Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23538509_23538510delinsTGCA2290165315NPC1c.3041+32_3041+33delinsCA (n.3041+32_3041+33delinsCA)
c.2119+32_2119+33delinsCA
n.674+32_674+33delinsCA
n.384+32_384+33delinsCA
c.3092+32_3092+33delinsCA (n.3092+32_3092+33delinsCA)
c.2627+32_2627+33delinsCA (n.2627+32_2627+33delinsCA)
18g.23538510G>ACA2290165316NPC1c.3041+32C>T (n.3041+32C>T)
c.2119+32C>T
n.674+32C>T
n.384+32C>T
c.3092+32C>T (n.3092+32C>T)
c.2627+32C>T (n.2627+32C>T)
 dbSNP gnomAD v4
18g.23538510G>CCA2641271413NPC1c.3041+32C>G (n.3041+32C>G)
c.2119+32C>G
n.674+32C>G
n.384+32C>G
c.3092+32C>G (n.3092+32C>G)
c.2627+32C>G (n.2627+32C>G)
 gnomAD v4
18g.23538510G=CA2290165317NPC1c.3041+32C= (n.3041+32C=)
c.2119+32C=
n.674+32C=
n.384+32C=
c.3092+32C= (n.3092+32C=)
c.2627+32C= (n.2627+32C=)
18g.23538510G>TCA2500979785NPC1c.3041+32C>A (n.3041+32C>A)
c.2119+32C>A
n.674+32C>A
n.384+32C>A
c.3092+32C>A (n.3092+32C>A)
c.2627+32C>A (n.2627+32C>A)
18g.23538511delCA2290165318NPC1c.3041+32del (n.3041+32del)
c.2119+32del
n.674+32del
n.384+32del
c.3092+32del (n.3092+32del)
c.2627+32del (n.2627+32del)
 dbSNP
18g.23538511G>ACA2590728659NPC1c.3041+31C>T (n.3041+31C>T)
c.2119+31C>T
n.674+31C>T
n.384+31C>T
c.3092+31C>T (n.3092+31C>T)
c.2627+31C>T (n.2627+31C>T)
 dbSNP gnomAD v3 gnomAD v4
18g.23538512A>CCA2641271419NPC1c.3041+30T>G (n.3041+30T>G)
c.2119+30T>G
n.674+30T>G
n.384+30T>G
c.3092+30T>G (n.3092+30T>G)
c.2627+30T>G (n.2627+30T>G)
 gnomAD v4
18g.23538512A>TCA2641271420NPC1c.3041+30T>A (n.3041+30T>A)
c.2119+30T>A
n.674+30T>A
n.384+30T>A
c.3092+30T>A (n.3092+30T>A)
c.2627+30T>A (n.2627+30T>A)
 gnomAD v4
18g.23538514G>ACA8912880NPC1c.3041+28C>T (n.3041+28C>T)
c.2119+28C>T
n.674+28C>T
n.384+28C>T
c.3092+28C>T (n.3092+28C>T)
c.2627+28C>T (n.2627+28C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538514G=CA2290165319NPC1c.3041+28C= (n.3041+28C=)
c.2119+28C=
n.674+28C=
n.384+28C=
c.3092+28C= (n.3092+28C=)
c.2627+28C= (n.2627+28C=)
18g.23538518A>GCA2641271424NPC1c.3041+24T>C (n.3041+24T>C)
c.2119+24T>C
n.674+24T>C
n.384+24T>C
c.3092+24T>C (n.3092+24T>C)
c.2627+24T>C (n.2627+24T>C)
 gnomAD v4
18g.23538519T>CCA2734657615NPC1c.3041+23A>G (n.3041+23A>G)
c.2119+23A>G
n.674+23A>G
n.384+23A>G
c.3092+23A>G (n.3092+23A>G)
c.2627+23A>G (n.2627+23A>G)
 dbSNP
18g.23538520C=CA2290165320NPC1c.3041+22G= (n.3041+22G=)
c.2119+22G=
n.674+22G=
n.384+22G=
c.3092+22G= (n.3092+22G=)
c.2627+22G= (n.2627+22G=)
18g.23538520C>TCA8912881NPC1c.3041+22G>A (n.3041+22G>A)
c.2119+22G>A
n.674+22G>A
n.384+22G>A
c.3092+22G>A (n.3092+22G>A)
c.2627+22G>A (n.2627+22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538522G=CA2290165321NPC1c.3041+20C= (n.3041+20C=)
c.2119+20C=
n.674+20C=
n.384+20C=
c.3092+20C= (n.3092+20C=)
c.2627+20C= (n.2627+20C=)
18g.23538522G>TCA628677774NPC1c.3041+20C>A (n.3041+20C>A)
c.2119+20C>A
n.674+20C>A
n.384+20C>A
c.3092+20C>A (n.3092+20C>A)
c.2627+20C>A (n.2627+20C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23538523C=CA2290165322NPC1c.3041+19G= (n.3041+19G=)
c.2119+19G=
n.674+19G=
n.384+19G=
c.3092+19G= (n.3092+19G=)
c.2627+19G= (n.2627+19G=)
18g.23538523C>TCA2290165323NPC1c.3041+19G>A (n.3041+19G>A)
c.2119+19G>A
n.674+19G>A
n.384+19G>A
c.3092+19G>A (n.3092+19G>A)
c.2627+19G>A (n.2627+19G>A)
 dbSNP
18g.23538525A=CA2290165324NPC1c.3041+17T= (n.3041+17T=)
c.2119+17T=
n.674+17T=
n.384+17T=
c.3092+17T= (n.3092+17T=)
c.2627+17T= (n.2627+17T=)
18g.23538525A>GCA8912882NPC1c.3041+17T>C (n.3041+17T>C)
c.2119+17T>C
n.674+17T>C
n.384+17T>C
c.3092+17T>C (n.3092+17T>C)
c.2627+17T>C (n.2627+17T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538526T>ACA8912883NPC1c.3041+16A>T (n.3041+16A>T)
c.2119+16A>T
n.674+16A>T
n.384+16A>T
c.3092+16A>T (n.3092+16A>T)
c.2627+16A>T (n.2627+16A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538526T>CCA8912884NPC1c.3041+16A>G (n.3041+16A>G)
c.2119+16A>G
n.674+16A>G
n.384+16A>G
c.3092+16A>G (n.3092+16A>G)
c.2627+16A>G (n.2627+16A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538526T=CA2290165325NPC1c.3041+16A= (n.3041+16A=)
c.2119+16A=
n.674+16A=
n.384+16A=
c.3092+16A= (n.3092+16A=)
c.2627+16A= (n.2627+16A=)
18g.23538528G>ACA777718436NPC1c.3041+14C>T (n.3041+14C>T)
c.2119+14C>T
n.674+14C>T
n.384+14C>T
c.3092+14C>T (n.3092+14C>T)
c.2627+14C>T (n.2627+14C>T)
 dbSNP gnomAD v4
18g.23538528G=CA2290165326NPC1c.3041+14C= (n.3041+14C=)
c.2119+14C=
n.674+14C=
n.384+14C=
c.3092+14C= (n.3092+14C=)
c.2627+14C= (n.2627+14C=)
18g.23538529C>ACA2734657617NPC1c.3041+13G>T (n.3041+13G>T)
c.2119+13G>T
n.674+13G>T
n.384+13G>T
c.3092+13G>T (n.3092+13G>T)
c.2627+13G>T (n.2627+13G>T)
 dbSNP
18g.23538530A>GCA2839424376NPC1c.3041+12T>C (n.3041+12T>C)
c.2119+12T>C
n.674+12T>C
n.384+12T>C
c.3092+12T>C (n.3092+12T>C)
c.2627+12T>C (n.2627+12T>C)
18g.23538530_23538531delinsAGCA2290165327NPC1c.3041+11_3041+12delinsCT (n.3041+11_3041+12delinsCT)
c.2119+11_2119+12delinsCT
n.674+11_674+12delinsCT
n.384+11_384+12delinsCT
c.3092+11_3092+12delinsCT (n.3092+11_3092+12delinsCT)
c.2627+11_2627+12delinsCT (n.2627+11_2627+12delinsCT)
18g.23538531delCA8912885NPC1c.3041+11del (n.3041+11del)
c.2119+11del
n.674+11del
n.384+11del
c.3092+11del (n.3092+11del)
c.2627+11del (n.2627+11del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538531G>ACA2531014075NPC1c.3041+11C>T (n.3041+11C>T)
c.2119+11C>T
n.674+11C>T
n.384+11C>T
c.3092+11C>T (n.3092+11C>T)
c.2627+11C>T (n.2627+11C>T)
 ClinVar
18g.23538532C=CA2290165328NPC1c.3041+10G= (n.3041+10G=)
c.2119+10G=
n.674+10G=
n.384+10G=
c.3092+10G= (n.3092+10G=)
c.2627+10G= (n.2627+10G=)
18g.23538532C>TCA297080637NPC1c.3041+10G>A (n.3041+10G>A)
c.2119+10G>A
n.674+10G>A
n.384+10G>A
c.3092+10G>A (n.3092+10G>A)
c.2627+10G>A (n.2627+10G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23538533A=CA2290165329NPC1c.3041+9T= (n.3041+9T=)
c.2119+9T=
n.674+9T=
n.384+9T=
c.3092+9T= (n.3092+9T=)
c.2627+9T= (n.2627+9T=)
18g.23538533A>GCA2290165330NPC1c.3041+9T>C (n.3041+9T>C)
c.2119+9T>C
n.674+9T>C
n.384+9T>C
c.3092+9T>C (n.3092+9T>C)
c.2627+9T>C (n.2627+9T>C)
 dbSNP
18g.23538534delCA2740093979NPC1c.3041+8del (n.3041+8del)
c.2119+8del
n.674+8del
n.384+8del
c.3092+8del (n.3092+8del)
c.2627+8del (n.2627+8del)
 ClinVar
18g.23538534G>ACA988381882NPC1c.3041+8C>T (n.3041+8C>T)
c.2119+8C>T
n.674+8C>T
n.384+8C>T
c.3092+8C>T (n.3092+8C>T)
c.2627+8C>T (n.2627+8C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23538534G>CCA8912886NPC1c.3041+8C>G (n.3041+8C>G)
c.2119+8C>G
n.674+8C>G
n.384+8C>G
c.3092+8C>G (n.3092+8C>G)
c.2627+8C>G (n.2627+8C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538534G=CA2290165331NPC1c.3041+8C= (n.3041+8C=)
c.2119+8C=
n.674+8C=
n.384+8C=
c.3092+8C= (n.3092+8C=)
c.2627+8C= (n.2627+8C=)
18g.23538535C=CA2290165332NPC1c.3041+7G= (n.3041+7G=)
c.2119+7G=
n.674+7G=
n.384+7G=
c.3092+7G= (n.3092+7G=)
c.2627+7G= (n.2627+7G=)
18g.23538535C>GCA8912887NPC1c.3041+7G>C (n.3041+7G>C)
c.2119+7G>C
n.674+7G>C
n.384+7G>C
c.3092+7G>C (n.3092+7G>C)
c.2627+7G>C (n.2627+7G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538536A=CA2290165333NPC1c.3041+6T= (n.3041+6T=)
c.2119+6T=
n.674+6T=
n.384+6T=
c.3092+6T= (n.3092+6T=)
c.2627+6T= (n.2627+6T=)
18g.23538536A>CCA8912888NPC1c.3041+6T>G (n.3041+6T>G)
c.2119+6T>G
n.674+6T>G
n.384+6T>G
c.3092+6T>G (n.3092+6T>G)
c.2627+6T>G (n.2627+6T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538537C>TCA2695227433NPC1c.3041+5G>A (n.3041+5G>A)
c.2119+5G>A
n.674+5G>A
n.384+5G>A
c.3092+5G>A (n.3092+5G>A)
c.2627+5G>A (n.2627+5G>A)
18g.23538538T>CCA2641271449NPC1c.3041+4A>G (n.3041+4A>G)
c.2119+4A>G
n.674+4A>G
n.384+4A>G
c.3092+4A>G (n.3092+4A>G)
c.2627+4A>G (n.2627+4A>G)
 gnomAD v4
18g.23538539T>CCA8912889NPC1c.3041+3A>G (n.3041+3A>G)
c.2119+3A>G
n.674+3A>G
n.384+3A>G
c.3092+3A>G (n.3092+3A>G)
c.2627+3A>G (n.2627+3A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538539T=CA2290165335NPC1c.3041+3A= (n.3041+3A=)
c.2119+3A=
n.674+3A=
n.384+3A=
c.3092+3A= (n.3092+3A=)
c.2627+3A= (n.2627+3A=)
18g.23538539_23538540delinsTACA2290165334NPC1c.3041+2_3041+3delinsTA (n.3041+2_3041+3delinsTA)
c.2119+2_2119+3delinsTA
n.674+2_674+3delinsTA
n.384+2_384+3delinsTA
c.3092+2_3092+3delinsTA (n.3092+2_3092+3delinsTA)
c.2627+2_2627+3delinsTA (n.2627+2_2627+3delinsTA)
18g.23538540delCA1139665977NPC1c.3041+2del (n.3041+2del)
c.2119+2del
n.674+2del
n.384+2del
c.3092+2del (n.3092+2del)
c.2627+2del (n.2627+2del)
 ClinVar dbSNP gnomAD v4
18g.23538540A>CCA401792065NPC1c.3041+2T>G (n.3041+2T>G)
c.2119+2T>G
n.674+2T>G
n.384+2T>G
c.3092+2T>G (n.3092+2T>G)
c.2627+2T>G (n.2627+2T>G)
18g.23538540A>GCA401792067NPC1c.3041+2T>C (n.3041+2T>C)
c.2119+2T>C
n.674+2T>C
n.384+2T>C
c.3092+2T>C (n.3092+2T>C)
c.2627+2T>C (n.2627+2T>C)
18g.23538540A>TCA401792066NPC1c.3041+2T>A (n.3041+2T>A)
c.2119+2T>A
n.674+2T>A
n.384+2T>A
c.3092+2T>A (n.3092+2T>A)
c.2627+2T>A (n.2627+2T>A)
18g.23538540dupCA2695227434NPC1c.3041+2dup (n.3041+2dup)
c.2119+2dup
n.674+2dup
n.384+2dup
c.3092+2dup (n.3092+2dup)
c.2627+2dup (n.2627+2dup)
18g.23538541C>ACA401792068NPC1c.3041+1G>T (n.3041+1G>T)
c.2119+1G>T
n.674+1G>T
n.384+1G>T
c.3092+1G>T (n.3092+1G>T)
c.2627+1G>T (n.2627+1G>T)
 ClinVar
18g.23538541C>GCA401792070NPC1c.3041+1G>C (n.3041+1G>C)
c.2119+1G>C
n.674+1G>C
n.384+1G>C
c.3092+1G>C (n.3092+1G>C)
c.2627+1G>C (n.2627+1G>C)
18g.23538541C>TCA401792069NPC1c.3041+1G>A (n.3041+1G>A)
c.2119+1G>A
n.674+1G>A
n.384+1G>A
c.3092+1G>A (n.3092+1G>A)
c.2627+1G>A (n.2627+1G>A)
 dbSNP
18g.23538543dupCA2839424377NPC1c.3041+1dup
c.2119+1dup
n.674+1dup
n.384+1dup
c.3092+1dup
c.2627+1dup
18g.23538542C>ACA401792071NPC1c.3041G>T (p.Gly1014Val)
c.2119G>T
n.674G>T
n.384G>T
c.3092G>T (p.Gly1031Val)
c.2627G>T (p.Gly876Val)
 dbSNP gnomAD v4
18g.23538542C=CA2290165336NPC1c.3041G= (p.Gly1014=)
c.2119G=
n.674G=
n.384G=
c.3092G= (p.Gly1031=)
c.2627G= (p.Gly876=)
18g.23538542C>GCA401792073NPC1c.3041G>C (p.Gly1014Ala)
c.2119G>C
n.674G>C
n.384G>C
c.3092G>C (p.Gly1031Ala)
c.2627G>C (p.Gly876Ala)
18g.23538542C>TCA401792072NPC1c.3041G>A (p.Gly1014Glu)
c.2119G>A
n.674G>A
n.384G>A
c.3092G>A (p.Gly1031Glu)
c.2627G>A (p.Gly876Glu)
18g.23538543C>ACA401792074NPC1c.3040G>T (p.Gly1014Trp)
c.2118G>T
n.673G>T
n.383G>T
c.3091G>T (p.Gly1031Trp)
c.2626G>T (p.Gly876Trp)
18g.23538543C=CA2290165337NPC1c.3040G= (p.Gly1014=)
c.2118G=
n.673G=
n.383G=
c.3091G= (p.Gly1031=)
c.2626G= (p.Gly876=)
18g.23538543C>GCA401792076NPC1c.3040G>C (p.Gly1014Arg)
c.2118G>C
n.673G>C
n.383G>C
c.3091G>C (p.Gly1031Arg)
c.2626G>C (p.Gly876Arg)
18g.23538543C>TCA401792075NPC1c.3040G>A (p.Gly1014Arg)
c.2118G>A
n.673G>A
n.383G>A
c.3091G>A (p.Gly1031Arg)
c.2626G>A (p.Gly876Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.23538544T>ACA401792077NPC1c.3039A>T (p.Lys1013Asn)
c.2117A>T
n.672A>T
n.382A>T
c.3090A>T (p.Lys1030Asn)
c.2625A>T (p.Lys875Asn)
18g.23538544T>CCA8912890NPC1c.3039A>G (p.Lys1013=)
c.2117A>G
n.672A>G
n.382A>G
c.3090A>G (p.Lys1030=)
c.2625A>G (p.Lys875=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538544T>GCA401792078NPC1c.3039A>C (p.Lys1013Asn)
c.2117A>C
n.672A>C
n.382A>C
c.3090A>C (p.Lys1030Asn)
c.2625A>C (p.Lys875Asn)
18g.23538544T=CA2290165338NPC1c.3039A= (p.Lys1013=)
c.2117A=
n.672A=
n.382A=
c.3090A= (p.Lys1030=)
c.2625A= (p.Lys875=)
18g.23538546dupCA297080661NPC1c.3039dup (p.Gly1014ArgfsTer7)
c.2117dup
n.672dup
n.382dup
c.3090dup (p.Gly1031ArgfsTer7)
c.2625dup (p.Gly876ArgfsTer7)
 dbSNP gnomAD v4
18g.23538545T>ACA401792079NPC1c.3038A>T (p.Lys1013Ile)
c.2116A>T
n.671A>T
n.381A>T
c.3089A>T (p.Lys1030Ile)
c.2624A>T (p.Lys875Ile)
18g.23538545T>CCA401792080NPC1c.3038A>G (p.Lys1013Arg)
c.2116A>G
n.671A>G
n.381A>G
c.3089A>G (p.Lys1030Arg)
c.2624A>G (p.Lys875Arg)
 dbSNP
18g.23538545T>GCA401792081NPC1c.3038A>C (p.Lys1013Thr)
c.2116A>C
n.671A>C
n.381A>C
c.3089A>C (p.Lys1030Thr)
c.2624A>C (p.Lys875Thr)
18g.23538545T=CA2290165339NPC1c.3038A= (p.Lys1013=)
c.2116A=
n.671A=
n.381A=
c.3089A= (p.Lys1030=)
c.2624A= (p.Lys875=)
18g.23538545_23538551delinsGAGTAAACCTCA2580095494NPC1c.3032_3038delinsAGGTTTACTC (p.Cys1011Ter)
c.2110_2116delinsAGGTTTACTC
n.665_671delinsAGGTTTACTC
n.375_381delinsAGGTTTACTC
c.3083_3089delinsAGGTTTACTC (p.Cys1028Ter)
c.2618_2624delinsAGGTTTACTC (p.Cys873Ter)
 ClinVar
18g.23538546T>ACA401792082NPC1c.3037A>T (p.Lys1013Ter)
c.2115A>T
n.670A>T
n.380A>T
c.3088A>T (p.Lys1030Ter)
c.2623A>T (p.Lys875Ter)
18g.23538546T>CCA401792083NPC1c.3037A>G (p.Lys1013Glu)
c.2115A>G
n.670A>G
n.380A>G
c.3088A>G (p.Lys1030Glu)
c.2623A>G (p.Lys875Glu)
18g.23538546T>GCA401792084NPC1c.3037A>C (p.Lys1013Gln)
c.2115A>C
n.670A>C
n.380A>C
c.3088A>C (p.Lys1030Gln)
c.2623A>C (p.Lys875Gln)
18g.23538547G>ACA8912891NPC1c.3036C>T (p.Gly1012=)
c.2114C>T
n.669C>T
n.379C>T
c.3087C>T (p.Gly1029=)
c.2622C>T (p.Gly874=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538547G>CCA503322450NPC1c.3036C>G (p.Gly1012=)
c.2114C>G
n.669C>G
n.379C>G
c.3087C>G (p.Gly1029=)
c.2622C>G (p.Gly874=)
18g.23538547G=CA2290165340NPC1c.3036C= (p.Gly1012=)
c.2114C=
n.669C=
n.379C=
c.3087C= (p.Gly1029=)
c.2622C= (p.Gly874=)
18g.23538547G>TCA503322449NPC1c.3036C>A (p.Gly1012=)
c.2114C>A
n.669C>A
n.379C>A
c.3087C>A (p.Gly1029=)
c.2622C>A (p.Gly874=)
 COSMIC COSMIC
18g.23538548C>ACA401792087NPC1c.3035G>T (p.Gly1012Val)
c.2113G>T
n.668G>T
n.378G>T
c.3086G>T (p.Gly1029Val)
c.2621G>T (p.Gly874Val)
18g.23538548C>GCA401792085NPC1c.3035G>C (p.Gly1012Ala)
c.2113G>C
n.668G>C
n.378G>C
c.3086G>C (p.Gly1029Ala)
c.2621G>C (p.Gly874Ala)
18g.23538548C>TCA401792086NPC1c.3035G>A (p.Gly1012Asp)
c.2113G>A
n.668G>A
n.378G>A
c.3086G>A (p.Gly1029Asp)
c.2621G>A (p.Gly874Asp)
 ClinVar gnomAD v4
18g.23538549dupCA2840378421NPC1c.3035dup (p.Lys1013GlnfsTer8)
c.2113dup
n.668dup
n.378dup
c.3086dup (p.Lys1030GlnfsTer8)
c.2621dup (p.Lys875GlnfsTer8)
18g.23538549C>ACA401792088NPC1c.3034G>T (p.Gly1012Cys)
c.2112G>T
n.667G>T
n.377G>T
c.3085G>T (p.Gly1029Cys)
c.2620G>T (p.Gly874Cys)
 ClinVar dbSNP gnomAD v4
18g.23538549C=CA2290165341NPC1c.3034G= (p.Gly1012=)
c.2112G=
n.667G=
n.377G=
c.3085G= (p.Gly1029=)
c.2620G= (p.Gly874=)
18g.23538549C>GCA401792089NPC1c.3034G>C (p.Gly1012Arg)
c.2112G>C
n.667G>C
n.377G>C
c.3085G>C (p.Gly1029Arg)
c.2620G>C (p.Gly874Arg)
18g.23538549C>TCA401792090NPC1c.3034G>A (p.Gly1012Ser)
c.2112G>A
n.667G>A
n.377G>A
c.3085G>A (p.Gly1029Ser)
c.2620G>A (p.Gly874Ser)
18g.23538550A=CA2290165342NPC1c.3033T= (p.Cys1011=)
c.2111T=
n.666T=
n.376T=
c.3084T= (p.Cys1028=)
c.2619T= (p.Cys873=)
18g.23538550A>CCA401792091NPC1c.3033T>G (p.Cys1011Trp)
c.2111T>G
n.666T>G
n.376T>G
c.3084T>G (p.Cys1028Trp)
c.2619T>G (p.Cys873Trp)
18g.23538550A>GCA503322451NPC1c.3033T>C (p.Cys1011=)
c.2111T>C
n.666T>C
n.376T>C
c.3084T>C (p.Cys1028=)
c.2619T>C (p.Cys873=)
 dbSNP gnomAD v2 gnomAD v4
18g.23538550A>TCA401792092NPC1c.3033T>A (p.Cys1011Ter)
c.2111T>A
n.666T>A
n.376T>A
c.3084T>A (p.Cys1028Ter)
c.2619T>A (p.Cys873Ter)
18g.23538551C>ACA401792093NPC1c.3032G>T (p.Cys1011Phe)
c.2110G>T
n.665G>T
n.375G>T
c.3083G>T (p.Cys1028Phe)
c.2618G>T (p.Cys873Phe)
18g.23538551C>GCA401792094NPC1c.3032G>C (p.Cys1011Ser)
c.2110G>C
n.665G>C
n.375G>C
c.3083G>C (p.Cys1028Ser)
c.2618G>C (p.Cys873Ser)
18g.23538551C>TCA401792095NPC1c.3032G>A (p.Cys1011Tyr)
c.2110G>A
n.665G>A
n.375G>A
c.3083G>A (p.Cys1028Tyr)
c.2618G>A (p.Cys873Tyr)
18g.23538552A=CA2290165343NPC1c.3031T= (p.Cys1011=)
c.2109T=
n.664T=
n.374T=
c.3082T= (p.Cys1028=)
c.2617T= (p.Cys873=)
18g.23538552A>CCA401792096NPC1c.3031T>G (p.Cys1011Gly)
c.2109T>G
n.664T>G
n.374T>G
c.3082T>G (p.Cys1028Gly)
c.2617T>G (p.Cys873Gly)
18g.23538552A>GCA401792097NPC1c.3031T>C (p.Cys1011Arg)
c.2109T>C
n.664T>C
n.374T>C
c.3082T>C (p.Cys1028Arg)
c.2617T>C (p.Cys873Arg)
 gnomAD v4
18g.23538552A>TCA8912892NPC1c.3031T>A (p.Cys1011Ser)
c.2109T>A
n.664T>A
n.374T>A
c.3082T>A (p.Cys1028Ser)
c.2617T>A (p.Cys873Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538553C>ACA401792099NPC1c.3030G>T (p.Lys1010Asn)
c.2108G>T
n.663G>T
n.373G>T
c.3081G>T (p.Lys1027Asn)
c.2616G>T (p.Lys872Asn)
18g.23538553C=CA2290165344NPC1c.3030G= (p.Lys1010=)
c.2108G=
n.663G=
n.373G=
c.3081G= (p.Lys1027=)
c.2616G= (p.Lys872=)
18g.23538553C>GCA401792098NPC1c.3030G>C (p.Lys1010Asn)
c.2108G>C
n.663G>C
n.373G>C
c.3081G>C (p.Lys1027Asn)
c.2616G>C (p.Lys872Asn)
18g.23538553C>TCA8912893NPC1c.3030G>A (p.Lys1010=)
c.2108G>A
n.663G>A
n.373G>A
c.3081G>A (p.Lys1027=)
c.2616G>A (p.Lys872=)
 dbSNP ExAC gnomAD v2
18g.23538554T>ACA401792102NPC1c.3029A>T (p.Lys1010Met)
c.2107A>T
n.662A>T
n.372A>T
c.3080A>T (p.Lys1027Met)
c.2615A>T (p.Lys872Met)
18g.23538554T>CCA401792100NPC1c.3029A>G (p.Lys1010Arg)
c.2107A>G
n.662A>G
n.372A>G
c.3080A>G (p.Lys1027Arg)
c.2615A>G (p.Lys872Arg)
 dbSNP gnomAD v4
18g.23538554T>GCA401792101NPC1c.3029A>C (p.Lys1010Thr)
c.2107A>C
n.662A>C
n.372A>C
c.3080A>C (p.Lys1027Thr)
c.2615A>C (p.Lys872Thr)
18g.23538554T=CA2290165345NPC1c.3029A= (p.Lys1010=)
c.2107A=
n.662A=
n.372A=
c.3080A= (p.Lys1027=)
c.2615A= (p.Lys872=)
18g.23538555T>ACA401792103NPC1c.3028A>T (p.Lys1010Ter)
c.2106A>T
n.661A>T
n.371A>T
c.3079A>T (p.Lys1027Ter)
c.2614A>T (p.Lys872Ter)
18g.23538555T>CCA401792104NPC1c.3028A>G (p.Lys1010Glu)
c.2106A>G
n.661A>G
n.371A>G
c.3079A>G (p.Lys1027Glu)
c.2614A>G (p.Lys872Glu)
 COSMIC COSMIC
18g.23538555T>GCA297080679NPC1c.3028A>C (p.Lys1010Gln)
c.2106A>C
n.661A>C
n.371A>C
c.3079A>C (p.Lys1027Gln)
c.2614A>C (p.Lys872Gln)
 dbSNP
18g.23538555T=CA2290165346NPC1c.3028A= (p.Lys1010=)
c.2106A=
n.661A=
n.371A=
c.3079A= (p.Lys1027=)
c.2614A= (p.Lys872=)
18g.23538555_23538556delinsTGCA2290165347NPC1c.3027_3028delinsCA (p.Pro1009=)
c.2105_2106delinsCA
n.660_661delinsCA
n.370_371delinsCA
c.3078_3079delinsCA (p.Pro1026=)
c.2613_2614delinsCA (p.Pro871=)
18g.23538556G>ACA503322452NPC1c.3027C>T (p.Pro1009=)
c.2105C>T
n.660C>T
n.370C>T
c.3078C>T (p.Pro1026=)
c.2613C>T (p.Pro871=)
18g.23538556G>CCA8912894NPC1c.3027C>G (p.Pro1009=)
c.2105C>G
n.660C>G
n.370C>G
c.3078C>G (p.Pro1026=)
c.2613C>G (p.Pro871=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538556G=CA2290165348NPC1c.3027C= (p.Pro1009=)
c.2105C=
n.660C=
n.370C=
c.3078C= (p.Pro1026=)
c.2613C= (p.Pro871=)
18g.23538556G>TCA503322453NPC1c.3027C>A (p.Pro1009=)
c.2105C>A
n.660C>A
n.370C>A
c.3078C>A (p.Pro1026=)
c.2613C>A (p.Pro871=)
18g.23538559delCA915952522NPC1c.3027del (p.Lys1010SerfsTer?)
c.2105del
n.660del
n.370del
c.3078del (p.Lys1027SerfsTer?)
c.2613del (p.Lys872SerfsTer?)
 ClinVar dbSNP
18g.23538558_23538559delCA2580095495NPC1c.3026_3027del (p.Pro1009GlnfsTer11)
c.2104_2105del
n.659_660del
n.369_370del
c.3077_3078del (p.Pro1026GlnfsTer11)
c.2612_2613del (p.Pro871GlnfsTer11)
 ClinVar
18g.23538557G>ACA401792107NPC1c.3026C>T (p.Pro1009Leu)
c.2104C>T
n.659C>T
n.369C>T
c.3077C>T (p.Pro1026Leu)
c.2612C>T (p.Pro871Leu)
 dbSNP
18g.23538557G>CCA401792105NPC1c.3026C>G (p.Pro1009Arg)
c.2104C>G
n.659C>G
n.369C>G
c.3077C>G (p.Pro1026Arg)
c.2612C>G (p.Pro871Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.23538557G=CA2290165349NPC1c.3026C= (p.Pro1009=)
c.2104C=
n.659C=
n.369C=
c.3077C= (p.Pro1026=)
c.2612C= (p.Pro871=)
18g.23538557G>TCA401792106NPC1c.3026C>A (p.Pro1009His)
c.2104C>A
n.659C>A
n.369C>A
c.3077C>A (p.Pro1026His)
c.2612C>A (p.Pro871His)
18g.23538558G>ACA401792108NPC1c.3025C>T (p.Pro1009Ser)
c.2103C>T
n.658C>T
n.368C>T
c.3076C>T (p.Pro1026Ser)
c.2611C>T (p.Pro871Ser)
 gnomAD v4
18g.23538558G>CCA401792109NPC1c.3025C>G (p.Pro1009Ala)
c.2103C>G
n.658C>G
n.368C>G
c.3076C>G (p.Pro1026Ala)
c.2611C>G (p.Pro871Ala)
18g.23538558G>TCA401792110NPC1c.3025C>A (p.Pro1009Thr)
c.2103C>A
n.658C>A
n.368C>A
c.3076C>A (p.Pro1026Thr)
c.2611C>A (p.Pro871Thr)
18g.23538558_23538559insTTAGCA777718519NPC1c.3025_3026insTAAC (p.Pro1009LeufsTer13)
c.2103_2104insTAAC
n.658_659insTAAC
n.368_369insTAAC
c.3076_3077insTAAC (p.Pro1026LeufsTer13)
c.2611_2612insTAAC (p.Pro871LeufsTer13)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23538560_23538577delCA2576470471NPC1c.3008_3025del (p.Leu1003_Asn1008del)
c.2086_2103del
n.641_658del
n.351_368del
c.3059_3076del (p.Leu1020_Asn1025del)
c.2594_2611del (p.Leu865_Asn870del)
18g.23538559G>ACA503322454NPC1c.3024C>T (p.Asn1008=)
c.2102C>T
n.657C>T
n.367C>T
c.3075C>T (p.Asn1025=)
c.2610C>T (p.Asn870=)
 ClinVar dbSNP
18g.23538559G>CCA401792111NPC1c.3024C>G (p.Asn1008Lys)
c.2102C>G
n.657C>G
n.367C>G
c.3075C>G (p.Asn1025Lys)
c.2610C>G (p.Asn870Lys)
18g.23538559G>TCA401792112NPC1c.3024C>A (p.Asn1008Lys)
c.2102C>A
n.657C>A
n.367C>A
c.3075C>A (p.Asn1025Lys)
c.2610C>A (p.Asn870Lys)
18g.23538560T>ACA401792113NPC1c.3023A>T (p.Asn1008Ile)
c.2101A>T
n.656A>T
n.366A>T
c.3074A>T (p.Asn1025Ile)
c.2609A>T (p.Asn870Ile)
18g.23538560T>CCA401792115NPC1c.3023A>G (p.Asn1008Ser)
c.2101A>G
n.656A>G
n.366A>G
c.3074A>G (p.Asn1025Ser)
c.2609A>G (p.Asn870Ser)
18g.23538560T>GCA401792114NPC1c.3023A>C (p.Asn1008Thr)
c.2101A>C
n.656A>C
n.366A>C
c.3074A>C (p.Asn1025Thr)
c.2609A>C (p.Asn870Thr)
 dbSNP
18g.23538560T=CA2290165350NPC1c.3023A= (p.Asn1008=)
c.2101A=
n.656A=
n.366A=
c.3074A= (p.Asn1025=)
c.2609A= (p.Asn870=)
18g.23538561T>ACA401792116NPC1c.3022A>T (p.Asn1008Tyr)
c.2100A>T
n.655A>T
n.365A>T
c.3073A>T (p.Asn1025Tyr)
c.2608A>T (p.Asn870Tyr)
18g.23538561T>CCA401792117NPC1c.3022A>G (p.Asn1008Asp)
c.2100A>G
n.655A>G
n.365A>G
c.3073A>G (p.Asn1025Asp)
c.2608A>G (p.Asn870Asp)
18g.23538561T>GCA401792118NPC1c.3022A>C (p.Asn1008His)
c.2100A>C
n.655A>C
n.365A>C
c.3073A>C (p.Asn1025His)
c.2608A>C (p.Asn870His)
 gnomAD v4
18g.23538562A>CCA503322455NPC1c.3021T>G (p.Pro1007=)
c.2099T>G
n.654T>G
n.364T>G
c.3072T>G (p.Pro1024=)
c.2607T>G (p.Pro869=)
18g.23538562A>GCA503322456NPC1c.3021T>C (p.Pro1007=)
c.2099T>C
n.654T>C
n.364T>C
c.3072T>C (p.Pro1024=)
c.2607T>C (p.Pro869=)
 gnomAD v4
18g.23538562A>TCA503322457NPC1c.3021T>A (p.Pro1007=)
c.2099T>A
n.654T>A
n.364T>A
c.3072T>A (p.Pro1024=)
c.2607T>A (p.Pro869=)
18g.23538563G>ACA8912895NPC1c.3020C>T (p.Pro1007Leu)
c.2098C>T
n.653C>T
n.363C>T
c.3071C>T (p.Pro1024Leu)
c.2606C>T (p.Pro869Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538563G>CCA401792119NPC1c.3020C>G (p.Pro1007Arg)
c.2098C>G
n.653C>G
n.363C>G
c.3071C>G (p.Pro1024Arg)
c.2606C>G (p.Pro869Arg)
18g.23538563G=CA2290165351NPC1c.3020C= (p.Pro1007=)
c.2098C=
n.653C=
n.363C=
c.3071C= (p.Pro1024=)
c.2606C= (p.Pro869=)
18g.23538563G>TCA401792120NPC1c.3020C>A (p.Pro1007His)
c.2098C>A
n.653C>A
n.363C>A
c.3071C>A (p.Pro1024His)
c.2606C>A (p.Pro869His)
18g.23538564G>ACA401792121NPC1c.3019C>T (p.Pro1007Ser)
c.2097C>T
n.652C>T
n.362C>T
c.3070C>T (p.Pro1024Ser)
c.2605C>T (p.Pro869Ser)
18g.23538564G>CCA340032NPC1c.3019C>G (p.Pro1007Ala)
c.2097C>G
n.652C>G
n.362C>G
c.3070C>G (p.Pro1024Ala)
c.2605C>G (p.Pro869Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538564G=CA2290165352NPC1c.3019C= (p.Pro1007=)
c.2097C=
n.652C=
n.362C=
c.3070C= (p.Pro1024=)
c.2605C= (p.Pro869=)
18g.23538564G>TCA401792122NPC1c.3019C>A (p.Pro1007Thr)
c.2097C>A
n.652C>A
n.362C>A
c.3070C>A (p.Pro1024Thr)
c.2605C>A (p.Pro869Thr)
18g.23538565G>ACA503322458NPC1c.3018C>T (p.Asn1006=)
c.2096C>T
n.651C>T
n.361C>T
c.3069C>T (p.Asn1023=)
c.2604C>T (p.Asn868=)
18g.23538565G>CCA401792123NPC1c.3018C>G (p.Asn1006Lys)
c.2096C>G
n.651C>G
n.361C>G
c.3069C>G (p.Asn1023Lys)
c.2604C>G (p.Asn868Lys)
18g.23538565G>TCA401792124NPC1c.3018C>A (p.Asn1006Lys)
c.2096C>A
n.651C>A
n.361C>A
c.3069C>A (p.Asn1023Lys)
c.2604C>A (p.Asn868Lys)
18g.23538566T>ACA401792126NPC1c.3017A>T (p.Asn1006Ile)
c.2095A>T
n.650A>T
n.360A>T
c.3068A>T (p.Asn1023Ile)
c.2603A>T (p.Asn868Ile)
 gnomAD v4
18g.23538566T>CCA401792127NPC1c.3017A>G (p.Asn1006Ser)
c.2095A>G
n.650A>G
n.360A>G
c.3068A>G (p.Asn1023Ser)
c.2603A>G (p.Asn868Ser)
18g.23538566T>GCA401792125NPC1c.3017A>C (p.Asn1006Thr)
c.2095A>C
n.650A>C
n.360A>C
c.3068A>C (p.Asn1023Thr)
c.2603A>C (p.Asn868Thr)
 dbSNP
18g.23538566T=CA2290165353NPC1c.3017A= (p.Asn1006=)
c.2095A=
n.650A=
n.360A=
c.3068A= (p.Asn1023=)
c.2603A= (p.Asn868=)
18g.23538567delCA2580095497NPC1c.3017del (p.Asn1006ThrfsTer?)
c.2095del
n.650del
n.360del
c.3068del (p.Asn1023ThrfsTer?)
c.2603del (p.Asn868ThrfsTer?)
