Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23539800G>A | CA777719742 | NPC1 | c.2795+11C>T (n.2795+11C>T) n.2720C>T c.1873+11C>T n.99C>T c.2846+11C>T (n.2846+11C>T) c.2381+11C>T (n.2381+11C>T) | dbSNP gnomAD v4 |
18 | g.23539800G= | CA2290165900 | NPC1 | c.2795+11C= (n.2795+11C=) n.2720C= c.1873+11C= n.99C= c.2846+11C= (n.2846+11C=) c.2381+11C= (n.2381+11C=) | |
18 | g.23539802G>A | CA628978763 | NPC1 | c.2795+9C>T (n.2795+9C>T) n.2718C>T c.1873+9C>T n.97C>T c.2846+9C>T (n.2846+9C>T) c.2381+9C>T (n.2381+9C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539802G>C | CA2290165901 | NPC1 | c.2795+9C>G (n.2795+9C>G) n.2718C>G c.1873+9C>G n.97C>G c.2846+9C>G (n.2846+9C>G) c.2381+9C>G (n.2381+9C>G) | dbSNP |
18 | g.23539802G= | CA2290165902 | NPC1 | c.2795+9C= (n.2795+9C=) n.2718C= c.1873+9C= n.97C= c.2846+9C= (n.2846+9C=) c.2381+9C= (n.2381+9C=) | |
18 | g.23539802G>T | CA8912973 | NPC1 | c.2795+9C>A (n.2795+9C>A) n.2718C>A c.1873+9C>A n.97C>A c.2846+9C>A (n.2846+9C>A) c.2381+9C>A (n.2381+9C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539803G= | CA2290165903 | NPC1 | c.2795+8C= (n.2795+8C=) n.2717C= c.1873+8C= n.96C= c.2846+8C= (n.2846+8C=) c.2381+8C= (n.2381+8C=) | |
18 | g.23539803G>T | CA628978764 | NPC1 | c.2795+8C>A (n.2795+8C>A) n.2717C>A c.1873+8C>A n.96C>A c.2846+8C>A (n.2846+8C>A) c.2381+8C>A (n.2381+8C>A) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539805A= | CA2290165904 | NPC1 | c.2795+6T= (n.2795+6T=) n.2715T= c.1873+6T= n.94T= c.2846+6T= (n.2846+6T=) c.2381+6T= (n.2381+6T=) | |
18 | g.23539805A>T | CA8912974 | NPC1 | c.2795+6T>A (n.2795+6T>A) n.2715T>A c.1873+6T>A n.94T>A c.2846+6T>A (n.2846+6T>A) c.2381+6T>A (n.2381+6T>A) | dbSNP ExAC |
18 | g.23539806C>G | CA2695227442 | NPC1 | c.2795+5G>C (n.2795+5G>C) n.2714G>C c.1873+5G>C n.93G>C c.2846+5G>C (n.2846+5G>C) c.2381+5G>C (n.2381+5G>C) | |
18 | g.23539806C>T | CA2641273383 | NPC1 | c.2795+5G>A (n.2795+5G>A) n.2714G>A c.1873+5G>A n.93G>A c.2846+5G>A (n.2846+5G>A) c.2381+5G>A (n.2381+5G>A) | gnomAD v4 |
18 | g.23539809A>C | CA401792620 | NPC1 | c.2795+2T>G (n.2795+2T>G) n.2711T>G c.1873+2T>G n.90T>G c.2846+2T>G (n.2846+2T>G) c.2381+2T>G (n.2381+2T>G) | |
18 | g.23539809A>G | CA401792621 | NPC1 | c.2795+2T>C (n.2795+2T>C) n.2711T>C c.1873+2T>C n.90T>C c.2846+2T>C (n.2846+2T>C) c.2381+2T>C (n.2381+2T>C) | |
18 | g.23539809A>T | CA401792622 | NPC1 | c.2795+2T>A (n.2795+2T>A) n.2711T>A c.1873+2T>A n.90T>A c.2846+2T>A (n.2846+2T>A) c.2381+2T>A (n.2381+2T>A) | |
18 | g.23539810C>A | CA401792623 | NPC1 | c.2795+1G>T (n.2795+1G>T) n.2710G>T c.1873+1G>T n.89G>T c.2846+1G>T (n.2846+1G>T) c.2381+1G>T (n.2381+1G>T) | |
18 | g.23539810C= | CA2290165905 | NPC1 | c.2795+1G= (n.2795+1G=) n.2710G= c.1873+1G= n.89G= c.2846+1G= (n.2846+1G=) c.2381+1G= (n.2381+1G=) | |
18 | g.23539810C>G | CA401792625 | NPC1 | c.2795+1G>C (n.2795+1G>C) n.2710G>C c.1873+1G>C n.89G>C c.2846+1G>C (n.2846+1G>C) c.2381+1G>C (n.2381+1G>C) | |
18 | g.23539810C>T | CA401792624 | NPC1 | c.2795+1G>A (n.2795+1G>A) n.2710G>A c.1873+1G>A n.89G>A c.2846+1G>A (n.2846+1G>A) c.2381+1G>A (n.2381+1G>A) | |
18 | g.23539811T>A | CA401792626 | NPC1 | c.2795A>T (p.Tyr932Phe) n.2709A>T c.1873A>T n.88A>T c.2846A>T (p.Tyr949Phe) c.2381A>T (p.Tyr794Phe) | |
18 | g.23539811T>C | CA401792627 | NPC1 | c.2795A>G (p.Tyr932Cys) n.2709A>G c.1873A>G n.88A>G c.2846A>G (p.Tyr949Cys) c.2381A>G (p.Tyr794Cys) | |
18 | g.23539811T>G | CA8912975 | NPC1 | c.2795A>C (p.Tyr932Ser) n.2709A>C c.1873A>C n.88A>C c.2846A>C (p.Tyr949Ser) c.2381A>C (p.Tyr794Ser) | dbSNP ExAC gnomAD v2 |
18 | g.23539811T= | CA2290165906 | NPC1 | c.2795A= (p.Tyr932=) n.2709A= c.1873A= n.88A= c.2846A= (p.Tyr949=) c.2381A= (p.Tyr794=) | |
18 | g.23539811dup | CA269833 | NPC1 | c.2795dup (p.Tyr932Ter) n.2709dup c.1873dup n.88dup c.2846dup (p.Tyr949Ter) c.2381dup (p.Tyr794Ter) | ClinVar dbSNP |
18 | g.23539812A>C | CA401792628 | NPC1 | c.2794T>G (p.Tyr932Asp) n.2708T>G c.1872T>G n.87T>G c.2845T>G (p.Tyr949Asp) c.2380T>G (p.Tyr794Asp) | |
18 | g.23539812A>G | CA401792629 | NPC1 | c.2794T>C (p.Tyr932His) n.2708T>C c.1872T>C n.87T>C c.2845T>C (p.Tyr949His) c.2380T>C (p.Tyr794His) | |
18 | g.23539812A>T | CA401792630 | NPC1 | c.2794T>A (p.Tyr932Asn) n.2708T>A c.1872T>A n.87T>A c.2845T>A (p.Tyr949Asn) c.2380T>A (p.Tyr794Asn) | |
18 | g.23539812dup | CA2641273385 | NPC1 | c.2794dup (p.Tyr932LeufsTer?) n.2708dup c.1872dup n.87dup c.2845dup (p.Tyr949LeufsTer?) c.2380dup (p.Tyr794LeufsTer?) | gnomAD v4 |
18 | g.23539813G>A | CA145959 | NPC1 | c.2793C>T (p.Asn931=) n.2707C>T c.1871C>T n.86C>T c.2844C>T (p.Asn948=) c.2379C>T (p.Asn793=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.[23539813G>A;23539879G>A] | CA1139767787 | NPC1 | c.[2727C>T;2793C>T] (p.[Cys909=;Asn931=]) n.[2641C>T;2707C>T] c.[1805C>T;1871C>T] n.[20C>T;86C>T] c.[2778C>T;2844C>T] (p.[Cys926=;Asn948=]) c.[2313C>T;2379C>T] (p.[Cys771=;Asn793=]) | |
18 | g.23539813G>C | CA297081368 | NPC1 | c.2793C>G (p.Asn931Lys) n.2707C>G c.1871C>G n.86C>G c.2844C>G (p.Asn948Lys) c.2379C>G (p.Asn793Lys) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23539813G= | CA2290165907 | NPC1 | c.2793C= (p.Asn931=) n.2707C= c.1871C= n.86C= c.2844C= (p.Asn948=) c.2379C= (p.Asn793=) | |
18 | g.23539813G>T | CA401792631 | NPC1 | c.2793C>A (p.Asn931Lys) n.2707C>A c.1871C>A n.86C>A c.2844C>A (p.Asn948Lys) c.2379C>A (p.Asn793Lys) | dbSNP |
18 | g.23539814T>A | CA401792633 | NPC1 | c.2792A>T (p.Asn931Ile) n.2706A>T c.1870A>T n.85A>T c.2843A>T (p.Asn948Ile) c.2378A>T (p.Asn793Ile) | |
18 | g.23539814T>C | CA8912976 | NPC1 | c.2792A>G (p.Asn931Ser) n.2706A>G c.1870A>G n.85A>G c.2843A>G (p.Asn948Ser) c.2378A>G (p.Asn793Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539814T>G | CA401792632 | NPC1 | c.2792A>C (p.Asn931Thr) n.2706A>C c.1870A>C n.85A>C c.2843A>C (p.Asn948Thr) c.2378A>C (p.Asn793Thr) | |
18 | g.23539814T= | CA2290165908 | NPC1 | c.2792A= (p.Asn931=) n.2706A= c.1870A= n.85A= c.2843A= (p.Asn948=) c.2378A= (p.Asn793=) | |
18 | g.23539815T>A | CA401792634 | NPC1 | c.2791A>T (p.Asn931Tyr) n.2705A>T c.1869A>T n.84A>T c.2842A>T (p.Asn948Tyr) c.2377A>T (p.Asn793Tyr) | |
18 | g.23539815T>C | CA401792635 | NPC1 | c.2791A>G (p.Asn931Asp) n.2705A>G c.1869A>G n.84A>G c.2842A>G (p.Asn948Asp) c.2377A>G (p.Asn793Asp) | |
18 | g.23539815T>G | CA401792636 | NPC1 | c.2791A>C (p.Asn931His) n.2705A>C c.1869A>C n.84A>C c.2842A>C (p.Asn948His) c.2377A>C (p.Asn793His) | |
18 | g.23539816G>A | CA8912977 | NPC1 | c.2790C>T (p.Asp930=) n.2704C>T c.1868C>T n.83C>T c.2841C>T (p.Asp947=) c.2376C>T (p.Asp792=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539816G>C | CA401792637 | NPC1 | c.2790C>G (p.Asp930Glu) n.2704C>G c.1868C>G n.83C>G c.2841C>G (p.Asp947Glu) c.2376C>G (p.Asp792Glu) | |
18 | g.23539816G= | CA2290165909 | NPC1 | c.2790C= (p.Asp930=) n.2704C= c.1868C= n.83C= c.2841C= (p.Asp947=) c.2376C= (p.Asp792=) | |
18 | g.23539816G>T | CA401792638 | NPC1 | c.2790C>A (p.Asp930Glu) n.2704C>A c.1868C>A n.83C>A c.2841C>A (p.Asp947Glu) c.2376C>A (p.Asp792Glu) | |
18 | g.23539817T>A | CA401792639 | NPC1 | c.2789A>T (p.Asp930Val) n.2703A>T c.1867A>T n.82A>T c.2840A>T (p.Asp947Val) c.2375A>T (p.Asp792Val) | dbSNP |
18 | g.23539817T>C | CA401792640 | NPC1 | c.2789A>G (p.Asp930Gly) n.2703A>G c.1867A>G n.82A>G c.2840A>G (p.Asp947Gly) c.2375A>G (p.Asp792Gly) | |
18 | g.23539817T>G | CA401792641 | NPC1 | c.2789A>C (p.Asp930Ala) n.2703A>C c.1867A>C n.82A>C c.2840A>C (p.Asp947Ala) c.2375A>C (p.Asp792Ala) | |
18 | g.23539817T= | CA2290165910 | NPC1 | c.2789A= (p.Asp930=) n.2703A= c.1867A= n.82A= c.2840A= (p.Asp947=) c.2375A= (p.Asp792=) | |
18 | g.23539818C>A | CA401792642 | NPC1 | c.2788G>T (p.Asp930Tyr) n.2702G>T c.1866G>T n.81G>T c.2839G>T (p.Asp947Tyr) c.2374G>T (p.Asp792Tyr) | |
18 | g.23539818C>G | CA401792643 | NPC1 | c.2788G>C (p.Asp930His) n.2702G>C c.1866G>C n.81G>C c.2839G>C (p.Asp947His) c.2374G>C (p.Asp792His) | |
18 | g.23539818C>T | CA401792644 | NPC1 | c.2788G>A (p.Asp930Asn) n.2702G>A c.1866G>A n.81G>A c.2839G>A (p.Asp947Asn) c.2374G>A (p.Asp792Asn) | |
18 | g.23539819C>A | CA503322594 | NPC1 | c.2787G>T (p.Leu929=) n.2701G>T c.1865G>T n.80G>T c.2838G>T (p.Leu946=) c.2373G>T (p.Leu791=) | |
18 | g.23539819C= | CA2290165911 | NPC1 | c.2787G= (p.Leu929=) n.2701G= c.1865G= n.80G= c.2838G= (p.Leu946=) c.2373G= (p.Leu791=) | |
18 | g.23539819C>G | CA503322595 | NPC1 | c.2787G>C (p.Leu929=) n.2701G>C c.1865G>C n.80G>C c.2838G>C (p.Leu946=) c.2373G>C (p.Leu791=) | |
18 | g.23539819C>T | CA503322596 | NPC1 | c.2787G>A (p.Leu929=) n.2701G>A c.1865G>A n.80G>A c.2838G>A (p.Leu946=) c.2373G>A (p.Leu791=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539820A>C | CA401792646 | NPC1 | c.2786T>G (p.Leu929Arg) n.2700T>G c.1864T>G n.79T>G c.2837T>G (p.Leu946Arg) c.2372T>G (p.Leu791Arg) | |
18 | g.23539820A>G | CA401792647 | NPC1 | c.2786T>C (p.Leu929Pro) n.2700T>C c.1864T>C n.79T>C c.2837T>C (p.Leu946Pro) c.2372T>C (p.Leu791Pro) | |
18 | g.23539820A>T | CA401792645 | NPC1 | c.2786T>A (p.Leu929Gln) n.2700T>A c.1864T>A n.79T>A c.2837T>A (p.Leu946Gln) c.2372T>A (p.Leu791Gln) | |
18 | g.23539821G>A | CA503322597 | NPC1 | c.2785C>T (p.Leu929=) n.2699C>T c.1863C>T n.78C>T c.2836C>T (p.Leu946=) c.2371C>T (p.Leu791=) | |
18 | g.23539821G>C | CA401792648 | NPC1 | c.2785C>G (p.Leu929Val) n.2699C>G c.1863C>G n.78C>G c.2836C>G (p.Leu946Val) c.2371C>G (p.Leu791Val) | |
18 | g.23539821G>T | CA401792649 | NPC1 | c.2785C>A (p.Leu929Met) n.2699C>A c.1863C>A n.78C>A c.2836C>A (p.Leu946Met) c.2371C>A (p.Leu791Met) | |
18 | g.23539822C>A | CA401792650 | NPC1 | c.2784G>T (p.Gln928His) n.2698G>T c.1862G>T n.77G>T c.2835G>T (p.Gln945His) c.2370G>T (p.Gln790His) | |
18 | g.23539822C>G | CA401792651 | NPC1 | c.2784G>C (p.Gln928His) n.2698G>C c.1862G>C n.77G>C c.2835G>C (p.Gln945His) c.2370G>C (p.Gln790His) | |
18 | g.23539822C>T | CA503322598 | NPC1 | c.2784G>A (p.Gln928=) n.2698G>A c.1862G>A n.77G>A c.2835G>A (p.Gln945=) c.2370G>A (p.Gln790=) | |
18 | g.23539823T>A | CA401792652 | NPC1 | c.2783A>T (p.Gln928Leu) n.2697A>T n.574A>T c.1861A>T n.76A>T c.2834A>T (p.Gln945Leu) c.2369A>T (p.Gln790Leu) | |
18 | g.23539823T>C | CA401792653 | NPC1 | c.2783A>G (p.Gln928Arg) n.2697A>G n.574A>G c.1861A>G n.76A>G c.2834A>G (p.Gln945Arg) c.2369A>G (p.Gln790Arg) | |
18 | g.23539823T>G | CA252496 | NPC1 | c.2783A>C (p.Gln928Pro) n.2697A>C n.574A>C c.1861A>C n.76A>C c.2834A>C (p.Gln945Pro) c.2369A>C (p.Gln790Pro) | ClinVar dbSNP gnomAD v4 |
18 | g.23539823T= | CA2290165912 | NPC1 | c.2783A= (p.Gln928=) n.2697A= n.574A= c.1861A= n.76A= c.2834A= (p.Gln945=) c.2369A= (p.Gln790=) | |
18 | g.23539824G>A | CA401792654 | NPC1 | c.2782C>T (p.Gln928Ter) n.2696C>T n.573C>T c.1860C>T n.75C>T c.2833C>T (p.Gln945Ter) c.2368C>T (p.Gln790Ter) | ClinVar |
18 | g.23539824G>C | CA401792656 | NPC1 | c.2782C>G (p.Gln928Glu) n.2696C>G n.573C>G c.1860C>G n.75C>G c.2833C>G (p.Gln945Glu) c.2368C>G (p.Gln790Glu) | |
18 | g.23539824G>T | CA401792655 | NPC1 | c.2782C>A (p.Gln928Lys) n.2696C>A n.573C>A c.1860C>A n.75C>A c.2833C>A (p.Gln945Lys) c.2368C>A (p.Gln790Lys) | |
18 | g.23539825C>A | CA503322600 | NPC1 | c.2781G>T (p.Ala927=) n.2695G>T n.572G>T c.1859G>T n.74G>T c.2832G>T (p.Ala944=) c.2367G>T (p.Ala789=) | gnomAD v4 |
18 | g.23539825C= | CA2290165913 | NPC1 | c.2781G= (p.Ala927=) n.2695G= n.572G= c.1859G= n.74G= c.2832G= (p.Ala944=) c.2367G= (p.Ala789=) | |
18 | g.23539825C>G | CA503322599 | NPC1 | c.2781G>C (p.Ala927=) n.2695G>C n.572G>C c.1859G>C n.74G>C c.2832G>C (p.Ala944=) c.2367G>C (p.Ala789=) | |
18 | g.23539825C>T | CA8912978 | NPC1 | c.2781G>A (p.Ala927=) n.2695G>A n.572G>A c.1859G>A n.74G>A c.2832G>A (p.Ala944=) c.2367G>A (p.Ala789=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539826G>A | CA8912979 | NPC1 | c.2780C>T (p.Ala927Val) n.2694C>T n.571C>T c.1858C>T n.73C>T c.2831C>T (p.Ala944Val) c.2366C>T (p.Ala789Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
18 | g.23539826G>C | CA401792657 | NPC1 | c.2780C>G (p.Ala927Gly) n.2694C>G n.571C>G c.1858C>G n.73C>G c.2831C>G (p.Ala944Gly) c.2366C>G (p.Ala789Gly) | ClinVar |
18 | g.23539826G= | CA2290165914 | NPC1 | c.2780C= (p.Ala927=) n.2694C= n.571C= c.1858C= n.73C= c.2831C= (p.Ala944=) c.2366C= (p.Ala789=) | |
18 | g.23539826G>T | CA401792658 | NPC1 | c.2780C>A (p.Ala927Glu) n.2694C>A n.571C>A c.1858C>A n.73C>A c.2831C>A (p.Ala944Glu) c.2366C>A (p.Ala789Glu) | |
18 | g.23539827C>A | CA401792661 | NPC1 | c.2779G>T (p.Ala927Ser) n.2693G>T n.570G>T c.1857G>T n.72G>T c.2830G>T (p.Ala944Ser) c.2365G>T (p.Ala789Ser) | |
18 | g.23539827C>G | CA401792660 | NPC1 | c.2779G>C (p.Ala927Pro) n.2693G>C n.570G>C c.1857G>C n.72G>C c.2830G>C (p.Ala944Pro) c.2365G>C (p.Ala789Pro) | |
18 | g.23539827C>T | CA401792659 | NPC1 | c.2779G>A (p.Ala927Thr) n.2693G>A n.570G>A c.1857G>A n.72G>A c.2830G>A (p.Ala944Thr) c.2365G>A (p.Ala789Thr) | ClinVar gnomAD v4 |
18 | g.23539828dup | CA2695227443 | NPC1 | c.2779dup (p.Ala927GlyfsTer?) n.2693dup n.570dup c.1857dup n.72dup c.2830dup (p.Ala944GlyfsTer?) c.2365dup (p.Ala789GlyfsTer?) | |
18 | g.23539828C>A | CA503322601 | NPC1 | c.2778G>T (p.Ala926=) n.2692G>T n.569G>T c.1856G>T n.71G>T c.2829G>T (p.Ala943=) c.2364G>T (p.Ala788=) | |
18 | g.23539828C= | CA2290165915 | NPC1 | c.2778G= (p.Ala926=) n.2692G= n.569G= c.1856G= n.71G= c.2829G= (p.Ala943=) c.2364G= (p.Ala788=) | |
18 | g.23539828C>G | CA503322602 | NPC1 | c.2778G>C (p.Ala926=) n.2692G>C n.569G>C c.1856G>C n.71G>C c.2829G>C (p.Ala943=) c.2364G>C (p.Ala788=) | |
18 | g.23539828C>T | CA8912980 | NPC1 | c.2778G>A (p.Ala926=) n.2692G>A n.569G>A c.1856G>A n.71G>A c.2829G>A (p.Ala943=) c.2364G>A (p.Ala788=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539829G>A | CA297012 | NPC1 | c.2777C>T (p.Ala926Val) n.2691C>T n.568C>T c.1855C>T n.70C>T c.2828C>T (p.Ala943Val) c.2363C>T (p.Ala788Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539829G>C | CA401792662 | NPC1 | c.2777C>G (p.Ala926Gly) n.2691C>G n.568C>G c.1855C>G n.70C>G c.2828C>G (p.Ala943Gly) c.2363C>G (p.Ala788Gly) | |
18 | g.23539829G= | CA2290165916 | NPC1 | c.2777C= (p.Ala926=) n.2691C= n.568C= c.1855C= n.70C= c.2828C= (p.Ala943=) c.2363C= (p.Ala788=) | |
18 | g.23539829G>T | CA401792663 | NPC1 | c.2777C>A (p.Ala926Glu) n.2691C>A n.568C>A c.1855C>A n.70C>A c.2828C>A (p.Ala943Glu) c.2363C>A (p.Ala788Glu) | |
18 | g.23539830C>A | CA401792664 | NPC1 | c.2776G>T (p.Ala926Ser) n.2690G>T n.567G>T c.1854G>T n.69G>T c.2827G>T (p.Ala943Ser) c.2362G>T (p.Ala788Ser) | |
18 | g.23539830C= | CA2290165917 | NPC1 | c.2776G= (p.Ala926=) n.2690G= n.567G= c.1854G= n.69G= c.2827G= (p.Ala943=) c.2362G= (p.Ala788=) | |
18 | g.23539830C>G | CA401792665 | NPC1 | c.2776G>C (p.Ala926Pro) n.2690G>C n.567G>C c.1854G>C n.69G>C c.2827G>C (p.Ala943Pro) c.2362G>C (p.Ala788Pro) | |
18 | g.23539830C>T | CA8912981 | NPC1 | c.2776G>A (p.Ala926Thr) n.2690G>A n.567G>A c.1854G>A n.69G>A c.2827G>A (p.Ala943Thr) c.2362G>A (p.Ala788Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539830_23539831delinsCG | CA2290165918 | NPC1 | c.2775_2776delinsCG (p.Asn925=) n.2689_2690delinsCG n.566_567delinsCG c.1853_1854delinsCG n.68_69delinsCG c.2826_2827delinsCG (p.Asn942=) c.2361_2362delinsCG (p.Asn787=) | |
18 | g.23539831del | CA16041912 | NPC1 | c.2775del (p.Asn925LysfsTer11) n.2689del n.566del c.1853del n.68del c.2826del (p.Asn942LysfsTer11) c.2361del (p.Asn787LysfsTer11) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539831G>A | CA8912982 | NPC1 | c.2775C>T (p.Asn925=) n.2689C>T n.566C>T c.1853C>T n.68C>T c.2826C>T (p.Asn942=) c.2361C>T (p.Asn787=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539831G>C | CA401792666 | NPC1 | c.2775C>G (p.Asn925Lys) n.2689C>G n.566C>G c.1853C>G n.68C>G c.2826C>G (p.Asn942Lys) c.2361C>G (p.Asn787Lys) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539831G= | CA2290165919 | NPC1 | c.2775C= (p.Asn925=) n.2689C= n.566C= c.1853C= n.68C= c.2826C= (p.Asn942=) c.2361C= (p.Asn787=) | |
18 | g.23539831G>T | CA401792667 | NPC1 | c.2775C>A (p.Asn925Lys) n.2689C>A n.566C>A c.1853C>A n.68C>A c.2826C>A (p.Asn942Lys) c.2361C>A (p.Asn787Lys) | |
18 | g.23539832T>A | CA401792668 | NPC1 | c.2774A>T (p.Asn925Ile) n.2688A>T n.565A>T c.1852A>T n.67A>T c.2825A>T (p.Asn942Ile) c.2360A>T (p.Asn787Ile) | |
18 | g.23539832T>C | CA401792669 | NPC1 | c.2774A>G (p.Asn925Ser) n.2688A>G n.565A>G c.1852A>G n.67A>G c.2825A>G (p.Asn942Ser) c.2360A>G (p.Asn787Ser) | |
18 | g.23539832T>G | CA401792670 | NPC1 | c.2774A>C (p.Asn925Thr) n.2688A>C n.565A>C c.1852A>C n.67A>C c.2825A>C (p.Asn942Thr) c.2360A>C (p.Asn787Thr) | |
18 | g.23539833T>A | CA401792671 | NPC1 | c.2773A>T (p.Asn925Tyr) n.2687A>T n.564A>T c.1851A>T n.66A>T c.2824A>T (p.Asn942Tyr) c.2359A>T (p.Asn787Tyr) | |
18 | g.23539833T>C | CA401792672 | NPC1 | c.2773A>G (p.Asn925Asp) n.2687A>G n.564A>G c.1851A>G n.66A>G c.2824A>G (p.Asn942Asp) c.2359A>G (p.Asn787Asp) | |
18 | g.23539833T>G | CA401792673 | NPC1 | c.2773A>C (p.Asn925His) n.2687A>C n.564A>C c.1851A>C n.66A>C c.2824A>C (p.Asn942His) c.2359A>C (p.Asn787His) | |
18 | g.23539834A>C | CA401792674 | NPC1 | c.2772T>G (p.Phe924Leu) n.2686T>G n.563T>G c.1850T>G n.65T>G c.2823T>G (p.Phe941Leu) c.2358T>G (p.Phe786Leu) | |
18 | g.23539834A>G | CA503322603 | NPC1 | c.2772T>C (p.Phe924=) n.2686T>C n.563T>C c.1850T>C n.65T>C c.2823T>C (p.Phe941=) c.2358T>C (p.Phe786=) | |
18 | g.23539834A>T | CA401792675 | NPC1 | c.2772T>A (p.Phe924Leu) n.2686T>A n.563T>A c.1850T>A n.65T>A c.2823T>A (p.Phe941Leu) c.2358T>A (p.Phe786Leu) | |
18 | g.23539835A>C | CA401792676 | NPC1 | c.2771T>G (p.Phe924Cys) n.2685T>G n.562T>G c.1849T>G n.64T>G c.2822T>G (p.Phe941Cys) c.2357T>G (p.Phe786Cys) | |
18 | g.23539835A>G | CA401792678 | NPC1 | c.2771T>C (p.Phe924Ser) n.2685T>C n.562T>C c.1849T>C n.64T>C c.2822T>C (p.Phe941Ser) c.2357T>C (p.Phe786Ser) | |
18 | g.23539835A>T | CA401792677 | NPC1 | c.2771T>A (p.Phe924Tyr) n.2685T>A n.562T>A c.1849T>A n.64T>A c.2822T>A (p.Phe941Tyr) c.2357T>A (p.Phe786Tyr) | |
18 | g.23539836A>C | CA401792679 | NPC1 | c.2770T>G (p.Phe924Val) n.2684T>G n.561T>G c.1848T>G n.63T>G c.2821T>G (p.Phe941Val) c.2356T>G (p.Phe786Val) | |
18 | g.23539836A>G | CA401792680 | NPC1 | c.2770T>C (p.Phe924Leu) n.2684T>C n.561T>C c.1848T>C n.63T>C c.2821T>C (p.Phe941Leu) c.2356T>C (p.Phe786Leu) | ClinVar |
18 | g.23539836A>T | CA401792681 | NPC1 | c.2770T>A (p.Phe924Ile) n.2684T>A n.561T>A c.1848T>A n.63T>A c.2821T>A (p.Phe941Ile) c.2356T>A (p.Phe786Ile) | |
18 | g.23539837T>A | CA503322604 | NPC1 | c.2769A>T (p.Ile923=) n.2683A>T n.560A>T c.1847A>T n.62A>T c.2820A>T (p.Ile940=) c.2355A>T (p.Ile785=) | |
18 | g.23539837T>C | CA401792682 | NPC1 | c.2769A>G (p.Ile923Met) n.2683A>G n.560A>G c.1847A>G n.62A>G c.2820A>G (p.Ile940Met) c.2355A>G (p.Ile785Met) | gnomAD v4 |
18 | g.23539837T>G | CA503322605 | NPC1 | c.2769A>C (p.Ile923=) n.2683A>C n.560A>C c.1847A>C n.62A>C c.2820A>C (p.Ile940=) c.2355A>C (p.Ile785=) | |
18 | g.23539838A>C | CA401792683 | NPC1 | c.2768T>G (p.Ile923Arg) n.2682T>G n.559T>G c.1846T>G n.61T>G c.2819T>G (p.Ile940Arg) c.2354T>G (p.Ile785Arg) | |
18 | g.23539838A>G | CA401792684 | NPC1 | c.2768T>C (p.Ile923Thr) n.2682T>C n.559T>C c.1846T>C n.61T>C c.2819T>C (p.Ile940Thr) c.2354T>C (p.Ile785Thr) | |
18 | g.23539838A>T | CA401792685 | NPC1 | c.2768T>A (p.Ile923Lys) n.2682T>A n.559T>A c.1846T>A n.61T>A c.2819T>A (p.Ile940Lys) c.2354T>A (p.Ile785Lys) | |
