Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23544335del | CA2290168027 | NPC1 | c.2130+10del (n.2130+10del) n.2044+10del c.1208+10del c.2181+10del (n.2181+10del) c.1716+10del (n.1716+10del) | dbSNP |
18 | g.23544335G= | CA2290168029 | NPC1 | c.2130+9C= (n.2130+9C=) n.2044+9C= c.1208+9C= c.2181+9C= (n.2181+9C=) c.1716+9C= (n.1716+9C=) | |
18 | g.23544335G>T | CA297059420 | NPC1 | c.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 |
18 | g.23544337_23544342del | CA2641275949 | NPC1 | c.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 |
18 | g.23544337A= | CA2290168030 | NPC1 | c.2130+7T= (n.2130+7T=) n.2044+7T= c.1208+7T= c.2181+7T= (n.2181+7T=) c.1716+7T= (n.1716+7T=) | |
18 | g.23544337A>C | CA915952523 | NPC1 | c.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 |
18 | g.23544337A>G | CA628978793 | NPC1 | c.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 |
18 | g.23544338G>T | CA2641275956 | NPC1 | c.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 |
18 | g.23544339T>C | CA503324650 | NPC1 | c.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 |
18 | g.23544340A>G | CA2641275961 | NPC1 | c.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 |
18 | g.23544341T>C | CA297059426 | NPC1 | c.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 |
18 | g.23544341T= | CA2290168031 | NPC1 | c.2130+3A= (n.2130+3A=) n.2044+3A= c.1208+3A= c.2181+3A= (n.2181+3A=) c.1716+3A= (n.1716+3A=) | |
18 | g.23544342A>C | CA401771238 | NPC1 | c.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) | |
18 | g.23544342A>G | CA401771239 | NPC1 | c.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) | |
18 | g.23544342A>T | CA401771240 | NPC1 | c.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) | |
18 | g.23544343C>A | CA401771241 | NPC1 | c.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 |
18 | g.23544343C= | CA2290168032 | NPC1 | c.2130+1G= (n.2130+1G=) n.2044+1G= c.1208+1G= c.2181+1G= (n.2181+1G=) c.1716+1G= (n.1716+1G=) | |
18 | g.23544343C>G | CA401771242 | NPC1 | c.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 |
18 | g.23544343C>T | CA401771243 | NPC1 | c.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 |
18 | g.23544344dup | CA2695227322 | NPC1 | c.2130+1dup n.2044+1dup c.1208+1dup c.2181+1dup c.1716+1dup | |
18 | g.23544344C>A | CA401771245 | NPC1 | c.2130G>T (p.Gln710His) n.2044G>T c.1208G>T c.2181G>T (p.Gln727His) c.1716G>T (p.Gln572His) | |
18 | g.23544344C>G | CA401771244 | NPC1 | c.2130G>C (p.Gln710His) n.2044G>C c.1208G>C c.2181G>C (p.Gln727His) c.1716G>C (p.Gln572His) | |
18 | g.23544344C>T | CA503324651 | NPC1 | c.2130G>A (p.Gln710=) n.2044G>A c.1208G>A c.2181G>A (p.Gln727=) c.1716G>A (p.Gln572=) | |
18 | g.23544344_23544345del | CA2576470972 | NPC1 | c.2129_2130del (p.Asp712Ter) n.2043_2044del c.1207_1208del c.2180_2181del (p.Asp729Ter) c.1715_1716del (p.Asp574Ter) | |
18 | g.23544344_23544345delinsCT | CA2290168033 | NPC1 | c.2129_2130delinsAG (p.Gln710=) n.2043_2044delinsAG c.1207_1208delinsAG c.2180_2181delinsAG (p.Gln727=) c.1715_1716delinsAG (p.Gln572=) | |
18 | g.23544345del | CA2290168034 | NPC1 | c.2129del (p.Gln710ArgfsTer19) n.2043del c.1207del c.2180del (p.Gln727ArgfsTer19) c.1715del (p.Gln572ArgfsTer19) | ClinVar dbSNP gnomAD v4 |
18 | g.23544345T>A | CA401771246 | NPC1 | c.2129A>T (p.Gln710Leu) n.2043A>T c.1207A>T c.2180A>T (p.Gln727Leu) c.1715A>T (p.Gln572Leu) | |
18 | g.23544345T>C | CA401771247 | NPC1 | c.2129A>G (p.Gln710Arg) n.2043A>G c.1207A>G c.2180A>G (p.Gln727Arg) c.1715A>G (p.Gln572Arg) | |
18 | g.23544345T>G | CA297059435 | NPC1 | c.2129A>C (p.Gln710Pro) n.2043A>C c.1207A>C c.2180A>C (p.Gln727Pro) c.1715A>C (p.Gln572Pro) | dbSNP |
18 | g.23544345T= | CA2290168035 | NPC1 | c.2129A= (p.Gln710=) n.2043A= c.1207A= c.2180A= (p.Gln727=) c.1715A= (p.Gln572=) | |
18 | g.23544346_23544348del | CA2641275976 | NPC1 | c.2127_2129del (p.Tyr709Ter) n.2041_2043del c.1205_1207del c.2178_2180del (p.Tyr726Ter) c.1713_1715del (p.Tyr571Ter) | gnomAD v4 |
18 | g.23544346G>A | CA269825 | NPC1 | c.2128C>T (p.Gln710Ter) n.2042C>T c.1206C>T c.2179C>T (p.Gln727Ter) c.1714C>T (p.Gln572Ter) | ClinVar dbSNP |
18 | g.23544346G>C | CA401771248 | NPC1 | c.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 |
18 | g.23544346G= | CA2290168036 | NPC1 | c.2128C= (p.Gln710=) n.2042C= c.1206C= c.2179C= (p.Gln727=) c.1714C= (p.Gln572=) | |
18 | g.23544346G>T | CA401771249 | NPC1 | c.2128C>A (p.Gln710Lys) n.2042C>A c.1206C>A c.2179C>A (p.Gln727Lys) c.1714C>A (p.Gln572Lys) | |
18 | g.23544347G>A | CA503324652 | NPC1 | c.2127C>T (p.Tyr709=) n.2041C>T c.1205C>T c.2178C>T (p.Tyr726=) c.1713C>T (p.Tyr571=) | ClinVar |
18 | g.23544347G>C | CA401771251 | NPC1 | c.2127C>G (p.Tyr709Ter) n.2041C>G c.1205C>G c.2178C>G (p.Tyr726Ter) c.1713C>G (p.Tyr571Ter) | |
18 | g.23544347G>T | CA401771250 | NPC1 | c.2127C>A (p.Tyr709Ter) n.2041C>A c.1205C>A c.2178C>A (p.Tyr726Ter) c.1713C>A (p.Tyr571Ter) | |
18 | g.23544348T>A | CA8913225 | NPC1 | c.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 |
18 | g.23544348T>C | CA401771252 | NPC1 | c.2126A>G (p.Tyr709Cys) n.2040A>G c.1204A>G c.2177A>G (p.Tyr726Cys) c.1712A>G (p.Tyr571Cys) | dbSNP |
18 | g.23544348T>G | CA401771253 | NPC1 | c.2126A>C (p.Tyr709Ser) n.2040A>C c.1204A>C c.2177A>C (p.Tyr726Ser) c.1712A>C (p.Tyr571Ser) | ClinVar |
18 | g.23544348T= | CA2290168037 | NPC1 | c.2126A= (p.Tyr709=) n.2040A= c.1204A= c.2177A= (p.Tyr726=) c.1712A= (p.Tyr571=) | |
18 | g.23544349A>C | CA401771254 | NPC1 | c.2125T>G (p.Tyr709Asp) n.2039T>G c.1203T>G c.2176T>G (p.Tyr726Asp) c.1711T>G (p.Tyr571Asp) | |
18 | g.23544349A>G | CA401771255 | NPC1 | c.2125T>C (p.Tyr709His) n.2039T>C c.1203T>C c.2176T>C (p.Tyr726His) c.1711T>C (p.Tyr571His) | |
18 | g.23544349A>T | CA401771256 | NPC1 | c.2125T>A (p.Tyr709Asn) n.2039T>A c.1203T>A c.2176T>A (p.Tyr726Asn) c.1711T>A (p.Tyr571Asn) | |
18 | g.23544350G>A | CA503324653 | NPC1 | c.2124C>T (p.Ala708=) n.2038C>T c.1202C>T c.2175C>T (p.Ala725=) c.1710C>T (p.Ala570=) | ClinVar |
18 | g.23544350G>C | CA503324654 | NPC1 | c.2124C>G (p.Ala708=) n.2038C>G c.1202C>G c.2175C>G (p.Ala725=) c.1710C>G (p.Ala570=) | |
18 | g.23544350G>T | CA503324655 | NPC1 | c.2124C>A (p.Ala708=) n.2038C>A c.1202C>A c.2175C>A (p.Ala725=) c.1710C>A (p.Ala570=) | |
18 | g.23544351G>A | CA401771257 | NPC1 | c.2123C>T (p.Ala708Val) n.2037C>T c.1201C>T c.2174C>T (p.Ala725Val) c.1709C>T (p.Ala570Val) | |
18 | g.23544351G>C | CA401771259 | NPC1 | c.2123C>G (p.Ala708Gly) n.2037C>G c.1201C>G c.2174C>G (p.Ala725Gly) c.1709C>G (p.Ala570Gly) | |
18 | g.23544351G>T | CA401771258 | NPC1 | c.2123C>A (p.Ala708Asp) n.2037C>A c.1201C>A c.2174C>A (p.Ala725Asp) c.1709C>A (p.Ala570Asp) | |
18 | g.23544352C>A | CA401771260 | NPC1 | c.2122G>T (p.Ala708Ser) n.2036G>T c.1200G>T c.2173G>T (p.Ala725Ser) c.1708G>T (p.Ala570Ser) | |
18 | g.23544352C>G | CA401771261 | NPC1 | c.2122G>C (p.Ala708Pro) n.2036G>C c.1200G>C c.2173G>C (p.Ala725Pro) c.1708G>C (p.Ala570Pro) | |
18 | g.23544352C>T | CA401771262 | NPC1 | c.2122G>A (p.Ala708Thr) n.2036G>A c.1200G>A c.2173G>A (p.Ala725Thr) c.1708G>A (p.Ala570Thr) | |
18 | g.23544353C>A | CA401771263 | NPC1 | c.2121G>T (p.Gln707His) n.2035G>T c.1199G>T c.2172G>T (p.Gln724His) c.1707G>T (p.Gln569His) | |
18 | g.23544353C>G | CA401771264 | NPC1 | c.2121G>C (p.Gln707His) n.2035G>C c.1199G>C c.2172G>C (p.Gln724His) c.1707G>C (p.Gln569His) | |
18 | g.23544353C>T | CA503324656 | NPC1 | c.2121G>A (p.Gln707=) n.2035G>A c.1199G>A c.2172G>A (p.Gln724=) c.1707G>A (p.Gln569=) | |
18 | g.23544354T>A | CA401771265 | NPC1 | c.2120A>T (p.Gln707Leu) n.2034A>T c.1198A>T c.2171A>T (p.Gln724Leu) c.1706A>T (p.Gln569Leu) | |
18 | g.23544354T>C | CA401771266 | NPC1 | c.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 |
18 | g.23544354T>G | CA401771267 | NPC1 | c.2120A>C (p.Gln707Pro) n.2034A>C c.1198A>C c.2171A>C (p.Gln724Pro) c.1706A>C (p.Gln569Pro) | |
18 | g.23544354T= | CA2290168038 | NPC1 | c.2120A= (p.Gln707=) n.2034A= c.1198A= c.2171A= (p.Gln724=) c.1706A= (p.Gln569=) | |
18 | g.23544355G>A | CA401771268 | NPC1 | c.2119C>T (p.Gln707Ter) n.2033C>T c.1197C>T c.2170C>T (p.Gln724Ter) c.1705C>T (p.Gln569Ter) | |
18 | g.23544355G>C | CA401771269 | NPC1 | c.2119C>G (p.Gln707Glu) n.2033C>G c.1197C>G c.2170C>G (p.Gln724Glu) c.1705C>G (p.Gln569Glu) | |
18 | g.23544355G>T | CA401771270 | NPC1 | c.2119C>A (p.Gln707Lys) n.2033C>A c.1197C>A c.2170C>A (p.Gln724Lys) c.1705C>A (p.Gln569Lys) | |
18 | g.23544356C>A | CA503324657 | NPC1 | c.2118G>T (p.Val706=) n.2032G>T c.1196G>T c.2169G>T (p.Val723=) c.1704G>T (p.Val568=) | |
18 | g.23544356C= | CA2290168039 | NPC1 | c.2118G= (p.Val706=) n.2032G= c.1196G= c.2169G= (p.Val723=) c.1704G= (p.Val568=) | |
18 | g.23544356C>G | CA503324658 | NPC1 | c.2118G>C (p.Val706=) n.2032G>C c.1196G>C c.2169G>C (p.Val723=) c.1704G>C (p.Val568=) | |
18 | g.23544356C>T | CA503324659 | NPC1 | c.2118G>A (p.Val706=) n.2032G>A c.1196G>A c.2169G>A (p.Val723=) c.1704G>A (p.Val568=) | dbSNP gnomAD v4 |
18 | g.23544357A= | CA2290168040 | NPC1 | c.2117T= (p.Val706=) n.2031T= c.1195T= c.2168T= (p.Val723=) c.1703T= (p.Val568=) | |
18 | g.23544357A>C | CA401771272 | NPC1 | c.2117T>G (p.Val706Gly) n.2031T>G c.1195T>G c.2168T>G (p.Val723Gly) c.1703T>G (p.Val568Gly) | |
18 | g.23544357A>G | CA8913226 | NPC1 | c.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 |
18 | g.23544357A>T | CA401771271 | NPC1 | c.2117T>A (p.Val706Glu) n.2031T>A c.1195T>A c.2168T>A (p.Val723Glu) c.1703T>A (p.Val568Glu) | |
18 | g.23544358C>A | CA401771273 | NPC1 | c.2116G>T (p.Val706Leu) n.2030G>T c.1194G>T c.2167G>T (p.Val723Leu) c.1702G>T (p.Val568Leu) | gnomAD v4 |
18 | g.23544358C= | CA2290168041 | NPC1 | c.2116G= (p.Val706=) n.2030G= c.1194G= c.2167G= (p.Val723=) c.1702G= (p.Val568=) | |
18 | g.23544358C>G | CA401771274 | NPC1 | c.2116G>C (p.Val706Leu) n.2030G>C c.1194G>C c.2167G>C (p.Val723Leu) c.1702G>C (p.Val568Leu) | |
18 | g.23544358C>T | CA401771275 | NPC1 | c.2116G>A (p.Val706Met) n.2030G>A c.1194G>A c.2167G>A (p.Val723Met) c.1702G>A (p.Val568Met) | dbSNP gnomAD v4 |
18 | g.23544359C>A | CA503324660 | NPC1 | c.2115G>T (p.Leu705=) n.2029G>T c.1193G>T c.2166G>T (p.Leu722=) c.1701G>T (p.Leu567=) | |
18 | g.23544359C>G | CA503324661 | NPC1 | c.2115G>C (p.Leu705=) n.2029G>C c.1193G>C c.2166G>C (p.Leu722=) c.1701G>C (p.Leu567=) | |
18 | g.23544359C>T | CA503324662 | NPC1 | c.2115G>A (p.Leu705=) n.2029G>A c.1193G>A c.2166G>A (p.Leu722=) c.1701G>A (p.Leu567=) | ClinVar |
18 | g.23544360A>C | CA401771276 | NPC1 | c.2114T>G (p.Leu705Arg) n.2028T>G c.1192T>G c.2165T>G (p.Leu722Arg) c.1700T>G (p.Leu567Arg) | |
18 | g.23544360A>G | CA401771277 | NPC1 | c.2114T>C (p.Leu705Pro) n.2028T>C c.1192T>C c.2165T>C (p.Leu722Pro) c.1700T>C (p.Leu567Pro) | |
18 | g.23544360A>T | CA401771278 | NPC1 | c.2114T>A (p.Leu705Gln) n.2028T>A c.1192T>A c.2165T>A (p.Leu722Gln) c.1700T>A (p.Leu567Gln) | |
18 | g.23544361G>A | CA503324663 | NPC1 | c.2113C>T (p.Leu705=) n.2027C>T c.1191C>T c.2164C>T (p.Leu722=) c.1699C>T (p.Leu567=) | |
18 | g.23544361G>C | CA401771279 | NPC1 | c.2113C>G (p.Leu705Val) n.2027C>G c.1191C>G c.2164C>G (p.Leu722Val) c.1699C>G (p.Leu567Val) | |
18 | g.23544361G>T | CA401771280 | NPC1 | c.2113C>A (p.Leu705Met) n.2027C>A c.1191C>A c.2164C>A (p.Leu722Met) c.1699C>A (p.Leu567Met) | |
18 | g.23544362A>C | CA401771281 | NPC1 | c.2112T>G (p.Ile704Met) n.2026T>G c.1190T>G c.2163T>G (p.Ile721Met) c.1698T>G (p.Ile566Met) | |
18 | g.23544362A>G | CA503324664 | NPC1 | c.2112T>C (p.Ile704=) n.2026T>C c.1190T>C c.2163T>C (p.Ile721=) c.1698T>C (p.Ile566=) | |
18 | g.23544362A>T | CA503324665 | NPC1 | c.2112T>A (p.Ile704=) n.2026T>A c.1190T>A c.2163T>A (p.Ile721=) c.1698T>A (p.Ile566=) | |
18 | g.23544363del | CA2641276002 | NPC1 | c.2112del (p.Leu705TrpfsTer24) n.2026del c.1190del c.2163del (p.Leu722TrpfsTer24) c.1698del (p.Leu567TrpfsTer24) | gnomAD v4 |
18 | g.23544363A>C | CA401771282 | NPC1 | c.2111T>G (p.Ile704Ser) n.2025T>G c.1189T>G c.2162T>G (p.Ile721Ser) c.1697T>G (p.Ile566Ser) | |
18 | g.23544363A>G | CA401771283 | NPC1 | c.2111T>C (p.Ile704Thr) n.2025T>C c.1189T>C c.2162T>C (p.Ile721Thr) c.1697T>C (p.Ile566Thr) | |
18 | g.23544363A>T | CA401771284 | NPC1 | c.2111T>A (p.Ile704Asn) n.2025T>A c.1189T>A c.2162T>A (p.Ile721Asn) c.1697T>A (p.Ile566Asn) | |
18 | g.23544364T>A | CA401771287 | NPC1 | c.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 |
18 | g.23544364T>C | CA401771286 | NPC1 | c.2110A>G (p.Ile704Val) n.2024A>G c.1188A>G c.2161A>G (p.Ile721Val) c.1696A>G (p.Ile566Val) | |
