Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.13298778_13298811delCA2739291192CACNA1Ac.2822_2855del (p.Glu941AlafsTer?)
c.2828_2861del (p.Glu943AlafsTer?)
c.2825_2858del (p.Glu942AlafsTer?)
c.2834_2867del (p.Glu945AlafsTer?)
c.2684_2717del (p.Glu895AlafsTer?)
c.3020_3053del (p.Glu1007AlafsTer?)
19g.13298784_13298793delCA16620790CACNA1Ac.2844_2853del (p.Ala951SerfsTer?)
c.2850_2859del (p.Ala953SerfsTer?)
c.2847_2856del (p.Ala952SerfsTer?)
c.2856_2865del (p.Ala955SerfsTer?)
c.2706_2715del (p.Ala905SerfsTer?)
c.3042_3051del (p.Ala1017SerfsTer?)
 ClinVar dbSNP
19g.13298789_13298796delCA2580096609CACNA1Ac.2837_2844del (p.Ser946TyrfsTer?)
c.2843_2850del (p.Ser948TyrfsTer?)
c.2840_2847del (p.Ser947TyrfsTer?)
c.2849_2856del (p.Ser950TyrfsTer?)
c.2699_2706del (p.Ser900TyrfsTer?)
c.3035_3042del (p.Ser1012TyrfsTer?)
 ClinVar
19g.13298792C>ACA505784881CACNA1Ac.2841G>T (p.Pro947=)
c.2847G>T (p.Pro949=)
c.2844G>T (p.Pro948=)
c.2853G>T (p.Pro951=)
c.2703G>T (p.Pro901=)
c.3039G>T (p.Pro1013=)
 gnomAD v4
19g.13298792C=CA2323826062CACNA1Ac.2841G= (p.Pro947=)
c.2847G= (p.Pro949=)
c.2844G= (p.Pro948=)
c.2853G= (p.Pro951=)
c.2703G= (p.Pro901=)
c.3039G= (p.Pro1013=)
19g.13298792C>GCA505784884CACNA1Ac.2841G>C (p.Pro947=)
c.2847G>C (p.Pro949=)
c.2844G>C (p.Pro948=)
c.2853G>C (p.Pro951=)
c.2703G>C (p.Pro901=)
c.3039G>C (p.Pro1013=)
 dbSNP gnomAD v2 gnomAD v4
19g.13298792C>TCA9240460CACNA1Ac.2841G>A (p.Pro947=)
c.2847G>A (p.Pro949=)
c.2844G>A (p.Pro948=)
c.2853G>A (p.Pro951=)
c.2703G>A (p.Pro901=)
c.3039G>A (p.Pro1013=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298793G>ACA9240461CACNA1Ac.2840C>T (p.Pro947Leu)
c.2846C>T (p.Pro949Leu)
c.2843C>T (p.Pro948Leu)
c.2852C>T (p.Pro951Leu)
c.2702C>T (p.Pro901Leu)
c.3038C>T (p.Pro1013Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298793G>CCA404342610CACNA1Ac.2840C>G (p.Pro947Arg)
c.2846C>G (p.Pro949Arg)
c.2843C>G (p.Pro948Arg)
c.2852C>G (p.Pro951Arg)
c.2702C>G (p.Pro901Arg)
c.3038C>G (p.Pro1013Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298793G=CA2323826064CACNA1Ac.2840C= (p.Pro947=)
c.2846C= (p.Pro949=)
c.2843C= (p.Pro948=)
c.2852C= (p.Pro951=)
c.2702C= (p.Pro901=)
c.3038C= (p.Pro1013=)
19g.13298793G>TCA404342611CACNA1Ac.2840C>A (p.Pro947Gln)
c.2846C>A (p.Pro949Gln)
c.2843C>A (p.Pro948Gln)
c.2852C>A (p.Pro951Gln)
c.2702C>A (p.Pro901Gln)
c.3038C>A (p.Pro1013Gln)
 gnomAD v4
19g.13298796delCA2573156121CACNA1Ac.2840del (p.Pro947ArgfsTer?)
c.2846del (p.Pro949ArgfsTer?)
c.2843del (p.Pro948ArgfsTer?)
c.2852del (p.Pro951ArgfsTer?)
c.2702del (p.Pro901ArgfsTer?)
c.3038del (p.Pro1013ArgfsTer?)
 ClinVar dbSNP gnomAD v4
19g.13298794G>ACA404342612CACNA1Ac.2839C>T (p.Pro947Ser)
c.2845C>T (p.Pro949Ser)
c.2842C>T (p.Pro948Ser)
c.2851C>T (p.Pro951Ser)
c.2701C>T (p.Pro901Ser)
c.3037C>T (p.Pro1013Ser)
19g.13298794G>CCA404342613CACNA1Ac.2839C>G (p.Pro947Ala)
c.2845C>G (p.Pro949Ala)
c.2842C>G (p.Pro948Ala)
c.2851C>G (p.Pro951Ala)
c.2701C>G (p.Pro901Ala)
c.3037C>G (p.Pro1013Ala)
 gnomAD v4
19g.13298794G>TCA404342614CACNA1Ac.2839C>A (p.Pro947Thr)
c.2845C>A (p.Pro949Thr)
c.2842C>A (p.Pro948Thr)
c.2851C>A (p.Pro951Thr)
c.2701C>A (p.Pro901Thr)
c.3037C>A (p.Pro1013Thr)
19g.13298795G>ACA505784891CACNA1Ac.2838C>T (p.Ser946=)
c.2844C>T (p.Ser948=)
c.2841C>T (p.Ser947=)
c.2850C>T (p.Ser950=)
c.2700C>T (p.Ser900=)
c.3036C>T (p.Ser1012=)
 gnomAD v4
19g.13298795G>CCA505784892CACNA1Ac.2838C>G (p.Ser946=)
c.2844C>G (p.Ser948=)
c.2841C>G (p.Ser947=)
c.2850C>G (p.Ser950=)
c.2700C>G (p.Ser900=)
c.3036C>G (p.Ser1012=)
19g.13298795G>TCA505784894CACNA1Ac.2838C>A (p.Ser946=)
c.2844C>A (p.Ser948=)
c.2841C>A (p.Ser947=)
c.2850C>A (p.Ser950=)
c.2700C>A (p.Ser900=)
c.3036C>A (p.Ser1012=)
 gnomAD v4
19g.13298796G>ACA404342615CACNA1Ac.2837C>T (p.Ser946Phe)
c.2843C>T (p.Ser948Phe)
c.2840C>T (p.Ser947Phe)
c.2849C>T (p.Ser950Phe)
c.2699C>T (p.Ser900Phe)
c.3035C>T (p.Ser1012Phe)
 ClinVar dbSNP gnomAD v4
19g.13298796G>CCA404342616CACNA1Ac.2837C>G (p.Ser946Cys)
c.2843C>G (p.Ser948Cys)
c.2840C>G (p.Ser947Cys)
c.2849C>G (p.Ser950Cys)
c.2699C>G (p.Ser900Cys)
c.3035C>G (p.Ser1012Cys)
19g.13298796G=CA2323826065CACNA1Ac.2837C= (p.Ser946=)
c.2843C= (p.Ser948=)
c.2840C= (p.Ser947=)
c.2849C= (p.Ser950=)
c.2699C= (p.Ser900=)
c.3035C= (p.Ser1012=)
19g.13298796G>TCA404342617CACNA1Ac.2837C>A (p.Ser946Tyr)
c.2843C>A (p.Ser948Tyr)
c.2840C>A (p.Ser947Tyr)
c.2849C>A (p.Ser950Tyr)
c.2699C>A (p.Ser900Tyr)
c.3035C>A (p.Ser1012Tyr)
 dbSNP gnomAD v2 gnomAD v4
19g.13298797A>CCA404342618CACNA1Ac.2836T>G (p.Ser946Ala)
c.2842T>G (p.Ser948Ala)
c.2839T>G (p.Ser947Ala)
c.2848T>G (p.Ser950Ala)
c.2698T>G (p.Ser900Ala)
c.3034T>G (p.Ser1012Ala)
19g.13298797A>GCA404342619CACNA1Ac.2836T>C (p.Ser946Pro)
c.2842T>C (p.Ser948Pro)
c.2839T>C (p.Ser947Pro)
c.2848T>C (p.Ser950Pro)
c.2698T>C (p.Ser900Pro)
c.3034T>C (p.Ser1012Pro)
 gnomAD v4
19g.13298797A>TCA404342620CACNA1Ac.2836T>A (p.Ser946Thr)
c.2842T>A (p.Ser948Thr)
c.2839T>A (p.Ser947Thr)
c.2848T>A (p.Ser950Thr)
c.2698T>A (p.Ser900Thr)
c.3034T>A (p.Ser1012Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.13298798C>ACA505784901CACNA1Ac.2835G>T (p.Gly945=)
c.2841G>T (p.Gly947=)
c.2838G>T (p.Gly946=)
c.2847G>T (p.Gly949=)
c.2697G>T (p.Gly899=)
c.3033G>T (p.Gly1011=)
 gnomAD v4
19g.13298798C=CA2323826067CACNA1Ac.2835G= (p.Gly945=)
c.2841G= (p.Gly947=)
c.2838G= (p.Gly946=)
c.2847G= (p.Gly949=)
c.2697G= (p.Gly899=)
c.3033G= (p.Gly1011=)
19g.13298798C>GCA505784904CACNA1Ac.2835G>C (p.Gly945=)
c.2841G>C (p.Gly947=)
c.2838G>C (p.Gly946=)
c.2847G>C (p.Gly949=)
c.2697G>C (p.Gly899=)
c.3033G>C (p.Gly1011=)
19g.13298798C>TCA505784902CACNA1Ac.2835G>A (p.Gly945=)
c.2841G>A (p.Gly947=)
c.2838G>A (p.Gly946=)
c.2847G>A (p.Gly949=)
c.2697G>A (p.Gly899=)
c.3033G>A (p.Gly1011=)
 dbSNP gnomAD v4
19g.13298799C>ACA404342623CACNA1Ac.2834G>T (p.Gly945Val)
c.2840G>T (p.Gly947Val)
c.2837G>T (p.Gly946Val)
c.2846G>T (p.Gly949Val)
c.2696G>T (p.Gly899Val)
c.3032G>T (p.Gly1011Val)
 gnomAD v4
19g.13298799C>GCA404342622CACNA1Ac.2834G>C (p.Gly945Ala)
c.2840G>C (p.Gly947Ala)
c.2837G>C (p.Gly946Ala)
c.2846G>C (p.Gly949Ala)
c.2696G>C (p.Gly899Ala)
c.3032G>C (p.Gly1011Ala)
19g.13298799C>TCA404342621CACNA1Ac.2834G>A (p.Gly945Glu)
c.2840G>A (p.Gly947Glu)
c.2837G>A (p.Gly946Glu)
c.2846G>A (p.Gly949Glu)
c.2696G>A (p.Gly899Glu)
c.3032G>A (p.Gly1011Glu)
 gnomAD v4
19g.13298800C>ACA404342624CACNA1Ac.2833G>T (p.Gly945Trp)
c.2839G>T (p.Gly947Trp)
c.2836G>T (p.Gly946Trp)
c.2845G>T (p.Gly949Trp)
c.2695G>T (p.Gly899Trp)
c.3031G>T (p.Gly1011Trp)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298800C=CA2323826069CACNA1Ac.2833G= (p.Gly945=)
c.2839G= (p.Gly947=)
c.2836G= (p.Gly946=)
c.2845G= (p.Gly949=)
c.2695G= (p.Gly899=)
c.3031G= (p.Gly1011=)
19g.13298800C>GCA404342625CACNA1Ac.2833G>C (p.Gly945Arg)
c.2839G>C (p.Gly947Arg)
c.2836G>C (p.Gly946Arg)
c.2845G>C (p.Gly949Arg)
c.2695G>C (p.Gly899Arg)
c.3031G>C (p.Gly1011Arg)
 ClinVar dbSNP gnomAD v4
19g.13298800C>TCA9240462CACNA1Ac.2833G>A (p.Gly945Arg)
c.2839G>A (p.Gly947Arg)
c.2836G>A (p.Gly946Arg)
c.2845G>A (p.Gly949Arg)
c.2695G>A (p.Gly899Arg)
c.3031G>A (p.Gly1011Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298801G>ACA505784911CACNA1Ac.2832C>T (p.Ser944=)
c.2838C>T (p.Ser946=)
c.2835C>T (p.Ser945=)
c.2844C>T (p.Ser948=)
c.2694C>T (p.Ser898=)
c.3030C>T (p.Ser1010=)
 dbSNP gnomAD v2 gnomAD v4
19g.13298801G>CCA404342626CACNA1Ac.2832C>G (p.Ser944Arg)
c.2838C>G (p.Ser946Arg)
c.2835C>G (p.Ser945Arg)
c.2844C>G (p.Ser948Arg)
c.2694C>G (p.Ser898Arg)
c.3030C>G (p.Ser1010Arg)
19g.13298801G=CA2323826072CACNA1Ac.2832C= (p.Ser944=)
c.2838C= (p.Ser946=)
c.2835C= (p.Ser945=)
c.2844C= (p.Ser948=)
c.2694C= (p.Ser898=)
c.3030C= (p.Ser1010=)
19g.13298801G>TCA404342627CACNA1Ac.2832C>A (p.Ser944Arg)
c.2838C>A (p.Ser946Arg)
c.2835C>A (p.Ser945Arg)
c.2844C>A (p.Ser948Arg)
c.2694C>A (p.Ser898Arg)
c.3030C>A (p.Ser1010Arg)
 gnomAD v4
19g.13298802C>ACA404342628CACNA1Ac.2831G>T (p.Ser944Ile)
c.2837G>T (p.Ser946Ile)
c.2834G>T (p.Ser945Ile)
c.2843G>T (p.Ser948Ile)
c.2693G>T (p.Ser898Ile)
c.3029G>T (p.Ser1010Ile)
 gnomAD v4
19g.13298802C>GCA404342629CACNA1Ac.2831G>C (p.Ser944Thr)
c.2837G>C (p.Ser946Thr)
c.2834G>C (p.Ser945Thr)
c.2843G>C (p.Ser948Thr)
c.2693G>C (p.Ser898Thr)
c.3029G>C (p.Ser1010Thr)
19g.13298802C>TCA404342630CACNA1Ac.2831G>A (p.Ser944Asn)
c.2837G>A (p.Ser946Asn)
c.2834G>A (p.Ser945Asn)
c.2843G>A (p.Ser948Asn)
c.2693G>A (p.Ser898Asn)
c.3029G>A (p.Ser1010Asn)
19g.13298803T>ACA404342631CACNA1Ac.2830A>T (p.Ser944Cys)
c.2836A>T (p.Ser946Cys)
c.2833A>T (p.Ser945Cys)
c.2842A>T (p.Ser948Cys)
c.2692A>T (p.Ser898Cys)
c.3028A>T (p.Ser1010Cys)
 ClinVar
19g.13298803T>CCA404342632CACNA1Ac.2830A>G (p.Ser944Gly)
c.2836A>G (p.Ser946Gly)
c.2833A>G (p.Ser945Gly)
c.2842A>G (p.Ser948Gly)
c.2692A>G (p.Ser898Gly)
c.3028A>G (p.Ser1010Gly)
19g.13298803T>GCA404342633CACNA1Ac.2830A>C (p.Ser944Arg)
c.2836A>C (p.Ser946Arg)
c.2833A>C (p.Ser945Arg)
c.2842A>C (p.Ser948Arg)
c.2692A>C (p.Ser898Arg)
c.3028A>C (p.Ser1010Arg)
19g.13298804G>ACA505784916CACNA1Ac.2829C>T (p.Arg943=)
c.2835C>T (p.Arg945=)
c.2832C>T (p.Arg944=)
c.2841C>T (p.Arg947=)
c.2691C>T (p.Arg897=)
c.3027C>T (p.Arg1009=)
19g.13298804G>CCA505784917CACNA1Ac.2829C>G (p.Arg943=)
c.2835C>G (p.Arg945=)
c.2832C>G (p.Arg944=)
c.2841C>G (p.Arg947=)
c.2691C>G (p.Arg897=)
c.3027C>G (p.Arg1009=)
 gnomAD v4
19g.13298804G>TCA505784919CACNA1Ac.2829C>A (p.Arg943=)
c.2835C>A (p.Arg945=)
c.2832C>A (p.Arg944=)
c.2841C>A (p.Arg947=)
c.2691C>A (p.Arg897=)
c.3027C>A (p.Arg1009=)
19g.13298805C>ACA404342634CACNA1Ac.2828G>T (p.Arg943Leu)
c.2834G>T (p.Arg945Leu)
c.2831G>T (p.Arg944Leu)
c.2840G>T (p.Arg947Leu)
c.2690G>T (p.Arg897Leu)
c.3026G>T (p.Arg1009Leu)
 gnomAD v4
19g.13298805C=CA2323826074CACNA1Ac.2828G= (p.Arg943=)
c.2834G= (p.Arg945=)
c.2831G= (p.Arg944=)
c.2840G= (p.Arg947=)
c.2690G= (p.Arg897=)
c.3026G= (p.Arg1009=)
19g.13298805C>GCA404342635CACNA1Ac.2828G>C (p.Arg943Pro)
c.2834G>C (p.Arg945Pro)
c.2831G>C (p.Arg944Pro)
c.2840G>C (p.Arg947Pro)
c.2690G>C (p.Arg897Pro)
c.3026G>C (p.Arg1009Pro)
 gnomAD v4
19g.13298805C>TCA9240463CACNA1Ac.2828G>A (p.Arg943His)
c.2834G>A (p.Arg945His)
c.2831G>A (p.Arg944His)
c.2840G>A (p.Arg947His)
c.2690G>A (p.Arg897His)
c.3026G>A (p.Arg1009His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298806G>ACA9240464CACNA1Ac.2827C>T (p.Arg943Cys)
c.2833C>T (p.Arg945Cys)
c.2830C>T (p.Arg944Cys)
c.2839C>T (p.Arg947Cys)
c.2689C>T (p.Arg897Cys)
c.3025C>T (p.Arg1009Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298806G>CCA404342637CACNA1Ac.2827C>G (p.Arg943Gly)
c.2833C>G (p.Arg945Gly)
c.2830C>G (p.Arg944Gly)
c.2839C>G (p.Arg947Gly)
c.2689C>G (p.Arg897Gly)
c.3025C>G (p.Arg1009Gly)
19g.13298806G=CA2323826075CACNA1Ac.2827C= (p.Arg943=)
c.2833C= (p.Arg945=)
c.2830C= (p.Arg944=)
c.2839C= (p.Arg947=)
c.2689C= (p.Arg897=)
c.3025C= (p.Arg1009=)
19g.13298806G>TCA404342636CACNA1Ac.2827C>A (p.Arg943Ser)
c.2833C>A (p.Arg945Ser)
c.2830C>A (p.Arg944Ser)
c.2839C>A (p.Arg947Ser)
c.2689C>A (p.Arg897Ser)
c.3025C>A (p.Arg1009Ser)
 gnomAD v4
19g.13298807G>ACA9240465CACNA1Ac.2826C>T (p.Ser942=)
c.2832C>T (p.Ser944=)
c.2829C>T (p.Ser943=)
c.2838C>T (p.Ser946=)
c.2688C>T (p.Ser896=)
c.3024C>T (p.Ser1008=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298807G>CCA404342638CACNA1Ac.2826C>G (p.Ser942Arg)
c.2832C>G (p.Ser944Arg)
c.2829C>G (p.Ser943Arg)
c.2838C>G (p.Ser946Arg)
c.2688C>G (p.Ser896Arg)
c.3024C>G (p.Ser1008Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.13298807G=CA2323826078CACNA1Ac.2826C= (p.Ser942=)
c.2832C= (p.Ser944=)
c.2829C= (p.Ser943=)
c.2838C= (p.Ser946=)
c.2688C= (p.Ser896=)
c.3024C= (p.Ser1008=)
19g.13298807G>TCA404342639CACNA1Ac.2826C>A (p.Ser942Arg)
c.2832C>A (p.Ser944Arg)
c.2829C>A (p.Ser943Arg)
c.2838C>A (p.Ser946Arg)
c.2688C>A (p.Ser896Arg)
c.3024C>A (p.Ser1008Arg)
 gnomAD v4
19g.13298808C>ACA404342640CACNA1Ac.2825G>T (p.Ser942Ile)
c.2831G>T (p.Ser944Ile)
c.2828G>T (p.Ser943Ile)
c.2837G>T (p.Ser946Ile)
c.2687G>T (p.Ser896Ile)
c.3023G>T (p.Ser1008Ile)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298808C=CA2323826081CACNA1Ac.2825G= (p.Ser942=)
c.2831G= (p.Ser944=)
c.2828G= (p.Ser943=)
c.2837G= (p.Ser946=)
c.2687G= (p.Ser896=)
c.3023G= (p.Ser1008=)
19g.13298808C>GCA404342641CACNA1Ac.2825G>C (p.Ser942Thr)
c.2831G>C (p.Ser944Thr)
c.2828G>C (p.Ser943Thr)
c.2837G>C (p.Ser946Thr)
c.2687G>C (p.Ser896Thr)
c.3023G>C (p.Ser1008Thr)
19g.13298808C>TCA404342642CACNA1Ac.2825G>A (p.Ser942Asn)
c.2831G>A (p.Ser944Asn)
c.2828G>A (p.Ser943Asn)
c.2837G>A (p.Ser946Asn)
c.2687G>A (p.Ser896Asn)
c.3023G>A (p.Ser1008Asn)
 dbSNP gnomAD v2 gnomAD v4
19g.13298809T>ACA404342643CACNA1Ac.2824A>T (p.Ser942Cys)
c.2830A>T (p.Ser944Cys)
c.2827A>T (p.Ser943Cys)
c.2836A>T (p.Ser946Cys)
c.2686A>T (p.Ser896Cys)
c.3022A>T (p.Ser1008Cys)
 COSMIC COSMIC COSMIC COSMIC
19g.13298809T>CCA404342644CACNA1Ac.2824A>G (p.Ser942Gly)
c.2830A>G (p.Ser944Gly)
c.2827A>G (p.Ser943Gly)
c.2836A>G (p.Ser946Gly)
c.2686A>G (p.Ser896Gly)
c.3022A>G (p.Ser1008Gly)
 gnomAD v4
19g.13298809T>GCA404342645CACNA1Ac.2824A>C (p.Ser942Arg)
c.2830A>C (p.Ser944Arg)
c.2827A>C (p.Ser943Arg)
c.2836A>C (p.Ser946Arg)
c.2686A>C (p.Ser896Arg)
c.3022A>C (p.Ser1008Arg)
19g.13298810C>ACA404342646CACNA1Ac.2823G>T (p.Glu941Asp)
c.2829G>T (p.Glu943Asp)
c.2826G>T (p.Glu942Asp)
c.2835G>T (p.Glu945Asp)
c.2685G>T (p.Glu895Asp)
c.3021G>T (p.Glu1007Asp)
 gnomAD v4
19g.13298810C=CA2323826083CACNA1Ac.2823G= (p.Glu941=)
c.2829G= (p.Glu943=)
c.2826G= (p.Glu942=)
c.2835G= (p.Glu945=)
c.2685G= (p.Glu895=)
c.3021G= (p.Glu1007=)
19g.13298810C>GCA9240467CACNA1Ac.2823G>C (p.Glu941Asp)
c.2829G>C (p.Glu943Asp)
c.2826G>C (p.Glu942Asp)
c.2835G>C (p.Glu945Asp)
c.2685G>C (p.Glu895Asp)
c.3021G>C (p.Glu1007Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298810C>TCA9240466CACNA1Ac.2823G>A (p.Glu941=)
c.2829G>A (p.Glu943=)
c.2826G>A (p.Glu942=)
c.2835G>A (p.Glu945=)
c.2685G>A (p.Glu895=)
c.3021G>A (p.Glu1007=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298811T>ACA404342649CACNA1Ac.2822A>T (p.Glu941Val)
c.2828A>T (p.Glu943Val)
c.2825A>T (p.Glu942Val)
c.2834A>T (p.Glu945Val)
c.2684A>T (p.Glu895Val)
c.3020A>T (p.Glu1007Val)
19g.13298811T>CCA404342648CACNA1Ac.2822A>G (p.Glu941Gly)
c.2828A>G (p.Glu943Gly)
c.2825A>G (p.Glu942Gly)
c.2834A>G (p.Glu945Gly)
c.2684A>G (p.Glu895Gly)
c.3020A>G (p.Glu1007Gly)
 gnomAD v4
19g.13298811T>GCA404342647CACNA1Ac.2822A>C (p.Glu941Ala)
c.2828A>C (p.Glu943Ala)
c.2825A>C (p.Glu942Ala)
c.2834A>C (p.Glu945Ala)
c.2684A>C (p.Glu895Ala)
c.3020A>C (p.Glu1007Ala)
19g.13298812C>ACA404342650CACNA1Ac.2821G>T (p.Glu941Ter)
c.2827G>T (p.Glu943Ter)
c.2824G>T (p.Glu942Ter)
c.2833G>T (p.Glu945Ter)
c.2683G>T (p.Glu895Ter)
c.3019G>T (p.Glu1007Ter)
19g.13298812C>GCA404342651CACNA1Ac.2821G>C (p.Glu941Gln)
c.2827G>C (p.Glu943Gln)
c.2824G>C (p.Glu942Gln)
c.2833G>C (p.Glu945Gln)
c.2683G>C (p.Glu895Gln)
c.3019G>C (p.Glu1007Gln)
 ClinVar gnomAD v4
19g.13298812C>TCA404342652CACNA1Ac.2821G>A (p.Glu941Lys)
c.2827G>A (p.Glu943Lys)
c.2824G>A (p.Glu942Lys)
c.2833G>A (p.Glu945Lys)
c.2683G>A (p.Glu895Lys)
c.3019G>A (p.Glu1007Lys)
 gnomAD v4
19g.13298813C>ACA404342653CACNA1Ac.2820G>T (p.Arg940Ser)
c.2826G>T (p.Arg942Ser)
c.2823G>T (p.Arg941Ser)
c.2832G>T (p.Arg944Ser)
c.2682G>T (p.Arg894Ser)
c.3018G>T (p.Arg1006Ser)
 gnomAD v4
19g.13298813C>GCA404342654CACNA1Ac.2820G>C (p.Arg940Ser)
c.2826G>C (p.Arg942Ser)
c.2823G>C (p.Arg941Ser)
c.2832G>C (p.Arg944Ser)
c.2682G>C (p.Arg894Ser)
c.3018G>C (p.Arg1006Ser)
19g.13298813C>TCA505784940CACNA1Ac.2820G>A (p.Arg940=)
c.2826G>A (p.Arg942=)
c.2823G>A (p.Arg941=)
c.2832G>A (p.Arg944=)
c.2682G>A (p.Arg894=)
c.3018G>A (p.Arg1006=)
 ClinVar
19g.13298814C>ACA404342655CACNA1Ac.2819G>T (p.Arg940Met)
c.2825G>T (p.Arg942Met)
c.2822G>T (p.Arg941Met)
c.2831G>T (p.Arg944Met)
c.2681G>T (p.Arg894Met)
c.3017G>T (p.Arg1006Met)
 gnomAD v4
19g.13298814C=CA2323825722CACNA1Ac.2819G= (p.Arg940=)
c.2825G= (p.Arg942=)
c.2822G= (p.Arg941=)
c.2831G= (p.Arg944=)
c.2681G= (p.Arg894=)
c.3017G= (p.Arg1006=)
19g.13298814C>GCA404342656CACNA1Ac.2819G>C (p.Arg940Thr)
c.2825G>C (p.Arg942Thr)
c.2822G>C (p.Arg941Thr)
c.2831G>C (p.Arg944Thr)
c.2681G>C (p.Arg894Thr)
c.3017G>C (p.Arg1006Thr)
19g.13298814C>TCA404342657CACNA1Ac.2819G>A (p.Arg940Lys)
c.2825G>A (p.Arg942Lys)
c.2822G>A (p.Arg941Lys)
c.2831G>A (p.Arg944Lys)
c.2681G>A (p.Arg894Lys)
c.3017G>A (p.Arg1006Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.13298815T>ACA404342658CACNA1Ac.2818A>T (p.Arg940Trp)
c.2824A>T (p.Arg942Trp)
c.2821A>T (p.Arg941Trp)
c.2830A>T (p.Arg944Trp)
c.2680A>T (p.Arg894Trp)
c.3016A>T (p.Arg1006Trp)
19g.13298815T>CCA9240468CACNA1Ac.2818A>G (p.Arg940Gly)
c.2824A>G (p.Arg942Gly)
c.2821A>G (p.Arg941Gly)
c.2830A>G (p.Arg944Gly)
c.2680A>G (p.Arg894Gly)
c.3016A>G (p.Arg1006Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298815T>GCA505784944CACNA1Ac.2818A>C (p.Arg940=)
c.2824A>C (p.Arg942=)
c.2821A>C (p.Arg941=)
c.2830A>C (p.Arg944=)
c.2680A>C (p.Arg894=)
c.3016A>C (p.Arg1006=)
19g.13298815T=CA2323825736CACNA1Ac.2818A= (p.Arg940=)
c.2824A= (p.Arg942=)
c.2821A= (p.Arg941=)
c.2830A= (p.Arg944=)
c.2680A= (p.Arg894=)
c.3016A= (p.Arg1006=)
19g.13298816G>ACA505784946CACNA1Ac.2817C>T (p.Ser939=)
c.2823C>T (p.Ser941=)
c.2820C>T (p.Ser940=)
c.2829C>T (p.Ser943=)
c.2679C>T (p.Ser893=)
c.3015C>T (p.Ser1005=)
 gnomAD v4
19g.13298816G>CCA404342659CACNA1Ac.2817C>G (p.Ser939Arg)
c.2823C>G (p.Ser941Arg)
c.2820C>G (p.Ser940Arg)
c.2829C>G (p.Ser943Arg)
c.2679C>G (p.Ser893Arg)
c.3015C>G (p.Ser1005Arg)
 gnomAD v4
19g.13298816G>TCA404342660CACNA1Ac.2817C>A (p.Ser939Arg)
c.2823C>A (p.Ser941Arg)
c.2820C>A (p.Ser940Arg)
c.2829C>A (p.Ser943Arg)
c.2679C>A (p.Ser893Arg)
c.3015C>A (p.Ser1005Arg)
 gnomAD v4
19g.13298817C>ACA404342661CACNA1Ac.2816G>T (p.Ser939Ile)
c.2822G>T (p.Ser941Ile)
c.2819G>T (p.Ser940Ile)
c.2828G>T (p.Ser943Ile)
c.2678G>T (p.Ser893Ile)
c.3014G>T (p.Ser1005Ile)
 dbSNP gnomAD v4
19g.13298817C=CA2323825738CACNA1Ac.2816G= (p.Ser939=)
c.2822G= (p.Ser941=)
c.2819G= (p.Ser940=)
c.2828G= (p.Ser943=)
c.2678G= (p.Ser893=)
c.3014G= (p.Ser1005=)
19g.13298817C>GCA404342663CACNA1Ac.2816G>C (p.Ser939Thr)
c.2822G>C (p.Ser941Thr)
c.2819G>C (p.Ser940Thr)
c.2828G>C (p.Ser943Thr)
c.2678G>C (p.Ser893Thr)
c.3014G>C (p.Ser1005Thr)
19g.13298817C>TCA404342662CACNA1Ac.2816G>A (p.Ser939Asn)
c.2822G>A (p.Ser941Asn)
c.2819G>A (p.Ser940Asn)
c.2828G>A (p.Ser943Asn)
c.2678G>A (p.Ser893Asn)
c.3014G>A (p.Ser1005Asn)
 gnomAD v4
19g.13298818T>ACA404342664CACNA1Ac.2815A>T (p.Ser939Cys)
c.2821A>T (p.Ser941Cys)
c.2818A>T (p.Ser940Cys)
c.2827A>T (p.Ser943Cys)
c.2677A>T (p.Ser893Cys)
c.3013A>T (p.Ser1005Cys)
19g.13298818T>CCA404342666CACNA1Ac.2815A>G (p.Ser939Gly)
c.2821A>G (p.Ser941Gly)
c.2818A>G (p.Ser940Gly)
c.2827A>G (p.Ser943Gly)
c.2677A>G (p.Ser893Gly)
c.3013A>G (p.Ser1005Gly)
 gnomAD v4
19g.13298818T>GCA404342665CACNA1Ac.2815A>C (p.Ser939Arg)
c.2821A>C (p.Ser941Arg)
c.2818A>C (p.Ser940Arg)
c.2827A>C (p.Ser943Arg)
c.2677A>C (p.Ser893Arg)
c.3013A>C (p.Ser1005Arg)
19g.13298818T=CA2323825739CACNA1Ac.2815A= (p.Ser939=)
c.2821A= (p.Ser941=)
c.2818A= (p.Ser940=)
c.2827A= (p.Ser943=)
c.2677A= (p.Ser893=)
c.3013A= (p.Ser1005=)
19g.13298819G>ACA505784957CACNA1Ac.2814C>T (p.Gly938=)
c.2820C>T (p.Gly940=)
c.2817C>T (p.Gly939=)
c.2826C>T (p.Gly942=)
c.2676C>T (p.Gly892=)
c.3012C>T (p.Gly1004=)
 gnomAD v4
19g.13298819G>CCA505784956CACNA1Ac.2814C>G (p.Gly938=)
c.2820C>G (p.Gly940=)
c.2817C>G (p.Gly939=)
c.2826C>G (p.Gly942=)
c.2676C>G (p.Gly892=)
c.3012C>G (p.Gly1004=)
 gnomAD v4
19g.13298819G=CA2323825742CACNA1Ac.2814C= (p.Gly938=)
c.2820C= (p.Gly940=)
c.2817C= (p.Gly939=)
c.2826C= (p.Gly942=)
c.2676C= (p.Gly892=)
c.3012C= (p.Gly1004=)
19g.13298819G>TCA505784951CACNA1Ac.2814C>A (p.Gly938=)
c.2820C>A (p.Gly940=)
c.2817C>A (p.Gly939=)
c.2826C>A (p.Gly942=)
c.2676C>A (p.Gly892=)
c.3012C>A (p.Gly1004=)
 gnomAD v4
19g.13298820_13298830dupCA915952496CACNA1Ac.2804_2814dup (p.Ser939GlyfsTer?)