18 | g.23539839T>A | CA401792686 | NPC1 | c.2767A>T (p.Ile923Leu) n.2681A>T n.558A>T c.1845A>T n.60A>T c.2818A>T (p.Ile940Leu) c.2353A>T (p.Ile785Leu) | |
18 | g.23539839T>C | CA401792687 | NPC1 | c.2767A>G (p.Ile923Val) n.2681A>G n.558A>G c.1845A>G n.60A>G c.2818A>G (p.Ile940Val) c.2353A>G (p.Ile785Val) | ClinVar dbSNP gnomAD v4 |
18 | g.23539839T>G | CA401792688 | NPC1 | c.2767A>C (p.Ile923Leu) n.2681A>C n.558A>C c.1845A>C n.60A>C c.2818A>C (p.Ile940Leu) c.2353A>C (p.Ile785Leu) | |
18 | g.23539839T= | CA2290165920 | NPC1 | c.2767A= (p.Ile923=) n.2681A= n.558A= c.1845A= n.60A= c.2818A= (p.Ile940=) c.2353A= (p.Ile785=) | |
18 | g.23539840C>A | CA401792689 | NPC1 | c.2766G>T (p.Gln922His) n.2680G>T n.557G>T c.1844G>T n.59G>T c.2817G>T (p.Gln939His) c.2352G>T (p.Gln784His) | |
18 | g.23539840C>G | CA401792690 | NPC1 | c.2766G>C (p.Gln922His) n.2680G>C n.557G>C c.1844G>C n.59G>C c.2817G>C (p.Gln939His) c.2352G>C (p.Gln784His) | |
18 | g.23539840C>T | CA503322606 | NPC1 | c.2766G>A (p.Gln922=) n.2680G>A n.557G>A c.1844G>A n.59G>A c.2817G>A (p.Gln939=) c.2352G>A (p.Gln784=) | |
18 | g.23539841T>A | CA401792691 | NPC1 | c.2765A>T (p.Gln922Leu) n.2679A>T n.556A>T c.1843A>T n.58A>T c.2816A>T (p.Gln939Leu) c.2351A>T (p.Gln784Leu) | |
18 | g.23539841T>C | CA401792692 | NPC1 | c.2765A>G (p.Gln922Arg) n.2679A>G n.556A>G c.1843A>G n.58A>G c.2816A>G (p.Gln939Arg) c.2351A>G (p.Gln784Arg) | |
18 | g.23539841T>G | CA401792693 | NPC1 | c.2765A>C (p.Gln922Pro) n.2679A>C n.556A>C c.1843A>C n.58A>C c.2816A>C (p.Gln939Pro) c.2351A>C (p.Gln784Pro) | |
18 | g.23539842G>A | CA274292 | NPC1 | c.2764C>T (p.Gln922Ter) n.2678C>T n.555C>T c.1842C>T n.57C>T c.2815C>T (p.Gln939Ter) c.2350C>T (p.Gln784Ter) | ClinVar dbSNP gnomAD v4 |
18 | g.23539842G>C | CA401792694 | NPC1 | c.2764C>G (p.Gln922Glu) n.2678C>G n.555C>G c.1842C>G n.57C>G c.2815C>G (p.Gln939Glu) c.2350C>G (p.Gln784Glu) | |
18 | g.23539842G= | CA2290165921 | NPC1 | c.2764C= (p.Gln922=) n.2678C= n.555C= c.1842C= n.57C= c.2815C= (p.Gln939=) c.2350C= (p.Gln784=) | |
18 | g.23539842G>T | CA401792695 | NPC1 | c.2764C>A (p.Gln922Lys) n.2678C>A n.555C>A c.1842C>A n.57C>A c.2815C>A (p.Gln939Lys) c.2350C>A (p.Gln784Lys) | gnomAD v4 |
18 | g.23539843C>A | CA401792696 | NPC1 | c.2763G>T (p.Gln921His) n.2677G>T n.554G>T c.1841G>T n.56G>T c.2814G>T (p.Gln938His) c.2349G>T (p.Gln783His) | |
18 | g.23539843C>G | CA401792697 | NPC1 | c.2763G>C (p.Gln921His) n.2677G>C n.554G>C c.1841G>C n.56G>C c.2814G>C (p.Gln938His) c.2349G>C (p.Gln783His) | |
18 | g.23539843C>T | CA503322607 | NPC1 | c.2763G>A (p.Gln921=) n.2677G>A n.554G>A c.1841G>A n.56G>A c.2814G>A (p.Gln938=) c.2349G>A (p.Gln783=) | |
18 | g.23539843_23539844delinsCT | CA2290165922 | NPC1 | c.2762_2763delinsAG (p.Gln921=) n.2676_2677delinsAG n.553_554delinsAG c.1840_1841delinsAG n.55_56delinsAG c.2813_2814delinsAG (p.Gln938=) c.2348_2349delinsAG (p.Gln783=) | |
18 | g.23539844del | CA777719882 | NPC1 | c.2762del (p.Gln921ArgfsTer15) n.2676del n.553del c.1840del n.55del c.2813del (p.Gln938ArgfsTer15) c.2348del (p.Gln783ArgfsTer15) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23539844T>A | CA401792698 | NPC1 | c.2762A>T (p.Gln921Leu) n.2676A>T n.553A>T c.1840A>T n.55A>T c.2813A>T (p.Gln938Leu) c.2348A>T (p.Gln783Leu) | |
18 | g.23539844T>C | CA401792699 | NPC1 | c.2762A>G (p.Gln921Arg) n.2676A>G n.553A>G c.1840A>G n.55A>G c.2813A>G (p.Gln938Arg) c.2348A>G (p.Gln783Arg) | |
18 | g.23539844T>G | CA401792700 | NPC1 | c.2762A>C (p.Gln921Pro) n.2676A>C n.553A>C c.1840A>C n.55A>C c.2813A>C (p.Gln938Pro) c.2348A>C (p.Gln783Pro) | gnomAD v4 |
18 | g.23539845G>A | CA274036 | NPC1 | c.2761C>T (p.Gln921Ter) n.2675C>T n.552C>T c.1839C>T n.54C>T c.2812C>T (p.Gln938Ter) c.2347C>T (p.Gln783Ter) | ClinVar dbSNP gnomAD v4 |
18 | g.23539845G>C | CA401792702 | NPC1 | c.2761C>G (p.Gln921Glu) n.2675C>G n.552C>G c.1839C>G n.54C>G c.2812C>G (p.Gln938Glu) c.2347C>G (p.Gln783Glu) | |
18 | g.23539845G= | CA2290165923 | NPC1 | c.2761C= (p.Gln921=) n.2675C= n.552C= c.1839C= n.54C= c.2812C= (p.Gln938=) c.2347C= (p.Gln783=) | |
18 | g.23539845G>T | CA401792701 | NPC1 | c.2761C>A (p.Gln921Lys) n.2675C>A n.552C>A c.1839C>A n.54C>A c.2812C>A (p.Gln938Lys) c.2347C>A (p.Gln783Lys) | |
18 | g.23539846C>A | CA503322610 | NPC1 | c.2760G>T (p.Val920=) n.2674G>T n.551G>T c.1838G>T n.53G>T c.2811G>T (p.Val937=) c.2346G>T (p.Val782=) | |
18 | g.23539846C>G | CA503322609 | NPC1 | c.2760G>C (p.Val920=) n.2674G>C n.551G>C c.1838G>C n.53G>C c.2811G>C (p.Val937=) c.2346G>C (p.Val782=) | |
18 | g.23539846C>T | CA503322608 | NPC1 | c.2760G>A (p.Val920=) n.2674G>A n.551G>A c.1838G>A n.53G>A c.2811G>A (p.Val937=) c.2346G>A (p.Val782=) | ClinVar dbSNP |
18 | g.23539847A= | CA2290165924 | NPC1 | c.2759T= (p.Val920=) n.2673T= n.550T= c.1837T= n.52T= c.2810T= (p.Val937=) c.2345T= (p.Val782=) | |
18 | g.23539847A>C | CA401792703 | NPC1 | c.2759T>G (p.Val920Gly) n.2673T>G n.550T>G c.1837T>G n.52T>G c.2810T>G (p.Val937Gly) c.2345T>G (p.Val782Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539847A>G | CA401792704 | NPC1 | c.2759T>C (p.Val920Ala) n.2673T>C n.550T>C c.1837T>C n.52T>C c.2810T>C (p.Val937Ala) c.2345T>C (p.Val782Ala) | gnomAD v4 |
18 | g.23539847A>T | CA401792706 | NPC1 | c.2759T>A (p.Val920Glu) n.2673T>A n.550T>A c.1837T>A n.52T>A c.2810T>A (p.Val937Glu) c.2345T>A (p.Val782Glu) | |
18 | g.23539848C>A | CA401792708 | NPC1 | c.2758G>T (p.Val920Leu) n.2672G>T n.549G>T c.1836G>T n.51G>T c.2809G>T (p.Val937Leu) c.2344G>T (p.Val782Leu) | |
18 | g.23539848C>G | CA401792709 | NPC1 | c.2758G>C (p.Val920Leu) n.2672G>C n.549G>C c.1836G>C n.51G>C c.2809G>C (p.Val937Leu) c.2344G>C (p.Val782Leu) | |
18 | g.23539848C>T | CA401792710 | NPC1 | c.2758G>A (p.Val920Met) n.2672G>A n.549G>A c.1836G>A n.51G>A c.2809G>A (p.Val937Met) c.2344G>A (p.Val782Met) | ClinVar gnomAD v4 |
18 | g.23539849C>A | CA8912984 | NPC1 | c.2757G>T (p.Leu919=) n.2671G>T n.548G>T c.1835G>T n.50G>T c.2808G>T (p.Leu936=) c.2343G>T (p.Leu781=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539849C= | CA2290165925 | NPC1 | c.2757G= (p.Leu919=) n.2671G= n.548G= c.1835G= n.50G= c.2808G= (p.Leu936=) c.2343G= (p.Leu781=) | |
18 | g.23539849C>G | CA8912983 | NPC1 | c.2757G>C (p.Leu919=) n.2671G>C n.548G>C c.1835G>C n.50G>C c.2808G>C (p.Leu936=) c.2343G>C (p.Leu781=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539849C>T | CA503322611 | NPC1 | c.2757G>A (p.Leu919=) n.2671G>A n.548G>A c.1835G>A n.50G>A c.2808G>A (p.Leu936=) c.2343G>A (p.Leu781=) | gnomAD v4 |
18 | g.23539850A>C | CA401792711 | NPC1 | c.2756T>G (p.Leu919Arg) n.2670T>G n.547T>G c.1834T>G n.49T>G c.2807T>G (p.Leu936Arg) c.2342T>G (p.Leu781Arg) | |
18 | g.23539850A>G | CA401792712 | NPC1 | c.2756T>C (p.Leu919Pro) n.2670T>C n.547T>C c.1834T>C n.49T>C c.2807T>C (p.Leu936Pro) c.2342T>C (p.Leu781Pro) | |
18 | g.23539850A>T | CA401792713 | NPC1 | c.2756T>A (p.Leu919Gln) n.2670T>A n.547T>A c.1834T>A n.49T>A c.2807T>A (p.Leu936Gln) c.2342T>A (p.Leu781Gln) | ClinVar |
18 | g.23539851G>A | CA503322612 | NPC1 | c.2755C>T (p.Leu919=) n.2669C>T n.546C>T c.1833C>T n.48C>T c.2806C>T (p.Leu936=) c.2341C>T (p.Leu781=) | |
18 | g.23539851G>C | CA401792714 | NPC1 | c.2755C>G (p.Leu919Val) n.2669C>G n.546C>G c.1833C>G n.48C>G c.2806C>G (p.Leu936Val) c.2341C>G (p.Leu781Val) | |
18 | g.23539851G>T | CA401792715 | NPC1 | c.2755C>A (p.Leu919Met) n.2669C>A n.546C>A c.1833C>A n.48C>A c.2806C>A (p.Leu936Met) c.2341C>A (p.Leu781Met) | |
18 | g.23539852G>A | CA503322613 | NPC1 | c.2754C>T (p.Ser918=) n.2668C>T n.545C>T c.1832C>T n.47C>T c.2805C>T (p.Ser935=) c.2340C>T (p.Ser780=) | |
18 | g.23539852G>C | CA503322615 | NPC1 | c.2754C>G (p.Ser918=) n.2668C>G n.545C>G c.1832C>G n.47C>G c.2805C>G (p.Ser935=) c.2340C>G (p.Ser780=) | gnomAD v4 |
18 | g.23539852G>T | CA503322614 | NPC1 | c.2754C>A (p.Ser918=) n.2668C>A n.545C>A c.1832C>A n.47C>A c.2805C>A (p.Ser935=) c.2340C>A (p.Ser780=) | |
18 | g.23539853G>A | CA401792717 | NPC1 | c.2753C>T (p.Ser918Phe) n.2667C>T n.544C>T c.1831C>T n.46C>T c.2804C>T (p.Ser935Phe) c.2339C>T (p.Ser780Phe) | COSMIC |
18 | g.23539853G>C | CA401792718 | NPC1 | c.2753C>G (p.Ser918Cys) n.2667C>G n.544C>G c.1831C>G n.46C>G c.2804C>G (p.Ser935Cys) c.2339C>G (p.Ser780Cys) | |
18 | g.23539853G>T | CA401792716 | NPC1 | c.2753C>A (p.Ser918Tyr) n.2667C>A n.544C>A c.1831C>A n.46C>A c.2804C>A (p.Ser935Tyr) c.2339C>A (p.Ser780Tyr) | |
18 | g.23539854A>C | CA401792719 | NPC1 | c.2752T>G (p.Ser918Ala) n.2666T>G n.543T>G c.1830T>G n.45T>G c.2803T>G (p.Ser935Ala) c.2338T>G (p.Ser780Ala) | gnomAD v4 |
18 | g.23539854A>G | CA401792720 | NPC1 | c.2752T>C (p.Ser918Pro) n.2666T>C n.543T>C c.1830T>C n.45T>C c.2803T>C (p.Ser935Pro) c.2338T>C (p.Ser780Pro) | |
18 | g.23539854A>T | CA401792721 | NPC1 | c.2752T>A (p.Ser918Thr) n.2666T>A n.543T>A c.1830T>A n.45T>A c.2803T>A (p.Ser935Thr) c.2338T>A (p.Ser780Thr) | |
18 | g.23539855A>C | CA401792722 | NPC1 | c.2751T>G (p.Asp917Glu) n.2665T>G n.542T>G c.1829T>G n.44T>G c.2802T>G (p.Asp934Glu) c.2337T>G (p.Asp779Glu) | |
18 | g.23539855A>G | CA503322616 | NPC1 | c.2751T>C (p.Asp917=) n.2665T>C n.542T>C c.1829T>C n.44T>C c.2802T>C (p.Asp934=) c.2337T>C (p.Asp779=) | |
18 | g.23539855A>T | CA401792723 | NPC1 | c.2751T>A (p.Asp917Glu) n.2665T>A n.542T>A c.1829T>A n.44T>A c.2802T>A (p.Asp934Glu) c.2337T>A (p.Asp779Glu) | |
18 | g.23539857_23539872del | CA2580095523 | NPC1 | c.2736_2751del (p.Met912IlefsTer19) n.2650_2665del n.527_542del c.1814_1829del n.29_44del c.2787_2802del (p.Met929IlefsTer19) c.2322_2337del (p.Met774IlefsTer19) | ClinVar |
18 | g.23539856T>A | CA401792726 | NPC1 | c.2750A>T (p.Asp917Val) n.2664A>T n.541A>T c.1828A>T n.43A>T c.2801A>T (p.Asp934Val) c.2336A>T (p.Asp779Val) | |
18 | g.23539856T>C | CA401792724 | NPC1 | c.2750A>G (p.Asp917Gly) n.2664A>G n.541A>G c.1828A>G n.43A>G c.2801A>G (p.Asp934Gly) c.2336A>G (p.Asp779Gly) | |
18 | g.23539856T>G | CA401792725 | NPC1 | c.2750A>C (p.Asp917Ala) n.2664A>C n.541A>C c.1828A>C n.43A>C c.2801A>C (p.Asp934Ala) c.2336A>C (p.Asp779Ala) | |
18 | g.23539857C>A | CA401792727 | NPC1 | c.2749G>T (p.Asp917Tyr) n.2663G>T n.540G>T c.1827G>T n.42G>T c.2800G>T (p.Asp934Tyr) c.2335G>T (p.Asp779Tyr) | gnomAD v4 |
18 | g.23539857C>G | CA401792728 | NPC1 | c.2749G>C (p.Asp917His) n.2663G>C n.540G>C c.1827G>C n.42G>C c.2800G>C (p.Asp934His) c.2335G>C (p.Asp779His) | |
18 | g.23539857C>T | CA401792729 | NPC1 | c.2749G>A (p.Asp917Asn) n.2663G>A n.540G>A c.1827G>A n.42G>A c.2800G>A (p.Asp934Asn) c.2335G>A (p.Asp779Asn) | |
18 | g.23539857_23539860delinsCATT | CA2290165926 | NPC1 | c.2746_2749delinsAATG (p.Asn916=) n.2660_2663delinsAATG n.537_540delinsAATG c.1824_1827delinsAATG n.39_42delinsAATG c.2797_2800delinsAATG (p.Asn933=) c.2332_2335delinsAATG (p.Asn778=) | |
18 | g.23539858A= | CA2290165927 | NPC1 | c.2748T= (p.Asn916=) n.2662T= n.539T= c.1826T= n.41T= c.2799T= (p.Asn933=) c.2334T= (p.Asn778=) | |
18 | g.23539858A>C | CA401792730 | NPC1 | c.2748T>G (p.Asn916Lys) n.2662T>G n.539T>G c.1826T>G n.41T>G c.2799T>G (p.Asn933Lys) c.2334T>G (p.Asn778Lys) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539858A>G | CA503322617 | NPC1 | c.2748T>C (p.Asn916=) n.2662T>C n.539T>C c.1826T>C n.41T>C c.2799T>C (p.Asn933=) c.2334T>C (p.Asn778=) | ClinVar |
18 | g.23539858A>T | CA401792731 | NPC1 | c.2748T>A (p.Asn916Lys) n.2662T>A n.539T>A c.1826T>A n.41T>A c.2799T>A (p.Asn933Lys) c.2334T>A (p.Asn778Lys) | |
18 | g.23539858_23539860del | CA628978765 | NPC1 | c.2746_2748del (p.Asn916del) n.2660_2662del n.537_539del c.1824_1826del n.39_41del c.2797_2799del (p.Asn933del) c.2332_2334del (p.Asn778del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539859T>A | CA401792733 | NPC1 | c.2747A>T (p.Asn916Ile) n.2661A>T n.538A>T c.1825A>T n.40A>T c.2798A>T (p.Asn933Ile) c.2333A>T (p.Asn778Ile) | |
18 | g.23539859T>C | CA8912985 | NPC1 | c.2747A>G (p.Asn916Ser) n.2661A>G n.538A>G c.1825A>G n.40A>G c.2798A>G (p.Asn933Ser) c.2333A>G (p.Asn778Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539859T>G | CA401792732 | NPC1 | c.2747A>C (p.Asn916Thr) n.2661A>C n.538A>C c.1825A>C n.40A>C c.2798A>C (p.Asn933Thr) c.2333A>C (p.Asn778Thr) | |
18 | g.23539859T= | CA2290165928 | NPC1 | c.2747A= (p.Asn916=) n.2661A= n.538A= c.1825A= n.40A= c.2798A= (p.Asn933=) c.2333A= (p.Asn778=) | |
18 | g.23539860T>A | CA401792734 | NPC1 | c.2746A>T (p.Asn916Tyr) n.2660A>T n.537A>T c.1824A>T n.39A>T c.2797A>T (p.Asn933Tyr) c.2332A>T (p.Asn778Tyr) | |
18 | g.23539860T>C | CA401792735 | NPC1 | c.2746A>G (p.Asn916Asp) n.2660A>G n.537A>G c.1824A>G n.39A>G c.2797A>G (p.Asn933Asp) c.2332A>G (p.Asn778Asp) | |
18 | g.23539860T>G | CA401792736 | NPC1 | c.2746A>C (p.Asn916His) n.2660A>C n.537A>C c.1824A>C n.39A>C c.2797A>C (p.Asn933His) c.2332A>C (p.Asn778His) | |
18 | g.23539861G>A | CA503322618 | NPC1 | c.2745C>T (p.Asn915=) n.2659C>T n.536C>T c.1823C>T n.38C>T c.2796C>T (p.Asn932=) c.2331C>T (p.Asn777=) | |