18 | g.23544364T>G | CA401771285 | NPC1 | c.2110A>C (p.Ile704Leu) n.2024A>C c.1188A>C c.2161A>C (p.Ile721Leu) c.1696A>C (p.Ile566Leu) | |
18 | g.23544364T= | CA2290168042 | NPC1 | c.2110A= (p.Ile704=) n.2024A= c.1188A= c.2161A= (p.Ile721=) c.1696A= (p.Ile566=) | |
18 | g.23544365G>A | CA297059452 | NPC1 | c.2109C>T (p.Phe703=) n.2023C>T c.1187C>T c.2160C>T (p.Phe720=) c.1695C>T (p.Phe565=) | dbSNP |
18 | g.23544365G>C | CA401771289 | NPC1 | c.2109C>G (p.Phe703Leu) n.2023C>G c.1187C>G c.2160C>G (p.Phe720Leu) c.1695C>G (p.Phe565Leu) | |
18 | g.23544365G= | CA2290168043 | NPC1 | c.2109C= (p.Phe703=) n.2023C= c.1187C= c.2160C= (p.Phe720=) c.1695C= (p.Phe565=) | |
18 | g.23544365G>T | CA401771288 | NPC1 | c.2109C>A (p.Phe703Leu) n.2023C>A c.1187C>A c.2160C>A (p.Phe720Leu) c.1695C>A (p.Phe565Leu) | |
18 | g.23544366A= | CA2290168044 | NPC1 | c.2108T= (p.Phe703=) n.2022T= c.1186T= c.2159T= (p.Phe720=) c.1694T= (p.Phe565=) | |
18 | g.23544366A>C | CA401771290 | NPC1 | c.2108T>G (p.Phe703Cys) n.2022T>G c.1186T>G c.2159T>G (p.Phe720Cys) c.1694T>G (p.Phe565Cys) | |
18 | g.23544366A>G | CA401771291 | NPC1 | c.2108T>C (p.Phe703Ser) n.2022T>C c.1186T>C c.2159T>C (p.Phe720Ser) c.1694T>C (p.Phe565Ser) | ClinVar dbSNP |
18 | g.23544366A>T | CA401771292 | NPC1 | c.2108T>A (p.Phe703Tyr) n.2022T>A c.1186T>A c.2159T>A (p.Phe720Tyr) c.1694T>A (p.Phe565Tyr) | |
18 | g.23544367A= | CA2290168045 | NPC1 | c.2107T= (p.Phe703=) n.2021T= c.1185T= c.2158T= (p.Phe720=) c.1693T= (p.Phe565=) | |
18 | g.23544367A>C | CA401771293 | NPC1 | c.2107T>G (p.Phe703Val) n.2021T>G c.1185T>G c.2158T>G (p.Phe720Val) c.1693T>G (p.Phe565Val) | |
18 | g.23544367A>G | CA401771294 | NPC1 | c.2107T>C (p.Phe703Leu) n.2021T>C c.1185T>C c.2158T>C (p.Phe720Leu) c.1693T>C (p.Phe565Leu) | |
18 | g.23544367A>T | CA8913227 | NPC1 | c.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 |
18 | g.23544368G>A | CA503324666 | NPC1 | c.2106C>T (p.Ile702=) n.2020C>T c.1184C>T c.2157C>T (p.Ile719=) c.1692C>T (p.Ile564=) | gnomAD v4 |
18 | g.23544368G>C | CA401771295 | NPC1 | c.2106C>G (p.Ile702Met) n.2020C>G c.1184C>G c.2157C>G (p.Ile719Met) c.1692C>G (p.Ile564Met) | |
18 | g.23544368G>T | CA503324667 | NPC1 | c.2106C>A (p.Ile702=) n.2020C>A c.1184C>A c.2157C>A (p.Ile719=) c.1692C>A (p.Ile564=) | |
18 | g.23544369A= | CA2290168046 | NPC1 | c.2105T= (p.Ile702=) n.2019T= c.1183T= c.2156T= (p.Ile719=) c.1691T= (p.Ile564=) | |
18 | g.23544369A>C | CA401771296 | NPC1 | c.2105T>G (p.Ile702Ser) n.2019T>G c.1183T>G c.2156T>G (p.Ile719Ser) c.1691T>G (p.Ile564Ser) | |
18 | g.23544369A>G | CA401771297 | NPC1 | c.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 |
18 | g.23544369A>T | CA401771298 | NPC1 | c.2105T>A (p.Ile702Asn) n.2019T>A c.1183T>A c.2156T>A (p.Ile719Asn) c.1691T>A (p.Ile564Asn) | |
18 | g.23544370T>A | CA401771301 | NPC1 | c.2104A>T (p.Ile702Phe) n.2018A>T c.1182A>T c.2155A>T (p.Ile719Phe) c.1690A>T (p.Ile564Phe) | gnomAD v4 |
18 | g.23544370T>C | CA401771300 | NPC1 | c.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 |
18 | g.23544370T>G | CA401771299 | NPC1 | c.2104A>C (p.Ile702Leu) n.2018A>C c.1182A>C c.2155A>C (p.Ile719Leu) c.1690A>C (p.Ile564Leu) | |
18 | g.23544370T= | CA2290168047 | NPC1 | c.2104A= (p.Ile702=) n.2018A= c.1182A= c.2155A= (p.Ile719=) c.1690A= (p.Ile564=) | |
18 | g.23544371G>A | CA201000 | NPC1 | c.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 |
18 | g.23544371G>C | CA401771302 | NPC1 | c.2103C>G (p.Asn701Lys) n.2017C>G c.1181C>G c.2154C>G (p.Asn718Lys) c.1689C>G (p.Asn563Lys) | ClinVar dbSNP |
18 | g.23544371G= | CA2290168048 | NPC1 | c.2103C= (p.Asn701=) n.2017C= c.1181C= c.2154C= (p.Asn718=) c.1689C= (p.Asn563=) | |
18 | g.23544371G>T | CA401771303 | NPC1 | c.2103C>A (p.Asn701Lys) n.2017C>A c.1181C>A c.2154C>A (p.Asn718Lys) c.1689C>A (p.Asn563Lys) | |
18 | g.23544371_23544372delinsAC | CA2573155266 | NPC1 | c.2102_2103delinsGT (p.Asn701Ser) n.2016_2017delinsGT c.1180_1181delinsGT c.2153_2154delinsGT (p.Asn718Ser) c.1688_1689delinsGT (p.Asn563Ser) | ClinVar |
18 | g.23544372T>A | CA401771304 | NPC1 | c.2102A>T (p.Asn701Ile) n.2016A>T c.1180A>T c.2153A>T (p.Asn718Ile) c.1688A>T (p.Asn563Ile) | |
18 | g.23544372T>C | CA297059488 | NPC1 | c.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 |
18 | g.23544372T>G | CA401771305 | NPC1 | c.2102A>C (p.Asn701Thr) n.2016A>C c.1180A>C c.2153A>C (p.Asn718Thr) c.1688A>C (p.Asn563Thr) | |
18 | g.23544372T= | CA2290168049 | NPC1 | c.2102A= (p.Asn701=) n.2016A= c.1180A= c.2153A= (p.Asn718=) c.1688A= (p.Asn563=) | |
18 | g.23544373dup | CA2695227323 | NPC1 | c.2102dup (p.Asn701LysfsTer13) n.2016dup c.1180dup c.2153dup (p.Asn718LysfsTer13) c.1688dup (p.Asn563LysfsTer13) | |
18 | g.23544373T>A | CA401771306 | NPC1 | c.2101A>T (p.Asn701Tyr) n.2015A>T c.1179A>T c.2152A>T (p.Asn718Tyr) c.1687A>T (p.Asn563Tyr) | |
18 | g.23544373T>C | CA401771307 | NPC1 | c.2101A>G (p.Asn701Asp) n.2015A>G c.1179A>G c.2152A>G (p.Asn718Asp) c.1687A>G (p.Asn563Asp) | gnomAD v4 |
18 | g.23544373T>G | CA401771308 | NPC1 | c.2101A>C (p.Asn701His) n.2015A>C c.1179A>C c.2152A>C (p.Asn718His) c.1687A>C (p.Asn563His) | |
18 | g.23544374G>A | CA8913228 | NPC1 | c.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 |
18 | g.23544374G>C | CA401771309 | NPC1 | c.2100C>G (p.Asp700Glu) n.2014C>G c.1178C>G c.2151C>G (p.Asp717Glu) c.1686C>G (p.Asp562Glu) | |
18 | g.23544374G= | CA2290168050 | NPC1 | c.2100C= (p.Asp700=) n.2014C= c.1178C= c.2151C= (p.Asp717=) c.1686C= (p.Asp562=) | |
18 | g.23544374G>T | CA401771310 | NPC1 | c.2100C>A (p.Asp700Glu) n.2014C>A c.1178C>A c.2151C>A (p.Asp717Glu) c.1686C>A (p.Asp562Glu) | |
18 | g.23544375T>A | CA401771312 | NPC1 | c.2099A>T (p.Asp700Val) n.2013A>T c.1177A>T c.2150A>T (p.Asp717Val) c.1685A>T (p.Asp562Val) | |
18 | g.23544375T>C | CA401771313 | NPC1 | c.2099A>G (p.Asp700Gly) n.2013A>G c.1177A>G c.2150A>G (p.Asp717Gly) c.1685A>G (p.Asp562Gly) | |
18 | g.23544375T>G | CA401771311 | NPC1 | c.2099A>C (p.Asp700Ala) n.2013A>C c.1177A>C c.2150A>C (p.Asp717Ala) c.1685A>C (p.Asp562Ala) | gnomAD v4 |
18 | g.23544376C>A | CA401771314 | NPC1 | c.2098G>T (p.Asp700Tyr) n.2012G>T c.1176G>T c.2149G>T (p.Asp717Tyr) c.1684G>T (p.Asp562Tyr) | |
18 | g.23544376C= | CA2290168051 | NPC1 | c.2098G= (p.Asp700=) n.2012G= c.1176G= c.2149G= (p.Asp717=) c.1684G= (p.Asp562=) | |
