Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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=)
18g.23538611delCA628677789NPC1c.2972del (p.Gln991ArgfsTer6)
c.2050del
n.605del
n.315del
c.3023del (p.Gln1008ArgfsTer6)
c.2558del (p.Gln853ArgfsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23538611T>ACA401792223NPC1c.2972A>T (p.Gln991Leu)
c.2050A>T
n.605A>T
n.315A>T
c.3023A>T (p.Gln1008Leu)
c.2558A>T (p.Gln853Leu)
18g.23538611T>CCA297080746NPC1c.2972A>G (p.Gln991Arg)
c.2050A>G
n.605A>G
n.315A>G
c.3023A>G (p.Gln1008Arg)
c.2558A>G (p.Gln853Arg)
 dbSNP gnomAD v4
18g.23538611T>GCA401792224NPC1c.2972A>C (p.Gln991Pro)
c.2050A>C
n.605A>C
n.315A>C
c.3023A>C (p.Gln1008Pro)
c.2558A>C (p.Gln853Pro)
18g.23538611T=CA2290165374NPC1c.2972A= (p.Gln991=)
c.2050A=
n.605A=
n.315A=
c.3023A= (p.Gln1008=)
c.2558A= (p.Gln853=)
18g.23538612G>ACA401792225NPC1c.2971C>T (p.Gln991Ter)
c.2049C>T
n.604C>T
n.314C>T
c.3022C>T (p.Gln1008Ter)
c.2557C>T (p.Gln853Ter)
18g.23538612G>CCA401792226NPC1c.2971C>G (p.Gln991Glu)
c.2049C>G
n.604C>G
n.314C>G
c.3022C>G (p.Gln1008Glu)
c.2557C>G (p.Gln853Glu)
18g.23538612G>TCA401792227NPC1c.2971C>A (p.Gln991Lys)
c.2049C>A
n.604C>A
n.314C>A
c.3022C>A (p.Gln1008Lys)
c.2557C>A (p.Gln853Lys)
18g.23538613A>CCA503322483NPC1c.2970T>G (p.Pro990=)
c.2048T>G
n.603T>G
n.313T>G
c.3021T>G (p.Pro1007=)
c.2556T>G (p.Pro852=)
18g.23538613A>GCA503322485NPC1c.2970T>C (p.Pro990=)
c.2048T>C
n.603T>C
n.313T>C
c.3021T>C (p.Pro1007=)
c.2556T>C (p.Pro852=)
18g.23538613A>TCA503322484NPC1c.2970T>A (p.Pro990=)
c.2048T>A
n.603T>A
n.313T>A
c.3021T>A (p.Pro1007=)
c.2556T>A (p.Pro852=)
18g.23538614G>ACA401792228NPC1c.2969C>T (p.Pro990Leu)
c.2047C>T
n.602C>T
n.312C>T
c.3020C>T (p.Pro1007Leu)
c.2555C>T (p.Pro852Leu)
 gnomAD v4
18g.23538614G>CCA401792229NPC1c.2969C>G (p.Pro990Arg)
c.2047C>G
n.602C>G
n.312C>G
c.3020C>G (p.Pro1007Arg)
c.2555C>G (p.Pro852Arg)
18g.23538614G>TCA401792230NPC1c.2969C>A (p.Pro990His)
c.2047C>A
n.602C>A
n.312C>A
c.3020C>A (p.Pro1007His)
c.2555C>A (p.Pro852His)
18g.23538615G>ACA401792231NPC1c.2968C>T (p.Pro990Ser)
c.2046C>T
n.601C>T
n.311C>T
c.3019C>T (p.Pro1007Ser)
c.2554C>T (p.Pro852Ser)
18g.23538615G>CCA401792232NPC1c.2968C>G (p.Pro990Ala)
c.2046C>G
n.601C>G
n.311C>G
c.3019C>G (p.Pro1007Ala)
c.2554C>G (p.Pro852Ala)
18g.23538615G>TCA401792233NPC1c.2968C>A (p.Pro990Thr)
c.2046C>A
n.601C>A
n.311C>A
c.3019C>A (p.Pro1007Thr)
c.2554C>A (p.Pro852Thr)
 gnomAD v4
18g.23538616C>ACA401792235NPC1c.2967G>T (p.Arg989Ser)
c.2045G>T
n.600G>T
n.310G>T
c.3018G>T (p.Arg1006Ser)
c.2553G>T (p.Arg851Ser)
18g.23538616C>GCA401792234NPC1c.2967G>C (p.Arg989Ser)
c.2045G>C
n.600G>C
n.310G>C
c.3018G>C (p.Arg1006Ser)
c.2553G>C (p.Arg851Ser)
18g.23538616C>TCA503322486NPC1c.2967G>A (p.Arg989=)
c.2045G>A
n.600G>A
n.310G>A
c.3018G>A (p.Arg1006=)
c.2553G>A (p.Arg851=)
 ClinVar dbSNP
18g.23538616_23538618delinsCCTCA2290165375NPC1c.2965_2967delinsAGG (p.Arg989=)
c.2043_2045delinsAGG
n.598_600delinsAGG
n.308_310delinsAGG
c.3016_3018delinsAGG (p.Arg1006=)
c.2551_2553delinsAGG (p.Arg851=)
18g.23538617_23538619delCA913014987NPC1c.2965_2967del (p.Arg989del)
c.2043_2045del
n.598_600del
n.308_310del
c.3016_3018del (p.Arg1006del)
c.2551_2553del (p.Arg851del)
18g.23538617C>ACA401792236NPC1c.2966G>T (p.Arg989Met)
c.2044G>T
n.599G>T
n.309G>T
c.3017G>T (p.Arg1006Met)
c.2552G>T (p.Arg851Met)
18g.23538617C>GCA401792238NPC1c.2966G>C (p.Arg989Thr)
c.2044G>C
n.599G>C
n.309G>C
c.3017G>C (p.Arg1006Thr)
c.2552G>C (p.Arg851Thr)
18g.23538617C>TCA401792237NPC1c.2966G>A (p.Arg989Lys)
c.2044G>A
n.599G>A
n.309G>A
c.3017G>A (p.Arg1006Lys)
c.2552G>A (p.Arg851Lys)
 gnomAD v4
18g.23538619_23538620delCA658824814NPC1c.2965_2966del (p.Arg989AlafsTer17)
c.2043_2044del
n.598_599del
n.308_309del
c.3016_3017del (p.Arg1006AlafsTer17)
c.2551_2552del (p.Arg851AlafsTer17)
 ClinVar dbSNP gnomAD v4
18g.23538618T>ACA401792239NPC1c.2965A>T (p.Arg989Trp)
c.2043A>T
n.598A>T
n.308A>T
c.3016A>T (p.Arg1006Trp)
c.2551A>T (p.Arg851Trp)
18g.23538618T>CCA401792240NPC1c.2965A>G (p.Arg989Gly)
c.2043A>G
n.598A>G
n.308A>G
c.3016A>G (p.Arg1006Gly)
c.2551A>G (p.Arg851Gly)
18g.23538618T>GCA503322487NPC1c.2965A>C (p.Arg989=)
c.2043A>C
n.598A>C
n.308A>C
c.3016A>C (p.Arg1006=)
c.2551A>C (p.Arg851=)
 gnomAD v4
18g.23538619C>ACA401792241NPC1c.2964G>T (p.Gln988His)
c.2042G>T
n.597G>T
n.307G>T
c.3015G>T (p.Gln1005His)
c.2550G>T (p.Gln850His)
18g.23538619C>GCA401792242NPC1c.2964G>C (p.Gln988His)
c.2042G>C
n.597G>C
n.307G>C
c.3015G>C (p.Gln1005His)
c.2550G>C (p.Gln850His)
18g.23538619C>TCA503322488NPC1c.2964G>A (p.Gln988=)
c.2042G>A
n.597G>A
n.307G>A
c.3015G>A (p.Gln1005=)
c.2550G>A (p.Gln850=)
 gnomAD v4
18g.23538620T>ACA401792243NPC1c.2963A>T (p.Gln988Leu)
c.2041A>T
n.596A>T
n.306A>T
c.3014A>T (p.Gln1005Leu)
c.2549A>T (p.Gln850Leu)
18g.23538620T>CCA401792244NPC1c.2963A>G (p.Gln988Arg)
c.2041A>G
n.596A>G
n.306A>G
c.3014A>G (p.Gln1005Arg)
c.2549A>G (p.Gln850Arg)
18g.23538620T>GCA401792245NPC1c.2963A>C (p.Gln988Pro)
c.2041A>C
n.596A>C
n.306A>C
c.3014A>C (p.Gln1005Pro)
c.2549A>C (p.Gln850Pro)
18g.23538622_23538625delCA2573155196NPC1c.2960_2963del (p.Lys987ArgfsTer9)
c.2038_2041del
n.593_596del
n.303_306del
c.3011_3014del (p.Lys1004ArgfsTer9)
c.2546_2549del (p.Lys849ArgfsTer9)
 ClinVar dbSNP
18g.23538621G>ACA401792246NPC1c.2962C>T (p.Gln988Ter)
c.2040C>T
n.595C>T
n.305C>T
c.3013C>T (p.Gln1005Ter)
c.2548C>T (p.Gln850Ter)
18g.23538621G>CCA401792247NPC1c.2962C>G (p.Gln988Glu)
c.2040C>G
n.595C>G
n.305C>G
c.3013C>G (p.Gln1005Glu)
c.2548C>G (p.Gln850Glu)
18g.23538621G>TCA401792248NPC1c.2962C>A (p.Gln988Lys)
c.2040C>A
n.595C>A
n.305C>A
c.3013C>A (p.Gln1005Lys)
c.2548C>A (p.Gln850Lys)
18g.23538621dupCA2641271718NPC1c.2962dup (p.Gln988ProfsTer19)
c.2040dup
n.595dup
n.305dup
c.3013dup (p.Gln1005ProfsTer19)
c.2548dup (p.Gln850ProfsTer19)
 gnomAD v4
18g.23538622T>ACA401792249NPC1c.2961A>T (p.Lys987Asn)
c.2039A>T
n.594A>T
n.304A>T
c.3012A>T (p.Lys1004Asn)
c.2547A>T (p.Lys849Asn)
18g.23538622T>CCA503322489NPC1c.2961A>G (p.Lys987=)
c.2039A>G
n.594A>G
n.304A>G
c.3012A>G (p.Lys1004=)
c.2547A>G (p.Lys849=)
 ClinVar dbSNP gnomAD v4
18g.23538622T>GCA401792250NPC1c.2961A>C (p.Lys987Asn)
c.2039A>C
n.594A>C
n.304A>C
c.3012A>C (p.Lys1004Asn)
c.2547A>C (p.Lys849Asn)
18g.23538623T>ACA401792253NPC1c.2960A>T (p.Lys987Ile)
c.2038A>T
n.593A>T
n.303A>T
c.3011A>T (p.Lys1004Ile)
c.2546A>T (p.Lys849Ile)
18g.23538623T>CCA401792251NPC1c.2960A>G (p.Lys987Arg)
c.2038A>G
n.593A>G
n.303A>G
c.3011A>G (p.Lys1004Arg)
c.2546A>G (p.Lys849Arg)
18g.23538623T>GCA401792252NPC1c.2960A>C (p.Lys987Thr)
c.2038A>C
n.593A>C
n.303A>C
c.3011A>C (p.Lys1004Thr)
c.2546A>C (p.Lys849Thr)
18g.23538624T>ACA401792254NPC1c.2959A>T (p.Lys987Ter)
c.2037A>T
n.592A>T
n.302A>T
c.3010A>T (p.Lys1004Ter)
c.2545A>T (p.Lys849Ter)
18g.23538624T>CCA401792255NPC1c.2959A>G (p.Lys987Glu)
c.2037A>G
n.592A>G
n.302A>G
c.3010A>G (p.Lys1004Glu)
c.2545A>G (p.Lys849Glu)
 gnomAD v4
18g.23538624T>GCA297080747NPC1c.2959A>C (p.Lys987Gln)
c.2037A>C
n.592A>C
n.302A>C
c.3010A>C (p.Lys1004Gln)
c.2545A>C (p.Lys849Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23538624T=CA2290165376NPC1c.2959A= (p.Lys987=)
c.2037A=
n.592A=
n.302A=
c.3010A= (p.Lys1004=)
c.2545A= (p.Lys849=)
18g.23538625G>ACA503322490NPC1c.2958C>T (p.Gly986=)
c.2036C>T
n.591C>T
n.301C>T
c.3009C>T (p.Gly1003=)
c.2544C>T (p.Gly848=)
 ClinVar dbSNP
18g.23538625G>CCA503322491NPC1c.2958C>G (p.Gly986=)
c.2036C>G
n.591C>G
n.301C>G
c.3009C>G (p.Gly1003=)
c.2544C>G (p.Gly848=)
18g.23538625G=CA2290165377NPC1c.2958C= (p.Gly986=)
c.2036C=
n.591C=
n.301C=
c.3009C= (p.Gly1003=)
c.2544C= (p.Gly848=)
18g.23538625G>TCA503322492NPC1c.2958C>A (p.Gly986=)
c.2036C>A
n.591C>A
n.301C>A
c.3009C>A (p.Gly1003=)
c.2544C>A (p.Gly848=)
18g.23538626C>ACA401792256NPC1c.2957G>T (p.Gly986Val)
c.2035G>T
n.590G>T
n.300G>T
c.3008G>T (p.Gly1003Val)
c.2543G>T (p.Gly848Val)
18g.23538626C>GCA401792257NPC1c.2957G>C (p.Gly986Ala)
c.2035G>C
n.590G>C
n.300G>C
c.3008G>C (p.Gly1003Ala)
c.2543G>C (p.Gly848Ala)
18g.23538626C>TCA401792258NPC1c.2957G>A (p.Gly986Asp)
c.2035G>A
n.590G>A
n.300G>A
c.3008G>A (p.Gly1003Asp)
c.2543G>A (p.Gly848Asp)
18g.23538627C>ACA401792259NPC1c.2956G>T (p.Gly986Cys)
c.2034G>T
n.589G>T
n.299G>T
c.3007G>T (p.Gly1003Cys)
c.2542G>T (p.Gly848Cys)
18g.23538627C=CA2290165378NPC1c.2956G= (p.Gly986=)
c.2034G=
n.589G=
n.299G=
c.3007G= (p.Gly1003=)
c.2542G= (p.Gly848=)
18g.23538627C>GCA401792260NPC1c.2956G>C (p.Gly986Arg)
c.2034G>C
n.589G>C
n.299G>C
c.3007G>C (p.Gly1003Arg)
c.2542G>C (p.Gly848Arg)
18g.23538627C>TCA401792261NPC1c.2956G>A (p.Gly986Ser)
c.2034G>A
n.589G>A
n.299G>A
c.3007G>A (p.Gly1003Ser)
c.2542G>A (p.Gly848Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23538628T>ACA8912903NPC1c.2955A>T (p.Glu985Asp)
c.2033A>T
n.588A>T
n.298A>T
c.3006A>T (p.Glu1002Asp)
c.2541A>T (p.Glu847Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538628T>CCA503322493NPC1c.2955A>G (p.Glu985=)
c.2033A>G
n.588A>G
n.298A>G
c.3006A>G (p.Glu1002=)
c.2541A>G (p.Glu847=)
18g.23538628T>GCA401792262NPC1c.2955A>C (p.Glu985Asp)
c.2033A>C
n.588A>C
n.298A>C
c.3006A>C (p.Glu1002Asp)
c.2541A>C (p.Glu847Asp)
18g.23538628T=CA2290165379NPC1c.2955A= (p.Glu985=)
c.2033A=
n.588A=
n.298A=
c.3006A= (p.Glu1002=)
c.2541A= (p.Glu847=)
18g.23538629T>ACA401792264NPC1c.2954A>T (p.Glu985Val)
c.2032A>T
n.587A>T
n.297A>T
c.3005A>T (p.Glu1002Val)
c.2540A>T (p.Glu847Val)
18g.23538629T>CCA401792265NPC1c.2954A>G (p.Glu985Gly)
c.2032A>G
n.587A>G
n.297A>G
c.3005A>G (p.Glu1002Gly)
c.2540A>G (p.Glu847Gly)
18g.23538629T>GCA401792263NPC1c.2954A>C (p.Glu985Ala)
c.2032A>C
n.587A>C
n.297A>C
c.3005A>C (p.Glu1002Ala)
c.2540A>C (p.Glu847Ala)
18g.23538629_23538630insACA2573155197NPC1c.2953_2954insT (p.Glu985ValfsTer22)
c.2031_2032insT
n.586_587insT
n.296_297insT
c.3004_3005insT (p.Glu1002ValfsTer22)
c.2539_2540insT (p.Glu847ValfsTer22)
 ClinVar dbSNP
18g.23538630C>ACA401792266NPC1c.2953G>T (p.Glu985Ter)
c.2031G>T
n.586G>T
n.296G>T
c.3004G>T (p.Glu1002Ter)
c.2539G>T (p.Glu847Ter)
18g.23538630C=CA2290165380NPC1c.2953G= (p.Glu985=)
c.2031G=
n.586G=
n.296G=
c.3004G= (p.Glu1002=)
c.2539G= (p.Glu847=)
18g.23538630C>GCA401792267NPC1c.2953G>C (p.Glu985Gln)
c.2031G>C
n.586G>C
n.296G>C
c.3004G>C (p.Glu1002Gln)
c.2539G>C (p.Glu847Gln)
 dbSNP gnomAD v3 gnomAD v4
18g.23538630C>TCA401792268NPC1c.2953G>A (p.Glu985Lys)
c.2031G>A
n.586G>A
n.296G>A
c.3004G>A (p.Glu1002Lys)
c.2539G>A (p.Glu847Lys)
 COSMIC COSMIC
18g.23538631C>ACA503322494NPC1c.2952G>T (p.Pro984=)
c.2030G>T
n.585G>T
n.295G>T
c.3003G>T (p.Pro1001=)
c.2538G>T (p.Pro846=)
18g.23538631C=CA2290165381NPC1c.2952G= (p.Pro984=)
c.2030G=
n.585G=
n.295G=
c.3003G= (p.Pro1001=)
c.2538G= (p.Pro846=)
18g.23538631C>GCA503322495NPC1c.2952G>C (p.Pro984=)
c.2030G>C
n.585G>C
n.295G>C
c.3003G>C (p.Pro1001=)
c.2538G>C (p.Pro846=)
18g.23538631C>TCA8912904NPC1c.2952G>A (p.Pro984=)
c.2030G>A
n.585G>A
n.295G>A
c.3003G>A (p.Pro1001=)
c.2538G>A (p.Pro846=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538632G>ACA8912905NPC1c.2951C>T (p.Pro984Leu)
c.2029C>T
n.584C>T
n.294C>T
c.3002C>T (p.Pro1001Leu)
c.2537C>T (p.Pro846Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538632G>CCA401792269NPC1c.2951C>G (p.Pro984Arg)
c.2029C>G
n.584C>G
n.294C>G
c.3002C>G (p.Pro1001Arg)
c.2537C>G (p.Pro846Arg)
18g.23538632G=CA2290165382NPC1c.2951C= (p.Pro984=)
c.2029C=
n.584C=
n.294C=
c.3002C= (p.Pro1001=)
c.2537C= (p.Pro846=)
18g.23538632G>TCA401792270NPC1c.2951C>A (p.Pro984Gln)
c.2029C>A
n.584C>A
n.294C>A
c.3002C>A (p.Pro1001Gln)
c.2537C>A (p.Pro846Gln)
18g.23538633G>ACA401792271NPC1c.2950C>T (p.Pro984Ser)
c.2028C>T
n.583C>T
n.293C>T
c.3001C>T (p.Pro1001Ser)
c.2536C>T (p.Pro846Ser)
 COSMIC COSMIC
18g.23538633G>CCA297080749NPC1c.2950C>G (p.Pro984Ala)
c.2028C>G
n.583C>G
n.293C>G
c.3001C>G (p.Pro1001Ala)
c.2536C>G (p.Pro846Ala)
 ClinVar dbSNP
18g.23538633G=CA2290165383NPC1c.2950C= (p.Pro984=)
c.2028C=
n.583C=
n.293C=
c.3001C= (p.Pro1001=)
c.2536C= (p.Pro846=)
18g.23538633G>TCA401792272NPC1c.2950C>A (p.Pro984Thr)
c.2028C>A
n.583C>A
n.293C>A
c.3001C>A (p.Pro1001Thr)
c.2536C>A (p.Pro846Thr)
18g.23538634A=CA2290165384NPC1c.2949T= (p.Thr983=)
c.2027T=
n.582T=
n.292T=
c.3000T= (p.Thr1000=)
c.2535T= (p.Thr845=)
18g.23538634A>CCA503322498NPC1c.2949T>G (p.Thr983=)
c.2027T>G
n.582T>G
n.292T>G
c.3000T>G (p.Thr1000=)
c.2535T>G (p.Thr845=)
18g.23538634A>GCA503322497NPC1c.2949T>C (p.Thr983=)
c.2027T>C
n.582T>C
n.292T>C
c.3000T>C (p.Thr1000=)
c.2535T>C (p.Thr845=)
18g.23538634A>TCA503322496NPC1c.2949T>A (p.Thr983=)
c.2027T>A
n.582T>A
n.292T>A
c.3000T>A (p.Thr1000=)
c.2535T>A (p.Thr845=)
 dbSNP gnomAD v2 gnomAD v4
18g.23538635G>ACA401792273NPC1c.2948C>T (p.Thr983Ile)
c.2026C>T
n.581C>T
n.291C>T
c.2999C>T (p.Thr1000Ile)
c.2534C>T (p.Thr845Ile)
18g.23538635G>CCA401792274NPC1c.2948C>G (p.Thr983Ser)
c.2026C>G
n.581C>G
n.291C>G
c.2999C>G (p.Thr1000Ser)
c.2534C>G (p.Thr845Ser)
18g.23538635G>TCA401792275NPC1c.2948C>A (p.Thr983Asn)
c.2026C>A
n.581C>A
n.291C>A
c.2999C>A (p.Thr1000Asn)
c.2534C>A (p.Thr845Asn)
18g.23538636T>ACA401792278NPC1c.2947A>T (p.Thr983Ser)
c.2025A>T
n.580A>T
n.290A>T
c.2998A>T (p.Thr1000Ser)
c.2533A>T (p.Thr845Ser)
18g.23538636T>CCA401792277NPC1c.2947A>G (p.Thr983Ala)
c.2025A>G
n.580A>G
n.290A>G
c.2998A>G (p.Thr1000Ala)
c.2533A>G (p.Thr845Ala)
18g.23538636T>GCA401792276NPC1c.2947A>C (p.Thr983Pro)
c.2025A>C
n.580A>C
n.290A>C
c.2998A>C (p.Thr1000Pro)
c.2533A>C (p.Thr845Pro)
18g.23538637C>ACA503322499NPC1c.2946G>T (p.Leu982=)
c.2024G>T
n.579G>T
n.289G>T
c.2997G>T (p.Leu999=)
c.2532G>T (p.Leu844=)
18g.23538637C>GCA503322500NPC1c.2946G>C (p.Leu982=)
c.2024G>C
n.579G>C
n.289G>C
c.2997G>C (p.Leu999=)
c.2532G>C (p.Leu844=)
18g.23538637C>TCA503322501NPC1c.2946G>A (p.Leu982=)
c.2024G>A
n.579G>A
n.289G>A
c.2997G>A (p.Leu999=)
c.2532G>A (p.Leu844=)
18g.23538638A>CCA401792279NPC1c.2945T>G (p.Leu982Arg)
c.2023T>G
n.578T>G
n.288T>G
c.2996T>G (p.Leu999Arg)
c.2531T>G (p.Leu844Arg)
18g.23538638A>GCA401792280NPC1c.2945T>C (p.Leu982Pro)
c.2023T>C
n.578T>C
n.288T>C
c.2996T>C (p.Leu999Pro)
c.2531T>C (p.Leu844Pro)
 gnomAD v4
18g.23538638A>TCA401792281NPC1c.2945T>A (p.Leu982Gln)
c.2023T>A
n.578T>A
n.288T>A
c.2996T>A (p.Leu999Gln)
c.2531T>A (p.Leu844Gln)
18g.23538639G>ACA503322502NPC1c.2944C>T (p.Leu982=)
c.2022C>T
n.577C>T
n.287C>T
c.2995C>T (p.Leu999=)
c.2530C>T (p.Leu844=)
18g.23538639G>CCA401792282NPC1c.2944C>G (p.Leu982Val)
c.2022C>G
n.577C>G
n.287C>G
c.2995C>G (p.Leu999Val)
c.2530C>G (p.Leu844Val)
18g.23538639G>TCA401792283NPC1c.2944C>A (p.Leu982Met)
c.2022C>A
n.577C>A
n.287C>A
c.2995C>A (p.Leu999Met)
c.2530C>A (p.Leu844Met)
18g.23538640A>CCA503322503NPC1c.2943T>G (p.Pro981=)
c.2021T>G
n.576T>G
n.286T>G
c.2994T>G (p.Pro998=)
c.2529T>G (p.Pro843=)
18g.23538640A>GCA503322505NPC1c.2943T>C (p.Pro981=)
c.2021T>C
n.576T>C
n.286T>C
c.2994T>C (p.Pro998=)
c.2529T>C (p.Pro843=)
 ClinVar dbSNP
18g.23538640A>TCA503322504NPC1c.2943T>A (p.Pro981=)
c.2021T>A
n.576T>A
n.286T>A
c.2994T>A (p.Pro998=)
c.2529T>A (p.Pro843=)
 ClinVar dbSNP
18g.23538641G>ACA401792284NPC1c.2942C>T (p.Pro981Leu)
c.2020C>T
n.575C>T
n.285C>T
c.2993C>T (p.Pro998Leu)
c.2528C>T (p.Pro843Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23538641G>CCA401792285NPC1c.2942C>G (p.Pro981Arg)
c.2020C>G
n.575C>G
n.285C>G
c.2993C>G (p.Pro998Arg)
c.2528C>G (p.Pro843Arg)
18g.23538641G=CA2290165385NPC1c.2942C= (p.Pro981=)
c.2020C=
n.575C=
n.285C=
c.2993C= (p.Pro998=)
c.2528C= (p.Pro843=)
18g.23538641G>TCA401792286NPC1c.2942C>A (p.Pro981His)
c.2020C>A
n.575C>A
n.285C>A
c.2993C>A (p.Pro998His)
c.2528C>A (p.Pro843His)
18g.23538642G>ACA401792287NPC1c.2941C>T (p.Pro981Ser)
c.2019C>T
n.574C>T
n.284C>T
c.2992C>T (p.Pro998Ser)
c.2527C>T (p.Pro843Ser)
18g.23538642G>CCA401792288NPC1c.2941C>G (p.Pro981Ala)
c.2019C>G
n.574C>G
n.284C>G
c.2992C>G (p.Pro998Ala)
c.2527C>G (p.Pro843Ala)
18g.23538642G>TCA401792289NPC1c.2941C>A (p.Pro981Thr)
c.2019C>A
n.574C>A
n.284C>A
c.2992C>A (p.Pro998Thr)
c.2527C>A (p.Pro843Thr)
18g.23538643C>ACA401792290NPC1c.2940G>T (p.Arg980Ser)
c.2018G>T
n.573G>T
n.283G>T
c.2991G>T (p.Arg997Ser)
c.2526G>T (p.Arg842Ser)
18g.23538643C>GCA401792291NPC1c.2940G>C (p.Arg980Ser)
c.2018G>C
n.573G>C
n.283G>C
c.2991G>C (p.Arg997Ser)
c.2526G>C (p.Arg842Ser)
18g.23538643C>TCA503322506NPC1c.2940G>A (p.Arg980=)
c.2018G>A
n.573G>A
n.283G>A
c.2991G>A (p.Arg997=)
c.2526G>A (p.Arg842=)
18g.23538644C>ACA401792294NPC1c.2939G>T (p.Arg980Met)
c.2017G>T
n.572G>T
n.282G>T
c.2990G>T (p.Arg997Met)
c.2525G>T (p.Arg842Met)
18g.23538644C>GCA401792293NPC1c.2939G>C (p.Arg980Thr)
c.2017G>C
n.572G>C
n.282G>C
c.2990G>C (p.Arg997Thr)
c.2525G>C (p.Arg842Thr)
18g.23538644C>TCA401792292NPC1c.2939G>A (p.Arg980Lys)
c.2017G>A
n.572G>A
n.282G>A
c.2990G>A (p.Arg997Lys)
c.2525G>A (p.Arg842Lys)
 gnomAD v4
18g.23538645T>ACA401792295NPC1c.2938A>T (p.Arg980Trp)
c.2016A>T
n.571A>T
n.281A>T
c.2989A>T (p.Arg997Trp)
c.2524A>T (p.Arg842Trp)
18g.23538645T>CCA401792296NPC1c.2938A>G (p.Arg980Gly)
c.2016A>G
n.571A>G
n.281A>G
c.2989A>G (p.Arg997Gly)
c.2524A>G (p.Arg842Gly)
18g.23538645T>GCA503322507NPC1c.2938A>C (p.Arg980=)
c.2016A>C
n.571A>C
n.281A>C
c.2989A>C (p.Arg997=)
c.2524A>C (p.Arg842=)
 COSMIC
18g.23538646G>ACA8912906NPC1c.2937C>T (p.Cys979=)
c.2015C>T
n.570C>T
n.280C>T
c.2988C>T (p.Cys996=)
c.2523C>T (p.Cys841=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538646G>CCA401792298NPC1c.2937C>G (p.Cys979Trp)
c.2015C>G
n.570C>G
n.280C>G
c.2988C>G (p.Cys996Trp)
c.2523C>G (p.Cys841Trp)
18g.23538646G=CA2290165386NPC1c.2937C= (p.Cys979=)
c.2015C=
n.570C=
n.280C=
c.2988C= (p.Cys996=)
c.2523C= (p.Cys841=)
18g.23538646G>TCA401792297NPC1c.2937C>A (p.Cys979Ter)
c.2015C>A
n.570C>A
n.280C>A
c.2988C>A (p.Cys996Ter)
c.2523C>A (p.Cys841Ter)
18g.23538647C>ACA401792299NPC1c.2936G>T (p.Cys979Phe)
c.2014G>T
n.569G>T
n.279G>T
c.2987G>T (p.Cys996Phe)
c.2522G>T (p.Cys841Phe)
18g.23538647C>GCA401792301NPC1c.2936G>C (p.Cys979Ser)
c.2014G>C
n.569G>C
n.279G>C
c.2987G>C (p.Cys996Ser)
c.2522G>C (p.Cys841Ser)
18g.23538647C>TCA401792300NPC1c.2936G>A (p.Cys979Tyr)
c.2014G>A
n.569G>A
n.279G>A
c.2987G>A (p.Cys996Tyr)
c.2522G>A (p.Cys841Tyr)
18g.23538648A>CCA401792302NPC1c.2935T>G (p.Cys979Gly)
c.2013T>G
n.568T>G
n.278T>G
c.2986T>G (p.Cys996Gly)
c.2521T>G (p.Cys841Gly)
18g.23538648A>GCA401792303NPC1c.2935T>C (p.Cys979Arg)
c.2013T>C
n.568T>C
n.278T>C
c.2986T>C (p.Cys996Arg)
c.2521T>C (p.Cys841Arg)
18g.23538648A>TCA401792304NPC1c.2935T>A (p.Cys979Ser)
c.2013T>A
n.568T>A
n.278T>A
c.2986T>A (p.Cys996Ser)
c.2521T>A (p.Cys841Ser)
18g.23538649G>ACA503322509NPC1c.2934C>T (p.Arg978=)
c.2012C>T
n.567C>T
n.277C>T
c.2985C>T (p.Arg995=)
c.2520C>T (p.Arg840=)
18g.23538649G>CCA503322510NPC1c.2934C>G (p.Arg978=)
c.2012C>G
n.567C>G
n.277C>G
c.2985C>G (p.Arg995=)
c.2520C>G (p.Arg840=)
18g.23538649G>TCA503322508NPC1c.2934C>A (p.Arg978=)
c.2012C>A
n.567C>A
n.277C>A
c.2985C>A (p.Arg995=)
c.2520C>A (p.Arg840=)
18g.23538650C>ACA401792305NPC1c.2933G>T (p.Arg978Leu)
c.2011G>T
n.566G>T
n.276G>T
c.2984G>T (p.Arg995Leu)
c.2519G>T (p.Arg840Leu)
18g.23538650C=CA2290165387NPC1c.2933G= (p.Arg978=)
c.2011G=
n.566G=
n.276G=
c.2984G= (p.Arg995=)
c.2519G= (p.Arg840=)
18g.23538650C>GCA401792306NPC1c.2933G>C (p.Arg978Pro)
c.2011G>C
n.566G>C
n.276G>C
c.2984G>C (p.Arg995Pro)
c.2519G>C (p.Arg840Pro)
18g.23538650C>TCA8912907NPC1c.2933G>A (p.Arg978His)
c.2011G>A
n.566G>A
n.276G>A
c.2984G>A (p.Arg995His)
c.2519G>A (p.Arg840His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538651G>ACA252501NPC1c.2932C>T (p.Arg978Cys)
c.2010C>T
n.565C>T
n.275C>T
c.2983C>T (p.Arg995Cys)
c.2518C>T (p.Arg840Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538651G>CCA401792307NPC1c.2932C>G (p.Arg978Gly)
c.2010C>G
n.565C>G
n.275C>G
c.2983C>G (p.Arg995Gly)
c.2518C>G (p.Arg840Gly)
18g.23538651G=CA2290165388NPC1c.2932C= (p.Arg978=)
c.2010C=
n.565C=
n.275C=
c.2983C= (p.Arg995=)
c.2518C= (p.Arg840=)
18g.23538651G>TCA401792308NPC1c.2932C>A (p.Arg978Ser)
c.2010C>A
n.565C>A
n.275C>A
c.2983C>A (p.Arg995Ser)
c.2518C>A (p.Arg840Ser)
 ClinVar dbSNP
18g.23538652A>CCA503322511NPC1c.2931T>G (p.Val977=)
c.2009T>G
n.564T>G
n.274T>G
c.2982T>G (p.Val994=)
c.2517T>G (p.Val839=)
18g.23538652A>GCA503322512NPC1c.2931T>C (p.Val977=)
c.2009T>C
n.564T>C
n.274T>C
c.2982T>C (p.Val994=)
c.2517T>C (p.Val839=)
 dbSNP
18g.23538652A>TCA503322513NPC1c.2931T>A (p.Val977=)
c.2009T>A
n.564T>A
n.274T>A
c.2982T>A (p.Val994=)
c.2517T>A (p.Val839=)
18g.23538653A>CCA401792309NPC1c.2930T>G (p.Val977Gly)
c.2008T>G
n.563T>G
n.273T>G
c.2981T>G (p.Val994Gly)
c.2516T>G (p.Val839Gly)
18g.23538653A>GCA401792310NPC1c.2930T>C (p.Val977Ala)
c.2008T>C
n.563T>C
n.273T>C
c.2981T>C (p.Val994Ala)
c.2516T>C (p.Val839Ala)
18g.23538653A>TCA401792311NPC1c.2930T>A (p.Val977Asp)
c.2008T>A
n.563T>A
n.273T>A
c.2981T>A (p.Val994Asp)
c.2516T>A (p.Val839Asp)
18g.23538654C>ACA401792312NPC1c.2929G>T (p.Val977Phe)
c.2007G>T
n.562G>T
n.272G>T
c.2980G>T (p.Val994Phe)
c.2515G>T (p.Val839Phe)
 gnomAD v4
18g.23538654C=CA2290165389NPC1c.2929G= (p.Val977=)
c.2007G=
n.562G=
n.272G=
c.2980G= (p.Val994=)
c.2515G= (p.Val839=)
18g.23538654C>GCA401792313NPC1c.2929G>C (p.Val977Leu)
c.2007G>C
n.562G>C
n.272G>C
c.2980G>C (p.Val994Leu)
c.2515G>C (p.Val839Leu)
18g.23538654C>TCA8912908NPC1c.2929G>A (p.Val977Ile)
c.2007G>A
n.562G>A
n.272G>A
c.2980G>A (p.Val994Ile)
c.2515G>A (p.Val839Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538655G>ACA8912909NPC1c.2928C>T (p.Cys976=)
c.2006C>T
n.561C>T
n.271C>T
c.2979C>T (p.Cys993=)
c.2514C>T (p.Cys838=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23538655G>CCA401792314NPC1c.2928C>G (p.Cys976Trp)
c.2006C>G
n.561C>G
n.271C>G
c.2979C>G (p.Cys993Trp)
c.2514C>G (p.Cys838Trp)
 dbSNP
18g.23538655G=CA2290165390NPC1c.2928C= (p.Cys976=)
c.2006C=
n.561C=
n.271C=
c.2979C= (p.Cys993=)
c.2514C= (p.Cys838=)
18g.23538655G>TCA401792315NPC1c.2928C>A (p.Cys976Ter)
c.2006C>A
n.561C>A
n.271C>A
c.2979C>A (p.Cys993Ter)
c.2514C>A (p.Cys838Ter)
 ClinVar dbSNP
18g.23538660_23538663delCA2695227436NPC1c.2925_2928del (p.Cys976PhefsTer6)
c.2003_2006del
n.558_561del
n.268_271del
c.2976_2979del (p.Cys993PhefsTer6)
c.2511_2514del (p.Cys838PhefsTer6)
18g.23538656C>ACA401792316NPC1c.2927G>T (p.Cys976Phe)
c.2005G>T
n.560G>T
n.270G>T
c.2978G>T (p.Cys993Phe)
c.2513G>T (p.Cys838Phe)
18g.23538656C>GCA401792317NPC1c.2927G>C (p.Cys976Ser)
c.2005G>C
n.560G>C
n.270G>C
c.2978G>C (p.Cys993Ser)
c.2513G>C (p.Cys838Ser)
18g.23538656C>TCA401792318NPC1c.2927G>A (p.Cys976Tyr)
c.2005G>A
n.560G>A
n.270G>A
c.2978G>A (p.Cys993Tyr)
c.2513G>A (p.Cys838Tyr)
18g.23538657A=CA2290165391NPC1c.2926T= (p.Cys976=)
c.2004T=
n.559T=
n.269T=
c.2977T= (p.Cys993=)
c.2512T= (p.Cys838=)
18g.23538657A>CCA8912910NPC1c.2926T>G (p.Cys976Gly)
c.2004T>G
n.559T>G
n.269T>G
c.2977T>G (p.Cys993Gly)
c.2512T>G (p.Cys838Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23538657A>GCA401792319NPC1c.2926T>C (p.Cys976Arg)
c.2004T>C
n.559T>C
n.269T>C
c.2977T>C (p.Cys993Arg)
c.2512T>C (p.Cys838Arg)
 ClinVar gnomAD v4
18g.23538657A>TCA401792320NPC1c.2926T>A (p.Cys976Ser)
c.2004T>A
n.559T>A
n.269T>A
c.2977T>A (p.Cys993Ser)
c.2512T>A (p.Cys838Ser)

Number of alleles fetched