| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |