Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.49217755_49221080delCA916084263CACNA1Fc.2290_3089+1del
c.2128_2927+1del
c.2323_3122+1del
Xg.49217861G>ACA2693707693CACNA1Fc.3036+37C>T (n.3036+37C>T)
c.2874+37C>T (n.2874+37C>T)
c.3069+37C>T (n.3069+37C>T)
c.303+37C>T (n.303+37C>T)
 gnomAD v4
Xg.49217861G>TCA2693707694CACNA1Fc.3036+37C>A (n.3036+37C>A)
c.2874+37C>A (n.2874+37C>A)
c.3069+37C>A (n.3069+37C>A)
c.303+37C>A (n.303+37C>A)
 gnomAD v4
Xg.49217862A>TCA2738725282CACNA1Fc.3036+36T>A (n.3036+36T>A)
c.2874+36T>A (n.2874+36T>A)
c.3069+36T>A (n.3069+36T>A)
c.303+36T>A (n.303+36T>A)
 dbSNP
Xg.49217865C>ACA2557173332CACNA1Fc.3036+33G>T (n.3036+33G>T)
c.2874+33G>T (n.2874+33G>T)
c.3069+33G>T (n.3069+33G>T)
c.303+33G>T (n.303+33G>T)
Xg.49217865C=CA2428540205CACNA1Fc.3036+33G= (n.3036+33G=)
c.2874+33G= (n.2874+33G=)
c.3069+33G= (n.3069+33G=)
c.303+33G= (n.303+33G=)
Xg.49217865C>GCA2428540206CACNA1Fc.3036+33G>C (n.3036+33G>C)
c.2874+33G>C (n.2874+33G>C)
c.3069+33G>C (n.3069+33G>C)
c.303+33G>C (n.303+33G>C)
 dbSNP
Xg.49217868G>ACA2555356841CACNA1Fc.3036+30C>T (n.3036+30C>T)
c.2874+30C>T (n.2874+30C>T)
c.3069+30C>T (n.3069+30C>T)
c.303+30C>T (n.303+30C>T)
Xg.49217869C>TCA2579607622CACNA1Fc.3036+29G>A (n.3036+29G>A)
c.2874+29G>A (n.2874+29G>A)
c.3069+29G>A (n.3069+29G>A)
c.303+29G>A (n.303+29G>A)
Xg.49217870C=CA2428540207CACNA1Fc.3036+28G= (n.3036+28G=)
c.2874+28G= (n.2874+28G=)
c.3069+28G= (n.3069+28G=)
c.303+28G= (n.303+28G=)
Xg.49217870C>TCA2428540208CACNA1Fc.3036+28G>A (n.3036+28G>A)
c.2874+28G>A (n.2874+28G>A)
c.3069+28G>A (n.3069+28G>A)
c.303+28G>A (n.303+28G>A)
 dbSNP
Xg.49217873G>CCA875950653CACNA1Fc.3036+25C>G (n.3036+25C>G)
c.2874+25C>G (n.2874+25C>G)
c.3069+25C>G (n.3069+25C>G)
c.303+25C>G (n.303+25C>G)
 dbSNP
Xg.49217873G=CA2428540209CACNA1Fc.3036+25C= (n.3036+25C=)
c.2874+25C= (n.2874+25C=)
c.3069+25C= (n.3069+25C=)
c.303+25C= (n.303+25C=)
Xg.49217878C=CA2428540210CACNA1Fc.3036+20G= (n.3036+20G=)
c.2874+20G= (n.2874+20G=)
c.3069+20G= (n.3069+20G=)
c.303+20G= (n.303+20G=)
Xg.49217878C>GCA641531318CACNA1Fc.3036+20G>C (n.3036+20G>C)
c.2874+20G>C (n.2874+20G>C)
c.3069+20G>C (n.3069+20G>C)
