UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.37025630_37029829dup | CA658760872 | MLH1 | c.1039-7_1558+897dup c.745-7_1264+897dup c.316-7_835+897dup c.68-7_*476+897dup c.*871-7_*1390+897dup c.*150-7_*669+897dup c.76-7_595+897dup c.992-7_1511+897dup n.421-7_940+897dup c.*831-7_*1350+897dup c.678-3154_826+897dup c.*1179-7_*1698+897dup c.*917-7_*1436+897dup n.930-7_1449+897dup n.887-7_2303dup c.114-7_633+897dup c.1014-7_1533+897dup c.832-7_1351+897dup c.16-7_535+897dup c.-36-7_484+897dup c.940-7_1459+897dup | |
| 3 | g.37027134_37033187del | CA330713 | MLH1 | c.1409+1127_1558+4255del c.1115+1127_1264+4255del c.686+1127_835+4255del c.*327+1127_*476+4255del c.*1241+1127_*1390+4255del c.*520+1127_*669+4255del c.446+1127_595+4255del c.1362+1127_1511+4255del n.791+1127_940+4255del c.*1201+1127_*1350+4255del c.678-1650_826+4255del c.*1549+1127_*1698+4255del c.*1287+1127_*1436+4255del n.1300+1127_1449+4255del c.484+1127_633+4255del c.32+1127_181+4255del c.1384+1127_1533+4255del c.177+1127_326+4255del c.1202+1127_1351+4255del c.386+1127_535+4255del c.335+1127_484+4255del c.1310+1127_1459+4255del | ClinVar |
| 3 | g.37027163_37030317del | CA330714 | MLH1 | c.1409+1156_1558+1385del c.1115+1156_1264+1385del c.686+1156_835+1385del c.*327+1156_*476+1385del c.*1241+1156_*1390+1385del c.*520+1156_*669+1385del c.446+1156_595+1385del c.1362+1156_1511+1385del n.791+1156_940+1385del c.*1201+1156_*1350+1385del c.678-1621_826+1385del c.*1549+1156_*1698+1385del c.*1287+1156_*1436+1385del n.1300+1156_1449+1385del n.1257+1156_2791del c.484+1156_633+1385del c.32+1156_181+1385del c.1384+1156_1533+1385del c.177+1156_326+1385del c.1202+1156_1351+1385del c.386+1156_535+1385del c.335+1156_484+1385del c.1310+1156_1459+1385del | ClinVar |
| 3 | g.37028782_37028933del | CA2499216696 | MLH1 | c.1410-2_1558+1del c.1116-2_1264+1del c.687-2_835+1del c.*328-2_*476+1del c.*1242-2_*1390+1del c.*521-2_*669+1del c.447-2_595+1del c.1363-2_1511+1del n.792-2_940+1del c.*1202-2_*1350+1del c.678-2_826+1del c.*1550-2_*1698+1del c.*1288-2_*1436+1del n.1301-2_1449+1del n.1258-2_1407del n.119_269+1del c.485-2_633+1del c.33-2_181+1del c.1385-2_1533+1del c.178-2_326+1del c.1203-2_1351+1del c.387-2_535+1del c.336-2_484+1del c.1311-2_1459+1del | ClinVar dbSNP |
| 3 | g.37028913_37028916del | CA1139655815 | MLH1 | c.1539_1542del (p.Ile513MetfsTer21) c.1245_1248del (p.Ile415MetfsTer21) c.1539_1542del (p.Ile513MetfsTer?) c.816_819del (p.Ile272MetfsTer21) c.*457_*460del (n.*457_*460del) c.*1371_*1374del (n.*1371_*1374del) c.*650_*653del (n.*650_*653del) c.576_579del (p.Ile192MetfsTer21) c.1492_1495del n.921_924del c.*1331_*1334del (n.*1331_*1334del) c.807_810del (p.Ile269MetfsTer21) c.*1679_*1682del (n.*1679_*1682del) c.*1417_*1420del (n.*1417_*1420del) n.1430_1433del n.1387_1390del n.250_253del c.614_617del c.162_165del (p.Ile54MetfsTer21) c.162_165del (p.Ile54MetfsTer?) c.1514_1517del c.307_310del c.1332_1335del (p.Ile444MetfsTer21) c.516_519del (p.Ile172MetfsTer21) c.465_468del (p.Ile155MetfsTer21) c.1440_1443del (p.Ile480MetfsTer21) | ClinVar dbSNP |
| 3 | g.37028916T>A | CA352057004 | MLH1 | c.1542T>A (p.Asn514Lys) c.1248T>A (p.Asn416Lys) c.819T>A (p.Asn273Lys) c.*460T>A (n.*460T>A) c.*1374T>A (n.*1374T>A) c.*653T>A (n.*653T>A) c.579T>A (p.Asn193Lys) c.1495T>A n.924T>A c.*1334T>A (n.*1334T>A) c.810T>A (p.Asn270Lys) c.*1682T>A (n.*1682T>A) c.*1420T>A (n.*1420T>A) n.1433T>A n.1390T>A n.253T>A c.617T>A c.165T>A (p.Asn55Lys) c.1517T>A c.310T>A c.1335T>A (p.Asn445Lys) c.519T>A (p.Asn173Lys) c.468T>A (p.Asn156Lys) c.1443T>A (p.Asn481Lys) | ClinVar dbSNP |
| 3 | g.37028916T>C | CA029270 | MLH1 | c.1542T>C (p.Asn514=) c.1248T>C (p.Asn416=) c.819T>C (p.Asn273=) c.*460T>C (n.*460T>C) c.*1374T>C (n.*1374T>C) c.*653T>C (n.*653T>C) c.579T>C (p.Asn193=) c.1495T>C n.924T>C c.*1334T>C (n.*1334T>C) c.810T>C (p.Asn270=) c.*1682T>C (n.*1682T>C) c.*1420T>C (n.*1420T>C) n.1433T>C n.1390T>C n.253T>C c.617T>C c.165T>C (p.Asn55=) c.1517T>C c.310T>C c.1335T>C (p.Asn445=) c.519T>C (p.Asn173=) c.468T>C (p.Asn156=) c.1443T>C (p.Asn481=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.37028916T>G | CA352057017 | MLH1 | c.1542T>G (p.Asn514Lys) c.1248T>G (p.Asn416Lys) c.819T>G (p.Asn273Lys) c.*460T>G (n.*460T>G) c.*1374T>G (n.*1374T>G) c.*653T>G (n.*653T>G) c.579T>G (p.Asn193Lys) c.1495T>G n.924T>G c.*1334T>G (n.*1334T>G) c.810T>G (p.Asn270Lys) c.*1682T>G (n.*1682T>G) c.*1420T>G (n.*1420T>G) n.1433T>G n.1390T>G n.253T>G c.617T>G c.165T>G (p.Asn55Lys) c.1517T>G c.310T>G c.1335T>G (p.Asn445Lys) c.519T>G (p.Asn173Lys) c.468T>G (p.Asn156Lys) c.1443T>G (p.Asn481Lys) | dbSNP |
| 3 | g.37028916T= | CA1357881948 | MLH1 | c.1542T= (p.Asn514=) c.1248T= (p.Asn416=) c.819T= (p.Asn273=) c.*460T= (n.*460T=) c.*1374T= (n.*1374T=) c.*653T= (n.*653T=) c.579T= (p.Asn193=) c.1495T= n.924T= c.*1334T= (n.*1334T=) c.810T= (p.Asn270=) c.*1682T= (n.*1682T=) c.*1420T= (n.*1420T=) n.1433T= n.1390T= n.253T= c.617T= c.165T= (p.Asn55=) c.1517T= c.310T= c.1335T= (p.Asn445=) c.519T= (p.Asn173=) c.468T= (p.Asn156=) c.1443T= (p.Asn481=) | |
| 3 | g.37028916dup | CA005708 | MLH1 | c.1542dup (p.Glu515Ter) c.1248dup (p.Glu417Ter) c.819dup (p.Glu274Ter) c.*460dup (n.*460dup) c.*1374dup (n.*1374dup) c.*653dup (n.*653dup) c.579dup (p.Glu194Ter) c.1495dup n.924dup c.*1334dup (n.*1334dup) c.810dup (p.Glu271Ter) c.*1682dup (n.*1682dup) c.*1420dup (n.*1420dup) n.1433dup n.1390dup n.253dup c.617dup c.165dup (p.Glu56Ter) c.1517dup c.310dup c.1335dup (p.Glu446Ter) c.519dup (p.Glu174Ter) c.468dup (p.Glu157Ter) c.1443dup (p.Glu482Ter) | ClinVar dbSNP |
| 3 | g.37028917G>A | CA72799228 | MLH1 | c.1543G>A (p.Glu515Lys) c.1249G>A (p.Glu417Lys) c.820G>A (p.Glu274Lys) c.*461G>A (n.*461G>A) c.*1375G>A (n.*1375G>A) c.*654G>A (n.*654G>A) c.580G>A (p.Glu194Lys) c.1496G>A n.925G>A c.*1335G>A (n.*1335G>A) c.811G>A (p.Glu271Lys) c.*1683G>A (n.*1683G>A) c.*1421G>A (n.*1421G>A) n.1434G>A n.1391G>A n.254G>A c.618G>A c.166G>A (p.Glu56Lys) c.1518G>A c.311G>A c.1336G>A (p.Glu446Lys) c.520G>A (p.Glu174Lys) c.469G>A (p.Glu157Lys) c.1444G>A (p.Glu482Lys) | dbSNP |
| 3 | g.37028917G>C | CA352057021 | MLH1 | c.1543G>C (p.Glu515Gln) c.1249G>C (p.Glu417Gln) c.820G>C (p.Glu274Gln) c.*461G>C (n.*461G>C) c.*1375G>C (n.*1375G>C) c.*654G>C (n.*654G>C) c.580G>C (p.Glu194Gln) c.1496G>C n.925G>C c.*1335G>C (n.*1335G>C) c.811G>C (p.Glu271Gln) c.*1683G>C (n.*1683G>C) c.*1421G>C (n.*1421G>C) n.1434G>C n.1391G>C n.254G>C c.618G>C c.166G>C (p.Glu56Gln) c.1518G>C c.311G>C c.1336G>C (p.Glu446Gln) c.520G>C (p.Glu174Gln) c.469G>C (p.Glu157Gln) c.1444G>C (p.Glu482Gln) | dbSNP |
| 3 | g.37028917G= | CA1357881949 | MLH1 | c.1543G= (p.Glu515=) c.1249G= (p.Glu417=) c.820G= (p.Glu274=) c.*461G= (n.*461G=) c.*1375G= (n.*1375G=) c.*654G= (n.*654G=) c.580G= (p.Glu194=) c.1496G= n.925G= c.*1335G= (n.*1335G=) c.811G= (p.Glu271=) c.*1683G= (n.*1683G=) c.*1421G= (n.*1421G=) n.1434G= n.1391G= n.254G= c.618G= c.166G= (p.Glu56=) c.1518G= c.311G= c.1336G= (p.Glu446=) c.520G= (p.Glu174=) c.469G= (p.Glu157=) c.1444G= (p.Glu482=) | |
| 3 | g.37028917G>T | CA352057023 | MLH1 | c.1543G>T (p.Glu515Ter) c.1249G>T (p.Glu417Ter) c.820G>T (p.Glu274Ter) c.*461G>T (n.*461G>T) c.*1375G>T (n.*1375G>T) c.*654G>T (n.*654G>T) c.580G>T (p.Glu194Ter) c.1496G>T n.925G>T c.*1335G>T (n.*1335G>T) c.811G>T (p.Glu271Ter) c.*1683G>T (n.*1683G>T) c.*1421G>T (n.*1421G>T) n.1434G>T n.1391G>T n.254G>T c.618G>T c.166G>T (p.Glu56Ter) c.1518G>T c.311G>T c.1336G>T (p.Glu446Ter) c.520G>T (p.Glu174Ter) c.469G>T (p.Glu157Ter) c.1444G>T (p.Glu482Ter) | ClinVar |
| 3 | g.37028918A>C | CA352057037 | MLH1 | c.1544A>C (p.Glu515Ala) c.1250A>C (p.Glu417Ala) c.821A>C (p.Glu274Ala) c.*462A>C (n.*462A>C) c.*1376A>C (n.*1376A>C) c.*655A>C (n.*655A>C) c.581A>C (p.Glu194Ala) c.1497A>C n.926A>C c.*1336A>C (n.*1336A>C) c.812A>C (p.Glu271Ala) c.*1684A>C (n.*1684A>C) c.*1422A>C (n.*1422A>C) n.1435A>C n.1392A>C n.255A>C c.619A>C c.167A>C (p.Glu56Ala) c.1519A>C c.312A>C c.1337A>C (p.Glu446Ala) c.521A>C (p.Glu174Ala) c.470A>C (p.Glu157Ala) c.1445A>C (p.Glu482Ala) | |
| 3 | g.37028918A>G | CA352057041 | MLH1 | c.1544A>G (p.Glu515Gly) c.1250A>G (p.Glu417Gly) c.821A>G (p.Glu274Gly) c.*462A>G (n.*462A>G) c.*1376A>G (n.*1376A>G) c.*655A>G (n.*655A>G) c.581A>G (p.Glu194Gly) c.1497A>G n.926A>G c.*1336A>G (n.*1336A>G) c.812A>G (p.Glu271Gly) c.*1684A>G (n.*1684A>G) c.*1422A>G (n.*1422A>G) n.1435A>G n.1392A>G n.255A>G c.619A>G c.167A>G (p.Glu56Gly) c.1519A>G c.312A>G c.1337A>G (p.Glu446Gly) c.521A>G (p.Glu174Gly) c.470A>G (p.Glu157Gly) c.1445A>G (p.Glu482Gly) | dbSNP |
| 3 | g.37028918A>T | CA352057043 | MLH1 | c.1544A>T (p.Glu515Val) c.1250A>T (p.Glu417Val) c.821A>T (p.Glu274Val) c.*462A>T (n.*462A>T) c.*1376A>T (n.*1376A>T) c.*655A>T (n.*655A>T) c.581A>T (p.Glu194Val) c.1497A>T n.926A>T c.*1336A>T (n.*1336A>T) c.812A>T (p.Glu271Val) c.*1684A>T (n.*1684A>T) c.*1422A>T (n.*1422A>T) n.1435A>T n.1392A>T n.255A>T c.619A>T c.167A>T (p.Glu56Val) c.1519A>T c.312A>T c.1337A>T (p.Glu446Val) c.521A>T (p.Glu174Val) c.470A>T (p.Glu157Val) c.1445A>T (p.Glu482Val) | dbSNP |
| 3 | g.37028919G>A | CA433080488 | MLH1 | c.1545G>A (p.Glu515=) c.1251G>A (p.Glu417=) c.822G>A (p.Glu274=) c.*463G>A (n.*463G>A) c.*1377G>A (n.*1377G>A) c.*656G>A (n.*656G>A) c.582G>A (p.Glu194=) c.1498G>A n.927G>A c.*1337G>A (n.*1337G>A) c.813G>A (p.Glu271=) c.*1685G>A (n.*1685G>A) c.*1423G>A (n.*1423G>A) n.1436G>A n.1393G>A n.256G>A c.620G>A c.168G>A (p.Glu56=) c.1520G>A c.313G>A c.1338G>A (p.Glu446=) c.522G>A (p.Glu174=) c.471G>A (p.Glu157=) c.1446G>A (p.Glu482=) | ClinVar dbSNP |
| 3 | g.37028919G>C | CA352057046 | MLH1 | c.1545G>C (p.Glu515Asp) c.1251G>C (p.Glu417Asp) c.822G>C (p.Glu274Asp) c.*463G>C (n.*463G>C) c.*1377G>C (n.*1377G>C) c.*656G>C (n.*656G>C) c.582G>C (p.Glu194Asp) c.1498G>C n.927G>C c.*1337G>C (n.*1337G>C) c.813G>C (p.Glu271Asp) c.*1685G>C (n.*1685G>C) c.*1423G>C (n.*1423G>C) n.1436G>C n.1393G>C n.256G>C c.620G>C c.168G>C (p.Glu56Asp) c.1520G>C c.313G>C c.1338G>C (p.Glu446Asp) c.522G>C (p.Glu174Asp) c.471G>C (p.Glu157Asp) c.1446G>C (p.Glu482Asp) | dbSNP |
| 3 | g.37028919G= | CA1357881950 | MLH1 | c.1545G= (p.Glu515=) c.1251G= (p.Glu417=) c.822G= (p.Glu274=) c.*463G= (n.*463G=) c.*1377G= (n.*1377G=) c.*656G= (n.*656G=) c.582G= (p.Glu194=) c.1498G= n.927G= c.*1337G= (n.*1337G=) c.813G= (p.Glu271=) c.*1685G= (n.*1685G=) c.*1423G= (n.*1423G=) n.1436G= n.1393G= n.256G= c.620G= c.168G= (p.Glu56=) c.1520G= c.313G= c.1338G= (p.Glu446=) c.522G= (p.Glu174=) c.471G= (p.Glu157=) c.1446G= (p.Glu482=) | |
| 3 | g.37028919G>T | CA352057047 | MLH1 | c.1545G>T (p.Glu515Asp) c.1251G>T (p.Glu417Asp) c.822G>T (p.Glu274Asp) c.*463G>T (n.*463G>T) c.*1377G>T (n.*1377G>T) c.*656G>T (n.*656G>T) c.582G>T (p.Glu194Asp) c.1498G>T n.927G>T c.*1337G>T (n.*1337G>T) c.813G>T (p.Glu271Asp) c.*1685G>T (n.*1685G>T) c.*1423G>T (n.*1423G>T) n.1436G>T n.1393G>T n.256G>T c.620G>T c.168G>T (p.Glu56Asp) c.1520G>T c.313G>T c.1338G>T (p.Glu446Asp) c.522G>T (p.Glu174Asp) c.471G>T (p.Glu157Asp) c.1446G>T (p.Glu482Asp) | ClinVar |
| 3 | g.37028920C>A | CA352057051 | MLH1 | c.1546C>A (p.Gln516Lys) c.1252C>A (p.Gln418Lys) c.823C>A (p.Gln275Lys) c.*464C>A (n.*464C>A) c.*1378C>A (n.*1378C>A) c.*657C>A (n.*657C>A) c.583C>A (p.Gln195Lys) c.1499C>A n.928C>A c.*1338C>A (n.*1338C>A) c.814C>A (p.Gln272Lys) c.*1686C>A (n.*1686C>A) c.*1424C>A (n.*1424C>A) n.1437C>A n.1394C>A n.257C>A c.621C>A c.169C>A (p.Gln57Lys) c.1521C>A c.314C>A c.1339C>A (p.Gln447Lys) c.523C>A (p.Gln175Lys) c.472C>A (p.Gln158Lys) c.1447C>A (p.Gln483Lys) | dbSNP |
| 3 | g.37028920C= | CA1357881951 | MLH1 | c.1546C= (p.Gln516=) c.1252C= (p.Gln418=) c.823C= (p.Gln275=) c.*464C= (n.*464C=) c.*1378C= (n.*1378C=) c.*657C= (n.*657C=) c.583C= (p.Gln195=) c.1499C= n.928C= c.*1338C= (n.*1338C=) c.814C= (p.Gln272=) c.*1686C= (n.*1686C=) c.*1424C= (n.*1424C=) n.1437C= n.1394C= n.257C= c.621C= c.169C= (p.Gln57=) c.1521C= c.314C= c.1339C= (p.Gln447=) c.523C= (p.Gln175=) c.472C= (p.Gln158=) c.1447C= (p.Gln483=) | |
| 3 | g.37028920C>G | CA352057048 | MLH1 | c.1546C>G (p.Gln516Glu) c.1252C>G (p.Gln418Glu) c.823C>G (p.Gln275Glu) c.*464C>G (n.*464C>G) c.*1378C>G (n.*1378C>G) c.*657C>G (n.*657C>G) c.583C>G (p.Gln195Glu) c.1499C>G n.928C>G c.*1338C>G (n.*1338C>G) c.814C>G (p.Gln272Glu) c.*1686C>G (n.*1686C>G) c.*1424C>G (n.*1424C>G) n.1437C>G n.1394C>G n.257C>G c.621C>G c.169C>G (p.Gln57Glu) c.1521C>G c.314C>G c.1339C>G (p.Gln447Glu) c.523C>G (p.Gln175Glu) c.472C>G (p.Gln158Glu) c.1447C>G (p.Gln483Glu) | ClinVar dbSNP |
| 3 | g.37028920C>T | CA352057049 | MLH1 | c.1546C>T (p.Gln516Ter) c.1252C>T (p.Gln418Ter) c.823C>T (p.Gln275Ter) c.*464C>T (n.*464C>T) c.*1378C>T (n.*1378C>T) c.*657C>T (n.*657C>T) c.583C>T (p.Gln195Ter) c.1499C>T n.928C>T c.*1338C>T (n.*1338C>T) c.814C>T (p.Gln272Ter) c.*1686C>T (n.*1686C>T) c.*1424C>T (n.*1424C>T) n.1437C>T n.1394C>T n.257C>T c.621C>T c.169C>T (p.Gln57Ter) c.1521C>T c.314C>T c.1339C>T (p.Gln447Ter) c.523C>T (p.Gln175Ter) c.472C>T (p.Gln158Ter) c.1447C>T (p.Gln483Ter) | ClinVar dbSNP |
| 3 | g.37028920dup | CA2586965805 | MLH1 | c.1546dup (p.Gln516ProfsTer4) c.1252dup (p.Gln418ProfsTer4) c.823dup (p.Gln275ProfsTer4) c.*464dup (n.*464dup) c.*1378dup (n.*1378dup) c.*657dup (n.*657dup) c.583dup (p.Gln195ProfsTer4) c.1499dup n.928dup c.*1338dup (n.*1338dup) c.814dup (p.Gln272ProfsTer4) c.*1686dup (n.*1686dup) c.*1424dup (n.*1424dup) n.1437dup n.1394dup n.257dup c.621dup c.169dup (p.Gln57ProfsTer4) c.1521dup c.314dup c.1339dup (p.Gln447ProfsTer4) c.523dup (p.Gln175ProfsTer4) c.472dup (p.Gln158ProfsTer4) c.1447dup (p.Gln483ProfsTer4) | |
| 3 | g.37028921A>C | CA352057056 | MLH1 | c.1547A>C (p.Gln516Pro) c.1253A>C (p.Gln418Pro) c.824A>C (p.Gln275Pro) c.*465A>C (n.*465A>C) c.*1379A>C (n.*1379A>C) c.*658A>C (n.*658A>C) c.584A>C (p.Gln195Pro) c.1500A>C n.929A>C c.*1339A>C (n.*1339A>C) c.815A>C (p.Gln272Pro) c.*1687A>C (n.*1687A>C) c.*1425A>C (n.*1425A>C) n.1438A>C n.1395A>C n.258A>C c.622A>C c.170A>C (p.Gln57Pro) c.1522A>C c.315A>C c.1340A>C (p.Gln447Pro) c.524A>C (p.Gln175Pro) c.473A>C (p.Gln158Pro) c.1448A>C (p.Gln483Pro) | ClinVar dbSNP |
| 3 | g.37028921A>G | CA352057063 | MLH1 | c.1547A>G (p.Gln516Arg) c.1253A>G (p.Gln418Arg) c.824A>G (p.Gln275Arg) c.*465A>G (n.*465A>G) c.*1379A>G (n.*1379A>G) c.*658A>G (n.*658A>G) c.584A>G (p.Gln195Arg) c.1500A>G n.929A>G c.*1339A>G (n.*1339A>G) c.815A>G (p.Gln272Arg) c.*1687A>G (n.*1687A>G) c.*1425A>G (n.*1425A>G) n.1438A>G n.1395A>G n.258A>G c.622A>G c.170A>G (p.Gln57Arg) c.1522A>G c.315A>G c.1340A>G (p.Gln447Arg) c.524A>G (p.Gln175Arg) c.473A>G (p.Gln158Arg) c.1448A>G (p.Gln483Arg) | ClinVar dbSNP |
| 3 | g.37028921A>T | CA352057066 | MLH1 | c.1547A>T (p.Gln516Leu) c.1253A>T (p.Gln418Leu) c.824A>T (p.Gln275Leu) c.*465A>T (n.*465A>T) c.*1379A>T (n.*1379A>T) c.*658A>T (n.*658A>T) c.584A>T (p.Gln195Leu) c.1500A>T n.929A>T c.*1339A>T (n.*1339A>T) c.815A>T (p.Gln272Leu) c.*1687A>T (n.*1687A>T) c.*1425A>T (n.*1425A>T) n.1438A>T n.1395A>T n.258A>T c.622A>T c.170A>T (p.Gln57Leu) c.1522A>T c.315A>T c.1340A>T (p.Gln447Leu) c.524A>T (p.Gln175Leu) c.473A>T (p.Gln158Leu) c.1448A>T (p.Gln483Leu) | dbSNP |
| 3 | g.37028921dup | CA2695197889 | MLH1 | c.1547dup (p.His518ThrfsTer2) c.1253dup (p.His420ThrfsTer2) c.824dup (p.His277ThrfsTer2) c.*465dup (n.*465dup) c.*1379dup (n.*1379dup) c.*658dup (n.*658dup) c.584dup (p.His197ThrfsTer2) c.1500dup n.929dup c.*1339dup (n.*1339dup) c.815dup (p.His274ThrfsTer2) c.*1687dup (n.*1687dup) c.*1425dup (n.*1425dup) n.1438dup n.1395dup n.258dup c.622dup c.170dup (p.His59ThrfsTer2) c.1522dup c.315dup c.1340dup (p.His449ThrfsTer2) c.524dup (p.His177ThrfsTer2) c.473dup (p.His160ThrfsTer2) c.1448dup (p.His485ThrfsTer2) | ClinVar |
| 3 | g.37028922G>A | CA433080500 | MLH1 | c.1548G>A (p.Gln516=) c.1254G>A (p.Gln418=) c.825G>A (p.Gln275=) c.*466G>A (n.*466G>A) c.*1380G>A (n.*1380G>A) c.*659G>A (n.*659G>A) c.585G>A (p.Gln195=) c.1501G>A n.930G>A c.*1340G>A (n.*1340G>A) c.816G>A (p.Gln272=) c.*1688G>A (n.*1688G>A) c.*1426G>A (n.*1426G>A) n.1439G>A n.1396G>A n.259G>A c.623G>A c.171G>A (p.Gln57=) c.1523G>A c.316G>A c.1341G>A (p.Gln447=) c.525G>A (p.Gln175=) c.474G>A (p.Gln158=) c.1449G>A (p.Gln483=) | dbSNP |
| 3 | g.37028922G>C | CA352057074 | MLH1 | c.1548G>C (p.Gln516His) c.1254G>C (p.Gln418His) c.825G>C (p.Gln275His) c.*466G>C (n.*466G>C) c.*1380G>C (n.*1380G>C) c.*659G>C (n.*659G>C) c.585G>C (p.Gln195His) c.1501G>C n.930G>C c.*1340G>C (n.*1340G>C) c.816G>C (p.Gln272His) c.*1688G>C (n.*1688G>C) c.*1426G>C (n.*1426G>C) n.1439G>C n.1396G>C n.259G>C c.623G>C c.171G>C (p.Gln57His) c.1523G>C c.316G>C c.1341G>C (p.Gln447His) c.525G>C (p.Gln175His) c.474G>C (p.Gln158His) c.1449G>C (p.Gln483His) | dbSNP |
