Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23544960_23545032delCA2695227328NPC1c.1875_1947del (p.Ile626TrpfsTer7)
n.1789_1861del
c.953_1025del
c.1926_1998del (p.Ile643TrpfsTer7)
c.1461_1533del (p.Ile488TrpfsTer7)
18g.23545006_23545013dupCA2576471009NPC1c.1895_1902dup (p.Ile635PhefsTer6)
n.1809_1816dup
c.973_980dup
c.1946_1953dup (p.Ile652PhefsTer6)
c.1481_1488dup (p.Ile497PhefsTer6)
18g.23545007A>CCA401772237NPC1c.1900T>G (p.Tyr634Asp)
n.1814T>G
c.978T>G
c.1951T>G (p.Tyr651Asp)
c.1486T>G (p.Tyr496Asp)
18g.23545007A>GCA401772238NPC1c.1900T>C (p.Tyr634His)
n.1814T>C
c.978T>C
c.1951T>C (p.Tyr651His)
c.1486T>C (p.Tyr496His)
18g.23545007A>TCA401772240NPC1c.1900T>A (p.Tyr634Asn)
n.1814T>A
c.978T>A
c.1951T>A (p.Tyr651Asn)
c.1486T>A (p.Tyr496Asn)
 ClinVar
18g.23545008T>ACA503521920NPC1c.1899A>T (p.Leu633=)
n.1813A>T
c.977A>T
c.1950A>T (p.Leu650=)
c.1485A>T (p.Leu495=)
18g.23545008T>CCA503521921NPC1c.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
18g.23545008T>GCA503521919NPC1c.1899A>C (p.Leu633=)
n.1813A>C
c.977A>C
c.1950A>C (p.Leu650=)
c.1485A>C (p.Leu495=)
18g.23545008T=CA2290168380NPC1c.1899A= (p.Leu633=)
n.1813A=
c.977A=
c.1950A= (p.Leu650=)
c.1485A= (p.Leu495=)
18g.23545009A>CCA401772243NPC1c.1898T>G (p.Leu633Arg)
n.1812T>G
c.976T>G
c.1949T>G (p.Leu650Arg)
c.1484T>G (p.Leu495Arg)
18g.23545009A>GCA401772245NPC1c.1898T>C (p.Leu633Pro)
n.1812T>C
c.976T>C
c.1949T>C (p.Leu650Pro)
c.1484T>C (p.Leu495Pro)
18g.23545009A>TCA401772246NPC1c.1898T>A (p.Leu633Gln)
n.1812T>A
c.976T>A
c.1949T>A (p.Leu650Gln)
c.1484T>A (p.Leu495Gln)
18g.23545010G>ACA503521922NPC1c.1897C>T (p.Leu633=)
n.1811C>T
c.975C>T
c.1948C>T (p.Leu650=)
c.1483C>T (p.Leu495=)
18g.23545010G>CCA401772249NPC1c.1897C>G (p.Leu633Val)
n.1811C>G
c.975C>G
c.1948C>G (p.Leu650Val)
c.1483C>G (p.Leu495Val)
 dbSNP gnomAD v4
18g.23545010G=CA2290168381NPC1c.1897C= (p.Leu633=)
n.1811C=
c.975C=
c.1948C= (p.Leu650=)
c.1483C= (p.Leu495=)
18g.23545010G>TCA401772251NPC1c.1897C>A (p.Leu633Ile)
n.1811C>A
c.975C>A
c.1948C>A (p.Leu650Ile)
c.1483C>A (p.Leu495Ile)
18g.23545011A>CCA401772255NPC1c.1896T>G (p.Phe632Leu)
n.1810T>G
c.974T>G
c.1947T>G (p.Phe649Leu)
c.1482T>G (p.Phe494Leu)
18g.23545011A>GCA503521923NPC1c.1896T>C (p.Phe632=)
n.1810T>C
c.974T>C
c.1947T>C (p.Phe649=)
c.1482T>C (p.Phe494=)
18g.23545011A>TCA401772257NPC1c.1896T>A (p.Phe632Leu)
n.1810T>A
c.974T>A
c.1947T>A (p.Phe649Leu)
c.1482T>A (p.Phe494Leu)
18g.23545012A>CCA401772259NPC1c.1895T>G (p.Phe632Cys)
n.1809T>G
c.973T>G
c.1946T>G (p.Phe649Cys)
c.1481T>G (p.Phe494Cys)
18g.23545012A>GCA401772261NPC1c.1895T>C (p.Phe632Ser)
n.1809T>C
c.973T>C
c.1946T>C (p.Phe649Ser)
c.1481T>C (p.Phe494Ser)
18g.23545012A>TCA401772263NPC1c.1895T>A (p.Phe632Tyr)
n.1809T>A
c.973T>A
c.1946T>A (p.Phe649Tyr)
c.1481T>A (p.Phe494Tyr)
18g.23545013A>CCA401772269NPC1c.1894T>G (p.Phe632Val)
n.1808T>G
c.972T>G
c.1945T>G (p.Phe649Val)
c.1480T>G (p.Phe494Val)
18g.23545013A>GCA401772271NPC1c.1894T>C (p.Phe632Leu)
n.1808T>C
c.972T>C
c.1945T>C (p.Phe649Leu)
c.1480T>C (p.Phe494Leu)
18g.23545013A>TCA401772267NPC1c.1894T>A (p.Phe632Ile)
n.1808T>A
c.972T>A
c.1945T>A (p.Phe649Ile)
c.1480T>A (p.Phe494Ile)
18g.23545014C>ACA401772275NPC1c.1893G>T (p.Met631Ile)
n.1807G>T
c.971G>T
c.1944G>T (p.Met648Ile)
c.1479G>T (p.Met493Ile)
18g.23545014C>GCA401772279NPC1c.1893G>C (p.Met631Ile)
n.1807G>C
c.971G>C
c.1944G>C (p.Met648Ile)
c.1479G>C (p.Met493Ile)
18g.23545014C>TCA401772277NPC1c.1893G>A (p.Met631Ile)
n.1807G>A
c.971G>A
c.1944G>A (p.Met648Ile)
c.1479G>A (p.Met493Ile)
18g.23545015A=CA2290168382NPC1c.1892T= (p.Met631=)
n.1806T=
c.970T=
c.1943T= (p.Met648=)
c.1478T= (p.Met493=)
18g.23545015A>CCA401772280NPC1c.1892T>G (p.Met631Arg)
n.1806T>G
c.970T>G
c.1943T>G (p.Met648Arg)
c.1478T>G (p.Met493Arg)
 gnomAD v4
18g.23545015A>GCA401772281NPC1c.1892T>C (p.Met631Thr)
n.1806T>C
c.970T>C
c.1943T>C (p.Met648Thr)
c.1478T>C (p.Met493Thr)
 dbSNP gnomAD v4
18g.23545015A>TCA401772283NPC1c.1892T>A (p.Met631Lys)
n.1806T>A
c.970T>A
c.1943T>A (p.Met648Lys)
c.1478T>A (p.Met493Lys)
18g.23545016T>ACA401772286NPC1c.1891A>T (p.Met631Leu)
n.1805A>T
c.969A>T
c.1942A>T (p.Met648Leu)
c.1477A>T (p.Met493Leu)
18g.23545016T>CCA401772288NPC1c.1891A>G (p.Met631Val)
n.1805A>G
c.969A>G
c.1942A>G (p.Met648Val)
c.1477A>G (p.Met493Val)
18g.23545016T>GCA401772290NPC1c.1891A>C (p.Met631Leu)
n.1805A>C
c.969A>C
c.1942A>C (p.Met648Leu)
c.1477A>C (p.Met493Leu)
18g.23545017G>ACA503521930NPC1c.1890C>T (p.Ile630=)
n.1804C>T
c.968C>T
c.1941C>T (p.Ile647=)
c.1476C>T (p.Ile492=)
 gnomAD v4
18g.23545017G>CCA401772292NPC1c.1890C>G (p.Ile630Met)
n.1804C>G
c.968C>G
c.1941C>G (p.Ile647Met)
c.1476C>G (p.Ile492Met)
18g.23545017G>TCA503521931NPC1c.1890C>A (p.Ile630=)
n.1804C>A
c.968C>A
c.1941C>A (p.Ile647=)
c.1476C>A (p.Ile492=)
18g.23545018A=CA2290168383NPC1c.1889T= (p.Ile630=)
n.1803T=
c.967T=
c.1940T= (p.Ile647=)
c.1475T= (p.Ile492=)
18g.23545018A>CCA401772295NPC1c.1889T>G (p.Ile630Ser)
n.1803T>G
c.967T>G
c.1940T>G (p.Ile647Ser)
c.1475T>G (p.Ile492Ser)
18g.23545018A>GCA8913349NPC1c.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
18g.23545018A>TCA401772299NPC1c.1889T>A (p.Ile630Asn)
n.1803T>A
c.967T>A
c.1940T>A (p.Ile647Asn)
c.1475T>A (p.Ile492Asn)
18g.23545019T>ACA401772302NPC1c.1888A>T (p.Ile630Phe)
n.1802A>T
c.966A>T
c.1939A>T (p.Ile647Phe)
c.1474A>T (p.Ile492Phe)
18g.23545019T>CCA401772304NPC1c.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
18g.23545019T>GCA401772306NPC1c.1888A>C (p.Ile630Leu)
n.1802A>C
c.966A>C
c.1939A>C (p.Ile647Leu)
c.1474A>C (p.Ile492Leu)
