| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49216381C>A | CA412963847 | CACNA1F | c.3236+1G>T (n.3236+1G>T) c.3074+1G>T (n.3074+1G>T) c.3269+1G>T (n.3269+1G>T) c.503+1G>T (n.503+1G>T) | gnomAD v4 |
| X | g.49216381C= | CA2428539705 | CACNA1F | c.3236+1G= (n.3236+1G=) c.3074+1G= (n.3074+1G=) c.3269+1G= (n.3269+1G=) c.503+1G= (n.503+1G=) | |
| X | g.49216381C>G | CA412963848 | CACNA1F | c.3236+1G>C (n.3236+1G>C) c.3074+1G>C (n.3074+1G>C) c.3269+1G>C (n.3269+1G>C) c.503+1G>C (n.503+1G>C) | |
| X | g.49216381C>T | CA16621894 | CACNA1F | c.3236+1G>A (n.3236+1G>A) c.3074+1G>A (n.3074+1G>A) c.3269+1G>A (n.3269+1G>A) c.503+1G>A (n.503+1G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.49216382G>A | CA10410513 | CACNA1F | c.3236C>T (p.Ala1079Val) c.3074C>T (p.Ala1025Val) c.3269C>T (p.Ala1090Val) c.503C>T (p.Ala168Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.49216382G>C | CA412963849 | CACNA1F | c.3236C>G (p.Ala1079Gly) c.3074C>G (p.Ala1025Gly) c.3269C>G (p.Ala1090Gly) c.503C>G (p.Ala168Gly) | |
| X | g.49216382G= | CA2428539706 | CACNA1F | c.3236C= (p.Ala1079=) c.3074C= (p.Ala1025=) c.3269C= (p.Ala1090=) c.503C= (p.Ala168=) | |
| X | g.49216382G>T | CA412963850 | CACNA1F | c.3236C>A (p.Ala1079Glu) c.3074C>A (p.Ala1025Glu) c.3269C>A (p.Ala1090Glu) c.503C>A (p.Ala168Glu) | |
| X | g.49216383C>A | CA412963851 | CACNA1F | c.3235G>T (p.Ala1079Ser) c.3073G>T (p.Ala1025Ser) c.3268G>T (p.Ala1090Ser) c.502G>T (p.Ala168Ser) | |
| X | g.49216383C>G | CA412963852 | CACNA1F | c.3235G>C (p.Ala1079Pro) c.3073G>C (p.Ala1025Pro) c.3268G>C (p.Ala1090Pro) c.502G>C (p.Ala168Pro) | |
| X | g.49216383C>T | CA412963853 | CACNA1F | c.3235G>A (p.Ala1079Thr) c.3073G>A (p.Ala1025Thr) c.3268G>A (p.Ala1090Thr) c.502G>A (p.Ala168Thr) | gnomAD v4 |
| X | g.49216384A= | CA2428539707 | CACNA1F | c.3234T= (p.Pro1078=) c.3072T= (p.Pro1024=) c.3267T= (p.Pro1089=) c.501T= (p.Pro167=) | |
| X | g.49216384A>C | CA516377267 | CACNA1F | c.3234T>G (p.Pro1078=) c.3072T>G (p.Pro1024=) c.3267T>G (p.Pro1089=) c.501T>G (p.Pro167=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.49216384A>G | CA516377268 | CACNA1F | c.3234T>C (p.Pro1078=) c.3072T>C (p.Pro1024=) c.3267T>C (p.Pro1089=) c.501T>C (p.Pro167=) | |
| X | g.49216384A>T | CA516377269 | CACNA1F | c.3234T>A (p.Pro1078=) c.3072T>A (p.Pro1024=) c.3267T>A (p.Pro1089=) c.501T>A (p.Pro167=) | |
| X | g.49216385G>A | CA412963854 | CACNA1F | c.3233C>T (p.Pro1078Leu) c.3071C>T (p.Pro1024Leu) c.3266C>T (p.Pro1089Leu) c.500C>T (p.Pro167Leu) | |
| X | g.49216385G>C | CA412963855 | CACNA1F | c.3233C>G (p.Pro1078Arg) c.3071C>G (p.Pro1024Arg) c.3266C>G (p.Pro1089Arg) c.500C>G (p.Pro167Arg) | |
| X | g.49216385G>T | CA412963856 | CACNA1F | c.3233C>A (p.Pro1078His) c.3071C>A (p.Pro1024His) c.3266C>A (p.Pro1089His) c.500C>A (p.Pro167His) | |
| X | g.49216386G>A | CA412963857 | CACNA1F | c.3232C>T (p.Pro1078Ser) c.3070C>T (p.Pro1024Ser) c.3265C>T (p.Pro1089Ser) c.499C>T (p.Pro167Ser) | |
| X | g.49216386G>C | CA412963858 | CACNA1F | c.3232C>G (p.Pro1078Ala) c.3070C>G (p.Pro1024Ala) c.3265C>G (p.Pro1089Ala) c.499C>G (p.Pro167Ala) | |
| X | g.49216386G>T | CA412963859 | CACNA1F | c.3232C>A (p.Pro1078Thr) c.3070C>A (p.Pro1024Thr) c.3265C>A (p.Pro1089Thr) c.499C>A (p.Pro167Thr) | |
| X | g.49216387C>A | CA412963862 | CACNA1F | c.3231G>T (p.Trp1077Cys) c.3069G>T (p.Trp1023Cys) c.3264G>T (p.Trp1088Cys) c.498G>T (p.Trp166Cys) | COSMIC |
| X | g.49216387C>G | CA412963860 | CACNA1F | c.3231G>C (p.Trp1077Cys) c.3069G>C (p.Trp1023Cys) c.3264G>C (p.Trp1088Cys) c.498G>C (p.Trp166Cys) | |
| X | g.49216387C>T | CA412963861 | CACNA1F | c.3231G>A (p.Trp1077Ter) c.3069G>A (p.Trp1023Ter) c.3264G>A (p.Trp1088Ter) c.498G>A (p.Trp166Ter) | COSMIC |
| X | g.49216388C>A | CA412963863 | CACNA1F | c.3230G>T (p.Trp1077Leu) c.3068G>T (p.Trp1023Leu) c.3263G>T (p.Trp1088Leu) c.497G>T (p.Trp166Leu) | gnomAD v4 |
| X | g.49216388C>G | CA412963864 | CACNA1F | c.3230G>C (p.Trp1077Ser) c.3068G>C (p.Trp1023Ser) c.3263G>C (p.Trp1088Ser) c.497G>C (p.Trp166Ser) | |
| X | g.49216388C>T | CA412963865 | CACNA1F | c.3230G>A (p.Trp1077Ter) c.3068G>A (p.Trp1023Ter) c.3263G>A (p.Trp1088Ter) c.497G>A (p.Trp166Ter) | |
| X | g.49216389A>C | CA412963866 | CACNA1F | c.3229T>G (p.Trp1077Gly) c.3067T>G (p.Trp1023Gly) c.3262T>G (p.Trp1088Gly) c.496T>G (p.Trp166Gly) | |
| X | g.49216389A>G | CA412963867 | CACNA1F | c.3229T>C (p.Trp1077Arg) c.3067T>C (p.Trp1023Arg) c.3262T>C (p.Trp1088Arg) c.496T>C (p.Trp166Arg) | |
| X | g.49216389A>T | CA412963868 | CACNA1F | c.3229T>A (p.Trp1077Arg) c.3067T>A (p.Trp1023Arg) c.3262T>A (p.Trp1088Arg) c.496T>A (p.Trp166Arg) | |
| X | g.49216390G>A | CA516377270 | CACNA1F | c.3228C>T (p.Gly1076=) c.3066C>T (p.Gly1022=) c.3261C>T (p.Gly1087=) c.495C>T (p.Gly165=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.49216390G>C | CA516377271 | CACNA1F | c.3228C>G (p.Gly1076=) c.3066C>G (p.Gly1022=) c.3261C>G (p.Gly1087=) c.495C>G (p.Gly165=) | |
| X | g.49216390G= | CA2428539708 | CACNA1F | c.3228C= (p.Gly1076=) c.3066C= (p.Gly1022=) c.3261C= (p.Gly1087=) c.495C= (p.Gly165=) | |
| X | g.49216390G>T | CA516377272 | CACNA1F | c.3228C>A (p.Gly1076=) c.3066C>A (p.Gly1022=) c.3261C>A (p.Gly1087=) c.495C>A (p.Gly165=) | |
| X | g.49216391C>A | CA412963869 | CACNA1F | c.3227G>T (p.Gly1076Val) c.3065G>T (p.Gly1022Val) c.3260G>T (p.Gly1087Val) c.494G>T (p.Gly165Val) | gnomAD v4 |
| X | g.49216391C>G | CA412963870 | CACNA1F | c.3227G>C (p.Gly1076Ala) c.3065G>C (p.Gly1022Ala) c.3260G>C (p.Gly1087Ala) c.494G>C (p.Gly165Ala) | gnomAD v4 |
| X | g.49216391C>T | CA412963871 | CACNA1F | c.3227G>A (p.Gly1076Asp) c.3065G>A (p.Gly1022Asp) c.3260G>A (p.Gly1087Asp) c.494G>A (p.Gly165Asp) | |
| X | g.49216392C>A | CA412963872 | CACNA1F | c.3226G>T (p.Gly1076Cys) c.3064G>T (p.Gly1022Cys) c.3259G>T (p.Gly1087Cys) c.493G>T (p.Gly165Cys) | |
| X | g.49216392C>G | CA412963873 | CACNA1F | c.3226G>C (p.Gly1076Arg) c.3064G>C (p.Gly1022Arg) c.3259G>C (p.Gly1087Arg) c.493G>C (p.Gly165Arg) | |
| X | g.49216392C>T | CA412963874 | CACNA1F | c.3226G>A (p.Gly1076Ser) c.3064G>A (p.Gly1022Ser) c.3259G>A (p.Gly1087Ser) c.493G>A (p.Gly165Ser) | |
| X | g.49216393T>A | CA412963876 | CACNA1F | c.3225A>T (p.Glu1075Asp) c.3063A>T (p.Glu1021Asp) c.3258A>T (p.Glu1086Asp) c.492A>T (p.Glu164Asp) | |
| X | g.49216393T>C | CA516377273 | CACNA1F | c.3225A>G (p.Glu1075=) c.3063A>G (p.Glu1021=) c.3258A>G (p.Glu1086=) c.492A>G (p.Glu164=) | |
| X | g.49216393T>G | CA412963875 | CACNA1F | c.3225A>C (p.Glu1075Asp) c.3063A>C (p.Glu1021Asp) c.3258A>C (p.Glu1086Asp) c.492A>C (p.Glu164Asp) | dbSNP |
| X | g.49216393T= | CA2428539709 | CACNA1F | c.3225A= (p.Glu1075=) c.3063A= (p.Glu1021=) c.3258A= (p.Glu1086=) c.492A= (p.Glu164=) | |
| X | g.49216394del | CA2573158897 | CACNA1F | c.3225del (p.Gly1076AlafsTer?) c.3063del (p.Gly1022AlafsTer?) c.3258del (p.Gly1087AlafsTer?) c.492del (p.Gly165AlafsTer?) | ClinVar dbSNP |
| X | g.49216394T>A | CA412963877 | CACNA1F | c.3224A>T (p.Glu1075Val) c.3062A>T (p.Glu1021Val) c.3257A>T (p.Glu1086Val) c.491A>T (p.Glu164Val) | |
| X | g.49216394T>C | CA412963878 | CACNA1F | c.3224A>G (p.Glu1075Gly) c.3062A>G (p.Glu1021Gly) c.3257A>G (p.Glu1086Gly) c.491A>G (p.Glu164Gly) | |
| X | g.49216394T>G | CA412963879 | CACNA1F | c.3224A>C (p.Glu1075Ala) c.3062A>C (p.Glu1021Ala) c.3257A>C (p.Glu1086Ala) c.491A>C (p.Glu164Ala) | |
| X | g.49216395C>A | CA412963880 | CACNA1F | c.3223G>T (p.Glu1075Ter) c.3061G>T (p.Glu1021Ter) c.3256G>T (p.Glu1086Ter) c.490G>T (p.Glu164Ter) | |
| X | g.49216395C>G | CA412963881 | CACNA1F | c.3223G>C (p.Glu1075Gln) c.3061G>C (p.Glu1021Gln) c.3256G>C (p.Glu1086Gln) c.490G>C (p.Glu164Gln) |