Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched