Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23560189_23560196delCA2641271650NPC1c.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
18g.23560193delCA2641271653NPC1c.881+41del (n.881+41del)
n.795+41del
c.112+41del
c.416+41del (n.416+41del)
 gnomAD v4
18g.23560193T>CCA2641271654NPC1c.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
18g.23560194G>CCA8913615NPC1c.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
18g.23560194G=CA2290175645NPC1c.881+37C= (n.881+37C=)
n.795+37C=
c.112+37C=
c.416+37C= (n.416+37C=)
18g.23560194G>TCA8913616NPC1c.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
18g.23560194_23560196delinsGCTCA2290175646NPC1c.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)
18g.23560195C>TCA2641271660NPC1c.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
18g.23560197_23560198delCA628978819NPC1c.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
18g.23560198T>ACA2840551469NPC1c.881+33A>T (n.881+33A>T)
n.795+33A>T
c.112+33A>T
c.416+33A>T (n.416+33A>T)
18g.23560202delCA2641271662NPC1c.881+33del (n.881+33del)
n.795+33del
c.112+33del
c.416+33del (n.416+33del)
 gnomAD v4
18g.23560199T>GCA8913617NPC1c.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
18g.23560199T=CA2290175647NPC1c.881+32A= (n.881+32A=)
n.795+32A=
c.112+32A=
c.416+32A= (n.416+32A=)
18g.23560200T>ACA8913618NPC1c.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
18g.23560200T=CA2290175648NPC1c.881+31A= (n.881+31A=)
n.795+31A=
c.112+31A=
c.416+31A= (n.416+31A=)
18g.23560201T>CCA297074539NPC1c.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
18g.23560201T=CA2290175649NPC1c.881+30A= (n.881+30A=)
n.795+30A=
c.112+30A=
c.416+30A= (n.416+30A=)
18g.23560202T>CCA2641271665NPC1c.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
18g.23560202_23560203insACA2811805419NPC1c.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)
18g.23560203G>ACA8913619NPC1c.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
18g.23560203G=CA2290175650NPC1c.881+28C= (n.881+28C=)
n.795+28C=
c.112+28C=
c.416+28C= (n.416+28C=)
18g.23560204C>TCA2641271668NPC1c.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
18g.23560206dupCA2840551470NPC1c.881+27dup (n.881+27dup)
n.795+27dup
c.112+27dup
c.416+27dup (n.416+27dup)
18g.23560206delCA2839103493NPC1c.881+27del (n.881+27del)
n.795+27del
c.112+27del
c.416+27del (n.416+27del)
18g.23560205C>ACA2840055144NPC1c.881+26G>T (n.881+26G>T)
n.795+26G>T
c.112+26G>T
c.416+26G>T (n.416+26G>T)
18g.23560205C=CA2290175651NPC1c.881+26G= (n.881+26G=)
n.795+26G=
c.112+26G=
c.416+26G= (n.416+26G=)
18g.23560205C>TCA628978820NPC1c.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
18g.23560206C>ACA2838522010NPC1c.881+25G>T (n.881+25G>T)
n.795+25G>T
c.112+25G>T
c.416+25G>T (n.416+25G>T)
18g.23560206C>GCA2641271670NPC1c.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
18g.23560207T>GCA297074543NPC1c.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
18g.23560207T=CA2290175652NPC1c.881+24A= (n.881+24A=)
n.795+24A=
c.112+24A=
c.416+24A= (n.416+24A=)
18g.23560209G=CA2290175653NPC1c.881+22C= (n.881+22C=)
n.795+22C=
c.112+22C=
c.416+22C= (n.416+22C=)
18g.23560209G>TCA988393792NPC1c.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
18g.23560211_23560213delCA2641271672NPC1c.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
18g.23560211T>CCA628978822NPC1c.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
18g.23560211T=CA2290175654NPC1c.881+20A= (n.881+20A=)
n.795+20A=
c.112+20A=
c.416+20A= (n.416+20A=)
18g.23560212G>TCA2641271673NPC1c.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
