Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23560171T>C | CA2641271629 | NPC1 | c.881+60A>G (n.881+60A>G) n.795+60A>G c.112+60A>G c.416+60A>G (n.416+60A>G) | gnomAD v4 |
18 | g.23560172C>G | CA2641271631 | NPC1 | c.881+59G>C (n.881+59G>C) n.795+59G>C c.112+59G>C c.416+59G>C (n.416+59G>C) | gnomAD v4 |
18 | g.23560174A= | CA2290175634 | NPC1 | c.881+57T= (n.881+57T=) n.795+57T= c.112+57T= c.416+57T= (n.416+57T=) | |
18 | g.23560174A>C | CA777721719 | NPC1 | c.881+57T>G (n.881+57T>G) n.795+57T>G c.112+57T>G c.416+57T>G (n.416+57T>G) | dbSNP |
18 | g.23560176G>A | CA2641271632 | NPC1 | c.881+55C>T (n.881+55C>T) n.795+55C>T c.112+55C>T c.416+55C>T (n.416+55C>T) | gnomAD v4 |
18 | g.23560176G= | CA2290175635 | NPC1 | c.881+55C= (n.881+55C=) n.795+55C= c.112+55C= c.416+55C= (n.416+55C=) | |
18 | g.23560176G>T | CA777721720 | NPC1 | c.881+55C>A (n.881+55C>A) n.795+55C>A c.112+55C>A c.416+55C>A (n.416+55C>A) | dbSNP gnomAD v4 |
18 | g.23560177T>C | CA2641271633 | NPC1 | c.881+54A>G (n.881+54A>G) n.795+54A>G c.112+54A>G c.416+54A>G (n.416+54A>G) | gnomAD v4 |
18 | g.23560178G>A | CA297074499 | NPC1 | c.881+53C>T (n.881+53C>T) n.795+53C>T c.112+53C>T c.416+53C>T (n.416+53C>T) | dbSNP |
18 | g.23560178G= | CA2290175636 | NPC1 | c.881+53C= (n.881+53C=) n.795+53C= c.112+53C= c.416+53C= (n.416+53C=) | |
18 | g.23560178G>T | CA2641271634 | NPC1 | c.881+53C>A (n.881+53C>A) n.795+53C>A c.112+53C>A c.416+53C>A (n.416+53C>A) | gnomAD v4 |
18 | g.23560179C>A | CA2641271635 | NPC1 | c.881+52G>T (n.881+52G>T) n.795+52G>T c.112+52G>T c.416+52G>T (n.416+52G>T) | gnomAD v4 |
18 | g.23560179C>T | CA2641271636 | NPC1 | c.881+52G>A (n.881+52G>A) n.795+52G>A c.112+52G>A c.416+52G>A (n.416+52G>A) | gnomAD v4 |
18 | g.23560180C>A | CA2840551468 | NPC1 | c.881+51G>T (n.881+51G>T) n.795+51G>T c.112+51G>T c.416+51G>T (n.416+51G>T) | |
18 | g.23560182G>A | CA2290175638 | NPC1 | c.881+49C>T (n.881+49C>T) n.795+49C>T c.112+49C>T c.416+49C>T (n.416+49C>T) | dbSNP gnomAD v4 |
18 | g.23560182G>C | CA2641271638 | NPC1 | c.881+49C>G (n.881+49C>G) n.795+49C>G c.112+49C>G c.416+49C>G (n.416+49C>G) | gnomAD v4 |
18 | g.23560182G= | CA2290175637 | NPC1 | c.881+49C= (n.881+49C=) n.795+49C= c.112+49C= c.416+49C= (n.416+49C=) | |
18 | g.23560183T>C | CA2290175640 | NPC1 | c.881+48A>G (n.881+48A>G) n.795+48A>G c.112+48A>G c.416+48A>G (n.416+48A>G) | dbSNP gnomAD v4 |
18 | g.23560183T>G | CA628978816 | NPC1 | c.881+48A>C (n.881+48A>C) n.795+48A>C c.112+48A>C c.416+48A>C (n.416+48A>C) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23560183T= | CA2290175639 | NPC1 | c.881+48A= (n.881+48A=) n.795+48A= c.112+48A= c.416+48A= (n.416+48A=) | |
18 | g.23560184G>A | CA8913613 | NPC1 | c.881+47C>T (n.881+47C>T) n.795+47C>T c.112+47C>T c.416+47C>T (n.416+47C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23560184G= | CA2290175641 | NPC1 | c.881+47C= (n.881+47C=) n.795+47C= c.112+47C= c.416+47C= (n.416+47C=) | |
18 | g.23560184G>T | CA2838554241 | NPC1 | c.881+47C>A (n.881+47C>A) n.795+47C>A c.112+47C>A c.416+47C>A (n.416+47C>A) | |
18 | g.23560185G>A | CA2734279676 | NPC1 | c.881+46C>T (n.881+46C>T) n.795+46C>T c.112+46C>T c.416+46C>T (n.416+46C>T) | dbSNP |
18 | g.23560185G>C | CA628978817 | NPC1 | c.881+46C>G (n.881+46C>G) n.795+46C>G c.112+46C>G c.416+46C>G (n.416+46C>G) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23560185G= | CA2290175642 | NPC1 | c.881+46C= (n.881+46C=) n.795+46C= c.112+46C= c.416+46C= (n.416+46C=) | |
18 | g.23560186G>A | CA2838554243 | NPC1 | c.881+45C>T (n.881+45C>T) n.795+45C>T c.112+45C>T c.416+45C>T (n.416+45C>T) | |
18 | g.23560186G>C | CA2641271645 | NPC1 | c.881+45C>G (n.881+45C>G) n.795+45C>G c.112+45C>G c.416+45C>G (n.416+45C>G) | gnomAD v4 |
18 | g.23560187C= | CA2290175643 | NPC1 | c.881+44G= (n.881+44G=) n.795+44G= c.112+44G= c.416+44G= (n.416+44G=) | |
18 | g.23560187C>T | CA628978818 | NPC1 | c.881+44G>A (n.881+44G>A) n.795+44G>A c.112+44G>A c.416+44G>A (n.416+44G>A) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23560189A= | CA2290175644 | NPC1 | c.881+42T= (n.881+42T=) n.795+42T= c.112+42T= c.416+42T= (n.416+42T=) | |
18 | g.23560189A>G | CA8913614 | NPC1 | c.881+42T>C (n.881+42T>C) n.795+42T>C c.112+42T>C c.416+42T>C (n.416+42T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560189_23560196del | CA2641271650 | NPC1 | c.881+35_881+42del (n.881+35_881+42del) n.795+35_795+42del c.112+35_112+42del c.416+35_416+42del (n.416+35_416+42del) | gnomAD v4 |
18 | g.23560190T>C | CA2576471065 | NPC1 | c.881+41A>G (n.881+41A>G) n.795+41A>G c.112+41A>G c.416+41A>G (n.416+41A>G) | |
18 | g.23560193del | CA2641271653 | NPC1 | c.881+41del (n.881+41del) n.795+41del c.112+41del c.416+41del (n.416+41del) | gnomAD v4 |
18 | g.23560193T>C | CA2641271654 | NPC1 | c.881+38A>G (n.881+38A>G) n.795+38A>G c.112+38A>G c.416+38A>G (n.416+38A>G) | gnomAD v4 |
18 | g.23560194G>C | CA8913615 | NPC1 | c.881+37C>G (n.881+37C>G) n.795+37C>G c.112+37C>G c.416+37C>G (n.416+37C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560194G= | CA2290175645 | NPC1 | c.881+37C= (n.881+37C=) n.795+37C= c.112+37C= c.416+37C= (n.416+37C=) | |
18 | g.23560194G>T | CA8913616 | NPC1 | c.881+37C>A (n.881+37C>A) n.795+37C>A c.112+37C>A c.416+37C>A (n.416+37C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560194_23560196delinsGCT | CA2290175646 | NPC1 | c.881+35_881+37delinsAGC (n.881+35_881+37delinsAGC) n.795+35_795+37delinsAGC c.112+35_112+37delinsAGC c.416+35_416+37delinsAGC (n.416+35_416+37delinsAGC) | |
18 | g.23560195C>T | CA2641271660 | NPC1 | c.881+36G>A (n.881+36G>A) n.795+36G>A c.112+36G>A c.416+36G>A (n.416+36G>A) | gnomAD v4 |
18 | g.23560197_23560198del | CA628978819 | NPC1 | c.881+35_881+36del (n.881+35_881+36del) n.795+35_795+36del c.112+35_112+36del c.416+35_416+36del (n.416+35_416+36del) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23560198T>A | CA2840551469 | NPC1 | c.881+33A>T (n.881+33A>T) n.795+33A>T c.112+33A>T c.416+33A>T (n.416+33A>T) | |
18 | g.23560202del | CA2641271662 | NPC1 | c.881+33del (n.881+33del) n.795+33del c.112+33del c.416+33del (n.416+33del) | gnomAD v4 |
18 | g.23560199T>G | CA8913617 | NPC1 | c.881+32A>C (n.881+32A>C) n.795+32A>C c.112+32A>C c.416+32A>C (n.416+32A>C) | dbSNP ExAC gnomAD v2 |
18 | g.23560199T= | CA2290175647 | NPC1 | c.881+32A= (n.881+32A=) n.795+32A= c.112+32A= c.416+32A= (n.416+32A=) | |
18 | g.23560200T>A | CA8913618 | NPC1 | c.881+31A>T (n.881+31A>T) n.795+31A>T c.112+31A>T c.416+31A>T (n.416+31A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23560200T= | CA2290175648 | NPC1 | c.881+31A= (n.881+31A=) n.795+31A= c.112+31A= c.416+31A= (n.416+31A=) | |
18 | g.23560201T>C | CA297074539 | NPC1 | c.881+30A>G (n.881+30A>G) n.795+30A>G c.112+30A>G c.416+30A>G (n.416+30A>G) | dbSNP gnomAD v4 |
18 | g.23560201T= | CA2290175649 | NPC1 | c.881+30A= (n.881+30A=) n.795+30A= c.112+30A= c.416+30A= (n.416+30A=) | |
18 | g.23560202T>C | CA2641271665 | NPC1 | c.881+29A>G (n.881+29A>G) n.795+29A>G c.112+29A>G c.416+29A>G (n.416+29A>G) | gnomAD v4 |
18 | g.23560202_23560203insA | CA2811805419 | NPC1 | c.881+28_881+29insT (n.881+28_881+29insT) n.795+28_795+29insT c.112+28_112+29insT c.416+28_416+29insT (n.416+28_416+29insT) | |
18 | g.23560203G>A | CA8913619 | NPC1 | c.881+28C>T (n.881+28C>T) n.795+28C>T c.112+28C>T c.416+28C>T (n.416+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23560203G= | CA2290175650 | NPC1 | c.881+28C= (n.881+28C=) n.795+28C= c.112+28C= c.416+28C= (n.416+28C=) | |
18 | g.23560204C>T | CA2641271668 | NPC1 | c.881+27G>A (n.881+27G>A) n.795+27G>A c.112+27G>A c.416+27G>A (n.416+27G>A) | gnomAD v4 |
18 | g.23560206dup | CA2840551470 | NPC1 | c.881+27dup (n.881+27dup) n.795+27dup c.112+27dup c.416+27dup (n.416+27dup) | |
18 | g.23560206del | CA2839103493 | NPC1 | c.881+27del (n.881+27del) n.795+27del c.112+27del c.416+27del (n.416+27del) | |
18 | g.23560205C>A | CA2840055144 | NPC1 | c.881+26G>T (n.881+26G>T) n.795+26G>T c.112+26G>T c.416+26G>T (n.416+26G>T) | |
18 | g.23560205C= | CA2290175651 | NPC1 | c.881+26G= (n.881+26G=) n.795+26G= c.112+26G= c.416+26G= (n.416+26G=) | |
18 | g.23560205C>T | CA628978820 | NPC1 | c.881+26G>A (n.881+26G>A) n.795+26G>A c.112+26G>A c.416+26G>A (n.416+26G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560206C>A | CA2838522010 | NPC1 | c.881+25G>T (n.881+25G>T) n.795+25G>T c.112+25G>T c.416+25G>T (n.416+25G>T) | |
18 | g.23560206C>G | CA2641271670 | NPC1 | c.881+25G>C (n.881+25G>C) n.795+25G>C c.112+25G>C c.416+25G>C (n.416+25G>C) | gnomAD v4 |
18 | g.23560207T>G | CA297074543 | NPC1 | c.881+24A>C (n.881+24A>C) n.795+24A>C c.112+24A>C c.416+24A>C (n.416+24A>C) | dbSNP gnomAD v4 |
18 | g.23560207T= | CA2290175652 | NPC1 | c.881+24A= (n.881+24A=) n.795+24A= c.112+24A= c.416+24A= (n.416+24A=) | |
18 | g.23560209G= | CA2290175653 | NPC1 | c.881+22C= (n.881+22C=) n.795+22C= c.112+22C= c.416+22C= (n.416+22C=) | |
18 | g.23560209G>T | CA988393792 | NPC1 | c.881+22C>A (n.881+22C>A) n.795+22C>A c.112+22C>A c.416+22C>A (n.416+22C>A) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23560211_23560213del | CA2641271672 | NPC1 | c.881+20_881+22del (n.881+20_881+22del) n.795+20_795+22del c.112+20_112+22del c.416+20_416+22del (n.416+20_416+22del) | gnomAD v4 |
18 | g.23560211T>C | CA628978822 | NPC1 | c.881+20A>G (n.881+20A>G) n.795+20A>G c.112+20A>G c.416+20A>G (n.416+20A>G) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23560211T= | CA2290175654 | NPC1 | c.881+20A= (n.881+20A=) n.795+20A= c.112+20A= c.416+20A= (n.416+20A=) | |
18 | g.23560212G>T | CA2641271673 | NPC1 | c.881+19C>A (n.881+19C>A) n.795+19C>A c.112+19C>A c.416+19C>A (n.416+19C>A) | gnomAD v4 |
18 | g.23560213A>G | CA2641271676 | NPC1 | c.881+18T>C (n.881+18T>C) n.795+18T>C c.112+18T>C c.416+18T>C (n.416+18T>C) | gnomAD v4 |
18 | g.23560218_23560221del | CA2740093969 | NPC1 | c.881+15_881+18del (n.881+15_881+18del) n.795+15_795+18del c.112+15_112+18del c.416+15_416+18del (n.416+15_416+18del) | ClinVar |
18 | g.23560216A= | CA2290175655 | NPC1 | c.881+15T= (n.881+15T=) n.795+15T= c.112+15T= c.416+15T= (n.416+15T=) | |
18 | g.23560216A>G | CA297074548 | NPC1 | c.881+15T>C (n.881+15T>C) n.795+15T>C c.112+15T>C c.416+15T>C (n.416+15T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560221_23560222del | CA2641271683 | NPC1 | c.881+11_881+12del (n.881+11_881+12del) n.795+11_795+12del c.112+11_112+12del c.416+11_416+12del (n.416+11_416+12del) | gnomAD v4 |
18 | g.23560221A>C | CA2811805421 | NPC1 | c.881+10T>G (n.881+10T>G) n.795+10T>G c.112+10T>G c.416+10T>G (n.416+10T>G) | |
18 | g.23560221_23560227del | CA2580095621 | NPC1 | c.881+4_881+10del (n.881+4_881+10del) n.795+4_795+10del c.112+4_112+10del c.416+4_416+10del (n.416+4_416+10del) | ClinVar dbSNP |
18 | g.23560223_23560234delinsCTGCTTACCTGT | CA2290175656 | NPC1 | c.878_881+8delinsACAGGTAAGCAG n.792_795+8delinsACAGGTAAGCAG c.109_112+8delinsACAGGTAAGCAG c.413_416+8delinsACAGGTAAGCAG | |
18 | g.23560224T>C | CA2641271696 | NPC1 | c.881+7A>G (n.881+7A>G) n.795+7A>G c.112+7A>G c.416+7A>G (n.416+7A>G) | gnomAD v4 |
18 | g.23560224_23560234del | CA8913620 | NPC1 | c.878_881+7del n.792_795+7del c.109_112+7del c.413_416+7del | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23560225G>A | CA628978823 | NPC1 | c.881+6C>T (n.881+6C>T) n.795+6C>T c.112+6C>T c.416+6C>T (n.416+6C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560225G>C | CA2641271706 | NPC1 | c.881+6C>G (n.881+6C>G) n.795+6C>G c.112+6C>G c.416+6C>G (n.416+6C>G) | gnomAD v4 |
