Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.23539897dup | CA2838390636 | NPC1 | c.2712dup (p.Gln905AlafsTer13) n.2626dup n.503dup c.1790dup n.5dup c.2763dup (p.Gln922AlafsTer13) c.2298dup (p.Gln767AlafsTer13) | |
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) | |
18 | g.23539955T>A | CA401792944 | NPC1 | c.2651A>T (p.His884Leu) n.2565A>T n.442A>T c.1729A>T c.2702A>T (p.His901Leu) c.2237A>T (p.His746Leu) | |
18 | g.23539955T>C | CA401792943 | NPC1 | c.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 |
18 | g.23539955T>G | CA401792942 | NPC1 | c.2651A>C (p.His884Pro) n.2565A>C n.442A>C c.1729A>C c.2702A>C (p.His901Pro) c.2237A>C (p.His746Pro) | |
18 | g.23539955T= | CA2290165967 | NPC1 | c.2651A= (p.His884=) n.2565A= n.442A= c.1729A= c.2702A= (p.His901=) c.2237A= (p.His746=) | |
18 | g.23539956G>A | CA401792945 | NPC1 | c.2650C>T (p.His884Tyr) n.2564C>T n.441C>T c.1728C>T c.2701C>T (p.His901Tyr) c.2236C>T (p.His746Tyr) | |
18 | g.23539956G>C | CA401792946 | NPC1 | c.2650C>G (p.His884Asp) n.2564C>G n.441C>G c.1728C>G c.2701C>G (p.His901Asp) c.2236C>G (p.His746Asp) | |
18 | g.23539956G>T | CA401792947 | NPC1 | c.2650C>A (p.His884Asn) n.2564C>A n.441C>A c.1728C>A c.2701C>A (p.His901Asn) c.2236C>A (p.His746Asn) | |
18 | g.23539957C>A | CA503322667 | NPC1 | c.2649G>T (p.Leu883=) n.2563G>T n.440G>T c.1727G>T c.2700G>T (p.Leu900=) c.2235G>T (p.Leu745=) | |
18 | g.23539957C= | CA2290165968 | NPC1 | c.2649G= (p.Leu883=) n.2563G= n.440G= c.1727G= c.2700G= (p.Leu900=) c.2235G= (p.Leu745=) | |
18 | g.23539957C>G | CA503322668 | NPC1 | c.2649G>C (p.Leu883=) n.2563G>C n.440G>C c.1727G>C c.2700G>C (p.Leu900=) c.2235G>C (p.Leu745=) | |
18 | g.23539957C>T | CA503322669 | NPC1 | c.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 |
18 | g.23539958A>C | CA401792948 | NPC1 | c.2648T>G (p.Leu883Arg) n.2562T>G n.439T>G c.1726T>G c.2699T>G (p.Leu900Arg) c.2234T>G (p.Leu745Arg) | |
18 | g.23539958A>G | CA401792949 | NPC1 | c.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 |
18 | g.23539958A>T | CA401792950 | NPC1 | c.2648T>A (p.Leu883Gln) n.2562T>A n.439T>A c.1726T>A c.2699T>A (p.Leu900Gln) c.2234T>A (p.Leu745Gln) | |
18 | g.23539959G>A | CA503322670 | NPC1 | c.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 |
18 | g.23539959G>C | CA401792951 | NPC1 | c.2647C>G (p.Leu883Val) n.2561C>G n.438C>G c.1725C>G c.2698C>G (p.Leu900Val) c.2233C>G (p.Leu745Val) | |
18 | g.23539959G>T | CA401792952 | NPC1 | c.2647C>A (p.Leu883Met) n.2561C>A n.438C>A c.1725C>A c.2698C>A (p.Leu900Met) c.2233C>A (p.Leu745Met) | |
18 | g.23539960del | CA2580095530 | NPC1 | c.2647del (p.Leu883CysfsTer?) n.2561del n.438del c.1725del c.2698del (p.Leu900CysfsTer?) c.2233del (p.Leu745CysfsTer?) | ClinVar |
18 | g.23539960G>A | CA503322671 | NPC1 | c.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 |
18 | g.23539960G>C | CA401792953 | NPC1 | c.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 |
18 | g.23539960G>T | CA401792954 | NPC1 | c.2646C>A (p.Tyr882Ter) n.2560C>A n.437C>A c.1724C>A c.2697C>A (p.Tyr899Ter) c.2232C>A (p.Tyr744Ter) | |
18 | g.23539961T>A | CA401792955 | NPC1 | c.2645A>T (p.Tyr882Phe) n.2559A>T n.436A>T c.1723A>T c.2696A>T (p.Tyr899Phe) c.2231A>T (p.Tyr744Phe) | |
18 | g.23539961T>C | CA8913009 | NPC1 | c.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 |
18 | g.23539961T>G | CA401792956 | NPC1 | c.2645A>C (p.Tyr882Ser) n.2559A>C n.436A>C c.1723A>C c.2696A>C (p.Tyr899Ser) c.2231A>C (p.Tyr744Ser) | |
18 | g.23539961T= | CA2290165969 | NPC1 | c.2645A= (p.Tyr882=) n.2559A= n.436A= c.1723A= c.2696A= (p.Tyr899=) c.2231A= (p.Tyr744=) | |
18 | g.23539961_23539965delinsTACTG | CA2290165970 | NPC1 | c.2641_2645delinsCAGTA (p.Gln881=) n.2555_2559delinsCAGTA n.432_436delinsCAGTA c.1719_1723delinsCAGTA c.2692_2696delinsCAGTA (p.Gln898=) c.2227_2231delinsCAGTA (p.Gln743=) | |
18 | g.23539962A= | CA2290165972 | NPC1 | c.2644T= (p.Tyr882=) n.2558T= n.435T= c.1722T= c.2695T= (p.Tyr899=) c.2230T= (p.Tyr744=) | |
18 | g.23539962A>C | CA401792958 | NPC1 | c.2644T>G (p.Tyr882Asp) n.2558T>G n.435T>G c.1722T>G c.2695T>G (p.Tyr899Asp) c.2230T>G (p.Tyr744Asp) | |
18 | g.23539962A>G | CA8913010 | NPC1 | c.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 |
18 | g.23539962A>T | CA401792957 | NPC1 | c.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 |
18 | g.23539967_23539970del | CA2290165971 | NPC1 | c.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 |
18 | g.23539963C>A | CA401792959 | NPC1 | c.2643G>T (p.Gln881His) n.2557G>T n.434G>T c.1721G>T c.2694G>T (p.Gln898His) c.2229G>T (p.Gln743His) | |
18 | g.23539963C= | CA2290165973 | NPC1 | c.2643G= (p.Gln881=) n.2557G= n.434G= c.1721G= c.2694G= (p.Gln898=) c.2229G= (p.Gln743=) | |
18 | g.23539963C>G | CA401792960 | NPC1 | c.2643G>C (p.Gln881His) n.2557G>C n.434G>C c.1721G>C c.2694G>C (p.Gln898His) c.2229G>C (p.Gln743His) | |
18 | g.23539963C>T | CA503322672 | NPC1 | c.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 |
18 | g.23539964T>A | CA401792961 | NPC1 | c.2642A>T (p.Gln881Leu) n.2556A>T n.433A>T c.1720A>T c.2693A>T (p.Gln898Leu) c.2228A>T (p.Gln743Leu) | |
18 | g.23539964T>C | CA401792962 | NPC1 | c.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 |