c.2810_2820dup (p.Ser941GlyfsTer?)
c.2807_2817dup (p.Ser940GlyfsTer?)
c.2816_2826dup (p.Ser943GlyfsTer?)
c.2666_2676dup (p.Ser893GlyfsTer?)
c.3002_3012dup (p.Ser1005GlyfsTer?)
 ClinVar dbSNP
19g.13298820C>ACA9240469CACNA1Ac.2813G>T (p.Gly938Val)
c.2819G>T (p.Gly940Val)
c.2816G>T (p.Gly939Val)
c.2825G>T (p.Gly942Val)
c.2675G>T (p.Gly892Val)
c.3011G>T (p.Gly1004Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298820C=CA2323825748CACNA1Ac.2813G= (p.Gly938=)
c.2819G= (p.Gly940=)
c.2816G= (p.Gly939=)
c.2825G= (p.Gly942=)
c.2675G= (p.Gly892=)
c.3011G= (p.Gly1004=)
19g.13298820C>GCA404342667CACNA1Ac.2813G>C (p.Gly938Ala)
c.2819G>C (p.Gly940Ala)
c.2816G>C (p.Gly939Ala)
c.2825G>C (p.Gly942Ala)
c.2675G>C (p.Gly892Ala)
c.3011G>C (p.Gly1004Ala)
 gnomAD v4
19g.13298820C>TCA305506307CACNA1Ac.2813G>A (p.Gly938Asp)
c.2819G>A (p.Gly940Asp)
c.2816G>A (p.Gly939Asp)
c.2825G>A (p.Gly942Asp)
c.2675G>A (p.Gly892Asp)
c.3011G>A (p.Gly1004Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.13298825dupCA254464CACNA1Ac.2813dup (p.Ser939GlnfsTer?)
c.2819dup (p.Ser941GlnfsTer?)
c.2816dup (p.Ser940GlnfsTer?)
c.2825dup (p.Ser943GlnfsTer?)
c.2675dup (p.Ser893GlnfsTer?)
c.3011dup (p.Ser1005GlnfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.13298825delCA505784961CACNA1Ac.2813del (p.Gly938AlafsTer?)
c.2819del (p.Gly940AlafsTer?)
c.2816del (p.Gly939AlafsTer?)
c.2825del (p.Gly942AlafsTer?)
c.2675del (p.Gly892AlafsTer?)
c.3011del (p.Gly1004AlafsTer?)
 ClinVar gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298824_13298825delCA915952497CACNA1Ac.2812_2813del (p.Gly938GlnfsTer?)
c.2818_2819del (p.Gly940GlnfsTer?)
c.2815_2816del (p.Gly939GlnfsTer?)
c.2824_2825del (p.Gly942GlnfsTer?)
c.2674_2675del (p.Gly892GlnfsTer?)
c.3010_3011del (p.Gly1004GlnfsTer?)
 ClinVar
19g.13298821C>ACA404342668CACNA1Ac.2812G>T (p.Gly938Cys)
c.2818G>T (p.Gly940Cys)
c.2815G>T (p.Gly939Cys)
c.2824G>T (p.Gly942Cys)
c.2674G>T (p.Gly892Cys)
c.3010G>T (p.Gly1004Cys)
 gnomAD v4
19g.13298821C=CA2323825752CACNA1Ac.2812G= (p.Gly938=)
c.2818G= (p.Gly940=)
c.2815G= (p.Gly939=)
c.2824G= (p.Gly942=)
c.2674G= (p.Gly892=)
c.3010G= (p.Gly1004=)
19g.13298821C>GCA9240470CACNA1Ac.2812G>C (p.Gly938Arg)
c.2818G>C (p.Gly940Arg)
c.2815G>C (p.Gly939Arg)
c.2824G>C (p.Gly942Arg)
c.2674G>C (p.Gly892Arg)
c.3010G>C (p.Gly1004Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298821C>TCA404342669CACNA1Ac.2812G>A (p.Gly938Ser)
c.2818G>A (p.Gly940Ser)
c.2815G>A (p.Gly939Ser)
c.2824G>A (p.Gly942Ser)
c.2674G>A (p.Gly892Ser)
c.3010G>A (p.Gly1004Ser)
19g.13298822C>ACA505784969CACNA1Ac.2811G>T (p.Gly937=)
c.2817G>T (p.Gly939=)
c.2814G>T (p.Gly938=)
c.2823G>T (p.Gly941=)
c.2673G>T (p.Gly891=)
c.3009G>T (p.Gly1003=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298822C=CA2323825754CACNA1Ac.2811G= (p.Gly937=)
c.2817G= (p.Gly939=)
c.2814G= (p.Gly938=)
c.2823G= (p.Gly941=)
c.2673G= (p.Gly891=)
c.3009G= (p.Gly1003=)
19g.13298822C>GCA505784968CACNA1Ac.2811G>C (p.Gly937=)
c.2817G>C (p.Gly939=)
c.2814G>C (p.Gly938=)
c.2823G>C (p.Gly941=)
c.2673G>C (p.Gly891=)
c.3009G>C (p.Gly1003=)
 ClinVar
19g.13298822C>TCA505784967CACNA1Ac.2811G>A (p.Gly937=)
c.2817G>A (p.Gly939=)
c.2814G>A (p.Gly938=)
c.2823G>A (p.Gly941=)
c.2673G>A (p.Gly891=)
c.3009G>A (p.Gly1003=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298823C>ACA9240471CACNA1Ac.2810G>T (p.Gly937Val)
c.2816G>T (p.Gly939Val)
c.2813G>T (p.Gly938Val)
c.2822G>T (p.Gly941Val)
c.2672G>T (p.Gly891Val)
c.3008G>T (p.Gly1003Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298823C=CA2323825756CACNA1Ac.2810G= (p.Gly937=)
c.2816G= (p.Gly939=)
c.2813G= (p.Gly938=)
c.2822G= (p.Gly941=)
c.2672G= (p.Gly891=)
c.3008G= (p.Gly1003=)
19g.13298823C>GCA404342670CACNA1Ac.2810G>C (p.Gly937Ala)
c.2816G>C (p.Gly939Ala)
c.2813G>C (p.Gly938Ala)
c.2822G>C (p.Gly941Ala)
c.2672G>C (p.Gly891Ala)
c.3008G>C (p.Gly1003Ala)
19g.13298823C>TCA404342671CACNA1Ac.2810G>A (p.Gly937Glu)
c.2816G>A (p.Gly939Glu)
c.2813G>A (p.Gly938Glu)
c.2822G>A (p.Gly941Glu)
c.2672G>A (p.Gly891Glu)
c.3008G>A (p.Gly1003Glu)
 gnomAD v4
19g.13298824C>ACA305506315CACNA1Ac.2809G>T (p.Gly937Trp)
c.2815G>T (p.Gly939Trp)
c.2812G>T (p.Gly938Trp)
c.2821G>T (p.Gly941Trp)
c.2671G>T (p.Gly891Trp)
c.3007G>T (p.Gly1003Trp)
 dbSNP gnomAD v3 gnomAD v4
19g.13298824C=CA2323825758CACNA1Ac.2809G= (p.Gly937=)
c.2815G= (p.Gly939=)
c.2812G= (p.Gly938=)
c.2821G= (p.Gly941=)
c.2671G= (p.Gly891=)
c.3007G= (p.Gly1003=)
19g.13298824C>GCA9240472CACNA1Ac.2809G>C (p.Gly937Arg)
c.2815G>C (p.Gly939Arg)
c.2812G>C (p.Gly938Arg)
c.2821G>C (p.Gly941Arg)
c.2671G>C (p.Gly891Arg)
c.3007G>C (p.Gly1003Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298824C>TCA404342672CACNA1Ac.2809G>A (p.Gly937Arg)
c.2815G>A (p.Gly939Arg)
c.2812G>A (p.Gly938Arg)
c.2821G>A (p.Gly941Arg)
c.2671G>A (p.Gly891Arg)
c.3007G>A (p.Gly1003Arg)
 dbSNP gnomAD v4
19g.13298825C>ACA404342673CACNA1Ac.2808G>T (p.Gln936His)
c.2814G>T (p.Gln938His)
c.2811G>T (p.Gln937His)
c.2820G>T (p.Gln940His)
c.2670G>T (p.Gln890His)
c.3006G>T (p.Gln1002His)
 ClinVar dbSNP gnomAD v4
19g.13298825C=CA2323825760CACNA1Ac.2808G= (p.Gln936=)
c.2814G= (p.Gln938=)
c.2811G= (p.Gln937=)
c.2820G= (p.Gln940=)
c.2670G= (p.Gln890=)
c.3006G= (p.Gln1002=)
19g.13298825C>GCA404342674CACNA1Ac.2808G>C (p.Gln936His)
c.2814G>C (p.Gln938His)
c.2811G>C (p.Gln937His)
c.2820G>C (p.Gln940His)
c.2670G>C (p.Gln890His)
c.3006G>C (p.Gln1002His)
 dbSNP gnomAD v2 gnomAD v4
19g.13298825C>TCA505784977CACNA1Ac.2808G>A (p.Gln936=)
c.2814G>A (p.Gln938=)
c.2811G>A (p.Gln937=)
c.2820G>A (p.Gln940=)
c.2670G>A (p.Gln890=)
c.3006G>A (p.Gln1002=)
 gnomAD v4
19g.13298826T>ACA404342677CACNA1Ac.2807A>T (p.Gln936Leu)
c.2813A>T (p.Gln938Leu)
c.2810A>T (p.Gln937Leu)
c.2819A>T (p.Gln940Leu)
c.2669A>T (p.Gln890Leu)
c.3005A>T (p.Gln1002Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298826T>CCA404342675CACNA1Ac.2807A>G (p.Gln936Arg)
c.2813A>G (p.Gln938Arg)
c.2810A>G (p.Gln937Arg)
c.2819A>G (p.Gln940Arg)
c.2669A>G (p.Gln890Arg)
c.3005A>G (p.Gln1002Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298826T>GCA404342676CACNA1Ac.2807A>C (p.Gln936Pro)
c.2813A>C (p.Gln938Pro)
c.2810A>C (p.Gln937Pro)
c.2819A>C (p.Gln940Pro)
c.2669A>C (p.Gln890Pro)
c.3005A>C (p.Gln1002Pro)
 dbSNP
19g.13298826T=CA2323825762CACNA1Ac.2807A= (p.Gln936=)
c.2813A= (p.Gln938=)
c.2810A= (p.Gln937=)
c.2819A= (p.Gln940=)
c.2669A= (p.Gln890=)
c.3005A= (p.Gln1002=)
19g.13298827G>ACA404342678CACNA1Ac.2806C>T (p.Gln936Ter)
c.2812C>T (p.Gln938Ter)
c.2809C>T (p.Gln937Ter)
c.2818C>T (p.Gln940Ter)
c.2668C>T (p.Gln890Ter)
c.3004C>T (p.Gln1002Ter)
 ClinVar dbSNP gnomAD v4
19g.13298827G>CCA404342679CACNA1Ac.2806C>G (p.Gln936Glu)
c.2812C>G (p.Gln938Glu)
c.2809C>G (p.Gln937Glu)
c.2818C>G (p.Gln940Glu)
c.2668C>G (p.Gln890Glu)
c.3004C>G (p.Gln1002Glu)
 ClinVar dbSNP gnomAD v4
19g.13298827G=CA2323825763CACNA1Ac.2806C= (p.Gln936=)
c.2812C= (p.Gln938=)
c.2809C= (p.Gln937=)
c.2818C= (p.Gln940=)
c.2668C= (p.Gln890=)
c.3004C= (p.Gln1002=)
19g.13298827G>TCA404342680CACNA1Ac.2806C>A (p.Gln936Lys)
c.2812C>A (p.Gln938Lys)
c.2809C>A (p.Gln937Lys)
c.2818C>A (p.Gln940Lys)
c.2668C>A (p.Gln890Lys)
c.3004C>A (p.Gln1002Lys)
 ClinVar gnomAD v4
19g.13298828C>ACA505784982CACNA1Ac.2805G>T (p.Arg935=)
c.2811G>T (p.Arg937=)
c.2808G>T (p.Arg936=)
c.2817G>T (p.Arg939=)
c.2667G>T (p.Arg889=)
c.3003G>T (p.Arg1001=)
 ClinVar dbSNP gnomAD v4
19g.13298828C=CA2323825765CACNA1Ac.2805G= (p.Arg935=)
c.2811G= (p.Arg937=)
c.2808G= (p.Arg936=)
c.2817G= (p.Arg939=)
c.2667G= (p.Arg889=)
c.3003G= (p.Arg1001=)
19g.13298828C>GCA505784983CACNA1Ac.2805G>C (p.Arg935=)
c.2811G>C (p.Arg937=)
c.2808G>C (p.Arg936=)
c.2817G>C (p.Arg939=)
c.2667G>C (p.Arg889=)
c.3003G>C (p.Arg1001=)
19g.13298828C>TCA305506325CACNA1Ac.2805G>A (p.Arg935=)
c.2811G>A (p.Arg937=)
c.2808G>A (p.Arg936=)
c.2817G>A (p.Arg939=)
c.2667G>A (p.Arg889=)
c.3003G>A (p.Arg1001=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298829delCA2695228298CACNA1Ac.2805del (p.Gln936ArgfsTer?)
c.2811del (p.Gln938ArgfsTer?)
c.2808del (p.Gln937ArgfsTer?)
c.2817del (p.Gln940ArgfsTer?)
c.2667del (p.Gln890ArgfsTer?)
c.3003del (p.Gln1002ArgfsTer?)
19g.13298829C>ACA404342681CACNA1Ac.2804G>T (p.Arg935Leu)
c.2810G>T (p.Arg937Leu)
c.2807G>T (p.Arg936Leu)
c.2816G>T (p.Arg939Leu)
c.2666G>T (p.Arg889Leu)
c.3002G>T (p.Arg1001Leu)
 gnomAD v4
19g.13298829C=CA2323825768CACNA1Ac.2804G= (p.Arg935=)
c.2810G= (p.Arg937=)
c.2807G= (p.Arg936=)
c.2816G= (p.Arg939=)
c.2666G= (p.Arg889=)
c.3002G= (p.Arg1001=)
19g.13298829C>GCA404342682CACNA1Ac.2804G>C (p.Arg935Pro)
c.2810G>C (p.Arg937Pro)
c.2807G>C (p.Arg936Pro)
c.2816G>C (p.Arg939Pro)
c.2666G>C (p.Arg889Pro)
c.3002G>C (p.Arg1001Pro)
19g.13298829C>TCA9240473CACNA1Ac.2804G>A (p.Arg935Gln)
c.2810G>A (p.Arg937Gln)
c.2807G>A (p.Arg936Gln)
c.2816G>A (p.Arg939Gln)
c.2666G>A (p.Arg889Gln)
c.3002G>A (p.Arg1001Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298830G>ACA305506330CACNA1Ac.2803C>T (p.Arg935Trp)
c.2809C>T (p.Arg937Trp)
c.2806C>T (p.Arg936Trp)
c.2815C>T (p.Arg939Trp)
c.2665C>T (p.Arg889Trp)
c.3001C>T (p.Arg1001Trp)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298830G>CCA404342683CACNA1Ac.2803C>G (p.Arg935Gly)
c.2809C>G (p.Arg937Gly)
c.2806C>G (p.Arg936Gly)
c.2815C>G (p.Arg939Gly)
c.2665C>G (p.Arg889Gly)
c.3001C>G (p.Arg1001Gly)
 gnomAD v4
19g.13298830G=CA2323825770CACNA1Ac.2803C= (p.Arg935=)
c.2809C= (p.Arg937=)
c.2806C= (p.Arg936=)
c.2815C= (p.Arg939=)
c.2665C= (p.Arg889=)
c.3001C= (p.Arg1001=)
19g.13298830G>TCA505784985CACNA1Ac.2803C>A (p.Arg935=)
c.2809C>A (p.Arg937=)
c.2806C>A (p.Arg936=)
c.2815C>A (p.Arg939=)
c.2665C>A (p.Arg889=)
c.3001C>A (p.Arg1001=)
 dbSNP gnomAD v4
19g.13298833_13298853dupCA2582833355CACNA1Ac.2783_2803dup (p.His934_Arg935insProHisArgArgHisValHis)
c.2789_2809dup (p.His936_Arg937insProHisArgArgHisValHis)
c.2786_2806dup (p.His935_Arg936insProHisArgArgHisValHis)
c.2795_2815dup (p.His938_Arg939insProHisArgArgHisValHis)
c.2645_2665dup (p.His888_Arg889insProHisArgArgHisValHis)
c.2981_3001dup (p.His1000_Arg1001insProHisArgArgHisValHis)
 gnomAD v4
19g.13298831G>ACA505784986CACNA1Ac.2802C>T (p.His934=)
c.2808C>T (p.His936=)
c.2805C>T (p.His935=)
c.2814C>T (p.His938=)
c.2664C>T (p.His888=)
c.3000C>T (p.His1000=)
 gnomAD v4
19g.13298831G>CCA9240474CACNA1Ac.2802C>G (p.His934Gln)
c.2808C>G (p.His936Gln)
c.2805C>G (p.His935Gln)
c.2814C>G (p.His938Gln)
c.2664C>G (p.His888Gln)
c.3000C>G (p.His1000Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298831G=CA2323825772CACNA1Ac.2802C= (p.His934=)
c.2808C= (p.His936=)
c.2805C= (p.His935=)
c.2814C= (p.His938=)
c.2664C= (p.His888=)
c.3000C= (p.His1000=)
19g.13298831G>TCA404342684CACNA1Ac.2802C>A (p.His934Gln)
c.2808C>A (p.His936Gln)
c.2805C>A (p.His935Gln)
c.2814C>A (p.His938Gln)
c.2664C>A (p.His888Gln)
c.3000C>A (p.His1000Gln)
 gnomAD v3 gnomAD v4
19g.13298832T>ACA404342687CACNA1Ac.2801A>T (p.His934Leu)
c.2807A>T (p.His936Leu)
c.2804A>T (p.His935Leu)
c.2813A>T (p.His938Leu)
c.2663A>T (p.His888Leu)
c.2999A>T (p.His1000Leu)
19g.13298832T>CCA404342686CACNA1Ac.2801A>G (p.His934Arg)
c.2807A>G (p.His936Arg)
c.2804A>G (p.His935Arg)
c.2813A>G (p.His938Arg)
c.2663A>G (p.His888Arg)
c.2999A>G (p.His1000Arg)
 ClinVar
19g.13298832T>GCA404342685CACNA1Ac.2801A>C (p.His934Pro)
c.2807A>C (p.His936Pro)
c.2804A>C (p.His935Pro)
c.2813A>C (p.His938Pro)
c.2663A>C (p.His888Pro)
c.2999A>C (p.His1000Pro)
19g.13298833G>ACA404342688CACNA1Ac.2800C>T (p.His934Tyr)
c.2806C>T (p.His936Tyr)
c.2803C>T (p.His935Tyr)
c.2812C>T (p.His938Tyr)
c.2662C>T (p.His888Tyr)
c.2998C>T (p.His1000Tyr)
 gnomAD v4
19g.13298833G>CCA404342689CACNA1Ac.2800C>G (p.His934Asp)
c.2806C>G (p.His936Asp)
c.2803C>G (p.His935Asp)
c.2812C>G (p.His938Asp)
c.2662C>G (p.His888Asp)
c.2998C>G (p.His1000Asp)
19g.13298833G>TCA404342690CACNA1Ac.2800C>A (p.His934Asn)
c.2806C>A (p.His936Asn)
c.2803C>A (p.His935Asn)
c.2812C>A (p.His938Asn)
c.2662C>A (p.His888Asn)
c.2998C>A (p.His1000Asn)
19g.13298834C>ACA505784992CACNA1Ac.2799G>T (p.Val933=)
c.2805G>T (p.Val935=)
c.2802G>T (p.Val934=)
c.2811G>T (p.Val937=)
c.2661G>T (p.Val887=)
c.2997G>T (p.Val999=)
 gnomAD v4
19g.13298834C=CA2323825774CACNA1Ac.2799G= (p.Val933=)
c.2805G= (p.Val935=)
c.2802G= (p.Val934=)
c.2811G= (p.Val937=)
c.2661G= (p.Val887=)
c.2997G= (p.Val999=)
19g.13298834C>GCA505784996CACNA1Ac.2799G>C (p.Val933=)
c.2805G>C (p.Val935=)
c.2802G>C (p.Val934=)
c.2811G>C (p.Val937=)
c.2661G>C (p.Val887=)
c.2997G>C (p.Val999=)
19g.13298834C>TCA9240475CACNA1Ac.2799G>A (p.Val933=)
c.2805G>A (p.Val935=)
c.2802G>A (p.Val934=)
c.2811G>A (p.Val937=)
c.2661G>A (p.Val887=)
c.2997G>A (p.Val999=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298835A>CCA404342691CACNA1Ac.2798T>G (p.Val933Gly)
c.2804T>G (p.Val935Gly)
c.2801T>G (p.Val934Gly)
c.2810T>G (p.Val937Gly)
c.2660T>G (p.Val887Gly)
c.2996T>G (p.Val999Gly)
19g.13298835A>GCA404342692CACNA1Ac.2798T>C (p.Val933Ala)
c.2804T>C (p.Val935Ala)
c.2801T>C (p.Val934Ala)
c.2810T>C (p.Val937Ala)
c.2660T>C (p.Val887Ala)
c.2996T>C (p.Val999Ala)
19g.13298835A>TCA404342693CACNA1Ac.2798T>A (p.Val933Glu)
c.2804T>A (p.Val935Glu)
c.2801T>A (p.Val934Glu)
c.2810T>A (p.Val937Glu)
c.2660T>A (p.Val887Glu)
c.2996T>A (p.Val999Glu)
19g.13298836C>ACA404342694CACNA1Ac.2797G>T (p.Val933Leu)
c.2803G>T (p.Val935Leu)
c.2800G>T (p.Val934Leu)
c.2809G>T (p.Val937Leu)
c.2659G>T (p.Val887Leu)
c.2995G>T (p.Val999Leu)
19g.13298836C=CA2323825776CACNA1Ac.2797G= (p.Val933=)
c.2803G= (p.Val935=)
c.2800G= (p.Val934=)
c.2809G= (p.Val937=)
c.2659G= (p.Val887=)
c.2995G= (p.Val999=)
19g.13298836C>GCA404342695CACNA1Ac.2797G>C (p.Val933Leu)
c.2803G>C (p.Val935Leu)
c.2800G>C (p.Val934Leu)
c.2809G>C (p.Val937Leu)
c.2659G>C (p.Val887Leu)
c.2995G>C (p.Val999Leu)
19g.13298836C>TCA9240476CACNA1Ac.2797G>A (p.Val933Met)
c.2803G>A (p.Val935Met)
c.2800G>A (p.Val934Met)
c.2809G>A (p.Val937Met)
c.2659G>A (p.Val887Met)
c.2995G>A (p.Val999Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298837G>ACA9240478CACNA1Ac.2796C>T (p.His932=)
c.2802C>T (p.His934=)
c.2799C>T (p.His933=)
c.2808C>T (p.His936=)
c.2658C>T (p.His886=)
c.2994C>T (p.His998=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298837G>CCA404342696CACNA1Ac.2796C>G (p.His932Gln)
c.2802C>G (p.His934Gln)
c.2799C>G (p.His933Gln)
c.2808C>G (p.His936Gln)
c.2658C>G (p.His886Gln)
c.2994C>G (p.His998Gln)
 gnomAD v4
19g.13298837G=CA2323825779CACNA1Ac.2796C= (p.His932=)
c.2802C= (p.His934=)
c.2799C= (p.His933=)
c.2808C= (p.His936=)
c.2658C= (p.His886=)
c.2994C= (p.His998=)
19g.13298837G>TCA9240477CACNA1Ac.2796C>A (p.His932Gln)
c.2802C>A (p.His934Gln)
c.2799C>A (p.His933Gln)
c.2808C>A (p.His936Gln)
c.2658C>A (p.His886Gln)
c.2994C>A (p.His998Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298838T>ACA404342697CACNA1Ac.2795A>T (p.His932Leu)
c.2801A>T (p.His934Leu)
c.2798A>T (p.His933Leu)
c.2807A>T (p.His936Leu)
c.2657A>T (p.His886Leu)
c.2993A>T (p.His998Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.13298838T>CCA404342699CACNA1Ac.2795A>G (p.His932Arg)
c.2801A>G (p.His934Arg)
c.2798A>G (p.His933Arg)
c.2807A>G (p.His936Arg)
c.2657A>G (p.His886Arg)
c.2993A>G (p.His998Arg)
19g.13298838T>GCA404342698CACNA1Ac.2795A>C (p.His932Pro)
c.2801A>C (p.His934Pro)
c.2798A>C (p.His933Pro)
c.2807A>C (p.His936Pro)
c.2657A>C (p.His886Pro)
c.2993A>C (p.His998Pro)
19g.13298838T=CA2323825781CACNA1Ac.2795A= (p.His932=)
c.2801A= (p.His934=)
c.2798A= (p.His933=)
c.2807A= (p.His936=)
c.2657A= (p.His886=)
c.2993A= (p.His998=)
19g.13298839G>ACA404342700CACNA1Ac.2794C>T (p.His932Tyr)
c.2800C>T (p.His934Tyr)
c.2797C>T (p.His933Tyr)
c.2806C>T (p.His936Tyr)
c.2656C>T (p.His886Tyr)
c.2992C>T (p.His998Tyr)
 gnomAD v4
19g.13298839G>CCA404342701CACNA1Ac.2794C>G (p.His932Asp)
c.2800C>G (p.His934Asp)
c.2797C>G (p.His933Asp)
c.2806C>G (p.His936Asp)
c.2656C>G (p.His886Asp)
c.2992C>G (p.His998Asp)
19g.13298839G>TCA404342702CACNA1Ac.2794C>A (p.His932Asn)
c.2800C>A (p.His934Asn)
c.2797C>A (p.His933Asn)
c.2806C>A (p.His936Asn)
c.2656C>A (p.His886Asn)
c.2992C>A (p.His998Asn)
19g.13298840C>ACA404342703CACNA1Ac.2793G>T (p.Arg931Ser)
c.2799G>T (p.Arg933Ser)
c.2796G>T (p.Arg932Ser)
c.2805G>T (p.Arg935Ser)
c.2655G>T (p.Arg885Ser)
c.2991G>T (p.Arg997Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298840C=CA2323825782CACNA1Ac.2793G= (p.Arg931=)
c.2799G= (p.Arg933=)
c.2796G= (p.Arg932=)
c.2805G= (p.Arg935=)
c.2655G= (p.Arg885=)
c.2991G= (p.Arg997=)
19g.13298840C>GCA404342704CACNA1Ac.2793G>C (p.Arg931Ser)
c.2799G>C (p.Arg933Ser)
c.2796G>C (p.Arg932Ser)
c.2805G>C (p.Arg935Ser)
c.2655G>C (p.Arg885Ser)
c.2991G>C (p.Arg997Ser)
19g.13298840C>TCA505785012CACNA1Ac.2793G>A (p.Arg931=)
c.2799G>A (p.Arg933=)
c.2796G>A (p.Arg932=)
c.2805G>A (p.Arg935=)
c.2655G>A (p.Arg885=)
c.2991G>A (p.Arg997=)
 gnomAD v4
19g.13298841C>ACA404342705CACNA1Ac.2792G>T (p.Arg931Met)
c.2798G>T (p.Arg933Met)
c.2795G>T (p.Arg932Met)
c.2804G>T (p.Arg935Met)
c.2654G>T (p.Arg885Met)
c.2990G>T (p.Arg997Met)
 gnomAD v4
19g.13298841C>GCA404342706CACNA1Ac.2792G>C (p.Arg931Thr)
c.2798G>C (p.Arg933Thr)
c.2795G>C (p.Arg932Thr)
c.2804G>C (p.Arg935Thr)
c.2654G>C (p.Arg885Thr)
c.2990G>C (p.Arg997Thr)
19g.13298841C>TCA404342707CACNA1Ac.2792G>A (p.Arg931Lys)
c.2798G>A (p.Arg933Lys)
c.2795G>A (p.Arg932Lys)
c.2804G>A (p.Arg935Lys)
c.2654G>A (p.Arg885Lys)
c.2990G>A (p.Arg997Lys)
19g.13298842T>ACA404342708CACNA1Ac.2791A>T (p.Arg931Trp)
c.2797A>T (p.Arg933Trp)
c.2794A>T (p.Arg932Trp)
c.2803A>T (p.Arg935Trp)
c.2653A>T (p.Arg885Trp)
c.2989A>T (p.Arg997Trp)
19g.13298842T>CCA404342709CACNA1Ac.2791A>G (p.Arg931Gly)
c.2797A>G (p.Arg933Gly)
c.2794A>G (p.Arg932Gly)
c.2803A>G (p.Arg935Gly)
c.2653A>G (p.Arg885Gly)
c.2989A>G (p.Arg997Gly)
 gnomAD v4
19g.13298842T>GCA505785019CACNA1Ac.2791A>C (p.Arg931=)
c.2797A>C (p.Arg933=)
c.2794A>C (p.Arg932=)
c.2803A>C (p.Arg935=)
c.2653A>C (p.Arg885=)
c.2989A>C (p.Arg997=)
 dbSNP gnomAD v2
19g.13298842T=CA2323825784CACNA1Ac.2791A= (p.Arg931=)
c.2797A= (p.Arg933=)
c.2794A= (p.Arg932=)
c.2803A= (p.Arg935=)
c.2653A= (p.Arg885=)
c.2989A= (p.Arg997=)
19g.13298843C>ACA505785022CACNA1Ac.2790G>T (p.Arg930=)
c.2796G>T (p.Arg932=)
c.2793G>T (p.Arg931=)
c.2802G>T (p.Arg934=)
c.2652G>T (p.Arg884=)
c.2988G>T (p.Arg996=)
 gnomAD v4
19g.13298843C=CA2323825786CACNA1Ac.2790G= (p.Arg930=)
c.2796G= (p.Arg932=)
c.2793G= (p.Arg931=)
c.2802G= (p.Arg934=)
c.2652G= (p.Arg884=)
c.2988G= (p.Arg996=)
19g.13298843C>GCA505785023CACNA1Ac.2790G>C (p.Arg930=)
c.2796G>C (p.Arg932=)
c.2793G>C (p.Arg931=)
c.2802G>C (p.Arg934=)
c.2652G>C (p.Arg884=)
c.2988G>C (p.Arg996=)
 dbSNP
19g.13298843C>TCA505785024CACNA1Ac.2790G>A (p.Arg930=)
c.2796G>A (p.Arg932=)
c.2793G>A (p.Arg931=)
c.2802G>A (p.Arg934=)
c.2652G>A (p.Arg884=)
c.2988G>A (p.Arg996=)
19g.13298844C>ACA404342710CACNA1Ac.2789G>T (p.Arg930Leu)
c.2795G>T (p.Arg932Leu)
c.2792G>T (p.Arg931Leu)
c.2801G>T (p.Arg934Leu)
c.2651G>T (p.Arg884Leu)
c.2987G>T (p.Arg996Leu)
19g.13298844C=CA2323825787CACNA1Ac.2789G= (p.Arg930=)
c.2795G= (p.Arg932=)
c.2792G= (p.Arg931=)
c.2801G= (p.Arg934=)
c.2651G= (p.Arg884=)
c.2987G= (p.Arg996=)
19g.13298844C>GCA404342711CACNA1Ac.2789G>C (p.Arg930Pro)
c.2795G>C (p.Arg932Pro)
c.2792G>C (p.Arg931Pro)
c.2801G>C (p.Arg934Pro)
c.2651G>C (p.Arg884Pro)
c.2987G>C (p.Arg996Pro)
 ClinVar dbSNP gnomAD v4
19g.13298844C>TCA9240479CACNA1Ac.2789G>A (p.Arg930Gln)
c.2795G>A (p.Arg932Gln)
c.2792G>A (p.Arg931Gln)
c.2801G>A (p.Arg934Gln)
c.2651G>A (p.Arg884Gln)
c.2987G>A (p.Arg996Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298845G>ACA9240480CACNA1Ac.2788C>T (p.Arg930Trp)
c.2794C>T (p.Arg932Trp)
c.2791C>T (p.Arg931Trp)
c.2800C>T (p.Arg934Trp)
c.2650C>T (p.Arg884Trp)
c.2986C>T (p.Arg996Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298845G>CCA404342712CACNA1Ac.2788C>G (p.Arg930Gly)
c.2794C>G (p.Arg932Gly)
c.2791C>G (p.Arg931Gly)
c.2800C>G (p.Arg934Gly)
c.2650C>G (p.Arg884Gly)
c.2986C>G (p.Arg996Gly)
19g.13298845G=CA2323825789CACNA1Ac.2788C= (p.Arg930=)
c.2794C= (p.Arg932=)
c.2791C= (p.Arg931=)
c.2800C= (p.Arg934=)
c.2650C= (p.Arg884=)
c.2986C= (p.Arg996=)
19g.13298845G>TCA505785032CACNA1Ac.2788C>A (p.Arg930=)
c.2794C>A (p.Arg932=)
c.2791C>A (p.Arg931=)
c.2800C>A (p.Arg934=)
c.2650C>A (p.Arg884=)
c.2986C>A (p.Arg996=)
19g.13298846G>ACA505785034CACNA1Ac.2787C>T (p.His929=)
c.2793C>T (p.His931=)
c.2790C>T (p.His930=)
c.2799C>T (p.His933=)
c.2649C>T (p.His883=)
c.2985C>T (p.His995=)
 ClinVar dbSNP
19g.13298846G>CCA404342713CACNA1Ac.2787C>G (p.His929Gln)
c.2793C>G (p.His931Gln)
c.2790C>G (p.His930Gln)
c.2799C>G (p.His933Gln)
c.2649C>G (p.His883Gln)
c.2985C>G (p.His995Gln)
19g.13298846G=CA2323825791CACNA1Ac.2787C= (p.His929=)
c.2793C= (p.His931=)
c.2790C= (p.His930=)
c.2799C= (p.His933=)
c.2649C= (p.His883=)
c.2985C= (p.His995=)
19g.13298846G>TCA404342714CACNA1Ac.2787C>A (p.His929Gln)
c.2793C>A (p.His931Gln)
c.2790C>A (p.His930Gln)
c.2799C>A (p.His933Gln)
c.2649C>A (p.His883Gln)
c.2985C>A (p.His995Gln)
19g.13298847T>ACA404342715CACNA1Ac.2786A>T (p.His929Leu)
c.2792A>T (p.His931Leu)
c.2789A>T (p.His930Leu)
c.2798A>T (p.His933Leu)
c.2648A>T (p.His883Leu)
c.2984A>T (p.His995Leu)
 gnomAD v4
19g.13298847T>CCA404342716CACNA1Ac.2786A>G (p.His929Arg)
c.2792A>G (p.His931Arg)
c.2789A>G (p.His930Arg)
c.2798A>G (p.His933Arg)
c.2648A>G (p.His883Arg)
c.2984A>G (p.His995Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.13298847T>GCA404342717CACNA1Ac.2786A>C (p.His929Pro)
c.2792A>C (p.His931Pro)
c.2789A>C (p.His930Pro)
c.2798A>C (p.His933Pro)
c.2648A>C (p.His883Pro)
c.2984A>C (p.His995Pro)
19g.13298847T=CA2323825794CACNA1Ac.2786A= (p.His929=)
c.2792A= (p.His931=)
c.2789A= (p.His930=)
c.2798A= (p.His933=)
c.2648A= (p.His883=)
c.2984A= (p.His995=)
19g.13298847_13298848insACA658799159CACNA1Ac.2785_2786insT (p.His929LeufsTer?)
c.2791_2792insT (p.His931LeufsTer?)
c.2788_2789insT (p.His930LeufsTer?)
c.2797_2798insT (p.His933LeufsTer?)
c.2647_2648insT (p.His883LeufsTer?)
c.2983_2984insT (p.His995LeufsTer?)
 ClinVar dbSNP
19g.13298848G>ACA404342718CACNA1Ac.2785C>T (p.His929Tyr)
c.2791C>T (p.His931Tyr)
c.2788C>T (p.His930Tyr)
c.2797C>T (p.His933Tyr)
c.2647C>T (p.His883Tyr)
c.2983C>T (p.His995Tyr)
19g.13298848G>CCA404342719CACNA1Ac.2785C>G (p.His929Asp)
c.2791C>G (p.His931Asp)
c.2788C>G (p.His930Asp)
c.2797C>G (p.His933Asp)
c.2647C>G (p.His883Asp)
c.2983C>G (p.His995Asp)
19g.13298848G>TCA404342720CACNA1Ac.2785C>A (p.His929Asn)
c.2791C>A (p.His931Asn)
c.2788C>A (p.His930Asn)
c.2797C>A (p.His933Asn)
c.2647C>A (p.His883Asn)
c.2983C>A (p.His995Asn)
 gnomAD v4
19g.13298852delCA2582833356CACNA1Ac.2785del (p.His929ThrfsTer?)
c.2791del (p.His931ThrfsTer?)
c.2788del (p.His930ThrfsTer?)
c.2797del (p.His933ThrfsTer?)
c.2647del (p.His883ThrfsTer?)
c.2983del (p.His995ThrfsTer?)
 gnomAD v4
19g.13298849G>ACA505785039CACNA1Ac.2784C>T (p.Pro928=)
c.2790C>T (p.Pro930=)
c.2787C>T (p.Pro929=)
c.2796C>T (p.Pro932=)
c.2646C>T (p.Pro882=)
c.2982C>T (p.Pro994=)
19g.13298849G>CCA505785040CACNA1Ac.2784C>G (p.Pro928=)
c.2790C>G (p.Pro930=)
c.2787C>G (p.Pro929=)
c.2796C>G (p.Pro932=)
c.2646C>G (p.Pro882=)
c.2982C>G (p.Pro994=)
 ClinVar dbSNP
19g.13298849G>TCA505785041CACNA1Ac.2784C>A (p.Pro928=)
c.2790C>A (p.Pro930=)
c.2787C>A (p.Pro929=)
c.2796C>A (p.Pro932=)
c.2646C>A (p.Pro882=)
c.2982C>A (p.Pro994=)
 gnomAD v4
19g.13298850G>ACA9240481CACNA1Ac.2783C>T (p.Pro928Leu)
c.2789C>T (p.Pro930Leu)
c.2786C>T (p.Pro929Leu)
c.2795C>T (p.Pro932Leu)
c.2645C>T (p.Pro882Leu)
c.2981C>T (p.Pro994Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298850G>CCA404342721CACNA1Ac.2783C>G (p.Pro928Arg)
c.2789C>G (p.Pro930Arg)
c.2786C>G (p.Pro929Arg)
c.2795C>G (p.Pro932Arg)
c.2645C>G (p.Pro882Arg)
c.2981C>G (p.Pro994Arg)
 gnomAD v4
19g.13298850G=CA2323825797CACNA1Ac.2783C= (p.Pro928=)
c.2789C= (p.Pro930=)
c.2786C= (p.Pro929=)
c.2795C= (p.Pro932=)
c.2645C= (p.Pro882=)
c.2981C= (p.Pro994=)
19g.13298850G>TCA404342722CACNA1Ac.2783C>A (p.Pro928His)
c.2789C>A (p.Pro930His)
c.2786C>A (p.Pro929His)
c.2795C>A (p.Pro932His)
c.2645C>A (p.Pro882His)
c.2981C>A (p.Pro994His)
 gnomAD v4
19g.13298851G>ACA404342725CACNA1Ac.2782C>T (p.Pro928Ser)
c.2788C>T (p.Pro930Ser)
c.2785C>T (p.Pro929Ser)
c.2794C>T (p.Pro932Ser)
c.2644C>T (p.Pro882Ser)
c.2980C>T (p.Pro994Ser)
 gnomAD v4
19g.13298851G>CCA404342724CACNA1Ac.2782C>G (p.Pro928Ala)
c.2788C>G (p.Pro930Ala)
c.2785C>G (p.Pro929Ala)
c.2794C>G (p.Pro932Ala)
c.2644C>G (p.Pro882Ala)
c.2980C>G (p.Pro994Ala)
19g.13298851G>TCA404342723CACNA1Ac.2782C>A (p.Pro928Thr)
c.2788C>A (p.Pro930Thr)
c.2785C>A (p.Pro929Thr)
c.2794C>A (p.Pro932Thr)
c.2644C>A (p.Pro882Thr)
c.2980C>A (p.Pro994Thr)
 gnomAD v4
19g.13298852G>ACA505785047CACNA1Ac.2781C>T (p.Asp927=)
c.2787C>T (p.Asp929=)
c.2784C>T (p.Asp928=)
c.2793C>T (p.Asp931=)
c.2643C>T (p.Asp881=)
c.2979C>T (p.Asp993=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.13298852G>CCA404342726CACNA1Ac.2781C>G (p.Asp927Glu)
c.2787C>G (p.Asp929Glu)
c.2784C>G (p.Asp928Glu)
c.2793C>G (p.Asp931Glu)
c.2643C>G (p.Asp881Glu)
c.2979C>G (p.Asp993Glu)
19g.13298852G=CA2323825799CACNA1Ac.2781C= (p.Asp927=)
c.2787C= (p.Asp929=)
c.2784C= (p.Asp928=)
c.2793C= (p.Asp931=)
c.2643C= (p.Asp881=)
c.2979C= (p.Asp993=)
19g.13298852G>TCA404342727CACNA1Ac.2781C>A (p.Asp927Glu)
c.2787C>A (p.Asp929Glu)
c.2784C>A (p.Asp928Glu)
c.2793C>A (p.Asp931Glu)
c.2643C>A (p.Asp881Glu)
c.2979C>A (p.Asp993Glu)
19g.13298853T>ACA404342728CACNA1Ac.2780A>T (p.Asp927Val)
c.2786A>T (p.Asp929Val)
c.2783A>T (p.Asp928Val)
c.2792A>T (p.Asp931Val)
c.2642A>T (p.Asp881Val)
c.2978A>T (p.Asp993Val)
19g.13298853T>CCA404342729CACNA1Ac.2780A>G (p.Asp927Gly)
c.2786A>G (p.Asp929Gly)
c.2783A>G (p.Asp928Gly)
c.2792A>G (p.Asp931Gly)
c.2642A>G (p.Asp881Gly)
c.2978A>G (p.Asp993Gly)
 gnomAD v4
19g.13298853T>GCA404342730CACNA1Ac.2780A>C (p.Asp927Ala)
c.2786A>C (p.Asp929Ala)
c.2783A>C (p.Asp928Ala)
c.2792A>C (p.Asp931Ala)
c.2642A>C (p.Asp881Ala)
c.2978A>C (p.Asp993Ala)
19g.13298854C>ACA404342731CACNA1Ac.2779G>T (p.Asp927Tyr)
c.2785G>T (p.Asp929Tyr)
c.2782G>T (p.Asp928Tyr)
c.2791G>T (p.Asp931Tyr)
c.2641G>T (p.Asp881Tyr)
c.2977G>T (p.Asp993Tyr)
19g.13298854C=CA2323825801CACNA1Ac.2779G= (p.Asp927=)
c.2785G= (p.Asp929=)
c.2782G= (p.Asp928=)
c.2791G= (p.Asp931=)
c.2641G= (p.Asp881=)
c.2977G= (p.Asp993=)
19g.13298854C>GCA404342732CACNA1Ac.2779G>C (p.Asp927His)
c.2785G>C (p.Asp929His)
c.2782G>C (p.Asp928His)
c.2791G>C (p.Asp931His)
c.2641G>C (p.Asp881His)
c.2977G>C (p.Asp993His)
 gnomAD v4
19g.13298854C>TCA404342733CACNA1Ac.2779G>A (p.Asp927Asn)
c.2785G>A (p.Asp929Asn)
c.2782G>A (p.Asp928Asn)
c.2791G>A (p.Asp931Asn)
c.2641G>A (p.Asp881Asn)
c.2977G>A (p.Asp993Asn)
 dbSNP gnomAD v2 gnomAD v4
19g.13298857delCA2582833357CACNA1Ac.2779del (p.Asp927ThrfsTer?)
c.2785del (p.Asp929ThrfsTer?)
c.2782del (p.Asp928ThrfsTer?)
c.2791del (p.Asp931ThrfsTer?)
c.2641del (p.Asp881ThrfsTer?)
c.2977del (p.Asp993ThrfsTer?)
 ClinVar gnomAD v4
19g.13298855C>ACA505785054CACNA1Ac.2778G>T (p.Gly926=)
c.2784G>T (p.Gly928=)
c.2781G>T (p.Gly927=)
c.2790G>T (p.Gly930=)
c.2640G>T (p.Gly880=)
c.2976G>T (p.Gly992=)
 gnomAD v4
19g.13298855C=CA2323825803CACNA1Ac.2778G= (p.Gly926=)
c.2784G= (p.Gly928=)
c.2781G= (p.Gly927=)
c.2790G= (p.Gly930=)
c.2640G= (p.Gly880=)
c.2976G= (p.Gly992=)
19g.13298855C>GCA505785055CACNA1Ac.2778G>C (p.Gly926=)
c.2784G>C (p.Gly928=)
c.2781G>C (p.Gly927=)
c.2790G>C (p.Gly930=)
c.2640G>C (p.Gly880=)
c.2976G>C (p.Gly992=)
19g.13298855C>TCA305506354CACNA1Ac.2778G>A (p.Gly926=)
c.2784G>A (p.Gly928=)
c.2781G>A (p.Gly927=)
c.2790G>A (p.Gly930=)
c.2640G>A (p.Gly880=)
c.2976G>A (p.Gly992=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.13298856C>ACA404342734CACNA1Ac.2777G>T (p.Gly926Val)
c.2783G>T (p.Gly928Val)
c.2780G>T (p.Gly927Val)
c.2789G>T (p.Gly930Val)
c.2639G>T (p.Gly880Val)
c.2975G>T (p.Gly992Val)
 gnomAD v4
19g.13298856C>GCA404342735CACNA1Ac.2777G>C (p.Gly926Ala)
c.2783G>C (p.Gly928Ala)
c.2780G>C (p.Gly927Ala)
c.2789G>C (p.Gly930Ala)
c.2639G>C (p.Gly880Ala)
c.2975G>C (p.Gly992Ala)
19g.13298856C>TCA404342736CACNA1Ac.2777G>A (p.Gly926Glu)
c.2783G>A (p.Gly928Glu)
c.2780G>A (p.Gly927Glu)
c.2789G>A (p.Gly930Glu)
c.2639G>A (p.Gly880Glu)
c.2975G>A (p.Gly992Glu)
 gnomAD v4 COSMIC COSMIC COSMIC
19g.13298857C>ACA404342737CACNA1Ac.2776G>T (p.Gly926Trp)
c.2782G>T (p.Gly928Trp)
c.2779G>T (p.Gly927Trp)
c.2788G>T (p.Gly930Trp)
c.2638G>T (p.Gly880Trp)
c.2974G>T (p.Gly992Trp)
 gnomAD v4
19g.13298857C=CA2323825805CACNA1Ac.2776G= (p.Gly926=)
c.2782G= (p.Gly928=)
c.2779G= (p.Gly927=)
c.2788G= (p.Gly930=)
c.2638G= (p.Gly880=)
c.2974G= (p.Gly992=)
19g.13298857C>GCA404342738CACNA1Ac.2776G>C (p.Gly926Arg)
c.2782G>C (p.Gly928Arg)
c.2779G>C (p.Gly927Arg)
c.2788G>C (p.Gly930Arg)
c.2638G>C (p.Gly880Arg)
c.2974G>C (p.Gly992Arg)
 gnomAD v4
19g.13298857C>TCA404342739CACNA1Ac.2776G>A (p.Gly926Arg)
c.2782G>A (p.Gly928Arg)
c.2779G>A (p.Gly927Arg)
c.2788G>A (p.Gly930Arg)
c.2638G>A (p.Gly880Arg)
c.2974G>A (p.Gly992Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.13298858G>ACA505785062CACNA1Ac.2775C>T (p.Ala925=)
c.2781C>T (p.Ala927=)
c.2778C>T (p.Ala926=)
c.2787C>T (p.Ala929=)
c.2637C>T (p.Ala879=)
c.2973C>T (p.Ala991=)
 gnomAD v4
19g.13298858G>CCA505785065CACNA1Ac.2775C>G (p.Ala925=)
c.2781C>G (p.Ala927=)
c.2778C>G (p.Ala926=)
c.2787C>G (p.Ala929=)
c.2637C>G (p.Ala879=)
c.2973C>G (p.Ala991=)
19g.13298858G>TCA505785063CACNA1Ac.2775C>A (p.Ala925=)
c.2781C>A (p.Ala927=)
c.2778C>A (p.Ala926=)
c.2787C>A (p.Ala929=)
c.2637C>A (p.Ala879=)
c.2973C>A (p.Ala991=)
 gnomAD v4
19g.13298859G>ACA9240482CACNA1Ac.2774C>T (p.Ala925Val)
c.2780C>T (p.Ala927Val)
c.2777C>T (p.Ala926Val)
c.2786C>T (p.Ala929Val)
c.2636C>T (p.Ala879Val)
c.2972C>T (p.Ala991Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298859G>CCA404342741CACNA1Ac.2774C>G (p.Ala925Gly)
c.2780C>G (p.Ala927Gly)
c.2777C>G (p.Ala926Gly)
c.2786C>G (p.Ala929Gly)
c.2636C>G (p.Ala879Gly)
c.2972C>G (p.Ala991Gly)
19g.13298859G=CA2323825806CACNA1Ac.2774C= (p.Ala925=)
c.2780C= (p.Ala927=)
c.2777C= (p.Ala926=)
c.2786C= (p.Ala929=)
c.2636C= (p.Ala879=)
c.2972C= (p.Ala991=)
19g.13298859G>TCA404342740CACNA1Ac.2774C>A (p.Ala925Asp)
c.2780C>A (p.Ala927Asp)
c.2777C>A (p.Ala926Asp)
c.2786C>A (p.Ala929Asp)
c.2636C>A (p.Ala879Asp)
c.2972C>A (p.Ala991Asp)
 gnomAD v4
19g.13298860C>ACA404342742CACNA1Ac.2773G>T (p.Ala925Ser)
c.2779G>T (p.Ala927Ser)
c.2776G>T (p.Ala926Ser)
c.2785G>T (p.Ala929Ser)
c.2635G>T (p.Ala879Ser)
c.2971G>T (p.Ala991Ser)
 gnomAD v4
19g.13298860C>GCA404342743CACNA1Ac.2773G>C (p.Ala925Pro)
c.2779G>C (p.Ala927Pro)
c.2776G>C (p.Ala926Pro)
c.2785G>C (p.Ala929Pro)
c.2635G>C (p.Ala879Pro)
c.2971G>C (p.Ala991Pro)
19g.13298860C>TCA404342744CACNA1Ac.2773G>A (p.Ala925Thr)
c.2779G>A (p.Ala927Thr)
c.2776G>A (p.Ala926Thr)
c.2785G>A (p.Ala929Thr)
c.2635G>A (p.Ala879Thr)
c.2971G>A (p.Ala991Thr)
 ClinVar dbSNP
19g.13298861C>ACA404342745CACNA1Ac.2772G>T (p.Lys924Asn)
c.2778G>T (p.Lys926Asn)
c.2775G>T (p.Lys925Asn)
c.2784G>T (p.Lys928Asn)
c.2634G>T (p.Lys878Asn)
c.2970G>T (p.Lys990Asn)
 gnomAD v4
19g.13298861C>GCA404342746CACNA1Ac.2772G>C (p.Lys924Asn)
c.2778G>C (p.Lys926Asn)
c.2775G>C (p.Lys925Asn)
c.2784G>C (p.Lys928Asn)
c.2634G>C (p.Lys878Asn)
c.2970G>C (p.Lys990Asn)
 gnomAD v4
19g.13298861C>TCA505785074CACNA1Ac.2772G>A (p.Lys924=)
c.2778G>A (p.Lys926=)
c.2775G>A (p.Lys925=)
c.2784G>A (p.Lys928=)
c.2634G>A (p.Lys878=)
c.2970G>A (p.Lys990=)
 dbSNP
19g.13298862T>ACA404342749CACNA1Ac.2771A>T (p.Lys924Met)
c.2777A>T (p.Lys926Met)
c.2774A>T (p.Lys925Met)
c.2783A>T (p.Lys928Met)
c.2633A>T (p.Lys878Met)
c.2969A>T (p.Lys990Met)
19g.13298862T>CCA404342748CACNA1Ac.2771A>G (p.Lys924Arg)
c.2777A>G (p.Lys926Arg)
c.2774A>G (p.Lys925Arg)
c.2783A>G (p.Lys928Arg)
c.2633A>G (p.Lys878Arg)
c.2969A>G (p.Lys990Arg)
19g.13298862T>GCA404342747CACNA1Ac.2771A>C (p.Lys924Thr)
c.2777A>C (p.Lys926Thr)
c.2774A>C (p.Lys925Thr)
c.2783A>C (p.Lys928Thr)
c.2633A>C (p.Lys878Thr)
c.2969A>C (p.Lys990Thr)
19g.13298863T>ACA404342750CACNA1Ac.2770A>T (p.Lys924Ter)
c.2776A>T (p.Lys926Ter)
c.2773A>T (p.Lys925Ter)
c.2782A>T (p.Lys928Ter)
c.2632A>T (p.Lys878Ter)
c.2968A>T (p.Lys990Ter)
19g.13298863T>CCA404342751CACNA1Ac.2770A>G (p.Lys924Glu)
c.2776A>G (p.Lys926Glu)
c.2773A>G (p.Lys925Glu)
c.2782A>G (p.Lys928Glu)
c.2632A>G (p.Lys878Glu)
c.2968A>G (p.Lys990Glu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298863T>GCA404342752CACNA1Ac.2770A>C (p.Lys924Gln)
c.2776A>C (p.Lys926Gln)
c.2773A>C (p.Lys925Gln)
c.2782A>C (p.Lys928Gln)
c.2632A>C (p.Lys878Gln)
c.2968A>C (p.Lys990Gln)
19g.13298863T=CA2323825809CACNA1Ac.2770A= (p.Lys924=)
c.2776A= (p.Lys926=)
c.2773A= (p.Lys925=)
c.2782A= (p.Lys928=)
c.2632A= (p.Lys878=)
c.2968A= (p.Lys990=)
19g.13298864G>ACA505785078CACNA1Ac.2769C>T (p.Gly923=)
c.2775C>T (p.Gly925=)
c.2772C>T (p.Gly924=)
c.2781C>T (p.Gly927=)
c.2631C>T (p.Gly877=)
c.2967C>T (p.Gly989=)
 gnomAD v4
19g.13298864G>CCA505785079CACNA1Ac.2769C>G (p.Gly923=)
c.2775C>G (p.Gly925=)
c.2772C>G (p.Gly924=)
c.2781C>G (p.Gly927=)
c.2631C>G (p.Gly877=)
c.2967C>G (p.Gly989=)
 dbSNP gnomAD v2 gnomAD v4
19g.13298864G=CA2323825812CACNA1Ac.2769C= (p.Gly923=)
c.2775C= (p.Gly925=)
c.2772C= (p.Gly924=)
c.2781C= (p.Gly927=)
c.2631C= (p.Gly877=)
c.2967C= (p.Gly989=)
19g.13298864G>TCA505785080CACNA1Ac.2769C>A (p.Gly923=)
c.2775C>A (p.Gly925=)
c.2772C>A (p.Gly924=)
c.2781C>A (p.Gly927=)
c.2631C>A (p.Gly877=)
c.2967C>A (p.Gly989=)
 gnomAD v4
19g.13298867_13298881dupCA916082450CACNA1Ac.2755_2769dup (p.Gly923_Lys924insGluAlaGluArgGly)
c.2761_2775dup (p.Gly925_Lys926insGluAlaGluArgGly)
c.2758_2772dup (p.Gly924_Lys925insGluAlaGluArgGly)
c.2767_2781dup (p.Gly927_Lys928insGluAlaGluArgGly)
c.2617_2631dup (p.Gly877_Lys878insGluAlaGluArgGly)
c.2953_2967dup (p.Gly989_Lys990insGluAlaGluArgGly)
 ClinVar dbSNP gnomAD v4
19g.13298865C>ACA404342753CACNA1Ac.2768G>T (p.Gly923Val)
c.2774G>T (p.Gly925Val)
c.2771G>T (p.Gly924Val)
c.2780G>T (p.Gly927Val)
c.2630G>T (p.Gly877Val)
c.2966G>T (p.Gly989Val)
 gnomAD v4
19g.13298865C=CA2323825814CACNA1Ac.2768G= (p.Gly923=)
c.2774G= (p.Gly925=)
c.2771G= (p.Gly924=)
c.2780G= (p.Gly927=)
c.2630G= (p.Gly877=)
c.2966G= (p.Gly989=)
19g.13298865C>GCA404342754CACNA1Ac.2768G>C (p.Gly923Ala)
c.2774G>C (p.Gly925Ala)
c.2771G>C (p.Gly924Ala)
c.2780G>C (p.Gly927Ala)
c.2630G>C (p.Gly877Ala)
c.2966G>C (p.Gly989Ala)
 dbSNP gnomAD v4
19g.13298865C>TCA404342755CACNA1Ac.2768G>A (p.Gly923Asp)
c.2774G>A (p.Gly925Asp)
c.2771G>A (p.Gly924Asp)
c.2780G>A (p.Gly927Asp)
c.2630G>A (p.Gly877Asp)
c.2966G>A (p.Gly989Asp)
 gnomAD v4
19g.13298866C>ACA404342756CACNA1Ac.2767G>T (p.Gly923Cys)
c.2773G>T (p.Gly925Cys)
c.2770G>T (p.Gly924Cys)
c.2779G>T (p.Gly927Cys)
c.2629G>T (p.Gly877Cys)
c.2965G>T (p.Gly989Cys)
 gnomAD v4
19g.13298866C=CA2323825816CACNA1Ac.2767G= (p.Gly923=)
c.2773G= (p.Gly925=)
c.2770G= (p.Gly924=)
c.2779G= (p.Gly927=)
c.2629G= (p.Gly877=)
c.2965G= (p.Gly989=)
19g.13298866C>GCA404342758CACNA1Ac.2767G>C (p.Gly923Arg)
c.2773G>C (p.Gly925Arg)
c.2770G>C (p.Gly924Arg)
c.2779G>C (p.Gly927Arg)
c.2629G>C (p.Gly877Arg)
c.2965G>C (p.Gly989Arg)
19g.13298866C>TCA404342757CACNA1Ac.2767G>A (p.Gly923Ser)
c.2773G>A (p.Gly925Ser)
c.2770G>A (p.Gly924Ser)
c.2779G>A (p.Gly927Ser)
c.2629G>A (p.Gly877Ser)
c.2965G>A (p.Gly989Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.13298867T>ACA505785235CACNA1Ac.2766A>T (p.Arg922=)
c.2772A>T (p.Arg924=)
c.2769A>T (p.Arg923=)
c.2778A>T (p.Arg926=)
c.2628A>T (p.Arg876=)
c.2964A>T (p.Arg988=)
19g.13298867T>CCA505785233CACNA1Ac.2766A>G (p.Arg922=)
c.2772A>G (p.Arg924=)
c.2769A>G (p.Arg923=)
c.2778A>G (p.Arg926=)
c.2628A>G (p.Arg876=)
c.2964A>G (p.Arg988=)
 gnomAD v4
19g.13298867T>GCA505785234CACNA1Ac.2766A>C (p.Arg922=)
c.2772A>C (p.Arg924=)
c.2769A>C (p.Arg923=)
c.2778A>C (p.Arg926=)
c.2628A>C (p.Arg876=)
c.2964A>C (p.Arg988=)
19g.13298868C>ACA16620791CACNA1Ac.2765G>T (p.Arg922Leu)
c.2771G>T (p.Arg924Leu)
c.2768G>T (p.Arg923Leu)
c.2777G>T (p.Arg926Leu)
c.2627G>T (p.Arg876Leu)
c.2963G>T (p.Arg988Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298868C=CA2323825818CACNA1Ac.2765G= (p.Arg922=)
c.2771G= (p.Arg924=)
c.2768G= (p.Arg923=)
c.2777G= (p.Arg926=)
c.2627G= (p.Arg876=)
c.2963G= (p.Arg988=)
19g.13298868C>GCA404342759CACNA1Ac.2765G>C (p.Arg922Pro)
c.2771G>C (p.Arg924Pro)
c.2768G>C (p.Arg923Pro)
c.2777G>C (p.Arg926Pro)
c.2627G>C (p.Arg876Pro)
c.2963G>C (p.Arg988Pro)
 dbSNP gnomAD v4
19g.13298868C>TCA9240483CACNA1Ac.2765G>A (p.Arg922Gln)
c.2771G>A (p.Arg924Gln)
c.2768G>A (p.Arg923Gln)
c.2777G>A (p.Arg926Gln)
c.2627G>A (p.Arg876Gln)
c.2963G>A (p.Arg988Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298869G>ACA404342760CACNA1Ac.2764C>T (p.Arg922Ter)
c.2770C>T (p.Arg924Ter)
c.2767C>T (p.Arg923Ter)
c.2776C>T (p.Arg926Ter)
c.2626C>T (p.Arg876Ter)
c.2962C>T (p.Arg988Ter)
 ClinVar dbSNP gnomAD v4
19g.13298869G>CCA404342761CACNA1Ac.2764C>G (p.Arg922Gly)
c.2770C>G (p.Arg924Gly)
c.2767C>G (p.Arg923Gly)
c.2776C>G (p.Arg926Gly)
c.2626C>G (p.Arg876Gly)
c.2962C>G (p.Arg988Gly)
19g.13298869G>TCA505785237CACNA1Ac.2764C>A (p.Arg922=)
c.2770C>A (p.Arg924=)
c.2767C>A (p.Arg923=)
c.2776C>A (p.Arg926=)
c.2626C>A (p.Arg876=)
c.2962C>A (p.Arg988=)
 gnomAD v4
19g.13298870C>ACA404342762CACNA1Ac.2763G>T (p.Glu921Asp)
c.2769G>T (p.Glu923Asp)
c.2766G>T (p.Glu922Asp)
c.2775G>T (p.Glu925Asp)
c.2625G>T (p.Glu875Asp)
c.2961G>T (p.Glu987Asp)
 gnomAD v4
19g.13298870C>GCA404342763CACNA1Ac.2763G>C (p.Glu921Asp)
c.2769G>C (p.Glu923Asp)
c.2766G>C (p.Glu922Asp)
c.2775G>C (p.Glu925Asp)
c.2625G>C (p.Glu875Asp)
c.2961G>C (p.Glu987Asp)
19g.13298870C>TCA505785239CACNA1Ac.2763G>A (p.Glu921=)
c.2769G>A (p.Glu923=)
c.2766G>A (p.Glu922=)
c.2775G>A (p.Glu925=)
c.2625G>A (p.Glu875=)
c.2961G>A (p.Glu987=)
19g.13298871T>ACA404342764CACNA1Ac.2762A>T (p.Glu921Val)
c.2768A>T (p.Glu923Val)
c.2765A>T (p.Glu922Val)
c.2774A>T (p.Glu925Val)
c.2624A>T (p.Glu875Val)
c.2960A>T (p.Glu987Val)
19g.13298871T>CCA404342765CACNA1Ac.2762A>G (p.Glu921Gly)
c.2768A>G (p.Glu923Gly)
c.2765A>G (p.Glu922Gly)
c.2774A>G (p.Glu925Gly)
c.2624A>G (p.Glu875Gly)
c.2960A>G (p.Glu987Gly)
19g.13298871T>GCA404342766CACNA1Ac.2762A>C (p.Glu921Ala)
c.2768A>C (p.Glu923Ala)
c.2765A>C (p.Glu922Ala)
c.2774A>C (p.Glu925Ala)
c.2624A>C (p.Glu875Ala)
c.2960A>C (p.Glu987Ala)
19g.13298872C>ACA404342769CACNA1Ac.2761G>T (p.Glu921Ter)
c.2767G>T (p.Glu923Ter)
c.2764G>T (p.Glu922Ter)
c.2773G>T (p.Glu925Ter)
c.2623G>T (p.Glu875Ter)
c.2959G>T (p.Glu987Ter)
 gnomAD v4
19g.13298872C=CA2323825821CACNA1Ac.2761G= (p.Glu921=)
c.2767G= (p.Glu923=)
c.2764G= (p.Glu922=)
c.2773G= (p.Glu925=)
c.2623G= (p.Glu875=)
c.2959G= (p.Glu987=)
19g.13298872C>GCA404342768CACNA1Ac.2761G>C (p.Glu921Gln)
c.2767G>C (p.Glu923Gln)
c.2764G>C (p.Glu922Gln)
c.2773G>C (p.Glu925Gln)
c.2623G>C (p.Glu875Gln)
c.2959G>C (p.Glu987Gln)
19g.13298872C>TCA404342767CACNA1Ac.2761G>A (p.Glu921Lys)
c.2767G>A (p.Glu923Lys)
c.2764G>A (p.Glu922Lys)
c.2773G>A (p.Glu925Lys)
c.2623G>A (p.Glu875Lys)
c.2959G>A (p.Glu987Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298873G>ACA505785244CACNA1Ac.2760C>T (p.Ala920=)
c.2766C>T (p.Ala922=)
c.2763C>T (p.Ala921=)
c.2772C>T (p.Ala924=)
c.2622C>T (p.Ala874=)
c.2958C>T (p.Ala986=)
 gnomAD v4
19g.13298873G>CCA505785245CACNA1Ac.2760C>G (p.Ala920=)
c.2766C>G (p.Ala922=)
c.2763C>G (p.Ala921=)
c.2772C>G (p.Ala924=)
c.2622C>G (p.Ala874=)
c.2958C>G (p.Ala986=)
 gnomAD v4
19g.13298873G>TCA505785246CACNA1Ac.2760C>A (p.Ala920=)
c.2766C>A (p.Ala922=)
c.2763C>A (p.Ala921=)
c.2772C>A (p.Ala924=)
c.2622C>A (p.Ala874=)
c.2958C>A (p.Ala986=)
 gnomAD v4
19g.13298874G>ACA9240485CACNA1Ac.2759C>T (p.Ala920Val)
c.2765C>T (p.Ala922Val)
c.2762C>T (p.Ala921Val)
c.2771C>T (p.Ala924Val)
c.2621C>T (p.Ala874Val)
c.2957C>T (p.Ala986Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298874G>CCA9240484CACNA1Ac.2759C>G (p.Ala920Gly)
c.2765C>G (p.Ala922Gly)
c.2762C>G (p.Ala921Gly)
c.2771C>G (p.Ala924Gly)
c.2621C>G (p.Ala874Gly)
c.2957C>G (p.Ala986Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298874G=CA2323825823CACNA1Ac.2759C= (p.Ala920=)
c.2765C= (p.Ala922=)
c.2762C= (p.Ala921=)
c.2771C= (p.Ala924=)
c.2621C= (p.Ala874=)
c.2957C= (p.Ala986=)
19g.13298874G>TCA404342770CACNA1Ac.2759C>A (p.Ala920Asp)
c.2765C>A (p.Ala922Asp)
c.2762C>A (p.Ala921Asp)
c.2771C>A (p.Ala924Asp)
c.2621C>A (p.Ala874Asp)
c.2957C>A (p.Ala986Asp)
 gnomAD v4
19g.13298875C>ACA404342771CACNA1Ac.2758G>T (p.Ala920Ser)
c.2764G>T (p.Ala922Ser)
c.2761G>T (p.Ala921Ser)
c.2770G>T (p.Ala924Ser)
c.2620G>T (p.Ala874Ser)
c.2956G>T (p.Ala986Ser)
 gnomAD v4
19g.13298875C>GCA404342773CACNA1Ac.2758G>C (p.Ala920Pro)
c.2764G>C (p.Ala922Pro)
c.2761G>C (p.Ala921Pro)
c.2770G>C (p.Ala924Pro)
c.2620G>C (p.Ala874Pro)
c.2956G>C (p.Ala986Pro)
19g.13298875C>TCA404342772CACNA1Ac.2758G>A (p.Ala920Thr)
c.2764G>A (p.Ala922Thr)
c.2761G>A (p.Ala921Thr)
c.2770G>A (p.Ala924Thr)
c.2620G>A (p.Ala874Thr)
c.2956G>A (p.Ala986Thr)
 gnomAD v4
19g.13298879_13298884dupCA2323825826CACNA1Ac.2753_2758dup (p.Glu919_Ala920insGlyGlu)
c.2759_2764dup (p.Glu921_Ala922insGlyGlu)
c.2756_2761dup (p.Glu920_Ala921insGlyGlu)
c.2765_2770dup (p.Glu923_Ala924insGlyGlu)
c.2615_2620dup (p.Glu873_Ala874insGlyGlu)
c.2951_2956dup (p.Glu985_Ala986insGlyGlu)
 dbSNP
19g.13298876C>ACA404342774CACNA1Ac.2757G>T (p.Glu919Asp)
c.2763G>T (p.Glu921Asp)
c.2760G>T (p.Glu920Asp)
c.2769G>T (p.Glu923Asp)
c.2619G>T (p.Glu873Asp)
c.2955G>T (p.Glu985Asp)
19g.13298876C=CA2323825828CACNA1Ac.2757G= (p.Glu919=)
c.2763G= (p.Glu921=)
c.2760G= (p.Glu920=)
c.2769G= (p.Glu923=)
c.2619G= (p.Glu873=)
c.2955G= (p.Glu985=)
19g.13298876C>GCA9240487CACNA1Ac.2757G>C (p.Glu919Asp)
c.2763G>C (p.Glu921Asp)
c.2760G>C (p.Glu920Asp)
c.2769G>C (p.Glu923Asp)
c.2619G>C (p.Glu873Asp)
c.2955G>C (p.Glu985Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298876C>TCA9240486CACNA1Ac.2757G>A (p.Glu919=)
c.2763G>A (p.Glu921=)
c.2760G>A (p.Glu920=)
c.2769G>A (p.Glu923=)
c.2619G>A (p.Glu873=)
c.2955G>A (p.Glu985=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298877T>ACA404342775CACNA1Ac.2756A>T (p.Glu919Val)
c.2762A>T (p.Glu921Val)
c.2759A>T (p.Glu920Val)
c.2768A>T (p.Glu923Val)
c.2618A>T (p.Glu873Val)
c.2954A>T (p.Glu985Val)
19g.13298877T>CCA404342776CACNA1Ac.2756A>G (p.Glu919Gly)
c.2762A>G (p.Glu921Gly)
c.2759A>G (p.Glu920Gly)
c.2768A>G (p.Glu923Gly)
c.2618A>G (p.Glu873Gly)
c.2954A>G (p.Glu985Gly)
 gnomAD v4
19g.13298877T>GCA404342777CACNA1Ac.2756A>C (p.Glu919Ala)
c.2762A>C (p.Glu921Ala)
c.2759A>C (p.Glu920Ala)
c.2768A>C (p.Glu923Ala)
c.2618A>C (p.Glu873Ala)
c.2954A>C (p.Glu985Ala)
19g.13298878C>ACA404342778CACNA1Ac.2755G>T (p.Glu919Ter)
c.2761G>T (p.Glu921Ter)
c.2758G>T (p.Glu920Ter)
c.2767G>T (p.Glu923Ter)
c.2617G>T (p.Glu873Ter)
c.2953G>T (p.Glu985Ter)
 ClinVar dbSNP gnomAD v4
19g.13298878C=CA2323825830CACNA1Ac.2755G= (p.Glu919=)
c.2761G= (p.Glu921=)
c.2758G= (p.Glu920=)
c.2767G= (p.Glu923=)
c.2617G= (p.Glu873=)
c.2953G= (p.Glu985=)
19g.13298878C>GCA404342779CACNA1Ac.2755G>C (p.Glu919Gln)
c.2761G>C (p.Glu921Gln)
c.2758G>C (p.Glu920Gln)
c.2767G>C (p.Glu923Gln)
c.2617G>C (p.Glu873Gln)
c.2953G>C (p.Glu985Gln)
19g.13298878C>TCA404342780CACNA1Ac.2755G>A (p.Glu919Lys)
c.2761G>A (p.Glu921Lys)
c.2758G>A (p.Glu920Lys)
c.2767G>A (p.Glu923Lys)
c.2617G>A (p.Glu873Lys)
c.2953G>A (p.Glu985Lys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298879G>ACA9240488CACNA1Ac.2754C>T (p.Gly918=)
c.2760C>T (p.Gly920=)
c.2757C>T (p.Gly919=)
c.2766C>T (p.Gly922=)
c.2616C>T (p.Gly872=)
c.2952C>T (p.Gly984=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298879G>CCA505785269CACNA1Ac.2754C>G (p.Gly918=)
c.2760C>G (p.Gly920=)
c.2757C>G (p.Gly919=)
c.2766C>G (p.Gly922=)
c.2616C>G (p.Gly872=)
c.2952C>G (p.Gly984=)
19g.13298879G=CA2323825833CACNA1Ac.2754C= (p.Gly918=)
c.2760C= (p.Gly920=)
c.2757C= (p.Gly919=)
c.2766C= (p.Gly922=)
c.2616C= (p.Gly872=)
c.2952C= (p.Gly984=)
19g.13298879G>TCA505785270CACNA1Ac.2754C>A (p.Gly918=)
c.2760C>A (p.Gly920=)
c.2757C>A (p.Gly919=)
c.2766C>A (p.Gly922=)
c.2616C>A (p.Gly872=)
c.2952C>A (p.Gly984=)
19g.13298880C>ACA404342781CACNA1Ac.2753G>T (p.Gly918Val)
c.2759G>T (p.Gly920Val)
c.2756G>T (p.Gly919Val)
c.2765G>T (p.Gly922Val)
c.2615G>T (p.Gly872Val)
c.2951G>T (p.Gly984Val)
 dbSNP gnomAD v4
19g.13298880C=CA2323825836CACNA1Ac.2753G= (p.Gly918=)
c.2759G= (p.Gly920=)
c.2756G= (p.Gly919=)
c.2765G= (p.Gly922=)
c.2615G= (p.Gly872=)
c.2951G= (p.Gly984=)
19g.13298880C>GCA404342782CACNA1Ac.2753G>C (p.Gly918Ala)
c.2759G>C (p.Gly920Ala)
c.2756G>C (p.Gly919Ala)
c.2765G>C (p.Gly922Ala)
c.2615G>C (p.Gly872Ala)
c.2951G>C (p.Gly984Ala)
19g.13298880C>TCA404342783CACNA1Ac.2753G>A (p.Gly918Asp)
c.2759G>A (p.Gly920Asp)
c.2756G>A (p.Gly919Asp)
c.2765G>A (p.Gly922Asp)
c.2615G>A (p.Gly872Asp)
c.2951G>A (p.Gly984Asp)
 gnomAD v4
19g.13298882delCA2582833360CACNA1Ac.2753del (p.Gly918AlafsTer?)
