| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23532378_23536675del | CA913190465 | NPC1 | c.3243_3755-94del c.2321_2833-94del c.3294_3805+977del c.3294_3806-94del c.3243_3754+977del c.2829_3340+977del | ClinVar |
| 18 | g.23535581_23535583del | CA2641278414 | NPC1 | c.3363_3365del (p.Trp1122del) c.118_120del n.118_120del c.2441_2443del c.40_42del c.3414_3416del (p.Trp1139del) c.2949_2951del (p.Trp984del) | gnomAD v4 |
| 18 | g.23535583G>A | CA503521706 | NPC1 | c.3363C>T (p.Leu1121=) c.118C>T n.118C>T c.2441C>T c.40C>T c.3414C>T (p.Leu1138=) c.2949C>T (p.Leu983=) | |
| 18 | g.23535583G>C | CA503521707 | NPC1 | c.3363C>G (p.Leu1121=) c.118C>G n.118C>G c.2441C>G c.40C>G c.3414C>G (p.Leu1138=) c.2949C>G (p.Leu983=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535583G= | CA2290163895 | NPC1 | c.3363C= (p.Leu1121=) c.118C= n.118C= c.2441C= c.40C= c.3414C= (p.Leu1138=) c.2949C= (p.Leu983=) | |
| 18 | g.23535583G>T | CA503521708 | NPC1 | c.3363C>A (p.Leu1121=) c.118C>A n.118C>A c.2441C>A c.40C>A c.3414C>A (p.Leu1138=) c.2949C>A (p.Leu983=) | |
| 18 | g.23535584A= | CA2290163896 | NPC1 | c.3362T= (p.Leu1121=) c.117T= n.117T= c.2440T= c.39T= c.3413T= (p.Leu1138=) c.2948T= (p.Leu983=) | |
| 18 | g.23535584A>C | CA401791367 | NPC1 | c.3362T>G (p.Leu1121Arg) c.117T>G n.117T>G c.2440T>G c.39T>G c.3413T>G (p.Leu1138Arg) c.2948T>G (p.Leu983Arg) | dbSNP gnomAD v4 |
| 18 | g.23535584A>G | CA401791368 | NPC1 | c.3362T>C (p.Leu1121Pro) c.117T>C n.117T>C c.2440T>C c.39T>C c.3413T>C (p.Leu1138Pro) c.2948T>C (p.Leu983Pro) | gnomAD v4 |
| 18 | g.23535584A>T | CA401791369 | NPC1 | c.3362T>A (p.Leu1121His) c.117T>A n.117T>A c.2440T>A c.39T>A c.3413T>A (p.Leu1138His) c.2948T>A (p.Leu983His) | |
| 18 | g.23535585G>A | CA401791370 | NPC1 | c.3361C>T (p.Leu1121Phe) c.116C>T n.116C>T c.2439C>T c.38C>T c.3412C>T (p.Leu1138Phe) c.2947C>T (p.Leu983Phe) | dbSNP |
| 18 | g.23535585G>C | CA401791371 | NPC1 | c.3361C>G (p.Leu1121Val) c.116C>G n.116C>G c.2439C>G c.38C>G c.3412C>G (p.Leu1138Val) c.2947C>G (p.Leu983Val) | |
| 18 | g.23535585G= | CA2290163897 | NPC1 | c.3361C= (p.Leu1121=) c.116C= n.116C= c.2439C= c.38C= c.3412C= (p.Leu1138=) c.2947C= (p.Leu983=) | |
| 18 | g.23535585G>T | CA8912792 | NPC1 | c.3361C>A (p.Leu1121Ile) c.116C>A n.116C>A c.2439C>A c.38C>A c.3412C>A (p.Leu1138Ile) c.2947C>A (p.Leu983Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23535586C>A | CA401791372 | NPC1 | c.3360G>T (p.Glu1120Asp) c.115G>T n.115G>T c.2438G>T c.37G>T c.3411G>T (p.Glu1137Asp) c.2946G>T (p.Glu982Asp) | |
| 18 | g.23535586C>G | CA401791373 | NPC1 | c.3360G>C (p.Glu1120Asp) c.115G>C n.115G>C c.2438G>C c.37G>C c.3411G>C (p.Glu1137Asp) c.2946G>C (p.Glu982Asp) | |
| 18 | g.23535586C>T | CA503521709 | NPC1 | c.3360G>A (p.Glu1120=) c.115G>A n.115G>A c.2438G>A c.37G>A c.3411G>A (p.Glu1137=) c.2946G>A (p.Glu982=) | |
| 18 | g.23535586_23535587insGT | CA2580095542 | NPC1 | c.3359_3360insAC (p.Leu1121ArgfsTer30) c.114_115insAC n.114_115insAC c.2437_2438insAC c.36_37insAC c.3410_3411insAC (p.Leu1138ArgfsTer30) c.2945_2946insAC (p.Leu983ArgfsTer30) | ClinVar |
| 18 | g.23535587T>A | CA401791374 | NPC1 | c.3359A>T (p.Glu1120Val) c.114A>T n.114A>T c.2437A>T c.36A>T c.3410A>T (p.Glu1137Val) c.2945A>T (p.Glu982Val) | |
| 18 | g.23535587T>C | CA401791375 | NPC1 | c.3359A>G (p.Glu1120Gly) c.114A>G n.114A>G c.2437A>G c.36A>G c.3410A>G (p.Glu1137Gly) c.2945A>G (p.Glu982Gly) | |
| 18 | g.23535587T>G | CA401791376 | NPC1 | c.3359A>C (p.Glu1120Ala) c.114A>C n.114A>C c.2437A>C c.36A>C c.3410A>C (p.Glu1137Ala) c.2945A>C (p.Glu982Ala) | |
| 18 | g.23535588C>A | CA401791379 | NPC1 | c.3358G>T (p.Glu1120Ter) c.113G>T n.113G>T c.2436G>T c.35G>T c.3409G>T (p.Glu1137Ter) c.2944G>T (p.Glu982Ter) | |
| 18 | g.23535588C>G | CA401791377 | NPC1 | c.3358G>C (p.Glu1120Gln) c.113G>C n.113G>C c.2436G>C c.35G>C c.3409G>C (p.Glu1137Gln) c.2944G>C (p.Glu982Gln) | |
| 18 | g.23535588C>T | CA401791378 | NPC1 | c.3358G>A (p.Glu1120Lys) c.113G>A n.113G>A c.2436G>A c.35G>A c.3409G>A (p.Glu1137Lys) c.2944G>A (p.Glu982Lys) | |
| 18 | g.23535589A>C | CA401791380 | NPC1 | c.3357T>G (p.Cys1119Trp) c.112T>G n.112T>G c.2435T>G c.34T>G c.3408T>G (p.Cys1136Trp) c.2943T>G (p.Cys981Trp) | gnomAD v4 |
| 18 | g.23535589A>G | CA503521710 | NPC1 | c.3357T>C (p.Cys1119=) c.112T>C n.112T>C c.2435T>C c.34T>C c.3408T>C (p.Cys1136=) c.2943T>C (p.Cys981=) | |
| 18 | g.23535589A>T | CA401791381 | NPC1 | c.3357T>A (p.Cys1119Ter) c.112T>A n.112T>A c.2435T>A c.34T>A c.3408T>A (p.Cys1136Ter) c.2943T>A (p.Cys981Ter) | |
| 18 | g.23535590C>A | CA401791382 | NPC1 | c.3356G>T (p.Cys1119Phe) c.111G>T n.111G>T c.2434G>T c.33G>T c.3407G>T (p.Cys1136Phe) c.2942G>T (p.Cys981Phe) | |
| 18 | g.23535590C= | CA2290163898 | NPC1 | c.3356G= (p.Cys1119=) c.111G= n.111G= c.2434G= c.33G= c.3407G= (p.Cys1136=) c.2942G= (p.Cys981=) | |
| 18 | g.23535590C>G | CA401791383 | NPC1 | c.3356G>C (p.Cys1119Ser) c.111G>C n.111G>C c.2434G>C c.33G>C c.3407G>C (p.Cys1136Ser) c.2942G>C (p.Cys981Ser) | |
| 18 | g.23535590C>T | CA401791384 | NPC1 | c.3356G>A (p.Cys1119Tyr) c.111G>A n.111G>A c.2434G>A c.33G>A c.3407G>A (p.Cys1136Tyr) c.2942G>A (p.Cys981Tyr) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23535591A= | CA2290163899 | NPC1 | c.3355T= (p.Cys1119=) c.110T= n.110T= c.2433T= c.32T= c.3406T= (p.Cys1136=) c.2941T= (p.Cys981=) | |
| 18 | g.23535591A>C | CA401791385 | NPC1 | c.3355T>G (p.Cys1119Gly) c.110T>G n.110T>G c.2433T>G c.32T>G c.3406T>G (p.Cys1136Gly) c.2941T>G (p.Cys981Gly) | gnomAD v4 |
