Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.49217755_49221080delCA916084263CACNA1Fc.2290_3089+1del
c.2128_2927+1del
c.2323_3122+1del
Xg.49218430G>ACA2579607660CACNA1Fc.2928+25C>T (n.2928+25C>T)
c.2766+25C>T (n.2766+25C>T)
c.2961+25C>T (n.2961+25C>T)
c.195+25C>T (n.195+25C>T)
 gnomAD v4
Xg.49218430G>CCA641531509CACNA1Fc.2928+25C>G (n.2928+25C>G)
c.2766+25C>G (n.2766+25C>G)
c.2961+25C>G (n.2961+25C>G)
c.195+25C>G (n.195+25C>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.49218430G=CA2428540356CACNA1Fc.2928+25C= (n.2928+25C=)
c.2766+25C= (n.2766+25C=)
c.2961+25C= (n.2961+25C=)
c.195+25C= (n.195+25C=)
Xg.49218431T>CCA2693708699CACNA1Fc.2928+24A>G (n.2928+24A>G)
c.2766+24A>G (n.2766+24A>G)
c.2961+24A>G (n.2961+24A>G)
c.195+24A>G (n.195+24A>G)
 gnomAD v4
Xg.49218431T>GCA1132997612CACNA1Fc.2928+24A>C (n.2928+24A>C)
c.2766+24A>C (n.2766+24A>C)
c.2961+24A>C (n.2961+24A>C)
c.195+24A>C (n.195+24A>C)
 gnomAD v3 gnomAD v4
Xg.49218432G>TCA2579607661CACNA1Fc.2928+23C>A (n.2928+23C>A)
c.2766+23C>A (n.2766+23C>A)
c.2961+23C>A (n.2961+23C>A)
c.195+23C>A (n.195+23C>A)
 gnomAD v4
Xg.49218434delCA2693708711CACNA1Fc.2928+23del (n.2928+23del)
c.2766+23del (n.2766+23del)
c.2961+23del (n.2961+23del)
c.195+23del (n.195+23del)
 gnomAD v4
Xg.49218433G>ACA329140968CACNA1Fc.2928+22C>T (n.2928+22C>T)
c.2766+22C>T (n.2766+22C>T)
c.2961+22C>T (n.2961+22C>T)
c.195+22C>T (n.195+22C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.49218433G=CA2428540357CACNA1Fc.2928+22C= (n.2928+22C=)
c.2766+22C= (n.2766+22C=)
c.2961+22C= (n.2961+22C=)
c.195+22C= (n.195+22C=)
Xg.49218434G>CCA2693708724CACNA1Fc.2928+21C>G (n.2928+21C>G)
c.2766+21C>G (n.2766+21C>G)
c.2961+21C>G (n.2961+21C>G)
c.195+21C>G (n.195+21C>G)
 gnomAD v4
Xg.49218434G>TCA2579607662CACNA1Fc.2928+21C>A (n.2928+21C>A)
c.2766+21C>A (n.2766+21C>A)
c.2961+21C>A (n.2961+21C>A)
c.195+21C>A (n.195+21C>A)
 gnomAD v4
Xg.49218435T>ACA2693708729CACNA1Fc.2928+20A>T (n.2928+20A>T)
c.2766+20A>T (n.2766+20A>T)
c.2961+20A>T (n.2961+20A>T)
c.195+20A>T (n.195+20A>T)
 gnomAD v4
Xg.49218435T>GCA1132997614CACNA1Fc.2928+20A>C (n.2928+20A>C)
c.2766+20A>C (n.2766+20A>C)
c.2961+20A>C (n.2961+20A>C)
c.195+20A>C (n.195+20A>C)
 gnomAD v3 gnomAD v4
Xg.49218436T>GCA641531511CACNA1Fc.2928+19A>C (n.2928+19A>C)
c.2766+19A>C (n.2766+19A>C)
c.2961+19A>C (n.2961+19A>C)
c.195+19A>C (n.195+19A>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.49218436T=CA2428540358CACNA1Fc.2928+19A= (n.2928+19A=)
c.2766+19A= (n.2766+19A=)
c.2961+19A= (n.2961+19A=)
c.195+19A= (n.195+19A=)
Xg.49218437_49218441delCA2693708735CACNA1Fc.2928+15_2928+19del (n.2928+15_2928+19del)
c.2766+15_2766+19del (n.2766+15_2766+19del)
c.2961+15_2961+19del (n.2961+15_2961+19del)
c.195+15_195+19del (n.195+15_195+19del)
 gnomAD v4
Xg.49218437T>GCA1132997615CACNA1Fc.2928+18A>C (n.2928+18A>C)
c.2766+18A>C (n.2766+18A>C)
c.2961+18A>C (n.2961+18A>C)
c.195+18A>C (n.195+18A>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.49218438G>ACA2693708752CACNA1Fc.2928+17C>T (n.2928+17C>T)
c.2766+17C>T (n.2766+17C>T)
c.2961+17C>T (n.2961+17C>T)
c.195+17C>T (n.195+17C>T)
 gnomAD v4
Xg.49218438G>TCA658000936CACNA1Fc.2928+17C>A (n.2928+17C>A)
c.2766+17C>A (n.2766+17C>A)
c.2961+17C>A (n.2961+17C>A)
c.195+17C>A (n.195+17C>A)
 gnomAD v4 COSMIC
Xg.49218447_49218451delCA2579607663CACNA1Fc.2928+13_2928+17del (n.2928+13_2928+17del)
c.2766+13_2766+17del (n.2766+13_2766+17del)
c.2961+13_2961+17del (n.2961+13_2961+17del)
c.195+13_195+17del (n.195+13_195+17del)
 gnomAD v4
Xg.49218439G>ACA2693708758CACNA1Fc.2928+16C>T (n.2928+16C>T)
c.2766+16C>T (n.2766+16C>T)
c.2961+16C>T (n.2961+16C>T)
c.195+16C>T (n.195+16C>T)
 gnomAD v4
Xg.49218439G>TCA2579607664CACNA1Fc.2928+16C>A (n.2928+16C>A)
c.2766+16C>A (n.2766+16C>A)
c.2961+16C>A (n.2961+16C>A)
c.195+16C>A (n.195+16C>A)
 gnomAD v4
Xg.49218440G>TCA2693708764CACNA1Fc.2928+15C>A (n.2928+15C>A)
c.2766+15C>A (n.2766+15C>A)
c.2961+15C>A (n.2961+15C>A)
c.195+15C>A (n.195+15C>A)
 gnomAD v4
Xg.49218441T>GCA1132997617CACNA1Fc.2928+14A>C (n.2928+14A>C)
c.2766+14A>C (n.2766+14A>C)
c.2961+14A>C (n.2961+14A>C)
c.195+14A>C (n.195+14A>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.49218441T=CA2428540359CACNA1Fc.2928+14A= (n.2928+14A=)
c.2766+14A= (n.2766+14A=)
c.2961+14A= (n.2961+14A=)
c.195+14A= (n.195+14A=)
Xg.49218442G>ACA329140974CACNA1Fc.2928+13C>T (n.2928+13C>T)
c.2766+13C>T (n.2766+13C>T)
c.2961+13C>T (n.2961+13C>T)
c.195+13C>T (n.195+13C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218442G>CCA641531512CACNA1Fc.2928+13C>G (n.2928+13C>G)
c.2766+13C>G (n.2766+13C>G)
c.2961+13C>G (n.2961+13C>G)
c.195+13C>G (n.195+13C>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.49218442G=CA2428540360CACNA1Fc.2928+13C= (n.2928+13C=)
c.2766+13C= (n.2766+13C=)
c.2961+13C= (n.2961+13C=)
c.195+13C= (n.195+13C=)
Xg.49218442G>TCA2579607665CACNA1Fc.2928+13C>A (n.2928+13C>A)
c.2766+13C>A (n.2766+13C>A)
c.2961+13C>A (n.2961+13C>A)
c.195+13C>A (n.195+13C>A)
Xg.49218443G>ACA2693708772CACNA1Fc.2928+12C>T (n.2928+12C>T)
c.2766+12C>T (n.2766+12C>T)
c.2961+12C>T (n.2961+12C>T)
c.195+12C>T (n.195+12C>T)
 gnomAD v4
Xg.49218443G>TCA2579607666CACNA1Fc.2928+12C>A (n.2928+12C>A)
c.2766+12C>A (n.2766+12C>A)
c.2961+12C>A (n.2961+12C>A)
c.195+12C>A (n.195+12C>A)
 gnomAD v4
Xg.49218444G>ACA2693708773CACNA1Fc.2928+11C>T (n.2928+11C>T)
c.2766+11C>T (n.2766+11C>T)
c.2961+11C>T (n.2961+11C>T)
c.195+11C>T (n.195+11C>T)
 gnomAD v4
Xg.49218444G>CCA2693708774CACNA1Fc.2928+11C>G (n.2928+11C>G)
c.2766+11C>G (n.2766+11C>G)
c.2961+11C>G (n.2961+11C>G)
c.195+11C>G (n.195+11C>G)
 gnomAD v4
Xg.49218444G>TCA2693708775CACNA1Fc.2928+11C>A (n.2928+11C>A)
c.2766+11C>A (n.2766+11C>A)
c.2961+11C>A (n.2961+11C>A)
c.195+11C>A (n.195+11C>A)
 gnomAD v4
Xg.49218445G>ACA641531514CACNA1Fc.2928+10C>T (n.2928+10C>T)
c.2766+10C>T (n.2766+10C>T)
c.2961+10C>T (n.2961+10C>T)
c.195+10C>T (n.195+10C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.49218445G=CA2428540361CACNA1Fc.2928+10C= (n.2928+10C=)
c.2766+10C= (n.2766+10C=)
c.2961+10C= (n.2961+10C=)
c.195+10C= (n.195+10C=)
Xg.49218445G>TCA10410581CACNA1Fc.2928+10C>A (n.2928+10C>A)
c.2766+10C>A (n.2766+10C>A)
c.2961+10C>A (n.2961+10C>A)
c.195+10C>A (n.195+10C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218446delCA2579607667CACNA1Fc.2928+9del (n.2928+9del)
c.2766+9del (n.2766+9del)
c.2961+9del (n.2961+9del)
c.195+9del (n.195+9del)
Xg.49218446T>ACA2540522254CACNA1Fc.2928+9A>T (n.2928+9A>T)
c.2766+9A>T (n.2766+9A>T)
c.2961+9A>T (n.2961+9A>T)
c.195+9A>T (n.195+9A>T)
Xg.49218446T>GCA641531516CACNA1Fc.2928+9A>C (n.2928+9A>C)
c.2766+9A>C (n.2766+9A>C)
c.2961+9A>C (n.2961+9A>C)
c.195+9A>C (n.195+9A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218446T=CA2428540362CACNA1Fc.2928+9A= (n.2928+9A=)
c.2766+9A= (n.2766+9A=)
c.2961+9A= (n.2961+9A=)
c.195+9A= (n.195+9A=)
Xg.49218447G>ACA2693708786CACNA1Fc.2928+8C>T (n.2928+8C>T)
c.2766+8C>T (n.2766+8C>T)
c.2961+8C>T (n.2961+8C>T)
c.195+8C>T (n.195+8C>T)
 gnomAD v4
Xg.49218447G>TCA2579607668CACNA1Fc.2928+8C>A (n.2928+8C>A)
c.2766+8C>A (n.2766+8C>A)
c.2961+8C>A (n.2961+8C>A)
c.195+8C>A (n.195+8C>A)
 gnomAD v4
Xg.49218448G>ACA2693708789CACNA1Fc.2928+7C>T (n.2928+7C>T)
c.2766+7C>T (n.2766+7C>T)
c.2961+7C>T (n.2961+7C>T)
c.195+7C>T (n.195+7C>T)
 gnomAD v4
Xg.49218448G>TCA2563287552CACNA1Fc.2928+7C>A (n.2928+7C>A)
c.2766+7C>A (n.2766+7C>A)
c.2961+7C>A (n.2961+7C>A)
c.195+7C>A (n.195+7C>A)
 gnomAD v4
Xg.49218449G>ACA641531517CACNA1Fc.2928+6C>T (n.2928+6C>T)
c.2766+6C>T (n.2766+6C>T)
c.2961+6C>T (n.2961+6C>T)
c.195+6C>T (n.195+6C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.49218449G=CA2428540363CACNA1Fc.2928+6C= (n.2928+6C=)
c.2766+6C= (n.2766+6C=)
c.2961+6C= (n.2961+6C=)
c.195+6C= (n.195+6C=)
Xg.49218449G>TCA2693708793CACNA1Fc.2928+6C>A (n.2928+6C>A)
c.2766+6C>A (n.2766+6C>A)
c.2961+6C>A (n.2961+6C>A)
c.195+6C>A (n.195+6C>A)
 gnomAD v4
Xg.49218450G>ACA2499226766CACNA1Fc.2928+5C>T (n.2928+5C>T)
c.2766+5C>T (n.2766+5C>T)
c.2961+5C>T (n.2961+5C>T)
c.195+5C>T (n.195+5C>T)
 ClinVar dbSNP gnomAD v4
Xg.49218450G>TCA2693708798CACNA1Fc.2928+5C>A (n.2928+5C>A)
c.2766+5C>A (n.2766+5C>A)
c.2961+5C>A (n.2961+5C>A)
c.195+5C>A (n.195+5C>A)
 gnomAD v4
Xg.49218452T>ACA10410582CACNA1Fc.2928+3A>T (n.2928+3A>T)
c.2766+3A>T (n.2766+3A>T)
c.2961+3A>T (n.2961+3A>T)
c.195+3A>T (n.195+3A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49218452T>CCA329140981CACNA1Fc.2928+3A>G (n.2928+3A>G)
c.2766+3A>G (n.2766+3A>G)
c.2961+3A>G (n.2961+3A>G)
c.195+3A>G (n.195+3A>G)
 ClinVar dbSNP gnomAD v4
Xg.49218452T=CA2428540364CACNA1Fc.2928+3A= (n.2928+3A=)
c.2766+3A= (n.2766+3A=)
c.2961+3A= (n.2961+3A=)
c.195+3A= (n.195+3A=)
Xg.49218453A>CCA412964563CACNA1Fc.2928+2T>G (n.2928+2T>G)
c.2766+2T>G (n.2766+2T>G)
c.2961+2T>G (n.2961+2T>G)
c.195+2T>G (n.195+2T>G)
Xg.49218453A>GCA412964564CACNA1Fc.2928+2T>C (n.2928+2T>C)
c.2766+2T>C (n.2766+2T>C)
c.2961+2T>C (n.2961+2T>C)
c.195+2T>C (n.195+2T>C)
 gnomAD v4
Xg.49218453A>TCA412964565CACNA1Fc.2928+2T>A (n.2928+2T>A)
c.2766+2T>A (n.2766+2T>A)
c.2961+2T>A (n.2961+2T>A)
c.195+2T>A (n.195+2T>A)
 gnomAD v4
Xg.49218454C>ACA412964566CACNA1Fc.2928+1G>T (n.2928+1G>T)
c.2766+1G>T (n.2766+1G>T)
c.2961+1G>T (n.2961+1G>T)
c.195+1G>T (n.195+1G>T)
Xg.49218454C>GCA412964567CACNA1Fc.2928+1G>C (n.2928+1G>C)
c.2766+1G>C (n.2766+1G>C)
c.2961+1G>C (n.2961+1G>C)
c.195+1G>C (n.195+1G>C)
Xg.49218454C>TCA412964568CACNA1Fc.2928+1G>A (n.2928+1G>A)
c.2766+1G>A (n.2766+1G>A)
c.2961+1G>A (n.2961+1G>A)
c.195+1G>A (n.195+1G>A)
 ClinVar dbSNP gnomAD v4
Xg.49218455C>ACA412964569CACNA1Fc.2928G>T (p.Lys976Asn)
c.2766G>T (p.Lys922Asn)
c.2961G>T (p.Lys987Asn)
c.195G>T (p.Lys65Asn)
Xg.49218455C=CA2428540365CACNA1Fc.2928G= (p.Lys976=)
c.2766G= (p.Lys922=)
c.2961G= (p.Lys987=)
c.195G= (p.Lys65=)
Xg.49218455C>GCA412964570CACNA1Fc.2928G>C (p.Lys976Asn)
c.2766G>C (p.Lys922Asn)
c.2961G>C (p.Lys987Asn)
c.195G>C (p.Lys65Asn)
Xg.49218455C>TCA516377469CACNA1Fc.2928G>A (p.Lys976=)
c.2766G>A (p.Lys922=)
c.2961G>A (p.Lys987=)
c.195G>A (p.Lys65=)
 dbSNP gnomAD v3 gnomAD v4
Xg.49218456T>ACA412964571CACNA1Fc.2927A>T (p.Lys976Met)
c.2765A>T (p.Lys922Met)
c.2960A>T (p.Lys987Met)
c.194A>T (p.Lys65Met)
 gnomAD v4
Xg.49218456T>CCA412964572CACNA1Fc.2927A>G (p.Lys976Arg)
c.2765A>G (p.Lys922Arg)
c.2960A>G (p.Lys987Arg)
c.194A>G (p.Lys65Arg)
 gnomAD v4
Xg.49218456T>GCA412964573CACNA1Fc.2927A>C (p.Lys976Thr)
c.2765A>C (p.Lys922Thr)
c.2960A>C (p.Lys987Thr)
c.194A>C (p.Lys65Thr)
 gnomAD v4
Xg.49218457T>ACA412964576CACNA1Fc.2926A>T (p.Lys976Ter)
c.2764A>T (p.Lys922Ter)
c.2959A>T (p.Lys987Ter)
c.193A>T (p.Lys65Ter)
Xg.49218457T>CCA412964574CACNA1Fc.2926A>G (p.Lys976Glu)
c.2764A>G (p.Lys922Glu)
c.2959A>G (p.Lys987Glu)
c.193A>G (p.Lys65Glu)
 COSMIC
Xg.49218457T>GCA412964575CACNA1Fc.2926A>C (p.Lys976Gln)
c.2764A>C (p.Lys922Gln)
c.2959A>C (p.Lys987Gln)
c.193A>C (p.Lys65Gln)
 dbSNP gnomAD v3 gnomAD v4
Xg.49218457T=CA2428540366CACNA1Fc.2926A= (p.Lys976=)
c.2764A= (p.Lys922=)
c.2959A= (p.Lys987=)
c.193A= (p.Lys65=)
Xg.49218458G>ACA516377470CACNA1Fc.2925C>T (p.Leu975=)
c.2763C>T (p.Leu921=)
c.2958C>T (p.Leu986=)
c.192C>T (p.Leu64=)
Xg.49218458G>CCA516377471CACNA1Fc.2925C>G (p.Leu975=)
c.2763C>G (p.Leu921=)
c.2958C>G (p.Leu986=)
c.192C>G (p.Leu64=)
Xg.49218458G>TCA516377472CACNA1Fc.2925C>A (p.Leu975=)
c.2763C>A (p.Leu921=)
c.2958C>A (p.Leu986=)
c.192C>A (p.Leu64=)
 gnomAD v4
Xg.49218459A>CCA412964577CACNA1Fc.2924T>G (p.Leu975Arg)
c.2762T>G (p.Leu921Arg)
c.2957T>G (p.Leu986Arg)
c.191T>G (p.Leu64Arg)
Xg.49218459A>GCA412964578CACNA1Fc.2924T>C (p.Leu975Pro)
c.2762T>C (p.Leu921Pro)
c.2957T>C (p.Leu986Pro)
c.191T>C (p.Leu64Pro)
Xg.49218459A>TCA412964579CACNA1Fc.2924T>A (p.Leu975His)
c.2762T>A (p.Leu921His)
c.2957T>A (p.Leu986His)
c.191T>A (p.Leu64His)
Xg.49218460G>ACA412964580CACNA1Fc.2923C>T (p.Leu975Phe)
c.2761C>T (p.Leu921Phe)
c.2956C>T (p.Leu986Phe)
c.190C>T (p.Leu64Phe)
Xg.49218460G>CCA412964581CACNA1Fc.2923C>G (p.Leu975Val)
c.2761C>G (p.Leu921Val)
c.2956C>G (p.Leu986Val)
c.190C>G (p.Leu64Val)
Xg.49218460G>TCA412964582CACNA1Fc.2923C>A (p.Leu975Ile)
c.2761C>A (p.Leu921Ile)
c.2956C>A (p.Leu986Ile)
c.190C>A (p.Leu64Ile)
 gnomAD v4
Xg.49218461T>ACA516377474CACNA1Fc.2922A>T (p.Gly974=)
c.2760A>T (p.Gly920=)
c.2955A>T (p.Gly985=)
c.189A>T (p.Gly63=)
Xg.49218461T>CCA516377475CACNA1Fc.2922A>G (p.Gly974=)
c.2760A>G (p.Gly920=)
c.2955A>G (p.Gly985=)
c.189A>G (p.Gly63=)
Xg.49218461T>GCA516377473CACNA1Fc.2922A>C (p.Gly974=)
c.2760A>C (p.Gly920=)
c.2955A>C (p.Gly985=)
c.189A>C (p.Gly63=)
Xg.49218462C>ACA412964585CACNA1Fc.2921G>T (p.Gly974Val)
c.2759G>T (p.Gly920Val)
c.2954G>T (p.Gly985Val)
c.188G>T (p.Gly63Val)
 gnomAD v4
Xg.49218462C>GCA412964583CACNA1Fc.2921G>C (p.Gly974Ala)
c.2759G>C (p.Gly920Ala)
c.2954G>C (p.Gly985Ala)
c.188G>C (p.Gly63Ala)
Xg.49218462C>TCA412964584CACNA1Fc.2921G>A (p.Gly974Glu)
c.2759G>A (p.Gly920Glu)
c.2954G>A (p.Gly985Glu)
c.188G>A (p.Gly63Glu)
Xg.49218463C>ACA412964586CACNA1Fc.2920G>T (p.Gly974Ter)
c.2758G>T (p.Gly920Ter)
c.2953G>T (p.Gly985Ter)
c.187G>T (p.Gly63Ter)
 gnomAD v4
Xg.49218463C>GCA412964587CACNA1Fc.2920G>C (p.Gly974Arg)
c.2758G>C (p.Gly920Arg)
c.2953G>C (p.Gly985Arg)
c.187G>C (p.Gly63Arg)
Xg.49218463C>TCA412964588CACNA1Fc.2920G>A (p.Gly974Arg)
c.2758G>A (p.Gly920Arg)
c.2953G>A (p.Gly985Arg)
c.187G>A (p.Gly63Arg)
Xg.49218464C>ACA412964589CACNA1Fc.2919G>T (p.Lys973Asn)
c.2757G>T (p.Lys919Asn)
c.2952G>T (p.Lys984Asn)
c.186G>T (p.Lys62Asn)
 gnomAD v4 COSMIC
Xg.49218464C=CA2428540367CACNA1Fc.2919G= (p.Lys973=)
c.2757G= (p.Lys919=)
c.2952G= (p.Lys984=)
c.186G= (p.Lys62=)
Xg.49218464C>GCA412964590CACNA1Fc.2919G>C (p.Lys973Asn)
c.2757G>C (p.Lys919Asn)
c.2952G>C (p.Lys984Asn)
c.186G>C (p.Lys62Asn)
Xg.49218464C>TCA516377476CACNA1Fc.2919G>A (p.Lys973=)
c.2757G>A (p.Lys919=)
c.2952G>A (p.Lys984=)
c.186G>A (p.Lys62=)
 dbSNP gnomAD v4
Xg.49218465T>ACA412964591CACNA1Fc.2918A>T (p.Lys973Met)
c.2756A>T (p.Lys919Met)
c.2951A>T (p.Lys984Met)
c.185A>T (p.Lys62Met)
Xg.49218465T>CCA412964593CACNA1Fc.2918A>G (p.Lys973Arg)
c.2756A>G (p.Lys919Arg)
c.2951A>G (p.Lys984Arg)
c.185A>G (p.Lys62Arg)
Xg.49218465T>GCA412964592CACNA1Fc.2918A>C (p.Lys973Thr)
c.2756A>C (p.Lys919Thr)
c.2951A>C (p.Lys984Thr)
c.185A>C (p.Lys62Thr)
 gnomAD v4
Xg.49218466T>ACA412964594CACNA1Fc.2917A>T (p.Lys973Ter)
c.2755A>T (p.Lys919Ter)
c.2950A>T (p.Lys984Ter)
c.184A>T (p.Lys62Ter)
Xg.49218466T>CCA412964595CACNA1Fc.2917A>G (p.Lys973Glu)
c.2755A>G (p.Lys919Glu)
c.2950A>G (p.Lys984Glu)
c.184A>G (p.Lys62Glu)
Xg.49218466T>GCA412964596CACNA1Fc.2917A>C (p.Lys973Gln)
c.2755A>C (p.Lys919Gln)
c.2950A>C (p.Lys984Gln)
c.184A>C (p.Lys62Gln)
Xg.49218467G>ACA516377477CACNA1Fc.2916C>T (p.Ala972=)
c.2754C>T (p.Ala918=)
c.2949C>T (p.Ala983=)
c.183C>T (p.Ala61=)
 gnomAD v4
Xg.49218467G>CCA516377478CACNA1Fc.2916C>G (p.Ala972=)
c.2754C>G (p.Ala918=)
c.2949C>G (p.Ala983=)
c.183C>G (p.Ala61=)
Xg.49218467G>TCA516377479CACNA1Fc.2916C>A (p.Ala972=)
c.2754C>A (p.Ala918=)
c.2949C>A (p.Ala983=)
c.183C>A (p.Ala61=)
 gnomAD v4
Xg.49218468G>ACA412964597CACNA1Fc.2915C>T (p.Ala972Val)
c.2753C>T (p.Ala918Val)
c.2948C>T (p.Ala983Val)
c.182C>T (p.Ala61Val)
 gnomAD v4
Xg.49218468G>CCA412964598CACNA1Fc.2915C>G (p.Ala972Gly)
c.2753C>G (p.Ala918Gly)
c.2948C>G (p.Ala983Gly)
c.182C>G (p.Ala61Gly)
Xg.49218468G>TCA412964599CACNA1Fc.2915C>A (p.Ala972Asp)
c.2753C>A (p.Ala918Asp)
c.2948C>A (p.Ala983Asp)
c.182C>A (p.Ala61Asp)
 gnomAD v4
Xg.49218469C>ACA412964600CACNA1Fc.2914G>T (p.Ala972Ser)
c.2752G>T (p.Ala918Ser)
c.2947G>T (p.Ala983Ser)
c.181G>T (p.Ala61Ser)
 gnomAD v4
Xg.49218469C=CA2428540368CACNA1Fc.2914G= (p.Ala972=)
c.2752G= (p.Ala918=)
c.2947G= (p.Ala983=)
c.181G= (p.Ala61=)
Xg.49218469C>GCA412964601CACNA1Fc.2914G>C (p.Ala972Pro)
c.2752G>C (p.Ala918Pro)
c.2947G>C (p.Ala983Pro)
c.181G>C (p.Ala61Pro)
Xg.49218469C>TCA412964602CACNA1Fc.2914G>A (p.Ala972Thr)
c.2752G>A (p.Ala918Thr)
c.2947G>A (p.Ala983Thr)
c.181G>A (p.Ala61Thr)
 dbSNP gnomAD v4
Xg.49218470C>ACA412964603CACNA1Fc.2913G>T (p.Arg971Ser)
c.2751G>T (p.Arg917Ser)
c.2946G>T (p.Arg982Ser)
c.180G>T (p.Arg60Ser)
 gnomAD v4
Xg.49218470C=CA2428540369CACNA1Fc.2913G= (p.Arg971=)
c.2751G= (p.Arg917=)
c.2946G= (p.Arg982=)
c.180G= (p.Arg60=)
Xg.49218470C>GCA412964604CACNA1Fc.2913G>C (p.Arg971Ser)
c.2751G>C (p.Arg917Ser)
c.2946G>C (p.Arg982Ser)
c.180G>C (p.Arg60Ser)
Xg.49218470C>TCA516377480CACNA1Fc.2913G>A (p.Arg971=)
c.2751G>A (p.Arg917=)
c.2946G>A (p.Arg982=)
c.180G>A (p.Arg60=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.49218471C>ACA412964605CACNA1Fc.2912G>T (p.Arg971Met)
c.2750G>T (p.Arg917Met)
c.2945G>T (p.Arg982Met)
c.179G>T (p.Arg60Met)
 gnomAD v4
Xg.49218471C>GCA412964607CACNA1Fc.2912G>C (p.Arg971Thr)
c.2750G>C (p.Arg917Thr)
