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.23535474_23535486delinsCCAGGTTGACCAACA2290163844NPC1c.3460_3472delinsTTGGTCAACCTGG (p.Leu1154=)
c.215_227delinsTTGGTCAACCTGG
n.215_227delinsTTGGTCAACCTGG
c.2538_2550delinsTTGGTCAACCTGG
c.137_149delinsTTGGTCAACCTGG
c.3511_3523delinsTTGGTCAACCTGG (p.Leu1171=)
c.3046_3058delinsTTGGTCAACCTGG (p.Leu1016=)
18g.23535475_23535486delCA1139665976NPC1c.3460_3471del (p.Leu1154_Leu1157del)
c.215_226del
n.215_226del
c.2538_2549del
c.137_148del
c.3511_3522del (p.Leu1171_Leu1174del)
c.3046_3057del (p.Leu1016_Leu1019del)
 ClinVar dbSNP
18g.23535486A=CA2290163851NPC1c.3460T= (p.Leu1154=)
c.215T=
n.215T=
c.2538T=
c.137T=
c.3511T= (p.Leu1171=)
c.3046T= (p.Leu1016=)
18g.23535486A>CCA401791152NPC1c.3460T>G (p.Leu1154Val)
c.215T>G
n.215T>G
c.2538T>G
c.137T>G
c.3511T>G (p.Leu1171Val)
c.3046T>G (p.Leu1016Val)
18g.23535486A>GCA503521653NPC1c.3460T>C (p.Leu1154=)
c.215T>C
n.215T>C
c.2538T>C
c.137T>C
c.3511T>C (p.Leu1171=)
c.3046T>C (p.Leu1016=)
 dbSNP gnomAD v2 gnomAD v4
18g.23535486A>TCA401791153NPC1c.3460T>A (p.Leu1154Met)
c.215T>A
n.215T>A
c.2538T>A
c.137T>A
c.3511T>A (p.Leu1171Met)
c.3046T>A (p.Leu1016Met)
18g.23535487G>ACA503521654NPC1c.3459C>T (p.Ser1153=)
c.214C>T
n.214C>T
c.2537C>T
c.136C>T
c.3510C>T (p.Ser1170=)
c.3045C>T (p.Ser1015=)
18g.23535487G>CCA503521655NPC1c.3459C>G (p.Ser1153=)
c.214C>G
n.214C>G
c.2537C>G
c.136C>G
c.3510C>G (p.Ser1170=)
c.3045C>G (p.Ser1015=)
18g.23535487G=CA2290163852NPC1c.3459C= (p.Ser1153=)
c.214C=
n.214C=
c.2537C=
c.136C=
c.3510C= (p.Ser1170=)
c.3045C= (p.Ser1015=)
18g.23535487G>TCA503521656NPC1c.3459C>A (p.Ser1153=)
c.214C>A
n.214C>A
c.2537C>A
c.136C>A
c.3510C>A (p.Ser1170=)
c.3045C>A (p.Ser1015=)
18g.23535488G>ACA401791154NPC1c.3458C>T (p.Ser1153Phe)
c.213C>T
n.213C>T
c.2536C>T
c.135C>T
c.3509C>T (p.Ser1170Phe)
c.3044C>T (p.Ser1015Phe)
18g.23535488G>CCA401791155NPC1c.3458C>G (p.Ser1153Cys)
c.213C>G
n.213C>G
c.2536C>G
c.135C>G
c.3509C>G (p.Ser1170Cys)
c.3044C>G (p.Ser1015Cys)
18g.23535488G>TCA401791156NPC1c.3458C>A (p.Ser1153Tyr)
c.213C>A
n.213C>A
c.2536C>A
c.135C>A
c.3509C>A (p.Ser1170Tyr)
c.3044C>A (p.Ser1015Tyr)
18g.23535488_23535489dupCA628978705NPC1c.3457_3458dup (p.Leu1154ProfsTer6)
c.212_213dup
n.212_213dup
c.2535_2536dup
c.134_135dup
c.3508_3509dup (p.Leu1171ProfsTer6)
c.3043_3044dup (p.Leu1016ProfsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23535489A>CCA401791157NPC1c.3457T>G (p.Ser1153Ala)
c.212T>G
n.212T>G
c.2535T>G
c.134T>G
c.3508T>G (p.Ser1170Ala)
c.3043T>G (p.Ser1015Ala)
18g.23535489A>GCA401791158NPC1c.3457T>C (p.Ser1153Pro)
c.212T>C
n.212T>C
c.2535T>C
c.134T>C
c.3508T>C (p.Ser1170Pro)
c.3043T>C (p.Ser1015Pro)
18g.23535489A>TCA401791159NPC1c.3457T>A (p.Ser1153Thr)
c.212T>A
n.212T>A
c.2535T>A
c.134T>A
c.3508T>A (p.Ser1170Thr)
c.3043T>A (p.Ser1015Thr)
18g.23535490T>ACA503521657NPC1c.3456A>T (p.Val1152=)
c.211A>T
n.211A>T
c.2534A>T
c.133A>T
c.3507A>T (p.Val1169=)
c.3042A>T (p.Val1014=)
18g.23535490T>CCA503521659NPC1c.3456A>G (p.Val1152=)
c.211A>G
n.211A>G
c.2534A>G
c.133A>G
c.3507A>G (p.Val1169=)
c.3042A>G (p.Val1014=)
 ClinVar dbSNP gnomAD v4
18g.23535490T>GCA503521658NPC1c.3456A>C (p.Val1152=)
c.211A>C
n.211A>C
c.2534A>C
c.133A>C
c.3507A>C (p.Val1169=)
c.3042A>C (p.Val1014=)
18g.23535490T=CA2290163853NPC1c.3456A= (p.Val1152=)
c.211A=
n.211A=
c.2534A=
c.133A=
c.3507A= (p.Val1169=)
c.3042A= (p.Val1014=)
18g.23535491A>CCA401791162NPC1c.3455T>G (p.Val1152Gly)
c.210T>G
n.210T>G
c.2533T>G
c.132T>G
c.3506T>G (p.Val1169Gly)
c.3041T>G (p.Val1014Gly)
18g.23535491A>GCA401791161NPC1c.3455T>C (p.Val1152Ala)
c.210T>C
n.210T>C
c.2533T>C
c.132T>C
c.3506T>C (p.Val1169Ala)
c.3041T>C (p.Val1014Ala)
 gnomAD v4
18g.23535491A>TCA401791160NPC1c.3455T>A (p.Val1152Glu)
c.210T>A
n.210T>A
c.2533T>A
c.132T>A
c.3506T>A (p.Val1169Glu)
c.3041T>A (p.Val1014Glu)
18g.23535492C>ACA401791163NPC1c.3454G>T (p.Val1152Leu)
c.209G>T
n.209G>T
c.2532G>T
c.131G>T
c.3505G>T (p.Val1169Leu)
c.3040G>T (p.Val1014Leu)
18g.23535492C=CA2290163854NPC1c.3454G= (p.Val1152=)
c.209G=
n.209G=
c.2532G=
c.131G=
c.3505G= (p.Val1169=)
c.3040G= (p.Val1014=)
18g.23535492C>GCA401791164NPC1c.3454G>C (p.Val1152Leu)
c.209G>C
n.209G>C
c.2532G>C
c.131G>C
c.3505G>C (p.Val1169Leu)
c.3040G>C (p.Val1014Leu)
18g.23535492C>TCA401791165NPC1c.3454G>A (p.Val1152Ile)
c.209G>A
n.209G>A
c.2532G>A
c.131G>A
c.3505G>A (p.Val1169Ile)
c.3040G>A (p.Val1014Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535493A>CCA503521660NPC1c.3453T>G (p.Ala1151=)
c.208T>G
n.208T>G
c.2531T>G
c.130T>G
c.3504T>G (p.Ala1168=)
c.3039T>G (p.Ala1013=)
18g.23535493A>GCA503521661NPC1c.3453T>C (p.Ala1151=)
c.208T>C
n.208T>C
c.2531T>C
c.130T>C
c.3504T>C (p.Ala1168=)
c.3039T>C (p.Ala1013=)
 gnomAD v4
18g.23535493A>TCA503521662NPC1c.3453T>A (p.Ala1151=)
c.208T>A
n.208T>A
c.2531T>A
c.130T>A
c.3504T>A (p.Ala1168=)
c.3039T>A (p.Ala1013=)
 ClinVar gnomAD v4
18g.23535494G>ACA401791166NPC1c.3452C>T (p.Ala1151Val)
c.207C>T
n.207C>T
c.2530C>T
c.129C>T
c.3503C>T (p.Ala1168Val)
c.3038C>T (p.Ala1013Val)
18g.23535494G>CCA401791167NPC1c.3452C>G (p.Ala1151Gly)
c.207C>G
n.207C>G
c.2530C>G
c.129C>G
c.3503C>G (p.Ala1168Gly)
c.3038C>G (p.Ala1013Gly)
18g.23535494G>TCA401791168NPC1c.3452C>A (p.Ala1151Asp)
c.207C>A
n.207C>A
c.2530C>A
c.129C>A
c.3503C>A (p.Ala1168Asp)
c.3038C>A (p.Ala1013Asp)
18g.23535495C>ACA401791169NPC1c.3451G>T (p.Ala1151Ser)
c.206G>T
n.206G>T
c.2529G>T
c.128G>T
c.3502G>T (p.Ala1168Ser)
c.3037G>T (p.Ala1013Ser)
 ClinVar dbSNP gnomAD v4
18g.23535495C=CA2290163855NPC1c.3451G= (p.Ala1151=)
c.206G=
n.206G=
c.2529G=
c.128G=
c.3502G= (p.Ala1168=)
c.3037G= (p.Ala1013=)
18g.23535495C>GCA401791170NPC1c.3451G>C (p.Ala1151Pro)
c.206G>C
n.206G>C
c.2529G>C
c.128G>C
c.3502G>C (p.Ala1168Pro)
c.3037G>C (p.Ala1013Pro)
18g.23535495C>TCA8912773NPC1c.3451G>A (p.Ala1151Thr)
c.206G>A
n.206G>A
c.2529G>A
c.128G>A
c.3502G>A (p.Ala1168Thr)
c.3037G>A (p.Ala1013Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23535496G>ACA8912774NPC1c.3450C>T (p.Asn1150=)
c.205C>T
n.205C>T
c.2528C>T
c.127C>T
c.3501C>T (p.Asn1167=)
c.3036C>T (p.Asn1012=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23535496G>CCA401791171NPC1c.3450C>G (p.Asn1150Lys)
c.205C>G
n.205C>G
c.2528C>G
c.127C>G
c.3501C>G (p.Asn1167Lys)
c.3036C>G (p.Asn1012Lys)
18g.23535496G=CA2290163856NPC1c.3450C= (p.Asn1150=)
c.205C=
n.205C=
c.2528C=
c.127C=
c.3501C= (p.Asn1167=)
c.3036C= (p.Asn1012=)
18g.23535496G>TCA297079142NPC1c.3450C>A (p.Asn1150Lys)
c.205C>A
n.205C>A
c.2528C>A
c.127C>A
c.3501C>A (p.Asn1167Lys)
c.3036C>A (p.Asn1012Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23535497T>ACA401791174NPC1c.3449A>T (p.Asn1150Ile)
c.204A>T
n.204A>T
c.2527A>T
c.126A>T
c.3500A>T (p.Asn1167Ile)
c.3035A>T (p.Asn1012Ile)
18g.23535497T>CCA401791173NPC1c.3449A>G (p.Asn1150Ser)
c.204A>G
n.204A>G
c.2527A>G
c.126A>G
c.3500A>G (p.Asn1167Ser)
c.3035A>G (p.Asn1012Ser)
18g.23535497T>GCA401791172NPC1c.3449A>C (p.Asn1150Thr)
c.204A>C
n.204A>C
c.2527A>C
c.126A>C
c.3500A>C (p.Asn1167Thr)
c.3035A>C (p.Asn1012Thr)
18g.23535498T>ACA401791177NPC1c.3448A>T (p.Asn1150Tyr)
c.203A>T
n.203A>T
c.2526A>T
c.125A>T
c.3499A>T (p.Asn1167Tyr)
c.3034A>T (p.Asn1012Tyr)
18g.23535498T>CCA401791175NPC1c.3448A>G (p.Asn1150Asp)
c.203A>G
n.203A>G
c.2526A>G
c.125A>G
c.3499A>G (p.Asn1167Asp)
c.3034A>G (p.Asn1012Asp)
18g.23535498T>GCA401791176NPC1c.3448A>C (p.Asn1150His)
c.203A>C
n.203A>C
c.2526A>C
c.125A>C
c.3499A>C (p.Asn1167His)
c.3034A>C (p.Asn1012His)
18g.23535499C>ACA503521663NPC1c.3447G>T (p.Leu1149=)
c.202G>T
n.202G>T
c.2525G>T
c.124G>T
c.3498G>T (p.Leu1166=)
c.3033G>T (p.Leu1011=)

Number of alleles fetched