c.2759del (p.Gly920AlafsTer?)
c.2756del (p.Gly919AlafsTer?)
c.2765del (p.Gly922AlafsTer?)
c.2615del (p.Gly872AlafsTer?)
c.2951del (p.Gly984AlafsTer?)
 gnomAD v4
19g.13298881C>ACA404342786CACNA1Ac.2752G>T (p.Gly918Cys)
c.2758G>T (p.Gly920Cys)
c.2755G>T (p.Gly919Cys)
c.2764G>T (p.Gly922Cys)
c.2614G>T (p.Gly872Cys)
c.2950G>T (p.Gly984Cys)
 ClinVar dbSNP
19g.13298881C>GCA404342784CACNA1Ac.2752G>C (p.Gly918Arg)
c.2758G>C (p.Gly920Arg)
c.2755G>C (p.Gly919Arg)
c.2764G>C (p.Gly922Arg)
c.2614G>C (p.Gly872Arg)
c.2950G>C (p.Gly984Arg)
19g.13298881C>TCA404342785CACNA1Ac.2752G>A (p.Gly918Ser)
c.2758G>A (p.Gly920Ser)
c.2755G>A (p.Gly919Ser)
c.2764G>A (p.Gly922Ser)
c.2614G>A (p.Gly872Ser)
c.2950G>A (p.Gly984Ser)
 gnomAD v4
19g.13298882C>ACA404342787CACNA1Ac.2751G>T (p.Glu917Asp)
c.2757G>T (p.Glu919Asp)
c.2754G>T (p.Glu918Asp)
c.2763G>T (p.Glu921Asp)
c.2613G>T (p.Glu871Asp)
c.2949G>T (p.Glu983Asp)
 gnomAD v4
19g.13298882C=CA2323825837CACNA1Ac.2751G= (p.Glu917=)
c.2757G= (p.Glu919=)
c.2754G= (p.Glu918=)
c.2763G= (p.Glu921=)
c.2613G= (p.Glu871=)
c.2949G= (p.Glu983=)
19g.13298882C>GCA152091CACNA1Ac.2751G>C (p.Glu917Asp)
c.2757G>C (p.Glu919Asp)
c.2754G>C (p.Glu918Asp)
c.2763G>C (p.Glu921Asp)
c.2613G>C (p.Glu871Asp)
c.2949G>C (p.Glu983Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298882C>TCA9240489CACNA1Ac.2751G>A (p.Glu917=)
c.2757G>A (p.Glu919=)
c.2754G>A (p.Glu918=)
c.2763G>A (p.Glu921=)
c.2613G>A (p.Glu871=)
c.2949G>A (p.Glu983=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298883T>ACA404342788CACNA1Ac.2750A>T (p.Glu917Val)
c.2756A>T (p.Glu919Val)
c.2753A>T (p.Glu918Val)
c.2762A>T (p.Glu921Val)
c.2612A>T (p.Glu871Val)
c.2948A>T (p.Glu983Val)
 gnomAD v4
19g.13298883T>CCA404342789CACNA1Ac.2750A>G (p.Glu917Gly)
c.2756A>G (p.Glu919Gly)
c.2753A>G (p.Glu918Gly)
c.2762A>G (p.Glu921Gly)
c.2612A>G (p.Glu871Gly)
c.2948A>G (p.Glu983Gly)
 gnomAD v4
19g.13298883T>GCA404342790CACNA1Ac.2750A>C (p.Glu917Ala)
c.2756A>C (p.Glu919Ala)
c.2753A>C (p.Glu918Ala)
c.2762A>C (p.Glu921Ala)
c.2612A>C (p.Glu871Ala)
c.2948A>C (p.Glu983Ala)
19g.13298884C>ACA404342791CACNA1Ac.2749G>T (p.Glu917Ter)
c.2755G>T (p.Glu919Ter)
c.2752G>T (p.Glu918Ter)
c.2761G>T (p.Glu921Ter)
c.2611G>T (p.Glu871Ter)
c.2947G>T (p.Glu983Ter)
19g.13298884C=CA2323825840CACNA1Ac.2749G= (p.Glu917=)
c.2755G= (p.Glu919=)
c.2752G= (p.Glu918=)
c.2761G= (p.Glu921=)
c.2611G= (p.Glu871=)
c.2947G= (p.Glu983=)
19g.13298884C>GCA404342792CACNA1Ac.2749G>C (p.Glu917Gln)
c.2755G>C (p.Glu919Gln)
c.2752G>C (p.Glu918Gln)
c.2761G>C (p.Glu921Gln)
c.2611G>C (p.Glu871Gln)
c.2947G>C (p.Glu983Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298884C>TCA305506396CACNA1Ac.2749G>A (p.Glu917Lys)
c.2755G>A (p.Glu919Lys)
c.2752G>A (p.Glu918Lys)
c.2761G>A (p.Glu921Lys)
c.2611G>A (p.Glu871Lys)
c.2947G>A (p.Glu983Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298885C>ACA404342793CACNA1Ac.2748G>T (p.Trp916Cys)
c.2754G>T (p.Trp918Cys)
c.2751G>T (p.Trp917Cys)
c.2760G>T (p.Trp920Cys)
c.2610G>T (p.Trp870Cys)
c.2946G>T (p.Trp982Cys)
 gnomAD v4
19g.13298885C=CA2323825842CACNA1Ac.2748G= (p.Trp916=)
c.2754G= (p.Trp918=)
c.2751G= (p.Trp917=)
c.2760G= (p.Trp920=)
c.2610G= (p.Trp870=)
c.2946G= (p.Trp982=)
19g.13298885C>GCA404342794CACNA1Ac.2748G>C (p.Trp916Cys)
c.2754G>C (p.Trp918Cys)
c.2751G>C (p.Trp917Cys)
c.2760G>C (p.Trp920Cys)
c.2610G>C (p.Trp870Cys)
c.2946G>C (p.Trp982Cys)
 gnomAD v4
19g.13298885C>TCA404342795CACNA1Ac.2748G>A (p.Trp916Ter)
c.2754G>A (p.Trp918Ter)
c.2751G>A (p.Trp917Ter)
c.2760G>A (p.Trp920Ter)
c.2610G>A (p.Trp870Ter)
c.2946G>A (p.Trp982Ter)
 dbSNP gnomAD v2 gnomAD v4
19g.13298886C>ACA404342796CACNA1Ac.2747G>T (p.Trp916Leu)
c.2753G>T (p.Trp918Leu)
c.2750G>T (p.Trp917Leu)
c.2759G>T (p.Trp920Leu)
c.2609G>T (p.Trp870Leu)
c.2945G>T (p.Trp982Leu)
 dbSNP gnomAD v2
19g.13298886C=CA2323825844CACNA1Ac.2747G= (p.Trp916=)
c.2753G= (p.Trp918=)
c.2750G= (p.Trp917=)
c.2759G= (p.Trp920=)
c.2609G= (p.Trp870=)
c.2945G= (p.Trp982=)
19g.13298886C>GCA404342798CACNA1Ac.2747G>C (p.Trp916Ser)
c.2753G>C (p.Trp918Ser)
c.2750G>C (p.Trp917Ser)
c.2759G>C (p.Trp920Ser)
c.2609G>C (p.Trp870Ser)
c.2945G>C (p.Trp982Ser)
19g.13298886C>TCA404342797CACNA1Ac.2747G>A (p.Trp916Ter)
c.2753G>A (p.Trp918Ter)
c.2750G>A (p.Trp917Ter)
c.2759G>A (p.Trp920Ter)
c.2609G>A (p.Trp870Ter)
c.2945G>A (p.Trp982Ter)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298887A>CCA404342799CACNA1Ac.2746T>G (p.Trp916Gly)
c.2752T>G (p.Trp918Gly)
c.2749T>G (p.Trp917Gly)
c.2758T>G (p.Trp920Gly)
c.2608T>G (p.Trp870Gly)
c.2944T>G (p.Trp982Gly)
19g.13298887A>GCA404342800CACNA1Ac.2746T>C (p.Trp916Arg)
c.2752T>C (p.Trp918Arg)
c.2749T>C (p.Trp917Arg)
c.2758T>C (p.Trp920Arg)
c.2608T>C (p.Trp870Arg)
c.2944T>C (p.Trp982Arg)
 gnomAD v4
19g.13298887A>TCA404342801CACNA1Ac.2746T>A (p.Trp916Arg)
c.2752T>A (p.Trp918Arg)
c.2749T>A (p.Trp917Arg)
c.2758T>A (p.Trp920Arg)
c.2608T>A (p.Trp870Arg)
c.2944T>A (p.Trp982Arg)
19g.13298888G>ACA505785287CACNA1Ac.2745C>T (p.Phe915=)
c.2751C>T (p.Phe917=)
c.2748C>T (p.Phe916=)
c.2757C>T (p.Phe919=)
c.2607C>T (p.Phe869=)
c.2943C>T (p.Phe981=)
19g.13298888G>CCA404342802CACNA1Ac.2745C>G (p.Phe915Leu)
c.2751C>G (p.Phe917Leu)
c.2748C>G (p.Phe916Leu)
c.2757C>G (p.Phe919Leu)
c.2607C>G (p.Phe869Leu)
c.2943C>G (p.Phe981Leu)
19g.13298888G>TCA404342803CACNA1Ac.2745C>A (p.Phe915Leu)
c.2751C>A (p.Phe917Leu)
c.2748C>A (p.Phe916Leu)
c.2757C>A (p.Phe919Leu)
c.2607C>A (p.Phe869Leu)
c.2943C>A (p.Phe981Leu)
19g.13298889A>CCA404342804CACNA1Ac.2744T>G (p.Phe915Cys)
c.2750T>G (p.Phe917Cys)
c.2747T>G (p.Phe916Cys)
c.2756T>G (p.Phe919Cys)
c.2606T>G (p.Phe869Cys)
c.2942T>G (p.Phe981Cys)
19g.13298889A>GCA404342805CACNA1Ac.2744T>C (p.Phe915Ser)
c.2750T>C (p.Phe917Ser)
c.2747T>C (p.Phe916Ser)
c.2756T>C (p.Phe919Ser)
c.2606T>C (p.Phe869Ser)
c.2942T>C (p.Phe981Ser)
19g.13298889A>TCA404342806CACNA1Ac.2744T>A (p.Phe915Tyr)
c.2750T>A (p.Phe917Tyr)
c.2747T>A (p.Phe916Tyr)
c.2756T>A (p.Phe919Tyr)
c.2606T>A (p.Phe869Tyr)
c.2942T>A (p.Phe981Tyr)
19g.13298890A>CCA404342807CACNA1Ac.2743T>G (p.Phe915Val)
c.2749T>G (p.Phe917Val)
c.2746T>G (p.Phe916Val)
c.2755T>G (p.Phe919Val)
c.2605T>G (p.Phe869Val)
c.2941T>G (p.Phe981Val)
19g.13298890A>GCA404342808CACNA1Ac.2743T>C (p.Phe915Leu)
c.2749T>C (p.Phe917Leu)
c.2746T>C (p.Phe916Leu)
c.2755T>C (p.Phe919Leu)
c.2605T>C (p.Phe869Leu)
c.2941T>C (p.Phe981Leu)
19g.13298890A>TCA404342809CACNA1Ac.2743T>A (p.Phe915Ile)
c.2749T>A (p.Phe917Ile)
c.2746T>A (p.Phe916Ile)
c.2755T>A (p.Phe919Ile)
c.2605T>A (p.Phe869Ile)
c.2941T>A (p.Phe981Ile)
19g.13298891C>ACA505785295CACNA1Ac.2742G>T (p.Gly914=)
c.2748G>T (p.Gly916=)
c.2745G>T (p.Gly915=)
c.2754G>T (p.Gly918=)
c.2604G>T (p.Gly868=)
c.2940G>T (p.Gly980=)
 gnomAD v4
19g.13298891C>GCA505785296CACNA1Ac.2742G>C (p.Gly914=)
c.2748G>C (p.Gly916=)
c.2745G>C (p.Gly915=)
c.2754G>C (p.Gly918=)
c.2604G>C (p.Gly868=)
c.2940G>C (p.Gly980=)
19g.13298891C>TCA505785297CACNA1Ac.2742G>A (p.Gly914=)
c.2748G>A (p.Gly916=)
c.2745G>A (p.Gly915=)
c.2754G>A (p.Gly918=)
c.2604G>A (p.Gly868=)
c.2940G>A (p.Gly980=)
 ClinVar dbSNP gnomAD v4
19g.13298892C>ACA404342810CACNA1Ac.2741G>T (p.Gly914Val)
c.2747G>T (p.Gly916Val)
c.2744G>T (p.Gly915Val)
c.2753G>T (p.Gly918Val)
c.2603G>T (p.Gly868Val)
c.2939G>T (p.Gly980Val)
19g.13298892C=CA2323825845CACNA1Ac.2741G= (p.Gly914=)
c.2747G= (p.Gly916=)
c.2744G= (p.Gly915=)
c.2753G= (p.Gly918=)
c.2603G= (p.Gly868=)
c.2939G= (p.Gly980=)
19g.13298892C>GCA9240490CACNA1Ac.2741G>C (p.Gly914Ala)
c.2747G>C (p.Gly916Ala)
c.2744G>C (p.Gly915Ala)
c.2753G>C (p.Gly918Ala)
c.2603G>C (p.Gly868Ala)
c.2939G>C (p.Gly980Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13298892C>TCA305506400CACNA1Ac.2741G>A (p.Gly914Glu)
c.2747G>A (p.Gly916Glu)
c.2744G>A (p.Gly915Glu)
c.2753G>A (p.Gly918Glu)
c.2603G>A (p.Gly868Glu)
c.2939G>A (p.Gly980Glu)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched