Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23544331T>CCA8913221NPC1c.2130+13A>G (n.2130+13A>G)
n.2044+13A>G
c.1208+13A>G
c.2181+13A>G (n.2181+13A>G)
c.1716+13A>G (n.1716+13A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23544331T=CA2290168024NPC1c.2130+13A= (n.2130+13A=)
n.2044+13A=
c.1208+13A=
c.2181+13A= (n.2181+13A=)
c.1716+13A= (n.1716+13A=)
18g.23544333T>CCA8913222NPC1c.2130+11A>G (n.2130+11A>G)
n.2044+11A>G
c.1208+11A>G
c.2181+11A>G (n.2181+11A>G)
c.1716+11A>G (n.1716+11A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23544333T=CA2290168025NPC1c.2130+11A= (n.2130+11A=)
n.2044+11A=
c.1208+11A=
c.2181+11A= (n.2181+11A=)
c.1716+11A= (n.1716+11A=)
18g.23544333_23544334delinsTGCA2290168026NPC1c.2130+10_2130+11delinsCA (n.2130+10_2130+11delinsCA)
n.2044+10_2044+11delinsCA
c.1208+10_1208+11delinsCA
c.2181+10_2181+11delinsCA (n.2181+10_2181+11delinsCA)
c.1716+10_1716+11delinsCA (n.1716+10_1716+11delinsCA)
18g.23544334G>CCA8913224NPC1c.2130+10C>G (n.2130+10C>G)
n.2044+10C>G
c.1208+10C>G
c.2181+10C>G (n.2181+10C>G)
c.1716+10C>G (n.1716+10C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23544334G=CA2290168028NPC1c.2130+10C= (n.2130+10C=)
n.2044+10C=
c.1208+10C=
c.2181+10C= (n.2181+10C=)
c.1716+10C= (n.1716+10C=)
18g.23544334G>TCA8913223NPC1c.2130+10C>A (n.2130+10C>A)
n.2044+10C>A
c.1208+10C>A
c.2181+10C>A (n.2181+10C>A)
c.1716+10C>A (n.1716+10C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23544335delCA2290168027NPC1c.2130+10del (n.2130+10del)
n.2044+10del
c.1208+10del
c.2181+10del (n.2181+10del)
c.1716+10del (n.1716+10del)
 dbSNP
18g.23544335G=CA2290168029NPC1c.2130+9C= (n.2130+9C=)
n.2044+9C=
c.1208+9C=
c.2181+9C= (n.2181+9C=)
c.1716+9C= (n.1716+9C=)
18g.23544335G>TCA297059420NPC1c.2130+9C>A (n.2130+9C>A)
n.2044+9C>A
c.1208+9C>A
c.2181+9C>A (n.2181+9C>A)
c.1716+9C>A (n.1716+9C>A)
 dbSNP
18g.23544337_23544342delCA2641275949NPC1c.2130+3_2130+8del (n.2130+3_2130+8del)
n.2044+3_2044+8del
c.1208+3_1208+8del
c.2181+3_2181+8del (n.2181+3_2181+8del)
c.1716+3_1716+8del (n.1716+3_1716+8del)
 gnomAD v4
18g.23544337A=CA2290168030NPC1c.2130+7T= (n.2130+7T=)
n.2044+7T=
c.1208+7T=
c.2181+7T= (n.2181+7T=)
c.1716+7T= (n.1716+7T=)
18g.23544337A>CCA915952523NPC1c.2130+7T>G (n.2130+7T>G)
n.2044+7T>G
c.1208+7T>G
c.2181+7T>G (n.2181+7T>G)
c.1716+7T>G (n.1716+7T>G)
 ClinVar dbSNP gnomAD v4
18g.23544337A>GCA628978793NPC1c.2130+7T>C (n.2130+7T>C)
n.2044+7T>C
c.1208+7T>C
c.2181+7T>C (n.2181+7T>C)
c.1716+7T>C (n.1716+7T>C)
 dbSNP gnomAD v2 gnomAD v4
18g.23544338G>TCA2641275956NPC1c.2130+6C>A (n.2130+6C>A)
n.2044+6C>A
c.1208+6C>A
c.2181+6C>A (n.2181+6C>A)
c.1716+6C>A (n.1716+6C>A)
 gnomAD v4
18g.23544339T>CCA503324650NPC1c.2130+5A>G (n.2130+5A>G)
n.2044+5A>G
c.1208+5A>G
c.2181+5A>G (n.2181+5A>G)
c.1716+5A>G (n.1716+5A>G)
 ClinVar gnomAD v4
18g.23544340A>GCA2641275961NPC1c.2130+4T>C (n.2130+4T>C)
n.2044+4T>C
c.1208+4T>C
c.2181+4T>C (n.2181+4T>C)
c.1716+4T>C (n.1716+4T>C)
 dbSNP gnomAD v4
18g.23544341T>CCA297059426NPC1c.2130+3A>G (n.2130+3A>G)
n.2044+3A>G
c.1208+3A>G
c.2181+3A>G (n.2181+3A>G)
c.1716+3A>G (n.1716+3A>G)
 dbSNP
18g.23544341T=CA2290168031NPC1c.2130+3A= (n.2130+3A=)
n.2044+3A=
c.1208+3A=
c.2181+3A= (n.2181+3A=)
c.1716+3A= (n.1716+3A=)
18g.23544342A>CCA401771238NPC1c.2130+2T>G (n.2130+2T>G)
n.2044+2T>G
c.1208+2T>G
c.2181+2T>G (n.2181+2T>G)
c.1716+2T>G (n.1716+2T>G)
18g.23544342A>GCA401771239NPC1c.2130+2T>C (n.2130+2T>C)
n.2044+2T>C
c.1208+2T>C
c.2181+2T>C (n.2181+2T>C)
c.1716+2T>C (n.1716+2T>C)
18g.23544342A>TCA401771240NPC1c.2130+2T>A (n.2130+2T>A)
n.2044+2T>A
c.1208+2T>A
c.2181+2T>A (n.2181+2T>A)
c.1716+2T>A (n.1716+2T>A)
18g.23544343C>ACA401771241NPC1c.2130+1G>T (n.2130+1G>T)
n.2044+1G>T
c.1208+1G>T
c.2181+1G>T (n.2181+1G>T)
c.1716+1G>T (n.1716+1G>T)
 gnomAD v4
18g.23544343C=CA2290168032NPC1c.2130+1G= (n.2130+1G=)
n.2044+1G=
c.1208+1G=
c.2181+1G= (n.2181+1G=)
c.1716+1G= (n.1716+1G=)
18g.23544343C>GCA401771242NPC1c.2130+1G>C (n.2130+1G>C)
n.2044+1G>C
c.1208+1G>C
c.2181+1G>C (n.2181+1G>C)
c.1716+1G>C (n.1716+1G>C)
 ClinVar
18g.23544343C>TCA401771243NPC1c.2130+1G>A (n.2130+1G>A)
n.2044+1G>A
c.1208+1G>A
c.2181+1G>A (n.2181+1G>A)
c.1716+1G>A (n.1716+1G>A)
 ClinVar dbSNP gnomAD v4
18g.23544344dupCA2695227322NPC1c.2130+1dup
n.2044+1dup
c.1208+1dup
c.2181+1dup
c.1716+1dup
18g.23544344C>ACA401771245NPC1c.2130G>T (p.Gln710His)
n.2044G>T
c.1208G>T
c.2181G>T (p.Gln727His)
c.1716G>T (p.Gln572His)
18g.23544344C>GCA401771244NPC1c.2130G>C (p.Gln710His)
n.2044G>C
c.1208G>C
c.2181G>C (p.Gln727His)
c.1716G>C (p.Gln572His)
18g.23544344C>TCA503324651NPC1c.2130G>A (p.Gln710=)
n.2044G>A
c.1208G>A
c.2181G>A (p.Gln727=)
c.1716G>A (p.Gln572=)
18g.23544344_23544345delCA2576470972NPC1c.2129_2130del (p.Asp712Ter)
n.2043_2044del
c.1207_1208del
c.2180_2181del (p.Asp729Ter)
c.1715_1716del (p.Asp574Ter)
18g.23544344_23544345delinsCTCA2290168033NPC1c.2129_2130delinsAG (p.Gln710=)
n.2043_2044delinsAG
c.1207_1208delinsAG
c.2180_2181delinsAG (p.Gln727=)
c.1715_1716delinsAG (p.Gln572=)
18g.23544345delCA2290168034NPC1c.2129del (p.Gln710ArgfsTer19)
n.2043del
c.1207del
c.2180del (p.Gln727ArgfsTer19)
c.1715del (p.Gln572ArgfsTer19)
 ClinVar dbSNP gnomAD v4
18g.23544345T>ACA401771246NPC1c.2129A>T (p.Gln710Leu)
n.2043A>T
c.1207A>T
c.2180A>T (p.Gln727Leu)
c.1715A>T (p.Gln572Leu)
18g.23544345T>CCA401771247NPC1c.2129A>G (p.Gln710Arg)
n.2043A>G
c.1207A>G
c.2180A>G (p.Gln727Arg)
c.1715A>G (p.Gln572Arg)
18g.23544345T>GCA297059435NPC1c.2129A>C (p.Gln710Pro)
n.2043A>C
c.1207A>C
c.2180A>C (p.Gln727Pro)
c.1715A>C (p.Gln572Pro)
 dbSNP
18g.23544345T=CA2290168035NPC1c.2129A= (p.Gln710=)
n.2043A=
c.1207A=
c.2180A= (p.Gln727=)
c.1715A= (p.Gln572=)
18g.23544346_23544348delCA2641275976NPC1c.2127_2129del (p.Tyr709Ter)
n.2041_2043del
c.1205_1207del
c.2178_2180del (p.Tyr726Ter)
c.1713_1715del (p.Tyr571Ter)
 gnomAD v4
18g.23544346G>ACA269825NPC1c.2128C>T (p.Gln710Ter)
n.2042C>T
c.1206C>T
c.2179C>T (p.Gln727Ter)
c.1714C>T (p.Gln572Ter)
 ClinVar dbSNP
