Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.49217755_49221080delCA916084263CACNA1Fc.2290_3089+1del
c.2128_2927+1del
c.2323_3122+1del
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)
Xg.49218026G>ACA10410573CACNA1Fc.2929-21C>T (n.2929-21C>T)
c.2767-21C>T (n.2767-21C>T)
c.2962-21C>T (n.2962-21C>T)
c.196-21C>T (n.196-21C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218026G=CA2428540250CACNA1Fc.2929-21C= (n.2929-21C=)
c.2767-21C= (n.2767-21C=)
c.2962-21C= (n.2962-21C=)
c.196-21C= (n.196-21C=)
Xg.49218026G>TCA2693707864CACNA1Fc.2929-21C>A (n.2929-21C>A)
c.2767-21C>A (n.2767-21C>A)
c.2962-21C>A (n.2962-21C>A)
c.196-21C>A (n.196-21C>A)
gnomAD v4
Xg.49218027G>ACA10410574CACNA1Fc.2929-22C>T (n.2929-22C>T)
c.2767-22C>T (n.2767-22C>T)
c.2962-22C>T (n.2962-22C>T)
c.196-22C>T (n.196-22C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49218027G=CA2428540251CACNA1Fc.2929-22C= (n.2929-22C=)
c.2767-22C= (n.2767-22C=)
c.2962-22C= (n.2962-22C=)
c.196-22C= (n.196-22C=)
Xg.49218027G>TCA2693707865CACNA1Fc.2929-22C>A (n.2929-22C>A)
c.2767-22C>A (n.2767-22C>A)
c.2962-22C>A (n.2962-22C>A)
c.196-22C>A (n.196-22C>A)
gnomAD v4
Xg.49218028C>ACA2693707866CACNA1Fc.2929-23G>T (n.2929-23G>T)
c.2767-23G>T (n.2767-23G>T)
c.2962-23G>T (n.2962-23G>T)
c.196-23G>T (n.196-23G>T)
gnomAD v4
Xg.49218030A>CCA2564399443CACNA1Fc.2929-25T>G (n.2929-25T>G)
c.2767-25T>G (n.2767-25T>G)
c.2962-25T>G (n.2962-25T>G)
c.196-25T>G (n.196-25T>G)
Xg.49218031C>TCA2693707867CACNA1Fc.2929-26G>A (n.2929-26G>A)
c.2767-26G>A (n.2767-26G>A)
c.2962-26G>A (n.2962-26G>A)
c.196-26G>A (n.196-26G>A)
gnomAD v4
Xg.49218033G>ACA2693707869CACNA1Fc.2929-28C>T (n.2929-28C>T)
c.2767-28C>T (n.2767-28C>T)
c.2962-28C>T (n.2962-28C>T)
c.196-28C>T (n.196-28C>T)
gnomAD v4
Xg.49218033G>TCA2693707870CACNA1Fc.2929-28C>A (n.2929-28C>A)
c.2767-28C>A (n.2767-28C>A)
c.2962-28C>A (n.2962-28C>A)
c.196-28C>A (n.196-28C>A)
gnomAD v4
Xg.49218034A>GCA2524486435CACNA1Fc.2929-29T>C (n.2929-29T>C)
c.2767-29T>C (n.2767-29T>C)
c.2962-29T>C (n.2962-29T>C)
c.196-29T>C (n.196-29T>C)
Xg.49218035A>GCA2693707871CACNA1Fc.2929-30T>C (n.2929-30T>C)
c.2767-30T>C (n.2767-30T>C)
c.2962-30T>C (n.2962-30T>C)
c.196-30T>C (n.196-30T>C)
gnomAD v4
Xg.49218036C>TCA2693707873CACNA1Fc.2929-31G>A (n.2929-31G>A)
c.2767-31G>A (n.2767-31G>A)
c.2962-31G>A (n.2962-31G>A)
c.196-31G>A (n.196-31G>A)
gnomAD v4
Xg.49218036_49218038delCA2543925111CACNA1Fc.2929-33_2929-31del (n.2929-33_2929-31del)
c.2767-33_2767-31del (n.2767-33_2767-31del)
c.2962-33_2962-31del (n.2962-33_2962-31del)
c.196-33_196-31del (n.196-33_196-31del)
Xg.49218038C=CA2428540252CACNA1Fc.2929-33G= (n.2929-33G=)
c.2767-33G= (n.2767-33G=)
c.2962-33G= (n.2962-33G=)
c.196-33G= (n.196-33G=)
Xg.49218038C>TCA10410575CACNA1Fc.2929-33G>A (n.2929-33G>A)
c.2767-33G>A (n.2767-33G>A)
c.2962-33G>A (n.2962-33G>A)
c.196-33G>A (n.196-33G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218039T>ACA2579607629CACNA1Fc.2929-34A>T (n.2929-34A>T)
c.2767-34A>T (n.2767-34A>T)
c.2962-34A>T (n.2962-34A>T)
c.196-34A>T (n.196-34A>T)
Xg.49218041C>ACA2693707879CACNA1Fc.2929-36G>T (n.2929-36G>T)
c.2767-36G>T (n.2767-36G>T)
c.2962-36G>T (n.2962-36G>T)
c.196-36G>T (n.196-36G>T)
gnomAD v4
Xg.49218041C=CA2428540253CACNA1Fc.2929-36G= (n.2929-36G=)
c.2767-36G= (n.2767-36G=)
c.2962-36G= (n.2962-36G=)
c.196-36G= (n.196-36G=)
Xg.49218041C>TCA329140831CACNA1Fc.2929-36G>A (n.2929-36G>A)
c.2767-36G>A (n.2767-36G>A)
c.2962-36G>A (n.2962-36G>A)
c.196-36G>A (n.196-36G>A)
dbSNP
Xg.49218041_49218042insCGCCCGCCA2536083472CACNA1Fc.2929-36_2929-35insCGGGCGG (n.2929-36_2929-35insCGGGCGG)
c.2767-36_2767-35insCGGGCGG (n.2767-36_2767-35insCGGGCGG)
c.2962-36_2962-35insCGGGCGG (n.2962-36_2962-35insCGGGCGG)
c.196-36_196-35insCGGGCGG (n.196-36_196-35insCGGGCGG)
Xg.49218045_49218053delCA2693707885CACNA1Fc.2929-46_2929-38del (n.2929-46_2929-38del)
c.2767-46_2767-38del (n.2767-46_2767-38del)
c.2962-46_2962-38del (n.2962-46_2962-38del)
c.196-46_196-38del (n.196-46_196-38del)
gnomAD v4
Xg.49218044G>TCA2579607630CACNA1Fc.2929-39C>A (n.2929-39C>A)
c.2767-39C>A (n.2767-39C>A)
c.2962-39C>A (n.2962-39C>A)
c.196-39C>A (n.196-39C>A)
gnomAD v4
Xg.49218045C>ACA2693707887CACNA1Fc.2929-40G>T (n.2929-40G>T)
c.2767-40G>T (n.2767-40G>T)
c.2962-40G>T (n.2962-40G>T)
c.196-40G>T (n.196-40G>T)
gnomAD v4
Xg.49218047_49218048insTGGCGGCCCCGGGGCA2523135349CACNA1Fc.2929-43_2929-42insCCCCGGGGCCGCCA (n.2929-43_2929-42insCCCCGGGGCCGCCA)
c.2767-43_2767-42insCCCCGGGGCCGCCA (n.2767-43_2767-42insCCCCGGGGCCGCCA)
c.2962-43_2962-42insCCCCGGGGCCGCCA (n.2962-43_2962-42insCCCCGGGGCCGCCA)
c.196-43_196-42insCCCCGGGGCCGCCA (n.196-43_196-42insCCCCGGGGCCGCCA)
Xg.49218048C>TCA2693707888CACNA1Fc.2929-43G>A (n.2929-43G>A)
c.2767-43G>A (n.2767-43G>A)
c.2962-43G>A (n.2962-43G>A)
c.196-43G>A (n.196-43G>A)
gnomAD v4
Xg.49218050G>TCA2693707890CACNA1Fc.2929-45C>A (n.2929-45C>A)
c.2767-45C>A (n.2767-45C>A)
c.2962-45C>A (n.2962-45C>A)
c.196-45C>A (n.196-45C>A)
gnomAD v4
Xg.49218051T>ACA2693707891CACNA1Fc.2929-46A>T (n.2929-46A>T)
c.2767-46A>T (n.2767-46A>T)
c.2962-46A>T (n.2962-46A>T)
c.196-46A>T (n.196-46A>T)
gnomAD v4
Xg.49218051T>CCA10410576CACNA1Fc.2929-46A>G (n.2929-46A>G)
c.2767-46A>G (n.2767-46A>G)
c.2962-46A>G (n.2962-46A>G)
c.196-46A>G (n.196-46A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218051T=CA2428540254CACNA1Fc.2929-46A= (n.2929-46A=)
c.2767-46A= (n.2767-46A=)
c.2962-46A= (n.2962-46A=)
c.196-46A= (n.196-46A=)
Xg.49218058_49218077delCA2820835532CACNA1Fc.2929-65_2929-46del (n.2929-65_2929-46del)
c.2767-65_2767-46del (n.2767-65_2767-46del)
c.2962-65_2962-46del (n.2962-65_2962-46del)
c.196-65_196-46del (n.196-65_196-46del)
Xg.49218052G>CCA2693707894CACNA1Fc.2929-47C>G (n.2929-47C>G)
c.2767-47C>G (n.2767-47C>G)
c.2962-47C>G (n.2962-47C>G)
c.196-47C>G (n.196-47C>G)
gnomAD v4
Xg.49218052G>TCA2579607631CACNA1Fc.2929-47C>A (n.2929-47C>A)
c.2767-47C>A (n.2767-47C>A)
c.2962-47C>A (n.2962-47C>A)
c.196-47C>A (n.196-47C>A)
gnomAD v4
Xg.49218053G>ACA2693707895CACNA1Fc.2929-48C>T (n.2929-48C>T)
c.2767-48C>T (n.2767-48C>T)
c.2962-48C>T (n.2962-48C>T)
c.196-48C>T (n.196-48C>T)
gnomAD v4
Xg.49218053G>TCA2579607632CACNA1Fc.2929-48C>A (n.2929-48C>A)
c.2767-48C>A (n.2767-48C>A)
c.2962-48C>A (n.2962-48C>A)
c.196-48C>A (n.196-48C>A)
gnomAD v4
Xg.49218053_49218054insACCA2820835534CACNA1Fc.2929-49_2929-48insGT (n.2929-49_2929-48insGT)
c.2767-49_2767-48insGT (n.2767-49_2767-48insGT)
c.2962-49_2962-48insGT (n.2962-49_2962-48insGT)
c.196-49_196-48insGT (n.196-49_196-48insGT)
Xg.49218054T>CCA2693707896CACNA1Fc.2929-49A>G (n.2929-49A>G)
c.2767-49A>G (n.2767-49A>G)
c.2962-49A>G (n.2962-49A>G)
c.196-49A>G (n.196-49A>G)
gnomAD v4
Xg.49218055C>ACA2820835535CACNA1Fc.2929-50G>T (n.2929-50G>T)
c.2767-50G>T (n.2767-50G>T)
c.2962-50G>T (n.2962-50G>T)
c.196-50G>T (n.196-50G>T)
Xg.49218057T>CCA10410577CACNA1Fc.2929-52A>G (n.2929-52A>G)
c.2767-52A>G (n.2767-52A>G)
c.2962-52A>G (n.2962-52A>G)
c.196-52A>G (n.196-52A>G)
dbSNP ExAC gnomAD v2
Xg.49218057T=CA2428540255CACNA1Fc.2929-52A= (n.2929-52A=)
c.2767-52A= (n.2767-52A=)
c.2962-52A= (n.2962-52A=)
c.196-52A= (n.196-52A=)

Number of alleles fetched