| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23539417A= | CA2290165742 | NPC1 | c.2849T= (p.Val950=) c.1927T= n.482T= c.2900T= (p.Val967=) c.2435T= (p.Val812=) | |
| 18 | g.23539417A>C | CA16043142 | NPC1 | c.2849T>G (p.Val950Gly) c.1927T>G n.482T>G c.2900T>G (p.Val967Gly) c.2435T>G (p.Val812Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23539417A>G | CA401792495 | NPC1 | c.2849T>C (p.Val950Ala) c.1927T>C n.482T>C c.2900T>C (p.Val967Ala) c.2435T>C (p.Val812Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23539417A>T | CA401792496 | NPC1 | c.2849T>A (p.Val950Glu) c.1927T>A n.482T>A c.2900T>A (p.Val967Glu) c.2435T>A (p.Val812Glu) | |
| 18 | g.23539418C>A | CA401792497 | NPC1 | c.2848G>T (p.Val950Leu) c.1926G>T n.481G>T c.2899G>T (p.Val967Leu) c.2434G>T (p.Val812Leu) | |
| 18 | g.23539418C= | CA2290165743 | NPC1 | c.2848G= (p.Val950=) c.1926G= n.481G= c.2899G= (p.Val967=) c.2434G= (p.Val812=) | |
| 18 | g.23539418C>G | CA401792498 | NPC1 | c.2848G>C (p.Val950Leu) c.1926G>C n.481G>C c.2899G>C (p.Val967Leu) c.2434G>C (p.Val812Leu) | |
| 18 | g.23539418C>T | CA281534 | NPC1 | c.2848G>A (p.Val950Met) c.1926G>A n.481G>A c.2899G>A (p.Val967Met) c.2434G>A (p.Val812Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23539419C>A | CA401792499 | NPC1 | c.2847G>T (p.Trp949Cys) c.1925G>T n.480G>T c.2898G>T (p.Trp966Cys) c.2433G>T (p.Trp811Cys) | |
| 18 | g.23539419C>G | CA401792501 | NPC1 | c.2847G>C (p.Trp949Cys) c.1925G>C n.480G>C c.2898G>C (p.Trp966Cys) c.2433G>C (p.Trp811Cys) | |
| 18 | g.23539419C>T | CA401792500 | NPC1 | c.2847G>A (p.Trp949Ter) c.1925G>A n.480G>A c.2898G>A (p.Trp966Ter) c.2433G>A (p.Trp811Ter) | ClinVar dbSNP |
| 18 | g.23539420C>A | CA401792502 | NPC1 | c.2846G>T (p.Trp949Leu) c.1924G>T n.479G>T c.2897G>T (p.Trp966Leu) c.2432G>T (p.Trp811Leu) | |
| 18 | g.23539420C>G | CA401792503 | NPC1 | c.2846G>C (p.Trp949Ser) c.1924G>C n.479G>C c.2897G>C (p.Trp966Ser) c.2432G>C (p.Trp811Ser) | |
| 18 | g.23539420C>T | CA401792504 | NPC1 | c.2846G>A (p.Trp949Ter) c.1924G>A n.479G>A c.2897G>A (p.Trp966Ter) c.2432G>A (p.Trp811Ter) | |
| 18 | g.23539421A>C | CA401792505 | NPC1 | c.2845T>G (p.Trp949Gly) c.1923T>G n.478T>G c.2896T>G (p.Trp966Gly) c.2431T>G (p.Trp811Gly) | |
| 18 | g.23539421A>G | CA401792506 | NPC1 | c.2845T>C (p.Trp949Arg) c.1923T>C n.478T>C c.2896T>C (p.Trp966Arg) c.2431T>C (p.Trp811Arg) | |
| 18 | g.23539421A>T | CA401792507 | NPC1 | c.2845T>A (p.Trp949Arg) c.1923T>A n.478T>A c.2896T>A (p.Trp966Arg) c.2431T>A (p.Trp811Arg) | |
| 18 | g.23539422G>A | CA503322568 | NPC1 | c.2844C>T (p.Asp948=) c.1922C>T n.477C>T c.2895C>T (p.Asp965=) c.2430C>T (p.Asp810=) | ClinVar |
| 18 | g.23539422G>C | CA401792508 | NPC1 | c.2844C>G (p.Asp948Glu) c.1922C>G n.477C>G c.2895C>G (p.Asp965Glu) c.2430C>G (p.Asp810Glu) | |
| 18 | g.23539422G>T | CA401792509 | NPC1 | c.2844C>A (p.Asp948Glu) c.1922C>A n.477C>A c.2895C>A (p.Asp965Glu) c.2430C>A (p.Asp810Glu) | |
| 18 | g.23539423T>A | CA401792510 | NPC1 | c.2843A>T (p.Asp948Val) c.1921A>T n.476A>T c.2894A>T (p.Asp965Val) c.2429A>T (p.Asp810Val) | |
| 18 | g.23539423T>C | CA401792511 | NPC1 | c.2843A>G (p.Asp948Gly) c.1921A>G n.476A>G c.2894A>G (p.Asp965Gly) c.2429A>G (p.Asp810Gly) | |
| 18 | g.23539423T>G | CA401792512 | NPC1 | c.2843A>C (p.Asp948Ala) c.1921A>C n.476A>C c.2894A>C (p.Asp965Ala) c.2429A>C (p.Asp810Ala) | |
| 18 | g.23539424C>A | CA401792515 | NPC1 | c.2842G>T (p.Asp948Tyr) c.1920G>T n.475G>T c.2893G>T (p.Asp965Tyr) c.2428G>T (p.Asp810Tyr) | gnomAD v4 |
| 18 | g.23539424C= | CA2290165744 | NPC1 | c.2842G= (p.Asp948=) c.1920G= n.475G= c.2893G= (p.Asp965=) c.2428G= (p.Asp810=) | |
| 18 | g.23539424C>G | CA401792514 | NPC1 | c.2842G>C (p.Asp948His) c.1920G>C n.475G>C c.2893G>C (p.Asp965His) c.2428G>C (p.Asp810His) | gnomAD v4 |
| 18 | g.23539424C>T | CA401792513 | NPC1 | c.2842G>A (p.Asp948Asn) c.1920G>A n.475G>A c.2893G>A (p.Asp965Asn) c.2428G>A (p.Asp810Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23539425G>A | CA8912944 | NPC1 | c.2841C>T (p.Phe947=) c.1919C>T n.474C>T c.2892C>T (p.Phe964=) c.2427C>T (p.Phe809=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.23539425G>C | CA401792516 | NPC1 | c.2841C>G (p.Phe947Leu) c.1919C>G n.474C>G c.2892C>G (p.Phe964Leu) c.2427C>G (p.Phe809Leu) | gnomAD v4 |
| 18 | g.23539425G= | CA2290165745 | NPC1 | c.2841C= (p.Phe947=) c.1919C= n.474C= c.2892C= (p.Phe964=) c.2427C= (p.Phe809=) | |
| 18 | g.23539425G>T | CA401792517 | NPC1 | c.2841C>A (p.Phe947Leu) c.1919C>A n.474C>A c.2892C>A (p.Phe964Leu) c.2427C>A (p.Phe809Leu) | |
| 18 | g.23539426A= | CA2290165746 | NPC1 | c.2840T= (p.Phe947=) c.1918T= n.473T= c.2891T= (p.Phe964=) c.2426T= (p.Phe809=) | |
| 18 | g.23539426A>C | CA401792518 | NPC1 | c.2840T>G (p.Phe947Cys) c.1918T>G n.473T>G c.2891T>G (p.Phe964Cys) c.2426T>G (p.Phe809Cys) | |
| 18 | g.23539426A>G | CA401792519 | NPC1 | c.2840T>C (p.Phe947Ser) c.1918T>C n.473T>C c.2891T>C (p.Phe964Ser) c.2426T>C (p.Phe809Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23539426A>T | CA401792520 | NPC1 | c.2840T>A (p.Phe947Tyr) c.1918T>A n.473T>A c.2891T>A (p.Phe964Tyr) c.2426T>A (p.Phe809Tyr) | |
| 18 | g.23539427A>C | CA401792521 | NPC1 | c.2839T>G (p.Phe947Val) c.1917T>G n.472T>G c.2890T>G (p.Phe964Val) c.2425T>G (p.Phe809Val) | |
| 18 | g.23539427A>G | CA401792522 | NPC1 | c.2839T>C (p.Phe947Leu) c.1917T>C n.472T>C c.2890T>C (p.Phe964Leu) c.2425T>C (p.Phe809Leu) | |
| 18 | g.23539427A>T | CA401792523 | NPC1 | c.2839T>A (p.Phe947Ile) c.1917T>A n.472T>A c.2890T>A (p.Phe964Ile) c.2425T>A (p.Phe809Ile) | |
| 18 | g.23539428A>C | CA401792524 | NPC1 | c.2838T>G (p.Tyr946Ter) c.1916T>G n.471T>G c.2889T>G (p.Tyr963Ter) c.2424T>G (p.Tyr808Ter) | |
| 18 | g.23539428A>G | CA503322569 | NPC1 | c.2838T>C (p.Tyr946=) c.1916T>C n.471T>C c.2889T>C (p.Tyr963=) c.2424T>C (p.Tyr808=) | |
| 18 | g.23539428A>T | CA401792525 | NPC1 | c.2838T>A (p.Tyr946Ter) c.1916T>A n.471T>A c.2889T>A (p.Tyr963Ter) c.2424T>A (p.Tyr808Ter) | |
| 18 | g.23539429T>A | CA401792528 | NPC1 | c.2837A>T (p.Tyr946Phe) c.1915A>T n.470A>T c.2888A>T (p.Tyr963Phe) c.2423A>T (p.Tyr808Phe) | |
| 18 | g.23539429T>C | CA401792527 | NPC1 | c.2837A>G (p.Tyr946Cys) c.1915A>G n.470A>G c.2888A>G (p.Tyr963Cys) c.2423A>G (p.Tyr808Cys) | |
| 18 | g.23539429T>G | CA401792526 | NPC1 | c.2837A>C (p.Tyr946Ser) c.1915A>C n.470A>C c.2888A>C (p.Tyr963Ser) c.2423A>C (p.Tyr808Ser) | |
| 18 | g.23539430A>C | CA401792529 | NPC1 | c.2836T>G (p.Tyr946Asp) c.1914T>G n.469T>G c.2887T>G (p.Tyr963Asp) c.2422T>G (p.Tyr808Asp) | |
| 18 | g.23539430A>G | CA401792531 | NPC1 | c.2836T>C (p.Tyr946His) c.1914T>C n.469T>C c.2887T>C (p.Tyr963His) c.2422T>C (p.Tyr808His) | gnomAD v4 |
| 18 | g.23539430A>T | CA401792530 | NPC1 | c.2836T>A (p.Tyr946Asn) c.1914T>A n.469T>A c.2887T>A (p.Tyr963Asn) c.2422T>A (p.Tyr808Asn) | ClinVar |
| 18 | g.23539431A>C | CA401792532 | NPC1 | c.2835T>G (p.Asp945Glu) c.1913T>G n.468T>G c.2886T>G (p.Asp962Glu) c.2421T>G (p.Asp807Glu) | |
| 18 | g.23539431A>G | CA503322570 | NPC1 | c.2835T>C (p.Asp945=) c.1913T>C n.468T>C c.2886T>C (p.Asp962=) c.2421T>C (p.Asp807=) | |
| 18 | g.23539431A>T | CA401792533 | NPC1 | c.2835T>A (p.Asp945Glu) c.1913T>A n.468T>A c.2886T>A (p.Asp962Glu) c.2421T>A (p.Asp807Glu) |