Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23539436C>A | CA401792545 | NPC1 | c.2830G>T (p.Asp944Tyr) c.1908G>T n.463G>T c.2881G>T (p.Asp961Tyr) c.2416G>T (p.Asp806Tyr) | |
18 | g.23539436C= | CA2290165749 | NPC1 | c.2830G= (p.Asp944=) c.1908G= n.463G= c.2881G= (p.Asp961=) c.2416G= (p.Asp806=) | |
18 | g.23539436C>G | CA401792546 | NPC1 | c.2830G>C (p.Asp944His) c.1908G>C n.463G>C c.2881G>C (p.Asp961His) c.2416G>C (p.Asp806His) | |
18 | g.23539436C>T | CA8912946 | NPC1 | c.2830G>A (p.Asp944Asn) c.1908G>A n.463G>A c.2881G>A (p.Asp961Asn) c.2416G>A (p.Asp806Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539437G>A | CA503322571 | NPC1 | c.2829C>T (p.Ile943=) c.1907C>T n.462C>T c.2880C>T (p.Ile960=) c.2415C>T (p.Ile805=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539437G>C | CA401792547 | NPC1 | c.2829C>G (p.Ile943Met) c.1907C>G n.462C>G c.2880C>G (p.Ile960Met) c.2415C>G (p.Ile805Met) | gnomAD v4 |
18 | g.23539437G= | CA2290165750 | NPC1 | c.2829C= (p.Ile943=) c.1907C= n.462C= c.2880C= (p.Ile960=) c.2415C= (p.Ile805=) | |
18 | g.23539437G>T | CA503322572 | NPC1 | c.2829C>A (p.Ile943=) c.1907C>A n.462C>A c.2880C>A (p.Ile960=) c.2415C>A (p.Ile805=) | |
18 | g.23539438A>C | CA401792548 | NPC1 | c.2828T>G (p.Ile943Ser) c.1906T>G n.461T>G c.2879T>G (p.Ile960Ser) c.2414T>G (p.Ile805Ser) | |
18 | g.23539438A>G | CA401792549 | NPC1 | c.2828T>C (p.Ile943Thr) c.1906T>C n.461T>C c.2879T>C (p.Ile960Thr) c.2414T>C (p.Ile805Thr) | |
18 | g.23539438A>T | CA401792550 | NPC1 | c.2828T>A (p.Ile943Asn) c.1906T>A n.461T>A c.2879T>A (p.Ile960Asn) c.2414T>A (p.Ile805Asn) | |
18 | g.23539439T>A | CA401792551 | NPC1 | c.2827A>T (p.Ile943Phe) c.1905A>T n.460A>T c.2878A>T (p.Ile960Phe) c.2413A>T (p.Ile805Phe) | |
18 | g.23539439T>C | CA401792552 | NPC1 | c.2827A>G (p.Ile943Val) c.1905A>G n.460A>G c.2878A>G (p.Ile960Val) c.2413A>G (p.Ile805Val) | gnomAD v4 |
18 | g.23539439T>G | CA401792553 | NPC1 | c.2827A>C (p.Ile943Leu) c.1905A>C n.460A>C c.2878A>C (p.Ile960Leu) c.2413A>C (p.Ile805Leu) | |
18 | g.23539440C>A | CA401792555 | NPC1 | c.2826G>T (p.Trp942Cys) c.1904G>T n.459G>T c.2877G>T (p.Trp959Cys) c.2412G>T (p.Trp804Cys) | gnomAD v4 |
18 | g.23539440C>G | CA401792556 | NPC1 | c.2826G>C (p.Trp942Cys) c.1904G>C n.459G>C c.2877G>C (p.Trp959Cys) c.2412G>C (p.Trp804Cys) | gnomAD v4 |
18 | g.23539440C>T | CA401792554 | NPC1 | c.2826G>A (p.Trp942Ter) c.1904G>A n.459G>A c.2877G>A (p.Trp959Ter) c.2412G>A (p.Trp804Ter) | |
18 | g.23539441C>A | CA401792557 | NPC1 | c.2825G>T (p.Trp942Leu) c.1903G>T n.458G>T c.2876G>T (p.Trp959Leu) c.2411G>T (p.Trp804Leu) | |
18 | g.23539441C= | CA2290165751 | NPC1 | c.2825G= (p.Trp942=) c.1903G= n.458G= c.2876G= (p.Trp959=) c.2411G= (p.Trp804=) | |
18 | g.23539441C>G | CA401792558 | NPC1 | c.2825G>C (p.Trp942Ser) c.1903G>C n.458G>C c.2876G>C (p.Trp959Ser) c.2411G>C (p.Trp804Ser) | |
18 | g.23539441C>T | CA401792559 | NPC1 | c.2825G>A (p.Trp942Ter) c.1903G>A n.458G>A c.2876G>A (p.Trp959Ter) c.2411G>A (p.Trp804Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539442A>C | CA401792560 | NPC1 | c.2824T>G (p.Trp942Gly) c.1902T>G n.457T>G c.2875T>G (p.Trp959Gly) c.2410T>G (p.Trp804Gly) | |
18 | g.23539442A>G | CA401792561 | NPC1 | c.2824T>C (p.Trp942Arg) c.1902T>C n.457T>C c.2875T>C (p.Trp959Arg) c.2410T>C (p.Trp804Arg) | |
18 | g.23539442A>T | CA401792562 | NPC1 | c.2824T>A (p.Trp942Arg) c.1902T>A n.457T>A c.2875T>A (p.Trp959Arg) c.2410T>A (p.Trp804Arg) | |
18 | g.23539443G>A | CA503322574 | NPC1 | c.2823C>T (p.Ser941=) c.1901C>T n.456C>T c.2874C>T (p.Ser958=) c.2409C>T (p.Ser803=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23539443G>C | CA503322575 | NPC1 | c.2823C>G (p.Ser941=) c.1901C>G n.456C>G c.2874C>G (p.Ser958=) c.2409C>G (p.Ser803=) | dbSNP |
18 | g.23539443G= | CA2290165752 | NPC1 | c.2823C= (p.Ser941=) c.1901C= n.456C= c.2874C= (p.Ser958=) c.2409C= (p.Ser803=) | |
18 | g.23539443G>T | CA503322573 | NPC1 | c.2823C>A (p.Ser941=) c.1901C>A n.456C>A c.2874C>A (p.Ser958=) c.2409C>A (p.Ser803=) | |
18 | g.23539444del | CA2499225061 | NPC1 | c.2823del (p.Trp942GlyfsTer9) c.1901del n.456del c.2874del (p.Trp959GlyfsTer9) c.2409del (p.Trp804GlyfsTer9) | ClinVar dbSNP |
18 | g.23539444G>A | CA401792563 | NPC1 | c.2822C>T (p.Ser941Phe) c.1900C>T n.455C>T c.2873C>T (p.Ser958Phe) c.2408C>T (p.Ser803Phe) | |
18 | g.23539444G>C | CA401792564 | NPC1 | c.2822C>G (p.Ser941Cys) c.1900C>G n.455C>G c.2873C>G (p.Ser958Cys) c.2408C>G (p.Ser803Cys) | |
18 | g.23539444G>T | CA401792565 | NPC1 | c.2822C>A (p.Ser941Tyr) c.1900C>A n.455C>A c.2873C>A (p.Ser958Tyr) c.2408C>A (p.Ser803Tyr) | |
18 | g.23539445A>C | CA401792566 | NPC1 | c.2821T>G (p.Ser941Ala) c.1899T>G n.454T>G c.2872T>G (p.Ser958Ala) c.2407T>G (p.Ser803Ala) | |
18 | g.23539445A>G | CA401792567 | NPC1 | c.2821T>C (p.Ser941Pro) c.1899T>C n.454T>C c.2872T>C (p.Ser958Pro) c.2407T>C (p.Ser803Pro) | |
18 | g.23539445A>T | CA401792568 | NPC1 | c.2821T>A (p.Ser941Thr) c.1899T>A n.454T>A c.2872T>A (p.Ser958Thr) c.2407T>A (p.Ser803Thr) | |
18 | g.23539446C>A | CA503322576 | NPC1 | c.2820G>T (p.Ser940=) c.1898G>T n.453G>T c.2871G>T (p.Ser957=) c.2406G>T (p.Ser802=) | |
18 | g.23539446C= | CA2290165753 | NPC1 | c.2820G= (p.Ser940=) c.1898G= n.453G= c.2871G= (p.Ser957=) c.2406G= (p.Ser802=) | |
18 | g.23539446C>G | CA503322577 | NPC1 | c.2820G>C (p.Ser940=) c.1898G>C n.453G>C c.2871G>C (p.Ser957=) c.2406G>C (p.Ser802=) | |
18 | g.23539446C>T | CA8912947 | NPC1 | c.2820G>A (p.Ser940=) c.1898G>A n.453G>A c.2871G>A (p.Ser957=) c.2406G>A (p.Ser802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539447G>A | CA273881 | NPC1 | c.2819C>T (p.Ser940Leu) c.1897C>T n.452C>T c.2870C>T (p.Ser957Leu) c.2405C>T (p.Ser802Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539447G>C | CA401792570 | NPC1 | c.2819C>G (p.Ser940Trp) c.1897C>G n.452C>G c.2870C>G (p.Ser957Trp) c.2405C>G (p.Ser802Trp) | |
18 | g.23539447G= | CA2290165754 | NPC1 | c.2819C= (p.Ser940=) c.1897C= n.452C= c.2870C= (p.Ser957=) c.2405C= (p.Ser802=) | |
18 | g.23539447G>T | CA401792569 | NPC1 | c.2819C>A (p.Ser940Ter) c.1897C>A n.452C>A c.2870C>A (p.Ser957Ter) c.2405C>A (p.Ser802Ter) | |
18 | g.23539448A>C | CA401792571 | NPC1 | c.2818T>G (p.Ser940Ala) c.1896T>G n.451T>G c.2869T>G (p.Ser957Ala) c.2404T>G (p.Ser802Ala) | |
18 | g.23539448A>G | CA401792572 | NPC1 | c.2818T>C (p.Ser940Pro) c.1896T>C n.451T>C c.2869T>C (p.Ser957Pro) c.2404T>C (p.Ser802Pro) | ClinVar |
18 | g.23539448A>T | CA401792573 | NPC1 | c.2818T>A (p.Ser940Thr) c.1896T>A n.451T>A c.2869T>A (p.Ser957Thr) c.2404T>A (p.Ser802Thr) | |
18 | g.23539449G>A | CA297081193 | NPC1 | c.2817C>T (p.Pro939=) c.1895C>T n.450C>T c.2868C>T (p.Pro956=) c.2403C>T (p.Pro801=) | dbSNP |
18 | g.23539449G>C | CA8912948 | NPC1 | c.2817C>G (p.Pro939=) c.1895C>G n.450C>G c.2868C>G (p.Pro956=) c.2403C>G (p.Pro801=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539449G= | CA2290165755 | NPC1 | c.2817C= (p.Pro939=) c.1895C= n.450C= c.2868C= (p.Pro956=) c.2403C= (p.Pro801=) | |
18 | g.23539449G>T | CA503322578 | NPC1 | c.2817C>A (p.Pro939=) c.1895C>A n.450C>A c.2868C>A (p.Pro956=) c.2403C>A (p.Pro801=) | gnomAD v4 |
18 | g.23539453del | CA2641273127 | NPC1 | c.2817del (p.Ser940ArgfsTer11) c.1895del n.450del c.2868del (p.Ser957ArgfsTer11) c.2403del (p.Ser802ArgfsTer11) | gnomAD v4 |
18 | g.23539450G>A | CA401792574 | NPC1 | c.2816C>T (p.Pro939Leu) c.1894C>T n.449C>T c.2867C>T (p.Pro956Leu) c.2402C>T (p.Pro801Leu) | |
18 | g.23539450G>C | CA401792575 | NPC1 | c.2816C>G (p.Pro939Arg) c.1894C>G n.449C>G c.2867C>G (p.Pro956Arg) c.2402C>G (p.Pro801Arg) | |
18 | g.23539450G>T | CA401792576 | NPC1 | c.2816C>A (p.Pro939His) c.1894C>A n.449C>A c.2867C>A (p.Pro956His) c.2402C>A (p.Pro801His) | |
18 | g.23539451G>A | CA401792577 | NPC1 | c.2815C>T (p.Pro939Ser) c.1893C>T n.448C>T c.2866C>T (p.Pro956Ser) c.2401C>T (p.Pro801Ser) | gnomAD v4 |
18 | g.23539451G>C | CA8912949 | NPC1 | c.2815C>G (p.Pro939Ala) c.1893C>G n.448C>G c.2866C>G (p.Pro956Ala) c.2401C>G (p.Pro801Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539451G= | CA2290165756 | NPC1 | c.2815C= (p.Pro939=) c.1893C= n.448C= c.2866C= (p.Pro956=) c.2401C= (p.Pro801=) | |
18 | g.23539451G>T | CA401792578 | NPC1 | c.2815C>A (p.Pro939Thr) c.1893C>A n.448C>A c.2866C>A (p.Pro956Thr) c.2401C>A (p.Pro801Thr) | |
18 | g.23539452G>A | CA503322579 | NPC1 | c.2814C>T (p.Ala938=) c.1892C>T n.447C>T c.2865C>T (p.Ala955=) c.2400C>T (p.Ala800=) | |
18 | g.23539452G>C | CA503322580 | NPC1 | c.2814C>G (p.Ala938=) c.1892C>G n.447C>G c.2865C>G (p.Ala955=) c.2400C>G (p.Ala800=) | |
18 | g.23539452G>T | CA503322581 | NPC1 | c.2814C>A (p.Ala938=) c.1892C>A n.447C>A c.2865C>A (p.Ala955=) c.2400C>A (p.Ala800=) | |
18 | g.23539453G>A | CA401792579 | NPC1 | c.2813C>T (p.Ala938Val) c.1891C>T n.446C>T c.2864C>T (p.Ala955Val) c.2399C>T (p.Ala800Val) | |
18 | g.23539453G>C | CA401792580 | NPC1 | c.2813C>G (p.Ala938Gly) c.1891C>G n.446C>G c.2864C>G (p.Ala955Gly) c.2399C>G (p.Ala800Gly) | |
18 | g.23539453G>T | CA401792581 | NPC1 | c.2813C>A (p.Ala938Asp) c.1891C>A n.446C>A c.2864C>A (p.Ala955Asp) c.2399C>A (p.Ala800Asp) | |
18 | g.23539454C>A | CA401792582 | NPC1 | c.2812G>T (p.Ala938Ser) c.1890G>T n.445G>T c.2863G>T (p.Ala955Ser) c.2398G>T (p.Ala800Ser) | |
18 | g.23539454C= | CA2290165757 | NPC1 | c.2812G= (p.Ala938=) c.1890G= n.445G= c.2863G= (p.Ala955=) c.2398G= (p.Ala800=) | |
18 | g.23539454C>G | CA401792583 | NPC1 | c.2812G>C (p.Ala938Pro) c.1890G>C n.445G>C c.2863G>C (p.Ala955Pro) c.2398G>C (p.Ala800Pro) | |
18 | g.23539454C>T | CA8912950 | NPC1 | c.2812G>A (p.Ala938Thr) c.1890G>A n.445G>A c.2863G>A (p.Ala955Thr) c.2398G>A (p.Ala800Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539455G>A | CA8912951 | NPC1 | c.2811C>T (p.Phe937=) c.1889C>T n.444C>T c.2862C>T (p.Phe954=) c.2397C>T (p.Phe799=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.23539455G>C | CA401792584 | NPC1 | c.2811C>G (p.Phe937Leu) c.1889C>G n.444C>G c.2862C>G (p.Phe954Leu) c.2397C>G (p.Phe799Leu) | |
18 | g.23539455G= | CA2290165758 | NPC1 | c.2811C= (p.Phe937=) c.1889C= n.444C= c.2862C= (p.Phe954=) c.2397C= (p.Phe799=) | |
18 | g.23539455G>T | CA401792585 | NPC1 | c.2811C>A (p.Phe937Leu) c.1889C>A n.444C>A c.2862C>A (p.Phe954Leu) c.2397C>A (p.Phe799Leu) | dbSNP |
18 | g.23539456A>C | CA401792586 | NPC1 | c.2810T>G (p.Phe937Cys) c.1888T>G n.443T>G c.2861T>G (p.Phe954Cys) c.2396T>G (p.Phe799Cys) | |
18 | g.23539456A>G | CA401792587 | NPC1 | c.2810T>C (p.Phe937Ser) c.1888T>C n.443T>C c.2861T>C (p.Phe954Ser) c.2396T>C (p.Phe799Ser) | |
18 | g.23539456A>T | CA401792588 | NPC1 | c.2810T>A (p.Phe937Tyr) c.1888T>A n.443T>A c.2861T>A (p.Phe954Tyr) c.2396T>A (p.Phe799Tyr) | |
18 | g.23539457A>C | CA401792589 | NPC1 | c.2809T>G (p.Phe937Val) c.1887T>G n.442T>G c.2860T>G (p.Phe954Val) c.2395T>G (p.Phe799Val) | |
18 | g.23539457A>G | CA401792590 | NPC1 | c.2809T>C (p.Phe937Leu) c.1887T>C n.442T>C c.2860T>C (p.Phe954Leu) c.2395T>C (p.Phe799Leu) | |
18 | g.23539457A>T | CA401792591 | NPC1 | c.2809T>A (p.Phe937Ile) c.1887T>A n.442T>A c.2860T>A (p.Phe954Ile) c.2395T>A (p.Phe799Ile) | |
18 | g.23539458G>A | CA503322582 | NPC1 | c.2808C>T (p.Gly936=) c.1886C>T n.441C>T c.2859C>T (p.Gly953=) c.2394C>T (p.Gly798=) | ClinVar dbSNP |
18 | g.23539458G>C | CA503322583 | NPC1 | c.2808C>G (p.Gly936=) c.1886C>G n.441C>G c.2859C>G (p.Gly953=) c.2394C>G (p.Gly798=) | |
18 | g.23539458G= | CA2290165759 | NPC1 | c.2808C= (p.Gly936=) c.1886C= n.441C= c.2859C= (p.Gly953=) c.2394C= (p.Gly798=) | |
18 | g.23539458G>T | CA503322584 | NPC1 | c.2808C>A (p.Gly936=) c.1886C>A n.441C>A c.2859C>A (p.Gly953=) c.2394C>A (p.Gly798=) | |
18 | g.23539459C>A | CA401792592 | NPC1 | c.2807G>T (p.Gly936Val) c.1885G>T n.440G>T c.2858G>T (p.Gly953Val) c.2393G>T (p.Gly798Val) | |
18 | g.23539459C= | CA2290165760 | NPC1 | c.2807G= (p.Gly936=) c.1885G= n.440G= c.2858G= (p.Gly953=) c.2393G= (p.Gly798=) | |
18 | g.23539459C>G | CA401792593 | NPC1 | c.2807G>C (p.Gly936Ala) c.1885G>C n.440G>C c.2858G>C (p.Gly953Ala) c.2393G>C (p.Gly798Ala) | |
18 | g.23539459C>T | CA401792594 | NPC1 | c.2807G>A (p.Gly936Asp) c.1885G>A n.440G>A c.2858G>A (p.Gly953Asp) c.2393G>A (p.Gly798Asp) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539460del | CA2641273132 | NPC1 | c.2807del (p.Gly936AlafsTer15) c.1885del n.440del c.2858del (p.Gly953AlafsTer15) c.2393del (p.Gly798AlafsTer15) | gnomAD v4 |
18 | g.23539460C>A | CA401792595 | NPC1 | c.2806G>T (p.Gly936Cys) c.1884G>T n.439G>T c.2857G>T (p.Gly953Cys) c.2392G>T (p.Gly798Cys) | |
18 | g.23539460C>G | CA401792596 | NPC1 | c.2806G>C (p.Gly936Arg) c.1884G>C n.439G>C c.2857G>C (p.Gly953Arg) c.2392G>C (p.Gly798Arg) | |
18 | g.23539460C>T | CA401792597 | NPC1 | c.2806G>A (p.Gly936Ser) c.1884G>A n.439G>A c.2857G>A (p.Gly953Ser) c.2392G>A (p.Gly798Ser) | |
18 | g.23539461T>A | CA503322585 | NPC1 | c.2805A>T (p.Ile935=) c.1883A>T n.438A>T c.2856A>T (p.Ile952=) c.2391A>T (p.Ile797=) | |
18 | g.23539461T>C | CA401792598 | NPC1 | c.2805A>G (p.Ile935Met) c.1883A>G n.438A>G c.2856A>G (p.Ile952Met) c.2391A>G (p.Ile797Met) | |
18 | g.23539461T>G | CA503322586 | NPC1 | c.2805A>C (p.Ile935=) c.1883A>C n.438A>C c.2856A>C (p.Ile952=) c.2391A>C (p.Ile797=) | |
18 | g.23539462A>C | CA401792599 | NPC1 | c.2804T>G (p.Ile935Arg) c.1882T>G n.437T>G c.2855T>G (p.Ile952Arg) c.2390T>G (p.Ile797Arg) | |
18 | g.23539462A>G | CA401792601 | NPC1 | c.2804T>C (p.Ile935Thr) c.1882T>C n.437T>C c.2855T>C (p.Ile952Thr) c.2390T>C (p.Ile797Thr) | |
18 | g.23539462A>T | CA401792600 | NPC1 | c.2804T>A (p.Ile935Lys) c.1882T>A n.437T>A c.2855T>A (p.Ile952Lys) c.2390T>A (p.Ile797Lys) | |
18 | g.23539463T>A | CA401792602 | NPC1 | c.2803A>T (p.Ile935Leu) c.1881A>T n.436A>T c.2854A>T (p.Ile952Leu) c.2389A>T (p.Ile797Leu) | |
18 | g.23539463T>C | CA401792603 | NPC1 | c.2803A>G (p.Ile935Val) c.1881A>G n.436A>G c.2854A>G (p.Ile952Val) c.2389A>G (p.Ile797Val) | |
18 | g.23539463T>G | CA401792604 | NPC1 | c.2803A>C (p.Ile935Leu) c.1881A>C n.436A>C c.2854A>C (p.Ile952Leu) c.2389A>C (p.Ile797Leu) | |
18 | g.23539464T>A | CA503322587 | NPC1 | c.2802A>T (p.Arg934=) c.1880A>T n.435A>T c.2853A>T (p.Arg951=) c.2388A>T (p.Arg796=) | |
18 | g.23539464T>C | CA503322588 | NPC1 | c.2802A>G (p.Arg934=) c.1880A>G n.435A>G c.2853A>G (p.Arg951=) c.2388A>G (p.Arg796=) | COSMIC COSMIC |
18 | g.23539464T>G | CA8912952 | NPC1 | c.2802A>C (p.Arg934=) c.1880A>C n.435A>C c.2853A>C (p.Arg951=) c.2388A>C (p.Arg796=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539464T= | CA2290165761 | NPC1 | c.2802A= (p.Arg934=) c.1880A= n.435A= c.2853A= (p.Arg951=) c.2388A= (p.Arg796=) | |
18 | g.23539465C>A | CA10606394 | NPC1 | c.2801G>T (p.Arg934Leu) c.1879G>T n.434G>T c.2852G>T (p.Arg951Leu) c.2387G>T (p.Arg796Leu) | ClinVar dbSNP |
18 | g.23539465C= | CA2290165762 | NPC1 | c.2801G= (p.Arg934=) c.1879G= n.434G= c.2852G= (p.Arg951=) c.2387G= (p.Arg796=) | |
18 | g.23539465C>G | CA401792605 | NPC1 | c.2801G>C (p.Arg934Pro) c.1879G>C n.434G>C c.2852G>C (p.Arg951Pro) c.2387G>C (p.Arg796Pro) | |
18 | g.23539465C>T | CA274396 | NPC1 | c.2801G>A (p.Arg934Gln) c.1879G>A n.434G>A c.2852G>A (p.Arg951Gln) c.2387G>A (p.Arg796Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539466G>A | CA8912953 | NPC1 | c.2800C>T (p.Arg934Ter) c.1878C>T n.433C>T c.2851C>T (p.Arg951Ter) c.2386C>T (p.Arg796Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539466G>C | CA401792606 | NPC1 | c.2800C>G (p.Arg934Gly) c.1878C>G n.433C>G c.2851C>G (p.Arg951Gly) c.2386C>G (p.Arg796Gly) | |
18 | g.23539466G= | CA2290165763 | NPC1 | c.2800C= (p.Arg934=) c.1878C= n.433C= c.2851C= (p.Arg951=) c.2386C= (p.Arg796=) | |
18 | g.23539466G>T | CA503322589 | NPC1 | c.2800C>A (p.Arg934=) c.1878C>A n.433C>A c.2851C>A (p.Arg951=) c.2386C>A (p.Arg796=) | |
18 | g.23539467G>A | CA503322591 | NPC1 | c.2799C>T (p.Thr933=) c.1877C>T n.432C>T c.2850C>T (p.Thr950=) c.2385C>T (p.Thr795=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539467G>C | CA503322590 | NPC1 | c.2799C>G (p.Thr933=) c.1877C>G n.432C>G c.2850C>G (p.Thr950=) c.2385C>G (p.Thr795=) | ClinVar gnomAD v4 |
18 | g.23539467G= | CA2290165764 | NPC1 | c.2799C= (p.Thr933=) c.1877C= n.432C= c.2850C= (p.Thr950=) c.2385C= (p.Thr795=) | |
18 | g.23539467G>T | CA8912954 | NPC1 | c.2799C>A (p.Thr933=) c.1877C>A n.432C>A c.2850C>A (p.Thr950=) c.2385C>A (p.Thr795=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539468G>A | CA297081212 | NPC1 | c.2798C>T (p.Thr933Ile) c.1876C>T n.431C>T c.2849C>T (p.Thr950Ile) c.2384C>T (p.Thr795Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539468G>C | CA401792608 | NPC1 | c.2798C>G (p.Thr933Ser) c.1876C>G n.431C>G c.2849C>G (p.Thr950Ser) c.2384C>G (p.Thr795Ser) | |
18 | g.23539468G= | CA2290165765 | NPC1 | c.2798C= (p.Thr933=) c.1876C= n.431C= c.2849C= (p.Thr950=) c.2384C= (p.Thr795=) | |
18 | g.23539468G>T | CA401792607 | NPC1 | c.2798C>A (p.Thr933Asn) c.1876C>A n.431C>A c.2849C>A (p.Thr950Asn) c.2384C>A (p.Thr795Asn) | gnomAD v4 |
18 | g.23539469T>A | CA401792609 | NPC1 | c.2797A>T (p.Thr933Ser) c.1875A>T n.430A>T c.2848A>T (p.Thr950Ser) c.2383A>T (p.Thr795Ser) | |
18 | g.23539469T>C | CA401792610 | NPC1 | c.2797A>G (p.Thr933Ala) c.1875A>G n.430A>G c.2848A>G (p.Thr950Ala) c.2383A>G (p.Thr795Ala) | |
18 | g.23539469T>G | CA401792611 | NPC1 | c.2797A>C (p.Thr933Pro) c.1875A>C n.430A>C c.2848A>C (p.Thr950Pro) c.2383A>C (p.Thr795Pro) | |
18 | g.23539470A>C | CA401792612 | NPC1 | c.2796T>G (p.Tyr932Ter) c.1874T>G n.429T>G c.2847T>G (p.Tyr949Ter) c.2382T>G (p.Tyr794Ter) | |
18 | g.23539470A>G | CA503322592 | NPC1 | c.2796T>C (p.Tyr932=) c.1874T>C n.429T>C c.2847T>C (p.Tyr949=) c.2382T>C (p.Tyr794=) | |
18 | g.23539470A>T | CA401792613 | NPC1 | c.2796T>A (p.Tyr932Ter) c.1874T>A n.429T>A c.2847T>A (p.Tyr949Ter) c.2382T>A (p.Tyr794Ter) | |
18 | g.23539470_23539471insTAGTTGTCCAG | CA2641273133 | NPC1 | c.2796-1_2796insCTGGACAACTA (n.2796-1_2796insCTGGACAACTA) c.1874-1_1874insCTGGACAACTA n.428_429insCTGGACAACTA c.2847-1_2847insCTGGACAACTA (n.2847-1_2847insCTGGACAACTA) c.2382-1_2382insCTGGACAACTA (n.2382-1_2382insCTGGACAACTA) | gnomAD v4 |
18 | g.23539471C>A | CA401792614 | NPC1 | c.2796-1G>T (n.2796-1G>T) c.1874-1G>T n.428G>T c.2847-1G>T (n.2847-1G>T) c.2382-1G>T (n.2382-1G>T) | |
18 | g.23539471C>G | CA401792615 | NPC1 | c.2796-1G>C (n.2796-1G>C) c.1874-1G>C n.428G>C c.2847-1G>C (n.2847-1G>C) c.2382-1G>C (n.2382-1G>C) | gnomAD v4 |
18 | g.23539471C>T | CA401792616 | NPC1 | c.2796-1G>A (n.2796-1G>A) c.1874-1G>A n.428G>A c.2847-1G>A (n.2847-1G>A) c.2382-1G>A (n.2382-1G>A) | |
18 | g.23539472T>A | CA401792617 | NPC1 | c.2796-2A>T (n.2796-2A>T) c.1874-2A>T n.427A>T c.2847-2A>T (n.2847-2A>T) c.2382-2A>T (n.2382-2A>T) | ClinVar gnomAD v4 |
18 | g.23539472T>C | CA401792618 | NPC1 | c.2796-2A>G (n.2796-2A>G) c.1874-2A>G n.427A>G c.2847-2A>G (n.2847-2A>G) c.2382-2A>G (n.2382-2A>G) | |
18 | g.23539472T>G | CA401792619 | NPC1 | c.2796-2A>C (n.2796-2A>C) c.1874-2A>C n.427A>C c.2847-2A>C (n.2847-2A>C) c.2382-2A>C (n.2382-2A>C) | |
18 | g.23539472_23539473insGCGCCGCGTTAAATATCTGCTGCACC | CA2641273134 | NPC1 | c.2796-3_2796-2insGGTGCAGCAGATATTTAACGCGGCGC (n.2796-3_2796-2insGGTGCAGCAGATATTTAACGCGGCGC) c.1874-3_1874-2insGGTGCAGCAGATATTTAACGCGGCGC n.426_427insGGTGCAGCAGATATTTAACGCGGCGC c.2847-3_2847-2insGGTGCAGCAGATATTTAACGCGGCGC (n.2847-3_2847-2insGGTGCAGCAGATATTTAACGCGGCGC) c.2382-3_2382-2insGGTGCAGCAGATATTTAACGCGGCGC (n.2382-3_2382-2insGGTGCAGCAGATATTTAACGCGGCGC) | gnomAD v4 |
18 | g.23539474G>A | CA8912955 | NPC1 | c.2796-4C>T (n.2796-4C>T) c.1874-4C>T n.425C>T c.2847-4C>T (n.2847-4C>T) c.2382-4C>T (n.2382-4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539474G>C | CA628677888 | NPC1 | c.2796-4C>G (n.2796-4C>G) c.1874-4C>G n.425C>G c.2847-4C>G (n.2847-4C>G) c.2382-4C>G (n.2382-4C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539474G= | CA2290165766 | NPC1 | c.2796-4C= (n.2796-4C=) c.1874-4C= n.425C= c.2847-4C= (n.2847-4C=) c.2382-4C= (n.2382-4C=) | |
18 | g.23539474G>T | CA2641273135 | NPC1 | c.2796-4C>A (n.2796-4C>A) c.1874-4C>A n.425C>A c.2847-4C>A (n.2847-4C>A) c.2382-4C>A (n.2382-4C>A) | gnomAD v4 |
18 | g.23539475A>G | CA2580095520 | NPC1 | c.2796-5T>C (n.2796-5T>C) c.1874-5T>C n.424T>C c.2847-5T>C (n.2847-5T>C) c.2382-5T>C (n.2382-5T>C) | ClinVar gnomAD v4 |
18 | g.23539476G>T | CA2641273136 | NPC1 | c.2796-6C>A (n.2796-6C>A) c.1874-6C>A n.423C>A c.2847-6C>A (n.2847-6C>A) c.2382-6C>A (n.2382-6C>A) | gnomAD v4 |
18 | g.23539477A>C | CA2573155234 | NPC1 | c.2796-7T>G (n.2796-7T>G) c.1874-7T>G n.422T>G c.2847-7T>G (n.2847-7T>G) c.2382-7T>G (n.2382-7T>G) | ClinVar dbSNP |
18 | g.23539477_23539478insTGTC | CA2641273137 | NPC1 | c.2796-8_2796-7insGACA (n.2796-8_2796-7insGACA) c.1874-8_1874-7insGACA n.421_422insGACA c.2847-8_2847-7insGACA (n.2847-8_2847-7insGACA) c.2382-8_2382-7insGACA (n.2382-8_2382-7insGACA) | gnomAD v4 |
18 | g.23539478G>A | CA915940934 | NPC1 | c.2796-8C>T (n.2796-8C>T) c.1874-8C>T n.421C>T c.2847-8C>T (n.2847-8C>T) c.2382-8C>T (n.2382-8C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23539478G= | CA2290165767 | NPC1 | c.2796-8C= (n.2796-8C=) c.1874-8C= n.421C= c.2847-8C= (n.2847-8C=) c.2382-8C= (n.2382-8C=) | |
18 | g.23539478G>T | CA2641273138 | NPC1 | c.2796-8C>A (n.2796-8C>A) c.1874-8C>A n.421C>A c.2847-8C>A (n.2847-8C>A) c.2382-8C>A (n.2382-8C>A) | gnomAD v4 |
18 | g.23539479G>A | CA628677890 | NPC1 | c.2796-9C>T (n.2796-9C>T) c.1874-9C>T n.420C>T c.2847-9C>T (n.2847-9C>T) c.2382-9C>T (n.2382-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539479G= | CA2290165768 | NPC1 | c.2796-9C= (n.2796-9C=) c.1874-9C= n.420C= c.2847-9C= (n.2847-9C=) c.2382-9C= (n.2382-9C=) | |
18 | g.23539479G>T | CA2641273139 | NPC1 | c.2796-9C>A (n.2796-9C>A) c.1874-9C>A n.420C>A c.2847-9C>A (n.2847-9C>A) c.2382-9C>A (n.2382-9C>A) | gnomAD v4 |
18 | g.23539484_23539487dup | CA777719612 | NPC1 | c.2796-12_2796-9dup (n.2796-12_2796-9dup) c.1874-12_1874-9dup n.417_420dup c.2847-12_2847-9dup (n.2847-12_2847-9dup) c.2382-12_2382-9dup (n.2382-12_2382-9dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23539484_23539487del | CA2695227441 | NPC1 | c.2796-12_2796-9del (n.2796-12_2796-9del) c.1874-12_1874-9del n.417_420del c.2847-12_2847-9del (n.2847-12_2847-9del) c.2382-12_2382-9del (n.2382-12_2382-9del) | |
18 | g.23539481C>T | CA2641273140 | NPC1 | c.2796-11G>A (n.2796-11G>A) c.1874-11G>A n.418G>A c.2847-11G>A (n.2847-11G>A) c.2382-11G>A (n.2382-11G>A) | gnomAD v4 |
18 | g.23539483G>T | CA2641273141 | NPC1 | c.2796-13C>A (n.2796-13C>A) c.1874-13C>A n.416C>A c.2847-13C>A (n.2847-13C>A) c.2382-13C>A (n.2382-13C>A) | gnomAD v4 |
18 | g.23539484A>C | CA2641273142 | NPC1 | c.2796-14T>G (n.2796-14T>G) c.1874-14T>G n.415T>G c.2847-14T>G (n.2847-14T>G) c.2382-14T>G (n.2382-14T>G) | gnomAD v4 |
18 | g.23539485C>G | CA2576470535 | NPC1 | c.2796-15G>C (n.2796-15G>C) c.1874-15G>C n.414G>C c.2847-15G>C (n.2847-15G>C) c.2382-15G>C (n.2382-15G>C) | ClinVar gnomAD v4 |
18 | g.23539485C>T | CA2580095521 | NPC1 | c.2796-15G>A (n.2796-15G>A) c.1874-15G>A n.414G>A c.2847-15G>A (n.2847-15G>A) c.2382-15G>A (n.2382-15G>A) | ClinVar gnomAD v4 |
18 | g.23539486A= | CA2290165769 | NPC1 | c.2796-16T= (n.2796-16T=) c.1874-16T= n.413T= c.2847-16T= (n.2847-16T=) c.2382-16T= (n.2382-16T=) | |
18 | g.23539486A>G | CA628677891 | NPC1 | c.2796-16T>C (n.2796-16T>C) c.1874-16T>C n.413T>C c.2847-16T>C (n.2847-16T>C) c.2382-16T>C (n.2382-16T>C) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539486_23539487del | CA2576470536 | NPC1 | c.2796-17_2796-16del (n.2796-17_2796-16del) c.1874-17_1874-16del n.412_413del c.2847-17_2847-16del (n.2847-17_2847-16del) c.2382-17_2382-16del (n.2382-17_2382-16del) | gnomAD v4 |
18 | g.23539487G>A | CA297081215 | NPC1 | c.2796-17C>T (n.2796-17C>T) c.1874-17C>T n.412C>T c.2847-17C>T (n.2847-17C>T) c.2382-17C>T (n.2382-17C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539487G>C | CA8912956 | NPC1 | c.2796-17C>G (n.2796-17C>G) c.1874-17C>G n.412C>G c.2847-17C>G (n.2847-17C>G) c.2382-17C>G (n.2382-17C>G) | ClinVar dbSNP ExAC gnomAD v2 |
18 | g.23539487G= | CA2290165770 | NPC1 | c.2796-17C= (n.2796-17C=) c.1874-17C= n.412C= c.2847-17C= (n.2847-17C=) c.2382-17C= (n.2382-17C=) | |
18 | g.23539487G>T | CA2641273144 | NPC1 | c.2796-17C>A (n.2796-17C>A) c.1874-17C>A n.412C>A c.2847-17C>A (n.2847-17C>A) c.2382-17C>A (n.2382-17C>A) | gnomAD v4 |
18 | g.23539488G>A | CA2641273145 | NPC1 | c.2796-18C>T (n.2796-18C>T) c.1874-18C>T n.411C>T c.2847-18C>T (n.2847-18C>T) c.2382-18C>T (n.2382-18C>T) | gnomAD v4 |
18 | g.23539488G>C | CA2641273146 | NPC1 | c.2796-18C>G (n.2796-18C>G) c.1874-18C>G n.411C>G c.2847-18C>G (n.2847-18C>G) c.2382-18C>G (n.2382-18C>G) | ClinVar gnomAD v4 |
18 | g.23539488G>T | CA2641273147 | NPC1 | c.2796-18C>A (n.2796-18C>A) c.1874-18C>A n.411C>A c.2847-18C>A (n.2847-18C>A) c.2382-18C>A (n.2382-18C>A) | gnomAD v4 |
18 | g.23539489G>T | CA2573155235 | NPC1 | c.2796-19C>A (n.2796-19C>A) c.1874-19C>A n.410C>A c.2847-19C>A (n.2847-19C>A) c.2382-19C>A (n.2382-19C>A) | ClinVar dbSNP gnomAD v4 |
18 | g.23539490T>C | CA8912957 | NPC1 | c.2796-20A>G (n.2796-20A>G) c.1874-20A>G n.409A>G c.2847-20A>G (n.2847-20A>G) c.2382-20A>G (n.2382-20A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539490T= | CA2290165771 | NPC1 | c.2796-20A= (n.2796-20A=) c.1874-20A= n.409A= c.2847-20A= (n.2847-20A=) c.2382-20A= (n.2382-20A=) | |
18 | g.23539493C>A | CA777719624 | NPC1 | c.2796-23G>T (n.2796-23G>T) c.1874-23G>T n.406G>T c.2847-23G>T (n.2847-23G>T) c.2382-23G>T (n.2382-23G>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23539493C= | CA2290165772 | NPC1 | c.2796-23G= (n.2796-23G=) c.1874-23G= n.406G= c.2847-23G= (n.2847-23G=) c.2382-23G= (n.2382-23G=) | |
18 | g.23539493C>G | CA628677893 | NPC1 | c.2796-23G>C (n.2796-23G>C) c.1874-23G>C n.406G>C c.2847-23G>C (n.2847-23G>C) c.2382-23G>C (n.2382-23G>C) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539493C>T | CA8912958 | NPC1 | c.2796-23G>A (n.2796-23G>A) c.1874-23G>A n.406G>A c.2847-23G>A (n.2847-23G>A) c.2382-23G>A (n.2382-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539495G>C | CA8912959 | NPC1 | c.2796-25C>G (n.2796-25C>G) c.1874-25C>G n.404C>G c.2847-25C>G (n.2847-25C>G) c.2382-25C>G (n.2382-25C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539495G= | CA2290165773 | NPC1 | c.2796-25C= (n.2796-25C=) c.1874-25C= n.404C= c.2847-25C= (n.2847-25C=) c.2382-25C= (n.2382-25C=) | |
18 | g.23539496A= | CA2290165774 | NPC1 | c.2796-26T= (n.2796-26T=) c.1874-26T= n.403T= c.2847-26T= (n.2847-26T=) c.2382-26T= (n.2382-26T=) | |
18 | g.23539496A>C | CA628677894 | NPC1 | c.2796-26T>G (n.2796-26T>G) c.1874-26T>G n.403T>G c.2847-26T>G (n.2847-26T>G) c.2382-26T>G (n.2382-26T>G) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539497C>T | CA2590759951 | NPC1 | c.2796-27G>A (n.2796-27G>A) c.1874-27G>A n.402G>A c.2847-27G>A (n.2847-27G>A) c.2382-27G>A (n.2382-27G>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23539498C= | CA2290165775 | NPC1 | c.2796-28G= (n.2796-28G=) c.1874-28G= n.401G= c.2847-28G= (n.2847-28G=) c.2382-28G= (n.2382-28G=) | |
18 | g.23539498C>G | CA628677896 | NPC1 | c.2796-28G>C (n.2796-28G>C) c.1874-28G>C n.401G>C c.2847-28G>C (n.2847-28G>C) c.2382-28G>C (n.2382-28G>C) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539498C>T | CA628677897 | NPC1 | c.2796-28G>A (n.2796-28G>A) c.1874-28G>A n.401G>A c.2847-28G>A (n.2847-28G>A) c.2382-28G>A (n.2382-28G>A) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539499T>G | CA2641273148 | NPC1 | c.2796-29A>C (n.2796-29A>C) c.1874-29A>C n.400A>C c.2847-29A>C (n.2847-29A>C) c.2382-29A>C (n.2382-29A>C) | gnomAD v4 |
18 | g.23539500G>A | CA2641273149 | NPC1 | c.2796-30C>T (n.2796-30C>T) c.1874-30C>T n.399C>T c.2847-30C>T (n.2847-30C>T) c.2382-30C>T (n.2382-30C>T) | gnomAD v4 |
