Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |