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.23535638C>A | CA401791475 | NPC1 | c.3308G>T (p.Gly1103Val) c.63G>T n.63G>T c.2386G>T c.3359G>T (p.Gly1120Val) c.2894G>T (p.Gly965Val) | gnomAD v4 |
18 | g.23535638C>G | CA401791474 | NPC1 | c.3308G>C (p.Gly1103Ala) c.63G>C n.63G>C c.2386G>C c.3359G>C (p.Gly1120Ala) c.2894G>C (p.Gly965Ala) | |
18 | g.23535638C>T | CA401791473 | NPC1 | c.3308G>A (p.Gly1103Asp) c.63G>A n.63G>A c.2386G>A c.3359G>A (p.Gly1120Asp) c.2894G>A (p.Gly965Asp) | gnomAD v4 |
18 | g.23535639C>A | CA401791476 | NPC1 | c.3307G>T (p.Gly1103Cys) c.62G>T n.62G>T c.2385G>T c.3358G>T (p.Gly1120Cys) c.2893G>T (p.Gly965Cys) | gnomAD v4 |
18 | g.23535639C= | CA2290163925 | NPC1 | c.3307G= (p.Gly1103=) c.62G= n.62G= c.2385G= c.3358G= (p.Gly1120=) c.2893G= (p.Gly965=) | |
18 | g.23535639C>G | CA401791477 | NPC1 | c.3307G>C (p.Gly1103Arg) c.62G>C n.62G>C c.2385G>C c.3358G>C (p.Gly1120Arg) c.2893G>C (p.Gly965Arg) | dbSNP gnomAD v4 |
18 | g.23535639C>T | CA401791478 | NPC1 | c.3307G>A (p.Gly1103Ser) c.62G>A n.62G>A c.2385G>A c.3358G>A (p.Gly1120Ser) c.2893G>A (p.Gly965Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.23535640G>A | CA8912802 | NPC1 | c.3306C>T (p.Leu1102=) c.61C>T n.61C>T c.2384C>T c.3357C>T (p.Leu1119=) c.2892C>T (p.Leu964=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535640G>C | CA503521751 | NPC1 | c.3306C>G (p.Leu1102=) c.61C>G n.61C>G c.2384C>G c.3357C>G (p.Leu1119=) c.2892C>G (p.Leu964=) | |
18 | g.23535640G= | CA2290163926 | NPC1 | c.3306C= (p.Leu1102=) c.61C= n.61C= c.2384C= c.3357C= (p.Leu1119=) c.2892C= (p.Leu964=) | |
18 | g.23535640G>T | CA503521752 | NPC1 | c.3306C>A (p.Leu1102=) c.61C>A n.61C>A c.2384C>A c.3357C>A (p.Leu1119=) c.2892C>A (p.Leu964=) | |
18 | g.23535641A>C | CA401791479 | NPC1 | c.3305T>G (p.Leu1102Arg) c.60T>G n.60T>G c.2383T>G c.3356T>G (p.Leu1119Arg) c.2891T>G (p.Leu964Arg) | |
18 | g.23535641A>G | CA401791480 | NPC1 | c.3305T>C (p.Leu1102Pro) c.60T>C n.60T>C c.2383T>C c.3356T>C (p.Leu1119Pro) c.2891T>C (p.Leu964Pro) | |
18 | g.23535641A>T | CA401791481 | NPC1 | c.3305T>A (p.Leu1102His) c.60T>A n.60T>A c.2383T>A c.3356T>A (p.Leu1119His) c.2891T>A (p.Leu964His) | |
18 | g.23535642G>A | CA401791482 | NPC1 | c.3304C>T (p.Leu1102Phe) c.59C>T n.59C>T c.2382C>T c.3355C>T (p.Leu1119Phe) c.2890C>T (p.Leu964Phe) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535642G>C | CA401791483 | NPC1 | c.3304C>G (p.Leu1102Val) c.59C>G n.59C>G c.2382C>G c.3355C>G (p.Leu1119Val) c.2890C>G (p.Leu964Val) | |
18 | g.23535642G= | CA2290163927 | NPC1 | c.3304C= (p.Leu1102=) c.59C= n.59C= c.2382C= c.3355C= (p.Leu1119=) c.2890C= (p.Leu964=) | |
18 | g.23535642G>T | CA401791484 | NPC1 | c.3304C>A (p.Leu1102Ile) c.59C>A n.59C>A c.2382C>A c.3355C>A (p.Leu1119Ile) c.2890C>A (p.Leu964Ile) | |
18 | g.23535643G>A | CA503521754 | NPC1 | c.3303C>T (p.Asn1101=) c.58C>T n.58C>T c.2381C>T c.3354C>T (p.Asn1118=) c.2889C>T (p.Asn963=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23535643G>C | CA401791485 | NPC1 | c.3303C>G (p.Asn1101Lys) c.58C>G n.58C>G c.2381C>G c.3354C>G (p.Asn1118Lys) c.2889C>G (p.Asn963Lys) | |
18 | g.23535643G= | CA2290163928 | NPC1 | c.3303C= (p.Asn1101=) c.58C= n.58C= c.2381C= c.3354C= (p.Asn1118=) c.2889C= (p.Asn963=) | |
18 | g.23535643G>T | CA401791486 | NPC1 | c.3303C>A (p.Asn1101Lys) c.58C>A n.58C>A c.2381C>A c.3354C>A (p.Asn1118Lys) c.2889C>A (p.Asn963Lys) | |
18 | g.23535644T>A | CA401791488 | NPC1 | c.3302A>T (p.Asn1101Ile) c.57A>T n.57A>T c.2380A>T c.3353A>T (p.Asn1118Ile) c.2888A>T (p.Asn963Ile) | gnomAD v4 |
18 | g.23535644T>C | CA401791489 | NPC1 | c.3302A>G (p.Asn1101Ser) c.57A>G n.57A>G c.2380A>G c.3353A>G (p.Asn1118Ser) c.2888A>G (p.Asn963Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535644T>G | CA401791487 | NPC1 | c.3302A>C (p.Asn1101Thr) c.57A>C n.57A>C c.2380A>C c.3353A>C (p.Asn1118Thr) c.2888A>C (p.Asn963Thr) | |
18 | g.23535644T= | CA2290163929 | NPC1 | c.3302A= (p.Asn1101=) c.57A= n.57A= c.2380A= c.3353A= (p.Asn1118=) c.2888A= (p.Asn963=) | |
18 | g.23535645T>A | CA401791492 | NPC1 | c.3301A>T (p.Asn1101Tyr) c.56A>T n.56A>T c.2379A>T c.3352A>T (p.Asn1118Tyr) c.2887A>T (p.Asn963Tyr) | |
18 | g.23535645T>C | CA401791490 | NPC1 | c.3301A>G (p.Asn1101Asp) c.56A>G n.56A>G c.2379A>G c.3352A>G (p.Asn1118Asp) c.2887A>G (p.Asn963Asp) | |
18 | g.23535645T>G | CA401791491 | NPC1 | c.3301A>C (p.Asn1101His) c.56A>C n.56A>C c.2379A>C c.3352A>C (p.Asn1118His) c.2887A>C (p.Asn963His) | |
18 | g.23535646G>A | CA503521758 | NPC1 | c.3300C>T (p.Phe1100=) c.55C>T n.55C>T c.2378C>T c.3351C>T (p.Phe1117=) c.2886C>T (p.Phe962=) | ClinVar dbSNP gnomAD v4 |
18 | g.23535646G>C | CA401791493 | NPC1 | c.3300C>G (p.Phe1100Leu) c.55C>G n.55C>G c.2378C>G c.3351C>G (p.Phe1117Leu) c.2886C>G (p.Phe962Leu) | |
18 | g.23535646G= | CA2290163930 | NPC1 | c.3300C= (p.Phe1100=) c.55C= n.55C= c.2378C= c.3351C= (p.Phe1117=) c.2886C= (p.Phe962=) | |
18 | g.23535646G>T | CA401791494 | NPC1 | c.3300C>A (p.Phe1100Leu) c.55C>A n.55C>A c.2378C>A c.3351C>A (p.Phe1117Leu) c.2886C>A (p.Phe962Leu) | |
18 | g.23535646_23535647dup | CA2499225056 | NPC1 | c.3299_3300dup (p.Asn1101SerfsTer13) c.54_55dup n.54_55dup c.2377_2378dup c.3350_3351dup (p.Asn1118SerfsTer13) c.2885_2886dup (p.Asn963SerfsTer13) | ClinVar dbSNP |
18 | g.23535647A>C | CA401791495 | NPC1 | c.3299T>G (p.Phe1100Cys) c.54T>G n.54T>G c.2377T>G c.3350T>G (p.Phe1117Cys) c.2885T>G (p.Phe962Cys) | |
18 | g.23535647A>G | CA401791496 | NPC1 | c.3299T>C (p.Phe1100Ser) c.54T>C n.54T>C c.2377T>C c.3350T>C (p.Phe1117Ser) c.2885T>C (p.Phe962Ser) | |
18 | g.23535647A>T | CA401791497 | NPC1 | c.3299T>A (p.Phe1100Tyr) c.54T>A n.54T>A c.2377T>A c.3350T>A (p.Phe1117Tyr) c.2885T>A (p.Phe962Tyr) | |
18 | g.23535648A>C | CA401791498 | NPC1 | c.3298T>G (p.Phe1100Val) c.53T>G n.53T>G c.2376T>G c.3349T>G (p.Phe1117Val) c.2884T>G (p.Phe962Val) | |
18 | g.23535648A>G | CA401791499 | NPC1 | c.3298T>C (p.Phe1100Leu) c.53T>C n.53T>C c.2376T>C c.3349T>C (p.Phe1117Leu) c.2884T>C (p.Phe962Leu) | |
18 | g.23535648A>T | CA401791500 | NPC1 | c.3298T>A (p.Phe1100Ile) c.53T>A n.53T>A c.2376T>A c.3349T>A (p.Phe1117Ile) c.2884T>A (p.Phe962Ile) | |
18 | g.23535649G>A | CA503521759 | NPC1 | c.3297C>T (p.Ile1099=) c.52C>T n.52C>T c.2375C>T c.3348C>T (p.Ile1116=) c.2883C>T (p.Ile961=) | gnomAD v4 |
18 | g.23535649G>C | CA401791501 | NPC1 | c.3297C>G (p.Ile1099Met) c.52C>G n.52C>G c.2375C>G c.3348C>G (p.Ile1116Met) c.2883C>G (p.Ile961Met) | |
18 | g.23535649G= | CA2290163931 | NPC1 | c.3297C= (p.Ile1099=) c.52C= n.52C= c.2375C= c.3348C= (p.Ile1116=) c.2883C= (p.Ile961=) | |
18 | g.23535649G>T | CA297079237 | NPC1 | c.3297C>A (p.Ile1099=) c.52C>A n.52C>A c.2375C>A c.3348C>A (p.Ile1116=) c.2883C>A (p.Ile961=) | ClinVar dbSNP gnomAD v4 |
18 | g.23535650A>C | CA401791504 | NPC1 | c.3296T>G (p.Ile1099Ser) c.51T>G n.51T>G c.2374T>G c.3347T>G (p.Ile1116Ser) c.2882T>G (p.Ile961Ser) | |
18 | g.23535650A>G | CA401791502 | NPC1 | c.3296T>C (p.Ile1099Thr) c.51T>C n.51T>C c.2374T>C c.3347T>C (p.Ile1116Thr) c.2882T>C (p.Ile961Thr) | |
18 | g.23535650A>T | CA401791503 | NPC1 | c.3296T>A (p.Ile1099Asn) c.51T>A n.51T>A c.2374T>A c.3347T>A (p.Ile1116Asn) c.2882T>A (p.Ile961Asn) | |
18 | g.23535651T>A | CA401791505 | NPC1 | c.3295A>T (p.Ile1099Phe) c.50A>T n.50A>T c.2373A>T c.3346A>T (p.Ile1116Phe) c.2881A>T (p.Ile961Phe) | |
18 | g.23535651T>C | CA297079240 | NPC1 | c.3295A>G (p.Ile1099Val) c.50A>G n.50A>G c.2373A>G c.3346A>G (p.Ile1116Val) c.2881A>G (p.Ile961Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |