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 |
|---|---|---|---|---|---|
| 18 | g.49118866A= | CA2302066420 | DYM | c.1789T= (p.Cys597=) c.1624T= (p.Cys542=) c.1054T= (p.Cys352=) c.1621T= (p.Cys541=) c.1456T= (p.Cys486=) c.1564-21351T= (n.1564-21351T=) c.1786T= (p.Cys596=) c.1729-21351T= (n.1729-21351T=) c.1618T= (p.Cys540=) c.1444T= (p.Cys482=) c.1561-21351T= (n.1561-21351T=) c.1558-21351T= (n.1558-21351T=) n.1981T= c.1783T= (p.Cys595=) c.1663T= (p.Cys555=) c.1498T= (p.Cys500=) c.1441T= (p.Cys481=) c.1396T= (p.Cys466=) c.1219T= (p.Cys407=) c.1051T= (p.Cys351=) c.994-21351T= (n.994-21351T=) | |
| 18 | g.49118866A>C | CA402507231 | DYM | c.1789T>G (p.Cys597Gly) c.1624T>G (p.Cys542Gly) c.1054T>G (p.Cys352Gly) c.1621T>G (p.Cys541Gly) c.1456T>G (p.Cys486Gly) c.1564-21351T>G (n.1564-21351T>G) c.1786T>G (p.Cys596Gly) c.1729-21351T>G (n.1729-21351T>G) c.1618T>G (p.Cys540Gly) c.1444T>G (p.Cys482Gly) c.1561-21351T>G (n.1561-21351T>G) c.1558-21351T>G (n.1558-21351T>G) n.1981T>G c.1783T>G (p.Cys595Gly) c.1663T>G (p.Cys555Gly) c.1498T>G (p.Cys500Gly) c.1441T>G (p.Cys481Gly) c.1396T>G (p.Cys466Gly) c.1219T>G (p.Cys407Gly) c.1051T>G (p.Cys351Gly) c.994-21351T>G (n.994-21351T>G) | |
| 18 | g.49118866A>G | CA116051 | DYM | c.1789T>C (p.Cys597Arg) c.1624T>C (p.Cys542Arg) c.1054T>C (p.Cys352Arg) c.1621T>C (p.Cys541Arg) c.1456T>C (p.Cys486Arg) c.1564-21351T>C (n.1564-21351T>C) c.1786T>C (p.Cys596Arg) c.1729-21351T>C (n.1729-21351T>C) c.1618T>C (p.Cys540Arg) c.1444T>C (p.Cys482Arg) c.1561-21351T>C (n.1561-21351T>C) c.1558-21351T>C (n.1558-21351T>C) n.1981T>C c.1783T>C (p.Cys595Arg) c.1663T>C (p.Cys555Arg) c.1498T>C (p.Cys500Arg) c.1441T>C (p.Cys481Arg) c.1396T>C (p.Cys466Arg) c.1219T>C (p.Cys407Arg) c.1051T>C (p.Cys351Arg) c.994-21351T>C (n.994-21351T>C) | ClinVar dbSNP |
| 18 | g.49118866A>T | CA402507232 | DYM | c.1789T>A (p.Cys597Ser) c.1624T>A (p.Cys542Ser) c.1054T>A (p.Cys352Ser) c.1621T>A (p.Cys541Ser) c.1456T>A (p.Cys486Ser) c.1564-21351T>A (n.1564-21351T>A) c.1786T>A (p.Cys596Ser) c.1729-21351T>A (n.1729-21351T>A) c.1618T>A (p.Cys540Ser) c.1444T>A (p.Cys482Ser) c.1561-21351T>A (n.1561-21351T>A) c.1558-21351T>A (n.1558-21351T>A) n.1981T>A c.1783T>A (p.Cys595Ser) c.1663T>A (p.Cys555Ser) c.1498T>A (p.Cys500Ser) c.1441T>A (p.Cys481Ser) c.1396T>A (p.Cys466Ser) c.1219T>A (p.Cys407Ser) c.1051T>A (p.Cys351Ser) c.994-21351T>A (n.994-21351T>A) | |
| 18 | g.49118867G>A | CA503936366 | DYM | c.1788C>T (p.Ser596=) c.1623C>T (p.Ser541=) c.1053C>T (p.Ser351=) c.1620C>T (p.Ser540=) c.1455C>T (p.Ser485=) c.1564-21352C>T (n.1564-21352C>T) c.1785C>T (p.Ser595=) c.1729-21352C>T (n.1729-21352C>T) c.1617C>T (p.Ser539=) c.1443C>T (p.Ser481=) c.1561-21352C>T (n.1561-21352C>T) c.1558-21352C>T (n.1558-21352C>T) n.1980C>T c.1782C>T (p.Ser594=) c.1662C>T (p.Ser554=) c.1497C>T (p.Ser499=) c.1440C>T (p.Ser480=) c.1395C>T (p.Ser465=) c.1218C>T (p.Ser406=) c.1050C>T (p.Ser350=) c.994-21352C>T (n.994-21352C>T) | |
| 18 | g.49118867G>C | CA503936367 | DYM | c.1788C>G (p.Ser596=) c.1623C>G (p.Ser541=) c.1053C>G (p.Ser351=) c.1620C>G (p.Ser540=) c.1455C>G (p.Ser485=) c.1564-21352C>G (n.1564-21352C>G) c.1785C>G (p.Ser595=) c.1729-21352C>G (n.1729-21352C>G) c.1617C>G (p.Ser539=) c.1443C>G (p.Ser481=) c.1561-21352C>G (n.1561-21352C>G) c.1558-21352C>G (n.1558-21352C>G) n.1980C>G c.1782C>G (p.Ser594=) c.1662C>G (p.Ser554=) c.1497C>G (p.Ser499=) c.1440C>G (p.Ser480=) c.1395C>G (p.Ser465=) c.1218C>G (p.Ser406=) c.1050C>G (p.Ser350=) c.994-21352C>G (n.994-21352C>G) | |
| 18 | g.49118867G>T | CA503936368 | DYM | c.1788C>A (p.Ser596=) c.1623C>A (p.Ser541=) c.1053C>A (p.Ser351=) c.1620C>A (p.Ser540=) c.1455C>A (p.Ser485=) c.1564-21352C>A (n.1564-21352C>A) c.1785C>A (p.Ser595=) c.1729-21352C>A (n.1729-21352C>A) c.1617C>A (p.Ser539=) c.1443C>A (p.Ser481=) c.1561-21352C>A (n.1561-21352C>A) c.1558-21352C>A (n.1558-21352C>A) n.1980C>A c.1782C>A (p.Ser594=) c.1662C>A (p.Ser554=) c.1497C>A (p.Ser499=) c.1440C>A (p.Ser480=) c.1395C>A (p.Ser465=) c.1218C>A (p.Ser406=) c.1050C>A (p.Ser350=) c.994-21352C>A (n.994-21352C>A) | |
| 18 | g.49118868G>A | CA402507233 | DYM | c.1787C>T (p.Ser596Phe) c.1622C>T (p.Ser541Phe) c.1052C>T (p.Ser351Phe) c.1619C>T (p.Ser540Phe) c.1454C>T (p.Ser485Phe) c.1564-21353C>T (n.1564-21353C>T) c.1784C>T (p.Ser595Phe) c.1729-21353C>T (n.1729-21353C>T) c.1616C>T (p.Ser539Phe) c.1442C>T (p.Ser481Phe) c.1561-21353C>T (n.1561-21353C>T) c.1558-21353C>T (n.1558-21353C>T) n.1979C>T c.1781C>T (p.Ser594Phe) c.1661C>T (p.Ser554Phe) c.1496C>T (p.Ser499Phe) c.1439C>T (p.Ser480Phe) c.1394C>T (p.Ser465Phe) c.1217C>T (p.Ser406Phe) c.1049C>T (p.Ser350Phe) c.994-21353C>T (n.994-21353C>T) | gnomAD v4 |
| 18 | g.49118868G>C | CA402507234 | DYM | c.1787C>G (p.Ser596Cys) c.1622C>G (p.Ser541Cys) c.1052C>G (p.Ser351Cys) c.1619C>G (p.Ser540Cys) c.1454C>G (p.Ser485Cys) c.1564-21353C>G (n.1564-21353C>G) c.1784C>G (p.Ser595Cys) c.1729-21353C>G (n.1729-21353C>G) c.1616C>G (p.Ser539Cys) c.1442C>G (p.Ser481Cys) c.1561-21353C>G (n.1561-21353C>G) c.1558-21353C>G (n.1558-21353C>G) n.1979C>G c.1781C>G (p.Ser594Cys) c.1661C>G (p.Ser554Cys) c.1496C>G (p.Ser499Cys) c.1439C>G (p.Ser480Cys) c.1394C>G (p.Ser465Cys) c.1217C>G (p.Ser406Cys) c.1049C>G (p.Ser350Cys) c.994-21353C>G (n.994-21353C>G) | |
| 18 | g.49118868G>T | CA402507235 | DYM | c.1787C>A (p.Ser596Tyr) c.1622C>A (p.Ser541Tyr) c.1052C>A (p.Ser351Tyr) c.1619C>A (p.Ser540Tyr) c.1454C>A (p.Ser485Tyr) c.1564-21353C>A (n.1564-21353C>A) c.1784C>A (p.Ser595Tyr) c.1729-21353C>A (n.1729-21353C>A) c.1616C>A (p.Ser539Tyr) c.1442C>A (p.Ser481Tyr) c.1561-21353C>A (n.1561-21353C>A) c.1558-21353C>A (n.1558-21353C>A) n.1979C>A c.1781C>A (p.Ser594Tyr) c.1661C>A (p.Ser554Tyr) c.1496C>A (p.Ser499Tyr) c.1439C>A (p.Ser480Tyr) c.1394C>A (p.Ser465Tyr) c.1217C>A (p.Ser406Tyr) c.1049C>A (p.Ser350Tyr) c.994-21353C>A (n.994-21353C>A) | |
| 18 | g.49118869A>C | CA402507238 | DYM | c.1786T>G (p.Ser596Ala) c.1621T>G (p.Ser541Ala) c.1051T>G (p.Ser351Ala) c.1618T>G (p.Ser540Ala) c.1453T>G (p.Ser485Ala) c.1564-21354T>G (n.1564-21354T>G) c.1783T>G (p.Ser595Ala) c.1729-21354T>G (n.1729-21354T>G) c.1615T>G (p.Ser539Ala) c.1441T>G (p.Ser481Ala) c.1561-21354T>G (n.1561-21354T>G) c.1558-21354T>G (n.1558-21354T>G) n.1978T>G c.1780T>G (p.Ser594Ala) c.1660T>G (p.Ser554Ala) c.1495T>G (p.Ser499Ala) c.1438T>G (p.Ser480Ala) c.1393T>G (p.Ser465Ala) c.1216T>G (p.Ser406Ala) c.1048T>G (p.Ser350Ala) c.994-21354T>G (n.994-21354T>G) | |
| 18 | g.49118869A>G | CA402507237 | DYM | c.1786T>C (p.Ser596Pro) c.1621T>C (p.Ser541Pro) c.1051T>C (p.Ser351Pro) c.1618T>C (p.Ser540Pro) c.1453T>C (p.Ser485Pro) c.1564-21354T>C (n.1564-21354T>C) c.1783T>C (p.Ser595Pro) c.1729-21354T>C (n.1729-21354T>C) c.1615T>C (p.Ser539Pro) c.1441T>C (p.Ser481Pro) c.1561-21354T>C (n.1561-21354T>C) c.1558-21354T>C (n.1558-21354T>C) n.1978T>C c.1780T>C (p.Ser594Pro) c.1660T>C (p.Ser554Pro) c.1495T>C (p.Ser499Pro) c.1438T>C (p.Ser480Pro) c.1393T>C (p.Ser465Pro) c.1216T>C (p.Ser406Pro) c.1048T>C (p.Ser350Pro) c.994-21354T>C (n.994-21354T>C) | |
| 18 | g.49118869A>T | CA402507236 | DYM | c.1786T>A (p.Ser596Thr) c.1621T>A (p.Ser541Thr) c.1051T>A (p.Ser351Thr) c.1618T>A (p.Ser540Thr) c.1453T>A (p.Ser485Thr) c.1564-21354T>A (n.1564-21354T>A) c.1783T>A (p.Ser595Thr) c.1729-21354T>A (n.1729-21354T>A) c.1615T>A (p.Ser539Thr) c.1441T>A (p.Ser481Thr) c.1561-21354T>A (n.1561-21354T>A) c.1558-21354T>A (n.1558-21354T>A) n.1978T>A c.1780T>A (p.Ser594Thr) c.1660T>A (p.Ser554Thr) c.1495T>A (p.Ser499Thr) c.1438T>A (p.Ser480Thr) c.1393T>A (p.Ser465Thr) c.1216T>A (p.Ser406Thr) c.1048T>A (p.Ser350Thr) c.994-21354T>A (n.994-21354T>A) | |
| 18 | g.49118870G>A | CA503936369 | DYM | c.1785C>T (p.Asn595=) c.1620C>T (p.Asn540=) c.1050C>T (p.Asn350=) c.1617C>T (p.Asn539=) c.1452C>T (p.Asn484=) c.1564-21355C>T (n.1564-21355C>T) c.1782C>T (p.Asn594=) c.1729-21355C>T (n.1729-21355C>T) c.1614C>T (p.Asn538=) c.1440C>T (p.Asn480=) c.1561-21355C>T (n.1561-21355C>T) c.1558-21355C>T (n.1558-21355C>T) n.1977C>T c.1779C>T (p.Asn593=) c.1659C>T (p.Asn553=) c.1494C>T (p.Asn498=) c.1437C>T (p.Asn479=) c.1392C>T (p.Asn464=) c.1215C>T (p.Asn405=) c.1047C>T (p.Asn349=) c.994-21355C>T (n.994-21355C>T) | |
| 18 | g.49118870G>C | CA402507239 | DYM | c.1785C>G (p.Asn595Lys) c.1620C>G (p.Asn540Lys) c.1050C>G (p.Asn350Lys) c.1617C>G (p.Asn539Lys) c.1452C>G (p.Asn484Lys) c.1564-21355C>G (n.1564-21355C>G) c.1782C>G (p.Asn594Lys) c.1729-21355C>G (n.1729-21355C>G) c.1614C>G (p.Asn538Lys) c.1440C>G (p.Asn480Lys) c.1561-21355C>G (n.1561-21355C>G) c.1558-21355C>G (n.1558-21355C>G) n.1977C>G c.1779C>G (p.Asn593Lys) c.1659C>G (p.Asn553Lys) c.1494C>G (p.Asn498Lys) c.1437C>G (p.Asn479Lys) c.1392C>G (p.Asn464Lys) c.1215C>G (p.Asn405Lys) c.1047C>G (p.Asn349Lys) c.994-21355C>G (n.994-21355C>G) | |
| 18 | g.49118870G>T | CA402507240 | DYM | c.1785C>A (p.Asn595Lys) c.1620C>A (p.Asn540Lys) c.1050C>A (p.Asn350Lys) c.1617C>A (p.Asn539Lys) c.1452C>A (p.Asn484Lys) c.1564-21355C>A (n.1564-21355C>A) c.1782C>A (p.Asn594Lys) c.1729-21355C>A (n.1729-21355C>A) c.1614C>A (p.Asn538Lys) c.1440C>A (p.Asn480Lys) c.1561-21355C>A (n.1561-21355C>A) c.1558-21355C>A (n.1558-21355C>A) n.1977C>A c.1779C>A (p.Asn593Lys) c.1659C>A (p.Asn553Lys) c.1494C>A (p.Asn498Lys) c.1437C>A (p.Asn479Lys) c.1392C>A (p.Asn464Lys) c.1215C>A (p.Asn405Lys) c.1047C>A (p.Asn349Lys) c.994-21355C>A (n.994-21355C>A) | |
| 18 | g.49118871T>A | CA402507241 | DYM | c.1784A>T (p.Asn595Ile) c.1619A>T (p.Asn540Ile) c.1049A>T (p.Asn350Ile) c.1616A>T (p.Asn539Ile) c.1451A>T (p.Asn484Ile) c.1564-21356A>T (n.1564-21356A>T) c.1781A>T (p.Asn594Ile) c.1729-21356A>T (n.1729-21356A>T) c.1613A>T (p.Asn538Ile) c.1439A>T (p.Asn480Ile) c.1561-21356A>T (n.1561-21356A>T) c.1558-21356A>T (n.1558-21356A>T) n.1976A>T c.1778A>T (p.Asn593Ile) c.1658A>T (p.Asn553Ile) c.1493A>T (p.Asn498Ile) c.1436A>T (p.Asn479Ile) c.1391A>T (p.Asn464Ile) c.1214A>T (p.Asn405Ile) c.1046A>T (p.Asn349Ile) c.994-21356A>T (n.994-21356A>T) | |
| 18 | g.49118871T>C | CA402507242 | DYM | c.1784A>G (p.Asn595Ser) c.1619A>G (p.Asn540Ser) c.1049A>G (p.Asn350Ser) c.1616A>G (p.Asn539Ser) c.1451A>G (p.Asn484Ser) c.1564-21356A>G (n.1564-21356A>G) c.1781A>G (p.Asn594Ser) c.1729-21356A>G (n.1729-21356A>G) c.1613A>G (p.Asn538Ser) c.1439A>G (p.Asn480Ser) c.1561-21356A>G (n.1561-21356A>G) c.1558-21356A>G (n.1558-21356A>G) n.1976A>G c.1778A>G (p.Asn593Ser) c.1658A>G (p.Asn553Ser) c.1493A>G (p.Asn498Ser) c.1436A>G (p.Asn479Ser) c.1391A>G (p.Asn464Ser) c.1214A>G (p.Asn405Ser) c.1046A>G (p.Asn349Ser) c.994-21356A>G (n.994-21356A>G) | dbSNP gnomAD v4 |
| 18 | g.49118871T>G | CA402507243 | DYM | c.1784A>C (p.Asn595Thr) c.1619A>C (p.Asn540Thr) c.1049A>C (p.Asn350Thr) c.1616A>C (p.Asn539Thr) c.1451A>C (p.Asn484Thr) c.1564-21356A>C (n.1564-21356A>C) c.1781A>C (p.Asn594Thr) c.1729-21356A>C (n.1729-21356A>C) c.1613A>C (p.Asn538Thr) c.1439A>C (p.Asn480Thr) c.1561-21356A>C (n.1561-21356A>C) c.1558-21356A>C (n.1558-21356A>C) n.1976A>C c.1778A>C (p.Asn593Thr) c.1658A>C (p.Asn553Thr) c.1493A>C (p.Asn498Thr) c.1436A>C (p.Asn479Thr) c.1391A>C (p.Asn464Thr) c.1214A>C (p.Asn405Thr) c.1046A>C (p.Asn349Thr) c.994-21356A>C (n.994-21356A>C) | |
| 18 | g.49118871T= | CA2302066421 | DYM | c.1784A= (p.Asn595=) c.1619A= (p.Asn540=) c.1049A= (p.Asn350=) c.1616A= (p.Asn539=) c.1451A= (p.Asn484=) c.1564-21356A= (n.1564-21356A=) c.1781A= (p.Asn594=) c.1729-21356A= (n.1729-21356A=) c.1613A= (p.Asn538=) c.1439A= (p.Asn480=) c.1561-21356A= (n.1561-21356A=) c.1558-21356A= (n.1558-21356A=) n.1976A= c.1778A= (p.Asn593=) c.1658A= (p.Asn553=) c.1493A= (p.Asn498=) c.1436A= (p.Asn479=) c.1391A= (p.Asn464=) c.1214A= (p.Asn405=) c.1046A= (p.Asn349=) c.994-21356A= (n.994-21356A=) | |
| 18 | g.49118872T>A | CA402507244 | DYM | c.1783A>T (p.Asn595Tyr) c.1618A>T (p.Asn540Tyr) c.1048A>T (p.Asn350Tyr) c.1615A>T (p.Asn539Tyr) c.1450A>T (p.Asn484Tyr) c.1564-21357A>T (n.1564-21357A>T) c.1780A>T (p.Asn594Tyr) c.1729-21357A>T (n.1729-21357A>T) c.1612A>T (p.Asn538Tyr) c.1438A>T (p.Asn480Tyr) c.1561-21357A>T (n.1561-21357A>T) c.1558-21357A>T (n.1558-21357A>T) n.1975A>T c.1777A>T (p.Asn593Tyr) c.1657A>T (p.Asn553Tyr) c.1492A>T (p.Asn498Tyr) c.1435A>T (p.Asn479Tyr) c.1390A>T (p.Asn464Tyr) c.1213A>T (p.Asn405Tyr) c.1045A>T (p.Asn349Tyr) c.994-21357A>T (n.994-21357A>T) | |
| 18 | g.49118872T>C | CA402507245 | DYM | c.1783A>G (p.Asn595Asp) c.1618A>G (p.Asn540Asp) c.1048A>G (p.Asn350Asp) c.1615A>G (p.Asn539Asp) c.1450A>G (p.Asn484Asp) c.1564-21357A>G (n.1564-21357A>G) c.1780A>G (p.Asn594Asp) c.1729-21357A>G (n.1729-21357A>G) c.1612A>G (p.Asn538Asp) c.1438A>G (p.Asn480Asp) c.1561-21357A>G (n.1561-21357A>G) c.1558-21357A>G (n.1558-21357A>G) n.1975A>G c.1777A>G (p.Asn593Asp) c.1657A>G (p.Asn553Asp) c.1492A>G (p.Asn498Asp) c.1435A>G (p.Asn479Asp) c.1390A>G (p.Asn464Asp) c.1213A>G (p.Asn405Asp) c.1045A>G (p.Asn349Asp) c.994-21357A>G (n.994-21357A>G) | |
| 18 | g.49118872T>G | CA402507246 | DYM | c.1783A>C (p.Asn595His) c.1618A>C (p.Asn540His) c.1048A>C (p.Asn350His) c.1615A>C (p.Asn539His) c.1450A>C (p.Asn484His) c.1564-21357A>C (n.1564-21357A>C) c.1780A>C (p.Asn594His) c.1729-21357A>C (n.1729-21357A>C) c.1612A>C (p.Asn538His) c.1438A>C (p.Asn480His) c.1561-21357A>C (n.1561-21357A>C) c.1558-21357A>C (n.1558-21357A>C) n.1975A>C c.1777A>C (p.Asn593His) c.1657A>C (p.Asn553His) c.1492A>C (p.Asn498His) c.1435A>C (p.Asn479His) c.1390A>C (p.Asn464His) c.1213A>C (p.Asn405His) c.1045A>C (p.Asn349His) c.994-21357A>C (n.994-21357A>C) | |
| 18 | g.49118873G>A | CA503936370 | DYM | c.1782C>T (p.Ile594=) c.1617C>T (p.Ile539=) c.1047C>T (p.Ile349=) c.1614C>T (p.Ile538=) c.1449C>T (p.Ile483=) c.1564-21358C>T (n.1564-21358C>T) c.1779C>T (p.Ile593=) c.1729-21358C>T (n.1729-21358C>T) c.1611C>T (p.Ile537=) c.1437C>T (p.Ile479=) c.1561-21358C>T (n.1561-21358C>T) c.1558-21358C>T (n.1558-21358C>T) n.1974C>T c.1776C>T (p.Ile592=) c.1656C>T (p.Ile552=) c.1491C>T (p.Ile497=) c.1434C>T (p.Ile478=) c.1389C>T (p.Ile463=) c.1212C>T (p.Ile404=) c.1044C>T (p.Ile348=) c.994-21358C>T (n.994-21358C>T) | |
| 18 | g.49118873G>C | CA402507247 | DYM | c.1782C>G (p.Ile594Met) c.1617C>G (p.Ile539Met) c.1047C>G (p.Ile349Met) c.1614C>G (p.Ile538Met) c.1449C>G (p.Ile483Met) c.1564-21358C>G (n.1564-21358C>G) c.1779C>G (p.Ile593Met) c.1729-21358C>G (n.1729-21358C>G) c.1611C>G (p.Ile537Met) c.1437C>G (p.Ile479Met) c.1561-21358C>G (n.1561-21358C>G) c.1558-21358C>G (n.1558-21358C>G) n.1974C>G c.1776C>G (p.Ile592Met) c.1656C>G (p.Ile552Met) c.1491C>G (p.Ile497Met) c.1434C>G (p.Ile478Met) c.1389C>G (p.Ile463Met) c.1212C>G (p.Ile404Met) c.1044C>G (p.Ile348Met) c.994-21358C>G (n.994-21358C>G) | |
| 18 | g.49118873G>T | CA503936371 | DYM | c.1782C>A (p.Ile594=) c.1617C>A (p.Ile539=) c.1047C>A (p.Ile349=) c.1614C>A (p.Ile538=) c.1449C>A (p.Ile483=) c.1564-21358C>A (n.1564-21358C>A) c.1779C>A (p.Ile593=) c.1729-21358C>A (n.1729-21358C>A) c.1611C>A (p.Ile537=) c.1437C>A (p.Ile479=) c.1561-21358C>A (n.1561-21358C>A) c.1558-21358C>A (n.1558-21358C>A) n.1974C>A c.1776C>A (p.Ile592=) c.1656C>A (p.Ile552=) c.1491C>A (p.Ile497=) c.1434C>A (p.Ile478=) c.1389C>A (p.Ile463=) c.1212C>A (p.Ile404=) c.1044C>A (p.Ile348=) c.994-21358C>A (n.994-21358C>A) | |
| 18 | g.49118874A>C | CA402507248 | DYM | c.1781T>G (p.Ile594Ser) c.1616T>G (p.Ile539Ser) c.1046T>G (p.Ile349Ser) c.1613T>G (p.Ile538Ser) c.1448T>G (p.Ile483Ser) c.1564-21359T>G (n.1564-21359T>G) c.1778T>G (p.Ile593Ser) c.1729-21359T>G (n.1729-21359T>G) c.1610T>G (p.Ile537Ser) c.1436T>G (p.Ile479Ser) c.1561-21359T>G (n.1561-21359T>G) c.1558-21359T>G (n.1558-21359T>G) n.1973T>G c.1775T>G (p.Ile592Ser) c.1655T>G (p.Ile552Ser) c.1490T>G (p.Ile497Ser) c.1433T>G (p.Ile478Ser) c.1388T>G (p.Ile463Ser) c.1211T>G (p.Ile404Ser) c.1043T>G (p.Ile348Ser) c.994-21359T>G (n.994-21359T>G) | |
| 18 | g.49118874A>G | CA402507249 | DYM | c.1781T>C (p.Ile594Thr) c.1616T>C (p.Ile539Thr) c.1046T>C (p.Ile349Thr) c.1613T>C (p.Ile538Thr) c.1448T>C (p.Ile483Thr) c.1564-21359T>C (n.1564-21359T>C) c.1778T>C (p.Ile593Thr) c.1729-21359T>C (n.1729-21359T>C) c.1610T>C (p.Ile537Thr) c.1436T>C (p.Ile479Thr) c.1561-21359T>C (n.1561-21359T>C) c.1558-21359T>C (n.1558-21359T>C) n.1973T>C c.1775T>C (p.Ile592Thr) c.1655T>C (p.Ile552Thr) c.1490T>C (p.Ile497Thr) c.1433T>C (p.Ile478Thr) c.1388T>C (p.Ile463Thr) c.1211T>C (p.Ile404Thr) c.1043T>C (p.Ile348Thr) c.994-21359T>C (n.994-21359T>C) | |
| 18 | g.49118874A>T | CA402507250 | DYM | c.1781T>A (p.Ile594Asn) c.1616T>A (p.Ile539Asn) c.1046T>A (p.Ile349Asn) c.1613T>A (p.Ile538Asn) c.1448T>A (p.Ile483Asn) c.1564-21359T>A (n.1564-21359T>A) c.1778T>A (p.Ile593Asn) c.1729-21359T>A (n.1729-21359T>A) c.1610T>A (p.Ile537Asn) c.1436T>A (p.Ile479Asn) c.1561-21359T>A (n.1561-21359T>A) c.1558-21359T>A (n.1558-21359T>A) n.1973T>A c.1775T>A (p.Ile592Asn) c.1655T>A (p.Ile552Asn) c.1490T>A (p.Ile497Asn) c.1433T>A (p.Ile478Asn) c.1388T>A (p.Ile463Asn) c.1211T>A (p.Ile404Asn) c.1043T>A (p.Ile348Asn) c.994-21359T>A (n.994-21359T>A) | |
| 18 | g.49118875T>A | CA402507253 | DYM | c.1780A>T (p.Ile594Phe) c.1615A>T (p.Ile539Phe) c.1045A>T (p.Ile349Phe) c.1612A>T (p.Ile538Phe) c.1447A>T (p.Ile483Phe) c.1564-21360A>T (n.1564-21360A>T) c.1777A>T (p.Ile593Phe) c.1729-21360A>T (n.1729-21360A>T) c.1609A>T (p.Ile537Phe) c.1435A>T (p.Ile479Phe) c.1561-21360A>T (n.1561-21360A>T) c.1558-21360A>T (n.1558-21360A>T) n.1972A>T c.1774A>T (p.Ile592Phe) c.1654A>T (p.Ile552Phe) c.1489A>T (p.Ile497Phe) c.1432A>T (p.Ile478Phe) c.1387A>T (p.Ile463Phe) c.1210A>T (p.Ile404Phe) c.1042A>T (p.Ile348Phe) c.994-21360A>T (n.994-21360A>T) | |
| 18 | g.49118875T>C | CA402507252 | DYM | c.1780A>G (p.Ile594Val) c.1615A>G (p.Ile539Val) c.1045A>G (p.Ile349Val) c.1612A>G (p.Ile538Val) c.1447A>G (p.Ile483Val) c.1564-21360A>G (n.1564-21360A>G) c.1777A>G (p.Ile593Val) c.1729-21360A>G (n.1729-21360A>G) c.1609A>G (p.Ile537Val) c.1435A>G (p.Ile479Val) c.1561-21360A>G (n.1561-21360A>G) c.1558-21360A>G (n.1558-21360A>G) n.1972A>G c.1774A>G (p.Ile592Val) c.1654A>G (p.Ile552Val) c.1489A>G (p.Ile497Val) c.1432A>G (p.Ile478Val) c.1387A>G (p.Ile463Val) c.1210A>G (p.Ile404Val) c.1042A>G (p.Ile348Val) c.994-21360A>G (n.994-21360A>G) | gnomAD v4 |
| 18 | g.49118875T>G | CA402507251 | DYM | c.1780A>C (p.Ile594Leu) c.1615A>C (p.Ile539Leu) c.1045A>C (p.Ile349Leu) c.1612A>C (p.Ile538Leu) c.1447A>C (p.Ile483Leu) c.1564-21360A>C (n.1564-21360A>C) c.1777A>C (p.Ile593Leu) c.1729-21360A>C (n.1729-21360A>C) c.1609A>C (p.Ile537Leu) c.1435A>C (p.Ile479Leu) c.1561-21360A>C (n.1561-21360A>C) c.1558-21360A>C (n.1558-21360A>C) n.1972A>C c.1774A>C (p.Ile592Leu) c.1654A>C (p.Ile552Leu) c.1489A>C (p.Ile497Leu) c.1432A>C (p.Ile478Leu) c.1387A>C (p.Ile463Leu) c.1210A>C (p.Ile404Leu) c.1042A>C (p.Ile348Leu) c.994-21360A>C (n.994-21360A>C) | |
| 18 | g.49118876G>A | CA503936372 | DYM | c.1779C>T (p.Ile593=) c.1614C>T (p.Ile538=) c.1044C>T (p.Ile348=) c.1611C>T (p.Ile537=) c.1446C>T (p.Ile482=) c.1564-21361C>T (n.1564-21361C>T) c.1776C>T (p.Ile592=) c.1729-21361C>T (n.1729-21361C>T) c.1608C>T (p.Ile536=) c.1434C>T (p.Ile478=) c.1561-21361C>T (n.1561-21361C>T) c.1558-21361C>T (n.1558-21361C>T) n.1971C>T c.1773C>T (p.Ile591=) c.1653C>T (p.Ile551=) c.1488C>T (p.Ile496=) c.1431C>T (p.Ile477=) c.1386C>T (p.Ile462=) c.1209C>T (p.Ile403=) c.1041C>T (p.Ile347=) c.994-21361C>T (n.994-21361C>T) | |
| 18 | g.49118876G>C | CA174639 | DYM | c.1779C>G (p.Ile593Met) c.1614C>G (p.Ile538Met) c.1044C>G (p.Ile348Met) c.1611C>G (p.Ile537Met) c.1446C>G (p.Ile482Met) c.1564-21361C>G (n.1564-21361C>G) c.1776C>G (p.Ile592Met) c.1729-21361C>G (n.1729-21361C>G) c.1608C>G (p.Ile536Met) c.1434C>G (p.Ile478Met) c.1561-21361C>G (n.1561-21361C>G) c.1558-21361C>G (n.1558-21361C>G) n.1971C>G c.1773C>G (p.Ile591Met) c.1653C>G (p.Ile551Met) c.1488C>G (p.Ile496Met) c.1431C>G (p.Ile477Met) c.1386C>G (p.Ile462Met) c.1209C>G (p.Ile403Met) c.1041C>G (p.Ile347Met) c.994-21361C>G (n.994-21361C>G) | ClinVar dbSNP COSMIC |
| 18 | g.49118876G= | CA2302066422 | DYM | c.1779C= (p.Ile593=) c.1614C= (p.Ile538=) c.1044C= (p.Ile348=) c.1611C= (p.Ile537=) c.1446C= (p.Ile482=) c.1564-21361C= (n.1564-21361C=) c.1776C= (p.Ile592=) c.1729-21361C= (n.1729-21361C=) c.1608C= (p.Ile536=) c.1434C= (p.Ile478=) c.1561-21361C= (n.1561-21361C=) c.1558-21361C= (n.1558-21361C=) n.1971C= c.1773C= (p.Ile591=) c.1653C= (p.Ile551=) c.1488C= (p.Ile496=) c.1431C= (p.Ile477=) c.1386C= (p.Ile462=) c.1209C= (p.Ile403=) c.1041C= (p.Ile347=) c.994-21361C= (n.994-21361C=) | |
| 18 | g.49118876G>T | CA503936373 | DYM | c.1779C>A (p.Ile593=) c.1614C>A (p.Ile538=) c.1044C>A (p.Ile348=) c.1611C>A (p.Ile537=) c.1446C>A (p.Ile482=) c.1564-21361C>A (n.1564-21361C>A) c.1776C>A (p.Ile592=) c.1729-21361C>A (n.1729-21361C>A) c.1608C>A (p.Ile536=) c.1434C>A (p.Ile478=) c.1561-21361C>A (n.1561-21361C>A) c.1558-21361C>A (n.1558-21361C>A) n.1971C>A c.1773C>A (p.Ile591=) c.1653C>A (p.Ile551=) c.1488C>A (p.Ile496=) c.1431C>A (p.Ile477=) c.1386C>A (p.Ile462=) c.1209C>A (p.Ile403=) c.1041C>A (p.Ile347=) c.994-21361C>A (n.994-21361C>A) | |
| 18 | g.49118876_49118897delinsGATCTCTAACATCATTCGAATC | CA2302066423 | DYM | c.1758_1779delinsGATTCGAATGATGTTAGAGATC (p.Val586=) c.1593_1614delinsGATTCGAATGATGTTAGAGATC (p.Val531=) c.1023_1044delinsGATTCGAATGATGTTAGAGATC (p.Val341=) c.1590_1611delinsGATTCGAATGATGTTAGAGATC (p.Val530=) c.1425_1446delinsGATTCGAATGATGTTAGAGATC (p.Val475=) c.1564-21382_1564-21361delinsGATTCGAATGATGTTAGAGATC (n.1564-21382_1564-21361delinsGATTCGAATGATGTTAGAGATC) c.1755_1776delinsGATTCGAATGATGTTAGAGATC (p.Val585=) c.1729-21382_1729-21361delinsGATTCGAATGATGTTAGAGATC (n.1729-21382_1729-21361delinsGATTCGAATGATGTTAGAGATC) c.1587_1608delinsGATTCGAATGATGTTAGAGATC (p.Val529=) c.1413_1434delinsGATTCGAATGATGTTAGAGATC (p.Val471=) c.1561-21382_1561-21361delinsGATTCGAATGATGTTAGAGATC (n.1561-21382_1561-21361delinsGATTCGAATGATGTTAGAGATC) c.1558-21382_1558-21361delinsGATTCGAATGATGTTAGAGATC (n.1558-21382_1558-21361delinsGATTCGAATGATGTTAGAGATC) n.1950_1971delinsGATTCGAATGATGTTAGAGATC c.1752_1773delinsGATTCGAATGATGTTAGAGATC (p.Val584=) c.1632_1653delinsGATTCGAATGATGTTAGAGATC (p.Val544=) c.1467_1488delinsGATTCGAATGATGTTAGAGATC (p.Val489=) c.1410_1431delinsGATTCGAATGATGTTAGAGATC (p.Val470=) c.1365_1386delinsGATTCGAATGATGTTAGAGATC (p.Val455=) c.1188_1209delinsGATTCGAATGATGTTAGAGATC (p.Val396=) c.1020_1041delinsGATTCGAATGATGTTAGAGATC (p.Val340=) c.994-21382_994-21361delinsGATTCGAATGATGTTAGAGATC (n.994-21382_994-21361delinsGATTCGAATGATGTTAGAGATC) | |
| 18 | g.49118877A>C | CA402507254 | DYM | c.1778T>G (p.Ile593Ser) c.1613T>G (p.Ile538Ser) c.1043T>G (p.Ile348Ser) c.1610T>G (p.Ile537Ser) c.1445T>G (p.Ile482Ser) c.1564-21362T>G (n.1564-21362T>G) c.1775T>G (p.Ile592Ser) c.1729-21362T>G (n.1729-21362T>G) c.1607T>G (p.Ile536Ser) c.1433T>G (p.Ile478Ser) c.1561-21362T>G (n.1561-21362T>G) c.1558-21362T>G (n.1558-21362T>G) n.1970T>G c.1772T>G (p.Ile591Ser) c.1652T>G (p.Ile551Ser) c.1487T>G (p.Ile496Ser) c.1430T>G (p.Ile477Ser) c.1385T>G (p.Ile462Ser) c.1208T>G (p.Ile403Ser) c.1040T>G (p.Ile347Ser) c.994-21362T>G (n.994-21362T>G) | |
| 18 | g.49118877A>G | CA402507255 | DYM | c.1778T>C (p.Ile593Thr) c.1613T>C (p.Ile538Thr) c.1043T>C (p.Ile348Thr) c.1610T>C (p.Ile537Thr) c.1445T>C (p.Ile482Thr) c.1564-21362T>C (n.1564-21362T>C) c.1775T>C (p.Ile592Thr) c.1729-21362T>C (n.1729-21362T>C) c.1607T>C (p.Ile536Thr) c.1433T>C (p.Ile478Thr) c.1561-21362T>C (n.1561-21362T>C) c.1558-21362T>C (n.1558-21362T>C) n.1970T>C c.1772T>C (p.Ile591Thr) c.1652T>C (p.Ile551Thr) c.1487T>C (p.Ile496Thr) c.1430T>C (p.Ile477Thr) c.1385T>C (p.Ile462Thr) c.1208T>C (p.Ile403Thr) c.1040T>C (p.Ile347Thr) c.994-21362T>C (n.994-21362T>C) | gnomAD v4 |
| 18 | g.49118877A>T | CA402507256 | DYM | c.1778T>A (p.Ile593Asn) c.1613T>A (p.Ile538Asn) c.1043T>A (p.Ile348Asn) c.1610T>A (p.Ile537Asn) c.1445T>A (p.Ile482Asn) c.1564-21362T>A (n.1564-21362T>A) c.1775T>A (p.Ile592Asn) c.1729-21362T>A (n.1729-21362T>A) c.1607T>A (p.Ile536Asn) c.1433T>A (p.Ile478Asn) c.1561-21362T>A (n.1561-21362T>A) c.1558-21362T>A (n.1558-21362T>A) n.1970T>A c.1772T>A (p.Ile591Asn) c.1652T>A (p.Ile551Asn) c.1487T>A (p.Ile496Asn) c.1430T>A (p.Ile477Asn) c.1385T>A (p.Ile462Asn) c.1208T>A (p.Ile403Asn) c.1040T>A (p.Ile347Asn) c.994-21362T>A (n.994-21362T>A) | |
| 18 | g.49118878_49118898del | CA8958019 | DYM | c.1758_1778del (p.Ile587_Ile593del) c.1593_1613del (p.Ile532_Ile538del) c.1023_1043del (p.Ile342_Ile348del) c.1590_1610del (p.Ile531_Ile537del) c.1425_1445del (p.Ile476_Ile482del) c.1564-21382_1564-21362del (n.1564-21382_1564-21362del) c.1755_1775del (p.Ile586_Ile592del) c.1729-21382_1729-21362del (n.1729-21382_1729-21362del) c.1587_1607del (p.Ile530_Ile536del) c.1413_1433del (p.Ile472_Ile478del) c.1561-21382_1561-21362del (n.1561-21382_1561-21362del) c.1558-21382_1558-21362del (n.1558-21382_1558-21362del) n.1950_1970del c.1752_1772del (p.Ile585_Ile591del) c.1632_1652del (p.Ile545_Ile551del) c.1467_1487del (p.Ile490_Ile496del) c.1410_1430del (p.Ile471_Ile477del) c.1365_1385del (p.Ile456_Ile462del) c.1188_1208del (p.Ile397_Ile403del) c.1020_1040del (p.Ile341_Ile347del) c.994-21382_994-21362del (n.994-21382_994-21362del) | dbSNP ExAC gnomAD v2 |
| 18 | g.49118878T>A | CA402507257 | DYM | c.1777A>T (p.Ile593Phe) c.1612A>T (p.Ile538Phe) c.1042A>T (p.Ile348Phe) c.1609A>T (p.Ile537Phe) c.1444A>T (p.Ile482Phe) c.1564-21363A>T (n.1564-21363A>T) c.1774A>T (p.Ile592Phe) c.1729-21363A>T (n.1729-21363A>T) c.1606A>T (p.Ile536Phe) c.1432A>T (p.Ile478Phe) c.1561-21363A>T (n.1561-21363A>T) c.1558-21363A>T (n.1558-21363A>T) n.1969A>T c.1771A>T (p.Ile591Phe) c.1651A>T (p.Ile551Phe) c.1486A>T (p.Ile496Phe) c.1429A>T (p.Ile477Phe) c.1384A>T (p.Ile462Phe) c.1207A>T (p.Ile403Phe) c.1039A>T (p.Ile347Phe) c.994-21363A>T (n.994-21363A>T) | dbSNP |
| 18 | g.49118878T>C | CA402507258 | DYM | c.1777A>G (p.Ile593Val) c.1612A>G (p.Ile538Val) c.1042A>G (p.Ile348Val) c.1609A>G (p.Ile537Val) c.1444A>G (p.Ile482Val) c.1564-21363A>G (n.1564-21363A>G) c.1774A>G (p.Ile592Val) c.1729-21363A>G (n.1729-21363A>G) c.1606A>G (p.Ile536Val) c.1432A>G (p.Ile478Val) c.1561-21363A>G (n.1561-21363A>G) c.1558-21363A>G (n.1558-21363A>G) n.1969A>G c.1771A>G (p.Ile591Val) c.1651A>G (p.Ile551Val) c.1486A>G (p.Ile496Val) c.1429A>G (p.Ile477Val) c.1384A>G (p.Ile462Val) c.1207A>G (p.Ile403Val) c.1039A>G (p.Ile347Val) c.994-21363A>G (n.994-21363A>G) | |