 ClinVar
18g.23538567T>ACA401792128NPC1c.3016A>T (p.Asn1006Tyr)
c.2094A>T
n.649A>T
n.359A>T
c.3067A>T (p.Asn1023Tyr)
c.2602A>T (p.Asn868Tyr)
18g.23538567T>CCA401792130NPC1c.3016A>G (p.Asn1006Asp)
c.2094A>G
n.649A>G
n.359A>G
c.3067A>G (p.Asn1023Asp)
c.2602A>G (p.Asn868Asp)
 gnomAD v4
18g.23538567T>GCA401792129NPC1c.3016A>C (p.Asn1006His)
c.2094A>C
n.649A>C
n.359A>C
c.3067A>C (p.Asn1023His)
c.2602A>C (p.Asn868His)
18g.23538568A>CCA401792131NPC1c.3015T>G (p.Asp1005Glu)
c.2093T>G
n.648T>G
n.358T>G
c.3066T>G (p.Asp1022Glu)
c.2601T>G (p.Asp867Glu)
18g.23538568A>GCA503322459NPC1c.3015T>C (p.Asp1005=)
c.2093T>C
n.648T>C
n.358T>C
c.3066T>C (p.Asp1022=)
c.2601T>C (p.Asp867=)
18g.23538568A>TCA401792132NPC1c.3015T>A (p.Asp1005Glu)
c.2093T>A
n.648T>A
n.358T>A
c.3066T>A (p.Asp1022Glu)
c.2601T>A (p.Asp867Glu)
18g.23538569T>ACA401792133NPC1c.3014A>T (p.Asp1005Val)
c.2092A>T
n.647A>T
n.357A>T
c.3065A>T (p.Asp1022Val)
c.2600A>T (p.Asp867Val)
18g.23538569T>CCA401792134NPC1c.3014A>G (p.Asp1005Gly)
c.2092A>G
n.647A>G
n.357A>G
c.3065A>G (p.Asp1022Gly)
c.2600A>G (p.Asp867Gly)
18g.23538569T>GCA401792135NPC1c.3014A>C (p.Asp1005Ala)
c.2092A>C
n.647A>C
n.357A>C
c.3065A>C (p.Asp1022Ala)
c.2600A>C (p.Asp867Ala)
18g.23538570C>ACA401792136NPC1c.3013G>T (p.Asp1005Tyr)
c.2091G>T
n.646G>T
n.356G>T
c.3064G>T (p.Asp1022Tyr)
c.2599G>T (p.Asp867Tyr)
18g.23538570C>GCA401792137NPC1c.3013G>C (p.Asp1005His)
c.2091G>C
n.646G>C
n.356G>C
c.3064G>C (p.Asp1022His)
c.2599G>C (p.Asp867His)
18g.23538570C>TCA401792138NPC1c.3013G>A (p.Asp1005Asn)
c.2091G>A
n.646G>A
n.356G>A
c.3064G>A (p.Asp1022Asn)
c.2599G>A (p.Asp867Asn)
18g.23538571C>ACA503322460NPC1c.3012G>T (p.Ser1004=)
c.2090G>T
n.645G>T
n.355G>T
c.3063G>T (p.Ser1021=)
c.2598G>T (p.Ser866=)
18g.23538571C=CA2290165354NPC1c.3012G= (p.Ser1004=)
c.2090G=
n.645G=
n.355G=
c.3063G= (p.Ser1021=)
c.2598G= (p.Ser866=)
18g.23538571C>GCA503322461NPC1c.3012G>C (p.Ser1004=)
c.2090G>C
n.645G>C
n.355G>C
c.3063G>C (p.Ser1021=)
c.2598G>C (p.Ser866=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23538571C>TCA8912896NPC1c.3012G>A (p.Ser1004=)
c.2090G>A
n.645G>A
n.355G>A
c.3063G>A (p.Ser1021=)
c.2598G>A (p.Ser866=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538572G>ACA8912897NPC1c.3011C>T (p.Ser1004Leu)
c.2089C>T
n.644C>T
n.354C>T
c.3062C>T (p.Ser1021Leu)
c.2597C>T (p.Ser866Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538572G>CCA401792140NPC1c.3011C>G (p.Ser1004Trp)
c.2089C>G
n.644C>G
n.354C>G
c.3062C>G (p.Ser1021Trp)
c.2597C>G (p.Ser866Trp)
18g.23538572G=CA2290165355NPC1c.3011C= (p.Ser1004=)
c.2089C=
n.644C=
n.354C=
c.3062C= (p.Ser1021=)
c.2597C= (p.Ser866=)
18g.23538572G>TCA401792139NPC1c.3011C>A (p.Ser1004Ter)
c.2089C>A
n.644C>A
n.354C>A
c.3062C>A (p.Ser1021Ter)
c.2597C>A (p.Ser866Ter)
18g.23538572dupCA2840378422NPC1c.3011dup (p.Asp1005GlyfsTer2)
c.2089dup
n.644dup
n.354dup
c.3062dup (p.Asp1022GlyfsTer2)
c.2597dup (p.Asp867GlyfsTer2)
18g.23538573A>CCA401792141NPC1c.3010T>G (p.Ser1004Ala)
c.2088T>G
n.643T>G
n.353T>G
c.3061T>G (p.Ser1021Ala)
c.2596T>G (p.Ser866Ala)
18g.23538573A>GCA401792142NPC1c.3010T>C (p.Ser1004Pro)
c.2088T>C
n.643T>C
n.353T>C
c.3061T>C (p.Ser1021Pro)
c.2596T>C (p.Ser866Pro)
18g.23538573A>TCA401792143NPC1c.3010T>A (p.Ser1004Thr)
c.2088T>A
n.643T>A
n.353T>A
c.3061T>A (p.Ser1021Thr)
c.2596T>A (p.Ser866Thr)
18g.23538574A>CCA503322462NPC1c.3009T>G (p.Leu1003=)
c.2087T>G
n.642T>G
n.352T>G
c.3060T>G (p.Leu1020=)
c.2595T>G (p.Leu865=)
18g.23538574A>GCA503322463NPC1c.3009T>C (p.Leu1003=)
c.2087T>C
n.642T>C
n.352T>C
c.3060T>C (p.Leu1020=)
c.2595T>C (p.Leu865=)
18g.23538574A>TCA503322464NPC1c.3009T>A (p.Leu1003=)
c.2087T>A
n.642T>A
n.352T>A
c.3060T>A (p.Leu1020=)
c.2595T>A (p.Leu865=)
18g.23538575A>CCA401792144NPC1c.3008T>G (p.Leu1003Arg)
c.2086T>G
n.641T>G
n.351T>G
c.3059T>G (p.Leu1020Arg)
c.2594T>G (p.Leu865Arg)
18g.23538575A>GCA401792145NPC1c.3008T>C (p.Leu1003Pro)
c.2086T>C
n.641T>C
n.351T>C
c.3059T>C (p.Leu1020Pro)
c.2594T>C (p.Leu865Pro)
18g.23538575A>TCA401792146NPC1c.3008T>A (p.Leu1003His)
c.2086T>A
n.641T>A
n.351T>A
c.3059T>A (p.Leu1020His)
c.2594T>A (p.Leu865His)
 gnomAD v4
18g.23538576G>ACA401792147NPC1c.3007C>T (p.Leu1003Phe)
c.2085C>T
n.640C>T
n.350C>T
c.3058C>T (p.Leu1020Phe)
c.2593C>T (p.Leu865Phe)
18g.23538576G>CCA401792148NPC1c.3007C>G (p.Leu1003Val)
c.2085C>G
n.640C>G
n.350C>G
c.3058C>G (p.Leu1020Val)
c.2593C>G (p.Leu865Val)
18g.23538576G>TCA401792149NPC1c.3007C>A (p.Leu1003Ile)
c.2085C>A
n.640C>A
n.350C>A
c.3058C>A (p.Leu1020Ile)
c.2593C>A (p.Leu865Ile)
18g.23538577G>ACA503322465NPC1c.3006C>T (p.Phe1002=)
c.2084C>T
n.639C>T
n.349C>T
c.3057C>T (p.Phe1019=)
c.2592C>T (p.Phe864=)
 ClinVar dbSNP gnomAD v4
18g.23538577G>CCA401792150NPC1c.3006C>G (p.Phe1002Leu)
c.2084C>G
n.639C>G
n.349C>G
c.3057C>G (p.Phe1019Leu)
c.2592C>G (p.Phe864Leu)
18g.23538577G=CA2290165356NPC1c.3006C= (p.Phe1002=)
c.2084C=
n.639C=
n.349C=
c.3057C= (p.Phe1019=)
c.2592C= (p.Phe864=)
18g.23538577G>TCA401792151NPC1c.3006C>A (p.Phe1002Leu)
c.2084C>A
n.639C>A
n.349C>A
c.3057C>A (p.Phe1019Leu)
c.2592C>A (p.Phe864Leu)
18g.23538578A>CCA401792153NPC1c.3005T>G (p.Phe1002Cys)
c.2083T>G
n.638T>G
n.348T>G
c.3056T>G (p.Phe1019Cys)
c.2591T>G (p.Phe864Cys)
18g.23538578A>GCA401792154NPC1c.3005T>C (p.Phe1002Ser)
c.2083T>C
n.638T>C
n.348T>C
c.3056T>C (p.Phe1019Ser)
c.2591T>C (p.Phe864Ser)
18g.23538578A>TCA401792152NPC1c.3005T>A (p.Phe1002Tyr)
c.2083T>A
n.638T>A
n.348T>A
c.3056T>A (p.Phe1019Tyr)
c.2591T>A (p.Phe864Tyr)
18g.23538579A>CCA401792155NPC1c.3004T>G (p.Phe1002Val)
c.2082T>G
n.637T>G
n.347T>G
c.3055T>G (p.Phe1019Val)
c.2590T>G (p.Phe864Val)
18g.23538579A>GCA401792156NPC1c.3004T>C (p.Phe1002Leu)
c.2082T>C
n.637T>C
n.347T>C
c.3055T>C (p.Phe1019Leu)
c.2590T>C (p.Phe864Leu)
18g.23538579A>TCA401792157NPC1c.3004T>A (p.Phe1002Ile)
c.2082T>A
n.637T>A
n.347T>A
c.3055T>A (p.Phe1019Ile)
c.2590T>A (p.Phe864Ile)
18g.23538580delCA2580095498NPC1c.3003del (p.Met1001IlefsTer?)
c.2081del
n.636del
n.346del
c.3054del (p.Met1018IlefsTer?)
c.2589del (p.Met863IlefsTer?)
 ClinVar
18g.23538580C>ACA401792158NPC1c.3003G>T (p.Met1001Ile)
c.2081G>T
n.636G>T
n.346G>T
c.3054G>T (p.Met1018Ile)
c.2589G>T (p.Met863Ile)
18g.23538580C>GCA401792159NPC1c.3003G>C (p.Met1001Ile)
c.2081G>C
n.636G>C
n.346G>C
c.3054G>C (p.Met1018Ile)
c.2589G>C (p.Met863Ile)
18g.23538580C>TCA401792160NPC1c.3003G>A (p.Met1001Ile)
c.2081G>A
n.636G>A
n.346G>A
c.3054G>A (p.Met1018Ile)
c.2589G>A (p.Met863Ile)
 ClinVar dbSNP gnomAD v4
18g.23538581A>CCA401792161NPC1c.3002T>G (p.Met1001Arg)
c.2080T>G
n.635T>G
n.345T>G
c.3053T>G (p.Met1018Arg)
c.2588T>G (p.Met863Arg)
18g.23538581A>GCA401792162NPC1c.3002T>C (p.Met1001Thr)
c.2080T>C
n.635T>C
n.345T>C
c.3053T>C (p.Met1018Thr)
c.2588T>C (p.Met863Thr)
18g.23538581A>TCA401792163NPC1c.3002T>A (p.Met1001Lys)
c.2080T>A
n.635T>A
n.345T>A
c.3053T>A (p.Met1018Lys)
c.2588T>A (p.Met863Lys)
18g.23538582T>ACA401792164NPC1c.3001A>T (p.Met1001Leu)
c.2079A>T
n.634A>T
n.344A>T
c.3052A>T (p.Met1018Leu)
c.2587A>T (p.Met863Leu)
18g.23538582T>CCA401792165NPC1c.3001A>G (p.Met1001Val)
c.2079A>G
n.634A>G
n.344A>G
c.3052A>G (p.Met1018Val)
c.2587A>G (p.Met863Val)
 ClinVar dbSNP gnomAD v4
18g.23538582T>GCA401792166NPC1c.3001A>C (p.Met1001Leu)
c.2079A>C
n.634A>C
n.344A>C
c.3052A>C (p.Met1018Leu)
c.2587A>C (p.Met863Leu)
18g.23538582T=CA2290165357NPC1c.3001A= (p.Met1001=)
c.2079A=
n.634A=
n.344A=
c.3052A= (p.Met1018=)
c.2587A= (p.Met863=)
18g.23538583G>ACA503322466NPC1c.3000C>T (p.Pro1000=)
c.2078C>T
n.633C>T
n.343C>T
c.3051C>T (p.Pro1017=)
c.2586C>T (p.Pro862=)
 ClinVar
18g.23538583G>CCA503322467NPC1c.3000C>G (p.Pro1000=)
c.2078C>G
n.633C>G
n.343C>G
c.3051C>G (p.Pro1017=)
c.2586C>G (p.Pro862=)
18g.23538583G>TCA503322468NPC1c.3000C>A (p.Pro1000=)
c.2078C>A
n.633C>A
n.343C>A
c.3051C>A (p.Pro1017=)
c.2586C>A (p.Pro862=)
18g.23538584G>ACA401792169NPC1c.2999C>T (p.Pro1000Leu)
c.2077C>T
n.632C>T
n.342C>T
c.3050C>T (p.Pro1017Leu)
c.2585C>T (p.Pro862Leu)
18g.23538584G>CCA401792167NPC1c.2999C>G (p.Pro1000Arg)
c.2077C>G
n.632C>G
n.342C>G
c.3050C>G (p.Pro1017Arg)
c.2585C>G (p.Pro862Arg)
18g.23538584G>TCA401792168NPC1c.2999C>A (p.Pro1000His)
c.2077C>A
n.632C>A
n.342C>A
c.3050C>A (p.Pro1017His)
c.2585C>A (p.Pro862His)
18g.23538585G>ACA401792170NPC1c.2998C>T (p.Pro1000Ser)
c.2076C>T
n.631C>T
n.341C>T
c.3049C>T (p.Pro1017Ser)
c.2584C>T (p.Pro862Ser)
 ClinVar dbSNP COSMIC COSMIC
18g.23538585G>CCA401792171NPC1c.2998C>G (p.Pro1000Ala)
c.2076C>G
n.631C>G
n.341C>G
c.3049C>G (p.Pro1017Ala)
c.2584C>G (p.Pro862Ala)
18g.23538585G=CA2290165358NPC1c.2998C= (p.Pro1000=)
c.2076C=
n.631C=
n.341C=
c.3049C= (p.Pro1017=)
c.2584C= (p.Pro862=)
18g.23538585G>TCA401792172NPC1c.2998C>A (p.Pro1000Thr)
c.2076C>A
n.631C>A
n.341C>A
c.3049C>A (p.Pro1017Thr)
c.2584C>A (p.Pro862Thr)
18g.23538586C>ACA503322469NPC1c.2997G>T (p.Leu999=)
c.2075G>T
n.630G>T
n.340G>T
c.3048G>T (p.Leu1016=)
c.2583G>T (p.Leu861=)
18g.23538586C=CA2290165359NPC1c.2997G= (p.Leu999=)
c.2075G=
n.630G=
n.340G=
c.3048G= (p.Leu1016=)
c.2583G= (p.Leu861=)
18g.23538586C>GCA503322470NPC1c.2997G>C (p.Leu999=)
c.2075G>C
n.630G>C
n.340G>C
c.3048G>C (p.Leu1016=)
c.2583G>C (p.Leu861=)
18g.23538586C>TCA297080705NPC1c.2997G>A (p.Leu999=)
c.2075G>A
n.630G>A
n.340G>A
c.3048G>A (p.Leu1016=)
c.2583G>A (p.Leu861=)
 dbSNP
18g.23538587A>CCA401792173NPC1c.2996T>G (p.Leu999Arg)
c.2074T>G
n.629T>G
n.339T>G
c.3047T>G (p.Leu1016Arg)
c.2582T>G (p.Leu861Arg)
18g.23538587A>GCA401792174NPC1c.2996T>C (p.Leu999Pro)
c.2074T>C
n.629T>C
n.339T>C
c.3047T>C (p.Leu1016Pro)
c.2582T>C (p.Leu861Pro)
18g.23538587A>TCA401792175NPC1c.2996T>A (p.Leu999Gln)
c.2074T>A
n.629T>A
n.339T>A
c.3047T>A (p.Leu1016Gln)
c.2582T>A (p.Leu861Gln)
18g.23538588G>ACA503322471NPC1c.2995C>T (p.Leu999=)
c.2073C>T
n.628C>T
n.338C>T
c.3046C>T (p.Leu1016=)
c.2581C>T (p.Leu861=)
 ClinVar dbSNP gnomAD v4
18g.23538588G>CCA401792176NPC1c.2995C>G (p.Leu999Val)
c.2073C>G
n.628C>G
n.338C>G
c.3046C>G (p.Leu1016Val)
c.2581C>G (p.Leu861Val)
18g.23538588G>TCA401792177NPC1c.2995C>A (p.Leu999Met)
c.2073C>A
n.628C>A
n.338C>A
c.3046C>A (p.Leu1016Met)
c.2581C>A (p.Leu861Met)
18g.23538589dupCA2838390638NPC1c.2995dup (p.Leu999ProfsTer8)
c.2073dup
n.628dup
n.338dup
c.3046dup (p.Leu1016ProfsTer8)
c.2581dup (p.Leu861ProfsTer8)
18g.23538589G>ACA503322472NPC1c.2994C>T (p.Phe998=)
c.2072C>T
n.627C>T
n.337C>T
c.3045C>T (p.Phe1015=)
c.2580C>T (p.Phe860=)
 gnomAD v4
18g.23538589G>CCA401792178NPC1c.2994C>G (p.Phe998Leu)
c.2072C>G
n.627C>G
n.337C>G
c.3045C>G (p.Phe1015Leu)
c.2580C>G (p.Phe860Leu)
18g.23538589G>TCA401792179NPC1c.2994C>A (p.Phe998Leu)
c.2072C>A
n.627C>A
n.337C>A
c.3045C>A (p.Phe1015Leu)
c.2580C>A (p.Phe860Leu)
18g.23538590A=CA2290165360NPC1c.2993T= (p.Phe998=)
c.2071T=
n.626T=
n.336T=
c.3044T= (p.Phe1015=)
c.2579T= (p.Phe860=)
18g.23538590A>CCA401792180NPC1c.2993T>G (p.Phe998Cys)
c.2071T>G
n.626T>G
n.336T>G
c.3044T>G (p.Phe1015Cys)
c.2579T>G (p.Phe860Cys)
 COSMIC
18g.23538590A>GCA401792181NPC1c.2993T>C (p.Phe998Ser)
c.2071T>C
n.626T>C
n.336T>C
c.3044T>C (p.Phe1015Ser)
c.2579T>C (p.Phe860Ser)
 dbSNP
18g.23538590A>TCA401792182NPC1c.2993T>A (p.Phe998Tyr)
c.2071T>A
n.626T>A
n.336T>A
c.3044T>A (p.Phe1015Tyr)
c.2579T>A (p.Phe860Tyr)
18g.23538591A>CCA401792184NPC1c.2992T>G (p.Phe998Val)
c.2070T>G
n.625T>G
n.335T>G
c.3043T>G (p.Phe1015Val)
c.2578T>G (p.Phe860Val)
18g.23538591A>GCA401792185NPC1c.2992T>C (p.Phe998Leu)
c.2070T>C
n.625T>C
n.335T>C
c.3043T>C (p.Phe1015Leu)
c.2578T>C (p.Phe860Leu)
18g.23538591A>TCA401792183NPC1c.2992T>A (p.Phe998Ile)
c.2070T>A
n.625T>A
n.335T>A
c.3043T>A (p.Phe1015Ile)
c.2578T>A (p.Phe860Ile)
18g.23538592T>ACA401792187NPC1c.2991A>T (p.Arg997Ser)
c.2069A>T
n.624A>T
n.334A>T
c.3042A>T (p.Arg1014Ser)
c.2577A>T (p.Arg859Ser)
 ClinVar dbSNP
18g.23538592T>CCA503322473NPC1c.2991A>G (p.Arg997=)
c.2069A>G
n.624A>G
n.334A>G
c.3042A>G (p.Arg1014=)
c.2577A>G (p.Arg859=)
18g.23538592T>GCA401792186NPC1c.2991A>C (p.Arg997Ser)
c.2069A>C
n.624A>C
n.334A>C
c.3042A>C (p.Arg1014Ser)
c.2577A>C (p.Arg859Ser)
18g.23538593C>ACA401792190NPC1c.2990G>T (p.Arg997Ile)
c.2068G>T
n.623G>T
n.333G>T
c.3041G>T (p.Arg1014Ile)
c.2576G>T (p.Arg859Ile)
18g.23538593C>GCA401792188NPC1c.2990G>C (p.Arg997Thr)
c.2068G>C
n.623G>C
n.333G>C
c.3041G>C (p.Arg1014Thr)
c.2576G>C (p.Arg859Thr)
18g.23538593C>TCA401792189NPC1c.2990G>A (p.Arg997Lys)
c.2068G>A
n.623G>A
n.333G>A
c.3041G>A (p.Arg1014Lys)
c.2576G>A (p.Arg859Lys)
18g.23538594T>ACA401792191NPC1c.2989A>T (p.Arg997Ter)
c.2067A>T
n.622A>T
n.332A>T
c.3040A>T (p.Arg1014Ter)
c.2575A>T (p.Arg859Ter)
18g.23538594T>CCA401792192NPC1c.2989A>G (p.Arg997Gly)
c.2067A>G
n.622A>G
n.332A>G
c.3040A>G (p.Arg1014Gly)
c.2575A>G (p.Arg859Gly)
18g.23538594T>GCA503322474NPC1c.2989A>C (p.Arg997=)
c.2067A>C
n.622A>C
n.332A>C
c.3040A>C (p.Arg1014=)
c.2575A>C (p.Arg859=)
 gnomAD v4
18g.23538595C>ACA401792193NPC1c.2988G>T (p.Met996Ile)
c.2066G>T
n.621G>T
n.331G>T
c.3039G>T (p.Met1013Ile)
c.2574G>T (p.Met858Ile)
18g.23538595C=CA2290165361NPC1c.2988G= (p.Met996=)
c.2066G=
n.621G=
n.331G=
c.3039G= (p.Met1013=)
c.2574G= (p.Met858=)
18g.23538595C>GCA401792194NPC1c.2988G>C (p.Met996Ile)
c.2066G>C
n.621G>C
n.331G>C
c.3039G>C (p.Met1013Ile)
c.2574G>C (p.Met858Ile)
18g.23538595C>TCA401792195NPC1c.2988G>A (p.Met996Ile)
c.2066G>A
n.621G>A
n.331G>A
c.3039G>A (p.Met1013Ile)
c.2574G>A (p.Met858Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23538596A=CA2290165362NPC1c.2987T= (p.Met996=)
c.2065T=
n.620T=
n.330T=
c.3038T= (p.Met1013=)
c.2573T= (p.Met858=)
18g.23538596A>CCA401792196NPC1c.2987T>G (p.Met996Arg)
c.2065T>G
n.620T>G
n.330T>G
c.3038T>G (p.Met1013Arg)
c.2573T>G (p.Met858Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23538596A>GCA401792197NPC1c.2987T>C (p.Met996Thr)
c.2065T>C
n.620T>C
n.330T>C
c.3038T>C (p.Met1013Thr)
c.2573T>C (p.Met858Thr)
 gnomAD v4
18g.23538596A>TCA401792198NPC1c.2987T>A (p.Met996Lys)
c.2065T>A
n.620T>A
n.330T>A
c.3038T>A (p.Met1013Lys)
c.2573T>A (p.Met858Lys)
18g.23538597T>ACA401792199NPC1c.2986A>T (p.Met996Leu)
c.2064A>T
n.619A>T
n.329A>T
c.3037A>T (p.Met1013Leu)
c.2572A>T (p.Met858Leu)
18g.23538597T>CCA401792200NPC1c.2986A>G (p.Met996Val)
c.2064A>G
n.619A>G
n.329A>G
c.3037A>G (p.Met1013Val)
c.2572A>G (p.Met858Val)
18g.23538597T>GCA297080707NPC1c.2986A>C (p.Met996Leu)
c.2064A>C
n.619A>C
n.329A>C
c.3037A>C (p.Met1013Leu)
c.2572A>C (p.Met858Leu)
 dbSNP gnomAD v2 gnomAD v4
18g.23538597T=CA2290165363NPC1c.2986A= (p.Met996=)
c.2064A=
n.619A=
n.329A=
c.3037A= (p.Met1013=)
c.2572A= (p.Met858=)
18g.23538598G>ACA503322475NPC1c.2985C>T (p.Phe995=)
c.2063C>T
n.618C>T
n.328C>T
c.3036C>T (p.Phe1012=)
c.2571C>T (p.Phe857=)
 gnomAD v4
18g.23538598G>CCA401792201NPC1c.2985C>G (p.Phe995Leu)
c.2063C>G
n.618C>G
n.328C>G
c.3036C>G (p.Phe1012Leu)
c.2571C>G (p.Phe857Leu)
 ClinVar dbSNP
18g.23538598G>TCA401792202NPC1c.2985C>A (p.Phe995Leu)
c.2063C>A
n.618C>A
n.328C>A
c.3036C>A (p.Phe1012Leu)
c.2571C>A (p.Phe857Leu)
18g.23538599A=CA2290165364NPC1c.2984T= (p.Phe995=)
c.2062T=
n.617T=
n.327T=
c.3035T= (p.Phe1012=)
c.2570T= (p.Phe857=)
18g.23538599A>CCA401792203NPC1c.2984T>G (p.Phe995Cys)
c.2062T>G
n.617T>G
n.327T>G
c.3035T>G (p.Phe1012Cys)
c.2570T>G (p.Phe857Cys)
18g.23538599A>GCA401792204NPC1c.2984T>C (p.Phe995Ser)
c.2062T>C
n.617T>C
n.327T>C
c.3035T>C (p.Phe1012Ser)
c.2570T>C (p.Phe857Ser)
 dbSNP gnomAD v2
18g.23538599A>TCA401792205NPC1c.2984T>A (p.Phe995Tyr)
c.2062T>A
n.617T>A
n.327T>A
c.3035T>A (p.Phe1012Tyr)
c.2570T>A (p.Phe857Tyr)
18g.23538600A>CCA401792206NPC1c.2983T>G (p.Phe995Val)
c.2061T>G
n.616T>G
n.326T>G
c.3034T>G (p.Phe1012Val)
c.2569T>G (p.Phe857Val)
18g.23538600A>GCA401792207NPC1c.2983T>C (p.Phe995Leu)
c.2061T>C
n.616T>C
n.326T>C
c.3034T>C (p.Phe1012Leu)
c.2569T>C (p.Phe857Leu)
18g.23538600A>TCA401792208NPC1c.2983T>A (p.Phe995Ile)
c.2061T>A
n.616T>A
n.326T>A
c.3034T>A (p.Phe1012Ile)
c.2569T>A (p.Phe857Ile)
18g.23538601G>ACA503322476NPC1c.2982C>T (p.Asp994=)
c.2060C>T
n.615C>T
n.325C>T
c.3033C>T (p.Asp1011=)
c.2568C>T (p.Asp856=)
 ClinVar dbSNP
18g.23538601G>CCA401792209NPC1c.2982C>G (p.Asp994Glu)
c.2060C>G
n.615C>G
n.325C>G
c.3033C>G (p.Asp1011Glu)
c.2568C>G (p.Asp856Glu)
18g.23538601G>TCA401792210NPC1c.2982C>A (p.Asp994Glu)
c.2060C>A
n.615C>A
n.325C>A
c.3033C>A (p.Asp1011Glu)
c.2568C>A (p.Asp856Glu)
18g.23538602T>ACA401792211NPC1c.2981A>T (p.Asp994Val)
c.2059A>T
n.614A>T
n.324A>T
c.3032A>T (p.Asp1011Val)
c.2567A>T (p.Asp856Val)
18g.23538602T>CCA401792212NPC1c.2981A>G (p.Asp994Gly)
c.2059A>G
n.614A>G
n.324A>G
c.3032A>G (p.Asp1011Gly)
c.2567A>G (p.Asp856Gly)
18g.23538602T>GCA401792213NPC1c.2981A>C (p.Asp994Ala)
c.2059A>C
n.614A>C
n.324A>C
c.3032A>C (p.Asp1011Ala)
c.2567A>C (p.Asp856Ala)
18g.23538603C>ACA401792215NPC1c.2980G>T (p.Asp994Tyr)
c.2058G>T
n.613G>T
n.323G>T
c.3031G>T (p.Asp1011Tyr)
c.2566G>T (p.Asp856Tyr)
18g.23538603C>GCA401792216NPC1c.2980G>C (p.Asp994His)
c.2058G>C
n.613G>C
n.323G>C
c.3031G>C (p.Asp1011His)
c.2566G>C (p.Asp856His)
18g.23538603C>TCA401792214NPC1c.2980G>A (p.Asp994Asn)
c.2058G>A
n.613G>A
n.323G>A
c.3031G>A (p.Asp1011Asn)
c.2566G>A (p.Asp856Asn)
 gnomAD v4
18g.23538604T>ACA503322477NPC1c.2979A>T (p.Gly993=)
c.2057A>T
n.612A>T
n.322A>T
c.3030A>T (p.Gly1010=)
c.2565A>T (p.Gly855=)
18g.23538604T>CCA503322478NPC1c.2979A>G (p.Gly993=)
c.2057A>G
n.612A>G
n.322A>G
c.3030A>G (p.Gly1010=)
c.2565A>G (p.Gly855=)
 gnomAD v4
18g.23538604T>GCA503322479NPC1c.2979A>C (p.Gly993=)
c.2057A>C
n.612A>C
n.322A>C
c.3030A>C (p.Gly1010=)
c.2565A>C (p.Gly855=)
18g.23538604dupCA913014985NPC1c.2979dup (p.Asp994ArgfsTer13)
c.2057dup
n.612dup
n.322dup
c.3030dup (p.Asp1011ArgfsTer13)
c.2565dup (p.Asp856ArgfsTer13)
18g.23538604_23538605delinsTCCA2290165365NPC1c.2978_2979delinsGA (p.Gly993=)
c.2056_2057delinsGA
n.611_612delinsGA
n.321_322delinsGA
c.3029_3030delinsGA (p.Gly1010=)
c.2564_2565delinsGA (p.Gly855=)
18g.23538605C>ACA401792217NPC1c.2978G>T (p.Gly993Val)
c.2056G>T
n.611G>T
n.321G>T
c.3029G>T (p.Gly1010Val)
c.2564G>T (p.Gly855Val)
18g.23538605C=CA2290165366NPC1c.2978G= (p.Gly993=)
c.2056G=
n.611G=
n.321G=
c.3029G= (p.Gly1010=)
c.2564G= (p.Gly855=)
18g.23538605C>GCA401792218NPC1c.2978G>C (p.Gly993Ala)
c.2056G>C
n.611G>C
n.321G>C
c.3029G>C (p.Gly1010Ala)
c.2564G>C (p.Gly855Ala)
18g.23538605C>TCA8912899NPC1c.2978G>A (p.Gly993Glu)
c.2056G>A
n.611G>A
n.321G>A
c.3029G>A (p.Gly1010Glu)
c.2564G>A (p.Gly855Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538610dupCA658824813NPC1c.2978dup (p.Asp994ArgfsTer13)
c.2056dup
n.611dup
n.321dup
c.3029dup (p.Asp1011ArgfsTer13)
c.2564dup (p.Asp856ArgfsTer13)
 ClinVar dbSNP
18g.23538609_23538610dupCA2641271627NPC1c.2977_2978dup (p.Asp994GlufsTer4)
c.2055_2056dup
n.610_611dup
n.320_321dup
c.3028_3029dup (p.Asp1011GlufsTer4)
c.2563_2564dup (p.Asp856GlufsTer4)
 ClinVar gnomAD v4
18g.23538610delCA8912898NPC1c.2978del (p.Gly993GlufsTer4)
c.2056del
n.611del
n.321del
c.3029del (p.Gly1010GlufsTer4)
c.2564del (p.Gly855GlufsTer4)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538606C>ACA401792219NPC1c.2977G>T (p.Gly993Ter)
c.2055G>T
n.610G>T
n.320G>T
c.3028G>T (p.Gly1010Ter)
c.2563G>T (p.Gly855Ter)
18g.23538606C=CA2290165367NPC1c.2977G= (p.Gly993=)
c.2055G=
n.610G=
n.320G=
c.3028G= (p.Gly1010=)
c.2563G= (p.Gly855=)
18g.23538606C>GCA401792220NPC1c.2977G>C (p.Gly993Arg)
c.2055G>C
n.610G>C
n.320G>C
c.3028G>C (p.Gly1010Arg)
c.2563G>C (p.Gly855Arg)
18g.23538606C>TCA297080714NPC1c.2977G>A (p.Gly993Arg)
c.2055G>A
n.610G>A
n.320G>A
c.3028G>A (p.Gly1010Arg)
c.2563G>A (p.Gly855Arg)
 dbSNP
18g.23538607C>ACA503322480NPC1c.2976G>T (p.Gly992=)
c.2054G>T
n.609G>T
n.319G>T
c.3027G>T (p.Gly1009=)
c.2562G>T (p.Gly854=)
18g.23538607C>GCA503322481NPC1c.2976G>C (p.Gly992=)
c.2054G>C
n.609G>C
n.319G>C
c.3027G>C (p.Gly1009=)
c.2562G>C (p.Gly854=)
18g.23538607C>TCA503322482NPC1c.2976G>A (p.Gly992=)
c.2054G>A
n.609G>A
n.319G>A
c.3027G>A (p.Gly1009=)
c.2562G>A (p.Gly854=)
18g.23538608C>ACA401792221NPC1c.2975G>T (p.Gly992Val)
c.2053G>T
n.608G>T
n.318G>T
c.3026G>T (p.Gly1009Val)
c.2561G>T (p.Gly854Val)
 dbSNP gnomAD v4
18g.23538608C=CA2290165368NPC1c.2975G= (p.Gly992=)
c.2053G=
n.608G=
n.318G=
c.3026G= (p.Gly1009=)
c.2561G= (p.Gly854=)
18g.23538608C>GCA8912900NPC1c.2975G>C (p.Gly992Ala)
c.2053G>C
n.608G>C
n.318G>C
c.3026G>C (p.Gly1009Ala)
c.2561G>C (p.Gly854Ala)
 ClinVar dbSNP ExAC gnomAD v2
18g.23538608C>TCA401792222NPC1c.2975G>A (p.Gly992Glu)
c.2053G>A
n.608G>A
n.318G>A
c.3026G>A (p.Gly1009Glu)
c.2561G>A (p.Gly854Glu)
 dbSNP
18g.23538609C>ACA115895NPC1c.2974G>T (p.Gly992Trp)
c.2052G>T
n.607G>T
n.317G>T
c.3025G>T (p.Gly1009Trp)
c.2560G>T (p.Gly854Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538609C=CA2290165371NPC1c.2974G= (p.Gly992=)
c.2052G=
n.607G=
n.317G=
c.3025G= (p.Gly1009=)
c.2560G= (p.Gly854=)
18g.23538609C>GCA340034NPC1c.2974G>C (p.Gly992Arg)
c.2052G>C
n.607G>C
n.317G>C
c.3025G>C (p.Gly1009Arg)
c.2560G>C (p.Gly854Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538609C>TCA341663NPC1c.2974G>A (p.Gly992Arg)
c.2052G>A
n.607G>A
n.317G>A
c.3025G>A (p.Gly1009Arg)
c.2560G>A (p.Gly854Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538609_23538610delinsATCA658799013NPC1c.2973_2974delinsAT (p.Gly992Trp)
c.2051_2052delinsAT
n.606_607delinsAT
n.316_317delinsAT
c.3024_3025delinsAT (p.Gly1009Trp)
c.2559_2560delinsAT (p.Gly854Trp)
 ClinVar dbSNP
18g.23538609_23538610delinsCCCA2290165369NPC1c.2973_2974delinsGG (p.Gln991=)
c.2051_2052delinsGG
n.606_607delinsGG
n.316_317delinsGG
c.3024_3025delinsGG (p.Gln1008=)
c.2559_2560delinsGG (p.Gln853=)
18g.23538609_23538611delinsCCTCA2290165370NPC1c.2972_2974delinsAGG (p.Gln991=)
c.2050_2052delinsAGG
n.605_607delinsAGG
n.315_317delinsAGG
c.3023_3025delinsAGG (p.Gln1008=)
c.2558_2560delinsAGG (p.Gln853=)
18g.23538609_23538610insTCA2695227435NPC1c.2973_2974insA (p.Gly992ArgfsTer15)
c.2051_2052insA
n.606_607insA
n.316_317insA
c.3024_3025insA (p.Gly1009ArgfsTer15)
c.2559_2560insA (p.Gly854ArgfsTer15)
18g.23538610C>ACA8912901NPC1c.2973G>T (p.Gln991His)
c.2051G>T
n.606G>T
n.316G>T
c.3024G>T (p.Gln1008His)
c.2559G>T (p.Gln853His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538610C=CA2290165373NPC1c.2973G= (p.Gln991=)
c.2051G=
n.606G=
n.316G=
c.3024G= (p.Gln1008=)
c.2559G= (p.Gln853=)
18g.23538610C>GCA297080743NPC1c.2973G>C (p.Gln991His)
c.2051G>C
n.606G>C
n.316G>C
c.3024G>C (p.Gln1008His)
c.2559G>C (p.Gln853His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23538610C>TCA8912902NPC1c.2973G>A (p.Gln991=)
c.2051G>A
n.606G>A
n.316G>A
c.3024G>A (p.Gln1008=)
c.2559G>A (p.Gln853=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538610_23538611delCA274149NPC1c.2972_2973del (p.Gln991ArgfsTer15)
c.2050_2051del
n.605_606del
n.315_316del
c.3023_3024del (p.Gln1008ArgfsTer15)
c.2558_2559del (p.Gln853ArgfsTer15)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538610_23538611delinsCTCA2290165372NPC1c.2972_2973delinsAG (p.Gln991=)
c.2050_2051delinsAG
n.605_606delinsAG
n.315_316delinsAG
c.3023_3024delinsAG (p.Gln1008=)
c.2558_2559delinsAG (p.Gln853=)

Number of alleles fetched