| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23544960_23545032del | CA2695227328 | NPC1 | c.1875_1947del (p.Ile626TrpfsTer7) n.1789_1861del c.953_1025del c.1926_1998del (p.Ile643TrpfsTer7) c.1461_1533del (p.Ile488TrpfsTer7) | |
| 18 | g.23544961_23544965del | CA2641278428 | NPC1 | c.1942_1946del (p.Leu648GlyfsTer?) n.1856_1860del c.1020_1024del c.1993_1997del (p.Leu665GlyfsTer?) c.1528_1532del (p.Leu510GlyfsTer?) | gnomAD v4 |
| 18 | g.23544962del | CA2641278429 | NPC1 | c.1945del (p.Leu649TrpfsTer8) n.1859del c.1023del c.1996del (p.Leu666TrpfsTer8) c.1531del (p.Leu511TrpfsTer8) | gnomAD v4 |
| 18 | g.23544962G>A | CA8913340 | NPC1 | c.1945C>T (p.Leu649=) n.1859C>T c.1023C>T c.1996C>T (p.Leu666=) c.1531C>T (p.Leu511=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23544962G>C | CA401772137 | NPC1 | c.1945C>G (p.Leu649Val) n.1859C>G c.1023C>G c.1996C>G (p.Leu666Val) c.1531C>G (p.Leu511Val) | gnomAD v4 |
| 18 | g.23544962G= | CA2290168357 | NPC1 | c.1945C= (p.Leu649=) n.1859C= c.1023C= c.1996C= (p.Leu666=) c.1531C= (p.Leu511=) | |
| 18 | g.23544962G>T | CA401772138 | NPC1 | c.1945C>A (p.Leu649Met) n.1859C>A c.1023C>A c.1996C>A (p.Leu666Met) c.1531C>A (p.Leu511Met) | gnomAD v4 |
| 18 | g.23544963A>C | CA503521873 | NPC1 | c.1944T>G (p.Leu648=) n.1858T>G c.1022T>G c.1995T>G (p.Leu665=) c.1530T>G (p.Leu510=) | gnomAD v4 |
| 18 | g.23544963A>G | CA503521875 | NPC1 | c.1944T>C (p.Leu648=) n.1858T>C c.1022T>C c.1995T>C (p.Leu665=) c.1530T>C (p.Leu510=) | gnomAD v4 |
| 18 | g.23544963A>T | CA503521876 | NPC1 | c.1944T>A (p.Leu648=) n.1858T>A c.1022T>A c.1995T>A (p.Leu665=) c.1530T>A (p.Leu510=) | gnomAD v4 |
| 18 | g.23544964A= | CA2290168358 | NPC1 | c.1943T= (p.Leu648=) n.1857T= c.1021T= c.1994T= (p.Leu665=) c.1529T= (p.Leu510=) | |
| 18 | g.23544964A>C | CA401772139 | NPC1 | c.1943T>G (p.Leu648Arg) n.1857T>G c.1021T>G c.1994T>G (p.Leu665Arg) c.1529T>G (p.Leu510Arg) | |
| 18 | g.23544964A>G | CA8913341 | NPC1 | c.1943T>C (p.Leu648Pro) n.1857T>C c.1021T>C c.1994T>C (p.Leu665Pro) c.1529T>C (p.Leu510Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23544964A>T | CA401772140 | NPC1 | c.1943T>A (p.Leu648His) n.1857T>A c.1021T>A c.1994T>A (p.Leu665His) c.1529T>A (p.Leu510His) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23544965G>A | CA297060672 | NPC1 | c.1942C>T (p.Leu648Phe) n.1856C>T c.1020C>T c.1993C>T (p.Leu665Phe) c.1528C>T (p.Leu510Phe) | dbSNP gnomAD v4 |
| 18 | g.23544965G>C | CA401772141 | NPC1 | c.1942C>G (p.Leu648Val) n.1856C>G c.1020C>G c.1993C>G (p.Leu665Val) c.1528C>G (p.Leu510Val) | gnomAD v4 |
| 18 | g.23544965G= | CA2290168359 | NPC1 | c.1942C= (p.Leu648=) n.1856C= c.1020C= c.1993C= (p.Leu665=) c.1528C= (p.Leu510=) | |
| 18 | g.23544965G>T | CA401772142 | NPC1 | c.1942C>A (p.Leu648Ile) n.1856C>A c.1020C>A c.1993C>A (p.Leu665Ile) c.1528C>A (p.Leu510Ile) | gnomAD v4 |
| 18 | g.23544966C>A | CA401772143 | NPC1 | c.1941G>T (p.Arg647Ser) n.1855G>T c.1019G>T c.1992G>T (p.Arg664Ser) c.1527G>T (p.Arg509Ser) | gnomAD v4 |
| 18 | g.23544966C= | CA2290168360 | NPC1 | c.1941G= (p.Arg647=) n.1855G= c.1019G= c.1992G= (p.Arg664=) c.1527G= (p.Arg509=) | |
| 18 | g.23544966C>G | CA401772144 | NPC1 | c.1941G>C (p.Arg647Ser) n.1855G>C c.1019G>C c.1992G>C (p.Arg664Ser) c.1527G>C (p.Arg509Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23544966C>T | CA503521878 | NPC1 | c.1941G>A (p.Arg647=) n.1855G>A c.1019G>A c.1992G>A (p.Arg664=) c.1527G>A (p.Arg509=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23544967C>A | CA401772147 | NPC1 | c.1940G>T (p.Arg647Met) n.1854G>T c.1018G>T c.1991G>T (p.Arg664Met) c.1526G>T (p.Arg509Met) | |
| 18 | g.23544967C>G | CA401772145 | NPC1 | c.1940G>C (p.Arg647Thr) n.1854G>C c.1018G>C c.1991G>C (p.Arg664Thr) c.1526G>C (p.Arg509Thr) | |
| 18 | g.23544967C>T | CA401772146 | NPC1 | c.1940G>A (p.Arg647Lys) n.1854G>A c.1018G>A c.1991G>A (p.Arg664Lys) c.1526G>A (p.Arg509Lys) | gnomAD v4 |
| 18 | g.23544968T>A | CA401772148 | NPC1 | c.1939A>T (p.Arg647Trp) n.1853A>T c.1017A>T c.1990A>T (p.Arg664Trp) c.1525A>T (p.Arg509Trp) | gnomAD v4 |
| 18 | g.23544968T>C | CA401772149 | NPC1 | c.1939A>G (p.Arg647Gly) n.1853A>G c.1017A>G c.1990A>G (p.Arg664Gly) c.1525A>G (p.Arg509Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544968T>G | CA503521880 | NPC1 | c.1939A>C (p.Arg647=) n.1853A>C c.1017A>C c.1990A>C (p.Arg664=) c.1525A>C (p.Arg509=) | gnomAD v4 |
| 18 | g.23544968_23544975del | CA2641278430 | NPC1 | c.1932_1939del (p.Ser644ArgfsTer?) n.1846_1853del c.1010_1017del c.1983_1990del (p.Ser661ArgfsTer?) c.1518_1525del (p.Ser506ArgfsTer?) | gnomAD v4 |
| 18 | g.23544969del | CA2641278431 | NPC1 | c.1938del (p.Arg647GlyfsTer10) n.1852del c.1016del c.1989del (p.Arg664GlyfsTer10) c.1524del (p.Arg509GlyfsTer10) | gnomAD v4 |
| 18 | g.23544969G>A | CA8913342 | NPC1 | c.1938C>T (p.Arg646=) n.1852C>T c.1016C>T c.1989C>T (p.Arg663=) c.1524C>T (p.Arg508=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23544969G>C | CA503521881 | NPC1 | c.1938C>G (p.Arg646=) n.1852C>G c.1016C>G c.1989C>G (p.Arg663=) c.1524C>G (p.Arg508=) | gnomAD v4 |
| 18 | g.23544969G= | CA2290168361 | NPC1 | c.1938C= (p.Arg646=) n.1852C= c.1016C= c.1989C= (p.Arg663=) c.1524C= (p.Arg508=) | |
| 18 | g.23544969G>T | CA503521882 | NPC1 | c.1938C>A (p.Arg646=) n.1852C>A c.1016C>A c.1989C>A (p.Arg663=) c.1524C>A (p.Arg508=) | gnomAD v4 |
| 18 | g.23544970C>A | CA401772150 | NPC1 | c.1937G>T (p.Arg646Leu) n.1851G>T c.1015G>T c.1988G>T (p.Arg663Leu) c.1523G>T (p.Arg508Leu) | gnomAD v4 |
| 18 | g.23544970C= | CA2290168362 | NPC1 | c.1937G= (p.Arg646=) n.1851G= c.1015G= c.1988G= (p.Arg663=) c.1523G= (p.Arg508=) | |
| 18 | g.23544970C>G | CA401772151 | NPC1 | c.1937G>C (p.Arg646Pro) n.1851G>C c.1015G>C c.1988G>C (p.Arg663Pro) c.1523G>C (p.Arg508Pro) | |
| 18 | g.23544970C>T | CA297003 | NPC1 | c.1937G>A (p.Arg646His) n.1851G>A c.1015G>A c.1988G>A (p.Arg663His) c.1523G>A (p.Arg508His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23544970_23544971insCCCCCCCCCCGG | CA2641278432 | NPC1 | c.1936_1937insCCGGGGGGGGGG (p.Arg646delinsProGlyGlyGlyGly) n.1850_1851insCCGGGGGGGGGG c.1014_1015insCCGGGGGGGGGG c.1987_1988insCCGGGGGGGGGG (p.Arg663delinsProGlyGlyGlyGly) c.1522_1523insCCGGGGGGGGGG (p.Arg508delinsProGlyGlyGlyGly) | gnomAD v4 |
| 18 | g.23544971G>A | CA8913343 | NPC1 | c.1936C>T (p.Arg646Cys) n.1850C>T c.1014C>T c.1987C>T (p.Arg663Cys) c.1522C>T (p.Arg508Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23544971G>C | CA401772152 | NPC1 | c.1936C>G (p.Arg646Gly) n.1850C>G c.1014C>G c.1987C>G (p.Arg663Gly) c.1522C>G (p.Arg508Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544971G= | CA2290168363 | NPC1 | c.1936C= (p.Arg646=) n.1850C= c.1014C= c.1987C= (p.Arg663=) c.1522C= (p.Arg508=) | |
| 18 | g.23544971G>T | CA401772153 | NPC1 | c.1936C>A (p.Arg646Ser) n.1850C>A c.1014C>A c.1987C>A (p.Arg663Ser) c.1522C>A (p.Arg508Ser) | gnomAD v4 |
| 18 | g.23544972A>C | CA401772154 | NPC1 | c.1935T>G (p.Cys645Trp) n.1849T>G c.1013T>G c.1986T>G (p.Cys662Trp) c.1521T>G (p.Cys507Trp) | gnomAD v4 |
| 18 | g.23544972A>G | CA503521883 | NPC1 | c.1935T>C (p.Cys645=) n.1849T>C c.1013T>C c.1986T>C (p.Cys662=) c.1521T>C (p.Cys507=) | gnomAD v4 |
| 18 | g.23544972A>T | CA401772155 | NPC1 | c.1935T>A (p.Cys645Ter) n.1849T>A c.1013T>A c.1986T>A (p.Cys662Ter) c.1521T>A (p.Cys507Ter) | gnomAD v4 |
| 18 | g.23544973C>A | CA401772157 | NPC1 | c.1934G>T (p.Cys645Phe) n.1848G>T c.1012G>T c.1985G>T (p.Cys662Phe) c.1520G>T (p.Cys507Phe) | gnomAD v4 |
| 18 | g.23544973C>G | CA401772158 | NPC1 | c.1934G>C (p.Cys645Ser) n.1848G>C c.1012G>C c.1985G>C (p.Cys662Ser) c.1520G>C (p.Cys507Ser) | |
| 18 | g.23544973C>T | CA401772156 | NPC1 | c.1934G>A (p.Cys645Tyr) n.1848G>A c.1012G>A c.1985G>A (p.Cys662Tyr) c.1520G>A (p.Cys507Tyr) | gnomAD v4 |
| 18 | g.23544974A= | CA2290168364 | NPC1 | c.1933T= (p.Cys645=) n.1847T= c.1011T= c.1984T= (p.Cys662=) c.1519T= (p.Cys507=) | |
| 18 | g.23544974A>C | CA401772159 | NPC1 | c.1933T>G (p.Cys645Gly) n.1847T>G c.1011T>G c.1984T>G (p.Cys662Gly) c.1519T>G (p.Cys507Gly) | gnomAD v4 |
| 18 | g.23544974A>G | CA401772160 | NPC1 | c.1933T>C (p.Cys645Arg) n.1847T>C c.1011T>C c.1984T>C (p.Cys662Arg) c.1519T>C (p.Cys507Arg) | |
| 18 | g.23544974A>T | CA401772161 | NPC1 | c.1933T>A (p.Cys645Ser) n.1847T>A c.1011T>A c.1984T>A (p.Cys662Ser) c.1519T>A (p.Cys507Ser) | |
| 18 | g.23544975G>A | CA503521887 | NPC1 | c.1932C>T (p.Ser644=) n.1846C>T c.1010C>T c.1983C>T (p.Ser661=) c.1518C>T (p.Ser506=) | gnomAD v4 |
| 18 | g.23544975G>C | CA401772162 | NPC1 | c.1932C>G (p.Ser644Arg) n.1846C>G c.1010C>G c.1983C>G (p.Ser661Arg) c.1518C>G (p.Ser506Arg) | |
| 18 | g.23544975G>T | CA401772163 | NPC1 | c.1932C>A (p.Ser644Arg) n.1846C>A c.1010C>A c.1983C>A (p.Ser661Arg) c.1518C>A (p.Ser506Arg) | gnomAD v3 gnomAD v4 |
| 18 | g.23544975dup | CA628978833 | NPC1 | c.1932dup (p.Cys645LeufsTer?) n.1846dup c.1010dup c.1983dup (p.Cys662LeufsTer?) c.1518dup (p.Cys507LeufsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23544976C>A | CA401772164 | NPC1 | c.1931G>T (p.Ser644Ile) n.1845G>T c.1009G>T c.1982G>T (p.Ser661Ile) c.1517G>T (p.Ser506Ile) | |
| 18 | g.23544976C>G | CA401772165 | NPC1 | c.1931G>C (p.Ser644Thr) n.1845G>C c.1009G>C c.1982G>C (p.Ser661Thr) c.1517G>C (p.Ser506Thr) | gnomAD v4 |
| 18 | g.23544976C>T | CA401772166 | NPC1 | c.1931G>A (p.Ser644Asn) n.1845G>A c.1009G>A c.1982G>A (p.Ser661Asn) c.1517G>A (p.Ser506Asn) | |
| 18 | g.23544977T>A | CA401772167 | NPC1 | c.1930A>T (p.Ser644Cys) n.1844A>T c.1008A>T c.1981A>T (p.Ser661Cys) c.1516A>T (p.Ser506Cys) | |
| 18 | g.23544977T>C | CA401772168 | NPC1 | c.1930A>G (p.Ser644Gly) n.1844A>G c.1008A>G c.1981A>G (p.Ser661Gly) c.1516A>G (p.Ser506Gly) | gnomAD v3 gnomAD v4 |
| 18 | g.23544977T>G | CA401772169 | NPC1 | c.1930A>C (p.Ser644Arg) n.1844A>C c.1008A>C c.1981A>C (p.Ser661Arg) c.1516A>C (p.Ser506Arg) | gnomAD v4 |
| 18 | g.23544980del | CA2641278433 | NPC1 | c.1930del (p.Ser644AlafsTer13) n.1844del c.1008del c.1981del (p.Ser661AlafsTer13) c.1516del (p.Ser506AlafsTer13) | gnomAD v4 |
| 18 | g.23544978T>A | CA401772170 | NPC1 | c.1929A>T (p.Lys643Asn) n.1843A>T c.1007A>T c.1980A>T (p.Lys660Asn) c.1515A>T (p.Lys505Asn) | |
| 18 | g.23544978T>C | CA503521889 | NPC1 | c.1929A>G (p.Lys643=) n.1843A>G c.1007A>G c.1980A>G (p.Lys660=) c.1515A>G (p.Lys505=) | |
| 18 | g.23544978T>G | CA401772171 | NPC1 | c.1929A>C (p.Lys643Asn) n.1843A>C c.1007A>C c.1980A>C (p.Lys660Asn) c.1515A>C (p.Lys505Asn) | gnomAD v4 |
| 18 | g.23544979T>A | CA401772173 | NPC1 | c.1928A>T (p.Lys643Ile) n.1842A>T c.1006A>T c.1979A>T (p.Lys660Ile) c.1514A>T (p.Lys505Ile) | |
| 18 | g.23544979T>C | CA8913344 | NPC1 | c.1928A>G (p.Lys643Arg) n.1842A>G c.1006A>G c.1979A>G (p.Lys660Arg) c.1514A>G (p.Lys505Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23544979T>G | CA401772172 | NPC1 | c.1928A>C (p.Lys643Thr) n.1842A>C c.1006A>C c.1979A>C (p.Lys660Thr) c.1514A>C (p.Lys505Thr) | |
| 18 | g.23544979T= | CA2290168365 | NPC1 | c.1928A= (p.Lys643=) n.1842A= c.1006A= c.1979A= (p.Lys660=) c.1514A= (p.Lys505=) | |
| 18 | g.23544980T>A | CA401772174 | NPC1 | c.1927A>T (p.Lys643Ter) n.1841A>T c.1005A>T c.1978A>T (p.Lys660Ter) c.1513A>T (p.Lys505Ter) | |
| 18 | g.23544980T>C | CA401772175 | NPC1 | c.1927A>G (p.Lys643Glu) n.1841A>G c.1005A>G c.1978A>G (p.Lys660Glu) c.1513A>G (p.Lys505Glu) | |
| 18 | g.23544980T>G | CA401772176 | NPC1 | c.1927A>C (p.Lys643Gln) n.1841A>C c.1005A>C c.1978A>C (p.Lys660Gln) c.1513A>C (p.Lys505Gln) | |
| 18 | g.23544981C>A | CA401772177 | NPC1 | c.1926G>T (p.Met642Ile) n.1840G>T c.1004G>T c.1977G>T (p.Met659Ile) c.1512G>T (p.Met504Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23544981C= | CA341660 | NPC1 | c.1926G= (p.Met642=) n.1840G= c.1004G= c.1977G= (p.Met659=) c.1512G= (p.Met504=) | |
| 18 | g.23544981C>G | CA145951 | NPC1 | c.1926G>C (p.Met642Ile) n.1840G>C c.1004G>C c.1977G>C (p.Met659Ile) c.1512G>C (p.Met504Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23544981C>T | CA401772178 | NPC1 | c.1926G>A (p.Met642Ile) n.1840G>A c.1004G>A c.1977G>A (p.Met659Ile) c.1512G>A (p.Met504Ile) | dbSNP gnomAD v4 |
| 18 | g.23544982A= | CA2290168366 | NPC1 | c.1925T= (p.Met642=) n.1839T= c.1003T= c.1976T= (p.Met659=) c.1511T= (p.Met504=) | |
| 18 | g.23544982A>C | CA401772179 | NPC1 | c.1925T>G (p.Met642Arg) n.1839T>G c.1003T>G c.1976T>G (p.Met659Arg) c.1511T>G (p.Met504Arg) | |
| 18 | g.23544982A>G | CA401772180 | NPC1 | c.1925T>C (p.Met642Thr) n.1839T>C c.1003T>C c.1976T>C (p.Met659Thr) c.1511T>C (p.Met504Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544982A>T | CA401772181 | NPC1 | c.1925T>A (p.Met642Lys) n.1839T>A c.1003T>A c.1976T>A (p.Met659Lys) c.1511T>A (p.Met504Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23544983T>A | CA401772182 | NPC1 | c.1924A>T (p.Met642Leu) n.1838A>T c.1002A>T c.1975A>T (p.Met659Leu) c.1510A>T (p.Met504Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544983T>C | CA401772183 | NPC1 | c.1924A>G (p.Met642Val) n.1838A>G c.1002A>G c.1975A>G (p.Met659Val) c.1510A>G (p.Met504Val) | gnomAD v4 |
| 18 | g.23544983T>G | CA401772184 | NPC1 | c.1924A>C (p.Met642Leu) n.1838A>C c.1002A>C c.1975A>C (p.Met659Leu) c.1510A>C (p.Met504Leu) | |
| 18 | g.23544983T= | CA2290168367 | NPC1 | c.1924A= (p.Met642=) n.1838A= c.1002A= c.1975A= (p.Met659=) c.1510A= (p.Met504=) | |
| 18 | g.23544984G>A | CA8913345 | NPC1 | c.1923C>T (p.His641=) n.1837C>T c.1001C>T c.1974C>T (p.His658=) c.1509C>T (p.His503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23544984G>C | CA401772186 | NPC1 | c.1923C>G (p.His641Gln) n.1837C>G c.1001C>G c.1974C>G (p.His658Gln) c.1509C>G (p.His503Gln) | |
| 18 | g.23544984G= | CA2290168368 | NPC1 | c.1923C= (p.His641=) n.1837C= c.1001C= c.1974C= (p.His658=) c.1509C= (p.His503=) | |
| 18 | g.23544984G>T | CA401772185 | NPC1 | c.1923C>A (p.His641Gln) n.1837C>A c.1001C>A c.1974C>A (p.His658Gln) c.1509C>A (p.His503Gln) | gnomAD v4 |
| 18 | g.23544985T>A | CA401772189 | NPC1 | c.1922A>T (p.His641Leu) n.1836A>T c.1000A>T c.1973A>T (p.His658Leu) c.1508A>T (p.His503Leu) | |
| 18 | g.23544985T>C | CA401772187 | NPC1 | c.1922A>G (p.His641Arg) n.1836A>G c.1000A>G c.1973A>G (p.His658Arg) c.1508A>G (p.His503Arg) | |
| 18 | g.23544985T>G | CA401772188 | NPC1 | c.1922A>C (p.His641Pro) n.1836A>C c.1000A>C c.1973A>C (p.His658Pro) c.1508A>C (p.His503Pro) | gnomAD v4 |
| 18 | g.23544985_23544993delinsTGCCCCAAG | CA2290168369 | NPC1 | c.1914_1922delinsCTTGGGGCA (p.Ala638=) n.1828_1836delinsCTTGGGGCA c.992_1000delinsCTTGGGGCA c.1965_1973delinsCTTGGGGCA (p.Ala655=) c.1500_1508delinsCTTGGGGCA (p.Ala500=) | |
| 18 | g.23544986G>A | CA401772190 | NPC1 | c.1921C>T (p.His641Tyr) n.1835C>T c.999C>T c.1972C>T (p.His658Tyr) c.1507C>T (p.His503Tyr) | gnomAD v4 |
| 18 | g.23544986G>C | CA401772191 | NPC1 | c.1921C>G (p.His641Asp) n.1835C>G c.999C>G c.1972C>G (p.His658Asp) c.1507C>G (p.His503Asp) | gnomAD v4 |
| 18 | g.23544986G>T | CA401772192 | NPC1 | c.1921C>A (p.His641Asn) n.1835C>A c.999C>A c.1972C>A (p.His658Asn) c.1507C>A (p.His503Asn) | gnomAD v4 |
| 18 | g.23544986_23544987delinsGC | CA2290168370 | NPC1 | c.1920_1921delinsGC (p.Gly640=) n.1834_1835delinsGC c.998_999delinsGC c.1971_1972delinsGC (p.Gly657=) c.1506_1507delinsGC (p.Gly502=) | |
| 18 | g.23544988_23544995del | CA777725396 | NPC1 | c.1914_1921del (p.Leu639HisfsTer?) n.1828_1835del c.992_999del c.1965_1972del (p.Leu656HisfsTer?) c.1500_1507del (p.Leu501HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544987C>A | CA503521892 | NPC1 | c.1920G>T (p.Gly640=) n.1834G>T c.998G>T c.1971G>T (p.Gly657=) c.1506G>T (p.Gly502=) | gnomAD v4 |
| 18 | g.23544987C>G | CA503521893 | NPC1 | c.1920G>C (p.Gly640=) n.1834G>C c.998G>C c.1971G>C (p.Gly657=) c.1506G>C (p.Gly502=) | |
| 18 | g.23544987C>T | CA503521894 | NPC1 | c.1920G>A (p.Gly640=) n.1834G>A c.998G>A c.1971G>A (p.Gly657=) c.1506G>A (p.Gly502=) | ClinVar |
| 18 | g.23544990del | CA10604013 | NPC1 | c.1920del (p.His641ThrfsTer2) n.1834del c.998del c.1971del (p.His658ThrfsTer2) c.1506del (p.His503ThrfsTer2) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23544988C>A | CA401772195 | NPC1 | c.1919G>T (p.Gly640Val) n.1833G>T c.997G>T c.1970G>T (p.Gly657Val) c.1505G>T (p.Gly502Val) | |
| 18 | g.23544988C>G | CA401772193 | NPC1 | c.1919G>C (p.Gly640Ala) n.1833G>C c.997G>C c.1970G>C (p.Gly657Ala) c.1505G>C (p.Gly502Ala) | |
| 18 | g.23544988C>T | CA401772194 | NPC1 | c.1919G>A (p.Gly640Glu) n.1833G>A c.997G>A c.1970G>A (p.Gly657Glu) c.1505G>A (p.Gly502Glu) | gnomAD v4 |
| 18 | g.23544989C>A | CA401772196 | NPC1 | c.1918G>T (p.Gly640Trp) n.1832G>T c.996G>T c.1969G>T (p.Gly657Trp) c.1504G>T (p.Gly502Trp) | |
| 18 | g.23544989C= | CA2290168371 | NPC1 | c.1918G= (p.Gly640=) n.1832G= c.996G= c.1969G= (p.Gly657=) c.1504G= (p.Gly502=) | |
| 18 | g.23544989C>G | CA401772197 | NPC1 | c.1918G>C (p.Gly640Arg) n.1832G>C c.996G>C c.1969G>C (p.Gly657Arg) c.1504G>C (p.Gly502Arg) | |
| 18 | g.23544989C>T | CA401772198 | NPC1 | c.1918G>A (p.Gly640Arg) n.1832G>A c.996G>A c.1969G>A (p.Gly657Arg) c.1504G>A (p.Gly502Arg) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23544990C>A | CA401772199 | NPC1 | c.1917G>T (p.Leu639Phe) n.1831G>T c.995G>T c.1968G>T (p.Leu656Phe) c.1503G>T (p.Leu501Phe) | |
| 18 | g.23544990C>G | CA401772200 | NPC1 | c.1917G>C (p.Leu639Phe) n.1831G>C c.995G>C c.1968G>C (p.Leu656Phe) c.1503G>C (p.Leu501Phe) | |
| 18 | g.23544990C>T | CA503521895 | NPC1 | c.1917G>A (p.Leu639=) n.1831G>A c.995G>A c.1968G>A (p.Leu656=) c.1503G>A (p.Leu501=) | |
| 18 | g.23544991A>C | CA401772203 | NPC1 | c.1916T>G (p.Leu639Trp) n.1830T>G c.994T>G c.1967T>G (p.Leu656Trp) c.1502T>G (p.Leu501Trp) | gnomAD v3 gnomAD v4 |
| 18 | g.23544991A>G | CA401772201 | NPC1 | c.1916T>C (p.Leu639Ser) n.1830T>C c.994T>C c.1967T>C (p.Leu656Ser) c.1502T>C (p.Leu501Ser) | |
| 18 | g.23544991A>T | CA401772202 | NPC1 | c.1916T>A (p.Leu639Ter) n.1830T>A c.994T>A c.1967T>A (p.Leu656Ter) c.1502T>A (p.Leu501Ter) | |
| 18 | g.23544992A>C | CA401772204 | NPC1 | c.1915T>G (p.Leu639Val) n.1829T>G c.993T>G c.1966T>G (p.Leu656Val) c.1501T>G (p.Leu501Val) | gnomAD v4 |
| 18 | g.23544992A>G | CA503521897 | NPC1 | c.1915T>C (p.Leu639=) n.1829T>C c.993T>C c.1966T>C (p.Leu656=) c.1501T>C (p.Leu501=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23544992A>T | CA401772205 | NPC1 | c.1915T>A (p.Leu639Met) n.1829T>A c.993T>A c.1966T>A (p.Leu656Met) c.1501T>A (p.Leu501Met) | |
| 18 | g.23544993G>A | CA503521900 | NPC1 | c.1914C>T (p.Ala638=) n.1828C>T c.992C>T c.1965C>T (p.Ala655=) c.1500C>T (p.Ala500=) | |
| 18 | g.23544993G>C | CA503521898 | NPC1 | c.1914C>G (p.Ala638=) n.1828C>G c.992C>G c.1965C>G (p.Ala655=) c.1500C>G (p.Ala500=) | |
| 18 | g.23544993G>T | CA503521899 | NPC1 | c.1914C>A (p.Ala638=) n.1828C>A c.992C>A c.1965C>A (p.Ala655=) c.1500C>A (p.Ala500=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23544994G>A | CA401772206 | NPC1 | c.1913C>T (p.Ala638Val) n.1827C>T c.991C>T c.1964C>T (p.Ala655Val) c.1499C>T (p.Ala500Val) | |
| 18 | g.23544994G>C | CA401772207 | NPC1 | c.1913C>G (p.Ala638Gly) n.1827C>G c.991C>G c.1964C>G (p.Ala655Gly) c.1499C>G (p.Ala500Gly) | dbSNP gnomAD v4 |
| 18 | g.23544994G= | CA2290168372 | NPC1 | c.1913C= (p.Ala638=) n.1827C= c.991C= c.1964C= (p.Ala655=) c.1499C= (p.Ala500=) | |
| 18 | g.23544994G>T | CA401772208 | NPC1 | c.1913C>A (p.Ala638Asp) n.1827C>A c.991C>A c.1964C>A (p.Ala655Asp) c.1499C>A (p.Ala500Asp) | |
| 18 | g.23544995C>A | CA401772209 | NPC1 | c.1912G>T (p.Ala638Ser) n.1826G>T c.990G>T c.1963G>T (p.Ala655Ser) c.1498G>T (p.Ala500Ser) | |
| 18 | g.23544995C>G | CA401772210 | NPC1 | c.1912G>C (p.Ala638Pro) n.1826G>C c.990G>C c.1963G>C (p.Ala655Pro) c.1498G>C (p.Ala500Pro) | |
| 18 | g.23544995C>T | CA401772211 | NPC1 | c.1912G>A (p.Ala638Thr) n.1826G>A c.990G>A c.1963G>A (p.Ala655Thr) c.1498G>A (p.Ala500Thr) | |
| 18 | g.23544996T>A | CA503521904 | NPC1 | c.1911A>T (p.Leu637=) n.1825A>T c.989A>T c.1962A>T (p.Leu654=) c.1497A>T (p.Leu499=) | |
| 18 | g.23544996T>C | CA503521905 | NPC1 | c.1911A>G (p.Leu637=) n.1825A>G c.989A>G c.1962A>G (p.Leu654=) c.1497A>G (p.Leu499=) | |
| 18 | g.23544996T>G | CA503521906 | NPC1 | c.1911A>C (p.Leu637=) n.1825A>C c.989A>C c.1962A>C (p.Leu654=) c.1497A>C (p.Leu499=) | ClinVar gnomAD v4 |
| 18 | g.23544997A>C | CA401772212 | NPC1 | c.1910T>G (p.Leu637Arg) n.1824T>G c.988T>G c.1961T>G (p.Leu654Arg) c.1496T>G (p.Leu499Arg) | |
| 18 | g.23544997A>G | CA401772213 | NPC1 | c.1910T>C (p.Leu637Pro) n.1824T>C c.988T>C c.1961T>C (p.Leu654Pro) c.1496T>C (p.Leu499Pro) | |
| 18 | g.23544997A>T | CA401772214 | NPC1 | c.1910T>A (p.Leu637Gln) n.1824T>A c.988T>A c.1961T>A (p.Leu654Gln) c.1496T>A (p.Leu499Gln) | |
| 18 | g.23544998G>A | CA503521907 | NPC1 | c.1909C>T (p.Leu637=) n.1823C>T c.987C>T c.1960C>T (p.Leu654=) c.1495C>T (p.Leu499=) | |
| 18 | g.23544998G>C | CA8913346 | NPC1 | c.1909C>G (p.Leu637Val) n.1823C>G c.987C>G c.1960C>G (p.Leu654Val) c.1495C>G (p.Leu499Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23544998G= | CA2290168373 | NPC1 | c.1909C= (p.Leu637=) n.1823C= c.987C= c.1960C= (p.Leu654=) c.1495C= (p.Leu499=) | |
| 18 | g.23544998G>T | CA401772215 | NPC1 | c.1909C>A (p.Leu637Ile) n.1823C>A c.987C>A c.1960C>A (p.Leu654Ile) c.1495C>A (p.Leu499Ile) | gnomAD v4 |
| 18 | g.23544999G>A | CA503521910 | NPC1 | c.1908C>T (p.Ser636=) n.1822C>T c.986C>T c.1959C>T (p.Ser653=) c.1494C>T (p.Ser498=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23544999G>C | CA503521912 | NPC1 | c.1908C>G (p.Ser636=) n.1822C>G c.986C>G c.1959C>G (p.Ser653=) c.1494C>G (p.Ser498=) | |
| 18 | g.23544999G= | CA2290168374 | NPC1 | c.1908C= (p.Ser636=) n.1822C= c.986C= c.1959C= (p.Ser653=) c.1494C= (p.Ser498=) | |
| 18 | g.23544999G>T | CA503521911 | NPC1 | c.1908C>A (p.Ser636=) n.1822C>A c.986C>A c.1959C>A (p.Ser653=) c.1494C>A (p.Ser498=) | |
| 18 | g.23545000G>A | CA401772218 | NPC1 | c.1907C>T (p.Ser636Phe) n.1821C>T c.985C>T c.1958C>T (p.Ser653Phe) c.1493C>T (p.Ser498Phe) | COSMIC |
| 18 | g.23545000G>C | CA401772216 | NPC1 | c.1907C>G (p.Ser636Cys) n.1821C>G c.985C>G c.1958C>G (p.Ser653Cys) c.1493C>G (p.Ser498Cys) | |
| 18 | g.23545000G= | CA2290168375 | NPC1 | c.1907C= (p.Ser636=) n.1821C= c.985C= c.1958C= (p.Ser653=) c.1493C= (p.Ser498=) | |
| 18 | g.23545000G>T | CA401772217 | NPC1 | c.1907C>A (p.Ser636Tyr) n.1821C>A c.985C>A c.1958C>A (p.Ser653Tyr) c.1493C>A (p.Ser498Tyr) | |
| 18 | g.23545001A= | CA2290168376 | NPC1 | c.1906T= (p.Ser636=) n.1820T= c.984T= c.1957T= (p.Ser653=) c.1492T= (p.Ser498=) | |
| 18 | g.23545001A>C | CA8913347 | NPC1 | c.1906T>G (p.Ser636Ala) n.1820T>G c.984T>G c.1957T>G (p.Ser653Ala) c.1492T>G (p.Ser498Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23545001A>G | CA401772219 | NPC1 | c.1906T>C (p.Ser636Pro) n.1820T>C c.984T>C c.1957T>C (p.Ser653Pro) c.1492T>C (p.Ser498Pro) | COSMIC COSMIC |
| 18 | g.23545001A>T | CA401772220 | NPC1 | c.1906T>A (p.Ser636Thr) n.1820T>A c.984T>A c.1957T>A (p.Ser653Thr) c.1492T>A (p.Ser498Thr) | |
| 18 | g.23545002_23545005dup | CA1139665983 | NPC1 | c.1903_1906dup (p.Ser636TyrfsTer?) n.1817_1820dup c.981_984dup c.1954_1957dup (p.Ser653TyrfsTer?) c.1489_1492dup (p.Ser498TyrfsTer?) | ClinVar dbSNP |
| 18 | g.23545002A>C | CA401772221 | NPC1 | c.1905T>G (p.Ile635Met) n.1819T>G c.983T>G c.1956T>G (p.Ile652Met) c.1491T>G (p.Ile497Met) | |
| 18 | g.23545002A>G | CA503521914 | NPC1 | c.1905T>C (p.Ile635=) n.1819T>C c.983T>C c.1956T>C (p.Ile652=) c.1491T>C (p.Ile497=) | |
| 18 | g.23545002A>T | CA503521915 | NPC1 | c.1905T>A (p.Ile635=) n.1819T>A c.983T>A c.1956T>A (p.Ile652=) c.1491T>A (p.Ile497=) | |
| 18 | g.23545002delinsCAT | CA2695227329 | NPC1 | c.1905delinsATG (p.Ser636CysfsTer3) n.1819delinsATG c.983delinsATG c.1956delinsATG (p.Ser653CysfsTer3) c.1491delinsATG (p.Ser498CysfsTer3) | |
| 18 | g.23545003A>C | CA401772222 | NPC1 | c.1904T>G (p.Ile635Ser) n.1818T>G c.982T>G c.1955T>G (p.Ile652Ser) c.1490T>G (p.Ile497Ser) | |
| 18 | g.23545003A>G | CA401772223 | NPC1 | c.1904T>C (p.Ile635Thr) n.1818T>C c.982T>C c.1955T>C (p.Ile652Thr) c.1490T>C (p.Ile497Thr) | |
| 18 | g.23545003A>T | CA401772224 | NPC1 | c.1904T>A (p.Ile635Asn) n.1818T>A c.982T>A c.1955T>A (p.Ile652Asn) c.1490T>A (p.Ile497Asn) | |
| 18 | g.23545004T>A | CA401772225 | NPC1 | c.1903A>T (p.Ile635Phe) n.1817A>T c.981A>T c.1954A>T (p.Ile652Phe) c.1489A>T (p.Ile497Phe) | |
| 18 | g.23545004T>C | CA401772226 | NPC1 | c.1903A>G (p.Ile635Val) n.1817A>G c.981A>G c.1954A>G (p.Ile652Val) c.1489A>G (p.Ile497Val) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23545004T>G | CA401772227 | NPC1 | c.1903A>C (p.Ile635Leu) n.1817A>C c.981A>C c.1954A>C (p.Ile652Leu) c.1489A>C (p.Ile497Leu) | |
| 18 | g.23545004T= | CA2290168377 | NPC1 | c.1903A= (p.Ile635=) n.1817A= c.981A= c.1954A= (p.Ile652=) c.1489A= (p.Ile497=) | |
| 18 | g.23545005A= | CA2290168378 | NPC1 | c.1902T= (p.Tyr634=) n.1816T= c.980T= c.1953T= (p.Tyr651=) c.1488T= (p.Tyr496=) | |
| 18 | g.23545005A>C | CA401772228 | NPC1 | c.1902T>G (p.Tyr634Ter) n.1816T>G c.980T>G c.1953T>G (p.Tyr651Ter) c.1488T>G (p.Tyr496Ter) | |
| 18 | g.23545005A>G | CA8913348 | NPC1 | c.1902T>C (p.Tyr634=) n.1816T>C c.980T>C c.1953T>C (p.Tyr651=) c.1488T>C (p.Tyr496=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23545005A>T | CA401772229 | NPC1 | c.1902T>A (p.Tyr634Ter) n.1816T>A c.980T>A c.1953T>A (p.Tyr651Ter) c.1488T>A (p.Tyr496Ter) | |
| 18 | g.23545006_23545013dup | CA2576471009 | NPC1 | c.1895_1902dup (p.Ile635PhefsTer6) n.1809_1816dup c.973_980dup c.1946_1953dup (p.Ile652PhefsTer6) c.1481_1488dup (p.Ile497PhefsTer6) | |
| 18 | g.23545006T>A | CA401772234 | NPC1 | c.1901A>T (p.Tyr634Phe) n.1815A>T c.979A>T c.1952A>T (p.Tyr651Phe) c.1487A>T (p.Tyr496Phe) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23545006T>C | CA297060739 | NPC1 | c.1901A>G (p.Tyr634Cys) n.1815A>G c.979A>G c.1952A>G (p.Tyr651Cys) c.1487A>G (p.Tyr496Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23545006T>G | CA401772231 | NPC1 | c.1901A>C (p.Tyr634Ser) n.1815A>C c.979A>C c.1952A>C (p.Tyr651Ser) c.1487A>C (p.Tyr496Ser) | |
| 18 | g.23545006T= | CA2290168379 | NPC1 | c.1901A= (p.Tyr634=) n.1815A= c.979A= c.1952A= (p.Tyr651=) c.1487A= (p.Tyr496=) | |
| 18 | g.23545007A>C | CA401772237 | NPC1 | c.1900T>G (p.Tyr634Asp) n.1814T>G c.978T>G c.1951T>G (p.Tyr651Asp) c.1486T>G (p.Tyr496Asp) | |
| 18 | g.23545007A>G | CA401772238 | NPC1 | c.1900T>C (p.Tyr634His) n.1814T>C c.978T>C c.1951T>C (p.Tyr651His) c.1486T>C (p.Tyr496His) | |
| 18 | g.23545007A>T | CA401772240 | NPC1 | c.1900T>A (p.Tyr634Asn) n.1814T>A c.978T>A c.1951T>A (p.Tyr651Asn) c.1486T>A (p.Tyr496Asn) | ClinVar |
| 18 | g.23545008T>A | CA503521920 | NPC1 | c.1899A>T (p.Leu633=) n.1813A>T c.977A>T c.1950A>T (p.Leu650=) c.1485A>T (p.Leu495=) | |
| 18 | g.23545008T>C | CA503521921 | NPC1 | c.1899A>G (p.Leu633=) n.1813A>G c.977A>G c.1950A>G (p.Leu650=) c.1485A>G (p.Leu495=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23545008T>G | CA503521919 | NPC1 | c.1899A>C (p.Leu633=) n.1813A>C c.977A>C c.1950A>C (p.Leu650=) c.1485A>C (p.Leu495=) | |
| 18 | g.23545008T= | CA2290168380 | NPC1 | c.1899A= (p.Leu633=) n.1813A= c.977A= c.1950A= (p.Leu650=) c.1485A= (p.Leu495=) | |
| 18 | g.23545009A>C | CA401772243 | NPC1 | c.1898T>G (p.Leu633Arg) n.1812T>G c.976T>G c.1949T>G (p.Leu650Arg) c.1484T>G (p.Leu495Arg) | |
| 18 | g.23545009A>G | CA401772245 | NPC1 | c.1898T>C (p.Leu633Pro) n.1812T>C c.976T>C c.1949T>C (p.Leu650Pro) c.1484T>C (p.Leu495Pro) | |
| 18 | g.23545009A>T | CA401772246 | NPC1 | c.1898T>A (p.Leu633Gln) n.1812T>A c.976T>A c.1949T>A (p.Leu650Gln) c.1484T>A (p.Leu495Gln) | |
| 18 | g.23545010G>A | CA503521922 | NPC1 | c.1897C>T (p.Leu633=) n.1811C>T c.975C>T c.1948C>T (p.Leu650=) c.1483C>T (p.Leu495=) | |
| 18 | g.23545010G>C | CA401772249 | NPC1 | c.1897C>G (p.Leu633Val) n.1811C>G c.975C>G c.1948C>G (p.Leu650Val) c.1483C>G (p.Leu495Val) | dbSNP gnomAD v4 |
| 18 | g.23545010G= | CA2290168381 | NPC1 | c.1897C= (p.Leu633=) n.1811C= c.975C= c.1948C= (p.Leu650=) c.1483C= (p.Leu495=) | |
| 18 | g.23545010G>T | CA401772251 | NPC1 | c.1897C>A (p.Leu633Ile) n.1811C>A c.975C>A c.1948C>A (p.Leu650Ile) c.1483C>A (p.Leu495Ile) | |
| 18 | g.23545011A>C | CA401772255 | NPC1 | c.1896T>G (p.Phe632Leu) n.1810T>G c.974T>G c.1947T>G (p.Phe649Leu) c.1482T>G (p.Phe494Leu) | |
| 18 | g.23545011A>G | CA503521923 | NPC1 | c.1896T>C (p.Phe632=) n.1810T>C c.974T>C c.1947T>C (p.Phe649=) c.1482T>C (p.Phe494=) | |
| 18 | g.23545011A>T | CA401772257 | NPC1 | c.1896T>A (p.Phe632Leu) n.1810T>A c.974T>A c.1947T>A (p.Phe649Leu) c.1482T>A (p.Phe494Leu) | |
| 18 | g.23545012A>C | CA401772259 | NPC1 | c.1895T>G (p.Phe632Cys) n.1809T>G c.973T>G c.1946T>G (p.Phe649Cys) c.1481T>G (p.Phe494Cys) | |
| 18 | g.23545012A>G | CA401772261 | NPC1 | c.1895T>C (p.Phe632Ser) n.1809T>C c.973T>C c.1946T>C (p.Phe649Ser) c.1481T>C (p.Phe494Ser) | |
| 18 | g.23545012A>T | CA401772263 | NPC1 | c.1895T>A (p.Phe632Tyr) n.1809T>A c.973T>A c.1946T>A (p.Phe649Tyr) c.1481T>A (p.Phe494Tyr) | |
| 18 | g.23545013A>C | CA401772269 | NPC1 | c.1894T>G (p.Phe632Val) n.1808T>G c.972T>G c.1945T>G (p.Phe649Val) c.1480T>G (p.Phe494Val) | |
| 18 | g.23545013A>G | CA401772271 | NPC1 | c.1894T>C (p.Phe632Leu) n.1808T>C c.972T>C c.1945T>C (p.Phe649Leu) c.1480T>C (p.Phe494Leu) | |
| 18 | g.23545013A>T | CA401772267 | NPC1 | c.1894T>A (p.Phe632Ile) n.1808T>A c.972T>A c.1945T>A (p.Phe649Ile) c.1480T>A (p.Phe494Ile) | |
| 18 | g.23545014C>A | CA401772275 | NPC1 | c.1893G>T (p.Met631Ile) n.1807G>T c.971G>T c.1944G>T (p.Met648Ile) c.1479G>T (p.Met493Ile) | |
| 18 | g.23545014C>G | CA401772279 | NPC1 | c.1893G>C (p.Met631Ile) n.1807G>C c.971G>C c.1944G>C (p.Met648Ile) c.1479G>C (p.Met493Ile) | |
| 18 | g.23545014C>T | CA401772277 | NPC1 | c.1893G>A (p.Met631Ile) n.1807G>A c.971G>A c.1944G>A (p.Met648Ile) c.1479G>A (p.Met493Ile) | |
| 18 | g.23545015A= | CA2290168382 | NPC1 | c.1892T= (p.Met631=) n.1806T= c.970T= c.1943T= (p.Met648=) c.1478T= (p.Met493=) | |
| 18 | g.23545015A>C | CA401772280 | NPC1 | c.1892T>G (p.Met631Arg) n.1806T>G c.970T>G c.1943T>G (p.Met648Arg) c.1478T>G (p.Met493Arg) | gnomAD v4 |
| 18 | g.23545015A>G | CA401772281 | NPC1 | c.1892T>C (p.Met631Thr) n.1806T>C c.970T>C c.1943T>C (p.Met648Thr) c.1478T>C (p.Met493Thr) | dbSNP gnomAD v4 |
| 18 | g.23545015A>T | CA401772283 | NPC1 | c.1892T>A (p.Met631Lys) n.1806T>A c.970T>A c.1943T>A (p.Met648Lys) c.1478T>A (p.Met493Lys) | |
| 18 | g.23545016T>A | CA401772286 | NPC1 | c.1891A>T (p.Met631Leu) n.1805A>T c.969A>T c.1942A>T (p.Met648Leu) c.1477A>T (p.Met493Leu) | |
| 18 | g.23545016T>C | CA401772288 | NPC1 | c.1891A>G (p.Met631Val) n.1805A>G c.969A>G c.1942A>G (p.Met648Val) c.1477A>G (p.Met493Val) | |
| 18 | g.23545016T>G | CA401772290 | NPC1 | c.1891A>C (p.Met631Leu) n.1805A>C c.969A>C c.1942A>C (p.Met648Leu) c.1477A>C (p.Met493Leu) | |
| 18 | g.23545017G>A | CA503521930 | NPC1 | c.1890C>T (p.Ile630=) n.1804C>T c.968C>T c.1941C>T (p.Ile647=) c.1476C>T (p.Ile492=) | gnomAD v4 |
| 18 | g.23545017G>C | CA401772292 | NPC1 | c.1890C>G (p.Ile630Met) n.1804C>G c.968C>G c.1941C>G (p.Ile647Met) c.1476C>G (p.Ile492Met) | |
| 18 | g.23545017G>T | CA503521931 | NPC1 | c.1890C>A (p.Ile630=) n.1804C>A c.968C>A c.1941C>A (p.Ile647=) c.1476C>A (p.Ile492=) | |
| 18 | g.23545018A= | CA2290168383 | NPC1 | c.1889T= (p.Ile630=) n.1803T= c.967T= c.1940T= (p.Ile647=) c.1475T= (p.Ile492=) | |
| 18 | g.23545018A>C | CA401772295 | NPC1 | c.1889T>G (p.Ile630Ser) n.1803T>G c.967T>G c.1940T>G (p.Ile647Ser) c.1475T>G (p.Ile492Ser) | |
| 18 | g.23545018A>G | CA8913349 | NPC1 | c.1889T>C (p.Ile630Thr) n.1803T>C c.967T>C c.1940T>C (p.Ile647Thr) c.1475T>C (p.Ile492Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23545018A>T | CA401772299 | NPC1 | c.1889T>A (p.Ile630Asn) n.1803T>A c.967T>A c.1940T>A (p.Ile647Asn) c.1475T>A (p.Ile492Asn) | |
| 18 | g.23545019T>A | CA401772302 | NPC1 | c.1888A>T (p.Ile630Phe) n.1802A>T c.966A>T c.1939A>T (p.Ile647Phe) c.1474A>T (p.Ile492Phe) | |
| 18 | g.23545019T>C | CA401772304 | NPC1 | c.1888A>G (p.Ile630Val) n.1802A>G c.966A>G c.1939A>G (p.Ile647Val) c.1474A>G (p.Ile492Val) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23545019T>G | CA401772306 | NPC1 | c.1888A>C (p.Ile630Leu) n.1802A>C c.966A>C c.1939A>C (p.Ile647Leu) c.1474A>C (p.Ile492Leu) | |
| 18 | g.23545019T= | CA2290168384 | NPC1 | c.1888A= (p.Ile630=) n.1802A= c.966A= c.1939A= (p.Ile647=) c.1474A= (p.Ile492=) | |
| 18 | g.23545020G>A | CA503521933 | NPC1 | c.1887C>T (p.Ala629=) n.1801C>T c.965C>T c.1938C>T (p.Ala646=) c.1473C>T (p.Ala491=) | ClinVar gnomAD v4 |
| 18 | g.23545020G>C | CA503521934 | NPC1 | c.1887C>G (p.Ala629=) n.1801C>G c.965C>G c.1938C>G (p.Ala646=) c.1473C>G (p.Ala491=) | |
| 18 | g.23545020G>T | CA503521935 | NPC1 | c.1887C>A (p.Ala629=) n.1801C>A c.965C>A c.1938C>A (p.Ala646=) c.1473C>A (p.Ala491=) | |
| 18 | g.23545021G>A | CA401772307 | NPC1 | c.1886C>T (p.Ala629Val) n.1800C>T c.964C>T c.1937C>T (p.Ala646Val) c.1472C>T (p.Ala491Val) | gnomAD v4 |
| 18 | g.23545021G>C | CA401772312 | NPC1 | c.1886C>G (p.Ala629Gly) n.1800C>G c.964C>G c.1937C>G (p.Ala646Gly) c.1472C>G (p.Ala491Gly) | |
| 18 | g.23545021G>T | CA401772309 | NPC1 | c.1886C>A (p.Ala629Asp) n.1800C>A c.964C>A c.1937C>A (p.Ala646Asp) c.1472C>A (p.Ala491Asp) | |
| 18 | g.23545022C>A | CA401772317 | NPC1 | c.1885G>T (p.Ala629Ser) n.1799G>T c.963G>T c.1936G>T (p.Ala646Ser) c.1471G>T (p.Ala491Ser) | |
| 18 | g.23545022C>G | CA401772319 | NPC1 | c.1885G>C (p.Ala629Pro) n.1799G>C c.963G>C c.1936G>C (p.Ala646Pro) c.1471G>C (p.Ala491Pro) | |
| 18 | g.23545022C>T | CA401772323 | NPC1 | c.1885G>A (p.Ala629Thr) n.1799G>A c.963G>A c.1936G>A (p.Ala646Thr) c.1471G>A (p.Ala491Thr) | |
| 18 | g.23545023A>C | CA401772326 | NPC1 | c.1884T>G (p.Tyr628Ter) n.1798T>G c.962T>G c.1935T>G (p.Tyr645Ter) c.1470T>G (p.Tyr490Ter) | |
| 18 | g.23545023A>G | CA503521937 | NPC1 | c.1884T>C (p.Tyr628=) n.1798T>C c.962T>C c.1935T>C (p.Tyr645=) c.1470T>C (p.Tyr490=) | |
| 18 | g.23545023A>T | CA401772329 | NPC1 | c.1884T>A (p.Tyr628Ter) n.1798T>A c.962T>A c.1935T>A (p.Tyr645Ter) c.1470T>A (p.Tyr490Ter) | |
| 18 | g.23545024T>A | CA401772335 | NPC1 | c.1883A>T (p.Tyr628Phe) n.1797A>T c.961A>T c.1934A>T (p.Tyr645Phe) c.1469A>T (p.Tyr490Phe) | |
| 18 | g.23545024T>C | CA401772338 | NPC1 | c.1883A>G (p.Tyr628Cys) n.1797A>G c.961A>G c.1934A>G (p.Tyr645Cys) c.1469A>G (p.Tyr490Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23545024T>G | CA401772341 | NPC1 | c.1883A>C (p.Tyr628Ser) n.1797A>C c.961A>C c.1934A>C (p.Tyr645Ser) c.1469A>C (p.Tyr490Ser) | ClinVar dbSNP |
| 18 | g.23545024T= | CA2290168385 | NPC1 | c.1883A= (p.Tyr628=) n.1797A= c.961A= c.1934A= (p.Tyr645=) c.1469A= (p.Tyr490=) | |
| 18 | g.23545025A= | CA2290168386 | NPC1 | c.1882T= (p.Tyr628=) n.1796T= c.960T= c.1933T= (p.Tyr645=) c.1468T= (p.Tyr490=) | |
| 18 | g.23545025A>C | CA401772344 | NPC1 | c.1882T>G (p.Tyr628Asp) n.1796T>G c.960T>G c.1933T>G (p.Tyr645Asp) c.1468T>G (p.Tyr490Asp) | |
| 18 | g.23545025A>G | CA8913350 | NPC1 | c.1882T>C (p.Tyr628His) n.1796T>C c.960T>C c.1933T>C (p.Tyr645His) c.1468T>C (p.Tyr490His) | dbSNP ExAC gnomAD v2 |
| 18 | g.23545025A>T | CA401772349 | NPC1 | c.1882T>A (p.Tyr628Asn) n.1796T>A c.960T>A c.1933T>A (p.Tyr645Asn) c.1468T>A (p.Tyr490Asn) | |
| 18 | g.23545026G>A | CA503521941 | NPC1 | c.1881C>T (p.Ser627=) n.1795C>T c.959C>T c.1932C>T (p.Ser644=) c.1467C>T (p.Ser489=) | |
| 18 | g.23545026G>C | CA401772352 | NPC1 | c.1881C>G (p.Ser627Arg) n.1795C>G c.959C>G c.1932C>G (p.Ser644Arg) c.1467C>G (p.Ser489Arg) | |
| 18 | g.23545026G>T | CA401772355 | NPC1 | c.1881C>A (p.Ser627Arg) n.1795C>A c.959C>A c.1932C>A (p.Ser644Arg) c.1467C>A (p.Ser489Arg) | |
| 18 | g.23545027C>A | CA401772360 | NPC1 | c.1880G>T (p.Ser627Ile) n.1794G>T c.958G>T c.1931G>T (p.Ser644Ile) c.1466G>T (p.Ser489Ile) | |
| 18 | g.23545027C>G | CA401772362 | NPC1 | c.1880G>C (p.Ser627Thr) n.1794G>C c.958G>C c.1931G>C (p.Ser644Thr) c.1466G>C (p.Ser489Thr) | |
| 18 | g.23545027C>T | CA401772366 | NPC1 | c.1880G>A (p.Ser627Asn) n.1794G>A c.958G>A c.1931G>A (p.Ser644Asn) c.1466G>A (p.Ser489Asn) | |
| 18 | g.23545028T>A | CA401772370 | NPC1 | c.1879A>T (p.Ser627Cys) n.1793A>T c.957A>T c.1930A>T (p.Ser644Cys) c.1465A>T (p.Ser489Cys) | |
| 18 | g.23545028T>C | CA401772387 | NPC1 | c.1879A>G (p.Ser627Gly) n.1793A>G c.957A>G c.1930A>G (p.Ser644Gly) c.1465A>G (p.Ser489Gly) | |
| 18 | g.23545028T>G | CA401772390 | NPC1 | c.1879A>C (p.Ser627Arg) n.1793A>C c.957A>C c.1930A>C (p.Ser644Arg) c.1465A>C (p.Ser489Arg) | |
| 18 | g.23545029A= | CA2290168387 | NPC1 | c.1878T= (p.Ile626=) n.1792T= c.956T= c.1929T= (p.Ile643=) c.1464T= (p.Ile488=) | |
| 18 | g.23545029A>C | CA401772394 | NPC1 | c.1878T>G (p.Ile626Met) n.1792T>G c.956T>G c.1929T>G (p.Ile643Met) c.1464T>G (p.Ile488Met) | |
| 18 | g.23545029A>G | CA503521944 | NPC1 | c.1878T>C (p.Ile626=) n.1792T>C c.956T>C c.1929T>C (p.Ile643=) c.1464T>C (p.Ile488=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23545029A>T | CA503521945 | NPC1 | c.1878T>A (p.Ile626=) n.1792T>A c.956T>A c.1929T>A (p.Ile643=) c.1464T>A (p.Ile488=) | |
| 18 | g.23545030A>C | CA401772397 | NPC1 | c.1877T>G (p.Ile626Ser) n.1791T>G c.955T>G c.1928T>G (p.Ile643Ser) c.1463T>G (p.Ile488Ser) | gnomAD v4 |
| 18 | g.23545030A>G | CA401772411 | NPC1 | c.1877T>C (p.Ile626Thr) n.1791T>C c.955T>C c.1928T>C (p.Ile643Thr) c.1463T>C (p.Ile488Thr) | gnomAD v4 |
| 18 | g.23545030A>T | CA401772402 | NPC1 | c.1877T>A (p.Ile626Asn) n.1791T>A c.955T>A c.1928T>A (p.Ile643Asn) c.1463T>A (p.Ile488Asn) | |
| 18 | g.23545031T>A | CA401772417 | NPC1 | c.1876A>T (p.Ile626Phe) n.1790A>T c.954A>T c.1927A>T (p.Ile643Phe) c.1462A>T (p.Ile488Phe) | |
| 18 | g.23545031T>C | CA401772421 | NPC1 | c.1876A>G (p.Ile626Val) n.1790A>G c.954A>G c.1927A>G (p.Ile643Val) c.1462A>G (p.Ile488Val) | gnomAD v4 |
| 18 | g.23545031T>G | CA401772425 | NPC1 | c.1876A>C (p.Ile626Leu) n.1790A>C c.954A>C c.1927A>C (p.Ile643Leu) c.1462A>C (p.Ile488Leu) | COSMIC |
| 18 | g.23545032T>A | CA503521947 | NPC1 | c.1875A>T (p.Val625=) n.1789A>T c.953A>T c.1926A>T (p.Val642=) c.1461A>T (p.Val487=) | |
| 18 | g.23545032T>C | CA8913351 | NPC1 | c.1875A>G (p.Val625=) n.1789A>G c.953A>G c.1926A>G (p.Val642=) c.1461A>G (p.Val487=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23545032T>G | CA503521948 | NPC1 | c.1875A>C (p.Val625=) n.1789A>C c.953A>C c.1926A>C (p.Val642=) c.1461A>C (p.Val487=) | |
| 18 | g.23545032T= | CA2290168388 | NPC1 | c.1875A= (p.Val625=) n.1789A= c.953A= c.1926A= (p.Val642=) c.1461A= (p.Val487=) | |
| 18 | g.23545033A>C | CA401772433 | NPC1 | c.1874T>G (p.Val625Gly) n.1788T>G c.952T>G c.1925T>G (p.Val642Gly) c.1460T>G (p.Val487Gly) | |
| 18 | g.23545033A>G | CA401772444 | NPC1 | c.1874T>C (p.Val625Ala) n.1788T>C c.952T>C c.1925T>C (p.Val642Ala) c.1460T>C (p.Val487Ala) | |
| 18 | g.23545033A>T | CA401772441 | NPC1 | c.1874T>A (p.Val625Glu) n.1788T>A c.952T>A c.1925T>A (p.Val642Glu) c.1460T>A (p.Val487Glu) | |
| 18 | g.23545034C>A | CA401772449 | NPC1 | c.1873G>T (p.Val625Leu) n.1787G>T c.951G>T c.1924G>T (p.Val642Leu) c.1459G>T (p.Val487Leu) | gnomAD v4 |
| 18 | g.23545034C>G | CA401772452 | NPC1 | c.1873G>C (p.Val625Leu) n.1787G>C c.951G>C c.1924G>C (p.Val642Leu) c.1459G>C (p.Val487Leu) | |
| 18 | g.23545034C>T | CA401772454 | NPC1 | c.1873G>A (p.Val625Ile) n.1787G>A c.951G>A c.1924G>A (p.Val642Ile) c.1459G>A (p.Val487Ile) | |
| 18 | g.23545034_23545041delinsCAACGGTG | CA2290168389 | NPC1 | c.1866_1873delinsCACCGTTG (p.Phe622=) n.1780_1787delinsCACCGTTG c.944_951delinsCACCGTTG c.1917_1924delinsCACCGTTG (p.Phe639=) c.1452_1459delinsCACCGTTG (p.Phe484=) | |
| 18 | g.23545035A>C | CA503521953 | NPC1 | c.1872T>G (p.Val624=) n.1786T>G c.950T>G c.1923T>G (p.Val641=) c.1458T>G (p.Val486=) | |
| 18 | g.23545035A>G | CA503521954 | NPC1 | c.1872T>C (p.Val624=) n.1786T>C c.950T>C c.1923T>C (p.Val641=) c.1458T>C (p.Val486=) | ClinVar dbSNP |
| 18 | g.23545035A>T | CA503521955 | NPC1 | c.1872T>A (p.Val624=) n.1786T>A c.950T>A c.1923T>A (p.Val641=) c.1458T>A (p.Val486=) | |
| 18 | g.23545037_23545043del | CA8913352 | NPC1 | c.1866_1872del (p.Phe622LeufsTer2) n.1780_1786del c.944_950del c.1917_1923del (p.Phe639LeufsTer2) c.1452_1458del (p.Phe484LeufsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23545036A= | CA2290168390 | NPC1 | c.1871T= (p.Val624=) n.1785T= c.949T= c.1922T= (p.Val641=) c.1457T= (p.Val486=) | |
| 18 | g.23545036A>C | CA401772471 | NPC1 | c.1871T>G (p.Val624Gly) n.1785T>G c.949T>G c.1922T>G (p.Val641Gly) c.1457T>G (p.Val486Gly) | |
| 18 | g.23545036A>G | CA8913353 | NPC1 | c.1871T>C (p.Val624Ala) n.1785T>C c.949T>C c.1922T>C (p.Val641Ala) c.1457T>C (p.Val486Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23545036A>T | CA401772474 | NPC1 | c.1871T>A (p.Val624Asp) n.1785T>A c.949T>A c.1922T>A (p.Val641Asp) c.1457T>A (p.Val486Asp) | |
| 18 | g.23545037C>A | CA401772486 | NPC1 | c.1870G>T (p.Val624Phe) n.1784G>T c.948G>T c.1921G>T (p.Val641Phe) c.1456G>T (p.Val486Phe) | |
| 18 | g.23545037C= | CA2290168391 | NPC1 | c.1870G= (p.Val624=) n.1784G= c.948G= c.1921G= (p.Val641=) c.1456G= (p.Val486=) | |
| 18 | g.23545037C>G | CA401772537 | NPC1 | c.1870G>C (p.Val624Leu) n.1784G>C c.948G>C c.1921G>C (p.Val641Leu) c.1456G>C (p.Val486Leu) | ClinVar |
| 18 | g.23545037C>T | CA8913354 | NPC1 | c.1870G>A (p.Val624Ile) n.1784G>A c.948G>A c.1921G>A (p.Val641Ile) c.1456G>A (p.Val486Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23545038G>A | CA503521957 | NPC1 | c.1869C>T (p.Thr623=) n.1783C>T c.947C>T c.1920C>T (p.Thr640=) c.1455C>T (p.Thr485=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 18 | g.23545038G>C | CA503521958 | NPC1 | c.1869C>G (p.Thr623=) n.1783C>G c.947C>G c.1920C>G (p.Thr640=) c.1455C>G (p.Thr485=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23545038G= | CA2290168392 | NPC1 | c.1869C= (p.Thr623=) n.1783C= c.947C= c.1920C= (p.Thr640=) c.1455C= (p.Thr485=) | |
| 18 | g.23545038G>T | CA503521959 | NPC1 | c.1869C>A (p.Thr623=) n.1783C>A c.947C>A c.1920C>A (p.Thr640=) c.1455C>A (p.Thr485=) | |
| 18 | g.23545039G>A | CA401772561 | NPC1 | c.1868C>T (p.Thr623Ile) n.1782C>T c.946C>T c.1919C>T (p.Thr640Ile) c.1454C>T (p.Thr485Ile) | |
| 18 | g.23545039G>C | CA401772560 | NPC1 | c.1868C>G (p.Thr623Ser) n.1782C>G c.946C>G c.1919C>G (p.Thr640Ser) c.1454C>G (p.Thr485Ser) | |
| 18 | g.23545039G= | CA2290168393 | NPC1 | c.1868C= (p.Thr623=) n.1782C= c.946C= c.1919C= (p.Thr640=) c.1454C= (p.Thr485=) | |
| 18 | g.23545039G>T | CA8913355 | NPC1 | c.1868C>A (p.Thr623Asn) n.1782C>A c.946C>A c.1919C>A (p.Thr640Asn) c.1454C>A (p.Thr485Asn) | dbSNP ExAC gnomAD v2 |
| 18 | g.23545040T>A | CA401772565 | NPC1 | c.1867A>T (p.Thr623Ser) n.1781A>T c.945A>T c.1918A>T (p.Thr640Ser) c.1453A>T (p.Thr485Ser) | |
| 18 | g.23545040T>C | CA401772571 | NPC1 | c.1867A>G (p.Thr623Ala) n.1781A>G c.945A>G c.1918A>G (p.Thr640Ala) c.1453A>G (p.Thr485Ala) | |
| 18 | g.23545040T>G | CA401772568 | NPC1 | c.1867A>C (p.Thr623Pro) n.1781A>C c.945A>C c.1918A>C (p.Thr640Pro) c.1453A>C (p.Thr485Pro) | |
| 18 | g.23545041G>A | CA503521962 | NPC1 | c.1866C>T (p.Phe622=) n.1780C>T c.944C>T c.1917C>T (p.Phe639=) c.1452C>T (p.Phe484=) | ClinVar |
| 18 | g.23545041G>C | CA401772574 | NPC1 | c.1866C>G (p.Phe622Leu) n.1780C>G c.944C>G c.1917C>G (p.Phe639Leu) c.1452C>G (p.Phe484Leu) | |
| 18 | g.23545041G>T | CA401772577 | NPC1 | c.1866C>A (p.Phe622Leu) n.1780C>A c.944C>A c.1917C>A (p.Phe639Leu) c.1452C>A (p.Phe484Leu) | |
| 18 | g.23545042A>C | CA401772580 | NPC1 | c.1865T>G (p.Phe622Cys) n.1779T>G c.943T>G c.1916T>G (p.Phe639Cys) c.1451T>G (p.Phe484Cys) | |
| 18 | g.23545042A>G | CA401772582 | NPC1 | c.1865T>C (p.Phe622Ser) n.1779T>C c.943T>C c.1916T>C (p.Phe639Ser) c.1451T>C (p.Phe484Ser) | |
| 18 | g.23545042A>T | CA401772585 | NPC1 | c.1865T>A (p.Phe622Tyr) n.1779T>A c.943T>A c.1916T>A (p.Phe639Tyr) c.1451T>A (p.Phe484Tyr) | |
| 18 | g.23545043A= | CA2290168394 | NPC1 | c.1864T= (p.Phe622=) n.1778T= c.942T= c.1915T= (p.Phe639=) c.1450T= (p.Phe484=) | |
| 18 | g.23545043A>C | CA401772588 | NPC1 | c.1864T>G (p.Phe622Val) n.1778T>G c.942T>G c.1915T>G (p.Phe639Val) c.1450T>G (p.Phe484Val) | dbSNP gnomAD v4 |
| 18 | g.23545043A>G | CA401772593 | NPC1 | c.1864T>C (p.Phe622Leu) n.1778T>C c.942T>C c.1915T>C (p.Phe639Leu) c.1450T>C (p.Phe484Leu) | |
| 18 | g.23545043A>T | CA401772596 | NPC1 | c.1864T>A (p.Phe622Ile) n.1778T>A c.942T>A c.1915T>A (p.Phe639Ile) c.1450T>A (p.Phe484Ile) | |
| 18 | g.23545044G>A | CA503521967 | NPC1 | c.1863C>T (p.Val621=) n.1777C>T c.941C>T c.1914C>T (p.Val638=) c.1449C>T (p.Val483=) | ClinVar |
| 18 | g.23545044G>C | CA8913356 | NPC1 | c.1863C>G (p.Val621=) n.1777C>G c.941C>G c.1914C>G (p.Val638=) c.1449C>G (p.Val483=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23545044G= | CA2290168395 | NPC1 | c.1863C= (p.Val621=) n.1777C= c.941C= c.1914C= (p.Val638=) c.1449C= (p.Val483=) | |
| 18 | g.23545044G>T | CA503521968 | NPC1 | c.1863C>A (p.Val621=) n.1777C>A c.941C>A c.1914C>A (p.Val638=) c.1449C>A (p.Val483=) | gnomAD v4 COSMIC |
| 18 | g.23545045A>C | CA401772607 | NPC1 | c.1862T>G (p.Val621Gly) n.1776T>G c.940T>G c.1913T>G (p.Val638Gly) c.1448T>G (p.Val483Gly) | |
| 18 | g.23545045A>G | CA401772610 | NPC1 | c.1862T>C (p.Val621Ala) n.1776T>C c.940T>C c.1913T>C (p.Val638Ala) c.1448T>C (p.Val483Ala) | |
| 18 | g.23545045A>T | CA401772612 | NPC1 | c.1862T>A (p.Val621Asp) n.1776T>A c.940T>A c.1913T>A (p.Val638Asp) c.1448T>A (p.Val483Asp) | |
| 18 | g.23545046C>A | CA401772633 | NPC1 | c.1861G>T (p.Val621Phe) n.1775G>T c.939G>T c.1912G>T (p.Val638Phe) c.1447G>T (p.Val483Phe) | |
| 18 | g.23545046C>G | CA401772620 | NPC1 | c.1861G>C (p.Val621Leu) n.1775G>C c.939G>C c.1912G>C (p.Val638Leu) c.1447G>C (p.Val483Leu) | |
| 18 | g.23545046C>T | CA401772618 | NPC1 | c.1861G>A (p.Val621Ile) n.1775G>A c.939G>A c.1912G>A (p.Val638Ile) c.1447G>A (p.Val483Ile) | |
| 18 | g.23545047A>C | CA401772639 | NPC1 | c.1860T>G (p.Asp620Glu) n.1774T>G c.938T>G c.1911T>G (p.Asp637Glu) c.1446T>G (p.Asp482Glu) | |
| 18 | g.23545047A>G | CA503522022 | NPC1 | c.1860T>C (p.Asp620=) n.1774T>C c.938T>C c.1911T>C (p.Asp637=) c.1446T>C (p.Asp482=) | gnomAD v4 |
| 18 | g.23545047A>T | CA401772641 | NPC1 | c.1860T>A (p.Asp620Glu) n.1774T>A c.938T>A c.1911T>A (p.Asp637Glu) c.1446T>A (p.Asp482Glu) | |
| 18 | g.23545048T>A | CA401772645 | NPC1 | c.1859A>T (p.Asp620Val) n.1773A>T c.937A>T c.1910A>T (p.Asp637Val) c.1445A>T (p.Asp482Val) | |
| 18 | g.23545048T>C | CA401772649 | NPC1 | c.1859A>G (p.Asp620Gly) n.1773A>G c.937A>G c.1910A>G (p.Asp637Gly) c.1445A>G (p.Asp482Gly) | dbSNP |
| 18 | g.23545048T>G | CA401772650 | NPC1 | c.1859A>C (p.Asp620Ala) n.1773A>C c.937A>C c.1910A>C (p.Asp637Ala) c.1445A>C (p.Asp482Ala) | |
| 18 | g.23545048T= | CA2290168396 | NPC1 | c.1859A= (p.Asp620=) n.1773A= c.937A= c.1910A= (p.Asp637=) c.1445A= (p.Asp482=) | |
| 18 | g.23545049C>A | CA401772651 | NPC1 | c.1858G>T (p.Asp620Tyr) n.1772G>T c.936G>T c.1909G>T (p.Asp637Tyr) c.1444G>T (p.Asp482Tyr) | |
| 18 | g.23545049C>G | CA401772652 | NPC1 | c.1858G>C (p.Asp620His) n.1772G>C c.936G>C c.1909G>C (p.Asp637His) c.1444G>C (p.Asp482His) | |
| 18 | g.23545049C>T | CA401772653 | NPC1 | c.1858G>A (p.Asp620Asn) n.1772G>A c.936G>A c.1909G>A (p.Asp637Asn) c.1444G>A (p.Asp482Asn) | |
| 18 | g.23545050A>C | CA401772654 | NPC1 | c.1857T>G (p.Ser619Arg) n.1771T>G c.935T>G c.1908T>G (p.Ser636Arg) c.1443T>G (p.Ser481Arg) | |
| 18 | g.23545050A>G | CA503522023 | NPC1 | c.1857T>C (p.Ser619=) n.1771T>C c.935T>C c.1908T>C (p.Ser636=) c.1443T>C (p.Ser481=) | |
| 18 | g.23545050A>T | CA401772655 | NPC1 | c.1857T>A (p.Ser619Arg) n.1771T>A c.935T>A c.1908T>A (p.Ser636Arg) c.1443T>A (p.Ser481Arg) | |
| 18 | g.23545051C>A | CA401772659 | NPC1 | c.1856G>T (p.Ser619Ile) n.1770G>T c.934G>T c.1907G>T (p.Ser636Ile) c.1442G>T (p.Ser481Ile) | gnomAD v4 |
| 18 | g.23545051C= | CA2290168397 | NPC1 | c.1856G= (p.Ser619=) n.1770G= c.934G= c.1907G= (p.Ser636=) c.1442G= (p.Ser481=) | |
| 18 | g.23545051C>G | CA401772663 | NPC1 | c.1856G>C (p.Ser619Thr) n.1770G>C c.934G>C c.1907G>C (p.Ser636Thr) c.1442G>C (p.Ser481Thr) | COSMIC COSMIC |
| 18 | g.23545051C>T | CA297060766 | NPC1 | c.1856G>A (p.Ser619Asn) n.1770G>A c.934G>A c.1907G>A (p.Ser636Asn) c.1442G>A (p.Ser481Asn) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23545052T>A | CA401772678 | NPC1 | c.1855A>T (p.Ser619Cys) n.1769A>T c.933A>T c.1906A>T (p.Ser636Cys) c.1441A>T (p.Ser481Cys) | |
| 18 | g.23545052T>C | CA401772680 | NPC1 | c.1855A>G (p.Ser619Gly) n.1769A>G c.933A>G c.1906A>G (p.Ser636Gly) c.1441A>G (p.Ser481Gly) | |
| 18 | g.23545052T>G | CA401772676 | NPC1 | c.1855A>C (p.Ser619Arg) n.1769A>C c.933A>C c.1906A>C (p.Ser636Arg) c.1441A>C (p.Ser481Arg) | |
| 18 | g.23545053G>A | CA503522024 | NPC1 | c.1854C>T (p.Asp618=) n.1768C>T c.932C>T c.1905C>T (p.Asp635=) c.1440C>T (p.Asp480=) | gnomAD v4 |
| 18 | g.23545053G>C | CA401772681 | NPC1 | c.1854C>G (p.Asp618Glu) n.1768C>G c.932C>G c.1905C>G (p.Asp635Glu) c.1440C>G (p.Asp480Glu) | |
| 18 | g.23545053G= | CA2290168398 | NPC1 | c.1854C= (p.Asp618=) n.1768C= c.932C= c.1905C= (p.Asp635=) c.1440C= (p.Asp480=) | |
| 18 | g.23545053G>T | CA401772685 | NPC1 | c.1854C>A (p.Asp618Glu) n.1768C>A c.932C>A c.1905C>A (p.Asp635Glu) c.1440C>A (p.Asp480Glu) | |
| 18 | g.23545054T>A | CA401772697 | NPC1 | c.1853A>T (p.Asp618Val) n.1767A>T c.931A>T c.1904A>T (p.Asp635Val) c.1439A>T (p.Asp480Val) | |
| 18 | g.23545054T>C | CA401772699 | NPC1 | c.1853A>G (p.Asp618Gly) n.1767A>G c.931A>G c.1904A>G (p.Asp635Gly) c.1439A>G (p.Asp480Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23545054T>G | CA401772706 | NPC1 | c.1853A>C (p.Asp618Ala) n.1767A>C c.931A>C c.1904A>C (p.Asp635Ala) c.1439A>C (p.Asp480Ala) | |
| 18 | g.23545054T= | CA2290168399 | NPC1 | c.1853A= (p.Asp618=) n.1767A= c.931A= c.1904A= (p.Asp635=) c.1439A= (p.Asp480=) | |
| 18 | g.23545056_23545057insGGGACTGGACCAGTGAACATCA | CA8913357 | NPC1 | c.1853_1854insTGTTCACTGGTCCAGTCCCTGA (p.Ser619ValfsTer7) n.1767_1768insTGTTCACTGGTCCAGTCCCTGA c.931_932insTGTTCACTGGTCCAGTCCCTGA c.1904_1905insTGTTCACTGGTCCAGTCCCTGA (p.Ser636ValfsTer7) c.1439_1440insTGTTCACTGGTCCAGTCCCTGA (p.Ser481ValfsTer7) | dbSNP ExAC |
| 18 | g.23545055C>A | CA401772710 | NPC1 | c.1852G>T (p.Asp618Tyr) n.1766G>T c.930G>T c.1903G>T (p.Asp635Tyr) c.1438G>T (p.Asp480Tyr) | |
| 18 | g.23545055C= | CA2290168400 | NPC1 | c.1852G= (p.Asp618=) n.1766G= c.930G= c.1903G= (p.Asp635=) c.1438G= (p.Asp480=) | |
| 18 | g.23545055C>G | CA8913358 | NPC1 | c.1852G>C (p.Asp618His) n.1766G>C c.930G>C c.1903G>C (p.Asp635His) c.1438G>C (p.Asp480His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23545055C>T | CA401772738 | NPC1 | c.1852G>A (p.Asp618Asn) n.1766G>A c.930G>A c.1903G>A (p.Asp635Asn) c.1438G>A (p.Asp480Asn) | dbSNP |
| 18 | g.23545056A>C | CA401772751 | NPC1 | c.1851T>G (p.Ser617Arg) n.1765T>G c.929T>G c.1902T>G (p.Ser634Arg) c.1437T>G (p.Ser479Arg) | |
| 18 | g.23545056A>G | CA503522025 | NPC1 | c.1851T>C (p.Ser617=) n.1765T>C c.929T>C c.1902T>C (p.Ser634=) c.1437T>C (p.Ser479=) | |
| 18 | g.23545056A>T | CA401772772 | NPC1 | c.1851T>A (p.Ser617Arg) n.1765T>A c.929T>A c.1902T>A (p.Ser634Arg) c.1437T>A (p.Ser479Arg) | |
| 18 | g.23545057C>A | CA401772783 | NPC1 | c.1850G>T (p.Ser617Ile) n.1764G>T c.928G>T c.1901G>T (p.Ser634Ile) c.1436G>T (p.Ser479Ile) | |
| 18 | g.23545057C= | CA2290168401 | NPC1 | c.1850G= (p.Ser617=) n.1764G= c.928G= c.1901G= (p.Ser634=) c.1436G= (p.Ser479=) | |
| 18 | g.23545057C>G | CA401772781 | NPC1 | c.1850G>C (p.Ser617Thr) n.1764G>C c.928G>C c.1901G>C (p.Ser634Thr) c.1436G>C (p.Ser479Thr) | |
| 18 | g.23545057C>T | CA401772779 | NPC1 | c.1850G>A (p.Ser617Asn) n.1764G>A c.928G>A c.1901G>A (p.Ser634Asn) c.1436G>A (p.Ser479Asn) | |
| 18 | g.23545058T>A | CA401772785 | NPC1 | c.1849A>T (p.Ser617Cys) n.1763A>T c.927A>T c.1900A>T (p.Ser634Cys) c.1435A>T (p.Ser479Cys) | |
| 18 | g.23545058T>C | CA401772789 | NPC1 | c.1849A>G (p.Ser617Gly) n.1763A>G c.927A>G c.1900A>G (p.Ser634Gly) c.1435A>G (p.Ser479Gly) | dbSNP |
| 18 | g.23545058T>G | CA401772793 | NPC1 | c.1849A>C (p.Ser617Arg) n.1763A>C c.927A>C c.1900A>C (p.Ser634Arg) c.1435A>C (p.Ser479Arg) | |
| 18 | g.23545058T= | CA2290168402 | NPC1 | c.1849A= (p.Ser617=) n.1763A= c.927A= c.1900A= (p.Ser634=) c.1435A= (p.Ser479=) | |
| 18 | g.23545060dup | CA916083639 | NPC1 | c.1849dup (p.Ser617LysfsTer2) n.1763dup c.927dup c.1900dup (p.Ser634LysfsTer2) c.1435dup (p.Ser479LysfsTer2) | ClinVar dbSNP |
| 18 | g.23545059T>A | CA401772794 | NPC1 | c.1848A>T (p.Glu616Asp) n.1762A>T c.926A>T c.1899A>T (p.Glu633Asp) c.1434A>T (p.Glu478Asp) | |
| 18 | g.23545059T>C | CA8913359 | NPC1 | c.1848A>G (p.Glu616=) n.1762A>G c.926A>G c.1899A>G (p.Glu633=) c.1434A>G (p.Glu478=) | dbSNP ExAC |
| 18 | g.23545059T>G | CA401772797 | NPC1 | c.1848A>C (p.Glu616Asp) n.1762A>C c.926A>C c.1899A>C (p.Glu633Asp) c.1434A>C (p.Glu478Asp) | |
| 18 | g.23545059T= | CA2290168403 | NPC1 | c.1848A= (p.Glu616=) n.1762A= c.926A= c.1899A= (p.Glu633=) c.1434A= (p.Glu478=) | |
| 18 | g.23545060T>A | CA401772801 | NPC1 | c.1847A>T (p.Glu616Val) n.1761A>T c.925A>T c.1898A>T (p.Glu633Val) c.1433A>T (p.Glu478Val) | |
| 18 | g.23545060T>C | CA401772803 | NPC1 | c.1847A>G (p.Glu616Gly) n.1761A>G c.925A>G c.1898A>G (p.Glu633Gly) c.1433A>G (p.Glu478Gly) | gnomAD v4 |
| 18 | g.23545060T>G | CA401772805 | NPC1 | c.1847A>C (p.Glu616Ala) n.1761A>C c.925A>C c.1898A>C (p.Glu633Ala) c.1433A>C (p.Glu478Ala) | |
| 18 | g.23545061C>A | CA401772810 | NPC1 | c.1846G>T (p.Glu616Ter) n.1760G>T c.924G>T c.1897G>T (p.Glu633Ter) c.1432G>T (p.Glu478Ter) | |
| 18 | g.23545061C>G | CA401772815 | NPC1 | c.1846G>C (p.Glu616Gln) n.1760G>C c.924G>C c.1897G>C (p.Glu633Gln) c.1432G>C (p.Glu478Gln) | |
| 18 | g.23545061C>T | CA401772834 | NPC1 | c.1846G>A (p.Glu616Lys) n.1760G>A c.924G>A c.1897G>A (p.Glu633Lys) c.1432G>A (p.Glu478Lys) | |
| 18 | g.23545062A>C | CA503522026 | NPC1 | c.1845T>G (p.Arg615=) n.1759T>G c.923T>G c.1896T>G (p.Arg632=) c.1431T>G (p.Arg477=) | dbSNP |
| 18 | g.23545062A>G | CA503522027 | NPC1 | c.1845T>C (p.Arg615=) n.1759T>C c.923T>C c.1896T>C (p.Arg632=) c.1431T>C (p.Arg477=) | |
| 18 | g.23545062A>T | CA503522028 | NPC1 | c.1845T>A (p.Arg615=) n.1759T>A c.923T>A c.1896T>A (p.Arg632=) c.1431T>A (p.Arg477=) | |
| 18 | g.23545062_23545063delinsAC | CA2290168404 | NPC1 | c.1844_1845delinsGT (p.Arg615=) n.1758_1759delinsGT c.922_923delinsGT c.1895_1896delinsGT (p.Arg632=) c.1430_1431delinsGT (p.Arg477=) |