c.2945G>C (p.Arg982Thr)
c.179G>C (p.Arg60Thr)
Xg.49218471C>TCA412964606CACNA1Fc.2912G>A (p.Arg971Lys)
c.2750G>A (p.Arg917Lys)
c.2945G>A (p.Arg982Lys)
c.179G>A (p.Arg60Lys)
 gnomAD v4
Xg.49218472T>ACA412964608CACNA1Fc.2911A>T (p.Arg971Trp)
c.2749A>T (p.Arg917Trp)
c.2944A>T (p.Arg982Trp)
c.178A>T (p.Arg60Trp)
 dbSNP gnomAD v4
Xg.49218472T>CCA412964609CACNA1Fc.2911A>G (p.Arg971Gly)
c.2749A>G (p.Arg917Gly)
c.2944A>G (p.Arg982Gly)
c.178A>G (p.Arg60Gly)
 gnomAD v4
Xg.49218472T>GCA516377481CACNA1Fc.2911A>C (p.Arg971=)
c.2749A>C (p.Arg917=)
c.2944A>C (p.Arg982=)
c.178A>C (p.Arg60=)
 COSMIC COSMIC
Xg.49218472T=CA2428540370CACNA1Fc.2911A= (p.Arg971=)
c.2749A= (p.Arg917=)
c.2944A= (p.Arg982=)
c.178A= (p.Arg60=)
Xg.49218472_49218473insTGACA2428540371CACNA1Fc.2910_2911insTCA (p.Asn970_Arg971insSer)
c.2748_2749insTCA (p.Asn916_Arg917insSer)
c.2943_2944insTCA (p.Asn981_Arg982insSer)
c.177_178insTCA (p.Asn59_Arg60insSer)
 dbSNP
Xg.49218473G>ACA516377482CACNA1Fc.2910C>T (p.Asn970=)
c.2748C>T (p.Asn916=)
c.2943C>T (p.Asn981=)
c.177C>T (p.Asn59=)
 gnomAD v4
Xg.49218473G>CCA412964610CACNA1Fc.2910C>G (p.Asn970Lys)
c.2748C>G (p.Asn916Lys)
c.2943C>G (p.Asn981Lys)
c.177C>G (p.Asn59Lys)
Xg.49218473G>TCA412964611CACNA1Fc.2910C>A (p.Asn970Lys)
c.2748C>A (p.Asn916Lys)
c.2943C>A (p.Asn981Lys)
c.177C>A (p.Asn59Lys)
Xg.49218474T>ACA412964612CACNA1Fc.2909A>T (p.Asn970Ile)
c.2747A>T (p.Asn916Ile)
c.2942A>T (p.Asn981Ile)
c.176A>T (p.Asn59Ile)
Xg.49218474T>CCA412964613CACNA1Fc.2909A>G (p.Asn970Ser)
c.2747A>G (p.Asn916Ser)
c.2942A>G (p.Asn981Ser)
c.176A>G (p.Asn59Ser)
 gnomAD v4
Xg.49218474T>GCA412964614CACNA1Fc.2909A>C (p.Asn970Thr)
c.2747A>C (p.Asn916Thr)
c.2942A>C (p.Asn981Thr)
c.176A>C (p.Asn59Thr)
Xg.49218474T=CA2428540372CACNA1Fc.2909A= (p.Asn970=)
c.2747A= (p.Asn916=)
c.2942A= (p.Asn981=)
c.176A= (p.Asn59=)
Xg.49218475delCA2820835703CACNA1Fc.2909del (p.Asn970ThrfsTer24)
c.2747del (p.Asn916ThrfsTer24)
c.2942del (p.Asn981ThrfsTer24)
c.176del (p.Asn59ThrfsTer24)
Xg.49218474_49218475insCCA2428540374CACNA1Fc.2908_2909insG (p.Asn970ArgfsTer?)
c.2746_2747insG (p.Asn916ArgfsTer?)
c.2941_2942insG (p.Asn981ArgfsTer?)
c.175_176insG (p.Asn59ArgfsTer?)
 dbSNP
Xg.49218475T>ACA412964615CACNA1Fc.2908A>T (p.Asn970Tyr)
c.2746A>T (p.Asn916Tyr)
c.2941A>T (p.Asn981Tyr)
c.175A>T (p.Asn59Tyr)
Xg.49218475T>CCA412964616CACNA1Fc.2908A>G (p.Asn970Asp)
c.2746A>G (p.Asn916Asp)
c.2941A>G (p.Asn981Asp)
c.175A>G (p.Asn59Asp)
 dbSNP gnomAD v4
Xg.49218475T>GCA412964617CACNA1Fc.2908A>C (p.Asn970His)
c.2746A>C (p.Asn916His)
c.2941A>C (p.Asn981His)
c.175A>C (p.Asn59His)
Xg.49218475T=CA2428540373CACNA1Fc.2908A= (p.Asn970=)
c.2746A= (p.Asn916=)
c.2941A= (p.Asn981=)
c.175A= (p.Asn59=)
Xg.49218476G>ACA516377483CACNA1Fc.2907C>T (p.Ile969=)
c.2745C>T (p.Ile915=)
c.2940C>T (p.Ile980=)
c.174C>T (p.Ile58=)
Xg.49218476G>CCA412964618CACNA1Fc.2907C>G (p.Ile969Met)
c.2745C>G (p.Ile915Met)
c.2940C>G (p.Ile980Met)
c.174C>G (p.Ile58Met)
 gnomAD v4
Xg.49218476G>TCA516377484CACNA1Fc.2907C>A (p.Ile969=)
c.2745C>A (p.Ile915=)
c.2940C>A (p.Ile980=)
c.174C>A (p.Ile58=)
 gnomAD v4
Xg.49218477A>CCA412964619CACNA1Fc.2906T>G (p.Ile969Ser)
c.2744T>G (p.Ile915Ser)
c.2939T>G (p.Ile980Ser)
c.173T>G (p.Ile58Ser)
Xg.49218477A>GCA412964620CACNA1Fc.2906T>C (p.Ile969Thr)
c.2744T>C (p.Ile915Thr)
c.2939T>C (p.Ile980Thr)
c.173T>C (p.Ile58Thr)
Xg.49218477A>TCA412964621CACNA1Fc.2906T>A (p.Ile969Asn)
c.2744T>A (p.Ile915Asn)
c.2939T>A (p.Ile980Asn)
c.173T>A (p.Ile58Asn)
Xg.49218478T>ACA412964624CACNA1Fc.2905A>T (p.Ile969Phe)
c.2743A>T (p.Ile915Phe)
c.2938A>T (p.Ile980Phe)
c.172A>T (p.Ile58Phe)
Xg.49218478T>CCA412964622CACNA1Fc.2905A>G (p.Ile969Val)
c.2743A>G (p.Ile915Val)
c.2938A>G (p.Ile980Val)
c.172A>G (p.Ile58Val)
 dbSNP gnomAD v2
Xg.49218478T>GCA412964623CACNA1Fc.2905A>C (p.Ile969Leu)
c.2743A>C (p.Ile915Leu)
c.2938A>C (p.Ile980Leu)
c.172A>C (p.Ile58Leu)
Xg.49218478T=CA2428540375CACNA1Fc.2905A= (p.Ile969=)
c.2743A= (p.Ile915=)
c.2938A= (p.Ile980=)
c.172A= (p.Ile58=)
Xg.49218479G>ACA516377485CACNA1Fc.2904C>T (p.Ala968=)
c.2742C>T (p.Ala914=)
c.2937C>T (p.Ala979=)
c.171C>T (p.Ala57=)
Xg.49218479G>CCA516377486CACNA1Fc.2904C>G (p.Ala968=)
c.2742C>G (p.Ala914=)
c.2937C>G (p.Ala979=)
c.171C>G (p.Ala57=)
Xg.49218479G>TCA516377487CACNA1Fc.2904C>A (p.Ala968=)
c.2742C>A (p.Ala914=)
c.2937C>A (p.Ala979=)
c.171C>A (p.Ala57=)
 gnomAD v4
Xg.49218480G>ACA412964625CACNA1Fc.2903C>T (p.Ala968Val)
c.2741C>T (p.Ala914Val)
c.2936C>T (p.Ala979Val)
c.170C>T (p.Ala57Val)
Xg.49218480G>CCA412964626CACNA1Fc.2903C>G (p.Ala968Gly)
c.2741C>G (p.Ala914Gly)
c.2936C>G (p.Ala979Gly)
c.170C>G (p.Ala57Gly)
Xg.49218480G>TCA412964627CACNA1Fc.2903C>A (p.Ala968Asp)
c.2741C>A (p.Ala914Asp)
c.2936C>A (p.Ala979Asp)
c.170C>A (p.Ala57Asp)
Xg.49218481C>ACA412964628CACNA1Fc.2902G>T (p.Ala968Ser)
c.2740G>T (p.Ala914Ser)
c.2935G>T (p.Ala979Ser)
c.169G>T (p.Ala57Ser)
 gnomAD v4
Xg.49218481C>GCA412964629CACNA1Fc.2902G>C (p.Ala968Pro)
c.2740G>C (p.Ala914Pro)
c.2935G>C (p.Ala979Pro)
c.169G>C (p.Ala57Pro)
Xg.49218481C>TCA412964630CACNA1Fc.2902G>A (p.Ala968Thr)
c.2740G>A (p.Ala914Thr)
c.2935G>A (p.Ala979Thr)
c.169G>A (p.Ala57Thr)
 gnomAD v4
Xg.49218482T>ACA516377488CACNA1Fc.2901A>T (p.Arg967=)
c.2739A>T (p.Arg913=)
c.2934A>T (p.Arg978=)
c.168A>T (p.Arg56=)
 gnomAD v4
Xg.49218482T>CCA516377489CACNA1Fc.2901A>G (p.Arg967=)
c.2739A>G (p.Arg913=)
c.2934A>G (p.Arg978=)
c.168A>G (p.Arg56=)
Xg.49218482T>GCA516377490CACNA1Fc.2901A>C (p.Arg967=)
c.2739A>C (p.Arg913=)
c.2934A>C (p.Arg978=)
c.168A>C (p.Arg56=)
Xg.49218483C>ACA412964631CACNA1Fc.2900G>T (p.Arg967Leu)
c.2738G>T (p.Arg913Leu)
c.2933G>T (p.Arg978Leu)
c.167G>T (p.Arg56Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.49218483C=CA2428540376CACNA1Fc.2900G= (p.Arg967=)
c.2738G= (p.Arg913=)
c.2933G= (p.Arg978=)
c.167G= (p.Arg56=)
Xg.49218483C>GCA412964632CACNA1Fc.2900G>C (p.Arg967Pro)
c.2738G>C (p.Arg913Pro)
c.2933G>C (p.Arg978Pro)
c.167G>C (p.Arg56Pro)
 gnomAD v4
Xg.49218483C>TCA412964633CACNA1Fc.2900G>A (p.Arg967Gln)
c.2738G>A (p.Arg913Gln)
c.2933G>A (p.Arg978Gln)
c.167G>A (p.Arg56Gln)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.49218484G>ACA412964634CACNA1Fc.2899C>T (p.Arg967Ter)
c.2737C>T (p.Arg913Ter)
c.2932C>T (p.Arg978Ter)
c.166C>T (p.Arg56Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.49218484G>CCA412964635CACNA1Fc.2899C>G (p.Arg967Gly)
c.2737C>G (p.Arg913Gly)
c.2932C>G (p.Arg978Gly)
c.166C>G (p.Arg56Gly)
 gnomAD v4
Xg.49218484G=CA2428540377CACNA1Fc.2899C= (p.Arg967=)
c.2737C= (p.Arg913=)
c.2932C= (p.Arg978=)
c.166C= (p.Arg56=)
Xg.49218484G>TCA516377491CACNA1Fc.2899C>A (p.Arg967=)
c.2737C>A (p.Arg913=)
c.2932C>A (p.Arg978=)
c.166C>A (p.Arg56=)
 gnomAD v4
Xg.49218485G>ACA516377492CACNA1Fc.2898C>T (p.Leu966=)
c.2736C>T (p.Leu912=)
c.2931C>T (p.Leu977=)
c.165C>T (p.Leu55=)
Xg.49218485G>CCA516377493CACNA1Fc.2898C>G (p.Leu966=)
c.2736C>G (p.Leu912=)
c.2931C>G (p.Leu977=)
c.165C>G (p.Leu55=)
Xg.49218485G>TCA516377494CACNA1Fc.2898C>A (p.Leu966=)
c.2736C>A (p.Leu912=)
c.2931C>A (p.Leu977=)
c.165C>A (p.Leu55=)
Xg.49218486A>CCA412964638CACNA1Fc.2897T>G (p.Leu966Arg)
c.2735T>G (p.Leu912Arg)
c.2930T>G (p.Leu977Arg)
c.164T>G (p.Leu55Arg)
Xg.49218486A>GCA412964637CACNA1Fc.2897T>C (p.Leu966Pro)
c.2735T>C (p.Leu912Pro)
c.2930T>C (p.Leu977Pro)
c.164T>C (p.Leu55Pro)
 gnomAD v4
Xg.49218486A>TCA412964636CACNA1Fc.2897T>A (p.Leu966His)
c.2735T>A (p.Leu912His)
c.2930T>A (p.Leu977His)
c.164T>A (p.Leu55His)
 gnomAD v4
Xg.49218486_49218487delinsAGCA2428540378CACNA1Fc.2896_2897delinsCT (p.Leu966=)
c.2734_2735delinsCT (p.Leu912=)
c.2929_2930delinsCT (p.Leu977=)
c.163_164delinsCT (p.Leu55=)
Xg.49218487G>ACA412964639CACNA1Fc.2896C>T (p.Leu966Phe)
c.2734C>T (p.Leu912Phe)
c.2929C>T (p.Leu977Phe)
c.163C>T (p.Leu55Phe)
 ClinVar dbSNP gnomAD v4
Xg.49218487G>CCA412964640CACNA1Fc.2896C>G (p.Leu966Val)
c.2734C>G (p.Leu912Val)
c.2929C>G (p.Leu977Val)
c.163C>G (p.Leu55Val)
Xg.49218487G=CA2428540379CACNA1Fc.2896C= (p.Leu966=)
c.2734C= (p.Leu912=)
c.2929C= (p.Leu977=)
c.163C= (p.Leu55=)
Xg.49218487G>TCA412964641CACNA1Fc.2896C>A (p.Leu966Ile)
c.2734C>A (p.Leu912Ile)
c.2929C>A (p.Leu977Ile)
c.163C>A (p.Leu55Ile)
 gnomAD v4
Xg.49218490delCA641531521CACNA1Fc.2896del (p.Leu966SerfsTer28)
c.2734del (p.Leu912SerfsTer28)
c.2929del (p.Leu977SerfsTer28)
c.163del (p.Leu55SerfsTer28)
 dbSNP gnomAD v2 gnomAD v4
Xg.49218488G>ACA329140982CACNA1Fc.2895C>T (p.Pro965=)
c.2733C>T (p.Pro911=)
c.2928C>T (p.Pro976=)
c.162C>T (p.Pro54=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.49218488G>CCA516377495CACNA1Fc.2895C>G (p.Pro965=)
c.2733C>G (p.Pro911=)
c.2928C>G (p.Pro976=)
c.162C>G (p.Pro54=)
Xg.49218488G=CA2428540380CACNA1Fc.2895C= (p.Pro965=)
c.2733C= (p.Pro911=)
c.2928C= (p.Pro976=)
c.162C= (p.Pro54=)
Xg.49218488G>TCA516377496CACNA1Fc.2895C>A (p.Pro965=)
c.2733C>A (p.Pro911=)
c.2928C>A (p.Pro976=)
c.162C>A (p.Pro54=)
 gnomAD v4
Xg.49218489G>ACA412964642CACNA1Fc.2894C>T (p.Pro965Leu)
c.2732C>T (p.Pro911Leu)
c.2927C>T (p.Pro976Leu)
c.161C>T (p.Pro54Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218489G>CCA412964643CACNA1Fc.2894C>G (p.Pro965Arg)
c.2732C>G (p.Pro911Arg)
c.2927C>G (p.Pro976Arg)
c.161C>G (p.Pro54Arg)
Xg.49218489G=CA2428540381CACNA1Fc.2894C= (p.Pro965=)
c.2732C= (p.Pro911=)
c.2927C= (p.Pro976=)
c.161C= (p.Pro54=)
Xg.49218489G>TCA412964644CACNA1Fc.2894C>A (p.Pro965His)
c.2732C>A (p.Pro911His)
c.2927C>A (p.Pro976His)
c.161C>A (p.Pro54His)
Xg.49218490G>ACA412964647CACNA1Fc.2893C>T (p.Pro965Ser)
c.2731C>T (p.Pro911Ser)
c.2926C>T (p.Pro976Ser)
c.160C>T (p.Pro54Ser)
Xg.49218490G>CCA412964645CACNA1Fc.2893C>G (p.Pro965Ala)
c.2731C>G (p.Pro911Ala)
c.2926C>G (p.Pro976Ala)
c.160C>G (p.Pro54Ala)
Xg.49218490G=CA2428540382CACNA1Fc.2893C= (p.Pro965=)
c.2731C= (p.Pro911=)
c.2926C= (p.Pro976=)
c.160C= (p.Pro54=)
Xg.49218490G>TCA412964646CACNA1Fc.2893C>A (p.Pro965Thr)
c.2731C>A (p.Pro911Thr)
c.2926C>A (p.Pro976Thr)
c.160C>A (p.Pro54Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.49218491C>ACA516377497CACNA1Fc.2892G>T (p.Arg964=)
c.2730G>T (p.Arg910=)
c.2925G>T (p.Arg975=)
c.159G>T (p.Arg53=)
 gnomAD v4
Xg.49218491C>GCA516377499CACNA1Fc.2892G>C (p.Arg964=)
c.2730G>C (p.Arg910=)
c.2925G>C (p.Arg975=)
c.159G>C (p.Arg53=)
Xg.49218491C>TCA516377498CACNA1Fc.2892G>A (p.Arg964=)
c.2730G>A (p.Arg910=)
c.2925G>A (p.Arg975=)
c.159G>A (p.Arg53=)
 gnomAD v4
Xg.49218492C>ACA412964648CACNA1Fc.2891G>T (p.Arg964Leu)
c.2729G>T (p.Arg910Leu)
c.2924G>T (p.Arg975Leu)
c.158G>T (p.Arg53Leu)
 gnomAD v4
Xg.49218492C>GCA412964649CACNA1Fc.2891G>C (p.Arg964Pro)
c.2729G>C (p.Arg910Pro)
c.2924G>C (p.Arg975Pro)
c.158G>C (p.Arg53Pro)
Xg.49218492C>TCA412964650CACNA1Fc.2891G>A (p.Arg964Gln)
c.2729G>A (p.Arg910Gln)
c.2924G>A (p.Arg975Gln)
c.158G>A (p.Arg53Gln)
 ClinVar gnomAD v4
Xg.49218493G>ACA412964651CACNA1Fc.2890C>T (p.Arg964Trp)
c.2728C>T (p.Arg910Trp)
c.2923C>T (p.Arg975Trp)
c.157C>T (p.Arg53Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218493G>CCA412964652CACNA1Fc.2890C>G (p.Arg964Gly)
c.2728C>G (p.Arg910Gly)
c.2923C>G (p.Arg975Gly)
c.157C>G (p.Arg53Gly)
Xg.49218493G=CA2428540383CACNA1Fc.2890C= (p.Arg964=)
c.2728C= (p.Arg910=)