18 | g.23539964T>G | CA401792963 | NPC1 | c.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 |
18 | g.23539964T= | CA2290165974 | NPC1 | c.2642A= (p.Gln881=) n.2556A= n.433A= c.1720A= c.2693A= (p.Gln898=) c.2228A= (p.Gln743=) | |
18 | g.23539965G>A | CA401792964 | NPC1 | c.2641C>T (p.Gln881Ter) n.2555C>T n.432C>T c.1719C>T c.2692C>T (p.Gln898Ter) c.2227C>T (p.Gln743Ter) | ClinVar |
18 | g.23539965G>C | CA401792965 | NPC1 | c.2641C>G (p.Gln881Glu) n.2555C>G n.432C>G c.1719C>G c.2692C>G (p.Gln898Glu) c.2227C>G (p.Gln743Glu) | |
18 | g.23539965G>T | CA401792966 | NPC1 | c.2641C>A (p.Gln881Lys) n.2555C>A n.432C>A c.1719C>A c.2692C>A (p.Gln898Lys) c.2227C>A (p.Gln743Lys) | |
18 | g.23539966A>C | CA401792967 | NPC1 | c.2640T>G (p.Ser880Arg) n.2554T>G n.431T>G c.1718T>G c.2691T>G (p.Ser897Arg) c.2226T>G (p.Ser742Arg) | |
18 | g.23539966A>G | CA503322673 | NPC1 | c.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 |
18 | g.23539966A>T | CA401792968 | NPC1 | c.2640T>A (p.Ser880Arg) n.2554T>A n.431T>A c.1718T>A c.2691T>A (p.Ser897Arg) c.2226T>A (p.Ser742Arg) | |
18 | g.23539967C>A | CA401792969 | NPC1 | c.2639G>T (p.Ser880Ile) n.2553G>T n.430G>T c.1717G>T c.2690G>T (p.Ser897Ile) c.2225G>T (p.Ser742Ile) | |
18 | g.23539967C>G | CA401792970 | NPC1 | c.2639G>C (p.Ser880Thr) n.2553G>C n.430G>C c.1717G>C c.2690G>C (p.Ser897Thr) c.2225G>C (p.Ser742Thr) | |
18 | g.23539967C>T | CA401792971 | NPC1 | c.2639G>A (p.Ser880Asn) n.2553G>A n.430G>A c.1717G>A c.2690G>A (p.Ser897Asn) c.2225G>A (p.Ser742Asn) | |
18 | g.23539968T>A | CA401792974 | NPC1 | c.2638A>T (p.Ser880Cys) n.2552A>T n.429A>T c.1716A>T c.2689A>T (p.Ser897Cys) c.2224A>T (p.Ser742Cys) | |
18 | g.23539968T>C | CA401792973 | NPC1 | c.2638A>G (p.Ser880Gly) n.2552A>G n.429A>G c.1716A>G c.2689A>G (p.Ser897Gly) c.2224A>G (p.Ser742Gly) | |
18 | g.23539968T>G | CA401792972 | NPC1 | c.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 |
18 | g.23539969G>A | CA503322674 | NPC1 | c.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 |
18 | g.23539969G>C | CA401792975 | NPC1 | c.2637C>G (p.Ile879Met) n.2551C>G n.428C>G c.1715C>G c.2688C>G (p.Ile896Met) c.2223C>G (p.Ile741Met) | |
18 | g.23539969G>T | CA503322675 | NPC1 | c.2637C>A (p.Ile879=) n.2551C>A n.428C>A c.1715C>A c.2688C>A (p.Ile896=) c.2223C>A (p.Ile741=) | |
18 | g.23539970A>C | CA401792976 | NPC1 | c.2636T>G (p.Ile879Ser) n.2550T>G n.427T>G c.1714T>G c.2687T>G (p.Ile896Ser) c.2222T>G (p.Ile741Ser) | |
18 | g.23539970A>G | CA401792977 | NPC1 | c.2636T>C (p.Ile879Thr) n.2550T>C n.427T>C c.1714T>C c.2687T>C (p.Ile896Thr) c.2222T>C (p.Ile741Thr) | |
18 | g.23539970A>T | CA401792978 | NPC1 | c.2636T>A (p.Ile879Asn) n.2550T>A n.427T>A c.1714T>A c.2687T>A (p.Ile896Asn) c.2222T>A (p.Ile741Asn) | |
18 | g.23539970_23539971dup | CA2695227444 | NPC1 | c.2635_2636dup (p.Gln881ValfsTer?) n.2549_2550dup n.426_427dup c.1713_1714dup c.2686_2687dup (p.Gln898ValfsTer?) c.2221_2222dup (p.Gln743ValfsTer?) | |
18 | g.23539971T>A | CA401792979 | NPC1 | c.2635A>T (p.Ile879Phe) n.2549A>T n.426A>T c.1713A>T c.2686A>T (p.Ile896Phe) c.2221A>T (p.Ile741Phe) | |
18 | g.23539971T>C | CA297081493 | NPC1 | c.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 |
18 | g.23539971T>G | CA401792980 | NPC1 | c.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 |
18 | g.23539971T= | CA2290165975 | NPC1 | c.2635A= (p.Ile879=) n.2549A= n.426A= c.1713A= c.2686A= (p.Ile896=) c.2221A= (p.Ile741=) | |
18 | g.23539972G>A | CA503322676 | NPC1 | c.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 |
18 | g.23539972G>C | CA503322677 | NPC1 | c.2634C>G (p.Ser878=) n.2548C>G n.425C>G c.1712C>G c.2685C>G (p.Ser895=) c.2220C>G (p.Ser740=) | |
18 | g.23539972G= | CA2290165976 | NPC1 | c.2634C= (p.Ser878=) n.2548C= n.425C= c.1712C= c.2685C= (p.Ser895=) c.2220C= (p.Ser740=) | |
18 | g.23539972G>T | CA503322678 | NPC1 | c.2634C>A (p.Ser878=) n.2548C>A n.425C>A c.1712C>A c.2685C>A (p.Ser895=) c.2220C>A (p.Ser740=) | |
18 | g.23539973G>A | CA401792981 | NPC1 | c.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 |
18 | g.23539973G>C | CA401792982 | NPC1 | c.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 |
18 | g.23539973G>T | CA401792983 | NPC1 | c.2633C>A (p.Ser878Tyr) n.2547C>A n.424C>A c.1711C>A c.2684C>A (p.Ser895Tyr) c.2219C>A (p.Ser740Tyr) | |
18 | g.23539974A>C | CA401792984 | NPC1 | c.2632T>G (p.Ser878Ala) n.2546T>G n.423T>G c.1710T>G c.2683T>G (p.Ser895Ala) c.2218T>G (p.Ser740Ala) | |
18 | g.23539974A>G | CA401792985 | NPC1 | c.2632T>C (p.Ser878Pro) n.2546T>C n.423T>C c.1710T>C c.2683T>C (p.Ser895Pro) c.2218T>C (p.Ser740Pro) | |
18 | g.23539974A>T | CA401792986 | NPC1 | c.2632T>A (p.Ser878Thr) n.2546T>A n.423T>A c.1710T>A c.2683T>A (p.Ser895Thr) c.2218T>A (p.Ser740Thr) | |
18 | g.23539975T>A | CA401792987 | NPC1 | c.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 |
18 | g.23539975T>C | CA503322679 | NPC1 | c.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 |
18 | g.23539975T>G | CA401792988 | NPC1 | c.2631A>C (p.Lys877Asn) n.2545A>C n.422A>C c.1709A>C c.2682A>C (p.Lys894Asn) c.2217A>C (p.Lys739Asn) | |
18 | g.23539976T>A | CA401792989 | NPC1 | c.2630A>T (p.Lys877Ile) n.2544A>T n.421A>T c.1708A>T c.2681A>T (p.Lys894Ile) c.2216A>T (p.Lys739Ile) | |
18 | g.23539976T>C | CA401792990 | NPC1 | c.2630A>G (p.Lys877Arg) n.2544A>G n.421A>G c.1708A>G c.2681A>G (p.Lys894Arg) c.2216A>G (p.Lys739Arg) | |
18 | g.23539976T>G | CA8913011 | NPC1 | c.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 |
18 | g.23539976T= | CA2290165977 | NPC1 | c.2630A= (p.Lys877=) n.2544A= n.421A= c.1708A= c.2681A= (p.Lys894=) c.2216A= (p.Lys739=) | |
18 | g.23539977T>A | CA401792991 | NPC1 | c.2629A>T (p.Lys877Ter) n.2543A>T n.420A>T c.1707A>T c.2680A>T (p.Lys894Ter) c.2215A>T (p.Lys739Ter) | |
18 | g.23539977T>C | CA401792992 | NPC1 | c.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 |
18 | g.23539977T>G | CA401792993 | NPC1 | c.2629A>C (p.Lys877Gln) n.2543A>C n.420A>C c.1707A>C c.2680A>C (p.Lys894Gln) c.2215A>C (p.Lys739Gln) | |
18 | g.23539978G>A | CA503322680 | NPC1 | c.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 |
18 | g.23539978G>C | CA401792994 | NPC1 | c.2628C>G (p.Phe876Leu) n.2542C>G n.419C>G c.1706C>G c.2679C>G (p.Phe893Leu) c.2214C>G (p.Phe738Leu) | |
18 | g.23539978G= | CA2290165978 | NPC1 | c.2628C= (p.Phe876=) n.2542C= n.419C= c.1706C= c.2679C= (p.Phe893=) c.2214C= (p.Phe738=) | |
18 | g.23539978G>T | CA401792995 | NPC1 | c.2628C>A (p.Phe876Leu) n.2542C>A n.419C>A c.1706C>A c.2679C>A (p.Phe893Leu) c.2214C>A (p.Phe738Leu) | |
18 | g.23539979A>C | CA401792996 | NPC1 | c.2627T>G (p.Phe876Cys) n.2541T>G n.418T>G c.1705T>G c.2678T>G (p.Phe893Cys) c.2213T>G (p.Phe738Cys) | |
18 | g.23539979A>G | CA401792997 | NPC1 | c.2627T>C (p.Phe876Ser) n.2541T>C n.418T>C c.1705T>C c.2678T>C (p.Phe893Ser) c.2213T>C (p.Phe738Ser) | |
18 | g.23539979A>T | CA401792998 | NPC1 | c.2627T>A (p.Phe876Tyr) n.2541T>A n.418T>A c.1705T>A c.2678T>A (p.Phe893Tyr) c.2213T>A (p.Phe738Tyr) | |
18 | g.23539980A>C | CA401792999 | NPC1 | c.2626T>G (p.Phe876Val) n.2540T>G n.417T>G c.1704T>G c.2677T>G (p.Phe893Val) c.2212T>G (p.Phe738Val) | |
18 | g.23539980A>G | CA401793000 | NPC1 | c.2626T>C (p.Phe876Leu) n.2540T>C n.417T>C c.1704T>C c.2677T>C (p.Phe893Leu) c.2212T>C (p.Phe738Leu) | |
18 | g.23539980A>T | CA401793001 | NPC1 | c.2626T>A (p.Phe876Ile) n.2540T>A n.417T>A c.1704T>A c.2677T>A (p.Phe893Ile) c.2212T>A (p.Phe738Ile) | |
18 | g.23539981A= | CA2290165979 | NPC1 | c.2625T= (p.Tyr875=) n.2539T= n.416T= c.1703T= c.2676T= (p.Tyr892=) c.2211T= (p.Tyr737=) | |
18 | g.23539981A>C | CA401793002 | NPC1 | c.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 |
18 | g.23539981A>G | CA503322681 | NPC1 | c.2625T>C (p.Tyr875=) n.2539T>C n.416T>C c.1703T>C c.2676T>C (p.Tyr892=) c.2211T>C (p.Tyr737=) | |
