Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23532378_23536675delCA913190465NPC1c.3243_3755-94del
c.2321_2833-94del
c.3294_3805+977del
c.3294_3806-94del
c.3243_3754+977del
c.2829_3340+977del
 ClinVar
18g.23534471T>ACA401790912NPC1c.3566A>T (p.Glu1189Val)
c.321A>T
n.90A>T
n.321A>T
c.2644A>T
c.243A>T
c.3617A>T (p.Glu1206Val)
c.3152A>T (p.Glu1051Val)
18g.23534471T>CCA8912726NPC1c.3566A>G (p.Glu1189Gly)
c.321A>G
n.90A>G
n.321A>G
c.2644A>G
c.243A>G
c.3617A>G (p.Glu1206Gly)
c.3152A>G (p.Glu1051Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23534471T>GCA401790913NPC1c.3566A>C (p.Glu1189Ala)
c.321A>C
n.90A>C
n.321A>C
c.2644A>C
c.243A>C
c.3617A>C (p.Glu1206Ala)
c.3152A>C (p.Glu1051Ala)
18g.23534471T=CA2290163321NPC1c.3566A= (p.Glu1189=)
c.321A=
n.90A=
n.321A=
c.2644A=
c.243A=
c.3617A= (p.Glu1206=)
c.3152A= (p.Glu1051=)
18g.23534472C>ACA401790914NPC1c.3565G>T (p.Glu1189Ter)
c.320G>T
n.89G>T
n.320G>T
c.2643G>T
c.242G>T
c.3616G>T (p.Glu1206Ter)
c.3151G>T (p.Glu1051Ter)
18g.23534472C>GCA401790915NPC1c.3565G>C (p.Glu1189Gln)
c.320G>C
n.89G>C
n.320G>C
c.2643G>C
c.242G>C
c.3616G>C (p.Glu1206Gln)
c.3151G>C (p.Glu1051Gln)
18g.23534472C>TCA401790916NPC1c.3565G>A (p.Glu1189Lys)
c.320G>A
n.89G>A
n.320G>A
c.2643G>A
c.242G>A
c.3616G>A (p.Glu1206Lys)
c.3151G>A (p.Glu1051Lys)
18g.23534472dupCA2695227420NPC1c.3565dup (p.Glu1189GlyfsTer?)
c.320dup
n.89dup
n.320dup
c.2643dup
c.242dup
c.3616dup (p.Glu1206GlyfsTer?)
c.3151dup (p.Glu1051GlyfsTer?)
18g.23534473T>ACA401790917NPC1c.3564A>T (p.Glu1188Asp)
c.319A>T
n.88A>T
n.319A>T
c.2642A>T
c.241A>T
c.3615A>T (p.Glu1205Asp)
c.3150A>T (p.Glu1050Asp)
18g.23534473T>CCA503322122NPC1c.3564A>G (p.Glu1188=)
c.319A>G
n.88A>G
n.319A>G
c.2642A>G
c.241A>G
c.3615A>G (p.Glu1205=)
c.3150A>G (p.Glu1050=)
 gnomAD v4
18g.23534473T>GCA401790918NPC1c.3564A>C (p.Glu1188Asp)
c.319A>C
n.88A>C
n.319A>C
c.2642A>C
c.241A>C
c.3615A>C (p.Glu1205Asp)
c.3150A>C (p.Glu1050Asp)
18g.23534473T=CA2290163322NPC1c.3564A= (p.Glu1188=)
c.319A=
n.88A=
n.319A=
c.2642A=
c.241A=
c.3615A= (p.Glu1205=)
c.3150A= (p.Glu1050=)
18g.23534474dupCA913014978NPC1c.3564dup (p.Glu1189ArgfsTer?)
c.319dup
n.88dup
n.319dup
c.2642dup
c.241dup
c.3615dup (p.Glu1206ArgfsTer?)
c.3150dup (p.Glu1051ArgfsTer?)
18g.23534474T>ACA401790919NPC1c.3563A>T (p.Glu1188Val)
c.318A>T
n.87A>T
n.318A>T
c.2641A>T
c.240A>T
c.3614A>T (p.Glu1205Val)
c.3149A>T (p.Glu1050Val)
18g.23534474T>CCA401790920NPC1c.3563A>G (p.Glu1188Gly)
c.318A>G
n.87A>G
n.318A>G
c.2641A>G
c.240A>G
c.3614A>G (p.Glu1205Gly)
c.3149A>G (p.Glu1050Gly)
18g.23534474T>GCA401790921NPC1c.3563A>C (p.Glu1188Ala)
c.318A>C
n.87A>C
n.318A>C
c.2641A>C
c.240A>C
c.3614A>C (p.Glu1205Ala)
c.3149A>C (p.Glu1050Ala)
18g.23534474_23534475delCA913014980NPC1c.3562_3563del (p.Glu1188ArgfsTer?)
c.317_318del
n.86_87del
n.317_318del
c.2640_2641del
c.239_240del
c.3613_3614del (p.Glu1205ArgfsTer?)
c.3148_3149del (p.Glu1050ArgfsTer?)
18g.23534474_23534475delinsTCCA2290163323NPC1c.3562_3563delinsGA (p.Glu1188=)
c.317_318delinsGA
n.86_87delinsGA
n.317_318delinsGA
c.2640_2641delinsGA
c.239_240delinsGA
c.3613_3614delinsGA (p.Glu1205=)
c.3148_3149delinsGA (p.Glu1050=)
18g.23534477_23534485dupCA658824811NPC1c.3555_3563dup (p.Glu1188_Glu1189insArgAlaGlu)
c.310_318dup
n.79_87dup
n.310_318dup
c.2633_2641dup
c.232_240dup
c.3606_3614dup (p.Glu1205_Glu1206insArgAlaGlu)
c.3141_3149dup (p.Glu1050_Glu1051insArgAlaGlu)
 ClinVar dbSNP
18g.23534475C>ACA8912728NPC1c.3562G>T (p.Glu1188Ter)
c.317G>T
n.86G>T
n.317G>T
c.2640G>T
c.239G>T
c.3613G>T (p.Glu1205Ter)
c.3148G>T (p.Glu1050Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23534475C=CA2290163324NPC1c.3562G= (p.Glu1188=)
c.317G=
n.86G=
n.317G=
c.2640G=
c.239G=
c.3613G= (p.Glu1205=)
c.3148G= (p.Glu1050=)
18g.23534475C>GCA401790922NPC1c.3562G>C (p.Glu1188Gln)
c.317G>C
n.86G>C
n.317G>C
c.2640G>C
c.239G>C
c.3613G>C (p.Glu1205Gln)
c.3148G>C (p.Glu1050Gln)
 ClinVar dbSNP gnomAD v2
18g.23534475C>TCA401790923NPC1c.3562G>A (p.Glu1188Lys)
c.317G>A
n.86G>A
n.317G>A
c.2640G>A
c.239G>A
c.3613G>A (p.Glu1205Lys)
c.3148G>A (p.Glu1050Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23534476delCA8912727NPC1c.3562del (p.Glu1188LysfsTer?)
c.317del
n.86del
n.317del
c.2640del
c.239del
c.3613del (p.Glu1205LysfsTer?)
c.3148del (p.Glu1050LysfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23534476C>ACA206003NPC1c.3561G>T (p.Ala1187=)
c.316G>T
n.85G>T
n.316G>T
c.2639G>T
c.238G>T
c.3612G>T (p.Ala1204=)
c.3147G>T (p.Ala1049=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23534476C=CA2290163325NPC1c.3561G= (p.Ala1187=)
c.316G=
n.85G=
n.316G=
c.2639G=
c.238G=
c.3612G= (p.Ala1204=)
c.3147G= (p.Ala1049=)
18g.23534476C>GCA503322123NPC1c.3561G>C (p.Ala1187=)
c.316G>C
n.85G>C
n.316G>C
c.2639G>C
c.238G>C
c.3612G>C (p.Ala1204=)
c.3147G>C (p.Ala1049=)
18g.23534476C>TCA8912729NPC1c.3561G>A (p.Ala1187=)
c.316G>A
n.85G>A
n.316G>A
c.2639G>A
c.238G>A
c.3612G>A (p.Ala1204=)
c.3147G>A (p.Ala1049=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23534481_23534482delCA2576470696NPC1c.3560_3561del (p.Ala1187GlyfsTer?)
c.315_316del
n.84_85del
n.315_316del
c.2638_2639del
c.237_238del
c.3611_3612del (p.Ala1204GlyfsTer?)
c.3146_3147del (p.Ala1049GlyfsTer?)
18g.23534477G>ACA8912730NPC1c.3560C>T (p.Ala1187Val)
c.315C>T
n.84C>T
n.315C>T
c.2638C>T
c.237C>T
c.3611C>T (p.Ala1204Val)
c.3146C>T (p.Ala1049Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23534477G>CCA16043538NPC1c.3560C>G (p.Ala1187Gly)
c.315C>G
n.84C>G
n.315C>G
c.2638C>G
c.237C>G
c.3611C>G (p.Ala1204Gly)
c.3146C>G (p.Ala1049Gly)
 ClinVar dbSNP
18g.23534477G=CA2290163326NPC1c.3560C= (p.Ala1187=)
c.315C=
n.84C=
n.315C=
c.2638C=
c.237C=
c.3611C= (p.Ala1204=)
c.3146C= (p.Ala1049=)
18g.23534477G>TCA401790924NPC1c.3560C>A (p.Ala1187Glu)
c.315C>A
n.84C>A
n.315C>A
c.2638C>A
c.237C>A
c.3611C>A (p.Ala1204Glu)
c.3146C>A (p.Ala1049Glu)
18g.23534478delCA2580095522NPC1c.3559del (p.Ala1187ArgfsTer?)
c.314del
n.83del
n.314del
c.2637del
c.236del
c.3610del (p.Ala1204ArgfsTer?)
c.3145del (p.Ala1049ArgfsTer?)
 ClinVar
18g.23534478C>ACA401790925NPC1c.3559G>T (p.Ala1187Ser)
c.314G>T
n.83G>T
n.314G>T
c.2637G>T
c.236G>T
c.3610G>T (p.Ala1204Ser)
c.3145G>T (p.Ala1049Ser)
18g.23534478C=CA2290163327NPC1c.3559G= (p.Ala1187=)
c.314G=
n.83G=
n.314G=
c.2637G=
c.236G=
c.3610G= (p.Ala1204=)
c.3145G= (p.Ala1049=)
18g.23534478C>GCA401790926NPC1c.3559G>C (p.Ala1187Pro)
c.314G>C
n.83G>C
n.314G>C
c.2637G>C
c.236G>C
c.3610G>C (p.Ala1204Pro)
c.3145G>C (p.Ala1049Pro)
18g.23534478C>TCA8912731NPC1c.3559G>A (p.Ala1187Thr)
c.314G>A
n.83G>A
n.314G>A
c.2637G>A
c.236G>A
c.3610G>A (p.Ala1204Thr)
c.3145G>A (p.Ala1049Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23534479delCA2695227421NPC1c.3558del (p.Ala1187ArgfsTer?)
c.313del
n.82del
n.313del
c.2636del
c.235del
c.3609del (p.Ala1204ArgfsTer?)
c.3144del (p.Ala1049ArgfsTer?)
18g.23534479G>ACA8912732NPC1c.3558C>T (p.Arg1186=)
c.313C>T
n.82C>T
n.313C>T
c.2636C>T
c.235C>T
c.3609C>T (p.Arg1203=)
c.3144C>T (p.Arg1048=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23534479G>CCA8912733NPC1c.3558C>G (p.Arg1186=)
c.313C>G
n.82C>G
n.313C>G
c.2636C>G
c.235C>G
c.3609C>G (p.Arg1203=)
c.3144C>G (p.Arg1048=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23534479G=CA2290163328NPC1c.3558C= (p.Arg1186=)
c.313C=
n.82C=
n.313C=
c.2636C=
c.235C=
c.3609C= (p.Arg1203=)
c.3144C= (p.Arg1048=)
18g.23534479G>TCA503322124NPC1c.3558C>A (p.Arg1186=)
c.313C>A
n.82C>A
n.313C>A
c.2636C>A
c.235C>A
c.3609C>A (p.Arg1203=)
c.3144C>A (p.Arg1048=)
18g.23534480C>ACA401790927NPC1c.3557G>T (p.Arg1186Leu)
c.312G>T
n.81G>T
n.312G>T
c.2635G>T
c.234G>T
c.3608G>T (p.Arg1203Leu)
c.3143G>T (p.Arg1048Leu)
 ClinVar
18g.23534480C=CA2290163329NPC1c.3557G= (p.Arg1186=)
c.312G=
n.81G=
n.312G=
c.2635G=
c.234G=
c.3608G= (p.Arg1203=)
c.3143G= (p.Arg1048=)
18g.23534480C>GCA401790928NPC1c.3557G>C (p.Arg1186Pro)
c.312G>C
n.81G>C
n.312G>C
c.2635G>C
c.234G>C
c.3608G>C (p.Arg1203Pro)
c.3143G>C (p.Arg1048Pro)
18g.23534480C>TCA274457NPC1c.3557G>A (p.Arg1186His)
c.312G>A
n.81G>A
n.312G>A
c.2635G>A
c.234G>A
c.3608G>A (p.Arg1203His)
c.3143G>A (p.Arg1048His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23534481_23534484delCA2695227422NPC1c.3554_3557del (p.Glu1185AlafsTer?)
c.309_312del
n.78_81del
n.309_312del
c.2632_2635del
c.231_234del
c.3605_3608del (p.Glu1202AlafsTer?)
c.3140_3143del (p.Glu1047AlafsTer?)
18g.23534481G>ACA8912734NPC1c.3556C>T (p.Arg1186Cys)
c.311C>T
n.80C>T
n.311C>T
c.2634C>T
c.233C>T
c.3607C>T (p.Arg1203Cys)
c.3142C>T (p.Arg1048Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23534481G>CCA401790929NPC1c.3556C>G (p.Arg1186Gly)
c.311C>G
n.80C>G
n.311C>G
c.2634C>G
c.233C>G
c.3607C>G (p.Arg1203Gly)
c.3142C>G (p.Arg1048Gly)
18g.23534481G=CA2290163330NPC1c.3556C= (p.Arg1186=)
c.311C=
n.80C=
n.311C=
c.2634C=
c.233C=
c.3607C= (p.Arg1203=)
c.3142C= (p.Arg1048=)
18g.23534481G>TCA401790930NPC1c.3556C>A (p.Arg1186Ser)
c.311C>A
n.80C>A
n.311C>A
c.2634C>A
c.233C>A
c.3607C>A (p.Arg1203Ser)
c.3142C>A (p.Arg1048Ser)
18g.23534482C>ACA401790931NPC1c.3555G>T (p.Glu1185Asp)
c.310G>T
n.79G>T
n.310G>T
c.2633G>T
c.232G>T
c.3606G>T (p.Glu1202Asp)
c.3141G>T (p.Glu1047Asp)
 dbSNP gnomAD v4
18g.23534482C=CA2290163331NPC1c.3555G= (p.Glu1185=)
c.310G=
n.79G=
n.310G=
c.2633G=
c.232G=
c.3606G= (p.Glu1202=)
c.3141G= (p.Glu1047=)
18g.23534482C>GCA401790932NPC1c.3555G>C (p.Glu1185Asp)
c.310G>C
n.79G>C
n.310G>C
c.2633G>C
c.232G>C
c.3606G>C (p.Glu1202Asp)
c.3141G>C (p.Glu1047Asp)
18g.23534482C>TCA503322125NPC1c.3555G>A (p.Glu1185=)
c.310G>A
n.79G>A
n.310G>A
c.2633G>A
c.232G>A
c.3606G>A (p.Glu1202=)
c.3141G>A (p.Glu1047=)
18g.23534483T>ACA401790935NPC1c.3554A>T (p.Glu1185Val)
c.309A>T
n.78A>T
n.309A>T
c.2632A>T
c.231A>T
c.3605A>T (p.Glu1202Val)
c.3140A>T (p.Glu1047Val)
18g.23534483T>CCA401790933NPC1c.3554A>G (p.Glu1185Gly)
c.309A>G
n.78A>G
n.309A>G
c.2632A>G
c.231A>G
c.3605A>G (p.Glu1202Gly)
c.3140A>G (p.Glu1047Gly)
18g.23534483T>GCA401790934NPC1c.3554A>C (p.Glu1185Ala)
c.309A>C
n.78A>C
n.309A>C
c.2632A>C
c.231A>C
c.3605A>C (p.Glu1202Ala)
c.3140A>C (p.Glu1047Ala)
18g.23534484C>ACA401790936NPC1c.3553G>T (p.Glu1185Ter)
c.308G>T
n.77G>T
n.308G>T
c.2631G>T
c.230G>T
c.3604G>T (p.Glu1202Ter)
c.3139G>T (p.Glu1047Ter)
 ClinVar
18g.23534484C=CA2290163332NPC1c.3553G= (p.Glu1185=)
c.308G=
n.77G=
n.308G=
c.2631G=
c.230G=
c.3604G= (p.Glu1202=)
c.3139G= (p.Glu1047=)
18g.23534484C>GCA401790937NPC1c.3553G>C (p.Glu1185Gln)
c.308G>C
n.77G>C
n.308G>C
c.2631G>C
c.230G>C
c.3604G>C (p.Glu1202Gln)
c.3139G>C (p.Glu1047Gln)
 gnomAD v4
18g.23534484C>TCA8912735NPC1c.3553G>A (p.Glu1185Lys)
c.308G>A
n.77G>A
n.308G>A
c.2631G>A
c.230G>A
c.3604G>A (p.Glu1202Lys)
c.3139G>A (p.Glu1047Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23534485C>ACA503322126NPC1c.3552G>T (p.Val1184=)
c.307G>T
n.76G>T
n.307G>T
c.2630G>T
c.229G>T
c.3603G>T (p.Val1201=)
c.3138G>T (p.Val1046=)
18g.23534485C>GCA503322127NPC1c.3552G>C (p.Val1184=)
c.307G>C
n.76G>C
n.307G>C
c.2630G>C
c.229G>C
c.3603G>C (p.Val1201=)
c.3138G>C (p.Val1046=)
 gnomAD v4
18g.23534485C>TCA503322129NPC1c.3552G>A (p.Val1184=)
c.307G>A
n.76G>A
n.307G>A
c.2630G>A
c.229G>A
c.3603G>A (p.Val1201=)
c.3138G>A (p.Val1046=)
18g.23534486A>CCA401790938NPC1c.3551T>G (p.Val1184Gly)
c.306T>G
n.75T>G
n.306T>G
c.2629T>G
c.228T>G
c.3602T>G (p.Val1201Gly)
c.3137T>G (p.Val1046Gly)
18g.23534486A>GCA401790939NPC1c.3551T>C (p.Val1184Ala)
c.306T>C
n.75T>C
n.306T>C
c.2629T>C
c.228T>C
c.3602T>C (p.Val1201Ala)
c.3137T>C (p.Val1046Ala)
18g.23534486A>TCA401790940NPC1c.3551T>A (p.Val1184Glu)
c.306T>A
n.75T>A
n.306T>A
c.2629T>A
c.228T>A
c.3602T>A (p.Val1201Glu)
c.3137T>A (p.Val1046Glu)
18g.23534487C>ACA401790941NPC1c.3550G>T (p.Val1184Leu)
c.305G>T
n.74G>T
n.305G>T
c.2628G>T
c.227G>T
c.3601G>T (p.Val1201Leu)
c.3136G>T (p.Val1046Leu)
18g.23534487C=CA2290163333NPC1c.3550G= (p.Val1184=)
c.305G=
n.74G=
n.305G=
c.2628G=
c.227G=
c.3601G= (p.Val1201=)
c.3136G= (p.Val1046=)
18g.23534487C>GCA401790942NPC1c.3550G>C (p.Val1184Leu)
c.305G>C
n.74G>C
n.305G>C
c.2628G>C
c.227G>C
c.3601G>C (p.Val1201Leu)
c.3136G>C (p.Val1046Leu)
18g.23534487C>TCA8912736NPC1c.3550G>A (p.Val1184Met)
c.305G>A
n.74G>A
n.305G>A
c.2628G>A
c.227G>A
c.3601G>A (p.Val1201Met)
c.3136G>A (p.Val1046Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23534488G>ACA8912737NPC1c.3549C>T (p.Arg1183=)
c.304C>T
n.73C>T
n.304C>T
c.2627C>T
c.226C>T
c.3600C>T (p.Arg1200=)
c.3135C>T (p.Arg1045=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23534488G>CCA503322133NPC1c.3549C>G (p.Arg1183=)
c.304C>G
n.73C>G
n.304C>G
c.2627C>G
c.226C>G
c.3600C>G (p.Arg1200=)
c.3135C>G (p.Arg1045=)
18g.23534488G=CA2290163334NPC1c.3549C= (p.Arg1183=)
c.304C=
n.73C=
n.304C=
c.2627C=
c.226C=
c.3600C= (p.Arg1200=)
c.3135C= (p.Arg1045=)
18g.23534488G>TCA503322134NPC1c.3549C>A (p.Arg1183=)
c.304C>A
n.73C>A
n.304C>A
c.2627C>A
c.226C>A
c.3600C>A (p.Arg1200=)
c.3135C>A (p.Arg1045=)
18g.23534489C>ACA401790943NPC1c.3548G>T (p.Arg1183Leu)
c.303G>T
n.72G>T
n.303G>T
c.2626G>T
c.225G>T
c.3599G>T (p.Arg1200Leu)
c.3134G>T (p.Arg1045Leu)
18g.23534489C=CA2290163335NPC1c.3548G= (p.Arg1183=)
c.303G=
n.72G=
n.303G=
c.2626G=
c.225G=
c.3599G= (p.Arg1200=)
c.3134G= (p.Arg1045=)
18g.23534489C>GCA401790944NPC1c.3548G>C (p.Arg1183Pro)
c.303G>C
n.72G>C
n.303G>C
c.2626G>C
c.225G>C
c.3599G>C (p.Arg1200Pro)
c.3134G>C (p.Arg1045Pro)
18g.23534489C>TCA8912738NPC1c.3548G>A (p.Arg1183His)
c.303G>A
n.72G>A
n.303G>A
c.2626G>A
c.225G>A
c.3599G>A (p.Arg1200His)
c.3134G>A (p.Arg1045His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23534490G>ACA8912740NPC1c.3547C>T (p.Arg1183Cys)
c.302C>T
n.71C>T
n.302C>T
c.2625C>T
c.224C>T
c.3598C>T (p.Arg1200Cys)
c.3133C>T (p.Arg1045Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23534490G>CCA401790945NPC1c.3547C>G (p.Arg1183Gly)
c.302C>G
n.71C>G
n.302C>G
c.2625C>G
c.224C>G
c.3598C>G (p.Arg1200Gly)
c.3133C>G (p.Arg1045Gly)
18g.23534490G=CA2290163336NPC1c.3547C= (p.Arg1183=)
c.302C=
n.71C=
n.302C=
c.2625C=
c.224C=
c.3598C= (p.Arg1200=)
c.3133C= (p.Arg1045=)
18g.23534490G>TCA8912739NPC1c.3547C>A (p.Arg1183Ser)
c.302C>A
n.71C>A
n.302C>A
c.2625C>A
c.224C>A
c.3598C>A (p.Arg1200Ser)
c.3133C>A (p.Arg1045Ser)
 dbSNP ExAC gnomAD v4
18g.23534491G>ACA503322136NPC1c.3546C>T (p.Ser1182=)
c.301C>T
n.70C>T
n.301C>T
c.2624C>T
c.223C>T
c.3597C>T (p.Ser1199=)
c.3132C>T (p.Ser1044=)
 gnomAD v4
18g.23534491G>CCA401790946NPC1c.3546C>G (p.Ser1182Arg)
c.301C>G
n.70C>G
n.301C>G
c.2624C>G
c.223C>G
c.3597C>G (p.Ser1199Arg)
c.3132C>G (p.Ser1044Arg)
18g.23534491G>TCA401790947NPC1c.3546C>A (p.Ser1182Arg)
c.301C>A
n.70C>A
n.301C>A
c.2624C>A
c.223C>A
c.3597C>A (p.Ser1199Arg)
c.3132C>A (p.Ser1044Arg)
18g.23534492C>ACA401790948NPC1c.3545G>T (p.Ser1182Ile)
c.300G>T
n.69G>T
n.300G>T
c.2623G>T
c.222G>T
c.3596G>T (p.Ser1199Ile)
c.3131G>T (p.Ser1044Ile)
18g.23534492C=CA2290163337NPC1c.3545G= (p.Ser1182=)
c.300G=
n.69G=
n.300G=
c.2623G=
c.222G=
c.3596G= (p.Ser1199=)
c.3131G= (p.Ser1044=)
18g.23534492C>GCA401790949NPC1c.3545G>C (p.Ser1182Thr)
c.300G>C
n.69G>C
n.300G>C
c.2623G>C
c.222G>C
c.3596G>C (p.Ser1199Thr)
c.3131G>C (p.Ser1044Thr)
18g.23534492C>TCA401790950NPC1c.3545G>A (p.Ser1182Asn)
c.300G>A
n.69G>A
n.300G>A
c.2623G>A
c.222G>A
c.3596G>A (p.Ser1199Asn)
c.3131G>A (p.Ser1044Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23534493T>ACA401790951NPC1c.3544A>T (p.Ser1182Cys)
c.299A>T
n.68A>T
n.299A>T
c.2622A>T
c.221A>T
c.3595A>T (p.Ser1199Cys)
c.3130A>T (p.Ser1044Cys)
18g.23534493T>CCA401790952NPC1c.3544A>G (p.Ser1182Gly)
c.299A>G
n.68A>G
n.299A>G
c.2622A>G
c.221A>G
c.3595A>G (p.Ser1199Gly)
c.3130A>G (p.Ser1044Gly)
18g.23534493T>GCA401790953NPC1c.3544A>C (p.Ser1182Arg)
c.299A>C
n.68A>C
n.299A>C
c.2622A>C
c.221A>C
c.3595A>C (p.Ser1199Arg)
c.3130A>C (p.Ser1044Arg)
18g.23534494delCA2641278135NPC1c.3543del (p.Ser1182AlafsTer?)
c.298del
n.67del
n.298del
c.2621del
c.220del
c.3594del (p.Ser1199AlafsTer?)
c.3129del (p.Ser1044AlafsTer?)
 gnomAD v4
18g.23534494G>ACA503322138NPC1c.3543C>T (p.Gly1181=)
c.298C>T
n.67C>T
n.298C>T
c.2621C>T
c.220C>T
c.3594C>T (p.Gly1198=)
c.3129C>T (p.Gly1043=)
18g.23534494G>CCA503322139NPC1c.3543C>G (p.Gly1181=)
c.298C>G
n.67C>G
n.298C>G
c.2621C>G
c.220C>G
c.3594C>G (p.Gly1198=)
c.3129C>G (p.Gly1043=)
18g.23534494G>TCA503322140NPC1c.3543C>A (p.Gly1181=)
c.298C>A
n.67C>A
n.298C>A
c.2621C>A
c.220C>A
c.3594C>A (p.Gly1198=)
c.3129C>A (p.Gly1043=)
 ClinVar
18g.23534495C>ACA401790955NPC1c.3542G>T (p.Gly1181Val)
c.297G>T
n.66G>T
n.297G>T
c.2620G>T
c.219G>T
c.3593G>T (p.Gly1198Val)
c.3128G>T (p.Gly1043Val)
18g.23534495C=CA2290163338NPC1c.3542G= (p.Gly1181=)
c.297G=
n.66G=
n.297G=
c.2620G=
c.219G=
c.3593G= (p.Gly1198=)
c.3128G= (p.Gly1043=)
18g.23534495C>GCA401790956NPC1c.3542G>C (p.Gly1181Ala)
c.297G>C
n.66G>C
n.297G>C
c.2620G>C
c.219G>C
c.3593G>C (p.Gly1198Ala)
c.3128G>C (p.Gly1043Ala)
18g.23534495C>TCA401790954NPC1c.3542G>A (p.Gly1181Asp)
c.297G>A
n.66G>A
n.297G>A
c.2620G>A
c.219G>A
c.3593G>A (p.Gly1198Asp)
c.3128G>A (p.Gly1043Asp)
 dbSNP gnomAD v3 gnomAD v4
18g.23534496C>ACA401790957NPC1c.3541G>T (p.Gly1181Cys)
c.296G>T
n.65G>T
n.296G>T
c.2619G>T
c.218G>T
c.3592G>T (p.Gly1198Cys)
c.3127G>T (p.Gly1043Cys)
18g.23534496C=CA2290163339NPC1c.3541G= (p.Gly1181=)
c.296G=
n.65G=
n.296G=
c.2619G=
c.218G=
c.3592G= (p.Gly1198=)
c.3127G= (p.Gly1043=)
18g.23534496C>GCA401790958NPC1c.3541G>C (p.Gly1181Arg)
c.296G>C
n.65G>C
n.296G>C
c.2619G>C
c.218G>C
c.3592G>C (p.Gly1198Arg)
c.3127G>C (p.Gly1043Arg)
18g.23534496C>TCA401790959NPC1c.3541G>A (p.Gly1181Ser)
c.296G>A
n.65G>A
n.296G>A
c.2619G>A
c.218G>A
c.3592G>A (p.Gly1198Ser)
c.3127G>A (p.Gly1043Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.23534497T>ACA401790960NPC1c.3540A>T (p.Lys1180Asn)
c.295A>T
n.64A>T
n.295A>T
c.2618A>T
c.217A>T
c.3591A>T (p.Lys1197Asn)
c.3126A>T (p.Lys1042Asn)
18g.23534497T>CCA503322141NPC1c.3540A>G (p.Lys1180=)
c.295A>G
n.64A>G
n.295A>G
c.2618A>G
c.217A>G
c.3591A>G (p.Lys1197=)
c.3126A>G (p.Lys1042=)
18g.23534497T>GCA401790961NPC1c.3540A>C (p.Lys1180Asn)
c.295A>C
n.64A>C
n.295A>C
c.2618A>C
c.217A>C
c.3591A>C (p.Lys1197Asn)
c.3126A>C (p.Lys1042Asn)
18g.23534499delCA2739268566NPC1c.3540del (p.Gly1181AlafsTer?)
c.295del
n.64del
n.295del
c.2618del
c.217del
c.3591del (p.Gly1198AlafsTer?)
c.3126del (p.Gly1043AlafsTer?)
 ClinVar
18g.23534498T>ACA401790964NPC1c.3539A>T (p.Lys1180Ile)
c.294A>T
n.63A>T
n.294A>T
c.2617A>T
c.216A>T
c.3590A>T (p.Lys1197Ile)
c.3125A>T (p.Lys1042Ile)
18g.23534498T>CCA401790962NPC1c.3539A>G (p.Lys1180Arg)
c.294A>G
n.63A>G
n.294A>G
c.2617A>G
c.216A>G
c.3590A>G (p.Lys1197Arg)
c.3125A>G (p.Lys1042Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23534498T>GCA401790963NPC1c.3539A>C (p.Lys1180Thr)
c.294A>C
n.63A>C
n.294A>C
c.2617A>C
c.216A>C
c.3590A>C (p.Lys1197Thr)
c.3125A>C (p.Lys1042Thr)
18g.23534498T=CA2290163340NPC1c.3539A= (p.Lys1180=)
c.294A=
n.63A=
n.294A=
c.2617A=
c.216A=
c.3590A= (p.Lys1197=)
c.3125A= (p.Lys1042=)
18g.23534498_23534502delinsTTCATCA2290163341NPC1c.3535_3539delinsATGAA (p.Met1179=)
c.290_294delinsATGAA
n.59_63delinsATGAA
n.290_294delinsATGAA
c.2613_2617delinsATGAA
c.212_216delinsATGAA
c.3586_3590delinsATGAA (p.Met1196=)
c.3121_3125delinsATGAA (p.Met1041=)
18g.23534499T>ACA401790965NPC1c.3538A>T (p.Lys1180Ter)
c.293A>T
n.62A>T
n.293A>T
c.2616A>T
c.215A>T
c.3589A>T (p.Lys1197Ter)
c.3124A>T (p.Lys1042Ter)
18g.23534499T>CCA401790966NPC1c.3538A>G (p.Lys1180Glu)
c.293A>G
n.62A>G
n.293A>G
c.2616A>G
c.215A>G
c.3589A>G (p.Lys1197Glu)
c.3124A>G (p.Lys1042Glu)
 gnomAD v4
18g.23534499T>GCA401790967NPC1c.3538A>C (p.Lys1180Gln)
c.293A>C
n.62A>C
n.293A>C
c.2616A>C
c.215A>C
c.3589A>C (p.Lys1197Gln)
c.3124A>C (p.Lys1042Gln)
18g.23534499_23534502delinsAAACA658824812NPC1c.3535_3538delinsTTT (p.Met1179PhefsTer?)
c.290_293delinsTTT
n.59_62delinsTTT
n.290_293delinsTTT
c.2613_2616delinsTTT
c.212_215delinsTTT
c.3586_3589delinsTTT (p.Met1196PhefsTer?)
c.3121_3124delinsTTT (p.Met1041PhefsTer?)
 ClinVar dbSNP
18g.23534500C>ACA401790968NPC1c.3537G>T (p.Met1179Ile)
c.292G>T
n.61G>T
n.292G>T
c.2615G>T
c.214G>T
c.3588G>T (p.Met1196Ile)
c.3123G>T (p.Met1041Ile)
18g.23534500C>GCA401790969NPC1c.3537G>C (p.Met1179Ile)
c.292G>C
n.61G>C
n.292G>C
c.2615G>C
c.214G>C
c.3588G>C (p.Met1196Ile)
c.3123G>C (p.Met1041Ile)
18g.23534500C>TCA401790970NPC1c.3537G>A (p.Met1179Ile)
c.292G>A
n.61G>A
n.292G>A
c.2615G>A
c.214G>A
c.3588G>A (p.Met1196Ile)
c.3123G>A (p.Met1041Ile)
18g.23534501A=CA2290163342NPC1c.3536T= (p.Met1179=)
c.291T=
n.60T=
n.291T=
c.2614T=
c.213T=
c.3587T= (p.Met1196=)
c.3122T= (p.Met1041=)
18g.23534501A>CCA401790972NPC1c.3536T>G (p.Met1179Arg)
c.291T>G
n.60T>G
n.291T>G
c.2614T>G
c.213T>G
c.3587T>G (p.Met1196Arg)
c.3122T>G (p.Met1041Arg)
18g.23534501A>GCA401790973NPC1c.3536T>C (p.Met1179Thr)
c.291T>C
n.60T>C
n.291T>C
c.2614T>C
c.213T>C
c.3587T>C (p.Met1196Thr)
c.3122T>C (p.Met1041Thr)
 ClinVar dbSNP gnomAD v4
18g.23534501A>TCA401790971NPC1c.3536T>A (p.Met1179Lys)
c.291T>A
n.60T>A
n.291T>A
c.2614T>A
c.213T>A
c.3587T>A (p.Met1196Lys)
c.3122T>A (p.Met1041Lys)
18g.23534502T>ACA401790974NPC1c.3535A>T (p.Met1179Leu)
c.290A>T
n.59A>T
n.290A>T
c.2613A>T
c.212A>T
c.3586A>T (p.Met1196Leu)
c.3121A>T (p.Met1041Leu)
18g.23534502T>CCA145966NPC1c.3535A>G (p.Met1179Val)
c.290A>G
n.59A>G
n.290A>G
c.2613A>G
c.212A>G
c.3586A>G (p.Met1196Val)
c.3121A>G (p.Met1041Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23534502T>GCA401790975NPC1c.3535A>C (p.Met1179Leu)
c.290A>C
n.59A>C
n.290A>C
c.2613A>C
c.212A>C
c.3586A>C (p.Met1196Leu)
c.3121A>C (p.Met1041Leu)
18g.23534502T=CA2290163343NPC1c.3535A= (p.Met1179=)
c.290A=
n.59A=
n.290A=
c.2613A=
c.212A=
c.3586A= (p.Met1196=)
c.3121A= (p.Met1041=)
18g.23534503G>ACA503322143NPC1c.3534C>T (p.Ser1178=)
c.289C>T
n.58C>T
n.289C>T
c.2612C>T
c.211C>T
c.3585C>T (p.Ser1195=)
c.3120C>T (p.Ser1040=)
18g.23534503G>CCA401790976NPC1c.3534C>G (p.Ser1178Arg)
c.289C>G
n.58C>G
n.289C>G
c.2612C>G
c.211C>G
c.3585C>G (p.Ser1195Arg)
c.3120C>G (p.Ser1040Arg)
18g.23534503G>TCA401790977NPC1c.3534C>A (p.Ser1178Arg)
c.289C>A
n.58C>A
n.289C>A
c.2612C>A
c.211C>A
c.3585C>A (p.Ser1195Arg)
c.3120C>A (p.Ser1040Arg)
18g.23534504C>ACA401790980NPC1c.3533G>T (p.Ser1178Ile)
c.288G>T
n.57G>T
n.288G>T
c.2611G>T
c.210G>T
c.3584G>T (p.Ser1195Ile)
c.3119G>T (p.Ser1040Ile)
18g.23534504C>GCA401790979NPC1c.3533G>C (p.Ser1178Thr)
c.288G>C
n.57G>C
n.288G>C
c.2611G>C
c.210G>C
c.3584G>C (p.Ser1195Thr)
c.3119G>C (p.Ser1040Thr)
18g.23534504C>TCA401790978NPC1c.3533G>A (p.Ser1178Asn)
c.288G>A
n.57G>A
n.288G>A
c.2611G>A
c.210G>A
c.3584G>A (p.Ser1195Asn)
c.3119G>A (p.Ser1040Asn)
 gnomAD v4
18g.23534505T>ACA401790981NPC1c.3532A>T (p.Ser1178Cys)
c.287A>T
n.56A>T
n.287A>T
c.2610A>T
c.209A>T
c.3583A>T (p.Ser1195Cys)
c.3118A>T (p.Ser1040Cys)
18g.23534505T>CCA401790982NPC1c.3532A>G (p.Ser1178Gly)
c.287A>G
n.56A>G
n.287A>G
c.2610A>G
c.209A>G
c.3583A>G (p.Ser1195Gly)
c.3118A>G (p.Ser1040Gly)
 dbSNP gnomAD v3 gnomAD v4
18g.23534505T>GCA401790983NPC1c.3532A>C (p.Ser1178Arg)
c.287A>C
n.56A>C
n.287A>C
c.2610A>C
c.209A>C
c.3583A>C (p.Ser1195Arg)
c.3118A>C (p.Ser1040Arg)
18g.23534505T=CA2290163344NPC1c.3532A= (p.Ser1178=)
c.287A=
n.56A=
n.287A=
c.2610A=
c.209A=
c.3583A= (p.Ser1195=)
c.3118A= (p.Ser1040=)
18g.23534506C>ACA503322144NPC1c.3531G>T (p.Val1177=)
c.286G>T
n.55G>T
n.286G>T
c.2609G>T
c.208G>T
c.3582G>T (p.Val1194=)
c.3117G>T (p.Val1039=)
 dbSNP
18g.23534506C=CA2290163345NPC1c.3531G= (p.Val1177=)
c.286G=
n.55G=
n.286G=
c.2609G=
c.208G=
c.3582G= (p.Val1194=)
c.3117G= (p.Val1039=)
18g.23534506C>GCA503322145NPC1c.3531G>C (p.Val1177=)
c.286G>C
n.55G>C
n.286G>C
c.2609G>C
c.208G>C
c.3582G>C (p.Val1194=)
c.3117G>C (p.Val1039=)
18g.23534506C>TCA8912741NPC1c.3531G>A (p.Val1177=)
c.286G>A
n.55G>A
n.286G>A
c.2609G>A
c.208G>A
c.3582G>A (p.Val1194=)
c.3117G>A (p.Val1039=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23534507A>CCA401790984NPC1c.3530T>G (p.Val1177Gly)
c.285T>G
n.54T>G
n.285T>G
c.2608T>G
c.207T>G
c.3581T>G (p.Val1194Gly)
c.3116T>G (p.Val1039Gly)
18g.23534507A>GCA401790985NPC1c.3530T>C (p.Val1177Ala)
c.285T>C
n.54T>C
n.285T>C
c.2608T>C
c.207T>C
c.3581T>C (p.Val1194Ala)
c.3116T>C (p.Val1039Ala)
18g.23534507A>TCA401790986NPC1c.3530T>A (p.Val1177Glu)
c.285T>A
n.54T>A
n.285T>A
c.2608T>A
c.207T>A
c.3581T>A (p.Val1194Glu)
c.3116T>A (p.Val1039Glu)
18g.23534508C>ACA401790987NPC1c.3529G>T (p.Val1177Leu)
c.284G>T
n.53G>T
n.284G>T
c.2607G>T
c.206G>T
c.3580G>T (p.Val1194Leu)
c.3115G>T (p.Val1039Leu)
 dbSNP
18g.23534508C=CA2290163346NPC1c.3529G= (p.Val1177=)
c.284G=
n.53G=
n.284G=
c.2607G=
c.206G=
c.3580G= (p.Val1194=)
c.3115G= (p.Val1039=)
18g.23534508C>GCA401790989NPC1c.3529G>C (p.Val1177Leu)
c.284G>C
n.53G>C
n.284G>C
c.2607G>C
c.206G>C
c.3580G>C (p.Val1194Leu)
c.3115G>C (p.Val1039Leu)
18g.23534508C>TCA401790988NPC1c.3529G>A (p.Val1177Met)
c.284G>A
n.53G>A
n.284G>A
c.2607G>A
c.206G>A
c.3580G>A (p.Val1194Met)
c.3115G>A (p.Val1039Met)
 gnomAD v4
18g.23534509C>ACA503322147NPC1c.3528G>T (p.Thr1176=)
c.283G>T
n.52G>T
n.283G>T
c.2606G>T
c.205G>T
c.3579G>T (p.Thr1193=)
c.3114G>T (p.Thr1038=)
18g.23534509C=CA2290163347NPC1c.3528G= (p.Thr1176=)
c.283G=
n.52G=
n.283G=
c.2606G=
c.205G=
c.3579G= (p.Thr1193=)
c.3114G= (p.Thr1038=)
18g.23534509C>GCA503322146NPC1c.3528G>C (p.Thr1176=)
c.283G>C
n.52G>C
n.283G>C
c.2606G>C
c.205G>C
c.3579G>C (p.Thr1193=)
c.3114G>C (p.Thr1038=)
 dbSNP gnomAD v2 gnomAD v4
18g.23534509C>TCA242285NPC1c.3528G>A (p.Thr1176=)
c.283G>A
n.52G>A
n.283G>A
c.2606G>A
c.205G>A
c.3579G>A (p.Thr1193=)
c.3114G>A (p.Thr1038=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23534510G>ACA8912742NPC1c.3527C>T (p.Thr1176Met)
c.282C>T
n.51C>T
n.282C>T
c.2605C>T
c.204C>T
c.3578C>T (p.Thr1193Met)
c.3113C>T (p.Thr1038Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23534510G>CCA401790990NPC1c.3527C>G (p.Thr1176Arg)
c.282C>G
n.51C>G
n.282C>G
c.2605C>G
c.204C>G
c.3578C>G (p.Thr1193Arg)
c.3113C>G (p.Thr1038Arg)
18g.23534510G=CA2290163348NPC1c.3527C= (p.Thr1176=)
c.282C=
n.51C=
n.282C=
c.2605C=
c.204C=
c.3578C= (p.Thr1193=)
c.3113C= (p.Thr1038=)
18g.23534510G>TCA401790991NPC1c.3527C>A (p.Thr1176Lys)
c.282C>A
n.51C>A
n.282C>A
c.2605C>A
c.204C>A
c.3578C>A (p.Thr1193Lys)
c.3113C>A (p.Thr1038Lys)
18g.23534511T>ACA401790992NPC1c.3526A>T (p.Thr1176Ser)
c.281A>T
n.50A>T
n.281A>T
c.2604A>T
c.203A>T
c.3577A>T (p.Thr1193Ser)
c.3112A>T (p.Thr1038Ser)
18g.23534511T>CCA401790993NPC1c.3526A>G (p.Thr1176Ala)
c.281A>G
n.50A>G
n.281A>G
c.2604A>G
c.203A>G
c.3577A>G (p.Thr1193Ala)
c.3112A>G (p.Thr1038Ala)
18g.23534511T>GCA401790994NPC1c.3526A>C (p.Thr1176Pro)
c.281A>C
n.50A>C
n.281A>C
c.2604A>C
c.203A>C
c.3577A>C (p.Thr1193Pro)
c.3112A>C (p.Thr1038Pro)
18g.23534512_23534524delCA2641278143NPC1c.3514_3526del (p.Thr1172ArgfsTer2)
c.269_281del
n.38_50del
n.269_281del
c.2592_2604del
c.191_203del
c.3565_3577del (p.Thr1189ArgfsTer2)
c.3100_3112del (p.Thr1034ArgfsTer2)
 gnomAD v4
18g.23534512G>ACA503322148NPC1c.3525C>T (p.Phe1175=)
c.280C>T
n.49C>T
n.280C>T
c.2603C>T
c.202C>T
c.3576C>T (p.Phe1192=)
c.3111C>T (p.Phe1037=)
18g.23534512G>CCA401790995NPC1c.3525C>G (p.Phe1175Leu)
c.280C>G
n.49C>G
n.280C>G
c.2603C>G
c.202C>G
c.3576C>G (p.Phe1192Leu)
c.3111C>G (p.Phe1037Leu)
18g.23534512G=CA2290163349NPC1c.3525C= (p.Phe1175=)
c.280C=
n.49C=
n.280C=
c.2603C=
c.202C=
c.3576C= (p.Phe1192=)
c.3111C= (p.Phe1037=)
18g.23534512G>TCA401790996NPC1c.3525C>A (p.Phe1175Leu)
c.280C>A
n.49C>A
n.280C>A
c.2603C>A
c.202C>A
c.3576C>A (p.Phe1192Leu)
c.3111C>A (p.Phe1037Leu)
 ClinVar dbSNP
18g.23534513A>CCA401790997NPC1c.3524T>G (p.Phe1175Cys)
c.279T>G
n.48T>G
n.279T>G
c.2602T>G
c.201T>G
c.3575T>G (p.Phe1192Cys)
c.3110T>G (p.Phe1037Cys)
18g.23534513A>GCA401790998NPC1c.3524T>C (p.Phe1175Ser)
c.279T>C
n.48T>C
n.279T>C
c.2602T>C
c.201T>C
c.3575T>C (p.Phe1192Ser)
c.3110T>C (p.Phe1037Ser)
18g.23534513A>TCA401790999NPC1c.3524T>A (p.Phe1175Tyr)
c.279T>A
n.48T>A
n.279T>A
c.2602T>A
c.201T>A
c.3575T>A (p.Phe1192Tyr)
c.3110T>A (p.Phe1037Tyr)
 gnomAD v4
18g.23534514A>CCA401791000NPC1c.3523T>G (p.Phe1175Val)
c.278T>G
n.47T>G
n.278T>G
c.2601T>G
c.200T>G
c.3574T>G (p.Phe1192Val)
c.3109T>G (p.Phe1037Val)
18g.23534514A>GCA401791002NPC1c.3523T>C (p.Phe1175Leu)
c.278T>C
n.47T>C
n.278T>C
c.2601T>C
c.200T>C
c.3574T>C (p.Phe1192Leu)
c.3109T>C (p.Phe1037Leu)
18g.23534514A>TCA401791001NPC1c.3523T>A (p.Phe1175Ile)
c.278T>A
n.47T>A
n.278T>A
c.2601T>A
c.200T>A
c.3574T>A (p.Phe1192Ile)
c.3109T>A (p.Phe1037Ile)
18g.23534515C>ACA503322149NPC1c.3522G>T (p.Ala1174=)
c.277G>T
n.46G>T
n.277G>T
c.2600G>T
c.199G>T
c.3573G>T (p.Ala1191=)
c.3108G>T (p.Ala1036=)
18g.23534515C=CA2290163350NPC1c.3522G= (p.Ala1174=)
c.277G=
n.46G=
n.277G=
c.2600G=
c.199G=
c.3573G= (p.Ala1191=)
c.3108G= (p.Ala1036=)
18g.23534515C>GCA503322150NPC1c.3522G>C (p.Ala1174=)
c.277G>C
n.46G>C
n.277G>C
c.2600G>C
c.199G>C
c.3573G>C (p.Ala1191=)
c.3108G>C (p.Ala1036=)
18g.23534515C>TCA8912743NPC1c.3522G>A (p.Ala1174=)
c.277G>A
n.46G>A
n.277G>A
c.2600G>A
c.199G>A
c.3573G>A (p.Ala1191=)
c.3108G>A (p.Ala1036=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.23534516G>ACA297078678NPC1c.3521C>T (p.Ala1174Val)
c.276C>T
n.45C>T
n.276C>T
c.2599C>T
c.198C>T
c.3572C>T (p.Ala1191Val)
c.3107C>T (p.Ala1036Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23534516G>CCA401791003NPC1c.3521C>G (p.Ala1174Gly)
c.276C>G
n.45C>G
n.276C>G
c.2599C>G
c.198C>G
c.3572C>G (p.Ala1191Gly)
c.3107C>G (p.Ala1036Gly)
18g.23534516G=CA2290163351NPC1c.3521C= (p.Ala1174=)
c.276C=
n.45C=
n.276C=
c.2599C=
c.198C=
c.3572C= (p.Ala1191=)
c.3107C= (p.Ala1036=)
18g.23534516G>TCA401791004NPC1c.3521C>A (p.Ala1174Glu)
c.276C>A
n.45C>A
n.276C>A
c.2599C>A
c.198C>A
c.3572C>A (p.Ala1191Glu)
c.3107C>A (p.Ala1036Glu)
 COSMIC COSMIC
18g.23534517C>ACA401791005NPC1c.3520G>T (p.Ala1174Ser)
c.275G>T
n.44G>T
n.275G>T
c.2598G>T
c.197G>T
c.3571G>T (p.Ala1191Ser)
c.3106G>T (p.Ala1036Ser)
18g.23534517C>GCA401791006NPC1c.3520G>C (p.Ala1174Pro)
c.275G>C
n.44G>C
n.275G>C
c.2598G>C
c.197G>C
c.3571G>C (p.Ala1191Pro)
c.3106G>C (p.Ala1036Pro)
18g.23534517C>TCA401791007NPC1c.3520G>A (p.Ala1174Thr)
c.275G>A
n.44G>A
n.275G>A
c.2598G>A
c.197G>A
c.3571G>A (p.Ala1191Thr)
c.3106G>A (p.Ala1036Thr)
18g.23534518T>ACA401791008NPC1c.3519A>T (p.Arg1173Ser)
c.274A>T
n.43A>T
n.274A>T
c.2597A>T
c.196A>T
c.3570A>T (p.Arg1190Ser)
c.3105A>T (p.Arg1035Ser)
18g.23534518T>CCA8912744NPC1c.3519A>G (p.Arg1173=)
c.274A>G
n.43A>G
n.274A>G
c.2597A>G
c.196A>G
c.3570A>G (p.Arg1190=)
c.3105A>G (p.Arg1035=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23534518T>GCA401791009NPC1c.3519A>C (p.Arg1173Ser)
c.274A>C
n.43A>C
n.274A>C
c.2597A>C
c.196A>C
c.3570A>C (p.Arg1190Ser)
c.3105A>C (p.Arg1035Ser)
18g.23534518T=CA2290163352NPC1c.3519A= (p.Arg1173=)
c.274A=
n.43A=
n.274A=
c.2597A=
c.196A=
c.3570A= (p.Arg1190=)
c.3105A= (p.Arg1035=)
18g.23534519C>ACA401791010NPC1c.3518G>T (p.Arg1173Ile)
c.273G>T
n.42G>T
n.273G>T
c.2596G>T
c.195G>T
c.3569G>T (p.Arg1190Ile)
c.3104G>T (p.Arg1035Ile)
 gnomAD v4
18g.23534519C=CA2290163353NPC1c.3518G= (p.Arg1173=)
c.273G=
n.42G=
n.273G=
c.2596G=
c.195G=
c.3569G= (p.Arg1190=)
c.3104G= (p.Arg1035=)
18g.23534519C>GCA401791011NPC1c.3518G>C (p.Arg1173Thr)
c.273G>C
n.42G>C
n.273G>C
c.2596G>C
c.195G>C
c.3569G>C (p.Arg1190Thr)
c.3104G>C (p.Arg1035Thr)
18g.23534519C>TCA401791012NPC1c.3518G>A (p.Arg1173Lys)
c.273G>A
n.42G>A
n.273G>A
c.2596G>A
c.195G>A
c.3569G>A (p.Arg1190Lys)
c.3104G>A (p.Arg1035Lys)
18g.23534520T>ACA401791014NPC1c.3517A>T (p.Arg1173Ter)
c.272A>T
n.41A>T
n.272A>T
c.2595A>T
c.194A>T
c.3568A>T (p.Arg1190Ter)
c.3103A>T (p.Arg1035Ter)
18g.23534520T>CCA401791013NPC1c.3517A>G (p.Arg1173Gly)
c.272A>G
n.41A>G
n.272A>G
c.2595A>G
c.194A>G
c.3568A>G (p.Arg1190Gly)
c.3103A>G (p.Arg1035Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23534520T>GCA503322151NPC1c.3517A>C (p.Arg1173=)
c.272A>C
n.41A>C
n.272A>C
c.2595A>C
c.194A>C
c.3568A>C (p.Arg1190=)
c.3103A>C (p.Arg1035=)
 gnomAD v4
18g.23534520T=CA2290163354NPC1c.3517A= (p.Arg1173=)
c.272A=
n.41A=
n.272A=
c.2595A=
c.194A=
c.3568A= (p.Arg1190=)
c.3103A= (p.Arg1035=)
18g.23534520dupCA658658726NPC1c.3517dup (p.Arg1173LysfsTer?)
c.272dup
n.41dup
n.272dup
c.2595dup
c.194dup
c.3568dup (p.Arg1190LysfsTer?)
c.3103dup (p.Arg1035LysfsTer?)
 ClinVar dbSNP
18g.23534521G>ACA503322152NPC1c.3516C>T (p.Thr1172=)
c.271C>T
n.40C>T
n.271C>T
c.2594C>T
c.193C>T
c.3567C>T (p.Thr1189=)
c.3102C>T (p.Thr1034=)
 dbSNP gnomAD v2 COSMIC COSMIC
18g.23534521G>CCA503322153NPC1c.3516C>G (p.Thr1172=)
c.271C>G
n.40C>G
n.271C>G
c.2594C>G
c.193C>G
c.3567C>G (p.Thr1189=)
c.3102C>G (p.Thr1034=)
18g.23534521G=CA2290163355NPC1c.3516C= (p.Thr1172=)
c.271C=
n.40C=
n.271C=
c.2594C=
c.193C=
c.3567C= (p.Thr1189=)
c.3102C= (p.Thr1034=)
18g.23534521G>TCA503322154NPC1c.3516C>A (p.Thr1172=)
c.271C>A
n.40C>A
n.271C>A
c.2594C>A
c.193C>A
c.3567C>A (p.Thr1189=)
c.3102C>A (p.Thr1034=)
 gnomAD v4
18g.23534521_23534522insCCA2641278144NPC1c.3515_3516insG (p.Arg1173GlnfsTer?)
c.270_271insG
n.39_40insG
n.270_271insG
c.2593_2594insG
c.192_193insG
c.3566_3567insG (p.Arg1190GlnfsTer?)
c.3101_3102insG (p.Arg1035GlnfsTer?)
 gnomAD v4
18g.23534522G>ACA401791015NPC1c.3515C>T (p.Thr1172Ile)
c.270C>T
n.39C>T
n.270C>T
c.2593C>T
c.192C>T
c.3566C>T (p.Thr1189Ile)
c.3101C>T (p.Thr1034Ile)
18g.23534522G>CCA401791016NPC1c.3515C>G (p.Thr1172Ser)
c.270C>G
n.39C>G
n.270C>G
c.2593C>G
c.192C>G
c.3566C>G (p.Thr1189Ser)
c.3101C>G (p.Thr1034Ser)
18g.23534522G>TCA401791017NPC1c.3515C>A (p.Thr1172Asn)
c.270C>A
n.39C>A
n.270C>A
c.2593C>A
c.192C>A
c.3566C>A (p.Thr1189Asn)
c.3101C>A (p.Thr1034Asn)
 gnomAD v4
18g.23534522_23534523delinsGTCA2290163356NPC1c.3514_3515delinsAC (p.Thr1172=)
c.269_270delinsAC
n.38_39delinsAC
n.269_270delinsAC
c.2592_2593delinsAC
c.191_192delinsAC
c.3565_3566delinsAC (p.Thr1189=)
c.3100_3101delinsAC (p.Thr1034=)
18g.23534523T>ACA401791018NPC1c.3514A>T (p.Thr1172Ser)
c.269A>T
n.38A>T
n.269A>T
c.2592A>T
c.191A>T
c.3565A>T (p.Thr1189Ser)
c.3100A>T (p.Thr1034Ser)
18g.23534523T>CCA401791019NPC1c.3514A>G (p.Thr1172Ala)
c.269A>G
n.38A>G
n.269A>G
c.2592A>G
c.191A>G
c.3565A>G (p.Thr1189Ala)
c.3100A>G (p.Thr1034Ala)
18g.23534523T>GCA401791020NPC1c.3514A>C (p.Thr1172Pro)
c.269A>C
n.38A>C
n.269A>C
c.2592A>C
c.191A>C
c.3565A>C (p.Thr1189Pro)
c.3100A>C (p.Thr1034Pro)
18g.23534524delCA2290163357NPC1c.3514del (p.Thr1172ProfsTer6)
c.269del
n.38del
n.269del
c.2592del
c.191del
c.3565del (p.Thr1189ProfsTer6)
c.3100del (p.Thr1034ProfsTer6)
 dbSNP
18g.23534524T>ACA503322156NPC1c.3513A>T (p.Ile1171=)
c.268A>T
n.37A>T
n.268A>T
c.2591A>T
c.190A>T
c.3564A>T (p.Ile1188=)
c.3099A>T (p.Ile1033=)
 dbSNP gnomAD v3 gnomAD v4
18g.23534524T>CCA401791021NPC1c.3513A>G (p.Ile1171Met)
c.268A>G
n.37A>G
n.268A>G
c.2591A>G
c.190A>G
c.3564A>G (p.Ile1188Met)
c.3099A>G (p.Ile1033Met)
18g.23534524T>GCA503322155NPC1c.3513A>C (p.Ile1171=)
c.268A>C
n.37A>C
n.268A>C
c.2591A>C
c.190A>C
c.3564A>C (p.Ile1188=)
c.3099A>C (p.Ile1033=)
18g.23534525A>CCA401791022NPC1c.3512T>G (p.Ile1171Arg)
c.267T>G
n.36T>G
n.267T>G
c.2590T>G
c.189T>G
c.3563T>G (p.Ile1188Arg)
c.3098T>G (p.Ile1033Arg)
18g.23534525A>GCA401791023NPC1c.3512T>C (p.Ile1171Thr)
c.267T>C
n.36T>C
n.267T>C
c.2590T>C
c.189T>C
c.3563T>C (p.Ile1188Thr)
c.3098T>C (p.Ile1033Thr)
18g.23534525A>TCA401791024NPC1c.3512T>A (p.Ile1171Lys)
c.267T>A
n.36T>A
n.267T>A
c.2590T>A
c.189T>A
c.3563T>A (p.Ile1188Lys)
c.3098T>A (p.Ile1033Lys)
18g.23534526T>ACA401791025NPC1c.3511A>T (p.Ile1171Leu)
c.266A>T
n.35A>T
n.266A>T
c.2589A>T
c.188A>T
c.3562A>T (p.Ile1188Leu)
c.3097A>T (p.Ile1033Leu)
18g.23534526T>CCA401791026NPC1c.3511A>G (p.Ile1171Val)
c.266A>G
n.35A>G
n.266A>G
c.2589A>G
c.188A>G
c.3562A>G (p.Ile1188Val)
c.3097A>G (p.Ile1033Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23534526T>GCA401791027NPC1c.3511A>C (p.Ile1171Leu)
c.266A>C
n.35A>C
n.266A>C
c.2589A>C
c.188A>C
c.3562A>C (p.Ile1188Leu)
c.3097A>C (p.Ile1033Leu)
18g.23534526T=CA2290163358NPC1c.3511A= (p.Ile1171=)
c.266A=
n.35A=
n.266A=
c.2589A=
c.188A=
c.3562A= (p.Ile1188=)
c.3097A= (p.Ile1033=)
18g.23534527G>ACA503322157NPC1c.3510C>T (p.His1170=)
c.265C>T
n.34C>T
n.265C>T
c.2588C>T
c.187C>T
c.3561C>T (p.His1187=)
c.3096C>T (p.His1032=)
18g.23534527G>CCA401791028NPC1c.3510C>G (p.His1170Gln)
c.265C>G
n.34C>G
n.265C>G
c.2588C>G
c.187C>G
c.3561C>G (p.His1187Gln)
c.3096C>G (p.His1032Gln)
18g.23534527G>TCA401791029NPC1c.3510C>A (p.His1170Gln)
c.265C>A
n.34C>A
n.265C>A
c.2588C>A
c.187C>A
c.3561C>A (p.His1187Gln)
c.3096C>A (p.His1032Gln)
18g.23534528T>ACA401791030NPC1c.3509A>T (p.His1170Leu)
c.264A>T
n.33A>T
n.264A>T
c.2587A>T
c.186A>T
c.3560A>T (p.His1187Leu)
c.3095A>T (p.His1032Leu)
18g.23534528T>CCA401791032NPC1c.3509A>G (p.His1170Arg)
c.264A>G
n.33A>G
n.264A>G
c.2587A>G
c.186A>G
c.3560A>G (p.His1187Arg)
c.3095A>G (p.His1032Arg)
18g.23534528T>GCA401791031NPC1c.3509A>C (p.His1170Pro)
c.264A>C
n.33A>C
n.264A>C
c.2587A>C
c.186A>C
c.3560A>C (p.His1187Pro)
c.3095A>C (p.His1032Pro)
18g.23534529G>ACA401791033NPC1c.3508C>T (p.His1170Tyr)
c.263C>T
n.32C>T
n.263C>T
c.2586C>T
c.185C>T
c.3559C>T (p.His1187Tyr)
c.3094C>T (p.His1032Tyr)
18g.23534529G>CCA401791034NPC1c.3508C>G (p.His1170Asp)
c.263C>G
n.32C>G
n.263C>G
c.2586C>G
c.185C>G
c.3559C>G (p.His1187Asp)
c.3094C>G (p.His1032Asp)
18g.23534529G>TCA401791035NPC1c.3508C>A (p.His1170Asn)
c.263C>A
n.32C>A
n.263C>A
c.2586C>A
c.185C>A
c.3559C>A (p.His1187Asn)
c.3094C>A (p.His1032Asn)
18g.23534530G>ACA503322158NPC1c.3507C>T (p.Ser1169=)
c.262C>T
n.31C>T
n.262C>T
c.2585C>T
c.184C>T
c.3558C>T (p.Ser1186=)
c.3093C>T (p.Ser1031=)
18g.23534530G>CCA401791036NPC1c.3507C>G (p.Ser1169Arg)
c.262C>G
n.31C>G
n.262C>G
c.2585C>G
c.184C>G
c.3558C>G (p.Ser1186Arg)
c.3093C>G (p.Ser1031Arg)
 ClinVar dbSNP
18g.23534530G=CA2290163359NPC1c.3507C= (p.Ser1169=)
c.262C=
n.31C=
n.262C=
c.2585C=
c.184C=
c.3558C= (p.Ser1186=)
c.3093C= (p.Ser1031=)
18g.23534530G>TCA401791037NPC1c.3507C>A (p.Ser1169Arg)
c.262C>A
n.31C>A
n.262C>A
c.2585C>A
c.184C>A
c.3558C>A (p.Ser1186Arg)
c.3093C>A (p.Ser1031Arg)
18g.23534531C>ACA297078684NPC1c.3506G>T (p.Ser1169Ile)
c.261G>T
n.30G>T
n.261G>T
c.2584G>T
c.183G>T
c.3557G>T (p.Ser1186Ile)
c.3092G>T (p.Ser1031Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23534531C=CA2290163360NPC1c.3506G= (p.Ser1169=)
c.261G=
n.30G=
n.261G=
c.2584G=
c.183G=
c.3557G= (p.Ser1186=)
c.3092G= (p.Ser1031=)
18g.23534531C>GCA401791038NPC1c.3506G>C (p.Ser1169Thr)
c.261G>C
n.30G>C
n.261G>C
c.2584G>C
c.183G>C
c.3557G>C (p.Ser1186Thr)
c.3092G>C (p.Ser1031Thr)
18g.23534531C>TCA401791039NPC1c.3506G>A (p.Ser1169Asn)
c.261G>A
n.30G>A
n.261G>A
c.2584G>A
c.183G>A
c.3557G>A (p.Ser1186Asn)
c.3092G>A (p.Ser1031Asn)
18g.23534532T>ACA401791040NPC1c.3505A>T (p.Ser1169Cys)
c.260A>T
n.29A>T
n.260A>T
c.2583A>T
c.182A>T
c.3556A>T (p.Ser1186Cys)
c.3091A>T (p.Ser1031Cys)
18g.23534532T>CCA401791041NPC1c.3505A>G (p.Ser1169Gly)
c.260A>G
n.29A>G
n.260A>G
c.2583A>G
c.182A>G
c.3556A>G (p.Ser1186Gly)
c.3091A>G (p.Ser1031Gly)
18g.23534532T>GCA297016NPC1c.3505A>C (p.Ser1169Arg)
c.260A>C
n.29A>C
n.260A>C
c.2583A>C
c.182A>C
c.3556A>C (p.Ser1186Arg)
c.3091A>C (p.Ser1031Arg)
 dbSNP
18g.23534532T=CA2290163361NPC1c.3505A= (p.Ser1169=)
c.260A=
n.29A=
n.260A=
c.2583A=
c.182A=
c.3556A= (p.Ser1186=)
c.3091A= (p.Ser1031=)
18g.23534533G>ACA503322159NPC1c.3504C>T (p.Cys1168=)
c.259C>T
n.28C>T
n.259C>T
c.2582C>T
c.181C>T
c.3555C>T (p.Cys1185=)
c.3090C>T (p.Cys1030=)
 ClinVar dbSNP
18g.23534533G>CCA401791042NPC1c.3504C>G (p.Cys1168Trp)
c.259C>G
n.28C>G
n.259C>G
c.2582C>G
c.181C>G
c.3555C>G (p.Cys1185Trp)
c.3090C>G (p.Cys1030Trp)
18g.23534533G>TCA401791043NPC1c.3504C>A (p.Cys1168Ter)
c.259C>A
n.28C>A
n.259C>A
c.2582C>A
c.181C>A
c.3555C>A (p.Cys1185Ter)
c.3090C>A (p.Cys1030Ter)
18g.23534534C>ACA401791044NPC1c.3503G>T (p.Cys1168Phe)
c.258G>T
n.27G>T
n.258G>T
c.2581G>T
c.180G>T
c.3554G>T (p.Cys1185Phe)
c.3089G>T (p.Cys1030Phe)
18g.23534534C=CA2290163362NPC1c.3503G= (p.Cys1168=)
c.258G=
n.27G=
n.258G=
c.2581G=
c.180G=
c.3554G= (p.Cys1185=)
c.3089G= (p.Cys1030=)
18g.23534534C>GCA401791046NPC1c.3503G>C (p.Cys1168Ser)
c.258G>C
n.27G>C
n.258G>C
c.2581G>C
c.180G>C
c.3554G>C (p.Cys1185Ser)
c.3089G>C (p.Cys1030Ser)
18g.23534534C>TCA401791045NPC1c.3503G>A (p.Cys1168Tyr)
c.258G>A
n.27G>A
n.258G>A
c.2581G>A
c.180G>A
c.3554G>A (p.Cys1185Tyr)
c.3089G>A (p.Cys1030Tyr)
 ClinVar dbSNP gnomAD v4
18g.23534535A>CCA401791047NPC1c.3502T>G (p.Cys1168Gly)
c.257T>G
n.26T>G
n.257T>G
c.2580T>G
c.179T>G
c.3553T>G (p.Cys1185Gly)
c.3088T>G (p.Cys1030Gly)
 ClinVar
18g.23534535A>GCA401791048NPC1c.3502T>C (p.Cys1168Arg)
c.257T>C
n.26T>C
n.257T>C
c.2580T>C
c.179T>C
c.3553T>C (p.Cys1185Arg)
c.3088T>C (p.Cys1030Arg)
18g.23534535A>TCA401791049NPC1c.3502T>A (p.Cys1168Ser)
c.257T>A
n.26T>A
n.257T>A
c.2580T>A
c.179T>A
c.3553T>A (p.Cys1185Ser)
c.3088T>A (p.Cys1030Ser)
18g.23534536G>ACA503322160NPC1c.3501C>T (p.Phe1167=)
c.256C>T
n.25C>T
n.256C>T
c.2579C>T
c.178C>T
c.3552C>T (p.Phe1184=)
c.3087C>T (p.Phe1029=)
 gnomAD v4
18g.23534536G>CCA401791050NPC1c.3501C>G (p.Phe1167Leu)
c.256C>G
n.25C>G
n.256C>G
c.2579C>G
c.178C>G
c.3552C>G (p.Phe1184Leu)
c.3087C>G (p.Phe1029Leu)
18g.23534536G>TCA401791051NPC1c.3501C>A (p.Phe1167Leu)
c.256C>A
n.25C>A
n.256C>A
c.2579C>A
c.178C>A
c.3552C>A (p.Phe1184Leu)
c.3087C>A (p.Phe1029Leu)
18g.23534537A=CA2290163363NPC1c.3500T= (p.Phe1167=)
c.255T=
n.24T=
n.255T=
c.2578T=
c.177T=
c.3551T= (p.Phe1184=)
c.3086T= (p.Phe1029=)
18g.23534537A>CCA401791052NPC1c.3500T>G (p.Phe1167Cys)
c.255T>G
n.24T>G
n.255T>G
c.2578T>G
c.177T>G
c.3551T>G (p.Phe1184Cys)
c.3086T>G (p.Phe1029Cys)
 ClinVar dbSNP
18g.23534537A>GCA401791053NPC1c.3500T>C (p.Phe1167Ser)
c.255T>C
n.24T>C
n.255T>C
c.2578T>C
c.177T>C
c.3551T>C (p.Phe1184Ser)
c.3086T>C (p.Phe1029Ser)
18g.23534537A>TCA401791054NPC1c.3500T>A (p.Phe1167Tyr)
c.255T>A
n.24T>A
n.255T>A
c.2578T>A
c.177T>A
c.3551T>A (p.Phe1184Tyr)
c.3086T>A (p.Phe1029Tyr)
18g.23534538A>CCA401791055NPC1c.3499T>G (p.Phe1167Val)
c.254T>G
n.23T>G
n.254T>G
c.2577T>G
c.176T>G
c.3550T>G (p.Phe1184Val)
c.3085T>G (p.Phe1029Val)
18g.23534538A>GCA401791056NPC1c.3499T>C (p.Phe1167Leu)
c.254T>C
n.23T>C
n.254T>C
c.2577T>C
c.176T>C
c.3550T>C (p.Phe1184Leu)
c.3085T>C (p.Phe1029Leu)
18g.23534538A>TCA401791057NPC1c.3499T>A (p.Phe1167Ile)
c.254T>A
n.23T>A
n.254T>A
c.2577T>A
c.176T>A
c.3550T>A (p.Phe1184Ile)
c.3085T>A (p.Phe1029Ile)
18g.23534539C>ACA401791059NPC1c.3498G>T (p.Glu1166Asp)
c.253G>T
n.22G>T
n.253G>T
c.2576G>T
c.175G>T
c.3549G>T (p.Glu1183Asp)
c.3084G>T (p.Glu1028Asp)
18g.23534539C=CA2290163364NPC1c.3498G= (p.Glu1166=)
c.253G=
n.22G=
n.253G=
c.2576G=
c.175G=
c.3549G= (p.Glu1183=)
c.3084G= (p.Glu1028=)
18g.23534539C>GCA401791058NPC1c.3498G>C (p.Glu1166Asp)
c.253G>C
n.22G>C
n.253G>C
c.2576G>C
c.175G>C
c.3549G>C (p.Glu1183Asp)
c.3084G>C (p.Glu1028Asp)
18g.23534539C>TCA503322161NPC1c.3498G>A (p.Glu1166=)
c.253G>A
n.22G>A
n.253G>A
c.2576G>A
c.175G>A
c.3549G>A (p.Glu1183=)
c.3084G>A (p.Glu1028=)
 dbSNP gnomAD v2 gnomAD v4
18g.23534540T>ACA401791060NPC1c.3497A>T (p.Glu1166Val)
c.252A>T
n.21A>T
n.252A>T
c.2575A>T
c.174A>T
c.3548A>T (p.Glu1183Val)
c.3083A>T (p.Glu1028Val)
18g.23534540T>CCA401791061NPC1c.3497A>G (p.Glu1166Gly)
c.252A>G
n.21A>G
n.252A>G
c.2575A>G
c.174A>G
c.3548A>G (p.Glu1183Gly)
c.3083A>G (p.Glu1028Gly)
18g.23534540T>GCA401791062NPC1c.3497A>C (p.Glu1166Ala)
c.252A>C
n.21A>C
n.252A>C
c.2575A>C
c.174A>C
c.3548A>C (p.Glu1183Ala)
c.3083A>C (p.Glu1028Ala)
18g.23534541C>ACA401791063NPC1c.3496G>T (p.Glu1166Ter)
c.251G>T
n.20G>T
n.251G>T
c.2574G>T
c.173G>T
c.3547G>T (p.Glu1183Ter)
c.3082G>T (p.Glu1028Ter)
 ClinVar
18g.23534541C=CA2290163365NPC1c.3496G= (p.Glu1166=)
c.251G=
n.20G=
n.251G=
c.2574G=
c.173G=
c.3547G= (p.Glu1183=)
c.3082G= (p.Glu1028=)
18g.23534541C>GCA401791064NPC1c.3496G>C (p.Glu1166Gln)
c.251G>C
n.20G>C
n.251G>C
c.2574G>C
c.173G>C
c.3547G>C (p.Glu1183Gln)
c.3082G>C (p.Glu1028Gln)
18g.23534541C>TCA401791065NPC1c.3496G>A (p.Glu1166Lys)
c.251G>A
n.20G>A
n.251G>A
c.2574G>A
c.173G>A
c.3547G>A (p.Glu1183Lys)
c.3082G>A (p.Glu1028Lys)
 ClinVar dbSNP
18g.23534542C>ACA503322162NPC1c.3495G>T (p.Val1165=)
c.250G>T
n.19G>T
n.250G>T
c.2573G>T
c.172G>T
c.3546G>T (p.Val1182=)
c.3081G>T (p.Val1027=)
18g.23534542C=CA2290163366NPC1c.3495G= (p.Val1165=)
c.250G=
n.19G=
n.250G=
c.2573G=
c.172G=
c.3546G= (p.Val1182=)
c.3081G= (p.Val1027=)
18g.23534542C>GCA503322163NPC1c.3495G>C (p.Val1165=)
c.250G>C
n.19G>C
n.250G>C
c.2573G>C
c.172G>C
c.3546G>C (p.Val1182=)
c.3081G>C (p.Val1027=)
18g.23534542C>TCA297078686NPC1c.3495G>A (p.Val1165=)
c.250G>A
n.19G>A
n.250G>A
c.2573G>A
c.172G>A
c.3546G>A (p.Val1182=)
c.3081G>A (p.Val1027=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23534543A>CCA401791066NPC1c.3494T>G (p.Val1165Gly)
c.249T>G
n.18T>G
n.249T>G
c.2572T>G
c.171T>G
c.3545T>G (p.Val1182Gly)
c.3080T>G (p.Val1027Gly)
18g.23534543A>GCA401791067NPC1c.3494T>C (p.Val1165Ala)
c.249T>C
n.18T>C
n.249T>C
c.2572T>C
c.171T>C
c.3545T>C (p.Val1182Ala)
c.3080T>C (p.Val1027Ala)
18g.23534543A>TCA401791068NPC1c.3494T>A (p.Val1165Glu)
c.249T>A
n.18T>A
n.249T>A
c.2572T>A
c.171T>A
c.3545T>A (p.Val1182Glu)
c.3080T>A (p.Val1027Glu)
18g.23534544C>ACA8912745NPC1c.3493G>T (p.Val1165Leu)
c.248G>T
n.17G>T
n.248G>T
c.2571G>T
c.170G>T
c.3544G>T (p.Val1182Leu)
c.3079G>T (p.Val1027Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23534544C=CA2290163367NPC1c.3493G= (p.Val1165=)
c.248G=
n.17G=
n.248G=
c.2571G=
c.170G=
c.3544G= (p.Val1182=)
c.3079G= (p.Val1027=)
18g.23534544C>GCA401791069NPC1c.3493G>C (p.Val1165Leu)
c.248G>C
n.17G>C
n.248G>C
c.2571G>C
c.170G>C
c.3544G>C (p.Val1182Leu)
c.3079G>C (p.Val1027Leu)
18g.23534544C>TCA242284NPC1c.3493G>A (p.Val1165Met)
c.248G>A
n.17G>A
n.248G>A
c.2571G>A
c.170G>A
c.3544G>A (p.Val1182Met)
c.3079G>A (p.Val1027Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23534545G>ACA8912746NPC1c.3492C>T (p.Ser1164=)
c.247C>T
n.16C>T
n.247C>T
c.2570C>T
c.169C>T
c.3543C>T (p.Ser1181=)
c.3078C>T (p.Ser1026=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23534545G>CCA503322164NPC1c.3492C>G (p.Ser1164=)
c.247C>G
n.16C>G
n.247C>G
c.2570C>G
c.169C>G
c.3543C>G (p.Ser1181=)
c.3078C>G (p.Ser1026=)
18g.23534545G=CA2290163368NPC1c.3492C= (p.Ser1164=)
c.247C=
n.16C=
n.247C=
c.2570C=
c.169C=
c.3543C= (p.Ser1181=)
c.3078C= (p.Ser1026=)
18g.23534545G>TCA503322165NPC1c.3492C>A (p.Ser1164=)
c.247C>A
n.16C>A
n.247C>A
c.2570C>A
c.169C>A
c.3543C>A (p.Ser1181=)
c.3078C>A (p.Ser1026=)
18g.23534546G>ACA401791072NPC1c.3491C>T (p.Ser1164Phe)
c.246C>T
n.15C>T
n.246C>T
c.2569C>T
c.168C>T
c.3542C>T (p.Ser1181Phe)
c.3077C>T (p.Ser1026Phe)
18g.23534546G>CCA401791071NPC1c.3491C>G (p.Ser1164Cys)
c.246C>G
n.15C>G
n.246C>G
c.2569C>G
c.168C>G
c.3542C>G (p.Ser1181Cys)
c.3077C>G (p.Ser1026Cys)
18g.23534546G>TCA401791070NPC1c.3491C>A (p.Ser1164Tyr)
c.246C>A
n.15C>A
n.246C>A
c.2569C>A
c.168C>A
c.3542C>A (p.Ser1181Tyr)
c.3077C>A (p.Ser1026Tyr)
18g.23534547A>CCA401791073NPC1c.3490T>G (p.Ser1164Ala)
c.245T>G
n.14T>G
n.245T>G
c.2568T>G
c.167T>G
c.3541T>G (p.Ser1181Ala)
c.3076T>G (p.Ser1026Ala)
18g.23534547A>GCA401791074NPC1c.3490T>C (p.Ser1164Pro)
c.245T>C
n.14T>C
n.245T>C
c.2568T>C
c.167T>C
c.3541T>C (p.Ser1181Pro)
c.3076T>C (p.Ser1026Pro)
 ClinVar
18g.23534547A>TCA401791075NPC1c.3490T>A (p.Ser1164Thr)
c.245T>A
n.14T>A
n.245T>A
c.2568T>A
c.167T>A
c.3541T>A (p.Ser1181Thr)
c.3076T>A (p.Ser1026Thr)
18g.23534548G>ACA297078702NPC1c.3489C>T (p.Ile1163=)
c.244C>T
n.13C>T
n.244C>T
c.2567C>T
c.166C>T
c.3540C>T (p.Ile1180=)
c.3075C>T (p.Ile1025=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23534548G>CCA401791076NPC1c.3489C>G (p.Ile1163Met)
c.244C>G
n.13C>G
n.244C>G
c.2567C>G
c.166C>G
c.3540C>G (p.Ile1180Met)
c.3075C>G (p.Ile1025Met)
18g.23534548G=CA2290163369NPC1c.3489C= (p.Ile1163=)
c.244C=
n.13C=
n.244C=
c.2567C=
c.166C=
c.3540C= (p.Ile1180=)
c.3075C= (p.Ile1025=)
18g.23534548G>TCA503322166NPC1c.3489C>A (p.Ile1163=)
c.244C>A
n.13C>A
n.244C>A
c.2567C>A
c.166C>A
c.3540C>A (p.Ile1180=)
c.3075C>A (p.Ile1025=)
18g.23534549A=CA2290163370NPC1c.3488T= (p.Ile1163=)
c.243T=
n.12T=
n.243T=
c.2566T=
c.165T=
c.3539T= (p.Ile1180=)
c.3074T= (p.Ile1025=)
18g.23534549A>CCA401791077NPC1c.3488T>G (p.Ile1163Ser)
c.243T>G
n.12T>G
n.243T>G
c.2566T>G
c.165T>G
c.3539T>G (p.Ile1180Ser)
c.3074T>G (p.Ile1025Ser)
18g.23534549A>GCA401791078NPC1c.3488T>C (p.Ile1163Thr)
c.243T>C
n.12T>C
n.243T>C
c.2566T>C
c.165T>C
c.3539T>C (p.Ile1180Thr)
c.3074T>C (p.Ile1025Thr)
18g.23534549A>TCA401791079NPC1c.3488T>A (p.Ile1163Asn)
c.243T>A
n.12T>A
n.243T>A
c.2566T>A
c.165T>A
c.3539T>A (p.Ile1180Asn)
c.3074T>A (p.Ile1025Asn)
 dbSNP gnomAD v3 gnomAD v4
18g.23534550T>ACA401791080NPC1c.3487A>T (p.Ile1163Phe)
c.242A>T
n.11A>T
n.242A>T
c.2565A>T
c.164A>T
c.3538A>T (p.Ile1180Phe)
c.3073A>T (p.Ile1025Phe)
18g.23534550T>CCA401791081NPC1c.3487A>G (p.Ile1163Val)
c.242A>G
n.11A>G
n.242A>G
c.2565A>G
c.164A>G
c.3538A>G (p.Ile1180Val)
c.3073A>G (p.Ile1025Val)
 gnomAD v4
18g.23534550T>GCA401791082NPC1c.3487A>C (p.Ile1163Leu)
c.242A>C
n.11A>C
n.242A>C
c.2565A>C
c.164A>C
c.3538A>C (p.Ile1180Leu)
c.3073A>C (p.Ile1025Leu)
18g.23534551G>ACA8912747NPC1c.3486C>T (p.Gly1162=)
c.241C>T
n.10C>T
n.241C>T
c.2564C>T
c.163C>T
c.3537C>T (p.Gly1179=)
c.3072C>T (p.Gly1024=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23534551G>CCA503322168NPC1c.3486C>G (p.Gly1162=)
c.241C>G
n.10C>G
n.241C>G
c.2564C>G
c.163C>G
c.3537C>G (p.Gly1179=)
c.3072C>G (p.Gly1024=)
18g.23534551G=CA2290163371NPC1c.3486C= (p.Gly1162=)
c.241C=
n.10C=
n.241C=
c.2564C=
c.163C=
c.3537C= (p.Gly1179=)
c.3072C= (p.Gly1024=)
18g.23534551G>TCA503322167NPC1c.3486C>A (p.Gly1162=)
c.241C>A
n.10C>A
n.241C>A
c.2564C>A
c.163C>A
c.3537C>A (p.Gly1179=)
c.3072C>A (p.Gly1024=)
18g.23534552C>ACA401791083NPC1c.3485G>T (p.Gly1162Val)
c.240G>T
n.9G>T
n.240G>T
c.2563G>T
c.162G>T
c.3536G>T (p.Gly1179Val)
c.3071G>T (p.Gly1024Val)
 dbSNP
18g.23534552C=CA2290163372NPC1c.3485G= (p.Gly1162=)
c.240G=
n.9G=
n.240G=
c.2563G=
c.162G=
c.3536G= (p.Gly1179=)
c.3071G= (p.Gly1024=)
18g.23534552C>GCA401791084NPC1c.3485G>C (p.Gly1162Ala)
c.240G>C
n.9G>C
n.240G>C
c.2563G>C
c.162G>C
c.3536G>C (p.Gly1179Ala)
c.3071G>C (p.Gly1024Ala)
 ClinVar dbSNP
18g.23534552C>TCA401791085NPC1c.3485G>A (p.Gly1162Asp)
c.240G>A
n.9G>A
n.240G>A
c.2563G>A
c.162G>A
c.3536G>A (p.Gly1179Asp)
c.3071G>A (p.Gly1024Asp)
 dbSNP gnomAD v2
18g.23534553C>ACA401791087NPC1c.3484G>T (p.Gly1162Cys)
c.239G>T
n.8G>T
n.239G>T
c.2562G>T
c.161G>T
c.3535G>T (p.Gly1179Cys)
c.3070G>T (p.Gly1024Cys)
18g.23534553C>GCA401791088NPC1c.3484G>C (p.Gly1162Arg)
c.239G>C
n.8G>C
n.239G>C
c.2562G>C
c.161G>C
c.3535G>C (p.Gly1179Arg)
c.3070G>C (p.Gly1024Arg)
18g.23534553C>TCA401791086NPC1c.3484G>A (p.Gly1162Ser)
c.239G>A
n.8G>A
n.239G>A
c.2562G>A
c.161G>A
c.3535G>A (p.Gly1179Ser)
c.3070G>A (p.Gly1024Ser)
18g.23534554A=CA2290163373NPC1c.3483T= (p.Cys1161=)
c.238T=
n.7T=
n.238T=
c.2561T=
c.160T=
c.3534T= (p.Cys1178=)
c.3069T= (p.Cys1023=)
18g.23534554A>CCA401791089NPC1c.3483T>G (p.Cys1161Trp)
c.238T>G
n.7T>G
n.238T>G
c.2561T>G
c.160T>G
c.3534T>G (p.Cys1178Trp)
c.3069T>G (p.Cys1023Trp)
18g.23534554A>GCA503322169NPC1c.3483T>C (p.Cys1161=)
c.238T>C
n.7T>C
n.238T>C
c.2561T>C
c.160T>C
c.3534T>C (p.Cys1178=)
c.3069T>C (p.Cys1023=)
 ClinVar dbSNP gnomAD v4
18g.23534554A>TCA401791090NPC1c.3483T>A (p.Cys1161Ter)
c.238T>A
n.7T>A
n.238T>A
c.2561T>A
c.160T>A
c.3534T>A (p.Cys1178Ter)
c.3069T>A (p.Cys1023Ter)
18g.23534555C>ACA401791091NPC1c.3482G>T (p.Cys1161Phe)
c.237G>T
n.6G>T
n.237G>T
c.2560G>T
c.159G>T
c.3533G>T (p.Cys1178Phe)
c.3068G>T (p.Cys1023Phe)
18g.23534555C=CA2290163374NPC1c.3482G= (p.Cys1161=)
c.237G=
n.6G=
n.237G=
c.2560G=
c.159G=
c.3533G= (p.Cys1178=)
c.3068G= (p.Cys1023=)
18g.23534555C>GCA401791092NPC1c.3482G>C (p.Cys1161Ser)
c.237G>C
n.6G>C
n.237G>C
c.2560G>C
c.159G>C
c.3533G>C (p.Cys1178Ser)
c.3068G>C (p.Cys1023Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23534555C>TCA401791093NPC1c.3482G>A (p.Cys1161Tyr)
c.237G>A
n.6G>A
n.237G>A
c.2560G>A
c.159G>A
c.3533G>A (p.Cys1178Tyr)
c.3068G>A (p.Cys1023Tyr)
18g.23534556A>CCA401791094NPC1c.3481T>G (p.Cys1161Gly)
c.236T>G
n.5T>G
n.236T>G
c.2559T>G
c.158T>G
c.3532T>G (p.Cys1178Gly)
c.3067T>G (p.Cys1023Gly)
18g.23534556A>GCA401791095NPC1c.3481T>C (p.Cys1161Arg)
c.236T>C
n.5T>C
n.236T>C
c.2559T>C
c.158T>C
c.3532T>C (p.Cys1178Arg)
c.3067T>C (p.Cys1023Arg)
 ClinVar
18g.23534556A>TCA401791096NPC1c.3481T>A (p.Cys1161Ser)
c.236T>A
n.5T>A
n.236T>A
c.2559T>A
c.158T>A
c.3532T>A (p.Cys1178Ser)
c.3067T>A (p.Cys1023Ser)
18g.23534557G>ACA503322170NPC1c.3480C>T (p.Ser1160=)
c.235C>T
n.4C>T
n.235C>T
c.2558C>T
c.157C>T
c.3531C>T (p.Ser1177=)
c.3066C>T (p.Ser1022=)
18g.23534557G>CCA401791097NPC1c.3480C>G (p.Ser1160Arg)
c.235C>G
n.4C>G
n.235C>G
c.2558C>G
c.157C>G
c.3531C>G (p.Ser1177Arg)
c.3066C>G (p.Ser1022Arg)
18g.23534557G>TCA401791098NPC1c.3480C>A (p.Ser1160Arg)
c.235C>A
n.4C>A
n.235C>A
c.2558C>A
c.157C>A
c.3531C>A (p.Ser1177Arg)
c.3066C>A (p.Ser1022Arg)
18g.23534558C>ACA401791099NPC1c.3479G>T (p.Ser1160Ile)
c.234G>T
n.3G>T
n.234G>T
c.2557G>T
c.156G>T
c.3530G>T (p.Ser1177Ile)
c.3065G>T (p.Ser1022Ile)
18g.23534558C>GCA401791100NPC1c.3479G>C (p.Ser1160Thr)
c.234G>C
n.3G>C
n.234G>C
c.2557G>C
c.156G>C
c.3530G>C (p.Ser1177Thr)
c.3065G>C (p.Ser1022Thr)
18g.23534558C>TCA401791101NPC1c.3479G>A (p.Ser1160Asn)
c.234G>A
n.3G>A
n.234G>A
c.2557G>A
c.156G>A
c.3530G>A (p.Ser1177Asn)
c.3065G>A (p.Ser1022Asn)
 gnomAD v4
18g.23534559T>ACA401791104NPC1c.3478A>T (p.Ser1160Cys)
c.233A>T
n.2A>T
n.233A>T
c.2556A>T
c.155A>T
c.3529A>T (p.Ser1177Cys)
c.3064A>T (p.Ser1022Cys)
18g.23534559T>CCA401791103NPC1c.3478A>G (p.Ser1160Gly)
c.233A>G
n.2A>G
n.233A>G
c.2556A>G
c.155A>G
c.3529A>G (p.Ser1177Gly)
c.3064A>G (p.Ser1022Gly)
18g.23534559T>GCA401791102NPC1c.3478A>C (p.Ser1160Arg)
c.233A>C
n.2A>C
n.233A>C
c.2556A>C
c.155A>C
c.3529A>C (p.Ser1177Arg)
c.3064A>C (p.Ser1022Arg)
18g.23534560C>ACA401791105NPC1c.3478-1G>T (n.3478-1G>T)
c.233-1G>T
n.1G>T
n.233-1G>T
c.2556-1G>T
c.155-1G>T
c.3529-1G>T (n.3529-1G>T)
c.3064-1G>T (n.3064-1G>T)
18g.23534560C>GCA401791106NPC1c.3478-1G>C (n.3478-1G>C)
c.233-1G>C
n.1G>C
n.233-1G>C
c.2556-1G>C
c.155-1G>C
c.3529-1G>C (n.3529-1G>C)
c.3064-1G>C (n.3064-1G>C)
 ClinVar gnomAD v4
18g.23534560C>TCA401791107NPC1c.3478-1G>A (n.3478-1G>A)
c.233-1G>A
n.1G>A
n.233-1G>A
c.2556-1G>A
c.155-1G>A
c.3529-1G>A (n.3529-1G>A)
c.3064-1G>A (n.3064-1G>A)
18g.23534561T>ACA401791108NPC1c.3478-2A>T (n.3478-2A>T)
c.233-2A>T
n.233-2A>T
c.2556-2A>T
c.155-2A>T
c.3529-2A>T (n.3529-2A>T)
c.3064-2A>T (n.3064-2A>T)
18g.23534561T>CCA401791109NPC1c.3478-2A>G (n.3478-2A>G)
c.233-2A>G
n.233-2A>G
c.2556-2A>G
c.155-2A>G
c.3529-2A>G (n.3529-2A>G)
c.3064-2A>G (n.3064-2A>G)
 gnomAD v4
18g.23534561T>GCA401791110NPC1c.3478-2A>C (n.3478-2A>C)
c.233-2A>C
n.233-2A>C
c.2556-2A>C
c.155-2A>C
c.3529-2A>C (n.3529-2A>C)
c.3064-2A>C (n.3064-2A>C)
18g.23534562G>ACA2562866386NPC1c.3478-3C>T (n.3478-3C>T)
c.233-3C>T
n.233-3C>T
c.2556-3C>T
c.155-3C>T
c.3529-3C>T (n.3529-3C>T)
c.3064-3C>T (n.3064-3C>T)
 ClinVar dbSNP gnomAD v4
18g.23534563A=CA2290163375NPC1c.3478-4T= (n.3478-4T=)
c.233-4T=
n.233-4T=
c.2556-4T=
c.155-4T=
c.3529-4T= (n.3529-4T=)
c.3064-4T= (n.3064-4T=)
18g.23534563A>CCA2290163376NPC1c.3478-4T>G (n.3478-4T>G)
c.233-4T>G
n.233-4T>G
c.2556-4T>G
c.155-4T>G
c.3529-4T>G (n.3529-4T>G)
c.3064-4T>G (n.3064-4T>G)
 dbSNP
18g.23534563A>GCA2697555329NPC1c.3478-4T>C (n.3478-4T>C)
c.233-4T>C
n.233-4T>C
c.2556-4T>C
c.155-4T>C
c.3529-4T>C (n.3529-4T>C)
c.3064-4T>C (n.3064-4T>C)
 ClinVar
18g.23534564A>CCA2641278145NPC1c.3478-5T>G (n.3478-5T>G)
c.233-5T>G
n.233-5T>G
c.2556-5T>G
c.155-5T>G
c.3529-5T>G (n.3529-5T>G)
c.3064-5T>G (n.3064-5T>G)
 gnomAD v4
18g.23534565A=CA2290163377NPC1c.3478-6T= (n.3478-6T=)
c.233-6T=
n.233-6T=
c.2556-6T=
c.155-6T=
c.3529-6T= (n.3529-6T=)
c.3064-6T= (n.3064-6T=)
18g.23534565A>CCA2641278149NPC1c.3478-6T>G (n.3478-6T>G)
c.233-6T>G
n.233-6T>G
c.2556-6T>G
c.155-6T>G
c.3529-6T>G (n.3529-6T>G)
c.3064-6T>G (n.3064-6T>G)
 gnomAD v4
18g.23534565A>GCA628677483NPC1c.3478-6T>C (n.3478-6T>C)
c.233-6T>C
n.233-6T>C
c.2556-6T>C
c.155-6T>C
c.3529-6T>C (n.3529-6T>C)
c.3064-6T>C (n.3064-6T>C)
 dbSNP gnomAD v2
18g.23534565A>TCA915952487NPC1c.3478-6T>A (n.3478-6T>A)
c.233-6T>A
n.233-6T>A
c.2556-6T>A
c.155-6T>A
c.3529-6T>A (n.3529-6T>A)
c.3064-6T>A (n.3064-6T>A)
 ClinVar dbSNP gnomAD v4
18g.23534566T>CCA8912748NPC1c.3478-7A>G (n.3478-7A>G)
c.233-7A>G
n.233-7A>G
c.2556-7A>G
c.155-7A>G
c.3529-7A>G (n.3529-7A>G)
c.3064-7A>G (n.3064-7A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23534566T>GCA8912749NPC1c.3478-7A>C (n.3478-7A>C)
c.233-7A>C
n.233-7A>C
c.2556-7A>C
c.155-7A>C
c.3529-7A>C (n.3529-7A>C)
c.3064-7A>C (n.3064-7A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23534566T=CA2290163378NPC1c.3478-7A= (n.3478-7A=)
c.233-7A=
n.233-7A=
c.2556-7A=
c.155-7A=
c.3529-7A= (n.3529-7A=)
c.3064-7A= (n.3064-7A=)
18g.23534567A>GCA2697555330NPC1c.3478-8T>C (n.3478-8T>C)
c.233-8T>C
n.233-8T>C
c.2556-8T>C
c.155-8T>C
c.3529-8T>C (n.3529-8T>C)
c.3064-8T>C (n.3064-8T>C)
 ClinVar
18g.23534569dupCA628677484NPC1c.3478-8dup (n.3478-8dup)
c.233-8dup
n.233-8dup
c.2556-8dup
c.155-8dup
c.3529-8dup (n.3529-8dup)
c.3064-8dup (n.3064-8dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23534568A=CA2290163379NPC1c.3478-9T= (n.3478-9T=)
c.233-9T=
n.233-9T=
c.2556-9T=
c.155-9T=
c.3529-9T= (n.3529-9T=)
c.3064-9T= (n.3064-9T=)
18g.23534568A>CCA777715156NPC1c.3478-9T>G (n.3478-9T>G)
c.233-9T>G
n.233-9T>G
c.2556-9T>G
c.155-9T>G
c.3529-9T>G (n.3529-9T>G)
c.3064-9T>G (n.3064-9T>G)
 dbSNP gnomAD v3 gnomAD v4
18g.23534570G=CA2290163380NPC1c.3478-11C= (n.3478-11C=)
c.233-11C=
n.233-11C=
c.2556-11C=
c.155-11C=
c.3529-11C= (n.3529-11C=)
c.3064-11C= (n.3064-11C=)
18g.23534570G>TCA988381435NPC1c.3478-11C>A (n.3478-11C>A)
c.233-11C>A
n.233-11C>A
c.2556-11C>A
c.155-11C>A
c.3529-11C>A (n.3529-11C>A)
c.3064-11C>A (n.3064-11C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23534571C>GCA2641278151NPC1c.3478-12G>C (n.3478-12G>C)
c.233-12G>C
n.233-12G>C
c.2556-12G>C
c.155-12G>C
c.3529-12G>C (n.3529-12G>C)
c.3064-12G>C (n.3064-12G>C)
 gnomAD v4
18g.23534571C>TCA2580095532NPC1c.3478-12G>A (n.3478-12G>A)
c.233-12G>A
n.233-12G>A
c.2556-12G>A
c.155-12G>A
c.3529-12G>A (n.3529-12G>A)
c.3064-12G>A (n.3064-12G>A)
 ClinVar gnomAD v4

Number of alleles fetched