18 | g.23539861G>C | CA401792737 | NPC1 | c.2745C>G (p.Asn915Lys) n.2659C>G n.536C>G c.1823C>G n.38C>G c.2796C>G (p.Asn932Lys) c.2331C>G (p.Asn777Lys) | |
18 | g.23539861G>T | CA401792738 | NPC1 | c.2745C>A (p.Asn915Lys) n.2659C>A n.536C>A c.1823C>A n.38C>A c.2796C>A (p.Asn932Lys) c.2331C>A (p.Asn777Lys) | |
18 | g.23539862T>A | CA401792739 | NPC1 | c.2744A>T (p.Asn915Ile) n.2658A>T n.535A>T c.1822A>T n.37A>T c.2795A>T (p.Asn932Ile) c.2330A>T (p.Asn777Ile) | |
18 | g.23539862T>C | CA401792740 | NPC1 | c.2744A>G (p.Asn915Ser) n.2658A>G n.535A>G c.1822A>G n.37A>G c.2795A>G (p.Asn932Ser) c.2330A>G (p.Asn777Ser) | |
18 | g.23539862T>G | CA401792741 | NPC1 | c.2744A>C (p.Asn915Thr) n.2658A>C n.535A>C c.1822A>C n.37A>C c.2795A>C (p.Asn932Thr) c.2330A>C (p.Asn777Thr) | |
18 | g.23539863T>A | CA401792742 | NPC1 | c.2743A>T (p.Asn915Tyr) n.2657A>T n.534A>T c.1821A>T n.36A>T c.2794A>T (p.Asn932Tyr) c.2329A>T (p.Asn777Tyr) | |
18 | g.23539863T>C | CA401792743 | NPC1 | c.2743A>G (p.Asn915Asp) n.2657A>G n.534A>G c.1821A>G n.36A>G c.2794A>G (p.Asn932Asp) c.2329A>G (p.Asn777Asp) | |
18 | g.23539863T>G | CA401792744 | NPC1 | c.2743A>C (p.Asn915His) n.2657A>C n.534A>C c.1821A>C n.36A>C c.2794A>C (p.Asn932His) c.2329A>C (p.Asn777His) | |
18 | g.23539864G>A | CA503322619 | NPC1 | c.2742C>T (p.Cys914=) n.2656C>T n.533C>T c.1820C>T n.35C>T c.2793C>T (p.Cys931=) c.2328C>T (p.Cys776=) | |
18 | g.23539864G>C | CA401792745 | NPC1 | c.2742C>G (p.Cys914Trp) n.2656C>G n.533C>G c.1820C>G n.35C>G c.2793C>G (p.Cys931Trp) c.2328C>G (p.Cys776Trp) | |
18 | g.23539864G= | CA2290165929 | NPC1 | c.2742C= (p.Cys914=) n.2656C= n.533C= c.1820C= n.35C= c.2793C= (p.Cys931=) c.2328C= (p.Cys776=) | |
18 | g.23539864G>T | CA401792746 | NPC1 | c.2742C>A (p.Cys914Ter) n.2656C>A n.533C>A c.1820C>A n.35C>A c.2793C>A (p.Cys931Ter) c.2328C>A (p.Cys776Ter) | ClinVar dbSNP |
18 | g.23539865C>A | CA401792747 | NPC1 | c.2741G>T (p.Cys914Phe) n.2655G>T n.532G>T c.1819G>T n.34G>T c.2792G>T (p.Cys931Phe) c.2327G>T (p.Cys776Phe) | |
18 | g.23539865C>G | CA401792749 | NPC1 | c.2741G>C (p.Cys914Ser) n.2655G>C n.532G>C c.1819G>C n.34G>C c.2792G>C (p.Cys931Ser) c.2327G>C (p.Cys776Ser) | |
18 | g.23539865C>T | CA401792748 | NPC1 | c.2741G>A (p.Cys914Tyr) n.2655G>A n.532G>A c.1819G>A n.34G>A c.2792G>A (p.Cys931Tyr) c.2327G>A (p.Cys776Tyr) | |
18 | g.23539866A>C | CA401792750 | NPC1 | c.2740T>G (p.Cys914Gly) n.2654T>G n.531T>G c.1818T>G n.33T>G c.2791T>G (p.Cys931Gly) c.2326T>G (p.Cys776Gly) | |
18 | g.23539866A>G | CA401792751 | NPC1 | c.2740T>C (p.Cys914Arg) n.2654T>C n.531T>C c.1818T>C n.33T>C c.2791T>C (p.Cys931Arg) c.2326T>C (p.Cys776Arg) | |
18 | g.23539866A>T | CA401792752 | NPC1 | c.2740T>A (p.Cys914Ser) n.2654T>A n.531T>A c.1818T>A n.33T>A c.2791T>A (p.Cys931Ser) c.2326T>A (p.Cys776Ser) | ClinVar |
18 | g.23539867G>A | CA503322620 | NPC1 | c.2739C>T (p.Gly913=) n.2653C>T n.530C>T c.1817C>T n.32C>T c.2790C>T (p.Gly930=) c.2325C>T (p.Gly775=) | |
18 | g.23539867G>C | CA503322621 | NPC1 | c.2739C>G (p.Gly913=) n.2653C>G n.530C>G c.1817C>G n.32C>G c.2790C>G (p.Gly930=) c.2325C>G (p.Gly775=) | |
18 | g.23539867G= | CA2290165930 | NPC1 | c.2739C= (p.Gly913=) n.2653C= n.530C= c.1817C= n.32C= c.2790C= (p.Gly930=) c.2325C= (p.Gly775=) | |
18 | g.23539867G>T | CA503322622 | NPC1 | c.2739C>A (p.Gly913=) n.2653C>A n.530C>A c.1817C>A n.32C>A c.2790C>A (p.Gly930=) c.2325C>A (p.Gly775=) | ClinVar dbSNP gnomAD v4 |
18 | g.23539868C>A | CA401792753 | NPC1 | c.2738G>T (p.Gly913Val) n.2652G>T n.529G>T c.1816G>T n.31G>T c.2789G>T (p.Gly930Val) c.2324G>T (p.Gly775Val) | |
18 | g.23539868C>G | CA401792754 | NPC1 | c.2738G>C (p.Gly913Ala) n.2652G>C n.529G>C c.1816G>C n.31G>C c.2789G>C (p.Gly930Ala) c.2324G>C (p.Gly775Ala) | |
18 | g.23539868C>T | CA401792755 | NPC1 | c.2738G>A (p.Gly913Asp) n.2652G>A n.529G>A c.1816G>A n.31G>A c.2789G>A (p.Gly930Asp) c.2324G>A (p.Gly775Asp) | |
18 | g.23539869C>A | CA401792756 | NPC1 | c.2737G>T (p.Gly913Cys) n.2651G>T n.528G>T c.1815G>T n.30G>T c.2788G>T (p.Gly930Cys) c.2323G>T (p.Gly775Cys) | |
18 | g.23539869C>G | CA401792757 | NPC1 | c.2737G>C (p.Gly913Arg) n.2651G>C n.528G>C c.1815G>C n.30G>C c.2788G>C (p.Gly930Arg) c.2323G>C (p.Gly775Arg) | |
18 | g.23539869C>T | CA401792758 | NPC1 | c.2737G>A (p.Gly913Ser) n.2651G>A n.528G>A c.1815G>A n.30G>A c.2788G>A (p.Gly930Ser) c.2323G>A (p.Gly775Ser) | |
18 | g.23539870C>A | CA401792759 | NPC1 | c.2736G>T (p.Met912Ile) n.2650G>T n.527G>T c.1814G>T n.29G>T c.2787G>T (p.Met929Ile) c.2322G>T (p.Met774Ile) | |
18 | g.23539870C>G | CA401792760 | NPC1 | c.2736G>C (p.Met912Ile) n.2650G>C n.527G>C c.1814G>C n.29G>C c.2787G>C (p.Met929Ile) c.2322G>C (p.Met774Ile) | |
18 | g.23539870C>T | CA401792761 | NPC1 | c.2736G>A (p.Met912Ile) n.2650G>A n.527G>A c.1814G>A n.29G>A c.2787G>A (p.Met929Ile) c.2322G>A (p.Met774Ile) | |
18 | g.23539871A= | CA2290165931 | NPC1 | c.2735T= (p.Met912=) n.2649T= n.526T= c.1813T= n.28T= c.2786T= (p.Met929=) c.2321T= (p.Met774=) | |
18 | g.23539871A>C | CA401792763 | NPC1 | c.2735T>G (p.Met912Arg) n.2649T>G n.526T>G c.1813T>G n.28T>G c.2786T>G (p.Met929Arg) c.2321T>G (p.Met774Arg) | |
18 | g.23539871A>G | CA8912986 | NPC1 | c.2735T>C (p.Met912Thr) n.2649T>C n.526T>C c.1813T>C n.28T>C c.2786T>C (p.Met929Thr) c.2321T>C (p.Met774Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539871A>T | CA401792762 | NPC1 | c.2735T>A (p.Met912Lys) n.2649T>A n.526T>A c.1813T>A n.28T>A c.2786T>A (p.Met929Lys) c.2321T>A (p.Met774Lys) | |
18 | g.23539872T>A | CA401792764 | NPC1 | c.2734A>T (p.Met912Leu) n.2648A>T n.525A>T c.1812A>T n.27A>T c.2785A>T (p.Met929Leu) c.2320A>T (p.Met774Leu) | |
18 | g.23539872T>C | CA8912988 | NPC1 | c.2734A>G (p.Met912Val) n.2648A>G n.525A>G c.1812A>G n.27A>G c.2785A>G (p.Met929Val) c.2320A>G (p.Met774Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539872T>G | CA8912987 | NPC1 | c.2734A>C (p.Met912Leu) n.2648A>C n.525A>C c.1812A>C n.27A>C c.2785A>C (p.Met929Leu) c.2320A>C (p.Met774Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539872T= | CA2290165932 | NPC1 | c.2734A= (p.Met912=) n.2648A= n.525A= c.1812A= n.27A= c.2785A= (p.Met929=) c.2320A= (p.Met774=) | |
18 | g.23539873G>A | CA503322624 | NPC1 | c.2733C>T (p.Gly911=) n.2647C>T n.524C>T c.1811C>T n.26C>T c.2784C>T (p.Gly928=) c.2319C>T (p.Gly773=) | |
18 | g.23539873G>C | CA503322625 | NPC1 | c.2733C>G (p.Gly911=) n.2647C>G n.524C>G c.1811C>G n.26C>G c.2784C>G (p.Gly928=) c.2319C>G (p.Gly773=) | |
18 | g.23539873G>T | CA503322623 | NPC1 | c.2733C>A (p.Gly911=) n.2647C>A n.524C>A c.1811C>A n.26C>A c.2784C>A (p.Gly928=) c.2319C>A (p.Gly773=) | |
18 | g.23539874C>A | CA401792765 | NPC1 | c.2732G>T (p.Gly911Val) n.2646G>T n.523G>T c.1810G>T n.25G>T c.2783G>T (p.Gly928Val) c.2318G>T (p.Gly773Val) | |
18 | g.23539874C>G | CA401792766 | NPC1 | c.2732G>C (p.Gly911Ala) n.2646G>C n.523G>C c.1810G>C n.25G>C c.2783G>C (p.Gly928Ala) c.2318G>C (p.Gly773Ala) | |
18 | g.23539874C>T | CA401792767 | NPC1 | c.2732G>A (p.Gly911Asp) n.2646G>A n.523G>A c.1810G>A n.25G>A c.2783G>A (p.Gly928Asp) c.2318G>A (p.Gly773Asp) | |
18 | g.23539875C>A | CA401792768 | NPC1 | c.2731G>T (p.Gly911Cys) n.2645G>T n.522G>T c.1809G>T n.24G>T c.2782G>T (p.Gly928Cys) c.2317G>T (p.Gly773Cys) | |
18 | g.23539875C= | CA2290165933 | NPC1 | c.2731G= (p.Gly911=) n.2645G= n.522G= c.1809G= n.24G= c.2782G= (p.Gly928=) c.2317G= (p.Gly773=) | |
18 | g.23539875C>G | CA401792769 | NPC1 | c.2731G>C (p.Gly911Arg) n.2645G>C n.522G>C c.1809G>C n.24G>C c.2782G>C (p.Gly928Arg) c.2317G>C (p.Gly773Arg) | |
18 | g.23539875C>T | CA297005 | NPC1 | c.2731G>A (p.Gly911Ser) n.2645G>A n.522G>A c.1809G>A n.24G>A c.2782G>A (p.Gly928Ser) c.2317G>A (p.Gly773Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.23539876del | CA2811805047 | NPC1 | c.2730del (p.Gly911AlafsTer25) n.2644del n.521del c.1808del n.23del c.2781del (p.Gly928AlafsTer25) c.2316del (p.Gly773AlafsTer25) | |
18 | g.23539876G>A | CA8912989 | NPC1 | c.2730C>T (p.Gly910=) n.2644C>T n.521C>T c.1808C>T n.23C>T c.2781C>T (p.Gly927=) c.2316C>T (p.Gly772=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.23539876G>C | CA503322627 | NPC1 | c.2730C>G (p.Gly910=) n.2644C>G n.521C>G c.1808C>G n.23C>G c.2781C>G (p.Gly927=) c.2316C>G (p.Gly772=) | |
18 | g.23539876G= | CA2290165934 | NPC1 | c.2730C= (p.Gly910=) n.2644C= n.521C= c.1808C= n.23C= c.2781C= (p.Gly927=) c.2316C= (p.Gly772=) | |
18 | g.23539876G>T | CA503322626 | NPC1 | c.2730C>A (p.Gly910=) n.2644C>A n.521C>A c.1808C>A n.23C>A c.2781C>A (p.Gly927=) c.2316C>A (p.Gly772=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539877C>A | CA401792770 | NPC1 | c.2729G>T (p.Gly910Val) n.2643G>T n.520G>T c.1807G>T n.22G>T c.2780G>T (p.Gly927Val) c.2315G>T (p.Gly772Val) | |
18 | g.23539877C>G | CA401792771 | NPC1 | c.2729G>C (p.Gly910Ala) n.2643G>C n.520G>C c.1807G>C n.22G>C c.2780G>C (p.Gly927Ala) c.2315G>C (p.Gly772Ala) | |
18 | g.23539877C>T | CA401792772 | NPC1 | c.2729G>A (p.Gly910Asp) n.2643G>A n.520G>A c.1807G>A n.22G>A c.2780G>A (p.Gly927Asp) c.2315G>A (p.Gly772Asp) | |
18 | g.23539878C>A | CA401792773 | NPC1 | c.2728G>T (p.Gly910Cys) n.2642G>T n.519G>T c.1806G>T n.21G>T c.2779G>T (p.Gly927Cys) c.2314G>T (p.Gly772Cys) | |
18 | g.23539878C= | CA2290165935 | NPC1 | c.2728G= (p.Gly910=) n.2642G= n.519G= c.1806G= n.21G= c.2779G= (p.Gly927=) c.2314G= (p.Gly772=) | |
18 | g.23539878C>G | CA401792774 | NPC1 | c.2728G>C (p.Gly910Arg) n.2642G>C n.519G>C c.1806G>C n.21G>C c.2779G>C (p.Gly927Arg) c.2314G>C (p.Gly772Arg) | |
18 | g.23539878C>T | CA8912990 | NPC1 | c.2728G>A (p.Gly910Ser) n.2642G>A n.519G>A c.1806G>A n.21G>A c.2779G>A (p.Gly927Ser) c.2314G>A (p.Gly772Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23539879del | CA2811805053 | NPC1 | c.2727del (p.Cys909TrpfsTer27) n.2641del n.518del c.1805del n.20del c.2778del (p.Cys926TrpfsTer27) c.2313del (p.Cys771TrpfsTer27) | |
18 | g.23539879G>A | CA8912991 | NPC1 | c.2727C>T (p.Cys909=) n.2641C>T n.518C>T c.1805C>T n.20C>T c.2778C>T (p.Cys926=) c.2313C>T (p.Cys771=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
18 | g.23539879G>C | CA401792775 | NPC1 | c.2727C>G (p.Cys909Trp) n.2641C>G n.518C>G c.1805C>G n.20C>G c.2778C>G (p.Cys926Trp) c.2313C>G (p.Cys771Trp) | |
18 | g.23539879G= | CA2290165936 | NPC1 | c.2727C= (p.Cys909=) n.2641C= n.518C= c.1805C= n.20C= c.2778C= (p.Cys926=) c.2313C= (p.Cys771=) | |
18 | g.23539879G>T | CA401792776 | NPC1 | c.2727C>A (p.Cys909Ter) n.2641C>A n.518C>A c.1805C>A n.20C>A c.2778C>A (p.Cys926Ter) c.2313C>A (p.Cys771Ter) | |
18 | g.23539880C>A | CA401792777 | NPC1 | c.2726G>T (p.Cys909Phe) n.2640G>T n.517G>T c.1804G>T n.19G>T c.2777G>T (p.Cys926Phe) c.2312G>T (p.Cys771Phe) | |
18 | g.23539880C>G | CA401792778 | NPC1 | c.2726G>C (p.Cys909Ser) n.2640G>C n.517G>C c.1804G>C n.19G>C c.2777G>C (p.Cys926Ser) c.2312G>C (p.Cys771Ser) | |
18 | g.23539880C>T | CA401792779 | NPC1 | c.2726G>A (p.Cys909Tyr) n.2640G>A n.517G>A c.1804G>A n.19G>A c.2777G>A (p.Cys926Tyr) c.2312G>A (p.Cys771Tyr) | |
18 | g.23539881A>C | CA401792782 | NPC1 | c.2725T>G (p.Cys909Gly) n.2639T>G n.516T>G c.1803T>G n.18T>G c.2776T>G (p.Cys926Gly) c.2311T>G (p.Cys771Gly) | |
18 | g.23539881A>G | CA401792781 | NPC1 | c.2725T>C (p.Cys909Arg) n.2639T>C n.516T>C c.1803T>C n.18T>C c.2776T>C (p.Cys926Arg) c.2311T>C (p.Cys771Arg) | gnomAD v4 |
18 | g.23539881A>T | CA401792780 | NPC1 | c.2725T>A (p.Cys909Ser) n.2639T>A n.516T>A c.1803T>A n.18T>A c.2776T>A (p.Cys926Ser) c.2311T>A (p.Cys771Ser) | |
18 | g.23539882C>A | CA503322628 | NPC1 | c.2724G>T (p.Val908=) n.2638G>T n.515G>T c.1802G>T n.17G>T c.2775G>T (p.Val925=) c.2310G>T (p.Val770=) | |
18 | g.23539882C>G | CA503322629 | NPC1 | c.2724G>C (p.Val908=) n.2638G>C n.515G>C c.1802G>C n.17G>C c.2775G>C (p.Val925=) c.2310G>C (p.Val770=) | |
18 | g.23539882C>T | CA503322630 | NPC1 | c.2724G>A (p.Val908=) n.2638G>A n.515G>A c.1802G>A n.17G>A c.2775G>A (p.Val925=) c.2310G>A (p.Val770=) | gnomAD v4 |
18 | g.23539883A= | CA2290165937 | NPC1 | c.2723T= (p.Val908=) n.2637T= n.514T= c.1801T= n.16T= c.2774T= (p.Val925=) c.2309T= (p.Val770=) | |
18 | g.23539883A>C | CA401792783 | NPC1 | c.2723T>G (p.Val908Gly) n.2637T>G n.514T>G c.1801T>G n.16T>G c.2774T>G (p.Val925Gly) c.2309T>G (p.Val770Gly) | |
18 | g.23539883A>G | CA401792784 | NPC1 | c.2723T>C (p.Val908Ala) n.2637T>C n.514T>C c.1801T>C n.16T>C c.2774T>C (p.Val925Ala) c.2309T>C (p.Val770Ala) | dbSNP gnomAD v2 |
18 | g.23539883A>T | CA401792785 | NPC1 | c.2723T>A (p.Val908Glu) n.2637T>A n.514T>A c.1801T>A n.16T>A c.2774T>A (p.Val925Glu) c.2309T>A (p.Val770Glu) | |
18 | g.23539884C>A | CA401792786 | NPC1 | c.2722G>T (p.Val908Leu) n.2636G>T n.513G>T c.1800G>T n.15G>T c.2773G>T (p.Val925Leu) c.2308G>T (p.Val770Leu) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23539884C= | CA2290165938 | NPC1 | c.2722G= (p.Val908=) n.2636G= n.513G= c.1800G= n.15G= c.2773G= (p.Val925=) c.2308G= (p.Val770=) | |