18g.23560213A>GCA2641271676NPC1c.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
18g.23560218_23560221delCA2740093969NPC1c.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
18g.23560216A=CA2290175655NPC1c.881+15T= (n.881+15T=)
n.795+15T=
c.112+15T=
c.416+15T= (n.416+15T=)
18g.23560216A>GCA297074548NPC1c.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
18g.23560221_23560222delCA2641271683NPC1c.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
18g.23560221A>CCA2811805421NPC1c.881+10T>G (n.881+10T>G)
n.795+10T>G
c.112+10T>G
c.416+10T>G (n.416+10T>G)
18g.23560221_23560227delCA2580095621NPC1c.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
18g.23560223_23560234delinsCTGCTTACCTGTCA2290175656NPC1c.878_881+8delinsACAGGTAAGCAG
n.792_795+8delinsACAGGTAAGCAG
c.109_112+8delinsACAGGTAAGCAG
c.413_416+8delinsACAGGTAAGCAG
18g.23560224T>CCA2641271696NPC1c.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
18g.23560224_23560234delCA8913620NPC1c.878_881+7del
n.792_795+7del
c.109_112+7del
c.413_416+7del
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23560225G>ACA628978823NPC1c.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
18g.23560225G>CCA2641271706NPC1c.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
18g.23560225G=CA2290175657NPC1c.881+6C= (n.881+6C=)
n.795+6C=
c.112+6C=
c.416+6C= (n.416+6C=)
18g.23560226C>TCA2641271709NPC1c.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
18g.23560228T>CCA2695227245NPC1c.881+3A>G (n.881+3A>G)
n.795+3A>G
c.112+3A>G
c.416+3A>G (n.416+3A>G)
18g.23560229A>CCA401780694NPC1c.881+2T>G (n.881+2T>G)
n.795+2T>G
c.112+2T>G
c.416+2T>G (n.416+2T>G)
18g.23560229A>GCA401780695NPC1c.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
18g.23560229A>TCA401780697NPC1c.881+2T>A (n.881+2T>A)
n.795+2T>A
c.112+2T>A
c.416+2T>A (n.416+2T>A)
18g.23560230C>ACA401780708NPC1c.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
18g.23560230C=CA2290175658NPC1c.881+1G= (n.881+1G=)
n.795+1G=
c.112+1G=
c.416+1G= (n.416+1G=)
18g.23560230C>GCA401780710NPC1c.881+1G>C (n.881+1G>C)
n.795+1G>C
c.112+1G>C
c.416+1G>C (n.416+1G>C)
18g.23560230C>TCA401780712NPC1c.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
18g.23560231C>ACA401780715NPC1c.881G>T (p.Arg294Ile)
n.795G>T
c.112G>T
c.416G>T (p.Arg139Ile)
18g.23560231C>GCA401780717NPC1c.881G>C (p.Arg294Thr)
n.795G>C
c.112G>C
c.416G>C (p.Arg139Thr)
18g.23560231C>TCA401780720NPC1c.881G>A (p.Arg294Lys)
n.795G>A
c.112G>A
c.416G>A (p.Arg139Lys)
18g.23560232T>ACA401780721NPC1c.880A>T (p.Arg294Ter)
n.794A>T
c.111A>T
c.415A>T (p.Arg139Ter)
18g.23560232T>CCA401780723NPC1c.880A>G (p.Arg294Gly)
n.794A>G
c.111A>G
c.415A>G (p.Arg139Gly)
 dbSNP gnomAD v3 gnomAD v4
18g.23560232T>GCA503521965NPC1c.880A>C (p.Arg294=)
n.794A>C
c.111A>C
c.415A>C (p.Arg139=)
18g.23560232T=CA2290175659NPC1c.880A= (p.Arg294=)
n.794A=
c.111A=
c.415A= (p.Arg139=)
18g.23560233G>ACA8913621NPC1c.879C>T (p.Tyr293=)
n.793C>T
c.110C>T
c.414C>T (p.Tyr138=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23560233G>CCA401780729NPC1c.879C>G (p.Tyr293Ter)
n.793C>G
c.110C>G
c.414C>G (p.Tyr138Ter)
18g.23560233G=CA2290175660NPC1c.879C= (p.Tyr293=)
n.793C=
c.110C=
c.414C= (p.Tyr138=)
18g.23560233G>TCA401780727NPC1c.879C>A (p.Tyr293Ter)
n.793C>A
c.110C>A
c.414C>A (p.Tyr138Ter)
18g.23560234T>ACA401780730NPC1c.878A>T (p.Tyr293Phe)
n.792A>T
c.109A>T
c.413A>T (p.Tyr138Phe)
18g.23560234T>CCA401780732NPC1c.878A>G (p.Tyr293Cys)
n.792A>G
c.109A>G
c.413A>G (p.Tyr138Cys)
 dbSNP gnomAD v4
18g.23560234T>GCA401780734NPC1c.878A>C (p.Tyr293Ser)
n.792A>C
c.109A>C
c.413A>C (p.Tyr138Ser)
18g.23560234T=CA2290175661NPC1c.878A= (p.Tyr293=)
