WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 5 | g.102390995A>G | CA360573859 | SLCO6A1 | c.1865T>C (p.Ile622Thr) c.1679T>C (p.Ile560Thr) c.1106T>C (p.Ile369Thr) n.235T>C c.1760T>C (p.Ile587Thr) c.1628T>C (p.Ile543Thr) c.1292T>C (p.Ile431Thr) c.1136T>C (p.Ile379Thr) c.1043T>C (p.Ile348Thr) | |
| 5 | g.102390995A>T | CA360573861 | SLCO6A1 | c.1865T>A (p.Ile622Asn) c.1679T>A (p.Ile560Asn) c.1106T>A (p.Ile369Asn) n.235T>A c.1760T>A (p.Ile587Asn) c.1628T>A (p.Ile543Asn) c.1292T>A (p.Ile431Asn) c.1136T>A (p.Ile379Asn) c.1043T>A (p.Ile348Asn) | |
| 5 | g.102390996T>A | CA360573863 | SLCO6A1 | c.1864A>T (p.Ile622Phe) c.1678A>T (p.Ile560Phe) c.1105A>T (p.Ile369Phe) n.234A>T c.1759A>T (p.Ile587Phe) c.1627A>T (p.Ile543Phe) c.1291A>T (p.Ile431Phe) c.1135A>T (p.Ile379Phe) c.1042A>T (p.Ile348Phe) | |
| 5 | g.102390996T>C | CA360573864 | SLCO6A1 | c.1864A>G (p.Ile622Val) c.1678A>G (p.Ile560Val) c.1105A>G (p.Ile369Val) n.234A>G c.1759A>G (p.Ile587Val) c.1627A>G (p.Ile543Val) c.1291A>G (p.Ile431Val) c.1135A>G (p.Ile379Val) c.1042A>G (p.Ile348Val) | dbSNP gnomAD v4 |
| 5 | g.102390996T>G | CA360573865 | SLCO6A1 | c.1864A>C (p.Ile622Leu) c.1678A>C (p.Ile560Leu) c.1105A>C (p.Ile369Leu) n.234A>C c.1759A>C (p.Ile587Leu) c.1627A>C (p.Ile543Leu) c.1291A>C (p.Ile431Leu) c.1135A>C (p.Ile379Leu) c.1042A>C (p.Ile348Leu) | |
| 5 | g.102390996T= | CA1568270773 | SLCO6A1 | c.1864A= (p.Ile622=) c.1678A= (p.Ile560=) c.1105A= (p.Ile369=) n.234A= c.1759A= (p.Ile587=) c.1627A= (p.Ile543=) c.1291A= (p.Ile431=) c.1135A= (p.Ile379=) c.1042A= (p.Ile348=) | |
| 5 | g.102390997C>A | CA445859906 | SLCO6A1 | c.1863G>T (p.Val621=) c.1677G>T (p.Val559=) c.1104G>T (p.Val368=) n.233G>T c.1758G>T (p.Val586=) c.1626G>T (p.Val542=) c.1290G>T (p.Val430=) c.1134G>T (p.Val378=) c.1041G>T (p.Val347=) | |
| 5 | g.102390997C>G | CA445859907 | SLCO6A1 | c.1863G>C (p.Val621=) c.1677G>C (p.Val559=) c.1104G>C (p.Val368=) n.233G>C c.1758G>C (p.Val586=) c.1626G>C (p.Val542=) c.1290G>C (p.Val430=) c.1134G>C (p.Val378=) c.1041G>C (p.Val347=) | |
| 5 | g.102390997C>T | CA445859908 | SLCO6A1 | c.1863G>A (p.Val621=) c.1677G>A (p.Val559=) c.1104G>A (p.Val368=) n.233G>A c.1758G>A (p.Val586=) c.1626G>A (p.Val542=) c.1290G>A (p.Val430=) c.1134G>A (p.Val378=) c.1041G>A (p.Val347=) | |
