| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13298668_13298694dup | CA2582833346 | CACNA1A | c.2947_2973dup (p.Gly991_Glu992insSerArgProAlaArgGlyGlyGluGly) c.2953_2979dup (p.Gly993_Glu994insSerArgProAlaArgGlyGlyGluGly) c.2950_2976dup (p.Gly992_Glu993insSerArgProAlaArgGlyGlyGluGly) c.2959_2985dup (p.Gly995_Glu996insSerArgProAlaArgGlyGlyGluGly) c.2809_2835dup (p.Gly945_Glu946insSerArgProAlaArgGlyGlyGluGly) c.3145_3171dup (p.Gly1057_Glu1058insSerArgProAlaArgGlyGlyGluGly) | gnomAD v4 |
| 19 | g.13298693_13298708dup | CA2582833349 | CACNA1A | c.2931_2946dup (p.Ser983AlafsTer?) c.2937_2952dup (p.Ser985AlafsTer?) c.2934_2949dup (p.Ser984AlafsTer?) c.2943_2958dup (p.Ser987AlafsTer?) c.2793_2808dup (p.Ser937AlafsTer?) c.3129_3144dup (p.Ser1049AlafsTer?) | gnomAD v4 |
| 19 | g.13298692C>A | CA404342400 | CACNA1A | c.2941G>T (p.Glu981Ter) c.2947G>T (p.Glu983Ter) c.2944G>T (p.Glu982Ter) c.2953G>T (p.Glu985Ter) c.2803G>T (p.Glu935Ter) c.3139G>T (p.Glu1047Ter) | gnomAD v4 |
| 19 | g.13298692C>G | CA404342401 | CACNA1A | c.2941G>C (p.Glu981Gln) c.2947G>C (p.Glu983Gln) c.2944G>C (p.Glu982Gln) c.2953G>C (p.Glu985Gln) c.2803G>C (p.Glu935Gln) c.3139G>C (p.Glu1047Gln) | |
| 19 | g.13298692C>T | CA404342402 | CACNA1A | c.2941G>A (p.Glu981Lys) c.2947G>A (p.Glu983Lys) c.2944G>A (p.Glu982Lys) c.2953G>A (p.Glu985Lys) c.2803G>A (p.Glu935Lys) c.3139G>A (p.Glu1047Lys) | ClinVar gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13298693G>A | CA505785276 | CACNA1A | c.2940C>T (p.Arg980=) c.2946C>T (p.Arg982=) c.2943C>T (p.Arg981=) c.2952C>T (p.Arg984=) c.2802C>T (p.Arg934=) c.3138C>T (p.Arg1046=) | gnomAD v4 |
| 19 | g.13298693G>C | CA505785277 | CACNA1A | c.2940C>G (p.Arg980=) c.2946C>G (p.Arg982=) c.2943C>G (p.Arg981=) c.2952C>G (p.Arg984=) c.2802C>G (p.Arg934=) c.3138C>G (p.Arg1046=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298693G= | CA2323825921 | CACNA1A | c.2940C= (p.Arg980=) c.2946C= (p.Arg982=) c.2943C= (p.Arg981=) c.2952C= (p.Arg984=) c.2802C= (p.Arg934=) c.3138C= (p.Arg1046=) | |
| 19 | g.13298693G>T | CA505785279 | CACNA1A | c.2940C>A (p.Arg980=) c.2946C>A (p.Arg982=) c.2943C>A (p.Arg981=) c.2952C>A (p.Arg984=) c.2802C>A (p.Arg934=) c.3138C>A (p.Arg1046=) | gnomAD v4 |
| 19 | g.13298694C>A | CA404342404 | CACNA1A | c.2939G>T (p.Arg980Leu) c.2945G>T (p.Arg982Leu) c.2942G>T (p.Arg981Leu) c.2951G>T (p.Arg984Leu) c.2801G>T (p.Arg934Leu) c.3137G>T (p.Arg1046Leu) | gnomAD v4 |
| 19 | g.13298694C= | CA2323825923 | CACNA1A | c.2939G= (p.Arg980=) c.2945G= (p.Arg982=) c.2942G= (p.Arg981=) c.2951G= (p.Arg984=) c.2801G= (p.Arg934=) c.3137G= (p.Arg1046=) | |
| 19 | g.13298694C>G | CA404342405 | CACNA1A | c.2939G>C (p.Arg980Pro) c.2945G>C (p.Arg982Pro) c.2942G>C (p.Arg981Pro) c.2951G>C (p.Arg984Pro) c.2801G>C (p.Arg934Pro) c.3137G>C (p.Arg1046Pro) | |
| 19 | g.13298694C>T | CA404342403 | CACNA1A | c.2939G>A (p.Arg980His) c.2945G>A (p.Arg982His) c.2942G>A (p.Arg981His) c.2951G>A (p.Arg984His) c.2801G>A (p.Arg934His) c.3137G>A (p.Arg1046His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298695G>A | CA404342406 | CACNA1A | c.2938C>T (p.Arg980Cys) c.2944C>T (p.Arg982Cys) c.2941C>T (p.Arg981Cys) c.2950C>T (p.Arg984Cys) c.2800C>T (p.Arg934Cys) c.3136C>T (p.Arg1046Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298695G>C | CA9240448 | CACNA1A | c.2938C>G (p.Arg980Gly) c.2944C>G (p.Arg982Gly) c.2941C>G (p.Arg981Gly) c.2950C>G (p.Arg984Gly) c.2800C>G (p.Arg934Gly) c.3136C>G (p.Arg1046Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13298695G= | CA2323825925 | CACNA1A | c.2938C= (p.Arg980=) c.2944C= (p.Arg982=) c.2941C= (p.Arg981=) c.2950C= (p.Arg984=) c.2800C= (p.Arg934=) c.3136C= (p.Arg1046=) | |
| 19 | g.13298695G>T | CA404342407 | CACNA1A | c.2938C>A (p.Arg980Ser) c.2944C>A (p.Arg982Ser) c.2941C>A (p.Arg981Ser) c.2950C>A (p.Arg984Ser) c.2800C>A (p.Arg934Ser) c.3136C>A (p.Arg1046Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298696_13298698dup | CA2573054730 | CACNA1A | c.2936_2938dup (p.His979_Arg980insHis) c.2942_2944dup (p.His981_Arg982insHis) c.2939_2941dup (p.His980_Arg981insHis) c.2948_2950dup (p.His983_Arg984insHis) c.2798_2800dup (p.His933_Arg934insHis) c.3134_3136dup (p.His1045_Arg1046insHis) | ClinVar dbSNP |
| 19 | g.13298696G>A | CA505785284 | CACNA1A | c.2937C>T (p.His979=) c.2943C>T (p.His981=) c.2940C>T (p.His980=) c.2949C>T (p.His983=) c.2799C>T (p.His933=) c.3135C>T (p.His1045=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13298696G>C | CA404342408 | CACNA1A | c.2937C>G (p.His979Gln) c.2943C>G (p.His981Gln) c.2940C>G (p.His980Gln) c.2949C>G (p.His983Gln) c.2799C>G (p.His933Gln) c.3135C>G (p.His1045Gln) | |
| 19 | g.13298696G= | CA2323825927 | CACNA1A | c.2937C= (p.His979=) c.2943C= (p.His981=) c.2940C= (p.His980=) c.2949C= (p.His983=) c.2799C= (p.His933=) c.3135C= (p.His1045=) | |
| 19 | g.13298696G>T | CA404342409 | CACNA1A | c.2937C>A (p.His979Gln) c.2943C>A (p.His981Gln) c.2940C>A (p.His980Gln) c.2949C>A (p.His983Gln) c.2799C>A (p.His933Gln) c.3135C>A (p.His1045Gln) | |
| 19 | g.13298697T>A | CA404342410 | CACNA1A | c.2936A>T (p.His979Leu) c.2942A>T (p.His981Leu) c.2939A>T (p.His980Leu) c.2948A>T (p.His983Leu) c.2798A>T (p.His933Leu) c.3134A>T (p.His1045Leu) | |
| 19 | g.13298697T>C | CA404342411 | CACNA1A | c.2936A>G (p.His979Arg) c.2942A>G (p.His981Arg) c.2939A>G (p.His980Arg) c.2948A>G (p.His983Arg) c.2798A>G (p.His933Arg) c.3134A>G (p.His1045Arg) | |
| 19 | g.13298697T>G | CA404342412 | CACNA1A | c.2936A>C (p.His979Pro) c.2942A>C (p.His981Pro) c.2939A>C (p.His980Pro) c.2948A>C (p.His983Pro) c.2798A>C (p.His933Pro) c.3134A>C (p.His1045Pro) | |
| 19 | g.13298698G>A | CA404342413 | CACNA1A | c.2935C>T (p.His979Tyr) c.2941C>T (p.His981Tyr) c.2938C>T (p.His980Tyr) c.2947C>T (p.His983Tyr) c.2797C>T (p.His933Tyr) c.3133C>T (p.His1045Tyr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13298698G>C | CA404342414 | CACNA1A | c.2935C>G (p.His979Asp) c.2941C>G (p.His981Asp) c.2938C>G (p.His980Asp) c.2947C>G (p.His983Asp) c.2797C>G (p.His933Asp) c.3133C>G (p.His1045Asp) | |
| 19 | g.13298698G= | CA2323825929 | CACNA1A | c.2935C= (p.His979=) c.2941C= (p.His981=) c.2938C= (p.His980=) c.2947C= (p.His983=) c.2797C= (p.His933=) c.3133C= (p.His1045=) | |
| 19 | g.13298698G>T | CA404342415 | CACNA1A | c.2935C>A (p.His979Asn) c.2941C>A (p.His981Asn) c.2938C>A (p.His980Asn) c.2947C>A (p.His983Asn) c.2797C>A (p.His933Asn) c.3133C>A (p.His1045Asn) | gnomAD v4 |
| 19 | g.13298698_13298699insGGCGCGGCA | CA2813658744 | CACNA1A | c.2934_2935insTGCCGCGCC (p.Arg978_His979insCysArgAla) c.2940_2941insTGCCGCGCC (p.Arg980_His981insCysArgAla) c.2937_2938insTGCCGCGCC (p.Arg979_His980insCysArgAla) c.2946_2947insTGCCGCGCC (p.Arg982_His983insCysArgAla) c.2796_2797insTGCCGCGCC (p.Arg932_His933insCysArgAla) c.3132_3133insTGCCGCGCC (p.Arg1044_His1045insCysArgAla) | |
| 19 | g.13298699C>A | CA505785291 | CACNA1A | c.2934G>T (p.Arg978=) c.2940G>T (p.Arg980=) c.2937G>T (p.Arg979=) c.2946G>T (p.Arg982=) c.2796G>T (p.Arg932=) c.3132G>T (p.Arg1044=) | dbSNP gnomAD v4 |
| 19 | g.13298699C= | CA2323825931 | CACNA1A | c.2934G= (p.Arg978=) c.2940G= (p.Arg980=) c.2937G= (p.Arg979=) c.2946G= (p.Arg982=) c.2796G= (p.Arg932=) c.3132G= (p.Arg1044=) | |
| 19 | g.13298699C>G | CA505785293 | CACNA1A | c.2934G>C (p.Arg978=) c.2940G>C (p.Arg980=) c.2937G>C (p.Arg979=) c.2946G>C (p.Arg982=) c.2796G>C (p.Arg932=) c.3132G>C (p.Arg1044=) | |
| 19 | g.13298699C>T | CA505785294 | CACNA1A | c.2934G>A (p.Arg978=) c.2940G>A (p.Arg980=) c.2937G>A (p.Arg979=) c.2946G>A (p.Arg982=) c.2796G>A (p.Arg932=) c.3132G>A (p.Arg1044=) | gnomAD v4 |
| 19 | g.13298700C>A | CA404342418 | CACNA1A | c.2933G>T (p.Arg978Leu) c.2939G>T (p.Arg980Leu) c.2936G>T (p.Arg979Leu) c.2945G>T (p.Arg982Leu) c.2795G>T (p.Arg932Leu) c.3131G>T (p.Arg1044Leu) | gnomAD v4 |
| 19 | g.13298700C= | CA2323825932 | CACNA1A | c.2933G= (p.Arg978=) c.2939G= (p.Arg980=) c.2936G= (p.Arg979=) c.2945G= (p.Arg982=) c.2795G= (p.Arg932=) c.3131G= (p.Arg1044=) | |
| 19 | g.13298700C>G | CA404342417 | CACNA1A | c.2933G>C (p.Arg978Pro) c.2939G>C (p.Arg980Pro) c.2936G>C (p.Arg979Pro) c.2945G>C (p.Arg982Pro) c.2795G>C (p.Arg932Pro) c.3131G>C (p.Arg1044Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13298700C>T | CA404342416 | CACNA1A | c.2933G>A (p.Arg978Gln) c.2939G>A (p.Arg980Gln) c.2936G>A (p.Arg979Gln) c.2945G>A (p.Arg982Gln) c.2795G>A (p.Arg932Gln) c.3131G>A (p.Arg1044Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13298701G>A | CA404342419 | CACNA1A | c.2932C>T (p.Arg978Trp) c.2938C>T (p.Arg980Trp) c.2935C>T (p.Arg979Trp) c.2944C>T (p.Arg982Trp) c.2794C>T (p.Arg932Trp) c.3130C>T (p.Arg1044Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298701G>C | CA404342420 | CACNA1A | c.2932C>G (p.Arg978Gly) c.2938C>G (p.Arg980Gly) c.2935C>G (p.Arg979Gly) c.2944C>G (p.Arg982Gly) c.2794C>G (p.Arg932Gly) c.3130C>G (p.Arg1044Gly) | gnomAD v4 |
| 19 | g.13298701G= | CA2323825933 | CACNA1A | c.2932C= (p.Arg978=) c.2938C= (p.Arg980=) c.2935C= (p.Arg979=) c.2944C= (p.Arg982=) c.2794C= (p.Arg932=) c.3130C= (p.Arg1044=) | |
| 19 | g.13298701G>T | CA505785298 | CACNA1A | c.2932C>A (p.Arg978=) c.2938C>A (p.Arg980=) c.2935C>A (p.Arg979=) c.2944C>A (p.Arg982=) c.2794C>A (p.Arg932=) c.3130C>A (p.Arg1044=) | gnomAD v4 |
| 19 | g.13298702del | CA2813658745 | CACNA1A | c.2931del (p.Arg978GlyfsTer?) c.2937del (p.Arg980GlyfsTer?) c.2934del (p.Arg979GlyfsTer?) c.2943del (p.Arg982GlyfsTer?) c.2793del (p.Arg932GlyfsTer?) c.3129del (p.Arg1044GlyfsTer?) | |
| 19 | g.13298702C>A | CA505785306 | CACNA1A | c.2931G>T (p.Ala977=) c.2937G>T (p.Ala979=) c.2934G>T (p.Ala978=) c.2943G>T (p.Ala981=) c.2793G>T (p.Ala931=) c.3129G>T (p.Ala1043=) | gnomAD v4 |
| 19 | g.13298702C>G | CA505785303 | CACNA1A | c.2931G>C (p.Ala977=) c.2937G>C (p.Ala979=) c.2934G>C (p.Ala978=) c.2943G>C (p.Ala981=) c.2793G>C (p.Ala931=) c.3129G>C (p.Ala1043=) | ClinVar |
| 19 | g.13298702C>T | CA505785308 | CACNA1A | c.2931G>A (p.Ala977=) c.2937G>A (p.Ala979=) c.2934G>A (p.Ala978=) c.2943G>A (p.Ala981=) c.2793G>A (p.Ala931=) c.3129G>A (p.Ala1043=) | gnomAD v4 |
| 19 | g.13298703G>A | CA404342421 | CACNA1A | c.2930C>T (p.Ala977Val) c.2936C>T (p.Ala979Val) c.2933C>T (p.Ala978Val) c.2942C>T (p.Ala981Val) c.2792C>T (p.Ala931Val) c.3128C>T (p.Ala1043Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298703G>C | CA404342422 | CACNA1A | c.2930C>G (p.Ala977Gly) c.2936C>G (p.Ala979Gly) c.2933C>G (p.Ala978Gly) c.2942C>G (p.Ala981Gly) c.2792C>G (p.Ala931Gly) c.3128C>G (p.Ala1043Gly) | gnomAD v4 |
| 19 | g.13298703G= | CA2323825934 | CACNA1A | c.2930C= (p.Ala977=) c.2936C= (p.Ala979=) c.2933C= (p.Ala978=) c.2942C= (p.Ala981=) c.2792C= (p.Ala931=) c.3128C= (p.Ala1043=) | |
| 19 | g.13298703G>T | CA404342423 | CACNA1A | c.2930C>A (p.Ala977Glu) c.2936C>A (p.Ala979Glu) c.2933C>A (p.Ala978Glu) c.2942C>A (p.Ala981Glu) c.2792C>A (p.Ala931Glu) c.3128C>A (p.Ala1043Glu) | gnomAD v4 |
| 19 | g.13298703_13298729delinsGCCCTCCGCTCCGCCTTGTCCTCCGGA | CA2323825935 | CACNA1A | c.2904_2930delinsTCCGGAGGACAAGGCGGAGCGGAGGGC (p.Gly968=) c.2910_2936delinsTCCGGAGGACAAGGCGGAGCGGAGGGC (p.Gly970=) c.2907_2933delinsTCCGGAGGACAAGGCGGAGCGGAGGGC (p.Gly969=) c.2916_2942delinsTCCGGAGGACAAGGCGGAGCGGAGGGC (p.Gly972=) c.2766_2792delinsTCCGGAGGACAAGGCGGAGCGGAGGGC (p.Gly922=) c.3102_3128delinsTCCGGAGGACAAGGCGGAGCGGAGGGC (p.Gly1034=) | |
| 19 | g.13298704C>A | CA404342424 | CACNA1A | c.2929G>T (p.Ala977Ser) c.2935G>T (p.Ala979Ser) c.2932G>T (p.Ala978Ser) c.2941G>T (p.Ala981Ser) c.2791G>T (p.Ala931Ser) c.3127G>T (p.Ala1043Ser) | gnomAD v4 |
| 19 | g.13298704C>G | CA404342425 | CACNA1A | c.2929G>C (p.Ala977Pro) c.2935G>C (p.Ala979Pro) c.2932G>C (p.Ala978Pro) c.2941G>C (p.Ala981Pro) c.2791G>C (p.Ala931Pro) c.3127G>C (p.Ala1043Pro) | |
| 19 | g.13298704C>T | CA404342426 | CACNA1A | c.2929G>A (p.Ala977Thr) c.2935G>A (p.Ala979Thr) c.2932G>A (p.Ala978Thr) c.2941G>A (p.Ala981Thr) c.2791G>A (p.Ala931Thr) c.3127G>A (p.Ala1043Thr) | |
| 19 | g.13298706del | CA2813658747 | CACNA1A | c.2929del (p.Ala977ArgfsTer?) c.2935del (p.Ala979ArgfsTer?) c.2932del (p.Ala978ArgfsTer?) c.2941del (p.Ala981ArgfsTer?) c.2791del (p.Ala931ArgfsTer?) c.3127del (p.Ala1043ArgfsTer?) | |
| 19 | g.13298706_13298714dup | CA2323825936 | CACNA1A | c.2921_2929dup (p.Arg976_Ala977insGluArgArg) c.2927_2935dup (p.Arg978_Ala979insGluArgArg) c.2924_2932dup (p.Arg977_Ala978insGluArgArg) c.2933_2941dup (p.Arg980_Ala981insGluArgArg) c.2783_2791dup (p.Arg930_Ala931insGluArgArg) c.3119_3127dup (p.Arg1042_Ala1043insGluArgArg) | dbSNP gnomAD v4 |
| 19 | g.13298710_13298735del | CA658658787 | CACNA1A | c.2904_2929del (p.Pro969AlafsTer?) c.2910_2935del (p.Pro971AlafsTer?) c.2907_2932del (p.Pro970AlafsTer?) c.2916_2941del (p.Pro973AlafsTer?) c.2766_2791del (p.Pro923AlafsTer?) c.3102_3127del (p.Pro1035AlafsTer?) | ClinVar dbSNP |
| 19 | g.13298705C>A | CA404342427 | CACNA1A | c.2928G>T (p.Arg976Ser) c.2934G>T (p.Arg978Ser) c.2931G>T (p.Arg977Ser) c.2940G>T (p.Arg980Ser) c.2790G>T (p.Arg930Ser) c.3126G>T (p.Arg1042Ser) | gnomAD v4 |
| 19 | g.13298705C>G | CA404342428 | CACNA1A | c.2928G>C (p.Arg976Ser) c.2934G>C (p.Arg978Ser) c.2931G>C (p.Arg977Ser) c.2940G>C (p.Arg980Ser) c.2790G>C (p.Arg930Ser) c.3126G>C (p.Arg1042Ser) | |
| 19 | g.13298705C>T | CA505785319 | CACNA1A | c.2928G>A (p.Arg976=) c.2934G>A (p.Arg978=) c.2931G>A (p.Arg977=) c.2940G>A (p.Arg980=) c.2790G>A (p.Arg930=) c.3126G>A (p.Arg1042=) | gnomAD v4 |
| 19 | g.13298706C>A | CA404342429 | CACNA1A | c.2927G>T (p.Arg976Met) c.2933G>T (p.Arg978Met) c.2930G>T (p.Arg977Met) c.2939G>T (p.Arg980Met) c.2789G>T (p.Arg930Met) c.3125G>T (p.Arg1042Met) | gnomAD v4 |
| 19 | g.13298706C>G | CA404342430 | CACNA1A | c.2927G>C (p.Arg976Thr) c.2933G>C (p.Arg978Thr) c.2930G>C (p.Arg977Thr) c.2939G>C (p.Arg980Thr) c.2789G>C (p.Arg930Thr) c.3125G>C (p.Arg1042Thr) | |
| 19 | g.13298706C>T | CA404342431 | CACNA1A | c.2927G>A (p.Arg976Lys) c.2933G>A (p.Arg978Lys) c.2930G>A (p.Arg977Lys) c.2939G>A (p.Arg980Lys) c.2789G>A (p.Arg930Lys) c.3125G>A (p.Arg1042Lys) | |
| 19 | g.13298707T>A | CA404342432 | CACNA1A | c.2926A>T (p.Arg976Trp) c.2932A>T (p.Arg978Trp) c.2929A>T (p.Arg977Trp) c.2938A>T (p.Arg980Trp) c.2788A>T (p.Arg930Trp) c.3124A>T (p.Arg1042Trp) | gnomAD v4 |
| 19 | g.13298707T>C | CA404342433 | CACNA1A | c.2926A>G (p.Arg976Gly) c.2932A>G (p.Arg978Gly) c.2929A>G (p.Arg977Gly) c.2938A>G (p.Arg980Gly) c.2788A>G (p.Arg930Gly) c.3124A>G (p.Arg1042Gly) | gnomAD v4 |
| 19 | g.13298707T>G | CA505785321 | CACNA1A | c.2926A>C (p.Arg976=) c.2932A>C (p.Arg978=) c.2929A>C (p.Arg977=) c.2938A>C (p.Arg980=) c.2788A>C (p.Arg930=) c.3124A>C (p.Arg1042=) | |
| 19 | g.13298708C>A | CA505785323 | CACNA1A | c.2925G>T (p.Arg975=) c.2931G>T (p.Arg977=) c.2928G>T (p.Arg976=) c.2937G>T (p.Arg979=) c.2787G>T (p.Arg929=) c.3123G>T (p.Arg1041=) | gnomAD v4 |
| 19 | g.13298708C>G | CA505785325 | CACNA1A | c.2925G>C (p.Arg975=) c.2931G>C (p.Arg977=) c.2928G>C (p.Arg976=) c.2937G>C (p.Arg979=) c.2787G>C (p.Arg929=) c.3123G>C (p.Arg1041=) | |
| 19 | g.13298708C>T | CA505785327 | CACNA1A | c.2925G>A (p.Arg975=) c.2931G>A (p.Arg977=) c.2928G>A (p.Arg976=) c.2937G>A (p.Arg979=) c.2787G>A (p.Arg929=) c.3123G>A (p.Arg1041=) | gnomAD v4 |
| 19 | g.13298709C>A | CA9240449 | CACNA1A | c.2924G>T (p.Arg975Leu) c.2930G>T (p.Arg977Leu) c.2927G>T (p.Arg976Leu) c.2936G>T (p.Arg979Leu) c.2786G>T (p.Arg929Leu) c.3122G>T (p.Arg1041Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298709C= | CA2323825939 | CACNA1A | c.2924G= (p.Arg975=) c.2930G= (p.Arg977=) c.2927G= (p.Arg976=) c.2936G= (p.Arg979=) c.2786G= (p.Arg929=) c.3122G= (p.Arg1041=) | |
| 19 | g.13298709C>G | CA404342435 | CACNA1A | c.2924G>C (p.Arg975Pro) c.2930G>C (p.Arg977Pro) c.2927G>C (p.Arg976Pro) c.2936G>C (p.Arg979Pro) c.2786G>C (p.Arg929Pro) c.3122G>C (p.Arg1041Pro) | COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13298709C>T | CA404342434 | CACNA1A | c.2924G>A (p.Arg975Gln) c.2930G>A (p.Arg977Gln) c.2927G>A (p.Arg976Gln) c.2936G>A (p.Arg979Gln) c.2786G>A (p.Arg929Gln) c.3122G>A (p.Arg1041Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13298710G>A | CA404342436 | CACNA1A | c.2923C>T (p.Arg975Trp) c.2929C>T (p.Arg977Trp) c.2926C>T (p.Arg976Trp) c.2935C>T (p.Arg979Trp) c.2785C>T (p.Arg929Trp) c.3121C>T (p.Arg1041Trp) | gnomAD v4 |
| 19 | g.13298710G>C | CA404342437 | CACNA1A | c.2923C>G (p.Arg975Gly) c.2929C>G (p.Arg977Gly) c.2926C>G (p.Arg976Gly) c.2935C>G (p.Arg979Gly) c.2785C>G (p.Arg929Gly) c.3121C>G (p.Arg1041Gly) | |
| 19 | g.13298710G>T | CA505785334 | CACNA1A | c.2923C>A (p.Arg975=) c.2929C>A (p.Arg977=) c.2926C>A (p.Arg976=) c.2935C>A (p.Arg979=) c.2785C>A (p.Arg929=) c.3121C>A (p.Arg1041=) | gnomAD v4 |
| 19 | g.13298711C>A | CA404342438 | CACNA1A | c.2922G>T (p.Glu974Asp) c.2928G>T (p.Glu976Asp) c.2925G>T (p.Glu975Asp) c.2934G>T (p.Glu978Asp) c.2784G>T (p.Glu928Asp) c.3120G>T (p.Glu1040Asp) | gnomAD v4 |
| 19 | g.13298711C= | CA2323825941 | CACNA1A | c.2922G= (p.Glu974=) c.2928G= (p.Glu976=) c.2925G= (p.Glu975=) c.2934G= (p.Glu978=) c.2784G= (p.Glu928=) c.3120G= (p.Glu1040=) | |
| 19 | g.13298711C>G | CA404342439 | CACNA1A | c.2922G>C (p.Glu974Asp) c.2928G>C (p.Glu976Asp) c.2925G>C (p.Glu975Asp) c.2934G>C (p.Glu978Asp) c.2784G>C (p.Glu928Asp) c.3120G>C (p.Glu1040Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298711C>T | CA505785336 | CACNA1A | c.2922G>A (p.Glu974=) c.2928G>A (p.Glu976=) c.2925G>A (p.Glu975=) c.2934G>A (p.Glu978=) c.2784G>A (p.Glu928=) c.3120G>A (p.Glu1040=) | ClinVar dbSNP |
| 19 | g.13298712_13298737dup | CA2573156118 | CACNA1A | c.2897_2922dup (p.Ala977ValfsTer?) c.2903_2928dup (p.Ala979ValfsTer?) c.2900_2925dup (p.Ala978ValfsTer?) c.2909_2934dup (p.Ala981ValfsTer?) c.2759_2784dup (p.Ala931ValfsTer?) c.3095_3120dup (p.Ala1043ValfsTer?) | ClinVar dbSNP |
| 19 | g.13298712T>A | CA404342440 | CACNA1A | c.2921A>T (p.Glu974Val) c.2927A>T (p.Glu976Val) c.2924A>T (p.Glu975Val) c.2933A>T (p.Glu978Val) c.2783A>T (p.Glu928Val) c.3119A>T (p.Glu1040Val) | gnomAD v4 |
| 19 | g.13298712T>C | CA404342441 | CACNA1A | c.2921A>G (p.Glu974Gly) c.2927A>G (p.Glu976Gly) c.2924A>G (p.Glu975Gly) c.2933A>G (p.Glu978Gly) c.2783A>G (p.Glu928Gly) c.3119A>G (p.Glu1040Gly) | ClinVar gnomAD v4 |