18 | g.23539500G>T | CA2641273150 | NPC1 | c.2796-30C>A (n.2796-30C>A) c.1874-30C>A n.399C>A c.2847-30C>A (n.2847-30C>A) c.2382-30C>A (n.2382-30C>A) | gnomAD v4 |
18 | g.23539501C>A | CA2641273151 | NPC1 | c.2796-31G>T (n.2796-31G>T) c.1874-31G>T n.398G>T c.2847-31G>T (n.2847-31G>T) c.2382-31G>T (n.2382-31G>T) | gnomAD v4 |
18 | g.23539501C= | CA2290165776 | NPC1 | c.2796-31G= (n.2796-31G=) c.1874-31G= n.398G= c.2847-31G= (n.2847-31G=) c.2382-31G= (n.2382-31G=) | |
18 | g.23539501C>T | CA2290165777 | NPC1 | c.2796-31G>A (n.2796-31G>A) c.1874-31G>A n.398G>A c.2847-31G>A (n.2847-31G>A) c.2382-31G>A (n.2382-31G>A) | dbSNP gnomAD v4 |
18 | g.23539503C= | CA2290165778 | NPC1 | c.2796-33G= (n.2796-33G=) c.1874-33G= n.396G= c.2847-33G= (n.2847-33G=) c.2382-33G= (n.2382-33G=) | |
18 | g.23539503C>T | CA8912960 | NPC1 | c.2796-33G>A (n.2796-33G>A) c.1874-33G>A n.396G>A c.2847-33G>A (n.2847-33G>A) c.2382-33G>A (n.2382-33G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539503_23539504insT | CA2576470539 | NPC1 | c.2796-34_2796-33insA (n.2796-34_2796-33insA) c.1874-34_1874-33insA n.395_396insA c.2847-34_2847-33insA (n.2847-34_2847-33insA) c.2382-34_2382-33insA (n.2382-34_2382-33insA) | |
18 | g.23539506C>T | CA2641273153 | NPC1 | c.2796-36G>A (n.2796-36G>A) c.1874-36G>A n.393G>A c.2847-36G>A (n.2847-36G>A) c.2382-36G>A (n.2382-36G>A) | gnomAD v4 |
18 | g.23539507A= | CA2290165779 | NPC1 | c.2796-37T= (n.2796-37T=) c.1874-37T= n.392T= c.2847-37T= (n.2847-37T=) c.2382-37T= (n.2382-37T=) | |
18 | g.23539507A>G | CA297081222 | NPC1 | c.2796-37T>C (n.2796-37T>C) c.1874-37T>C n.392T>C c.2847-37T>C (n.2847-37T>C) c.2382-37T>C (n.2382-37T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539507_23539508delinsAG | CA2290165780 | NPC1 | c.2796-38_2796-37delinsCT (n.2796-38_2796-37delinsCT) c.1874-38_1874-37delinsCT n.391_392delinsCT c.2847-38_2847-37delinsCT (n.2847-38_2847-37delinsCT) c.2382-38_2382-37delinsCT (n.2382-38_2382-37delinsCT) | |
18 | g.23539508G>A | CA2290165781 | NPC1 | c.2796-38C>T (n.2796-38C>T) c.1874-38C>T n.391C>T c.2847-38C>T (n.2847-38C>T) c.2382-38C>T (n.2382-38C>T) | dbSNP gnomAD v4 |
18 | g.23539508G>C | CA2811805023 | NPC1 | c.2796-38C>G (n.2796-38C>G) c.1874-38C>G n.391C>G c.2847-38C>G (n.2847-38C>G) c.2382-38C>G (n.2382-38C>G) | |
18 | g.23539508G= | CA2290165782 | NPC1 | c.2796-38C= (n.2796-38C=) c.1874-38C= n.391C= c.2847-38C= (n.2847-38C=) c.2382-38C= (n.2382-38C=) | |
18 | g.23539508G>T | CA2811805024 | NPC1 | c.2796-38C>A (n.2796-38C>A) c.1874-38C>A n.391C>A c.2847-38C>A (n.2847-38C>A) c.2382-38C>A (n.2382-38C>A) | |
18 | g.23539510del | CA628677899 | NPC1 | c.2796-38del (n.2796-38del) c.1874-38del n.391del c.2847-38del (n.2847-38del) c.2382-38del (n.2382-38del) | dbSNP gnomAD v2 |
18 | g.23539509G>A | CA2576470540 | NPC1 | c.2796-39C>T (n.2796-39C>T) c.1874-39C>T n.390C>T c.2847-39C>T (n.2847-39C>T) c.2382-39C>T (n.2382-39C>T) | |
18 | g.23539512G>A | CA297081225 | NPC1 | c.2796-42C>T (n.2796-42C>T) c.1874-42C>T n.387C>T c.2847-42C>T (n.2847-42C>T) c.2382-42C>T (n.2382-42C>T) | dbSNP gnomAD v4 |
18 | g.23539512G= | CA2290165783 | NPC1 | c.2796-42C= (n.2796-42C=) c.1874-42C= n.387C= c.2847-42C= (n.2847-42C=) c.2382-42C= (n.2382-42C=) | |
18 | g.23539512G>T | CA2641273154 | NPC1 | c.2796-42C>A (n.2796-42C>A) c.1874-42C>A n.387C>A c.2847-42C>A (n.2847-42C>A) c.2382-42C>A (n.2382-42C>A) | gnomAD v4 |
18 | g.23539513del | CA2576470541 | NPC1 | c.2796-42del (n.2796-42del) c.1874-42del n.387del c.2847-42del (n.2847-42del) c.2382-42del (n.2382-42del) | gnomAD v4 |
18 | g.23539513G>A | CA2641273155 | NPC1 | c.2796-43C>T (n.2796-43C>T) c.1874-43C>T n.386C>T c.2847-43C>T (n.2847-43C>T) c.2382-43C>T (n.2382-43C>T) | gnomAD v4 |
18 | g.23539515A>T | CA2641273156 | NPC1 | c.2796-45T>A (n.2796-45T>A) c.1874-45T>A n.384T>A c.2847-45T>A (n.2847-45T>A) c.2382-45T>A (n.2382-45T>A) | gnomAD v4 |
18 | g.23539516G>A | CA8912961 | NPC1 | c.2796-46C>T (n.2796-46C>T) c.1874-46C>T n.383C>T c.2847-46C>T (n.2847-46C>T) c.2382-46C>T (n.2382-46C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539516G>C | CA2576470542 | NPC1 | c.2796-46C>G (n.2796-46C>G) c.1874-46C>G n.383C>G c.2847-46C>G (n.2847-46C>G) c.2382-46C>G (n.2382-46C>G) | |
18 | g.23539516G= | CA2290165784 | NPC1 | c.2796-46C= (n.2796-46C=) c.1874-46C= n.383C= c.2847-46C= (n.2847-46C=) c.2382-46C= (n.2382-46C=) | |
18 | g.23539516G>T | CA2641273157 | NPC1 | c.2796-46C>A (n.2796-46C>A) c.1874-46C>A n.383C>A c.2847-46C>A (n.2847-46C>A) c.2382-46C>A (n.2382-46C>A) | gnomAD v4 |
18 | g.23539518C>A | CA8912962 | NPC1 | c.2796-48G>T (n.2796-48G>T) c.1874-48G>T n.381G>T c.2847-48G>T (n.2847-48G>T) c.2382-48G>T (n.2382-48G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539518C= | CA2290165786 | NPC1 | c.2796-48G= (n.2796-48G=) c.1874-48G= n.381G= c.2847-48G= (n.2847-48G=) c.2382-48G= (n.2382-48G=) | |
18 | g.23539518_23539519delinsCT | CA2290165785 | NPC1 | c.2796-49_2796-48delinsAG (n.2796-49_2796-48delinsAG) c.1874-49_1874-48delinsAG n.380_381delinsAG c.2847-49_2847-48delinsAG (n.2847-49_2847-48delinsAG) c.2382-49_2382-48delinsAG (n.2382-49_2382-48delinsAG) | |
18 | g.23539521del | CA8912963 | NPC1 | c.2796-49del (n.2796-49del) c.1874-49del n.380del c.2847-49del (n.2847-49del) c.2382-49del (n.2382-49del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539520T>C | CA297081234 | NPC1 | c.2796-50A>G (n.2796-50A>G) c.1874-50A>G n.379A>G c.2847-50A>G (n.2847-50A>G) c.2382-50A>G (n.2382-50A>G) | dbSNP |
18 | g.23539520T= | CA2290165787 | NPC1 | c.2796-50A= (n.2796-50A=) c.1874-50A= n.379A= c.2847-50A= (n.2847-50A=) c.2382-50A= (n.2382-50A=) | |
18 | g.23539521T>C | CA2641273158 | NPC1 | c.2796-51A>G (n.2796-51A>G) c.1874-51A>G n.378A>G c.2847-51A>G (n.2847-51A>G) c.2382-51A>G (n.2382-51A>G) | gnomAD v4 |
18 | g.23539522A>G | CA2641273159 | NPC1 | c.2796-52T>C (n.2796-52T>C) c.1874-52T>C n.377T>C c.2847-52T>C (n.2847-52T>C) c.2382-52T>C (n.2382-52T>C) | gnomAD v4 |
18 | g.23539523G>C | CA988381991 | NPC1 | c.2796-53C>G (n.2796-53C>G) c.1874-53C>G n.376C>G c.2847-53C>G (n.2847-53C>G) c.2382-53C>G (n.2382-53C>G) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23539523G= | CA2290165788 | NPC1 | c.2796-53C= (n.2796-53C=) c.1874-53C= n.376C= c.2847-53C= (n.2847-53C=) c.2382-53C= (n.2382-53C=) | |
18 | g.23539523G>T | CA2641273160 | NPC1 | c.2796-53C>A (n.2796-53C>A) c.1874-53C>A n.376C>A c.2847-53C>A (n.2847-53C>A) c.2382-53C>A (n.2382-53C>A) | gnomAD v4 |
18 | g.23539527C= | CA2290165790 | NPC1 | c.2796-57G= (n.2796-57G=) c.1874-57G= n.372G= c.2847-57G= (n.2847-57G=) c.2382-57G= (n.2382-57G=) | |
18 | g.23539527C>G | CA2290165789 | NPC1 | c.2796-57G>C (n.2796-57G>C) c.1874-57G>C n.372G>C c.2847-57G>C (n.2847-57G>C) c.2382-57G>C (n.2382-57G>C) | dbSNP gnomAD v4 |
18 | g.23539527C>T | CA2641273161 | NPC1 | c.2796-57G>A (n.2796-57G>A) c.1874-57G>A n.372G>A c.2847-57G>A (n.2847-57G>A) c.2382-57G>A (n.2382-57G>A) | gnomAD v4 |
18 | g.23539528A= | CA2290165791 | NPC1 | c.2796-58T= (n.2796-58T=) c.1874-58T= n.371T= c.2847-58T= (n.2847-58T=) c.2382-58T= (n.2382-58T=) | |
18 | g.23539528A>G | CA2290165792 | NPC1 | c.2796-58T>C (n.2796-58T>C) c.1874-58T>C n.371T>C c.2847-58T>C (n.2847-58T>C) c.2382-58T>C (n.2382-58T>C) | dbSNP gnomAD v4 |
18 | g.23539529G>A | CA2641273162 | NPC1 | c.2796-59C>T (n.2796-59C>T) c.1874-59C>T n.370C>T c.2847-59C>T (n.2847-59C>T) c.2382-59C>T (n.2382-59C>T) | gnomAD v4 |
18 | g.23539529G>T | CA2576470543 | NPC1 | c.2796-59C>A (n.2796-59C>A) c.1874-59C>A n.370C>A c.2847-59C>A (n.2847-59C>A) c.2382-59C>A (n.2382-59C>A) | gnomAD v4 |
18 | g.23539530T>C | CA2641273163 | NPC1 | c.2796-60A>G (n.2796-60A>G) c.1874-60A>G n.369A>G c.2847-60A>G (n.2847-60A>G) c.2382-60A>G (n.2382-60A>G) | gnomAD v4 |
18 | g.23539532C>A | CA2641273164 | NPC1 | c.2796-62G>T (n.2796-62G>T) c.1874-62G>T n.367G>T c.2847-62G>T (n.2847-62G>T) c.2382-62G>T (n.2382-62G>T) | gnomAD v4 |
18 | g.23539532_23539534delinsCTT | CA2290165793 | NPC1 | c.2796-64_2796-62delinsAAG (n.2796-64_2796-62delinsAAG) c.1874-64_1874-62delinsAAG n.365_367delinsAAG c.2847-64_2847-62delinsAAG (n.2847-64_2847-62delinsAAG) c.2382-64_2382-62delinsAAG (n.2382-64_2382-62delinsAAG) | |
18 | g.23539533T>C | CA2290165795 | NPC1 | c.2796-63A>G (n.2796-63A>G) c.1874-63A>G n.366A>G c.2847-63A>G (n.2847-63A>G) c.2382-63A>G (n.2382-63A>G) | dbSNP |
18 | g.23539533T= | CA2290165794 | NPC1 | c.2796-63A= (n.2796-63A=) c.1874-63A= n.366A= c.2847-63A= (n.2847-63A=) c.2382-63A= (n.2382-63A=) | |
18 | g.23539537del | CA2576470544 | NPC1 | c.2796-63del (n.2796-63del) c.1874-63del n.366del c.2847-63del (n.2847-63del) c.2382-63del (n.2382-63del) | gnomAD v4 |
18 | g.23539536_23539537del | CA988381992 | NPC1 | c.2796-64_2796-63del (n.2796-64_2796-63del) c.1874-64_1874-63del n.365_366del c.2847-64_2847-63del (n.2847-64_2847-63del) c.2382-64_2382-63del (n.2382-64_2382-63del) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23539536T>C | CA297081238 | NPC1 | c.2796-66A>G (n.2796-66A>G) c.1874-66A>G n.363A>G c.2847-66A>G (n.2847-66A>G) c.2382-66A>G (n.2382-66A>G) | dbSNP gnomAD v4 |
18 | g.23539536T= | CA2290165796 | NPC1 | c.2796-66A= (n.2796-66A=) c.1874-66A= n.363A= c.2847-66A= (n.2847-66A=) c.2382-66A= (n.2382-66A=) |