| 18 | g.23535591A>G | CA401791386 | NPC1 | c.3355T>C (p.Cys1119Arg) c.110T>C n.110T>C c.2433T>C c.32T>C c.3406T>C (p.Cys1136Arg) c.2941T>C (p.Cys981Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23535591A>T | CA401791387 | NPC1 | c.3355T>A (p.Cys1119Ser) c.110T>A n.110T>A c.2433T>A c.32T>A c.3406T>A (p.Cys1136Ser) c.2941T>A (p.Cys981Ser) | |
| 18 | g.23535592G>A | CA503521712 | NPC1 | c.3354C>T (p.Gly1118=) c.109C>T n.109C>T c.2432C>T c.31C>T c.3405C>T (p.Gly1135=) c.2940C>T (p.Gly980=) | |
| 18 | g.23535592G>C | CA503521713 | NPC1 | c.3354C>G (p.Gly1118=) c.109C>G n.109C>G c.2432C>G c.31C>G c.3405C>G (p.Gly1135=) c.2940C>G (p.Gly980=) | |
| 18 | g.23535592G>T | CA503521711 | NPC1 | c.3354C>A (p.Gly1118=) c.109C>A n.109C>A c.2432C>A c.31C>A c.3405C>A (p.Gly1135=) c.2940C>A (p.Gly980=) | |
| 18 | g.23535592_23535593delinsGC | CA2290163900 | NPC1 | c.3353_3354delinsGC (p.Gly1118=) c.108_109delinsGC n.108_109delinsGC c.2431_2432delinsGC c.30_31delinsGC c.3404_3405delinsGC (p.Gly1135=) c.2939_2940delinsGC (p.Gly980=) | |
| 18 | g.23535593C>A | CA401791388 | NPC1 | c.3353G>T (p.Gly1118Val) c.108G>T n.108G>T c.2431G>T c.30G>T c.3404G>T (p.Gly1135Val) c.2939G>T (p.Gly980Val) | |
| 18 | g.23535593C= | CA2290163902 | NPC1 | c.3353G= (p.Gly1118=) c.108G= n.108G= c.2431G= c.30G= c.3404G= (p.Gly1135=) c.2939G= (p.Gly980=) | |
| 18 | g.23535593C>G | CA401791389 | NPC1 | c.3353G>C (p.Gly1118Ala) c.108G>C n.108G>C c.2431G>C c.30G>C c.3404G>C (p.Gly1135Ala) c.2939G>C (p.Gly980Ala) | |
| 18 | g.23535593C>T | CA401791390 | NPC1 | c.3353G>A (p.Gly1118Asp) c.108G>A n.108G>A c.2431G>A c.30G>A c.3404G>A (p.Gly1135Asp) c.2939G>A (p.Gly980Asp) | dbSNP |
| 18 | g.23535595del | CA2290163901 | NPC1 | c.3353del (p.Gly1118AlafsTer?) c.108del n.108del c.2431del c.30del c.3404del (p.Gly1135AlafsTer?) c.2939del (p.Gly980AlafsTer?) | dbSNP |
| 18 | g.23535594C>A | CA401791391 | NPC1 | c.3352G>T (p.Gly1118Cys) c.107G>T n.107G>T c.2430G>T c.29G>T c.3403G>T (p.Gly1135Cys) c.2938G>T (p.Gly980Cys) | |
| 18 | g.23535594C= | CA2290163903 | NPC1 | c.3352G= (p.Gly1118=) c.107G= n.107G= c.2430G= c.29G= c.3403G= (p.Gly1135=) c.2938G= (p.Gly980=) | |
| 18 | g.23535594C>G | CA401791392 | NPC1 | c.3352G>C (p.Gly1118Arg) c.107G>C n.107G>C c.2430G>C c.29G>C c.3403G>C (p.Gly1135Arg) c.2938G>C (p.Gly980Arg) | |
| 18 | g.23535594C>T | CA401791393 | NPC1 | c.3352G>A (p.Gly1118Ser) c.107G>A n.107G>A c.2430G>A c.29G>A c.3403G>A (p.Gly1135Ser) c.2938G>A (p.Gly980Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.23535595C>A | CA503521716 | NPC1 | c.3351G>T (p.Leu1117=) c.106G>T n.106G>T c.2429G>T c.28G>T c.3402G>T (p.Leu1134=) c.2937G>T (p.Leu979=) | |
| 18 | g.23535595C>G | CA503521715 | NPC1 | c.3351G>C (p.Leu1117=) c.106G>C n.106G>C c.2429G>C c.28G>C c.3402G>C (p.Leu1134=) c.2937G>C (p.Leu979=) |