Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.13298767_13298768delinsGACA2323826022CACNA1Ac.2865_2866delinsTC (p.His955=)
c.2871_2872delinsTC (p.His957=)
c.2868_2869delinsTC (p.His956=)
c.2877_2878delinsTC (p.His959=)
c.2727_2728delinsTC (p.His909=)
c.3063_3064delinsTC (p.His1021=)
19g.13298768delCA274487CACNA1Ac.2865del (p.Arg956AspfsTer?)
c.2871del (p.Arg958AspfsTer?)
c.2868del (p.Arg957AspfsTer?)
c.2877del (p.Arg960AspfsTer?)
c.2727del (p.Arg910AspfsTer?)
c.3063del (p.Arg1022AspfsTer?)
 ClinVar dbSNP
19g.13298768A=CA2323826027CACNA1Ac.2865T= (p.His955=)
c.2871T= (p.His957=)
c.2868T= (p.His956=)
c.2877T= (p.His959=)
c.2727T= (p.His909=)
c.3063T= (p.His1021=)
19g.13298768A>CCA404342560CACNA1Ac.2865T>G (p.His955Gln)
c.2871T>G (p.His957Gln)
c.2868T>G (p.His956Gln)
c.2877T>G (p.His959Gln)
c.2727T>G (p.His909Gln)
c.3063T>G (p.His1021Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.13298768A>GCA505784827CACNA1Ac.2865T>C (p.His955=)
c.2871T>C (p.His957=)
c.2868T>C (p.His956=)
c.2877T>C (p.His959=)
c.2727T>C (p.His909=)
c.3063T>C (p.His1021=)
 dbSNP
19g.13298768A>TCA404342561CACNA1Ac.2865T>A (p.His955Gln)
c.2871T>A (p.His957Gln)
c.2868T>A (p.His956Gln)
c.2877T>A (p.His959Gln)
c.2727T>A (p.His909Gln)
c.3063T>A (p.His1021Gln)
 gnomAD v4
19g.13298768dupCA920063092CACNA1Ac.2865dup (p.Arg956SerfsTer?)
c.2871dup (p.Arg958SerfsTer?)
c.2868dup (p.Arg957SerfsTer?)
c.2877dup (p.Arg960SerfsTer?)
c.2727dup (p.Arg910SerfsTer?)
c.3063dup (p.Arg1022SerfsTer?)
 dbSNP
19g.13298769T>ACA404342562CACNA1Ac.2864A>T (p.His955Leu)
c.2870A>T (p.His957Leu)
c.2867A>T (p.His956Leu)
c.2876A>T (p.His959Leu)
c.2726A>T (p.His909Leu)
c.3062A>T (p.His1021Leu)
19g.13298769T>CCA404342563CACNA1Ac.2864A>G (p.His955Arg)
c.2870A>G (p.His957Arg)
c.2867A>G (p.His956Arg)
c.2876A>G (p.His959Arg)
c.2726A>G (p.His909Arg)
c.3062A>G (p.His1021Arg)
 gnomAD v4
19g.13298769T>GCA404342564CACNA1Ac.2864A>C (p.His955Pro)
c.2870A>C (p.His957Pro)
c.2867A>C (p.His956Pro)
c.2876A>C (p.His959Pro)
c.2726A>C (p.His909Pro)
c.3062A>C (p.His1021Pro)
19g.13298770G>ACA404342565CACNA1Ac.2863C>T (p.His955Tyr)
c.2869C>T (p.His957Tyr)
c.2866C>T (p.His956Tyr)
c.2875C>T (p.His959Tyr)
c.2725C>T (p.His909Tyr)
c.3061C>T (p.His1021Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.13298770G>CCA404342566CACNA1Ac.2863C>G (p.His955Asp)
c.2869C>G (p.His957Asp)
c.2866C>G (p.His956Asp)
c.2875C>G (p.His959Asp)
c.2725C>G (p.His909Asp)
c.3061C>G (p.His1021Asp)
19g.13298770G=CA2323826029CACNA1Ac.2863C= (p.His955=)
c.2869C= (p.His957=)
c.2866C= (p.His956=)
c.2875C= (p.His959=)
c.2725C= (p.His909=)
c.3061C= (p.His1021=)
19g.13298770G>TCA404342567CACNA1Ac.2863C>A (p.His955Asn)
c.2869C>A (p.His957Asn)
c.2866C>A (p.His956Asn)
c.2875C>A (p.His959Asn)
c.2725C>A (p.His909Asn)
c.3061C>A (p.His1021Asn)
 gnomAD v4
19g.13298771C>ACA404342568CACNA1Ac.2862G>T (p.Glu954Asp)
c.2868G>T (p.Glu956Asp)
c.2865G>T (p.Glu955Asp)
c.2874G>T (p.Glu958Asp)
c.2724G>T (p.Glu908Asp)
c.3060G>T (p.Glu1020Asp)
19g.13298771C=CA2323826030CACNA1Ac.2862G= (p.Glu954=)
c.2868G= (p.Glu956=)
c.2865G= (p.Glu955=)
c.2874G= (p.Glu958=)
c.2724G= (p.Glu908=)
c.3060G= (p.Glu1020=)
19g.13298771C>GCA404342569CACNA1Ac.2862G>C (p.Glu954Asp)
c.2868G>C (p.Glu956Asp)
c.2865G>C (p.Glu955Asp)
c.2874G>C (p.Glu958Asp)
c.2724G>C (p.Glu908Asp)
c.3060G>C (p.Glu1020Asp)
19g.13298771C>TCA505784832CACNA1Ac.2862G>A (p.Glu954=)
c.2868G>A (p.Glu956=)
c.2865G>A (p.Glu955=)
c.2874G>A (p.Glu958=)
c.2724G>A (p.Glu908=)
c.3060G>A (p.Glu1020=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298772T>ACA404342570CACNA1Ac.2861A>T (p.Glu954Val)
c.2867A>T (p.Glu956Val)
c.2864A>T (p.Glu955Val)
c.2873A>T (p.Glu958Val)
c.2723A>T (p.Glu908Val)
c.3059A>T (p.Glu1020Val)
 gnomAD v4
19g.13298772T>CCA404342571CACNA1Ac.2861A>G (p.Glu954Gly)
c.2867A>G (p.Glu956Gly)
c.2864A>G (p.Glu955Gly)
c.2873A>G (p.Glu958Gly)
c.2723A>G (p.Glu908Gly)
c.3059A>G (p.Glu1020Gly)
 gnomAD v4
19g.13298772T>GCA404342572CACNA1Ac.2861A>C (p.Glu954Ala)
c.2867A>C (p.Glu956Ala)
c.2864A>C (p.Glu955Ala)
c.2873A>C (p.Glu958Ala)
c.2723A>C (p.Glu908Ala)
c.3059A>C (p.Glu1020Ala)
19g.13298773C>ACA404342573CACNA1Ac.2860G>T (p.Glu954Ter)
c.2866G>T (p.Glu956Ter)
c.2863G>T (p.Glu955Ter)
c.2872G>T (p.Glu958Ter)
c.2722G>T (p.Glu908Ter)
c.3058G>T (p.Glu1020Ter)
 gnomAD v4
19g.13298773C=CA2323826032CACNA1Ac.2860G= (p.Glu954=)
c.2866G= (p.Glu956=)
c.2863G= (p.Glu955=)
c.2872G= (p.Glu958=)
c.2722G= (p.Glu908=)
c.3058G= (p.Glu1020=)
19g.13298773C>GCA404342574CACNA1Ac.2860G>C (p.Glu954Gln)
c.2866G>C (p.Glu956Gln)
c.2863G>C (p.Glu955Gln)
c.2872G>C (p.Glu958Gln)
c.2722G>C (p.Glu908Gln)
c.3058G>C (p.Glu1020Gln)
19g.13298773C>TCA404342575CACNA1Ac.2860G>A (p.Glu954Lys)
c.2866G>A (p.Glu956Lys)
c.2863G>A (p.Glu955Lys)
c.2872G>A (p.Glu958Lys)
c.2722G>A (p.Glu908Lys)
c.3058G>A (p.Glu1020Lys)
 dbSNP gnomAD v4
19g.13298776delCA2582833354CACNA1Ac.2860del (p.Glu954SerfsTer?)
c.2866del (p.Glu956SerfsTer?)
c.2863del (p.Glu955SerfsTer?)
c.2872del (p.Glu958SerfsTer?)
c.2722del (p.Glu908SerfsTer?)
c.3058del (p.Glu1020SerfsTer?)
 gnomAD v4
19g.13298774C>ACA505784837CACNA1Ac.2859G>T (p.Gly953=)
c.2865G>T (p.Gly955=)
c.2862G>T (p.Gly954=)
c.2871G>T (p.Gly957=)
c.2721G>T (p.Gly907=)
c.3057G>T (p.Gly1019=)
 gnomAD v4
19g.13298774C>GCA505784840CACNA1Ac.2859G>C (p.Gly953=)
c.2865G>C (p.Gly955=)
c.2862G>C (p.Gly954=)
c.2871G>C (p.Gly957=)
c.2721G>C (p.Gly907=)
c.3057G>C (p.Gly1019=)
 dbSNP
19g.13298774C>TCA505784842CACNA1Ac.2859G>A (p.Gly953=)
c.2865G>A (p.Gly955=)
c.2862G>A (p.Gly954=)
c.2871G>A (p.Gly957=)
c.2721G>A (p.Gly907=)
c.3057G>A (p.Gly1019=)
 ClinVar gnomAD v4
19g.13298779_13298788delCA2695228297CACNA1Ac.2850_2859del (p.Ala951SerfsTer?)
c.2856_2865del (p.Ala953SerfsTer?)
c.2853_2862del (p.Ala952SerfsTer?)
c.2862_2871del (p.Ala955SerfsTer?)
c.2712_2721del (p.Ala905SerfsTer?)
c.3048_3057del (p.Ala1017SerfsTer?)
19g.13298775C>ACA404342576CACNA1Ac.2858G>T (p.Gly953Val)
c.2864G>T (p.Gly955Val)
c.2861G>T (p.Gly954Val)
c.2870G>T (p.Gly957Val)
c.2720G>T (p.Gly907Val)
c.3056G>T (p.Gly1019Val)
 gnomAD v4
19g.13298775C=CA2323826033CACNA1Ac.2858G= (p.Gly953=)
c.2864G= (p.Gly955=)
c.2861G= (p.Gly954=)
c.2870G= (p.Gly957=)
c.2720G= (p.Gly907=)
c.3056G= (p.Gly1019=)
19g.13298775C>GCA404342577CACNA1Ac.2858G>C (p.Gly953Ala)
c.2864G>C (p.Gly955Ala)
c.2861G>C (p.Gly954Ala)
c.2870G>C (p.Gly957Ala)
c.2720G>C (p.Gly907Ala)
c.3056G>C (p.Gly1019Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.13298775C>TCA305506247CACNA1Ac.2858G>A (p.Gly953Glu)
c.2864G>A (p.Gly955Glu)
c.2861G>A (p.Gly954Glu)
c.2870G>A (p.Gly957Glu)
c.2720G>A (p.Gly907Glu)
c.3056G>A (p.Gly1019Glu)
 ClinVar dbSNP gnomAD v4
19g.13298776C>ACA404342578CACNA1Ac.2857G>T (p.Gly953Trp)
c.2863G>T (p.Gly955Trp)
c.2860G>T (p.Gly954Trp)
c.2869G>T (p.Gly957Trp)
c.2719G>T (p.Gly907Trp)
c.3055G>T (p.Gly1019Trp)
 gnomAD v4
19g.13298776C=CA2323826036CACNA1Ac.2857G= (p.Gly953=)
c.2863G= (p.Gly955=)
c.2860G= (p.Gly954=)
c.2869G= (p.Gly957=)
c.2719G= (p.Gly907=)
c.3055G= (p.Gly1019=)
19g.13298776C>GCA404342579CACNA1Ac.2857G>C (p.Gly953Arg)
c.2863G>C (p.Gly955Arg)
c.2860G>C (p.Gly954Arg)
c.2869G>C (p.Gly957Arg)
c.2719G>C (p.Gly907Arg)
c.3055G>C (p.Gly1019Arg)
 dbSNP
19g.13298776C>TCA16043087CACNA1Ac.2857G>A (p.Gly953Arg)
c.2863G>A (p.Gly955Arg)
c.2860G>A (p.Gly954Arg)
c.2869G>A (p.Gly957Arg)
c.2719G>A (p.Gly907Arg)
c.3055G>A (p.Gly1019Arg)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298777G>ACA505784845CACNA1Ac.2856C>T (p.Asp952=)
c.2862C>T (p.Asp954=)
c.2859C>T (p.Asp953=)
c.2868C>T (p.Asp956=)
c.2718C>T (p.Asp906=)
c.3054C>T (p.Asp1018=)
 dbSNP gnomAD v4
19g.13298777G>CCA404342580CACNA1Ac.2856C>G (p.Asp952Glu)
c.2862C>G (p.Asp954Glu)
c.2859C>G (p.Asp953Glu)
c.2868C>G (p.Asp956Glu)
c.2718C>G (p.Asp906Glu)
c.3054C>G (p.Asp1018Glu)
19g.13298777G=CA2323826038CACNA1Ac.2856C= (p.Asp952=)
c.2862C= (p.Asp954=)
c.2859C= (p.Asp953=)
c.2868C= (p.Asp956=)
c.2718C= (p.Asp906=)
c.3054C= (p.Asp1018=)
19g.13298777G>TCA404342581CACNA1Ac.2856C>A (p.Asp952Glu)
c.2862C>A (p.Asp954Glu)
c.2859C>A (p.Asp953Glu)
c.2868C>A (p.Asp956Glu)
c.2718C>A (p.Asp906Glu)
c.3054C>A (p.Asp1018Glu)
 ClinVar dbSNP gnomAD v4
19g.13298778T>ACA404342582CACNA1Ac.2855A>T (p.Asp952Val)
c.2861A>T (p.Asp954Val)
c.2858A>T (p.Asp953Val)
c.2867A>T (p.Asp956Val)
c.2717A>T (p.Asp906Val)
c.3053A>T (p.Asp1018Val)
19g.13298778T>CCA404342583CACNA1Ac.2855A>G (p.Asp952Gly)
c.2861A>G (p.Asp954Gly)
c.2858A>G (p.Asp953Gly)
c.2867A>G (p.Asp956Gly)
c.2717A>G (p.Asp906Gly)
c.3053A>G (p.Asp1018Gly)
19g.13298778T>GCA404342584CACNA1Ac.2855A>C (p.Asp952Ala)
c.2861A>C (p.Asp954Ala)
c.2858A>C (p.Asp953Ala)
c.2867A>C (p.Asp956Ala)
c.2717A>C (p.Asp906Ala)
c.3053A>C (p.Asp1018Ala)
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.13298779C>ACA404342585CACNA1Ac.2854G>T (p.Asp952Tyr)
c.2860G>T (p.Asp954Tyr)
c.2857G>T (p.Asp953Tyr)
c.2866G>T (p.Asp956Tyr)
c.2716G>T (p.Asp906Tyr)
c.3052G>T (p.Asp1018Tyr)
 gnomAD v4
19g.13298779C>GCA404342586CACNA1Ac.2854G>C (p.Asp952His)
c.2860G>C (p.Asp954His)
c.2857G>C (p.Asp953His)
c.2866G>C (p.Asp956His)
c.2716G>C (p.Asp906His)
c.3052G>C (p.Asp1018His)
19g.13298779C>TCA404342587CACNA1Ac.2854G>A (p.Asp952Asn)
c.2860G>A (p.Asp954Asn)
c.2857G>A (p.Asp953Asn)
c.2866G>A (p.Asp956Asn)
c.2716G>A (p.Asp906Asn)
c.3052G>A (p.Asp1018Asn)
19g.13298779_13298789delinsCCGCGCCCGTGCA2323826040CACNA1Ac.2844_2854delinsCACGGGCGCGG (p.Arg948=)
c.2850_2860delinsCACGGGCGCGG (p.Arg950=)
c.2847_2857delinsCACGGGCGCGG (p.Arg949=)
c.2856_2866delinsCACGGGCGCGG (p.Arg952=)
c.2706_2716delinsCACGGGCGCGG (p.Arg902=)
c.3042_3052delinsCACGGGCGCGG (p.Arg1014=)
19g.13298780C>ACA505784850CACNA1Ac.2853G>T (p.Ala951=)
c.2859G>T (p.Ala953=)
c.2856G>T (p.Ala952=)
c.2865G>T (p.Ala955=)
c.2715G>T (p.Ala905=)
c.3051G>T (p.Ala1017=)
 gnomAD v4
19g.13298780C=CA2323826043CACNA1Ac.2853G= (p.Ala951=)
c.2859G= (p.Ala953=)
c.2856G= (p.Ala952=)
c.2865G= (p.Ala955=)
c.2715G= (p.Ala905=)
c.3051G= (p.Ala1017=)
19g.13298780C>GCA505784852CACNA1Ac.2853G>C (p.Ala951=)
c.2859G>C (p.Ala953=)
c.2856G>C (p.Ala952=)
c.2865G>C (p.Ala955=)
c.2715G>C (p.Ala905=)
c.3051G>C (p.Ala1017=)
19g.13298780C>TCA9240458CACNA1Ac.2853G>A (p.Ala951=)
c.2859G>A (p.Ala953=)
c.2856G>A (p.Ala952=)
c.2865G>A (p.Ala955=)
c.2715G>A (p.Ala905=)
c.3051G>A (p.Ala1017=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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.13298780_13298781insCGCGCCCGTGCA920063094CACNA1Ac.2852_2853insCACGGGCGCG (p.Asp952ThrfsTer?)
c.2858_2859insCACGGGCGCG (p.Asp954ThrfsTer?)
c.2855_2856insCACGGGCGCG (p.Asp953ThrfsTer?)
c.2864_2865insCACGGGCGCG (p.Asp956ThrfsTer?)
c.2714_2715insCACGGGCGCG (p.Asp906ThrfsTer?)
c.3050_3051insCACGGGCGCG (p.Asp1018ThrfsTer?)
 dbSNP
19g.13298781G>ACA404342588CACNA1Ac.2852C>T (p.Ala951Val)
c.2858C>T (p.Ala953Val)
c.2855C>T (p.Ala952Val)
c.2864C>T (p.Ala955Val)
c.2714C>T (p.Ala905Val)
c.3050C>T (p.Ala1017Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.13298781G>CCA404342589CACNA1Ac.2852C>G (p.Ala951Gly)
c.2858C>G (p.Ala953Gly)
c.2855C>G (p.Ala952Gly)
c.2864C>G (p.Ala955Gly)
c.2714C>G (p.Ala905Gly)
c.3050C>G (p.Ala1017Gly)
19g.13298781G=CA2323826047CACNA1Ac.2852C= (p.Ala951=)
c.2858C= (p.Ala953=)
c.2855C= (p.Ala952=)
c.2864C= (p.Ala955=)
c.2714C= (p.Ala905=)
c.3050C= (p.Ala1017=)
19g.13298781G>TCA404342590CACNA1Ac.2852C>A (p.Ala951Glu)
c.2858C>A (p.Ala953Glu)
c.2855C>A (p.Ala952Glu)
c.2864C>A (p.Ala955Glu)
c.2714C>A (p.Ala905Glu)
c.3050C>A (p.Ala1017Glu)
19g.13298782C>ACA404342591CACNA1Ac.2851G>T (p.Ala951Ser)
c.2857G>T (p.Ala953Ser)
c.2854G>T (p.Ala952Ser)
c.2863G>T (p.Ala955Ser)
c.2713G>T (p.Ala905Ser)
c.3049G>T (p.Ala1017Ser)
 gnomAD v4
19g.13298782C>GCA404342592CACNA1Ac.2851G>C (p.Ala951Pro)
c.2857G>C (p.Ala953Pro)
c.2854G>C (p.Ala952Pro)
c.2863G>C (p.Ala955Pro)
c.2713G>C (p.Ala905Pro)
c.3049G>C (p.Ala1017Pro)
19g.13298782C>TCA404342593CACNA1Ac.2851G>A (p.Ala951Thr)
c.2857G>A (p.Ala953Thr)
c.2854G>A (p.Ala952Thr)
c.2863G>A (p.Ala955Thr)
c.2713G>A (p.Ala905Thr)
c.3049G>A (p.Ala1017Thr)
 ClinVar gnomAD v4
19g.13298782_13298788delinsCGCCCGTCA2323826049CACNA1Ac.2845_2851delinsACGGGCG (p.Thr949=)
c.2851_2857delinsACGGGCG (p.Thr951=)
c.2848_2854delinsACGGGCG (p.Thr950=)
c.2857_2863delinsACGGGCG (p.Thr953=)
c.2707_2713delinsACGGGCG (p.Thr903=)
c.3043_3049delinsACGGGCG (p.Thr1015=)
19g.13298783G>ACA505784860CACNA1Ac.2850C>T (p.Gly950=)
c.2856C>T (p.Gly952=)
c.2853C>T (p.Gly951=)
c.2862C>T (p.Gly954=)
c.2712C>T (p.Gly904=)
c.3048C>T (p.Gly1016=)
 ClinVar dbSNP gnomAD v4
19g.13298783G>CCA505784861CACNA1Ac.2850C>G (p.Gly950=)
c.2856C>G (p.Gly952=)
c.2853C>G (p.Gly951=)
c.2862C>G (p.Gly954=)
c.2712C>G (p.Gly904=)
c.3048C>G (p.Gly1016=)
 gnomAD v4
19g.13298783G>TCA505784862CACNA1Ac.2850C>A (p.Gly950=)
c.2856C>A (p.Gly952=)
c.2853C>A (p.Gly951=)
c.2862C>A (p.Gly954=)
c.2712C>A (p.Gly904=)
c.3048C>A (p.Gly1016=)
 gnomAD v4
19g.13298785_13298790delCA632123093CACNA1Ac.2845_2850del (p.Thr949_Gly950del)
c.2851_2856del (p.Thr951_Gly952del)
c.2848_2853del (p.Thr950_Gly951del)
c.2857_2862del (p.Thr953_Gly954del)
c.2707_2712del (p.Thr903_Gly904del)
c.3043_3048del (p.Thr1015_Gly1016del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298784C>ACA404342595CACNA1Ac.2849G>T (p.Gly950Val)
c.2855G>T (p.Gly952Val)
c.2852G>T (p.Gly951Val)
c.2861G>T (p.Gly954Val)
c.2711G>T (p.Gly904Val)
c.3047G>T (p.Gly1016Val)
 gnomAD v4
19g.13298784C>GCA404342596CACNA1Ac.2849G>C (p.Gly950Ala)
c.2855G>C (p.Gly952Ala)
c.2852G>C (p.Gly951Ala)
c.2861G>C (p.Gly954Ala)
c.2711G>C (p.Gly904Ala)
c.3047G>C (p.Gly1016Ala)
19g.13298784C>TCA404342594CACNA1Ac.2849G>A (p.Gly950Asp)
c.2855G>A (p.Gly952Asp)
c.2852G>A (p.Gly951Asp)
c.2861G>A (p.Gly954Asp)
c.2711G>A (p.Gly904Asp)
c.3047G>A (p.Gly1016Asp)
 gnomAD v4
19g.13298785C>ACA404342597CACNA1Ac.2848G>T (p.Gly950Cys)
c.2854G>T (p.Gly952Cys)
c.2851G>T (p.Gly951Cys)
c.2860G>T (p.Gly954Cys)
c.2710G>T (p.Gly904Cys)
c.3046G>T (p.Gly1016Cys)
19g.13298785C>GCA404342598CACNA1Ac.2848G>C (p.Gly950Arg)
c.2854G>C (p.Gly952Arg)
c.2851G>C (p.Gly951Arg)
c.2860G>C (p.Gly954Arg)
c.2710G>C (p.Gly904Arg)
c.3046G>C (p.Gly1016Arg)
19g.13298785C>TCA404342599CACNA1Ac.2848G>A (p.Gly950Ser)
c.2854G>A (p.Gly952Ser)
c.2851G>A (p.Gly951Ser)
c.2860G>A (p.Gly954Ser)
c.2710G>A (p.Gly904Ser)
c.3046G>A (p.Gly1016Ser)
19g.13298786C>ACA505784865CACNA1Ac.2847G>T (p.Thr949=)
c.2853G>T (p.Thr951=)
c.2850G>T (p.Thr950=)
c.2859G>T (p.Thr953=)
c.2709G>T (p.Thr903=)
c.3045G>T (p.Thr1015=)
 gnomAD v4
19g.13298786C=CA2323826052CACNA1Ac.2847G= (p.Thr949=)
c.2853G= (p.Thr951=)
c.2850G= (p.Thr950=)
c.2859G= (p.Thr953=)
c.2709G= (p.Thr903=)
c.3045G= (p.Thr1015=)
19g.13298786C>GCA505784866CACNA1Ac.2847G>C (p.Thr949=)
c.2853G>C (p.Thr951=)
c.2850G>C (p.Thr950=)
c.2859G>C (p.Thr953=)
c.2709G>C (p.Thr903=)
c.3045G>C (p.Thr1015=)
 dbSNP gnomAD v2 gnomAD v4
19g.13298786C>TCA505784867CACNA1Ac.2847G>A (p.Thr949=)
c.2853G>A (p.Thr951=)
c.2850G>A (p.Thr950=)
c.2859G>A (p.Thr953=)
c.2709G>A (p.Thr903=)
c.3045G>A (p.Thr1015=)
 gnomAD v4
19g.13298787G>ACA404342600CACNA1Ac.2846C>T (p.Thr949Met)
c.2852C>T (p.Thr951Met)
c.2849C>T (p.Thr950Met)
c.2858C>T (p.Thr953Met)
c.2708C>T (p.Thr903Met)
c.3044C>T (p.Thr1015Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298787G>CCA404342601CACNA1Ac.2846C>G (p.Thr949Arg)
c.2852C>G (p.Thr951Arg)
c.2849C>G (p.Thr950Arg)
c.2858C>G (p.Thr953Arg)
c.2708C>G (p.Thr903Arg)
c.3044C>G (p.Thr1015Arg)
 ClinVar gnomAD v4
19g.13298787G=CA2323826053CACNA1Ac.2846C= (p.Thr949=)
c.2852C= (p.Thr951=)
c.2849C= (p.Thr950=)
c.2858C= (p.Thr953=)
c.2708C= (p.Thr903=)
c.3044C= (p.Thr1015=)
19g.13298787G>TCA404342602CACNA1Ac.2846C>A (p.Thr949Lys)
c.2852C>A (p.Thr951Lys)
c.2849C>A (p.Thr950Lys)
c.2858C>A (p.Thr953Lys)
c.2708C>A (p.Thr903Lys)
c.3044C>A (p.Thr1015Lys)
 gnomAD v4
19g.13298788T>ACA404342603CACNA1Ac.2845A>T (p.Thr949Ser)
c.2851A>T (p.Thr951Ser)
c.2848A>T (p.Thr950Ser)
c.2857A>T (p.Thr953Ser)
c.2707A>T (p.Thr903Ser)
c.3043A>T (p.Thr1015Ser)
19g.13298788T>CCA404342605CACNA1Ac.2845A>G (p.Thr949Ala)
c.2851A>G (p.Thr951Ala)
c.2848A>G (p.Thr950Ala)
c.2857A>G (p.Thr953Ala)
c.2707A>G (p.Thr903Ala)
c.3043A>G (p.Thr1015Ala)
 gnomAD v4
19g.13298788T>GCA404342604CACNA1Ac.2845A>C (p.Thr949Pro)
c.2851A>C (p.Thr951Pro)
c.2848A>C (p.Thr950Pro)
c.2857A>C (p.Thr953Pro)
c.2707A>C (p.Thr903Pro)
c.3043A>C (p.Thr1015Pro)
19g.13298789G>ACA505784870CACNA1Ac.2844C>T (p.Arg948=)
c.2850C>T (p.Arg950=)
c.2847C>T (p.Arg949=)
c.2856C>T (p.Arg952=)
c.2706C>T (p.Arg902=)
c.3042C>T (p.Arg1014=)
19g.13298789G>CCA9240459CACNA1Ac.2844C>G (p.Arg948=)
c.2850C>G (p.Arg950=)
c.2847C>G (p.Arg949=)
c.2856C>G (p.Arg952=)
c.2706C>G (p.Arg902=)
c.3042C>G (p.Arg1014=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13298789G=CA2323826056CACNA1Ac.2844C= (p.Arg948=)
c.2850C= (p.Arg950=)
c.2847C= (p.Arg949=)
c.2856C= (p.Arg952=)
c.2706C= (p.Arg902=)
c.3042C= (p.Arg1014=)
19g.13298789G>TCA505784872CACNA1Ac.2844C>A (p.Arg948=)
c.2850C>A (p.Arg950=)
c.2847C>A (p.Arg949=)
c.2856C>A (p.Arg952=)
c.2706C>A (p.Arg902=)
c.3042C>A (p.Arg1014=)
 gnomAD v4
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.13298790C>ACA404342606CACNA1Ac.2843G>T (p.Arg948Leu)
c.2849G>T (p.Arg950Leu)
c.2846G>T (p.Arg949Leu)
c.2855G>T (p.Arg952Leu)
c.2705G>T (p.Arg902Leu)
c.3041G>T (p.Arg1014Leu)
 ClinVar gnomAD v4
19g.13298790C=CA2323826058CACNA1Ac.2843G= (p.Arg948=)
c.2849G= (p.Arg950=)
c.2846G= (p.Arg949=)
c.2855G= (p.Arg952=)
c.2705G= (p.Arg902=)
c.3041G= (p.Arg1014=)
19g.13298790C>GCA404342607CACNA1Ac.2843G>C (p.Arg948Pro)
c.2849G>C (p.Arg950Pro)
c.2846G>C (p.Arg949Pro)
c.2855G>C (p.Arg952Pro)
c.2705G>C (p.Arg902Pro)
c.3041G>C (p.Arg1014Pro)
19g.13298790C>TCA404342608CACNA1Ac.2843G>A (p.Arg948His)
c.2849G>A (p.Arg950His)
c.2846G>A (p.Arg949His)
c.2855G>A (p.Arg952His)
c.2705G>A (p.Arg902His)
c.3041G>A (p.Arg1014His)
 dbSNP gnomAD v4
19g.13298791G>ACA305506260CACNA1Ac.2842C>T (p.Arg948Cys)
c.2848C>T (p.Arg950Cys)
c.2845C>T (p.Arg949Cys)
c.2854C>T (p.Arg952Cys)
c.2704C>T (p.Arg902Cys)
c.3040C>T (p.Arg1014Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13298791G>CCA404342609CACNA1Ac.2842C>G (p.Arg948Gly)
c.2848C>G (p.Arg950Gly)
c.2845C>G (p.Arg949Gly)
c.2854C>G (p.Arg952Gly)
c.2704C>G (p.Arg902Gly)
c.3040C>G (p.Arg1014Gly)
 gnomAD v4
19g.13298791G=CA2323826060CACNA1Ac.2842C= (p.Arg948=)
c.2848C= (p.Arg950=)
c.2845C= (p.Arg949=)
c.2854C= (p.Arg952=)
c.2704C= (p.Arg902=)
c.3040C= (p.Arg1014=)
19g.13298791G>TCA305506265CACNA1Ac.2842C>A (p.Arg948Ser)
c.2848C>A (p.Arg950Ser)
c.2845C>A (p.Arg949Ser)
c.2854C>A (p.Arg952Ser)
c.2704C>A (p.Arg902Ser)
c.3040C>A (p.Arg1014Ser)
 dbSNP gnomAD v4
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

Number of alleles fetched