18 | g.23544376C>G | CA401771315 | NPC1 | c.2098G>C (p.Asp700His) n.2012G>C c.1176G>C c.2149G>C (p.Asp717His) c.1684G>C (p.Asp562His) | dbSNP |
18 | g.23544376C>T | CA401771316 | NPC1 | c.2098G>A (p.Asp700Asn) n.2012G>A c.1176G>A c.2149G>A (p.Asp717Asn) c.1684G>A (p.Asp562Asn) | gnomAD v4 |
18 | g.23544377dup | CA2641276032 | NPC1 | c.2098dup (p.Asp700GlyfsTer14) n.2012dup c.1176dup c.2149dup (p.Asp717GlyfsTer14) c.1684dup (p.Asp562GlyfsTer14) | gnomAD v4 |
18 | g.23544377C>A | CA503324668 | NPC1 | c.2097G>T (p.Val699=) n.2011G>T c.1175G>T c.2148G>T (p.Val716=) c.1683G>T (p.Val561=) | |
18 | g.23544377C>G | CA503324669 | NPC1 | c.2097G>C (p.Val699=) n.2011G>C c.1175G>C c.2148G>C (p.Val716=) c.1683G>C (p.Val561=) | |
18 | g.23544377C>T | CA503324670 | NPC1 | c.2097G>A (p.Val699=) n.2011G>A c.1175G>A c.2148G>A (p.Val716=) c.1683G>A (p.Val561=) | |
18 | g.23544377_23544378delinsCA | CA2290168052 | NPC1 | c.2096_2097delinsTG (p.Val699=) n.2010_2011delinsTG c.1174_1175delinsTG c.2147_2148delinsTG (p.Val716=) c.1682_1683delinsTG (p.Val561=) | |
18 | g.23544378_23544379dup | CA2576470973 | NPC1 | c.2096_2097dup (p.Asp700TrpfsTer30) n.2010_2011dup c.1174_1175dup c.2147_2148dup (p.Asp717TrpfsTer30) c.1682_1683dup (p.Asp562TrpfsTer30) | ClinVar |
18 | g.23544378del | CA915952524 | NPC1 | c.2096del (p.Val699GlyfsTer30) n.2010del c.1174del c.2147del (p.Val716GlyfsTer30) c.1682del (p.Val561GlyfsTer30) | ClinVar dbSNP |
18 | g.23544378A>C | CA401771317 | NPC1 | c.2096T>G (p.Val699Gly) n.2010T>G c.1174T>G c.2147T>G (p.Val716Gly) c.1682T>G (p.Val561Gly) | gnomAD v4 |
18 | g.23544378A>G | CA401771318 | NPC1 | c.2096T>C (p.Val699Ala) n.2010T>C c.1174T>C c.2147T>C (p.Val716Ala) c.1682T>C (p.Val561Ala) | gnomAD v4 |
18 | g.23544378A>T | CA401771319 | NPC1 | c.2096T>A (p.Val699Glu) n.2010T>A c.1174T>A c.2147T>A (p.Val716Glu) c.1682T>A (p.Val561Glu) | |
18 | g.23544379C>A | CA401771320 | NPC1 | c.2095G>T (p.Val699Leu) n.2009G>T c.1173G>T c.2146G>T (p.Val716Leu) c.1681G>T (p.Val561Leu) | |
18 | g.23544379C>G | CA401771321 | NPC1 | c.2095G>C (p.Val699Leu) n.2009G>C c.1173G>C c.2146G>C (p.Val716Leu) c.1681G>C (p.Val561Leu) | |
18 | g.23544379C>T | CA401771322 | NPC1 | c.2095G>A (p.Val699Met) n.2009G>A c.1173G>A c.2146G>A (p.Val716Met) c.1681G>A (p.Val561Met) | |
18 | g.23544380T>A | CA503324671 | NPC1 | c.2094A>T (p.Gly698=) n.2008A>T c.1172A>T c.2145A>T (p.Gly715=) c.1680A>T (p.Gly560=) | |
18 | g.23544380T>C | CA503324672 | NPC1 | c.2094A>G (p.Gly698=) n.2008A>G c.1172A>G c.2145A>G (p.Gly715=) c.1680A>G (p.Gly560=) | ClinVar dbSNP gnomAD v4 |
18 | g.23544380T>G | CA503324673 | NPC1 | c.2094A>C (p.Gly698=) n.2008A>C c.1172A>C c.2145A>C (p.Gly715=) c.1680A>C (p.Gly560=) | |
18 | g.23544380T= | CA2290168053 | NPC1 | c.2094A= (p.Gly698=) n.2008A= c.1172A= c.2145A= (p.Gly715=) c.1680A= (p.Gly560=) | |
18 | g.23544381C>A | CA401771323 | NPC1 | c.2093G>T (p.Gly698Val) n.2007G>T c.1171G>T c.2144G>T (p.Gly715Val) c.1679G>T (p.Gly560Val) | |
18 | g.23544381C>G | CA401771324 | NPC1 | c.2093G>C (p.Gly698Ala) n.2007G>C c.1171G>C c.2144G>C (p.Gly715Ala) c.1679G>C (p.Gly560Ala) | |
18 | g.23544381C>T | CA401771325 | NPC1 | c.2093G>A (p.Gly698Glu) n.2007G>A c.1171G>A c.2144G>A (p.Gly715Glu) c.1679G>A (p.Gly560Glu) | |
18 | g.23544382C>A | CA401771327 | NPC1 | c.2092G>T (p.Gly698Ter) n.2006G>T c.1170G>T c.2143G>T (p.Gly715Ter) c.1678G>T (p.Gly560Ter) | ClinVar dbSNP |
18 | g.23544382C= | CA2290168054 | NPC1 | c.2092G= (p.Gly698=) n.2006G= c.1170G= c.2143G= (p.Gly715=) c.1678G= (p.Gly560=) | |
18 | g.23544382C>G | CA401771328 | NPC1 | c.2092G>C (p.Gly698Arg) n.2006G>C c.1170G>C c.2143G>C (p.Gly715Arg) c.1678G>C (p.Gly560Arg) | |
18 | g.23544382C>T | CA401771326 | NPC1 | c.2092G>A (p.Gly698Arg) n.2006G>A c.1170G>A c.2143G>A (p.Gly715Arg) c.1678G>A (p.Gly560Arg) | |
18 | g.23544383A>C | CA503324675 | NPC1 | c.2091T>G (p.Val697=) n.2005T>G c.1169T>G c.2142T>G (p.Val714=) c.1677T>G (p.Val559=) | |
18 | g.23544383A>G | CA503324676 | NPC1 | c.2091T>C (p.Val697=) n.2005T>C c.1169T>C c.2142T>C (p.Val714=) c.1677T>C (p.Val559=) | |
18 | g.23544383A>T | CA503324674 | NPC1 | c.2091T>A (p.Val697=) n.2005T>A c.1169T>A c.2142T>A (p.Val714=) c.1677T>A (p.Val559=) | |
18 | g.23544384A= | CA2290168055 | NPC1 | c.2090T= (p.Val697=) n.2004T= c.1168T= c.2141T= (p.Val714=) c.1676T= (p.Val559=) | |
18 | g.23544384A>C | CA401771329 | NPC1 | c.2090T>G (p.Val697Gly) n.2004T>G c.1168T>G c.2141T>G (p.Val714Gly) c.1676T>G (p.Val559Gly) | |
18 | g.23544384A>G | CA10647302 | NPC1 | c.2090T>C (p.Val697Ala) n.2004T>C c.1168T>C c.2141T>C (p.Val714Ala) c.1676T>C (p.Val559Ala) | ClinVar dbSNP gnomAD v4 |
18 | g.23544384A>T | CA401771330 | NPC1 | c.2090T>A (p.Val697Asp) n.2004T>A c.1168T>A c.2141T>A (p.Val714Asp) c.1676T>A (p.Val559Asp) | |
18 | g.23544385C>A | CA401771331 | NPC1 | c.2089G>T (p.Val697Phe) n.2003G>T c.1167G>T c.2140G>T (p.Val714Phe) c.1675G>T (p.Val559Phe) | |
18 | g.23544385C>G | CA401771332 | NPC1 | c.2089G>C (p.Val697Leu) n.2003G>C c.1167G>C c.2140G>C (p.Val714Leu) c.1675G>C (p.Val559Leu) | |
18 | g.23544385C>T | CA401771333 | NPC1 | c.2089G>A (p.Val697Ile) n.2003G>A c.1167G>A c.2140G>A (p.Val714Ile) c.1675G>A (p.Val559Ile) | gnomAD v4 |
18 | g.23544386A= | CA2290168056 | NPC1 | c.2088T= (p.Ala696=) n.2002T= c.1166T= c.2139T= (p.Ala713=) c.1674T= (p.Ala558=) | |
18 | g.23544386A>C | CA503324677 | NPC1 | c.2088T>G (p.Ala696=) n.2002T>G c.1166T>G c.2139T>G (p.Ala713=) c.1674T>G (p.Ala558=) | |
18 | g.23544386A>G | CA8913229 | NPC1 | c.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 |
18 | g.23544386A>T | CA503324678 | NPC1 | c.2088T>A (p.Ala696=) n.2002T>A c.1166T>A c.2139T>A (p.Ala713=) c.1674T>A (p.Ala558=) | dbSNP |
18 | g.23544387G>A | CA401771334 | NPC1 | c.2087C>T (p.Ala696Val) n.2001C>T c.1165C>T c.2138C>T (p.Ala713Val) c.1673C>T (p.Ala558Val) | |
18 | g.23544387G>C | CA401771335 | NPC1 | c.2087C>G (p.Ala696Gly) n.2001C>G c.1165C>G c.2138C>G (p.Ala713Gly) c.1673C>G (p.Ala558Gly) | |
18 | g.23544387G>T | CA401771336 | NPC1 | c.2087C>A (p.Ala696Asp) n.2001C>A c.1165C>A c.2138C>A (p.Ala713Asp) c.1673C>A (p.Ala558Asp) | |
18 | g.23544388C>A | CA401771337 | NPC1 | c.2086G>T (p.Ala696Ser) n.2000G>T c.1164G>T c.2137G>T (p.Ala713Ser) c.1672G>T (p.Ala558Ser) | |
18 | g.23544388C>G | CA401771338 | NPC1 | c.2086G>C (p.Ala696Pro) n.2000G>C c.1164G>C c.2137G>C (p.Ala713Pro) c.1672G>C (p.Ala558Pro) | |
18 | g.23544388C>T | CA401771339 | NPC1 | c.2086G>A (p.Ala696Thr) n.2000G>A c.1164G>A c.2137G>A (p.Ala713Thr) c.1672G>A (p.Ala558Thr) | |
18 | g.23544389del | CA2580095607 | NPC1 | c.2086del (p.Ala696LeufsTer?) n.2000del c.1164del c.2137del (p.Ala713LeufsTer?) c.1672del (p.Ala558LeufsTer?) | ClinVar |
18 | g.23544389C>A | CA503324681 | NPC1 | c.2085G>T (p.Leu695=) n.1999G>T c.1163G>T c.2136G>T (p.Leu712=) c.1671G>T (p.Leu557=) | |
18 | g.23544389C= | CA2290168057 | NPC1 | c.2085G= (p.Leu695=) n.1999G= c.1163G= c.2136G= (p.Leu712=) c.1671G= (p.Leu557=) | |
18 | g.23544389C>G | CA503324680 | NPC1 | c.2085G>C (p.Leu695=) n.1999G>C c.1163G>C c.2136G>C (p.Leu712=) c.1671G>C (p.Leu557=) | |
18 | g.23544389C>T | CA503324679 | NPC1 | c.2085G>A (p.Leu695=) n.1999G>A c.1163G>A c.2136G>A (p.Leu712=) c.1671G>A (p.Leu557=) | ClinVar dbSNP |
18 | g.23544390A>C | CA401771342 | NPC1 | c.2084T>G (p.Leu695Arg) n.1998T>G c.1162T>G c.2135T>G (p.Leu712Arg) c.1670T>G (p.Leu557Arg) | |
18 | g.23544390A>G | CA401771341 | NPC1 | c.2084T>C (p.Leu695Pro) n.1998T>C c.1162T>C c.2135T>C (p.Leu712Pro) c.1670T>C (p.Leu557Pro) | gnomAD v4 |
18 | g.23544390A>T | CA401771340 | NPC1 | c.2084T>A (p.Leu695Gln) n.1998T>A c.1162T>A c.2135T>A (p.Leu712Gln) c.1670T>A (p.Leu557Gln) | |
18 | g.23544391G>A | CA503324682 | NPC1 | c.2083C>T (p.Leu695=) n.1997C>T c.1161C>T c.2134C>T (p.Leu712=) c.1669C>T (p.Leu557=) | ClinVar |
18 | g.23544391G>C | CA8913230 | NPC1 | c.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 |
18 | g.23544391G= | CA2290168058 | NPC1 | c.2083C= (p.Leu695=) n.1997C= c.1161C= c.2134C= (p.Leu712=) c.1669C= (p.Leu557=) | |
18 | g.23544391G>T | CA401771343 | NPC1 | c.2083C>A (p.Leu695Met) n.1997C>A c.1161C>A c.2134C>A (p.Leu712Met) c.1669C>A (p.Leu557Met) | |
18 | g.23544392C>A | CA503324683 | NPC1 | c.2082G>T (p.Val694=) n.1996G>T c.1160G>T c.2133G>T (p.Val711=) c.1668G>T (p.Val556=) | |
18 | g.23544392C>G | CA503324684 | NPC1 | c.2082G>C (p.Val694=) n.1996G>C c.1160G>C c.2133G>C (p.Val711=) c.1668G>C (p.Val556=) | |
18 | g.23544392C>T | CA503324685 | NPC1 | c.2082G>A (p.Val694=) n.1996G>A c.1160G>A c.2133G>A (p.Val711=) c.1668G>A (p.Val556=) | |
18 | g.23544393A>C | CA401771344 | NPC1 | c.2081T>G (p.Val694Gly) n.1995T>G c.1159T>G c.2132T>G (p.Val711Gly) c.1667T>G (p.Val556Gly) | |
18 | g.23544393A>G | CA401771345 | NPC1 | c.2081T>C (p.Val694Ala) n.1995T>C c.1159T>C c.2132T>C (p.Val711Ala) c.1667T>C (p.Val556Ala) | |
18 | g.23544393A>T | CA401771346 | NPC1 | c.2081T>A (p.Val694Glu) n.1995T>A c.1159T>A c.2132T>A (p.Val711Glu) c.1667T>A (p.Val556Glu) | |
18 | g.23544394C>A | CA401771347 | NPC1 | c.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 |
18 | g.23544394C= | CA2290168059 | NPC1 | c.2080G= (p.Val694=) n.1994G= c.1158G= c.2131G= (p.Val711=) c.1666G= (p.Val556=) | |
18 | g.23544394C>G | CA401771348 | NPC1 | c.2080G>C (p.Val694Leu) n.1994G>C c.1158G>C c.2131G>C (p.Val711Leu) c.1666G>C (p.Val556Leu) | |
18 | g.23544394C>T | CA401771349 | NPC1 | c.2080G>A (p.Val694Met) n.1994G>A c.1158G>A c.2131G>A (p.Val711Met) c.1666G>A (p.Val556Met) | gnomAD v4 |
18 | g.23544395C>A | CA503324686 | NPC1 | c.2079G>T (p.Leu693=) n.1993G>T c.1157G>T c.2130G>T (p.Leu710=) c.1665G>T (p.Leu555=) | |
18 | g.23544395C= | CA2290168060 | NPC1 | c.2079G= (p.Leu693=) n.1993G= c.1157G= c.2130G= (p.Leu710=) c.1665G= (p.Leu555=) | |
18 | g.23544395C>G | CA503324687 | NPC1 | c.2079G>C (p.Leu693=) n.1993G>C c.1157G>C c.2130G>C (p.Leu710=) c.1665G>C (p.Leu555=) | |
18 | g.23544395C>T | CA503324688 | NPC1 | c.2079G>A (p.Leu693=) n.1993G>A c.1157G>A c.2130G>A (p.Leu710=) c.1665G>A (p.Leu555=) | ClinVar dbSNP |
18 | g.23544396A>C | CA401771350 | NPC1 | c.2078T>G (p.Leu693Arg) n.1992T>G c.1156T>G c.2129T>G (p.Leu710Arg) c.1664T>G (p.Leu555Arg) | |
18 | g.23544396A>G | CA401771351 | NPC1 | c.2078T>C (p.Leu693Pro) n.1992T>C c.1156T>C c.2129T>C (p.Leu710Pro) c.1664T>C (p.Leu555Pro) | |
18 | g.23544396A>T | CA401771352 | NPC1 | c.2078T>A (p.Leu693Gln) n.1992T>A c.1156T>A c.2129T>A (p.Leu710Gln) c.1664T>A (p.Leu555Gln) | |
18 | g.23544397G>A | CA503324689 | NPC1 | c.2077C>T (p.Leu693=) n.1991C>T c.1155C>T c.2128C>T (p.Leu710=) c.1663C>T (p.Leu555=) | |
18 | g.23544397G>C | CA401771353 | NPC1 | c.2077C>G (p.Leu693Val) n.1991C>G c.1155C>G c.2128C>G (p.Leu710Val) c.1663C>G (p.Leu555Val) | gnomAD v4 |
18 | g.23544397G>T | CA401771354 | NPC1 | c.2077C>A (p.Leu693Met) n.1991C>A c.1155C>A c.2128C>A (p.Leu710Met) c.1663C>A (p.Leu555Met) | |
18 | g.23544398del | CA2580095608 | NPC1 | c.2077del (p.Leu693TrpfsTer?) n.1991del c.1155del c.2128del (p.Leu710TrpfsTer?) c.1663del (p.Leu555TrpfsTer?) | ClinVar |
18 | g.23544398G>A | CA503324690 | NPC1 | c.2076C>T (p.Phe692=) n.1990C>T c.1154C>T c.2127C>T (p.Phe709=) c.1662C>T (p.Phe554=) | |
18 | g.23544398G>C | CA401771355 | NPC1 | c.2076C>G (p.Phe692Leu) n.1990C>G c.1154C>G c.2127C>G (p.Phe709Leu) c.1662C>G (p.Phe554Leu) | |
18 | g.23544398G>T | CA401771356 | NPC1 | c.2076C>A (p.Phe692Leu) n.1990C>A c.1154C>A c.2127C>A (p.Phe709Leu) c.1662C>A (p.Phe554Leu) | gnomAD v4 |
18 | g.23544399A>C | CA401771359 | NPC1 | c.2075T>G (p.Phe692Cys) n.1989T>G c.1153T>G c.2126T>G (p.Phe709Cys) c.1661T>G (p.Phe554Cys) | |
18 | g.23544399A>G | CA401771358 | NPC1 | c.2075T>C (p.Phe692Ser) n.1989T>C c.1153T>C c.2126T>C (p.Phe709Ser) c.1661T>C (p.Phe554Ser) | gnomAD v4 |
18 | g.23544399A>T | CA401771357 | NPC1 | c.2075T>A (p.Phe692Tyr) n.1989T>A c.1153T>A c.2126T>A (p.Phe709Tyr) c.1661T>A (p.Phe554Tyr) | |
18 | g.23544400del | CA2695227324 | NPC1 | c.2075del (p.Phe692SerfsTer?) n.1989del c.1153del c.2126del (p.Phe709SerfsTer?) c.1661del (p.Phe554SerfsTer?) | |
18 | g.23544400A>C | CA401771360 | NPC1 | c.2074T>G (p.Phe692Val) n.1988T>G c.1152T>G c.2125T>G (p.Phe709Val) c.1660T>G (p.Phe554Val) | |
18 | g.23544400A>G | CA401771361 | NPC1 | c.2074T>C (p.Phe692Leu) n.1988T>C c.1152T>C c.2125T>C (p.Phe709Leu) c.1660T>C (p.Phe554Leu) | |
18 | g.23544400A>T | CA401771362 | NPC1 | c.2074T>A (p.Phe692Ile) n.1988T>A c.1152T>A c.2125T>A (p.Phe709Ile) c.1660T>A (p.Phe554Ile) | |
18 | g.23544401C>A | CA503324691 | NPC1 | c.2073G>T (p.Pro691=) n.1987G>T c.1151G>T c.2124G>T (p.Pro708=) c.1659G>T (p.Pro553=) | |
18 | g.23544401C= | CA2290168061 | NPC1 | c.2073G= (p.Pro691=) n.1987G= c.1151G= c.2124G= (p.Pro708=) c.1659G= (p.Pro553=) | |
18 | g.23544401C>G | CA503324692 | NPC1 | c.2073G>C (p.Pro691=) n.1987G>C c.1151G>C c.2124G>C (p.Pro708=) c.1659G>C (p.Pro553=) | |
18 | g.23544401C>T | CA200998 | NPC1 | c.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 |
18 | g.23544402G>A | CA401771363 | NPC1 | c.2072C>T (p.Pro691Leu) n.1986C>T c.1150C>T c.2123C>T (p.Pro708Leu) c.1658C>T (p.Pro553Leu) | ClinVar dbSNP gnomAD v4 |
18 | g.23544402G>C | CA401771364 | NPC1 | c.2072C>G (p.Pro691Arg) n.1986C>G c.1150C>G c.2123C>G (p.Pro708Arg) c.1658C>G (p.Pro553Arg) | |
18 | g.23544402G= | CA2290168062 | NPC1 | c.2072C= (p.Pro691=) n.1986C= c.1150C= c.2123C= (p.Pro708=) c.1658C= (p.Pro553=) | |
18 | g.23544402G>T | CA401771365 | NPC1 | c.2072C>A (p.Pro691Gln) n.1986C>A c.1150C>A c.2123C>A (p.Pro708Gln) c.1658C>A (p.Pro553Gln) | ClinVar dbSNP gnomAD v4 |
18 | g.23544404dup | CA2582342333 | NPC1 | c.2072dup (p.Phe692ValfsTer22) n.1986dup c.1150dup c.2123dup (p.Phe709ValfsTer22) c.1658dup (p.Phe554ValfsTer22) | ClinVar |
18 | g.23544402_23544405dup | CA2576470974 | NPC1 | c.2069_2072dup (p.Phe692ProfsTer23) n.1983_1986dup c.1147_1150dup c.2120_2123dup (p.Phe709ProfsTer23) c.1655_1658dup (p.Phe554ProfsTer23) | gnomAD v4 |
18 | g.23544403G>A | CA401771366 | NPC1 | c.2071C>T (p.Pro691Ser) n.1985C>T c.1149C>T c.2122C>T (p.Pro708Ser) c.1657C>T (p.Pro553Ser) | |
18 | g.23544403G>C | CA401771367 | NPC1 | c.2071C>G (p.Pro691Ala) n.1985C>G c.1149C>G c.2122C>G (p.Pro708Ala) c.1657C>G (p.Pro553Ala) | ClinVar dbSNP gnomAD v4 |
18 | g.23544403G= | CA2290168063 | NPC1 | c.2071C= (p.Pro691=) n.1985C= c.1149C= c.2122C= (p.Pro708=) c.1657C= (p.Pro553=) | |
18 | g.23544403G>T | CA401771368 | NPC1 | c.2071C>A (p.Pro691Thr) n.1985C>A c.1149C>A c.2122C>A (p.Pro708Thr) c.1657C>A (p.Pro553Thr) | |
18 | g.23544404G>A | CA503324694 | NPC1 | c.2070C>T (p.Ile690=) n.1984C>T c.1148C>T c.2121C>T (p.Ile707=) c.1656C>T (p.Ile552=) | gnomAD v4 |
18 | g.23544404G>C | CA8913231 | NPC1 | c.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 |
18 | g.23544404G= | CA2290168064 | NPC1 | c.2070C= (p.Ile690=) n.1984C= c.1148C= c.2121C= (p.Ile707=) c.1656C= (p.Ile552=) | |
18 | g.23544404G>T | CA503324693 | NPC1 | c.2070C>A (p.Ile690=) n.1984C>A c.1148C>A c.2121C>A (p.Ile707=) c.1656C>A (p.Ile552=) | |
18 | g.23544405A>C | CA401771369 | NPC1 | c.2069T>G (p.Ile690Ser) n.1983T>G c.1147T>G c.2120T>G (p.Ile707Ser) c.1655T>G (p.Ile552Ser) | |
18 | g.23544405A>G | CA401771370 | NPC1 | c.2069T>C (p.Ile690Thr) n.1983T>C c.1147T>C c.2120T>C (p.Ile707Thr) c.1655T>C (p.Ile552Thr) | |
18 | g.23544405A>T | CA401771371 | NPC1 | c.2069T>A (p.Ile690Asn) n.1983T>A c.1147T>A c.2120T>A (p.Ile707Asn) c.1655T>A (p.Ile552Asn) | |
18 | g.23544406T>A | CA401771373 | NPC1 | c.2068A>T (p.Ile690Phe) n.1982A>T c.1146A>T c.2119A>T (p.Ile707Phe) c.1654A>T (p.Ile552Phe) | gnomAD v4 |
18 | g.23544406T>C | CA401771374 | NPC1 | c.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 |
18 | g.23544406T>G | CA401771372 | NPC1 | c.2068A>C (p.Ile690Leu) n.1982A>C c.1146A>C c.2119A>C (p.Ile707Leu) c.1654A>C (p.Ile552Leu) | gnomAD v4 |
18 | g.23544406T= | CA2290168065 | NPC1 | c.2068A= (p.Ile690=) n.1982A= c.1146A= c.2119A= (p.Ile707=) c.1654A= (p.Ile552=) | |
18 | g.23544407G>A | CA503324697 | NPC1 | c.2067C>T (p.Val689=) n.1981C>T c.1145C>T c.2118C>T (p.Val706=) c.1653C>T (p.Val551=) | COSMIC |
18 | g.23544407G>C | CA503324696 | NPC1 | c.2067C>G (p.Val689=) n.1981C>G c.1145C>G c.2118C>G (p.Val706=) c.1653C>G (p.Val551=) | gnomAD v4 |
18 | g.23544407G>T | CA503324695 | NPC1 | c.2067C>A (p.Val689=) n.1981C>A c.1145C>A c.2118C>A (p.Val706=) c.1653C>A (p.Val551=) | gnomAD v4 |
18 | g.23544408A>C | CA401771375 | NPC1 | c.2066T>G (p.Val689Gly) n.1980T>G c.1144T>G c.2117T>G (p.Val706Gly) c.1652T>G (p.Val551Gly) | |
18 | g.23544408A>G | CA401771376 | NPC1 | c.2066T>C (p.Val689Ala) n.1980T>C c.1144T>C c.2117T>C (p.Val706Ala) c.1652T>C (p.Val551Ala) | |
18 | g.23544408A>T | CA401771377 | NPC1 | c.2066T>A (p.Val689Asp) n.1980T>A c.1144T>A c.2117T>A (p.Val706Asp) c.1652T>A (p.Val551Asp) | |
18 | g.23544409C>A | CA401771378 | NPC1 | c.2065G>T (p.Val689Phe) n.1979G>T c.1143G>T c.2116G>T (p.Val706Phe) c.1651G>T (p.Val551Phe) | |
18 | g.23544409C>G | CA401771379 | NPC1 | c.2065G>C (p.Val689Leu) n.1979G>C c.1143G>C c.2116G>C (p.Val706Leu) c.1651G>C (p.Val551Leu) | |
18 | g.23544409C>T | CA401771380 | NPC1 | c.2065G>A (p.Val689Ile) n.1979G>A c.1143G>A c.2116G>A (p.Val706Ile) c.1651G>A (p.Val551Ile) | |
18 | g.23544410T>A | CA401771381 | NPC1 | c.2064A>T (p.Glu688Asp) n.1978A>T c.1142A>T c.2115A>T (p.Glu705Asp) c.1650A>T (p.Glu550Asp) | |
18 | g.23544410T>C | CA503324698 | NPC1 | c.2064A>G (p.Glu688=) n.1978A>G c.1142A>G c.2115A>G (p.Glu705=) c.1650A>G (p.Glu550=) | ClinVar |
18 | g.23544410T>G | CA401771382 | NPC1 | c.2064A>C (p.Glu688Asp) n.1978A>C c.1142A>C c.2115A>C (p.Glu705Asp) c.1650A>C (p.Glu550Asp) | gnomAD v4 COSMIC |
18 | g.23544411T>A | CA401771383 | NPC1 | c.2063A>T (p.Glu688Val) n.1977A>T c.1141A>T c.2114A>T (p.Glu705Val) c.1649A>T (p.Glu550Val) | |
18 | g.23544411T>C | CA401771384 | NPC1 | c.2063A>G (p.Glu688Gly) n.1977A>G c.1141A>G c.2114A>G (p.Glu705Gly) c.1649A>G (p.Glu550Gly) | |
18 | g.23544411T>G | CA401771385 | NPC1 | c.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 |
18 | g.23544411T= | CA2290168066 | NPC1 | c.2063A= (p.Glu688=) n.1977A= c.1141A= c.2114A= (p.Glu705=) c.1649A= (p.Glu550=) | |
18 | g.23544412C>A | CA401771388 | NPC1 | c.2062G>T (p.Glu688Ter) n.1976G>T c.1140G>T c.2113G>T (p.Glu705Ter) c.1648G>T (p.Glu550Ter) | |
18 | g.23544412C>G | CA401771387 | NPC1 | c.2062G>C (p.Glu688Gln) n.1976G>C c.1140G>C c.2113G>C (p.Glu705Gln) c.1648G>C (p.Glu550Gln) | |
18 | g.23544412C>T | CA401771386 | NPC1 | c.2062G>A (p.Glu688Lys) n.1976G>A c.1140G>A c.2113G>A (p.Glu705Lys) c.1648G>A (p.Glu550Lys) | |
18 | g.23544413A= | CA2290168067 | NPC1 | c.2061T= (p.Ile687=) n.1975T= c.1139T= c.2112T= (p.Ile704=) c.1647T= (p.Ile549=) | |
18 | g.23544413A>C | CA401771389 | NPC1 | c.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 |
18 | g.23544413A>G | CA503324699 | NPC1 | c.2061T>C (p.Ile687=) n.1975T>C c.1139T>C c.2112T>C (p.Ile704=) c.1647T>C (p.Ile549=) | ClinVar |
18 | g.23544413A>T | CA503324700 | NPC1 | c.2061T>A (p.Ile687=) n.1975T>A c.1139T>A c.2112T>A (p.Ile704=) c.1647T>A (p.Ile549=) | |
18 | g.23544414A>C | CA401771390 | NPC1 | c.2060T>G (p.Ile687Ser) n.1974T>G c.1138T>G c.2111T>G (p.Ile704Ser) c.1646T>G (p.Ile549Ser) | |
18 | g.23544414A>G | CA401771391 | NPC1 | c.2060T>C (p.Ile687Thr) n.1974T>C c.1138T>C c.2111T>C (p.Ile704Thr) c.1646T>C (p.Ile549Thr) | |
18 | g.23544414A>T | CA401771392 | NPC1 | c.2060T>A (p.Ile687Asn) n.1974T>A c.1138T>A c.2111T>A (p.Ile704Asn) c.1646T>A (p.Ile549Asn) | |
18 | g.23544415T>A | CA401771393 | NPC1 | c.2059A>T (p.Ile687Phe) n.1973A>T c.1137A>T c.2110A>T (p.Ile704Phe) c.1645A>T (p.Ile549Phe) | |
18 | g.23544415T>C | CA401771394 | NPC1 | c.2059A>G (p.Ile687Val) n.1973A>G c.1137A>G c.2110A>G (p.Ile704Val) c.1645A>G (p.Ile549Val) | ClinVar dbSNP |
18 | g.23544415T>G | CA401771395 | NPC1 | c.2059A>C (p.Ile687Leu) n.1973A>C c.1137A>C c.2110A>C (p.Ile704Leu) c.1645A>C (p.Ile549Leu) | |
18 | g.23544415T= | CA2290168068 | NPC1 | c.2059A= (p.Ile687=) n.1973A= c.1137A= c.2110A= (p.Ile704=) c.1645A= (p.Ile549=) | |
18 | g.23544416C>A | CA503324701 | NPC1 | c.2058G>T (p.Val686=) n.1972G>T c.1136G>T c.2109G>T (p.Val703=) c.1644G>T (p.Val548=) | |
18 | g.23544416C>G | CA503324702 | NPC1 | c.2058G>C (p.Val686=) n.1972G>C c.1136G>C c.2109G>C (p.Val703=) c.1644G>C (p.Val548=) | |
18 | g.23544416C>T | CA503324703 | NPC1 | c.2058G>A (p.Val686=) n.1972G>A c.1136G>A c.2109G>A (p.Val703=) c.1644G>A (p.Val548=) | |
18 | g.23544417A= | CA2290168069 | NPC1 | c.2057T= (p.Val686=) n.1971T= c.1135T= c.2108T= (p.Val703=) c.1643T= (p.Val548=) | |
18 | g.23544417A>C | CA401771396 | NPC1 | c.2057T>G (p.Val686Gly) n.1971T>G c.1135T>G c.2108T>G (p.Val703Gly) c.1643T>G (p.Val548Gly) | |
18 | g.23544417A>G | CA401771397 | NPC1 | c.2057T>C (p.Val686Ala) n.1971T>C c.1135T>C c.2108T>C (p.Val703Ala) c.1643T>C (p.Val548Ala) | dbSNP gnomAD v4 |
18 | g.23544417A>T | CA401771398 | NPC1 | c.2057T>A (p.Val686Glu) n.1971T>A c.1135T>A c.2108T>A (p.Val703Glu) c.1643T>A (p.Val548Glu) | |
18 | g.23544418C>A | CA401771399 | NPC1 | c.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 |
18 | g.23544418C= | CA2290168070 | NPC1 | c.2056G= (p.Val686=) n.1970G= c.1134G= c.2107G= (p.Val703=) c.1642G= (p.Val548=) | |
18 | g.23544418C>G | CA401771400 | NPC1 | c.2056G>C (p.Val686Leu) n.1970G>C c.1134G>C c.2107G>C (p.Val703Leu) c.1642G>C (p.Val548Leu) | |
18 | g.23544418C>T | CA401771401 | NPC1 | c.2056G>A (p.Val686Met) n.1970G>A c.1134G>A c.2107G>A (p.Val703Met) c.1642G>A (p.Val548Met) | dbSNP |
18 | g.23544419A= | CA2290168071 | NPC1 | c.2055T= (p.Ile685=) n.1969T= c.1133T= c.2106T= (p.Ile702=) c.1641T= (p.Ile547=) | |
18 | g.23544419A>C | CA401771402 | NPC1 | c.2055T>G (p.Ile685Met) n.1969T>G c.1133T>G c.2106T>G (p.Ile702Met) c.1641T>G (p.Ile547Met) | |
18 | g.23544419A>G | CA8913232 | NPC1 | c.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 |
18 | g.23544419A>T | CA503324704 | NPC1 | c.2055T>A (p.Ile685=) n.1969T>A c.1133T>A c.2106T>A (p.Ile702=) c.1641T>A (p.Ile547=) | |
18 | g.23544420A= | CA2290168072 | NPC1 | c.2054T= (p.Ile685=) n.1968T= c.1132T= c.2105T= (p.Ile702=) c.1640T= (p.Ile547=) | |
18 | g.23544420A>C | CA401771403 | NPC1 | c.2054T>G (p.Ile685Ser) n.1968T>G c.1132T>G c.2105T>G (p.Ile702Ser) c.1640T>G (p.Ile547Ser) | |
18 | g.23544420A>G | CA269823 | NPC1 | c.2054T>C (p.Ile685Thr) n.1968T>C c.1132T>C c.2105T>C (p.Ile702Thr) c.1640T>C (p.Ile547Thr) | ClinVar dbSNP gnomAD v4 |
18 | g.23544420A>T | CA401771404 | NPC1 | c.2054T>A (p.Ile685Asn) n.1968T>A c.1132T>A c.2105T>A (p.Ile702Asn) c.1640T>A (p.Ile547Asn) | gnomAD v4 |
18 | g.23544421T>A | CA401771405 | NPC1 | c.2053A>T (p.Ile685Phe) n.1967A>T c.1131A>T c.2104A>T (p.Ile702Phe) c.1639A>T (p.Ile547Phe) | |
18 | g.23544421T>C | CA401771406 | NPC1 | c.2053A>G (p.Ile685Val) n.1967A>G c.1131A>G c.2104A>G (p.Ile702Val) c.1639A>G (p.Ile547Val) | ClinVar dbSNP |
18 | g.23544421T>G | CA401771407 | NPC1 | c.2053A>C (p.Ile685Leu) n.1967A>C c.1131A>C c.2104A>C (p.Ile702Leu) c.1639A>C (p.Ile547Leu) | ClinVar |
18 | g.23544421T= | CA2290168073 | NPC1 | c.2053A= (p.Ile685=) n.1967A= c.1131A= c.2104A= (p.Ile702=) c.1639A= (p.Ile547=) | |
18 | g.23544422G>A | CA503324705 | NPC1 | c.2052C>T (p.Leu684=) n.1966C>T c.1130C>T c.2103C>T (p.Leu701=) c.1638C>T (p.Leu546=) | ClinVar dbSNP |
18 | g.23544422G>C | CA503324706 | NPC1 | c.2052C>G (p.Leu684=) n.1966C>G c.1130C>G c.2103C>G (p.Leu701=) c.1638C>G (p.Leu546=) | |
18 | g.23544422G>T | CA503324707 | NPC1 | c.2052C>A (p.Leu684=) n.1966C>A c.1130C>A c.2103C>A (p.Leu701=) c.1638C>A (p.Leu546=) | |
18 | g.23544423A>C | CA401771408 | NPC1 | c.2051T>G (p.Leu684Arg) n.1965T>G c.1129T>G c.2102T>G (p.Leu701Arg) c.1637T>G (p.Leu546Arg) | gnomAD v4 |
18 | g.23544423A>G | CA401771409 | NPC1 | c.2051T>C (p.Leu684Pro) n.1965T>C c.1129T>C c.2102T>C (p.Leu701Pro) c.1637T>C (p.Leu546Pro) | |
18 | g.23544423A>T | CA401771410 | NPC1 | c.2051T>A (p.Leu684His) n.1965T>A c.1129T>A c.2102T>A (p.Leu701His) c.1637T>A (p.Leu546His) | |
18 | g.23544424G>A | CA16043539 | NPC1 | c.2050C>T (p.Leu684Phe) n.1964C>T c.1128C>T c.2101C>T (p.Leu701Phe) c.1636C>T (p.Leu546Phe) | ClinVar dbSNP |
18 | g.23544424G>C | CA401771411 | NPC1 | c.2050C>G (p.Leu684Val) n.1964C>G c.1128C>G c.2101C>G (p.Leu701Val) c.1636C>G (p.Leu546Val) | |
18 | g.23544424G= | CA2290168074 | NPC1 | c.2050C= (p.Leu684=) n.1964C= c.1128C= c.2101C= (p.Leu701=) c.1636C= (p.Leu546=) | |
18 | g.23544424G>T | CA401771412 | NPC1 | c.2050C>A (p.Leu684Ile) n.1964C>A c.1128C>A c.2101C>A (p.Leu701Ile) c.1636C>A (p.Leu546Ile) | |
18 | g.23544426del | CA2811804836 | NPC1 | c.2050del (p.Leu684SerfsTer3) n.1964del c.1128del c.2101del (p.Leu701SerfsTer3) c.1636del (p.Leu546SerfsTer3) | |
18 | g.23544425G>A | CA503324710 | NPC1 | c.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 |
18 | g.23544425G>C | CA503324709 | NPC1 | c.2049C>G (p.Thr683=) n.1963C>G c.1127C>G c.2100C>G (p.Thr700=) c.1635C>G (p.Thr545=) | |
18 | g.23544425G= | CA2290168075 | NPC1 | c.2049C= (p.Thr683=) n.1963C= c.1127C= c.2100C= (p.Thr700=) c.1635C= (p.Thr545=) | |
18 | g.23544425G>T | CA503324708 | NPC1 | c.2049C>A (p.Thr683=) n.1963C>A c.1127C>A c.2100C>A (p.Thr700=) c.1635C>A (p.Thr545=) | |
18 | g.23544425_23544427dup | CA988383288 | NPC1 | c.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 |
18 | g.23544426G>A | CA401771413 | NPC1 | c.2048C>T (p.Thr683Ile) n.1962C>T c.1126C>T c.2099C>T (p.Thr700Ile) c.1634C>T (p.Thr545Ile) | |
18 | g.23544426G>C | CA401771414 | NPC1 | c.2048C>G (p.Thr683Ser) n.1962C>G c.1126C>G c.2099C>G (p.Thr700Ser) c.1634C>G (p.Thr545Ser) | |
18 | g.23544426G>T | CA401771415 | NPC1 | c.2048C>A (p.Thr683Asn) n.1962C>A c.1126C>A c.2099C>A (p.Thr700Asn) c.1634C>A (p.Thr545Asn) | |
18 | g.23544426_23544428del | CA2695227326 | NPC1 | c.2046_2048del (p.Leu682_Thr683delinsPhe) n.1960_1962del c.1124_1126del c.2097_2099del (p.Leu699_Thr700delinsPhe) c.1632_1634del (p.Leu544_Thr545delinsPhe) | |
18 | g.23544426_23544429delinsT | CA2695227325 | NPC1 | c.2045_2048delinsA (p.Leu682_Thr683delinsTyr) n.1959_1962delinsA c.1123_1126delinsA c.2096_2099delinsA (p.Leu699_Thr700delinsTyr) c.1631_1634delinsA (p.Leu544_Thr545delinsTyr) | |
18 | g.23544427T>A | CA401771418 | NPC1 | c.2047A>T (p.Thr683Ser) n.1961A>T c.1125A>T c.2098A>T (p.Thr700Ser) c.1633A>T (p.Thr545Ser) | |
18 | g.23544427T>C | CA401771416 | NPC1 | c.2047A>G (p.Thr683Ala) n.1961A>G c.1125A>G c.2098A>G (p.Thr700Ala) c.1633A>G (p.Thr545Ala) | |
18 | g.23544427T>G | CA401771417 | NPC1 | c.2047A>C (p.Thr683Pro) n.1961A>C c.1125A>C c.2098A>C (p.Thr700Pro) c.1633A>C (p.Thr545Pro) | |
18 | g.23544427_23544428del | CA2580095609 | NPC1 | c.2046_2047del (p.Leu682PhefsTer6) n.1960_1961del c.1124_1125del c.2097_2098del (p.Leu699PhefsTer6) c.1632_1633del (p.Leu544PhefsTer6) | ClinVar |
18 | g.23544428C>A | CA401771419 | NPC1 | c.2046G>T (p.Leu682Phe) n.1960G>T c.1124G>T c.2097G>T (p.Leu699Phe) c.1632G>T (p.Leu544Phe) | |
18 | g.23544428C= | CA2290168076 | NPC1 | c.2046G= (p.Leu682=) n.1960G= c.1124G= c.2097G= (p.Leu699=) c.1632G= (p.Leu544=) | |
18 | g.23544428C>G | CA401771420 | NPC1 | c.2046G>C (p.Leu682Phe) n.1960G>C c.1124G>C c.2097G>C (p.Leu699Phe) c.1632G>C (p.Leu544Phe) | |
18 | g.23544428C>T | CA503324711 | NPC1 | c.2046G>A (p.Leu682=) n.1960G>A c.1124G>A c.2097G>A (p.Leu699=) c.1632G>A (p.Leu544=) | ClinVar dbSNP |
18 | g.23544428_23544429del | CA2811804840 | NPC1 | c.2045_2046del (p.Leu682TyrfsTer6) n.1959_1960del c.1123_1124del c.2096_2097del (p.Leu699TyrfsTer6) c.1631_1632del (p.Leu544TyrfsTer6) | |
18 | g.23544429A= | CA2290168077 | NPC1 | c.2045T= (p.Leu682=) n.1959T= c.1123T= c.2096T= (p.Leu699=) c.1631T= (p.Leu544=) | |
18 | g.23544429A>C | CA401771421 | NPC1 | c.2045T>G (p.Leu682Trp) n.1959T>G c.1123T>G c.2096T>G (p.Leu699Trp) c.1631T>G (p.Leu544Trp) | dbSNP gnomAD v4 |
18 | g.23544429A>G | CA401771422 | NPC1 | c.2045T>C (p.Leu682Ser) n.1959T>C c.1123T>C c.2096T>C (p.Leu699Ser) c.1631T>C (p.Leu544Ser) | |
18 | g.23544429A>T | CA401771423 | NPC1 | c.2045T>A (p.Leu682Ter) n.1959T>A c.1123T>A c.2096T>A (p.Leu699Ter) c.1631T>A (p.Leu544Ter) | |
18 | g.23544429_23544430insCAGATGTGTATGAC | CA2580095610 | NPC1 | c.2044_2045insGTCATACACATCTG (p.Leu682CysfsTer6) n.1958_1959insGTCATACACATCTG c.1122_1123insGTCATACACATCTG c.2095_2096insGTCATACACATCTG (p.Leu699CysfsTer6) c.1630_1631insGTCATACACATCTG (p.Leu544CysfsTer6) | ClinVar |
18 | g.23544430A= | CA2290168078 | NPC1 | c.2044T= (p.Leu682=) n.1958T= c.1122T= c.2095T= (p.Leu699=) c.1630T= (p.Leu544=) | |
18 | g.23544430A>C | CA401771424 | NPC1 | c.2044T>G (p.Leu682Val) n.1958T>G c.1122T>G c.2095T>G (p.Leu699Val) c.1630T>G (p.Leu544Val) | |
18 | g.23544430A>G | CA503324712 | NPC1 | c.2044T>C (p.Leu682=) n.1958T>C c.1122T>C c.2095T>C (p.Leu699=) c.1630T>C (p.Leu544=) | |
18 | g.23544430A>T | CA401771425 | NPC1 | c.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 |
18 | g.23544431G>A | CA503324713 | NPC1 | c.2043C>T (p.Pro681=) n.1957C>T c.1121C>T c.2094C>T (p.Pro698=) c.1629C>T (p.Pro543=) | |
18 | g.23544431G>C | CA8913233 | NPC1 | c.2043C>G (p.Pro681=) n.1957C>G c.1121C>G c.2094C>G (p.Pro698=) c.1629C>G (p.Pro543=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23544431G= | CA2290168079 | NPC1 | c.2043C= (p.Pro681=) n.1957C= c.1121C= c.2094C= (p.Pro698=) c.1629C= (p.Pro543=) | |
18 | g.23544431G>T | CA503324714 | NPC1 | c.2043C>A (p.Pro681=) n.1957C>A c.1121C>A c.2094C>A (p.Pro698=) c.1629C>A (p.Pro543=) | |
18 | g.23544432G>A | CA401771426 | NPC1 | c.2042C>T (p.Pro681Leu) n.1956C>T c.1120C>T c.2093C>T (p.Pro698Leu) c.1628C>T (p.Pro543Leu) | gnomAD v4 |
18 | g.23544432G>C | CA401771427 | NPC1 | c.2042C>G (p.Pro681Arg) n.1956C>G c.1120C>G c.2093C>G (p.Pro698Arg) c.1628C>G (p.Pro543Arg) | |
18 | g.23544432G>T | CA401771428 | NPC1 | c.2042C>A (p.Pro681His) n.1956C>A c.1120C>A c.2093C>A (p.Pro698His) c.1628C>A (p.Pro543His) | |
18 | g.23544433G>A | CA8913234 | NPC1 | c.2041C>T (p.Pro681Ser) n.1955C>T c.1119C>T c.2092C>T (p.Pro698Ser) c.1627C>T (p.Pro543Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.23544433G>C | CA401771430 | NPC1 | c.2041C>G (p.Pro681Ala) n.1955C>G c.1119C>G c.2092C>G (p.Pro698Ala) c.1627C>G (p.Pro543Ala) | |
18 | g.23544433G= | CA2290168080 | NPC1 | c.2041C= (p.Pro681=) n.1955C= c.1119C= c.2092C= (p.Pro698=) c.1627C= (p.Pro543=) | |
18 | g.23544433G>T | CA401771429 | NPC1 | c.2041C>A (p.Pro681Thr) n.1955C>A c.1119C>A c.2092C>A (p.Pro698Thr) c.1627C>A (p.Pro543Thr) | |
18 | g.23544434C>A | CA401771432 | NPC1 | c.2040G>T (p.Leu680Phe) n.1954G>T c.1118G>T c.2091G>T (p.Leu697Phe) c.1626G>T (p.Leu542Phe) | gnomAD v4 |
18 | g.23544434C>G | CA401771431 | NPC1 | c.2040G>C (p.Leu680Phe) n.1954G>C c.1118G>C c.2091G>C (p.Leu697Phe) c.1626G>C (p.Leu542Phe) | |
18 | g.23544434C>T | CA503324715 | NPC1 | c.2040G>A (p.Leu680=) n.1954G>A c.1118G>A c.2091G>A (p.Leu697=) c.1626G>A (p.Leu542=) | |
18 | g.23544435A>C | CA401771433 | NPC1 | c.2039T>G (p.Leu680Trp) n.1953T>G c.1117T>G c.2090T>G (p.Leu697Trp) c.1625T>G (p.Leu542Trp) | |
18 | g.23544435A>G | CA401771434 | NPC1 | c.2039T>C (p.Leu680Ser) n.1953T>C c.1117T>C c.2090T>C (p.Leu697Ser) c.1625T>C (p.Leu542Ser) | |
18 | g.23544435A>T | CA401771435 | NPC1 | c.2039T>A (p.Leu680Ter) n.1953T>A c.1117T>A c.2090T>A (p.Leu697Ter) c.1625T>A (p.Leu542Ter) | |
18 | g.23544436dup | CA2573155270 | NPC1 | c.2039dup (p.Leu680PhefsTer9) n.1953dup c.1117dup c.2090dup (p.Leu697PhefsTer9) c.1625dup (p.Leu542PhefsTer9) | ClinVar dbSNP gnomAD v4 |