18 | g.23539981A>T | CA401793003 | NPC1 | c.2625T>A (p.Tyr875Ter) n.2539T>A n.416T>A c.1703T>A c.2676T>A (p.Tyr892Ter) c.2211T>A (p.Tyr737Ter) | |
18 | g.23539982T>A | CA401793004 | NPC1 | c.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 |
18 | g.23539982T>C | CA401793005 | NPC1 | c.2624A>G (p.Tyr875Cys) n.2538A>G n.415A>G c.1702A>G c.2675A>G (p.Tyr892Cys) c.2210A>G (p.Tyr737Cys) | |
18 | g.23539982T>G | CA401793006 | NPC1 | c.2624A>C (p.Tyr875Ser) n.2538A>C n.415A>C c.1702A>C c.2675A>C (p.Tyr892Ser) c.2210A>C (p.Tyr737Ser) | |
18 | g.23539983A>C | CA401793007 | NPC1 | c.2623T>G (p.Tyr875Asp) n.2537T>G n.414T>G c.1701T>G c.2674T>G (p.Tyr892Asp) c.2209T>G (p.Tyr737Asp) | |
18 | g.23539983A>G | CA401793008 | NPC1 | c.2623T>C (p.Tyr875His) n.2537T>C n.414T>C c.1701T>C c.2674T>C (p.Tyr892His) c.2209T>C (p.Tyr737His) | |
18 | g.23539983A>T | CA401793009 | NPC1 | c.2623T>A (p.Tyr875Asn) n.2537T>A n.414T>A c.1701T>A c.2674T>A (p.Tyr892Asn) c.2209T>A (p.Tyr737Asn) | |
18 | g.23539984A>C | CA401793010 | NPC1 | c.2622T>G (p.Asp874Glu) n.2536T>G n.413T>G c.1700T>G c.2673T>G (p.Asp891Glu) c.2208T>G (p.Asp736Glu) | |
18 | g.23539984A>G | CA503322682 | NPC1 | c.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 |
18 | g.23539984A>T | CA401793011 | NPC1 | c.2622T>A (p.Asp874Glu) n.2536T>A n.413T>A c.1700T>A c.2673T>A (p.Asp891Glu) c.2208T>A (p.Asp736Glu) | |
18 | g.23539984_23539985insAAAACTTAAAACTCTTGTTTATA | CA2641273874 | NPC1 | c.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 |
18 | g.23539985T>A | CA275049 | NPC1 | c.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 |
18 | g.23539985T>C | CA401793012 | NPC1 | c.2621A>G (p.Asp874Gly) n.2535A>G n.412A>G c.1699A>G c.2672A>G (p.Asp891Gly) c.2207A>G (p.Asp736Gly) | |
18 | g.23539985T>G | CA401793013 | NPC1 | c.2621A>C (p.Asp874Ala) n.2535A>C n.412A>C c.1699A>C c.2672A>C (p.Asp891Ala) c.2207A>C (p.Asp736Ala) | |
18 | g.23539985T= | CA2290165980 | NPC1 | c.2621A= (p.Asp874=) n.2535A= n.412A= c.1699A= c.2672A= (p.Asp891=) c.2207A= (p.Asp736=) | |
18 | g.23539986C>A | CA401793014 | NPC1 | c.2620G>T (p.Asp874Tyr) n.2534G>T n.411G>T c.1698G>T c.2671G>T (p.Asp891Tyr) c.2206G>T (p.Asp736Tyr) | |
18 | g.23539986C>G | CA401793016 | NPC1 | c.2620G>C (p.Asp874His) n.2534G>C n.411G>C c.1698G>C c.2671G>C (p.Asp891His) c.2206G>C (p.Asp736His) | |
18 | g.23539986C>T | CA401793015 | NPC1 | c.2620G>A (p.Asp874Asn) n.2534G>A n.411G>A c.1698G>A c.2671G>A (p.Asp891Asn) c.2206G>A (p.Asp736Asn) | |