| 3 | g.37028922G>T | CA352057077 | MLH1 | c.1548G>T (p.Gln516His) c.1254G>T (p.Gln418His) c.825G>T (p.Gln275His) c.*466G>T (n.*466G>T) c.*1380G>T (n.*1380G>T) c.*659G>T (n.*659G>T) c.585G>T (p.Gln195His) c.1501G>T n.930G>T c.*1340G>T (n.*1340G>T) c.816G>T (p.Gln272His) c.*1688G>T (n.*1688G>T) c.*1426G>T (n.*1426G>T) n.1439G>T n.1396G>T n.259G>T c.623G>T c.171G>T (p.Gln57His) c.1523G>T c.316G>T c.1341G>T (p.Gln447His) c.525G>T (p.Gln175His) c.474G>T (p.Gln158His) c.1449G>T (p.Gln483His) | |
| 3 | g.37028924dup | CA2580069721 | MLH1 | c.1550dup (p.His518ThrfsTer2) c.1256dup (p.His420ThrfsTer2) c.827dup (p.His277ThrfsTer2) c.*468dup (n.*468dup) c.*1382dup (n.*1382dup) c.*661dup (n.*661dup) c.587dup (p.His197ThrfsTer2) c.1503dup n.932dup c.*1342dup (n.*1342dup) c.818dup (p.His274ThrfsTer2) c.*1690dup (n.*1690dup) c.*1428dup (n.*1428dup) n.1441dup n.1398dup n.261dup c.625dup c.173dup (p.His59ThrfsTer2) c.1525dup c.318dup c.1343dup (p.His449ThrfsTer2) c.527dup (p.His177ThrfsTer2) c.476dup (p.His160ThrfsTer2) c.1451dup (p.His485ThrfsTer2) | ClinVar |
| 3 | g.37028924del | CA2573052148 | MLH1 | c.1550del (p.Gly517AspfsTer18) c.1256del (p.Gly419AspfsTer18) c.1550del (p.Gly517AspfsTer?) c.827del (p.Gly276AspfsTer18) c.*468del (n.*468del) c.*1382del (n.*1382del) c.*661del (n.*661del) c.587del (p.Gly196AspfsTer18) c.1503del n.932del c.*1342del (n.*1342del) c.818del (p.Gly273AspfsTer18) c.*1690del (n.*1690del) c.*1428del (n.*1428del) n.1441del n.1398del n.261del c.625del c.173del (p.Gly58AspfsTer18) c.173del (p.Gly58AspfsTer?) c.1525del c.318del c.1343del (p.Gly448AspfsTer18) c.527del (p.Gly176AspfsTer18) c.476del (p.Gly159AspfsTer18) c.1451del (p.Gly484AspfsTer18) | ClinVar dbSNP |
| 3 | g.37028923G>A | CA352057080 | MLH1 | c.1549G>A (p.Gly517Arg) c.1255G>A (p.Gly419Arg) c.826G>A (p.Gly276Arg) c.*467G>A (n.*467G>A) c.*1381G>A (n.*1381G>A) c.*660G>A (n.*660G>A) c.586G>A (p.Gly196Arg) c.1502G>A n.931G>A c.*1341G>A (n.*1341G>A) c.817G>A (p.Gly273Arg) c.*1689G>A (n.*1689G>A) c.*1427G>A (n.*1427G>A) n.1440G>A n.1397G>A n.260G>A c.624G>A c.172G>A (p.Gly58Arg) c.1524G>A c.317G>A c.1342G>A (p.Gly448Arg) c.526G>A (p.Gly176Arg) c.475G>A (p.Gly159Arg) c.1450G>A (p.Gly484Arg) | ClinVar dbSNP |
| 3 | g.37028923G>C | CA005718 | MLH1 | c.1549G>C (p.Gly517Arg) c.1255G>C (p.Gly419Arg) c.826G>C (p.Gly276Arg) c.*467G>C (n.*467G>C) c.*1381G>C (n.*1381G>C) c.*660G>C (n.*660G>C) c.586G>C (p.Gly196Arg) c.1502G>C n.931G>C c.*1341G>C (n.*1341G>C) c.817G>C (p.Gly273Arg) c.*1689G>C (n.*1689G>C) c.*1427G>C (n.*1427G>C) n.1440G>C n.1397G>C n.260G>C c.624G>C c.172G>C (p.Gly58Arg) c.1524G>C c.317G>C c.1342G>C (p.Gly448Arg) c.526G>C (p.Gly176Arg) c.475G>C (p.Gly159Arg) c.1450G>C (p.Gly484Arg) | ClinVar dbSNP |
| 3 | g.37028923G= | CA1357881952 | MLH1 | c.1549G= (p.Gly517=) c.1255G= (p.Gly419=) c.826G= (p.Gly276=) c.*467G= (n.*467G=) c.*1381G= (n.*1381G=) c.*660G= (n.*660G=) c.586G= (p.Gly196=) c.1502G= n.931G= c.*1341G= (n.*1341G=) c.817G= (p.Gly273=) c.*1689G= (n.*1689G=) c.*1427G= (n.*1427G=) n.1440G= n.1397G= n.260G= c.624G= c.172G= (p.Gly58=) c.1524G= c.317G= c.1342G= (p.Gly448=) c.526G= (p.Gly176=) c.475G= (p.Gly159=) c.1450G= (p.Gly484=) | |
| 3 | g.37028923G>T | CA005724 | MLH1 | c.1549G>T (p.Gly517Ter) c.1255G>T (p.Gly419Ter) c.826G>T (p.Gly276Ter) c.*467G>T (n.*467G>T) c.*1381G>T (n.*1381G>T) c.*660G>T (n.*660G>T) c.586G>T (p.Gly196Ter) c.1502G>T n.931G>T c.*1341G>T (n.*1341G>T) c.817G>T (p.Gly273Ter) c.*1689G>T (n.*1689G>T) c.*1427G>T (n.*1427G>T) n.1440G>T n.1397G>T n.260G>T c.624G>T c.172G>T (p.Gly58Ter) c.1524G>T c.317G>T c.1342G>T (p.Gly448Ter) c.526G>T (p.Gly176Ter) c.475G>T (p.Gly159Ter) c.1450G>T (p.Gly484Ter) | ClinVar dbSNP |
| 3 | g.37028924G>A | CA352057088 | MLH1 | c.1550G>A (p.Gly517Glu) c.1256G>A (p.Gly419Glu) c.827G>A (p.Gly276Glu) c.*468G>A (n.*468G>A) c.*1382G>A (n.*1382G>A) c.*661G>A (n.*661G>A) c.587G>A (p.Gly196Glu) c.1503G>A n.932G>A c.*1342G>A (n.*1342G>A) c.818G>A (p.Gly273Glu) c.*1690G>A (n.*1690G>A) c.*1428G>A (n.*1428G>A) n.1441G>A n.1398G>A n.261G>A c.625G>A c.173G>A (p.Gly58Glu) c.1525G>A c.318G>A c.1343G>A (p.Gly448Glu) c.527G>A (p.Gly176Glu) c.476G>A (p.Gly159Glu) c.1451G>A (p.Gly484Glu) | dbSNP gnomAD v4 |
| 3 | g.37028924G>C | CA352057091 | MLH1 | c.1550G>C (p.Gly517Ala) c.1256G>C (p.Gly419Ala) c.827G>C (p.Gly276Ala) c.*468G>C (n.*468G>C) c.*1382G>C (n.*1382G>C) c.*661G>C (n.*661G>C) c.587G>C (p.Gly196Ala) c.1503G>C n.932G>C c.*1342G>C (n.*1342G>C) c.818G>C (p.Gly273Ala) c.*1690G>C (n.*1690G>C) c.*1428G>C (n.*1428G>C) n.1441G>C n.1398G>C n.261G>C c.625G>C c.173G>C (p.Gly58Ala) c.1525G>C c.318G>C c.1343G>C (p.Gly448Ala) c.527G>C (p.Gly176Ala) c.476G>C (p.Gly159Ala) c.1451G>C (p.Gly484Ala) | dbSNP |
| 3 | g.37028924G>T | CA352057104 | MLH1 | c.1550G>T (p.Gly517Val) c.1256G>T (p.Gly419Val) c.827G>T (p.Gly276Val) c.*468G>T (n.*468G>T) c.*1382G>T (n.*1382G>T) c.*661G>T (n.*661G>T) c.587G>T (p.Gly196Val) c.1503G>T n.932G>T c.*1342G>T (n.*1342G>T) c.818G>T (p.Gly273Val) c.*1690G>T (n.*1690G>T) c.*1428G>T (n.*1428G>T) n.1441G>T n.1398G>T n.261G>T c.625G>T c.173G>T (p.Gly58Val) c.1525G>T c.318G>T c.1343G>T (p.Gly448Val) c.527G>T (p.Gly176Val) c.476G>T (p.Gly159Val) c.1451G>T (p.Gly484Val) | dbSNP |
| 3 | g.37028925A= | CA1357881953 | MLH1 | c.1551A= (p.Gly517=) c.1257A= (p.Gly419=) c.828A= (p.Gly276=) c.*469A= (n.*469A=) c.*1383A= (n.*1383A=) c.*662A= (n.*662A=) c.588A= (p.Gly196=) c.1504A= n.933A= c.*1343A= (n.*1343A=) c.819A= (p.Gly273=) c.*1691A= (n.*1691A=) c.*1429A= (n.*1429A=) n.1442A= n.1399A= n.262A= c.626A= c.174A= (p.Gly58=) c.1526A= c.319A= c.1344A= (p.Gly448=) c.528A= (p.Gly176=) c.477A= (p.Gly159=) c.1452A= (p.Gly484=) | |
| 3 | g.37028925A>C | CA433080511 | MLH1 | c.1551A>C (p.Gly517=) c.1257A>C (p.Gly419=) c.828A>C (p.Gly276=) c.*469A>C (n.*469A>C) c.*1383A>C (n.*1383A>C) c.*662A>C (n.*662A>C) c.588A>C (p.Gly196=) c.1504A>C n.933A>C c.*1343A>C (n.*1343A>C) c.819A>C (p.Gly273=) c.*1691A>C (n.*1691A>C) c.*1429A>C (n.*1429A>C) n.1442A>C n.1399A>C n.262A>C c.626A>C c.174A>C (p.Gly58=) c.1526A>C c.319A>C c.1344A>C (p.Gly448=) c.528A>C (p.Gly176=) c.477A>C (p.Gly159=) c.1452A>C (p.Gly484=) | dbSNP |
| 3 | g.37028925A>G | CA005754 | MLH1 | c.1551A>G (p.Gly517=) c.1257A>G (p.Gly419=) c.828A>G (p.Gly276=) c.*469A>G (n.*469A>G) c.*1383A>G (n.*1383A>G) c.*662A>G (n.*662A>G) c.588A>G (p.Gly196=) c.1504A>G n.933A>G c.*1343A>G (n.*1343A>G) c.819A>G (p.Gly273=) c.*1691A>G (n.*1691A>G) c.*1429A>G (n.*1429A>G) n.1442A>G n.1399A>G n.262A>G c.626A>G c.174A>G (p.Gly58=) c.1526A>G c.319A>G c.1344A>G (p.Gly448=) c.528A>G (p.Gly176=) c.477A>G (p.Gly159=) c.1452A>G (p.Gly484=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.37028925A>T | CA433080513 | MLH1 | c.1551A>T (p.Gly517=) c.1257A>T (p.Gly419=) c.828A>T (p.Gly276=) c.*469A>T (n.*469A>T) c.*1383A>T (n.*1383A>T) c.*662A>T (n.*662A>T) c.588A>T (p.Gly196=) c.1504A>T n.933A>T c.*1343A>T (n.*1343A>T) c.819A>T (p.Gly273=) c.*1691A>T (n.*1691A>T) c.*1429A>T (n.*1429A>T) n.1442A>T n.1399A>T n.262A>T c.626A>T c.174A>T (p.Gly58=) c.1526A>T c.319A>T c.1344A>T (p.Gly448=) c.528A>T (p.Gly176=) c.477A>T (p.Gly159=) c.1452A>T (p.Gly484=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.37028925_37028926delinsAC | CA1357881954 | MLH1 | c.1551_1552delinsAC (p.Gly517=) c.1257_1258delinsAC (p.Gly419=) c.828_829delinsAC (p.Gly276=) c.*469_*470delinsAC (n.*469_*470delinsAC) c.*1383_*1384delinsAC (n.*1383_*1384delinsAC) c.*662_*663delinsAC (n.*662_*663delinsAC) c.588_589delinsAC (p.Gly196=) c.1504_1505delinsAC n.933_934delinsAC c.*1343_*1344delinsAC (n.*1343_*1344delinsAC) c.819_820delinsAC (p.Gly273=) c.*1691_*1692delinsAC (n.*1691_*1692delinsAC) c.*1429_*1430delinsAC (n.*1429_*1430delinsAC) n.1442_1443delinsAC n.1399_1400delinsAC n.262_263delinsAC c.626_627delinsAC c.174_175delinsAC (p.Gly58=) c.1526_1527delinsAC c.319_320delinsAC c.1344_1345delinsAC (p.Gly448=) c.528_529delinsAC (p.Gly176=) c.477_478delinsAC (p.Gly159=) c.1452_1453delinsAC (p.Gly484=) | |
| 3 | g.37028927_37028936del | CA2586965810 | MLH1 | c.1553_1558+4del c.1259_1264+4del c.830_835+4del c.*471_*476+4del c.*1385_*1390+4del c.*664_*669+4del c.590_595+4del c.1506_1511+4del n.935_940+4del c.*1345_*1350+4del c.821_826+4del c.*1693_*1698+4del c.*1431_*1436+4del n.1444_1449+4del n.1401_1410del n.264_269+4del c.628_633+4del c.176_181+4del c.1528_1533+4del c.321_326+4del c.1346_1351+4del c.530_535+4del c.479_484+4del c.1454_1459+4del | |
| 3 | g.37028926del | CA005769 | MLH1 | c.1552del (p.His518MetfsTer17) c.1258del (p.His420MetfsTer17) c.1552del (p.His518MetfsTer?) c.829del (p.His277MetfsTer17) c.*470del (n.*470del) c.*1384del (n.*1384del) c.*663del (n.*663del) c.589del (p.His197MetfsTer17) c.1505del n.934del c.*1344del (n.*1344del) c.820del (p.His274MetfsTer17) c.*1692del (n.*1692del) c.*1430del (n.*1430del) n.1443del n.1400del n.263del c.627del c.175del (p.His59MetfsTer17) c.175del (p.His59MetfsTer?) c.1527del c.320del c.1345del (p.His449MetfsTer17) c.529del (p.His177MetfsTer17) c.478del (p.His160MetfsTer17) c.1453del (p.His485MetfsTer17) | ClinVar dbSNP |
| 3 | g.37028926C>A | CA352057117 | MLH1 | c.1552C>A (p.His518Asn) c.1258C>A (p.His420Asn) c.829C>A (p.His277Asn) c.*470C>A (n.*470C>A) c.*1384C>A (n.*1384C>A) c.*663C>A (n.*663C>A) c.589C>A (p.His197Asn) c.1505C>A n.934C>A c.*1344C>A (n.*1344C>A) c.820C>A (p.His274Asn) c.*1692C>A (n.*1692C>A) c.*1430C>A (n.*1430C>A) n.1443C>A n.1400C>A n.263C>A c.627C>A c.175C>A (p.His59Asn) c.1527C>A c.320C>A c.1345C>A (p.His449Asn) c.529C>A (p.His177Asn) c.478C>A (p.His160Asn) c.1453C>A (p.His485Asn) | ClinVar dbSNP |