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