18 | g.23539884C>G | CA401792787 | NPC1 | c.2722G>C (p.Val908Leu) n.2636G>C n.513G>C c.1800G>C n.15G>C c.2773G>C (p.Val925Leu) c.2308G>C (p.Val770Leu) | |
18 | g.23539884C>T | CA401792788 | NPC1 | c.2722G>A (p.Val908Met) n.2636G>A n.513G>A c.1800G>A n.15G>A c.2773G>A (p.Val925Met) c.2308G>A (p.Val770Met) | |
18 | g.23539885C>A | CA401792789 | NPC1 | c.2721G>T (p.Met907Ile) n.2635G>T n.512G>T c.1799G>T n.14G>T c.2772G>T (p.Met924Ile) c.2307G>T (p.Met769Ile) | |
18 | g.23539885C>G | CA401792791 | NPC1 | c.2721G>C (p.Met907Ile) n.2635G>C n.512G>C c.1799G>C n.14G>C c.2772G>C (p.Met924Ile) c.2307G>C (p.Met769Ile) | gnomAD v4 |
18 | g.23539885C>T | CA401792790 | NPC1 | c.2721G>A (p.Met907Ile) n.2635G>A n.512G>A c.1799G>A n.14G>A c.2772G>A (p.Met924Ile) c.2307G>A (p.Met769Ile) | |
18 | g.23539886A>C | CA401792792 | NPC1 | c.2720T>G (p.Met907Arg) n.2634T>G n.511T>G c.1798T>G n.13T>G c.2771T>G (p.Met924Arg) c.2306T>G (p.Met769Arg) | |
18 | g.23539886A>G | CA401792793 | NPC1 | c.2720T>C (p.Met907Thr) n.2634T>C n.511T>C c.1798T>C n.13T>C c.2771T>C (p.Met924Thr) c.2306T>C (p.Met769Thr) | |
18 | g.23539886A>T | CA401792794 | NPC1 | c.2720T>A (p.Met907Lys) n.2634T>A n.511T>A c.1798T>A n.13T>A c.2771T>A (p.Met924Lys) c.2306T>A (p.Met769Lys) | |
18 | g.23539887del | CA2580095526 | NPC1 | c.2719del (p.Met907TrpfsTer29) n.2633del n.510del c.1797del n.12del c.2770del (p.Met924TrpfsTer29) c.2305del (p.Met769TrpfsTer29) | ClinVar |
18 | g.23539887T>A | CA401792795 | NPC1 | c.2719A>T (p.Met907Leu) n.2633A>T n.510A>T c.1797A>T n.12A>T c.2770A>T (p.Met924Leu) c.2305A>T (p.Met769Leu) | |
18 | g.23539887T>C | CA8912992 | NPC1 | c.2719A>G (p.Met907Val) n.2633A>G n.510A>G c.1797A>G n.12A>G c.2770A>G (p.Met924Val) c.2305A>G (p.Met769Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539887T>G | CA401792796 | NPC1 | c.2719A>C (p.Met907Leu) n.2633A>C n.510A>C c.1797A>C n.12A>C c.2770A>C (p.Met924Leu) c.2305A>C (p.Met769Leu) | gnomAD v4 |
18 | g.23539887T= | CA2290165939 | NPC1 | c.2719A= (p.Met907=) n.2633A= n.510A= c.1797A= n.12A= c.2770A= (p.Met924=) c.2305A= (p.Met769=) | |
18 | g.23539888G>A | CA503322631 | NPC1 | c.2718C>T (p.Asn906=) n.2632C>T n.509C>T c.1796C>T n.11C>T c.2769C>T (p.Asn923=) c.2304C>T (p.Asn768=) | |
18 | g.23539888G>C | CA401792797 | NPC1 | c.2718C>G (p.Asn906Lys) n.2632C>G n.509C>G c.1796C>G n.11C>G c.2769C>G (p.Asn923Lys) c.2304C>G (p.Asn768Lys) | |
18 | g.23539888G>T | CA401792798 | NPC1 | c.2718C>A (p.Asn906Lys) n.2632C>A n.509C>A c.1796C>A n.11C>A c.2769C>A (p.Asn923Lys) c.2304C>A (p.Asn768Lys) | |
18 | g.23539889T>A | CA401792799 | NPC1 | c.2717A>T (p.Asn906Ile) n.2631A>T n.508A>T c.1795A>T n.10A>T c.2768A>T (p.Asn923Ile) c.2303A>T (p.Asn768Ile) | |
18 | g.23539889T>C | CA401792800 | NPC1 | c.2717A>G (p.Asn906Ser) n.2631A>G n.508A>G c.1795A>G n.10A>G c.2768A>G (p.Asn923Ser) c.2303A>G (p.Asn768Ser) | |
18 | g.23539889T>G | CA401792801 | NPC1 | c.2717A>C (p.Asn906Thr) n.2631A>C n.508A>C c.1795A>C n.10A>C c.2768A>C (p.Asn923Thr) c.2303A>C (p.Asn768Thr) | |
18 | g.23539890T>A | CA401792804 | NPC1 | c.2716A>T (p.Asn906Tyr) n.2630A>T n.507A>T c.1794A>T n.9A>T c.2767A>T (p.Asn923Tyr) c.2302A>T (p.Asn768Tyr) | |
18 | g.23539890T>C | CA401792803 | NPC1 | c.2716A>G (p.Asn906Asp) n.2630A>G n.507A>G c.1794A>G n.9A>G c.2767A>G (p.Asn923Asp) c.2302A>G (p.Asn768Asp) | gnomAD v4 |
18 | g.23539890T>G | CA401792802 | NPC1 | c.2716A>C (p.Asn906His) n.2630A>C n.507A>C c.1794A>C n.9A>C c.2767A>C (p.Asn923His) c.2302A>C (p.Asn768His) | |
18 | g.23539891C>A | CA401792806 | NPC1 | c.2715G>T (p.Gln905His) n.2629G>T n.506G>T c.1793G>T n.8G>T c.2766G>T (p.Gln922His) c.2301G>T (p.Gln767His) | |
18 | g.23539891C>G | CA401792805 | NPC1 | c.2715G>C (p.Gln905His) n.2629G>C n.506G>C c.1793G>C n.8G>C c.2766G>C (p.Gln922His) c.2301G>C (p.Gln767His) | |
18 | g.23539891C>T | CA503322632 | NPC1 | c.2715G>A (p.Gln905=) n.2629G>A n.506G>A c.1793G>A n.8G>A c.2766G>A (p.Gln922=) c.2301G>A (p.Gln767=) | ClinVar gnomAD v4 |
18 | g.23539892T>A | CA401792807 | NPC1 | c.2714A>T (p.Gln905Leu) n.2628A>T n.505A>T c.1792A>T n.7A>T c.2765A>T (p.Gln922Leu) c.2300A>T (p.Gln767Leu) | |
18 | g.23539892T>C | CA401792808 | NPC1 | c.2714A>G (p.Gln905Arg) n.2628A>G n.505A>G c.1792A>G n.7A>G c.2765A>G (p.Gln922Arg) c.2300A>G (p.Gln767Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23539892T>G | CA401792809 | NPC1 | c.2714A>C (p.Gln905Pro) n.2628A>C n.505A>C c.1792A>C n.7A>C c.2765A>C (p.Gln922Pro) c.2300A>C (p.Gln767Pro) | |
18 | g.23539892T= | CA2290165940 | NPC1 | c.2714A= (p.Gln905=) n.2628A= n.505A= c.1792A= n.7A= c.2765A= (p.Gln922=) c.2300A= (p.Gln767=) | |
18 | g.23539893G>A | CA16616710 | NPC1 | c.2713C>T (p.Gln905Ter) n.2627C>T n.504C>T c.1791C>T n.6C>T c.2764C>T (p.Gln922Ter) c.2299C>T (p.Gln767Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
18 | g.23539893G>C | CA401792810 | NPC1 | c.2713C>G (p.Gln905Glu) n.2627C>G n.504C>G c.1791C>G n.6C>G c.2764C>G (p.Gln922Glu) c.2299C>G (p.Gln767Glu) | |
18 | g.23539893G= | CA2290165941 | NPC1 | c.2713C= (p.Gln905=) n.2627C= n.504C= c.1791C= n.6C= c.2764C= (p.Gln922=) c.2299C= (p.Gln767=) | |
18 | g.23539893G>T | CA401792811 | NPC1 | c.2713C>A (p.Gln905Lys) n.2627C>A n.504C>A c.1791C>A n.6C>A c.2764C>A (p.Gln922Lys) c.2299C>A (p.Gln767Lys) | |
18 | g.23539893_23539894del | CA913014994 | NPC1 | c.2712_2713del (p.Gln905GlufsTer12) n.2626_2627del n.503_504del c.1790_1791del n.5_6del c.2763_2764del (p.Gln922GlufsTer12) c.2298_2299del (p.Gln767GlufsTer12) | |
18 | g.23539893_23539894delinsGC | CA2290165942 | NPC1 | c.2712_2713delinsGC (p.Gly904=) n.2626_2627delinsGC n.503_504delinsGC c.1790_1791delinsGC n.5_6delinsGC c.2763_2764delinsGC (p.Gly921=) c.2298_2299delinsGC (p.Gly766=) | |
18 | g.23539894C>A | CA8912993 | NPC1 | c.2712G>T (p.Gly904=) n.2626G>T n.503G>T c.1790G>T n.5G>T c.2763G>T (p.Gly921=) c.2298G>T (p.Gly766=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23539894C= | CA2290165943 | NPC1 | c.2712G= (p.Gly904=) n.2626G= n.503G= c.1790G= n.5G= c.2763G= (p.Gly921=) c.2298G= (p.Gly766=) | |
18 | g.23539894C>G | CA503322634 | NPC1 | c.2712G>C (p.Gly904=) n.2626G>C n.503G>C c.1790G>C n.5G>C c.2763G>C (p.Gly921=) c.2298G>C (p.Gly766=) | |
18 | g.23539894C>T | CA503322633 | NPC1 | c.2712G>A (p.Gly904=) n.2626G>A n.503G>A c.1790G>A n.5G>A c.2763G>A (p.Gly921=) c.2298G>A (p.Gly766=) | |
18 | g.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) |