Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23539898T>ACA401792819NPC1c.2708A>T (p.Lys903Met)
n.2622A>T
n.499A>T
c.1786A>T
n.1A>T
c.2759A>T (p.Lys920Met)
c.2294A>T (p.Lys765Met)
18g.23539898T>CCA401792820NPC1c.2708A>G (p.Lys903Arg)
n.2622A>G
n.499A>G
c.1786A>G
n.1A>G
c.2759A>G (p.Lys920Arg)
c.2294A>G (p.Lys765Arg)
18g.23539898T>GCA401792821NPC1c.2708A>C (p.Lys903Thr)
n.2622A>C
n.499A>C
c.1786A>C
n.1A>C
c.2759A>C (p.Lys920Thr)
c.2294A>C (p.Lys765Thr)
18g.23539899T>ACA401792822NPC1c.2707A>T (p.Lys903Ter)
n.2621A>T
n.498A>T
c.1785A>T
c.2758A>T (p.Lys920Ter)
c.2293A>T (p.Lys765Ter)
18g.23539899T>CCA401792823NPC1c.2707A>G (p.Lys903Glu)
n.2621A>G
n.498A>G
c.1785A>G
c.2758A>G (p.Lys920Glu)
c.2293A>G (p.Lys765Glu)
18g.23539899T>GCA401792824NPC1c.2707A>C (p.Lys903Gln)
n.2621A>C
n.498A>C
c.1785A>C
c.2758A>C (p.Lys920Gln)
c.2293A>C (p.Lys765Gln)
18g.23539900G>ACA503322635NPC1c.2706C>T (p.Ser902=)
n.2620C>T
n.497C>T
c.1784C>T
c.2757C>T (p.Ser919=)
c.2292C>T (p.Ser764=)
 ClinVar dbSNP gnomAD v4
18g.23539900G>CCA503322636NPC1c.2706C>G (p.Ser902=)
n.2620C>G
n.497C>G
c.1784C>G
c.2757C>G (p.Ser919=)
c.2292C>G (p.Ser764=)
18g.23539900G=CA2290165946NPC1c.2706C= (p.Ser902=)
n.2620C=
n.497C=
c.1784C=
c.2757C= (p.Ser919=)
c.2292C= (p.Ser764=)
18g.23539900G>TCA503322637NPC1c.2706C>A (p.Ser902=)
n.2620C>A
n.497C>A
c.1784C>A
c.2757C>A (p.Ser919=)
c.2292C>A (p.Ser764=)
18g.23539901G>ACA401792825NPC1c.2705C>T (p.Ser902Phe)
n.2619C>T
n.496C>T
c.1783C>T
c.2756C>T (p.Ser919Phe)
c.2291C>T (p.Ser764Phe)
18g.23539901G>CCA8912996NPC1c.2705C>G (p.Ser902Cys)
n.2619C>G
n.496C>G
c.1783C>G
c.2756C>G (p.Ser919Cys)
c.2291C>G (p.Ser764Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539901G=CA2290165947NPC1c.2705C= (p.Ser902=)
n.2619C=
n.496C=
c.1783C=
c.2756C= (p.Ser919=)
c.2291C= (p.Ser764=)
18g.23539901G>TCA401792826NPC1c.2705C>A (p.Ser902Tyr)
n.2619C>A
n.496C>A
c.1783C>A
c.2756C>A (p.Ser919Tyr)
c.2291C>A (p.Ser764Tyr)
18g.23539902A>CCA401792827NPC1c.2704T>G (p.Ser902Ala)
n.2618T>G
n.495T>G
c.1782T>G
c.2755T>G (p.Ser919Ala)
c.2290T>G (p.Ser764Ala)
18g.23539902A>GCA401792828NPC1c.2704T>C (p.Ser902Pro)
n.2618T>C
n.495T>C
c.1782T>C
c.2755T>C (p.Ser919Pro)
c.2290T>C (p.Ser764Pro)
18g.23539902A>TCA401792829NPC1c.2704T>A (p.Ser902Thr)
n.2618T>A
n.495T>A
c.1782T>A
c.2755T>A (p.Ser919Thr)
c.2290T>A (p.Ser764Thr)
18g.23539903A>CCA503322638NPC1c.2703T>G (p.Ser901=)
n.2617T>G
n.494T>G
c.1781T>G
c.2754T>G (p.Ser918=)
c.2289T>G (p.Ser763=)
18g.23539903A>GCA503322639NPC1c.2703T>C (p.Ser901=)
n.2617T>C
n.494T>C
c.1781T>C
c.2754T>C (p.Ser918=)
c.2289T>C (p.Ser763=)
 ClinVar dbSNP
18g.23539903A>TCA503322640NPC1c.2703T>A (p.Ser901=)
n.2617T>A
n.494T>A
c.1781T>A
c.2754T>A (p.Ser918=)
c.2289T>A (p.Ser763=)
18g.23539904G>ACA401792831NPC1c.2702C>T (p.Ser901Phe)
n.2616C>T
n.493C>T
c.1780C>T
c.2753C>T (p.Ser918Phe)
c.2288C>T (p.Ser763Phe)
18g.23539904G>CCA401792832NPC1c.2702C>G (p.Ser901Cys)
n.2616C>G
n.493C>G
c.1780C>G
c.2753C>G (p.Ser918Cys)
c.2288C>G (p.Ser763Cys)
18g.23539904G>TCA401792830NPC1c.2702C>A (p.Ser901Tyr)
n.2616C>A
n.493C>A
c.1780C>A
c.2753C>A (p.Ser918Tyr)
c.2288C>A (p.Ser763Tyr)
 COSMIC COSMIC
18g.23539905A>CCA401792833NPC1c.2701T>G (p.Ser901Ala)
n.2615T>G
n.492T>G
c.1779T>G
c.2752T>G (p.Ser918Ala)
c.2287T>G (p.Ser763Ala)
18g.23539905A>GCA401792834NPC1c.2701T>C (p.Ser901Pro)
n.2615T>C
n.492T>C
c.1779T>C
c.2752T>C (p.Ser918Pro)
c.2287T>C (p.Ser763Pro)
18g.23539905A>TCA401792835NPC1c.2701T>A (p.Ser901Thr)
n.2615T>A
n.492T>A
c.1779T>A
c.2752T>A (p.Ser918Thr)
c.2287T>A (p.Ser763Thr)
18g.23539906A=CA2290165948NPC1c.2700T= (p.Thr900=)
n.2614T=
n.491T=
c.1778T=
c.2751T= (p.Thr917=)
c.2286T= (p.Thr762=)
18g.23539906A>CCA503322641NPC1c.2700T>G (p.Thr900=)
n.2614T>G
n.491T>G
c.1778T>G
c.2751T>G (p.Thr917=)
c.2286T>G (p.Thr762=)
 gnomAD v4
18g.23539906A>GCA8912997NPC1c.2700T>C (p.Thr900=)
n.2614T>C
n.491T>C
c.1778T>C
c.2751T>C (p.Thr917=)
c.2286T>C (p.Thr762=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539906A>TCA503322642NPC1c.2700T>A (p.Thr900=)
n.2614T>A
n.491T>A
c.1778T>A
c.2751T>A (p.Thr917=)
c.2286T>A (p.Thr762=)
18g.23539907G>ACA401792836NPC1c.2699C>T (p.Thr900Ile)
n.2613C>T
n.490C>T
c.1777C>T
c.2750C>T (p.Thr917Ile)
c.2285C>T (p.Thr762Ile)
18g.23539907G>CCA401792837NPC1c.2699C>G (p.Thr900Ser)
n.2613C>G
n.490C>G
c.1777C>G
c.2750C>G (p.Thr917Ser)
c.2285C>G (p.Thr762Ser)
 ClinVar
18g.23539907G>TCA401792838NPC1c.2699C>A (p.Thr900Asn)
n.2613C>A
n.490C>A
c.1777C>A
c.2750C>A (p.Thr917Asn)
c.2285C>A (p.Thr762Asn)
18g.23539908T>ACA401792841NPC1c.2698A>T (p.Thr900Ser)
n.2612A>T
n.489A>T
c.1776A>T
c.2749A>T (p.Thr917Ser)
c.2284A>T (p.Thr762Ser)
18g.23539908T>CCA401792839NPC1c.2698A>G (p.Thr900Ala)
n.2612A>G
n.489A>G
c.1776A>G
c.2749A>G (p.Thr917Ala)
c.2284A>G (p.Thr762Ala)
18g.23539908T>GCA401792840NPC1c.2698A>C (p.Thr900Pro)
n.2612A>C
n.489A>C
c.1776A>C
c.2749A>C (p.Thr917Pro)
c.2284A>C (p.Thr762Pro)
18g.23539909G>ACA503322643NPC1c.2697C>T (p.Tyr899=)
n.2611C>T
n.488C>T
c.1775C>T
c.2748C>T (p.Tyr916=)
c.2283C>T (p.Tyr761=)
18g.23539909G>CCA401792842NPC1c.2697C>G (p.Tyr899Ter)
n.2611C>G
n.488C>G
c.1775C>G
c.2748C>G (p.Tyr916Ter)
c.2283C>G (p.Tyr761Ter)
18g.23539909G>TCA401792843NPC1c.2697C>A (p.Tyr899Ter)
n.2611C>A
n.488C>A
c.1775C>A
c.2748C>A (p.Tyr916Ter)
c.2283C>A (p.Tyr761Ter)
18g.23539910T>ACA401792844NPC1c.2696A>T (p.Tyr899Phe)
n.2610A>T
n.487A>T
c.1774A>T
c.2747A>T (p.Tyr916Phe)
c.2282A>T (p.Tyr761Phe)
18g.23539910T>CCA401792845NPC1c.2696A>G (p.Tyr899Cys)
n.2610A>G
n.487A>G
c.1774A>G
c.2747A>G (p.Tyr916Cys)
c.2282A>G (p.Tyr761Cys)
 gnomAD v4
18g.23539910T>GCA401792846NPC1c.2696A>C (p.Tyr899Ser)
n.2610A>C
n.487A>C
c.1774A>C
c.2747A>C (p.Tyr916Ser)
c.2282A>C (p.Tyr761Ser)
18g.23539911A>CCA401792847NPC1c.2695T>G (p.Tyr899Asp)
n.2609T>G
n.486T>G
c.1773T>G
c.2746T>G (p.Tyr916Asp)
c.2281T>G (p.Tyr761Asp)
18g.23539911A>GCA401792849NPC1c.2695T>C (p.Tyr899His)
n.2609T>C
n.486T>C
c.1773T>C
c.2746T>C (p.Tyr916His)
c.2281T>C (p.Tyr761His)
 ClinVar
18g.23539911A>TCA401792848NPC1c.2695T>A (p.Tyr899Asn)
n.2609T>A
n.486T>A
c.1773T>A
c.2746T>A (p.Tyr916Asn)
c.2281T>A (p.Tyr761Asn)
18g.23539912G>ACA8912998NPC1c.2694C>T (p.Asp898=)