n.792A=
c.109A=
c.413A= (p.Tyr138=)
18g.23560235A>CCA401780737NPC1c.877T>G (p.Tyr293Asp)
n.791T>G
c.108T>G
c.412T>G (p.Tyr138Asp)
18g.23560235A>GCA401780740NPC1c.877T>C (p.Tyr293His)
n.791T>C
c.108T>C
c.412T>C (p.Tyr138His)
18g.23560235A>TCA401780742NPC1c.877T>A (p.Tyr293Asn)
n.791T>A
c.108T>A
c.412T>A (p.Tyr138Asn)
18g.23560236G>ACA503521969NPC1c.876C>T (p.Cys292=)
n.790C>T
c.107C>T
c.411C>T (p.Cys137=)
18g.23560236G>CCA401780748NPC1c.876C>G (p.Cys292Trp)
n.790C>G
c.107C>G
c.411C>G (p.Cys137Trp)
18g.23560236G>TCA401780746NPC1c.876C>A (p.Cys292Ter)
n.790C>A
c.107C>A
c.411C>A (p.Cys137Ter)
18g.23560237C>ACA401780751NPC1c.875G>T (p.Cys292Phe)
n.789G>T
c.106G>T
c.410G>T (p.Cys137Phe)
 dbSNP gnomAD v2 gnomAD v4
18g.23560237C=CA2290175662NPC1c.875G= (p.Cys292=)
n.789G=
c.106G=
c.410G= (p.Cys137=)
18g.23560237C>GCA401780753NPC1c.875G>C (p.Cys292Ser)
n.789G>C
c.106G>C
c.410G>C (p.Cys137Ser)
18g.23560237C>TCA8913622NPC1c.875G>A (p.Cys292Tyr)
n.789G>A
c.106G>A
c.410G>A (p.Cys137Tyr)
 dbSNP ExAC gnomAD v2
18g.23560238A>CCA401780755NPC1c.874T>G (p.Cys292Gly)
n.788T>G
c.105T>G
c.409T>G (p.Cys137Gly)
18g.23560238A>GCA401780757NPC1c.874T>C (p.Cys292Arg)
n.788T>C
c.105T>C
c.409T>C (p.Cys137Arg)
18g.23560238A>TCA401780759NPC1c.874T>A (p.Cys292Ser)
n.788T>A
c.105T>A
c.409T>A (p.Cys137Ser)
18g.23560239C>ACA8913623NPC1c.873G>T (p.Trp291Cys)
n.787G>T
c.104G>T
c.408G>T (p.Trp136Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23560239C=CA2290175663NPC1c.873G= (p.Trp291=)
n.787G=
c.104G=
c.408G= (p.Trp136=)
18g.23560239C>GCA401780766NPC1c.873G>C (p.Trp291Cys)
n.787G>C
c.104G>C
c.408G>C (p.Trp136Cys)
18g.23560239C>TCA401780764NPC1c.873G>A (p.Trp291Ter)
n.787G>A
c.104G>A
c.408G>A (p.Trp136Ter)
18g.23560240C>ACA401780769NPC1c.872G>T (p.Trp291Leu)
n.786G>T
c.103G>T
c.407G>T (p.Trp136Leu)
18g.23560240C=CA2290175664NPC1c.872G= (p.Trp291=)
n.786G=
c.103G=
c.407G= (p.Trp136=)
18g.23560240C>GCA401780773NPC1c.872G>C (p.Trp291Ser)
n.786G>C
c.103G>C
c.407G>C (p.Trp136Ser)
18g.23560240C>TCA401780771NPC1c.872G>A (p.Trp291Ter)
n.786G>A
c.103G>A
c.407G>A (p.Trp136Ter)
 ClinVar dbSNP
18g.23560243_23560244delCA2641271737NPC1c.871_872del (p.Trp291ValfsTer16)
n.785_786del
c.102_103del
c.406_407del (p.Trp136ValfsTer16)
 gnomAD v4
18g.23560241A>CCA401780776NPC1c.871T>G (p.Trp291Gly)
n.785T>G
c.102T>G
c.406T>G (p.Trp136Gly)
18g.23560241A>GCA401780778NPC1c.871T>C (p.Trp291Arg)
n.785T>C
c.102T>C
c.406T>C (p.Trp136Arg)
18g.23560241A>TCA401780779NPC1c.871T>A (p.Trp291Arg)
n.785T>A
c.102T>A
c.406T>A (p.Trp136Arg)
18g.23560241dupCA2641271739NPC1c.871dup (p.Trp291LeufsTer17)
n.785dup
c.102dup
c.406dup (p.Trp136LeufsTer17)
 gnomAD v4
18g.23560242C>ACA503521977NPC1c.870G>T (p.Val290=)
n.784G>T
c.101G>T
c.405G>T (p.Val135=)
18g.23560242C=CA2290175665NPC1c.870G= (p.Val290=)
n.784G=
c.101G=
c.405G= (p.Val135=)
18g.23560242C>GCA503521979NPC1c.870G>C (p.Val290=)
n.784G>C
c.101G>C
c.405G>C (p.Val135=)
18g.23560242C>TCA8913624NPC1c.870G>A (p.Val290=)
n.784G>A
c.101G>A
c.405G>A (p.Val135=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23560243A=CA2290175666NPC1c.869T= (p.Val290=)
n.783T=
c.100T=
c.404T= (p.Val135=)
18g.23560243A>CCA401780782NPC1c.869T>G (p.Val290Gly)
n.783T>G
c.100T>G
c.404T>G (p.Val135Gly)
18g.23560243A>GCA8913625NPC1c.869T>C (p.Val290Ala)
n.783T>C
c.100T>C
c.404T>C (p.Val135Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23560243A>TCA401780786NPC1c.869T>A (p.Val290Glu)
n.783T>A
c.100T>A
c.404T>A (p.Val135Glu)
18g.23560243_23560244insGGTAAACA2641271751NPC1c.869_870insTTACCT (p.Val290_Trp291insTyrLeu)
n.783_784insTTACCT
c.100_101insTTACCT