| 18 | g.49118878T>G | CA402507259 | DYM | c.1777A>C (p.Ile593Leu) c.1612A>C (p.Ile538Leu) c.1042A>C (p.Ile348Leu) c.1609A>C (p.Ile537Leu) c.1444A>C (p.Ile482Leu) c.1564-21363A>C (n.1564-21363A>C) c.1774A>C (p.Ile592Leu) c.1729-21363A>C (n.1729-21363A>C) c.1606A>C (p.Ile536Leu) c.1432A>C (p.Ile478Leu) c.1561-21363A>C (n.1561-21363A>C) c.1558-21363A>C (n.1558-21363A>C) n.1969A>C c.1771A>C (p.Ile591Leu) c.1651A>C (p.Ile551Leu) c.1486A>C (p.Ile496Leu) c.1429A>C (p.Ile477Leu) c.1384A>C (p.Ile462Leu) c.1207A>C (p.Ile403Leu) c.1039A>C (p.Ile347Leu) c.994-21363A>C (n.994-21363A>C) | dbSNP gnomAD v4 |
| 18 | g.49118878T= | CA2302066424 | DYM | c.1777A= (p.Ile593=) c.1612A= (p.Ile538=) c.1042A= (p.Ile348=) c.1609A= (p.Ile537=) c.1444A= (p.Ile482=) c.1564-21363A= (n.1564-21363A=) c.1774A= (p.Ile592=) c.1729-21363A= (n.1729-21363A=) c.1606A= (p.Ile536=) c.1432A= (p.Ile478=) c.1561-21363A= (n.1561-21363A=) c.1558-21363A= (n.1558-21363A=) n.1969A= c.1771A= (p.Ile591=) c.1651A= (p.Ile551=) c.1486A= (p.Ile496=) c.1429A= (p.Ile477=) c.1384A= (p.Ile462=) c.1207A= (p.Ile403=) c.1039A= (p.Ile347=) c.994-21363A= (n.994-21363A=) | |
| 18 | g.49118879C>A | CA8958020 | DYM | c.1776G>T (p.Glu592Asp) c.1611G>T (p.Glu537Asp) c.1041G>T (p.Glu347Asp) c.1608G>T (p.Glu536Asp) c.1443G>T (p.Glu481Asp) c.1564-21364G>T (n.1564-21364G>T) c.1773G>T (p.Glu591Asp) c.1729-21364G>T (n.1729-21364G>T) c.1605G>T (p.Glu535Asp) c.1431G>T (p.Glu477Asp) c.1561-21364G>T (n.1561-21364G>T) c.1558-21364G>T (n.1558-21364G>T) n.1968G>T c.1770G>T (p.Glu590Asp) c.1650G>T (p.Glu550Asp) c.1485G>T (p.Glu495Asp) c.1428G>T (p.Glu476Asp) c.1383G>T (p.Glu461Asp) c.1206G>T (p.Glu402Asp) c.1038G>T (p.Glu346Asp) c.994-21364G>T (n.994-21364G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.49118879C= | CA2302066425 | DYM | c.1776G= (p.Glu592=) c.1611G= (p.Glu537=) c.1041G= (p.Glu347=) c.1608G= (p.Glu536=) c.1443G= (p.Glu481=) c.1564-21364G= (n.1564-21364G=) c.1773G= (p.Glu591=) c.1729-21364G= (n.1729-21364G=) c.1605G= (p.Glu535=) c.1431G= (p.Glu477=) c.1561-21364G= (n.1561-21364G=) c.1558-21364G= (n.1558-21364G=) n.1968G= c.1770G= (p.Glu590=) c.1650G= (p.Glu550=) c.1485G= (p.Glu495=) c.1428G= (p.Glu476=) c.1383G= (p.Glu461=) c.1206G= (p.Glu402=) c.1038G= (p.Glu346=) c.994-21364G= (n.994-21364G=) | |
| 18 | g.49118879C>G | CA402507260 | DYM | c.1776G>C (p.Glu592Asp) c.1611G>C (p.Glu537Asp) c.1041G>C (p.Glu347Asp) c.1608G>C (p.Glu536Asp) c.1443G>C (p.Glu481Asp) c.1564-21364G>C (n.1564-21364G>C) c.1773G>C (p.Glu591Asp) c.1729-21364G>C (n.1729-21364G>C) c.1605G>C (p.Glu535Asp) c.1431G>C (p.Glu477Asp) c.1561-21364G>C (n.1561-21364G>C) c.1558-21364G>C (n.1558-21364G>C) n.1968G>C c.1770G>C (p.Glu590Asp) c.1650G>C (p.Glu550Asp) c.1485G>C (p.Glu495Asp) c.1428G>C (p.Glu476Asp) c.1383G>C (p.Glu461Asp) c.1206G>C (p.Glu402Asp) c.1038G>C (p.Glu346Asp) c.994-21364G>C (n.994-21364G>C) | |
| 18 | g.49118879C>T | CA300360641 | DYM | c.1776G>A (p.Glu592=) c.1611G>A (p.Glu537=) c.1041G>A (p.Glu347=) c.1608G>A (p.Glu536=) c.1443G>A (p.Glu481=) c.1564-21364G>A (n.1564-21364G>A) c.1773G>A (p.Glu591=) c.1729-21364G>A (n.1729-21364G>A) c.1605G>A (p.Glu535=) c.1431G>A (p.Glu477=) c.1561-21364G>A (n.1561-21364G>A) c.1558-21364G>A (n.1558-21364G>A) n.1968G>A c.1770G>A (p.Glu590=) c.1650G>A (p.Glu550=) c.1485G>A (p.Glu495=) c.1428G>A (p.Glu476=) c.1383G>A (p.Glu461=) c.1206G>A (p.Glu402=) c.1038G>A (p.Glu346=) c.994-21364G>A (n.994-21364G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.49118880T>A | CA402507261 | DYM | c.1775A>T (p.Glu592Val) c.1610A>T (p.Glu537Val) c.1040A>T (p.Glu347Val) c.1607A>T (p.Glu536Val) c.1442A>T (p.Glu481Val) c.1564-21365A>T (n.1564-21365A>T) c.1772A>T (p.Glu591Val) c.1729-21365A>T (n.1729-21365A>T) c.1604A>T (p.Glu535Val) c.1430A>T (p.Glu477Val) c.1561-21365A>T (n.1561-21365A>T) c.1558-21365A>T (n.1558-21365A>T) n.1967A>T c.1769A>T (p.Glu590Val) c.1649A>T (p.Glu550Val) c.1484A>T (p.Glu495Val) c.1427A>T (p.Glu476Val) c.1382A>T (p.Glu461Val) c.1205A>T (p.Glu402Val) c.1037A>T (p.Glu346Val) c.994-21365A>T (n.994-21365A>T) |