c.2923C= (p.Arg975=)
c.157C= (p.Arg53=)
Xg.49218493G>TCA516377500CACNA1Fc.2890C>A (p.Arg964=)
c.2728C>A (p.Arg910=)
c.2923C>A (p.Arg975=)
c.157C>A (p.Arg53=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.49218494C>ACA516377503CACNA1Fc.2889G>T (p.Leu963=)
c.2727G>T (p.Leu909=)
c.2922G>T (p.Leu974=)
c.156G>T (p.Leu52=)
 dbSNP gnomAD v2
Xg.49218494C=CA2428540384CACNA1Fc.2889G= (p.Leu963=)
c.2727G= (p.Leu909=)
c.2922G= (p.Leu974=)
c.156G= (p.Leu52=)
Xg.49218494C>GCA516377502CACNA1Fc.2889G>C (p.Leu963=)
c.2727G>C (p.Leu909=)
c.2922G>C (p.Leu974=)
c.156G>C (p.Leu52=)
Xg.49218494C>TCA516377501CACNA1Fc.2889G>A (p.Leu963=)
c.2727G>A (p.Leu909=)
c.2922G>A (p.Leu974=)
c.156G>A (p.Leu52=)
Xg.49218495A>CCA412964653CACNA1Fc.2888T>G (p.Leu963Arg)
c.2726T>G (p.Leu909Arg)
c.2921T>G (p.Leu974Arg)
c.155T>G (p.Leu52Arg)
Xg.49218495A>GCA412964655CACNA1Fc.2888T>C (p.Leu963Pro)
c.2726T>C (p.Leu909Pro)
c.2921T>C (p.Leu974Pro)
c.155T>C (p.Leu52Pro)
 ClinVar gnomAD v4
Xg.49218495A>TCA412964654CACNA1Fc.2888T>A (p.Leu963Gln)
c.2726T>A (p.Leu909Gln)
c.2921T>A (p.Leu974Gln)
c.155T>A (p.Leu52Gln)
Xg.49218496G>ACA516377504CACNA1Fc.2887C>T (p.Leu963=)
c.2725C>T (p.Leu909=)
c.2920C>T (p.Leu974=)
c.154C>T (p.Leu52=)
 gnomAD v4
Xg.49218496G>CCA412964656CACNA1Fc.2887C>G (p.Leu963Val)
c.2725C>G (p.Leu909Val)
c.2920C>G (p.Leu974Val)
c.154C>G (p.Leu52Val)
Xg.49218496G>TCA412964657CACNA1Fc.2887C>A (p.Leu963Met)
c.2725C>A (p.Leu909Met)
c.2920C>A (p.Leu974Met)
c.154C>A (p.Leu52Met)
 gnomAD v4 COSMIC
Xg.49218497T>ACA516377505CACNA1Fc.2886A>T (p.Val962=)
c.2724A>T (p.Val908=)
c.2919A>T (p.Val973=)
c.153A>T (p.Val51=)
Xg.49218497T>CCA516377507CACNA1Fc.2886A>G (p.Val962=)
c.2724A>G (p.Val908=)
c.2919A>G (p.Val973=)
c.153A>G (p.Val51=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218497T>GCA516377506CACNA1Fc.2886A>C (p.Val962=)
c.2724A>C (p.Val908=)
c.2919A>C (p.Val973=)
c.153A>C (p.Val51=)
Xg.49218497T=CA2428540385CACNA1Fc.2886A= (p.Val962=)
c.2724A= (p.Val908=)
c.2919A= (p.Val973=)
c.153A= (p.Val51=)
Xg.49218498A>CCA412964658CACNA1Fc.2885T>G (p.Val962Gly)
c.2723T>G (p.Val908Gly)
c.2918T>G (p.Val973Gly)
c.152T>G (p.Val51Gly)
Xg.49218498A>GCA412964659CACNA1Fc.2885T>C (p.Val962Ala)
c.2723T>C (p.Val908Ala)
c.2918T>C (p.Val973Ala)
c.152T>C (p.Val51Ala)
Xg.49218498A>TCA412964660CACNA1Fc.2885T>A (p.Val962Glu)
c.2723T>A (p.Val908Glu)
c.2918T>A (p.Val973Glu)
c.152T>A (p.Val51Glu)
Xg.49218499C>ACA412964661CACNA1Fc.2884G>T (p.Val962Leu)
c.2722G>T (p.Val908Leu)
c.2917G>T (p.Val973Leu)
c.151G>T (p.Val51Leu)
Xg.49218499C>GCA412964662CACNA1Fc.2884G>C (p.Val962Leu)
c.2722G>C (p.Val908Leu)
c.2917G>C (p.Val973Leu)
c.151G>C (p.Val51Leu)
Xg.49218499C>TCA412964663CACNA1Fc.2884G>A (p.Val962Ile)
c.2722G>A (p.Val908Ile)
c.2917G>A (p.Val973Ile)
c.151G>A (p.Val51Ile)
 gnomAD v4
Xg.49218500T>ACA516377508CACNA1Fc.2883A>T (p.Arg961=)
c.2721A>T (p.Arg907=)
c.2916A>T (p.Arg972=)
c.150A>T (p.Arg50=)
 gnomAD v4
Xg.49218500T>CCA516377509CACNA1Fc.2883A>G (p.Arg961=)
c.2721A>G (p.Arg907=)
c.2916A>G (p.Arg972=)
c.150A>G (p.Arg50=)
Xg.49218500T>GCA516377510CACNA1Fc.2883A>C (p.Arg961=)
c.2721A>C (p.Arg907=)
c.2916A>C (p.Arg972=)
c.150A>C (p.Arg50=)
Xg.49218501C>ACA412964664CACNA1Fc.2882G>T (p.Arg961Leu)
c.2720G>T (p.Arg907Leu)
c.2915G>T (p.Arg972Leu)
c.149G>T (p.Arg50Leu)
 gnomAD v4
Xg.49218501C=CA2428540386CACNA1Fc.2882G= (p.Arg961=)
c.2720G= (p.Arg907=)
c.2915G= (p.Arg972=)
c.149G= (p.Arg50=)
Xg.49218501C>GCA412964665CACNA1Fc.2882G>C (p.Arg961Pro)
c.2720G>C (p.Arg907Pro)
c.2915G>C (p.Arg972Pro)
c.149G>C (p.Arg50Pro)
Xg.49218501C>TCA10410583CACNA1Fc.2882G>A (p.Arg961Gln)
c.2720G>A (p.Arg907Gln)
c.2915G>A (p.Arg972Gln)
c.149G>A (p.Arg50Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218502G>ACA412964666CACNA1Fc.2881C>T (p.Arg961Ter)
c.2719C>T (p.Arg907Ter)
c.2914C>T (p.Arg972Ter)
c.148C>T (p.Arg50Ter)
 ClinVar dbSNP gnomAD v4
Xg.49218502G>CCA412964667CACNA1Fc.2881C>G (p.Arg961Gly)
c.2719C>G (p.Arg907Gly)
c.2914C>G (p.Arg972Gly)
c.148C>G (p.Arg50Gly)
Xg.49218502G=CA2428540387CACNA1Fc.2881C= (p.Arg961=)
c.2719C= (p.Arg907=)
c.2914C= (p.Arg972=)
c.148C= (p.Arg50=)
Xg.49218502G>TCA516377511CACNA1Fc.2881C>A (p.Arg961=)
c.2719C>A (p.Arg907=)
c.2914C>A (p.Arg972=)
c.148C>A (p.Arg50=)
 gnomAD v4
Xg.49218503G>ACA516377512CACNA1Fc.2880C>T (p.Leu960=)
c.2718C>T (p.Leu906=)
c.2913C>T (p.Leu971=)
c.147C>T (p.Leu49=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218503G>CCA516377513CACNA1Fc.2880C>G (p.Leu960=)
c.2718C>G (p.Leu906=)
c.2913C>G (p.Leu971=)
c.147C>G (p.Leu49=)
Xg.49218503G=CA2428540388CACNA1Fc.2880C= (p.Leu960=)
c.2718C= (p.Leu906=)
c.2913C= (p.Leu971=)
c.147C= (p.Leu49=)
Xg.49218503G>TCA516377514CACNA1Fc.2880C>A (p.Leu960=)
c.2718C>A (p.Leu906=)
c.2913C>A (p.Leu971=)
c.147C>A (p.Leu49=)
Xg.49218503_49218504insTTTTTTAATGCA1132997635CACNA1Fc.2880_2881insATTAAAAAAC (p.Arg961IlefsTer?)
c.2718_2719insATTAAAAAAC (p.Arg907IlefsTer?)
c.2913_2914insATTAAAAAAC (p.Arg972IlefsTer?)
c.147_148insATTAAAAAAC (p.Arg50IlefsTer?)
 gnomAD v3 gnomAD v4
Xg.49218504A>CCA412964668CACNA1Fc.2879T>G (p.Leu960Arg)
c.2717T>G (p.Leu906Arg)
c.2912T>G (p.Leu971Arg)
c.146T>G (p.Leu49Arg)
Xg.49218504A>GCA412964670CACNA1Fc.2879T>C (p.Leu960Pro)
c.2717T>C (p.Leu906Pro)
c.2912T>C (p.Leu971Pro)
c.146T>C (p.Leu49Pro)
 gnomAD v4
Xg.49218504A>TCA412964669CACNA1Fc.2879T>A (p.Leu960His)
c.2717T>A (p.Leu906His)
c.2912T>A (p.Leu971His)
c.146T>A (p.Leu49His)
Xg.49218505delCA1132997640CACNA1Fc.2878del (p.Leu960SerfsTer?)
c.2716del (p.Leu906SerfsTer?)
c.2911del (p.Leu971SerfsTer?)
c.145del (p.Leu49SerfsTer?)
 gnomAD v3 gnomAD v4
Xg.49218505G>ACA412964671CACNA1Fc.2878C>T (p.Leu960Phe)
c.2716C>T (p.Leu906Phe)
c.2911C>T (p.Leu971Phe)
c.145C>T (p.Leu49Phe)
 gnomAD v4
Xg.49218505G>CCA412964672CACNA1Fc.2878C>G (p.Leu960Val)
c.2716C>G (p.Leu906Val)
c.2911C>G (p.Leu971Val)
c.145C>G (p.Leu49Val)
Xg.49218505G>TCA412964673CACNA1Fc.2878C>A (p.Leu960Ile)
c.2716C>A (p.Leu906Ile)
c.2911C>A (p.Leu971Ile)
c.145C>A (p.Leu49Ile)
 gnomAD v4
Xg.49218506T>ACA516377515CACNA1Fc.2877A>T (p.Val959=)
c.2715A>T (p.Val905=)
c.2910A>T (p.Val970=)
c.144A>T (p.Val48=)
Xg.49218506T>CCA516377516CACNA1Fc.2877A>G (p.Val959=)
c.2715A>G (p.Val905=)
c.2910A>G (p.Val970=)
c.144A>G (p.Val48=)
 gnomAD v4
Xg.49218506T>GCA516377517CACNA1Fc.2877A>C (p.Val959=)
c.2715A>C (p.Val905=)
c.2910A>C (p.Val970=)
c.144A>C (p.Val48=)
Xg.49218507A>CCA412964674CACNA1Fc.2876T>G (p.Val959Gly)
c.2714T>G (p.Val905Gly)
c.2909T>G (p.Val970Gly)
c.143T>G (p.Val48Gly)
Xg.49218507A>GCA412964675CACNA1Fc.2876T>C (p.Val959Ala)
c.2714T>C (p.Val905Ala)
c.2909T>C (p.Val970Ala)
c.143T>C (p.Val48Ala)
Xg.49218507A>TCA412964676CACNA1Fc.2876T>A (p.Val959Glu)
c.2714T>A (p.Val905Glu)
c.2909T>A (p.Val970Glu)
c.143T>A (p.Val48Glu)
 gnomAD v3 gnomAD v4
Xg.49218508C>ACA412964679CACNA1Fc.2875G>T (p.Val959Leu)
c.2713G>T (p.Val905Leu)
c.2908G>T (p.Val970Leu)
c.142G>T (p.Val48Leu)
 gnomAD v4
Xg.49218508C>GCA412964677CACNA1Fc.2875G>C (p.Val959Leu)
c.2713G>C (p.Val905Leu)
c.2908G>C (p.Val970Leu)
c.142G>C (p.Val48Leu)
Xg.49218508C>TCA412964678CACNA1Fc.2875G>A (p.Val959Ile)
c.2713G>A (p.Val905Ile)
c.2908G>A (p.Val970Ile)
c.142G>A (p.Val48Ile)
 gnomAD v4
Xg.49218508_49218509insGCA1132997647CACNA1Fc.2874_2875insC (p.Val959ArgfsTer?)
c.2712_2713insC (p.Val905ArgfsTer?)
c.2907_2908insC (p.Val970ArgfsTer?)
c.141_142insC (p.Val48ArgfsTer?)
 gnomAD v3 gnomAD v4
Xg.49218509T>ACA516377518CACNA1Fc.2874A>T (p.Arg958=)
c.2712A>T (p.Arg904=)
c.2907A>T (p.Arg969=)
c.141A>T (p.Arg47=)
Xg.49218509T>CCA516377519CACNA1Fc.2874A>G (p.Arg958=)
c.2712A>G (p.Arg904=)
c.2907A>G (p.Arg969=)
c.141A>G (p.Arg47=)
Xg.49218509T>GCA516377520CACNA1Fc.2874A>C (p.Arg958=)
c.2712A>C (p.Arg904=)
c.2907A>C (p.Arg969=)
c.141A>C (p.Arg47=)
 gnomAD v3 gnomAD v4
Xg.49218510C>ACA10410584CACNA1Fc.2873G>T (p.Arg958Leu)
c.2711G>T (p.Arg904Leu)
c.2906G>T (p.Arg969Leu)
c.140G>T (p.Arg47Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218510C=CA2428540389CACNA1Fc.2873G= (p.Arg958=)
c.2711G= (p.Arg904=)
c.2906G= (p.Arg969=)
c.140G= (p.Arg47=)
Xg.49218510C>GCA412964680CACNA1Fc.2873G>C (p.Arg958Pro)
c.2711G>C (p.Arg904Pro)
c.2906G>C (p.Arg969Pro)
c.140G>C (p.Arg47Pro)
 gnomAD v4
Xg.49218510C>TCA412964681CACNA1Fc.2873G>A (p.Arg958Gln)
c.2711G>A (p.Arg904Gln)
c.2906G>A (p.Arg969Gln)
c.140G>A (p.Arg47Gln)
 ClinVar dbSNP gnomAD v4
Xg.49218511G>ACA255938CACNA1Fc.2872C>T (p.Arg958Ter)
c.2710C>T (p.Arg904Ter)
c.2905C>T (p.Arg969Ter)
c.139C>T (p.Arg47Ter)
 ClinVar dbSNP gnomAD v4
Xg.49218511G>CCA412964682CACNA1Fc.2872C>G (p.Arg958Gly)
c.2710C>G (p.Arg904Gly)
c.2905C>G (p.Arg969Gly)
c.139C>G (p.Arg47Gly)
Xg.49218511G=CA2428540390CACNA1Fc.2872C= (p.Arg958=)
c.2710C= (p.Arg904=)
c.2905C= (p.Arg969=)
c.139C= (p.Arg47=)
Xg.49218511G>TCA516377521CACNA1Fc.2872C>A (p.Arg958=)
c.2710C>A (p.Arg904=)
c.2905C>A (p.Arg969=)
c.139C>A (p.Arg47=)
 gnomAD v4
Xg.49218512C>ACA516377522CACNA1Fc.2871G>T (p.Leu957=)
c.2709G>T (p.Leu903=)
c.2904G>T (p.Leu968=)
c.138G>T (p.Leu46=)
 gnomAD v4
Xg.49218512C=CA2428540391CACNA1Fc.2871G= (p.Leu957=)
c.2709G= (p.Leu903=)
c.2904G= (p.Leu968=)
c.138G= (p.Leu46=)
Xg.49218512C>GCA516377524CACNA1Fc.2871G>C (p.Leu957=)
c.2709G>C (p.Leu903=)
c.2904G>C (p.Leu968=)
c.138G>C (p.Leu46=)
Xg.49218512C>TCA516377523CACNA1Fc.2871G>A (p.Leu957=)
c.2709G>A (p.Leu903=)
c.2904G>A (p.Leu968=)
c.138G>A (p.Leu46=)
 dbSNP gnomAD v3 gnomAD v4
Xg.49218512_49218521delCA1132997654CACNA1Fc.2862_2871del (p.Lys955GlufsTer?)
c.2700_2709del (p.Lys901GlufsTer?)
c.2895_2904del (p.Lys966GlufsTer?)
c.129_138del (p.Lys44GlufsTer?)
 gnomAD v3 gnomAD v4
Xg.49218513A>CCA412964683CACNA1Fc.2870T>G (p.Leu957Arg)
c.2708T>G (p.Leu903Arg)
c.2903T>G (p.Leu968Arg)
c.137T>G (p.Leu46Arg)
Xg.49218513A>GCA412964685CACNA1Fc.2870T>C (p.Leu957Pro)
c.2708T>C (p.Leu903Pro)
c.2903T>C (p.Leu968Pro)
c.137T>C (p.Leu46Pro)
 gnomAD v4
Xg.49218513A>TCA412964684CACNA1Fc.2870T>A (p.Leu957Gln)
c.2708T>A (p.Leu903Gln)
c.2903T>A (p.Leu968Gln)
c.137T>A (p.Leu46Gln)
Xg.49218514G>ACA516377525CACNA1Fc.2869C>T (p.Leu957=)
c.2707C>T (p.Leu903=)
c.2902C>T (p.Leu968=)
c.136C>T (p.Leu46=)
Xg.49218514G>CCA412964686CACNA1Fc.2869C>G (p.Leu957Val)
c.2707C>G (p.Leu903Val)
c.2902C>G (p.Leu968Val)
c.136C>G (p.Leu46Val)
Xg.49218514G>TCA412964687CACNA1Fc.2869C>A (p.Leu957Met)
c.2707C>A (p.Leu903Met)
c.2902C>A (p.Leu968Met)
c.136C>A (p.Leu46Met)
 gnomAD v4
Xg.49218515A>CCA412964688CACNA1Fc.2868T>G (p.Ile956Met)
c.2706T>G (p.Ile902Met)
c.2901T>G (p.Ile967Met)
c.135T>G (p.Ile45Met)
Xg.49218515A>GCA516377526CACNA1Fc.2868T>C (p.Ile956=)
c.2706T>C (p.Ile902=)
c.2901T>C (p.Ile967=)
c.135T>C (p.Ile45=)
Xg.49218515A>TCA516377527CACNA1Fc.2868T>A (p.Ile956=)
c.2706T>A (p.Ile902=)
c.2901T>A (p.Ile967=)
c.135T>A (p.Ile45=)
 gnomAD v4
Xg.49218516A>CCA412964689CACNA1Fc.2867T>G (p.Ile956Ser)
c.2705T>G (p.Ile902Ser)
c.2900T>G (p.Ile967Ser)
c.134T>G (p.Ile45Ser)
Xg.49218516A>GCA412964690CACNA1Fc.2867T>C (p.Ile956Thr)
c.2705T>C (p.Ile902Thr)
c.2900T>C (p.Ile967Thr)
c.134T>C (p.Ile45Thr)
Xg.49218516A>TCA412964691CACNA1Fc.2867T>A (p.Ile956Asn)
c.2705T>A (p.Ile902Asn)
c.2900T>A (p.Ile967Asn)
c.134T>A (p.Ile45Asn)
Xg.49218517T>ACA412964692CACNA1Fc.2866A>T (p.Ile956Phe)
c.2704A>T (p.Ile902Phe)
c.2899A>T (p.Ile967Phe)
c.133A>T (p.Ile45Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218517T>CCA412964693CACNA1Fc.2866A>G (p.Ile956Val)
c.2704A>G (p.Ile902Val)
c.2899A>G (p.Ile967Val)
c.133A>G (p.Ile45Val)
Xg.49218517T>GCA412964694CACNA1Fc.2866A>C (p.Ile956Leu)
c.2704A>C (p.Ile902Leu)
c.2899A>C (p.Ile967Leu)
c.133A>C (p.Ile45Leu)
Xg.49218517T=CA2428540392CACNA1Fc.2866A= (p.Ile956=)
c.2704A= (p.Ile902=)
c.2899A= (p.Ile967=)
c.133A= (p.Ile45=)
Xg.49218518C>ACA412964695CACNA1Fc.2865G>T (p.Lys955Asn)
c.2703G>T (p.Lys901Asn)
c.2898G>T (p.Lys966Asn)
c.132G>T (p.Lys44Asn)
 gnomAD v4
Xg.49218518C>GCA412964696CACNA1Fc.2865G>C (p.Lys955Asn)
c.2703G>C (p.Lys901Asn)
c.2898G>C (p.Lys966Asn)
c.132G>C (p.Lys44Asn)
Xg.49218518C>TCA516377528CACNA1Fc.2865G>A (p.Lys955=)
c.2703G>A (p.Lys901=)
c.2898G>A (p.Lys966=)
c.132G>A (p.Lys44=)
 gnomAD v3 gnomAD v4
Xg.49218519T>ACA412964697CACNA1Fc.2864A>T (p.Lys955Met)
c.2702A>T (p.Lys901Met)
c.2897A>T (p.Lys966Met)
c.131A>T (p.Lys44Met)
Xg.49218519T>CCA412964699CACNA1Fc.2864A>G (p.Lys955Arg)
c.2702A>G (p.Lys901Arg)
c.2897A>G (p.Lys966Arg)
c.131A>G (p.Lys44Arg)
Xg.49218519T>GCA412964698CACNA1Fc.2864A>C (p.Lys955Thr)
c.2702A>C (p.Lys901Thr)
c.2897A>C (p.Lys966Thr)
c.131A>C (p.Lys44Thr)
Xg.49218520T>ACA412964700CACNA1Fc.2863A>T (p.Lys955Ter)
c.2701A>T (p.Lys901Ter)
c.2896A>T (p.Lys966Ter)
c.130A>T (p.Lys44Ter)
Xg.49218520T>CCA412964701CACNA1Fc.2863A>G (p.Lys955Glu)
c.2701A>G (p.Lys901Glu)
c.2896A>G (p.Lys966Glu)
c.130A>G (p.Lys44Glu)
Xg.49218520T>GCA412964702CACNA1Fc.2863A>C (p.Lys955Gln)
c.2701A>C (p.Lys901Gln)
c.2896A>C (p.Lys966Gln)
c.130A>C (p.Lys44Gln)
Xg.49218521C>ACA516377529CACNA1Fc.2862G>T (p.Val954=)
c.2700G>T (p.Val900=)
c.2895G>T (p.Val965=)
c.129G>T (p.Val43=)
Xg.49218521C>GCA516377530CACNA1Fc.2862G>C (p.Val954=)
c.2700G>C (p.Val900=)
c.2895G>C (p.Val965=)
c.129G>C (p.Val43=)
Xg.49218521C>TCA516377531CACNA1Fc.2862G>A (p.Val954=)
c.2700G>A (p.Val900=)
c.2895G>A (p.Val965=)
c.129G>A (p.Val43=)
 gnomAD v4
Xg.49218522A>CCA412964703CACNA1Fc.2861T>G (p.Val954Gly)
c.2699T>G (p.Val900Gly)
c.2894T>G (p.Val965Gly)
c.128T>G (p.Val43Gly)
Xg.49218522A>GCA412964704CACNA1Fc.2861T>C (p.Val954Ala)
c.2699T>C (p.Val900Ala)
c.2894T>C (p.Val965Ala)
c.128T>C (p.Val43Ala)
Xg.49218522A>TCA412964705CACNA1Fc.2861T>A (p.Val954Glu)
c.2699T>A (p.Val900Glu)
c.2894T>A (p.Val965Glu)
c.128T>A (p.Val43Glu)
Xg.49218523C>ACA412964706CACNA1Fc.2860G>T (p.Val954Leu)
c.2698G>T (p.Val900Leu)
c.2893G>T (p.Val965Leu)
c.127G>T (p.Val43Leu)
Xg.49218523C>GCA412964707CACNA1Fc.2860G>C (p.Val954Leu)
c.2698G>C (p.Val900Leu)
c.2893G>C (p.Val965Leu)
c.127G>C (p.Val43Leu)
Xg.49218523C>TCA412964708CACNA1Fc.2860G>A (p.Val954Met)
c.2698G>A (p.Val900Met)
c.2893G>A (p.Val965Met)
c.127G>A (p.Val43Met)
 gnomAD v4
Xg.49218524C>ACA516377532CACNA1Fc.2859G>T (p.Val953=)
c.2697G>T (p.Val899=)
c.2892G>T (p.Val964=)
c.126G>T (p.Val42=)
 gnomAD v4
Xg.49218524C>GCA516377533CACNA1Fc.2859G>C (p.Val953=)
c.2697G>C (p.Val899=)
c.2892G>C (p.Val964=)
c.126G>C (p.Val42=)
Xg.49218524C>TCA516377534CACNA1Fc.2859G>A (p.Val953=)
c.2697G>A (p.Val899=)
c.2892G>A (p.Val964=)
c.126G>A (p.Val42=)
Xg.49218525A>CCA412964709CACNA1Fc.2858T>G (p.Val953Gly)
c.2696T>G (p.Val899Gly)
c.2891T>G (p.Val964Gly)
c.125T>G (p.Val42Gly)
Xg.49218525A>GCA412964710CACNA1Fc.2858T>C (p.Val953Ala)
c.2696T>C (p.Val899Ala)
c.2891T>C (p.Val964Ala)
c.125T>C (p.Val42Ala)
Xg.49218525A>TCA412964711CACNA1Fc.2858T>A (p.Val953Glu)
c.2696T>A (p.Val899Glu)
c.2891T>A (p.Val964Glu)
c.125T>A (p.Val42Glu)
Xg.49218526C>ACA412964714CACNA1Fc.2857G>T (p.Val953Leu)
c.2695G>T (p.Val899Leu)
c.2890G>T (p.Val964Leu)
c.124G>T (p.Val42Leu)
 gnomAD v4
Xg.49218526C=CA2428540393CACNA1Fc.2857G= (p.Val953=)
c.2695G= (p.Val899=)
c.2890G= (p.Val964=)
c.124G= (p.Val42=)
Xg.49218526C>GCA412964712CACNA1Fc.2857G>C (p.Val953Leu)
c.2695G>C (p.Val899Leu)
c.2890G>C (p.Val964Leu)
c.124G>C (p.Val42Leu)
Xg.49218526C>TCA412964713CACNA1Fc.2857G>A (p.Val953Met)
c.2695G>A (p.Val899Met)
c.2890G>A (p.Val964Met)
c.124G>A (p.Val42Met)
 dbSNP gnomAD v2 gnomAD v4
Xg.49218527C>ACA516377536CACNA1Fc.2856G>T (p.Ser952=)
c.2694G>T (p.Ser898=)
c.2889G>T (p.Ser963=)
c.123G>T (p.Ser41=)
 gnomAD v4
Xg.49218527C=CA2428540394CACNA1Fc.2856G= (p.Ser952=)
c.2694G= (p.Ser898=)
c.2889G= (p.Ser963=)
c.123G= (p.Ser41=)
Xg.49218527C>GCA516377535CACNA1Fc.2856G>C (p.Ser952=)
c.2694G>C (p.Ser898=)
c.2889G>C (p.Ser963=)
c.123G>C (p.Ser41=)
 gnomAD v4
Xg.49218527C>TCA10410585CACNA1Fc.2856G>A (p.Ser952=)
c.2694G>A (p.Ser898=)
c.2889G>A (p.Ser963=)
c.123G>A (p.Ser41=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.49218528G>ACA10410586CACNA1Fc.2855C>T (p.Ser952Leu)
c.2693C>T (p.Ser898Leu)
c.2888C>T (p.Ser963Leu)
c.122C>T (p.Ser41Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.49218528G>CCA412964715CACNA1Fc.2855C>G (p.Ser952Trp)
c.2693C>G (p.Ser898Trp)
c.2888C>G (p.Ser963Trp)
c.122C>G (p.Ser41Trp)
Xg.49218528G=CA2428540395CACNA1Fc.2855C= (p.Ser952=)
c.2693C= (p.Ser898=)
c.2888C= (p.Ser963=)
c.122C= (p.Ser41=)
Xg.49218528G>TCA412964716CACNA1Fc.2855C>A (p.Ser952Ter)
c.2693C>A (p.Ser898Ter)
c.2888C>A (p.Ser963Ter)
c.122C>A (p.Ser41Ter)
 gnomAD v4
Xg.49218529A>CCA412964717CACNA1Fc.2854T>G (p.Ser952Ala)
c.2692T>G (p.Ser898Ala)
c.2887T>G (p.Ser963Ala)
c.121T>G (p.Ser41Ala)
Xg.49218529A>GCA412964718CACNA1Fc.2854T>C (p.Ser952Pro)
c.2692T>C (p.Ser898Pro)
c.2887T>C (p.Ser963Pro)
c.121T>C (p.Ser41Pro)
 gnomAD v4
Xg.49218529A>TCA412964719CACNA1Fc.2854T>A (p.Ser952Thr)
c.2692T>A (p.Ser898Thr)
c.2887T>A (p.Ser963Thr)
c.121T>A (p.Ser41Thr)
Xg.49218530G>ACA516377537CACNA1Fc.2853C>T (p.Ile951=)
c.2691C>T (p.Ile897=)
c.2886C>T (p.Ile962=)
c.120C>T (p.Ile40=)
Xg.49218530G>CCA412964720CACNA1Fc.2853C>G (p.Ile951Met)
c.2691C>G (p.Ile897Met)
c.2886C>G (p.Ile962Met)
c.120C>G (p.Ile40Met)
Xg.49218530G>TCA516377538CACNA1Fc.2853C>A (p.Ile951=)
c.2691C>A (p.Ile897=)
c.2886C>A (p.Ile962=)
c.120C>A (p.Ile40=)
 gnomAD v4

Number of alleles fetched