c.303+20G>C (n.303+20G>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.49217878C>TCA2693707697CACNA1Fc.3036+20G>A (n.3036+20G>A)
c.2874+20G>A (n.2874+20G>A)
c.3069+20G>A (n.3069+20G>A)
c.303+20G>A (n.303+20G>A)
 gnomAD v4
Xg.49217879C>TCA2693707698CACNA1Fc.3036+19G>A (n.3036+19G>A)
c.2874+19G>A (n.2874+19G>A)
c.3069+19G>A (n.3069+19G>A)
c.303+19G>A (n.303+19G>A)
 gnomAD v4
Xg.49217881T>CCA10410558CACNA1Fc.3036+17A>G (n.3036+17A>G)
c.2874+17A>G (n.2874+17A>G)
c.3069+17A>G (n.3069+17A>G)
c.303+17A>G (n.303+17A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49217881T=CA2428540211CACNA1Fc.3036+17A= (n.3036+17A=)
c.2874+17A= (n.2874+17A=)
c.3069+17A= (n.3069+17A=)
c.303+17A= (n.303+17A=)
Xg.49217882C>TCA2693707702CACNA1Fc.3036+16G>A (n.3036+16G>A)
c.2874+16G>A (n.2874+16G>A)
c.3069+16G>A (n.3069+16G>A)
c.303+16G>A (n.303+16G>A)
 gnomAD v4
Xg.49217887G>ACA2693707704CACNA1Fc.3036+11C>T (n.3036+11C>T)
c.2874+11C>T (n.2874+11C>T)
c.3069+11C>T (n.3069+11C>T)
c.303+11C>T (n.303+11C>T)
 gnomAD v4
Xg.49217888T>CCA2579607623CACNA1Fc.3036+10A>G (n.3036+10A>G)
c.2874+10A>G (n.2874+10A>G)
c.3069+10A>G (n.3069+10A>G)
c.303+10A>G (n.303+10A>G)
Xg.49217889T>CCA2499226765CACNA1Fc.3036+9A>G (n.3036+9A>G)
c.2874+9A>G (n.2874+9A>G)
c.3069+9A>G (n.3069+9A>G)
c.303+9A>G (n.303+9A>G)
 ClinVar dbSNP
Xg.49217889T>GCA2693707706CACNA1Fc.3036+9A>C (n.3036+9A>C)
c.2874+9A>C (n.2874+9A>C)
c.3069+9A>C (n.3069+9A>C)
c.303+9A>C (n.303+9A>C)
 gnomAD v4
Xg.49217891G>TCA2693707707CACNA1Fc.3036+7C>A (n.3036+7C>A)
c.2874+7C>A (n.2874+7C>A)
c.3069+7C>A (n.3069+7C>A)
c.303+7C>A (n.303+7C>A)
 gnomAD v4
Xg.49217892C=CA2428540212CACNA1Fc.3036+6G= (n.3036+6G=)
c.2874+6G= (n.2874+6G=)
c.3069+6G= (n.3069+6G=)
c.303+6G= (n.303+6G=)
Xg.49217892C>TCA2693707709CACNA1Fc.3036+6G>A (n.3036+6G>A)
c.2874+6G>A (n.2874+6G>A)
c.3069+6G>A (n.3069+6G>A)
c.303+6G>A (n.303+6G>A)
 gnomAD v4
Xg.49217892_49217893insTCA2428540213CACNA1Fc.3036+5_3036+6insA (n.3036+5_3036+6insA)
c.2874+5_2874+6insA (n.2874+5_2874+6insA)
c.3069+5_3069+6insA (n.3069+5_3069+6insA)
c.303+5_303+6insA (n.303+5_303+6insA)
 dbSNP
Xg.49217893C>TCA2820835510CACNA1Fc.3036+5G>A (n.3036+5G>A)
c.2874+5G>A (n.2874+5G>A)
c.3069+5G>A (n.3069+5G>A)
c.303+5G>A (n.303+5G>A)
Xg.49217895C>ACA10410559CACNA1Fc.3036+3G>T (n.3036+3G>T)
c.2874+3G>T (n.2874+3G>T)
c.3069+3G>T (n.3069+3G>T)
c.303+3G>T (n.303+3G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49217895C=CA2428540214CACNA1Fc.3036+3G= (n.3036+3G=)
c.2874+3G= (n.2874+3G=)
c.3069+3G= (n.3069+3G=)
c.303+3G= (n.303+3G=)
Xg.49217895C>TCA329140743CACNA1Fc.3036+3G>A (n.3036+3G>A)
c.2874+3G>A (n.2874+3G>A)
c.3069+3G>A (n.3069+3G>A)
c.303+3G>A (n.303+3G>A)
 dbSNP gnomAD v3 gnomAD v4
Xg.49217896A>CCA412964312CACNA1Fc.3036+2T>G (n.3036+2T>G)
c.2874+2T>G (n.2874+2T>G)
c.3069+2T>G (n.3069+2T>G)
c.303+2T>G (n.303+2T>G)
Xg.49217896A>GCA412964313CACNA1Fc.3036+2T>C (n.3036+2T>C)
c.2874+2T>C (n.2874+2T>C)
c.3069+2T>C (n.3069+2T>C)
c.303+2T>C (n.303+2T>C)
Xg.49217896A>TCA412964314CACNA1Fc.3036+2T>A (n.3036+2T>A)
c.2874+2T>A (n.2874+2T>A)
c.3069+2T>A (n.3069+2T>A)
c.303+2T>A (n.303+2T>A)
Xg.49217897C>ACA412964315CACNA1Fc.3036+1G>T (n.3036+1G>T)
c.2874+1G>T (n.2874+1G>T)
c.3069+1G>T (n.3069+1G>T)
c.303+1G>T (n.303+1G>T)
 COSMIC
Xg.49217897C>GCA412964316CACNA1Fc.3036+1G>C (n.3036+1G>C)
c.2874+1G>C (n.2874+1G>C)
c.3069+1G>C (n.3069+1G>C)
c.303+1G>C (n.303+1G>C)
Xg.49217897C>TCA412964317CACNA1Fc.3036+1G>A (n.3036+1G>A)
c.2874+1G>A (n.2874+1G>A)
c.3069+1G>A (n.3069+1G>A)
c.303+1G>A (n.303+1G>A)
 ClinVar
Xg.49217898C>ACA412964318CACNA1Fc.3036G>T (p.Lys1012Asn)
c.2874G>T (p.Lys958Asn)
c.3069G>T (p.Lys1023Asn)
c.303G>T (p.Lys101Asn)
Xg.49217898C>GCA412964319CACNA1Fc.3036G>C (p.Lys1012Asn)
c.2874G>C (p.Lys958Asn)
c.3069G>C (p.Lys1023Asn)
c.303G>C (p.Lys101Asn)
Xg.49217898C>TCA516377398CACNA1Fc.3036G>A (p.Lys1012=)
c.2874G>A (p.Lys958=)
c.3069G>A (p.Lys1023=)
c.303G>A (p.Lys101=)
Xg.49217899T>ACA412964320CACNA1Fc.3035A>T (p.Lys1012Met)
c.2873A>T (p.Lys958Met)
c.3068A>T (p.Lys1023Met)
c.302A>T (p.Lys101Met)
Xg.49217899T>CCA412964321CACNA1Fc.3035A>G (p.Lys1012Arg)
c.2873A>G (p.Lys958Arg)
c.3068A>G (p.Lys1023Arg)
c.302A>G (p.Lys101Arg)
Xg.49217899T>GCA412964322CACNA1Fc.3035A>C (p.Lys1012Thr)
c.2873A>C (p.Lys958Thr)
c.3068A>C (p.Lys1023Thr)
c.302A>C (p.Lys101Thr)
Xg.49217900T>ACA412964324CACNA1Fc.3034A>T (p.Lys1012Ter)
c.2872A>T (p.Lys958Ter)
c.3067A>T (p.Lys1023Ter)
c.301A>T (p.Lys101Ter)
Xg.49217900T>CCA412964325CACNA1Fc.3034A>G (p.Lys1012Glu)
c.2872A>G (p.Lys958Glu)
c.3067A>G (p.Lys1023Glu)
c.301A>G (p.Lys101Glu)
Xg.49217900T>GCA412964323CACNA1Fc.3034A>C (p.Lys1012Gln)
c.2872A>C (p.Lys958Gln)
c.3067A>C (p.Lys1023Gln)
c.301A>C (p.Lys101Gln)
Xg.49217901G>ACA516377399CACNA1Fc.3033C>T (p.Phe1011=)
c.2871C>T (p.Phe957=)
c.3066C>T (p.Phe1022=)
c.300C>T (p.Phe100=)
Xg.49217901G>CCA412964326CACNA1Fc.3033C>G (p.Phe1011Leu)
c.2871C>G (p.Phe957Leu)
c.3066C>G (p.Phe1022Leu)
c.300C>G (p.Phe100Leu)
Xg.49217901G>TCA412964327CACNA1Fc.3033C>A (p.Phe1011Leu)
c.2871C>A (p.Phe957Leu)
c.3066C>A (p.Phe1022Leu)
c.300C>A (p.Phe100Leu)
Xg.49217902A>CCA412964328CACNA1Fc.3032T>G (p.Phe1011Cys)
c.2870T>G (p.Phe957Cys)
c.3065T>G (p.Phe1022Cys)
c.299T>G (p.Phe100Cys)
Xg.49217902A>GCA412964330CACNA1Fc.3032T>C (p.Phe1011Ser)
c.2870T>C (p.Phe957Ser)
c.3065T>C (p.Phe1022Ser)
c.299T>C (p.Phe100Ser)
Xg.49217902A>TCA412964329CACNA1Fc.3032T>A (p.Phe1011Tyr)
c.2870T>A (p.Phe957Tyr)
c.3065T>A (p.Phe1022Tyr)
c.299T>A (p.Phe100Tyr)
Xg.49217903A>CCA412964331CACNA1Fc.3031T>G (p.Phe1011Val)
c.2869T>G (p.Phe957Val)
c.3064T>G (p.Phe1022Val)
c.298T>G (p.Phe100Val)
Xg.49217903A>GCA412964332CACNA1Fc.3031T>C (p.Phe1011Leu)
c.2869T>C (p.Phe957Leu)
c.3064T>C (p.Phe1022Leu)
c.298T>C (p.Phe100Leu)
Xg.49217903A>TCA412964333CACNA1Fc.3031T>A (p.Phe1011Ile)
c.2869T>A (p.Phe957Ile)
c.3064T>A (p.Phe1022Ile)
c.298T>A (p.Phe100Ile)
Xg.49217904G>ACA516377401CACNA1Fc.3030C>T (p.Leu1010=)
c.2868C>T (p.Leu956=)
c.3063C>T (p.Leu1021=)
c.297C>T (p.Leu99=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.49217904G>CCA516377402CACNA1Fc.3030C>G (p.Leu1010=)
c.2868C>G (p.Leu956=)
c.3063C>G (p.Leu1021=)
c.297C>G (p.Leu99=)
Xg.49217904G=CA2428540215CACNA1Fc.3030C= (p.Leu1010=)
c.2868C= (p.Leu956=)
c.3063C= (p.Leu1021=)
c.297C= (p.Leu99=)
Xg.49217904G>TCA516377400CACNA1Fc.3030C>A (p.Leu1010=)
c.2868C>A (p.Leu956=)
c.3063C>A (p.Leu1021=)
c.297C>A (p.Leu99=)
Xg.49217905A>CCA412964334CACNA1Fc.3029T>G (p.Leu1010Arg)
c.2867T>G (p.Leu956Arg)
c.3062T>G (p.Leu1021Arg)
c.296T>G (p.Leu99Arg)
Xg.49217905A>GCA412964335CACNA1Fc.3029T>C (p.Leu1010Pro)
c.2867T>C (p.Leu956Pro)
c.3062T>C (p.Leu1021Pro)
c.296T>C (p.Leu99Pro)
Xg.49217905A>TCA412964336CACNA1Fc.3029T>A (p.Leu1010His)
c.2867T>A (p.Leu956His)
c.3062T>A (p.Leu1021His)
c.296T>A (p.Leu99His)
Xg.49217906G>ACA412964337CACNA1Fc.3028C>T (p.Leu1010Phe)
c.2866C>T (p.Leu956Phe)
c.3061C>T (p.Leu1021Phe)
c.295C>T (p.Leu99Phe)
Xg.49217906G>CCA412964338CACNA1Fc.3028C>G (p.Leu1010Val)
c.2866C>G (p.Leu956Val)
c.3061C>G (p.Leu1021Val)
c.295C>G (p.Leu99Val)
Xg.49217906G>TCA412964339CACNA1Fc.3028C>A (p.Leu1010Ile)
c.2866C>A (p.Leu956Ile)
c.3061C>A (p.Leu1021Ile)
c.295C>A (p.Leu99Ile)
 gnomAD v4
Xg.49217907C>ACA412964340CACNA1Fc.3027G>T (p.Gln1009His)
c.2865G>T (p.Gln955His)
c.3060G>T (p.Gln1020His)
c.294G>T (p.Gln98His)
Xg.49217907C>GCA412964341CACNA1Fc.3027G>C (p.Gln1009His)
c.2865G>C (p.Gln955His)
c.3060G>C (p.Gln1020His)
c.294G>C (p.Gln98His)
Xg.49217907C>TCA516377403CACNA1Fc.3027G>A (p.Gln1009=)
c.2865G>A (p.Gln955=)
c.3060G>A (p.Gln1020=)
c.294G>A (p.Gln98=)
Xg.49217908T>ACA412964344CACNA1Fc.3026A>T (p.Gln1009Leu)
c.2864A>T (p.Gln955Leu)
c.3059A>T (p.Gln1020Leu)
c.293A>T (p.Gln98Leu)
Xg.49217908T>CCA412964343CACNA1Fc.3026A>G (p.Gln1009Arg)
c.2864A>G (p.Gln955Arg)
c.3059A>G (p.Gln1020Arg)
c.293A>G (p.Gln98Arg)
Xg.49217908T>GCA412964342CACNA1Fc.3026A>C (p.Gln1009Pro)
c.2864A>C (p.Gln955Pro)
c.3059A>C (p.Gln1020Pro)
c.293A>C (p.Gln98Pro)
Xg.49217909G>ACA412964345CACNA1Fc.3025C>T (p.Gln1009Ter)
c.2863C>T (p.Gln955Ter)
c.3058C>T (p.Gln1020Ter)
c.292C>T (p.Gln98Ter)
Xg.49217909G>CCA412964346CACNA1Fc.3025C>G (p.Gln1009Glu)
c.2863C>G (p.Gln955Glu)
c.3058C>G (p.Gln1020Glu)
c.292C>G (p.Gln98Glu)
Xg.49217909G=CA2428540216CACNA1Fc.3025C= (p.Gln1009=)
c.2863C= (p.Gln955=)
c.3058C= (p.Gln1020=)
c.292C= (p.Gln98=)
Xg.49217909G>TCA10410560CACNA1Fc.3025C>A (p.Gln1009Lys)
c.2863C>A (p.Gln955Lys)
c.3058C>A (p.Gln1020Lys)
c.292C>A (p.Gln98Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49217910C>ACA516377404CACNA1Fc.3024G>T (p.Val1008=)
c.2862G>T (p.Val954=)
c.3057G>T (p.Val1019=)
c.291G>T (p.Val97=)
Xg.49217910C=CA2428540217CACNA1Fc.3024G= (p.Val1008=)
c.2862G= (p.Val954=)
c.3057G= (p.Val1019=)
c.291G= (p.Val97=)
Xg.49217910C>GCA516377405CACNA1Fc.3024G>C (p.Val1008=)
c.2862G>C (p.Val954=)
