Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.102390980C>A | CA360573787 | SLCO6A1 | c.1879+1G>T (n.1879+1G>T) c.1693+1G>T (n.1693+1G>T) c.1120+1G>T (n.1120+1G>T) n.249+1G>T c.1774+1G>T (n.1774+1G>T) c.1642+1G>T (n.1642+1G>T) c.1306+1G>T (n.1306+1G>T) c.1150+1G>T (n.1150+1G>T) c.1057+1G>T (n.1057+1G>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.102390980C= | CA1568270770 | SLCO6A1 | c.1879+1G= (n.1879+1G=) c.1693+1G= (n.1693+1G=) c.1120+1G= (n.1120+1G=) n.249+1G= c.1774+1G= (n.1774+1G=) c.1642+1G= (n.1642+1G=) c.1306+1G= (n.1306+1G=) c.1150+1G= (n.1150+1G=) c.1057+1G= (n.1057+1G=) | |
5 | g.102390980C>G | CA3357923 | SLCO6A1 | c.1879+1G>C (n.1879+1G>C) c.1693+1G>C (n.1693+1G>C) c.1120+1G>C (n.1120+1G>C) n.249+1G>C c.1774+1G>C (n.1774+1G>C) c.1642+1G>C (n.1642+1G>C) c.1306+1G>C (n.1306+1G>C) c.1150+1G>C (n.1150+1G>C) c.1057+1G>C (n.1057+1G>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.102390980C>T | CA3357924 | SLCO6A1 | c.1879+1G>A (n.1879+1G>A) c.1693+1G>A (n.1693+1G>A) c.1120+1G>A (n.1120+1G>A) n.249+1G>A c.1774+1G>A (n.1774+1G>A) c.1642+1G>A (n.1642+1G>A) c.1306+1G>A (n.1306+1G>A) c.1150+1G>A (n.1150+1G>A) c.1057+1G>A (n.1057+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.102390981C>A | CA360573791 | SLCO6A1 | c.1879G>T (p.Gly627Trp) c.1693G>T (p.Gly565Trp) c.1120G>T (p.Gly374Trp) n.249G>T c.1774G>T (p.Gly592Trp) c.1642G>T (p.Gly548Trp) c.1306G>T (p.Gly436Trp) c.1150G>T (p.Gly384Trp) c.1057G>T (p.Gly353Trp) | |
5 | g.102390981C>G | CA360573793 | SLCO6A1 | c.1879G>C (p.Gly627Arg) c.1693G>C (p.Gly565Arg) c.1120G>C (p.Gly374Arg) n.249G>C c.1774G>C (p.Gly592Arg) c.1642G>C (p.Gly548Arg) c.1306G>C (p.Gly436Arg) c.1150G>C (p.Gly384Arg) c.1057G>C (p.Gly353Arg) | |
5 | g.102390981C>T | CA360573795 | SLCO6A1 | c.1879G>A (p.Gly627Arg) c.1693G>A (p.Gly565Arg) c.1120G>A (p.Gly374Arg) n.249G>A c.1774G>A (p.Gly592Arg) c.1642G>A (p.Gly548Arg) c.1306G>A (p.Gly436Arg) c.1150G>A (p.Gly384Arg) c.1057G>A (p.Gly353Arg) | |
5 | g.102390982A>C | CA360573797 | SLCO6A1 | c.1878T>G (p.Phe626Leu) c.1692T>G (p.Phe564Leu) c.1119T>G (p.Phe373Leu) n.248T>G c.1773T>G (p.Phe591Leu) c.1641T>G (p.Phe547Leu) c.1305T>G (p.Phe435Leu) c.1149T>G (p.Phe383Leu) c.1056T>G (p.Phe352Leu) | |
5 | g.102390982A>G | CA445859897 | SLCO6A1 | c.1878T>C (p.Phe626=) c.1692T>C (p.Phe564=) c.1119T>C (p.Phe373=) n.248T>C c.1773T>C (p.Phe591=) c.1641T>C (p.Phe547=) c.1305T>C (p.Phe435=) c.1149T>C (p.Phe383=) c.1056T>C (p.Phe352=) | |
5 | g.102390982A>T | CA360573799 | SLCO6A1 | c.1878T>A (p.Phe626Leu) c.1692T>A (p.Phe564Leu) c.1119T>A (p.Phe373Leu) n.248T>A c.1773T>A (p.Phe591Leu) c.1641T>A (p.Phe547Leu) c.1305T>A (p.Phe435Leu) c.1149T>A (p.Phe383Leu) c.1056T>A (p.Phe352Leu) | |
5 | g.102390983A>C | CA360573801 | SLCO6A1 | c.1877T>G (p.Phe626Cys) c.1691T>G (p.Phe564Cys) c.1118T>G (p.Phe373Cys) n.247T>G c.1772T>G (p.Phe591Cys) c.1640T>G (p.Phe547Cys) c.1304T>G (p.Phe435Cys) c.1148T>G (p.Phe383Cys) c.1055T>G (p.Phe352Cys) | gnomAD v4 |
5 | g.102390983A>G | CA360573802 | SLCO6A1 | c.1877T>C (p.Phe626Ser) c.1691T>C (p.Phe564Ser) c.1118T>C (p.Phe373Ser) n.247T>C c.1772T>C (p.Phe591Ser) c.1640T>C (p.Phe547Ser) c.1304T>C (p.Phe435Ser) c.1148T>C (p.Phe383Ser) c.1055T>C (p.Phe352Ser) | |
5 | g.102390983A>T | CA360573804 | SLCO6A1 | c.1877T>A (p.Phe626Tyr) c.1691T>A (p.Phe564Tyr) c.1118T>A (p.Phe373Tyr) n.247T>A c.1772T>A (p.Phe591Tyr) c.1640T>A (p.Phe547Tyr) c.1304T>A (p.Phe435Tyr) c.1148T>A (p.Phe383Tyr) c.1055T>A (p.Phe352Tyr) | |
5 | g.102390984A>C | CA360573807 | SLCO6A1 | c.1876T>G (p.Phe626Val) c.1690T>G (p.Phe564Val) c.1117T>G (p.Phe373Val) n.246T>G c.1771T>G (p.Phe591Val) c.1639T>G (p.Phe547Val) c.1303T>G (p.Phe435Val) c.1147T>G (p.Phe383Val) c.1054T>G (p.Phe352Val) | |
5 | g.102390984A>G | CA360573808 | SLCO6A1 | c.1876T>C (p.Phe626Leu) c.1690T>C (p.Phe564Leu) c.1117T>C (p.Phe373Leu) n.246T>C c.1771T>C (p.Phe591Leu) c.1639T>C (p.Phe547Leu) c.1303T>C (p.Phe435Leu) c.1147T>C (p.Phe383Leu) c.1054T>C (p.Phe352Leu) | |
5 | g.102390984A>T | CA360573810 | SLCO6A1 | c.1876T>A (p.Phe626Ile) c.1690T>A (p.Phe564Ile) c.1117T>A (p.Phe373Ile) n.246T>A c.1771T>A (p.Phe591Ile) c.1639T>A (p.Phe547Ile) c.1303T>A (p.Phe435Ile) c.1147T>A (p.Phe383Ile) c.1054T>A (p.Phe352Ile) | |
5 | g.102390985T>A | CA445859898 | SLCO6A1 | c.1875A>T (p.Ile625=) c.1689A>T (p.Ile563=) c.1116A>T (p.Ile372=) n.245A>T c.1770A>T (p.Ile590=) c.1638A>T (p.Ile546=) c.1302A>T (p.Ile434=) c.1146A>T (p.Ile382=) c.1053A>T (p.Ile351=) | |
5 | g.102390985T>C | CA360573812 | SLCO6A1 | c.1875A>G (p.Ile625Met) c.1689A>G (p.Ile563Met) c.1116A>G (p.Ile372Met) n.245A>G c.1770A>G (p.Ile590Met) c.1638A>G (p.Ile546Met) c.1302A>G (p.Ile434Met) c.1146A>G (p.Ile382Met) c.1053A>G (p.Ile351Met) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.102390985T>G | CA445859899 | SLCO6A1 | c.1875A>C (p.Ile625=) c.1689A>C (p.Ile563=) c.1116A>C (p.Ile372=) n.245A>C c.1770A>C (p.Ile590=) c.1638A>C (p.Ile546=) c.1302A>C (p.Ile434=) c.1146A>C (p.Ile382=) c.1053A>C (p.Ile351=) | |
5 | g.102390985T= | CA1568270771 | SLCO6A1 | c.1875A= (p.Ile625=) c.1689A= (p.Ile563=) c.1116A= (p.Ile372=) n.245A= c.1770A= (p.Ile590=) c.1638A= (p.Ile546=) c.1302A= (p.Ile434=) c.1146A= (p.Ile382=) c.1053A= (p.Ile351=) | |
5 | g.102390986A>C | CA360573819 | SLCO6A1 | c.1874T>G (p.Ile625Arg) c.1688T>G (p.Ile563Arg) c.1115T>G (p.Ile372Arg) n.244T>G c.1769T>G (p.Ile590Arg) c.1637T>G (p.Ile546Arg) c.1301T>G (p.Ile434Arg) c.1145T>G (p.Ile382Arg) c.1052T>G (p.Ile351Arg) | |
5 | g.102390986A>G | CA360573817 | SLCO6A1 | c.1874T>C (p.Ile625Thr) c.1688T>C (p.Ile563Thr) c.1115T>C (p.Ile372Thr) n.244T>C c.1769T>C (p.Ile590Thr) c.1637T>C (p.Ile546Thr) c.1301T>C (p.Ile434Thr) c.1145T>C (p.Ile382Thr) c.1052T>C (p.Ile351Thr) | |
5 | g.102390986A>T | CA360573815 | SLCO6A1 | c.1874T>A (p.Ile625Lys) c.1688T>A (p.Ile563Lys) c.1115T>A (p.Ile372Lys) n.244T>A c.1769T>A (p.Ile590Lys) c.1637T>A (p.Ile546Lys) c.1301T>A (p.Ile434Lys) c.1145T>A (p.Ile382Lys) c.1052T>A (p.Ile351Lys) | |
5 | g.102390987T>A | CA360573821 | SLCO6A1 | c.1873A>T (p.Ile625Leu) c.1687A>T (p.Ile563Leu) c.1114A>T (p.Ile372Leu) n.243A>T c.1768A>T (p.Ile590Leu) c.1636A>T (p.Ile546Leu) c.1300A>T (p.Ile434Leu) c.1144A>T (p.Ile382Leu) c.1051A>T (p.Ile351Leu) | |
5 | g.102390987T>C | CA360573823 | SLCO6A1 | c.1873A>G (p.Ile625Val) c.1687A>G (p.Ile563Val) c.1114A>G (p.Ile372Val) n.243A>G c.1768A>G (p.Ile590Val) c.1636A>G (p.Ile546Val) c.1300A>G (p.Ile434Val) c.1144A>G (p.Ile382Val) c.1051A>G (p.Ile351Val) | |
5 | g.102390987T>G | CA360573825 | SLCO6A1 | c.1873A>C (p.Ile625Leu) c.1687A>C (p.Ile563Leu) c.1114A>C (p.Ile372Leu) n.243A>C c.1768A>C (p.Ile590Leu) c.1636A>C (p.Ile546Leu) c.1300A>C (p.Ile434Leu) c.1144A>C (p.Ile382Leu) c.1051A>C (p.Ile351Leu) | |
5 | g.102390988T>A | CA360573827 | SLCO6A1 | c.1872A>T (p.Arg624Ser) c.1686A>T (p.Arg562Ser) c.1113A>T (p.Arg371Ser) n.242A>T c.1767A>T (p.Arg589Ser) c.1635A>T (p.Arg545Ser) c.1299A>T (p.Arg433Ser) c.1143A>T (p.Arg381Ser) c.1050A>T (p.Arg350Ser) | |
5 | g.102390988T>C | CA445859900 | SLCO6A1 | c.1872A>G (p.Arg624=) c.1686A>G (p.Arg562=) c.1113A>G (p.Arg371=) n.242A>G c.1767A>G (p.Arg589=) c.1635A>G (p.Arg545=) c.1299A>G (p.Arg433=) c.1143A>G (p.Arg381=) c.1050A>G (p.Arg350=) | |
5 | g.102390988T>G | CA360573829 | SLCO6A1 | c.1872A>C (p.Arg624Ser) c.1686A>C (p.Arg562Ser) c.1113A>C (p.Arg371Ser) n.242A>C c.1767A>C (p.Arg589Ser) c.1635A>C (p.Arg545Ser) c.1299A>C (p.Arg433Ser) c.1143A>C (p.Arg381Ser) c.1050A>C (p.Arg350Ser) | |
5 | g.102390989C>A | CA360573832 | SLCO6A1 | c.1871G>T (p.Arg624Ile) c.1685G>T (p.Arg562Ile) c.1112G>T (p.Arg371Ile) n.241G>T c.1766G>T (p.Arg589Ile) c.1634G>T (p.Arg545Ile) c.1298G>T (p.Arg433Ile) c.1142G>T (p.Arg381Ile) c.1049G>T (p.Arg350Ile) | |
5 | g.102390989C>G | CA360573833 | SLCO6A1 | c.1871G>C (p.Arg624Thr) c.1685G>C (p.Arg562Thr) c.1112G>C (p.Arg371Thr) n.241G>C c.1766G>C (p.Arg589Thr) c.1634G>C (p.Arg545Thr) c.1298G>C (p.Arg433Thr) c.1142G>C (p.Arg381Thr) c.1049G>C (p.Arg350Thr) | |
5 | g.102390989C>T | CA360573835 | SLCO6A1 | c.1871G>A (p.Arg624Lys) c.1685G>A (p.Arg562Lys) c.1112G>A (p.Arg371Lys) n.241G>A c.1766G>A (p.Arg589Lys) c.1634G>A (p.Arg545Lys) c.1298G>A (p.Arg433Lys) c.1142G>A (p.Arg381Lys) c.1049G>A (p.Arg350Lys) | COSMIC |
5 | g.102390990T>A | CA360573837 | SLCO6A1 | c.1870A>T (p.Arg624Ter) c.1684A>T (p.Arg562Ter) c.1111A>T (p.Arg371Ter) n.240A>T c.1765A>T (p.Arg589Ter) c.1633A>T (p.Arg545Ter) c.1297A>T (p.Arg433Ter) c.1141A>T (p.Arg381Ter) c.1048A>T (p.Arg350Ter) | |
5 | g.102390990T>C | CA360573839 | SLCO6A1 | c.1870A>G (p.Arg624Gly) c.1684A>G (p.Arg562Gly) c.1111A>G (p.Arg371Gly) n.240A>G c.1765A>G (p.Arg589Gly) c.1633A>G (p.Arg545Gly) c.1297A>G (p.Arg433Gly) c.1141A>G (p.Arg381Gly) c.1048A>G (p.Arg350Gly) | |
5 | g.102390990T>G | CA445859901 | SLCO6A1 | c.1870A>C (p.Arg624=) c.1684A>C (p.Arg562=) c.1111A>C (p.Arg371=) n.240A>C c.1765A>C (p.Arg589=) c.1633A>C (p.Arg545=) c.1297A>C (p.Arg433=) c.1141A>C (p.Arg381=) c.1048A>C (p.Arg350=) | |
5 | g.102390991C>A | CA360573841 | SLCO6A1 | c.1869G>T (p.Leu623Phe) c.1683G>T (p.Leu561Phe) c.1110G>T (p.Leu370Phe) n.239G>T c.1764G>T (p.Leu588Phe) c.1632G>T (p.Leu544Phe) c.1296G>T (p.Leu432Phe) c.1140G>T (p.Leu380Phe) c.1047G>T (p.Leu349Phe) | |
5 | g.102390991C= | CA1568270772 | SLCO6A1 | c.1869G= (p.Leu623=) c.1683G= (p.Leu561=) c.1110G= (p.Leu370=) n.239G= c.1764G= (p.Leu588=) c.1632G= (p.Leu544=) c.1296G= (p.Leu432=) c.1140G= (p.Leu380=) c.1047G= (p.Leu349=) | |
5 | g.102390991C>G | CA360573843 | SLCO6A1 | c.1869G>C (p.Leu623Phe) c.1683G>C (p.Leu561Phe) c.1110G>C (p.Leu370Phe) n.239G>C c.1764G>C (p.Leu588Phe) c.1632G>C (p.Leu544Phe) c.1296G>C (p.Leu432Phe) c.1140G>C (p.Leu380Phe) c.1047G>C (p.Leu349Phe) | |
5 | g.102390991C>T | CA445859902 | SLCO6A1 | c.1869G>A (p.Leu623=) c.1683G>A (p.Leu561=) c.1110G>A (p.Leu370=) n.239G>A c.1764G>A (p.Leu588=) c.1632G>A (p.Leu544=) c.1296G>A (p.Leu432=) c.1140G>A (p.Leu380=) c.1047G>A (p.Leu349=) | |
5 | g.102390992A>C | CA360573845 | SLCO6A1 | c.1868T>G (p.Leu623Trp) c.1682T>G (p.Leu561Trp) c.1109T>G (p.Leu370Trp) n.238T>G c.1763T>G (p.Leu588Trp) c.1631T>G (p.Leu544Trp) c.1295T>G (p.Leu432Trp) c.1139T>G (p.Leu380Trp) c.1046T>G (p.Leu349Trp) | |
5 | g.102390992A>G | CA360573849 | SLCO6A1 | c.1868T>C (p.Leu623Ser) c.1682T>C (p.Leu561Ser) c.1109T>C (p.Leu370Ser) n.238T>C c.1763T>C (p.Leu588Ser) c.1631T>C (p.Leu544Ser) c.1295T>C (p.Leu432Ser) c.1139T>C (p.Leu380Ser) c.1046T>C (p.Leu349Ser) | |
5 | g.102390992A>T | CA360573847 | SLCO6A1 | c.1868T>A (p.Leu623Ter) c.1682T>A (p.Leu561Ter) c.1109T>A (p.Leu370Ter) n.238T>A c.1763T>A (p.Leu588Ter) c.1631T>A (p.Leu544Ter) c.1295T>A (p.Leu432Ter) c.1139T>A (p.Leu380Ter) c.1046T>A (p.Leu349Ter) | |
5 | g.102390995dup | CA561319488 | SLCO6A1 | c.1868dup (p.Leu623PhefsTer14) c.1682dup (p.Leu561PhefsTer14) c.1109dup (p.Leu370PhefsTer14) n.238dup c.1763dup (p.Leu588PhefsTer14) c.1631dup (p.Leu544PhefsTer14) c.1295dup (p.Leu432PhefsTer14) c.1139dup (p.Leu380PhefsTer14) c.1046dup (p.Leu349PhefsTer14) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.102390993A>C | CA360573851 | SLCO6A1 | c.1867T>G (p.Leu623Val) c.1681T>G (p.Leu561Val) c.1108T>G (p.Leu370Val) n.237T>G c.1762T>G (p.Leu588Val) c.1630T>G (p.Leu544Val) c.1294T>G (p.Leu432Val) c.1138T>G (p.Leu380Val) c.1045T>G (p.Leu349Val) | |
5 | g.102390993A>G | CA445859903 | SLCO6A1 | c.1867T>C (p.Leu623=) c.1681T>C (p.Leu561=) c.1108T>C (p.Leu370=) n.237T>C c.1762T>C (p.Leu588=) c.1630T>C (p.Leu544=) c.1294T>C (p.Leu432=) c.1138T>C (p.Leu380=) c.1045T>C (p.Leu349=) | |
5 | g.102390993A>T | CA360573853 | SLCO6A1 | c.1867T>A (p.Leu623Met) c.1681T>A (p.Leu561Met) c.1108T>A (p.Leu370Met) n.237T>A c.1762T>A (p.Leu588Met) c.1630T>A (p.Leu544Met) c.1294T>A (p.Leu432Met) c.1138T>A (p.Leu380Met) c.1045T>A (p.Leu349Met) | |
5 | g.102390994A>C | CA360573855 | SLCO6A1 | c.1866T>G (p.Ile622Met) c.1680T>G (p.Ile560Met) c.1107T>G (p.Ile369Met) n.236T>G c.1761T>G (p.Ile587Met) c.1629T>G (p.Ile543Met) c.1293T>G (p.Ile431Met) c.1137T>G (p.Ile379Met) c.1044T>G (p.Ile348Met) | |
5 | g.102390994A>G | CA445859904 | SLCO6A1 | c.1866T>C (p.Ile622=) c.1680T>C (p.Ile560=) c.1107T>C (p.Ile369=) n.236T>C c.1761T>C (p.Ile587=) c.1629T>C (p.Ile543=) c.1293T>C (p.Ile431=) c.1137T>C (p.Ile379=) c.1044T>C (p.Ile348=) | |
5 | g.102390994A>T | CA445859905 | SLCO6A1 | c.1866T>A (p.Ile622=) c.1680T>A (p.Ile560=) c.1107T>A (p.Ile369=) n.236T>A c.1761T>A (p.Ile587=) c.1629T>A (p.Ile543=) c.1293T>A (p.Ile431=) c.1137T>A (p.Ile379=) c.1044T>A (p.Ile348=) | |
5 | g.102390995A>C | CA360573857 | SLCO6A1 | c.1865T>G (p.Ile622Ser) c.1679T>G (p.Ile560Ser) c.1106T>G (p.Ile369Ser) n.235T>G c.1760T>G (p.Ile587Ser) c.1628T>G (p.Ile543Ser) c.1292T>G (p.Ile431Ser) c.1136T>G (p.Ile379Ser) c.1043T>G (p.Ile348Ser) |