c.404_405insTTACCT (p.Val135_Trp136insTyrLeu)
 gnomAD v4
18g.23560244C>ACA8913626NPC1c.868G>T (p.Val290Leu)
n.782G>T
c.99G>T
c.403G>T (p.Val135Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23560244C=CA2290175667NPC1c.868G= (p.Val290=)
n.782G=
c.99G=
c.403G= (p.Val135=)
18g.23560244C>GCA401780789NPC1c.868G>C (p.Val290Leu)
n.782G>C
c.99G>C
c.403G>C (p.Val135Leu)
 dbSNP gnomAD v3 gnomAD v4
18g.23560244C>TCA401780792NPC1c.868G>A (p.Val290Met)
n.782G>A
c.99G>A
c.403G>A (p.Val135Met)
 gnomAD v4
18g.23560245T>ACA503521981NPC1c.867A>T (p.Ala289=)
n.781A>T
c.98A>T
c.402A>T (p.Ala134=)
18g.23560245T>CCA503521983NPC1c.867A>G (p.Ala289=)
n.781A>G
c.98A>G
c.402A>G (p.Ala134=)
 gnomAD v4
18g.23560245T>GCA503521982NPC1c.867A>C (p.Ala289=)
n.781A>C
c.98A>C
c.402A>C (p.Ala134=)
18g.23560246G>ACA401780795NPC1c.866C>T (p.Ala289Val)
n.780C>T
c.97C>T
c.401C>T (p.Ala134Val)
 gnomAD v4
18g.23560246G>CCA401780798NPC1c.866C>G (p.Ala289Gly)
n.780C>G
c.97C>G
c.401C>G (p.Ala134Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23560246G=CA2290175668NPC1c.866C= (p.Ala289=)
n.780C=
c.97C=
c.401C= (p.Ala134=)
18g.23560246G>TCA401780799NPC1c.866C>A (p.Ala289Glu)
n.780C>A
c.97C>A
c.401C>A (p.Ala134Glu)
18g.23560247C>ACA401780801NPC1c.865G>T (p.Ala289Ser)
n.779G>T
c.96G>T
c.400G>T (p.Ala134Ser)
 COSMIC
18g.23560247C>GCA401780806NPC1c.865G>C (p.Ala289Pro)
n.779G>C
c.96G>C
c.400G>C (p.Ala134Pro)
18g.23560247C>TCA401780804NPC1c.865G>A (p.Ala289Thr)
n.779G>A
c.96G>A
c.400G>A (p.Ala134Thr)
 gnomAD v4
18g.23560248A>CCA401780808NPC1c.864T>G (p.Phe288Leu)
n.778T>G
c.95T>G
c.399T>G (p.Phe133Leu)
18g.23560248A>GCA503521985NPC1c.864T>C (p.Phe288=)
n.778T>C
c.95T>C
c.399T>C (p.Phe133=)
18g.23560248A>TCA401780811NPC1c.864T>A (p.Phe288Leu)
n.778T>A
c.95T>A
c.399T>A (p.Phe133Leu)
18g.23560253dupCA2734652823NPC1c.864dup (p.Ala289CysfsTer19)
n.778dup
c.95dup
c.399dup (p.Ala134CysfsTer19)
 dbSNP
18g.23560253delCA503521986NPC1c.864del (p.Phe288LeufsTer22)
n.778del
c.95del
c.399del (p.Phe133LeufsTer22)
 ClinVar COSMIC COSMIC
18g.23560249A>CCA401780814NPC1c.863T>G (p.Phe288Cys)
n.777T>G
c.94T>G
c.398T>G (p.Phe133Cys)
18g.23560249A>GCA401780817NPC1c.863T>C (p.Phe288Ser)
n.777T>C
c.94T>C
c.398T>C (p.Phe133Ser)
18g.23560249A>TCA401780818NPC1c.863T>A (p.Phe288Tyr)
n.777T>A
c.94T>A
c.398T>A (p.Phe133Tyr)
18g.23560250A>CCA401780821NPC1c.862T>G (p.Phe288Val)
n.776T>G
c.93T>G
c.397T>G (p.Phe133Val)
18g.23560250A>GCA401780823NPC1c.862T>C (p.Phe288Leu)
n.776T>C
c.93T>C
c.397T>C (p.Phe133Leu)
18g.23560250A>TCA401780825NPC1c.862T>A (p.Phe288Ile)
n.776T>A
c.93T>A
c.397T>A (p.Phe133Ile)
18g.23560251A=CA2290175669NPC1c.861T= (p.Phe287=)
n.775T=
c.92T=
c.396T= (p.Phe132=)
18g.23560251A>CCA401780828NPC1c.861T>G (p.Phe287Leu)
n.775T>G
c.92T>G
c.396T>G (p.Phe132Leu)
 dbSNP gnomAD v2
18g.23560251A>GCA503521987NPC1c.861T>C (p.Phe287=)
n.775T>C
c.92T>C
c.396T>C (p.Phe132=)
 ClinVar
18g.23560251A>TCA401780833NPC1c.861T>A (p.Phe287Leu)
n.775T>A
c.92T>A
c.396T>A (p.Phe132Leu)
18g.23560252A=CA2290175670NPC1c.860T= (p.Phe287=)
n.774T=
c.91T=
c.395T= (p.Phe132=)
18g.23560252A>CCA401780844NPC1c.860T>G (p.Phe287Cys)
n.774T>G
c.91T>G
c.395T>G (p.Phe132Cys)
18g.23560252A>GCA401780842NPC1c.860T>C (p.Phe287Ser)
n.774T>C
c.91T>C
c.395T>C (p.Phe132Ser)
 dbSNP gnomAD v4
18g.23560252A>TCA401780840NPC1c.860T>A (p.Phe287Tyr)
n.774T>A
c.91T>A
c.395T>A (p.Phe132Tyr)
18g.23560253A=CA2290175671NPC1c.859T= (p.Phe287=)
n.773T=
c.90T=
c.394T= (p.Phe132=)
18g.23560253A>CCA401780847NPC1c.859T>G (p.Phe287Val)
n.773T>G
c.90T>G
c.394T>G (p.Phe132Val)
18g.23560253A>GCA401780848NPC1c.859T>C (p.Phe287Leu)
n.773T>C
c.90T>C
c.394T>C (p.Phe132Leu)
18g.23560253A>TCA401780851NPC1c.859T>A (p.Phe287Ile)
n.773T>A
c.90T>A
c.394T>A (p.Phe132Ile)
 dbSNP
18g.23560254T>ACA503521990NPC1c.858A>T (p.Ala286=)
n.772A>T
c.89A>T
c.393A>T (p.Ala131=)
18g.23560254T>CCA503521989NPC1c.858A>G (p.Ala286=)
n.772A>G
c.89A>G
c.393A>G (p.Ala131=)
 dbSNP
18g.23560254T>GCA503521988NPC1c.858A>C (p.Ala286=)
n.772A>C
c.89A>C
c.393A>C (p.Ala131=)
18g.23560254T=CA2290175672NPC1c.858A= (p.Ala286=)
n.772A=
c.89A=
c.393A= (p.Ala131=)
18g.23560255_23560257delCA2641271797NPC1c.856_858del (p.Ala286del)
n.770_772del
c.87_89del
c.391_393del (p.Ala131del)
 gnomAD v4
18g.23560255G>ACA401780855NPC1c.857C>T (p.Ala286Val)
n.771C>T
c.88C>T
c.392C>T (p.Ala131Val)
 dbSNP gnomAD v3 gnomAD v4
18g.23560255G>CCA401780856NPC1c.857C>G (p.Ala286Gly)
n.771C>G
c.88C>G
c.392C>G (p.Ala131Gly)
18g.23560255G=CA2290175673NPC1c.857C= (p.Ala286=)
n.771C=
c.88C=
c.392C= (p.Ala131=)
18g.23560255G>TCA401780859NPC1c.857C>A (p.Ala286Glu)
n.771C>A
c.88C>A
c.392C>A (p.Ala131Glu)
18g.23560256C>ACA401780861NPC1c.856G>T (p.Ala286Ser)
n.770G>T
c.87G>T
c.391G>T (p.Ala131Ser)
18g.23560256C>GCA401780863NPC1c.856G>C (p.Ala286Pro)
n.770G>C
c.87G>C
c.391G>C (p.Ala131Pro)
18g.23560256C>TCA401780866NPC1c.856G>A (p.Ala286Thr)
n.770G>A
c.87G>A
c.391G>A (p.Ala131Thr)
 gnomAD v4 COSMIC
18g.23560257T>ACA503521991NPC1c.855A>T (p.Gly285=)
n.769A>T
c.86A>T
c.390A>T (p.Gly130=)
18g.23560257T>CCA503521992NPC1c.855A>G (p.Gly285=)
n.769A>G
c.86A>G
c.390A>G (p.Gly130=)
18g.23560257T>GCA503521993NPC1c.855A>C (p.Gly285=)
n.769A>C
c.86A>C
c.390A>C (p.Gly130=)
18g.23560258C>ACA401780868NPC1c.854G>T (p.Gly285Val)
n.768G>T
c.85G>T
c.389G>T (p.Gly130Val)
18g.23560258C>GCA401780870NPC1c.854G>C (p.Gly285Ala)
n.768G>C
c.85G>C
c.389G>C (p.Gly130Ala)
18g.23560258C>TCA401780873NPC1c.854G>A (p.Gly285Glu)
n.768G>A
c.85G>A
c.389G>A (p.Gly130Glu)
18g.23560259dupCA913014979NPC1c.854dup (p.Ala286SerfsTer22)
n.768dup
c.85dup
c.389dup (p.Ala131SerfsTer22)
18g.23560258_23560259insACA297074582NPC1c.853_854insT (p.Gly285ValfsTer23)
n.767_768insT
c.84_85insT
c.388_389insT (p.Gly130ValfsTer23)
18g.23560259C>ACA401780881NPC1c.853G>T (p.Gly285Ter)
n.767G>T
c.84G>T
c.388G>T (p.Gly130Ter)
18g.23560259C=CA2290175675NPC1c.853G= (p.Gly285=)
n.767G=
c.84G=
c.388G= (p.Gly130=)
18g.23560259C>GCA401780876NPC1c.853G>C (p.Gly285Arg)
n.767G>C
c.84G>C
c.388G>C (p.Gly130Arg)
18g.23560259C>TCA401780879NPC1c.853G>A (p.Gly285Arg)
n.767G>A
c.84G>A
c.388G>A (p.Gly130Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.23560259_23560260delinsCACA2290175674NPC1c.852_853delinsTG (p.Phe284=)
n.766_767delinsTG
c.83_84delinsTG
c.387_388delinsTG (p.Phe129=)
18g.23560260A>CCA401780889NPC1c.852T>G (p.Phe284Leu)
n.766T>G
c.83T>G
c.387T>G (p.Phe129Leu)
18g.23560260A>GCA503521994NPC1c.852T>C (p.Phe284=)
n.766T>C
c.83T>C
c.387T>C (p.Phe129=)
 ClinVar dbSNP
18g.23560260A>TCA401780891NPC1c.852T>A (p.Phe284Leu)
n.766T>A
c.83T>A
c.387T>A (p.Phe129Leu)
18g.23560265dupCA8913627NPC1c.852dup (p.Gly285TrpfsTer23)
n.766dup
c.83dup
c.387dup (p.Gly130TrpfsTer23)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23560265delCA16041920NPC1c.852del (p.Phe284LeufsTer26)
n.766del
c.83del
c.387del (p.Phe129LeufsTer26)
 ClinVar dbSNP gnomAD v4
18g.23560261A>CCA401780895NPC1c.851T>G (p.Phe284Cys)
n.765T>G
c.82T>G
c.386T>G (p.Phe129Cys)
18g.23560261A>GCA401780898NPC1c.851T>C (p.Phe284Ser)
n.765T>C
c.82T>C
c.386T>C (p.Phe129Ser)
18g.23560261A>TCA401780901NPC1c.851T>A (p.Phe284Tyr)
n.765T>A
c.82T>A
c.386T>A (p.Phe129Tyr)
18g.23560262A>CCA401780904NPC1c.850T>G (p.Phe284Val)
n.764T>G
c.81T>G
c.385T>G (p.Phe129Val)
18g.23560262A>GCA401780907NPC1c.850T>C (p.Phe284Leu)
n.764T>C
c.81T>C
c.385T>C (p.Phe129Leu)
18g.23560262A>TCA401780909NPC1c.850T>A (p.Phe284Ile)
n.764T>A
c.81T>A
c.385T>A (p.Phe129Ile)
18g.23560263A>CCA401780912NPC1c.849T>G (p.Phe283Leu)
n.763T>G
c.80T>G
c.384T>G (p.Phe128Leu)
18g.23560263A>GCA503521995NPC1c.849T>C (p.Phe283=)
n.763T>C
c.80T>C
c.384T>C (p.Phe128=)
18g.23560263A>TCA401780914NPC1c.849T>A (p.Phe283Leu)
n.763T>A
c.80T>A
c.384T>A (p.Phe128Leu)
18g.23560263_23560264insCCCA2695227247NPC1c.848_849insGG (p.Phe283LeufsTer28)
n.762_763insGG
c.79_80insGG
c.383_384insGG (p.Phe128LeufsTer28)
18g.23560264A>CCA401780917NPC1c.848T>G (p.Phe283Cys)
n.762T>G
c.79T>G
c.383T>G (p.Phe128Cys)
18g.23560264A>GCA401780922NPC1c.848T>C (p.Phe283Ser)
n.762T>C
c.79T>C
c.383T>C (p.Phe128Ser)
18g.23560264A>TCA401780920NPC1c.848T>A (p.Phe283Tyr)
n.762T>A
c.79T>A
c.383T>A (p.Phe128Tyr)
18g.23560265A>CCA401780926NPC1c.847T>G (p.Phe283Val)
n.761T>G
c.78T>G
c.382T>G (p.Phe128Val)
 gnomAD v4
18g.23560265A>GCA401780930NPC1c.847T>C (p.Phe283Leu)
n.761T>C
c.78T>C
c.382T>C (p.Phe128Leu)
 gnomAD v4
18g.23560265A>TCA401780927NPC1c.847T>A (p.Phe283Ile)
n.761T>A
c.78T>A
c.382T>A (p.Phe128Ile)
18g.23560268_23560269delCA2580612675NPC1c.846_847del (p.Phe284TrpfsTer23)
n.760_761del
c.77_78del
c.381_382del (p.Phe129TrpfsTer23)
 ClinVar gnomAD v4
18g.23560266C>ACA503521997NPC1c.846G>T (p.Val282=)
n.760G>T
c.77G>T
c.381G>T (p.Val127=)
 gnomAD v4
18g.23560266C>GCA503521998NPC1c.846G>C (p.Val282=)
n.760G>C
c.77G>C
c.381G>C (p.Val127=)
18g.23560266C>TCA503521999NPC1c.846G>A (p.Val282=)
n.760G>A
c.77G>A
c.381G>A (p.Val127=)
 ClinVar
18g.23560267delCA2573051021NPC1c.845del (p.Val282GlyfsTer28)
n.759del
c.76del
c.380del (p.Val127GlyfsTer28)
18g.23560267A>CCA401780933NPC1c.845T>G (p.Val282Gly)
n.759T>G
c.76T>G
c.380T>G (p.Val127Gly)
18g.23560267A>GCA401780938NPC1c.845T>C (p.Val282Ala)
n.759T>C
c.76T>C
c.380T>C (p.Val127Ala)
18g.23560267A>TCA401780935NPC1c.845T>A (p.Val282Glu)
n.759T>A
c.76T>A
c.380T>A (p.Val127Glu)
18g.23560268C>ACA401780940NPC1c.844G>T (p.Val282Leu)
n.758G>T
c.75G>T
c.379G>T (p.Val127Leu)
18g.23560268C>GCA401780942NPC1c.844G>C (p.Val282Leu)
n.758G>C
c.75G>C
c.379G>C (p.Val127Leu)
18g.23560268C>TCA401780944NPC1c.844G>A (p.Val282Met)
n.758G>A
c.75G>A
c.379G>A (p.Val127Met)
18g.23560269A>CCA503522003NPC1c.843T>G (p.Leu281=)
n.757T>G
c.74T>G
c.378T>G (p.Leu126=)
 gnomAD v4
18g.23560269A>GCA503522002NPC1c.843T>C (p.Leu281=)
n.757T>C
c.74T>C
c.378T>C (p.Leu126=)
18g.23560269A>TCA503522001NPC1c.843T>A (p.Leu281=)
n.757T>A
c.74T>A
c.378T>A (p.Leu126=)
18g.23560270A=CA2290175676NPC1c.842T= (p.Leu281=)
n.756T=
c.73T=
c.377T= (p.Leu126=)
18g.23560270A>CCA401780947NPC1c.842T>G (p.Leu281Arg)
n.756T>G
c.73T>G
c.377T>G (p.Leu126Arg)
18g.23560270A>GCA8913628NPC1c.842T>C (p.Leu281Pro)
n.756T>C
c.73T>C
c.377T>C (p.Leu126Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23560270A>TCA401780951NPC1c.842T>A (p.Leu281His)
n.756T>A
c.73T>A
c.377T>A (p.Leu126His)
18g.23560271G>ACA8913629NPC1c.841C>T (p.Leu281Phe)
n.755C>T
c.72C>T
c.376C>T (p.Leu126Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23560271G>CCA401780954NPC1c.841C>G (p.Leu281Val)
n.755C>G
c.72C>G
c.376C>G (p.Leu126Val)
 dbSNP
18g.23560271G=CA2290175677NPC1c.841C= (p.Leu281=)
n.755C=
c.72C=
c.376C= (p.Leu126=)
18g.23560271G>TCA401780957NPC1c.841C>A (p.Leu281Ile)
n.755C>A
c.72C>A
c.376C>A (p.Leu126Ile)
18g.23560272C>ACA401780960NPC1c.840G>T (p.Leu280Phe)
n.754G>T
c.71G>T
c.375G>T (p.Leu125Phe)
18g.23560272C>GCA401780963NPC1c.840G>C (p.Leu280Phe)
n.754G>C
c.71G>C
c.375G>C (p.Leu125Phe)
18g.23560272C>TCA503522007NPC1c.840G>A (p.Leu280=)
n.754G>A
c.71G>A
c.375G>A (p.Leu125=)
18g.23560272_23560273delinsCACA2290175678NPC1c.839_840delinsTG (p.Leu280=)
n.753_754delinsTG
c.70_71delinsTG
c.374_375delinsTG (p.Leu125=)
18g.23560273A>CCA401780973NPC1c.839T>G (p.Leu280Trp)
n.753T>G
c.70T>G
c.374T>G (p.Leu125Trp)
18g.23560273A>GCA401780967NPC1c.839T>C (p.Leu280Ser)
n.753T>C
c.70T>C
c.374T>C (p.Leu125Ser)
18g.23560273A>TCA401780970NPC1c.839T>A (p.Leu280Ter)
n.753T>A
c.70T>A
c.374T>A (p.Leu125Ter)
18g.23560277dupCA2838476404NPC1c.839dup (p.Leu280PhefsTer28)
n.753dup
c.70dup
c.374dup (p.Leu125PhefsTer28)
18g.23560277delCA16043698NPC1c.839del (p.Leu280CysfsTer30)
n.753del
c.70del
c.374del (p.Leu125CysfsTer30)
 ClinVar dbSNP
18g.23560274A>CCA401780976NPC1c.838T>G (p.Leu280Val)
n.752T>G
c.69T>G
c.373T>G (p.Leu125Val)
18g.23560274A>GCA503522009NPC1c.838T>C (p.Leu280=)
n.752T>C
c.69T>C
c.373T>C (p.Leu125=)
18g.23560274A>TCA401780978NPC1c.838T>A (p.Leu280Met)
n.752T>A
c.69T>A
c.373T>A (p.Leu125Met)
18g.23560275A=CA2290175679NPC1c.837T= (p.Phe279=)
n.751T=
c.68T=
c.372T= (p.Phe124=)
18g.23560275A>CCA401780981NPC1c.837T>G (p.Phe279Leu)
n.751T>G
c.68T>G
c.372T>G (p.Phe124Leu)
18g.23560275A>GCA503522010NPC1c.837T>C (p.Phe279=)
n.751T>C
c.68T>C
c.372T>C (p.Phe124=)
 dbSNP gnomAD v3 gnomAD v4
18g.23560275A>TCA401780983NPC1c.837T>A (p.Phe279Leu)
n.751T>A
c.68T>A
c.372T>A (p.Phe124Leu)
18g.23560276A>CCA401780986NPC1c.836T>G (p.Phe279Cys)
n.750T>G
c.67T>G
c.371T>G (p.Phe124Cys)
18g.23560276A>GCA401780988NPC1c.836T>C (p.Phe279Ser)
n.750T>C
c.67T>C
c.371T>C (p.Phe124Ser)
18g.23560276A>TCA401780989NPC1c.836T>A (p.Phe279Tyr)
n.750T>A
c.67T>A
c.371T>A (p.Phe124Tyr)
18g.23560277A>CCA401780992NPC1c.835T>G (p.Phe279Val)
n.749T>G
c.66T>G
c.370T>G (p.Phe124Val)
18g.23560277A>GCA401780994NPC1c.835T>C (p.Phe279Leu)
n.749T>C
c.66T>C
c.370T>C (p.Phe124Leu)
18g.23560277A>TCA401780996NPC1c.835T>A (p.Phe279Ile)
n.749T>A
c.66T>A
c.370T>A (p.Phe124Ile)
18g.23560278C>ACA503522049NPC1c.834G>T (p.Ala278=)
n.748G>T
c.65G>T
c.369G>T (p.Ala123=)
18g.23560278C=CA2290175680NPC1c.834G= (p.Ala278=)
n.748G=
c.65G=
c.369G= (p.Ala123=)
18g.23560278C>GCA503522051NPC1c.834G>C (p.Ala278=)
n.748G>C
c.65G>C
c.369G>C (p.Ala123=)
18g.23560278C>TCA8913630NPC1c.834G>A (p.Ala278=)
n.748G>A
c.65G>A
c.369G>A (p.Ala123=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23560279G>ACA8913631NPC1c.833C>T (p.Ala278Val)
n.747C>T
c.64C>T
c.368C>T (p.Ala123Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23560279G>CCA401781002NPC1c.833C>G (p.Ala278Gly)
n.747C>G
c.64C>G
c.368C>G (p.Ala123Gly)
18g.23560279G=CA2290175681NPC1c.833C= (p.Ala278=)
n.747C=
c.64C=
c.368C= (p.Ala123=)
18g.23560279G>TCA8913632NPC1c.833C>A (p.Ala278Glu)
n.747C>A
c.64C>A
c.368C>A (p.Ala123Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23560280C>ACA401781011NPC1c.832G>T (p.Ala278Ser)
n.746G>T
c.63G>T
c.367G>T (p.Ala123Ser)
18g.23560280C>GCA401781013NPC1c.832G>C (p.Ala278Pro)
n.746G>C
c.63G>C
c.367G>C (p.Ala123Pro)
18g.23560280C>TCA401781015NPC1c.832G>A (p.Ala278Thr)
n.746G>A
c.63G>A
c.367G>A (p.Ala123Thr)
 gnomAD v4
18g.23560281dupCA297074601NPC1c.832dup (p.Ala278GlyfsTer30)
n.746dup
c.63dup
c.367dup (p.Ala123GlyfsTer30)
 dbSNP
18g.23560281C>ACA401781017NPC1c.831G>T (p.Met277Ile)
n.745G>T
c.62G>T
c.366G>T (p.Met122Ile)
18g.23560281C>GCA401781020NPC1c.831G>C (p.Met277Ile)
n.745G>C
c.62G>C
c.366G>C (p.Met122Ile)
 gnomAD v4
18g.23560281C>TCA401781022NPC1c.831G>A (p.Met277Ile)
n.745G>A
c.62G>A
c.366G>A (p.Met122Ile)
18g.23560282delCA2641271867NPC1c.830del (p.Met277ArgfsTer?)
n.744del
c.61del
c.365del (p.Met122ArgfsTer?)
 gnomAD v4
18g.23560282A>CCA401781025NPC1c.830T>G (p.Met277Arg)
n.744T>G
c.61T>G
c.365T>G (p.Met122Arg)
18g.23560282A>GCA401781026NPC1c.830T>C (p.Met277Thr)
n.744T>C
c.61T>C
c.365T>C (p.Met122Thr)
18g.23560282A>TCA401781028NPC1c.830T>A (p.Met277Lys)
n.744T>A
c.61T>A
c.365T>A (p.Met122Lys)
18g.23560283T>ACA401781034NPC1c.829A>T (p.Met277Leu)
n.743A>T
c.60A>T
c.364A>T (p.Met122Leu)
18g.23560283T>CCA8913633NPC1c.829A>G (p.Met277Val)
n.743A>G
c.60A>G
c.364A>G (p.Met122Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23560283T>GCA401781032NPC1c.829A>C (p.Met277Leu)
n.743A>C
c.60A>C
c.364A>C (p.Met122Leu)
 gnomAD v4
18g.23560283T=CA2290175682NPC1c.829A= (p.Met277=)
n.743A=
c.60A=
c.364A= (p.Met122=)
18g.23560284G>ACA503522057NPC1c.828C>T (p.Tyr276=)
n.742C>T
c.59C>T
c.363C>T (p.Tyr121=)
 ClinVar dbSNP COSMIC COSMIC
18g.23560284G>CCA401781036NPC1c.828C>G (p.Tyr276Ter)
n.742C>G
c.59C>G
c.363C>G (p.Tyr121Ter)
18g.23560284G>TCA401781039NPC1c.828C>A (p.Tyr276Ter)
n.742C>A
c.59C>A
c.363C>A (p.Tyr121Ter)
18g.23560285T>ACA401781042NPC1c.827A>T (p.Tyr276Phe)
n.741A>T
c.58A>T
c.362A>T (p.Tyr121Phe)
18g.23560285T>CCA401781044NPC1c.827A>G (p.Tyr276Cys)
n.741A>G
c.58A>G
c.362A>G (p.Tyr121Cys)
18g.23560285T>GCA401781045NPC1c.827A>C (p.Tyr276Ser)
n.741A>C
c.58A>C
c.362A>C (p.Tyr121Ser)
18g.23560286A>CCA401781046NPC1c.826T>G (p.Tyr276Asp)
n.740T>G
c.57T>G
c.361T>G (p.Tyr121Asp)
18g.23560286A>GCA401781047NPC1c.826T>C (p.Tyr276His)
n.740T>C
c.57T>C
c.361T>C (p.Tyr121His)
18g.23560286A>TCA401781048NPC1c.826T>A (p.Tyr276Asn)
n.740T>A
c.57T>A
c.361T>A (p.Tyr121Asn)
18g.23560286_23560287delinsAGCA2290175683NPC1c.825_826delinsCT (p.Thr275=)
n.739_740delinsCT
c.56_57delinsCT
c.360_361delinsCT (p.Thr120=)
18g.23560287G>ACA503522061NPC1c.825C>T (p.Thr275=)
n.739C>T
c.56C>T
c.360C>T (p.Thr120=)
 ClinVar dbSNP gnomAD v4
18g.23560287G>CCA503522062NPC1c.825C>G (p.Thr275=)
n.739C>G
c.56C>G
c.360C>G (p.Thr120=)
 dbSNP gnomAD v2 gnomAD v4
18g.23560287G=CA2290175684NPC1c.825C= (p.Thr275=)
n.739C=
c.56C=
c.360C= (p.Thr120=)
18g.23560287G>TCA503522063NPC1c.825C>A (p.Thr275=)
n.739C>A
c.56C>A
c.360C>A (p.Thr120=)
18g.23560288delCA8913634NPC1c.825del (p.Tyr276ThrfsTer?)
n.739del
c.56del
c.360del (p.Tyr121ThrfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23560288G>ACA401781049NPC1c.824C>T (p.Thr275Ile)
n.738C>T
c.55C>T
c.359C>T (p.Thr120Ile)
18g.23560288G>CCA401781050NPC1c.824C>G (p.Thr275Ser)
n.738C>G
c.55C>G
c.359C>G (p.Thr120Ser)
18g.23560288G>TCA401781051NPC1c.824C>A (p.Thr275Asn)
n.738C>A
c.55C>A
c.359C>A (p.Thr120Asn)
18g.23560289T>ACA401781053NPC1c.823A>T (p.Thr275Ser)
n.737A>T
c.54A>T
c.358A>T (p.Thr120Ser)
18g.23560289T>CCA401781054NPC1c.823A>G (p.Thr275Ala)
n.737A>G
c.54A>G
c.358A>G (p.Thr120Ala)
18g.23560289T>GCA401781052NPC1c.823A>C (p.Thr275Pro)
n.737A>C
c.54A>C
c.358A>C (p.Thr120Pro)
18g.23560293_23560301delCA2641271893NPC1c.815_823del (p.Met272_Ile274del)
n.729_737del
c.46_54del
c.350_358del (p.Met117_Ile119del)
 gnomAD v4
18g.23560290G>ACA503522068NPC1c.822C>T (p.Ile274=)
n.736C>T
c.53C>T
c.357C>T (p.Ile119=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23560290G>CCA401781055NPC1c.822C>G (p.Ile274Met)
n.736C>G
c.53C>G
c.357C>G (p.Ile119Met)
18g.23560290G=CA2290175685NPC1c.822C= (p.Ile274=)
n.736C=
c.53C=
c.357C= (p.Ile119=)
18g.23560290G>TCA503522067NPC1c.822C>A (p.Ile274=)
n.736C>A
c.53C>A
c.357C>A (p.Ile119=)
18g.23560291A>CCA401781056NPC1c.821T>G (p.Ile274Ser)
n.735T>G
c.52T>G
c.356T>G (p.Ile119Ser)
18g.23560291A>GCA401781057NPC1c.821T>C (p.Ile274Thr)
n.735T>C
c.52T>C
c.356T>C (p.Ile119Thr)
 gnomAD v4
18g.23560291A>TCA401781058NPC1c.821T>A (p.Ile274Asn)
n.735T>A
c.52T>A
c.356T>A (p.Ile119Asn)
18g.23560292T>ACA401781059NPC1c.820A>T (p.Ile274Phe)
n.734A>T
c.51A>T
c.355A>T (p.Ile119Phe)
18g.23560292T>CCA401781060NPC1c.820A>G (p.Ile274Val)
n.734A>G
c.51A>G
c.355A>G (p.Ile119Val)
18g.23560292T>GCA401781061NPC1c.820A>C (p.Ile274Leu)
n.734A>C
c.51A>C
c.355A>C (p.Ile119Leu)

Number of alleles fetched