C>G (p.His977Asp)
c.2767C>G (p.His923Asp)
c.2962C>G (p.His988Asp)
c.196C>G (p.His66Asp)
Xg.49218005G=CA2428540243CACNA1Fc.2929C= (p.His977=)
c.2767C= (p.His923=)
c.2962C= (p.His988=)
c.196C= (p.His66=)
Xg.49218005G>TCA412964556CACNA1Fc.2929C>A (p.His977Asn)
c.2767C>A (p.His923Asn)
c.2962C>A (p.His988Asn)
c.196C>A (p.His66Asn)
 gnomAD v4
Xg.49218006C>ACA412964557CACNA1Fc.2929-1G>T (n.2929-1G>T)
c.2767-1G>T (n.2767-1G>T)
c.2962-1G>T (n.2962-1G>T)
c.196-1G>T (n.196-1G>T)
Xg.49218006C>GCA412964558CACNA1Fc.2929-1G>C (n.2929-1G>C)
c.2767-1G>C (n.2767-1G>C)
c.2962-1G>C (n.2962-1G>C)
c.196-1G>C (n.196-1G>C)
Xg.49218006C>TCA412964559CACNA1Fc.2929-1G>A (n.2929-1G>A)
c.2767-1G>A (n.2767-1G>A)
c.2962-1G>A (n.2962-1G>A)
c.196-1G>A (n.196-1G>A)
 ClinVar dbSNP gnomAD v4
Xg.49218007T>ACA412964560CACNA1Fc.2929-2A>T (n.2929-2A>T)
c.2767-2A>T (n.2767-2A>T)
c.2962-2A>T (n.2962-2A>T)
c.196-2A>T (n.196-2A>T)
Xg.49218007T>CCA412964561CACNA1Fc.2929-2A>G (n.2929-2A>G)
c.2767-2A>G (n.2767-2A>G)
c.2962-2A>G (n.2962-2A>G)
c.196-2A>G (n.196-2A>G)
Xg.49218007T>GCA412964562CACNA1Fc.2929-2A>C (n.2929-2A>C)
c.2767-2A>C (n.2767-2A>C)
c.2962-2A>C (n.2962-2A>C)
c.196-2A>C (n.196-2A>C)
Xg.49218008G>TCA2693707815CACNA1Fc.2929-3C>A (n.2929-3C>A)
c.2767-3C>A (n.2767-3C>A)
c.2962-3C>A (n.2962-3C>A)
c.196-3C>A (n.196-3C>A)
 gnomAD v4
Xg.49218008_49218009insACAACA2820835526CACNA1Fc.2929-4_2929-3insTTGT (n.2929-4_2929-3insTTGT)
c.2767-4_2767-3insTTGT (n.2767-4_2767-3insTTGT)
c.2962-4_2962-3insTTGT (n.2962-4_2962-3insTTGT)
c.196-4_196-3insTTGT (n.196-4_196-3insTTGT)
Xg.49218009C=CA2428540244CACNA1Fc.2929-4G= (n.2929-4G=)
c.2767-4G= (n.2767-4G=)
c.2962-4G= (n.2962-4G=)
c.196-4G= (n.196-4G=)
Xg.49218009C>GCA2693707820CACNA1Fc.2929-4G>C (n.2929-4G>C)
c.2767-4G>C (n.2767-4G>C)
c.2962-4G>C (n.2962-4G>C)
c.196-4G>C (n.196-4G>C)
 gnomAD v4
Xg.49218009C>TCA329140802CACNA1Fc.2929-4G>A (n.2929-4G>A)
c.2767-4G>A (n.2767-4G>A)
c.2962-4G>A (n.2962-4G>A)
c.196-4G>A (n.196-4G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218010G>ACA10410570CACNA1Fc.2929-5C>T (n.2929-5C>T)
c.2767-5C>T (n.2767-5C>T)
c.2962-5C>T (n.2962-5C>T)
c.196-5C>T (n.196-5C>T)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
Xg.49218010G=CA2428540246CACNA1Fc.2929-5C= (n.2929-5C=)
c.2767-5C= (n.2767-5C=)
c.2962-5C= (n.2962-5C=)
c.196-5C= (n.196-5C=)
Xg.49218010G>TCA2428540245CACNA1Fc.2929-5C>A (n.2929-5C>A)
c.2767-5C>A (n.2767-5C>A)
c.2962-5C>A (n.2962-5C>A)
c.196-5C>A (n.196-5C>A)
 dbSNP
Xg.49218012delCA2693707824CACNA1Fc.2929-5del (n.2929-5del)
c.2767-5del (n.2767-5del)
c.2962-5del (n.2962-5del)
c.196-5del (n.196-5del)
 gnomAD v4
Xg.49218011G>ACA2693707834CACNA1Fc.2929-6C>T (n.2929-6C>T)
c.2767-6C>T (n.2767-6C>T)
c.2962-6C>T (n.2962-6C>T)
c.196-6C>T (n.196-6C>T)
 gnomAD v4
Xg.49218011_49218013delCA2820835528CACNA1Fc.2929-8_2929-6del (n.2929-8_2929-6del)
c.2767-8_2767-6del (n.2767-8_2767-6del)
c.2962-8_2962-6del (n.2962-8_2962-6del)
c.196-8_196-6del (n.196-8_196-6del)
Xg.49218012G>ACA2579607626CACNA1Fc.2929-7C>T (n.2929-7C>T)
c.2767-7C>T (n.2767-7C>T)
c.2962-7C>T (n.2962-7C>T)
c.196-7C>T (n.196-7C>T)
 gnomAD v4
Xg.49218012G>TCA2693707836CACNA1Fc.2929-7C>A (n.2929-7C>A)
c.2767-7C>A (n.2767-7C>A)
c.2962-7C>A (n.2962-7C>A)
c.196-7C>A (n.196-7C>A)
 gnomAD v4
Xg.49218013C>TCA2693707838CACNA1Fc.2929-8G>A (n.2929-8G>A)
c.2767-8G>A (n.2767-8G>A)
c.2962-8G>A (n.2962-8G>A)
c.196-8G>A (n.196-8G>A)
 gnomAD v4
Xg.49218015C>TCA2579607627CACNA1Fc.2929-10G>A (n.2929-10G>A)
c.2767-10G>A (n.2767-10G>A)
c.2962-10G>A (n.2962-10G>A)
c.196-10G>A (n.196-10G>A)
Xg.49218016_49218021delCA2820835529CACNA1Fc.2929-15_2929-10del (n.2929-15_2929-10del)
c.2767-15_2767-10del (n.2767-15_2767-10del)
c.2962-15_2962-10del (n.2962-15_2962-10del)
c.196-15_196-10del (n.196-15_196-10del)
Xg.49218016C>ACA2693707839CACNA1Fc.2929-11G>T (n.2929-11G>T)
c.2767-11G>T (n.2767-11G>T)
c.2962-11G>T (n.2962-11G>T)
c.196-11G>T (n.196-11G>T)
 gnomAD v4
Xg.49218017C>ACA2693707842CACNA1Fc.2929-12G>T (n.2929-12G>T)
c.2767-12G>T (n.2767-12G>T)
c.2962-12G>T (n.2962-12G>T)
c.196-12G>T (n.196-12G>T)
 gnomAD v4
Xg.49218017_49218018delinsCACA2428540247CACNA1Fc.2929-13_2929-12delinsTG (n.2929-13_2929-12delinsTG)
c.2767-13_2767-12delinsTG (n.2767-13_2767-12delinsTG)
c.2962-13_2962-12delinsTG (n.2962-13_2962-12delinsTG)
c.196-13_196-12delinsTG (n.196-13_196-12delinsTG)
Xg.49218018A=CA2428540248CACNA1Fc.2929-13T= (n.2929-13T=)
c.2767-13T= (n.2767-13T=)
c.2962-13T= (n.2962-13T=)
c.196-13T= (n.196-13T=)
Xg.49218018A>CCA10410571CACNA1Fc.2929-13T>G (n.2929-13T>G)
c.2767-13T>G (n.2767-13T>G)
c.2962-13T>G (n.2962-13T>G)
c.196-13T>G (n.196-13T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218018A>GCA2693707845CACNA1Fc.2929-13T>C (n.2929-13T>C)
c.2767-13T>C (n.2767-13T>C)
c.2962-13T>C (n.2962-13T>C)
c.196-13T>C (n.196-13T>C)
 gnomAD v4
Xg.49218019delCA641531481CACNA1Fc.2929-13del (n.2929-13del)
c.2767-13del (n.2767-13del)
c.2962-13del (n.2962-13del)
c.196-13del (n.196-13del)
 dbSNP gnomAD v2 gnomAD v4
Xg.49218019A>CCA2546280385CACNA1Fc.2929-14T>G (n.2929-14T>G)
c.2767-14T>G (n.2767-14T>G)
c.2962-14T>G (n.2962-14T>G)
c.196-14T>G (n.196-14T>G)
 gnomAD v4
Xg.49218020G>ACA2572610346CACNA1Fc.2929-15C>T (n.2929-15C>T)
c.2767-15C>T (n.2767-15C>T)
c.2962-15C>T (n.2962-15C>T)
c.196-15C>T (n.196-15C>T)
 gnomAD v4
Xg.49218020G>TCA2693707852CACNA1Fc.2929-15C>A (n.2929-15C>A)
c.2767-15C>A (n.2767-15C>A)
c.2962-15C>A (n.2962-15C>A)
c.196-15C>A (n.196-15C>A)
 gnomAD v4
Xg.49218021C>ACA2693707854CACNA1Fc.2929-16G>T (n.2929-16G>T)
c.2767-16G>T (n.2767-16G>T)
c.2962-16G>T (n.2962-16G>T)
c.196-16G>T (n.196-16G>T)
 gnomAD v4
Xg.49218022A>GCA2579607628CACNA1Fc.2929-17T>C (n.2929-17T>C)
c.2767-17T>C (n.2767-17T>C)
c.2962-17T>C (n.2962-17T>C)
c.196-17T>C (n.196-17T>C)
Xg.49218024A=CA2428540249CACNA1Fc.2929-19T= (n.2929-19T=)
c.2767-19T= (n.2767-19T=)
c.2962-19T= (n.2962-19T=)
c.196-19T= (n.196-19T=)
Xg.49218024A>GCA10410572CACNA1Fc.2929-19T>C (n.2929-19T>C)
c.2767-19T>C (n.2767-19T>C)
c.2962-19T>C (n.2962-19T>C)
c.196-19T>C (n.196-19T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218024A>TCA2693707857CACNA1Fc.2929-19T>A (n.2929-19T>A)
c.2767-19T>A (n.2767-19T>A)
c.2962-19T>A (n.2962-19T>A)
c.196-19T>A (n.196-19T>A)
 gnomAD v4
Xg.49218025T>ACA2693707862CACNA1Fc.2929-20A>T (n.2929-20A>T)
c.2767-20A>T (n.2767-20A>T)
c.2962-20A>T (n.2962-20A>T)
c.196-20A>T (n.196-20A>T)
 gnomAD v4
Xg.49218025T>CCA2557030023CACNA1Fc.2929-20A>G (n.2929-20A>G)
c.2767-20A>G (n.2767-20A>G)
c.2962-20A>G (n.2962-20A>G)
c.196-20A>G (n.196-20A>G)
Xg.49218026_49218039delCA2820835531CACNA1Fc.2929-33_2929-20del (n.2929-33_2929-20del)
c.2767-33_2767-20del (n.2767-33_2767-20del)
c.2962-33_2962-20del (n.2962-33_2962-20del)
c.196-33_196-20del (n.196-33_196-20del)

Number of alleles fetched