c.3057G>C (p.Val1019=)
c.291G>C (p.Val97=)
Xg.49217910C>TCA516377406CACNA1Fc.3024G>A (p.Val1008=)
c.2862G>A (p.Val954=)
c.3057G>A (p.Val1019=)
c.291G>A (p.Val97=)
 dbSNP gnomAD v3 gnomAD v4
Xg.49217911A>CCA412964347CACNA1Fc.3023T>G (p.Val1008Gly)
c.2861T>G (p.Val954Gly)
c.3056T>G (p.Val1019Gly)
c.290T>G (p.Val97Gly)
Xg.49217911A>GCA412964348CACNA1Fc.3023T>C (p.Val1008Ala)
c.2861T>C (p.Val954Ala)
c.3056T>C (p.Val1019Ala)
c.290T>C (p.Val97Ala)
 COSMIC
Xg.49217911A>TCA412964349CACNA1Fc.3023T>A (p.Val1008Glu)
c.2861T>A (p.Val954Glu)
c.3056T>A (p.Val1019Glu)
c.290T>A (p.Val97Glu)
Xg.49217912C>ACA412964350CACNA1Fc.3022G>T (p.Val1008Leu)
c.2860G>T (p.Val954Leu)
c.3055G>T (p.Val1019Leu)
c.289G>T (p.Val97Leu)
Xg.49217912C>GCA412964351CACNA1Fc.3022G>C (p.Val1008Leu)
c.2860G>C (p.Val954Leu)
c.3055G>C (p.Val1019Leu)
c.289G>C (p.Val97Leu)
Xg.49217912C>TCA412964352CACNA1Fc.3022G>A (p.Val1008Met)
c.2860G>A (p.Val954Met)
c.3055G>A (p.Val1019Met)
c.289G>A (p.Val97Met)
 gnomAD v4
Xg.49217913C>ACA516377407CACNA1Fc.3021G>T (p.Gly1007=)
c.2859G>T (p.Gly953=)
c.3054G>T (p.Gly1018=)
c.288G>T (p.Gly96=)
 dbSNP gnomAD v2 gnomAD v4
Xg.49217913C=CA2428540218CACNA1Fc.3021G= (p.Gly1007=)
c.2859G= (p.Gly953=)
c.3054G= (p.Gly1018=)
c.288G= (p.Gly96=)
Xg.49217913C>GCA516377408CACNA1Fc.3021G>C (p.Gly1007=)
c.2859G>C (p.Gly953=)
c.3054G>C (p.Gly1018=)
c.288G>C (p.Gly96=)
Xg.49217913C>TCA516377409CACNA1Fc.3021G>A (p.Gly1007=)
c.2859G>A (p.Gly953=)
c.3054G>A (p.Gly1018=)
c.288G>A (p.Gly96=)
Xg.49217914C>ACA412964353CACNA1Fc.3020G>T (p.Gly1007Val)
c.2858G>T (p.Gly953Val)
c.3053G>T (p.Gly1018Val)
c.287G>T (p.Gly96Val)
 COSMIC
Xg.49217914C=CA2428540219CACNA1Fc.3020G= (p.Gly1007=)
c.2858G= (p.Gly953=)
c.3053G= (p.Gly1018=)
c.287G= (p.Gly96=)
Xg.49217914C>GCA412964354CACNA1Fc.3020G>C (p.Gly1007Ala)
c.2858G>C (p.Gly953Ala)
c.3053G>C (p.Gly1018Ala)
c.287G>C (p.Gly96Ala)
Xg.49217914C>TCA16621427CACNA1Fc.3020G>A (p.Gly1007Glu)
c.2858G>A (p.Gly953Glu)
c.3053G>A (p.Gly1018Glu)
c.287G>A (p.Gly96Glu)
 ClinVar dbSNP
Xg.49217915C>ACA412964357CACNA1Fc.3019G>T (p.Gly1007Trp)
c.2857G>T (p.Gly953Trp)
c.3052G>T (p.Gly1018Trp)
c.286G>T (p.Gly96Trp)
Xg.49217915C=CA2428540220CACNA1Fc.3019G= (p.Gly1007=)
c.2857G= (p.Gly953=)
c.3052G= (p.Gly1018=)
c.286G= (p.Gly96=)
Xg.49217915C>GCA412964356CACNA1Fc.3019G>C (p.Gly1007Arg)
c.2857G>C (p.Gly953Arg)
c.3052G>C (p.Gly1018Arg)
c.286G>C (p.Gly96Arg)
Xg.49217915C>TCA412964355CACNA1Fc.3019G>A (p.Gly1007Arg)
c.2857G>A (p.Gly953Arg)
c.3052G>A (p.Gly1018Arg)
c.286G>A (p.Gly96Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.49217916G>ACA516377410CACNA1Fc.3018C>T (p.Ile1006=)
c.2856C>T (p.Ile952=)
c.3051C>T (p.Ile1017=)
c.285C>T (p.Ile95=)
 dbSNP gnomAD v2 gnomAD v4
Xg.49217916G>CCA412964358CACNA1Fc.3018C>G (p.Ile1006Met)
c.2856C>G (p.Ile952Met)
c.3051C>G (p.Ile1017Met)
c.285C>G (p.Ile95Met)
Xg.49217916G=CA2428540221CACNA1Fc.3018C= (p.Ile1006=)
c.2856C= (p.Ile952=)
c.3051C= (p.Ile1017=)
c.285C= (p.Ile95=)
Xg.49217916G>TCA516377411CACNA1Fc.3018C>A (p.Ile1006=)
c.2856C>A (p.Ile952=)
c.3051C>A (p.Ile1017=)
c.285C>A (p.Ile95=)
 gnomAD v4
Xg.49217917A>CCA412964359CACNA1Fc.3017T>G (p.Ile1006Ser)
c.2855T>G (p.Ile952Ser)
c.3050T>G (p.Ile1017Ser)
c.284T>G (p.Ile95Ser)
Xg.49217917A>GCA412964360CACNA1Fc.3017T>C (p.Ile1006Thr)
c.2855T>C (p.Ile952Thr)
c.3050T>C (p.Ile1017Thr)
c.284T>C (p.Ile95Thr)
Xg.49217917A>TCA412964361CACNA1Fc.3017T>A (p.Ile1006Asn)
c.2855T>A (p.Ile952Asn)
c.3050T>A (p.Ile1017Asn)
c.284T>A (p.Ile95Asn)
Xg.49217918T>ACA412964362CACNA1Fc.3016A>T (p.Ile1006Phe)
c.2854A>T (p.Ile952Phe)
c.3049A>T (p.Ile1017Phe)
c.283A>T (p.Ile95Phe)
 dbSNP
Xg.49217918T>CCA329140754CACNA1Fc.3016A>G (p.Ile1006Val)
c.2854A>G (p.Ile952Val)
c.3049A>G (p.Ile1017Val)
c.283A>G (p.Ile95Val)
 ClinVar dbSNP
Xg.49217918T>GCA412964363CACNA1Fc.3016A>C (p.Ile1006Leu)
c.2854A>C (p.Ile952Leu)
c.3049A>C (p.Ile1017Leu)
c.283A>C (p.Ile95Leu)
Xg.49217918T=CA2428540222CACNA1Fc.3016A= (p.Ile1006=)
c.2854A= (p.Ile952=)
c.3049A= (p.Ile1017=)
c.283A= (p.Ile95=)
Xg.49217919G>ACA516377412CACNA1Fc.3015C>T (p.Cys1005=)
c.2853C>T (p.Cys951=)
c.3048C>T (p.Cys1016=)
c.282C>T (p.Cys94=)
Xg.49217919G>CCA412964365CACNA1Fc.3015C>G (p.Cys1005Trp)
c.2853C>G (p.Cys951Trp)
c.3048C>G (p.Cys1016Trp)
c.282C>G (p.Cys94Trp)
Xg.49217919G>TCA412964364CACNA1Fc.3015C>A (p.Cys1005Ter)
c.2853C>A (p.Cys951Ter)
c.3048C>A (p.Cys1016Ter)
c.282C>A (p.Cys94Ter)
Xg.49217920C>ACA412964366CACNA1Fc.3014G>T (p.Cys1005Phe)
c.2852G>T (p.Cys951Phe)
c.3047G>T (p.Cys1016Phe)
c.281G>T (p.Cys94Phe)
Xg.49217920C>GCA412964367CACNA1Fc.3014G>C (p.Cys1005Ser)
c.2852G>C (p.Cys951Ser)
c.3047G>C (p.Cys1016Ser)
c.281G>C (p.Cys94Ser)
Xg.49217920C>TCA412964368CACNA1Fc.3014G>A (p.Cys1005Tyr)
c.2852G>A (p.Cys951Tyr)
c.3047G>A (p.Cys1016Tyr)
c.281G>A (p.Cys94Tyr)
Xg.49217921A>CCA412964369CACNA1Fc.3013T>G (p.Cys1005Gly)
c.2851T>G (p.Cys951Gly)
c.3046T>G (p.Cys1016Gly)
c.280T>G (p.Cys94Gly)
Xg.49217921A>GCA412964370CACNA1Fc.3013T>C (p.Cys1005Arg)
c.2851T>C (p.Cys951Arg)
c.3046T>C (p.Cys1016Arg)
c.280T>C (p.Cys94Arg)
Xg.49217921A>TCA412964371CACNA1Fc.3013T>A (p.Cys1005Ser)
c.2851T>A (p.Cys951Ser)
c.3046T>A (p.Cys1016Ser)
c.280T>A (p.Cys94Ser)
Xg.49217922G>ACA516377413CACNA1Fc.3012C>T (p.Ala1004=)
c.2850C>T (p.Ala950=)
c.3045C>T (p.Ala1015=)
c.279C>T (p.Ala93=)
Xg.49217922G>CCA516377414CACNA1Fc.3012C>G (p.Ala1004=)
c.2850C>G (p.Ala950=)
c.3045C>G (p.Ala1015=)
c.279C>G (p.Ala93=)
 gnomAD v4
Xg.49217922G>TCA516377415CACNA1Fc.3012C>A (p.Ala1004=)
c.2850C>A (p.Ala950=)
c.3045C>A (p.Ala1015=)
c.279C>A (p.Ala93=)
Xg.49217923G>ACA412964372CACNA1Fc.3011C>T (p.Ala1004Val)
c.2849C>T (p.Ala950Val)
c.3044C>T (p.Ala1015Val)
c.278C>T (p.Ala93Val)
Xg.49217923G>CCA412964374CACNA1Fc.3011C>G (p.Ala1004Gly)
c.2849C>G (p.Ala950Gly)
c.3044C>G (p.Ala1015Gly)
c.278C>G (p.Ala93Gly)
Xg.49217923G>TCA412964373CACNA1Fc.3011C>A (p.Ala1004Asp)
c.2849C>A (p.Ala950Asp)
c.3044C>A (p.Ala1015Asp)
c.278C>A (p.Ala93Asp)
Xg.49217924C>ACA412964375CACNA1Fc.3010G>T (p.Ala1004Ser)
c.2848G>T (p.Ala950Ser)
c.3043G>T (p.Ala1015Ser)
c.277G>T (p.Ala93Ser)
Xg.49217924C=CA2428540223CACNA1Fc.3010G= (p.Ala1004=)
c.2848G= (p.Ala950=)
c.3043G= (p.Ala1015=)
c.277G= (p.Ala93=)
Xg.49217924C>GCA412964376CACNA1Fc.3010G>C (p.Ala1004Pro)
c.2848G>C (p.Ala950Pro)
c.3043G>C (p.Ala1015Pro)
c.277G>C (p.Ala93Pro)
Xg.49217924C>TCA10410561CACNA1Fc.3010G>A (p.Ala1004Thr)
c.2848G>A (p.Ala950Thr)
c.3043G>A (p.Ala1015Thr)
c.277G>A (p.Ala93Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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)

Number of alleles fetched