18 | g.23560225G= | CA2290175657 | NPC1 | c.881+6C= (n.881+6C=) n.795+6C= c.112+6C= c.416+6C= (n.416+6C=) | |
18 | g.23560226C>T | CA2641271709 | NPC1 | c.881+5G>A (n.881+5G>A) n.795+5G>A c.112+5G>A c.416+5G>A (n.416+5G>A) | gnomAD v4 |
18 | g.23560228T>C | CA2695227245 | NPC1 | c.881+3A>G (n.881+3A>G) n.795+3A>G c.112+3A>G c.416+3A>G (n.416+3A>G) | |
18 | g.23560229A>C | CA401780694 | NPC1 | c.881+2T>G (n.881+2T>G) n.795+2T>G c.112+2T>G c.416+2T>G (n.416+2T>G) | |
18 | g.23560229A>G | CA401780695 | NPC1 | c.881+2T>C (n.881+2T>C) n.795+2T>C c.112+2T>C c.416+2T>C (n.416+2T>C) | gnomAD v4 |
18 | g.23560229A>T | CA401780697 | NPC1 | c.881+2T>A (n.881+2T>A) n.795+2T>A c.112+2T>A c.416+2T>A (n.416+2T>A) | |
18 | g.23560230C>A | CA401780708 | NPC1 | c.881+1G>T (n.881+1G>T) n.795+1G>T c.112+1G>T c.416+1G>T (n.416+1G>T) | ClinVar dbSNP |
18 | g.23560230C= | CA2290175658 | NPC1 | c.881+1G= (n.881+1G=) n.795+1G= c.112+1G= c.416+1G= (n.416+1G=) | |
18 | g.23560230C>G | CA401780710 | NPC1 | c.881+1G>C (n.881+1G>C) n.795+1G>C c.112+1G>C c.416+1G>C (n.416+1G>C) | |
18 | g.23560230C>T | CA401780712 | NPC1 | c.881+1G>A (n.881+1G>A) n.795+1G>A c.112+1G>A c.416+1G>A (n.416+1G>A) | ClinVar gnomAD v4 |
18 | g.23560231C>A | CA401780715 | NPC1 | c.881G>T (p.Arg294Ile) n.795G>T c.112G>T c.416G>T (p.Arg139Ile) | |
18 | g.23560231C>G | CA401780717 | NPC1 | c.881G>C (p.Arg294Thr) n.795G>C c.112G>C c.416G>C (p.Arg139Thr) | |
18 | g.23560231C>T | CA401780720 | NPC1 | c.881G>A (p.Arg294Lys) n.795G>A c.112G>A c.416G>A (p.Arg139Lys) | |
18 | g.23560232T>A | CA401780721 | NPC1 | c.880A>T (p.Arg294Ter) n.794A>T c.111A>T c.415A>T (p.Arg139Ter) | |
18 | g.23560232T>C | CA401780723 | NPC1 | c.880A>G (p.Arg294Gly) n.794A>G c.111A>G c.415A>G (p.Arg139Gly) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23560232T>G | CA503521965 | NPC1 | c.880A>C (p.Arg294=) n.794A>C c.111A>C c.415A>C (p.Arg139=) | |
18 | g.23560232T= | CA2290175659 | NPC1 | c.880A= (p.Arg294=) n.794A= c.111A= c.415A= (p.Arg139=) | |
18 | g.23560233G>A | CA8913621 | NPC1 | c.879C>T (p.Tyr293=) n.793C>T c.110C>T c.414C>T (p.Tyr138=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23560233G>C | CA401780729 | NPC1 | c.879C>G (p.Tyr293Ter) n.793C>G c.110C>G c.414C>G (p.Tyr138Ter) | |
18 | g.23560233G= | CA2290175660 | NPC1 | c.879C= (p.Tyr293=) n.793C= c.110C= c.414C= (p.Tyr138=) | |
18 | g.23560233G>T | CA401780727 | NPC1 | c.879C>A (p.Tyr293Ter) n.793C>A c.110C>A c.414C>A (p.Tyr138Ter) | |
18 | g.23560234T>A | CA401780730 | NPC1 | c.878A>T (p.Tyr293Phe) n.792A>T c.109A>T c.413A>T (p.Tyr138Phe) | |
18 | g.23560234T>C | CA401780732 | NPC1 | c.878A>G (p.Tyr293Cys) n.792A>G c.109A>G c.413A>G (p.Tyr138Cys) | dbSNP gnomAD v4 |
18 | g.23560234T>G | CA401780734 | NPC1 | c.878A>C (p.Tyr293Ser) n.792A>C c.109A>C c.413A>C (p.Tyr138Ser) | |
18 | g.23560234T= | CA2290175661 | NPC1 | c.878A= (p.Tyr293=) n.792A= c.109A= c.413A= (p.Tyr138=) | |
18 | g.23560235A>C | CA401780737 | NPC1 | c.877T>G (p.Tyr293Asp) n.791T>G c.108T>G c.412T>G (p.Tyr138Asp) | |
18 | g.23560235A>G | CA401780740 | NPC1 | c.877T>C (p.Tyr293His) n.791T>C c.108T>C c.412T>C (p.Tyr138His) | |
18 | g.23560235A>T | CA401780742 | NPC1 | c.877T>A (p.Tyr293Asn) n.791T>A c.108T>A c.412T>A (p.Tyr138Asn) | |
18 | g.23560236G>A | CA503521969 | NPC1 | c.876C>T (p.Cys292=) n.790C>T c.107C>T c.411C>T (p.Cys137=) | |
18 | g.23560236G>C | CA401780748 | NPC1 | c.876C>G (p.Cys292Trp) n.790C>G c.107C>G c.411C>G (p.Cys137Trp) | |
18 | g.23560236G>T | CA401780746 | NPC1 | c.876C>A (p.Cys292Ter) n.790C>A c.107C>A c.411C>A (p.Cys137Ter) | |
18 | g.23560237C>A | CA401780751 | NPC1 | c.875G>T (p.Cys292Phe) n.789G>T c.106G>T c.410G>T (p.Cys137Phe) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23560237C= | CA2290175662 | NPC1 | c.875G= (p.Cys292=) n.789G= c.106G= c.410G= (p.Cys137=) | |
18 | g.23560237C>G | CA401780753 | NPC1 | c.875G>C (p.Cys292Ser) n.789G>C c.106G>C c.410G>C (p.Cys137Ser) | |
18 | g.23560237C>T | CA8913622 | NPC1 | c.875G>A (p.Cys292Tyr) n.789G>A c.106G>A c.410G>A (p.Cys137Tyr) | dbSNP ExAC gnomAD v2 |
18 | g.23560238A>C | CA401780755 | NPC1 | c.874T>G (p.Cys292Gly) n.788T>G c.105T>G c.409T>G (p.Cys137Gly) | |
18 | g.23560238A>G | CA401780757 | NPC1 | c.874T>C (p.Cys292Arg) n.788T>C c.105T>C c.409T>C (p.Cys137Arg) | |
18 | g.23560238A>T | CA401780759 | NPC1 | c.874T>A (p.Cys292Ser) n.788T>A c.105T>A c.409T>A (p.Cys137Ser) | |
18 | g.23560239C>A | CA8913623 | NPC1 | c.873G>T (p.Trp291Cys) n.787G>T c.104G>T c.408G>T (p.Trp136Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560239C= | CA2290175663 | NPC1 | c.873G= (p.Trp291=) n.787G= c.104G= c.408G= (p.Trp136=) | |
18 | g.23560239C>G | CA401780766 | NPC1 | c.873G>C (p.Trp291Cys) n.787G>C c.104G>C c.408G>C (p.Trp136Cys) | |
18 | g.23560239C>T | CA401780764 | NPC1 | c.873G>A (p.Trp291Ter) n.787G>A c.104G>A c.408G>A (p.Trp136Ter) | |
18 | g.23560240C>A | CA401780769 | NPC1 | c.872G>T (p.Trp291Leu) n.786G>T c.103G>T c.407G>T (p.Trp136Leu) | |
18 | g.23560240C= | CA2290175664 | NPC1 | c.872G= (p.Trp291=) n.786G= c.103G= c.407G= (p.Trp136=) | |
18 | g.23560240C>G | CA401780773 | NPC1 | c.872G>C (p.Trp291Ser) n.786G>C c.103G>C c.407G>C (p.Trp136Ser) | |
18 | g.23560240C>T | CA401780771 | NPC1 | c.872G>A (p.Trp291Ter) n.786G>A c.103G>A c.407G>A (p.Trp136Ter) | ClinVar dbSNP |
18 | g.23560243_23560244del | CA2641271737 | NPC1 | c.871_872del (p.Trp291ValfsTer16) n.785_786del c.102_103del c.406_407del (p.Trp136ValfsTer16) | gnomAD v4 |
18 | g.23560241A>C | CA401780776 | NPC1 | c.871T>G (p.Trp291Gly) n.785T>G c.102T>G c.406T>G (p.Trp136Gly) | |
18 | g.23560241A>G | CA401780778 | NPC1 | c.871T>C (p.Trp291Arg) n.785T>C c.102T>C c.406T>C (p.Trp136Arg) | |
18 | g.23560241A>T | CA401780779 | NPC1 | c.871T>A (p.Trp291Arg) n.785T>A c.102T>A c.406T>A (p.Trp136Arg) | |
18 | g.23560241dup | CA2641271739 | NPC1 | c.871dup (p.Trp291LeufsTer17) n.785dup c.102dup c.406dup (p.Trp136LeufsTer17) | gnomAD v4 |
18 | g.23560242C>A | CA503521977 | NPC1 | c.870G>T (p.Val290=) n.784G>T c.101G>T c.405G>T (p.Val135=) | |
18 | g.23560242C= | CA2290175665 | NPC1 | c.870G= (p.Val290=) n.784G= c.101G= c.405G= (p.Val135=) | |
18 | g.23560242C>G | CA503521979 | NPC1 | c.870G>C (p.Val290=) n.784G>C c.101G>C c.405G>C (p.Val135=) | |
18 | g.23560242C>T | CA8913624 | NPC1 | c.870G>A (p.Val290=) n.784G>A c.101G>A c.405G>A (p.Val135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560243A= | CA2290175666 | NPC1 | c.869T= (p.Val290=) n.783T= c.100T= c.404T= (p.Val135=) | |
18 | g.23560243A>C | CA401780782 | NPC1 | c.869T>G (p.Val290Gly) n.783T>G c.100T>G c.404T>G (p.Val135Gly) | |
18 | g.23560243A>G | CA8913625 | NPC1 | c.869T>C (p.Val290Ala) n.783T>C c.100T>C c.404T>C (p.Val135Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23560243A>T | CA401780786 | NPC1 | c.869T>A (p.Val290Glu) n.783T>A c.100T>A c.404T>A (p.Val135Glu) | |
18 | g.23560243_23560244insGGTAAA | CA2641271751 | NPC1 | c.869_870insTTACCT (p.Val290_Trp291insTyrLeu) n.783_784insTTACCT c.100_101insTTACCT c.404_405insTTACCT (p.Val135_Trp136insTyrLeu) | gnomAD v4 |
18 | g.23560244C>A | CA8913626 | NPC1 | c.868G>T (p.Val290Leu) n.782G>T c.99G>T c.403G>T (p.Val135Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23560244C= | CA2290175667 | NPC1 | c.868G= (p.Val290=) n.782G= c.99G= c.403G= (p.Val135=) | |
18 | g.23560244C>G | CA401780789 | NPC1 | c.868G>C (p.Val290Leu) n.782G>C c.99G>C c.403G>C (p.Val135Leu) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23560244C>T | CA401780792 | NPC1 | c.868G>A (p.Val290Met) n.782G>A c.99G>A c.403G>A (p.Val135Met) | gnomAD v4 |
18 | g.23560245T>A | CA503521981 | NPC1 | c.867A>T (p.Ala289=) n.781A>T c.98A>T c.402A>T (p.Ala134=) | |
18 | g.23560245T>C | CA503521983 | NPC1 | c.867A>G (p.Ala289=) n.781A>G c.98A>G c.402A>G (p.Ala134=) | gnomAD v4 |
18 | g.23560245T>G | CA503521982 | NPC1 | c.867A>C (p.Ala289=) n.781A>C c.98A>C c.402A>C (p.Ala134=) | |
18 | g.23560246G>A | CA401780795 | NPC1 | c.866C>T (p.Ala289Val) n.780C>T c.97C>T c.401C>T (p.Ala134Val) | gnomAD v4 |
18 | g.23560246G>C | CA401780798 | NPC1 | c.866C>G (p.Ala289Gly) n.780C>G c.97C>G c.401C>G (p.Ala134Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.23560246G= | CA2290175668 | NPC1 | c.866C= (p.Ala289=) n.780C= c.97C= c.401C= (p.Ala134=) | |
18 | g.23560246G>T | CA401780799 | NPC1 | c.866C>A (p.Ala289Glu) n.780C>A c.97C>A c.401C>A (p.Ala134Glu) | |
18 | g.23560247C>A | CA401780801 | NPC1 | c.865G>T (p.Ala289Ser) n.779G>T c.96G>T c.400G>T (p.Ala134Ser) | COSMIC |
18 | g.23560247C>G | CA401780806 | NPC1 | c.865G>C (p.Ala289Pro) n.779G>C c.96G>C c.400G>C (p.Ala134Pro) | |
18 | g.23560247C>T | CA401780804 | NPC1 | c.865G>A (p.Ala289Thr) n.779G>A c.96G>A c.400G>A (p.Ala134Thr) | gnomAD v4 |
18 | g.23560248A>C | CA401780808 | NPC1 | c.864T>G (p.Phe288Leu) n.778T>G c.95T>G c.399T>G (p.Phe133Leu) | |
18 | g.23560248A>G | CA503521985 | NPC1 | c.864T>C (p.Phe288=) n.778T>C c.95T>C c.399T>C (p.Phe133=) | |
18 | g.23560248A>T | CA401780811 | NPC1 | c.864T>A (p.Phe288Leu) n.778T>A c.95T>A c.399T>A (p.Phe133Leu) | |
18 | g.23560253dup | CA2734652823 | NPC1 | c.864dup (p.Ala289CysfsTer19) n.778dup c.95dup c.399dup (p.Ala134CysfsTer19) | dbSNP |
18 | g.23560253del | CA503521986 | NPC1 | c.864del (p.Phe288LeufsTer22) n.778del c.95del c.399del (p.Phe133LeufsTer22) | ClinVar COSMIC COSMIC |
18 | g.23560249A>C | CA401780814 | NPC1 | c.863T>G (p.Phe288Cys) n.777T>G c.94T>G c.398T>G (p.Phe133Cys) | |
18 | g.23560249A>G | CA401780817 | NPC1 | c.863T>C (p.Phe288Ser) n.777T>C c.94T>C c.398T>C (p.Phe133Ser) | |
18 | g.23560249A>T | CA401780818 | NPC1 | c.863T>A (p.Phe288Tyr) n.777T>A c.94T>A c.398T>A (p.Phe133Tyr) | |
18 | g.23560250A>C | CA401780821 | NPC1 | c.862T>G (p.Phe288Val) n.776T>G c.93T>G c.397T>G (p.Phe133Val) | |
18 | g.23560250A>G | CA401780823 | NPC1 | c.862T>C (p.Phe288Leu) n.776T>C c.93T>C c.397T>C (p.Phe133Leu) | |
18 | g.23560250A>T | CA401780825 | NPC1 | c.862T>A (p.Phe288Ile) n.776T>A c.93T>A c.397T>A (p.Phe133Ile) | |
18 | g.23560251A= | CA2290175669 | NPC1 | c.861T= (p.Phe287=) n.775T= c.92T= c.396T= (p.Phe132=) | |
18 | g.23560251A>C | CA401780828 | NPC1 | c.861T>G (p.Phe287Leu) n.775T>G c.92T>G c.396T>G (p.Phe132Leu) | dbSNP gnomAD v2 |
18 | g.23560251A>G | CA503521987 | NPC1 | c.861T>C (p.Phe287=) n.775T>C c.92T>C c.396T>C (p.Phe132=) | ClinVar |
18 | g.23560251A>T | CA401780833 | NPC1 | c.861T>A (p.Phe287Leu) n.775T>A c.92T>A c.396T>A (p.Phe132Leu) | |
18 | g.23560252A= | CA2290175670 | NPC1 | c.860T= (p.Phe287=) n.774T= c.91T= c.395T= (p.Phe132=) | |
18 | g.23560252A>C | CA401780844 | NPC1 | c.860T>G (p.Phe287Cys) n.774T>G c.91T>G c.395T>G (p.Phe132Cys) | |
18 | g.23560252A>G | CA401780842 | NPC1 | c.860T>C (p.Phe287Ser) n.774T>C c.91T>C c.395T>C (p.Phe132Ser) | dbSNP gnomAD v4 |
18 | g.23560252A>T | CA401780840 | NPC1 | c.860T>A (p.Phe287Tyr) n.774T>A c.91T>A c.395T>A (p.Phe132Tyr) | |
18 | g.23560253A= | CA2290175671 | NPC1 | c.859T= (p.Phe287=) n.773T= c.90T= c.394T= (p.Phe132=) | |
18 | g.23560253A>C | CA401780847 | NPC1 | c.859T>G (p.Phe287Val) n.773T>G c.90T>G c.394T>G (p.Phe132Val) | |
18 | g.23560253A>G | CA401780848 | NPC1 | c.859T>C (p.Phe287Leu) n.773T>C c.90T>C c.394T>C (p.Phe132Leu) | |
18 | g.23560253A>T | CA401780851 | NPC1 | c.859T>A (p.Phe287Ile) n.773T>A c.90T>A c.394T>A (p.Phe132Ile) | dbSNP |
18 | g.23560254T>A | CA503521990 | NPC1 | c.858A>T (p.Ala286=) n.772A>T c.89A>T c.393A>T (p.Ala131=) | |
18 | g.23560254T>C | CA503521989 | NPC1 | c.858A>G (p.Ala286=) n.772A>G c.89A>G c.393A>G (p.Ala131=) | dbSNP |
18 | g.23560254T>G | CA503521988 | NPC1 | c.858A>C (p.Ala286=) n.772A>C c.89A>C c.393A>C (p.Ala131=) | |
18 | g.23560254T= | CA2290175672 | NPC1 | c.858A= (p.Ala286=) n.772A= c.89A= c.393A= (p.Ala131=) | |
18 | g.23560255_23560257del | CA2641271797 | NPC1 | c.856_858del (p.Ala286del) n.770_772del c.87_89del c.391_393del (p.Ala131del) | gnomAD v4 |
18 | g.23560255G>A | CA401780855 | NPC1 | c.857C>T (p.Ala286Val) n.771C>T c.88C>T c.392C>T (p.Ala131Val) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23560255G>C | CA401780856 | NPC1 | c.857C>G (p.Ala286Gly) n.771C>G c.88C>G c.392C>G (p.Ala131Gly) | |
18 | g.23560255G= | CA2290175673 | NPC1 | c.857C= (p.Ala286=) n.771C= c.88C= c.392C= (p.Ala131=) | |
18 | g.23560255G>T | CA401780859 | NPC1 | c.857C>A (p.Ala286Glu) n.771C>A c.88C>A c.392C>A (p.Ala131Glu) | |
18 | g.23560256C>A | CA401780861 | NPC1 | c.856G>T (p.Ala286Ser) n.770G>T c.87G>T c.391G>T (p.Ala131Ser) | |
18 | g.23560256C>G | CA401780863 | NPC1 | c.856G>C (p.Ala286Pro) n.770G>C c.87G>C c.391G>C (p.Ala131Pro) | |
18 | g.23560256C>T | CA401780866 | NPC1 | c.856G>A (p.Ala286Thr) n.770G>A c.87G>A c.391G>A (p.Ala131Thr) | gnomAD v4 COSMIC |
18 | g.23560257T>A | CA503521991 | NPC1 | c.855A>T (p.Gly285=) n.769A>T c.86A>T c.390A>T (p.Gly130=) | |
18 | g.23560257T>C | CA503521992 | NPC1 | c.855A>G (p.Gly285=) n.769A>G c.86A>G c.390A>G (p.Gly130=) | |
18 | g.23560257T>G | CA503521993 | NPC1 | c.855A>C (p.Gly285=) n.769A>C c.86A>C c.390A>C (p.Gly130=) | |
18 | g.23560258C>A | CA401780868 | NPC1 | c.854G>T (p.Gly285Val) n.768G>T c.85G>T c.389G>T (p.Gly130Val) | |
18 | g.23560258C>G | CA401780870 | NPC1 | c.854G>C (p.Gly285Ala) n.768G>C c.85G>C c.389G>C (p.Gly130Ala) | |
18 | g.23560258C>T | CA401780873 | NPC1 | c.854G>A (p.Gly285Glu) n.768G>A c.85G>A c.389G>A (p.Gly130Glu) | |
18 | g.23560259dup | CA913014979 | NPC1 | c.854dup (p.Ala286SerfsTer22) n.768dup c.85dup c.389dup (p.Ala131SerfsTer22) | |
18 | g.23560258_23560259insA | CA297074582 | NPC1 | c.853_854insT (p.Gly285ValfsTer23) n.767_768insT c.84_85insT c.388_389insT (p.Gly130ValfsTer23) | |
18 | g.23560259C>A | CA401780881 | NPC1 | c.853G>T (p.Gly285Ter) n.767G>T c.84G>T c.388G>T (p.Gly130Ter) | |
18 | g.23560259C= | CA2290175675 | NPC1 | c.853G= (p.Gly285=) n.767G= c.84G= c.388G= (p.Gly130=) | |
18 | g.23560259C>G | CA401780876 | NPC1 | c.853G>C (p.Gly285Arg) n.767G>C c.84G>C c.388G>C (p.Gly130Arg) | |
18 | g.23560259C>T | CA401780879 | NPC1 | c.853G>A (p.Gly285Arg) n.767G>A c.84G>A c.388G>A (p.Gly130Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23560259_23560260delinsCA | CA2290175674 | NPC1 | c.852_853delinsTG (p.Phe284=) n.766_767delinsTG c.83_84delinsTG c.387_388delinsTG (p.Phe129=) | |
18 | g.23560260A>C | CA401780889 | NPC1 | c.852T>G (p.Phe284Leu) n.766T>G c.83T>G c.387T>G (p.Phe129Leu) | |
18 | g.23560260A>G | CA503521994 | NPC1 | c.852T>C (p.Phe284=) n.766T>C c.83T>C c.387T>C (p.Phe129=) | ClinVar dbSNP |
18 | g.23560260A>T | CA401780891 | NPC1 | c.852T>A (p.Phe284Leu) n.766T>A c.83T>A c.387T>A (p.Phe129Leu) | |
18 | g.23560265dup | CA8913627 | NPC1 | c.852dup (p.Gly285TrpfsTer23) n.766dup c.83dup c.387dup (p.Gly130TrpfsTer23) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23560265del | CA16041920 | NPC1 | c.852del (p.Phe284LeufsTer26) n.766del c.83del c.387del (p.Phe129LeufsTer26) | ClinVar dbSNP gnomAD v4 |
18 | g.23560261A>C | CA401780895 | NPC1 | c.851T>G (p.Phe284Cys) n.765T>G c.82T>G c.386T>G (p.Phe129Cys) | |