18g.23544346G>CCA401771248NPC1c.2128C>G (p.Gln710Glu)
n.2042C>G
c.1206C>G
c.2179C>G (p.Gln727Glu)
c.1714C>G (p.Gln572Glu)
 dbSNP gnomAD v3 gnomAD v4
18g.23544346G=CA2290168036NPC1c.2128C= (p.Gln710=)
n.2042C=
c.1206C=
c.2179C= (p.Gln727=)
c.1714C= (p.Gln572=)
18g.23544346G>TCA401771249NPC1c.2128C>A (p.Gln710Lys)
n.2042C>A
c.1206C>A
c.2179C>A (p.Gln727Lys)
c.1714C>A (p.Gln572Lys)
18g.23544347G>ACA503324652NPC1c.2127C>T (p.Tyr709=)
n.2041C>T
c.1205C>T
c.2178C>T (p.Tyr726=)
c.1713C>T (p.Tyr571=)
 ClinVar
18g.23544347G>CCA401771251NPC1c.2127C>G (p.Tyr709Ter)
n.2041C>G
c.1205C>G
c.2178C>G (p.Tyr726Ter)
c.1713C>G (p.Tyr571Ter)
18g.23544347G>TCA401771250NPC1c.2127C>A (p.Tyr709Ter)
n.2041C>A
c.1205C>A
c.2178C>A (p.Tyr726Ter)
c.1713C>A (p.Tyr571Ter)
18g.23544348T>ACA8913225NPC1c.2126A>T (p.Tyr709Phe)
n.2040A>T
c.1204A>T
c.2177A>T (p.Tyr726Phe)
c.1712A>T (p.Tyr571Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23544348T>CCA401771252NPC1c.2126A>G (p.Tyr709Cys)
n.2040A>G
c.1204A>G
c.2177A>G (p.Tyr726Cys)
c.1712A>G (p.Tyr571Cys)
 dbSNP
18g.23544348T>GCA401771253NPC1c.2126A>C (p.Tyr709Ser)
n.2040A>C
c.1204A>C
c.2177A>C (p.Tyr726Ser)
c.1712A>C (p.Tyr571Ser)
 ClinVar
18g.23544348T=CA2290168037NPC1c.2126A= (p.Tyr709=)
n.2040A=
c.1204A=
c.2177A= (p.Tyr726=)
c.1712A= (p.Tyr571=)
18g.23544349A>CCA401771254NPC1c.2125T>G (p.Tyr709Asp)
n.2039T>G
c.1203T>G
c.2176T>G (p.Tyr726Asp)
c.1711T>G (p.Tyr571Asp)
18g.23544349A>GCA401771255NPC1c.2125T>C (p.Tyr709His)
n.2039T>C
c.1203T>C
c.2176T>C (p.Tyr726His)
c.1711T>C (p.Tyr571His)
18g.23544349A>TCA401771256NPC1c.2125T>A (p.Tyr709Asn)
n.2039T>A
c.1203T>A
c.2176T>A (p.Tyr726Asn)
c.1711T>A (p.Tyr571Asn)
18g.23544350G>ACA503324653NPC1c.2124C>T (p.Ala708=)
n.2038C>T
c.1202C>T
c.2175C>T (p.Ala725=)
c.1710C>T (p.Ala570=)
 ClinVar
18g.23544350G>CCA503324654NPC1c.2124C>G (p.Ala708=)
n.2038C>G
c.1202C>G
c.2175C>G (p.Ala725=)
c.1710C>G (p.Ala570=)
18g.23544350G>TCA503324655NPC1c.2124C>A (p.Ala708=)
n.2038C>A
c.1202C>A
c.2175C>A (p.Ala725=)
c.1710C>A (p.Ala570=)
18g.23544351G>ACA401771257NPC1c.2123C>T (p.Ala708Val)
n.2037C>T
c.1201C>T
c.2174C>T (p.Ala725Val)
c.1709C>T (p.Ala570Val)
18g.23544351G>CCA401771259NPC1c.2123C>G (p.Ala708Gly)
n.2037C>G
c.1201C>G
c.2174C>G (p.Ala725Gly)
c.1709C>G (p.Ala570Gly)
18g.23544351G>TCA401771258NPC1c.2123C>A (p.Ala708Asp)
n.2037C>A
c.1201C>A
c.2174C>A (p.Ala725Asp)
c.1709C>A (p.Ala570Asp)
18g.23544352C>ACA401771260NPC1c.2122G>T (p.Ala708Ser)
n.2036G>T
c.1200G>T
c.2173G>T (p.Ala725Ser)
c.1708G>T (p.Ala570Ser)
18g.23544352C>GCA401771261NPC1c.2122G>C (p.Ala708Pro)
n.2036G>C
c.1200G>C
c.2173G>C (p.Ala725Pro)
c.1708G>C (p.Ala570Pro)
18g.23544352C>TCA401771262NPC1c.2122G>A (p.Ala708Thr)
n.2036G>A
c.1200G>A
c.2173G>A (p.Ala725Thr)
c.1708G>A (p.Ala570Thr)
18g.23544353C>ACA401771263NPC1c.2121G>T (p.Gln707His)
n.2035G>T
c.1199G>T
c.2172G>T (p.Gln724His)
c.1707G>T (p.Gln569His)
18g.23544353C>GCA401771264NPC1c.2121G>C (p.Gln707His)
n.2035G>C
c.1199G>C
c.2172G>C (p.Gln724His)
c.1707G>C (p.Gln569His)
18g.23544353C>TCA503324656NPC1c.2121G>A (p.Gln707=)
n.2035G>A
c.1199G>A
c.2172G>A (p.Gln724=)
c.1707G>A (p.Gln569=)
18g.23544354T>ACA401771265NPC1c.2120A>T (p.Gln707Leu)
n.2034A>T
c.1198A>T
c.2171A>T (p.Gln724Leu)
c.1706A>T (p.Gln569Leu)
18g.23544354T>CCA401771266NPC1c.2120A>G (p.Gln707Arg)
n.2034A>G
c.1198A>G
c.2171A>G (p.Gln724Arg)
c.1706A>G (p.Gln569Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.23544354T>GCA401771267NPC1c.2120A>C (p.Gln707Pro)
n.2034A>C
c.1198A>C
c.2171A>C (p.Gln724Pro)
c.1706A>C (p.Gln569Pro)
18g.23544354T=CA2290168038NPC1c.2120A= (p.Gln707=)
n.2034A=
c.1198A=
c.2171A= (p.Gln724=)
c.1706A= (p.Gln569=)
18g.23544355G>ACA401771268NPC1c.2119C>T (p.Gln707Ter)
n.2033C>T
c.1197C>T
c.2170C>T (p.Gln724Ter)
c.1705C>T (p.Gln569Ter)
18g.23544355G>CCA401771269NPC1c.2119C>G (p.Gln707Glu)
n.2033C>G
c.1197C>G
c.2170C>G (p.Gln724Glu)
c.1705C>G (p.Gln569Glu)
18g.23544355G>TCA401771270NPC1c.2119C>A (p.Gln707Lys)
n.2033C>A
c.1197C>A
c.2170C>A (p.Gln724Lys)
c.1705C>A (p.Gln569Lys)
18g.23544356C>ACA503324657NPC1c.2118G>T (p.Val706=)
n.2032G>T
c.1196G>T
c.2169G>T (p.Val723=)
c.1704G>T (p.Val568=)
18g.23544356C=CA2290168039NPC1c.2118G= (p.Val706=)
n.2032G=
c.1196G=
c.2169G= (p.Val723=)
c.1704G= (p.Val568=)
18g.23544356C>GCA503324658NPC1c.2118G>C (p.Val706=)
n.2032G>C
c.1196G>C
c.2169G>C (p.Val723=)
c.1704G>C (p.Val568=)
18g.23544356C>TCA503324659NPC1c.2118G>A (p.Val706=)
n.2032G>A
c.1196G>A
c.2169G>A (p.Val723=)
c.1704G>A (p.Val568=)
 dbSNP gnomAD v4
18g.23544357A=CA2290168040NPC1c.2117T= (p.Val706=)
n.2031T=
c.1195T=
c.2168T= (p.Val723=)
c.1703T= (p.Val568=)
18g.23544357A>CCA401771272NPC1c.2117T>G (p.Val706Gly)
n.2031T>G
c.1195T>G
c.2168T>G (p.Val723Gly)
c.1703T>G (p.Val568Gly)
18g.23544357A>GCA8913226NPC1c.2117T>C (p.Val706Ala)
n.2031T>C
c.1195T>C
c.2168T>C (p.Val723Ala)
c.1703T>C (p.Val568Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23544357A>TCA401771271NPC1c.2117T>A (p.Val706Glu)
n.2031T>A
c.1195T>A
c.2168T>A (p.Val723Glu)
c.1703T>A (p.Val568Glu)
18g.23544358C>ACA401771273NPC1c.2116G>T (p.Val706Leu)
n.2030G>T
c.1194G>T
c.2167G>T (p.Val723Leu)
c.1702G>T (p.Val568Leu)
 gnomAD v4
18g.23544358C=CA2290168041NPC1c.2116G= (p.Val706=)
n.2030G=
c.1194G=
c.2167G= (p.Val723=)
c.1702G= (p.Val568=)
18g.23544358C>GCA401771274NPC1c.2116G>C (p.Val706Leu)
n.2030G>C
c.1194G>C
c.2167G>C (p.Val723Leu)
c.1702G>C (p.Val568Leu)
18g.23544358C>TCA401771275NPC1c.2116G>A (p.Val706Met)
n.2030G>A
c.1194G>A
c.2167G>A (p.Val723Met)
c.1702G>A (p.Val568Met)
 dbSNP gnomAD v4
18g.23544359C>ACA503324660NPC1c.2115G>T (p.Leu705=)
n.2029G>T
c.1193G>T
c.2166G>T (p.Leu722=)
c.1701G>T (p.Leu567=)
18g.23544359C>GCA503324661NPC1c.2115G>C (p.Leu705=)
n.2029G>C
c.1193G>C
c.2166G>C (p.Leu722=)
c.1701G>C (p.Leu567=)
18g.23544359C>TCA503324662NPC1c.2115G>A (p.Leu705=)
n.2029G>A
c.1193G>A
c.2166G>A (p.Leu722=)
c.1701G>A (p.Leu567=)
 ClinVar
18g.23544360A>CCA401771276NPC1c.2114T>G (p.Leu705Arg)
n.2028T>G
c.1192T>G
c.2165T>G (p.Leu722Arg)
c.1700T>G (p.Leu567Arg)
18g.23544360A>GCA401771277NPC1c.2114T>C (p.Leu705Pro)
n.2028T>C
c.1192T>C
c.2165T>C (p.Leu722Pro)
c.1700T>C (p.Leu567Pro)
18g.23544360A>TCA401771278NPC1c.2114T>A (p.Leu705Gln)
n.2028T>A
c.1192T>A
c.2165T>A (p.Leu722Gln)
c.1700T>A (p.Leu567Gln)
18g.23544361G>ACA503324663NPC1c.2113C>T (p.Leu705=)
n.2027C>T
c.1191C>T
c.2164C>T (p.Leu722=)
c.1699C>T (p.Leu567=)
18g.23544361G>CCA401771279NPC1c.2113C>G (p.Leu705Val)
n.2027C>G
c.1191C>G
c.2164C>G (p.Leu722Val)
c.1699C>G (p.Leu567Val)
18g.23544361G>TCA401771280NPC1c.2113C>A (p.Leu705Met)
n.2027C>A
c.1191C>A
c.2164C>A (p.Leu722Met)
c.1699C>A (p.Leu567Met)
18g.23544362A>CCA401771281NPC1c.2112T>G (p.Ile704Met)
n.2026T>G
c.1190T>G
c.2163T>G (p.Ile721Met)
c.1698T>G (p.Ile566Met)
18g.23544362A>GCA503324664NPC1c.2112T>C (p.Ile704=)
n.2026T>C
c.1190T>C
c.2163T>C (p.Ile721=)
c.1698T>C (p.Ile566=)
18g.23544362A>TCA503324665NPC1c.2112T>A (p.Ile704=)
n.2026T>A
c.1190T>A
c.2163T>A (p.Ile721=)
c.1698T>A (p.Ile566=)
18g.23544363delCA2641276002NPC1c.2112del (p.Leu705TrpfsTer24)
n.2026del
c.1190del
c.2163del (p.Leu722TrpfsTer24)
c.1698del (p.Leu567TrpfsTer24)
 gnomAD v4
18g.23544363A>CCA401771282NPC1c.2111T>G (p.Ile704Ser)
n.2025T>G
c.1189T>G
c.2162T>G (p.Ile721Ser)
c.1697T>G (p.Ile566Ser)
18g.23544363A>GCA401771283NPC1c.2111T>C (p.Ile704Thr)
n.2025T>C
c.1189T>C
c.2162T>C (p.Ile721Thr)
c.1697T>C (p.Ile566Thr)
18g.23544363A>TCA401771284NPC1c.2111T>A (p.Ile704Asn)
n.2025T>A
c.1189T>A
c.2162T>A (p.Ile721Asn)
c.1697T>A (p.Ile566Asn)
18g.23544364T>ACA401771287NPC1c.2110A>T (p.Ile704Phe)
n.2024A>T
c.1188A>T
c.2161A>T (p.Ile721Phe)
c.1696A>T (p.Ile566Phe)
 dbSNP gnomAD v2 gnomAD v4
18g.23544364T>CCA401771286NPC1c.2110A>G (p.Ile704Val)
n.2024A>G
c.1188A>G
c.2161A>G (p.Ile721Val)
c.1696A>G (p.Ile566Val)
18g.23544364T>GCA401771285NPC1c.2110A>C (p.Ile704Leu)
n.2024A>C
c.1188A>C
c.2161A>C (p.Ile721Leu)
c.1696A>C (p.Ile566Leu)
18g.23544364T=CA2290168042NPC1c.2110A= (p.Ile704=)
n.2024A=
c.1188A=
c.2161A= (p.Ile721=)
c.1696A= (p.Ile566=)
18g.23544365G>ACA297059452NPC1c.2109C>T (p.Phe703=)
n.2023C>T
c.1187C>T
c.2160C>T (p.Phe720=)
c.1695C>T (p.Phe565=)
 dbSNP
18g.23544365G>CCA401771289NPC1c.2109C>G (p.Phe703Leu)
n.2023C>G
c.1187C>G
c.2160C>G (p.Phe720Leu)
c.1695C>G (p.Phe565Leu)
18g.23544365G=CA2290168043NPC1c.2109C= (p.Phe703=)
n.2023C=
c.1187C=
c.2160C= (p.Phe720=)
c.1695C= (p.Phe565=)
18g.23544365G>TCA401771288NPC1c.2109C>A (p.Phe703Leu)
n.2023C>A
c.1187C>A
c.2160C>A (p.Phe720Leu)
c.1695C>A (p.Phe565Leu)
18g.23544366A=CA2290168044NPC1c.2108T= (p.Phe703=)
n.2022T=
c.1186T=
c.2159T= (p.Phe720=)
c.1694T= (p.Phe565=)
18g.23544366A>CCA401771290NPC1c.2108T>G (p.Phe703Cys)
n.2022T>G
c.1186T>G
c.2159T>G (p.Phe720Cys)
c.1694T>G (p.Phe565Cys)
18g.23544366A>GCA401771291NPC1c.2108T>C (p.Phe703Ser)
n.2022T>C
c.1186T>C
c.2159T>C (p.Phe720Ser)
c.1694T>C (p.Phe565Ser)
 ClinVar dbSNP
18g.23544366A>TCA401771292NPC1c.2108T>A (p.Phe703Tyr)
n.2022T>A
c.1186T>A
c.2159T>A (p.Phe720Tyr)
c.1694T>A (p.Phe565Tyr)
18g.23544367A=CA2290168045NPC1c.2107T= (p.Phe703=)
n.2021T=
c.1185T=
c.2158T= (p.Phe720=)
c.1693T= (p.Phe565=)
18g.23544367A>CCA401771293NPC1c.2107T>G (p.Phe703Val)
n.2021T>G
c.1185T>G
c.2158T>G (p.Phe720Val)
c.1693T>G (p.Phe565Val)
18g.23544367A>GCA401771294NPC1c.2107T>C (p.Phe703Leu)
n.2021T>C
c.1185T>C
c.2158T>C (p.Phe720Leu)
c.1693T>C (p.Phe565Leu)
18g.23544367A>TCA8913227NPC1c.2107T>A (p.Phe703Ile)
n.2021T>A
c.1185T>A
c.2158T>A (p.Phe720Ile)
c.1693T>A (p.Phe565Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23544368G>ACA503324666NPC1c.2106C>T (p.Ile702=)
n.2020C>T
c.1184C>T
c.2157C>T (p.Ile719=)
c.1692C>T (p.Ile564=)
 gnomAD v4
18g.23544368G>CCA401771295NPC1c.2106C>G (p.Ile702Met)
n.2020C>G
c.1184C>G
c.2157C>G (p.Ile719Met)
c.1692C>G (p.Ile564Met)
18g.23544368G>TCA503324667NPC1c.2106C>A (p.Ile702=)
n.2020C>A
c.1184C>A
c.2157C>A (p.Ile719=)
c.1692C>A (p.Ile564=)
18g.23544369A=CA2290168046NPC1c.2105T= (p.Ile702=)
n.2019T=
c.1183T=
c.2156T= (p.Ile719=)
c.1691T= (p.Ile564=)
18g.23544369A>CCA401771296NPC1c.2105T>G (p.Ile702Ser)
n.2019T>G
c.1183T>G
c.2156T>G (p.Ile719Ser)
c.1691T>G (p.Ile564Ser)
18g.23544369A>GCA401771297NPC1c.2105T>C (p.Ile702Thr)
n.2019T>C
c.1183T>C
c.2156T>C (p.Ile719Thr)
c.1691T>C (p.Ile564Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.23544369A>TCA401771298NPC1c.2105T>A (p.Ile702Asn)
n.2019T>A
c.1183T>A
c.2156T>A (p.Ile719Asn)
c.1691T>A (p.Ile564Asn)
18g.23544370T>ACA401771301NPC1c.2104A>T (p.Ile702Phe)
n.2018A>T
c.1182A>T
c.2155A>T (p.Ile719Phe)
c.1690A>T (p.Ile564Phe)
 gnomAD v4
18g.23544370T>CCA401771300NPC1c.2104A>G (p.Ile702Val)
n.2018A>G
c.1182A>G
c.2155A>G (p.Ile719Val)
c.1690A>G (p.Ile564Val)
 dbSNP gnomAD v2 gnomAD v4
18g.23544370T>GCA401771299NPC1c.2104A>C (p.Ile702Leu)
n.2018A>C
c.1182A>C
c.2155A>C (p.Ile719Leu)
c.1690A>C (p.Ile564Leu)
18g.23544370T=CA2290168047NPC1c.2104A= (p.Ile702=)
n.2018A=
c.1182A=
c.2155A= (p.Ile719=)
c.1690A= (p.Ile564=)
18g.23544371G>ACA201000NPC1c.2103C>T (p.Asn701=)
n.2017C>T
c.1181C>T
c.2154C>T (p.Asn718=)
c.1689C>T (p.Asn563=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23544371G>CCA401771302NPC1c.2103C>G (p.Asn701Lys)
n.2017C>G
c.1181C>G
c.2154C>G (p.Asn718Lys)
c.1689C>G (p.Asn563Lys)
 ClinVar dbSNP
18g.23544371G=CA2290168048NPC1c.2103C= (p.Asn701=)
n.2017C=
c.1181C=
c.2154C= (p.Asn718=)
c.1689C= (p.Asn563=)
18g.23544371G>TCA401771303NPC1c.2103C>A (p.Asn701Lys)
n.2017C>A
c.1181C>A
c.2154C>A (p.Asn718Lys)
c.1689C>A (p.Asn563Lys)
18g.23544371_23544372delinsACCA2573155266NPC1c.2102_2103delinsGT (p.Asn701Ser)
n.2016_2017delinsGT
c.1180_1181delinsGT
c.2153_2154delinsGT (p.Asn718Ser)
c.1688_1689delinsGT (p.Asn563Ser)
 ClinVar
18g.23544372T>ACA401771304NPC1c.2102A>T (p.Asn701Ile)
n.2016A>T
c.1180A>T
c.2153A>T (p.Asn718Ile)
c.1688A>T (p.Asn563Ile)
18g.23544372T>CCA297059488NPC1c.2102A>G (p.Asn701Ser)
n.2016A>G
c.1180A>G
c.2153A>G (p.Asn718Ser)
c.1688A>G (p.Asn563Ser)
 dbSNP gnomAD v3 gnomAD v4
18g.23544372T>GCA401771305NPC1c.2102A>C (p.Asn701Thr)
n.2016A>C
c.1180A>C
c.2153A>C (p.Asn718Thr)
c.1688A>C (p.Asn563Thr)
18g.23544372T=CA2290168049NPC1c.2102A= (p.Asn701=)
n.2016A=
c.1180A=
c.2153A= (p.Asn718=)
c.1688A= (p.Asn563=)
18g.23544373dupCA2695227323NPC1c.2102dup (p.Asn701LysfsTer13)
n.2016dup
c.1180dup
c.2153dup (p.Asn718LysfsTer13)
c.1688dup (p.Asn563LysfsTer13)
18g.23544373T>ACA401771306NPC1c.2101A>T (p.Asn701Tyr)
n.2015A>T
c.1179A>T
c.2152A>T (p.Asn718Tyr)
c.1687A>T (p.Asn563Tyr)
18g.23544373T>CCA401771307NPC1c.2101A>G (p.Asn701Asp)
n.2015A>G
c.1179A>G
c.2152A>G (p.Asn718Asp)
c.1687A>G (p.Asn563Asp)
 gnomAD v4
18g.23544373T>GCA401771308NPC1c.2101A>C (p.Asn701His)
n.2015A>C
c.1179A>C
c.2152A>C (p.Asn718His)
c.1687A>C (p.Asn563His)
18g.23544374G>ACA8913228NPC1c.2100C>T (p.Asp700=)
n.2014C>T
c.1178C>T
c.2151C>T (p.Asp717=)
c.1686C>T (p.Asp562=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23544374G>CCA401771309NPC1c.2100C>G (p.Asp700Glu)
n.2014C>G
c.1178C>G
c.2151C>G (p.Asp717Glu)
c.1686C>G (p.Asp562Glu)
18g.23544374G=CA2290168050NPC1c.2100C= (p.Asp700=)
n.2014C=
c.1178C=
c.2151C= (p.Asp717=)
c.1686C= (p.Asp562=)
18g.23544374G>TCA401771310NPC1c.2100C>A (p.Asp700Glu)
n.2014C>A
c.1178C>A
c.2151C>A (p.Asp717Glu)
c.1686C>A (p.Asp562Glu)
18g.23544375T>ACA401771312NPC1c.2099A>T (p.Asp700Val)
n.2013A>T
c.1177A>T
c.2150A>T (p.Asp717Val)
c.1685A>T (p.Asp562Val)
18g.23544375T>CCA401771313NPC1c.2099A>G (p.Asp700Gly)
n.2013A>G
c.1177A>G
c.2150A>G (p.Asp717Gly)
c.1685A>G (p.Asp562Gly)
18g.23544375T>GCA401771311NPC1c.2099A>C (p.Asp700Ala)
n.2013A>C
c.1177A>C
c.2150A>C (p.Asp717Ala)
c.1685A>C (p.Asp562Ala)
 gnomAD v4
18g.23544376C>ACA401771314NPC1c.2098G>T (p.Asp700Tyr)
n.2012G>T
c.1176G>T
c.2149G>T (p.Asp717Tyr)
c.1684G>T (p.Asp562Tyr)
18g.23544376C=CA2290168051NPC1c.2098G= (p.Asp700=)
n.2012G=
c.1176G=
c.2149G= (p.Asp717=)
c.1684G= (p.Asp562=)
18g.23544376C>GCA401771315NPC1c.2098G>C (p.Asp700His)
n.2012G>C
c.1176G>C
c.2149G>C (p.Asp717His)
c.1684G>C (p.Asp562His)
 dbSNP
18g.23544376C>TCA401771316NPC1c.2098G>A (p.Asp700Asn)
n.2012G>A
c.1176G>A
c.2149G>A (p.Asp717Asn)
c.1684G>A (p.Asp562Asn)
 gnomAD v4
18g.23544377dupCA2641276032NPC1c.2098dup (p.Asp700GlyfsTer14)
n.2012dup
c.1176dup
c.2149dup (p.Asp717GlyfsTer14)
c.1684dup (p.Asp562GlyfsTer14)
 gnomAD v4
18g.23544377C>ACA503324668NPC1c.2097G>T (p.Val699=)
n.2011G>T
c.1175G>T
c.2148G>T (p.Val716=)
c.1683G>T (p.Val561=)
18g.23544377C>GCA503324669NPC1c.2097G>C (p.Val699=)
n.2011G>C
c.1175G>C
c.2148G>C (p.Val716=)
c.1683G>C (p.Val561=)
18g.23544377C>TCA503324670NPC1c.2097G>A (p.Val699=)
n.2011G>A
c.1175G>A
c.2148G>A (p.Val716=)
c.1683G>A (p.Val561=)
18g.23544377_23544378delinsCACA2290168052NPC1c.2096_2097delinsTG (p.Val699=)
n.2010_2011delinsTG
c.1174_1175delinsTG
c.2147_2148delinsTG (p.Val716=)
c.1682_1683delinsTG (p.Val561=)
18g.23544378_23544379dupCA2576470973NPC1c.2096_2097dup (p.Asp700TrpfsTer30)
n.2010_2011dup
c.1174_1175dup
c.2147_2148dup (p.Asp717TrpfsTer30)
c.1682_1683dup (p.Asp562TrpfsTer30)
 ClinVar
18g.23544378delCA915952524NPC1c.2096del (p.Val699GlyfsTer30)
n.2010del
c.1174del
c.2147del (p.Val716GlyfsTer30)
c.1682del (p.Val561GlyfsTer30)
 ClinVar dbSNP
18g.23544378A>CCA401771317NPC1c.2096T>G (p.Val699Gly)
n.2010T>G
c.1174T>G
c.2147T>G (p.Val716Gly)
c.1682T>G (p.Val561Gly)
 gnomAD v4
18g.23544378A>GCA401771318NPC1c.2096T>C (p.Val699Ala)
n.2010T>C
c.1174T>C
c.2147T>C (p.Val716Ala)
c.1682T>C (p.Val561Ala)
 gnomAD v4
18g.23544378A>TCA401771319NPC1c.2096T>A (p.Val699Glu)
n.2010T>A
c.1174T>A
c.2147T>A (p.Val716Glu)
c.1682T>A (p.Val561Glu)
18g.23544379C>ACA401771320NPC1c.2095G>T (p.Val699Leu)
n.2009G>T
c.1173G>T
c.2146G>T (p.Val716Leu)
c.1681G>T (p.Val561Leu)
18g.23544379C>GCA401771321NPC1c.2095G>C (p.Val699Leu)
n.2009G>C
c.1173G>C
c.2146G>C (p.Val716Leu)
c.1681G>C (p.Val561Leu)
18g.23544379C>TCA401771322NPC1c.2095G>A (p.Val699Met)
n.2009G>A
c.1173G>A
c.2146G>A (p.Val716Met)
c.1681G>A (p.Val561Met)
18g.23544380T>ACA503324671NPC1c.2094A>T (p.Gly698=)
n.2008A>T
c.1172A>T
c.2145A>T (p.Gly715=)
c.1680A>T (p.Gly560=)
18g.23544380T>CCA503324672NPC1c.2094A>G (p.Gly698=)
n.2008A>G
c.1172A>G
c.2145A>G (p.Gly715=)
c.1680A>G (p.Gly560=)
 ClinVar dbSNP gnomAD v4
18g.23544380T>GCA503324673NPC1c.2094A>C (p.Gly698=)
n.2008A>C
c.1172A>C
c.2145A>C (p.Gly715=)
c.1680A>C (p.Gly560=)
18g.23544380T=CA2290168053NPC1c.2094A= (p.Gly698=)
n.2008A=
c.1172A=
c.2145A= (p.Gly715=)
c.1680A= (p.Gly560=)
18g.23544381C>ACA401771323NPC1c.2093G>T (p.Gly698Val)
n.2007G>T
c.1171G>T
c.2144G>T (p.Gly715Val)
c.1679G>T (p.Gly560Val)
18g.23544381C>GCA401771324NPC1c.2093G>C (p.Gly698Ala)
n.2007G>C
c.1171G>C
c.2144G>C (p.Gly715Ala)
c.1679G>C (p.Gly560Ala)
18g.23544381C>TCA401771325NPC1c.2093G>A (p.Gly698Glu)
n.2007G>A
c.1171G>A
c.2144G>A (p.Gly715Glu)
c.1679G>A (p.Gly560Glu)
18g.23544382C>ACA401771327NPC1c.2092G>T (p.Gly698Ter)
n.2006G>T
c.1170G>T
c.2143G>T (p.Gly715Ter)
c.1678G>T (p.Gly560Ter)
 ClinVar dbSNP
18g.23544382C=CA2290168054NPC1c.2092G= (p.Gly698=)
n.2006G=
c.1170G=
c.2143G= (p.Gly715=)
c.1678G= (p.Gly560=)
18g.23544382C>GCA401771328NPC1c.2092G>C (p.Gly698Arg)
n.2006G>C
c.1170G>C
c.2143G>C (p.Gly715Arg)
c.1678G>C (p.Gly560Arg)
18g.23544382C>TCA401771326NPC1c.2092G>A (p.Gly698Arg)
n.2006G>A
c.1170G>A
c.2143G>A (p.Gly715Arg)
c.1678G>A (p.Gly560Arg)
18g.23544383A>CCA503324675NPC1c.2091T>G (p.Val697=)
n.2005T>G
c.1169T>G
c.2142T>G (p.Val714=)
c.1677T>G (p.Val559=)
18g.23544383A>GCA503324676NPC1c.2091T>C (p.Val697=)
n.2005T>C
c.1169T>C
c.2142T>C (p.Val714=)
c.1677T>C (p.Val559=)
18g.23544383A>TCA503324674NPC1c.2091T>A (p.Val697=)
n.2005T>A
c.1169T>A
c.2142T>A (p.Val714=)
c.1677T>A (p.Val559=)
18g.23544384A=CA2290168055NPC1c.2090T= (p.Val697=)
n.2004T=
c.1168T=
c.2141T= (p.Val714=)
c.1676T= (p.Val559=)
18g.23544384A>CCA401771329NPC1c.2090T>G (p.Val697Gly)
n.2004T>G
c.1168T>G
c.2141T>G (p.Val714Gly)
c.1676T>G (p.Val559Gly)
18g.23544384A>GCA10647302NPC1c.2090T>C (p.Val697Ala)
n.2004T>C
c.1168T>C
c.2141T>C (p.Val714Ala)
c.1676T>C (p.Val559Ala)
 ClinVar dbSNP gnomAD v4
18g.23544384A>TCA401771330NPC1c.2090T>A (p.Val697Asp)
n.2004T>A
c.1168T>A
c.2141T>A (p.Val714Asp)
c.1676T>A (p.Val559Asp)
18g.23544385C>ACA401771331NPC1c.2089G>T (p.Val697Phe)
n.2003G>T
c.1167G>T
c.2140G>T (p.Val714Phe)
c.1675G>T (p.Val559Phe)
18g.23544385C>GCA401771332NPC1c.2089G>C (p.Val697Leu)
n.2003G>C
c.1167G>C
c.2140G>C (p.Val714Leu)
c.1675G>C (p.Val559Leu)
18g.23544385C>TCA401771333NPC1c.2089G>A (p.Val697Ile)
n.2003G>A
c.1167G>A
c.2140G>A (p.Val714Ile)
c.1675G>A (p.Val559Ile)
 gnomAD v4
18g.23544386A=CA2290168056NPC1c.2088T= (p.Ala696=)
n.2002T=
c.1166T=
c.2139T= (p.Ala713=)
c.1674T= (p.Ala558=)
18g.23544386A>CCA503324677NPC1c.2088T>G (p.Ala696=)
n.2002T>G
c.1166T>G
c.2139T>G (p.Ala713=)
c.1674T>G (p.Ala558=)
18g.23544386A>GCA8913229NPC1c.2088T>C (p.Ala696=)
n.2002T>C
c.1166T>C
c.2139T>C (p.Ala713=)
c.1674T>C (p.Ala558=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23544386A>TCA503324678NPC1c.2088T>A (p.Ala696=)
n.2002T>A
c.1166T>A
c.2139T>A (p.Ala713=)
c.1674T>A (p.Ala558=)
 dbSNP
18g.23544387G>ACA401771334NPC1c.2087C>T (p.Ala696Val)
n.2001C>T
c.1165C>T
c.2138C>T (p.Ala713Val)
c.1673C>T (p.Ala558Val)
18g.23544387G>CCA401771335NPC1c.2087C>G (p.Ala696Gly)
n.2001C>G
c.1165C>G
c.2138C>G (p.Ala713Gly)
c.1673C>G (p.Ala558Gly)
18g.23544387G>TCA401771336NPC1c.2087C>A (p.Ala696Asp)
n.2001C>A
c.1165C>A
c.2138C>A (p.Ala713Asp)
c.1673C>A (p.Ala558Asp)
18g.23544388C>ACA401771337NPC1c.2086G>T (p.Ala696Ser)
n.2000G>T
c.1164G>T
c.2137G>T (p.Ala713Ser)
c.1672G>T (p.Ala558Ser)
18g.23544388C>GCA401771338NPC1c.2086G>C (p.Ala696Pro)
n.2000G>C
c.1164G>C
c.2137G>C (p.Ala713Pro)
c.1672G>C (p.Ala558Pro)
18g.23544388C>TCA401771339NPC1c.2086G>A (p.Ala696Thr)
n.2000G>A
c.1164G>A
c.2137G>A (p.Ala713Thr)
c.1672G>A (p.Ala558Thr)
18g.23544389delCA2580095607NPC1c.2086del (p.Ala696LeufsTer?)
n.2000del
c.1164del
c.2137del (p.Ala713LeufsTer?)
c.1672del (p.Ala558LeufsTer?)
 ClinVar
18g.23544389C>ACA503324681NPC1c.2085G>T (p.Leu695=)
n.1999G>T
c.1163G>T
c.2136G>T (p.Leu712=)
c.1671G>T (p.Leu557=)
18g.23544389C=CA2290168057NPC1c.2085G= (p.Leu695=)
n.1999G=
c.1163G=
c.2136G= (p.Leu712=)
c.1671G= (p.Leu557=)
18g.23544389C>GCA503324680NPC1c.2085G>C (p.Leu695=)
n.1999G>C
c.1163G>C
c.2136G>C (p.Leu712=)
c.1671G>C (p.Leu557=)
18g.23544389C>TCA503324679NPC1c.2085G>A (p.Leu695=)
n.1999G>A
c.1163G>A
c.2136G>A (p.Leu712=)
c.1671G>A (p.Leu557=)
 ClinVar dbSNP
18g.23544390A>CCA401771342NPC1c.2084T>G (p.Leu695Arg)
n.1998T>G
c.1162T>G
c.2135T>G (p.Leu712Arg)
c.1670T>G (p.Leu557Arg)
18g.23544390A>GCA401771341NPC1c.2084T>C (p.Leu695Pro)
n.1998T>C
c.1162T>C
c.2135T>C (p.Leu712Pro)
c.1670T>C (p.Leu557Pro)
 gnomAD v4
18g.23544390A>TCA401771340NPC1c.2084T>A (p.Leu695Gln)
n.1998T>A
c.1162T>A
c.2135T>A (p.Leu712Gln)
c.1670T>A (p.Leu557Gln)
18g.23544391G>ACA503324682NPC1c.2083C>T (p.Leu695=)
n.1997C>T
c.1161C>T
c.2134C>T (p.Leu712=)
c.1669C>T (p.Leu557=)
 ClinVar
18g.23544391G>CCA8913230NPC1c.2083C>G (p.Leu695Val)
n.1997C>G
c.1161C>G
c.2134C>G (p.Leu712Val)
c.1669C>G (p.Leu557Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23544391G=CA2290168058NPC1c.2083C= (p.Leu695=)
n.1997C=
c.1161C=
c.2134C= (p.Leu712=)
c.1669C= (p.Leu557=)
18g.23544391G>TCA401771343NPC1c.2083C>A (p.Leu695Met)
n.1997C>A
c.1161C>A
c.2134C>A (p.Leu712Met)
c.1669C>A (p.Leu557Met)
18g.23544392C>ACA503324683NPC1c.2082G>T (p.Val694=)
n.1996G>T
c.1160G>T
c.2133G>T (p.Val711=)
c.1668G>T (p.Val556=)
18g.23544392C>GCA503324684NPC1c.2082G>C (p.Val694=)
n.1996G>C
c.1160G>C
c.2133G>C (p.Val711=)
c.1668G>C (p.Val556=)
18g.23544392C>TCA503324685NPC1c.2082G>A (p.Val694=)
n.1996G>A
c.1160G>A
c.2133G>A (p.Val711=)
c.1668G>A (p.Val556=)
18g.23544393A>CCA401771344NPC1c.2081T>G (p.Val694Gly)
n.1995T>G
c.1159T>G
c.2132T>G (p.Val711Gly)
c.1667T>G (p.Val556Gly)
18g.23544393A>GCA401771345NPC1c.2081T>C (p.Val694Ala)
n.1995T>C
c.1159T>C
c.2132T>C (p.Val711Ala)
c.1667T>C (p.Val556Ala)
18g.23544393A>TCA401771346NPC1c.2081T>A (p.Val694Glu)
n.1995T>A
c.1159T>A
c.2132T>A (p.Val711Glu)
c.1667T>A (p.Val556Glu)
18g.23544394C>ACA401771347NPC1c.2080G>T (p.Val694Leu)
n.1994G>T
c.1158G>T
c.2131G>T (p.Val711Leu)
c.1666G>T (p.Val556Leu)
 dbSNP gnomAD v3 gnomAD v4
18g.23544394C=CA2290168059NPC1c.2080G= (p.Val694=)
n.1994G=
c.1158G=
c.2131G= (p.Val711=)
c.1666G= (p.Val556=)
18g.23544394C>GCA401771348NPC1c.2080G>C (p.Val694Leu)
n.1994G>C
c.1158G>C
c.2131G>C (p.Val711Leu)
c.1666G>C (p.Val556Leu)
18g.23544394C>TCA401771349NPC1c.2080G>A (p.Val694Met)
n.1994G>A
c.1158G>A
c.2131G>A (p.Val711Met)
c.1666G>A (p.Val556Met)
 gnomAD v4
18g.23544395C>ACA503324686NPC1c.2079G>T (p.Leu693=)
n.1993G>T
c.1157G>T
c.2130G>T (p.Leu710=)
c.1665G>T (p.Leu555=)
18g.23544395C=CA2290168060NPC1c.2079G= (p.Leu693=)
n.1993G=
c.1157G=
c.2130G= (p.Leu710=)
c.1665G= (p.Leu555=)
18g.23544395C>GCA503324687NPC1c.2079G>C (p.Leu693=)
n.1993G>C
c.1157G>C
c.2130G>C (p.Leu710=)
c.1665G>C (p.Leu555=)
18g.23544395C>TCA503324688NPC1c.2079G>A (p.Leu693=)
n.1993G>A
c.1157G>A
c.2130G>A (p.Leu710=)
c.1665G>A (p.Leu555=)
 ClinVar dbSNP
18g.23544396A>CCA401771350NPC1c.2078T>G (p.Leu693Arg)
n.1992T>G
c.1156T>G
c.2129T>G (p.Leu710Arg)
c.1664T>G (p.Leu555Arg)
18g.23544396A>GCA401771351NPC1c.2078T>C (p.Leu693Pro)
n.1992T>C
c.1156T>C
c.2129T>C (p.Leu710Pro)
c.1664T>C (p.Leu555Pro)
18g.23544396A>TCA401771352NPC1c.2078T>A (p.Leu693Gln)
n.1992T>A
c.1156T>A
c.2129T>A (p.Leu710Gln)
c.1664T>A (p.Leu555Gln)
18g.23544397G>ACA503324689NPC1c.2077C>T (p.Leu693=)
n.1991C>T
c.1155C>T
c.2128C>T (p.Leu710=)
c.1663C>T (p.Leu555=)
18g.23544397G>CCA401771353NPC1c.2077C>G (p.Leu693Val)
n.1991C>G
c.1155C>G
c.2128C>G (p.Leu710Val)
c.1663C>G (p.Leu555Val)
 gnomAD v4
18g.23544397G>TCA401771354NPC1c.2077C>A (p.Leu693Met)
n.1991C>A
c.1155C>A
c.2128C>A (p.Leu710Met)
c.1663C>A (p.Leu555Met)
18g.23544398delCA2580095608NPC1c.2077del (p.Leu693TrpfsTer?)
n.1991del
c.1155del
c.2128del (p.Leu710TrpfsTer?)
c.1663del (p.Leu555TrpfsTer?)
 ClinVar
18g.23544398G>ACA503324690NPC1c.2076C>T (p.Phe692=)
n.1990C>T
c.1154C>T
c.2127C>T (p.Phe709=)
c.1662C>T (p.Phe554=)
18g.23544398G>CCA401771355NPC1c.2076C>G (p.Phe692Leu)
n.1990C>G
c.1154C>G
c.2127C>G (p.Phe709Leu)
c.1662C>G (p.Phe554Leu)
18g.23544398G>TCA401771356NPC1c.2076C>A (p.Phe692Leu)
n.1990C>A
c.1154C>A
c.2127C>A (p.Phe709Leu)
c.1662C>A (p.Phe554Leu)
 gnomAD v4
18g.23544399A>CCA401771359NPC1c.2075T>G (p.Phe692Cys)
n.1989T>G
c.1153T>G
c.2126T>G (p.Phe709Cys)
c.1661T>G (p.Phe554Cys)
18g.23544399A>GCA401771358NPC1c.2075T>C (p.Phe692Ser)
n.1989T>C
c.1153T>C
c.2126T>C (p.Phe709Ser)
c.1661T>C (p.Phe554Ser)
 gnomAD v4
18g.23544399A>TCA401771357NPC1c.2075T>A (p.Phe692Tyr)
n.1989T>A
c.1153T>A
c.2126T>A (p.Phe709Tyr)
c.1661T>A (p.Phe554Tyr)
18g.23544400delCA2695227324NPC1c.2075del (p.Phe692SerfsTer?)
n.1989del
c.1153del
c.2126del (p.Phe709SerfsTer?)
c.1661del (p.Phe554SerfsTer?)
18g.23544400A>CCA401771360NPC1c.2074T>G (p.Phe692Val)
n.1988T>G
c.1152T>G
c.2125T>G (p.Phe709Val)
c.1660T>G (p.Phe554Val)
18g.23544400A>GCA401771361NPC1c.2074T>C (p.Phe692Leu)
n.1988T>C
c.1152T>C
c.2125T>C (p.Phe709Leu)
c.1660T>C (p.Phe554Leu)
18g.23544400A>TCA401771362NPC1c.2074T>A (p.Phe692Ile)
n.1988T>A
c.1152T>A
c.2125T>A (p.Phe709Ile)
c.1660T>A (p.Phe554Ile)
18g.23544401C>ACA503324691NPC1c.2073G>T (p.Pro691=)
n.1987G>T
c.1151G>T
c.2124G>T (p.Pro708=)
c.1659G>T (p.Pro553=)
18g.23544401C=CA2290168061NPC1c.2073G= (p.Pro691=)
n.1987G=
c.1151G=
c.2124G= (p.Pro708=)
c.1659G= (p.Pro553=)
18g.23544401C>GCA503324692NPC1c.2073G>C (p.Pro691=)
n.1987G>C
c.1151G>C
c.2124G>C (p.Pro708=)
c.1659G>C (p.Pro553=)
18g.23544401C>TCA200998NPC1c.2073G>A (p.Pro691=)
n.1987G>A
c.1151G>A
c.2124G>A (p.Pro708=)
c.1659G>A (p.Pro553=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.23544402G>ACA401771363NPC1c.2072C>T (p.Pro691Leu)
n.1986C>T
c.1150C>T
c.2123C>T (p.Pro708Leu)
c.1658C>T (p.Pro553Leu)
 ClinVar dbSNP gnomAD v4
18g.23544402G>CCA401771364NPC1c.2072C>G (p.Pro691Arg)
n.1986C>G
c.1150C>G
c.2123C>G (p.Pro708Arg)
c.1658C>G (p.Pro553Arg)
18g.23544402G=CA2290168062NPC1c.2072C= (p.Pro691=)
n.1986C=
c.1150C=
c.2123C= (p.Pro708=)
c.1658C= (p.Pro553=)
18g.23544402G>TCA401771365NPC1c.2072C>A (p.Pro691Gln)
n.1986C>A
c.1150C>A
c.2123C>A (p.Pro708Gln)
c.1658C>A (p.Pro553Gln)
 ClinVar dbSNP gnomAD v4
18g.23544404dupCA2582342333NPC1c.2072dup (p.Phe692ValfsTer22)
n.1986dup
c.1150dup
c.2123dup (p.Phe709ValfsTer22)
c.1658dup (p.Phe554ValfsTer22)
 ClinVar
18g.23544402_23544405dupCA2576470974NPC1c.2069_2072dup (p.Phe692ProfsTer23)
n.1983_1986dup
c.1147_1150dup
c.2120_2123dup (p.Phe709ProfsTer23)
c.1655_1658dup (p.Phe554ProfsTer23)
 gnomAD v4
18g.23544403G>ACA401771366NPC1c.2071C>T (p.Pro691Ser)
n.1985C>T
c.1149C>T
c.2122C>T (p.Pro708Ser)
c.1657C>T (p.Pro553Ser)
18g.23544403G>CCA401771367NPC1c.2071C>G (p.Pro691Ala)
n.1985C>G
c.1149C>G
c.2122C>G (p.Pro708Ala)
c.1657C>G (p.Pro553Ala)
 ClinVar dbSNP gnomAD v4
18g.23544403G=CA2290168063NPC1c.2071C= (p.Pro691=)
n.1985C=
c.1149C=
c.2122C= (p.Pro708=)
c.1657C= (p.Pro553=)
18g.23544403G>TCA401771368NPC1c.2071C>A (p.Pro691Thr)
n.1985C>A
c.1149C>A
c.2122C>A (p.Pro708Thr)
c.1657C>A (p.Pro553Thr)
18g.23544404G>ACA503324694NPC1c.2070C>T (p.Ile690=)
n.1984C>T
c.1148C>T
c.2121C>T (p.Ile707=)
c.1656C>T (p.Ile552=)
 gnomAD v4
18g.23544404G>CCA8913231NPC1c.2070C>G (p.Ile690Met)
n.1984C>G
c.1148C>G
c.2121C>G (p.Ile707Met)
c.1656C>G (p.Ile552Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23544404G=CA2290168064NPC1c.2070C= (p.Ile690=)
n.1984C=
c.1148C=
c.2121C= (p.Ile707=)
c.1656C= (p.Ile552=)
18g.23544404G>TCA503324693NPC1c.2070C>A (p.Ile690=)
n.1984C>A
c.1148C>A
c.2121C>A (p.Ile707=)
c.1656C>A (p.Ile552=)
18g.23544405A>CCA401771369NPC1c.2069T>G (p.Ile690Ser)
n.1983T>G
c.1147T>G
c.2120T>G (p.Ile707Ser)
c.1655T>G (p.Ile552Ser)
18g.23544405A>GCA401771370NPC1c.2069T>C (p.Ile690Thr)
n.1983T>C
c.1147T>C
c.2120T>C (p.Ile707Thr)
c.1655T>C (p.Ile552Thr)
18g.23544405A>TCA401771371NPC1c.2069T>A (p.Ile690Asn)
n.1983T>A
c.1147T>A
c.2120T>A (p.Ile707Asn)
c.1655T>A (p.Ile552Asn)
18g.23544406T>ACA401771373NPC1c.2068A>T (p.Ile690Phe)
n.1982A>T
c.1146A>T
c.2119A>T (p.Ile707Phe)
c.1654A>T (p.Ile552Phe)
 gnomAD v4
18g.23544406T>CCA401771374NPC1c.2068A>G (p.Ile690Val)
n.1982A>G
c.1146A>G
c.2119A>G (p.Ile707Val)
c.1654A>G (p.Ile552Val)
 dbSNP gnomAD v3 gnomAD v4
18g.23544406T>GCA401771372NPC1c.2068A>C (p.Ile690Leu)
n.1982A>C
c.1146A>C
c.2119A>C (p.Ile707Leu)
c.1654A>C (p.Ile552Leu)
 gnomAD v4
18g.23544406T=CA2290168065NPC1c.2068A= (p.Ile690=)
n.1982A=
c.1146A=
c.2119A= (p.Ile707=)
c.1654A= (p.Ile552=)
18g.23544407G>ACA503324697NPC1c.2067C>T (p.Val689=)
n.1981C>T
c.1145C>T
c.2118C>T (p.Val706=)
c.1653C>T (p.Val551=)
 COSMIC
18g.23544407G>CCA503324696NPC1c.2067C>G (p.Val689=)
n.1981C>G
c.1145C>G
c.2118C>G (p.Val706=)
c.1653C>G (p.Val551=)
 gnomAD v4
18g.23544407G>TCA503324695NPC1c.2067C>A (p.Val689=)
n.1981C>A
c.1145C>A
c.2118C>A (p.Val706=)
c.1653C>A (p.Val551=)
 gnomAD v4
18g.23544408A>CCA401771375NPC1c.2066T>G (p.Val689Gly)
n.1980T>G
c.1144T>G
c.2117T>G (p.Val706Gly)
c.1652T>G (p.Val551Gly)
18g.23544408A>GCA401771376NPC1c.2066T>C (p.Val689Ala)
n.1980T>C
c.1144T>C
c.2117T>C (p.Val706Ala)
c.1652T>C (p.Val551Ala)
18g.23544408A>TCA401771377NPC1c.2066T>A (p.Val689Asp)
n.1980T>A
c.1144T>A
c.2117T>A (p.Val706Asp)
c.1652T>A (p.Val551Asp)
18g.23544409C>ACA401771378NPC1c.2065G>T (p.Val689Phe)
n.1979G>T
c.1143G>T
c.2116G>T (p.Val706Phe)
c.1651G>T (p.Val551Phe)
18g.23544409C>GCA401771379NPC1c.2065G>C (p.Val689Leu)
n.1979G>C
c.1143G>C
c.2116G>C (p.Val706Leu)
c.1651G>C (p.Val551Leu)
18g.23544409C>TCA401771380NPC1c.2065G>A (p.Val689Ile)
n.1979G>A
c.1143G>A
c.2116G>A (p.Val706Ile)
c.1651G>A (p.Val551Ile)
18g.23544410T>ACA401771381NPC1c.2064A>T (p.Glu688Asp)
n.1978A>T
c.1142A>T
c.2115A>T (p.Glu705Asp)
c.1650A>T (p.Glu550Asp)
18g.23544410T>CCA503324698NPC1c.2064A>G (p.Glu688=)
n.1978A>G
c.1142A>G
c.2115A>G (p.Glu705=)
c.1650A>G (p.Glu550=)
 ClinVar
18g.23544410T>GCA401771382NPC1c.2064A>C (p.Glu688Asp)
n.1978A>C
c.1142A>C
c.2115A>C (p.Glu705Asp)
c.1650A>C (p.Glu550Asp)
 gnomAD v4 COSMIC
18g.23544411T>ACA401771383NPC1c.2063A>T (p.Glu688Val)
n.1977A>T
c.1141A>T
c.2114A>T (p.Glu705Val)
c.1649A>T (p.Glu550Val)
18g.23544411T>CCA401771384NPC1c.2063A>G (p.Glu688Gly)
n.1977A>G
c.1141A>G
c.2114A>G (p.Glu705Gly)
c.1649A>G (p.Glu550Gly)
18g.23544411T>GCA401771385NPC1c.2063A>C (p.Glu688Ala)
n.1977A>C
c.1141A>C
c.2114A>C (p.Glu705Ala)
c.1649A>C (p.Glu550Ala)
 dbSNP gnomAD v2 gnomAD v4
18g.23544411T=CA2290168066NPC1c.2063A= (p.Glu688=)
n.1977A=
c.1141A=
c.2114A= (p.Glu705=)
c.1649A= (p.Glu550=)
18g.23544412C>ACA401771388NPC1c.2062G>T (p.Glu688Ter)
n.1976G>T
c.1140G>T
c.2113G>T (p.Glu705Ter)
c.1648G>T (p.Glu550Ter)
18g.23544412C>GCA401771387NPC1c.2062G>C (p.Glu688Gln)
n.1976G>C
c.1140G>C
c.2113G>C (p.Glu705Gln)
c.1648G>C (p.Glu550Gln)
18g.23544412C>TCA401771386NPC1c.2062G>A (p.Glu688Lys)
n.1976G>A
c.1140G>A
c.2113G>A (p.Glu705Lys)
c.1648G>A (p.Glu550Lys)
18g.23544413A=CA2290168067NPC1c.2061T= (p.Ile687=)
n.1975T=
c.1139T=
c.2112T= (p.Ile704=)
c.1647T= (p.Ile549=)
18g.23544413A>CCA401771389NPC1c.2061T>G (p.Ile687Met)
n.1975T>G
c.1139T>G
c.2112T>G (p.Ile704Met)
c.1647T>G (p.Ile549Met)
 dbSNP gnomAD v2 gnomAD v4
18g.23544413A>GCA503324699NPC1c.2061T>C (p.Ile687=)
n.1975T>C
c.1139T>C
c.2112T>C (p.Ile704=)
c.1647T>C (p.Ile549=)
 ClinVar
18g.23544413A>TCA503324700NPC1c.2061T>A (p.Ile687=)
n.1975T>A
c.1139T>A
c.2112T>A (p.Ile704=)
c.1647T>A (p.Ile549=)
18g.23544414A>CCA401771390NPC1c.2060T>G (p.Ile687Ser)
n.1974T>G
c.1138T>G
c.2111T>G (p.Ile704Ser)
c.1646T>G (p.Ile549Ser)
18g.23544414A>GCA401771391NPC1c.2060T>C (p.Ile687Thr)
n.1974T>C
c.1138T>C
c.2111T>C (p.Ile704Thr)
c.1646T>C (p.Ile549Thr)
18g.23544414A>TCA401771392NPC1c.2060T>A (p.Ile687Asn)
n.1974T>A
c.1138T>A
c.2111T>A (p.Ile704Asn)
c.1646T>A (p.Ile549Asn)
18g.23544415T>ACA401771393NPC1c.2059A>T (p.Ile687Phe)
n.1973A>T
c.1137A>T
c.2110A>T (p.Ile704Phe)
c.1645A>T (p.Ile549Phe)
18g.23544415T>CCA401771394NPC1c.2059A>G (p.Ile687Val)
n.1973A>G
c.1137A>G
c.2110A>G (p.Ile704Val)
c.1645A>G (p.Ile549Val)
 ClinVar dbSNP
18g.23544415T>GCA401771395NPC1c.2059A>C (p.Ile687Leu)
n.1973A>C
c.1137A>C
c.2110A>C (p.Ile704Leu)
c.1645A>C (p.Ile549Leu)
18g.23544415T=CA2290168068NPC1c.2059A= (p.Ile687=)
n.1973A=
c.1137A=
c.2110A= (p.Ile704=)
c.1645A= (p.Ile549=)
18g.23544416C>ACA503324701NPC1c.2058G>T (p.Val686=)
n.1972G>T
c.1136G>T
c.2109G>T (p.Val703=)
c.1644G>T (p.Val548=)
18g.23544416C>GCA503324702NPC1c.2058G>C (p.Val686=)
n.1972G>C
c.1136G>C
c.2109G>C (p.Val703=)
c.1644G>C (p.Val548=)
18g.23544416C>TCA503324703NPC1c.2058G>A (p.Val686=)
n.1972G>A
c.1136G>A
c.2109G>A (p.Val703=)
c.1644G>A (p.Val548=)
18g.23544417A=CA2290168069NPC1c.2057T= (p.Val686=)
n.1971T=
c.1135T=
c.2108T= (p.Val703=)
c.1643T= (p.Val548=)
18g.23544417A>CCA401771396NPC1c.2057T>G (p.Val686Gly)
n.1971T>G
c.1135T>G
c.2108T>G (p.Val703Gly)
c.1643T>G (p.Val548Gly)
18g.23544417A>GCA401771397NPC1c.2057T>C (p.Val686Ala)
n.1971T>C
c.1135T>C
c.2108T>C (p.Val703Ala)
c.1643T>C (p.Val548Ala)
 dbSNP gnomAD v4
18g.23544417A>TCA401771398NPC1c.2057T>A (p.Val686Glu)
n.1971T>A
c.1135T>A
c.2108T>A (p.Val703Glu)
c.1643T>A (p.Val548Glu)
18g.23544418C>ACA401771399NPC1c.2056G>T (p.Val686Leu)
n.1970G>T
c.1134G>T
c.2107G>T (p.Val703Leu)
c.1642G>T (p.Val548Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23544418C=CA2290168070NPC1c.2056G= (p.Val686=)
n.1970G=
c.1134G=
c.2107G= (p.Val703=)
c.1642G= (p.Val548=)
18g.23544418C>GCA401771400NPC1c.2056G>C (p.Val686Leu)
n.1970G>C
c.1134G>C
c.2107G>C (p.Val703Leu)
c.1642G>C (p.Val548Leu)
18g.23544418C>TCA401771401NPC1c.2056G>A (p.Val686Met)
n.1970G>A
c.1134G>A
c.2107G>A (p.Val703Met)
c.1642G>A (p.Val548Met)
 dbSNP
18g.23544419A=CA2290168071NPC1c.2055T= (p.Ile685=)
n.1969T=
c.1133T=
c.2106T= (p.Ile702=)
c.1641T= (p.Ile547=)
18g.23544419A>CCA401771402NPC1c.2055T>G (p.Ile685Met)
n.1969T>G
c.1133T>G
c.2106T>G (p.Ile702Met)
c.1641T>G (p.Ile547Met)
18g.23544419A>GCA8913232NPC1c.2055T>C (p.Ile685=)
n.1969T>C
c.1133T>C
c.2106T>C (p.Ile702=)
c.1641T>C (p.Ile547=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23544419A>TCA503324704NPC1c.2055T>A (p.Ile685=)
n.1969T>A
c.1133T>A
c.2106T>A (p.Ile702=)
c.1641T>A (p.Ile547=)
18g.23544420A=CA2290168072NPC1c.2054T= (p.Ile685=)
n.1968T=
c.1132T=
c.2105T= (p.Ile702=)
c.1640T= (p.Ile547=)
18g.23544420A>CCA401771403NPC1c.2054T>G (p.Ile685Ser)
n.1968T>G
c.1132T>G
c.2105T>G (p.Ile702Ser)
c.1640T>G (p.Ile547Ser)
18g.23544420A>GCA269823NPC1c.2054T>C (p.Ile685Thr)
n.1968T>C
c.1132T>C
c.2105T>C (p.Ile702Thr)
c.1640T>C (p.Ile547Thr)
 ClinVar dbSNP gnomAD v4
18g.23544420A>TCA401771404NPC1c.2054T>A (p.Ile685Asn)
n.1968T>A
c.1132T>A
c.2105T>A (p.Ile702Asn)
c.1640T>A (p.Ile547Asn)
 gnomAD v4
18g.23544421T>ACA401771405NPC1c.2053A>T (p.Ile685Phe)
n.1967A>T
c.1131A>T
c.2104A>T (p.Ile702Phe)
c.1639A>T (p.Ile547Phe)
18g.23544421T>CCA401771406NPC1c.2053A>G (p.Ile685Val)
n.1967A>G
c.1131A>G
c.2104A>G (p.Ile702Val)
c.1639A>G (p.Ile547Val)
 ClinVar dbSNP
18g.23544421T>GCA401771407NPC1c.2053A>C (p.Ile685Leu)
n.1967A>C
c.1131A>C
c.2104A>C (p.Ile702Leu)
c.1639A>C (p.Ile547Leu)
 ClinVar
18g.23544421T=CA2290168073NPC1c.2053A= (p.Ile685=)
n.1967A=
c.1131A=
c.2104A= (p.Ile702=)
c.1639A= (p.Ile547=)
18g.23544422G>ACA503324705NPC1c.2052C>T (p.Leu684=)
n.1966C>T
c.1130C>T
c.2103C>T (p.Leu701=)
c.1638C>T (p.Leu546=)
 ClinVar dbSNP
18g.23544422G>CCA503324706NPC1c.2052C>G (p.Leu684=)
n.1966C>G
c.1130C>G
c.2103C>G (p.Leu701=)
c.1638C>G (p.Leu546=)
18g.23544422G>TCA503324707NPC1c.2052C>A (p.Leu684=)
n.1966C>A
c.1130C>A
c.2103C>A (p.Leu701=)
c.1638C>A (p.Leu546=)
18g.23544423A>CCA401771408NPC1c.2051T>G (p.Leu684Arg)
n.1965T>G
c.1129T>G
c.2102T>G (p.Leu701Arg)
c.1637T>G (p.Leu546Arg)
 gnomAD v4
18g.23544423A>GCA401771409NPC1c.2051T>C (p.Leu684Pro)
n.1965T>C
c.1129T>C
c.2102T>C (p.Leu701Pro)
c.1637T>C (p.Leu546Pro)
18g.23544423A>TCA401771410NPC1c.2051T>A (p.Leu684His)
n.1965T>A
c.1129T>A
c.2102T>A (p.Leu701His)
c.1637T>A (p.Leu546His)
18g.23544424G>ACA16043539NPC1c.2050C>T (p.Leu684Phe)
n.1964C>T
c.1128C>T
c.2101C>T (p.Leu701Phe)
c.1636C>T (p.Leu546Phe)
 ClinVar dbSNP
18g.23544424G>CCA401771411NPC1c.2050C>G (p.Leu684Val)
n.1964C>G
c.1128C>G
c.2101C>G (p.Leu701Val)
c.1636C>G (p.Leu546Val)
18g.23544424G=CA2290168074NPC1c.2050C= (p.Leu684=)
n.1964C=
c.1128C=
c.2101C= (p.Leu701=)
c.1636C= (p.Leu546=)
18g.23544424G>TCA401771412NPC1c.2050C>A (p.Leu684Ile)
n.1964C>A
c.1128C>A
c.2101C>A (p.Leu701Ile)
c.1636C>A (p.Leu546Ile)
18g.23544426delCA2811804836NPC1c.2050del (p.Leu684SerfsTer3)
n.1964del
c.1128del
c.2101del (p.Leu701SerfsTer3)
c.1636del (p.Leu546SerfsTer3)
18g.23544425G>ACA503324710NPC1c.2049C>T (p.Thr683=)
n.1963C>T
c.1127C>T
c.2100C>T (p.Thr700=)
c.1635C>T (p.Thr545=)
 dbSNP gnomAD v3 gnomAD v4
18g.23544425G>CCA503324709NPC1c.2049C>G (p.Thr683=)
n.1963C>G
c.1127C>G
c.2100C>G (p.Thr700=)
c.1635C>G (p.Thr545=)
18g.23544425G=CA2290168075NPC1c.2049C= (p.Thr683=)
n.1963C=
c.1127C=
c.2100C= (p.Thr700=)
c.1635C= (p.Thr545=)
18g.23544425G>TCA503324708NPC1c.2049C>A (p.Thr683=)
n.1963C>A
c.1127C>A
c.2100C>A (p.Thr700=)
c.1635C>A (p.Thr545=)
18g.23544425_23544427dupCA988383288NPC1c.2047_2049dup (p.Thr683_Leu684insThr)
n.1961_1963dup
c.1125_1127dup
c.2098_2100dup (p.Thr700_Leu701insThr)
c.1633_1635dup (p.Thr545_Leu546insThr)
 dbSNP gnomAD v3 gnomAD v4
18g.23544426G>ACA401771413NPC1c.2048C>T (p.Thr683Ile)
n.1962C>T
c.1126C>T
c.2099C>T (p.Thr700Ile)
c.1634C>T (p.Thr545Ile)
18g.23544426G>CCA401771414NPC1c.2048C>G (p.Thr683Ser)
n.1962C>G
c.1126C>G
c.2099C>G (p.Thr700Ser)
c.1634C>G (p.Thr545Ser)
18g.23544426G>TCA401771415NPC1c.2048C>A (p.Thr683Asn)
n.1962C>A
c.1126C>A
c.2099C>A (p.Thr700Asn)
c.1634C>A (p.Thr545Asn)
18g.23544426_23544428delCA2695227326NPC1c.2046_2048del (p.Leu682_Thr683delinsPhe)
n.1960_1962del
c.1124_1126del
c.2097_2099del (p.Leu699_Thr700delinsPhe)
c.1632_1634del (p.Leu544_Thr545delinsPhe)
18g.23544426_23544429delinsTCA2695227325NPC1c.2045_2048delinsA (p.Leu682_Thr683delinsTyr)
n.1959_1962delinsA
c.1123_1126delinsA
c.2096_2099delinsA (p.Leu699_Thr700delinsTyr)
c.1631_1634delinsA (p.Leu544_Thr545delinsTyr)
18g.23544427T>ACA401771418NPC1c.2047A>T (p.Thr683Ser)
n.1961A>T
c.1125A>T
c.2098A>T (p.Thr700Ser)
c.1633A>T (p.Thr545Ser)
18g.23544427T>CCA401771416NPC1c.2047A>G (p.Thr683Ala)
n.1961A>G
c.1125A>G
c.2098A>G (p.Thr700Ala)
c.1633A>G (p.Thr545Ala)
18g.23544427T>GCA401771417NPC1c.2047A>C (p.Thr683Pro)
n.1961A>C
c.1125A>C
c.2098A>C (p.Thr700Pro)
c.1633A>C (p.Thr545Pro)
18g.23544427_23544428delCA2580095609NPC1c.2046_2047del (p.Leu682PhefsTer6)
n.1960_1961del
c.1124_1125del
c.2097_2098del (p.Leu699PhefsTer6)
c.1632_1633del (p.Leu544PhefsTer6)
 ClinVar
18g.23544428C>ACA401771419NPC1c.2046G>T (p.Leu682Phe)
n.1960G>T
c.1124G>T
c.2097G>T (p.Leu699Phe)
c.1632G>T (p.Leu544Phe)
18g.23544428C=CA2290168076NPC1c.2046G= (p.Leu682=)
n.1960G=
c.1124G=
c.2097G= (p.Leu699=)
c.1632G= (p.Leu544=)
18g.23544428C>GCA401771420NPC1c.2046G>C (p.Leu682Phe)
n.1960G>C
c.1124G>C
c.2097G>C (p.Leu699Phe)
c.1632G>C (p.Leu544Phe)
18g.23544428C>TCA503324711NPC1c.2046G>A (p.Leu682=)
n.1960G>A
c.1124G>A
c.2097G>A (p.Leu699=)
c.1632G>A (p.Leu544=)
 ClinVar dbSNP
18g.23544428_23544429delCA2811804840NPC1c.2045_2046del (p.Leu682TyrfsTer6)
n.1959_1960del
c.1123_1124del
c.2096_2097del (p.Leu699TyrfsTer6)
c.1631_1632del (p.Leu544TyrfsTer6)
18g.23544429A=CA2290168077NPC1c.2045T= (p.Leu682=)
n.1959T=
c.1123T=
c.2096T= (p.Leu699=)
c.1631T= (p.Leu544=)
18g.23544429A>CCA401771421NPC1c.2045T>G (p.Leu682Trp)
n.1959T>G
c.1123T>G
c.2096T>G (p.Leu699Trp)
c.1631T>G (p.Leu544Trp)
 dbSNP gnomAD v4
18g.23544429A>GCA401771422NPC1c.2045T>C (p.Leu682Ser)
n.1959T>C
c.1123T>C
c.2096T>C (p.Leu699Ser)
c.1631T>C (p.Leu544Ser)
18g.23544429A>TCA401771423NPC1c.2045T>A (p.Leu682Ter)
n.1959T>A
c.1123T>A
c.2096T>A (p.Leu699Ter)
c.1631T>A (p.Leu544Ter)
18g.23544429_23544430insCAGATGTGTATGACCA2580095610NPC1c.2044_2045insGTCATACACATCTG (p.Leu682CysfsTer6)
n.1958_1959insGTCATACACATCTG
c.1122_1123insGTCATACACATCTG
c.2095_2096insGTCATACACATCTG (p.Leu699CysfsTer6)
c.1630_1631insGTCATACACATCTG (p.Leu544CysfsTer6)
 ClinVar
18g.23544430A=CA2290168078NPC1c.2044T= (p.Leu682=)
n.1958T=
c.1122T=
c.2095T= (p.Leu699=)
c.1630T= (p.Leu544=)
18g.23544430A>CCA401771424NPC1c.2044T>G (p.Leu682Val)
n.1958T>G
c.1122T>G
c.2095T>G (p.Leu699Val)
c.1630T>G (p.Leu544Val)
18g.23544430A>GCA503324712NPC1c.2044T>C (p.Leu682=)
n.1958T>C
c.1122T>C
c.2095T>C (p.Leu699=)
c.1630T>C (p.Leu544=)
18g.23544430A>TCA401771425NPC1c.2044T>A (p.Leu682Met)
n.1958T>A
c.1122T>A
c.2095T>A (p.Leu699Met)
c.1630T>A (p.Leu544Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched