Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23539854A>C | CA401792719 | NPC1 | c.2752T>G (p.Ser918Ala) n.2666T>G n.543T>G c.1830T>G n.45T>G c.2803T>G (p.Ser935Ala) c.2338T>G (p.Ser780Ala) | gnomAD v4 |
18 | g.23539854A>G | CA401792720 | NPC1 | c.2752T>C (p.Ser918Pro) n.2666T>C n.543T>C c.1830T>C n.45T>C c.2803T>C (p.Ser935Pro) c.2338T>C (p.Ser780Pro) | |
18 | g.23539854A>T | CA401792721 | NPC1 | c.2752T>A (p.Ser918Thr) n.2666T>A n.543T>A c.1830T>A n.45T>A c.2803T>A (p.Ser935Thr) c.2338T>A (p.Ser780Thr) | |
18 | g.23539855A>C | CA401792722 | NPC1 | c.2751T>G (p.Asp917Glu) n.2665T>G n.542T>G c.1829T>G n.44T>G c.2802T>G (p.Asp934Glu) c.2337T>G (p.Asp779Glu) | |
18 | g.23539855A>G | CA503322616 | NPC1 | c.2751T>C (p.Asp917=) n.2665T>C n.542T>C c.1829T>C n.44T>C c.2802T>C (p.Asp934=) c.2337T>C (p.Asp779=) | |
18 | g.23539855A>T | CA401792723 | NPC1 | c.2751T>A (p.Asp917Glu) n.2665T>A n.542T>A c.1829T>A n.44T>A c.2802T>A (p.Asp934Glu) c.2337T>A (p.Asp779Glu) | |
18 | g.23539857_23539872del | CA2580095523 | NPC1 | c.2736_2751del (p.Met912IlefsTer19) n.2650_2665del n.527_542del c.1814_1829del n.29_44del c.2787_2802del (p.Met929IlefsTer19) c.2322_2337del (p.Met774IlefsTer19) | ClinVar |
18 | g.23539856T>A | CA401792726 | NPC1 | c.2750A>T (p.Asp917Val) n.2664A>T n.541A>T c.1828A>T n.43A>T c.2801A>T (p.Asp934Val) c.2336A>T (p.Asp779Val) | |
18 | g.23539856T>C | CA401792724 | NPC1 | c.2750A>G (p.Asp917Gly) n.2664A>G n.541A>G c.1828A>G n.43A>G c.2801A>G (p.Asp934Gly) c.2336A>G (p.Asp779Gly) | |
18 | g.23539856T>G | CA401792725 | NPC1 | c.2750A>C (p.Asp917Ala) n.2664A>C n.541A>C c.1828A>C n.43A>C c.2801A>C (p.Asp934Ala) c.2336A>C (p.Asp779Ala) | |
18 | g.23539857C>A | CA401792727 | NPC1 | c.2749G>T (p.Asp917Tyr) n.2663G>T n.540G>T c.1827G>T n.42G>T c.2800G>T (p.Asp934Tyr) c.2335G>T (p.Asp779Tyr) | gnomAD v4 |
18 | g.23539857C>G | CA401792728 | NPC1 | c.2749G>C (p.Asp917His) n.2663G>C n.540G>C c.1827G>C n.42G>C c.2800G>C (p.Asp934His) c.2335G>C (p.Asp779His) | |
18 | g.23539857C>T | CA401792729 | NPC1 | c.2749G>A (p.Asp917Asn) n.2663G>A n.540G>A c.1827G>A n.42G>A c.2800G>A (p.Asp934Asn) c.2335G>A (p.Asp779Asn) | |
18 | g.23539857_23539860delinsCATT | CA2290165926 | NPC1 | c.2746_2749delinsAATG (p.Asn916=) n.2660_2663delinsAATG n.537_540delinsAATG c.1824_1827delinsAATG n.39_42delinsAATG c.2797_2800delinsAATG (p.Asn933=) c.2332_2335delinsAATG (p.Asn778=) | |
18 | g.23539858A= | CA2290165927 | NPC1 | c.2748T= (p.Asn916=) n.2662T= n.539T= c.1826T= n.41T= c.2799T= (p.Asn933=) c.2334T= (p.Asn778=) | |
18 | g.23539858A>C | CA401792730 | NPC1 | c.2748T>G (p.Asn916Lys) n.2662T>G n.539T>G c.1826T>G n.41T>G c.2799T>G (p.Asn933Lys) c.2334T>G (p.Asn778Lys) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539858A>G | CA503322617 | NPC1 | c.2748T>C (p.Asn916=) n.2662T>C n.539T>C c.1826T>C n.41T>C c.2799T>C (p.Asn933=) c.2334T>C (p.Asn778=) | ClinVar |
18 | g.23539858A>T | CA401792731 | NPC1 | c.2748T>A (p.Asn916Lys) n.2662T>A n.539T>A c.1826T>A n.41T>A c.2799T>A (p.Asn933Lys) c.2334T>A (p.Asn778Lys) | |
18 | g.23539858_23539860del | CA628978765 | NPC1 | c.2746_2748del (p.Asn916del) n.2660_2662del n.537_539del c.1824_1826del n.39_41del c.2797_2799del (p.Asn933del) c.2332_2334del (p.Asn778del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539859T>A | CA401792733 | NPC1 | c.2747A>T (p.Asn916Ile) n.2661A>T n.538A>T c.1825A>T n.40A>T c.2798A>T (p.Asn933Ile) c.2333A>T (p.Asn778Ile) | |
18 | g.23539859T>C | CA8912985 | NPC1 | c.2747A>G (p.Asn916Ser) n.2661A>G n.538A>G c.1825A>G n.40A>G c.2798A>G (p.Asn933Ser) c.2333A>G (p.Asn778Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539859T>G | CA401792732 | NPC1 | c.2747A>C (p.Asn916Thr) n.2661A>C n.538A>C c.1825A>C n.40A>C c.2798A>C (p.Asn933Thr) c.2333A>C (p.Asn778Thr) | |
18 | g.23539859T= | CA2290165928 | NPC1 | c.2747A= (p.Asn916=) n.2661A= n.538A= c.1825A= n.40A= c.2798A= (p.Asn933=) c.2333A= (p.Asn778=) | |
18 | g.23539860T>A | CA401792734 | NPC1 | c.2746A>T (p.Asn916Tyr) n.2660A>T n.537A>T c.1824A>T n.39A>T c.2797A>T (p.Asn933Tyr) c.2332A>T (p.Asn778Tyr) | |
18 | g.23539860T>C | CA401792735 | NPC1 | c.2746A>G (p.Asn916Asp) n.2660A>G n.537A>G c.1824A>G n.39A>G c.2797A>G (p.Asn933Asp) c.2332A>G (p.Asn778Asp) | |
18 | g.23539860T>G | CA401792736 | NPC1 | c.2746A>C (p.Asn916His) n.2660A>C n.537A>C c.1824A>C n.39A>C c.2797A>C (p.Asn933His) c.2332A>C (p.Asn778His) | |
18 | g.23539861G>A | CA503322618 | NPC1 | c.2745C>T (p.Asn915=) n.2659C>T n.536C>T c.1823C>T n.38C>T c.2796C>T (p.Asn932=) c.2331C>T (p.Asn777=) | |
18 | g.23539861G>C | CA401792737 | NPC1 | c.2745C>G (p.Asn915Lys) n.2659C>G n.536C>G c.1823C>G n.38C>G c.2796C>G (p.Asn932Lys) c.2331C>G (p.Asn777Lys) | |
18 | g.23539861G>T | CA401792738 | NPC1 | c.2745C>A (p.Asn915Lys) n.2659C>A n.536C>A c.1823C>A n.38C>A c.2796C>A (p.Asn932Lys) c.2331C>A (p.Asn777Lys) | |
18 | g.23539862T>A | CA401792739 | NPC1 | c.2744A>T (p.Asn915Ile) n.2658A>T n.535A>T c.1822A>T n.37A>T c.2795A>T (p.Asn932Ile) c.2330A>T (p.Asn777Ile) | |
18 | g.23539862T>C | CA401792740 | NPC1 | c.2744A>G (p.Asn915Ser) n.2658A>G n.535A>G c.1822A>G n.37A>G c.2795A>G (p.Asn932Ser) c.2330A>G (p.Asn777Ser) | |
18 | g.23539862T>G | CA401792741 | NPC1 | c.2744A>C (p.Asn915Thr) n.2658A>C n.535A>C c.1822A>C n.37A>C c.2795A>C (p.Asn932Thr) c.2330A>C (p.Asn777Thr) | |
18 | g.23539863T>A | CA401792742 | NPC1 | c.2743A>T (p.Asn915Tyr) n.2657A>T n.534A>T c.1821A>T n.36A>T c.2794A>T (p.Asn932Tyr) c.2329A>T (p.Asn777Tyr) | |
18 | g.23539863T>C | CA401792743 | NPC1 | c.2743A>G (p.Asn915Asp) n.2657A>G n.534A>G c.1821A>G n.36A>G c.2794A>G (p.Asn932Asp) c.2329A>G (p.Asn777Asp) | |
18 | g.23539863T>G | CA401792744 | NPC1 | c.2743A>C (p.Asn915His) n.2657A>C n.534A>C c.1821A>C n.36A>C c.2794A>C (p.Asn932His) c.2329A>C (p.Asn777His) | |
18 | g.23539864G>A | CA503322619 | NPC1 | c.2742C>T (p.Cys914=) n.2656C>T n.533C>T c.1820C>T n.35C>T c.2793C>T (p.Cys931=) c.2328C>T (p.Cys776=) | |
18 | g.23539864G>C | CA401792745 | NPC1 | c.2742C>G (p.Cys914Trp) n.2656C>G n.533C>G c.1820C>G n.35C>G c.2793C>G (p.Cys931Trp) c.2328C>G (p.Cys776Trp) | |
18 | g.23539864G= | CA2290165929 | NPC1 | c.2742C= (p.Cys914=) n.2656C= n.533C= c.1820C= n.35C= c.2793C= (p.Cys931=) c.2328C= (p.Cys776=) | |
18 | g.23539864G>T | CA401792746 | NPC1 | c.2742C>A (p.Cys914Ter) n.2656C>A n.533C>A c.1820C>A n.35C>A c.2793C>A (p.Cys931Ter) c.2328C>A (p.Cys776Ter) | ClinVar dbSNP |
18 | g.23539865C>A | CA401792747 | NPC1 | c.2741G>T (p.Cys914Phe) n.2655G>T n.532G>T c.1819G>T n.34G>T c.2792G>T (p.Cys931Phe) c.2327G>T (p.Cys776Phe) | |
18 | g.23539865C>G | CA401792749 | NPC1 | c.2741G>C (p.Cys914Ser) n.2655G>C n.532G>C c.1819G>C n.34G>C c.2792G>C (p.Cys931Ser) c.2327G>C (p.Cys776Ser) | |
18 | g.23539865C>T | CA401792748 | NPC1 | c.2741G>A (p.Cys914Tyr) n.2655G>A n.532G>A c.1819G>A n.34G>A c.2792G>A (p.Cys931Tyr) c.2327G>A (p.Cys776Tyr) | |
18 | g.23539866A>C | CA401792750 | NPC1 | c.2740T>G (p.Cys914Gly) n.2654T>G n.531T>G c.1818T>G n.33T>G c.2791T>G (p.Cys931Gly) c.2326T>G (p.Cys776Gly) | |
18 | g.23539866A>G | CA401792751 | NPC1 | c.2740T>C (p.Cys914Arg) n.2654T>C n.531T>C c.1818T>C n.33T>C c.2791T>C (p.Cys931Arg) c.2326T>C (p.Cys776Arg) | |
18 | g.23539866A>T | CA401792752 | NPC1 | c.2740T>A (p.Cys914Ser) n.2654T>A n.531T>A c.1818T>A n.33T>A c.2791T>A (p.Cys931Ser) c.2326T>A (p.Cys776Ser) | ClinVar |
18 | g.23539867G>A | CA503322620 | NPC1 | c.2739C>T (p.Gly913=) n.2653C>T n.530C>T c.1817C>T n.32C>T c.2790C>T (p.Gly930=) c.2325C>T (p.Gly775=) | |
18 | g.23539867G>C | CA503322621 | NPC1 | c.2739C>G (p.Gly913=) n.2653C>G n.530C>G c.1817C>G n.32C>G c.2790C>G (p.Gly930=) c.2325C>G (p.Gly775=) | |
18 | g.23539867G= | CA2290165930 | NPC1 | c.2739C= (p.Gly913=) n.2653C= n.530C= c.1817C= n.32C= c.2790C= (p.Gly930=) c.2325C= (p.Gly775=) | |
18 | g.23539867G>T | CA503322622 | NPC1 | c.2739C>A (p.Gly913=) n.2653C>A n.530C>A c.1817C>A n.32C>A c.2790C>A (p.Gly930=) c.2325C>A (p.Gly775=) | ClinVar dbSNP gnomAD v4 |
18 | g.23539868C>A | CA401792753 | NPC1 | c.2738G>T (p.Gly913Val) n.2652G>T n.529G>T c.1816G>T n.31G>T c.2789G>T (p.Gly930Val) c.2324G>T (p.Gly775Val) | |
18 | g.23539868C>G | CA401792754 | NPC1 | c.2738G>C (p.Gly913Ala) n.2652G>C n.529G>C c.1816G>C n.31G>C c.2789G>C (p.Gly930Ala) c.2324G>C (p.Gly775Ala) | |
18 | g.23539868C>T | CA401792755 | NPC1 | c.2738G>A (p.Gly913Asp) n.2652G>A n.529G>A c.1816G>A n.31G>A c.2789G>A (p.Gly930Asp) c.2324G>A (p.Gly775Asp) | |
18 | g.23539869C>A | CA401792756 | NPC1 | c.2737G>T (p.Gly913Cys) n.2651G>T n.528G>T c.1815G>T n.30G>T c.2788G>T (p.Gly930Cys) c.2323G>T (p.Gly775Cys) | |
18 | g.23539869C>G | CA401792757 | NPC1 | c.2737G>C (p.Gly913Arg) n.2651G>C n.528G>C c.1815G>C n.30G>C c.2788G>C (p.Gly930Arg) c.2323G>C (p.Gly775Arg) | |
18 | g.23539869C>T | CA401792758 | NPC1 | c.2737G>A (p.Gly913Ser) n.2651G>A n.528G>A c.1815G>A n.30G>A c.2788G>A (p.Gly930Ser) c.2323G>A (p.Gly775Ser) | |
18 | g.23539870C>A | CA401792759 | NPC1 | c.2736G>T (p.Met912Ile) n.2650G>T n.527G>T c.1814G>T n.29G>T c.2787G>T (p.Met929Ile) c.2322G>T (p.Met774Ile) | |
18 | g.23539870C>G | CA401792760 | NPC1 | c.2736G>C (p.Met912Ile) n.2650G>C n.527G>C c.1814G>C n.29G>C c.2787G>C (p.Met929Ile) c.2322G>C (p.Met774Ile) | |
18 | g.23539870C>T | CA401792761 | NPC1 | c.2736G>A (p.Met912Ile) n.2650G>A n.527G>A c.1814G>A n.29G>A c.2787G>A (p.Met929Ile) c.2322G>A (p.Met774Ile) | |
18 | g.23539871A= | CA2290165931 | NPC1 | c.2735T= (p.Met912=) n.2649T= n.526T= c.1813T= n.28T= c.2786T= (p.Met929=) c.2321T= (p.Met774=) | |
18 | g.23539871A>C | CA401792763 | NPC1 | c.2735T>G (p.Met912Arg) n.2649T>G n.526T>G c.1813T>G n.28T>G c.2786T>G (p.Met929Arg) c.2321T>G (p.Met774Arg) | |
18 | g.23539871A>G | CA8912986 | NPC1 | c.2735T>C (p.Met912Thr) n.2649T>C n.526T>C c.1813T>C n.28T>C c.2786T>C (p.Met929Thr) c.2321T>C (p.Met774Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539871A>T | CA401792762 | NPC1 | c.2735T>A (p.Met912Lys) n.2649T>A n.526T>A c.1813T>A n.28T>A c.2786T>A (p.Met929Lys) c.2321T>A (p.Met774Lys) | |
18 | g.23539872T>A | CA401792764 | NPC1 | c.2734A>T (p.Met912Leu) n.2648A>T n.525A>T c.1812A>T n.27A>T c.2785A>T (p.Met929Leu) c.2320A>T (p.Met774Leu) | |
18 | g.23539872T>C | CA8912988 | NPC1 | c.2734A>G (p.Met912Val) n.2648A>G n.525A>G c.1812A>G n.27A>G c.2785A>G (p.Met929Val) c.2320A>G (p.Met774Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539872T>G | CA8912987 | NPC1 | c.2734A>C (p.Met912Leu) n.2648A>C n.525A>C c.1812A>C n.27A>C c.2785A>C (p.Met929Leu) c.2320A>C (p.Met774Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539872T= | CA2290165932 | NPC1 | c.2734A= (p.Met912=) n.2648A= n.525A= c.1812A= n.27A= c.2785A= (p.Met929=) c.2320A= (p.Met774=) | |
18 | g.23539873G>A | CA503322624 | NPC1 | c.2733C>T (p.Gly911=) n.2647C>T n.524C>T c.1811C>T n.26C>T c.2784C>T (p.Gly928=) c.2319C>T (p.Gly773=) | |
18 | g.23539873G>C | CA503322625 | NPC1 | c.2733C>G (p.Gly911=) n.2647C>G n.524C>G c.1811C>G n.26C>G c.2784C>G (p.Gly928=) c.2319C>G (p.Gly773=) | |
18 | g.23539873G>T | CA503322623 | NPC1 | c.2733C>A (p.Gly911=) n.2647C>A n.524C>A c.1811C>A n.26C>A c.2784C>A (p.Gly928=) c.2319C>A (p.Gly773=) | |
18 | g.23539874C>A | CA401792765 | NPC1 | c.2732G>T (p.Gly911Val) n.2646G>T n.523G>T c.1810G>T n.25G>T c.2783G>T (p.Gly928Val) c.2318G>T (p.Gly773Val) | |
18 | g.23539874C>G | CA401792766 | NPC1 | c.2732G>C (p.Gly911Ala) n.2646G>C n.523G>C c.1810G>C n.25G>C c.2783G>C (p.Gly928Ala) c.2318G>C (p.Gly773Ala) | |
18 | g.23539874C>T | CA401792767 | NPC1 | c.2732G>A (p.Gly911Asp) n.2646G>A n.523G>A c.1810G>A n.25G>A c.2783G>A (p.Gly928Asp) c.2318G>A (p.Gly773Asp) | |
18 | g.23539875C>A | CA401792768 | NPC1 | c.2731G>T (p.Gly911Cys) n.2645G>T n.522G>T c.1809G>T n.24G>T c.2782G>T (p.Gly928Cys) c.2317G>T (p.Gly773Cys) | |
18 | g.23539875C= | CA2290165933 | NPC1 | c.2731G= (p.Gly911=) n.2645G= n.522G= c.1809G= n.24G= c.2782G= (p.Gly928=) c.2317G= (p.Gly773=) | |
18 | g.23539875C>G | CA401792769 | NPC1 | c.2731G>C (p.Gly911Arg) n.2645G>C n.522G>C c.1809G>C n.24G>C c.2782G>C (p.Gly928Arg) c.2317G>C (p.Gly773Arg) | |
18 | g.23539875C>T | CA297005 | NPC1 | c.2731G>A (p.Gly911Ser) n.2645G>A n.522G>A c.1809G>A n.24G>A c.2782G>A (p.Gly928Ser) c.2317G>A (p.Gly773Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.23539876del | CA2811805047 | NPC1 | c.2730del (p.Gly911AlafsTer25) n.2644del n.521del c.1808del n.23del c.2781del (p.Gly928AlafsTer25) c.2316del (p.Gly773AlafsTer25) | |
18 | g.23539876G>A | CA8912989 | NPC1 | c.2730C>T (p.Gly910=) n.2644C>T n.521C>T c.1808C>T n.23C>T c.2781C>T (p.Gly927=) c.2316C>T (p.Gly772=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.23539876G>C | CA503322627 | NPC1 | c.2730C>G (p.Gly910=) n.2644C>G n.521C>G c.1808C>G n.23C>G c.2781C>G (p.Gly927=) c.2316C>G (p.Gly772=) | |
18 | g.23539876G= | CA2290165934 | NPC1 | c.2730C= (p.Gly910=) n.2644C= n.521C= c.1808C= n.23C= c.2781C= (p.Gly927=) c.2316C= (p.Gly772=) | |
18 | g.23539876G>T | CA503322626 | NPC1 | c.2730C>A (p.Gly910=) n.2644C>A n.521C>A c.1808C>A n.23C>A c.2781C>A (p.Gly927=) c.2316C>A (p.Gly772=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539877C>A | CA401792770 | NPC1 | c.2729G>T (p.Gly910Val) n.2643G>T n.520G>T c.1807G>T n.22G>T c.2780G>T (p.Gly927Val) c.2315G>T (p.Gly772Val) | |