18 | g.23560261A>G | CA401780898 | NPC1 | c.851T>C (p.Phe284Ser) n.765T>C c.82T>C c.386T>C (p.Phe129Ser) | |
18 | g.23560261A>T | CA401780901 | NPC1 | c.851T>A (p.Phe284Tyr) n.765T>A c.82T>A c.386T>A (p.Phe129Tyr) | |
18 | g.23560262A>C | CA401780904 | NPC1 | c.850T>G (p.Phe284Val) n.764T>G c.81T>G c.385T>G (p.Phe129Val) | |
18 | g.23560262A>G | CA401780907 | NPC1 | c.850T>C (p.Phe284Leu) n.764T>C c.81T>C c.385T>C (p.Phe129Leu) | |
18 | g.23560262A>T | CA401780909 | NPC1 | c.850T>A (p.Phe284Ile) n.764T>A c.81T>A c.385T>A (p.Phe129Ile) | |
18 | g.23560263A>C | CA401780912 | NPC1 | c.849T>G (p.Phe283Leu) n.763T>G c.80T>G c.384T>G (p.Phe128Leu) | |
18 | g.23560263A>G | CA503521995 | NPC1 | c.849T>C (p.Phe283=) n.763T>C c.80T>C c.384T>C (p.Phe128=) | |
18 | g.23560263A>T | CA401780914 | NPC1 | c.849T>A (p.Phe283Leu) n.763T>A c.80T>A c.384T>A (p.Phe128Leu) | |
18 | g.23560263_23560264insCC | CA2695227247 | NPC1 | c.848_849insGG (p.Phe283LeufsTer28) n.762_763insGG c.79_80insGG c.383_384insGG (p.Phe128LeufsTer28) | |
18 | g.23560264A>C | CA401780917 | NPC1 | c.848T>G (p.Phe283Cys) n.762T>G c.79T>G c.383T>G (p.Phe128Cys) | |
18 | g.23560264A>G | CA401780922 | NPC1 | c.848T>C (p.Phe283Ser) n.762T>C c.79T>C c.383T>C (p.Phe128Ser) | |
18 | g.23560264A>T | CA401780920 | NPC1 | c.848T>A (p.Phe283Tyr) n.762T>A c.79T>A c.383T>A (p.Phe128Tyr) | |
18 | g.23560265A>C | CA401780926 | NPC1 | c.847T>G (p.Phe283Val) n.761T>G c.78T>G c.382T>G (p.Phe128Val) | gnomAD v4 |
18 | g.23560265A>G | CA401780930 | NPC1 | c.847T>C (p.Phe283Leu) n.761T>C c.78T>C c.382T>C (p.Phe128Leu) | gnomAD v4 |
18 | g.23560265A>T | CA401780927 | NPC1 | c.847T>A (p.Phe283Ile) n.761T>A c.78T>A c.382T>A (p.Phe128Ile) | |
18 | g.23560268_23560269del | CA2580612675 | NPC1 | c.846_847del (p.Phe284TrpfsTer23) n.760_761del c.77_78del c.381_382del (p.Phe129TrpfsTer23) | ClinVar gnomAD v4 |
18 | g.23560266C>A | CA503521997 | NPC1 | c.846G>T (p.Val282=) n.760G>T c.77G>T c.381G>T (p.Val127=) | gnomAD v4 |
18 | g.23560266C>G | CA503521998 | NPC1 | c.846G>C (p.Val282=) n.760G>C c.77G>C c.381G>C (p.Val127=) | |
18 | g.23560266C>T | CA503521999 | NPC1 | c.846G>A (p.Val282=) n.760G>A c.77G>A c.381G>A (p.Val127=) | ClinVar |
18 | g.23560267del | CA2573051021 | NPC1 | c.845del (p.Val282GlyfsTer28) n.759del c.76del c.380del (p.Val127GlyfsTer28) | |
18 | g.23560267A>C | CA401780933 | NPC1 | c.845T>G (p.Val282Gly) n.759T>G c.76T>G c.380T>G (p.Val127Gly) | |
18 | g.23560267A>G | CA401780938 | NPC1 | c.845T>C (p.Val282Ala) n.759T>C c.76T>C c.380T>C (p.Val127Ala) | |
18 | g.23560267A>T | CA401780935 | NPC1 | c.845T>A (p.Val282Glu) n.759T>A c.76T>A c.380T>A (p.Val127Glu) | |
18 | g.23560268C>A | CA401780940 | NPC1 | c.844G>T (p.Val282Leu) n.758G>T c.75G>T c.379G>T (p.Val127Leu) | |
18 | g.23560268C>G | CA401780942 | NPC1 | c.844G>C (p.Val282Leu) n.758G>C c.75G>C c.379G>C (p.Val127Leu) | |
18 | g.23560268C>T | CA401780944 | NPC1 | c.844G>A (p.Val282Met) n.758G>A c.75G>A c.379G>A (p.Val127Met) | |
18 | g.23560269A>C | CA503522003 | NPC1 | c.843T>G (p.Leu281=) n.757T>G c.74T>G c.378T>G (p.Leu126=) | gnomAD v4 |
18 | g.23560269A>G | CA503522002 | NPC1 | c.843T>C (p.Leu281=) n.757T>C c.74T>C c.378T>C (p.Leu126=) | |
18 | g.23560269A>T | CA503522001 | NPC1 | c.843T>A (p.Leu281=) n.757T>A c.74T>A c.378T>A (p.Leu126=) | |
18 | g.23560270A= | CA2290175676 | NPC1 | c.842T= (p.Leu281=) n.756T= c.73T= c.377T= (p.Leu126=) | |
18 | g.23560270A>C | CA401780947 | NPC1 | c.842T>G (p.Leu281Arg) n.756T>G c.73T>G c.377T>G (p.Leu126Arg) | |
18 | g.23560270A>G | CA8913628 | NPC1 | c.842T>C (p.Leu281Pro) n.756T>C c.73T>C c.377T>C (p.Leu126Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23560270A>T | CA401780951 | NPC1 | c.842T>A (p.Leu281His) n.756T>A c.73T>A c.377T>A (p.Leu126His) |