18g.23545019T=CA2290168384NPC1c.1888A= (p.Ile630=)
n.1802A=
c.966A=
c.1939A= (p.Ile647=)
c.1474A= (p.Ile492=)
18g.23545020G>ACA503521933NPC1c.1887C>T (p.Ala629=)
n.1801C>T
c.965C>T
c.1938C>T (p.Ala646=)
c.1473C>T (p.Ala491=)
 ClinVar gnomAD v4
18g.23545020G>CCA503521934NPC1c.1887C>G (p.Ala629=)
n.1801C>G
c.965C>G
c.1938C>G (p.Ala646=)
c.1473C>G (p.Ala491=)
18g.23545020G>TCA503521935NPC1c.1887C>A (p.Ala629=)
n.1801C>A
c.965C>A
c.1938C>A (p.Ala646=)
c.1473C>A (p.Ala491=)
18g.23545021G>ACA401772307NPC1c.1886C>T (p.Ala629Val)
n.1800C>T
c.964C>T
c.1937C>T (p.Ala646Val)
c.1472C>T (p.Ala491Val)
 gnomAD v4
18g.23545021G>CCA401772312NPC1c.1886C>G (p.Ala629Gly)
n.1800C>G
c.964C>G
c.1937C>G (p.Ala646Gly)
c.1472C>G (p.Ala491Gly)
18g.23545021G>TCA401772309NPC1c.1886C>A (p.Ala629Asp)
n.1800C>A
c.964C>A
c.1937C>A (p.Ala646Asp)
c.1472C>A (p.Ala491Asp)
18g.23545022C>ACA401772317NPC1c.1885G>T (p.Ala629Ser)
n.1799G>T
c.963G>T
c.1936G>T (p.Ala646Ser)
c.1471G>T (p.Ala491Ser)
18g.23545022C>GCA401772319NPC1c.1885G>C (p.Ala629Pro)
n.1799G>C
c.963G>C
c.1936G>C (p.Ala646Pro)
c.1471G>C (p.Ala491Pro)
18g.23545022C>TCA401772323NPC1c.1885G>A (p.Ala629Thr)
n.1799G>A
c.963G>A
c.1936G>A (p.Ala646Thr)
c.1471G>A (p.Ala491Thr)
18g.23545023A>CCA401772326NPC1c.1884T>G (p.Tyr628Ter)
n.1798T>G
c.962T>G
c.1935T>G (p.Tyr645Ter)
c.1470T>G (p.Tyr490Ter)
18g.23545023A>GCA503521937NPC1c.1884T>C (p.Tyr628=)
n.1798T>C
c.962T>C
c.1935T>C (p.Tyr645=)
c.1470T>C (p.Tyr490=)
18g.23545023A>TCA401772329NPC1c.1884T>A (p.Tyr628Ter)
n.1798T>A
c.962T>A
c.1935T>A (p.Tyr645Ter)
c.1470T>A (p.Tyr490Ter)
18g.23545024T>ACA401772335NPC1c.1883A>T (p.Tyr628Phe)
n.1797A>T
c.961A>T
c.1934A>T (p.Tyr645Phe)
c.1469A>T (p.Tyr490Phe)
18g.23545024T>CCA401772338NPC1c.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
18g.23545024T>GCA401772341NPC1c.1883A>C (p.Tyr628Ser)
n.1797A>C
c.961A>C
c.1934A>C (p.Tyr645Ser)
c.1469A>C (p.Tyr490Ser)
 ClinVar dbSNP
18g.23545024T=CA2290168385NPC1c.1883A= (p.Tyr628=)
n.1797A=
c.961A=
c.1934A= (p.Tyr645=)
c.1469A= (p.Tyr490=)
18g.23545025A=CA2290168386NPC1c.1882T= (p.Tyr628=)
n.1796T=
c.960T=
c.1933T= (p.Tyr645=)
c.1468T= (p.Tyr490=)
18g.23545025A>CCA401772344NPC1c.1882T>G (p.Tyr628Asp)
n.1796T>G
c.960T>G
c.1933T>G (p.Tyr645Asp)
c.1468T>G (p.Tyr490Asp)
18g.23545025A>GCA8913350NPC1c.1882T>C (p.Tyr628His)
n.1796T>C
c.960T>C
c.1933T>C (p.Tyr645His)
c.1468T>C (p.Tyr490His)
 dbSNP ExAC gnomAD v2
18g.23545025A>TCA401772349NPC1c.1882T>A (p.Tyr628Asn)
n.1796T>A
c.960T>A
c.1933T>A (p.Tyr645Asn)
c.1468T>A (p.Tyr490Asn)
18g.23545026G>ACA503521941NPC1c.1881C>T (p.Ser627=)
n.1795C>T
c.959C>T
c.1932C>T (p.Ser644=)
c.1467C>T (p.Ser489=)
18g.23545026G>CCA401772352NPC1c.1881C>G (p.Ser627Arg)
n.1795C>G
c.959C>G
c.1932C>G (p.Ser644Arg)
c.1467C>G (p.Ser489Arg)
18g.23545026G>TCA401772355NPC1c.1881C>A (p.Ser627Arg)
n.1795C>A
c.959C>A
c.1932C>A (p.Ser644Arg)
c.1467C>A (p.Ser489Arg)
18g.23545027C>ACA401772360NPC1c.1880G>T (p.Ser627Ile)
n.1794G>T
c.958G>T
c.1931G>T (p.Ser644Ile)
c.1466G>T (p.Ser489Ile)
18g.23545027C>GCA401772362NPC1c.1880G>C (p.Ser627Thr)
n.1794G>C
c.958G>C
c.1931G>C (p.Ser644Thr)
c.1466G>C (p.Ser489Thr)
18g.23545027C>TCA401772366NPC1c.1880G>A (p.Ser627Asn)
n.1794G>A
c.958G>A
c.1931G>A (p.Ser644Asn)
c.1466G>A (p.Ser489Asn)
18g.23545028T>ACA401772370NPC1c.1879A>T (p.Ser627Cys)
n.1793A>T
c.957A>T
c.1930A>T (p.Ser644Cys)
c.1465A>T (p.Ser489Cys)
18g.23545028T>CCA401772387NPC1c.1879A>G (p.Ser627Gly)
n.1793A>G
c.957A>G
c.1930A>G (p.Ser644Gly)
c.1465A>G (p.Ser489Gly)
18g.23545028T>GCA401772390NPC1c.1879A>C (p.Ser627Arg)
n.1793A>C
c.957A>C
c.1930A>C (p.Ser644Arg)
c.1465A>C (p.Ser489Arg)
18g.23545029A=CA2290168387NPC1c.1878T= (p.Ile626=)
n.1792T=
c.956T=
c.1929T= (p.Ile643=)
c.1464T= (p.Ile488=)
18g.23545029A>CCA401772394NPC1c.1878T>G (p.Ile626Met)
n.1792T>G
c.956T>G
c.1929T>G (p.Ile643Met)
c.1464T>G (p.Ile488Met)
18g.23545029A>GCA503521944NPC1c.1878T>C (p.Ile626=)
n.1792T>C
c.956T>C
c.1929T>C (p.Ile643=)
c.1464T>C (p.Ile488=)
 ClinVar dbSNP gnomAD v4
18g.23545029A>TCA503521945NPC1c.1878T>A (p.Ile626=)
n.1792T>A
c.956T>A
c.1929T>A (p.Ile643=)
c.1464T>A (p.Ile488=)
18g.23545030A>CCA401772397NPC1c.1877T>G (p.Ile626Ser)
n.1791T>G
c.955T>G
c.1928T>G (p.Ile643Ser)
c.1463T>G (p.Ile488Ser)
 gnomAD v4
18g.23545030A>GCA401772411NPC1c.1877T>C (p.Ile626Thr)
n.1791T>C
c.955T>C
c.1928T>C (p.Ile643Thr)
c.1463T>C (p.Ile488Thr)
 gnomAD v4
18g.23545030A>TCA401772402NPC1c.1877T>A (p.Ile626Asn)
n.1791T>A
c.955T>A
c.1928T>A (p.Ile643Asn)
c.1463T>A (p.Ile488Asn)
18g.23545031T>ACA401772417NPC1c.1876A>T (p.Ile626Phe)
n.1790A>T
c.954A>T
c.1927A>T (p.Ile643Phe)
c.1462A>T (p.Ile488Phe)
18g.23545031T>CCA401772421NPC1c.1876A>G (p.Ile626Val)
n.1790A>G
c.954A>G
c.1927A>G (p.Ile643Val)
c.1462A>G (p.Ile488Val)
 gnomAD v4
18g.23545031T>GCA401772425NPC1c.1876A>C (p.Ile626Leu)
n.1790A>C
c.954A>C
c.1927A>C (p.Ile643Leu)
c.1462A>C (p.Ile488Leu)
 COSMIC
18g.23545032T>ACA503521947NPC1c.1875A>T (p.Val625=)
n.1789A>T
c.953A>T
c.1926A>T (p.Val642=)
c.1461A>T (p.Val487=)
18g.23545032T>CCA8913351NPC1c.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
18g.23545032T>GCA503521948NPC1c.1875A>C (p.Val625=)
n.1789A>C
c.953A>C
c.1926A>C (p.Val642=)
c.1461A>C (p.Val487=)
18g.23545032T=CA2290168388NPC1c.1875A= (p.Val625=)
n.1789A=
c.953A=
c.1926A= (p.Val642=)
c.1461A= (p.Val487=)
18g.23545033A>CCA401772433NPC1c.1874T>G (p.Val625Gly)
n.1788T>G
c.952T>G
c.1925T>G (p.Val642Gly)
c.1460T>G (p.Val487Gly)
18g.23545033A>GCA401772444NPC1c.1874T>C (p.Val625Ala)
n.1788T>C
c.952T>C
c.1925T>C (p.Val642Ala)
c.1460T>C (p.Val487Ala)
18g.23545033A>TCA401772441NPC1c.1874T>A (p.Val625Glu)
n.1788T>A
c.952T>A
c.1925T>A (p.Val642Glu)
c.1460T>A (p.Val487Glu)
18g.23545034C>ACA401772449NPC1c.1873G>T (p.Val625Leu)
n.1787G>T
c.951G>T
c.1924G>T (p.Val642Leu)
c.1459G>T (p.Val487Leu)
 gnomAD v4
18g.23545034C>GCA401772452NPC1c.1873G>C (p.Val625Leu)
n.1787G>C
c.951G>C
c.1924G>C (p.Val642Leu)
c.1459G>C (p.Val487Leu)
18g.23545034C>TCA401772454NPC1c.1873G>A (p.Val625Ile)
n.1787G>A
c.951G>A
c.1924G>A (p.Val642Ile)
c.1459G>A (p.Val487Ile)
18g.23545034_23545041delinsCAACGGTGCA2290168389NPC1c.1866_1873delinsCACCGTTG (p.Phe622=)
n.1780_1787delinsCACCGTTG
c.944_951delinsCACCGTTG
c.1917_1924delinsCACCGTTG (p.Phe639=)
c.1452_1459delinsCACCGTTG (p.Phe484=)
18g.23545035A>CCA503521953NPC1c.1872T>G (p.Val624=)
n.1786T>G
c.950T>G
c.1923T>G (p.Val641=)
c.1458T>G (p.Val486=)
18g.23545035A>GCA503521954NPC1c.1872T>C (p.Val624=)
n.1786T>C
c.950T>C
c.1923T>C (p.Val641=)
c.1458T>C (p.Val486=)
 ClinVar dbSNP
18g.23545035A>TCA503521955NPC1c.1872T>A (p.Val624=)
n.1786T>A
c.950T>A
c.1923T>A (p.Val641=)
c.1458T>A (p.Val486=)
18g.23545037_23545043delCA8913352NPC1c.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
18g.23545036A=CA2290168390NPC1c.1871T= (p.Val624=)
n.1785T=
c.949T=
c.1922T= (p.Val641=)
c.1457T= (p.Val486=)
18g.23545036A>CCA401772471NPC1c.1871T>G (p.Val624Gly)
n.1785T>G
c.949T>G
c.1922T>G (p.Val641Gly)
c.1457T>G (p.Val486Gly)
18g.23545036A>GCA8913353NPC1c.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
18g.23545036A>TCA401772474NPC1c.1871T>A (p.Val624Asp)
n.1785T>A
c.949T>A
c.1922T>A (p.Val641Asp)
c.1457T>A (p.Val486Asp)
18g.23545037C>ACA401772486NPC1c.1870G>T (p.Val624Phe)
n.1784G>T
c.948G>T
c.1921G>T (p.Val641Phe)
c.1456G>T (p.Val486Phe)
18g.23545037C=CA2290168391NPC1c.1870G= (p.Val624=)
n.1784G=
c.948G=
c.1921G= (p.Val641=)
c.1456G= (p.Val486=)
18g.23545037C>GCA401772537NPC1c.1870G>C (p.Val624Leu)
n.1784G>C
c.948G>C
c.1921G>C (p.Val641Leu)
c.1456G>C (p.Val486Leu)
 ClinVar
18g.23545037C>TCA8913354NPC1c.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
18g.23545038G>ACA503521957NPC1c.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
18g.23545038G>CCA503521958NPC1c.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
18g.23545038G=CA2290168392NPC1c.1869C= (p.Thr623=)
n.1783C=
c.947C=
c.1920C= (p.Thr640=)
c.1455C= (p.Thr485=)
18g.23545038G>TCA503521959NPC1c.1869C>A (p.Thr623=)
n.1783C>A
c.947C>A
c.1920C>A (p.Thr640=)
c.1455C>A (p.Thr485=)
18g.23545039G>ACA401772561NPC1c.1868C>T (p.Thr623Ile)
n.1782C>T
c.946C>T
c.1919C>T (p.Thr640Ile)
c.1454C>T (p.Thr485Ile)
18g.23545039G>CCA401772560NPC1c.1868C>G (p.Thr623Ser)
n.1782C>G
c.946C>G
c.1919C>G (p.Thr640Ser)
c.1454C>G (p.Thr485Ser)
18g.23545039G=CA2290168393NPC1c.1868C= (p.Thr623=)
n.1782C=
c.946C=
c.1919C= (p.Thr640=)
c.1454C= (p.Thr485=)
18g.23545039G>TCA8913355NPC1c.1868C>A (p.Thr623Asn)
n.1782C>A
c.946C>A
c.1919C>A (p.Thr640Asn)
c.1454C>A (p.Thr485Asn)
 dbSNP ExAC gnomAD v2
18g.23545040T>ACA401772565NPC1c.1867A>T (p.Thr623Ser)
n.1781A>T
c.945A>T
c.1918A>T (p.Thr640Ser)
c.1453A>T (p.Thr485Ser)
18g.23545040T>CCA401772571NPC1c.1867A>G (p.Thr623Ala)
n.1781A>G
c.945A>G
c.1918A>G (p.Thr640Ala)
c.1453A>G (p.Thr485Ala)
18g.23545040T>GCA401772568NPC1c.1867A>C (p.Thr623Pro)
n.1781A>C
c.945A>C
c.1918A>C (p.Thr640Pro)
c.1453A>C (p.Thr485Pro)
18g.23545041G>ACA503521962NPC1c.1866C>T (p.Phe622=)
n.1780C>T
c.944C>T
c.1917C>T (p.Phe639=)
c.1452C>T (p.Phe484=)
 ClinVar
18g.23545041G>CCA401772574NPC1c.1866C>G (p.Phe622Leu)
n.1780C>G
c.944C>G
c.1917C>G (p.Phe639Leu)
c.1452C>G (p.Phe484Leu)
18g.23545041G>TCA401772577NPC1c.1866C>A (p.Phe622Leu)
n.1780C>A
c.944C>A
c.1917C>A (p.Phe639Leu)
c.1452C>A (p.Phe484Leu)
18g.23545042A>CCA401772580NPC1c.1865T>G (p.Phe622Cys)
n.1779T>G
c.943T>G
c.1916T>G (p.Phe639Cys)
c.1451T>G (p.Phe484Cys)
18g.23545042A>GCA401772582NPC1c.1865T>C (p.Phe622Ser)
n.1779T>C
c.943T>C
c.1916T>C (p.Phe639Ser)
c.1451T>C (p.Phe484Ser)
18g.23545042A>TCA401772585NPC1c.1865T>A (p.Phe622Tyr)
n.1779T>A
c.943T>A
c.1916T>A (p.Phe639Tyr)
c.1451T>A (p.Phe484Tyr)
18g.23545043A=CA2290168394NPC1c.1864T= (p.Phe622=)
n.1778T=
c.942T=
c.1915T= (p.Phe639=)
c.1450T= (p.Phe484=)
18g.23545043A>CCA401772588NPC1c.1864T>G (p.Phe622Val)
n.1778T>G
c.942T>G
c.1915T>G (p.Phe639Val)
c.1450T>G (p.Phe484Val)
 dbSNP gnomAD v4
18g.23545043A>GCA401772593NPC1c.1864T>C (p.Phe622Leu)
n.1778T>C
c.942T>C
c.1915T>C (p.Phe639Leu)
c.1450T>C (p.Phe484Leu)
18g.23545043A>TCA401772596NPC1c.1864T>A (p.Phe622Ile)
n.1778T>A
c.942T>A
c.1915T>A (p.Phe639Ile)
c.1450T>A (p.Phe484Ile)
18g.23545044G>ACA503521967NPC1c.1863C>T (p.Val621=)
n.1777C>T
c.941C>T
c.1914C>T (p.Val638=)
c.1449C>T (p.Val483=)
 ClinVar
18g.23545044G>CCA8913356NPC1c.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
18g.23545044G=CA2290168395NPC1c.1863C= (p.Val621=)
n.1777C=
c.941C=
c.1914C= (p.Val638=)
c.1449C= (p.Val483=)
18g.23545044G>TCA503521968NPC1c.1863C>A (p.Val621=)
n.1777C>A
c.941C>A
c.1914C>A (p.Val638=)
c.1449C>A (p.Val483=)
 gnomAD v4 COSMIC
18g.23545045A>CCA401772607NPC1c.1862T>G (p.Val621Gly)
n.1776T>G
c.940T>G
c.1913T>G (p.Val638Gly)
c.1448T>G (p.Val483Gly)
18g.23545045A>GCA401772610NPC1c.1862T>C (p.Val621Ala)
n.1776T>C
c.940T>C
c.1913T>C (p.Val638Ala)
c.1448T>C (p.Val483Ala)
18g.23545045A>TCA401772612NPC1c.1862T>A (p.Val621Asp)
n.1776T>A
c.940T>A
c.1913T>A (p.Val638Asp)
c.1448T>A (p.Val483Asp)
18g.23545046C>ACA401772633NPC1c.1861G>T (p.Val621Phe)
n.1775G>T
c.939G>T
c.1912G>T (p.Val638Phe)
c.1447G>T (p.Val483Phe)
