Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
18 | g.23545063del | CA777725569 | NPC1 | c.1844del (p.Arg615LeufsTer11) n.1758del c.922del c.1895del (p.Arg632LeufsTer11) c.1430del (p.Arg477LeufsTer11) | ClinVar dbSNP gnomAD v4 |