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 |
|---|---|---|---|---|---|
| 3 | g.30691405_30691471dup | CA2580614159 | TGFBR2 | c.1525-15_1576dup n.409-15_460dup n.3121-15_3172dup n.403-15_454dup c.1600-15_1651dup c.1552-15_1603dup c.1477-15_1528dup c.1420-15_1471dup | ClinVar |
| 3 | g.30691426C>A | CA351809488 | TGFBR2 | c.1531C>A (p.Gln511Lys) n.415C>A n.3127C>A n.409C>A c.1606C>A (p.Gln536Lys) c.1558C>A (p.Gln520Lys) c.1483C>A (p.Gln495Lys) c.1426C>A (p.Gln476Lys) | |
| 3 | g.30691426C= | CA1354881656 | TGFBR2 | c.1531C= (p.Gln511=) n.415C= n.3127C= n.409C= c.1606C= (p.Gln536=) c.1558C= (p.Gln520=) c.1483C= (p.Gln495=) c.1426C= (p.Gln476=) | |
| 3 | g.30691426C>G | CA351809489 | TGFBR2 | c.1531C>G (p.Gln511Glu) n.415C>G n.3127C>G n.409C>G c.1606C>G (p.Gln536Glu) c.1558C>G (p.Gln520Glu) c.1483C>G (p.Gln495Glu) c.1426C>G (p.Gln476Glu) | dbSNP |
| 3 | g.30691426C>T | CA16611191 | TGFBR2 | c.1531C>T (p.Gln511Ter) n.415C>T n.3127C>T n.409C>T c.1606C>T (p.Gln536Ter) c.1558C>T (p.Gln520Ter) c.1483C>T (p.Gln495Ter) c.1426C>T (p.Gln476Ter) | ClinVar dbSNP |
| 3 | g.30691427A>C | CA351809490 | TGFBR2 | c.1532A>C (p.Gln511Pro) n.416A>C n.3128A>C n.410A>C c.1607A>C (p.Gln536Pro) c.1559A>C (p.Gln520Pro) c.1484A>C (p.Gln495Pro) c.1427A>C (p.Gln476Pro) | |
| 3 | g.30691427A>G | CA351809491 | TGFBR2 | c.1532A>G (p.Gln511Arg) n.416A>G n.3128A>G n.410A>G c.1607A>G (p.Gln536Arg) c.1559A>G (p.Gln520Arg) c.1484A>G (p.Gln495Arg) c.1427A>G (p.Gln476Arg) | |
| 3 | g.30691427A>T | CA351809492 | TGFBR2 | c.1532A>T (p.Gln511Leu) n.416A>T n.3128A>T n.410A>T c.1607A>T (p.Gln536Leu) c.1559A>T (p.Gln520Leu) c.1484A>T (p.Gln495Leu) c.1427A>T (p.Gln476Leu) | dbSNP |
| 3 | g.30691428G>A | CA432917963 | TGFBR2 | c.1533G>A (p.Gln511=) n.417G>A n.3129G>A n.411G>A c.1608G>A (p.Gln536=) c.1560G>A (p.Gln520=) c.1485G>A (p.Gln495=) c.1428G>A (p.Gln476=) | dbSNP |
| 3 | g.30691428G>C | CA351809493 | TGFBR2 | c.1533G>C (p.Gln511His) n.417G>C n.3129G>C n.411G>C c.1608G>C (p.Gln536His) c.1560G>C (p.Gln520His) c.1485G>C (p.Gln495His) c.1428G>C (p.Gln476His) | |
| 3 | g.30691428G>T | CA351809494 | TGFBR2 | c.1533G>T (p.Gln511His) n.417G>T n.3129G>T n.411G>T c.1608G>T (p.Gln536His) c.1560G>T (p.Gln520His) c.1485G>T (p.Gln495His) c.1428G>T (p.Gln476His) | |
| 3 | g.30691429A>C | CA351809495 | TGFBR2 | c.1534A>C (p.Met512Leu) n.418A>C n.3130A>C n.412A>C c.1609A>C (p.Met537Leu) c.1561A>C (p.Met521Leu) c.1486A>C (p.Met496Leu) c.1429A>C (p.Met477Leu) | |
| 3 | g.30691429A>G | CA351809496 | TGFBR2 | c.1534A>G (p.Met512Val) n.418A>G n.3130A>G n.412A>G c.1609A>G (p.Met537Val) c.1561A>G (p.Met521Val) c.1486A>G (p.Met496Val) c.1429A>G (p.Met477Val) | gnomAD v4 |
| 3 | g.30691429A>T | CA351809497 | TGFBR2 | c.1534A>T (p.Met512Leu) n.418A>T n.3130A>T n.412A>T c.1609A>T (p.Met537Leu) c.1561A>T (p.Met521Leu) c.1486A>T (p.Met496Leu) c.1429A>T (p.Met477Leu) | dbSNP |
| 3 | g.30691430T>A | CA351809499 | TGFBR2 | c.1535T>A (p.Met512Lys) n.419T>A n.3131T>A n.413T>A c.1610T>A (p.Met537Lys) c.1562T>A (p.Met521Lys) c.1487T>A (p.Met496Lys) c.1430T>A (p.Met477Lys) | |
| 3 | g.30691430T>C | CA351809500 | TGFBR2 | c.1535T>C (p.Met512Thr) n.419T>C n.3131T>C n.413T>C c.1610T>C (p.Met537Thr) c.1562T>C (p.Met521Thr) c.1487T>C (p.Met496Thr) c.1430T>C (p.Met477Thr) | |
| 3 | g.30691430T>G | CA351809498 | TGFBR2 | c.1535T>G (p.Met512Arg) n.419T>G n.3131T>G n.413T>G c.1610T>G (p.Met537Arg) c.1562T>G (p.Met521Arg) c.1487T>G (p.Met496Arg) c.1430T>G (p.Met477Arg) | |
| 3 | g.30691430_30691431delinsTG | CA1354881657 | TGFBR2 | c.1535_1536delinsTG (p.Met512=) n.419_420delinsTG n.3131_3132delinsTG n.413_414delinsTG c.1610_1611delinsTG (p.Met537=) c.1562_1563delinsTG (p.Met521=) c.1487_1488delinsTG (p.Met496=) c.1430_1431delinsTG (p.Met477=) | |
| 3 | g.30691431G>A | CA351809501 | TGFBR2 | c.1536G>A (p.Met512Ile) n.420G>A n.3132G>A n.414G>A c.1611G>A (p.Met537Ile) c.1563G>A (p.Met521Ile) c.1488G>A (p.Met496Ile) c.1431G>A (p.Met477Ile) | |
| 3 | g.30691431G>C | CA351809502 | TGFBR2 | c.1536G>C (p.Met512Ile) n.420G>C n.3132G>C n.414G>C c.1611G>C (p.Met537Ile) c.1563G>C (p.Met521Ile) c.1488G>C (p.Met496Ile) c.1431G>C (p.Met477Ile) | |
| 3 | g.30691431G= | CA1354881658 | TGFBR2 | c.1536G= (p.Met512=) n.420G= n.3132G= n.414G= c.1611G= (p.Met537=) c.1563G= (p.Met521=) c.1488G= (p.Met496=) c.1431G= (p.Met477=) | |
| 3 | g.30691431G>T | CA351809503 | TGFBR2 | c.1536G>T (p.Met512Ile) n.420G>T n.3132G>T n.414G>T c.1611G>T (p.Met537Ile) c.1563G>T (p.Met521Ile) c.1488G>T (p.Met496Ile) c.1431G>T (p.Met477Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30691432del | CA915941892 | TGFBR2 | c.1537del (p.Val513CysfsTer5) n.421del n.3133del n.415del c.1612del (p.Val538CysfsTer5) c.1564del (p.Val522CysfsTer5) c.1489del (p.Val497CysfsTer5) c.1432del (p.Val478CysfsTer5) | ClinVar dbSNP |
| 3 | g.30691432G>A | CA351809504 | TGFBR2 | c.1537G>A (p.Val513Met) n.421G>A n.3133G>A n.415G>A c.1612G>A (p.Val538Met) c.1564G>A (p.Val522Met) c.1489G>A (p.Val497Met) c.1432G>A (p.Val478Met) | |
| 3 | g.30691432G>C | CA351809505 | TGFBR2 | c.1537G>C (p.Val513Leu) n.421G>C n.3133G>C n.415G>C c.1612G>C (p.Val538Leu) c.1564G>C (p.Val522Leu) c.1489G>C (p.Val497Leu) c.1432G>C (p.Val478Leu) | dbSNP |
| 3 | g.30691432G= | CA1354881659 | TGFBR2 | c.1537G= (p.Val513=) n.421G= n.3133G= n.415G= c.1612G= (p.Val538=) c.1564G= (p.Val522=) c.1489G= (p.Val497=) c.1432G= (p.Val478=) | |
| 3 | g.30691432G>T | CA351809506 | TGFBR2 | c.1537G>T (p.Val513Leu) n.421G>T n.3133G>T n.415G>T c.1612G>T (p.Val538Leu) c.1564G>T (p.Val522Leu) c.1489G>T (p.Val497Leu) c.1432G>T (p.Val478Leu) | |
| 3 | g.30691433T>A | CA351809507 | TGFBR2 | c.1538T>A (p.Val513Glu) n.422T>A n.3134T>A n.416T>A c.1613T>A (p.Val538Glu) c.1565T>A (p.Val522Glu) c.1490T>A (p.Val497Glu) c.1433T>A (p.Val478Glu) | dbSNP |
| 3 | g.30691433T>C | CA351809508 | TGFBR2 | c.1538T>C (p.Val513Ala) n.422T>C n.3134T>C n.416T>C c.1613T>C (p.Val538Ala) c.1565T>C (p.Val522Ala) c.1490T>C (p.Val497Ala) c.1433T>C (p.Val478Ala) | |
| 3 | g.30691433T>G | CA351809509 | TGFBR2 | c.1538T>G (p.Val513Gly) n.422T>G n.3134T>G n.416T>G c.1613T>G (p.Val538Gly) c.1565T>G (p.Val522Gly) c.1490T>G (p.Val497Gly) c.1433T>G (p.Val478Gly) | |
| 3 | g.30691434G>A | CA432917966 | TGFBR2 | c.1539G>A (p.Val513=) n.423G>A n.3135G>A n.417G>A c.1614G>A (p.Val538=) c.1566G>A (p.Val522=) c.1491G>A (p.Val497=) c.1434G>A (p.Val478=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30691434G>C | CA432917965 | TGFBR2 | c.1539G>C (p.Val513=) n.423G>C n.3135G>C n.417G>C c.1614G>C (p.Val538=) c.1566G>C (p.Val522=) c.1491G>C (p.Val497=) c.1434G>C (p.Val478=) | dbSNP |
| 3 | g.30691434G= | CA1354881660 | TGFBR2 | c.1539G= (p.Val513=) n.423G= n.3135G= n.417G= c.1614G= (p.Val538=) c.1566G= (p.Val522=) c.1491G= (p.Val497=) c.1434G= (p.Val478=) | |
| 3 | g.30691434G>T | CA432917964 | TGFBR2 | c.1539G>T (p.Val513=) n.423G>T n.3135G>T n.417G>T c.1614G>T (p.Val538=) c.1566G>T (p.Val522=) c.1491G>T (p.Val497=) c.1434G>T (p.Val478=) | |
| 3 | g.30691435T>A | CA351809510 | TGFBR2 | c.1540T>A (p.Cys514Ser) n.424T>A n.3136T>A n.418T>A c.1615T>A (p.Cys539Ser) c.1567T>A (p.Cys523Ser) c.1492T>A (p.Cys498Ser) c.1435T>A (p.Cys479Ser) | dbSNP |
| 3 | g.30691435T>C | CA020708 | TGFBR2 | c.1540T>C (p.Cys514Arg) n.424T>C n.3136T>C n.418T>C c.1615T>C (p.Cys539Arg) c.1567T>C (p.Cys523Arg) c.1492T>C (p.Cys498Arg) c.1435T>C (p.Cys479Arg) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30691435T>G | CA351809511 | TGFBR2 | c.1540T>G (p.Cys514Gly) n.424T>G n.3136T>G n.418T>G c.1615T>G (p.Cys539Gly) c.1567T>G (p.Cys523Gly) c.1492T>G (p.Cys498Gly) c.1435T>G (p.Cys479Gly) | |
| 3 | g.30691435T= | CA1354881661 | TGFBR2 | c.1540T= (p.Cys514=) n.424T= n.3136T= n.418T= c.1615T= (p.Cys539=) c.1567T= (p.Cys523=) c.1492T= (p.Cys498=) c.1435T= (p.Cys479=) | |
| 3 | g.30691436G>A | CA351809513 | TGFBR2 | c.1541G>A (p.Cys514Tyr) n.425G>A n.3137G>A n.419G>A c.1616G>A (p.Cys539Tyr) c.1568G>A (p.Cys523Tyr) c.1493G>A (p.Cys498Tyr) c.1436G>A (p.Cys479Tyr) | dbSNP |
| 3 | g.30691436G>C | CA351809514 | TGFBR2 | c.1541G>C (p.Cys514Ser) n.425G>C n.3137G>C n.419G>C c.1616G>C (p.Cys539Ser) c.1568G>C (p.Cys523Ser) c.1493G>C (p.Cys498Ser) c.1436G>C (p.Cys479Ser) | |
| 3 | g.30691436G>T | CA351809512 | TGFBR2 | c.1541G>T (p.Cys514Phe) n.425G>T n.3137G>T n.419G>T c.1616G>T (p.Cys539Phe) c.1568G>T (p.Cys523Phe) c.1493G>T (p.Cys498Phe) c.1436G>T (p.Cys479Phe) | |
| 3 | g.30691436_30691448delinsGTGAGACGTTGAC | CA1354881662 | TGFBR2 | c.1541_1553delinsGTGAGACGTTGAC (p.Cys514=) n.425_437delinsGTGAGACGTTGAC n.3137_3149delinsGTGAGACGTTGAC n.419_431delinsGTGAGACGTTGAC c.1616_1628delinsGTGAGACGTTGAC (p.Cys539=) c.1568_1580delinsGTGAGACGTTGAC (p.Cys523=) c.1493_1505delinsGTGAGACGTTGAC (p.Cys498=) c.1436_1448delinsGTGAGACGTTGAC (p.Cys479=) | |
| 3 | g.30691437T>A | CA351809515 | TGFBR2 | c.1542T>A (p.Cys514Ter) n.426T>A n.3138T>A n.420T>A c.1617T>A (p.Cys539Ter) c.1569T>A (p.Cys523Ter) c.1494T>A (p.Cys498Ter) c.1437T>A (p.Cys479Ter) | dbSNP |
| 3 | g.30691437T>C | CA432917967 | TGFBR2 | c.1542T>C (p.Cys514=) n.426T>C n.3138T>C n.420T>C c.1617T>C (p.Cys539=) c.1569T>C (p.Cys523=) c.1494T>C (p.Cys498=) c.1437T>C (p.Cys479=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30691437T>G | CA351809516 | TGFBR2 | c.1542T>G (p.Cys514Trp) n.426T>G n.3138T>G n.420T>G c.1617T>G (p.Cys539Trp) c.1569T>G (p.Cys523Trp) c.1494T>G (p.Cys498Trp) c.1437T>G (p.Cys479Trp) | |
| 3 | g.30691437T= | CA1354881663 | TGFBR2 | c.1542T= (p.Cys514=) n.426T= n.3138T= n.420T= c.1617T= (p.Cys539=) c.1569T= (p.Cys523=) c.1494T= (p.Cys498=) c.1437T= (p.Cys479=) | |
| 3 | g.30691441_30691452del | CA10575669 | TGFBR2 | c.1546_1557del (p.Thr516_Glu519del) n.430_441del n.3142_3153del n.424_435del c.1621_1632del (p.Thr541_Glu544del) c.1573_1584del (p.Thr525_Glu528del) c.1498_1509del (p.Thr500_Glu503del) c.1441_1452del (p.Thr481_Glu484del) | ClinVar dbSNP |
| 3 | g.30691438G>A | CA351809517 | TGFBR2 | c.1543G>A (p.Glu515Lys) n.427G>A n.3139G>A n.421G>A c.1618G>A (p.Glu540Lys) c.1570G>A (p.Glu524Lys) c.1495G>A (p.Glu499Lys) c.1438G>A (p.Glu480Lys) | |
| 3 | g.30691438G>C | CA351809518 | TGFBR2 | c.1543G>C (p.Glu515Gln) n.427G>C n.3139G>C n.421G>C c.1618G>C (p.Glu540Gln) c.1570G>C (p.Glu524Gln) c.1495G>C (p.Glu499Gln) c.1438G>C (p.Glu480Gln) | |
| 3 | g.30691438G>T | CA351809519 | TGFBR2 | c.1543G>T (p.Glu515Ter) n.427G>T n.3139G>T n.421G>T c.1618G>T (p.Glu540Ter) c.1570G>T (p.Glu524Ter) c.1495G>T (p.Glu499Ter) c.1438G>T (p.Glu480Ter) | dbSNP |