| 19 | g.13298712T>G | CA404342442 | CACNA1A | c.2921A>C (p.Glu974Ala) c.2927A>C (p.Glu976Ala) c.2924A>C (p.Glu975Ala) c.2933A>C (p.Glu978Ala) c.2783A>C (p.Glu928Ala) c.3119A>C (p.Glu1040Ala) | |
| 19 | g.13298713C>A | CA404342443 | CACNA1A | c.2920G>T (p.Glu974Ter) c.2926G>T (p.Glu976Ter) c.2923G>T (p.Glu975Ter) c.2932G>T (p.Glu978Ter) c.2782G>T (p.Glu928Ter) c.3118G>T (p.Glu1040Ter) | gnomAD v4 |
| 19 | g.13298713C>G | CA404342444 | CACNA1A | c.2920G>C (p.Glu974Gln) c.2926G>C (p.Glu976Gln) c.2923G>C (p.Glu975Gln) c.2932G>C (p.Glu978Gln) c.2782G>C (p.Glu928Gln) c.3118G>C (p.Glu1040Gln) | |
| 19 | g.13298713C>T | CA404342445 | CACNA1A | c.2920G>A (p.Glu974Lys) c.2926G>A (p.Glu976Lys) c.2923G>A (p.Glu975Lys) c.2932G>A (p.Glu978Lys) c.2782G>A (p.Glu928Lys) c.3118G>A (p.Glu1040Lys) | gnomAD v4 |
| 19 | g.13298714C>A | CA505785348 | CACNA1A | c.2919G>T (p.Ala973=) c.2925G>T (p.Ala975=) c.2922G>T (p.Ala974=) c.2931G>T (p.Ala977=) c.2781G>T (p.Ala927=) c.3117G>T (p.Ala1039=) | gnomAD v4 |
| 19 | g.13298714C= | CA2323825944 | CACNA1A | c.2919G= (p.Ala973=) c.2925G= (p.Ala975=) c.2922G= (p.Ala974=) c.2931G= (p.Ala977=) c.2781G= (p.Ala927=) c.3117G= (p.Ala1039=) | |
| 19 | g.13298714C>G | CA505785353 | CACNA1A | c.2919G>C (p.Ala973=) c.2925G>C (p.Ala975=) c.2922G>C (p.Ala974=) c.2931G>C (p.Ala977=) c.2781G>C (p.Ala927=) c.3117G>C (p.Ala1039=) | |
| 19 | g.13298714C>T | CA505785356 | CACNA1A | c.2919G>A (p.Ala973=) c.2925G>A (p.Ala975=) c.2922G>A (p.Ala974=) c.2931G>A (p.Ala977=) c.2781G>A (p.Ala927=) c.3117G>A (p.Ala1039=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298715G>A | CA404342446 | CACNA1A | c.2918C>T (p.Ala973Val) c.2924C>T (p.Ala975Val) c.2921C>T (p.Ala974Val) c.2930C>T (p.Ala977Val) c.2780C>T (p.Ala927Val) c.3116C>T (p.Ala1039Val) | dbSNP gnomAD v4 |
| 19 | g.13298715G>C | CA404342447 | CACNA1A | c.2918C>G (p.Ala973Gly) c.2924C>G (p.Ala975Gly) c.2921C>G (p.Ala974Gly) c.2930C>G (p.Ala977Gly) c.2780C>G (p.Ala927Gly) c.3116C>G (p.Ala1039Gly) | |
| 19 | g.13298715G>T | CA404342448 | CACNA1A | c.2918C>A (p.Ala973Glu) c.2924C>A (p.Ala975Glu) c.2921C>A (p.Ala974Glu) c.2930C>A (p.Ala977Glu) c.2780C>A (p.Ala927Glu) c.3116C>A (p.Ala1039Glu) | gnomAD v4 |
| 19 | g.13298716C>A | CA404342451 | CACNA1A | c.2917G>T (p.Ala973Ser) c.2923G>T (p.Ala975Ser) c.2920G>T (p.Ala974Ser) c.2929G>T (p.Ala977Ser) c.2779G>T (p.Ala927Ser) c.3115G>T (p.Ala1039Ser) | dbSNP gnomAD v4 |
| 19 | g.13298716C>G | CA404342450 | CACNA1A | c.2917G>C (p.Ala973Pro) c.2923G>C (p.Ala975Pro) c.2920G>C (p.Ala974Pro) c.2929G>C (p.Ala977Pro) c.2779G>C (p.Ala927Pro) c.3115G>C (p.Ala1039Pro) | |
| 19 | g.13298716C>T | CA404342449 | CACNA1A | c.2917G>A (p.Ala973Thr) c.2923G>A (p.Ala975Thr) c.2920G>A (p.Ala974Thr) c.2929G>A (p.Ala977Thr) c.2779G>A (p.Ala927Thr) c.3115G>A (p.Ala1039Thr) | gnomAD v4 |
| 19 | g.13298717C>A | CA404342452 | CACNA1A | c.2916G>T (p.Lys972Asn) c.2922G>T (p.Lys974Asn) c.2919G>T (p.Lys973Asn) c.2928G>T (p.Lys976Asn) c.2778G>T (p.Lys926Asn) c.3114G>T (p.Lys1038Asn) | gnomAD v4 |
| 19 | g.13298717C>G | CA404342453 | CACNA1A | c.2916G>C (p.Lys972Asn) c.2922G>C (p.Lys974Asn) c.2919G>C (p.Lys973Asn) c.2928G>C (p.Lys976Asn) c.2778G>C (p.Lys926Asn) c.3114G>C (p.Lys1038Asn) | gnomAD v4 |
| 19 | g.13298717C>T | CA505785363 | CACNA1A | c.2916G>A (p.Lys972=) c.2922G>A (p.Lys974=) c.2919G>A (p.Lys973=) c.2928G>A (p.Lys976=) c.2778G>A (p.Lys926=) c.3114G>A (p.Lys1038=) | |
| 19 | g.13298718T>A | CA404342454 | CACNA1A | c.2915A>T (p.Lys972Met) c.2921A>T (p.Lys974Met) c.2918A>T (p.Lys973Met) c.2927A>T (p.Lys976Met) c.2777A>T (p.Lys926Met) c.3113A>T (p.Lys1038Met) | gnomAD v4 |
| 19 | g.13298718T>C | CA404342455 | CACNA1A | c.2915A>G (p.Lys972Arg) c.2921A>G (p.Lys974Arg) c.2918A>G (p.Lys973Arg) c.2927A>G (p.Lys976Arg) c.2777A>G (p.Lys926Arg) c.3113A>G (p.Lys1038Arg) | ClinVar gnomAD v4 |
| 19 | g.13298718T>G | CA404342456 | CACNA1A | c.2915A>C (p.Lys972Thr) c.2921A>C (p.Lys974Thr) c.2918A>C (p.Lys973Thr) c.2927A>C (p.Lys976Thr) c.2777A>C (p.Lys926Thr) c.3113A>C (p.Lys1038Thr) | gnomAD v4 |
| 19 | g.13298719T>A | CA404342457 | CACNA1A | c.2914A>T (p.Lys972Ter) c.2920A>T (p.Lys974Ter) c.2917A>T (p.Lys973Ter) c.2926A>T (p.Lys976Ter) c.2776A>T (p.Lys926Ter) c.3112A>T (p.Lys1038Ter) | COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13298719T>C | CA404342458 | CACNA1A | c.2914A>G (p.Lys972Glu) c.2920A>G (p.Lys974Glu) c.2917A>G (p.Lys973Glu) c.2926A>G (p.Lys976Glu) c.2776A>G (p.Lys926Glu) c.3112A>G (p.Lys1038Glu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13298719T>G | CA404342459 | CACNA1A | c.2914A>C (p.Lys972Gln) c.2920A>C (p.Lys974Gln) c.2917A>C (p.Lys973Gln) c.2926A>C (p.Lys976Gln) c.2776A>C (p.Lys926Gln) c.3112A>C (p.Lys1038Gln) | |
| 19 | g.13298720G>A | CA505785372 | CACNA1A | c.2913C>T (p.Asp971=) c.2919C>T (p.Asp973=) c.2916C>T (p.Asp972=) c.2925C>T (p.Asp975=) c.2775C>T (p.Asp925=) c.3111C>T (p.Asp1037=) | |
| 19 | g.13298720G>C | CA404342460 | CACNA1A | c.2913C>G (p.Asp971Glu) c.2919C>G (p.Asp973Glu) c.2916C>G (p.Asp972Glu) c.2925C>G (p.Asp975Glu) c.2775C>G (p.Asp925Glu) c.3111C>G (p.Asp1037Glu) | |
| 19 | g.13298720G>T | CA404342461 | CACNA1A | c.2913C>A (p.Asp971Glu) c.2919C>A (p.Asp973Glu) c.2916C>A (p.Asp972Glu) c.2925C>A (p.Asp975Glu) c.2775C>A (p.Asp925Glu) c.3111C>A (p.Asp1037Glu) | gnomAD v4 |
| 19 | g.13298721T>A | CA404342462 | CACNA1A | c.2912A>T (p.Asp971Val) c.2918A>T (p.Asp973Val) c.2915A>T (p.Asp972Val) c.2924A>T (p.Asp975Val) c.2774A>T (p.Asp925Val) c.3110A>T (p.Asp1037Val) | |
| 19 | g.13298721T>C | CA404342463 | CACNA1A | c.2912A>G (p.Asp971Gly) c.2918A>G (p.Asp973Gly) c.2915A>G (p.Asp972Gly) c.2924A>G (p.Asp975Gly) c.2774A>G (p.Asp925Gly) c.3110A>G (p.Asp1037Gly) | gnomAD v4 |
| 19 | g.13298721T>G | CA404342464 | CACNA1A | c.2912A>C (p.Asp971Ala) c.2918A>C (p.Asp973Ala) c.2915A>C (p.Asp972Ala) c.2924A>C (p.Asp975Ala) c.2774A>C (p.Asp925Ala) c.3110A>C (p.Asp1037Ala) | |
| 19 | g.13298722C>A | CA404342466 | CACNA1A | c.2911G>T (p.Asp971Tyr) c.2917G>T (p.Asp973Tyr) c.2914G>T (p.Asp972Tyr) c.2923G>T (p.Asp975Tyr) c.2773G>T (p.Asp925Tyr) c.3109G>T (p.Asp1037Tyr) | gnomAD v4 |
| 19 | g.13298722C>G | CA404342467 | CACNA1A | c.2911G>C (p.Asp971His) c.2917G>C (p.Asp973His) c.2914G>C (p.Asp972His) c.2923G>C (p.Asp975His) c.2773G>C (p.Asp925His) c.3109G>C (p.Asp1037His) | |
| 19 | g.13298722C>T | CA404342465 | CACNA1A | c.2911G>A (p.Asp971Asn) c.2917G>A (p.Asp973Asn) c.2914G>A (p.Asp972Asn) c.2923G>A (p.Asp975Asn) c.2773G>A (p.Asp925Asn) c.3109G>A (p.Asp1037Asn) | gnomAD v4 |
| 19 | g.13298723del | CA2497028706 | CACNA1A | c.2911del (p.Asp971ThrfsTer?) c.2917del (p.Asp973ThrfsTer?) c.2914del (p.Asp972ThrfsTer?) c.2923del (p.Asp975ThrfsTer?) c.2773del (p.Asp925ThrfsTer?) c.3109del (p.Asp1037ThrfsTer?) | |
| 19 | g.13298723C>A | CA404342468 | CACNA1A | c.2910G>T (p.Glu970Asp) c.2916G>T (p.Glu972Asp) c.2913G>T (p.Glu971Asp) c.2922G>T (p.Glu974Asp) c.2772G>T (p.Glu924Asp) c.3108G>T (p.Glu1036Asp) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13298723C>G | CA404342469 | CACNA1A | c.2910G>C (p.Glu970Asp) c.2916G>C (p.Glu972Asp) c.2913G>C (p.Glu971Asp) c.2922G>C (p.Glu974Asp) c.2772G>C (p.Glu924Asp) c.3108G>C (p.Glu1036Asp) | |
| 19 | g.13298723C>T | CA505785378 | CACNA1A | c.2910G>A (p.Glu970=) c.2916G>A (p.Glu972=) c.2913G>A (p.Glu971=) c.2922G>A (p.Glu974=) c.2772G>A (p.Glu924=) c.3108G>A (p.Glu1036=) | |
| 19 | g.13298724T>A | CA404342470 | CACNA1A | c.2909A>T (p.Glu970Val) c.2915A>T (p.Glu972Val) c.2912A>T (p.Glu971Val) c.2921A>T (p.Glu974Val) c.2771A>T (p.Glu924Val) c.3107A>T (p.Glu1036Val) | |
| 19 | g.13298724T>C | CA404342471 | CACNA1A | c.2909A>G (p.Glu970Gly) c.2915A>G (p.Glu972Gly) c.2912A>G (p.Glu971Gly) c.2921A>G (p.Glu974Gly) c.2771A>G (p.Glu924Gly) c.3107A>G (p.Glu1036Gly) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13298724T>G | CA404342472 | CACNA1A | c.2909A>C (p.Glu970Ala) c.2915A>C (p.Glu972Ala) c.2912A>C (p.Glu971Ala) c.2921A>C (p.Glu974Ala) c.2771A>C (p.Glu924Ala) c.3107A>C (p.Glu1036Ala) | |
| 19 | g.13298724T= | CA2323825948 | CACNA1A | c.2909A= (p.Glu970=) c.2915A= (p.Glu972=) c.2912A= (p.Glu971=) c.2921A= (p.Glu974=) c.2771A= (p.Glu924=) c.3107A= (p.Glu1036=) | |
| 19 | g.13298725C>A | CA404342473 | CACNA1A | c.2908G>T (p.Glu970Ter) c.2914G>T (p.Glu972Ter) c.2911G>T (p.Glu971Ter) c.2920G>T (p.Glu974Ter) c.2770G>T (p.Glu924Ter) c.3106G>T (p.Glu1036Ter) | gnomAD v4 |
| 19 | g.13298725C= | CA2323825949 | CACNA1A | c.2908G= (p.Glu970=) c.2914G= (p.Glu972=) c.2911G= (p.Glu971=) c.2920G= (p.Glu974=) c.2770G= (p.Glu924=) c.3106G= (p.Glu1036=) | |
| 19 | g.13298725C>G | CA404342474 | CACNA1A | c.2908G>C (p.Glu970Gln) c.2914G>C (p.Glu972Gln) c.2911G>C (p.Glu971Gln) c.2920G>C (p.Glu974Gln) c.2770G>C (p.Glu924Gln) c.3106G>C (p.Glu1036Gln) | |
| 19 | g.13298725C>T | CA404342475 | CACNA1A | c.2908G>A (p.Glu970Lys) c.2914G>A (p.Glu972Lys) c.2911G>A (p.Glu971Lys) c.2920G>A (p.Glu974Lys) c.2770G>A (p.Glu924Lys) c.3106G>A (p.Glu1036Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298726C>A | CA505785393 | CACNA1A | c.2907G>T (p.Pro969=) c.2913G>T (p.Pro971=) c.2910G>T (p.Pro970=) c.2919G>T (p.Pro973=) c.2769G>T (p.Pro923=) c.3105G>T (p.Pro1035=) | gnomAD v4 |
