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