n.2608C>T
n.485C>T
c.1772C>T
c.2745C>T (p.Asp915=)
c.2280C>T (p.Asp760=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539912G>CCA401792850NPC1c.2694C>G (p.Asp898Glu)
n.2608C>G
n.485C>G
c.1772C>G
c.2745C>G (p.Asp915Glu)
c.2280C>G (p.Asp760Glu)
18g.23539912G=CA2290165949NPC1c.2694C= (p.Asp898=)
n.2608C=
n.485C=
c.1772C=
c.2745C= (p.Asp915=)
c.2280C= (p.Asp760=)
18g.23539912G>TCA401792851NPC1c.2694C>A (p.Asp898Glu)
n.2608C>A
n.485C>A
c.1772C>A
c.2745C>A (p.Asp915Glu)
c.2280C>A (p.Asp760Glu)
18g.23539913T>ACA401792852NPC1c.2693A>T (p.Asp898Val)
n.2607A>T
n.484A>T
c.1771A>T
c.2744A>T (p.Asp915Val)
c.2279A>T (p.Asp760Val)
18g.23539913T>CCA401792853NPC1c.2693A>G (p.Asp898Gly)
n.2607A>G
n.484A>G
c.1771A>G
c.2744A>G (p.Asp915Gly)
c.2279A>G (p.Asp760Gly)
18g.23539913T>GCA401792854NPC1c.2693A>C (p.Asp898Ala)
n.2607A>C
n.484A>C
c.1771A>C
c.2744A>C (p.Asp915Ala)
c.2279A>C (p.Asp760Ala)
18g.23539914C>ACA401792855NPC1c.2692G>T (p.Asp898Tyr)
n.2606G>T
n.483G>T
c.1770G>T
c.2743G>T (p.Asp915Tyr)
c.2278G>T (p.Asp760Tyr)
 COSMIC COSMIC
18g.23539914C=CA2290165950NPC1c.2692G= (p.Asp898=)
n.2606G=
n.483G=
c.1770G=
c.2743G= (p.Asp915=)
c.2278G= (p.Asp760=)
18g.23539914C>GCA401792856NPC1c.2692G>C (p.Asp898His)
n.2606G>C
n.483G>C
c.1770G>C
c.2743G>C (p.Asp915His)
c.2278G>C (p.Asp760His)
18g.23539914C>TCA8912999NPC1c.2692G>A (p.Asp898Asn)
n.2606G>A
n.483G>A
c.1770G>A
c.2743G>A (p.Asp915Asn)
c.2278G>A (p.Asp760Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539915G>ACA8913000NPC1c.2691C>T (p.His897=)
n.2605C>T
n.482C>T
c.1769C>T
c.2742C>T (p.His914=)
c.2277C>T (p.His759=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539915G>CCA401792857NPC1c.2691C>G (p.His897Gln)
n.2605C>G
n.482C>G
c.1769C>G
c.2742C>G (p.His914Gln)
c.2277C>G (p.His759Gln)
18g.23539915G=CA2290165951NPC1c.2691C= (p.His897=)
n.2605C=
n.482C=
c.1769C=
c.2742C= (p.His914=)
c.2277C= (p.His759=)
18g.23539915G>TCA401792858NPC1c.2691C>A (p.His897Gln)
n.2605C>A
n.482C>A
c.1769C>A
c.2742C>A (p.His914Gln)
c.2277C>A (p.His759Gln)
18g.23539916T>ACA401792859NPC1c.2690A>T (p.His897Leu)
n.2604A>T
n.481A>T
c.1768A>T
c.2741A>T (p.His914Leu)
c.2276A>T (p.His759Leu)
18g.23539916T>CCA401792861NPC1c.2690A>G (p.His897Arg)
n.2604A>G
n.481A>G
c.1768A>G
c.2741A>G (p.His914Arg)
c.2276A>G (p.His759Arg)
18g.23539916T>GCA401792860NPC1c.2690A>C (p.His897Pro)
n.2604A>C
n.481A>C
c.1768A>C
c.2741A>C (p.His914Pro)
c.2276A>C (p.His759Pro)
18g.23539917G>ACA401792862NPC1c.2689C>T (p.His897Tyr)
n.2603C>T
n.480C>T
c.1767C>T
c.2740C>T (p.His914Tyr)
c.2275C>T (p.His759Tyr)
 dbSNP gnomAD v2 gnomAD v4
18g.23539917G>CCA401792863NPC1c.2689C>G (p.His897Asp)
n.2603C>G
n.480C>G
c.1767C>G
c.2740C>G (p.His914Asp)
c.2275C>G (p.His759Asp)
18g.23539917G=CA2290165952NPC1c.2689C= (p.His897=)
n.2603C=
n.480C=
c.1767C=
c.2740C= (p.His914=)
c.2275C= (p.His759=)
18g.23539917G>TCA401792864NPC1c.2689C>A (p.His897Asn)
n.2603C>A
n.480C>A
c.1767C>A
c.2740C>A (p.His914Asn)
c.2275C>A (p.His759Asn)
18g.23539918C>ACA503322646NPC1c.2688G>T (p.Gly896=)
n.2602G>T
n.479G>T
c.1766G>T
c.2739G>T (p.Gly913=)
c.2274G>T (p.Gly758=)
18g.23539918C=CA2290165953NPC1c.2688G= (p.Gly896=)
n.2602G=
n.479G=
c.1766G=
c.2739G= (p.Gly913=)
c.2274G= (p.Gly758=)
18g.23539918C>GCA503322644NPC1c.2688G>C (p.Gly896=)
n.2602G>C
n.479G>C
c.1766G>C
c.2739G>C (p.Gly913=)
c.2274G>C (p.Gly758=)
18g.23539918C>TCA503322645NPC1c.2688G>A (p.Gly896=)
n.2602G>A
n.479G>A
c.1766G>A
c.2739G>A (p.Gly913=)
c.2274G>A (p.Gly758=)
 dbSNP
18g.23539919C>ACA401792865NPC1c.2687G>T (p.Gly896Val)
n.2601G>T
n.478G>T
c.1765G>T
c.2738G>T (p.Gly913Val)
c.2273G>T (p.Gly758Val)
18g.23539919C>GCA401792866NPC1c.2687G>C (p.Gly896Ala)
n.2601G>C
n.478G>C
c.1765G>C
c.2738G>C (p.Gly913Ala)
c.2273G>C (p.Gly758Ala)
18g.23539919C>TCA401792867NPC1c.2687G>A (p.Gly896Glu)
n.2601G>A
n.478G>A
c.1765G>A
c.2738G>A (p.Gly913Glu)
c.2273G>A (p.Gly758Glu)
18g.23539920C>ACA401792870NPC1c.2686G>T (p.Gly896Trp)
n.2600G>T
n.477G>T
c.1764G>T
c.2737G>T (p.Gly913Trp)
c.2272G>T (p.Gly758Trp)
 gnomAD v4
18g.23539920C>GCA401792868NPC1c.2686G>C (p.Gly896Arg)
n.2600G>C
n.477G>C
c.1764G>C
c.2737G>C (p.Gly913Arg)
c.2272G>C (p.Gly758Arg)
18g.23539920C>TCA401792869NPC1c.2686G>A (p.Gly896Arg)
n.2600G>A
n.477G>A
c.1764G>A
c.2737G>A (p.Gly913Arg)
c.2272G>A (p.Gly758Arg)
18g.23539921T>ACA401792871NPC1c.2685A>T (p.Glu895Asp)
n.2599A>T
n.476A>T
c.1763A>T
c.2736A>T (p.Glu912Asp)
c.2271A>T (p.Glu757Asp)
18g.23539921T>CCA503322647NPC1c.2685A>G (p.Glu895=)
n.2599A>G
n.476A>G
c.1763A>G
c.2736A>G (p.Glu912=)
c.2271A>G (p.Glu757=)
 ClinVar dbSNP
18g.23539921T>GCA401792872NPC1c.2685A>C (p.Glu895Asp)
n.2599A>C
n.476A>C
c.1763A>C
c.2736A>C (p.Glu912Asp)
c.2271A>C (p.Glu757Asp)
18g.23539922dupCA913014995NPC1c.2685dup (p.Gly896ArgfsTer22)
n.2599dup
n.476dup
c.1763dup
c.2736dup (p.Gly913ArgfsTer22)
c.2271dup (p.Gly758ArgfsTer22)
18g.23539922T>ACA401792873NPC1c.2684A>T (p.Glu895Val)
n.2598A>T
n.475A>T
c.1762A>T
c.2735A>T (p.Glu912Val)
c.2270A>T (p.Glu757Val)
18g.23539922T>CCA401792874NPC1c.2684A>G (p.Glu895Gly)
n.2598A>G
n.475A>G
c.1762A>G
c.2735A>G (p.Glu912Gly)
c.2270A>G (p.Glu757Gly)
18g.23539922T>GCA401792875NPC1c.2684A>C (p.Glu895Ala)
n.2598A>C
n.475A>C
c.1762A>C
c.2735A>C (p.Glu912Ala)
c.2270A>C (p.Glu757Ala)
18g.23539922T=CA2290165954NPC1c.2684A= (p.Glu895=)
n.2598A=
n.475A=
c.1762A=
c.2735A= (p.Glu912=)
c.2270A= (p.Glu757=)
18g.23539923C>ACA401792876NPC1c.2683G>T (p.Glu895Ter)
n.2597G>T
n.474G>T
c.1761G>T
c.2734G>T (p.Glu912Ter)
c.2269G>T (p.Glu757Ter)
 ClinVar dbSNP
18g.23539923C>GCA401792878NPC1c.2683G>C (p.Glu895Gln)
n.2597G>C
n.474G>C
c.1761G>C
c.2734G>C (p.Glu912Gln)
c.2269G>C (p.Glu757Gln)
18g.23539923C>TCA401792877NPC1c.2683G>A (p.Glu895Lys)
n.2597G>A
n.474G>A
c.1761G>A
c.2734G>A (p.Glu912Lys)
c.2269G>A (p.Glu757Lys)
 ClinVar COSMIC
18g.23539924dupCA658824817NPC1c.2683dup (p.Glu895GlyfsTer23)
n.2597dup
n.474dup
c.1761dup
c.2734dup (p.Glu912GlyfsTer23)
c.2269dup (p.Glu757GlyfsTer23)
 ClinVar dbSNP gnomAD v4
18g.23539923_23539924dupCA2576470635NPC1c.2682_2683dup (p.Glu895GlyfsTer?)
n.2596_2597dup
n.473_474dup
c.1760_1761dup
c.2733_2734dup (p.Glu912GlyfsTer?)
c.2268_2269dup (p.Glu757GlyfsTer?)
18g.23539924C>ACA401792879NPC1c.2682G>T (p.Glu894Asp)
n.2596G>T
n.473G>T
c.1760G>T
c.2733G>T (p.Glu911Asp)
c.2268G>T (p.Glu756Asp)
18g.23539924C>GCA401792880NPC1c.2682G>C (p.Glu894Asp)
n.2596G>C
n.473G>C
c.1760G>C
c.2733G>C (p.Glu911Asp)
c.2268G>C (p.Glu756Asp)
18g.23539924C>TCA503322648NPC1c.2682G>A (p.Glu894=)
n.2596G>A
n.473G>A
c.1760G>A
c.2733G>A (p.Glu911=)
c.2268G>A (p.Glu756=)
 ClinVar gnomAD v4
18g.23539925T>ACA401792881NPC1c.2681A>T (p.Glu894Val)
n.2595A>T
n.472A>T
c.1759A>T
c.2732A>T (p.Glu911Val)
c.2267A>T (p.Glu756Val)
18g.23539925T>CCA401792882NPC1c.2681A>G (p.Glu894Gly)
n.2595A>G
n.472A>G
c.1759A>G
c.2732A>G (p.Glu911Gly)
c.2267A>G (p.Glu756Gly)
18g.23539925T>GCA401792883NPC1c.2681A>C (p.Glu894Ala)
n.2595A>C
n.472A>C
c.1759A>C
c.2732A>C (p.Glu911Ala)
c.2267A>C (p.Glu756Ala)
18g.23539926C>ACA401792884NPC1c.2680G>T (p.Glu894Ter)
n.2594G>T
n.471G>T
c.1758G>T
c.2731G>T (p.Glu911Ter)
c.2266G>T (p.Glu756Ter)
18g.23539926C>GCA401792885NPC1c.2680G>C (p.Glu894Gln)
n.2594G>C
n.471G>C
c.1758G>C
c.2731G>C (p.Glu911Gln)
c.2266G>C (p.Glu756Gln)
18g.23539926C>TCA401792886NPC1c.2680G>A (p.Glu894Lys)
n.2594G>A
n.471G>A
c.1758G>A
c.2731G>A (p.Glu911Lys)
c.2266G>A (p.Glu756Lys)
18g.23539927C>ACA503322649NPC1c.2679G>T (p.Leu893=)
n.2593G>T
n.470G>T
c.1757G>T
c.2730G>T (p.Leu910=)
c.2265G>T (p.Leu755=)
18g.23539927C=CA2290165955NPC1c.2679G= (p.Leu893=)
n.2593G=
n.470G=
c.1757G=
c.2730G= (p.Leu910=)
c.2265G= (p.Leu755=)
18g.23539927C>GCA503322650NPC1c.2679G>C (p.Leu893=)
n.2593G>C
n.470G>C
c.1757G>C
c.2730G>C (p.Leu910=)
c.2265G>C (p.Leu755=)
18g.23539927C>TCA503322651NPC1c.2679G>A (p.Leu893=)
n.2593G>A
n.470G>A
c.1757G>A
c.2730G>A (p.Leu910=)
c.2265G>A (p.Leu755=)
18g.23539928A>CCA401792887NPC1c.2678T>G (p.Leu893Arg)
n.2592T>G
n.469T>G
c.1756T>G
c.2729T>G (p.Leu910Arg)
c.2264T>G (p.Leu755Arg)
18g.23539928A>GCA401792888NPC1c.2678T>C (p.Leu893Pro)
n.2592T>C
n.469T>C
c.1756T>C
c.2729T>C (p.Leu910Pro)
c.2264T>C (p.Leu755Pro)
18g.23539928A>TCA401792889NPC1c.2678T>A (p.Leu893Gln)
n.2592T>A
n.469T>A
c.1756T>A
c.2729T>A (p.Leu910Gln)
c.2264T>A (p.Leu755Gln)
18g.23539928dupCA628978766NPC1c.2678dup (p.Glu894GlyfsTer24)
n.2592dup
n.469dup
c.1756dup
c.2729dup (p.Glu911GlyfsTer24)
c.2264dup (p.Glu756GlyfsTer24)
 dbSNP gnomAD v2 gnomAD v4
18g.23539929G>ACA10606616NPC1c.2677C>T (p.Leu893=)
n.2591C>T
n.468C>T
c.1755C>T
c.2728C>T (p.Leu910=)
c.2263C>T (p.Leu755=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539929G>CCA401792890NPC1c.2677C>G (p.Leu893Val)
n.2591C>G
n.468C>G
c.1755C>G
c.2728C>G (p.Leu910Val)
c.2263C>G (p.Leu755Val)
18g.23539929G=CA2290165956NPC1c.2677C= (p.Leu893=)
n.2591C=
n.468C=
c.1755C=
c.2728C= (p.Leu910=)
c.2263C= (p.Leu755=)
18g.23539929G>TCA8913001NPC1c.2677C>A (p.Leu893Met)
n.2591C>A
n.468C>A
c.1755C>A
c.2728C>A (p.Leu910Met)
c.2263C>A (p.Leu755Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539930G>ACA503322652NPC1c.2676C>T (p.Val892=)
n.2590C>T
n.467C>T
c.1754C>T
c.2727C>T (p.Val909=)
c.2262C>T (p.Val754=)
18g.23539930G>CCA503322653NPC1c.2676C>G (p.Val892=)
n.2590C>G
n.467C>G
c.1754C>G
c.2727C>G (p.Val909=)
c.2262C>G (p.Val754=)
18g.23539930G>TCA503322654NPC1c.2676C>A (p.Val892=)
n.2590C>A
n.467C>A
c.1754C>A
c.2727C>A (p.Val909=)
c.2262C>A (p.Val754=)
18g.23539931A>CCA401792891NPC1c.2675T>G (p.Val892Gly)
n.2589T>G
n.466T>G
c.1753T>G
c.2726T>G (p.Val909Gly)
c.2261T>G (p.Val754Gly)
18g.23539931A>GCA401792893NPC1c.2675T>C (p.Val892Ala)
n.2589T>C
n.466T>C
c.1753T>C
c.2726T>C (p.Val909Ala)
c.2261T>C (p.Val754Ala)
18g.23539931A>TCA401792892NPC1c.2675T>A (p.Val892Asp)
n.2589T>A
n.466T>A
c.1753T>A
c.2726T>A (p.Val909Asp)
c.2261T>A (p.Val754Asp)
18g.23539932C>ACA401792894NPC1c.2674G>T (p.Val892Phe)
n.2588G>T
n.465G>T
c.1752G>T
c.2725G>T (p.Val909Phe)
c.2260G>T (p.Val754Phe)
18g.23539932C>GCA401792896NPC1c.2674G>C (p.Val892Leu)
n.2588G>C
n.465G>C
c.1752G>C
c.2725G>C (p.Val909Leu)
c.2260G>C (p.Val754Leu)
 ClinVar dbSNP
18g.23539932C>TCA401792895NPC1c.2674G>A (p.Val892Ile)
n.2588G>A
n.465G>A
c.1752G>A
c.2725G>A (p.Val909Ile)
c.2260G>A (p.Val754Ile)
 ClinVar
18g.23539933A>CCA401792897NPC1c.2673T>G (p.Phe891Leu)
n.2587T>G
n.464T>G
c.1751T>G
c.2724T>G (p.Phe908Leu)
c.2259T>G (p.Phe753Leu)
18g.23539933A>GCA503322655NPC1c.2673T>C (p.Phe891=)
n.2587T>C
n.464T>C
c.1751T>C
c.2724T>C (p.Phe908=)
c.2259T>C (p.Phe753=)
 ClinVar dbSNP gnomAD v4
18g.23539933A>TCA401792898NPC1c.2673T>A (p.Phe891Leu)
n.2587T>A
n.464T>A
c.1751T>A
c.2724T>A (p.Phe908Leu)
c.2259T>A (p.Phe753Leu)
18g.23539934A>CCA401792899NPC1c.2672T>G (p.Phe891Cys)
n.2586T>G
n.463T>G
c.1750T>G
c.2723T>G (p.Phe908Cys)
c.2258T>G (p.Phe753Cys)
18g.23539934A>GCA401792901NPC1c.2672T>C (p.Phe891Ser)
n.2586T>C
n.463T>C
c.1750T>C
c.2723T>C (p.Phe908Ser)
c.2258T>C (p.Phe753Ser)
18g.23539934A>TCA401792900NPC1c.2672T>A (p.Phe891Tyr)
n.2586T>A
n.463T>A
c.1750T>A
c.2723T>A (p.Phe908Tyr)
c.2258T>A (p.Phe753Tyr)
18g.23539935A>CCA401792902NPC1c.2671T>G (p.Phe891Val)
n.2585T>G
n.462T>G
c.1749T>G
c.2722T>G (p.Phe908Val)
c.2257T>G (p.Phe753Val)
18g.23539935A>GCA401792904NPC1c.2671T>C (p.Phe891Leu)
n.2585T>C
n.462T>C
c.1749T>C
c.2722T>C (p.Phe908Leu)
c.2257T>C (p.Phe753Leu)
18g.23539935A>TCA401792903NPC1c.2671T>A (p.Phe891Ile)
n.2585T>A
n.462T>A
c.1749T>A
c.2722T>A (p.Phe908Ile)
c.2257T>A (p.Phe753Ile)
18g.23539936G>ACA8913002NPC1c.2670C>T (p.Tyr890=)
n.2584C>T
n.461C>T
c.1748C>T
c.2721C>T (p.Tyr907=)
c.2256C>T (p.Tyr752=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539936G>CCA8913003NPC1c.2670C>G (p.Tyr890Ter)
n.2584C>G
n.461C>G
c.1748C>G
c.2721C>G (p.Tyr907Ter)
c.2256C>G (p.Tyr752Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539936G=CA2290165957NPC1c.2670C= (p.Tyr890=)
n.2584C=
n.461C=
c.1748C=
c.2721C= (p.Tyr907=)
c.2256C= (p.Tyr752=)
18g.23539936G>TCA401792905NPC1c.2670C>A (p.Tyr890Ter)
n.2584C>A
n.461C>A
c.1748C>A
c.2721C>A (p.Tyr907Ter)
c.2256C>A (p.Tyr752Ter)
 ClinVar dbSNP
18g.23539937T>ACA401792906NPC1c.2669A>T (p.Tyr890Phe)
n.2583A>T
n.460A>T
c.1747A>T
c.2720A>T (p.Tyr907Phe)
c.2255A>T (p.Tyr752Phe)
18g.23539937T>CCA401792907NPC1c.2669A>G (p.Tyr890Cys)
n.2583A>G
n.460A>G
c.1747A>G
c.2720A>G (p.Tyr907Cys)
c.2255A>G (p.Tyr752Cys)
 gnomAD v4
18g.23539937T>GCA401792908NPC1c.2669A>C (p.Tyr890Ser)
n.2583A>C
n.460A>C
c.1747A>C
c.2720A>C (p.Tyr907Ser)
c.2255A>C (p.Tyr752Ser)
18g.23539938A>CCA401792909NPC1c.2668T>G (p.Tyr890Asp)
n.2582T>G
n.459T>G
c.1746T>G
c.2719T>G (p.Tyr907Asp)
c.2254T>G (p.Tyr752Asp)
18g.23539938A>GCA401792910NPC1c.2668T>C (p.Tyr890His)
n.2582T>C
n.459T>C
c.1746T>C
c.2719T>C (p.Tyr907His)
c.2254T>C (p.Tyr752His)
18g.23539938A>TCA401792911NPC1c.2668T>A (p.Tyr890Asn)
n.2582T>A
n.459T>A
c.1746T>A
c.2719T>A (p.Tyr907Asn)
c.2254T>A (p.Tyr752Asn)
18g.23539939C>ACA503322656NPC1c.2667G>T (p.Val889=)
n.2581G>T
n.458G>T
c.1745G>T
c.2718G>T (p.Val906=)
c.2253G>T (p.Val751=)
18g.23539939C=CA2290165958NPC1c.2667G= (p.Val889=)
n.2581G=
n.458G=
c.1745G=
c.2718G= (p.Val906=)
c.2253G= (p.Val751=)
18g.23539939C>GCA503322657NPC1c.2667G>C (p.Val889=)
n.2581G>C
n.458G>C
c.1745G>C
c.2718G>C (p.Val906=)
c.2253G>C (p.Val751=)
18g.23539939C>TCA8913004NPC1c.2667G>A (p.Val889=)
n.2581G>A
n.458G>A
c.1745G>A
c.2718G>A (p.Val906=)
c.2253G>A (p.Val751=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539940A>CCA401792912NPC1c.2666T>G (p.Val889Gly)
n.2580T>G
n.457T>G
c.1744T>G
c.2717T>G (p.Val906Gly)
c.2252T>G (p.Val751Gly)
18g.23539940A>GCA401792913NPC1c.2666T>C (p.Val889Ala)
n.2580T>C
n.457T>C
c.1744T>C
c.2717T>C (p.Val906Ala)
c.2252T>C (p.Val751Ala)
18g.23539940A>TCA401792914NPC1c.2666T>A (p.Val889Glu)
n.2580T>A
n.457T>A
c.1744T>A
c.2717T>A (p.Val906Glu)
c.2252T>A (p.Val751Glu)
18g.23539941C>ACA401792916NPC1c.2665G>T (p.Val889Leu)
n.2579G>T
n.456G>T
c.1743G>T
c.2716G>T (p.Val906Leu)
c.2251G>T (p.Val751Leu)
18g.23539941C=CA2290165959NPC1c.2665G= (p.Val889=)
n.2579G=
n.456G=
c.1743G=
c.2716G= (p.Val906=)
c.2251G= (p.Val751=)
18g.23539941C>GCA401792915NPC1c.2665G>C (p.Val889Leu)
n.2579G>C
n.456G>C
c.1743G>C
c.2716G>C (p.Val906Leu)
c.2251G>C (p.Val751Leu)
18g.23539941C>TCA115896NPC1c.2665G>A (p.Val889Met)
n.2579G>A
n.456G>A
c.1743G>A
c.2716G>A (p.Val906Met)
c.2251G>A (p.Val751Met)
 ClinVar dbSNP
18g.23539942A=CA2290165960NPC1c.2664T= (p.Pro888=)
n.2578T=
n.455T=
c.1742T=
c.2715T= (p.Pro905=)
c.2250T= (p.Pro750=)
18g.23539942A>CCA503322658NPC1c.2664T>G (p.Pro888=)
n.2578T>G
n.455T>G
c.1742T>G
c.2715T>G (p.Pro905=)
c.2250T>G (p.Pro750=)
18g.23539942A>GCA8913005NPC1c.2664T>C (p.Pro888=)
n.2578T>C
n.455T>C
c.1742T>C
c.2715T>C (p.Pro905=)
c.2250T>C (p.Pro750=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539942A>TCA503322659NPC1c.2664T>A (p.Pro888=)
n.2578T>A
n.455T>A
c.1742T>A
c.2715T>A (p.Pro905=)
c.2250T>A (p.Pro750=)
18g.23539942dupCA1139665982NPC1c.2664dup (p.Val889CysfsTer29)
n.2578dup
n.455dup
c.1742dup
c.2715dup (p.Val906CysfsTer29)
c.2250dup (p.Val751CysfsTer29)
 ClinVar dbSNP
18g.23539943G>ACA401792917NPC1c.2663C>T (p.Pro888Leu)
n.2577C>T
n.454C>T
c.1741C>T
c.2714C>T (p.Pro905Leu)
c.2249C>T (p.Pro750Leu)
18g.23539943G>CCA401792918NPC1c.2663C>G (p.Pro888Arg)
n.2577C>G
n.454C>G
c.1741C>G
c.2714C>G (p.Pro905Arg)
c.2249C>G (p.Pro750Arg)
18g.23539943G>TCA401792919NPC1c.2663C>A (p.Pro888His)
n.2577C>A
n.454C>A
c.1741C>A
c.2714C>A (p.Pro905His)
c.2249C>A (p.Pro750His)
 COSMIC
18g.23539944G>ACA401792920NPC1c.2662C>T (p.Pro888Ser)
n.2576C>T
n.453C>T
c.1740C>T
c.2713C>T (p.Pro905Ser)
c.2248C>T (p.Pro750Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23539944G>CCA401792921NPC1c.2662C>G (p.Pro888Ala)
n.2576C>G
n.453C>G
c.1740C>G
c.2713C>G (p.Pro905Ala)
c.2248C>G (p.Pro750Ala)
18g.23539944G=CA2290165961NPC1c.2662C= (p.Pro888=)
n.2576C=
n.453C=
c.1740C=
c.2713C= (p.Pro905=)
c.2248C= (p.Pro750=)
18g.23539944G>TCA401792922NPC1c.2662C>A (p.Pro888Thr)
n.2576C>A
n.453C>A
c.1740C>A
c.2713C>A (p.Pro905Thr)
c.2248C>A (p.Pro750Thr)
18g.23539945C>ACA503322660NPC1c.2661G>T (p.Pro887=)
n.2575G>T
n.452G>T
c.1739G>T
c.2712G>T (p.Pro904=)
c.2247G>T (p.Pro749=)
 dbSNP gnomAD v2 gnomAD v4
18g.23539945C=CA2290165962NPC1c.2661G= (p.Pro887=)
n.2575G=
n.452G=
c.1739G=
c.2712G= (p.Pro904=)
c.2247G= (p.Pro749=)
18g.23539945C>GCA503322661NPC1c.2661G>C (p.Pro887=)
n.2575G>C
n.452G>C
c.1739G>C
c.2712G>C (p.Pro904=)
c.2247G>C (p.Pro749=)
18g.23539945C>TCA8913006NPC1c.2661G>A (p.Pro887=)
n.2575G>A
n.452G>A
c.1739G>A
c.2712G>A (p.Pro904=)
c.2247G>A (p.Pro749=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539946G>ACA401792923NPC1c.2660C>T (p.Pro887Leu)
n.2574C>T
n.451C>T
c.1738C>T
c.2711C>T (p.Pro904Leu)
c.2246C>T (p.Pro749Leu)
 ClinVar dbSNP gnomAD v4
18g.23539946G>CCA401792924NPC1c.2660C>G (p.Pro887Arg)
n.2574C>G
n.451C>G
c.1738C>G
c.2711C>G (p.Pro904Arg)
c.2246C>G (p.Pro749Arg)
18g.23539946G=CA2290165963NPC1c.2660C= (p.Pro887=)
n.2574C=
n.451C=
c.1738C=
c.2711C= (p.Pro904=)
c.2246C= (p.Pro749=)
18g.23539946G>TCA401792925NPC1c.2660C>A (p.Pro887Gln)
n.2574C>A
n.451C>A
c.1738C>A
c.2711C>A (p.Pro904Gln)
c.2246C>A (p.Pro749Gln)
18g.23539947G>ACA401792926NPC1c.2659C>T (p.Pro887Ser)
n.2573C>T
n.450C>T
c.1737C>T
c.2710C>T (p.Pro904Ser)
c.2245C>T (p.Pro749Ser)
18g.23539947G>CCA401792927NPC1c.2659C>G (p.Pro887Ala)
n.2573C>G
n.450C>G
c.1737C>G
c.2710C>G (p.Pro904Ala)
c.2245C>G (p.Pro749Ala)
18g.23539947G>TCA401792928NPC1c.2659C>A (p.Pro887Thr)
n.2573C>A
n.450C>A
c.1737C>A
c.2710C>A (p.Pro904Thr)
c.2245C>A (p.Pro749Thr)
18g.23539948A>CCA503322662NPC1c.2658T>G (p.Gly886=)
n.2572T>G
n.449T>G
c.1736T>G
c.2709T>G (p.Gly903=)
c.2244T>G (p.Gly748=)
18g.23539948A>GCA503322664NPC1c.2658T>C (p.Gly886=)
n.2572T>C
n.449T>C
c.1736T>C
c.2709T>C (p.Gly903=)
c.2244T>C (p.Gly748=)
18g.23539948A>TCA503322663NPC1c.2658T>A (p.Gly886=)
n.2572T>A
n.449T>A
c.1736T>A
c.2709T>A (p.Gly903=)
c.2244T>A (p.Gly748=)
18g.23539949C>ACA401792931NPC1c.2657G>T (p.Gly886Val)
n.2571G>T
n.448G>T
c.1735G>T
c.2708G>T (p.Gly903Val)
c.2243G>T (p.Gly748Val)
18g.23539949C>GCA401792930NPC1c.2657G>C (p.Gly886Ala)
n.2571G>C
n.448G>C
c.1735G>C
c.2708G>C (p.Gly903Ala)
c.2243G>C (p.Gly748Ala)
18g.23539949C>TCA401792929NPC1c.2657G>A (p.Gly886Asp)
n.2571G>A
n.448G>A
c.1735G>A
c.2708G>A (p.Gly903Asp)
c.2243G>A (p.Gly748Asp)
18g.23539950C>ACA401792932NPC1c.2656G>T (p.Gly886Cys)
n.2570G>T
n.447G>T
c.1734G>T
c.2707G>T (p.Gly903Cys)
c.2242G>T (p.Gly748Cys)
 gnomAD v4
18g.23539950C>GCA401792933NPC1c.2656G>C (p.Gly886Arg)
n.2570G>C
n.447G>C
c.1734G>C
c.2707G>C (p.Gly903Arg)
c.2242G>C (p.Gly748Arg)
 gnomAD v4
18g.23539950C>TCA401792934NPC1c.2656G>A (p.Gly886Ser)
n.2570G>A
n.447G>A
c.1734G>A
c.2707G>A (p.Gly903Ser)
c.2242G>A (p.Gly748Ser)
18g.23539951C>ACA503322665NPC1c.2655G>T (p.Ala885=)
n.2569G>T
n.446G>T
c.1733G>T
c.2706G>T (p.Ala902=)
c.2241G>T (p.Ala747=)
18g.23539951C=CA2290165964NPC1c.2655G= (p.Ala885=)
n.2569G=
n.446G=
c.1733G=
c.2706G= (p.Ala902=)
c.2241G= (p.Ala747=)
18g.23539951C>GCA503322666NPC1c.2655G>C (p.Ala885=)
n.2569G>C
n.446G>C
c.1733G>C
c.2706G>C (p.Ala902=)
c.2241G>C (p.Ala747=)
 gnomAD v4
18g.23539951C>TCA297081478NPC1c.2655G>A (p.Ala885=)
n.2569G>A
n.446G>A
c.1733G>A
c.2706G>A (p.Ala902=)
c.2241G>A (p.Ala747=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23539952G>ACA8913007NPC1c.2654C>T (p.Ala885Val)
n.2568C>T
n.445C>T
c.1732C>T
c.2705C>T (p.Ala902Val)
c.2240C>T (p.Ala747Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539952G>CCA401792935NPC1c.2654C>G (p.Ala885Gly)
n.2568C>G
n.445C>G
c.1732C>G
c.2705C>G (p.Ala902Gly)
c.2240C>G (p.Ala747Gly)
18g.23539952G=CA2290165965NPC1c.2654C= (p.Ala885=)
n.2568C=
n.445C=
c.1732C=
c.2705C= (p.Ala902=)
c.2240C= (p.Ala747=)
18g.23539952G>TCA401792936NPC1c.2654C>A (p.Ala885Glu)
n.2568C>A
n.445C>A
c.1732C>A
c.2705C>A (p.Ala902Glu)
c.2240C>A (p.Ala747Glu)
18g.23539953C>ACA401792937NPC1c.2653G>T (p.Ala885Ser)
n.2567G>T
n.444G>T
c.1731G>T
c.2704G>T (p.Ala902Ser)
c.2239G>T (p.Ala747Ser)
18g.23539953C>GCA401792938NPC1c.2653G>C (p.Ala885Pro)
n.2567G>C
n.444G>C
c.1731G>C
c.2704G>C (p.Ala902Pro)
c.2239G>C (p.Ala747Pro)
18g.23539953C>TCA401792939NPC1c.2653G>A (p.Ala885Thr)
n.2567G>A
n.444G>A
c.1731G>A
c.2704G>A (p.Ala902Thr)
c.2239G>A (p.Ala747Thr)
18g.23539954A=CA2290165966NPC1c.2652T= (p.His884=)
n.2566T=
n.443T=
c.1730T=
c.2703T= (p.His901=)
c.2238T= (p.His746=)
18g.23539954A>CCA401792940NPC1c.2652T>G (p.His884Gln)
n.2566T>G
n.443T>G
c.1730T>G
c.2703T>G (p.His901Gln)
c.2238T>G (p.His746Gln)
18g.23539954A>GCA8913008NPC1c.2652T>C (p.His884=)
n.2566T>C
n.443T>C
c.1730T>C
c.2703T>C (p.His901=)
c.2238T>C (p.His746=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539954A>TCA401792941NPC1c.2652T>A (p.His884Gln)
n.2566T>A
n.443T>A
c.1730T>A
c.2703T>A (p.His901Gln)
c.2238T>A (p.His746Gln)
18g.23539955T>ACA401792944NPC1c.2651A>T (p.His884Leu)
n.2565A>T
n.442A>T
c.1729A>T
c.2702A>T (p.His901Leu)
c.2237A>T (p.His746Leu)
18g.23539955T>CCA401792943NPC1c.2651A>G (p.His884Arg)
n.2565A>G
n.442A>G
c.1729A>G
c.2702A>G (p.His901Arg)
c.2237A>G (p.His746Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.23539955T>GCA401792942NPC1c.2651A>C (p.His884Pro)
n.2565A>C
n.442A>C
c.1729A>C
c.2702A>C (p.His901Pro)
c.2237A>C (p.His746Pro)
18g.23539955T=CA2290165967NPC1c.2651A= (p.His884=)
n.2565A=
n.442A=
c.1729A=
c.2702A= (p.His901=)
c.2237A= (p.His746=)
18g.23539956G>ACA401792945NPC1c.2650C>T (p.His884Tyr)
n.2564C>T
n.441C>T
c.1728C>T
c.2701C>T (p.His901Tyr)
c.2236C>T (p.His746Tyr)
18g.23539956G>CCA401792946NPC1c.2650C>G (p.His884Asp)
n.2564C>G
n.441C>G
c.1728C>G
c.2701C>G (p.His901Asp)
c.2236C>G (p.His746Asp)
18g.23539956G>TCA401792947NPC1c.2650C>A (p.His884Asn)
n.2564C>A
n.441C>A
c.1728C>A
c.2701C>A (p.His901Asn)
c.2236C>A (p.His746Asn)
18g.23539957C>ACA503322667NPC1c.2649G>T (p.Leu883=)
n.2563G>T
n.440G>T
c.1727G>T
c.2700G>T (p.Leu900=)
c.2235G>T (p.Leu745=)
18g.23539957C=CA2290165968NPC1c.2649G= (p.Leu883=)
n.2563G=
n.440G=
c.1727G=
c.2700G= (p.Leu900=)
c.2235G= (p.Leu745=)
18g.23539957C>GCA503322668NPC1c.2649G>C (p.Leu883=)
n.2563G>C
n.440G>C
c.1727G>C
c.2700G>C (p.Leu900=)
c.2235G>C (p.Leu745=)
18g.23539957C>TCA503322669NPC1c.2649G>A (p.Leu883=)
n.2563G>A
n.440G>A
c.1727G>A
c.2700G>A (p.Leu900=)
c.2235G>A (p.Leu745=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23539958A>CCA401792948NPC1c.2648T>G (p.Leu883Arg)
n.2562T>G
n.439T>G
c.1726T>G
c.2699T>G (p.Leu900Arg)
c.2234T>G (p.Leu745Arg)
18g.23539958A>GCA401792949NPC1c.2648T>C (p.Leu883Pro)
n.2562T>C
n.439T>C
c.1726T>C
c.2699T>C (p.Leu900Pro)
c.2234T>C (p.Leu745Pro)
 gnomAD v4
18g.23539958A>TCA401792950NPC1c.2648T>A (p.Leu883Gln)
n.2562T>A
n.439T>A
c.1726T>A
c.2699T>A (p.Leu900Gln)
c.2234T>A (p.Leu745Gln)
18g.23539959G>ACA503322670NPC1c.2647C>T (p.Leu883=)
n.2561C>T
n.438C>T
c.1725C>T
c.2698C>T (p.Leu900=)
c.2233C>T (p.Leu745=)
 gnomAD v4 COSMIC
18g.23539959G>CCA401792951NPC1c.2647C>G (p.Leu883Val)
n.2561C>G
n.438C>G
c.1725C>G
c.2698C>G (p.Leu900Val)
c.2233C>G (p.Leu745Val)
18g.23539959G>TCA401792952NPC1c.2647C>A (p.Leu883Met)
n.2561C>A
n.438C>A
c.1725C>A
c.2698C>A (p.Leu900Met)
c.2233C>A (p.Leu745Met)
18g.23539960delCA2580095530NPC1c.2647del (p.Leu883CysfsTer?)
n.2561del
n.438del
c.1725del
c.2698del (p.Leu900CysfsTer?)
c.2233del (p.Leu745CysfsTer?)
 ClinVar
18g.23539960G>ACA503322671NPC1c.2646C>T (p.Tyr882=)
n.2560C>T
n.437C>T
c.1724C>T
c.2697C>T (p.Tyr899=)
c.2232C>T (p.Tyr744=)
 ClinVar dbSNP gnomAD v4
18g.23539960G>CCA401792953NPC1c.2646C>G (p.Tyr882Ter)
n.2560C>G
n.437C>G
c.1724C>G
c.2697C>G (p.Tyr899Ter)
c.2232C>G (p.Tyr744Ter)
 gnomAD v4
18g.23539960G>TCA401792954NPC1c.2646C>A (p.Tyr882Ter)
n.2560C>A
n.437C>A
c.1724C>A
c.2697C>A (p.Tyr899Ter)
c.2232C>A (p.Tyr744Ter)
18g.23539961T>ACA401792955NPC1c.2645A>T (p.Tyr882Phe)
n.2559A>T
n.436A>T
c.1723A>T
c.2696A>T (p.Tyr899Phe)
c.2231A>T (p.Tyr744Phe)
18g.23539961T>CCA8913009NPC1c.2645A>G (p.Tyr882Cys)
n.2559A>G
n.436A>G
c.1723A>G
c.2696A>G (p.Tyr899Cys)
c.2231A>G (p.Tyr744Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539961T>GCA401792956NPC1c.2645A>C (p.Tyr882Ser)
n.2559A>C
n.436A>C
c.1723A>C
c.2696A>C (p.Tyr899Ser)
c.2231A>C (p.Tyr744Ser)
18g.23539961T=CA2290165969NPC1c.2645A= (p.Tyr882=)
n.2559A=
n.436A=
c.1723A=
c.2696A= (p.Tyr899=)
c.2231A= (p.Tyr744=)
18g.23539961_23539965delinsTACTGCA2290165970NPC1c.2641_2645delinsCAGTA (p.Gln881=)
n.2555_2559delinsCAGTA
n.432_436delinsCAGTA
c.1719_1723delinsCAGTA
c.2692_2696delinsCAGTA (p.Gln898=)
c.2227_2231delinsCAGTA (p.Gln743=)
18g.23539962A=CA2290165972NPC1c.2644T= (p.Tyr882=)
n.2558T=
n.435T=
c.1722T=
c.2695T= (p.Tyr899=)
c.2230T= (p.Tyr744=)
18g.23539962A>CCA401792958NPC1c.2644T>G (p.Tyr882Asp)
n.2558T>G
n.435T>G
c.1722T>G
c.2695T>G (p.Tyr899Asp)
c.2230T>G (p.Tyr744Asp)
18g.23539962A>GCA8913010NPC1c.2644T>C (p.Tyr882His)
n.2558T>C
n.435T>C
c.1722T>C
c.2695T>C (p.Tyr899His)
c.2230T>C (p.Tyr744His)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539962A>TCA401792957NPC1c.2644T>A (p.Tyr882Asn)
n.2558T>A
n.435T>A
c.1722T>A
c.2695T>A (p.Tyr899Asn)
c.2230T>A (p.Tyr744Asn)
 gnomAD v4
18g.23539967_23539970delCA2290165971NPC1c.2641_2644del (p.Gln881ThrfsTer?)
n.2555_2558del
n.432_435del
c.1719_1722del
c.2692_2695del (p.Gln898ThrfsTer?)
c.2227_2230del (p.Gln743ThrfsTer?)
 dbSNP gnomAD v4
18g.23539963C>ACA401792959NPC1c.2643G>T (p.Gln881His)
n.2557G>T
n.434G>T
c.1721G>T
c.2694G>T (p.Gln898His)
c.2229G>T (p.Gln743His)
18g.23539963C=CA2290165973NPC1c.2643G= (p.Gln881=)
n.2557G=
n.434G=
c.1721G=
c.2694G= (p.Gln898=)
c.2229G= (p.Gln743=)
18g.23539963C>GCA401792960NPC1c.2643G>C (p.Gln881His)
n.2557G>C
n.434G>C
c.1721G>C
c.2694G>C (p.Gln898His)
c.2229G>C (p.Gln743His)
18g.23539963C>TCA503322672NPC1c.2643G>A (p.Gln881=)
n.2557G>A
n.434G>A
c.1721G>A
c.2694G>A (p.Gln898=)
c.2229G>A (p.Gln743=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23539964T>ACA401792961NPC1c.2642A>T (p.Gln881Leu)
n.2556A>T
n.433A>T
c.1720A>T
c.2693A>T (p.Gln898Leu)
c.2228A>T (p.Gln743Leu)
18g.23539964T>CCA401792962NPC1c.2642A>G (p.Gln881Arg)
n.2556A>G
n.433A>G
c.1720A>G
c.2693A>G (p.Gln898Arg)
c.2228A>G (p.Gln743Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.23539964T>GCA401792963NPC1c.2642A>C (p.Gln881Pro)
n.2556A>C
n.433A>C
c.1720A>C
c.2693A>C (p.Gln898Pro)
c.2228A>C (p.Gln743Pro)
 dbSNP gnomAD v2 gnomAD v4
18g.23539964T=CA2290165974NPC1c.2642A= (p.Gln881=)
n.2556A=
n.433A=
c.1720A=
c.2693A= (p.Gln898=)
c.2228A= (p.Gln743=)
18g.23539965G>ACA401792964NPC1c.2641C>T (p.Gln881Ter)
n.2555C>T
n.432C>T
c.1719C>T
c.2692C>T (p.Gln898Ter)
c.2227C>T (p.Gln743Ter)
 ClinVar
18g.23539965G>CCA401792965NPC1c.2641C>G (p.Gln881Glu)
n.2555C>G
n.432C>G
c.1719C>G
c.2692C>G (p.Gln898Glu)
c.2227C>G (p.Gln743Glu)
18g.23539965G>TCA401792966NPC1c.2641C>A (p.Gln881Lys)
n.2555C>A
n.432C>A
c.1719C>A
c.2692C>A (p.Gln898Lys)
c.2227C>A (p.Gln743Lys)
18g.23539966A>CCA401792967NPC1c.2640T>G (p.Ser880Arg)
n.2554T>G
n.431T>G
c.1718T>G
c.2691T>G (p.Ser897Arg)
c.2226T>G (p.Ser742Arg)
18g.23539966A>GCA503322673NPC1c.2640T>C (p.Ser880=)
n.2554T>C
n.431T>C
c.1718T>C
c.2691T>C (p.Ser897=)
c.2226T>C (p.Ser742=)
 gnomAD v4
18g.23539966A>TCA401792968NPC1c.2640T>A (p.Ser880Arg)
n.2554T>A
n.431T>A
c.1718T>A
c.2691T>A (p.Ser897Arg)
c.2226T>A (p.Ser742Arg)
18g.23539967C>ACA401792969NPC1c.2639G>T (p.Ser880Ile)
n.2553G>T
n.430G>T
c.1717G>T
c.2690G>T (p.Ser897Ile)
c.2225G>T (p.Ser742Ile)
18g.23539967C>GCA401792970NPC1c.2639G>C (p.Ser880Thr)
n.2553G>C
n.430G>C
c.1717G>C
c.2690G>C (p.Ser897Thr)
c.2225G>C (p.Ser742Thr)
18g.23539967C>TCA401792971NPC1c.2639G>A (p.Ser880Asn)
n.2553G>A
n.430G>A
c.1717G>A
c.2690G>A (p.Ser897Asn)
c.2225G>A (p.Ser742Asn)
18g.23539968T>ACA401792974NPC1c.2638A>T (p.Ser880Cys)
n.2552A>T
n.429A>T
c.1716A>T
c.2689A>T (p.Ser897Cys)
c.2224A>T (p.Ser742Cys)
18g.23539968T>CCA401792973NPC1c.2638A>G (p.Ser880Gly)
n.2552A>G
n.429A>G
c.1716A>G
c.2689A>G (p.Ser897Gly)
c.2224A>G (p.Ser742Gly)
18g.23539968T>GCA401792972NPC1c.2638A>C (p.Ser880Arg)
n.2552A>C
n.429A>C
c.1716A>C
c.2689A>C (p.Ser897Arg)
c.2224A>C (p.Ser742Arg)
 ClinVar dbSNP
18g.23539969G>ACA503322674NPC1c.2637C>T (p.Ile879=)
n.2551C>T
n.428C>T
c.1715C>T
c.2688C>T (p.Ile896=)
c.2223C>T (p.Ile741=)
 gnomAD v4
18g.23539969G>CCA401792975NPC1c.2637C>G (p.Ile879Met)
n.2551C>G
n.428C>G
c.1715C>G
c.2688C>G (p.Ile896Met)
c.2223C>G (p.Ile741Met)
18g.23539969G>TCA503322675NPC1c.2637C>A (p.Ile879=)
n.2551C>A
n.428C>A
c.1715C>A
c.2688C>A (p.Ile896=)
c.2223C>A (p.Ile741=)
18g.23539970A>CCA401792976NPC1c.2636T>G (p.Ile879Ser)
n.2550T>G
n.427T>G
c.1714T>G
c.2687T>G (p.Ile896Ser)
c.2222T>G (p.Ile741Ser)
18g.23539970A>GCA401792977NPC1c.2636T>C (p.Ile879Thr)
n.2550T>C
n.427T>C
c.1714T>C
c.2687T>C (p.Ile896Thr)
c.2222T>C (p.Ile741Thr)
18g.23539970A>TCA401792978NPC1c.2636T>A (p.Ile879Asn)
n.2550T>A
n.427T>A
c.1714T>A
c.2687T>A (p.Ile896Asn)
c.2222T>A (p.Ile741Asn)
18g.23539970_23539971dupCA2695227444NPC1c.2635_2636dup (p.Gln881ValfsTer?)
n.2549_2550dup
n.426_427dup
c.1713_1714dup
c.2686_2687dup (p.Gln898ValfsTer?)
c.2221_2222dup (p.Gln743ValfsTer?)
18g.23539971T>ACA401792979NPC1c.2635A>T (p.Ile879Phe)
n.2549A>T
n.426A>T
c.1713A>T
c.2686A>T (p.Ile896Phe)
c.2221A>T (p.Ile741Phe)
18g.23539971T>CCA297081493NPC1c.2635A>G (p.Ile879Val)
n.2549A>G
n.426A>G
c.1713A>G
c.2686A>G (p.Ile896Val)
c.2221A>G (p.Ile741Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23539971T>GCA401792980NPC1c.2635A>C (p.Ile879Leu)
n.2549A>C
n.426A>C
c.1713A>C
c.2686A>C (p.Ile896Leu)
c.2221A>C (p.Ile741Leu)
 gnomAD v4
18g.23539971T=CA2290165975NPC1c.2635A= (p.Ile879=)
n.2549A=
n.426A=
c.1713A=
c.2686A= (p.Ile896=)
c.2221A= (p.Ile741=)
18g.23539972G>ACA503322676NPC1c.2634C>T (p.Ser878=)
n.2548C>T
n.425C>T
c.1712C>T
c.2685C>T (p.Ser895=)
c.2220C>T (p.Ser740=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23539972G>CCA503322677NPC1c.2634C>G (p.Ser878=)
n.2548C>G
n.425C>G
c.1712C>G
c.2685C>G (p.Ser895=)
c.2220C>G (p.Ser740=)
18g.23539972G=CA2290165976NPC1c.2634C= (p.Ser878=)
n.2548C=
n.425C=
c.1712C=
c.2685C= (p.Ser895=)
c.2220C= (p.Ser740=)
18g.23539972G>TCA503322678NPC1c.2634C>A (p.Ser878=)
n.2548C>A
n.425C>A
c.1712C>A
c.2685C>A (p.Ser895=)
c.2220C>A (p.Ser740=)
18g.23539973G>ACA401792981NPC1c.2633C>T (p.Ser878Phe)
n.2547C>T
n.424C>T
c.1711C>T
c.2684C>T (p.Ser895Phe)
c.2219C>T (p.Ser740Phe)
 gnomAD v4
18g.23539973G>CCA401792982NPC1c.2633C>G (p.Ser878Cys)
n.2547C>G
n.424C>G
c.1711C>G
c.2684C>G (p.Ser895Cys)
c.2219C>G (p.Ser740Cys)
 gnomAD v4
18g.23539973G>TCA401792983NPC1c.2633C>A (p.Ser878Tyr)
n.2547C>A
n.424C>A
c.1711C>A
c.2684C>A (p.Ser895Tyr)
c.2219C>A (p.Ser740Tyr)
18g.23539974A>CCA401792984NPC1c.2632T>G (p.Ser878Ala)
n.2546T>G
n.423T>G
c.1710T>G
c.2683T>G (p.Ser895Ala)
c.2218T>G (p.Ser740Ala)
18g.23539974A>GCA401792985NPC1c.2632T>C (p.Ser878Pro)
n.2546T>C
n.423T>C
c.1710T>C
c.2683T>C (p.Ser895Pro)
c.2218T>C (p.Ser740Pro)
18g.23539974A>TCA401792986NPC1c.2632T>A (p.Ser878Thr)
n.2546T>A
n.423T>A
c.1710T>A
c.2683T>A (p.Ser895Thr)
c.2218T>A (p.Ser740Thr)
18g.23539975T>ACA401792987NPC1c.2631A>T (p.Lys877Asn)
n.2545A>T
n.422A>T
c.1709A>T
c.2682A>T (p.Lys894Asn)
c.2217A>T (p.Lys739Asn)
 gnomAD v4
18g.23539975T>CCA503322679NPC1c.2631A>G (p.Lys877=)
n.2545A>G
n.422A>G
c.1709A>G
c.2682A>G (p.Lys894=)
c.2217A>G (p.Lys739=)
 gnomAD v4
18g.23539975T>GCA401792988NPC1c.2631A>C (p.Lys877Asn)
n.2545A>C
n.422A>C
c.1709A>C
c.2682A>C (p.Lys894Asn)
c.2217A>C (p.Lys739Asn)
18g.23539976T>ACA401792989NPC1c.2630A>T (p.Lys877Ile)
n.2544A>T
n.421A>T
c.1708A>T
c.2681A>T (p.Lys894Ile)
c.2216A>T (p.Lys739Ile)
18g.23539976T>CCA401792990NPC1c.2630A>G (p.Lys877Arg)
n.2544A>G
n.421A>G
c.1708A>G
c.2681A>G (p.Lys894Arg)
c.2216A>G (p.Lys739Arg)
18g.23539976T>GCA8913011NPC1c.2630A>C (p.Lys877Thr)
n.2544A>C
n.421A>C
c.1708A>C
c.2681A>C (p.Lys894Thr)
c.2216A>C (p.Lys739Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23539976T=CA2290165977NPC1c.2630A= (p.Lys877=)
n.2544A=
n.421A=
c.1708A=
c.2681A= (p.Lys894=)
c.2216A= (p.Lys739=)
18g.23539977T>ACA401792991NPC1c.2629A>T (p.Lys877Ter)
n.2543A>T
n.420A>T
c.1707A>T
c.2680A>T (p.Lys894Ter)
c.2215A>T (p.Lys739Ter)
18g.23539977T>CCA401792992NPC1c.2629A>G (p.Lys877Glu)
n.2543A>G
n.420A>G
c.1707A>G
c.2680A>G (p.Lys894Glu)
c.2215A>G (p.Lys739Glu)
 gnomAD v4
18g.23539977T>GCA401792993NPC1c.2629A>C (p.Lys877Gln)
n.2543A>C
n.420A>C
c.1707A>C
c.2680A>C (p.Lys894Gln)
c.2215A>C (p.Lys739Gln)
18g.23539978G>ACA503322680NPC1c.2628C>T (p.Phe876=)
n.2542C>T
n.419C>T
c.1706C>T
c.2679C>T (p.Phe893=)
c.2214C>T (p.Phe738=)
 dbSNP gnomAD v4
18g.23539978G>CCA401792994NPC1c.2628C>G (p.Phe876Leu)
n.2542C>G
n.419C>G
c.1706C>G
c.2679C>G (p.Phe893Leu)
c.2214C>G (p.Phe738Leu)
18g.23539978G=CA2290165978NPC1c.2628C= (p.Phe876=)
n.2542C=
n.419C=
c.1706C=
c.2679C= (p.Phe893=)
c.2214C= (p.Phe738=)
18g.23539978G>TCA401792995NPC1c.2628C>A (p.Phe876Leu)
n.2542C>A
n.419C>A
c.1706C>A
c.2679C>A (p.Phe893Leu)
c.2214C>A (p.Phe738Leu)
18g.23539979A>CCA401792996NPC1c.2627T>G (p.Phe876Cys)
n.2541T>G
n.418T>G
c.1705T>G
c.2678T>G (p.Phe893Cys)
c.2213T>G (p.Phe738Cys)
18g.23539979A>GCA401792997NPC1c.2627T>C (p.Phe876Ser)
n.2541T>C
n.418T>C
c.1705T>C
c.2678T>C (p.Phe893Ser)
c.2213T>C (p.Phe738Ser)
18g.23539979A>TCA401792998NPC1c.2627T>A (p.Phe876Tyr)
n.2541T>A
n.418T>A
c.1705T>A
c.2678T>A (p.Phe893Tyr)
c.2213T>A (p.Phe738Tyr)
18g.23539980A>CCA401792999NPC1c.2626T>G (p.Phe876Val)
n.2540T>G
n.417T>G
c.1704T>G
c.2677T>G (p.Phe893Val)
c.2212T>G (p.Phe738Val)
18g.23539980A>GCA401793000NPC1c.2626T>C (p.Phe876Leu)
n.2540T>C
n.417T>C
c.1704T>C
c.2677T>C (p.Phe893Leu)
c.2212T>C (p.Phe738Leu)
18g.23539980A>TCA401793001NPC1c.2626T>A (p.Phe876Ile)
n.2540T>A
n.417T>A
c.1704T>A
c.2677T>A (p.Phe893Ile)
c.2212T>A (p.Phe738Ile)
18g.23539981A=CA2290165979NPC1c.2625T= (p.Tyr875=)
n.2539T=
n.416T=
c.1703T=
c.2676T= (p.Tyr892=)
c.2211T= (p.Tyr737=)
18g.23539981A>CCA401793002NPC1c.2625T>G (p.Tyr875Ter)
n.2539T>G
n.416T>G
c.1703T>G
c.2676T>G (p.Tyr892Ter)
c.2211T>G (p.Tyr737Ter)
 ClinVar dbSNP
18g.23539981A>GCA503322681NPC1c.2625T>C (p.Tyr875=)
n.2539T>C
n.416T>C
c.1703T>C
c.2676T>C (p.Tyr892=)
c.2211T>C (p.Tyr737=)
18g.23539981A>TCA401793003NPC1c.2625T>A (p.Tyr875Ter)
n.2539T>A
n.416T>A
c.1703T>A
c.2676T>A (p.Tyr892Ter)
c.2211T>A (p.Tyr737Ter)
18g.23539982T>ACA401793004NPC1c.2624A>T (p.Tyr875Phe)
n.2538A>T
n.415A>T
c.1702A>T
c.2675A>T (p.Tyr892Phe)
c.2210A>T (p.Tyr737Phe)
 gnomAD v4
18g.23539982T>CCA401793005NPC1c.2624A>G (p.Tyr875Cys)
n.2538A>G
n.415A>G
c.1702A>G
c.2675A>G (p.Tyr892Cys)
c.2210A>G (p.Tyr737Cys)
18g.23539982T>GCA401793006NPC1c.2624A>C (p.Tyr875Ser)
n.2538A>C
n.415A>C
c.1702A>C
c.2675A>C (p.Tyr892Ser)
c.2210A>C (p.Tyr737Ser)
18g.23539983A>CCA401793007NPC1c.2623T>G (p.Tyr875Asp)
n.2537T>G
n.414T>G
c.1701T>G
c.2674T>G (p.Tyr892Asp)
c.2209T>G (p.Tyr737Asp)
18g.23539983A>GCA401793008NPC1c.2623T>C (p.Tyr875His)
n.2537T>C
n.414T>C
c.1701T>C
c.2674T>C (p.Tyr892His)
c.2209T>C (p.Tyr737His)
18g.23539983A>TCA401793009NPC1c.2623T>A (p.Tyr875Asn)
n.2537T>A
n.414T>A
c.1701T>A
c.2674T>A (p.Tyr892Asn)
c.2209T>A (p.Tyr737Asn)
18g.23539984A>CCA401793010NPC1c.2622T>G (p.Asp874Glu)
n.2536T>G
n.413T>G
c.1700T>G
c.2673T>G (p.Asp891Glu)
c.2208T>G (p.Asp736Glu)
18g.23539984A>GCA503322682NPC1c.2622T>C (p.Asp874=)
n.2536T>C
n.413T>C
c.1700T>C
c.2673T>C (p.Asp891=)
c.2208T>C (p.Asp736=)
 gnomAD v4
18g.23539984A>TCA401793011NPC1c.2622T>A (p.Asp874Glu)
n.2536T>A
n.413T>A
c.1700T>A
c.2673T>A (p.Asp891Glu)
c.2208T>A (p.Asp736Glu)
18g.23539984_23539985insAAAACTTAAAACTCTTGTTTATACA2641273874NPC1c.2622_2623insATAAACAAGAGTTTTAAGTTTTT (p.Tyr875IlefsTer?)
n.2536_2537insATAAACAAGAGTTTTAAGTTTTT
n.413_414insATAAACAAGAGTTTTAAGTTTTT
c.1700_1701insATAAACAAGAGTTTTAAGTTTTT
c.2673_2674insATAAACAAGAGTTTTAAGTTTTT (p.Tyr892IlefsTer?)
c.2208_2209insATAAACAAGAGTTTTAAGTTTTT (p.Tyr737IlefsTer?)
 gnomAD v4
18g.23539985T>ACA275049NPC1c.2621A>T (p.Asp874Val)
n.2535A>T
n.412A>T
c.1699A>T
c.2672A>T (p.Asp891Val)
c.2207A>T (p.Asp736Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539985T>CCA401793012NPC1c.2621A>G (p.Asp874Gly)
n.2535A>G
n.412A>G
c.1699A>G
c.2672A>G (p.Asp891Gly)
c.2207A>G (p.Asp736Gly)
18g.23539985T>GCA401793013NPC1c.2621A>C (p.Asp874Ala)
n.2535A>C
n.412A>C
c.1699A>C
c.2672A>C (p.Asp891Ala)
c.2207A>C (p.Asp736Ala)
18g.23539985T=CA2290165980NPC1c.2621A= (p.Asp874=)
n.2535A=
n.412A=
c.1699A=
c.2672A= (p.Asp891=)
c.2207A= (p.Asp736=)
18g.23539986C>ACA401793014NPC1c.2620G>T (p.Asp874Tyr)
n.2534G>T
n.411G>T
c.1698G>T
c.2671G>T (p.Asp891Tyr)
c.2206G>T (p.Asp736Tyr)
18g.23539986C>GCA401793016NPC1c.2620G>C (p.Asp874His)
n.2534G>C
n.411G>C
c.1698G>C
c.2671G>C (p.Asp891His)
c.2206G>C (p.Asp736His)
18g.23539986C>TCA401793015NPC1c.2620G>A (p.Asp874Asn)
n.2534G>A
n.411G>A
c.1698G>A
c.2671G>A (p.Asp891Asn)
c.2206G>A (p.Asp736Asn)
18g.23539987C>ACA503322683NPC1c.2619G>T (p.Val873=)
n.2533G>T
n.410G>T
c.1697G>T
c.2670G>T (p.Val890=)
c.2205G>T (p.Val735=)
18g.23539987C=CA2290165981NPC1c.2619G= (p.Val873=)
n.2533G=
n.410G=
c.1697G=
c.2670G= (p.Val890=)
c.2205G= (p.Val735=)
18g.23539987C>GCA503322684NPC1c.2619G>C (p.Val873=)
n.2533G>C
n.410G>C
c.1697G>C
c.2670G>C (p.Val890=)
c.2205G>C (p.Val735=)
18g.23539987C>TCA503322685NPC1c.2619G>A (p.Val873=)
n.2533G>A
n.410G>A
c.1697G>A
c.2670G>A (p.Val890=)
c.2205G>A (p.Val735=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23539988A>CCA401793017NPC1c.2618T>G (p.Val873Gly)
n.2532T>G
n.409T>G
c.1696T>G
c.2669T>G (p.Val890Gly)
c.2204T>G (p.Val735Gly)
18g.23539988A>GCA401793019NPC1c.2618T>C (p.Val873Ala)
n.2532T>C
n.409T>C
c.1696T>C
c.2669T>C (p.Val890Ala)
c.2204T>C (p.Val735Ala)
18g.23539988A>TCA401793018NPC1c.2618T>A (p.Val873Glu)
n.2532T>A
n.409T>A
c.1696T>A
c.2669T>A (p.Val890Glu)
c.2204T>A (p.Val735Glu)
18g.23539989C>ACA401793020NPC1c.2617G>T (p.Val873Leu)
n.2531G>T
n.408G>T
c.1695G>T
c.2668G>T (p.Val890Leu)
c.2203G>T (p.Val735Leu)
18g.23539989C=CA2290165982NPC1c.2617G= (p.Val873=)
n.2531G=
n.408G=
c.1695G=
c.2668G= (p.Val890=)
c.2203G= (p.Val735=)
18g.23539989C>GCA401793021NPC1c.2617G>C (p.Val873Leu)
n.2531G>C
n.408G>C
c.1695G>C
c.2668G>C (p.Val890Leu)
c.2203G>C (p.Val735Leu)
18g.23539989C>TCA401793022NPC1c.2617G>A (p.Val873Met)
n.2531G>A
n.408G>A
c.1695G>A
c.2668G>A (p.Val890Met)
c.2203G>A (p.Val735Met)
 ClinVar dbSNP
18g.23539990C>ACA401793023NPC1c.2616G>T (p.Met872Ile)
n.2530G>T
n.407G>T
c.1694G>T
c.2667G>T (p.Met889Ile)
c.2202G>T (p.Met734Ile)
18g.23539990C=CA2290165983NPC1c.2616G= (p.Met872=)
n.2530G=
n.407G=
c.1694G=
c.2667G= (p.Met889=)
c.2202G= (p.Met734=)
18g.23539990C>GCA401793024NPC1c.2616G>C (p.Met872Ile)
n.2530G>C
n.407G>C
c.1694G>C
c.2667G>C (p.Met889Ile)
c.2202G>C (p.Met734Ile)
 dbSNP
18g.23539990C>TCA401793025NPC1c.2616G>A (p.Met872Ile)
n.2530G>A
n.407G>A
c.1694G>A
c.2667G>A (p.Met889Ile)
c.2202G>A (p.Met734Ile)
18g.23539991A=CA2290165984NPC1c.2615T= (p.Met872=)
n.2529T=
n.406T=
c.1693T=
c.2666T= (p.Met889=)
c.2201T= (p.Met734=)
18g.23539991A>CCA401793028NPC1c.2615T>G (p.Met872Arg)
n.2529T>G
n.406T>G
c.1693T>G
c.2666T>G (p.Met889Arg)
c.2201T>G (p.Met734Arg)
18g.23539991A>GCA401793026NPC1c.2615T>C (p.Met872Thr)
n.2529T>C
n.406T>C
c.1693T>C
c.2666T>C (p.Met889Thr)
c.2201T>C (p.Met734Thr)
 dbSNP
18g.23539991A>TCA401793027NPC1c.2615T>A (p.Met872Lys)
n.2529T>A
n.406T>A
c.1693T>A
c.2666T>A (p.Met889Lys)
c.2201T>A (p.Met734Lys)
18g.23539992T>ACA401793029NPC1c.2614A>T (p.Met872Leu)
n.2528A>T
n.405A>T
c.1692A>T
c.2665A>T (p.Met889Leu)
c.2200A>T (p.Met734Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23539992T>CCA8913012NPC1c.2614A>G (p.Met872Val)
n.2528A>G
n.405A>G
c.1692A>G
c.2665A>G (p.Met889Val)
c.2200A>G (p.Met734Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23539992T>GCA401793030NPC1c.2614A>C (p.Met872Leu)
n.2528A>C
n.405A>C
c.1692A>C
c.2665A>C (p.Met889Leu)
c.2200A>C (p.Met734Leu)
18g.23539992T=CA2290165985NPC1c.2614A= (p.Met872=)
n.2528A=
n.405A=
c.1692A=
c.2665A= (p.Met889=)
c.2200A= (p.Met734=)
18g.23539993G>ACA503322686NPC1c.2613C>T (p.Tyr871=)
n.2527C>T
n.404C>T
c.1691C>T
c.2664C>T (p.Tyr888=)
c.2199C>T (p.Tyr733=)
 ClinVar
18g.23539993G>CCA401793031NPC1c.2613C>G (p.Tyr871Ter)
n.2527C>G
n.404C>G
c.1691C>G
c.2664C>G (p.Tyr888Ter)
c.2199C>G (p.Tyr733Ter)
18g.23539993G>TCA401793032NPC1c.2613C>A (p.Tyr871Ter)
n.2527C>A
n.404C>A
c.1691C>A
c.2664C>A (p.Tyr888Ter)
c.2199C>A (p.Tyr733Ter)
18g.23539994delCA2580095536NPC1c.2612del (p.Tyr871SerfsTer?)
n.2526del
n.403del
c.1690del
c.2663del (p.Tyr888SerfsTer?)
c.2198del (p.Tyr733SerfsTer?)
 ClinVar
18g.23539994T>ACA401793033NPC1c.2612A>T (p.Tyr871Phe)
n.2526A>T
n.403A>T
c.1690A>T
c.2663A>T (p.Tyr888Phe)
c.2198A>T (p.Tyr733Phe)
18g.23539994T>CCA401793035NPC1c.2612A>G (p.Tyr871Cys)
n.2526A>G
n.403A>G
c.1690A>G
c.2663A>G (p.Tyr888Cys)
c.2198A>G (p.Tyr733Cys)
 dbSNP gnomAD v3 gnomAD v4
18g.23539994T>GCA401793034NPC1c.2612A>C (p.Tyr871Ser)
n.2526A>C
n.403A>C
c.1690A>C
c.2663A>C (p.Tyr888Ser)
c.2198A>C (p.Tyr733Ser)
18g.23539994T=CA2290165986NPC1c.2612A= (p.Tyr871=)
n.2526A=
n.403A=
c.1690A=
c.2663A= (p.Tyr888=)
c.2198A= (p.Tyr733=)
18g.23539995A>CCA401793036NPC1c.2611T>G (p.Tyr871Asp)
n.2525T>G
n.402T>G
c.1689T>G
c.2662T>G (p.Tyr888Asp)
c.2197T>G (p.Tyr733Asp)
 gnomAD v4
18g.23539995A>GCA401793037NPC1c.2611T>C (p.Tyr871His)
n.2525T>C
n.402T>C
c.1689T>C
c.2662T>C (p.Tyr888His)
c.2197T>C (p.Tyr733His)
18g.23539995A>TCA401793038NPC1c.2611T>A (p.Tyr871Asn)
n.2525T>A
n.402T>A
c.1689T>A
c.2662T>A (p.Tyr888Asn)
c.2197T>A (p.Tyr733Asn)
18g.23539996G>ACA503322687NPC1c.2610C>T (p.Ser870=)
n.2524C>T
n.401C>T
c.1688C>T
c.2661C>T (p.Ser887=)
c.2196C>T (p.Ser732=)
18g.23539996G>CCA503322688NPC1c.2610C>G (p.Ser870=)
n.2524C>G
n.401C>G
c.1688C>G
c.2661C>G (p.Ser887=)
c.2196C>G (p.Ser732=)
18g.23539996G>TCA503322689NPC1c.2610C>A (p.Ser870=)
n.2524C>A
n.401C>A
c.1688C>A
c.2661C>A (p.Ser887=)
c.2196C>A (p.Ser732=)
18g.23539997G>ACA401793039NPC1c.2609C>T (p.Ser870Phe)
n.2523C>T
n.400C>T
c.1687C>T
c.2660C>T (p.Ser887Phe)
c.2195C>T (p.Ser732Phe)
18g.23539997G>CCA401793040NPC1c.2609C>G (p.Ser870Cys)
n.2523C>G
n.400C>G
c.1687C>G
c.2660C>G (p.Ser887Cys)
c.2195C>G (p.Ser732Cys)
18g.23539997G>TCA401793041NPC1c.2609C>A (p.Ser870Tyr)
n.2523C>A
n.400C>A
c.1687C>A
c.2660C>A (p.Ser887Tyr)
c.2195C>A (p.Ser732Tyr)
18g.23539998A=CA2290165987NPC1c.2608T= (p.Ser870=)
n.2522T=
n.399T=
c.1686T=
c.2659T= (p.Ser887=)
c.2194T= (p.Ser732=)
18g.23539998A>CCA401793042NPC1c.2608T>G (p.Ser870Ala)
n.2522T>G
n.399T>G
c.1686T>G
c.2659T>G (p.Ser887Ala)
c.2194T>G (p.Ser732Ala)
18g.23539998A>GCA401793043NPC1c.2608T>C (p.Ser870Pro)
n.2522T>C
n.399T>C
c.1686T>C
c.2659T>C (p.Ser887Pro)
c.2194T>C (p.Ser732Pro)
18g.23539998A>TCA401793044NPC1c.2608T>A (p.Ser870Thr)
n.2522T>A
n.399T>A
c.1686T>A
c.2659T>A (p.Ser887Thr)
c.2194T>A (p.Ser732Thr)
 ClinVar dbSNP

Number of alleles fetched