18g.23545046C>GCA401772620NPC1c.1861G>C (p.Val621Leu)
n.1775G>C
c.939G>C
c.1912G>C (p.Val638Leu)
c.1447G>C (p.Val483Leu)
18g.23545046C>TCA401772618NPC1c.1861G>A (p.Val621Ile)
n.1775G>A
c.939G>A
c.1912G>A (p.Val638Ile)
c.1447G>A (p.Val483Ile)
18g.23545047A>CCA401772639NPC1c.1860T>G (p.Asp620Glu)
n.1774T>G
c.938T>G
c.1911T>G (p.Asp637Glu)
c.1446T>G (p.Asp482Glu)
18g.23545047A>GCA503522022NPC1c.1860T>C (p.Asp620=)
n.1774T>C
c.938T>C
c.1911T>C (p.Asp637=)
c.1446T>C (p.Asp482=)
 gnomAD v4
18g.23545047A>TCA401772641NPC1c.1860T>A (p.Asp620Glu)
n.1774T>A
c.938T>A
c.1911T>A (p.Asp637Glu)
c.1446T>A (p.Asp482Glu)
18g.23545048T>ACA401772645NPC1c.1859A>T (p.Asp620Val)
n.1773A>T
c.937A>T
c.1910A>T (p.Asp637Val)
c.1445A>T (p.Asp482Val)
18g.23545048T>CCA401772649NPC1c.1859A>G (p.Asp620Gly)
n.1773A>G
c.937A>G
c.1910A>G (p.Asp637Gly)
c.1445A>G (p.Asp482Gly)
 dbSNP
18g.23545048T>GCA401772650NPC1c.1859A>C (p.Asp620Ala)
n.1773A>C
c.937A>C
c.1910A>C (p.Asp637Ala)
c.1445A>C (p.Asp482Ala)
18g.23545048T=CA2290168396NPC1c.1859A= (p.Asp620=)
n.1773A=
c.937A=
c.1910A= (p.Asp637=)
c.1445A= (p.Asp482=)
18g.23545049C>ACA401772651NPC1c.1858G>T (p.Asp620Tyr)
n.1772G>T
c.936G>T
c.1909G>T (p.Asp637Tyr)
c.1444G>T (p.Asp482Tyr)
18g.23545049C>GCA401772652NPC1c.1858G>C (p.Asp620His)
n.1772G>C
c.936G>C
c.1909G>C (p.Asp637His)
c.1444G>C (p.Asp482His)
18g.23545049C>TCA401772653NPC1c.1858G>A (p.Asp620Asn)
n.1772G>A
c.936G>A
c.1909G>A (p.Asp637Asn)
c.1444G>A (p.Asp482Asn)
18g.23545050A>CCA401772654NPC1c.1857T>G (p.Ser619Arg)
n.1771T>G
c.935T>G
c.1908T>G (p.Ser636Arg)
c.1443T>G (p.Ser481Arg)
18g.23545050A>GCA503522023NPC1c.1857T>C (p.Ser619=)
n.1771T>C
c.935T>C
c.1908T>C (p.Ser636=)
c.1443T>C (p.Ser481=)
18g.23545050A>TCA401772655NPC1c.1857T>A (p.Ser619Arg)
n.1771T>A
c.935T>A
c.1908T>A (p.Ser636Arg)
c.1443T>A (p.Ser481Arg)
18g.23545051C>ACA401772659NPC1c.1856G>T (p.Ser619Ile)
n.1770G>T
c.934G>T
c.1907G>T (p.Ser636Ile)
c.1442G>T (p.Ser481Ile)
 gnomAD v4
18g.23545051C=CA2290168397NPC1c.1856G= (p.Ser619=)
n.1770G=
c.934G=
c.1907G= (p.Ser636=)
c.1442G= (p.Ser481=)
18g.23545051C>GCA401772663NPC1c.1856G>C (p.Ser619Thr)
n.1770G>C
c.934G>C
c.1907G>C (p.Ser636Thr)
c.1442G>C (p.Ser481Thr)
 COSMIC COSMIC
18g.23545051C>TCA297060766NPC1c.1856G>A (p.Ser619Asn)
n.1770G>A
c.934G>A
c.1907G>A (p.Ser636Asn)
c.1442G>A (p.Ser481Asn)
 ClinVar dbSNP gnomAD v4
18g.23545052T>ACA401772678NPC1c.1855A>T (p.Ser619Cys)
n.1769A>T
c.933A>T
c.1906A>T (p.Ser636Cys)
c.1441A>T (p.Ser481Cys)
18g.23545052T>CCA401772680NPC1c.1855A>G (p.Ser619Gly)
n.1769A>G
c.933A>G
c.1906A>G (p.Ser636Gly)
c.1441A>G (p.Ser481Gly)
18g.23545052T>GCA401772676NPC1c.1855A>C (p.Ser619Arg)
n.1769A>C
c.933A>C
c.1906A>C (p.Ser636Arg)
c.1441A>C (p.Ser481Arg)
18g.23545053G>ACA503522024NPC1c.1854C>T (p.Asp618=)
n.1768C>T
c.932C>T
c.1905C>T (p.Asp635=)
c.1440C>T (p.Asp480=)
 gnomAD v4
18g.23545053G>CCA401772681NPC1c.1854C>G (p.Asp618Glu)
n.1768C>G
c.932C>G
c.1905C>G (p.Asp635Glu)
c.1440C>G (p.Asp480Glu)
18g.23545053G=CA2290168398NPC1c.1854C= (p.Asp618=)
n.1768C=
c.932C=
c.1905C= (p.Asp635=)
c.1440C= (p.Asp480=)
18g.23545053G>TCA401772685NPC1c.1854C>A (p.Asp618Glu)
n.1768C>A
c.932C>A
c.1905C>A (p.Asp635Glu)
c.1440C>A (p.Asp480Glu)
18g.23545054T>ACA401772697NPC1c.1853A>T (p.Asp618Val)
n.1767A>T
c.931A>T
c.1904A>T (p.Asp635Val)
c.1439A>T (p.Asp480Val)
18g.23545054T>CCA401772699NPC1c.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
18g.23545054T>GCA401772706NPC1c.1853A>C (p.Asp618Ala)
n.1767A>C
c.931A>C
c.1904A>C (p.Asp635Ala)
c.1439A>C (p.Asp480Ala)
18g.23545054T=CA2290168399NPC1c.1853A= (p.Asp618=)
n.1767A=
c.931A=
c.1904A= (p.Asp635=)
c.1439A= (p.Asp480=)
18g.23545056_23545057insGGGACTGGACCAGTGAACATCACA8913357NPC1c.1853_1854insTGTTCACTGGTCCAGTCCCTGA (p.Ser619ValfsTer7)
n.1767_1768insTGTTCACTGGTCCAGTCCCTGA
c.931_932insTGTTCACTGGTCCAGTCCCTGA
c.1904_1905insTGTTCACTGGTCCAGTCCCTGA (p.Ser636ValfsTer7)
c.1439_1440insTGTTCACTGGTCCAGTCCCTGA (p.Ser481ValfsTer7)
 dbSNP ExAC
18g.23545055C>ACA401772710NPC1c.1852G>T (p.Asp618Tyr)
n.1766G>T
c.930G>T
c.1903G>T (p.Asp635Tyr)
c.1438G>T (p.Asp480Tyr)
18g.23545055C=CA2290168400NPC1c.1852G= (p.Asp618=)
n.1766G=
c.930G=
c.1903G= (p.Asp635=)
c.1438G= (p.Asp480=)
18g.23545055C>GCA8913358NPC1c.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
18g.23545055C>TCA401772738NPC1c.1852G>A (p.Asp618Asn)
n.1766G>A
c.930G>A
c.1903G>A (p.Asp635Asn)
c.1438G>A (p.Asp480Asn)
 dbSNP
18g.23545056A>CCA401772751NPC1c.1851T>G (p.Ser617Arg)
n.1765T>G
c.929T>G
c.1902T>G (p.Ser634Arg)
c.1437T>G (p.Ser479Arg)
18g.23545056A>GCA503522025NPC1c.1851T>C (p.Ser617=)
n.1765T>C
c.929T>C
c.1902T>C (p.Ser634=)
c.1437T>C (p.Ser479=)
18g.23545056A>TCA401772772NPC1c.1851T>A (p.Ser617Arg)
n.1765T>A
c.929T>A
c.1902T>A (p.Ser634Arg)
c.1437T>A (p.Ser479Arg)
18g.23545057C>ACA401772783NPC1c.1850G>T (p.Ser617Ile)
n.1764G>T
c.928G>T
c.1901G>T (p.Ser634Ile)
c.1436G>T (p.Ser479Ile)
18g.23545057C=CA2290168401NPC1c.1850G= (p.Ser617=)
n.1764G=
c.928G=
c.1901G= (p.Ser634=)
c.1436G= (p.Ser479=)
18g.23545057C>GCA401772781NPC1c.1850G>C (p.Ser617Thr)
n.1764G>C
c.928G>C
c.1901G>C (p.Ser634Thr)
c.1436G>C (p.Ser479Thr)
18g.23545057C>TCA401772779NPC1c.1850G>A (p.Ser617Asn)
n.1764G>A
c.928G>A
c.1901G>A (p.Ser634Asn)
c.1436G>A (p.Ser479Asn)
18g.23545058T>ACA401772785NPC1c.1849A>T (p.Ser617Cys)
n.1763A>T
c.927A>T
c.1900A>T (p.Ser634Cys)
c.1435A>T (p.Ser479Cys)
18g.23545058T>CCA401772789NPC1c.1849A>G (p.Ser617Gly)
n.1763A>G
c.927A>G
c.1900A>G (p.Ser634Gly)
c.1435A>G (p.Ser479Gly)
 dbSNP
18g.23545058T>GCA401772793NPC1c.1849A>C (p.Ser617Arg)
n.1763A>C
c.927A>C
c.1900A>C (p.Ser634Arg)
c.1435A>C (p.Ser479Arg)
18g.23545058T=CA2290168402NPC1c.1849A= (p.Ser617=)
n.1763A=
c.927A=
c.1900A= (p.Ser634=)
c.1435A= (p.Ser479=)
18g.23545060dupCA916083639NPC1c.1849dup (p.Ser617LysfsTer2)
n.1763dup
c.927dup
c.1900dup (p.Ser634LysfsTer2)
c.1435dup (p.Ser479LysfsTer2)
 ClinVar dbSNP
18g.23545059T>ACA401772794NPC1c.1848A>T (p.Glu616Asp)
n.1762A>T
c.926A>T
c.1899A>T (p.Glu633Asp)
c.1434A>T (p.Glu478Asp)
18g.23545059T>CCA8913359NPC1c.1848A>G (p.Glu616=)
n.1762A>G
c.926A>G
c.1899A>G (p.Glu633=)
c.1434A>G (p.Glu478=)
 dbSNP ExAC
18g.23545059T>GCA401772797NPC1c.1848A>C (p.Glu616Asp)
n.1762A>C
c.926A>C
c.1899A>C (p.Glu633Asp)
c.1434A>C (p.Glu478Asp)
18g.23545059T=CA2290168403NPC1c.1848A= (p.Glu616=)
n.1762A=
c.926A=
c.1899A= (p.Glu633=)
c.1434A= (p.Glu478=)
18g.23545060T>ACA401772801NPC1c.1847A>T (p.Glu616Val)
n.1761A>T
c.925A>T
c.1898A>T (p.Glu633Val)
c.1433A>T (p.Glu478Val)
18g.23545060T>CCA401772803NPC1c.1847A>G (p.Glu616Gly)
n.1761A>G
c.925A>G
c.1898A>G (p.Glu633Gly)
c.1433A>G (p.Glu478Gly)
 gnomAD v4
18g.23545060T>GCA401772805NPC1c.1847A>C (p.Glu616Ala)
n.1761A>C
c.925A>C
c.1898A>C (p.Glu633Ala)
c.1433A>C (p.Glu478Ala)
18g.23545061C>ACA401772810NPC1c.1846G>T (p.Glu616Ter)
n.1760G>T
c.924G>T
c.1897G>T (p.Glu633Ter)
c.1432G>T (p.Glu478Ter)
18g.23545061C>GCA401772815NPC1c.1846G>C (p.Glu616Gln)
n.1760G>C
c.924G>C
c.1897G>C (p.Glu633Gln)
c.1432G>C (p.Glu478Gln)
18g.23545061C>TCA401772834NPC1c.1846G>A (p.Glu616Lys)
n.1760G>A
c.924G>A
c.1897G>A (p.Glu633Lys)
c.1432G>A (p.Glu478Lys)
18g.23545062A>CCA503522026NPC1c.1845T>G (p.Arg615=)
n.1759T>G
c.923T>G
c.1896T>G (p.Arg632=)
c.1431T>G (p.Arg477=)
 dbSNP
18g.23545062A>GCA503522027NPC1c.1845T>C (p.Arg615=)
n.1759T>C
c.923T>C
c.1896T>C (p.Arg632=)
c.1431T>C (p.Arg477=)
18g.23545062A>TCA503522028NPC1c.1845T>A (p.Arg615=)
n.1759T>A
c.923T>A
c.1896T>A (p.Arg632=)
c.1431T>A (p.Arg477=)
18g.23545062_23545063delinsACCA2290168404NPC1c.1844_1845delinsGT (p.Arg615=)
n.1758_1759delinsGT
c.922_923delinsGT
c.1895_1896delinsGT (p.Arg632=)
c.1430_1431delinsGT (p.Arg477=)
18g.23545063delCA777725569NPC1c.1844del (p.Arg615LeufsTer11)
n.1758del
c.922del
c.1895del (p.Arg632LeufsTer11)
c.1430del (p.Arg477LeufsTer11)
 ClinVar dbSNP gnomAD v4
18g.23545063C>ACA8913360NPC1c.1844G>T (p.Arg615Leu)
n.1758G>T
c.922G>T
c.1895G>T (p.Arg632Leu)
c.1430G>T (p.Arg477Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23545063C=CA2290168405NPC1c.1844G= (p.Arg615=)
n.1758G=
c.922G=
c.1895G= (p.Arg632=)
c.1430G= (p.Arg477=)
18g.23545063C>GCA401772846NPC1c.1844G>C (p.Arg615Pro)
n.1758G>C
c.922G>C
c.1895G>C (p.Arg632Pro)
c.1430G>C (p.Arg477Pro)
18g.23545063C>TCA401772841NPC1c.1844G>A (p.Arg615His)
n.1758G>A
c.922G>A
c.1895G>A (p.Arg632His)
c.1430G>A (p.Arg477His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23545064G>ACA8913361NPC1c.1843C>T (p.Arg615Cys)
n.1757C>T
c.921C>T
c.1894C>T (p.Arg632Cys)
c.1429C>T (p.Arg477Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.23545064G>CCA401772853NPC1c.1843C>G (p.Arg615Gly)
n.1757C>G
c.921C>G
c.1894C>G (p.Arg632Gly)
c.1429C>G (p.Arg477Gly)
18g.23545064G=CA2290168406NPC1c.1843C= (p.Arg615=)
n.1757C=
c.921C=
c.1894C= (p.Arg632=)
c.1429C= (p.Arg477=)
18g.23545064G>TCA401772863NPC1c.1843C>A (p.Arg615Ser)
n.1757C>A
c.921C>A
c.1894C>A (p.Arg632Ser)
c.1429C>A (p.Arg477Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.23545065A=CA2290168407NPC1c.1842T= (p.Asn614=)
n.1756T=
c.920T=
c.1893T= (p.Asn631=)
c.1428T= (p.Asn476=)
18g.23545065A>CCA401772877NPC1c.1842T>G (p.Asn614Lys)
n.1756T>G
c.920T>G
c.1893T>G (p.Asn631Lys)
c.1428T>G (p.Asn476Lys)
 dbSNP gnomAD v2 gnomAD v4
18g.23545065A>GCA503522029NPC1c.1842T>C (p.Asn614=)
n.1756T>C
c.920T>C
c.1893T>C (p.Asn631=)
c.1428T>C (p.Asn476=)
 ClinVar dbSNP gnomAD v4
18g.23545065A>TCA401772891NPC1c.1842T>A (p.Asn614Lys)
n.1756T>A
c.920T>A
c.1893T>A (p.Asn631Lys)
c.1428T>A (p.Asn476Lys)
18g.23545066T>ACA401772907NPC1c.1841A>T (p.Asn614Ile)
n.1755A>T
c.919A>T
c.1892A>T (p.Asn631Ile)
c.1427A>T (p.Asn476Ile)
18g.23545066T>CCA401772902NPC1c.1841A>G (p.Asn614Ser)
n.1755A>G
c.919A>G
c.1892A>G (p.Asn631Ser)
c.1427A>G (p.Asn476Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.23545066T>GCA401772897NPC1c.1841A>C (p.Asn614Thr)
n.1755A>C
c.919A>C
c.1892A>C (p.Asn631Thr)
c.1427A>C (p.Asn476Thr)
18g.23545066T=CA2290168408NPC1c.1841A= (p.Asn614=)
n.1755A=
c.919A=
c.1892A= (p.Asn631=)
c.1427A= (p.Asn476=)
18g.23545067T>ACA401772911NPC1c.1840A>T (p.Asn614Tyr)
n.1754A>T
c.918A>T
c.1891A>T (p.Asn631Tyr)
c.1426A>T (p.Asn476Tyr)
18g.23545067T>CCA401772912NPC1c.1840A>G (p.Asn614Asp)
n.1754A>G
c.918A>G
c.1891A>G (p.Asn631Asp)
c.1426A>G (p.Asn476Asp)
 dbSNP
18g.23545067T>GCA401772913NPC1c.1840A>C (p.Asn614His)
n.1754A>C
c.918A>C
c.1891A>C (p.Asn631His)
c.1426A>C (p.Asn476His)
 dbSNP
18g.23545067T=CA2290168409NPC1c.1840A= (p.Asn614=)
n.1754A=
c.918A=
c.1891A= (p.Asn631=)
c.1426A= (p.Asn476=)
18g.23545068T>ACA503522030NPC1c.1839A>T (p.Leu613=)
n.1753A>T
c.917A>T
c.1890A>T (p.Leu630=)
c.1425A>T (p.Leu475=)
18g.23545068T>CCA503522031NPC1c.1839A>G (p.Leu613=)
n.1753A>G
c.917A>G
c.1890A>G (p.Leu630=)
c.1425A>G (p.Leu475=)
 ClinVar gnomAD v4
18g.23545068T>GCA503522032NPC1c.1839A>C (p.Leu613=)
n.1753A>C
c.917A>C
c.1890A>C (p.Leu630=)
c.1425A>C (p.Leu475=)
18g.23545069A>CCA401772918NPC1c.1838T>G (p.Leu613Arg)
n.1752T>G
c.916T>G
c.1889T>G (p.Leu630Arg)
c.1424T>G (p.Leu475Arg)
18g.23545069A>GCA401772920NPC1c.1838T>C (p.Leu613Pro)
n.1752T>C
c.916T>C
c.1889T>C (p.Leu630Pro)
c.1424T>C (p.Leu475Pro)
18g.23545069A>TCA401772924NPC1c.1838T>A (p.Leu613Gln)
n.1752T>A
c.916T>A
c.1889T>A (p.Leu630Gln)
c.1424T>A (p.Leu475Gln)
18g.23545070G>ACA8913362NPC1c.1837C>T (p.Leu613=)
n.1751C>T
c.915C>T
c.1888C>T (p.Leu630=)
c.1423C>T (p.Leu475=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23545070G>CCA401772928NPC1c.1837C>G (p.Leu613Val)
n.1751C>G
c.915C>G
c.1888C>G (p.Leu630Val)
c.1423C>G (p.Leu475Val)
 dbSNP gnomAD v4
18g.23545070G=CA2290168410NPC1c.1837C= (p.Leu613=)
n.1751C=
c.915C=
c.1888C= (p.Leu630=)
c.1423C= (p.Leu475=)
18g.23545070G>TCA401772931NPC1c.1837C>A (p.Leu613Ile)
n.1751C>A
c.915C>A
c.1888C>A (p.Leu630Ile)
c.1423C>A (p.Leu475Ile)
 gnomAD v4
18g.23545071T>ACA401772946NPC1c.1836A>T (p.Glu612Asp)
n.1750A>T
c.914A>T
c.1887A>T (p.Glu629Asp)
c.1422A>T (p.Glu474Asp)
18g.23545071T>CCA503522033NPC1c.1836A>G (p.Glu612=)
n.1750A>G
c.914A>G
c.1887A>G (p.Glu629=)
c.1422A>G (p.Glu474=)
18g.23545071T>GCA401772950NPC1c.1836A>C (p.Glu612Asp)
n.1750A>C
c.914A>C
c.1887A>C (p.Glu629Asp)
c.1422A>C (p.Glu474Asp)
 ClinVar dbSNP gnomAD v4
18g.23545071T=CA2290168411NPC1c.1836A= (p.Glu612=)
n.1750A=
c.914A=
c.1887A= (p.Glu629=)
c.1422A= (p.Glu474=)
18g.23545075_23545080delCA2695227330NPC1c.1831_1836del (p.Asp611_Glu612del)
n.1745_1750del
c.909_914del
c.1882_1887del (p.Asp628_Glu629del)
c.1417_1422del (p.Asp473_Glu474del)
18g.23545072T>ACA401772953NPC1c.1835A>T (p.Glu612Val)
n.1749A>T
c.913A>T
c.1886A>T (p.Glu629Val)
c.1421A>T (p.Glu474Val)
18g.23545072T>CCA401772956NPC1c.1835A>G (p.Glu612Gly)
n.1749A>G
c.913A>G
c.1886A>G (p.Glu629Gly)
c.1421A>G (p.Glu474Gly)
 dbSNP COSMIC
18g.23545072T>GCA401772959NPC1c.1835A>C (p.Glu612Ala)
n.1749A>C
c.913A>C
c.1886A>C (p.Glu629Ala)
c.1421A>C (p.Glu474Ala)
 gnomAD v4
18g.23545072T=CA2290168412NPC1c.1835A= (p.Glu612=)
n.1749A=
c.913A=
c.1886A= (p.Glu629=)
c.1421A= (p.Glu474=)
18g.23545073C>ACA401772962NPC1c.1834G>T (p.Glu612Ter)
n.1748G>T
c.912G>T
c.1885G>T (p.Glu629Ter)
c.1420G>T (p.Glu474Ter)
18g.23545073C>GCA401772967NPC1c.1834G>C (p.Glu612Gln)
n.1748G>C
c.912G>C
c.1885G>C (p.Glu629Gln)
c.1420G>C (p.Glu474Gln)
18g.23545073C>TCA401772971NPC1c.1834G>A (p.Glu612Lys)
n.1748G>A
c.912G>A
c.1885G>A (p.Glu629Lys)
c.1420G>A (p.Glu474Lys)
 gnomAD v4
18g.23545074A>CCA401772973NPC1c.1833T>G (p.Asp611Glu)
n.1747T>G
c.911T>G
c.1884T>G (p.Asp628Glu)
c.1419T>G (p.Asp473Glu)
18g.23545074A>GCA503522034NPC1c.1833T>C (p.Asp611=)
n.1747T>C
c.911T>C
c.1884T>C (p.Asp628=)
c.1419T>C (p.Asp473=)
18g.23545074A>TCA401772976NPC1c.1833T>A (p.Asp611Glu)
n.1747T>A
c.911T>A
c.1884T>A (p.Asp628Glu)
c.1419T>A (p.Asp473Glu)
18g.23545075T>ACA401772981NPC1c.1832A>T (p.Asp611Val)
n.1746A>T
c.910A>T
c.1883A>T (p.Asp628Val)
c.1418A>T (p.Asp473Val)
18g.23545075T>CCA269821NPC1c.1832A>G (p.Asp611Gly)
n.1746A>G
c.910A>G
c.1883A>G (p.Asp628Gly)
c.1418A>G (p.Asp473Gly)
 ClinVar dbSNP
18g.23545075T>GCA401772987NPC1c.1832A>C (p.Asp611Ala)
n.1746A>C
c.910A>C
c.1883A>C (p.Asp628Ala)
c.1418A>C (p.Asp473Ala)
18g.23545075T=CA2290168413NPC1c.1832A= (p.Asp611=)
n.1746A=
c.910A=
c.1883A= (p.Asp628=)
c.1418A= (p.Asp473=)
18g.23545076C>ACA401772990NPC1c.1831G>T (p.Asp611Tyr)
n.1745G>T
c.909G>T
c.1882G>T (p.Asp628Tyr)
c.1417G>T (p.Asp473Tyr)
18g.23545076C>GCA401772998NPC1c.1831G>C (p.Asp611His)
n.1745G>C
c.909G>C
c.1882G>C (p.Asp628His)
c.1417G>C (p.Asp473His)
18g.23545076C>TCA401772995NPC1c.1831G>A (p.Asp611Asn)
n.1745G>A
c.909G>A
c.1882G>A (p.Asp628Asn)
c.1417G>A (p.Asp473Asn)
 COSMIC
18g.23545077T>ACA401773001NPC1c.1830A>T (p.Glu610Asp)
n.1744A>T
c.908A>T
c.1881A>T (p.Glu627Asp)
c.1416A>T (p.Glu472Asp)
18g.23545077T>CCA503522035NPC1c.1830A>G (p.Glu610=)
n.1744A>G
c.908A>G
c.1881A>G (p.Glu627=)
c.1416A>G (p.Glu472=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23545077T>GCA401773003NPC1c.1830A>C (p.Glu610Asp)
n.1744A>C
c.908A>C
c.1881A>C (p.Glu627Asp)
c.1416A>C (p.Glu472Asp)
18g.23545077T=CA2290168414NPC1c.1830A= (p.Glu610=)
n.1744A=
c.908A=
c.1881A= (p.Glu627=)
c.1416A= (p.Glu472=)
18g.23545078T>ACA401773006NPC1c.1829A>T (p.Glu610Val)
n.1743A>T
c.907A>T
c.1880A>T (p.Glu627Val)
c.1415A>T (p.Glu472Val)
18g.23545078T>CCA401773011NPC1c.1829A>G (p.Glu610Gly)
n.1743A>G
c.907A>G
c.1880A>G (p.Glu627Gly)
c.1415A>G (p.Glu472Gly)
18g.23545078T>GCA401773014NPC1c.1829A>C (p.Glu610Ala)
n.1743A>C
c.907A>C
c.1880A>C (p.Glu627Ala)
c.1415A>C (p.Glu472Ala)
 gnomAD v4
18g.23545079C>ACA401773017NPC1c.1828G>T (p.Glu610Ter)
n.1742G>T
c.906G>T
c.1879G>T (p.Glu627Ter)
c.1414G>T (p.Glu472Ter)
18g.23545079C=CA2290168415NPC1c.1828G= (p.Glu610=)
n.1742G=
c.906G=
c.1879G= (p.Glu627=)
c.1414G= (p.Glu472=)
18g.23545079C>GCA401773019NPC1c.1828G>C (p.Glu610Gln)
n.1742G>C
c.906G>C
c.1879G>C (p.Glu627Gln)
c.1414G>C (p.Glu472Gln)
18g.23545079C>TCA401773021NPC1c.1828G>A (p.Glu610Lys)
n.1742G>A
c.906G>A
c.1879G>A (p.Glu627Lys)
c.1414G>A (p.Glu472Lys)
 dbSNP gnomAD v2 gnomAD v4
18g.23545080A>CCA401773025NPC1c.1827T>G (p.Ile609Met)
n.1741T>G
c.905T>G
c.1878T>G (p.Ile626Met)
c.1413T>G (p.Ile471Met)
18g.23545080A>GCA503522036NPC1c.1827T>C (p.Ile609=)
n.1741T>C
c.905T>C
c.1878T>C (p.Ile626=)
c.1413T>C (p.Ile471=)
18g.23545080A>TCA503522037NPC1c.1827T>A (p.Ile609=)
n.1741T>A
c.905T>A
c.1878T>A (p.Ile626=)
c.1413T>A (p.Ile471=)
18g.23545081A>CCA401773027NPC1c.1826T>G (p.Ile609Ser)
n.1740T>G
c.904T>G
c.1877T>G (p.Ile626Ser)
c.1412T>G (p.Ile471Ser)
18g.23545081A>GCA401773028NPC1c.1826T>C (p.Ile609Thr)
n.1740T>C
c.904T>C
c.1877T>C (p.Ile626Thr)
c.1412T>C (p.Ile471Thr)
 gnomAD v4
18g.23545081A>TCA401773031NPC1c.1826T>A (p.Ile609Asn)
n.1740T>A
c.904T>A
c.1877T>A (p.Ile626Asn)
c.1412T>A (p.Ile471Asn)
18g.23545082T>ACA401773037NPC1c.1825A>T (p.Ile609Phe)
n.1739A>T
c.903A>T
c.1876A>T (p.Ile626Phe)
c.1411A>T (p.Ile471Phe)
 gnomAD v4
18g.23545082T>CCA401773038NPC1c.1825A>G (p.Ile609Val)
n.1739A>G
c.903A>G
c.1876A>G (p.Ile626Val)
c.1411A>G (p.Ile471Val)
18g.23545082T>GCA401773034NPC1c.1825A>C (p.Ile609Leu)
n.1739A>C
c.903A>C
c.1876A>C (p.Ile626Leu)
c.1411A>C (p.Ile471Leu)
18g.23545083A>CCA401773040NPC1c.1824T>G (p.Ser608Arg)
n.1738T>G
c.902T>G
c.1875T>G (p.Ser625Arg)
c.1410T>G (p.Ser470Arg)
18g.23545083A>GCA503522038NPC1c.1824T>C (p.Ser608=)
n.1738T>C
c.902T>C
c.1875T>C (p.Ser625=)
c.1410T>C (p.Ser470=)
18g.23545083A>TCA401773042NPC1c.1824T>A (p.Ser608Arg)
n.1738T>A
c.902T>A
c.1875T>A (p.Ser625Arg)
c.1410T>A (p.Ser470Arg)
18g.23545084C>ACA401773043NPC1c.1823G>T (p.Ser608Ile)
n.1737G>T
c.901G>T
c.1874G>T (p.Ser625Ile)
c.1409G>T (p.Ser470Ile)
18g.23545084C=CA2290168416NPC1c.1823G= (p.Ser608=)
n.1737G=
c.901G=
c.1874G= (p.Ser625=)
c.1409G= (p.Ser470=)
18g.23545084C>GCA401773045NPC1c.1823G>C (p.Ser608Thr)
n.1737G>C
c.901G>C
c.1874G>C (p.Ser625Thr)
c.1409G>C (p.Ser470Thr)
18g.23545084C>TCA8913363NPC1c.1823G>A (p.Ser608Asn)
n.1737G>A
c.901G>A
c.1874G>A (p.Ser625Asn)
c.1409G>A (p.Ser470Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23545085T>ACA401773057NPC1c.1822A>T (p.Ser608Cys)
n.1736A>T
c.900A>T
c.1873A>T (p.Ser625Cys)
c.1408A>T (p.Ser470Cys)
18g.23545085T>CCA401773051NPC1c.1822A>G (p.Ser608Gly)
n.1736A>G
c.900A>G
c.1873A>G (p.Ser625Gly)
c.1408A>G (p.Ser470Gly)
18g.23545085T>GCA401773055NPC1c.1822A>C (p.Ser608Arg)
n.1736A>C
c.900A>C
c.1873A>C (p.Ser625Arg)
c.1408A>C (p.Ser470Arg)
18g.23545086T>ACA503522039NPC1c.1821A>T (p.Arg607=)
n.1735A>T
c.899A>T
c.1872A>T (p.Arg624=)
c.1407A>T (p.Arg469=)
18g.23545086T>CCA503522040NPC1c.1821A>G (p.Arg607=)
n.1735A>G
c.899A>G
c.1872A>G (p.Arg624=)
c.1407A>G (p.Arg469=)
18g.23545086T>GCA503522041NPC1c.1821A>C (p.Arg607=)
n.1735A>C
c.899A>C
c.1872A>C (p.Arg624=)
c.1407A>C (p.Arg469=)
18g.23545087C>ACA401773058NPC1c.1820G>T (p.Arg607Leu)
n.1734G>T
c.898G>T
c.1871G>T (p.Arg624Leu)
c.1406G>T (p.Arg469Leu)
18g.23545087C>GCA401773059NPC1c.1820G>C (p.Arg607Pro)
n.1734G>C
c.898G>C
c.1871G>C (p.Arg624Pro)
c.1406G>C (p.Arg469Pro)
 gnomAD v4 COSMIC
18g.23545087C>TCA401773060NPC1c.1820G>A (p.Arg607Gln)
n.1734G>A
c.898G>A
c.1871G>A (p.Arg624Gln)
c.1406G>A (p.Arg469Gln)
 ClinVar gnomAD v4
18g.23545088G>ACA10588676NPC1c.1819C>T (p.Arg607Ter)
n.1733C>T
c.897C>T
c.1870C>T (p.Arg624Ter)
c.1405C>T (p.Arg469Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23545088G>CCA401773065NPC1c.1819C>G (p.Arg607Gly)
n.1733C>G
c.897C>G
c.1870C>G (p.Arg624Gly)
c.1405C>G (p.Arg469Gly)
18g.23545088G=CA2290168417NPC1c.1819C= (p.Arg607=)
n.1733C=
c.897C=
c.1870C= (p.Arg624=)
c.1405C= (p.Arg469=)
18g.23545088G>TCA8913364NPC1c.1819C>A (p.Arg607=)
n.1733C>A
c.897C>A
c.1870C>A (p.Arg624=)
c.1405C>A (p.Arg469=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23545089T>ACA401773069NPC1c.1818A>T (p.Glu606Asp)
n.1732A>T
c.896A>T
c.1869A>T (p.Glu623Asp)
c.1404A>T (p.Glu468Asp)
18g.23545089T>CCA503522042NPC1c.1818A>G (p.Glu606=)
n.1732A>G
c.896A>G
c.1869A>G (p.Glu623=)
c.1404A>G (p.Glu468=)
18g.23545089T>GCA401773070NPC1c.1818A>C (p.Glu606Asp)
n.1732A>C
c.896A>C
c.1869A>C (p.Glu623Asp)
c.1404A>C (p.Glu468Asp)
18g.23545090T>ACA401773074NPC1c.1817A>T (p.Glu606Val)
n.1731A>T
c.895A>T
c.1868A>T (p.Glu623Val)
c.1403A>T (p.Glu468Val)
18g.23545090T>CCA401773080NPC1c.1817A>G (p.Glu606Gly)
n.1731A>G
c.895A>G
c.1868A>G (p.Glu623Gly)
c.1403A>G (p.Glu468Gly)
18g.23545090T>GCA401773077NPC1c.1817A>C (p.Glu606Ala)
n.1731A>C
c.895A>C
c.1868A>C (p.Glu623Ala)
c.1403A>C (p.Glu468Ala)
 gnomAD v4
18g.23545091C>ACA401773083NPC1c.1816G>T (p.Glu606Ter)
n.1730G>T
c.894G>T
c.1867G>T (p.Glu623Ter)
c.1402G>T (p.Glu468Ter)
18g.23545091C>GCA401773090NPC1c.1816G>C (p.Glu606Gln)
n.1730G>C
c.894G>C
c.1867G>C (p.Glu623Gln)
c.1402G>C (p.Glu468Gln)
 gnomAD v4
18g.23545091C>TCA401773087NPC1c.1816G>A (p.Glu606Lys)
n.1730G>A
c.894G>A
c.1867G>A (p.Glu623Lys)
c.1402G>A (p.Glu468Lys)
18g.23545092A=CA2290168418NPC1c.1815T= (p.Ala605=)
n.1729T=
c.893T=
c.1866T= (p.Ala622=)
c.1401T= (p.Ala467=)
18g.23545092A>CCA503522043NPC1c.1815T>G (p.Ala605=)
n.1729T>G
c.893T>G
c.1866T>G (p.Ala622=)
c.1401T>G (p.Ala467=)
18g.23545092A>GCA503522045NPC1c.1815T>C (p.Ala605=)
n.1729T>C
c.893T>C
c.1866T>C (p.Ala622=)
c.1401T>C (p.Ala467=)
 dbSNP
18g.23545092A>TCA503522044NPC1c.1815T>A (p.Ala605=)
n.1729T>A
c.893T>A
c.1866T>A (p.Ala622=)
c.1401T>A (p.Ala467=)
18g.23545093G>ACA401773094NPC1c.1814C>T (p.Ala605Val)
n.1728C>T
c.892C>T
c.1865C>T (p.Ala622Val)
c.1400C>T (p.Ala467Val)
18g.23545093G>CCA401773100NPC1c.1814C>G (p.Ala605Gly)
n.1728C>G
c.892C>G
c.1865C>G (p.Ala622Gly)
c.1400C>G (p.Ala467Gly)
 gnomAD v4
18g.23545093G>TCA401773097NPC1c.1814C>A (p.Ala605Asp)
n.1728C>A
c.892C>A
c.1865C>A (p.Ala622Asp)
c.1400C>A (p.Ala467Asp)
18g.23545094C>ACA401773103NPC1c.1813G>T (p.Ala605Ser)
n.1727G>T
c.891G>T
c.1864G>T (p.Ala622Ser)
c.1399G>T (p.Ala467Ser)
18g.23545094C>GCA401773116NPC1c.1813G>C (p.Ala605Pro)
n.1727G>C
c.891G>C
c.1864G>C (p.Ala622Pro)
c.1399G>C (p.Ala467Pro)
18g.23545094C>TCA401773113NPC1c.1813G>A (p.Ala605Thr)
n.1727G>A
c.891G>A
c.1864G>A (p.Ala622Thr)
c.1399G>A (p.Ala467Thr)
18g.23545095A=CA2290168419NPC1c.1812T= (p.Thr604=)
n.1726T=
c.890T=
c.1863T= (p.Thr621=)
c.1398T= (p.Thr466=)
18g.23545095A>CCA503522046NPC1c.1812T>G (p.Thr604=)
n.1726T>G
c.890T>G
c.1863T>G (p.Thr621=)
c.1398T>G (p.Thr466=)
 dbSNP
18g.23545095A>GCA503522047NPC1c.1812T>C (p.Thr604=)
n.1726T>C
c.890T>C
c.1863T>C (p.Thr621=)
c.1398T>C (p.Thr466=)
18g.23545095A>TCA503522048NPC1c.1812T>A (p.Thr604=)
n.1726T>A
c.890T>A
c.1863T>A (p.Thr621=)
c.1398T>A (p.Thr466=)
18g.23545095dupCA2695227331NPC1c.1812dup (p.Ala605CysfsTer2)
n.1726dup
c.890dup
c.1863dup (p.Ala622CysfsTer2)
c.1398dup (p.Ala467CysfsTer2)
18g.23545096G>ACA8913365NPC1c.1811C>T (p.Thr604Ile)
n.1725C>T
c.889C>T
c.1862C>T (p.Thr621Ile)
c.1397C>T (p.Thr466Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23545096G>CCA401773122NPC1c.1811C>G (p.Thr604Ser)
n.1725C>G
c.889C>G
c.1862C>G (p.Thr621Ser)
c.1397C>G (p.Thr466Ser)
18g.23545096G=CA2290168420NPC1c.1811C= (p.Thr604=)
n.1725C=
c.889C=
c.1862C= (p.Thr621=)
c.1397C= (p.Thr466=)
18g.23545096G>TCA401773124NPC1c.1811C>A (p.Thr604Asn)
n.1725C>A
c.889C>A
c.1862C>A (p.Thr621Asn)
c.1397C>A (p.Thr466Asn)
18g.23545097T>ACA401773127NPC1c.1810A>T (p.Thr604Ser)
n.1724A>T
c.888A>T
c.1861A>T (p.Thr621Ser)
c.1396A>T (p.Thr466Ser)
18g.23545097T>CCA401773129NPC1c.1810A>G (p.Thr604Ala)
n.1724A>G
c.888A>G
c.1861A>G (p.Thr621Ala)
c.1396A>G (p.Thr466Ala)
 gnomAD v4
18g.23545097T>GCA401773131NPC1c.1810A>C (p.Thr604Pro)
n.1724A>C
c.888A>C
c.1861A>C (p.Thr621Pro)
c.1396A>C (p.Thr466Pro)
18g.23545098G>ACA503522050NPC1c.1809C>T (p.Phe603=)
n.1723C>T
c.887C>T
c.1860C>T (p.Phe620=)
c.1395C>T (p.Phe465=)
 gnomAD v4
18g.23545098G>CCA401773134NPC1c.1809C>G (p.Phe603Leu)
n.1723C>G
c.887C>G
c.1860C>G (p.Phe620Leu)
c.1395C>G (p.Phe465Leu)
18g.23545098G>TCA401773136NPC1c.1809C>A (p.Phe603Leu)
n.1723C>A
c.887C>A
c.1860C>A (p.Phe620Leu)
c.1395C>A (p.Phe465Leu)
18g.23545099A>CCA401773140NPC1c.1808T>G (p.Phe603Cys)
n.1722T>G
c.886T>G
c.1859T>G (p.Phe620Cys)
c.1394T>G (p.Phe465Cys)
18g.23545099A>GCA401773142NPC1c.1808T>C (p.Phe603Ser)
n.1722T>C
c.886T>C
c.1859T>C (p.Phe620Ser)
c.1394T>C (p.Phe465Ser)
18g.23545099A>TCA401773148NPC1c.1808T>A (p.Phe603Tyr)
n.1722T>A
c.886T>A
c.1859T>A (p.Phe620Tyr)
c.1394T>A (p.Phe465Tyr)
18g.23545100A>CCA401773153NPC1c.1807T>G (p.Phe603Val)
n.1721T>G
c.885T>G
c.1858T>G (p.Phe620Val)
c.1393T>G (p.Phe465Val)
18g.23545100A>GCA401773149NPC1c.1807T>C (p.Phe603Leu)
n.1721T>C
c.885T>C
c.1858T>C (p.Phe620Leu)
c.1393T>C (p.Phe465Leu)
18g.23545100A>TCA401773150NPC1c.1807T>A (p.Phe603Ile)
n.1721T>A
c.885T>A
c.1858T>A (p.Phe620Ile)
c.1393T>A (p.Phe465Ile)
18g.23545101G>ACA503522052NPC1c.1806C>T (p.Ser602=)
n.1720C>T
c.884C>T
c.1857C>T (p.Ser619=)
c.1392C>T (p.Ser464=)
18g.23545101G>CCA503522053NPC1c.1806C>G (p.Ser602=)
n.1720C>G
c.884C>G
c.1857C>G (p.Ser619=)
c.1392C>G (p.Ser464=)
 gnomAD v4
18g.23545101G>TCA503522054NPC1c.1806C>A (p.Ser602=)
n.1720C>A
c.884C>A
c.1857C>A (p.Ser619=)
c.1392C>A (p.Ser464=)
18g.23545102G>ACA401773158NPC1c.1805C>T (p.Ser602Phe)
n.1719C>T
c.883C>T
c.1856C>T (p.Ser619Phe)
c.1391C>T (p.Ser464Phe)
 COSMIC COSMIC
18g.23545102G>CCA401773159NPC1c.1805C>G (p.Ser602Cys)
n.1719C>G
c.883C>G
c.1856C>G (p.Ser619Cys)
c.1391C>G (p.Ser464Cys)
18g.23545102G>TCA401773160NPC1c.1805C>A (p.Ser602Tyr)
n.1719C>A
c.883C>A
c.1856C>A (p.Ser619Tyr)
c.1391C>A (p.Ser464Tyr)
18g.23545103A>CCA401773161NPC1c.1804T>G (p.Ser602Ala)
n.1718T>G
c.882T>G
c.1855T>G (p.Ser619Ala)
c.1390T>G (p.Ser464Ala)
18g.23545103A>GCA401773163NPC1c.1804T>C (p.Ser602Pro)
n.1718T>C
c.882T>C
c.1855T>C (p.Ser619Pro)
c.1390T>C (p.Ser464Pro)
 ClinVar
18g.23545103A>TCA401773164NPC1c.1804T>A (p.Ser602Thr)
n.1718T>A
c.882T>A
c.1855T>A (p.Ser619Thr)
c.1390T>A (p.Ser464Thr)
18g.23545104A>CCA401773168NPC1c.1803T>G (p.Ile601Met)
n.1717T>G
c.881T>G
c.1854T>G (p.Ile618Met)
c.1389T>G (p.Ile463Met)
18g.23545104A>GCA503522055NPC1c.1803T>C (p.Ile601=)
n.1717T>C
c.881T>C
c.1854T>C (p.Ile618=)
c.1389T>C (p.Ile463=)
18g.23545104A>TCA503522056NPC1c.1803T>A (p.Ile601=)
n.1717T>A
c.881T>A
c.1854T>A (p.Ile618=)
c.1389T>A (p.Ile463=)
18g.23545105A>CCA401773172NPC1c.1802T>G (p.Ile601Ser)
n.1716T>G
c.880T>G
c.1853T>G (p.Ile618Ser)
c.1388T>G (p.Ile463Ser)
18g.23545105A>GCA401773174NPC1c.1802T>C (p.Ile601Thr)
n.1716T>C
c.880T>C
c.1853T>C (p.Ile618Thr)
c.1388T>C (p.Ile463Thr)
18g.23545105A>TCA401773176NPC1c.1802T>A (p.Ile601Asn)
n.1716T>A
c.880T>A
c.1853T>A (p.Ile618Asn)
c.1388T>A (p.Ile463Asn)
18g.23545106T>ACA401773186NPC1c.1801A>T (p.Ile601Phe)
n.1715A>T
c.879A>T
c.1852A>T (p.Ile618Phe)
c.1387A>T (p.Ile463Phe)
18g.23545106T>CCA401773183NPC1c.1801A>G (p.Ile601Val)
n.1715A>G
c.879A>G
c.1852A>G (p.Ile618Val)
c.1387A>G (p.Ile463Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23545106T>GCA401773180NPC1c.1801A>C (p.Ile601Leu)
n.1715A>C
c.879A>C
c.1852A>C (p.Ile618Leu)
c.1387A>C (p.Ile463Leu)
18g.23545106T=CA2290168422NPC1c.1801A= (p.Ile601=)
n.1715A=
c.879A=
c.1852A= (p.Ile618=)
c.1387A= (p.Ile463=)
18g.23545106_23545107delinsTGCA2290168421NPC1c.1800_1801delinsCA (p.Thr600=)
n.1714_1715delinsCA
c.878_879delinsCA
c.1851_1852delinsCA (p.Thr617=)
c.1386_1387delinsCA (p.Thr462=)
18g.23545107G>ACA503522058NPC1c.1800C>T (p.Thr600=)
n.1714C>T
c.878C>T
c.1851C>T (p.Thr617=)
c.1386C>T (p.Thr462=)
 ClinVar gnomAD v4
18g.23545107G>CCA503522059NPC1c.1800C>G (p.Thr600=)
n.1714C>G
c.878C>G
c.1851C>G (p.Thr617=)
c.1386C>G (p.Thr462=)
18g.23545107G>TCA503522060NPC1c.1800C>A (p.Thr600=)
n.1714C>A
c.878C>A
c.1851C>A (p.Thr617=)
c.1386C>A (p.Thr462=)
18g.23545108delCA269820NPC1c.1800del (p.Ile601PhefsTer13)
n.1714del
c.878del
c.1851del (p.Ile618PhefsTer13)
c.1386del (p.Ile463PhefsTer13)
 ClinVar dbSNP

Number of alleles fetched