| 5 | g.102390998A= | CA1568270774 | SLCO6A1 | c.1862T= (p.Val621=) c.1676T= (p.Val559=) c.1103T= (p.Val368=) n.232T= c.1757T= (p.Val586=) c.1625T= (p.Val542=) c.1289T= (p.Val430=) c.1133T= (p.Val378=) c.1040T= (p.Val347=) | |
| 5 | g.102390998A>C | CA360573871 | SLCO6A1 | c.1862T>G (p.Val621Gly) c.1676T>G (p.Val559Gly) c.1103T>G (p.Val368Gly) n.232T>G c.1757T>G (p.Val586Gly) c.1625T>G (p.Val542Gly) c.1289T>G (p.Val430Gly) c.1133T>G (p.Val378Gly) c.1040T>G (p.Val347Gly) | dbSNP gnomAD v4 |
| 5 | g.102390998A>G | CA360573868 | SLCO6A1 | c.1862T>C (p.Val621Ala) c.1676T>C (p.Val559Ala) c.1103T>C (p.Val368Ala) n.232T>C c.1757T>C (p.Val586Ala) c.1625T>C (p.Val542Ala) c.1289T>C (p.Val430Ala) c.1133T>C (p.Val378Ala) c.1040T>C (p.Val347Ala) | COSMIC |
| 5 | g.102390998A>T | CA360573869 | SLCO6A1 | c.1862T>A (p.Val621Glu) c.1676T>A (p.Val559Glu) c.1103T>A (p.Val368Glu) n.232T>A c.1757T>A (p.Val586Glu) c.1625T>A (p.Val542Glu) c.1289T>A (p.Val430Glu) c.1133T>A (p.Val378Glu) c.1040T>A (p.Val347Glu) | |
| 5 | g.102390998_102390999insAATTATCAAATAAAATATG | CA2567262241 | SLCO6A1 | c.1861_1862insCATATTTTATTTGATAATT (p.Val621AlafsTer5) c.1675_1676insCATATTTTATTTGATAATT (p.Val559AlafsTer5) c.1102_1103insCATATTTTATTTGATAATT (p.Val368AlafsTer5) n.231_232insCATATTTTATTTGATAATT c.1756_1757insCATATTTTATTTGATAATT (p.Val586AlafsTer5) c.1624_1625insCATATTTTATTTGATAATT (p.Val542AlafsTer5) c.1288_1289insCATATTTTATTTGATAATT (p.Val430AlafsTer5) c.1132_1133insCATATTTTATTTGATAATT (p.Val378AlafsTer5) c.1039_1040insCATATTTTATTTGATAATT (p.Val347AlafsTer5) | |
| 5 | g.102390999C>A | CA360573874 | SLCO6A1 | c.1861G>T (p.Val621Leu) c.1675G>T (p.Val559Leu) c.1102G>T (p.Val368Leu) n.231G>T c.1756G>T (p.Val586Leu) c.1624G>T (p.Val542Leu) c.1288G>T (p.Val430Leu) c.1132G>T (p.Val378Leu) c.1039G>T (p.Val347Leu) | |
| 5 | g.102390999C>G | CA360573876 | SLCO6A1 | c.1861G>C (p.Val621Leu) c.1675G>C (p.Val559Leu) c.1102G>C (p.Val368Leu) n.231G>C c.1756G>C (p.Val586Leu) c.1624G>C (p.Val542Leu) c.1288G>C (p.Val430Leu) c.1132G>C (p.Val378Leu) c.1039G>C (p.Val347Leu) | |
| 5 | g.102390999C>T | CA360573878 | SLCO6A1 | c.1861G>A (p.Val621Met) c.1675G>A (p.Val559Met) c.1102G>A (p.Val368Met) n.231G>A c.1756G>A (p.Val586Met) c.1624G>A (p.Val542Met) c.1288G>A (p.Val430Met) c.1132G>A (p.Val378Met) c.1039G>A (p.Val347Met) | gnomAD v4 |
| 5 | g.102391000A>C | CA360573880 | SLCO6A1 | c.1860T>G (p.Tyr620Ter) c.1674T>G (p.Tyr558Ter) c.1101T>G (p.Tyr367Ter) n.230T>G c.1755T>G (p.Tyr585Ter) c.1623T>G (p.Tyr541Ter) c.1287T>G (p.Tyr429Ter) c.1131T>G (p.Tyr377Ter) c.1038T>G (p.Tyr346Ter) | |
| 5 | g.102391000A>G | CA445859909 | SLCO6A1 | c.1860T>C (p.Tyr620=) c.1674T>C (p.Tyr558=) c.1101T>C (p.Tyr367=) n.230T>C c.1755T>C (p.Tyr585=) c.1623T>C (p.Tyr541=) c.1287T>C (p.Tyr429=) c.1131T>C (p.Tyr377=) c.1038T>C (p.Tyr346=) | |
| 5 | g.102391000A>T | CA360573881 | SLCO6A1 | c.1860T>A (p.Tyr620Ter) c.1674T>A (p.Tyr558Ter) c.1101T>A (p.Tyr367Ter) n.230T>A c.1755T>A (p.Tyr585Ter) c.1623T>A (p.Tyr541Ter) c.1287T>A (p.Tyr429Ter) c.1131T>A (p.Tyr377Ter) c.1038T>A (p.Tyr346Ter) | |
| 5 | g.102391001T>A | CA360573884 | SLCO6A1 | c.1859A>T (p.Tyr620Phe) c.1673A>T (p.Tyr558Phe) c.1100A>T (p.Tyr367Phe) n.229A>T c.1754A>T (p.Tyr585Phe) c.1622A>T (p.Tyr541Phe) c.1286A>T (p.Tyr429Phe) c.1130A>T (p.Tyr377Phe) c.1037A>T (p.Tyr346Phe) | |
| 5 | g.102391001T>C | CA360573888 | SLCO6A1 | c.1859A>G (p.Tyr620Cys) c.1673A>G (p.Tyr558Cys) c.1100A>G (p.Tyr367Cys) n.229A>G c.1754A>G (p.Tyr585Cys) c.1622A>G (p.Tyr541Cys) c.1286A>G (p.Tyr429Cys) c.1130A>G (p.Tyr377Cys) c.1037A>G (p.Tyr346Cys) | dbSNP |
| 5 | g.102391001T>G | CA360573885 | SLCO6A1 | c.1859A>C (p.Tyr620Ser) c.1673A>C (p.Tyr558Ser) c.1100A>C (p.Tyr367Ser) n.229A>C c.1754A>C (p.Tyr585Ser) c.1622A>C (p.Tyr541Ser) c.1286A>C (p.Tyr429Ser) c.1130A>C (p.Tyr377Ser) c.1037A>C (p.Tyr346Ser) | |
| 5 | g.102391002A>C | CA360573890 | SLCO6A1 | c.1858T>G (p.Tyr620Asp) c.1672T>G (p.Tyr558Asp) c.1099T>G (p.Tyr367Asp) n.228T>G c.1753T>G (p.Tyr585Asp) c.1621T>G (p.Tyr541Asp) c.1285T>G (p.Tyr429Asp) c.1129T>G (p.Tyr377Asp) c.1036T>G (p.Tyr346Asp) | |
| 5 | g.102391002A>G | CA360573891 | SLCO6A1 | c.1858T>C (p.Tyr620His) c.1672T>C (p.Tyr558His) c.1099T>C (p.Tyr367His) n.228T>C c.1753T>C (p.Tyr585His) c.1621T>C (p.Tyr541His) c.1285T>C (p.Tyr429His) c.1129T>C (p.Tyr377His) c.1036T>C (p.Tyr346His) | |
| 5 | g.102391002A>T | CA360573893 | SLCO6A1 | c.1858T>A (p.Tyr620Asn) c.1672T>A (p.Tyr558Asn) c.1099T>A (p.Tyr367Asn) n.228T>A c.1753T>A (p.Tyr585Asn) c.1621T>A (p.Tyr541Asn) c.1285T>A (p.Tyr429Asn) c.1129T>A (p.Tyr377Asn) c.1036T>A (p.Tyr346Asn) |