18 | g.23539877C>G | CA401792771 | NPC1 | c.2729G>C (p.Gly910Ala) n.2643G>C n.520G>C c.1807G>C n.22G>C c.2780G>C (p.Gly927Ala) c.2315G>C (p.Gly772Ala) | |
18 | g.23539877C>T | CA401792772 | NPC1 | c.2729G>A (p.Gly910Asp) n.2643G>A n.520G>A c.1807G>A n.22G>A c.2780G>A (p.Gly927Asp) c.2315G>A (p.Gly772Asp) | |
18 | g.23539878C>A | CA401792773 | NPC1 | c.2728G>T (p.Gly910Cys) n.2642G>T n.519G>T c.1806G>T n.21G>T c.2779G>T (p.Gly927Cys) c.2314G>T (p.Gly772Cys) | |
18 | g.23539878C= | CA2290165935 | NPC1 | c.2728G= (p.Gly910=) n.2642G= n.519G= c.1806G= n.21G= c.2779G= (p.Gly927=) c.2314G= (p.Gly772=) | |
18 | g.23539878C>G | CA401792774 | NPC1 | c.2728G>C (p.Gly910Arg) n.2642G>C n.519G>C c.1806G>C n.21G>C c.2779G>C (p.Gly927Arg) c.2314G>C (p.Gly772Arg) | |
18 | g.23539878C>T | CA8912990 | NPC1 | c.2728G>A (p.Gly910Ser) n.2642G>A n.519G>A c.1806G>A n.21G>A c.2779G>A (p.Gly927Ser) c.2314G>A (p.Gly772Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539879del | CA2811805053 | NPC1 | c.2727del (p.Cys909TrpfsTer27) n.2641del n.518del c.1805del n.20del c.2778del (p.Cys926TrpfsTer27) c.2313del (p.Cys771TrpfsTer27) | |
18 | g.23539879G>A | CA8912991 | NPC1 | c.2727C>T (p.Cys909=) n.2641C>T n.518C>T c.1805C>T n.20C>T c.2778C>T (p.Cys926=) c.2313C>T (p.Cys771=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.23539879G>C | CA401792775 | NPC1 | c.2727C>G (p.Cys909Trp) n.2641C>G n.518C>G c.1805C>G n.20C>G c.2778C>G (p.Cys926Trp) c.2313C>G (p.Cys771Trp) | |
18 | g.23539879G= | CA2290165936 | NPC1 | c.2727C= (p.Cys909=) n.2641C= n.518C= c.1805C= n.20C= c.2778C= (p.Cys926=) c.2313C= (p.Cys771=) | |
18 | g.23539879G>T | CA401792776 | NPC1 | c.2727C>A (p.Cys909Ter) n.2641C>A n.518C>A c.1805C>A n.20C>A c.2778C>A (p.Cys926Ter) c.2313C>A (p.Cys771Ter) | |
18 | g.23539880C>A | CA401792777 | NPC1 | c.2726G>T (p.Cys909Phe) n.2640G>T n.517G>T c.1804G>T n.19G>T c.2777G>T (p.Cys926Phe) c.2312G>T (p.Cys771Phe) | |
18 | g.23539880C>G | CA401792778 | NPC1 | c.2726G>C (p.Cys909Ser) n.2640G>C n.517G>C c.1804G>C n.19G>C c.2777G>C (p.Cys926Ser) c.2312G>C (p.Cys771Ser) | |
18 | g.23539880C>T | CA401792779 | NPC1 | c.2726G>A (p.Cys909Tyr) n.2640G>A n.517G>A c.1804G>A n.19G>A c.2777G>A (p.Cys926Tyr) c.2312G>A (p.Cys771Tyr) | |
18 | g.23539881A>C | CA401792782 | NPC1 | c.2725T>G (p.Cys909Gly) n.2639T>G n.516T>G c.1803T>G n.18T>G c.2776T>G (p.Cys926Gly) c.2311T>G (p.Cys771Gly) | |
18 | g.23539881A>G | CA401792781 | NPC1 | c.2725T>C (p.Cys909Arg) n.2639T>C n.516T>C c.1803T>C n.18T>C c.2776T>C (p.Cys926Arg) c.2311T>C (p.Cys771Arg) | gnomAD v4 |
18 | g.23539881A>T | CA401792780 | NPC1 | c.2725T>A (p.Cys909Ser) n.2639T>A n.516T>A c.1803T>A n.18T>A c.2776T>A (p.Cys926Ser) c.2311T>A (p.Cys771Ser) | |
18 | g.23539882C>A | CA503322628 | NPC1 | c.2724G>T (p.Val908=) n.2638G>T n.515G>T c.1802G>T n.17G>T c.2775G>T (p.Val925=) c.2310G>T (p.Val770=) | |
18 | g.23539882C>G | CA503322629 | NPC1 | c.2724G>C (p.Val908=) n.2638G>C n.515G>C c.1802G>C n.17G>C c.2775G>C (p.Val925=) c.2310G>C (p.Val770=) | |
18 | g.23539882C>T | CA503322630 | NPC1 | c.2724G>A (p.Val908=) n.2638G>A n.515G>A c.1802G>A n.17G>A c.2775G>A (p.Val925=) c.2310G>A (p.Val770=) | gnomAD v4 |
18 | g.23539883A= | CA2290165937 | NPC1 | c.2723T= (p.Val908=) n.2637T= n.514T= c.1801T= n.16T= c.2774T= (p.Val925=) c.2309T= (p.Val770=) | |
18 | g.23539883A>C | CA401792783 | NPC1 | c.2723T>G (p.Val908Gly) n.2637T>G n.514T>G c.1801T>G n.16T>G c.2774T>G (p.Val925Gly) c.2309T>G (p.Val770Gly) | |
18 | g.23539883A>G | CA401792784 | NPC1 | c.2723T>C (p.Val908Ala) n.2637T>C n.514T>C c.1801T>C n.16T>C c.2774T>C (p.Val925Ala) c.2309T>C (p.Val770Ala) | dbSNP gnomAD v2 |
18 | g.23539883A>T | CA401792785 | NPC1 | c.2723T>A (p.Val908Glu) n.2637T>A n.514T>A c.1801T>A n.16T>A c.2774T>A (p.Val925Glu) c.2309T>A (p.Val770Glu) | |
18 | g.23539884C>A | CA401792786 | NPC1 | c.2722G>T (p.Val908Leu) n.2636G>T n.513G>T c.1800G>T n.15G>T c.2773G>T (p.Val925Leu) c.2308G>T (p.Val770Leu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539884C= | CA2290165938 | NPC1 | c.2722G= (p.Val908=) n.2636G= n.513G= c.1800G= n.15G= c.2773G= (p.Val925=) c.2308G= (p.Val770=) | |
18 | g.23539884C>G | CA401792787 | NPC1 | c.2722G>C (p.Val908Leu) n.2636G>C n.513G>C c.1800G>C n.15G>C c.2773G>C (p.Val925Leu) c.2308G>C (p.Val770Leu) | |
18 | g.23539884C>T | CA401792788 | NPC1 | c.2722G>A (p.Val908Met) n.2636G>A n.513G>A c.1800G>A n.15G>A c.2773G>A (p.Val925Met) c.2308G>A (p.Val770Met) | |
18 | g.23539885C>A | CA401792789 | NPC1 | c.2721G>T (p.Met907Ile) n.2635G>T n.512G>T c.1799G>T n.14G>T c.2772G>T (p.Met924Ile) c.2307G>T (p.Met769Ile) | |
18 | g.23539885C>G | CA401792791 | NPC1 | c.2721G>C (p.Met907Ile) n.2635G>C n.512G>C c.1799G>C n.14G>C c.2772G>C (p.Met924Ile) c.2307G>C (p.Met769Ile) | gnomAD v4 |
18 | g.23539885C>T | CA401792790 | NPC1 | c.2721G>A (p.Met907Ile) n.2635G>A n.512G>A c.1799G>A n.14G>A c.2772G>A (p.Met924Ile) c.2307G>A (p.Met769Ile) | |
18 | g.23539886A>C | CA401792792 | NPC1 | c.2720T>G (p.Met907Arg) n.2634T>G n.511T>G c.1798T>G n.13T>G c.2771T>G (p.Met924Arg) c.2306T>G (p.Met769Arg) | |
18 | g.23539886A>G | CA401792793 | NPC1 | c.2720T>C (p.Met907Thr) n.2634T>C n.511T>C c.1798T>C n.13T>C c.2771T>C (p.Met924Thr) c.2306T>C (p.Met769Thr) | |
18 | g.23539886A>T | CA401792794 | NPC1 | c.2720T>A (p.Met907Lys) n.2634T>A n.511T>A c.1798T>A n.13T>A c.2771T>A (p.Met924Lys) c.2306T>A (p.Met769Lys) | |
18 | g.23539887del | CA2580095526 | NPC1 | c.2719del (p.Met907TrpfsTer29) n.2633del n.510del c.1797del n.12del c.2770del (p.Met924TrpfsTer29) c.2305del (p.Met769TrpfsTer29) | ClinVar |
18 | g.23539887T>A | CA401792795 | NPC1 | c.2719A>T (p.Met907Leu) n.2633A>T n.510A>T c.1797A>T n.12A>T c.2770A>T (p.Met924Leu) c.2305A>T (p.Met769Leu) | |
18 | g.23539887T>C | CA8912992 | NPC1 | c.2719A>G (p.Met907Val) n.2633A>G n.510A>G c.1797A>G n.12A>G c.2770A>G (p.Met924Val) c.2305A>G (p.Met769Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539887T>G | CA401792796 | NPC1 | c.2719A>C (p.Met907Leu) n.2633A>C n.510A>C c.1797A>C n.12A>C c.2770A>C (p.Met924Leu) c.2305A>C (p.Met769Leu) | gnomAD v4 |
18 | g.23539887T= | CA2290165939 | NPC1 | c.2719A= (p.Met907=) n.2633A= n.510A= c.1797A= n.12A= c.2770A= (p.Met924=) c.2305A= (p.Met769=) | |
18 | g.23539888G>A | CA503322631 | NPC1 | c.2718C>T (p.Asn906=) n.2632C>T n.509C>T c.1796C>T n.11C>T c.2769C>T (p.Asn923=) c.2304C>T (p.Asn768=) | |
18 | g.23539888G>C | CA401792797 | NPC1 | c.2718C>G (p.Asn906Lys) n.2632C>G n.509C>G c.1796C>G n.11C>G c.2769C>G (p.Asn923Lys) c.2304C>G (p.Asn768Lys) | |
18 | g.23539888G>T | CA401792798 | NPC1 | c.2718C>A (p.Asn906Lys) n.2632C>A n.509C>A c.1796C>A n.11C>A c.2769C>A (p.Asn923Lys) c.2304C>A (p.Asn768Lys) | |
18 | g.23539889T>A | CA401792799 | NPC1 | c.2717A>T (p.Asn906Ile) n.2631A>T n.508A>T c.1795A>T n.10A>T c.2768A>T (p.Asn923Ile) c.2303A>T (p.Asn768Ile) | |
18 | g.23539889T>C | CA401792800 | NPC1 | c.2717A>G (p.Asn906Ser) n.2631A>G n.508A>G c.1795A>G n.10A>G c.2768A>G (p.Asn923Ser) c.2303A>G (p.Asn768Ser) | |
18 | g.23539889T>G | CA401792801 | NPC1 | c.2717A>C (p.Asn906Thr) n.2631A>C n.508A>C c.1795A>C n.10A>C c.2768A>C (p.Asn923Thr) c.2303A>C (p.Asn768Thr) | |
18 | g.23539890T>A | CA401792804 | NPC1 | c.2716A>T (p.Asn906Tyr) n.2630A>T n.507A>T c.1794A>T n.9A>T c.2767A>T (p.Asn923Tyr) c.2302A>T (p.Asn768Tyr) | |
18 | g.23539890T>C | CA401792803 | NPC1 | c.2716A>G (p.Asn906Asp) n.2630A>G n.507A>G c.1794A>G n.9A>G c.2767A>G (p.Asn923Asp) c.2302A>G (p.Asn768Asp) | gnomAD v4 |
18 | g.23539890T>G | CA401792802 | NPC1 | c.2716A>C (p.Asn906His) n.2630A>C n.507A>C c.1794A>C n.9A>C c.2767A>C (p.Asn923His) c.2302A>C (p.Asn768His) | |
18 | g.23539891C>A | CA401792806 | NPC1 | c.2715G>T (p.Gln905His) n.2629G>T n.506G>T c.1793G>T n.8G>T c.2766G>T (p.Gln922His) c.2301G>T (p.Gln767His) | |
18 | g.23539891C>G | CA401792805 | NPC1 | c.2715G>C (p.Gln905His) n.2629G>C n.506G>C c.1793G>C n.8G>C c.2766G>C (p.Gln922His) c.2301G>C (p.Gln767His) | |
18 | g.23539891C>T | CA503322632 | NPC1 | c.2715G>A (p.Gln905=) n.2629G>A n.506G>A c.1793G>A n.8G>A c.2766G>A (p.Gln922=) c.2301G>A (p.Gln767=) | ClinVar gnomAD v4 |
18 | g.23539892T>A | CA401792807 | NPC1 | c.2714A>T (p.Gln905Leu) n.2628A>T n.505A>T c.1792A>T n.7A>T c.2765A>T (p.Gln922Leu) c.2300A>T (p.Gln767Leu) | |
18 | g.23539892T>C | CA401792808 | NPC1 | c.2714A>G (p.Gln905Arg) n.2628A>G n.505A>G c.1792A>G n.7A>G c.2765A>G (p.Gln922Arg) c.2300A>G (p.Gln767Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23539892T>G | CA401792809 | NPC1 | c.2714A>C (p.Gln905Pro) n.2628A>C n.505A>C c.1792A>C n.7A>C c.2765A>C (p.Gln922Pro) c.2300A>C (p.Gln767Pro) | |
18 | g.23539892T= | CA2290165940 | NPC1 | c.2714A= (p.Gln905=) n.2628A= n.505A= c.1792A= n.7A= c.2765A= (p.Gln922=) c.2300A= (p.Gln767=) | |
18 | g.23539893G>A | CA16616710 | NPC1 | c.2713C>T (p.Gln905Ter) n.2627C>T n.504C>T c.1791C>T n.6C>T c.2764C>T (p.Gln922Ter) c.2299C>T (p.Gln767Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
18 | g.23539893G>C | CA401792810 | NPC1 | c.2713C>G (p.Gln905Glu) n.2627C>G n.504C>G c.1791C>G n.6C>G c.2764C>G (p.Gln922Glu) c.2299C>G (p.Gln767Glu) | |
18 | g.23539893G= | CA2290165941 | NPC1 | c.2713C= (p.Gln905=) n.2627C= n.504C= c.1791C= n.6C= c.2764C= (p.Gln922=) c.2299C= (p.Gln767=) | |
18 | g.23539893G>T | CA401792811 | NPC1 | c.2713C>A (p.Gln905Lys) n.2627C>A n.504C>A c.1791C>A n.6C>A c.2764C>A (p.Gln922Lys) c.2299C>A (p.Gln767Lys) | |
18 | g.23539893_23539894del | CA913014994 | NPC1 | c.2712_2713del (p.Gln905GlufsTer12) n.2626_2627del n.503_504del c.1790_1791del n.5_6del c.2763_2764del (p.Gln922GlufsTer12) c.2298_2299del (p.Gln767GlufsTer12) | |
18 | g.23539893_23539894delinsGC | CA2290165942 | NPC1 | c.2712_2713delinsGC (p.Gly904=) n.2626_2627delinsGC n.503_504delinsGC c.1790_1791delinsGC n.5_6delinsGC c.2763_2764delinsGC (p.Gly921=) c.2298_2299delinsGC (p.Gly766=) | |
18 | g.23539894C>A | CA8912993 | NPC1 | c.2712G>T (p.Gly904=) n.2626G>T n.503G>T c.1790G>T n.5G>T c.2763G>T (p.Gly921=) c.2298G>T (p.Gly766=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539894C= | CA2290165943 | NPC1 | c.2712G= (p.Gly904=) n.2626G= n.503G= c.1790G= n.5G= c.2763G= (p.Gly921=) c.2298G= (p.Gly766=) | |
18 | g.23539894C>G | CA503322634 | NPC1 | c.2712G>C (p.Gly904=) n.2626G>C n.503G>C c.1790G>C n.5G>C c.2763G>C (p.Gly921=) c.2298G>C (p.Gly766=) | |
18 | g.23539894C>T | CA503322633 | NPC1 | c.2712G>A (p.Gly904=) n.2626G>A n.503G>A c.1790G>A n.5G>A c.2763G>A (p.Gly921=) c.2298G>A (p.Gly766=) | |
18 | g.23539897del | CA658824816 | NPC1 | c.2712del (p.Gln905ArgfsTer?) n.2626del n.503del c.1790del n.5del c.2763del (p.Gln922ArgfsTer?) c.2298del (p.Gln767ArgfsTer?) | ClinVar dbSNP |
18 | g.23539895C>A | CA401792812 | NPC1 | c.2711G>T (p.Gly904Val) n.2625G>T n.502G>T c.1789G>T n.4G>T c.2762G>T (p.Gly921Val) c.2297G>T (p.Gly766Val) | |
18 | g.23539895C>G | CA401792813 | NPC1 | c.2711G>C (p.Gly904Ala) n.2625G>C n.502G>C c.1789G>C n.4G>C c.2762G>C (p.Gly921Ala) c.2297G>C (p.Gly766Ala) | |
18 | g.23539895C>T | CA401792814 | NPC1 | c.2711G>A (p.Gly904Glu) n.2625G>A n.502G>A c.1789G>A n.4G>A c.2762G>A (p.Gly921Glu) c.2297G>A (p.Gly766Glu) | gnomAD v4 |
18 | g.23539896C>A | CA401792815 | NPC1 | c.2710G>T (p.Gly904Trp) n.2624G>T n.501G>T c.1788G>T n.3G>T c.2761G>T (p.Gly921Trp) c.2296G>T (p.Gly766Trp) | |
18 | g.23539896C= | CA2290165944 | NPC1 | c.2710G= (p.Gly904=) n.2624G= n.501G= c.1788G= n.3G= c.2761G= (p.Gly921=) c.2296G= (p.Gly766=) | |
18 | g.23539896C>G | CA401792816 | NPC1 | c.2710G>C (p.Gly904Arg) n.2624G>C n.501G>C c.1788G>C n.3G>C c.2761G>C (p.Gly921Arg) c.2296G>C (p.Gly766Arg) | |
18 | g.23539896C>T | CA8912994 | NPC1 | c.2710G>A (p.Gly904Arg) n.2624G>A n.501G>A c.1788G>A n.3G>A c.2761G>A (p.Gly921Arg) c.2296G>A (p.Gly766Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.23539897C>A | CA401792817 | NPC1 | c.2709G>T (p.Lys903Asn) n.2623G>T n.500G>T c.1787G>T n.2G>T c.2760G>T (p.Lys920Asn) c.2295G>T (p.Lys765Asn) | |
18 | g.23539897C= | CA2290165945 | NPC1 | c.2709G= (p.Lys903=) n.2623G= n.500G= c.1787G= n.2G= c.2760G= (p.Lys920=) c.2295G= (p.Lys765=) | |
18 | g.23539897C>G | CA401792818 | NPC1 | c.2709G>C (p.Lys903Asn) n.2623G>C n.500G>C c.1787G>C n.2G>C c.2760G>C (p.Lys920Asn) c.2295G>C (p.Lys765Asn) | |
18 | g.23539897C>T | CA8912995 | NPC1 | c.2709G>A (p.Lys903=) n.2623G>A n.500G>A c.1787G>A n.2G>A c.2760G>A (p.Lys920=) c.2295G>A (p.Lys765=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539898T>A | CA401792819 | NPC1 | c.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) | |
18 | g.23539898T>C | CA401792820 | NPC1 | c.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) | |
18 | g.23539898T>G | CA401792821 | NPC1 | c.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) | |
18 | g.23539899T>A | CA401792822 | NPC1 | c.2707A>T (p.Lys903Ter) n.2621A>T n.498A>T c.1785A>T c.2758A>T (p.Lys920Ter) c.2293A>T (p.Lys765Ter) | |
18 | g.23539899T>C | CA401792823 | NPC1 | c.2707A>G (p.Lys903Glu) n.2621A>G n.498A>G c.1785A>G c.2758A>G (p.Lys920Glu) c.2293A>G (p.Lys765Glu) | |
18 | g.23539899T>G | CA401792824 | NPC1 | c.2707A>C (p.Lys903Gln) n.2621A>C n.498A>C c.1785A>C c.2758A>C (p.Lys920Gln) c.2293A>C (p.Lys765Gln) | |
18 | g.23539900G>A | CA503322635 | NPC1 | c.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 |
18 | g.23539900G>C | CA503322636 | NPC1 | c.2706C>G (p.Ser902=) n.2620C>G n.497C>G c.1784C>G c.2757C>G (p.Ser919=) c.2292C>G (p.Ser764=) | |
18 | g.23539900G= | CA2290165946 | NPC1 | c.2706C= (p.Ser902=) n.2620C= n.497C= c.1784C= c.2757C= (p.Ser919=) c.2292C= (p.Ser764=) | |
18 | g.23539900G>T | CA503322637 | NPC1 | c.2706C>A (p.Ser902=) n.2620C>A n.497C>A c.1784C>A c.2757C>A (p.Ser919=) c.2292C>A (p.Ser764=) | |
18 | g.23539901G>A | CA401792825 | NPC1 | c.2705C>T (p.Ser902Phe) n.2619C>T n.496C>T c.1783C>T c.2756C>T (p.Ser919Phe) c.2291C>T (p.Ser764Phe) | |
18 | g.23539901G>C | CA8912996 | NPC1 | c.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 |
18 | g.23539901G= | CA2290165947 | NPC1 | c.2705C= (p.Ser902=) n.2619C= n.496C= c.1783C= c.2756C= (p.Ser919=) c.2291C= (p.Ser764=) | |
18 | g.23539901G>T | CA401792826 | NPC1 | c.2705C>A (p.Ser902Tyr) n.2619C>A n.496C>A c.1783C>A c.2756C>A (p.Ser919Tyr) c.2291C>A (p.Ser764Tyr) | |
18 | g.23539902A>C | CA401792827 | NPC1 | c.2704T>G (p.Ser902Ala) n.2618T>G n.495T>G c.1782T>G c.2755T>G (p.Ser919Ala) c.2290T>G (p.Ser764Ala) | |
18 | g.23539902A>G | CA401792828 | NPC1 | c.2704T>C (p.Ser902Pro) n.2618T>C n.495T>C c.1782T>C c.2755T>C (p.Ser919Pro) c.2290T>C (p.Ser764Pro) | |
18 | g.23539902A>T | CA401792829 | NPC1 | c.2704T>A (p.Ser902Thr) n.2618T>A n.495T>A c.1782T>A c.2755T>A (p.Ser919Thr) c.2290T>A (p.Ser764Thr) | |
18 | g.23539903A>C | CA503322638 | NPC1 | c.2703T>G (p.Ser901=) n.2617T>G n.494T>G c.1781T>G c.2754T>G (p.Ser918=) c.2289T>G (p.Ser763=) | |
18 | g.23539903A>G | CA503322639 | NPC1 | c.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 |
18 | g.23539903A>T | CA503322640 | NPC1 | c.2703T>A (p.Ser901=) n.2617T>A n.494T>A c.1781T>A c.2754T>A (p.Ser918=) c.2289T>A (p.Ser763=) | |
18 | g.23539904G>A | CA401792831 | NPC1 | c.2702C>T (p.Ser901Phe) n.2616C>T n.493C>T c.1780C>T c.2753C>T (p.Ser918Phe) c.2288C>T (p.Ser763Phe) | |
18 | g.23539904G>C | CA401792832 | NPC1 | c.2702C>G (p.Ser901Cys) n.2616C>G n.493C>G c.1780C>G c.2753C>G (p.Ser918Cys) c.2288C>G (p.Ser763Cys) | |
18 | g.23539904G>T | CA401792830 | NPC1 | c.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 |
18 | g.23539905A>C | CA401792833 | NPC1 | c.2701T>G (p.Ser901Ala) n.2615T>G n.492T>G c.1779T>G c.2752T>G (p.Ser918Ala) c.2287T>G (p.Ser763Ala) | |
18 | g.23539905A>G | CA401792834 | NPC1 | c.2701T>C (p.Ser901Pro) n.2615T>C n.492T>C c.1779T>C c.2752T>C (p.Ser918Pro) c.2287T>C (p.Ser763Pro) | |
18 | g.23539905A>T | CA401792835 | NPC1 | c.2701T>A (p.Ser901Thr) n.2615T>A n.492T>A c.1779T>A c.2752T>A (p.Ser918Thr) c.2287T>A (p.Ser763Thr) | |
18 | g.23539906A= | CA2290165948 | NPC1 | c.2700T= (p.Thr900=) n.2614T= n.491T= c.1778T= c.2751T= (p.Thr917=) c.2286T= (p.Thr762=) | |
18 | g.23539906A>C | CA503322641 | NPC1 | c.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 |
18 | g.23539906A>G | CA8912997 | NPC1 | c.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 |
18 | g.23539906A>T | CA503322642 | NPC1 | c.2700T>A (p.Thr900=) n.2614T>A n.491T>A c.1778T>A c.2751T>A (p.Thr917=) c.2286T>A (p.Thr762=) | |
18 | g.23539907G>A | CA401792836 | NPC1 | c.2699C>T (p.Thr900Ile) n.2613C>T n.490C>T c.1777C>T c.2750C>T (p.Thr917Ile) c.2285C>T (p.Thr762Ile) | |
18 | g.23539907G>C | CA401792837 | NPC1 | c.2699C>G (p.Thr900Ser) n.2613C>G n.490C>G c.1777C>G c.2750C>G (p.Thr917Ser) c.2285C>G (p.Thr762Ser) | ClinVar |
18 | g.23539907G>T | CA401792838 | NPC1 | c.2699C>A (p.Thr900Asn) n.2613C>A n.490C>A c.1777C>A c.2750C>A (p.Thr917Asn) c.2285C>A (p.Thr762Asn) | |
18 | g.23539908T>A | CA401792841 | NPC1 | c.2698A>T (p.Thr900Ser) n.2612A>T n.489A>T c.1776A>T c.2749A>T (p.Thr917Ser) c.2284A>T (p.Thr762Ser) | |
18 | g.23539908T>C | CA401792839 | NPC1 | c.2698A>G (p.Thr900Ala) n.2612A>G n.489A>G c.1776A>G c.2749A>G (p.Thr917Ala) c.2284A>G (p.Thr762Ala) | |
18 | g.23539908T>G | CA401792840 | NPC1 | c.2698A>C (p.Thr900Pro) n.2612A>C n.489A>C c.1776A>C c.2749A>C (p.Thr917Pro) c.2284A>C (p.Thr762Pro) | |
18 | g.23539909G>A | CA503322643 | NPC1 | c.2697C>T (p.Tyr899=) n.2611C>T n.488C>T c.1775C>T c.2748C>T (p.Tyr916=) c.2283C>T (p.Tyr761=) | |
18 | g.23539909G>C | CA401792842 | NPC1 | c.2697C>G (p.Tyr899Ter) n.2611C>G n.488C>G c.1775C>G c.2748C>G (p.Tyr916Ter) c.2283C>G (p.Tyr761Ter) | |
18 | g.23539909G>T | CA401792843 | NPC1 | c.2697C>A (p.Tyr899Ter) n.2611C>A n.488C>A c.1775C>A c.2748C>A (p.Tyr916Ter) c.2283C>A (p.Tyr761Ter) | |
18 | g.23539910T>A | CA401792844 | NPC1 | c.2696A>T (p.Tyr899Phe) n.2610A>T n.487A>T c.1774A>T c.2747A>T (p.Tyr916Phe) c.2282A>T (p.Tyr761Phe) | |
18 | g.23539910T>C | CA401792845 | NPC1 | c.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 |
18 | g.23539910T>G | CA401792846 | NPC1 | c.2696A>C (p.Tyr899Ser) n.2610A>C n.487A>C c.1774A>C c.2747A>C (p.Tyr916Ser) c.2282A>C (p.Tyr761Ser) | |
18 | g.23539911A>C | CA401792847 | NPC1 | c.2695T>G (p.Tyr899Asp) n.2609T>G n.486T>G c.1773T>G c.2746T>G (p.Tyr916Asp) c.2281T>G (p.Tyr761Asp) | |
18 | g.23539911A>G | CA401792849 | NPC1 | c.2695T>C (p.Tyr899His) n.2609T>C n.486T>C c.1773T>C c.2746T>C (p.Tyr916His) c.2281T>C (p.Tyr761His) | ClinVar |
18 | g.23539911A>T | CA401792848 | NPC1 | c.2695T>A (p.Tyr899Asn) n.2609T>A n.486T>A c.1773T>A c.2746T>A (p.Tyr916Asn) c.2281T>A (p.Tyr761Asn) | |
18 | g.23539912G>A | CA8912998 | NPC1 | c.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 |
18 | g.23539912G>C | CA401792850 | NPC1 | c.2694C>G (p.Asp898Glu) n.2608C>G n.485C>G c.1772C>G c.2745C>G (p.Asp915Glu) c.2280C>G (p.Asp760Glu) | |
18 | g.23539912G= | CA2290165949 | NPC1 | c.2694C= (p.Asp898=) n.2608C= n.485C= c.1772C= c.2745C= (p.Asp915=) c.2280C= (p.Asp760=) | |
18 | g.23539912G>T | CA401792851 | NPC1 | c.2694C>A (p.Asp898Glu) n.2608C>A n.485C>A c.1772C>A c.2745C>A (p.Asp915Glu) c.2280C>A (p.Asp760Glu) | |
18 | g.23539913T>A | CA401792852 | NPC1 | c.2693A>T (p.Asp898Val) n.2607A>T n.484A>T c.1771A>T c.2744A>T (p.Asp915Val) c.2279A>T (p.Asp760Val) | |
18 | g.23539913T>C | CA401792853 | NPC1 | c.2693A>G (p.Asp898Gly) n.2607A>G n.484A>G c.1771A>G c.2744A>G (p.Asp915Gly) c.2279A>G (p.Asp760Gly) | |
18 | g.23539913T>G | CA401792854 | NPC1 | c.2693A>C (p.Asp898Ala) n.2607A>C n.484A>C c.1771A>C c.2744A>C (p.Asp915Ala) c.2279A>C (p.Asp760Ala) | |
18 | g.23539914C>A | CA401792855 | NPC1 | c.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 |
18 | g.23539914C= | CA2290165950 | NPC1 | c.2692G= (p.Asp898=) n.2606G= n.483G= c.1770G= c.2743G= (p.Asp915=) c.2278G= (p.Asp760=) | |
18 | g.23539914C>G | CA401792856 | NPC1 | c.2692G>C (p.Asp898His) n.2606G>C n.483G>C c.1770G>C c.2743G>C (p.Asp915His) c.2278G>C (p.Asp760His) | |
18 | g.23539914C>T | CA8912999 | NPC1 | c.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 |
18 | g.23539915G>A | CA8913000 | NPC1 | c.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 |
18 | g.23539915G>C | CA401792857 | NPC1 | c.2691C>G (p.His897Gln) n.2605C>G n.482C>G c.1769C>G c.2742C>G (p.His914Gln) c.2277C>G (p.His759Gln) | |
18 | g.23539915G= | CA2290165951 | NPC1 | c.2691C= (p.His897=) n.2605C= n.482C= c.1769C= c.2742C= (p.His914=) c.2277C= (p.His759=) | |
18 | g.23539915G>T | CA401792858 | NPC1 | c.2691C>A (p.His897Gln) n.2605C>A n.482C>A c.1769C>A c.2742C>A (p.His914Gln) c.2277C>A (p.His759Gln) | |
18 | g.23539916T>A | CA401792859 | NPC1 | c.2690A>T (p.His897Leu) n.2604A>T n.481A>T c.1768A>T c.2741A>T (p.His914Leu) c.2276A>T (p.His759Leu) | |
18 | g.23539916T>C | CA401792861 | NPC1 | c.2690A>G (p.His897Arg) n.2604A>G n.481A>G c.1768A>G c.2741A>G (p.His914Arg) c.2276A>G (p.His759Arg) | |
18 | g.23539916T>G | CA401792860 | NPC1 | c.2690A>C (p.His897Pro) n.2604A>C n.481A>C c.1768A>C c.2741A>C (p.His914Pro) c.2276A>C (p.His759Pro) | |
18 | g.23539917G>A | CA401792862 | NPC1 | c.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 |
18 | g.23539917G>C | CA401792863 | NPC1 | c.2689C>G (p.His897Asp) n.2603C>G n.480C>G c.1767C>G c.2740C>G (p.His914Asp) c.2275C>G (p.His759Asp) | |
18 | g.23539917G= | CA2290165952 | NPC1 | c.2689C= (p.His897=) n.2603C= n.480C= c.1767C= c.2740C= (p.His914=) c.2275C= (p.His759=) | |
18 | g.23539917G>T | CA401792864 | NPC1 | c.2689C>A (p.His897Asn) n.2603C>A n.480C>A c.1767C>A c.2740C>A (p.His914Asn) c.2275C>A (p.His759Asn) | |
18 | g.23539918C>A | CA503322646 | NPC1 | c.2688G>T (p.Gly896=) n.2602G>T n.479G>T c.1766G>T c.2739G>T (p.Gly913=) c.2274G>T (p.Gly758=) | |
18 | g.23539918C= | CA2290165953 | NPC1 | c.2688G= (p.Gly896=) n.2602G= n.479G= c.1766G= c.2739G= (p.Gly913=) c.2274G= (p.Gly758=) | |
18 | g.23539918C>G | CA503322644 | NPC1 | c.2688G>C (p.Gly896=) n.2602G>C n.479G>C c.1766G>C c.2739G>C (p.Gly913=) c.2274G>C (p.Gly758=) | |
18 | g.23539918C>T | CA503322645 | NPC1 | c.2688G>A (p.Gly896=) n.2602G>A n.479G>A c.1766G>A c.2739G>A (p.Gly913=) c.2274G>A (p.Gly758=) | dbSNP |
18 | g.23539919C>A | CA401792865 | NPC1 | c.2687G>T (p.Gly896Val) n.2601G>T n.478G>T c.1765G>T c.2738G>T (p.Gly913Val) c.2273G>T (p.Gly758Val) | |
18 | g.23539919C>G | CA401792866 | NPC1 | c.2687G>C (p.Gly896Ala) n.2601G>C n.478G>C c.1765G>C c.2738G>C (p.Gly913Ala) c.2273G>C (p.Gly758Ala) | |
18 | g.23539919C>T | CA401792867 | NPC1 | c.2687G>A (p.Gly896Glu) n.2601G>A n.478G>A c.1765G>A c.2738G>A (p.Gly913Glu) c.2273G>A (p.Gly758Glu) | |
18 | g.23539920C>A | CA401792870 | NPC1 | c.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 |
18 | g.23539920C>G | CA401792868 | NPC1 | c.2686G>C (p.Gly896Arg) n.2600G>C n.477G>C c.1764G>C c.2737G>C (p.Gly913Arg) c.2272G>C (p.Gly758Arg) | |
18 | g.23539920C>T | CA401792869 | NPC1 | c.2686G>A (p.Gly896Arg) n.2600G>A n.477G>A c.1764G>A c.2737G>A (p.Gly913Arg) c.2272G>A (p.Gly758Arg) | |
18 | g.23539921T>A | CA401792871 | NPC1 | c.2685A>T (p.Glu895Asp) n.2599A>T n.476A>T c.1763A>T c.2736A>T (p.Glu912Asp) c.2271A>T (p.Glu757Asp) | |
18 | g.23539921T>C | CA503322647 | NPC1 | c.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 |
18 | g.23539921T>G | CA401792872 | NPC1 | c.2685A>C (p.Glu895Asp) n.2599A>C n.476A>C c.1763A>C c.2736A>C (p.Glu912Asp) c.2271A>C (p.Glu757Asp) | |
18 | g.23539922dup | CA913014995 | NPC1 | c.2685dup (p.Gly896ArgfsTer22) n.2599dup n.476dup c.1763dup c.2736dup (p.Gly913ArgfsTer22) c.2271dup (p.Gly758ArgfsTer22) | |
18 | g.23539922T>A | CA401792873 | NPC1 | c.2684A>T (p.Glu895Val) n.2598A>T n.475A>T c.1762A>T c.2735A>T (p.Glu912Val) c.2270A>T (p.Glu757Val) | |
18 | g.23539922T>C | CA401792874 | NPC1 | c.2684A>G (p.Glu895Gly) n.2598A>G n.475A>G c.1762A>G c.2735A>G (p.Glu912Gly) c.2270A>G (p.Glu757Gly) | |
18 | g.23539922T>G | CA401792875 | NPC1 | c.2684A>C (p.Glu895Ala) n.2598A>C n.475A>C c.1762A>C c.2735A>C (p.Glu912Ala) c.2270A>C (p.Glu757Ala) | |
18 | g.23539922T= | CA2290165954 | NPC1 | c.2684A= (p.Glu895=) n.2598A= n.475A= c.1762A= c.2735A= (p.Glu912=) c.2270A= (p.Glu757=) | |
18 | g.23539923C>A | CA401792876 | NPC1 | c.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 |
18 | g.23539923C>G | CA401792878 | NPC1 | c.2683G>C (p.Glu895Gln) n.2597G>C n.474G>C c.1761G>C c.2734G>C (p.Glu912Gln) c.2269G>C (p.Glu757Gln) | |
18 | g.23539923C>T | CA401792877 | NPC1 | c.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 |
18 | g.23539924dup | CA658824817 | NPC1 | c.2683dup (p.Glu895GlyfsTer23) n.2597dup n.474dup c.1761dup c.2734dup (p.Glu912GlyfsTer23) c.2269dup (p.Glu757GlyfsTer23) | ClinVar dbSNP gnomAD v4 |
18 | g.23539923_23539924dup | CA2576470635 | NPC1 | c.2682_2683dup (p.Glu895GlyfsTer?) n.2596_2597dup n.473_474dup c.1760_1761dup c.2733_2734dup (p.Glu912GlyfsTer?) c.2268_2269dup (p.Glu757GlyfsTer?) | |
18 | g.23539924C>A | CA401792879 | NPC1 | c.2682G>T (p.Glu894Asp) n.2596G>T n.473G>T c.1760G>T c.2733G>T (p.Glu911Asp) c.2268G>T (p.Glu756Asp) | |
18 | g.23539924C>G | CA401792880 | NPC1 | c.2682G>C (p.Glu894Asp) n.2596G>C n.473G>C c.1760G>C c.2733G>C (p.Glu911Asp) c.2268G>C (p.Glu756Asp) | |
18 | g.23539924C>T | CA503322648 | NPC1 | c.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 |
18 | g.23539925T>A | CA401792881 | NPC1 | c.2681A>T (p.Glu894Val) n.2595A>T n.472A>T c.1759A>T c.2732A>T (p.Glu911Val) c.2267A>T (p.Glu756Val) | |
18 | g.23539925T>C | CA401792882 | NPC1 | c.2681A>G (p.Glu894Gly) n.2595A>G n.472A>G c.1759A>G c.2732A>G (p.Glu911Gly) c.2267A>G (p.Glu756Gly) | |
18 | g.23539925T>G | CA401792883 | NPC1 | c.2681A>C (p.Glu894Ala) n.2595A>C n.472A>C c.1759A>C c.2732A>C (p.Glu911Ala) c.2267A>C (p.Glu756Ala) | |
18 | g.23539926C>A | CA401792884 | NPC1 | c.2680G>T (p.Glu894Ter) n.2594G>T n.471G>T c.1758G>T c.2731G>T (p.Glu911Ter) c.2266G>T (p.Glu756Ter) | |
18 | g.23539926C>G | CA401792885 | NPC1 | c.2680G>C (p.Glu894Gln) n.2594G>C n.471G>C c.1758G>C c.2731G>C (p.Glu911Gln) c.2266G>C (p.Glu756Gln) | |
18 | g.23539926C>T | CA401792886 | NPC1 | c.2680G>A (p.Glu894Lys) n.2594G>A n.471G>A c.1758G>A c.2731G>A (p.Glu911Lys) c.2266G>A (p.Glu756Lys) | |
18 | g.23539927C>A | CA503322649 | NPC1 | c.2679G>T (p.Leu893=) n.2593G>T n.470G>T c.1757G>T c.2730G>T (p.Leu910=) c.2265G>T (p.Leu755=) | |
18 | g.23539927C= | CA2290165955 | NPC1 | c.2679G= (p.Leu893=) n.2593G= n.470G= c.1757G= c.2730G= (p.Leu910=) c.2265G= (p.Leu755=) | |
18 | g.23539927C>G | CA503322650 | NPC1 | c.2679G>C (p.Leu893=) n.2593G>C n.470G>C c.1757G>C c.2730G>C (p.Leu910=) c.2265G>C (p.Leu755=) | |
18 | g.23539927C>T | CA503322651 | NPC1 | c.2679G>A (p.Leu893=) n.2593G>A n.470G>A c.1757G>A c.2730G>A (p.Leu910=) c.2265G>A (p.Leu755=) | |
18 | g.23539928A>C | CA401792887 | NPC1 | c.2678T>G (p.Leu893Arg) n.2592T>G n.469T>G c.1756T>G c.2729T>G (p.Leu910Arg) c.2264T>G (p.Leu755Arg) | |
18 | g.23539928A>G | CA401792888 | NPC1 | c.2678T>C (p.Leu893Pro) n.2592T>C n.469T>C c.1756T>C c.2729T>C (p.Leu910Pro) c.2264T>C (p.Leu755Pro) | |
18 | g.23539928A>T | CA401792889 | NPC1 | c.2678T>A (p.Leu893Gln) n.2592T>A n.469T>A c.1756T>A c.2729T>A (p.Leu910Gln) c.2264T>A (p.Leu755Gln) | |
18 | g.23539928dup | CA628978766 | NPC1 | c.2678dup (p.Glu894GlyfsTer24) n.2592dup n.469dup c.1756dup c.2729dup (p.Glu911GlyfsTer24) c.2264dup (p.Glu756GlyfsTer24) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539929G>A | CA10606616 | NPC1 | c.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 |
18 | g.23539929G>C | CA401792890 | NPC1 | c.2677C>G (p.Leu893Val) n.2591C>G n.468C>G c.1755C>G c.2728C>G (p.Leu910Val) c.2263C>G (p.Leu755Val) | |
18 | g.23539929G= | CA2290165956 | NPC1 | c.2677C= (p.Leu893=) n.2591C= n.468C= c.1755C= c.2728C= (p.Leu910=) c.2263C= (p.Leu755=) | |
18 | g.23539929G>T | CA8913001 | NPC1 | c.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 |
18 | g.23539930G>A | CA503322652 | NPC1 | c.2676C>T (p.Val892=) n.2590C>T n.467C>T c.1754C>T c.2727C>T (p.Val909=) c.2262C>T (p.Val754=) | |
18 | g.23539930G>C | CA503322653 | NPC1 | c.2676C>G (p.Val892=) n.2590C>G n.467C>G c.1754C>G c.2727C>G (p.Val909=) c.2262C>G (p.Val754=) | |
18 | g.23539930G>T | CA503322654 | NPC1 | c.2676C>A (p.Val892=) n.2590C>A n.467C>A c.1754C>A c.2727C>A (p.Val909=) c.2262C>A (p.Val754=) | |
18 | g.23539931A>C | CA401792891 | NPC1 | c.2675T>G (p.Val892Gly) n.2589T>G n.466T>G c.1753T>G c.2726T>G (p.Val909Gly) c.2261T>G (p.Val754Gly) | |
18 | g.23539931A>G | CA401792893 | NPC1 | c.2675T>C (p.Val892Ala) n.2589T>C n.466T>C c.1753T>C c.2726T>C (p.Val909Ala) c.2261T>C (p.Val754Ala) | |
18 | g.23539931A>T | CA401792892 | NPC1 | c.2675T>A (p.Val892Asp) n.2589T>A n.466T>A c.1753T>A c.2726T>A (p.Val909Asp) c.2261T>A (p.Val754Asp) | |
18 | g.23539932C>A | CA401792894 | NPC1 | c.2674G>T (p.Val892Phe) n.2588G>T n.465G>T c.1752G>T c.2725G>T (p.Val909Phe) c.2260G>T (p.Val754Phe) | |
18 | g.23539932C>G | CA401792896 | NPC1 | c.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 |
18 | g.23539932C>T | CA401792895 | NPC1 | c.2674G>A (p.Val892Ile) n.2588G>A n.465G>A c.1752G>A c.2725G>A (p.Val909Ile) c.2260G>A (p.Val754Ile) | ClinVar |
18 | g.23539933A>C | CA401792897 | NPC1 | c.2673T>G (p.Phe891Leu) n.2587T>G n.464T>G c.1751T>G c.2724T>G (p.Phe908Leu) c.2259T>G (p.Phe753Leu) | |
18 | g.23539933A>G | CA503322655 | NPC1 | c.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 |
18 | g.23539933A>T | CA401792898 | NPC1 | c.2673T>A (p.Phe891Leu) n.2587T>A n.464T>A c.1751T>A c.2724T>A (p.Phe908Leu) c.2259T>A (p.Phe753Leu) | |
18 | g.23539934A>C | CA401792899 | NPC1 | c.2672T>G (p.Phe891Cys) n.2586T>G n.463T>G c.1750T>G c.2723T>G (p.Phe908Cys) c.2258T>G (p.Phe753Cys) | |
18 | g.23539934A>G | CA401792901 | NPC1 | c.2672T>C (p.Phe891Ser) n.2586T>C n.463T>C c.1750T>C c.2723T>C (p.Phe908Ser) c.2258T>C (p.Phe753Ser) | |
18 | g.23539934A>T | CA401792900 | NPC1 | c.2672T>A (p.Phe891Tyr) n.2586T>A n.463T>A c.1750T>A c.2723T>A (p.Phe908Tyr) c.2258T>A (p.Phe753Tyr) | |
18 | g.23539935A>C | CA401792902 | NPC1 | c.2671T>G (p.Phe891Val) n.2585T>G n.462T>G c.1749T>G c.2722T>G (p.Phe908Val) c.2257T>G (p.Phe753Val) | |
18 | g.23539935A>G | CA401792904 | NPC1 | c.2671T>C (p.Phe891Leu) n.2585T>C n.462T>C c.1749T>C c.2722T>C (p.Phe908Leu) c.2257T>C (p.Phe753Leu) | |
18 | g.23539935A>T | CA401792903 | NPC1 | c.2671T>A (p.Phe891Ile) n.2585T>A n.462T>A c.1749T>A c.2722T>A (p.Phe908Ile) c.2257T>A (p.Phe753Ile) | |
18 | g.23539936G>A | CA8913002 | NPC1 | c.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 |
18 | g.23539936G>C | CA8913003 | NPC1 | c.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 |
18 | g.23539936G= | CA2290165957 | NPC1 | c.2670C= (p.Tyr890=) n.2584C= n.461C= c.1748C= c.2721C= (p.Tyr907=) c.2256C= (p.Tyr752=) | |
18 | g.23539936G>T | CA401792905 | NPC1 | c.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 |
18 | g.23539937T>A | CA401792906 | NPC1 | c.2669A>T (p.Tyr890Phe) n.2583A>T n.460A>T c.1747A>T c.2720A>T (p.Tyr907Phe) c.2255A>T (p.Tyr752Phe) | |
18 | g.23539937T>C | CA401792907 | NPC1 | c.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 |
18 | g.23539937T>G | CA401792908 | NPC1 | c.2669A>C (p.Tyr890Ser) n.2583A>C n.460A>C c.1747A>C c.2720A>C (p.Tyr907Ser) c.2255A>C (p.Tyr752Ser) | |
18 | g.23539938A>C | CA401792909 | NPC1 | c.2668T>G (p.Tyr890Asp) n.2582T>G n.459T>G c.1746T>G c.2719T>G (p.Tyr907Asp) c.2254T>G (p.Tyr752Asp) | |
18 | g.23539938A>G | CA401792910 | NPC1 | c.2668T>C (p.Tyr890His) n.2582T>C n.459T>C c.1746T>C c.2719T>C (p.Tyr907His) c.2254T>C (p.Tyr752His) | |
18 | g.23539938A>T | CA401792911 | NPC1 | c.2668T>A (p.Tyr890Asn) n.2582T>A n.459T>A c.1746T>A c.2719T>A (p.Tyr907Asn) c.2254T>A (p.Tyr752Asn) | |
18 | g.23539939C>A | CA503322656 | NPC1 | c.2667G>T (p.Val889=) n.2581G>T n.458G>T c.1745G>T c.2718G>T (p.Val906=) c.2253G>T (p.Val751=) | |
18 | g.23539939C= | CA2290165958 | NPC1 | c.2667G= (p.Val889=) n.2581G= n.458G= c.1745G= c.2718G= (p.Val906=) c.2253G= (p.Val751=) | |
18 | g.23539939C>G | CA503322657 | NPC1 | c.2667G>C (p.Val889=) n.2581G>C n.458G>C c.1745G>C c.2718G>C (p.Val906=) c.2253G>C (p.Val751=) | |
18 | g.23539939C>T | CA8913004 | NPC1 | c.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 |
18 | g.23539940A>C | CA401792912 | NPC1 | c.2666T>G (p.Val889Gly) n.2580T>G n.457T>G c.1744T>G c.2717T>G (p.Val906Gly) c.2252T>G (p.Val751Gly) | |
18 | g.23539940A>G | CA401792913 | NPC1 | c.2666T>C (p.Val889Ala) n.2580T>C n.457T>C c.1744T>C c.2717T>C (p.Val906Ala) c.2252T>C (p.Val751Ala) | |
18 | g.23539940A>T | CA401792914 | NPC1 | c.2666T>A (p.Val889Glu) n.2580T>A n.457T>A c.1744T>A c.2717T>A (p.Val906Glu) c.2252T>A (p.Val751Glu) | |
18 | g.23539941C>A | CA401792916 | NPC1 | c.2665G>T (p.Val889Leu) n.2579G>T n.456G>T c.1743G>T c.2716G>T (p.Val906Leu) c.2251G>T (p.Val751Leu) | |
18 | g.23539941C= | CA2290165959 | NPC1 | c.2665G= (p.Val889=) n.2579G= n.456G= c.1743G= c.2716G= (p.Val906=) c.2251G= (p.Val751=) | |
18 | g.23539941C>G | CA401792915 | NPC1 | c.2665G>C (p.Val889Leu) n.2579G>C n.456G>C c.1743G>C c.2716G>C (p.Val906Leu) c.2251G>C (p.Val751Leu) | |
18 | g.23539941C>T | CA115896 | NPC1 | c.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 |
18 | g.23539942A= | CA2290165960 | NPC1 | c.2664T= (p.Pro888=) n.2578T= n.455T= c.1742T= c.2715T= (p.Pro905=) c.2250T= (p.Pro750=) | |
18 | g.23539942A>C | CA503322658 | NPC1 | c.2664T>G (p.Pro888=) n.2578T>G n.455T>G c.1742T>G c.2715T>G (p.Pro905=) c.2250T>G (p.Pro750=) | |
18 | g.23539942A>G | CA8913005 | NPC1 | c.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 |
18 | g.23539942A>T | CA503322659 | NPC1 | c.2664T>A (p.Pro888=) n.2578T>A n.455T>A c.1742T>A c.2715T>A (p.Pro905=) c.2250T>A (p.Pro750=) | |
18 | g.23539942dup | CA1139665982 | NPC1 | c.2664dup (p.Val889CysfsTer29) n.2578dup n.455dup c.1742dup c.2715dup (p.Val906CysfsTer29) c.2250dup (p.Val751CysfsTer29) | ClinVar dbSNP |
18 | g.23539943G>A | CA401792917 | NPC1 | c.2663C>T (p.Pro888Leu) n.2577C>T n.454C>T c.1741C>T c.2714C>T (p.Pro905Leu) c.2249C>T (p.Pro750Leu) | |
18 | g.23539943G>C | CA401792918 | NPC1 | c.2663C>G (p.Pro888Arg) n.2577C>G n.454C>G c.1741C>G c.2714C>G (p.Pro905Arg) c.2249C>G (p.Pro750Arg) | |
18 | g.23539943G>T | CA401792919 | NPC1 | c.2663C>A (p.Pro888His) n.2577C>A n.454C>A c.1741C>A c.2714C>A (p.Pro905His) c.2249C>A (p.Pro750His) | COSMIC |
18 | g.23539944G>A | CA401792920 | NPC1 | c.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 |
18 | g.23539944G>C | CA401792921 | NPC1 | c.2662C>G (p.Pro888Ala) n.2576C>G n.453C>G c.1740C>G c.2713C>G (p.Pro905Ala) c.2248C>G (p.Pro750Ala) | |
18 | g.23539944G= | CA2290165961 | NPC1 | c.2662C= (p.Pro888=) n.2576C= n.453C= c.1740C= c.2713C= (p.Pro905=) c.2248C= (p.Pro750=) | |
18 | g.23539944G>T | CA401792922 | NPC1 | c.2662C>A (p.Pro888Thr) n.2576C>A n.453C>A c.1740C>A c.2713C>A (p.Pro905Thr) c.2248C>A (p.Pro750Thr) | |
18 | g.23539945C>A | CA503322660 | NPC1 | c.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 |
18 | g.23539945C= | CA2290165962 | NPC1 | c.2661G= (p.Pro887=) n.2575G= n.452G= c.1739G= c.2712G= (p.Pro904=) c.2247G= (p.Pro749=) | |
18 | g.23539945C>G | CA503322661 | NPC1 | c.2661G>C (p.Pro887=) n.2575G>C n.452G>C c.1739G>C c.2712G>C (p.Pro904=) c.2247G>C (p.Pro749=) | |
18 | g.23539945C>T | CA8913006 | NPC1 | c.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 |
18 | g.23539946G>A | CA401792923 | NPC1 | c.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 |
18 | g.23539946G>C | CA401792924 | NPC1 | c.2660C>G (p.Pro887Arg) n.2574C>G n.451C>G c.1738C>G c.2711C>G (p.Pro904Arg) c.2246C>G (p.Pro749Arg) | |
18 | g.23539946G= | CA2290165963 | NPC1 | c.2660C= (p.Pro887=) n.2574C= n.451C= c.1738C= c.2711C= (p.Pro904=) c.2246C= (p.Pro749=) | |
18 | g.23539946G>T | CA401792925 | NPC1 | c.2660C>A (p.Pro887Gln) n.2574C>A n.451C>A c.1738C>A c.2711C>A (p.Pro904Gln) c.2246C>A (p.Pro749Gln) | |
18 | g.23539947G>A | CA401792926 | NPC1 | c.2659C>T (p.Pro887Ser) n.2573C>T n.450C>T c.1737C>T c.2710C>T (p.Pro904Ser) c.2245C>T (p.Pro749Ser) | |
18 | g.23539947G>C | CA401792927 | NPC1 | c.2659C>G (p.Pro887Ala) n.2573C>G n.450C>G c.1737C>G c.2710C>G (p.Pro904Ala) c.2245C>G (p.Pro749Ala) | |
18 | g.23539947G>T | CA401792928 | NPC1 | c.2659C>A (p.Pro887Thr) n.2573C>A n.450C>A c.1737C>A c.2710C>A (p.Pro904Thr) c.2245C>A (p.Pro749Thr) | |
18 | g.23539948A>C | CA503322662 | NPC1 | c.2658T>G (p.Gly886=) n.2572T>G n.449T>G c.1736T>G c.2709T>G (p.Gly903=) c.2244T>G (p.Gly748=) | |
18 | g.23539948A>G | CA503322664 | NPC1 | c.2658T>C (p.Gly886=) n.2572T>C n.449T>C c.1736T>C c.2709T>C (p.Gly903=) c.2244T>C (p.Gly748=) | |
18 | g.23539948A>T | CA503322663 | NPC1 | c.2658T>A (p.Gly886=) n.2572T>A n.449T>A c.1736T>A c.2709T>A (p.Gly903=) c.2244T>A (p.Gly748=) | |
18 | g.23539949C>A | CA401792931 | NPC1 | c.2657G>T (p.Gly886Val) n.2571G>T n.448G>T c.1735G>T c.2708G>T (p.Gly903Val) c.2243G>T (p.Gly748Val) | |
18 | g.23539949C>G | CA401792930 | NPC1 | c.2657G>C (p.Gly886Ala) n.2571G>C n.448G>C c.1735G>C c.2708G>C (p.Gly903Ala) c.2243G>C (p.Gly748Ala) | |
18 | g.23539949C>T | CA401792929 | NPC1 | c.2657G>A (p.Gly886Asp) n.2571G>A n.448G>A c.1735G>A c.2708G>A (p.Gly903Asp) c.2243G>A (p.Gly748Asp) | |
18 | g.23539950C>A | CA401792932 | NPC1 | c.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 |
18 | g.23539950C>G | CA401792933 | NPC1 | c.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 |
18 | g.23539950C>T | CA401792934 | NPC1 | c.2656G>A (p.Gly886Ser) n.2570G>A n.447G>A c.1734G>A c.2707G>A (p.Gly903Ser) c.2242G>A (p.Gly748Ser) | |
18 | g.23539951C>A | CA503322665 | NPC1 | c.2655G>T (p.Ala885=) n.2569G>T n.446G>T c.1733G>T c.2706G>T (p.Ala902=) c.2241G>T (p.Ala747=) | |
18 | g.23539951C= | CA2290165964 | NPC1 | c.2655G= (p.Ala885=) n.2569G= n.446G= c.1733G= c.2706G= (p.Ala902=) c.2241G= (p.Ala747=) | |
18 | g.23539951C>G | CA503322666 | NPC1 | c.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 |
18 | g.23539951C>T | CA297081478 | NPC1 | c.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 |
18 | g.23539952G>A | CA8913007 | NPC1 | c.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 |
18 | g.23539952G>C | CA401792935 | NPC1 | c.2654C>G (p.Ala885Gly) n.2568C>G n.445C>G c.1732C>G c.2705C>G (p.Ala902Gly) c.2240C>G (p.Ala747Gly) | |
18 | g.23539952G= | CA2290165965 | NPC1 | c.2654C= (p.Ala885=) n.2568C= n.445C= c.1732C= c.2705C= (p.Ala902=) c.2240C= (p.Ala747=) | |
18 | g.23539952G>T | CA401792936 | NPC1 | c.2654C>A (p.Ala885Glu) n.2568C>A n.445C>A c.1732C>A c.2705C>A (p.Ala902Glu) c.2240C>A (p.Ala747Glu) | |
18 | g.23539953C>A | CA401792937 | NPC1 | c.2653G>T (p.Ala885Ser) n.2567G>T n.444G>T c.1731G>T c.2704G>T (p.Ala902Ser) c.2239G>T (p.Ala747Ser) | |
18 | g.23539953C>G | CA401792938 | NPC1 | c.2653G>C (p.Ala885Pro) n.2567G>C n.444G>C c.1731G>C c.2704G>C (p.Ala902Pro) c.2239G>C (p.Ala747Pro) | |
18 | g.23539953C>T | CA401792939 | NPC1 | c.2653G>A (p.Ala885Thr) n.2567G>A n.444G>A c.1731G>A c.2704G>A (p.Ala902Thr) c.2239G>A (p.Ala747Thr) | |
18 | g.23539954A= | CA2290165966 | NPC1 | c.2652T= (p.His884=) n.2566T= n.443T= c.1730T= c.2703T= (p.His901=) c.2238T= (p.His746=) | |
18 | g.23539954A>C | CA401792940 | NPC1 | c.2652T>G (p.His884Gln) n.2566T>G n.443T>G c.1730T>G c.2703T>G (p.His901Gln) c.2238T>G (p.His746Gln) | |
18 | g.23539954A>G | CA8913008 | NPC1 | c.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 |
18 | g.23539954A>T | CA401792941 | NPC1 | c.2652T>A (p.His884Gln) n.2566T>A n.443T>A c.1730T>A c.2703T>A (p.His901Gln) c.2238T>A (p.His746Gln) |