Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23541211_23541307del | CA2641274662 | NPC1 | c.2373+1_2374-1del n.2287+1_2288-1del n.68_164del c.1451+1_1452-1del c.2424+1_2425-1del c.1959+1_1960-1del | gnomAD v4 |
18 | g.23541301C>G | CA2641274674 | NPC1 | c.2373+5G>C (n.2373+5G>C) n.2287+5G>C n.72G>C c.1451+5G>C c.2424+5G>C (n.2424+5G>C) c.1959+5G>C (n.1959+5G>C) | gnomAD v4 |
18 | g.23541302T>C | CA8913135 | NPC1 | c.2373+4A>G (n.2373+4A>G) n.2287+4A>G n.71A>G c.1451+4A>G c.2424+4A>G (n.2424+4A>G) c.1959+4A>G (n.1959+4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23541302T= | CA2290166603 | NPC1 | c.2373+4A= (n.2373+4A=) n.2287+4A= n.71A= c.1451+4A= c.2424+4A= (n.2424+4A=) c.1959+4A= (n.1959+4A=) | |
18 | g.23541303del | CA2641274675 | NPC1 | c.2373+4del (n.2373+4del) n.2287+4del n.71del c.1451+4del c.2424+4del (n.2424+4del) c.1959+4del (n.1959+4del) | gnomAD v4 |
18 | g.23541304A>C | CA401793575 | NPC1 | c.2373+2T>G (n.2373+2T>G) n.2287+2T>G n.69T>G c.1451+2T>G c.2424+2T>G (n.2424+2T>G) c.1959+2T>G (n.1959+2T>G) | |
18 | g.23541304A>G | CA401793574 | NPC1 | c.2373+2T>C (n.2373+2T>C) n.2287+2T>C n.69T>C c.1451+2T>C c.2424+2T>C (n.2424+2T>C) c.1959+2T>C (n.1959+2T>C) | |
18 | g.23541304A>T | CA401793573 | NPC1 | c.2373+2T>A (n.2373+2T>A) n.2287+2T>A n.69T>A c.1451+2T>A c.2424+2T>A (n.2424+2T>A) c.1959+2T>A (n.1959+2T>A) | |
18 | g.23541305C>A | CA401793576 | NPC1 | c.2373+1G>T (n.2373+1G>T) n.2287+1G>T n.68G>T c.1451+1G>T c.2424+1G>T (n.2424+1G>T) c.1959+1G>T (n.1959+1G>T) | |
18 | g.23541305C>G | CA401793577 | NPC1 | c.2373+1G>C (n.2373+1G>C) n.2287+1G>C n.68G>C c.1451+1G>C c.2424+1G>C (n.2424+1G>C) c.1959+1G>C (n.1959+1G>C) | gnomAD v4 |
18 | g.23541305C>T | CA401793578 | NPC1 | c.2373+1G>A (n.2373+1G>A) n.2287+1G>A n.68G>A c.1451+1G>A c.2424+1G>A (n.2424+1G>A) c.1959+1G>A (n.1959+1G>A) | |
18 | g.23541306C>A | CA401793579 | NPC1 | c.2373G>T (p.Glu791Asp) n.2287G>T n.67G>T c.1451G>T c.2424G>T (p.Glu808Asp) c.1959G>T (p.Glu653Asp) | |
18 | g.23541306C>G | CA401793580 | NPC1 | c.2373G>C (p.Glu791Asp) n.2287G>C n.67G>C c.1451G>C c.2424G>C (p.Glu808Asp) c.1959G>C (p.Glu653Asp) | |
18 | g.23541306C>T | CA503521996 | NPC1 | c.2373G>A (p.Glu791=) n.2287G>A n.67G>A c.1451G>A c.2424G>A (p.Glu808=) c.1959G>A (p.Glu653=) | |
18 | g.23541307T>A | CA401793581 | NPC1 | c.2372A>T (p.Glu791Val) n.2286A>T n.66A>T c.1450A>T c.2423A>T (p.Glu808Val) c.1958A>T (p.Glu653Val) | |
18 | g.23541307T>C | CA401793582 | NPC1 | c.2372A>G (p.Glu791Gly) n.2286A>G n.66A>G c.1450A>G c.2423A>G (p.Glu808Gly) c.1958A>G (p.Glu653Gly) | |
18 | g.23541307T>G | CA401793583 | NPC1 | c.2372A>C (p.Glu791Ala) n.2286A>C n.66A>C c.1450A>C c.2423A>C (p.Glu808Ala) c.1958A>C (p.Glu653Ala) | |
18 | g.23541308C>A | CA401793584 | NPC1 | c.2371G>T (p.Glu791Ter) n.2285G>T n.65G>T c.1449G>T c.2422G>T (p.Glu808Ter) c.1957G>T (p.Glu653Ter) | |
18 | g.23541308C= | CA2290166604 | NPC1 | c.2371G= (p.Glu791=) n.2285G= n.65G= c.1449G= c.2422G= (p.Glu808=) c.1957G= (p.Glu653=) | |
18 | g.23541308C>G | CA401793585 | NPC1 | c.2371G>C (p.Glu791Gln) n.2285G>C n.65G>C c.1449G>C c.2422G>C (p.Glu808Gln) c.1957G>C (p.Glu653Gln) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23541308C>T | CA401793586 | NPC1 | c.2371G>A (p.Glu791Lys) n.2285G>A n.65G>A c.1449G>A c.2422G>A (p.Glu808Lys) c.1957G>A (p.Glu653Lys) | gnomAD v4 |
18 | g.23541309T>A | CA401793587 | NPC1 | c.2370A>T (p.Gln790His) n.2284A>T n.64A>T c.1448A>T c.2421A>T (p.Gln807His) c.1956A>T (p.Gln652His) | |
18 | g.23541309T>C | CA503522000 | NPC1 | c.2370A>G (p.Gln790=) n.2284A>G n.64A>G c.1448A>G c.2421A>G (p.Gln807=) c.1956A>G (p.Gln652=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23541309T>G | CA401793588 | NPC1 | c.2370A>C (p.Gln790His) n.2284A>C n.64A>C c.1448A>C c.2421A>C (p.Gln807His) c.1956A>C (p.Gln652His) | |
18 | g.23541309T= | CA2290166605 | NPC1 | c.2370A= (p.Gln790=) n.2284A= n.64A= c.1448A= c.2421A= (p.Gln807=) c.1956A= (p.Gln652=) | |
18 | g.23541310T>A | CA401793590 | NPC1 | c.2369A>T (p.Gln790Leu) n.2283A>T n.63A>T c.1447A>T c.2420A>T (p.Gln807Leu) c.1955A>T (p.Gln652Leu) | |
18 | g.23541310T>C | CA8913136 | NPC1 | c.2369A>G (p.Gln790Arg) n.2283A>G n.63A>G c.1447A>G c.2420A>G (p.Gln807Arg) c.1955A>G (p.Gln652Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23541310T>G | CA401793589 | NPC1 | c.2369A>C (p.Gln790Pro) n.2283A>C n.63A>C c.1447A>C c.2420A>C (p.Gln807Pro) c.1955A>C (p.Gln652Pro) | |
18 | g.23541310T= | CA2290166606 | NPC1 | c.2369A= (p.Gln790=) n.2283A= n.63A= c.1447A= c.2420A= (p.Gln807=) c.1955A= (p.Gln652=) | |
18 | g.23541311G>A | CA401793591 | NPC1 | c.2368C>T (p.Gln790Ter) n.2282C>T n.62C>T c.1446C>T c.2419C>T (p.Gln807Ter) c.1954C>T (p.Gln652Ter) | |
18 | g.23541311G>C | CA401793592 | NPC1 | c.2368C>G (p.Gln790Glu) n.2282C>G n.62C>G c.1446C>G c.2419C>G (p.Gln807Glu) c.1954C>G (p.Gln652Glu) | |
18 | g.23541311G>T | CA401793593 | NPC1 | c.2368C>A (p.Gln790Lys) n.2282C>A n.62C>A c.1446C>A c.2419C>A (p.Gln807Lys) c.1954C>A (p.Gln652Lys) | |
18 | g.23541312A= | CA2290166607 | NPC1 | c.2367T= (p.Arg789=) n.2281T= n.61T= c.1445T= c.2418T= (p.Arg806=) c.1953T= (p.Arg651=) | |
18 | g.23541312A>C | CA503522004 | NPC1 | c.2367T>G (p.Arg789=) n.2281T>G n.61T>G c.1445T>G c.2418T>G (p.Arg806=) c.1953T>G (p.Arg651=) | |
18 | g.23541312A>G | CA503522005 | NPC1 | c.2367T>C (p.Arg789=) n.2281T>C n.61T>C c.1445T>C c.2418T>C (p.Arg806=) c.1953T>C (p.Arg651=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23541312A>T | CA503522006 | NPC1 | c.2367T>A (p.Arg789=) n.2281T>A n.61T>A c.1445T>A c.2418T>A (p.Arg806=) c.1953T>A (p.Arg651=) | |
18 | g.23541313C>A | CA401793594 | NPC1 | c.2366G>T (p.Arg789Leu) n.2280G>T n.60G>T c.1444G>T c.2417G>T (p.Arg806Leu) c.1952G>T (p.Arg651Leu) | dbSNP |
18 | g.23541313C= | CA2290166608 | NPC1 | c.2366G= (p.Arg789=) n.2280G= n.60G= c.1444G= c.2417G= (p.Arg806=) c.1952G= (p.Arg651=) | |
18 | g.23541313C>G | CA401793595 | NPC1 | c.2366G>C (p.Arg789Pro) n.2280G>C n.60G>C c.1444G>C c.2417G>C (p.Arg806Pro) c.1952G>C (p.Arg651Pro) | |
18 | g.23541313C>T | CA269831 | NPC1 | c.2366G>A (p.Arg789His) n.2280G>A n.60G>A c.1444G>A c.2417G>A (p.Arg806His) c.1952G>A (p.Arg651His) | ClinVar dbSNP |
18 | g.23541314G>A | CA401793596 | NPC1 | c.2365C>T (p.Arg789Cys) n.2279C>T n.59C>T c.1443C>T c.2416C>T (p.Arg806Cys) c.1951C>T (p.Arg651Cys) | ClinVar dbSNP gnomAD v4 |
18 | g.23541314G>C | CA401793597 | NPC1 | c.2365C>G (p.Arg789Gly) n.2279C>G n.59C>G c.1443C>G c.2416C>G (p.Arg806Gly) c.1951C>G (p.Arg651Gly) | ClinVar dbSNP gnomAD v4 |
18 | g.23541314G= | CA2290166609 | NPC1 | c.2365C= (p.Arg789=) n.2279C= n.59C= c.1443C= c.2416C= (p.Arg806=) c.1951C= (p.Arg651=) | |
18 | g.23541314G>T | CA401793598 | NPC1 | c.2365C>A (p.Arg789Ser) n.2279C>A n.59C>A c.1443C>A c.2416C>A (p.Arg806Ser) c.1951C>A (p.Arg651Ser) | |
18 | g.23541315T>A | CA401793599 | NPC1 | c.2364A>T (p.Lys788Asn) n.2278A>T n.58A>T c.1442A>T c.2415A>T (p.Lys805Asn) c.1950A>T (p.Lys650Asn) | |
18 | g.23541315T>C | CA503522008 | NPC1 | c.2364A>G (p.Lys788=) n.2278A>G n.58A>G c.1442A>G c.2415A>G (p.Lys805=) c.1950A>G (p.Lys650=) | |
18 | g.23541315T>G | CA401793600 | NPC1 | c.2364A>C (p.Lys788Asn) n.2278A>C n.58A>C c.1442A>C c.2415A>C (p.Lys805Asn) c.1950A>C (p.Lys650Asn) | |
18 | g.23541316T>A | CA401793603 | NPC1 | c.2363A>T (p.Lys788Ile) n.2277A>T n.57A>T c.1441A>T c.2414A>T (p.Lys805Ile) c.1949A>T (p.Lys650Ile) | |
18 | g.23541316T>C | CA401793602 | NPC1 | c.2363A>G (p.Lys788Arg) n.2277A>G n.57A>G c.1441A>G c.2414A>G (p.Lys805Arg) c.1949A>G (p.Lys650Arg) | |
18 | g.23541316T>G | CA401793601 | NPC1 | c.2363A>C (p.Lys788Thr) n.2277A>C n.57A>C c.1441A>C c.2414A>C (p.Lys805Thr) c.1949A>C (p.Lys650Thr) |