18 | g.23539987C>A | CA503322683 | NPC1 | c.2619G>T (p.Val873=) n.2533G>T n.410G>T c.1697G>T c.2670G>T (p.Val890=) c.2205G>T (p.Val735=) | |
18 | g.23539987C= | CA2290165981 | NPC1 | c.2619G= (p.Val873=) n.2533G= n.410G= c.1697G= c.2670G= (p.Val890=) c.2205G= (p.Val735=) | |
18 | g.23539987C>G | CA503322684 | NPC1 | c.2619G>C (p.Val873=) n.2533G>C n.410G>C c.1697G>C c.2670G>C (p.Val890=) c.2205G>C (p.Val735=) | |
18 | g.23539987C>T | CA503322685 | NPC1 | c.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 |
18 | g.23539988A>C | CA401793017 | NPC1 | c.2618T>G (p.Val873Gly) n.2532T>G n.409T>G c.1696T>G c.2669T>G (p.Val890Gly) c.2204T>G (p.Val735Gly) | |
18 | g.23539988A>G | CA401793019 | NPC1 | c.2618T>C (p.Val873Ala) n.2532T>C n.409T>C c.1696T>C c.2669T>C (p.Val890Ala) c.2204T>C (p.Val735Ala) | |
18 | g.23539988A>T | CA401793018 | NPC1 | c.2618T>A (p.Val873Glu) n.2532T>A n.409T>A c.1696T>A c.2669T>A (p.Val890Glu) c.2204T>A (p.Val735Glu) | |
18 | g.23539989C>A | CA401793020 | NPC1 | c.2617G>T (p.Val873Leu) n.2531G>T n.408G>T c.1695G>T c.2668G>T (p.Val890Leu) c.2203G>T (p.Val735Leu) | |
18 | g.23539989C= | CA2290165982 | NPC1 | c.2617G= (p.Val873=) n.2531G= n.408G= c.1695G= c.2668G= (p.Val890=) c.2203G= (p.Val735=) | |
18 | g.23539989C>G | CA401793021 | NPC1 | c.2617G>C (p.Val873Leu) n.2531G>C n.408G>C c.1695G>C c.2668G>C (p.Val890Leu) c.2203G>C (p.Val735Leu) | |
18 | g.23539989C>T | CA401793022 | NPC1 | c.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 |
18 | g.23539990C>A | CA401793023 | NPC1 | c.2616G>T (p.Met872Ile) n.2530G>T n.407G>T c.1694G>T c.2667G>T (p.Met889Ile) c.2202G>T (p.Met734Ile) | |
18 | g.23539990C= | CA2290165983 | NPC1 | c.2616G= (p.Met872=) n.2530G= n.407G= c.1694G= c.2667G= (p.Met889=) c.2202G= (p.Met734=) | |
18 | g.23539990C>G | CA401793024 | NPC1 | c.2616G>C (p.Met872Ile) n.2530G>C n.407G>C c.1694G>C c.2667G>C (p.Met889Ile) c.2202G>C (p.Met734Ile) | dbSNP |
18 | g.23539990C>T | CA401793025 | NPC1 | c.2616G>A (p.Met872Ile) n.2530G>A n.407G>A c.1694G>A c.2667G>A (p.Met889Ile) c.2202G>A (p.Met734Ile) | |
18 | g.23539991A= | CA2290165984 | NPC1 | c.2615T= (p.Met872=) n.2529T= n.406T= c.1693T= c.2666T= (p.Met889=) c.2201T= (p.Met734=) | |
18 | g.23539991A>C | CA401793028 | NPC1 | c.2615T>G (p.Met872Arg) n.2529T>G n.406T>G c.1693T>G c.2666T>G (p.Met889Arg) c.2201T>G (p.Met734Arg) | |
18 | g.23539991A>G | CA401793026 | NPC1 | c.2615T>C (p.Met872Thr) n.2529T>C n.406T>C c.1693T>C c.2666T>C (p.Met889Thr) c.2201T>C (p.Met734Thr) | dbSNP |
18 | g.23539991A>T | CA401793027 | NPC1 | c.2615T>A (p.Met872Lys) n.2529T>A n.406T>A c.1693T>A c.2666T>A (p.Met889Lys) c.2201T>A (p.Met734Lys) |