Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.13298820_13298830dup | CA915952496 | CACNA1A | c.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 |
19 | g.13298826T>A | CA404342677 | CACNA1A | c.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 |
19 | g.13298826T>C | CA404342675 | CACNA1A | c.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 |
19 | g.13298826T>G | CA404342676 | CACNA1A | c.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 |
19 | g.13298826T= | CA2323825762 | CACNA1A | c.2807A= (p.Gln936=) c.2813A= (p.Gln938=) c.2810A= (p.Gln937=) c.2819A= (p.Gln940=) c.2669A= (p.Gln890=) c.3005A= (p.Gln1002=) | |
19 | g.13298827G>A | CA404342678 | CACNA1A | c.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 |
19 | g.13298827G>C | CA404342679 | CACNA1A | c.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 |
19 | g.13298827G= | CA2323825763 | CACNA1A | c.2806C= (p.Gln936=) c.2812C= (p.Gln938=) c.2809C= (p.Gln937=) c.2818C= (p.Gln940=) c.2668C= (p.Gln890=) c.3004C= (p.Gln1002=) | |
19 | g.13298827G>T | CA404342680 | CACNA1A | c.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 |
19 | g.13298828C>A | CA505784982 | CACNA1A | c.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 |
19 | g.13298828C= | CA2323825765 | CACNA1A | c.2805G= (p.Arg935=) c.2811G= (p.Arg937=) c.2808G= (p.Arg936=) c.2817G= (p.Arg939=) c.2667G= (p.Arg889=) c.3003G= (p.Arg1001=) | |
19 | g.13298828C>G | CA505784983 | CACNA1A | c.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=) | |
19 | g.13298828C>T | CA305506325 | CACNA1A | c.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 |
19 | g.13298829del | CA2695228298 | CACNA1A | c.2805del (p.Gln936ArgfsTer?) c.2811del (p.Gln938ArgfsTer?) c.2808del (p.Gln937ArgfsTer?) c.2817del (p.Gln940ArgfsTer?) c.2667del (p.Gln890ArgfsTer?) c.3003del (p.Gln1002ArgfsTer?) | |
19 | g.13298829C>A | CA404342681 | CACNA1A | c.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 |
19 | g.13298829C= | CA2323825768 | CACNA1A | c.2804G= (p.Arg935=) c.2810G= (p.Arg937=) c.2807G= (p.Arg936=) c.2816G= (p.Arg939=) c.2666G= (p.Arg889=) c.3002G= (p.Arg1001=) | |
19 | g.13298829C>G | CA404342682 | CACNA1A | c.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) | |
19 | g.13298829C>T | CA9240473 | CACNA1A | c.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 |
19 | g.13298830G>A | CA305506330 | CACNA1A | c.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 |
19 | g.13298830G>C | CA404342683 | CACNA1A | c.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 |
19 | g.13298830G= | CA2323825770 | CACNA1A | c.2803C= (p.Arg935=) c.2809C= (p.Arg937=) c.2806C= (p.Arg936=) c.2815C= (p.Arg939=) c.2665C= (p.Arg889=) c.3001C= (p.Arg1001=) | |
19 | g.13298830G>T | CA505784985 | CACNA1A | c.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 |
19 | g.13298833_13298853dup | CA2582833355 | CACNA1A | c.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 |
19 | g.13298831G>A | CA505784986 | CACNA1A | c.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 |
19 | g.13298831G>C | CA9240474 | CACNA1A | c.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 |
19 | g.13298831G= | CA2323825772 | CACNA1A | c.2802C= (p.His934=) c.2808C= (p.His936=) c.2805C= (p.His935=) c.2814C= (p.His938=) c.2664C= (p.His888=) c.3000C= (p.His1000=) | |
19 | g.13298831G>T | CA404342684 | CACNA1A | c.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 |
19 | g.13298832T>A | CA404342687 | CACNA1A | c.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) | |
19 | g.13298832T>C | CA404342686 | CACNA1A | c.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 |
19 | g.13298832T>G | CA404342685 | CACNA1A | c.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) | |
19 | g.13298833G>A | CA404342688 | CACNA1A | c.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 |
19 | g.13298833G>C | CA404342689 | CACNA1A | c.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) | |
19 | g.13298833G>T | CA404342690 | CACNA1A | c.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) | |
19 | g.13298834C>A | CA505784992 | CACNA1A | c.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 |
19 | g.13298834C= | CA2323825774 | CACNA1A | c.2799G= (p.Val933=) c.2805G= (p.Val935=) c.2802G= (p.Val934=) c.2811G= (p.Val937=) c.2661G= (p.Val887=) c.2997G= (p.Val999=) | |
19 | g.13298834C>G | CA505784996 | CACNA1A | c.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=) | |
19 | g.13298834C>T | CA9240475 | CACNA1A | c.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 |
19 | g.13298835A>C | CA404342691 | CACNA1A | c.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) | |
19 | g.13298835A>G | CA404342692 | CACNA1A | c.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) | |
19 | g.13298835A>T | CA404342693 | CACNA1A | c.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) | |
19 | g.13298836C>A | CA404342694 | CACNA1A | c.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) | |
19 | g.13298836C= | CA2323825776 | CACNA1A | c.2797G= (p.Val933=) c.2803G= (p.Val935=) c.2800G= (p.Val934=) c.2809G= (p.Val937=) c.2659G= (p.Val887=) c.2995G= (p.Val999=) | |
19 | g.13298836C>G | CA404342695 | CACNA1A | c.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) | |
19 | g.13298836C>T | CA9240476 | CACNA1A | c.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 |
19 | g.13298837G>A | CA9240478 | CACNA1A | c.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 |
19 | g.13298837G>C | CA404342696 | CACNA1A | c.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 |
19 | g.13298837G= | CA2323825779 | CACNA1A | c.2796C= (p.His932=) c.2802C= (p.His934=) c.2799C= (p.His933=) c.2808C= (p.His936=) c.2658C= (p.His886=) c.2994C= (p.His998=) | |
19 | g.13298837G>T | CA9240477 | CACNA1A | c.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 |
19 | g.13298838T>A | CA404342697 | CACNA1A | c.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 |
19 | g.13298838T>C | CA404342699 | CACNA1A | c.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) | |
19 | g.13298838T>G | CA404342698 | CACNA1A | c.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) | |
19 | g.13298838T= | CA2323825781 | CACNA1A | c.2795A= (p.His932=) c.2801A= (p.His934=) c.2798A= (p.His933=) c.2807A= (p.His936=) c.2657A= (p.His886=) c.2993A= (p.His998=) | |
19 | g.13298839G>A | CA404342700 | CACNA1A | c.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 |
19 | g.13298839G>C | CA404342701 | CACNA1A | c.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) | |
19 | g.13298839G>T | CA404342702 | CACNA1A | c.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) | |
19 | g.13298840C>A | CA404342703 | CACNA1A | c.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 |
19 | g.13298840C= | CA2323825782 | CACNA1A | c.2793G= (p.Arg931=) c.2799G= (p.Arg933=) c.2796G= (p.Arg932=) c.2805G= (p.Arg935=) c.2655G= (p.Arg885=) c.2991G= (p.Arg997=) | |
19 | g.13298840C>G | CA404342704 | CACNA1A | c.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) | |
19 | g.13298840C>T | CA505785012 | CACNA1A | c.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 |
19 | g.13298841C>A | CA404342705 | CACNA1A | c.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 |
19 | g.13298841C>G | CA404342706 | CACNA1A | c.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) | |
19 | g.13298841C>T | CA404342707 | CACNA1A | c.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) | |
19 | g.13298842T>A | CA404342708 | CACNA1A | c.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) | |
19 | g.13298842T>C | CA404342709 | CACNA1A | c.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 |
19 | g.13298842T>G | CA505785019 | CACNA1A | c.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 |
19 | g.13298842T= | CA2323825784 | CACNA1A | c.2791A= (p.Arg931=) c.2797A= (p.Arg933=) c.2794A= (p.Arg932=) c.2803A= (p.Arg935=) c.2653A= (p.Arg885=) c.2989A= (p.Arg997=) | |
19 | g.13298843C>A | CA505785022 | CACNA1A | c.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 |
19 | g.13298843C= | CA2323825786 | CACNA1A | c.2790G= (p.Arg930=) c.2796G= (p.Arg932=) c.2793G= (p.Arg931=) c.2802G= (p.Arg934=) c.2652G= (p.Arg884=) c.2988G= (p.Arg996=) | |
19 | g.13298843C>G | CA505785023 | CACNA1A | c.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 |
19 | g.13298843C>T | CA505785024 | CACNA1A | c.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=) | |
19 | g.13298844C>A | CA404342710 | CACNA1A | c.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) | |
19 | g.13298844C= | CA2323825787 | CACNA1A | c.2789G= (p.Arg930=) c.2795G= (p.Arg932=) c.2792G= (p.Arg931=) c.2801G= (p.Arg934=) c.2651G= (p.Arg884=) c.2987G= (p.Arg996=) | |
19 | g.13298844C>G | CA404342711 | CACNA1A | c.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 |
19 | g.13298844C>T | CA9240479 | CACNA1A | c.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 |
19 | g.13298845G>A | CA9240480 | CACNA1A | c.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 |
19 | g.13298845G>C | CA404342712 | CACNA1A | c.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) | |
19 | g.13298845G= | CA2323825789 | CACNA1A | c.2788C= (p.Arg930=) c.2794C= (p.Arg932=) c.2791C= (p.Arg931=) c.2800C= (p.Arg934=) c.2650C= (p.Arg884=) c.2986C= (p.Arg996=) | |
19 | g.13298845G>T | CA505785032 | CACNA1A | c.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=) | |
19 | g.13298846G>A | CA505785034 | CACNA1A | c.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 |
19 | g.13298846G>C | CA404342713 | CACNA1A | c.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) | |
19 | g.13298846G= | CA2323825791 | CACNA1A | c.2787C= (p.His929=) c.2793C= (p.His931=) c.2790C= (p.His930=) c.2799C= (p.His933=) c.2649C= (p.His883=) c.2985C= (p.His995=) | |
19 | g.13298846G>T | CA404342714 | CACNA1A | c.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) | |
19 | g.13298847T>A | CA404342715 | CACNA1A | c.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 |
19 | g.13298847T>C | CA404342716 | CACNA1A | c.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 |
19 | g.13298847T>G | CA404342717 | CACNA1A | c.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) | |
19 | g.13298847T= | CA2323825794 | CACNA1A | c.2786A= (p.His929=) c.2792A= (p.His931=) c.2789A= (p.His930=) c.2798A= (p.His933=) c.2648A= (p.His883=) c.2984A= (p.His995=) | |
19 | g.13298847_13298848insA | CA658799159 | CACNA1A | c.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 |
19 | g.13298848G>A | CA404342718 | CACNA1A | c.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) | |
19 | g.13298848G>C | CA404342719 | CACNA1A | c.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) | |
19 | g.13298848G>T | CA404342720 | CACNA1A | c.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 |
19 | g.13298852del | CA2582833356 | CACNA1A | c.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 |
19 | g.13298849G>A | CA505785039 | CACNA1A | c.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=) | |
19 | g.13298849G>C | CA505785040 | CACNA1A | c.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 |
19 | g.13298849G>T | CA505785041 | CACNA1A | c.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 |
19 | g.13298850G>A | CA9240481 | CACNA1A | c.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 |
19 | g.13298850G>C | CA404342721 | CACNA1A | c.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 |
19 | g.13298850G= | CA2323825797 | CACNA1A | c.2783C= (p.Pro928=) c.2789C= (p.Pro930=) c.2786C= (p.Pro929=) c.2795C= (p.Pro932=) c.2645C= (p.Pro882=) c.2981C= (p.Pro994=) | |
19 | g.13298850G>T | CA404342722 | CACNA1A | c.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 |
19 | g.13298851G>A | CA404342725 | CACNA1A | c.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 |
19 | g.13298851G>C | CA404342724 | CACNA1A | c.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) | |
19 | g.13298851G>T | CA404342723 | CACNA1A | c.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 |
19 | g.13298852G>A | CA505785047 | CACNA1A | c.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 |
19 | g.13298852G>C | CA404342726 | CACNA1A | c.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) | |
19 | g.13298852G= | CA2323825799 | CACNA1A | c.2781C= (p.Asp927=) c.2787C= (p.Asp929=) c.2784C= (p.Asp928=) c.2793C= (p.Asp931=) c.2643C= (p.Asp881=) c.2979C= (p.Asp993=) | |
19 | g.13298852G>T | CA404342727 | CACNA1A | c.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) | |
19 | g.13298853T>A | CA404342728 | CACNA1A | c.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) | |
19 | g.13298853T>C | CA404342729 | CACNA1A | c.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 |
19 | g.13298853T>G | CA404342730 | CACNA1A | c.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) | |
19 | g.13298854C>A | CA404342731 | CACNA1A | c.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) | |
19 | g.13298854C= | CA2323825801 | CACNA1A | c.2779G= (p.Asp927=) c.2785G= (p.Asp929=) c.2782G= (p.Asp928=) c.2791G= (p.Asp931=) c.2641G= (p.Asp881=) c.2977G= (p.Asp993=) | |
19 | g.13298854C>G | CA404342732 | CACNA1A | c.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 |
19 | g.13298854C>T | CA404342733 | CACNA1A | c.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 |
19 | g.13298857del | CA2582833357 | CACNA1A | c.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 |
19 | g.13298855C>A | CA505785054 | CACNA1A | c.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 |
19 | g.13298855C= | CA2323825803 | CACNA1A | c.2778G= (p.Gly926=) c.2784G= (p.Gly928=) c.2781G= (p.Gly927=) c.2790G= (p.Gly930=) c.2640G= (p.Gly880=) c.2976G= (p.Gly992=) | |
19 | g.13298855C>G | CA505785055 | CACNA1A | c.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=) | |
19 | g.13298855C>T | CA305506354 | CACNA1A | c.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 |
19 | g.13298856C>A | CA404342734 | CACNA1A | c.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 |
19 | g.13298856C>G | CA404342735 | CACNA1A | c.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) | |
19 | g.13298856C>T | CA404342736 | CACNA1A | c.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 |
19 | g.13298857C>A | CA404342737 | CACNA1A | c.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 |
19 | g.13298857C= | CA2323825805 | CACNA1A | c.2776G= (p.Gly926=) c.2782G= (p.Gly928=) c.2779G= (p.Gly927=) c.2788G= (p.Gly930=) c.2638G= (p.Gly880=) c.2974G= (p.Gly992=) | |
19 | g.13298857C>G | CA404342738 | CACNA1A | c.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 |
19 | g.13298857C>T | CA404342739 | CACNA1A | c.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 |
19 | g.13298858G>A | CA505785062 | CACNA1A | c.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 |
19 | g.13298858G>C | CA505785065 | CACNA1A | c.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=) | |
19 | g.13298858G>T | CA505785063 | CACNA1A | c.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 |
19 | g.13298859G>A | CA9240482 | CACNA1A | c.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 |
19 | g.13298859G>C | CA404342741 | CACNA1A | c.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) | |
19 | g.13298859G= | CA2323825806 | CACNA1A | c.2774C= (p.Ala925=) c.2780C= (p.Ala927=) c.2777C= (p.Ala926=) c.2786C= (p.Ala929=) c.2636C= (p.Ala879=) c.2972C= (p.Ala991=) | |
19 | g.13298859G>T | CA404342740 | CACNA1A | c.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 |
19 | g.13298860C>A | CA404342742 | CACNA1A | c.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 |
19 | g.13298860C>G | CA404342743 | CACNA1A | c.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) | |
19 | g.13298860C>T | CA404342744 | CACNA1A | c.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 |
19 | g.13298861C>A | CA404342745 | CACNA1A | c.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 |
19 | g.13298861C>G | CA404342746 | CACNA1A | c.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 |
19 | g.13298861C>T | CA505785074 | CACNA1A | c.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 |
19 | g.13298862T>A | CA404342749 | CACNA1A | c.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) | |
19 | g.13298862T>C | CA404342748 | CACNA1A | c.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) | |
19 | g.13298862T>G | CA404342747 | CACNA1A | c.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) | |
19 | g.13298863T>A | CA404342750 | CACNA1A | c.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) | |
19 | g.13298863T>C | CA404342751 | CACNA1A | c.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 |
19 | g.13298863T>G | CA404342752 | CACNA1A | c.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) | |
19 | g.13298863T= | CA2323825809 | CACNA1A | c.2770A= (p.Lys924=) c.2776A= (p.Lys926=) c.2773A= (p.Lys925=) c.2782A= (p.Lys928=) c.2632A= (p.Lys878=) c.2968A= (p.Lys990=) | |
19 | g.13298864G>A | CA505785078 | CACNA1A | c.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 |
19 | g.13298864G>C | CA505785079 | CACNA1A | c.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 |
19 | g.13298864G= | CA2323825812 | CACNA1A | c.2769C= (p.Gly923=) c.2775C= (p.Gly925=) c.2772C= (p.Gly924=) c.2781C= (p.Gly927=) c.2631C= (p.Gly877=) c.2967C= (p.Gly989=) | |
19 | g.13298864G>T | CA505785080 | CACNA1A | c.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 |
19 | g.13298867_13298881dup | CA916082450 | CACNA1A | c.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 |
19 | g.13298865C>A | CA404342753 | CACNA1A | c.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 |
19 | g.13298865C= | CA2323825814 | CACNA1A | c.2768G= (p.Gly923=) c.2774G= (p.Gly925=) c.2771G= (p.Gly924=) c.2780G= (p.Gly927=) c.2630G= (p.Gly877=) c.2966G= (p.Gly989=) | |
19 | g.13298865C>G | CA404342754 | CACNA1A | c.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 |
19 | g.13298865C>T | CA404342755 | CACNA1A | c.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 |
19 | g.13298866C>A | CA404342756 | CACNA1A | c.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 |
19 | g.13298866C= | CA2323825816 | CACNA1A | c.2767G= (p.Gly923=) c.2773G= (p.Gly925=) c.2770G= (p.Gly924=) c.2779G= (p.Gly927=) c.2629G= (p.Gly877=) c.2965G= (p.Gly989=) | |
19 | g.13298866C>G | CA404342758 | CACNA1A | c.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) | |
19 | g.13298866C>T | CA404342757 | CACNA1A | c.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 |
19 | g.13298867T>A | CA505785235 | CACNA1A | c.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=) | |
19 | g.13298867T>C | CA505785233 | CACNA1A | c.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 |
19 | g.13298867T>G | CA505785234 | CACNA1A | c.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=) | |
19 | g.13298868C>A | CA16620791 | CACNA1A | c.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 |
19 | g.13298868C= | CA2323825818 | CACNA1A | c.2765G= (p.Arg922=) c.2771G= (p.Arg924=) c.2768G= (p.Arg923=) c.2777G= (p.Arg926=) c.2627G= (p.Arg876=) c.2963G= (p.Arg988=) | |
19 | g.13298868C>G | CA404342759 | CACNA1A | c.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 |
19 | g.13298868C>T | CA9240483 | CACNA1A | c.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 |
19 | g.13298869G>A | CA404342760 | CACNA1A | c.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 |
19 | g.13298869G>C | CA404342761 | CACNA1A | c.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) | |
19 | g.13298869G>T | CA505785237 | CACNA1A | c.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 |
19 | g.13298870C>A | CA404342762 | CACNA1A | c.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 |
19 | g.13298870C>G | CA404342763 | CACNA1A | c.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) | |
19 | g.13298870C>T | CA505785239 | CACNA1A | c.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=) | |
19 | g.13298871T>A | CA404342764 | CACNA1A | c.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) | |
19 | g.13298871T>C | CA404342765 | CACNA1A | c.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) | |
19 | g.13298871T>G | CA404342766 | CACNA1A | c.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) | |
19 | g.13298872C>A | CA404342769 | CACNA1A | c.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 |
19 | g.13298872C= | CA2323825821 | CACNA1A | c.2761G= (p.Glu921=) c.2767G= (p.Glu923=) c.2764G= (p.Glu922=) c.2773G= (p.Glu925=) c.2623G= (p.Glu875=) c.2959G= (p.Glu987=) | |
19 | g.13298872C>G | CA404342768 | CACNA1A | c.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) | |
19 | g.13298872C>T | CA404342767 | CACNA1A | c.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 |
19 | g.13298873G>A | CA505785244 | CACNA1A | c.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 |
19 | g.13298873G>C | CA505785245 | CACNA1A | c.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 |
19 | g.13298873G>T | CA505785246 | CACNA1A | c.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 |
19 | g.13298874G>A | CA9240485 | CACNA1A | c.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 |
19 | g.13298874G>C | CA9240484 | CACNA1A | c.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 |
19 | g.13298874G= | CA2323825823 | CACNA1A | c.2759C= (p.Ala920=) c.2765C= (p.Ala922=) c.2762C= (p.Ala921=) c.2771C= (p.Ala924=) c.2621C= (p.Ala874=) c.2957C= (p.Ala986=) | |
19 | g.13298874G>T | CA404342770 | CACNA1A | c.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 |
19 | g.13298875C>A | CA404342771 | CACNA1A | c.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 |
19 | g.13298875C>G | CA404342773 | CACNA1A | c.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) | |
19 | g.13298875C>T | CA404342772 | CACNA1A | c.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 |
19 | g.13298879_13298884dup | CA2323825826 | CACNA1A | c.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 |
19 | g.13298876C>A | CA404342774 | CACNA1A | c.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) | |
19 | g.13298876C= | CA2323825828 | CACNA1A | c.2757G= (p.Glu919=) c.2763G= (p.Glu921=) c.2760G= (p.Glu920=) c.2769G= (p.Glu923=) c.2619G= (p.Glu873=) c.2955G= (p.Glu985=) | |
19 | g.13298876C>G | CA9240487 | CACNA1A | c.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 |
19 | g.13298876C>T | CA9240486 | CACNA1A | c.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 |
19 | g.13298877T>A | CA404342775 | CACNA1A | c.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) | |
19 | g.13298877T>C | CA404342776 | CACNA1A | c.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 |
19 | g.13298877T>G | CA404342777 | CACNA1A | c.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) | |
19 | g.13298878C>A | CA404342778 | CACNA1A | c.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 |
19 | g.13298878C= | CA2323825830 | CACNA1A | c.2755G= (p.Glu919=) c.2761G= (p.Glu921=) c.2758G= (p.Glu920=) c.2767G= (p.Glu923=) c.2617G= (p.Glu873=) c.2953G= (p.Glu985=) | |
19 | g.13298878C>G | CA404342779 | CACNA1A | c.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) | |
19 | g.13298878C>T | CA404342780 | CACNA1A | c.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 |
19 | g.13298879G>A | CA9240488 | CACNA1A | c.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 |
19 | g.13298879G>C | CA505785269 | CACNA1A | c.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=) | |
19 | g.13298879G= | CA2323825833 | CACNA1A | c.2754C= (p.Gly918=) c.2760C= (p.Gly920=) c.2757C= (p.Gly919=) c.2766C= (p.Gly922=) c.2616C= (p.Gly872=) c.2952C= (p.Gly984=) | |
19 | g.13298879G>T | CA505785270 | CACNA1A | c.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=) | |
19 | g.13298880C>A | CA404342781 | CACNA1A | c.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 |
19 | g.13298880C= | CA2323825836 | CACNA1A | c.2753G= (p.Gly918=) c.2759G= (p.Gly920=) c.2756G= (p.Gly919=) c.2765G= (p.Gly922=) c.2615G= (p.Gly872=) c.2951G= (p.Gly984=) | |
19 | g.13298880C>G | CA404342782 | CACNA1A | c.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) | |
19 | g.13298880C>T | CA404342783 | CACNA1A | c.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 |
19 | g.13298882del | CA2582833360 | CACNA1A | c.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 |
19 | g.13298881C>A | CA404342786 | CACNA1A | c.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 |
19 | g.13298881C>G | CA404342784 | CACNA1A | c.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) | |
19 | g.13298881C>T | CA404342785 | CACNA1A | c.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 |
19 | g.13298882C>A | CA404342787 | CACNA1A | c.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 |
19 | g.13298882C= | CA2323825837 | CACNA1A | c.2751G= (p.Glu917=) c.2757G= (p.Glu919=) c.2754G= (p.Glu918=) c.2763G= (p.Glu921=) c.2613G= (p.Glu871=) c.2949G= (p.Glu983=) | |
19 | g.13298882C>G | CA152091 | CACNA1A | c.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 |
19 | g.13298882C>T | CA9240489 | CACNA1A | c.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 |
19 | g.13298883T>A | CA404342788 | CACNA1A | c.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 |
19 | g.13298883T>C | CA404342789 | CACNA1A | c.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 |
19 | g.13298883T>G | CA404342790 | CACNA1A | c.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) | |
19 | g.13298884C>A | CA404342791 | CACNA1A | c.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) | |
19 | g.13298884C= | CA2323825840 | CACNA1A | c.2749G= (p.Glu917=) c.2755G= (p.Glu919=) c.2752G= (p.Glu918=) c.2761G= (p.Glu921=) c.2611G= (p.Glu871=) c.2947G= (p.Glu983=) | |
19 | g.13298884C>G | CA404342792 | CACNA1A | c.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 |
19 | g.13298884C>T | CA305506396 | CACNA1A | c.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 |
19 | g.13298885C>A | CA404342793 | CACNA1A | c.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 |
19 | g.13298885C= | CA2323825842 | CACNA1A | c.2748G= (p.Trp916=) c.2754G= (p.Trp918=) c.2751G= (p.Trp917=) c.2760G= (p.Trp920=) c.2610G= (p.Trp870=) c.2946G= (p.Trp982=) | |
19 | g.13298885C>G | CA404342794 | CACNA1A | c.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 |
19 | g.13298885C>T | CA404342795 | CACNA1A | c.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 |
19 | g.13298886C>A | CA404342796 | CACNA1A | c.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 |
19 | g.13298886C= | CA2323825844 | CACNA1A | c.2747G= (p.Trp916=) c.2753G= (p.Trp918=) c.2750G= (p.Trp917=) c.2759G= (p.Trp920=) c.2609G= (p.Trp870=) c.2945G= (p.Trp982=) | |
19 | g.13298886C>G | CA404342798 | CACNA1A | c.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) | |
19 | g.13298886C>T | CA404342797 | CACNA1A | c.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 |
19 | g.13298887A>C | CA404342799 | CACNA1A | c.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) | |
19 | g.13298887A>G | CA404342800 | CACNA1A | c.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 |
19 | g.13298887A>T | CA404342801 | CACNA1A | c.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) | |
19 | g.13298888G>A | CA505785287 | CACNA1A | c.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=) | |
19 | g.13298888G>C | CA404342802 | CACNA1A | c.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) | |
19 | g.13298888G>T | CA404342803 | CACNA1A | c.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) | |
19 | g.13298889A>C | CA404342804 | CACNA1A | c.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) | |
19 | g.13298889A>G | CA404342805 | CACNA1A | c.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) | |
19 | g.13298889A>T | CA404342806 | CACNA1A | c.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) | |
19 | g.13298890A>C | CA404342807 | CACNA1A | c.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) | |
19 | g.13298890A>G | CA404342808 | CACNA1A | c.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) | |
19 | g.13298890A>T | CA404342809 | CACNA1A | c.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) | |
19 | g.13298891C>A | CA505785295 | CACNA1A | c.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 |
19 | g.13298891C>G | CA505785296 | CACNA1A | c.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=) | |
19 | g.13298891C>T | CA505785297 | CACNA1A | c.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 |
19 | g.13298892C>A | CA404342810 | CACNA1A | c.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) | |
19 | g.13298892C= | CA2323825845 | CACNA1A | c.2741G= (p.Gly914=) c.2747G= (p.Gly916=) c.2744G= (p.Gly915=) c.2753G= (p.Gly918=) c.2603G= (p.Gly868=) c.2939G= (p.Gly980=) | |
19 | g.13298892C>G | CA9240490 | CACNA1A | c.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 |
19 | g.13298892C>T | CA305506400 | CACNA1A | c.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 |
19 | g.13298893C>A | CA404342811 | CACNA1A | c.2740G>T (p.Gly914Trp) c.2746G>T (p.Gly916Trp) c.2743G>T (p.Gly915Trp) c.2752G>T (p.Gly918Trp) c.2602G>T (p.Gly868Trp) c.2938G>T (p.Gly980Trp) | gnomAD v4 |
19 | g.13298893C>G | CA404342812 | CACNA1A | c.2740G>C (p.Gly914Arg) c.2746G>C (p.Gly916Arg) c.2743G>C (p.Gly915Arg) c.2752G>C (p.Gly918Arg) c.2602G>C (p.Gly868Arg) c.2938G>C (p.Gly980Arg) | |
19 | g.13298893C>T | CA404342813 | CACNA1A | c.2740G>A (p.Gly914Arg) c.2746G>A (p.Gly916Arg) c.2743G>A (p.Gly915Arg) c.2752G>A (p.Gly918Arg) c.2602G>A (p.Gly868Arg) c.2938G>A (p.Gly980Arg) | gnomAD v4 |
19 | g.13298894G>A | CA152088 | CACNA1A | c.2739C>T (p.Pro913=) c.2745C>T (p.Pro915=) c.2742C>T (p.Pro914=) c.2751C>T (p.Pro917=) c.2601C>T (p.Pro867=) c.2937C>T (p.Pro979=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13298894G>C | CA9240491 | CACNA1A | c.2739C>G (p.Pro913=) c.2745C>G (p.Pro915=) c.2742C>G (p.Pro914=) c.2751C>G (p.Pro917=) c.2601C>G (p.Pro867=) c.2937C>G (p.Pro979=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13298894G= | CA2323825849 | CACNA1A | c.2739C= (p.Pro913=) c.2745C= (p.Pro915=) c.2742C= (p.Pro914=) c.2751C= (p.Pro917=) c.2601C= (p.Pro867=) c.2937C= (p.Pro979=) | |
19 | g.13298894G>T | CA505785309 | CACNA1A | c.2739C>A (p.Pro913=) c.2745C>A (p.Pro915=) c.2742C>A (p.Pro914=) c.2751C>A (p.Pro917=) c.2601C>A (p.Pro867=) c.2937C>A (p.Pro979=) | gnomAD v4 |
19 | g.13298894_13298896delinsAGA | CA10605911 | CACNA1A | c.2737_2739delinsTCT (p.Pro913Ser) c.2743_2745delinsTCT (p.Pro915Ser) c.2740_2742delinsTCT (p.Pro914Ser) c.2749_2751delinsTCT (p.Pro917Ser) c.2599_2601delinsTCT (p.Pro867Ser) c.2935_2937delinsTCT (p.Pro979Ser) | ClinVar dbSNP |
19 | g.13298894_13298896delinsGGG | CA2323825851 | CACNA1A | c.2737_2739delinsCCC (p.Pro913=) c.2743_2745delinsCCC (p.Pro915=) c.2740_2742delinsCCC (p.Pro914=) c.2749_2751delinsCCC (p.Pro917=) c.2599_2601delinsCCC (p.Pro867=) c.2935_2937delinsCCC (p.Pro979=) | |
19 | g.13298895G>A | CA404342814 | CACNA1A | c.2738C>T (p.Pro913Leu) c.2744C>T (p.Pro915Leu) c.2741C>T (p.Pro914Leu) c.2750C>T (p.Pro917Leu) c.2600C>T (p.Pro867Leu) c.2936C>T (p.Pro979Leu) | gnomAD v4 |
19 | g.13298895G>C | CA404342815 | CACNA1A | c.2738C>G (p.Pro913Arg) c.2744C>G (p.Pro915Arg) c.2741C>G (p.Pro914Arg) c.2750C>G (p.Pro917Arg) c.2600C>G (p.Pro867Arg) c.2936C>G (p.Pro979Arg) | |
19 | g.13298895G= | CA2323825853 | CACNA1A | c.2738C= (p.Pro913=) c.2744C= (p.Pro915=) c.2741C= (p.Pro914=) c.2750C= (p.Pro917=) c.2600C= (p.Pro867=) c.2936C= (p.Pro979=) | |
19 | g.13298895G>T | CA404342816 | CACNA1A | c.2738C>A (p.Pro913His) c.2744C>A (p.Pro915His) c.2741C>A (p.Pro914His) c.2750C>A (p.Pro917His) c.2600C>A (p.Pro867His) c.2936C>A (p.Pro979His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13298895_13298910delinsCA | CA2697556336 | CACNA1A | c.2723_2738delinsTG (p.Gly908ValfsTer?) c.2729_2744delinsTG (p.Gly910ValfsTer?) c.2726_2741delinsTG (p.Gly909ValfsTer?) c.2735_2750delinsTG (p.Gly912ValfsTer?) c.2585_2600delinsTG (p.Gly862ValfsTer?) c.2921_2936delinsTG (p.Gly974ValfsTer?) | ClinVar |
19 | g.13298896G>A | CA152085 | CACNA1A | c.2737C>T (p.Pro913Ser) c.2743C>T (p.Pro915Ser) c.2740C>T (p.Pro914Ser) c.2749C>T (p.Pro917Ser) c.2599C>T (p.Pro867Ser) c.2935C>T (p.Pro979Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13298896G>C | CA404342817 | CACNA1A | c.2737C>G (p.Pro913Ala) c.2743C>G (p.Pro915Ala) c.2740C>G (p.Pro914Ala) c.2749C>G (p.Pro917Ala) c.2599C>G (p.Pro867Ala) c.2935C>G (p.Pro979Ala) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13298896G= | CA2323825855 | CACNA1A | c.2737C= (p.Pro913=) c.2743C= (p.Pro915=) c.2740C= (p.Pro914=) c.2749C= (p.Pro917=) c.2599C= (p.Pro867=) c.2935C= (p.Pro979=) | |
19 | g.13298896G>T | CA404342818 | CACNA1A | c.2737C>A (p.Pro913Thr) c.2743C>A (p.Pro915Thr) c.2740C>A (p.Pro914Thr) c.2749C>A (p.Pro917Thr) c.2599C>A (p.Pro867Thr) c.2935C>A (p.Pro979Thr) | gnomAD v4 |
19 | g.13298897T>A | CA404342819 | CACNA1A | c.2736A>T (p.Gln912His) c.2742A>T (p.Gln914His) c.2739A>T (p.Gln913His) c.2748A>T (p.Gln916His) c.2598A>T (p.Gln866His) c.2934A>T (p.Gln978His) | |
19 | g.13298897T>C | CA505785318 | CACNA1A | c.2736A>G (p.Gln912=) c.2742A>G (p.Gln914=) c.2739A>G (p.Gln913=) c.2748A>G (p.Gln916=) c.2598A>G (p.Gln866=) c.2934A>G (p.Gln978=) | |
19 | g.13298897T>G | CA404342820 | CACNA1A | c.2736A>C (p.Gln912His) c.2742A>C (p.Gln914His) c.2739A>C (p.Gln913His) c.2748A>C (p.Gln916His) c.2598A>C (p.Gln866His) c.2934A>C (p.Gln978His) | |
19 | g.13298898T>A | CA404342821 | CACNA1A | c.2735A>T (p.Gln912Leu) c.2741A>T (p.Gln914Leu) c.2738A>T (p.Gln913Leu) c.2747A>T (p.Gln916Leu) c.2597A>T (p.Gln866Leu) c.2933A>T (p.Gln978Leu) | |
19 | g.13298898T>C | CA404342823 | CACNA1A | c.2735A>G (p.Gln912Arg) c.2741A>G (p.Gln914Arg) c.2738A>G (p.Gln913Arg) c.2747A>G (p.Gln916Arg) c.2597A>G (p.Gln866Arg) c.2933A>G (p.Gln978Arg) | |
19 | g.13298898T>G | CA404342822 | CACNA1A | c.2735A>C (p.Gln912Pro) c.2741A>C (p.Gln914Pro) c.2738A>C (p.Gln913Pro) c.2747A>C (p.Gln916Pro) c.2597A>C (p.Gln866Pro) c.2933A>C (p.Gln978Pro) | |
19 | g.13298899G>A | CA404342824 | CACNA1A | c.2734C>T (p.Gln912Ter) c.2740C>T (p.Gln914Ter) c.2737C>T (p.Gln913Ter) c.2746C>T (p.Gln916Ter) c.2596C>T (p.Gln866Ter) c.2932C>T (p.Gln978Ter) | ClinVar dbSNP gnomAD v4 |
19 | g.13298899G>C | CA404342825 | CACNA1A | c.2734C>G (p.Gln912Glu) c.2740C>G (p.Gln914Glu) c.2737C>G (p.Gln913Glu) c.2746C>G (p.Gln916Glu) c.2596C>G (p.Gln866Glu) c.2932C>G (p.Gln978Glu) | gnomAD v4 |
19 | g.13298899G= | CA2323825857 | CACNA1A | c.2734C= (p.Gln912=) c.2740C= (p.Gln914=) c.2737C= (p.Gln913=) c.2746C= (p.Gln916=) c.2596C= (p.Gln866=) c.2932C= (p.Gln978=) | |
19 | g.13298899G>T | CA404342826 | CACNA1A | c.2734C>A (p.Gln912Lys) c.2740C>A (p.Gln914Lys) c.2737C>A (p.Gln913Lys) c.2746C>A (p.Gln916Lys) c.2596C>A (p.Gln866Lys) c.2932C>A (p.Gln978Lys) | gnomAD v4 |
19 | g.13298900C>A | CA404342827 | CACNA1A | c.2733G>T (p.Glu911Asp) c.2739G>T (p.Glu913Asp) c.2736G>T (p.Glu912Asp) c.2745G>T (p.Glu915Asp) c.2595G>T (p.Glu865Asp) c.2931G>T (p.Glu977Asp) | |
19 | g.13298900C= | CA2323825858 | CACNA1A | c.2733G= (p.Glu911=) c.2739G= (p.Glu913=) c.2736G= (p.Glu912=) c.2745G= (p.Glu915=) c.2595G= (p.Glu865=) c.2931G= (p.Glu977=) | |
19 | g.13298900C>G | CA404342828 | CACNA1A | c.2733G>C (p.Glu911Asp) c.2739G>C (p.Glu913Asp) c.2736G>C (p.Glu912Asp) c.2745G>C (p.Glu915Asp) c.2595G>C (p.Glu865Asp) c.2931G>C (p.Glu977Asp) | |
19 | g.13298900C>T | CA505785326 | CACNA1A | c.2733G>A (p.Glu911=) c.2739G>A (p.Glu913=) c.2736G>A (p.Glu912=) c.2745G>A (p.Glu915=) c.2595G>A (p.Glu865=) c.2931G>A (p.Glu977=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13298901T>A | CA404342829 | CACNA1A | c.2732A>T (p.Glu911Val) c.2738A>T (p.Glu913Val) c.2735A>T (p.Glu912Val) c.2744A>T (p.Glu915Val) c.2594A>T (p.Glu865Val) c.2930A>T (p.Glu977Val) | |
19 | g.13298901T>C | CA404342830 | CACNA1A | c.2732A>G (p.Glu911Gly) c.2738A>G (p.Glu913Gly) c.2735A>G (p.Glu912Gly) c.2744A>G (p.Glu915Gly) c.2594A>G (p.Glu865Gly) c.2930A>G (p.Glu977Gly) | |
19 | g.13298901T>G | CA404342831 | CACNA1A | c.2732A>C (p.Glu911Ala) c.2738A>C (p.Glu913Ala) c.2735A>C (p.Glu912Ala) c.2744A>C (p.Glu915Ala) c.2594A>C (p.Glu865Ala) c.2930A>C (p.Glu977Ala) | |
19 | g.13298902C>A | CA404342832 | CACNA1A | c.2731G>T (p.Glu911Ter) c.2737G>T (p.Glu913Ter) c.2734G>T (p.Glu912Ter) c.2743G>T (p.Glu915Ter) c.2593G>T (p.Glu865Ter) c.2929G>T (p.Glu977Ter) | gnomAD v4 |
19 | g.13298902C= | CA2323825860 | CACNA1A | c.2731G= (p.Glu911=) c.2737G= (p.Glu913=) c.2734G= (p.Glu912=) c.2743G= (p.Glu915=) c.2593G= (p.Glu865=) c.2929G= (p.Glu977=) | |
19 | g.13298902C>G | CA404342833 | CACNA1A | c.2731G>C (p.Glu911Gln) c.2737G>C (p.Glu913Gln) c.2734G>C (p.Glu912Gln) c.2743G>C (p.Glu915Gln) c.2593G>C (p.Glu865Gln) c.2929G>C (p.Glu977Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13298902C>T | CA404342834 | CACNA1A | c.2731G>A (p.Glu911Lys) c.2737G>A (p.Glu913Lys) c.2734G>A (p.Glu912Lys) c.2743G>A (p.Glu915Lys) c.2593G>A (p.Glu865Lys) c.2929G>A (p.Glu977Lys) | |
19 | g.13298903C>A | CA505785330 | CACNA1A | c.2730G>T (p.Leu910=) c.2736G>T (p.Leu912=) c.2733G>T (p.Leu911=) c.2742G>T (p.Leu914=) c.2592G>T (p.Leu864=) c.2928G>T (p.Leu976=) | gnomAD v4 |
19 | g.13298903C= | CA2323825861 | CACNA1A | c.2730G= (p.Leu910=) c.2736G= (p.Leu912=) c.2733G= (p.Leu911=) c.2742G= (p.Leu914=) c.2592G= (p.Leu864=) c.2928G= (p.Leu976=) | |
19 | g.13298903C>G | CA505785332 | CACNA1A | c.2730G>C (p.Leu910=) c.2736G>C (p.Leu912=) c.2733G>C (p.Leu911=) c.2742G>C (p.Leu914=) c.2592G>C (p.Leu864=) c.2928G>C (p.Leu976=) | |
19 | g.13298903C>T | CA305506418 | CACNA1A | c.2730G>A (p.Leu910=) c.2736G>A (p.Leu912=) c.2733G>A (p.Leu911=) c.2742G>A (p.Leu914=) c.2592G>A (p.Leu864=) c.2928G>A (p.Leu976=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.13298904A= | CA2323825864 | CACNA1A | c.2729T= (p.Leu910=) c.2735T= (p.Leu912=) c.2732T= (p.Leu911=) c.2741T= (p.Leu914=) c.2591T= (p.Leu864=) c.2927T= (p.Leu976=) | |
19 | g.13298904A>C | CA305506421 | CACNA1A | c.2729T>G (p.Leu910Arg) c.2735T>G (p.Leu912Arg) c.2732T>G (p.Leu911Arg) c.2741T>G (p.Leu914Arg) c.2591T>G (p.Leu864Arg) c.2927T>G (p.Leu976Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13298904A>G | CA404342835 | CACNA1A | c.2729T>C (p.Leu910Pro) c.2735T>C (p.Leu912Pro) c.2732T>C (p.Leu911Pro) c.2741T>C (p.Leu914Pro) c.2591T>C (p.Leu864Pro) c.2927T>C (p.Leu976Pro) | gnomAD v4 |
19 | g.13298904A>T | CA16620792 | CACNA1A | c.2729T>A (p.Leu910Gln) c.2735T>A (p.Leu912Gln) c.2732T>A (p.Leu911Gln) c.2741T>A (p.Leu914Gln) c.2591T>A (p.Leu864Gln) c.2927T>A (p.Leu976Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.13298905G>A | CA9240492 | CACNA1A | c.2728C>T (p.Leu910=) c.2734C>T (p.Leu912=) c.2731C>T (p.Leu911=) c.2740C>T (p.Leu914=) c.2590C>T (p.Leu864=) c.2926C>T (p.Leu976=) | dbSNP ExAC gnomAD v2 |
19 | g.13298905G>C | CA404342836 | CACNA1A | c.2728C>G (p.Leu910Val) c.2734C>G (p.Leu912Val) c.2731C>G (p.Leu911Val) c.2740C>G (p.Leu914Val) c.2590C>G (p.Leu864Val) c.2926C>G (p.Leu976Val) | ClinVar |
19 | g.13298905G= | CA2323825865 | CACNA1A | c.2728C= (p.Leu910=) c.2734C= (p.Leu912=) c.2731C= (p.Leu911=) c.2740C= (p.Leu914=) c.2590C= (p.Leu864=) c.2926C= (p.Leu976=) | |
19 | g.13298905G>T | CA404342837 | CACNA1A | c.2728C>A (p.Leu910Met) c.2734C>A (p.Leu912Met) c.2731C>A (p.Leu911Met) c.2740C>A (p.Leu914Met) c.2590C>A (p.Leu864Met) c.2926C>A (p.Leu976Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13298906G>A | CA505785340 | CACNA1A | c.2727C>T (p.Ser909=) c.2733C>T (p.Ser911=) c.2730C>T (p.Ser910=) c.2739C>T (p.Ser913=) c.2589C>T (p.Ser863=) c.2925C>T (p.Ser975=) | |
19 | g.13298906G>C | CA404342838 | CACNA1A | c.2727C>G (p.Ser909Arg) c.2733C>G (p.Ser911Arg) c.2730C>G (p.Ser910Arg) c.2739C>G (p.Ser913Arg) c.2589C>G (p.Ser863Arg) c.2925C>G (p.Ser975Arg) | |
19 | g.13298906G>T | CA404342839 | CACNA1A | c.2727C>A (p.Ser909Arg) c.2733C>A (p.Ser911Arg) c.2730C>A (p.Ser910Arg) c.2739C>A (p.Ser913Arg) c.2589C>A (p.Ser863Arg) c.2925C>A (p.Ser975Arg) | gnomAD v4 |
19 | g.13298907C>A | CA404342840 | CACNA1A | c.2726G>T (p.Ser909Ile) c.2732G>T (p.Ser911Ile) c.2729G>T (p.Ser910Ile) c.2738G>T (p.Ser913Ile) c.2588G>T (p.Ser863Ile) c.2924G>T (p.Ser975Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13298907C= | CA2323825867 | CACNA1A | c.2726G= (p.Ser909=) c.2732G= (p.Ser911=) c.2729G= (p.Ser910=) c.2738G= (p.Ser913=) c.2588G= (p.Ser863=) c.2924G= (p.Ser975=) | |
19 | g.13298907C>G | CA404342841 | CACNA1A | c.2726G>C (p.Ser909Thr) c.2732G>C (p.Ser911Thr) c.2729G>C (p.Ser910Thr) c.2738G>C (p.Ser913Thr) c.2588G>C (p.Ser863Thr) c.2924G>C (p.Ser975Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13298907C>T | CA404342842 | CACNA1A | c.2726G>A (p.Ser909Asn) c.2732G>A (p.Ser911Asn) c.2729G>A (p.Ser910Asn) c.2738G>A (p.Ser913Asn) c.2588G>A (p.Ser863Asn) c.2924G>A (p.Ser975Asn) | ClinVar dbSNP gnomAD v4 |
19 | g.13298908T>A | CA404342843 | CACNA1A | c.2725A>T (p.Ser909Cys) c.2731A>T (p.Ser911Cys) c.2728A>T (p.Ser910Cys) c.2737A>T (p.Ser913Cys) c.2587A>T (p.Ser863Cys) c.2923A>T (p.Ser975Cys) | |
19 | g.13298908T>C | CA404342844 | CACNA1A | c.2725A>G (p.Ser909Gly) c.2731A>G (p.Ser911Gly) c.2728A>G (p.Ser910Gly) c.2737A>G (p.Ser913Gly) c.2587A>G (p.Ser863Gly) c.2923A>G (p.Ser975Gly) | gnomAD v4 |
19 | g.13298908T>G | CA404342845 | CACNA1A | c.2725A>C (p.Ser909Arg) c.2731A>C (p.Ser911Arg) c.2728A>C (p.Ser910Arg) c.2737A>C (p.Ser913Arg) c.2587A>C (p.Ser863Arg) c.2923A>C (p.Ser975Arg) | |
19 | g.13298909G>A | CA505785347 | CACNA1A | c.2724C>T (p.Gly908=) c.2730C>T (p.Gly910=) c.2727C>T (p.Gly909=) c.2736C>T (p.Gly912=) c.2586C>T (p.Gly862=) c.2922C>T (p.Gly974=) | gnomAD v4 |
19 | g.13298909G>C | CA505785350 | CACNA1A | c.2724C>G (p.Gly908=) c.2730C>G (p.Gly910=) c.2727C>G (p.Gly909=) c.2736C>G (p.Gly912=) c.2586C>G (p.Gly862=) c.2922C>G (p.Gly974=) | |
19 | g.13298909G>T | CA505785355 | CACNA1A | c.2724C>A (p.Gly908=) c.2730C>A (p.Gly910=) c.2727C>A (p.Gly909=) c.2736C>A (p.Gly912=) c.2586C>A (p.Gly862=) c.2922C>A (p.Gly974=) | |
19 | g.13298910_13298921del | CA2582833431 | CACNA1A | c.2713_2724del (p.Ala905_Gly908del) c.2719_2730del (p.Ala907_Gly910del) c.2716_2727del (p.Ala906_Gly909del) c.2725_2736del (p.Ala909_Gly912del) c.2575_2586del (p.Ala859_Gly862del) c.2911_2922del (p.Ala971_Gly974del) | gnomAD v4 |
19 | g.13298910C>A | CA404342847 | CACNA1A | c.2723G>T (p.Gly908Val) c.2729G>T (p.Gly910Val) c.2726G>T (p.Gly909Val) c.2735G>T (p.Gly912Val) c.2585G>T (p.Gly862Val) c.2921G>T (p.Gly974Val) | gnomAD v4 |
19 | g.13298910C= | CA2323825868 | CACNA1A | c.2723G= (p.Gly908=) c.2729G= (p.Gly910=) c.2726G= (p.Gly909=) c.2735G= (p.Gly912=) c.2585G= (p.Gly862=) c.2921G= (p.Gly974=) | |
19 | g.13298910C>G | CA404342846 | CACNA1A | c.2723G>C (p.Gly908Ala) c.2729G>C (p.Gly910Ala) c.2726G>C (p.Gly909Ala) c.2735G>C (p.Gly912Ala) c.2585G>C (p.Gly862Ala) c.2921G>C (p.Gly974Ala) | |
19 | g.13298910C>T | CA9240493 | CACNA1A | c.2723G>A (p.Gly908Asp) c.2729G>A (p.Gly910Asp) c.2726G>A (p.Gly909Asp) c.2735G>A (p.Gly912Asp) c.2585G>A (p.Gly862Asp) c.2921G>A (p.Gly974Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
19 | g.13298911C>A | CA404342848 | CACNA1A | c.2722G>T (p.Gly908Cys) c.2728G>T (p.Gly910Cys) c.2725G>T (p.Gly909Cys) c.2734G>T (p.Gly912Cys) c.2584G>T (p.Gly862Cys) c.2920G>T (p.Gly974Cys) | gnomAD v4 |
19 | g.13298911C= | CA2323825870 | CACNA1A | c.2722G= (p.Gly908=) c.2728G= (p.Gly910=) c.2725G= (p.Gly909=) c.2734G= (p.Gly912=) c.2584G= (p.Gly862=) c.2920G= (p.Gly974=) | |
19 | g.13298911C>G | CA404342849 | CACNA1A | c.2722G>C (p.Gly908Arg) c.2728G>C (p.Gly910Arg) c.2725G>C (p.Gly909Arg) c.2734G>C (p.Gly912Arg) c.2584G>C (p.Gly862Arg) c.2920G>C (p.Gly974Arg) | gnomAD v4 |
19 | g.13298911C>T | CA305506428 | CACNA1A | c.2722G>A (p.Gly908Ser) c.2728G>A (p.Gly910Ser) c.2725G>A (p.Gly909Ser) c.2734G>A (p.Gly912Ser) c.2584G>A (p.Gly862Ser) c.2920G>A (p.Gly974Ser) | dbSNP |
19 | g.13298912C>A | CA404342850 | CACNA1A | c.2721G>T (p.Glu907Asp) c.2727G>T (p.Glu909Asp) c.2724G>T (p.Glu908Asp) c.2733G>T (p.Glu911Asp) c.2583G>T (p.Glu861Asp) c.2919G>T (p.Glu973Asp) | |
19 | g.13298912C>G | CA404342851 | CACNA1A | c.2721G>C (p.Glu907Asp) c.2727G>C (p.Glu909Asp) c.2724G>C (p.Glu908Asp) c.2733G>C (p.Glu911Asp) c.2583G>C (p.Glu861Asp) c.2919G>C (p.Glu973Asp) | |
19 | g.13298912C>T | CA505785359 | CACNA1A | c.2721G>A (p.Glu907=) c.2727G>A (p.Glu909=) c.2724G>A (p.Glu908=) c.2733G>A (p.Glu911=) c.2583G>A (p.Glu861=) c.2919G>A (p.Glu973=) | |
19 | g.13298913T>A | CA404342852 | CACNA1A | c.2720A>T (p.Glu907Val) c.2726A>T (p.Glu909Val) c.2723A>T (p.Glu908Val) c.2732A>T (p.Glu911Val) c.2582A>T (p.Glu861Val) c.2918A>T (p.Glu973Val) | |
19 | g.13298913T>C | CA404342853 | CACNA1A | c.2720A>G (p.Glu907Gly) c.2726A>G (p.Glu909Gly) c.2723A>G (p.Glu908Gly) c.2732A>G (p.Glu911Gly) c.2582A>G (p.Glu861Gly) c.2918A>G (p.Glu973Gly) | ClinVar dbSNP |
19 | g.13298913T>G | CA404342854 | CACNA1A | c.2720A>C (p.Glu907Ala) c.2726A>C (p.Glu909Ala) c.2723A>C (p.Glu908Ala) c.2732A>C (p.Glu911Ala) c.2582A>C (p.Glu861Ala) c.2918A>C (p.Glu973Ala) | |
19 | g.13298914C>A | CA404342855 | CACNA1A | c.2719G>T (p.Glu907Ter) c.2725G>T (p.Glu909Ter) c.2722G>T (p.Glu908Ter) c.2731G>T (p.Glu911Ter) c.2581G>T (p.Glu861Ter) c.2917G>T (p.Glu973Ter) | gnomAD v4 |
19 | g.13298914C>G | CA404342856 | CACNA1A | c.2719G>C (p.Glu907Gln) c.2725G>C (p.Glu909Gln) c.2722G>C (p.Glu908Gln) c.2731G>C (p.Glu911Gln) c.2581G>C (p.Glu861Gln) c.2917G>C (p.Glu973Gln) | gnomAD v4 |
19 | g.13298914C>T | CA404342857 | CACNA1A | c.2719G>A (p.Glu907Lys) c.2725G>A (p.Glu909Lys) c.2722G>A (p.Glu908Lys) c.2731G>A (p.Glu911Lys) c.2581G>A (p.Glu861Lys) c.2917G>A (p.Glu973Lys) | gnomAD v4 |
19 | g.13298915C>A | CA505785364 | CACNA1A | c.2718G>T (p.Arg906=) c.2724G>T (p.Arg908=) c.2721G>T (p.Arg907=) c.2730G>T (p.Arg910=) c.2580G>T (p.Arg860=) c.2916G>T (p.Arg972=) | gnomAD v4 |
19 | g.13298915C= | CA2323825873 | CACNA1A | c.2718G= (p.Arg906=) c.2724G= (p.Arg908=) c.2721G= (p.Arg907=) c.2730G= (p.Arg910=) c.2580G= (p.Arg860=) c.2916G= (p.Arg972=) | |
19 | g.13298915C>G | CA505785365 | CACNA1A | c.2718G>C (p.Arg906=) c.2724G>C (p.Arg908=) c.2721G>C (p.Arg907=) c.2730G>C (p.Arg910=) c.2580G>C (p.Arg860=) c.2916G>C (p.Arg972=) | |
19 | g.13298915C>T | CA16607735 | CACNA1A | c.2718G>A (p.Arg906=) c.2724G>A (p.Arg908=) c.2721G>A (p.Arg907=) c.2730G>A (p.Arg910=) c.2580G>A (p.Arg860=) c.2916G>A (p.Arg972=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
19 | g.13298916C>A | CA404342858 | CACNA1A | c.2717G>T (p.Arg906Leu) c.2723G>T (p.Arg908Leu) c.2720G>T (p.Arg907Leu) c.2729G>T (p.Arg910Leu) c.2579G>T (p.Arg860Leu) c.2915G>T (p.Arg972Leu) | gnomAD v4 |
19 | g.13298916C= | CA2323825875 | CACNA1A | c.2717G= (p.Arg906=) c.2723G= (p.Arg908=) c.2720G= (p.Arg907=) c.2729G= (p.Arg910=) c.2579G= (p.Arg860=) c.2915G= (p.Arg972=) | |
19 | g.13298916C>G | CA404342859 | CACNA1A | c.2717G>C (p.Arg906Pro) c.2723G>C (p.Arg908Pro) c.2720G>C (p.Arg907Pro) c.2729G>C (p.Arg910Pro) c.2579G>C (p.Arg860Pro) c.2915G>C (p.Arg972Pro) | |
19 | g.13298916C>T | CA9240494 | CACNA1A | c.2717G>A (p.Arg906Gln) c.2723G>A (p.Arg908Gln) c.2720G>A (p.Arg907Gln) c.2729G>A (p.Arg910Gln) c.2579G>A (p.Arg860Gln) c.2915G>A (p.Arg972Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13298917G>A | CA404342860 | CACNA1A | c.2716C>T (p.Arg906Trp) c.2722C>T (p.Arg908Trp) c.2719C>T (p.Arg907Trp) c.2728C>T (p.Arg910Trp) c.2578C>T (p.Arg860Trp) c.2914C>T (p.Arg972Trp) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
19 | g.13298917G>C | CA404342861 | CACNA1A | c.2716C>G (p.Arg906Gly) c.2722C>G (p.Arg908Gly) c.2719C>G (p.Arg907Gly) c.2728C>G (p.Arg910Gly) c.2578C>G (p.Arg860Gly) c.2914C>G (p.Arg972Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13298917G= | CA2323825877 | CACNA1A | c.2716C= (p.Arg906=) c.2722C= (p.Arg908=) c.2719C= (p.Arg907=) c.2728C= (p.Arg910=) c.2578C= (p.Arg860=) c.2914C= (p.Arg972=) | |
19 | g.13298917G>T | CA505785369 | CACNA1A | c.2716C>A (p.Arg906=) c.2722C>A (p.Arg908=) c.2719C>A (p.Arg907=) c.2728C>A (p.Arg910=) c.2578C>A (p.Arg860=) c.2914C>A (p.Arg972=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13298918G>A | CA505785373 | CACNA1A | c.2715C>T (p.Ala905=) c.2721C>T (p.Ala907=) c.2718C>T (p.Ala906=) c.2727C>T (p.Ala909=) c.2577C>T (p.Ala859=) c.2913C>T (p.Ala971=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.13298918G>C | CA505785370 | CACNA1A | c.2715C>G (p.Ala905=) c.2721C>G (p.Ala907=) c.2718C>G (p.Ala906=) c.2727C>G (p.Ala909=) c.2577C>G (p.Ala859=) c.2913C>G (p.Ala971=) | ClinVar |
19 | g.13298918G= | CA2323825878 | CACNA1A | c.2715C= (p.Ala905=) c.2721C= (p.Ala907=) c.2718C= (p.Ala906=) c.2727C= (p.Ala909=) c.2577C= (p.Ala859=) c.2913C= (p.Ala971=) | |
19 | g.13298918G>T | CA505785371 | CACNA1A | c.2715C>A (p.Ala905=) c.2721C>A (p.Ala907=) c.2718C>A (p.Ala906=) c.2727C>A (p.Ala909=) c.2577C>A (p.Ala859=) c.2913C>A (p.Ala971=) | gnomAD v4 |
19 | g.13298919G>A | CA404342862 | CACNA1A | c.2714C>T (p.Ala905Val) c.2720C>T (p.Ala907Val) c.2717C>T (p.Ala906Val) c.2726C>T (p.Ala909Val) c.2576C>T (p.Ala859Val) c.2912C>T (p.Ala971Val) | gnomAD v4 |
19 | g.13298919G>C | CA404342863 | CACNA1A | c.2714C>G (p.Ala905Gly) c.2720C>G (p.Ala907Gly) c.2717C>G (p.Ala906Gly) c.2726C>G (p.Ala909Gly) c.2576C>G (p.Ala859Gly) c.2912C>G (p.Ala971Gly) | |
19 | g.13298919G>T | CA404342864 | CACNA1A | c.2714C>A (p.Ala905Asp) c.2720C>A (p.Ala907Asp) c.2717C>A (p.Ala906Asp) c.2726C>A (p.Ala909Asp) c.2576C>A (p.Ala859Asp) c.2912C>A (p.Ala971Asp) | |
19 | g.13298920C>A | CA404342865 | CACNA1A | c.2713G>T (p.Ala905Ser) c.2719G>T (p.Ala907Ser) c.2716G>T (p.Ala906Ser) c.2725G>T (p.Ala909Ser) c.2575G>T (p.Ala859Ser) c.2911G>T (p.Ala971Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13298920C= | CA2323825880 | CACNA1A | c.2713G= (p.Ala905=) c.2719G= (p.Ala907=) c.2716G= (p.Ala906=) c.2725G= (p.Ala909=) c.2575G= (p.Ala859=) c.2911G= (p.Ala971=) | |
19 | g.13298920C>G | CA404342866 | CACNA1A | c.2713G>C (p.Ala905Pro) c.2719G>C (p.Ala907Pro) c.2716G>C (p.Ala906Pro) c.2725G>C (p.Ala909Pro) c.2575G>C (p.Ala859Pro) c.2911G>C (p.Ala971Pro) | |
19 | g.13298920C>T | CA404342867 | CACNA1A | c.2713G>A (p.Ala905Thr) c.2719G>A (p.Ala907Thr) c.2716G>A (p.Ala906Thr) c.2725G>A (p.Ala909Thr) c.2575G>A (p.Ala859Thr) c.2911G>A (p.Ala971Thr) | COSMIC COSMIC COSMIC COSMIC |
19 | g.13298921G>A | CA9240495 | CACNA1A | c.2712C>T (p.His904=) c.2718C>T (p.His906=) c.2715C>T (p.His905=) c.2724C>T (p.His908=) c.2574C>T (p.His858=) c.2910C>T (p.His970=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13298921G>C | CA404342868 | CACNA1A | c.2712C>G (p.His904Gln) c.2718C>G (p.His906Gln) c.2715C>G (p.His905Gln) c.2724C>G (p.His908Gln) c.2574C>G (p.His858Gln) c.2910C>G (p.His970Gln) | |
19 | g.13298921G= | CA2323825882 | CACNA1A | c.2712C= (p.His904=) c.2718C= (p.His906=) c.2715C= (p.His905=) c.2724C= (p.His908=) c.2574C= (p.His858=) c.2910C= (p.His970=) | |
19 | g.13298921G>T | CA404342869 | CACNA1A | c.2712C>A (p.His904Gln) c.2718C>A (p.His906Gln) c.2715C>A (p.His905Gln) c.2724C>A (p.His908Gln) c.2574C>A (p.His858Gln) c.2910C>A (p.His970Gln) | |
19 | g.13298922T>A | CA404342870 | CACNA1A | c.2711A>T (p.His904Leu) c.2717A>T (p.His906Leu) c.2714A>T (p.His905Leu) c.2723A>T (p.His908Leu) c.2573A>T (p.His858Leu) c.2909A>T (p.His970Leu) | |
19 | g.13298922T>C | CA404342871 | CACNA1A | c.2711A>G (p.His904Arg) c.2717A>G (p.His906Arg) c.2714A>G (p.His905Arg) c.2723A>G (p.His908Arg) c.2573A>G (p.His858Arg) c.2909A>G (p.His970Arg) | gnomAD v4 |
19 | g.13298922T>G | CA404342872 | CACNA1A | c.2711A>C (p.His904Pro) c.2717A>C (p.His906Pro) c.2714A>C (p.His905Pro) c.2723A>C (p.His908Pro) c.2573A>C (p.His858Pro) c.2909A>C (p.His970Pro) | |
19 | g.13298923G>A | CA404342874 | CACNA1A | c.2710C>T (p.His904Tyr) c.2716C>T (p.His906Tyr) c.2713C>T (p.His905Tyr) c.2722C>T (p.His908Tyr) c.2572C>T (p.His858Tyr) c.2908C>T (p.His970Tyr) | gnomAD v4 |
19 | g.13298923G>C | CA404342875 | CACNA1A | c.2710C>G (p.His904Asp) c.2716C>G (p.His906Asp) c.2713C>G (p.His905Asp) c.2722C>G (p.His908Asp) c.2572C>G (p.His858Asp) c.2908C>G (p.His970Asp) | gnomAD v4 |
19 | g.13298923G= | CA2323825885 | CACNA1A | c.2710C= (p.His904=) c.2716C= (p.His906=) c.2713C= (p.His905=) c.2722C= (p.His908=) c.2572C= (p.His858=) c.2908C= (p.His970=) | |
19 | g.13298923G>T | CA404342873 | CACNA1A | c.2710C>A (p.His904Asn) c.2716C>A (p.His906Asn) c.2713C>A (p.His905Asn) c.2722C>A (p.His908Asn) c.2572C>A (p.His858Asn) c.2908C>A (p.His970Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13298924G>A | CA505785380 | CACNA1A | c.2709C>T (p.His903=) c.2715C>T (p.His905=) c.2712C>T (p.His904=) c.2721C>T (p.His907=) c.2571C>T (p.His857=) c.2907C>T (p.His969=) | gnomAD v4 |
19 | g.13298924G>C | CA404342877 | CACNA1A | c.2709C>G (p.His903Gln) c.2715C>G (p.His905Gln) c.2712C>G (p.His904Gln) c.2721C>G (p.His907Gln) c.2571C>G (p.His857Gln) c.2907C>G (p.His969Gln) | |
19 | g.13298924G>T | CA404342876 | CACNA1A | c.2709C>A (p.His903Gln) c.2715C>A (p.His905Gln) c.2712C>A (p.His904Gln) c.2721C>A (p.His907Gln) c.2571C>A (p.His857Gln) c.2907C>A (p.His969Gln) | gnomAD v4 |
19 | g.13298925T>A | CA404342878 | CACNA1A | c.2708A>T (p.His903Leu) c.2714A>T (p.His905Leu) c.2711A>T (p.His904Leu) c.2720A>T (p.His907Leu) c.2570A>T (p.His857Leu) c.2906A>T (p.His969Leu) | |
19 | g.13298925T>C | CA404342879 | CACNA1A | c.2708A>G (p.His903Arg) c.2714A>G (p.His905Arg) c.2711A>G (p.His904Arg) c.2720A>G (p.His907Arg) c.2570A>G (p.His857Arg) c.2906A>G (p.His969Arg) | dbSNP |
19 | g.13298925T>G | CA404342880 | CACNA1A | c.2708A>C (p.His903Pro) c.2714A>C (p.His905Pro) c.2711A>C (p.His904Pro) c.2720A>C (p.His907Pro) c.2570A>C (p.His857Pro) c.2906A>C (p.His969Pro) | ClinVar dbSNP |
19 | g.13298925T= | CA2323825887 | CACNA1A | c.2708A= (p.His903=) c.2714A= (p.His905=) c.2711A= (p.His904=) c.2720A= (p.His907=) c.2570A= (p.His857=) c.2906A= (p.His969=) | |
19 | g.13298926G>A | CA9240496 | CACNA1A | c.2707C>T (p.His903Tyr) c.2713C>T (p.His905Tyr) c.2710C>T (p.His904Tyr) c.2719C>T (p.His907Tyr) c.2569C>T (p.His857Tyr) c.2905C>T (p.His969Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13298926G>C | CA404342881 | CACNA1A | c.2707C>G (p.His903Asp) c.2713C>G (p.His905Asp) c.2710C>G (p.His904Asp) c.2719C>G (p.His907Asp) c.2569C>G (p.His857Asp) c.2905C>G (p.His969Asp) | |
19 | g.13298926G= | CA2323825890 | CACNA1A | c.2707C= (p.His903=) c.2713C= (p.His905=) c.2710C= (p.His904=) c.2719C= (p.His907=) c.2569C= (p.His857=) c.2905C= (p.His969=) | |
19 | g.13298926G>T | CA404342882 | CACNA1A | c.2707C>A (p.His903Asn) c.2713C>A (p.His905Asn) c.2710C>A (p.His904Asn) c.2719C>A (p.His907Asn) c.2569C>A (p.His857Asn) c.2905C>A (p.His969Asn) | gnomAD v4 |