| 19 | g.13298726C= | CA2323825951 | CACNA1A | c.2907G= (p.Pro969=) c.2913G= (p.Pro971=) c.2910G= (p.Pro970=) c.2919G= (p.Pro973=) c.2769G= (p.Pro923=) c.3105G= (p.Pro1035=) | |
| 19 | g.13298726C>G | CA505785389 | CACNA1A | c.2907G>C (p.Pro969=) c.2913G>C (p.Pro971=) c.2910G>C (p.Pro970=) c.2919G>C (p.Pro973=) c.2769G>C (p.Pro923=) c.3105G>C (p.Pro1035=) | gnomAD v4 |
| 19 | g.13298726C>T | CA9240450 | CACNA1A | c.2907G>A (p.Pro969=) c.2913G>A (p.Pro971=) c.2910G>A (p.Pro970=) c.2919G>A (p.Pro973=) c.2769G>A (p.Pro923=) c.3105G>A (p.Pro1035=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298727G>A | CA404342476 | CACNA1A | c.2906C>T (p.Pro969Leu) c.2912C>T (p.Pro971Leu) c.2909C>T (p.Pro970Leu) c.2918C>T (p.Pro973Leu) c.2768C>T (p.Pro923Leu) c.3104C>T (p.Pro1035Leu) | gnomAD v4 |
| 19 | g.13298727G>C | CA404342477 | CACNA1A | c.2906C>G (p.Pro969Arg) c.2912C>G (p.Pro971Arg) c.2909C>G (p.Pro970Arg) c.2918C>G (p.Pro973Arg) c.2768C>G (p.Pro923Arg) c.3104C>G (p.Pro1035Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298727G= | CA2323825954 | CACNA1A | c.2906C= (p.Pro969=) c.2912C= (p.Pro971=) c.2909C= (p.Pro970=) c.2918C= (p.Pro973=) c.2768C= (p.Pro923=) c.3104C= (p.Pro1035=) | |
| 19 | g.13298727G>T | CA404342478 | CACNA1A | c.2906C>A (p.Pro969Gln) c.2912C>A (p.Pro971Gln) c.2909C>A (p.Pro970Gln) c.2918C>A (p.Pro973Gln) c.2768C>A (p.Pro923Gln) c.3104C>A (p.Pro1035Gln) | gnomAD v4 |
| 19 | g.13298728G>A | CA404342480 | CACNA1A | c.2905C>T (p.Pro969Ser) c.2911C>T (p.Pro971Ser) c.2908C>T (p.Pro970Ser) c.2917C>T (p.Pro973Ser) c.2767C>T (p.Pro923Ser) c.3103C>T (p.Pro1035Ser) | gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13298728G>C | CA9240451 | CACNA1A | c.2905C>G (p.Pro969Ala) c.2911C>G (p.Pro971Ala) c.2908C>G (p.Pro970Ala) c.2917C>G (p.Pro973Ala) c.2767C>G (p.Pro923Ala) c.3103C>G (p.Pro1035Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298728G= | CA2323825956 | CACNA1A | c.2905C= (p.Pro969=) c.2911C= (p.Pro971=) c.2908C= (p.Pro970=) c.2917C= (p.Pro973=) c.2767C= (p.Pro923=) c.3103C= (p.Pro1035=) | |
| 19 | g.13298728G>T | CA404342479 | CACNA1A | c.2905C>A (p.Pro969Thr) c.2911C>A (p.Pro971Thr) c.2908C>A (p.Pro970Thr) c.2917C>A (p.Pro973Thr) c.2767C>A (p.Pro923Thr) c.3103C>A (p.Pro1035Thr) | |
| 19 | g.13298729A= | CA2323825960 | CACNA1A | c.2904T= (p.Gly968=) c.2910T= (p.Gly970=) c.2907T= (p.Gly969=) c.2916T= (p.Gly972=) c.2766T= (p.Gly922=) c.3102T= (p.Gly1034=) | |
| 19 | g.13298729A>C | CA505785400 | CACNA1A | c.2904T>G (p.Gly968=) c.2910T>G (p.Gly970=) c.2907T>G (p.Gly969=) c.2916T>G (p.Gly972=) c.2766T>G (p.Gly922=) c.3102T>G (p.Gly1034=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13298729A>G | CA505785404 | CACNA1A | c.2904T>C (p.Gly968=) c.2910T>C (p.Gly970=) c.2907T>C (p.Gly969=) c.2916T>C (p.Gly972=) c.2766T>C (p.Gly922=) c.3102T>C (p.Gly1034=) | gnomAD v4 |
| 19 | g.13298729A>T | CA505785401 | CACNA1A | c.2904T>A (p.Gly968=) c.2910T>A (p.Gly970=) c.2907T>A (p.Gly969=) c.2916T>A (p.Gly972=) c.2766T>A (p.Gly922=) c.3102T>A (p.Gly1034=) | |
| 19 | g.13298729_13298730delinsAC | CA2323825958 | CACNA1A | c.2903_2904delinsGT (p.Gly968=) c.2909_2910delinsGT (p.Gly970=) c.2906_2907delinsGT (p.Gly969=) c.2915_2916delinsGT (p.Gly972=) c.2765_2766delinsGT (p.Gly922=) c.3101_3102delinsGT (p.Gly1034=) | |
| 19 | g.13298730C>A | CA404342481 | CACNA1A | c.2903G>T (p.Gly968Val) c.2909G>T (p.Gly970Val) c.2906G>T (p.Gly969Val) c.2915G>T (p.Gly972Val) c.2765G>T (p.Gly922Val) c.3101G>T (p.Gly1034Val) | gnomAD v4 |
| 19 | g.13298730C= | CA2323825962 | CACNA1A | c.2903G= (p.Gly968=) c.2909G= (p.Gly970=) c.2906G= (p.Gly969=) c.2915G= (p.Gly972=) c.2765G= (p.Gly922=) c.3101G= (p.Gly1034=) | |
| 19 | g.13298730C>G | CA404342482 | CACNA1A | c.2903G>C (p.Gly968Ala) c.2909G>C (p.Gly970Ala) c.2906G>C (p.Gly969Ala) c.2915G>C (p.Gly972Ala) c.2765G>C (p.Gly922Ala) c.3101G>C (p.Gly1034Ala) | gnomAD v4 |
| 19 | g.13298730C>T | CA404342483 | CACNA1A | c.2903G>A (p.Gly968Asp) c.2909G>A (p.Gly970Asp) c.2906G>A (p.Gly969Asp) c.2915G>A (p.Gly972Asp) c.2765G>A (p.Gly922Asp) c.3101G>A (p.Gly1034Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13298732del | CA658799157 | CACNA1A | c.2903del (p.Gly968ValfsTer?) c.2909del (p.Gly970ValfsTer?) c.2906del (p.Gly969ValfsTer?) c.2915del (p.Gly972ValfsTer?) c.2765del (p.Gly922ValfsTer?) c.3101del (p.Gly1034ValfsTer?) | ClinVar dbSNP |
| 19 | g.13298731C>A | CA404342484 | CACNA1A | c.2902G>T (p.Gly968Cys) c.2908G>T (p.Gly970Cys) c.2905G>T (p.Gly969Cys) c.2914G>T (p.Gly972Cys) c.2764G>T (p.Gly922Cys) c.3100G>T (p.Gly1034Cys) | gnomAD v4 |
| 19 | g.13298731C>G | CA404342485 | CACNA1A | c.2902G>C (p.Gly968Arg) c.2908G>C (p.Gly970Arg) c.2905G>C (p.Gly969Arg) c.2914G>C (p.Gly972Arg) c.2764G>C (p.Gly922Arg) c.3100G>C (p.Gly1034Arg) | |
| 19 | g.13298731C>T | CA404342486 | CACNA1A | c.2902G>A (p.Gly968Ser) c.2908G>A (p.Gly970Ser) c.2905G>A (p.Gly969Ser) c.2914G>A (p.Gly972Ser) c.2764G>A (p.Gly922Ser) c.3100G>A (p.Gly1034Ser) | |
| 19 | g.13298736_13298738dup | CA920063088 | CACNA1A | c.2900_2902dup (p.Glu967_Gly968insGlu) c.2906_2908dup (p.Glu969_Gly970insGlu) c.2903_2905dup (p.Glu968_Gly969insGlu) c.2912_2914dup (p.Glu971_Gly972insGlu) c.2762_2764dup (p.Glu921_Gly922insGlu) c.3098_3100dup (p.Glu1033_Gly1034insGlu) | dbSNP |
| 19 | g.13298732C>A | CA404342487 | CACNA1A | c.2901G>T (p.Glu967Asp) c.2907G>T (p.Glu969Asp) c.2904G>T (p.Glu968Asp) c.2913G>T (p.Glu971Asp) c.2763G>T (p.Glu921Asp) c.3099G>T (p.Glu1033Asp) | gnomAD v4 |
| 19 | g.13298732C>G | CA404342488 | CACNA1A | c.2901G>C (p.Glu967Asp) c.2907G>C (p.Glu969Asp) c.2904G>C (p.Glu968Asp) c.2913G>C (p.Glu971Asp) c.2763G>C (p.Glu921Asp) c.3099G>C (p.Glu1033Asp) | |
| 19 | g.13298732C>T | CA505785421 | CACNA1A | c.2901G>A (p.Glu967=) c.2907G>A (p.Glu969=) c.2904G>A (p.Glu968=) c.2913G>A (p.Glu971=) c.2763G>A (p.Glu921=) c.3099G>A (p.Glu1033=) | |
| 19 | g.13298733T>A | CA404342489 | CACNA1A | c.2900A>T (p.Glu967Val) c.2906A>T (p.Glu969Val) c.2903A>T (p.Glu968Val) c.2912A>T (p.Glu971Val) c.2762A>T (p.Glu921Val) c.3098A>T (p.Glu1033Val) | dbSNP gnomAD v4 |
| 19 | g.13298733T>C | CA404342490 | CACNA1A | c.2900A>G (p.Glu967Gly) c.2906A>G (p.Glu969Gly) c.2903A>G (p.Glu968Gly) c.2912A>G (p.Glu971Gly) c.2762A>G (p.Glu921Gly) c.3098A>G (p.Glu1033Gly) | gnomAD v4 |
| 19 | g.13298733T>G | CA404342491 | CACNA1A | c.2900A>C (p.Glu967Ala) c.2906A>C (p.Glu969Ala) c.2903A>C (p.Glu968Ala) c.2912A>C (p.Glu971Ala) c.2762A>C (p.Glu921Ala) c.3098A>C (p.Glu1033Ala) | |
| 19 | g.13298733T= | CA2323825964 | CACNA1A | c.2900A= (p.Glu967=) c.2906A= (p.Glu969=) c.2903A= (p.Glu968=) c.2912A= (p.Glu971=) c.2762A= (p.Glu921=) c.3098A= (p.Glu1033=) | |
| 19 | g.13298733_13298734delinsAA | CA2573156119 | CACNA1A | c.2899_2900delinsTT (p.Glu967Leu) c.2905_2906delinsTT (p.Glu969Leu) c.2902_2903delinsTT (p.Glu968Leu) c.2911_2912delinsTT (p.Glu971Leu) c.2761_2762delinsTT (p.Glu921Leu) c.3097_3098delinsTT (p.Glu1033Leu) | ClinVar dbSNP |
| 19 | g.13298734C>A | CA404342494 | CACNA1A | c.2899G>T (p.Glu967Ter) c.2905G>T (p.Glu969Ter) c.2902G>T (p.Glu968Ter) c.2911G>T (p.Glu971Ter) c.2761G>T (p.Glu921Ter) c.3097G>T (p.Glu1033Ter) | ClinVar dbSNP |
| 19 | g.13298734C= | CA2323825966 | CACNA1A | c.2899G= (p.Glu967=) c.2905G= (p.Glu969=) c.2902G= (p.Glu968=) c.2911G= (p.Glu971=) c.2761G= (p.Glu921=) c.3097G= (p.Glu1033=) | |
| 19 | g.13298734C>G | CA404342493 | CACNA1A | c.2899G>C (p.Glu967Gln) c.2905G>C (p.Glu969Gln) c.2902G>C (p.Glu968Gln) c.2911G>C (p.Glu971Gln) c.2761G>C (p.Glu921Gln) c.3097G>C (p.Glu1033Gln) | |
| 19 | g.13298734C>T | CA404342492 | CACNA1A | c.2899G>A (p.Glu967Lys) c.2905G>A (p.Glu969Lys) c.2902G>A (p.Glu968Lys) c.2911G>A (p.Glu971Lys) c.2761G>A (p.Glu921Lys) c.3097G>A (p.Glu1033Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298735C>A | CA404342495 | CACNA1A | c.2898G>T (p.Glu966Asp) c.2904G>T (p.Glu968Asp) c.2901G>T (p.Glu967Asp) c.2910G>T (p.Glu970Asp) c.2760G>T (p.Glu920Asp) c.3096G>T (p.Glu1032Asp) | gnomAD v4 |
| 19 | g.13298735C>G | CA404342496 | CACNA1A | c.2898G>C (p.Glu966Asp) c.2904G>C (p.Glu968Asp) c.2901G>C (p.Glu967Asp) c.2910G>C (p.Glu970Asp) c.2760G>C (p.Glu920Asp) c.3096G>C (p.Glu1032Asp) | |
| 19 | g.13298735C>T | CA505785429 | CACNA1A | c.2898G>A (p.Glu966=) c.2904G>A (p.Glu968=) c.2901G>A (p.Glu967=) c.2910G>A (p.Glu970=) c.2760G>A (p.Glu920=) c.3096G>A (p.Glu1032=) | ClinVar |
| 19 | g.13298736T>A | CA404342497 | CACNA1A | c.2897A>T (p.Glu966Val) c.2903A>T (p.Glu968Val) c.2900A>T (p.Glu967Val) c.2909A>T (p.Glu970Val) c.2759A>T (p.Glu920Val) c.3095A>T (p.Glu1032Val) | |
| 19 | g.13298736T>C | CA404342498 | CACNA1A | c.2897A>G (p.Glu966Gly) c.2903A>G (p.Glu968Gly) c.2900A>G (p.Glu967Gly) c.2909A>G (p.Glu970Gly) c.2759A>G (p.Glu920Gly) c.3095A>G (p.Glu1032Gly) | gnomAD v4 |
| 19 | g.13298736T>G | CA404342499 | CACNA1A | c.2897A>C (p.Glu966Ala) c.2903A>C (p.Glu968Ala) c.2900A>C (p.Glu967Ala) c.2909A>C (p.Glu970Ala) c.2759A>C (p.Glu920Ala) c.3095A>C (p.Glu1032Ala) | |
| 19 | g.13298736_13298737delinsTC | CA2323825968 | CACNA1A | c.2896_2897delinsGA (p.Glu966=) c.2902_2903delinsGA (p.Glu968=) c.2899_2900delinsGA (p.Glu967=) c.2908_2909delinsGA (p.Glu970=) c.2758_2759delinsGA (p.Glu920=) c.3094_3095delinsGA (p.Glu1032=) | |
| 19 | g.13298737C>A | CA404342500 | CACNA1A | c.2896G>T (p.Glu966Ter) c.2902G>T (p.Glu968Ter) c.2899G>T (p.Glu967Ter) c.2908G>T (p.Glu970Ter) c.2758G>T (p.Glu920Ter) c.3094G>T (p.Glu1032Ter) | |
| 19 | g.13298737C= | CA2323825971 | CACNA1A | c.2896G= (p.Glu966=) c.2902G= (p.Glu968=) c.2899G= (p.Glu967=) c.2908G= (p.Glu970=) c.2758G= (p.Glu920=) c.3094G= (p.Glu1032=) | |
| 19 | g.13298737C>G | CA404342501 | CACNA1A | c.2896G>C (p.Glu966Gln) c.2902G>C (p.Glu968Gln) c.2899G>C (p.Glu967Gln) c.2908G>C (p.Glu970Gln) c.2758G>C (p.Glu920Gln) c.3094G>C (p.Glu1032Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13298737C>T | CA9240452 | CACNA1A | c.2896G>A (p.Glu966Lys) c.2902G>A (p.Glu968Lys) c.2899G>A (p.Glu967Lys) c.2908G>A (p.Glu970Lys) c.2758G>A (p.Glu920Lys) c.3094G>A (p.Glu1032Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298737_13298738delinsTT | CA645607847 | CACNA1A | c.2895_2896delinsAA (p.Glu966Lys) c.2901_2902delinsAA (p.Glu968Lys) c.2898_2899delinsAA (p.Glu967Lys) c.2907_2908delinsAA (p.Glu970Lys) c.2757_2758delinsAA (p.Glu920Lys) c.3093_3094delinsAA (p.Glu1032Lys) | COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13298740del | CA632123092 | CACNA1A | c.2896del (p.Glu966ArgfsTer?) c.2902del (p.Glu968ArgfsTer?) c.2899del (p.Glu967ArgfsTer?) c.2908del (p.Glu970ArgfsTer?) c.2758del (p.Glu920ArgfsTer?) c.3094del (p.Glu1032ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298738C>A | CA505784781 | CACNA1A | c.2895G>T (p.Gly965=) c.2901G>T (p.Gly967=) c.2898G>T (p.Gly966=) c.2907G>T (p.Gly969=) c.2757G>T (p.Gly919=) c.3093G>T (p.Gly1031=) | |
| 19 | g.13298738C= | CA2323825979 | CACNA1A | c.2895G= (p.Gly965=) c.2901G= (p.Gly967=) c.2898G= (p.Gly966=) c.2907G= (p.Gly969=) c.2757G= (p.Gly919=) c.3093G= (p.Gly1031=) | |
| 19 | g.13298738C>G | CA16607732 | CACNA1A | c.2895G>C (p.Gly965=) c.2901G>C (p.Gly967=) c.2898G>C (p.Gly966=) c.2907G>C (p.Gly969=) c.2757G>C (p.Gly919=) c.3093G>C (p.Gly1031=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298738C>T | CA505784782 | CACNA1A | c.2895G>A (p.Gly965=) c.2901G>A (p.Gly967=) c.2898G>A (p.Gly966=) c.2907G>A (p.Gly969=) c.2757G>A (p.Gly919=) c.3093G>A (p.Gly1031=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13298739C>A | CA404342504 | CACNA1A | c.2894G>T (p.Gly965Val) c.2900G>T (p.Gly967Val) c.2897G>T (p.Gly966Val) c.2906G>T (p.Gly969Val) c.2756G>T (p.Gly919Val) c.3092G>T (p.Gly1031Val) | gnomAD v4 |
| 19 | g.13298739C>G | CA404342502 | CACNA1A | c.2894G>C (p.Gly965Ala) c.2900G>C (p.Gly967Ala) c.2897G>C (p.Gly966Ala) c.2906G>C (p.Gly969Ala) c.2756G>C (p.Gly919Ala) c.3092G>C (p.Gly1031Ala) | |
| 19 | g.13298739C>T | CA404342503 | CACNA1A | c.2894G>A (p.Gly965Glu) c.2900G>A (p.Gly967Glu) c.2897G>A (p.Gly966Glu) c.2906G>A (p.Gly969Glu) c.2756G>A (p.Gly919Glu) c.3092G>A (p.Gly1031Glu) | ClinVar |
| 19 | g.13298740C>A | CA404342505 | CACNA1A | c.2893G>T (p.Gly965Trp) c.2899G>T (p.Gly967Trp) c.2896G>T (p.Gly966Trp) c.2905G>T (p.Gly969Trp) c.2755G>T (p.Gly919Trp) c.3091G>T (p.Gly1031Trp) | gnomAD v4 |
| 19 | g.13298740C= | CA2323825980 | CACNA1A | c.2893G= (p.Gly965=) c.2899G= (p.Gly967=) c.2896G= (p.Gly966=) c.2905G= (p.Gly969=) c.2755G= (p.Gly919=) c.3091G= (p.Gly1031=) | |
| 19 | g.13298740C>G | CA404342506 | CACNA1A | c.2893G>C (p.Gly965Arg) c.2899G>C (p.Gly967Arg) c.2896G>C (p.Gly966Arg) c.2905G>C (p.Gly969Arg) c.2755G>C (p.Gly919Arg) c.3091G>C (p.Gly1031Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13298740C>T | CA404342507 | CACNA1A | c.2893G>A (p.Gly965Arg) c.2899G>A (p.Gly967Arg) c.2896G>A (p.Gly966Arg) c.2905G>A (p.Gly969Arg) c.2755G>A (p.Gly919Arg) c.3091G>A (p.Gly1031Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298741G>A | CA505784783 | CACNA1A | c.2892C>T (p.Pro964=) c.2898C>T (p.Pro966=) c.2895C>T (p.Pro965=) c.2904C>T (p.Pro968=) c.2754C>T (p.Pro918=) c.3090C>T (p.Pro1030=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13298741G>C | CA9240454 | CACNA1A | c.2892C>G (p.Pro964=) c.2898C>G (p.Pro966=) c.2895C>G (p.Pro965=) c.2904C>G (p.Pro968=) c.2754C>G (p.Pro918=) c.3090C>G (p.Pro1030=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298741G= | CA2323825981 | CACNA1A | c.2892C= (p.Pro964=) c.2898C= (p.Pro966=) c.2895C= (p.Pro965=) c.2904C= (p.Pro968=) c.2754C= (p.Pro918=) c.3090C= (p.Pro1030=) | |
| 19 | g.13298741G>T | CA9240453 | CACNA1A | c.2892C>A (p.Pro964=) c.2898C>A (p.Pro966=) c.2895C>A (p.Pro965=) c.2904C>A (p.Pro968=) c.2754C>A (p.Pro918=) c.3090C>A (p.Pro1030=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13298742G>A | CA404342508 | CACNA1A | c.2891C>T (p.Pro964Leu) c.2897C>T (p.Pro966Leu) c.2894C>T (p.Pro965Leu) c.2903C>T (p.Pro968Leu) c.2753C>T (p.Pro918Leu) c.3089C>T (p.Pro1030Leu) | gnomAD v4 |
| 19 | g.13298742G>C | CA404342510 | CACNA1A | c.2891C>G (p.Pro964Arg) c.2897C>G (p.Pro966Arg) c.2894C>G (p.Pro965Arg) c.2903C>G (p.Pro968Arg) c.2753C>G (p.Pro918Arg) c.3089C>G (p.Pro1030Arg) | dbSNP |
| 19 | g.13298742G= | CA2323825982 | CACNA1A | c.2891C= (p.Pro964=) c.2897C= (p.Pro966=) c.2894C= (p.Pro965=) c.2903C= (p.Pro968=) c.2753C= (p.Pro918=) c.3089C= (p.Pro1030=) | |
| 19 | g.13298742G>T | CA404342509 | CACNA1A | c.2891C>A (p.Pro964His) c.2897C>A (p.Pro966His) c.2894C>A (p.Pro965His) c.2903C>A (p.Pro968His) c.2753C>A (p.Pro918His) c.3089C>A (p.Pro1030His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298743G>A | CA404342511 | CACNA1A | c.2890C>T (p.Pro964Ser) c.2896C>T (p.Pro966Ser) c.2893C>T (p.Pro965Ser) c.2902C>T (p.Pro968Ser) c.2752C>T (p.Pro918Ser) c.3088C>T (p.Pro1030Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298743G>C | CA404342512 | CACNA1A | c.2890C>G (p.Pro964Ala) c.2896C>G (p.Pro966Ala) c.2893C>G (p.Pro965Ala) c.2902C>G (p.Pro968Ala) c.2752C>G (p.Pro918Ala) c.3088C>G (p.Pro1030Ala) | gnomAD v4 |
| 19 | g.13298743G= | CA2323825985 | CACNA1A | c.2890C= (p.Pro964=) c.2896C= (p.Pro966=) c.2893C= (p.Pro965=) c.2902C= (p.Pro968=) c.2752C= (p.Pro918=) c.3088C= (p.Pro1030=) | |
| 19 | g.13298743G>T | CA404342513 | CACNA1A | c.2890C>A (p.Pro964Thr) c.2896C>A (p.Pro966Thr) c.2893C>A (p.Pro965Thr) c.2902C>A (p.Pro968Thr) c.2752C>A (p.Pro918Thr) c.3088C>A (p.Pro1030Thr) | gnomAD v4 |
| 19 | g.13298744C>A | CA404342514 | CACNA1A | c.2889G>T (p.Arg963Ser) c.2895G>T (p.Arg965Ser) c.2892G>T (p.Arg964Ser) c.2901G>T (p.Arg967Ser) c.2751G>T (p.Arg917Ser) c.3087G>T (p.Arg1029Ser) | gnomAD v4 |
| 19 | g.13298744C= | CA2323825987 | CACNA1A | c.2889G= (p.Arg963=) c.2895G= (p.Arg965=) c.2892G= (p.Arg964=) c.2901G= (p.Arg967=) c.2751G= (p.Arg917=) c.3087G= (p.Arg1029=) | |
| 19 | g.13298744C>G | CA404342515 | CACNA1A | c.2889G>C (p.Arg963Ser) c.2895G>C (p.Arg965Ser) c.2892G>C (p.Arg964Ser) c.2901G>C (p.Arg967Ser) c.2751G>C (p.Arg917Ser) c.3087G>C (p.Arg1029Ser) | gnomAD v4 |
| 19 | g.13298744C>T | CA505784786 | CACNA1A | c.2889G>A (p.Arg963=) c.2895G>A (p.Arg965=) c.2892G>A (p.Arg964=) c.2901G>A (p.Arg967=) c.2751G>A (p.Arg917=) c.3087G>A (p.Arg1029=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298745C>A | CA404342516 | CACNA1A | c.2888G>T (p.Arg963Met) c.2894G>T (p.Arg965Met) c.2891G>T (p.Arg964Met) c.2900G>T (p.Arg967Met) c.2750G>T (p.Arg917Met) c.3086G>T (p.Arg1029Met) | |
| 19 | g.13298745C>G | CA404342517 | CACNA1A | c.2888G>C (p.Arg963Thr) c.2894G>C (p.Arg965Thr) c.2891G>C (p.Arg964Thr) c.2900G>C (p.Arg967Thr) c.2750G>C (p.Arg917Thr) c.3086G>C (p.Arg1029Thr) | gnomAD v4 |
| 19 | g.13298745C>T | CA404342518 | CACNA1A | c.2888G>A (p.Arg963Lys) c.2894G>A (p.Arg965Lys) c.2891G>A (p.Arg964Lys) c.2900G>A (p.Arg967Lys) c.2750G>A (p.Arg917Lys) c.3086G>A (p.Arg1029Lys) | |
| 19 | g.13298746T>A | CA404342519 | CACNA1A | c.2887A>T (p.Arg963Trp) c.2893A>T (p.Arg965Trp) c.2890A>T (p.Arg964Trp) c.2899A>T (p.Arg967Trp) c.2749A>T (p.Arg917Trp) c.3085A>T (p.Arg1029Trp) | gnomAD v4 |
| 19 | g.13298746T>C | CA404342520 | CACNA1A | c.2887A>G (p.Arg963Gly) c.2893A>G (p.Arg965Gly) c.2890A>G (p.Arg964Gly) c.2899A>G (p.Arg967Gly) c.2749A>G (p.Arg917Gly) c.3085A>G (p.Arg1029Gly) | |
| 19 | g.13298746T>G | CA505784789 | CACNA1A | c.2887A>C (p.Arg963=) c.2893A>C (p.Arg965=) c.2890A>C (p.Arg964=) c.2899A>C (p.Arg967=) c.2749A>C (p.Arg917=) c.3085A>C (p.Arg1029=) | ClinVar dbSNP |
| 19 | g.13298746T= | CA2323825989 | CACNA1A | c.2887A= (p.Arg963=) c.2893A= (p.Arg965=) c.2890A= (p.Arg964=) c.2899A= (p.Arg967=) c.2749A= (p.Arg917=) c.3085A= (p.Arg1029=) | |
| 19 | g.13298747G>A | CA505784790 | CACNA1A | c.2886C>T (p.Arg962=) c.2892C>T (p.Arg964=) c.2889C>T (p.Arg963=) c.2898C>T (p.Arg966=) c.2748C>T (p.Arg916=) c.3084C>T (p.Arg1028=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298747G>C | CA505784791 | CACNA1A | c.2886C>G (p.Arg962=) c.2892C>G (p.Arg964=) c.2889C>G (p.Arg963=) c.2898C>G (p.Arg966=) c.2748C>G (p.Arg916=) c.3084C>G (p.Arg1028=) | |
| 19 | g.13298747G= | CA2323825991 | CACNA1A | c.2886C= (p.Arg962=) c.2892C= (p.Arg964=) c.2889C= (p.Arg963=) c.2898C= (p.Arg966=) c.2748C= (p.Arg916=) c.3084C= (p.Arg1028=) | |
| 19 | g.13298747G>T | CA505784792 | CACNA1A | c.2886C>A (p.Arg962=) c.2892C>A (p.Arg964=) c.2889C>A (p.Arg963=) c.2898C>A (p.Arg966=) c.2748C>A (p.Arg916=) c.3084C>A (p.Arg1028=) | gnomAD v4 |
| 19 | g.13298748C>A | CA404342523 | CACNA1A | c.2885G>T (p.Arg962Leu) c.2891G>T (p.Arg964Leu) c.2888G>T (p.Arg963Leu) c.2897G>T (p.Arg966Leu) c.2747G>T (p.Arg916Leu) c.3083G>T (p.Arg1028Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13298748C= | CA2323825993 | CACNA1A | c.2885G= (p.Arg962=) c.2891G= (p.Arg964=) c.2888G= (p.Arg963=) c.2897G= (p.Arg966=) c.2747G= (p.Arg916=) c.3083G= (p.Arg1028=) | |
| 19 | g.13298748C>G | CA404342522 | CACNA1A | c.2885G>C (p.Arg962Pro) c.2891G>C (p.Arg964Pro) c.2888G>C (p.Arg963Pro) c.2897G>C (p.Arg966Pro) c.2747G>C (p.Arg916Pro) c.3083G>C (p.Arg1028Pro) | |
| 19 | g.13298748C>T | CA404342521 | CACNA1A | c.2885G>A (p.Arg962His) c.2891G>A (p.Arg964His) c.2888G>A (p.Arg963His) c.2897G>A (p.Arg966His) c.2747G>A (p.Arg916His) c.3083G>A (p.Arg1028His) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13298749G>A | CA305506231 | CACNA1A | c.2884C>T (p.Arg962Cys) c.2890C>T (p.Arg964Cys) c.2887C>T (p.Arg963Cys) c.2896C>T (p.Arg966Cys) c.2746C>T (p.Arg916Cys) c.3082C>T (p.Arg1028Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298749G>C | CA404342524 | CACNA1A | c.2884C>G (p.Arg962Gly) c.2890C>G (p.Arg964Gly) c.2887C>G (p.Arg963Gly) c.2896C>G (p.Arg966Gly) c.2746C>G (p.Arg916Gly) c.3082C>G (p.Arg1028Gly) | gnomAD v4 |
| 19 | g.13298749G= | CA2323825995 | CACNA1A | c.2884C= (p.Arg962=) c.2890C= (p.Arg964=) c.2887C= (p.Arg963=) c.2896C= (p.Arg966=) c.2746C= (p.Arg916=) c.3082C= (p.Arg1028=) | |
| 19 | g.13298749G>T | CA404342525 | CACNA1A | c.2884C>A (p.Arg962Ser) c.2890C>A (p.Arg964Ser) c.2887C>A (p.Arg963Ser) c.2896C>A (p.Arg966Ser) c.2746C>A (p.Arg916Ser) c.3082C>A (p.Arg1028Ser) | gnomAD v4 |
| 19 | g.13298750G>A | CA505784794 | CACNA1A | c.2883C>T (p.His961=) c.2889C>T (p.His963=) c.2886C>T (p.His962=) c.2895C>T (p.His965=) c.2745C>T (p.His915=) c.3081C>T (p.His1027=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298750G>C | CA404342526 | CACNA1A | c.2883C>G (p.His961Gln) c.2889C>G (p.His963Gln) c.2886C>G (p.His962Gln) c.2895C>G (p.His965Gln) c.2745C>G (p.His915Gln) c.3081C>G (p.His1027Gln) | |
| 19 | g.13298750G= | CA2323826002 | CACNA1A | c.2883C= (p.His961=) c.2889C= (p.His963=) c.2886C= (p.His962=) c.2895C= (p.His965=) c.2745C= (p.His915=) c.3081C= (p.His1027=) | |
| 19 | g.13298750G>T | CA404342527 | CACNA1A | c.2883C>A (p.His961Gln) c.2889C>A (p.His963Gln) c.2886C>A (p.His962Gln) c.2895C>A (p.His965Gln) c.2745C>A (p.His915Gln) c.3081C>A (p.His1027Gln) | gnomAD v4 |
| 19 | g.13298751T>A | CA404342530 | CACNA1A | c.2882A>T (p.His961Leu) c.2888A>T (p.His963Leu) c.2885A>T (p.His962Leu) c.2894A>T (p.His965Leu) c.2744A>T (p.His915Leu) c.3080A>T (p.His1027Leu) | gnomAD v4 |
| 19 | g.13298751T>C | CA404342529 | CACNA1A | c.2882A>G (p.His961Arg) c.2888A>G (p.His963Arg) c.2885A>G (p.His962Arg) c.2894A>G (p.His965Arg) c.2744A>G (p.His915Arg) c.3080A>G (p.His1027Arg) | |
| 19 | g.13298751T>G | CA404342528 | CACNA1A | c.2882A>C (p.His961Pro) c.2888A>C (p.His963Pro) c.2885A>C (p.His962Pro) c.2894A>C (p.His965Pro) c.2744A>C (p.His915Pro) c.3080A>C (p.His1027Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298751T= | CA2323826004 | CACNA1A | c.2882A= (p.His961=) c.2888A= (p.His963=) c.2885A= (p.His962=) c.2894A= (p.His965=) c.2744A= (p.His915=) c.3080A= (p.His1027=) | |
| 19 | g.13298752G>A | CA404342531 | CACNA1A | c.2881C>T (p.His961Tyr) c.2887C>T (p.His963Tyr) c.2884C>T (p.His962Tyr) c.2893C>T (p.His965Tyr) c.2743C>T (p.His915Tyr) c.3079C>T (p.His1027Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298752G>C | CA404342532 | CACNA1A | c.2881C>G (p.His961Asp) c.2887C>G (p.His963Asp) c.2884C>G (p.His962Asp) c.2893C>G (p.His965Asp) c.2743C>G (p.His915Asp) c.3079C>G (p.His1027Asp) | dbSNP |
| 19 | g.13298752G= | CA2323826007 | CACNA1A | c.2881C= (p.His961=) c.2887C= (p.His963=) c.2884C= (p.His962=) c.2893C= (p.His965=) c.2743C= (p.His915=) c.3079C= (p.His1027=) | |
| 19 | g.13298752G>T | CA404342533 | CACNA1A | c.2881C>A (p.His961Asn) c.2887C>A (p.His963Asn) c.2884C>A (p.His962Asn) c.2893C>A (p.His965Asn) c.2743C>A (p.His915Asn) c.3079C>A (p.His1027Asn) | |
| 19 | g.13298753C>A | CA505784798 | CACNA1A | c.2880G>T (p.Ala960=) c.2886G>T (p.Ala962=) c.2883G>T (p.Ala961=) c.2892G>T (p.Ala964=) c.2742G>T (p.Ala914=) c.3078G>T (p.Ala1026=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13298753C= | CA2323826009 | CACNA1A | c.2880G= (p.Ala960=) c.2886G= (p.Ala962=) c.2883G= (p.Ala961=) c.2892G= (p.Ala964=) c.2742G= (p.Ala914=) c.3078G= (p.Ala1026=) | |
| 19 | g.13298753C>G | CA505784799 | CACNA1A | c.2880G>C (p.Ala960=) c.2886G>C (p.Ala962=) c.2883G>C (p.Ala961=) c.2892G>C (p.Ala964=) c.2742G>C (p.Ala914=) c.3078G>C (p.Ala1026=) | |
| 19 | g.13298753C>T | CA505784800 | CACNA1A | c.2880G>A (p.Ala960=) c.2886G>A (p.Ala962=) c.2883G>A (p.Ala961=) c.2892G>A (p.Ala964=) c.2742G>A (p.Ala914=) c.3078G>A (p.Ala1026=) | gnomAD v4 |
| 19 | g.13298754G>A | CA9240455 | CACNA1A | c.2879C>T (p.Ala960Val) c.2885C>T (p.Ala962Val) c.2882C>T (p.Ala961Val) c.2891C>T (p.Ala964Val) c.2741C>T (p.Ala914Val) c.3077C>T (p.Ala1026Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13298754G>C | CA404342534 | CACNA1A | c.2879C>G (p.Ala960Gly) c.2885C>G (p.Ala962Gly) c.2882C>G (p.Ala961Gly) c.2891C>G (p.Ala964Gly) c.2741C>G (p.Ala914Gly) c.3077C>G (p.Ala1026Gly) | |
| 19 | g.13298754G= | CA2323826011 | CACNA1A | c.2879C= (p.Ala960=) c.2885C= (p.Ala962=) c.2882C= (p.Ala961=) c.2891C= (p.Ala964=) c.2741C= (p.Ala914=) c.3077C= (p.Ala1026=) | |
| 19 | g.13298754G>T | CA404342535 | CACNA1A | c.2879C>A (p.Ala960Glu) c.2885C>A (p.Ala962Glu) c.2882C>A (p.Ala961Glu) c.2891C>A (p.Ala964Glu) c.2741C>A (p.Ala914Glu) c.3077C>A (p.Ala1026Glu) | |
| 19 | g.13298755C>A | CA404342536 | CACNA1A | c.2878G>T (p.Ala960Ser) c.2884G>T (p.Ala962Ser) c.2881G>T (p.Ala961Ser) c.2890G>T (p.Ala964Ser) c.2740G>T (p.Ala914Ser) c.3076G>T (p.Ala1026Ser) | |
| 19 | g.13298755C>G | CA404342538 | CACNA1A | c.2878G>C (p.Ala960Pro) c.2884G>C (p.Ala962Pro) c.2881G>C (p.Ala961Pro) c.2890G>C (p.Ala964Pro) c.2740G>C (p.Ala914Pro) c.3076G>C (p.Ala1026Pro) | |
| 19 | g.13298755C>T | CA404342537 | CACNA1A | c.2878G>A (p.Ala960Thr) c.2884G>A (p.Ala962Thr) c.2881G>A (p.Ala961Thr) c.2890G>A (p.Ala964Thr) c.2740G>A (p.Ala914Thr) c.3076G>A (p.Ala1026Thr) | gnomAD v4 |
| 19 | g.13298756G>A | CA505784802 | CACNA1A | c.2877C>T (p.Arg959=) c.2883C>T (p.Arg961=) c.2880C>T (p.Arg960=) c.2889C>T (p.Arg963=) c.2739C>T (p.Arg913=) c.3075C>T (p.Arg1025=) | gnomAD v4 |
| 19 | g.13298756G>C | CA505784804 | CACNA1A | c.2877C>G (p.Arg959=) c.2883C>G (p.Arg961=) c.2880C>G (p.Arg960=) c.2889C>G (p.Arg963=) c.2739C>G (p.Arg913=) c.3075C>G (p.Arg1025=) | |
| 19 | g.13298756G>T | CA505784803 | CACNA1A | c.2877C>A (p.Arg959=) c.2883C>A (p.Arg961=) c.2880C>A (p.Arg960=) c.2889C>A (p.Arg963=) c.2739C>A (p.Arg913=) c.3075C>A (p.Arg1025=) | ClinVar gnomAD v4 |
| 19 | g.13298757C>A | CA404342539 | CACNA1A | c.2876G>T (p.Arg959Leu) c.2882G>T (p.Arg961Leu) c.2879G>T (p.Arg960Leu) c.2888G>T (p.Arg963Leu) c.2738G>T (p.Arg913Leu) c.3074G>T (p.Arg1025Leu) | gnomAD v4 |
| 19 | g.13298757C>G | CA404342540 | CACNA1A | c.2876G>C (p.Arg959Pro) c.2882G>C (p.Arg961Pro) c.2879G>C (p.Arg960Pro) c.2888G>C (p.Arg963Pro) c.2738G>C (p.Arg913Pro) c.3074G>C (p.Arg1025Pro) | |
| 19 | g.13298757C>T | CA404342541 | CACNA1A | c.2876G>A (p.Arg959His) c.2882G>A (p.Arg961His) c.2879G>A (p.Arg960His) c.2888G>A (p.Arg963His) c.2738G>A (p.Arg913His) c.3074G>A (p.Arg1025His) | gnomAD v4 |
| 19 | g.13298758G>A | CA404342542 | CACNA1A | c.2875C>T (p.Arg959Cys) c.2881C>T (p.Arg961Cys) c.2878C>T (p.Arg960Cys) c.2887C>T (p.Arg963Cys) c.2737C>T (p.Arg913Cys) c.3073C>T (p.Arg1025Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13298758G>C | CA404342543 | CACNA1A | c.2875C>G (p.Arg959Gly) c.2881C>G (p.Arg961Gly) c.2878C>G (p.Arg960Gly) c.2887C>G (p.Arg963Gly) c.2737C>G (p.Arg913Gly) c.3073C>G (p.Arg1025Gly) | |
| 19 | g.13298758G>T | CA404342544 | CACNA1A | c.2875C>A (p.Arg959Ser) c.2881C>A (p.Arg961Ser) c.2878C>A (p.Arg960Ser) c.2887C>A (p.Arg963Ser) c.2737C>A (p.Arg913Ser) c.3073C>A (p.Arg1025Ser) | ClinVar gnomAD v4 |
| 19 | g.13298759A>C | CA404342545 | CACNA1A | c.2874T>G (p.His958Gln) c.2880T>G (p.His960Gln) c.2877T>G (p.His959Gln) c.2886T>G (p.His962Gln) c.2736T>G (p.His912Gln) c.3072T>G (p.His1024Gln) | |
| 19 | g.13298759A>G | CA505784806 | CACNA1A | c.2874T>C (p.His958=) c.2880T>C (p.His960=) c.2877T>C (p.His959=) c.2886T>C (p.His962=) c.2736T>C (p.His912=) c.3072T>C (p.His1024=) | |
| 19 | g.13298759A>T | CA404342546 | CACNA1A | c.2874T>A (p.His958Gln) c.2880T>A (p.His960Gln) c.2877T>A (p.His959Gln) c.2886T>A (p.His962Gln) c.2736T>A (p.His912Gln) c.3072T>A (p.His1024Gln) | |
| 19 | g.13298760T>A | CA404342547 | CACNA1A | c.2873A>T (p.His958Leu) c.2879A>T (p.His960Leu) c.2876A>T (p.His959Leu) c.2885A>T (p.His962Leu) c.2735A>T (p.His912Leu) c.3071A>T (p.His1024Leu) | dbSNP |
| 19 | g.13298760T>C | CA9240456 | CACNA1A | c.2873A>G (p.His958Arg) c.2879A>G (p.His960Arg) c.2876A>G (p.His959Arg) c.2885A>G (p.His962Arg) c.2735A>G (p.His912Arg) c.3071A>G (p.His1024Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13298760T>G | CA404342548 | CACNA1A | c.2873A>C (p.His958Pro) c.2879A>C (p.His960Pro) c.2876A>C (p.His959Pro) c.2885A>C (p.His962Pro) c.2735A>C (p.His912Pro) c.3071A>C (p.His1024Pro) | |
| 19 | g.13298760T= | CA2323826012 | CACNA1A | c.2873A= (p.His958=) c.2879A= (p.His960=) c.2876A= (p.His959=) c.2885A= (p.His962=) c.2735A= (p.His912=) c.3071A= (p.His1024=) | |
| 19 | g.13298761G>A | CA404342550 | CACNA1A | c.2872C>T (p.His958Tyr) c.2878C>T (p.His960Tyr) c.2875C>T (p.His959Tyr) c.2884C>T (p.His962Tyr) c.2734C>T (p.His912Tyr) c.3070C>T (p.His1024Tyr) | |
| 19 | g.13298761G>C | CA404342549 | CACNA1A | c.2872C>G (p.His958Asp) c.2878C>G (p.His960Asp) c.2875C>G (p.His959Asp) c.2884C>G (p.His962Asp) c.2734C>G (p.His912Asp) c.3070C>G (p.His1024Asp) | |
| 19 | g.13298761G= | CA2323826014 | CACNA1A | c.2872C= (p.His958=) c.2878C= (p.His960=) c.2875C= (p.His959=) c.2884C= (p.His962=) c.2734C= (p.His912=) c.3070C= (p.His1024=) | |
| 19 | g.13298761G>T | CA305506243 | CACNA1A | c.2872C>A (p.His958Asn) c.2878C>A (p.His960Asn) c.2875C>A (p.His959Asn) c.2884C>A (p.His962Asn) c.2734C>A (p.His912Asn) c.3070C>A (p.His1024Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298762A>C | CA505784811 | CACNA1A | c.2871T>G (p.Arg957=) c.2877T>G (p.Arg959=) c.2874T>G (p.Arg958=) c.2883T>G (p.Arg961=) c.2733T>G (p.Arg911=) c.3069T>G (p.Arg1023=) | |
| 19 | g.13298762A>G | CA505784813 | CACNA1A | c.2871T>C (p.Arg957=) c.2877T>C (p.Arg959=) c.2874T>C (p.Arg958=) c.2883T>C (p.Arg961=) c.2733T>C (p.Arg911=) c.3069T>C (p.Arg1023=) | gnomAD v4 |
| 19 | g.13298762A>T | CA505784815 | CACNA1A | c.2871T>A (p.Arg957=) c.2877T>A (p.Arg959=) c.2874T>A (p.Arg958=) c.2883T>A (p.Arg961=) c.2733T>A (p.Arg911=) c.3069T>A (p.Arg1023=) | |
| 19 | g.13298763C>A | CA404342551 | CACNA1A | c.2870G>T (p.Arg957Leu) c.2876G>T (p.Arg959Leu) c.2873G>T (p.Arg958Leu) c.2882G>T (p.Arg961Leu) c.2732G>T (p.Arg911Leu) c.3068G>T (p.Arg1023Leu) | gnomAD v4 |
| 19 | g.13298763C= | CA2323826016 | CACNA1A | c.2870G= (p.Arg957=) c.2876G= (p.Arg959=) c.2873G= (p.Arg958=) c.2882G= (p.Arg961=) c.2732G= (p.Arg911=) c.3068G= (p.Arg1023=) | |
| 19 | g.13298763C>G | CA404342553 | CACNA1A | c.2870G>C (p.Arg957Pro) c.2876G>C (p.Arg959Pro) c.2873G>C (p.Arg958Pro) c.2882G>C (p.Arg961Pro) c.2732G>C (p.Arg911Pro) c.3068G>C (p.Arg1023Pro) | gnomAD v4 |
| 19 | g.13298763C>T | CA404342552 | CACNA1A | c.2870G>A (p.Arg957His) c.2876G>A (p.Arg959His) c.2873G>A (p.Arg958His) c.2882G>A (p.Arg961His) c.2732G>A (p.Arg911His) c.3068G>A (p.Arg1023His) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13298764G>A | CA404342554 | CACNA1A | c.2869C>T (p.Arg957Cys) c.2875C>T (p.Arg959Cys) c.2872C>T (p.Arg958Cys) c.2881C>T (p.Arg961Cys) c.2731C>T (p.Arg911Cys) c.3067C>T (p.Arg1023Cys) | gnomAD v4 |
| 19 | g.13298764G>C | CA404342556 | CACNA1A | c.2869C>G (p.Arg957Gly) c.2875C>G (p.Arg959Gly) c.2872C>G (p.Arg958Gly) c.2881C>G (p.Arg961Gly) c.2731C>G (p.Arg911Gly) c.3067C>G (p.Arg1023Gly) | |
| 19 | g.13298764G= | CA2323826018 | CACNA1A | c.2869C= (p.Arg957=) c.2875C= (p.Arg959=) c.2872C= (p.Arg958=) c.2881C= (p.Arg961=) c.2731C= (p.Arg911=) c.3067C= (p.Arg1023=) | |
| 19 | g.13298764G>T | CA404342555 | CACNA1A | c.2869C>A (p.Arg957Ser) c.2875C>A (p.Arg959Ser) c.2872C>A (p.Arg958Ser) c.2881C>A (p.Arg961Ser) c.2731C>A (p.Arg911Ser) c.3067C>A (p.Arg1023Ser) | dbSNP gnomAD v4 |
| 19 | g.13298765T>A | CA505784817 | CACNA1A | c.2868A>T (p.Arg956=) c.2874A>T (p.Arg958=) c.2871A>T (p.Arg957=) c.2880A>T (p.Arg960=) c.2730A>T (p.Arg910=) c.3066A>T (p.Arg1022=) | |
| 19 | g.13298765T>C | CA505784819 | CACNA1A | c.2868A>G (p.Arg956=) c.2874A>G (p.Arg958=) c.2871A>G (p.Arg957=) c.2880A>G (p.Arg960=) c.2730A>G (p.Arg910=) c.3066A>G (p.Arg1022=) | gnomAD v4 |
| 19 | g.13298765T>G | CA505784821 | CACNA1A | c.2868A>C (p.Arg956=) c.2874A>C (p.Arg958=) c.2871A>C (p.Arg957=) c.2880A>C (p.Arg960=) c.2730A>C (p.Arg910=) c.3066A>C (p.Arg1022=) | |
| 19 | g.13298766C>A | CA9240457 | CACNA1A | c.2867G>T (p.Arg956Leu) c.2873G>T (p.Arg958Leu) c.2870G>T (p.Arg957Leu) c.2879G>T (p.Arg960Leu) c.2729G>T (p.Arg910Leu) c.3065G>T (p.Arg1022Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298766C= | CA2323826020 | CACNA1A | c.2867G= (p.Arg956=) c.2873G= (p.Arg958=) c.2870G= (p.Arg957=) c.2879G= (p.Arg960=) c.2729G= (p.Arg910=) c.3065G= (p.Arg1022=) | |
| 19 | g.13298766C>G | CA404342557 | CACNA1A | c.2867G>C (p.Arg956Pro) c.2873G>C (p.Arg958Pro) c.2870G>C (p.Arg957Pro) c.2879G>C (p.Arg960Pro) c.2729G>C (p.Arg910Pro) c.3065G>C (p.Arg1022Pro) | ClinVar gnomAD v4 |
| 19 | g.13298766C>T | CA16607733 | CACNA1A | c.2867G>A (p.Arg956Gln) c.2873G>A (p.Arg958Gln) c.2870G>A (p.Arg957Gln) c.2879G>A (p.Arg960Gln) c.2729G>A (p.Arg910Gln) c.3065G>A (p.Arg1022Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13298767G>A | CA404342558 | CACNA1A | c.2866C>T (p.Arg956Ter) c.2872C>T (p.Arg958Ter) c.2869C>T (p.Arg957Ter) c.2878C>T (p.Arg960Ter) c.2728C>T (p.Arg910Ter) c.3064C>T (p.Arg1022Ter) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13298767G>C | CA404342559 | CACNA1A | c.2866C>G (p.Arg956Gly) c.2872C>G (p.Arg958Gly) c.2869C>G (p.Arg957Gly) c.2878C>G (p.Arg960Gly) c.2728C>G (p.Arg910Gly) c.3064C>G (p.Arg1022Gly) | |
| 19 | g.13298767G= | CA2323826023 | CACNA1A | c.2866C= (p.Arg956=) c.2872C= (p.Arg958=) c.2869C= (p.Arg957=) c.2878C= (p.Arg960=) c.2728C= (p.Arg910=) c.3064C= (p.Arg1022=) | |
| 19 | g.13298767G>T | CA505784823 | CACNA1A | c.2866C>A (p.Arg956=) c.2872C>A (p.Arg958=) c.2869C>A (p.Arg957=) c.2878C>A (p.Arg960=) c.2728C>A (p.Arg910=) c.3064C>A (p.Arg1022=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298767_13298768delinsGA | CA2323826022 | CACNA1A | c.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=) | |
| 19 | g.13298768del | CA274487 | CACNA1A | c.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 |
| 19 | g.13298768A= | CA2323826027 | CACNA1A | c.2865T= (p.His955=) c.2871T= (p.His957=) c.2868T= (p.His956=) c.2877T= (p.His959=) c.2727T= (p.His909=) c.3063T= (p.His1021=) | |
| 19 | g.13298768A>C | CA404342560 | CACNA1A | c.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 |
| 19 | g.13298768A>G | CA505784827 | CACNA1A | c.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 |
| 19 | g.13298768A>T | CA404342561 | CACNA1A | c.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 |
| 19 | g.13298768dup | CA920063092 | CACNA1A | c.2865dup (p.Arg956SerfsTer?) c.2871dup (p.Arg958SerfsTer?) c.2868dup (p.Arg957SerfsTer?) c.2877dup (p.Arg960SerfsTer?) c.2727dup (p.Arg910SerfsTer?) c.3063dup (p.Arg1022SerfsTer?) | dbSNP |
| 19 | g.13298769T>A | CA404342562 | CACNA1A | c.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) | |
| 19 | g.13298769T>C | CA404342563 | CACNA1A | c.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 |
| 19 | g.13298769T>G | CA404342564 | CACNA1A | c.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) | |
| 19 | g.13298770G>A | CA404342565 | CACNA1A | c.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 |
| 19 | g.13298770G>C | CA404342566 | CACNA1A | c.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) | |
| 19 | g.13298770G= | CA2323826029 | CACNA1A | c.2863C= (p.His955=) c.2869C= (p.His957=) c.2866C= (p.His956=) c.2875C= (p.His959=) c.2725C= (p.His909=) c.3061C= (p.His1021=) | |
| 19 | g.13298770G>T | CA404342567 | CACNA1A | c.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 |
| 19 | g.13298771C>A | CA404342568 | CACNA1A | c.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) | |
| 19 | g.13298771C= | CA2323826030 | CACNA1A | c.2862G= (p.Glu954=) c.2868G= (p.Glu956=) c.2865G= (p.Glu955=) c.2874G= (p.Glu958=) c.2724G= (p.Glu908=) c.3060G= (p.Glu1020=) | |
| 19 | g.13298771C>G | CA404342569 | CACNA1A | c.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) | |
| 19 | g.13298771C>T | CA505784832 | CACNA1A | c.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 |
| 19 | g.13298772T>A | CA404342570 | CACNA1A | c.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 |
| 19 | g.13298772T>C | CA404342571 | CACNA1A | c.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 |
| 19 | g.13298772T>G | CA404342572 | CACNA1A | c.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) | |
| 19 | g.13298773C>A | CA404342573 | CACNA1A | c.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 |
| 19 | g.13298773C= | CA2323826032 | CACNA1A | c.2860G= (p.Glu954=) c.2866G= (p.Glu956=) c.2863G= (p.Glu955=) c.2872G= (p.Glu958=) c.2722G= (p.Glu908=) c.3058G= (p.Glu1020=) | |
| 19 | g.13298773C>G | CA404342574 | CACNA1A | c.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) | |
| 19 | g.13298773C>T | CA404342575 | CACNA1A | c.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 |
| 19 | g.13298776del | CA2582833354 | CACNA1A | c.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 |
| 19 | g.13298774C>A | CA505784837 | CACNA1A | c.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 |
| 19 | g.13298774C>G | CA505784840 | CACNA1A | c.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 |
| 19 | g.13298774C>T | CA505784842 | CACNA1A | c.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 |
| 19 | g.13298779_13298788del | CA2695228297 | CACNA1A | c.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?) | |
| 19 | g.13298775C>A | CA404342576 | CACNA1A | c.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 |
| 19 | g.13298775C= | CA2323826033 | CACNA1A | c.2858G= (p.Gly953=) c.2864G= (p.Gly955=) c.2861G= (p.Gly954=) c.2870G= (p.Gly957=) c.2720G= (p.Gly907=) c.3056G= (p.Gly1019=) | |
| 19 | g.13298775C>G | CA404342577 | CACNA1A | c.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 |
| 19 | g.13298775C>T | CA305506247 | CACNA1A | c.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 |
| 19 | g.13298776C>A | CA404342578 | CACNA1A | c.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 |
| 19 | g.13298776C= | CA2323826036 | CACNA1A | c.2857G= (p.Gly953=) c.2863G= (p.Gly955=) c.2860G= (p.Gly954=) c.2869G= (p.Gly957=) c.2719G= (p.Gly907=) c.3055G= (p.Gly1019=) | |
| 19 | g.13298776C>G | CA404342579 | CACNA1A | c.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 |
| 19 | g.13298776C>T | CA16043087 | CACNA1A | c.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 |
| 19 | g.13298777G>A | CA505784845 | CACNA1A | c.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 |
| 19 | g.13298777G>C | CA404342580 | CACNA1A | c.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) | |
| 19 | g.13298777G= | CA2323826038 | CACNA1A | c.2856C= (p.Asp952=) c.2862C= (p.Asp954=) c.2859C= (p.Asp953=) c.2868C= (p.Asp956=) c.2718C= (p.Asp906=) c.3054C= (p.Asp1018=) | |
| 19 | g.13298777G>T | CA404342581 | CACNA1A | c.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 |
| 19 | g.13298778T>A | CA404342582 | CACNA1A | c.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) | |
| 19 | g.13298778T>C | CA404342583 | CACNA1A | c.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) | |
| 19 | g.13298778T>G | CA404342584 | CACNA1A | c.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) | |
| 19 | g.13298778_13298811del | CA2739291192 | CACNA1A | c.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?) | |
| 19 | g.13298779C>A | CA404342585 | CACNA1A | c.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 |
| 19 | g.13298779C>G | CA404342586 | CACNA1A | c.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) | |
| 19 | g.13298779C>T | CA404342587 | CACNA1A | c.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) | |
| 19 | g.13298779_13298789delinsCCGCGCCCGTG | CA2323826040 | CACNA1A | c.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=) | |
| 19 | g.13298780C>A | CA505784850 | CACNA1A | c.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 |
| 19 | g.13298780C= | CA2323826043 | CACNA1A | c.2853G= (p.Ala951=) c.2859G= (p.Ala953=) c.2856G= (p.Ala952=) c.2865G= (p.Ala955=) c.2715G= (p.Ala905=) c.3051G= (p.Ala1017=) | |
| 19 | g.13298780C>G | CA505784852 | CACNA1A | c.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=) | |
| 19 | g.13298780C>T | CA9240458 | CACNA1A | c.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 |
| 19 | g.13298784_13298793del | CA16620790 | CACNA1A | c.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 |
| 19 | g.13298780_13298781insCGCGCCCGTG | CA920063094 | CACNA1A | c.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 |
| 19 | g.13298781G>A | CA404342588 | CACNA1A | c.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 |
| 19 | g.13298781G>C | CA404342589 | CACNA1A | c.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) | |
| 19 | g.13298781G= | CA2323826047 | CACNA1A | c.2852C= (p.Ala951=) c.2858C= (p.Ala953=) c.2855C= (p.Ala952=) c.2864C= (p.Ala955=) c.2714C= (p.Ala905=) c.3050C= (p.Ala1017=) | |
| 19 | g.13298781G>T | CA404342590 | CACNA1A | c.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) | |
| 19 | g.13298782C>A | CA404342591 | CACNA1A | c.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 |
| 19 | g.13298782C>G | CA404342592 | CACNA1A | c.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) | |
| 19 | g.13298782C>T | CA404342593 | CACNA1A | c.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 |
| 19 | g.13298782_13298788delinsCGCCCGT | CA2323826049 | CACNA1A | c.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=) | |
| 19 | g.13298783G>A | CA505784860 | CACNA1A | c.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 |
| 19 | g.13298783G>C | CA505784861 | CACNA1A | c.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 |
| 19 | g.13298783G>T | CA505784862 | CACNA1A | c.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 |
| 19 | g.13298785_13298790del | CA632123093 | CACNA1A | c.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 |
| 19 | g.13298784C>A | CA404342595 | CACNA1A | c.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 |
| 19 | g.13298784C>G | CA404342596 | CACNA1A | c.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) | |
| 19 | g.13298784C>T | CA404342594 | CACNA1A | c.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 |
| 19 | g.13298785C>A | CA404342597 | CACNA1A | c.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) | |
| 19 | g.13298785C>G | CA404342598 | CACNA1A | c.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) | |
| 19 | g.13298785C>T | CA404342599 | CACNA1A | c.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) | |
| 19 | g.13298786C>A | CA505784865 | CACNA1A | c.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 |
| 19 | g.13298786C= | CA2323826052 | CACNA1A | c.2847G= (p.Thr949=) c.2853G= (p.Thr951=) c.2850G= (p.Thr950=) c.2859G= (p.Thr953=) c.2709G= (p.Thr903=) c.3045G= (p.Thr1015=) | |
| 19 | g.13298786C>G | CA505784866 | CACNA1A | c.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 |
| 19 | g.13298786C>T | CA505784867 | CACNA1A | c.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 |
| 19 | g.13298787G>A | CA404342600 | CACNA1A | c.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 |
| 19 | g.13298787G>C | CA404342601 | CACNA1A | c.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 |
| 19 | g.13298787G= | CA2323826053 | CACNA1A | c.2846C= (p.Thr949=) c.2852C= (p.Thr951=) c.2849C= (p.Thr950=) c.2858C= (p.Thr953=) c.2708C= (p.Thr903=) c.3044C= (p.Thr1015=) | |
| 19 | g.13298787G>T | CA404342602 | CACNA1A | c.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 |
| 19 | g.13298788T>A | CA404342603 | CACNA1A | c.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) | |
| 19 | g.13298788T>C | CA404342605 | CACNA1A | c.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 |
| 19 | g.13298788T>G | CA404342604 | CACNA1A | c.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) | |
| 19 | g.13298789G>A | CA505784870 | CACNA1A | c.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=) | |
| 19 | g.13298789G>C | CA9240459 | CACNA1A | c.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 |
| 19 | g.13298789G= | CA2323826056 | CACNA1A | c.2844C= (p.Arg948=) c.2850C= (p.Arg950=) c.2847C= (p.Arg949=) c.2856C= (p.Arg952=) c.2706C= (p.Arg902=) c.3042C= (p.Arg1014=) | |
| 19 | g.13298789G>T | CA505784872 | CACNA1A | c.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 |
| 19 | g.13298789_13298796del | CA2580096609 | CACNA1A | c.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 |
| 19 | g.13298790C>A | CA404342606 | CACNA1A | c.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 |
| 19 | g.13298790C= | CA2323826058 | CACNA1A | c.2843G= (p.Arg948=) c.2849G= (p.Arg950=) c.2846G= (p.Arg949=) c.2855G= (p.Arg952=) c.2705G= (p.Arg902=) c.3041G= (p.Arg1014=) | |
| 19 | g.13298790C>G | CA404342607 | CACNA1A | c.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) | |
| 19 | g.13298790C>T | CA404342608 | CACNA1A | c.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 |
| 19 | g.13298791G>A | CA305506260 | CACNA1A | c.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 |
| 19 | g.13298791G>C | CA404342609 | CACNA1A | c.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 |
| 19 | g.13298791G= | CA2323826060 | CACNA1A | c.2842C= (p.Arg948=) c.2848C= (p.Arg950=) c.2845C= (p.Arg949=) c.2854C= (p.Arg952=) c.2704C= (p.Arg902=) c.3040C= (p.Arg1014=) | |
| 19 | g.13298791G>T | CA305506265 | CACNA1A | c.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 |
| 19 | g.13298792C>A | CA505784881 | CACNA1A | c.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 |
| 19 | g.13298792C= | CA2323826062 | CACNA1A | c.2841G= (p.Pro947=) c.2847G= (p.Pro949=) c.2844G= (p.Pro948=) c.2853G= (p.Pro951=) c.2703G= (p.Pro901=) c.3039G= (p.Pro1013=) | |
| 19 | g.13298792C>G | CA505784884 | CACNA1A | c.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 |
| 19 | g.13298792C>T | CA9240460 | CACNA1A | c.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 |