OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| 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.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 |
| 3 | g.30691439A>C | CA351809522 | TGFBR2 | c.1544A>C (p.Glu515Ala) n.428A>C n.3140A>C n.422A>C c.1619A>C (p.Glu540Ala) c.1571A>C (p.Glu524Ala) c.1496A>C (p.Glu499Ala) c.1439A>C (p.Glu480Ala) | |
| 3 | g.30691439A>G | CA351809520 | TGFBR2 | c.1544A>G (p.Glu515Gly) n.428A>G n.3140A>G n.422A>G c.1619A>G (p.Glu540Gly) c.1571A>G (p.Glu524Gly) c.1496A>G (p.Glu499Gly) c.1439A>G (p.Glu480Gly) | |
| 3 | g.30691439A>T | CA351809521 | TGFBR2 | c.1544A>T (p.Glu515Val) n.428A>T n.3140A>T n.422A>T c.1619A>T (p.Glu540Val) c.1571A>T (p.Glu524Val) c.1496A>T (p.Glu499Val) c.1439A>T (p.Glu480Val) | dbSNP |
| 3 | g.30691440G>A | CA432917968 | TGFBR2 | c.1545G>A (p.Glu515=) n.429G>A n.3141G>A n.423G>A c.1620G>A (p.Glu540=) c.1572G>A (p.Glu524=) c.1497G>A (p.Glu499=) c.1440G>A (p.Glu480=) | |
| 3 | g.30691440G>C | CA351809523 | TGFBR2 | c.1545G>C (p.Glu515Asp) n.429G>C n.3141G>C n.423G>C c.1620G>C (p.Glu540Asp) c.1572G>C (p.Glu524Asp) c.1497G>C (p.Glu499Asp) c.1440G>C (p.Glu480Asp) | dbSNP |
| 3 | g.30691440G>T | CA351809524 | TGFBR2 | c.1545G>T (p.Glu515Asp) n.429G>T n.3141G>T n.423G>T c.1620G>T (p.Glu540Asp) c.1572G>T (p.Glu524Asp) c.1497G>T (p.Glu499Asp) c.1440G>T (p.Glu480Asp) | |
| 3 | g.30691441A= | CA1354881664 | TGFBR2 | c.1546A= (p.Thr516=) n.430A= n.3142A= n.424A= c.1621A= (p.Thr541=) c.1573A= (p.Thr525=) c.1498A= (p.Thr500=) c.1441A= (p.Thr481=) | |
| 3 | g.30691441A>C | CA351809525 | TGFBR2 | c.1546A>C (p.Thr516Pro) n.430A>C n.3142A>C n.424A>C c.1621A>C (p.Thr541Pro) c.1573A>C (p.Thr525Pro) c.1498A>C (p.Thr500Pro) c.1441A>C (p.Thr481Pro) | |
| 3 | g.30691441A>G | CA351809526 | TGFBR2 | c.1546A>G (p.Thr516Ala) n.430A>G n.3142A>G n.424A>G c.1621A>G (p.Thr541Ala) c.1573A>G (p.Thr525Ala) c.1498A>G (p.Thr500Ala) c.1441A>G (p.Thr481Ala) | |
| 3 | g.30691441A>T | CA322276 | TGFBR2 | c.1546A>T (p.Thr516Ser) n.430A>T n.3142A>T n.424A>T c.1621A>T (p.Thr541Ser) c.1573A>T (p.Thr525Ser) c.1498A>T (p.Thr500Ser) c.1441A>T (p.Thr481Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30691442C>A | CA351809527 | TGFBR2 | c.1547C>A (p.Thr516Lys) n.431C>A n.3143C>A n.425C>A c.1622C>A (p.Thr541Lys) c.1574C>A (p.Thr525Lys) c.1499C>A (p.Thr500Lys) c.1442C>A (p.Thr481Lys) | |
| 3 | g.30691442C= | CA1354881665 | TGFBR2 | c.1547C= (p.Thr516=) n.431C= n.3143C= n.425C= c.1622C= (p.Thr541=) c.1574C= (p.Thr525=) c.1499C= (p.Thr500=) c.1442C= (p.Thr481=) | |
| 3 | g.30691442C>G | CA351809528 | TGFBR2 | c.1547C>G (p.Thr516Arg) n.431C>G n.3143C>G n.425C>G c.1622C>G (p.Thr541Arg) c.1574C>G (p.Thr525Arg) c.1499C>G (p.Thr500Arg) c.1442C>G (p.Thr481Arg) | dbSNP |
| 3 | g.30691442C>T | CA047010 | TGFBR2 | c.1547C>T (p.Thr516Met) n.431C>T n.3143C>T n.425C>T c.1622C>T (p.Thr541Met) c.1574C>T (p.Thr525Met) c.1499C>T (p.Thr500Met) c.1442C>T (p.Thr481Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30691443G>A | CA047020 | TGFBR2 | c.1548G>A (p.Thr516=) n.432G>A n.3144G>A n.426G>A c.1623G>A (p.Thr541=) c.1575G>A (p.Thr525=) c.1500G>A (p.Thr500=) c.1443G>A (p.Thr481=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30691443G>C | CA432917969 | TGFBR2 | c.1548G>C (p.Thr516=) n.432G>C n.3144G>C n.426G>C c.1623G>C (p.Thr541=) c.1575G>C (p.Thr525=) c.1500G>C (p.Thr500=) c.1443G>C (p.Thr481=) | dbSNP |
| 3 | g.30691443G= | CA1354881666 | TGFBR2 | c.1548G= (p.Thr516=) n.432G= n.3144G= n.426G= c.1623G= (p.Thr541=) c.1575G= (p.Thr525=) c.1500G= (p.Thr500=) c.1443G= (p.Thr481=) | |
| 3 | g.30691443G>T | CA432917970 | TGFBR2 | c.1548G>T (p.Thr516=) n.432G>T n.3144G>T n.426G>T c.1623G>T (p.Thr541=) c.1575G>T (p.Thr525=) c.1500G>T (p.Thr500=) c.1443G>T (p.Thr481=) | |
| 3 | g.30691443_30691446del | CA2559930200 | TGFBR2 | c.1548_1551del (p.Thr518SerfsTer?) n.432_435del n.3144_3147del n.426_429del c.1623_1626del (p.Thr543SerfsTer?) c.1575_1578del (p.Thr527SerfsTer?) c.1500_1503del (p.Thr502SerfsTer?) c.1443_1446del (p.Thr483SerfsTer?) | |
| 3 | g.30691444T>A | CA351809529 | TGFBR2 | c.1549T>A (p.Leu517Met) n.433T>A n.3145T>A n.427T>A c.1624T>A (p.Leu542Met) c.1576T>A (p.Leu526Met) c.1501T>A (p.Leu501Met) c.1444T>A (p.Leu482Met) | ClinVar dbSNP |
| 3 | g.30691444T>C | CA432917971 | TGFBR2 | c.1549T>C (p.Leu517=) n.433T>C n.3145T>C n.427T>C c.1624T>C (p.Leu542=) c.1576T>C (p.Leu526=) c.1501T>C (p.Leu501=) c.1444T>C (p.Leu482=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30691444T>G | CA351809530 | TGFBR2 | c.1549T>G (p.Leu517Val) n.433T>G n.3145T>G n.427T>G c.1624T>G (p.Leu542Val) c.1576T>G (p.Leu526Val) c.1501T>G (p.Leu501Val) c.1444T>G (p.Leu482Val) | dbSNP |
| 3 | g.30691444T= | CA1354881667 | TGFBR2 | c.1549T= (p.Leu517=) n.433T= n.3145T= n.427T= c.1624T= (p.Leu542=) c.1576T= (p.Leu526=) c.1501T= (p.Leu501=) c.1444T= (p.Leu482=) | |
| 3 | g.30691445T>A | CA351809531 | TGFBR2 | c.1550T>A (p.Leu517Ter) n.434T>A n.3146T>A n.428T>A c.1625T>A (p.Leu542Ter) c.1577T>A (p.Leu526Ter) c.1502T>A (p.Leu501Ter) c.1445T>A (p.Leu482Ter) | |
| 3 | g.30691445T>C | CA351809533 | TGFBR2 | c.1550T>C (p.Leu517Ser) n.434T>C n.3146T>C n.428T>C c.1625T>C (p.Leu542Ser) c.1577T>C (p.Leu526Ser) c.1502T>C (p.Leu501Ser) c.1445T>C (p.Leu482Ser) | |
| 3 | g.30691445T>G | CA351809532 | TGFBR2 | c.1550T>G (p.Leu517Trp) n.434T>G n.3146T>G n.428T>G c.1625T>G (p.Leu542Trp) c.1577T>G (p.Leu526Trp) c.1502T>G (p.Leu501Trp) c.1445T>G (p.Leu482Trp) | |
| 3 | g.30691446G>A | CA432917972 | TGFBR2 | c.1551G>A (p.Leu517=) n.435G>A n.3147G>A n.429G>A c.1626G>A (p.Leu542=) c.1578G>A (p.Leu526=) c.1503G>A (p.Leu501=) c.1446G>A (p.Leu482=) | |
| 3 | g.30691446G>C | CA351809534 | TGFBR2 | c.1551G>C (p.Leu517Phe) n.435G>C n.3147G>C n.429G>C c.1626G>C (p.Leu542Phe) c.1578G>C (p.Leu526Phe) c.1503G>C (p.Leu501Phe) c.1446G>C (p.Leu482Phe) | dbSNP |
| 3 | g.30691446G>T | CA351809535 | TGFBR2 | c.1551G>T (p.Leu517Phe) n.435G>T n.3147G>T n.429G>T c.1626G>T (p.Leu542Phe) c.1578G>T (p.Leu526Phe) c.1503G>T (p.Leu501Phe) c.1446G>T (p.Leu482Phe) | gnomAD v4 |
| 3 | g.30691447A>C | CA351809536 | TGFBR2 | c.1552A>C (p.Thr518Pro) n.436A>C n.3148A>C n.430A>C c.1627A>C (p.Thr543Pro) c.1579A>C (p.Thr527Pro) c.1504A>C (p.Thr502Pro) c.1447A>C (p.Thr483Pro) | |
| 3 | g.30691447A>G | CA351809538 | TGFBR2 | c.1552A>G (p.Thr518Ala) n.436A>G n.3148A>G n.430A>G c.1627A>G (p.Thr543Ala) c.1579A>G (p.Thr527Ala) c.1504A>G (p.Thr502Ala) c.1447A>G (p.Thr483Ala) | gnomAD v4 |
| 3 | g.30691447A>T | CA351809537 | TGFBR2 | c.1552A>T (p.Thr518Ser) n.436A>T n.3148A>T n.430A>T c.1627A>T (p.Thr543Ser) c.1579A>T (p.Thr527Ser) c.1504A>T (p.Thr502Ser) c.1447A>T (p.Thr483Ser) | dbSNP COSMIC |
| 3 | g.30691448C>A | CA351809539 | TGFBR2 | c.1553C>A (p.Thr518Asn) n.437C>A n.3149C>A n.431C>A c.1628C>A (p.Thr543Asn) c.1580C>A (p.Thr527Asn) c.1505C>A (p.Thr502Asn) c.1448C>A (p.Thr483Asn) | dbSNP |
| 3 | g.30691448C= | CA1354881668 | TGFBR2 | c.1553C= (p.Thr518=) n.437C= n.3149C= n.431C= c.1628C= (p.Thr543=) c.1580C= (p.Thr527=) c.1505C= (p.Thr502=) c.1448C= (p.Thr483=) | |
| 3 | g.30691448C>G | CA351809540 | TGFBR2 | c.1553C>G (p.Thr518Ser) n.437C>G n.3149C>G n.431C>G c.1628C>G (p.Thr543Ser) c.1580C>G (p.Thr527Ser) c.1505C>G (p.Thr502Ser) c.1448C>G (p.Thr483Ser) | dbSNP gnomAD v4 |
| 3 | g.30691448C>T | CA351809541 | TGFBR2 | c.1553C>T (p.Thr518Ile) n.437C>T n.3149C>T n.431C>T c.1628C>T (p.Thr543Ile) c.1580C>T (p.Thr527Ile) c.1505C>T (p.Thr502Ile) c.1448C>T (p.Thr483Ile) | dbSNP gnomAD v4 |
| 3 | g.30691449T>A | CA432917973 | TGFBR2 | c.1554T>A (p.Thr518=) n.438T>A n.3150T>A n.432T>A c.1629T>A (p.Thr543=) c.1581T>A (p.Thr527=) c.1506T>A (p.Thr502=) c.1449T>A (p.Thr483=) | dbSNP |
| 3 | g.30691449T>C | CA432917974 | TGFBR2 | c.1554T>C (p.Thr518=) n.438T>C n.3150T>C n.432T>C c.1629T>C (p.Thr543=) c.1581T>C (p.Thr527=) c.1506T>C (p.Thr502=) c.1449T>C (p.Thr483=) | dbSNP |
| 3 | g.30691449T>G | CA432917975 | TGFBR2 | c.1554T>G (p.Thr518=) n.438T>G n.3150T>G n.432T>G c.1629T>G (p.Thr543=) c.1581T>G (p.Thr527=) c.1506T>G (p.Thr502=) c.1449T>G (p.Thr483=) | |
| 3 | g.30691449_30691450insTATC | CA2549563429 | TGFBR2 | c.1554_1555insTATC (p.Glu519TyrfsTer23) n.438_439insTATC n.3150_3151insTATC n.432_433insTATC c.1629_1630insTATC (p.Glu544TyrfsTer23) c.1581_1582insTATC (p.Glu528TyrfsTer23) c.1506_1507insTATC (p.Glu503TyrfsTer23) c.1449_1450insTATC (p.Glu484TyrfsTer23) | |
| 3 | g.30691450G>A | CA351809542 | TGFBR2 | c.1555G>A (p.Glu519Lys) n.439G>A n.3151G>A n.433G>A c.1630G>A (p.Glu544Lys) c.1582G>A (p.Glu528Lys) c.1507G>A (p.Glu503Lys) c.1450G>A (p.Glu484Lys) | ClinVar dbSNP COSMIC |
| 3 | g.30691450G>C | CA351809543 | TGFBR2 | c.1555G>C (p.Glu519Gln) n.439G>C n.3151G>C n.433G>C c.1630G>C (p.Glu544Gln) c.1582G>C (p.Glu528Gln) c.1507G>C (p.Glu503Gln) c.1450G>C (p.Glu484Gln) | ClinVar |
| 3 | g.30691450G>T | CA351809544 | TGFBR2 | c.1555G>T (p.Glu519Ter) n.439G>T n.3151G>T n.433G>T c.1630G>T (p.Glu544Ter) c.1582G>T (p.Glu528Ter) c.1507G>T (p.Glu503Ter) c.1450G>T (p.Glu484Ter) | |
| 3 | g.30691451A>C | CA351809547 | TGFBR2 | c.1556A>C (p.Glu519Ala) n.440A>C n.3152A>C n.434A>C c.1631A>C (p.Glu544Ala) c.1583A>C (p.Glu528Ala) c.1508A>C (p.Glu503Ala) c.1451A>C (p.Glu484Ala) | gnomAD v4 |
| 3 | g.30691451A>G | CA351809545 | TGFBR2 | c.1556A>G (p.Glu519Gly) n.440A>G n.3152A>G n.434A>G c.1631A>G (p.Glu544Gly) c.1583A>G (p.Glu528Gly) c.1508A>G (p.Glu503Gly) c.1451A>G (p.Glu484Gly) | dbSNP |
| 3 | g.30691451A>T | CA351809546 | TGFBR2 | c.1556A>T (p.Glu519Val) n.440A>T n.3152A>T n.434A>T c.1631A>T (p.Glu544Val) c.1583A>T (p.Glu528Val) c.1508A>T (p.Glu503Val) c.1451A>T (p.Glu484Val) | dbSNP |
| 3 | g.30691452G>A | CA432917976 | TGFBR2 | c.1557G>A (p.Glu519=) n.441G>A n.3153G>A n.435G>A c.1632G>A (p.Glu544=) c.1584G>A (p.Glu528=) c.1509G>A (p.Glu503=) c.1452G>A (p.Glu484=) | ClinVar dbSNP |
| 3 | g.30691452G>C | CA351809548 | TGFBR2 | c.1557G>C (p.Glu519Asp) n.441G>C n.3153G>C n.435G>C c.1632G>C (p.Glu544Asp) c.1584G>C (p.Glu528Asp) c.1509G>C (p.Glu503Asp) c.1452G>C (p.Glu484Asp) | |
| 3 | g.30691452G= | CA1354881669 | TGFBR2 | c.1557G= (p.Glu519=) n.441G= n.3153G= n.435G= c.1632G= (p.Glu544=) c.1584G= (p.Glu528=) c.1509G= (p.Glu503=) c.1452G= (p.Glu484=) | |
| 3 | g.30691452G>T | CA351809549 | TGFBR2 | c.1557G>T (p.Glu519Asp) n.441G>T n.3153G>T n.435G>T c.1632G>T (p.Glu544Asp) c.1584G>T (p.Glu528Asp) c.1509G>T (p.Glu503Asp) c.1452G>T (p.Glu484Asp) | dbSNP gnomAD v4 |
| 3 | g.30691453T>A | CA351809550 | TGFBR2 | c.1558T>A (p.Cys520Ser) n.442T>A n.3154T>A n.436T>A c.1633T>A (p.Cys545Ser) c.1585T>A (p.Cys529Ser) c.1510T>A (p.Cys504Ser) c.1453T>A (p.Cys485Ser) | dbSNP |
| 3 | g.30691453T>C | CA351809551 | TGFBR2 | c.1558T>C (p.Cys520Arg) n.442T>C n.3154T>C n.436T>C c.1633T>C (p.Cys545Arg) c.1585T>C (p.Cys529Arg) c.1510T>C (p.Cys504Arg) c.1453T>C (p.Cys485Arg) | ClinVar dbSNP |
| 3 | g.30691453T>G | CA351809552 | TGFBR2 | c.1558T>G (p.Cys520Gly) n.442T>G n.3154T>G n.436T>G c.1633T>G (p.Cys545Gly) c.1585T>G (p.Cys529Gly) c.1510T>G (p.Cys504Gly) c.1453T>G (p.Cys485Gly) | dbSNP |
| 3 | g.30691454G>A | CA351809553 | TGFBR2 | c.1559G>A (p.Cys520Tyr) n.443G>A n.3155G>A n.437G>A c.1634G>A (p.Cys545Tyr) c.1586G>A (p.Cys529Tyr) c.1511G>A (p.Cys504Tyr) c.1454G>A (p.Cys485Tyr) | dbSNP |
| 3 | g.30691454G>C | CA351809555 | TGFBR2 | c.1559G>C (p.Cys520Ser) n.443G>C n.3155G>C n.437G>C c.1634G>C (p.Cys545Ser) c.1586G>C (p.Cys529Ser) c.1511G>C (p.Cys504Ser) c.1454G>C (p.Cys485Ser) | |
| 3 | g.30691454G>T | CA351809554 | TGFBR2 | c.1559G>T (p.Cys520Phe) n.443G>T n.3155G>T n.437G>T c.1634G>T (p.Cys545Phe) c.1586G>T (p.Cys529Phe) c.1511G>T (p.Cys504Phe) c.1454G>T (p.Cys485Phe) | |
| 3 | g.30691455C>A | CA351809556 | TGFBR2 | c.1560C>A (p.Cys520Ter) n.444C>A n.3156C>A n.438C>A c.1635C>A (p.Cys545Ter) c.1587C>A (p.Cys529Ter) c.1512C>A (p.Cys504Ter) c.1455C>A (p.Cys485Ter) | |
| 3 | g.30691455C= | CA1354881670 | TGFBR2 | c.1560C= (p.Cys520=) n.444C= n.3156C= n.438C= c.1635C= (p.Cys545=) c.1587C= (p.Cys529=) c.1512C= (p.Cys504=) c.1455C= (p.Cys485=) | |
| 3 | g.30691455C>G | CA351809557 | TGFBR2 | c.1560C>G (p.Cys520Trp) n.444C>G n.3156C>G n.438C>G c.1635C>G (p.Cys545Trp) c.1587C>G (p.Cys529Trp) c.1512C>G (p.Cys504Trp) c.1455C>G (p.Cys485Trp) | dbSNP |
| 3 | g.30691455C>T | CA432917977 | TGFBR2 | c.1560C>T (p.Cys520=) n.444C>T n.3156C>T n.438C>T c.1635C>T (p.Cys545=) c.1587C>T (p.Cys529=) c.1512C>T (p.Cys504=) c.1455C>T (p.Cys485=) | ClinVar dbSNP |
| 3 | g.30691456T>A | CA351809558 | TGFBR2 | c.1561T>A (p.Trp521Arg) n.445T>A n.3157T>A n.439T>A c.1636T>A (p.Trp546Arg) c.1588T>A (p.Trp530Arg) c.1513T>A (p.Trp505Arg) c.1456T>A (p.Trp486Arg) | |
| 3 | g.30691456T>C | CA351809559 | TGFBR2 | c.1561T>C (p.Trp521Arg) n.445T>C n.3157T>C n.439T>C c.1636T>C (p.Trp546Arg) c.1588T>C (p.Trp530Arg) c.1513T>C (p.Trp505Arg) c.1456T>C (p.Trp486Arg) | ClinVar dbSNP |
| 3 | g.30691456T>G | CA351809560 | TGFBR2 | c.1561T>G (p.Trp521Gly) n.445T>G n.3157T>G n.439T>G c.1636T>G (p.Trp546Gly) c.1588T>G (p.Trp530Gly) c.1513T>G (p.Trp505Gly) c.1456T>G (p.Trp486Gly) | |
| 3 | g.30691456T= | CA1354881671 | TGFBR2 | c.1561T= (p.Trp521=) n.445T= n.3157T= n.439T= c.1636T= (p.Trp546=) c.1588T= (p.Trp530=) c.1513T= (p.Trp505=) c.1456T= (p.Trp486=) | |
| 3 | g.30691457G>A | CA351809561 | TGFBR2 | c.1562G>A (p.Trp521Ter) n.446G>A n.3158G>A n.440G>A c.1637G>A (p.Trp546Ter) c.1589G>A (p.Trp530Ter) c.1514G>A (p.Trp505Ter) c.1457G>A (p.Trp486Ter) | ClinVar dbSNP COSMIC |
| 3 | g.30691457G>C | CA351809562 | TGFBR2 | c.1562G>C (p.Trp521Ser) n.446G>C n.3158G>C n.440G>C c.1637G>C (p.Trp546Ser) c.1589G>C (p.Trp530Ser) c.1514G>C (p.Trp505Ser) c.1457G>C (p.Trp486Ser) | |
| 3 | g.30691457G>T | CA351809563 | TGFBR2 | c.1562G>T (p.Trp521Leu) n.446G>T n.3158G>T n.440G>T c.1637G>T (p.Trp546Leu) c.1589G>T (p.Trp530Leu) c.1514G>T (p.Trp505Leu) c.1457G>T (p.Trp486Leu) | |
| 3 | g.30691458G>A | CA351809564 | TGFBR2 | c.1563G>A (p.Trp521Ter) n.447G>A n.3159G>A n.441G>A c.1638G>A (p.Trp546Ter) c.1590G>A (p.Trp530Ter) c.1515G>A (p.Trp505Ter) c.1458G>A (p.Trp486Ter) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30691458G>C | CA351809565 | TGFBR2 | c.1563G>C (p.Trp521Cys) n.447G>C n.3159G>C n.441G>C c.1638G>C (p.Trp546Cys) c.1590G>C (p.Trp530Cys) c.1515G>C (p.Trp505Cys) c.1458G>C (p.Trp486Cys) | |
| 3 | g.30691458G= | CA1354881672 | TGFBR2 | c.1563G= (p.Trp521=) n.447G= n.3159G= n.441G= c.1638G= (p.Trp546=) c.1590G= (p.Trp530=) c.1515G= (p.Trp505=) c.1458G= (p.Trp486=) | |
| 3 | g.30691458G>T | CA351809566 | TGFBR2 | c.1563G>T (p.Trp521Cys) n.447G>T n.3159G>T n.441G>T c.1638G>T (p.Trp546Cys) c.1590G>T (p.Trp530Cys) c.1515G>T (p.Trp505Cys) c.1458G>T (p.Trp486Cys) | COSMIC COSMIC |
| 3 | g.30691459G>A | CA322561 | TGFBR2 | c.1564G>A (p.Asp522Asn) n.448G>A n.3160G>A n.442G>A c.1639G>A (p.Asp547Asn) c.1591G>A (p.Asp531Asn) c.1516G>A (p.Asp506Asn) c.1459G>A (p.Asp487Asn) | ClinVar dbSNP |
| 3 | g.30691459G>C | CA351809568 | TGFBR2 | c.1564G>C (p.Asp522His) n.448G>C n.3160G>C n.442G>C c.1639G>C (p.Asp547His) c.1591G>C (p.Asp531His) c.1516G>C (p.Asp506His) c.1459G>C (p.Asp487His) | dbSNP |
| 3 | g.30691459G= | CA1354881673 | TGFBR2 | c.1564G= (p.Asp522=) n.448G= n.3160G= n.442G= c.1639G= (p.Asp547=) c.1591G= (p.Asp531=) c.1516G= (p.Asp506=) c.1459G= (p.Asp487=) | |
| 3 | g.30691459G>T | CA351809567 | TGFBR2 | c.1564G>T (p.Asp522Tyr) n.448G>T n.3160G>T n.442G>T c.1639G>T (p.Asp547Tyr) c.1591G>T (p.Asp531Tyr) c.1516G>T (p.Asp506Tyr) c.1459G>T (p.Asp487Tyr) | |
| 3 | g.30691460A= | CA1354881674 | TGFBR2 | c.1565A= (p.Asp522=) n.449A= n.3161A= n.443A= c.1640A= (p.Asp547=) c.1592A= (p.Asp531=) c.1517A= (p.Asp506=) c.1460A= (p.Asp487=) | |
| 3 | g.30691460A>C | CA16611213 | TGFBR2 | c.1565A>C (p.Asp522Ala) n.449A>C n.3161A>C n.443A>C c.1640A>C (p.Asp547Ala) c.1592A>C (p.Asp531Ala) c.1517A>C (p.Asp506Ala) c.1460A>C (p.Asp487Ala) | ClinVar dbSNP |
| 3 | g.30691460A>G | CA351809569 | TGFBR2 | c.1565A>G (p.Asp522Gly) n.449A>G n.3161A>G n.443A>G c.1640A>G (p.Asp547Gly) c.1592A>G (p.Asp531Gly) c.1517A>G (p.Asp506Gly) c.1460A>G (p.Asp487Gly) | |
| 3 | g.30691460A>T | CA10587573 | TGFBR2 | c.1565A>T (p.Asp522Val) n.449A>T n.3161A>T n.443A>T c.1640A>T (p.Asp547Val) c.1592A>T (p.Asp531Val) c.1517A>T (p.Asp506Val) c.1460A>T (p.Asp487Val) | ClinVar dbSNP |
| 3 | g.30691461C>A | CA351809570 | TGFBR2 | c.1566C>A (p.Asp522Glu) n.450C>A n.3162C>A n.444C>A c.1641C>A (p.Asp547Glu) c.1593C>A (p.Asp531Glu) c.1518C>A (p.Asp506Glu) c.1461C>A (p.Asp487Glu) | dbSNP |
| 3 | g.30691461C= | CA1354881675 | TGFBR2 | c.1566C= (p.Asp522=) n.450C= n.3162C= n.444C= c.1641C= (p.Asp547=) c.1593C= (p.Asp531=) c.1518C= (p.Asp506=) c.1461C= (p.Asp487=) | |
| 3 | g.30691461C>G | CA351809571 | TGFBR2 | c.1566C>G (p.Asp522Glu) n.450C>G n.3162C>G n.444C>G c.1641C>G (p.Asp547Glu) c.1593C>G (p.Asp531Glu) c.1518C>G (p.Asp506Glu) c.1461C>G (p.Asp487Glu) | dbSNP |
| 3 | g.30691461C>T | CA432917978 | TGFBR2 | c.1566C>T (p.Asp522=) n.450C>T n.3162C>T n.444C>T c.1641C>T (p.Asp547=) c.1593C>T (p.Asp531=) c.1518C>T (p.Asp506=) c.1461C>T (p.Asp487=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30691462C>A | CA351809572 | TGFBR2 | c.1567C>A (p.His523Asn) n.451C>A n.3163C>A n.445C>A c.1642C>A (p.His548Asn) c.1594C>A (p.His532Asn) c.1519C>A (p.His507Asn) c.1462C>A (p.His488Asn) | |
| 3 | g.30691462C= | CA1354881676 | TGFBR2 | c.1567C= (p.His523=) n.451C= n.3163C= n.445C= c.1642C= (p.His548=) c.1594C= (p.His532=) c.1519C= (p.His507=) c.1462C= (p.His488=) | |
| 3 | g.30691462C>G | CA047045 | TGFBR2 | c.1567C>G (p.His523Asp) n.451C>G n.3163C>G n.445C>G c.1642C>G (p.His548Asp) c.1594C>G (p.His532Asp) c.1519C>G (p.His507Asp) c.1462C>G (p.His488Asp) | dbSNP ExAC gnomAD v2 |
| 3 | g.30691462C>T | CA351809573 | TGFBR2 | c.1567C>T (p.His523Tyr) n.451C>T n.3163C>T n.445C>T c.1642C>T (p.His548Tyr) c.1594C>T (p.His532Tyr) c.1519C>T (p.His507Tyr) c.1462C>T (p.His488Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30691463A= | CA1354881677 | TGFBR2 | c.1568A= (p.His523=) n.452A= n.3164A= n.446A= c.1643A= (p.His548=) c.1595A= (p.His532=) c.1520A= (p.His507=) c.1463A= (p.His488=) | |
| 3 | g.30691463A>C | CA351809574 | TGFBR2 | c.1568A>C (p.His523Pro) n.452A>C n.3164A>C n.446A>C c.1643A>C (p.His548Pro) c.1595A>C (p.His532Pro) c.1520A>C (p.His507Pro) c.1463A>C (p.His488Pro) | dbSNP |
| 3 | g.30691463A>G | CA351809575 | TGFBR2 | c.1568A>G (p.His523Arg) n.452A>G n.3164A>G n.446A>G c.1643A>G (p.His548Arg) c.1595A>G (p.His532Arg) c.1520A>G (p.His507Arg) c.1463A>G (p.His488Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30691463A>T | CA351809576 | TGFBR2 | c.1568A>T (p.His523Leu) n.452A>T n.3164A>T n.446A>T c.1643A>T (p.His548Leu) c.1595A>T (p.His532Leu) c.1520A>T (p.His507Leu) c.1463A>T (p.His488Leu) | dbSNP |
| 3 | g.30691464C>A | CA351809578 | TGFBR2 | c.1569C>A (p.His523Gln) n.453C>A n.3165C>A n.447C>A c.1644C>A (p.His548Gln) c.1596C>A (p.His532Gln) c.1521C>A (p.His507Gln) c.1464C>A (p.His488Gln) | |
| 3 | g.30691464C= | CA1354881678 | TGFBR2 | c.1569C= (p.His523=) n.453C= n.3165C= n.447C= c.1644C= (p.His548=) c.1596C= (p.His532=) c.1521C= (p.His507=) c.1464C= (p.His488=) | |
| 3 | g.30691464C>G | CA351809577 | TGFBR2 | c.1569C>G (p.His523Gln) n.453C>G n.3165C>G n.447C>G c.1644C>G (p.His548Gln) c.1596C>G (p.His532Gln) c.1521C>G (p.His507Gln) c.1464C>G (p.His488Gln) | dbSNP |
| 3 | g.30691464C>T | CA047065 | TGFBR2 | c.1569C>T (p.His523=) n.453C>T n.3165C>T n.447C>T c.1644C>T (p.His548=) c.1596C>T (p.His532=) c.1521C>T (p.His507=) c.1464C>T (p.His488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.30691465G>A | CA020712 | TGFBR2 | c.1570G>A (p.Asp524Asn) n.454G>A n.3166G>A n.448G>A c.1645G>A (p.Asp549Asn) c.1597G>A (p.Asp533Asn) c.1522G>A (p.Asp508Asn) c.1465G>A (p.Asp489Asn) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30691465G>C | CA351809579 | TGFBR2 | c.1570G>C (p.Asp524His) n.454G>C n.3166G>C n.448G>C c.1645G>C (p.Asp549His) c.1597G>C (p.Asp533His) c.1522G>C (p.Asp508His) c.1465G>C (p.Asp489His) | dbSNP |
| 3 | g.30691465G= | CA1354881679 | TGFBR2 | c.1570G= (p.Asp524=) n.454G= n.3166G= n.448G= c.1645G= (p.Asp549=) c.1597G= (p.Asp533=) c.1522G= (p.Asp508=) c.1465G= (p.Asp489=) | |
| 3 | g.30691465G>T | CA020717 | TGFBR2 | c.1570G>T (p.Asp524Tyr) n.454G>T n.3166G>T n.448G>T c.1645G>T (p.Asp549Tyr) c.1597G>T (p.Asp533Tyr) c.1522G>T (p.Asp508Tyr) c.1465G>T (p.Asp489Tyr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.30691466A>C | CA351809580 | TGFBR2 | c.1571A>C (p.Asp524Ala) n.455A>C n.3167A>C n.449A>C c.1646A>C (p.Asp549Ala) c.1598A>C (p.Asp533Ala) c.1523A>C (p.Asp508Ala) c.1466A>C (p.Asp489Ala) | |
| 3 | g.30691466A>G | CA351809581 | TGFBR2 | c.1571A>G (p.Asp524Gly) n.455A>G n.3167A>G n.449A>G c.1646A>G (p.Asp549Gly) c.1598A>G (p.Asp533Gly) c.1523A>G (p.Asp508Gly) c.1466A>G (p.Asp489Gly) | COSMIC COSMIC |
| 3 | g.30691466A>T | CA351809582 | TGFBR2 | c.1571A>T (p.Asp524Val) n.455A>T n.3167A>T n.449A>T c.1646A>T (p.Asp549Val) c.1598A>T (p.Asp533Val) c.1523A>T (p.Asp508Val) c.1466A>T (p.Asp489Val) | |
| 3 | g.30691467C>A | CA351809583 | TGFBR2 | c.1572C>A (p.Asp524Glu) n.456C>A n.3168C>A n.450C>A c.1647C>A (p.Asp549Glu) c.1599C>A (p.Asp533Glu) c.1524C>A (p.Asp508Glu) c.1467C>A (p.Asp489Glu) | |
| 3 | g.30691467C>G | CA351809584 | TGFBR2 | c.1572C>G (p.Asp524Glu) n.456C>G n.3168C>G n.450C>G c.1647C>G (p.Asp549Glu) c.1599C>G (p.Asp533Glu) c.1524C>G (p.Asp508Glu) c.1467C>G (p.Asp489Glu) | dbSNP |
| 3 | g.30691467C>T | CA432917979 | TGFBR2 | c.1572C>T (p.Asp524=) n.456C>T n.3168C>T n.450C>T c.1647C>T (p.Asp549=) c.1599C>T (p.Asp533=) c.1524C>T (p.Asp508=) c.1467C>T (p.Asp489=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30691468C>A | CA351809585 | TGFBR2 | c.1573C>A (p.Pro525Thr) n.457C>A n.3169C>A n.451C>A c.1648C>A (p.Pro550Thr) c.1600C>A (p.Pro534Thr) c.1525C>A (p.Pro509Thr) c.1468C>A (p.Pro490Thr) | dbSNP |
| 3 | g.30691468C>G | CA351809586 | TGFBR2 | c.1573C>G (p.Pro525Ala) n.457C>G n.3169C>G n.451C>G c.1648C>G (p.Pro550Ala) c.1600C>G (p.Pro534Ala) c.1525C>G (p.Pro509Ala) c.1468C>G (p.Pro490Ala) | dbSNP |
| 3 | g.30691468C>T | CA351809587 | TGFBR2 | c.1573C>T (p.Pro525Ser) n.457C>T n.3169C>T n.451C>T c.1648C>T (p.Pro550Ser) c.1600C>T (p.Pro534Ser) c.1525C>T (p.Pro509Ser) c.1468C>T (p.Pro490Ser) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30691469C>A | CA351809589 | TGFBR2 | c.1574C>A (p.Pro525Gln) n.458C>A n.3170C>A n.452C>A c.1649C>A (p.Pro550Gln) c.1601C>A (p.Pro534Gln) c.1526C>A (p.Pro509Gln) c.1469C>A (p.Pro490Gln) | COSMIC COSMIC |
| 3 | g.30691469C= | CA1354881680 | TGFBR2 | c.1574C= (p.Pro525=) n.458C= n.3170C= n.452C= c.1649C= (p.Pro550=) c.1601C= (p.Pro534=) c.1526C= (p.Pro509=) c.1469C= (p.Pro490=) | |
| 3 | g.30691469C>G | CA351809590 | TGFBR2 | c.1574C>G (p.Pro525Arg) n.458C>G n.3170C>G n.452C>G c.1649C>G (p.Pro550Arg) c.1601C>G (p.Pro534Arg) c.1526C>G (p.Pro509Arg) c.1469C>G (p.Pro490Arg) | |
| 3 | g.30691469C>T | CA351809588 | TGFBR2 | c.1574C>T (p.Pro525Leu) n.458C>T n.3170C>T n.452C>T c.1649C>T (p.Pro550Leu) c.1601C>T (p.Pro534Leu) c.1526C>T (p.Pro509Leu) c.1469C>T (p.Pro490Leu) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30691470A= | CA1354881681 | TGFBR2 | c.1575A= (p.Pro525=) n.459A= n.3171A= n.453A= c.1650A= (p.Pro550=) c.1602A= (p.Pro534=) c.1527A= (p.Pro509=) c.1470A= (p.Pro490=) | |
| 3 | g.30691470A>C | CA432917981 | TGFBR2 | c.1575A>C (p.Pro525=) n.459A>C n.3171A>C n.453A>C c.1650A>C (p.Pro550=) c.1602A>C (p.Pro534=) c.1527A>C (p.Pro509=) c.1470A>C (p.Pro490=) | |
| 3 | g.30691470A>G | CA047083 | TGFBR2 | c.1575A>G (p.Pro525=) n.459A>G n.3171A>G n.453A>G c.1650A>G (p.Pro550=) c.1602A>G (p.Pro534=) c.1527A>G (p.Pro509=) c.1470A>G (p.Pro490=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30691470A>T | CA432917980 | TGFBR2 | c.1575A>T (p.Pro525=) n.459A>T n.3171A>T n.453A>T c.1650A>T (p.Pro550=) c.1602A>T (p.Pro534=) c.1527A>T (p.Pro509=) c.1470A>T (p.Pro490=) | dbSNP |
| 3 | g.30691471G>A | CA351809591 | TGFBR2 | c.1576G>A (p.Glu526Lys) n.460G>A n.3172G>A n.454G>A c.1651G>A (p.Glu551Lys) c.1603G>A (p.Glu535Lys) c.1528G>A (p.Glu510Lys) c.1471G>A (p.Glu491Lys) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30691471G>C | CA020721 | TGFBR2 | c.1576G>C (p.Glu526Gln) n.460G>C n.3172G>C n.454G>C c.1651G>C (p.Glu551Gln) c.1603G>C (p.Glu535Gln) c.1528G>C (p.Glu510Gln) c.1471G>C (p.Glu491Gln) | ClinVar dbSNP |
| 3 | g.30691471G= | CA1354881682 | TGFBR2 | c.1576G= (p.Glu526=) n.460G= n.3172G= n.454G= c.1651G= (p.Glu551=) c.1603G= (p.Glu535=) c.1528G= (p.Glu510=) c.1471G= (p.Glu491=) | |
| 3 | g.30691471G>T | CA351809592 | TGFBR2 | c.1576G>T (p.Glu526Ter) n.460G>T n.3172G>T n.454G>T c.1651G>T (p.Glu551Ter) c.1603G>T (p.Glu535Ter) c.1528G>T (p.Glu510Ter) c.1471G>T (p.Glu491Ter) | |
| 3 | g.30691472A= | CA1354881683 | TGFBR2 | c.1577A= (p.Glu526=) n.461A= n.3173A= n.455A= c.1652A= (p.Glu551=) c.1604A= (p.Glu535=) c.1529A= (p.Glu510=) c.1472A= (p.Glu491=) | |
| 3 | g.30691472A>C | CA351809593 | TGFBR2 | c.1577A>C (p.Glu526Ala) n.461A>C n.3173A>C n.455A>C c.1652A>C (p.Glu551Ala) c.1604A>C (p.Glu535Ala) c.1529A>C (p.Glu510Ala) c.1472A>C (p.Glu491Ala) | |
| 3 | g.30691472A>G | CA351809594 | TGFBR2 | c.1577A>G (p.Glu526Gly) n.461A>G n.3173A>G n.455A>G c.1652A>G (p.Glu551Gly) c.1604A>G (p.Glu535Gly) c.1529A>G (p.Glu510Gly) c.1472A>G (p.Glu491Gly) | dbSNP COSMIC COSMIC |
| 3 | g.30691472A>T | CA351809595 | TGFBR2 | c.1577A>T (p.Glu526Val) n.461A>T n.3173A>T n.455A>T c.1652A>T (p.Glu551Val) c.1604A>T (p.Glu535Val) c.1529A>T (p.Glu510Val) c.1472A>T (p.Glu491Val) | ClinVar dbSNP |
| 3 | g.30691473G>A | CA432917982 | TGFBR2 | c.1578G>A (p.Glu526=) n.462G>A n.3174G>A n.456G>A c.1653G>A (p.Glu551=) c.1605G>A (p.Glu535=) c.1530G>A (p.Glu510=) c.1473G>A (p.Glu491=) | |
| 3 | g.30691473G>C | CA351809596 | TGFBR2 | c.1578G>C (p.Glu526Asp) n.462G>C n.3174G>C n.456G>C c.1653G>C (p.Glu551Asp) c.1605G>C (p.Glu535Asp) c.1530G>C (p.Glu510Asp) c.1473G>C (p.Glu491Asp) | dbSNP |
| 3 | g.30691473G>T | CA351809597 | TGFBR2 | c.1578G>T (p.Glu526Asp) n.462G>T n.3174G>T n.456G>T c.1653G>T (p.Glu551Asp) c.1605G>T (p.Glu535Asp) c.1530G>T (p.Glu510Asp) c.1473G>T (p.Glu491Asp) | dbSNP gnomAD v4 |
| 3 | g.30691474G>A | CA351809598 | TGFBR2 | c.1579G>A (p.Ala527Thr) n.463G>A n.3175G>A n.457G>A c.1654G>A (p.Ala552Thr) c.1606G>A (p.Ala536Thr) c.1531G>A (p.Ala511Thr) c.1474G>A (p.Ala492Thr) | ClinVar dbSNP |
| 3 | g.30691474G>C | CA351809599 | TGFBR2 | c.1579G>C (p.Ala527Pro) n.463G>C n.3175G>C n.457G>C c.1654G>C (p.Ala552Pro) c.1606G>C (p.Ala536Pro) c.1531G>C (p.Ala511Pro) c.1474G>C (p.Ala492Pro) | dbSNP |
| 3 | g.30691474G>T | CA351809600 | TGFBR2 | c.1579G>T (p.Ala527Ser) n.463G>T n.3175G>T n.457G>T c.1654G>T (p.Ala552Ser) c.1606G>T (p.Ala536Ser) c.1531G>T (p.Ala511Ser) c.1474G>T (p.Ala492Ser) | |
| 3 | g.30691475C>A | CA351809602 | TGFBR2 | c.1580C>A (p.Ala527Asp) n.464C>A n.3176C>A n.458C>A c.1655C>A (p.Ala552Asp) c.1607C>A (p.Ala536Asp) c.1532C>A (p.Ala511Asp) c.1475C>A (p.Ala492Asp) | |
| 3 | g.30691475C= | CA1354881684 | TGFBR2 | c.1580C= (p.Ala527=) n.464C= n.3176C= n.458C= c.1655C= (p.Ala552=) c.1607C= (p.Ala536=) c.1532C= (p.Ala511=) c.1475C= (p.Ala492=) | |
| 3 | g.30691475C>G | CA351809601 | TGFBR2 | c.1580C>G (p.Ala527Gly) n.464C>G n.3176C>G n.458C>G c.1655C>G (p.Ala552Gly) c.1607C>G (p.Ala536Gly) c.1532C>G (p.Ala511Gly) c.1475C>G (p.Ala492Gly) | dbSNP |
| 3 | g.30691475C>T | CA020724 | TGFBR2 | c.1580C>T (p.Ala527Val) n.464C>T n.3176C>T n.458C>T c.1655C>T (p.Ala552Val) c.1607C>T (p.Ala536Val) c.1532C>T (p.Ala511Val) c.1475C>T (p.Ala492Val) | ClinVar dbSNP |
| 3 | g.30691476C>A | CA432917983 | TGFBR2 | c.1581C>A (p.Ala527=) n.465C>A n.3177C>A n.459C>A c.1656C>A (p.Ala552=) c.1608C>A (p.Ala536=) c.1533C>A (p.Ala511=) c.1476C>A (p.Ala492=) | |
| 3 | g.30691476C>G | CA432917984 | TGFBR2 | c.1581C>G (p.Ala527=) n.465C>G n.3177C>G n.459C>G c.1656C>G (p.Ala552=) c.1608C>G (p.Ala536=) c.1533C>G (p.Ala511=) c.1476C>G (p.Ala492=) | dbSNP |
| 3 | g.30691476C>T | CA432917985 | TGFBR2 | c.1581C>T (p.Ala527=) n.465C>T n.3177C>T n.459C>T c.1656C>T (p.Ala552=) c.1608C>T (p.Ala536=) c.1533C>T (p.Ala511=) c.1476C>T (p.Ala492=) | dbSNP gnomAD v4 |
| 3 | g.30691477C>A | CA351809603 | TGFBR2 | c.1582C>A (p.Arg528Ser) n.466C>A n.3178C>A n.460C>A c.1657C>A (p.Arg553Ser) c.1609C>A (p.Arg537Ser) c.1534C>A (p.Arg512Ser) c.1477C>A (p.Arg493Ser) | ClinVar dbSNP |
| 3 | g.30691477C= | CA1354881685 | TGFBR2 | c.1582C= (p.Arg528=) n.466C= n.3178C= n.460C= c.1657C= (p.Arg553=) c.1609C= (p.Arg537=) c.1534C= (p.Arg512=) c.1477C= (p.Arg493=) | |
| 3 | g.30691477C>G | CA351809604 | TGFBR2 | c.1582C>G (p.Arg528Gly) n.466C>G n.3178C>G n.460C>G c.1657C>G (p.Arg553Gly) c.1609C>G (p.Arg537Gly) c.1534C>G (p.Arg512Gly) c.1477C>G (p.Arg493Gly) | ClinVar dbSNP |
| 3 | g.30691477C>T | CA020726 | TGFBR2 | c.1582C>T (p.Arg528Cys) n.466C>T n.3178C>T n.460C>T c.1657C>T (p.Arg553Cys) c.1609C>T (p.Arg537Cys) c.1534C>T (p.Arg512Cys) c.1477C>T (p.Arg493Cys) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30691478G>A | CA020730 | TGFBR2 | c.1583G>A (p.Arg528His) n.467G>A n.3179G>A n.461G>A c.1658G>A (p.Arg553His) c.1610G>A (p.Arg537His) c.1535G>A (p.Arg512His) c.1478G>A (p.Arg493His) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30691478G>C | CA351809605 | TGFBR2 | c.1583G>C (p.Arg528Pro) n.467G>C n.3179G>C n.461G>C c.1658G>C (p.Arg553Pro) c.1610G>C (p.Arg537Pro) c.1535G>C (p.Arg512Pro) c.1478G>C (p.Arg493Pro) | dbSNP |
| 3 | g.30691478G= | CA1354881686 | TGFBR2 | c.1583G= (p.Arg528=) n.467G= n.3179G= n.461G= c.1658G= (p.Arg553=) c.1610G= (p.Arg537=) c.1535G= (p.Arg512=) c.1478G= (p.Arg493=) | |
| 3 | g.30691478G>T | CA351809606 | TGFBR2 | c.1583G>T (p.Arg528Leu) n.467G>T n.3179G>T n.461G>T c.1658G>T (p.Arg553Leu) c.1610G>T (p.Arg537Leu) c.1535G>T (p.Arg512Leu) c.1478G>T (p.Arg493Leu) | COSMIC COSMIC |
| 3 | g.30691479T>A | CA432917986 | TGFBR2 | c.1584T>A (p.Arg528=) n.468T>A n.3180T>A n.462T>A c.1659T>A (p.Arg553=) c.1611T>A (p.Arg537=) c.1536T>A (p.Arg512=) c.1479T>A (p.Arg493=) | dbSNP |
| 3 | g.30691479T>C | CA432917987 | TGFBR2 | c.1584T>C (p.Arg528=) n.468T>C n.3180T>C n.462T>C c.1659T>C (p.Arg553=) c.1611T>C (p.Arg537=) c.1536T>C (p.Arg512=) c.1479T>C (p.Arg493=) | dbSNP |
| 3 | g.30691479T>G | CA047093 | TGFBR2 | c.1584T>G (p.Arg528=) n.468T>G n.3180T>G n.462T>G c.1659T>G (p.Arg553=) c.1611T>G (p.Arg537=) c.1536T>G (p.Arg512=) c.1479T>G (p.Arg493=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30691479T= | CA1354881687 | TGFBR2 | c.1584T= (p.Arg528=) n.468T= n.3180T= n.462T= c.1659T= (p.Arg553=) c.1611T= (p.Arg537=) c.1536T= (p.Arg512=) c.1479T= (p.Arg493=) | |
| 3 | g.30691480C>A | CA71547216 | TGFBR2 | c.1585C>A (p.Leu529Ile) n.469C>A n.3181C>A n.463C>A c.1660C>A (p.Leu554Ile) c.1612C>A (p.Leu538Ile) c.1537C>A (p.Leu513Ile) c.1480C>A (p.Leu494Ile) | dbSNP |
| 3 | g.30691480C= | CA1354881688 | TGFBR2 | c.1585C= (p.Leu529=) n.469C= n.3181C= n.463C= c.1660C= (p.Leu554=) c.1612C= (p.Leu538=) c.1537C= (p.Leu513=) c.1480C= (p.Leu494=) | |
| 3 | g.30691480C>G | CA351809607 | TGFBR2 | c.1585C>G (p.Leu529Val) n.469C>G n.3181C>G n.463C>G c.1660C>G (p.Leu554Val) c.1612C>G (p.Leu538Val) c.1537C>G (p.Leu513Val) c.1480C>G (p.Leu494Val) | |
| 3 | g.30691480C>T | CA351809608 | TGFBR2 | c.1585C>T (p.Leu529Phe) n.469C>T n.3181C>T n.463C>T c.1660C>T (p.Leu554Phe) c.1612C>T (p.Leu538Phe) c.1537C>T (p.Leu513Phe) c.1480C>T (p.Leu494Phe) | dbSNP COSMIC COSMIC |
| 3 | g.30691481T>A | CA351809609 | TGFBR2 | c.1586T>A (p.Leu529His) n.470T>A n.3182T>A n.464T>A c.1661T>A (p.Leu554His) c.1613T>A (p.Leu538His) c.1538T>A (p.Leu513His) c.1481T>A (p.Leu494His) | dbSNP |
| 3 | g.30691481T>C | CA351809610 | TGFBR2 | c.1586T>C (p.Leu529Pro) n.470T>C n.3182T>C n.464T>C c.1661T>C (p.Leu554Pro) c.1613T>C (p.Leu538Pro) c.1538T>C (p.Leu513Pro) c.1481T>C (p.Leu494Pro) | dbSNP |
| 3 | g.30691481T>G | CA351809611 | TGFBR2 | c.1586T>G (p.Leu529Arg) n.470T>G n.3182T>G n.464T>G c.1661T>G (p.Leu554Arg) c.1613T>G (p.Leu538Arg) c.1538T>G (p.Leu513Arg) c.1481T>G (p.Leu494Arg) | |
| 3 | g.30691482C>A | CA432917988 | TGFBR2 | c.1587C>A (p.Leu529=) n.471C>A n.3183C>A n.465C>A c.1662C>A (p.Leu554=) c.1614C>A (p.Leu538=) c.1539C>A (p.Leu513=) c.1482C>A (p.Leu494=) | |
| 3 | g.30691482C= | CA1354881689 | TGFBR2 | c.1587C= (p.Leu529=) n.471C= n.3183C= n.465C= c.1662C= (p.Leu554=) c.1614C= (p.Leu538=) c.1539C= (p.Leu513=) c.1482C= (p.Leu494=) | |
| 3 | g.30691482C>G | CA432917989 | TGFBR2 | c.1587C>G (p.Leu529=) n.471C>G n.3183C>G n.465C>G c.1662C>G (p.Leu554=) c.1614C>G (p.Leu538=) c.1539C>G (p.Leu513=) c.1482C>G (p.Leu494=) | |
| 3 | g.30691482C>T | CA047104 | TGFBR2 | c.1587C>T (p.Leu529=) n.471C>T n.3183C>T n.465C>T c.1662C>T (p.Leu554=) c.1614C>T (p.Leu538=) c.1539C>T (p.Leu513=) c.1482C>T (p.Leu494=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30691484_30691485del | CA645535115 | TGFBR2 | c.1589_1590del (p.Thr530SerfsTer10) n.473_474del n.3185_3186del n.467_468del c.1664_1665del (p.Thr555SerfsTer10) c.1616_1617del (p.Thr539SerfsTer10) c.1541_1542del (p.Thr514SerfsTer10) c.1484_1485del (p.Thr495SerfsTer10) | COSMIC COSMIC |
| 3 | g.30691483A>C | CA351809613 | TGFBR2 | c.1588A>C (p.Thr530Pro) n.472A>C n.3184A>C n.466A>C c.1663A>C (p.Thr555Pro) c.1615A>C (p.Thr539Pro) c.1540A>C (p.Thr514Pro) c.1483A>C (p.Thr495Pro) | |
| 3 | g.30691483A>G | CA351809614 | TGFBR2 | c.1588A>G (p.Thr530Ala) n.472A>G n.3184A>G n.466A>G c.1663A>G (p.Thr555Ala) c.1615A>G (p.Thr539Ala) c.1540A>G (p.Thr514Ala) c.1483A>G (p.Thr495Ala) | |
| 3 | g.30691483A>T | CA351809612 | TGFBR2 | c.1588A>T (p.Thr530Ser) n.472A>T n.3184A>T n.466A>T c.1663A>T (p.Thr555Ser) c.1615A>T (p.Thr539Ser) c.1540A>T (p.Thr514Ser) c.1483A>T (p.Thr495Ser) | dbSNP |
| 3 | g.30691484C>A | CA351809615 | TGFBR2 | c.1589C>A (p.Thr530Lys) n.473C>A n.3185C>A n.467C>A c.1664C>A (p.Thr555Lys) c.1616C>A (p.Thr539Lys) c.1541C>A (p.Thr514Lys) c.1484C>A (p.Thr495Lys) | |
| 3 | g.30691484C= | CA1354881690 | TGFBR2 | c.1589C= (p.Thr530=) n.473C= n.3185C= n.467C= c.1664C= (p.Thr555=) c.1616C= (p.Thr539=) c.1541C= (p.Thr514=) c.1484C= (p.Thr495=) | |
| 3 | g.30691484C>G | CA351809616 | TGFBR2 | c.1589C>G (p.Thr530Arg) n.473C>G n.3185C>G n.467C>G c.1664C>G (p.Thr555Arg) c.1616C>G (p.Thr539Arg) c.1541C>G (p.Thr514Arg) c.1484C>G (p.Thr495Arg) | ClinVar dbSNP |
| 3 | g.30691484C>T | CA351809617 | TGFBR2 | c.1589C>T (p.Thr530Ile) n.473C>T n.3185C>T n.467C>T c.1664C>T (p.Thr555Ile) c.1616C>T (p.Thr539Ile) c.1541C>T (p.Thr514Ile) c.1484C>T (p.Thr495Ile) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30691485A>C | CA432917990 | TGFBR2 | c.1590A>C (p.Thr530=) n.474A>C n.3186A>C n.468A>C c.1665A>C (p.Thr555=) c.1617A>C (p.Thr539=) c.1542A>C (p.Thr514=) c.1485A>C (p.Thr495=) | |
| 3 | g.30691485A>G | CA432917991 | TGFBR2 | c.1590A>G (p.Thr530=) n.474A>G n.3186A>G n.468A>G c.1665A>G (p.Thr555=) c.1617A>G (p.Thr539=) c.1542A>G (p.Thr514=) c.1485A>G (p.Thr495=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30691485A>T | CA432917992 | TGFBR2 | c.1590A>T (p.Thr530=) n.474A>T n.3186A>T n.468A>T c.1665A>T (p.Thr555=) c.1617A>T (p.Thr539=) c.1542A>T (p.Thr514=) c.1485A>T (p.Thr495=) | dbSNP |
| 3 | g.30691486G>A | CA020734 | TGFBR2 | c.1591G>A (p.Ala531Thr) n.475G>A n.3187G>A n.469G>A c.1666G>A (p.Ala556Thr) c.1618G>A (p.Ala540Thr) c.1543G>A (p.Ala515Thr) c.1486G>A (p.Ala496Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30691486G>C | CA351809618 | TGFBR2 | c.1591G>C (p.Ala531Pro) n.475G>C n.3187G>C n.469G>C c.1666G>C (p.Ala556Pro) c.1618G>C (p.Ala540Pro) c.1543G>C (p.Ala515Pro) c.1486G>C (p.Ala496Pro) | dbSNP |
| 3 | g.30691486G= | CA1354881691 | TGFBR2 | c.1591G= (p.Ala531=) n.475G= n.3187G= n.469G= c.1666G= (p.Ala556=) c.1618G= (p.Ala540=) c.1543G= (p.Ala515=) c.1486G= (p.Ala496=) | |
| 3 | g.30691486G>T | CA351809619 | TGFBR2 | c.1591G>T (p.Ala531Ser) n.475G>T n.3187G>T n.469G>T c.1666G>T (p.Ala556Ser) c.1618G>T (p.Ala540Ser) c.1543G>T (p.Ala515Ser) c.1486G>T (p.Ala496Ser) | |
| 3 | g.30691487C>A | CA351809620 | TGFBR2 | c.1592C>A (p.Ala531Asp) n.476C>A n.3188C>A n.470C>A c.1667C>A (p.Ala556Asp) c.1619C>A (p.Ala540Asp) c.1544C>A (p.Ala515Asp) c.1487C>A (p.Ala496Asp) | ClinVar dbSNP |
| 3 | g.30691487C>G | CA351809621 | TGFBR2 | c.1592C>G (p.Ala531Gly) n.476C>G n.3188C>G n.470C>G c.1667C>G (p.Ala556Gly) c.1619C>G (p.Ala540Gly) c.1544C>G (p.Ala515Gly) c.1487C>G (p.Ala496Gly) | dbSNP |
| 3 | g.30691487C>T | CA351809622 | TGFBR2 | c.1592C>T (p.Ala531Val) n.476C>T n.3188C>T n.470C>T c.1667C>T (p.Ala556Val) c.1619C>T (p.Ala540Val) c.1544C>T (p.Ala515Val) c.1487C>T (p.Ala496Val) | ClinVar dbSNP |
| 3 | g.30691488C>A | CA047117 | TGFBR2 | c.1593C>A (p.Ala531=) n.477C>A n.3189C>A n.471C>A c.1668C>A (p.Ala556=) c.1620C>A (p.Ala540=) c.1545C>A (p.Ala515=) c.1488C>A (p.Ala496=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.30691488C= | CA1354881692 | TGFBR2 | c.1593C= (p.Ala531=) n.477C= n.3189C= n.471C= c.1668C= (p.Ala556=) c.1620C= (p.Ala540=) c.1545C= (p.Ala515=) c.1488C= (p.Ala496=) | |
| 3 | g.30691488C>G | CA432917993 | TGFBR2 | c.1593C>G (p.Ala531=) n.477C>G n.3189C>G n.471C>G c.1668C>G (p.Ala556=) c.1620C>G (p.Ala540=) c.1545C>G (p.Ala515=) c.1488C>G (p.Ala496=) | dbSNP gnomAD v4 |
| 3 | g.30691488C>T | CA432917994 | TGFBR2 | c.1593C>T (p.Ala531=) n.477C>T n.3189C>T n.471C>T c.1668C>T (p.Ala556=) c.1620C>T (p.Ala540=) c.1545C>T (p.Ala515=) c.1488C>T (p.Ala496=) | ClinVar dbSNP |
| 3 | g.30691489C>A | CA351809623 | TGFBR2 | c.1594C>A (p.Gln532Lys) n.478C>A n.3190C>A n.472C>A c.1669C>A (p.Gln557Lys) c.1621C>A (p.Gln541Lys) c.1546C>A (p.Gln516Lys) c.1489C>A (p.Gln497Lys) | dbSNP COSMIC COSMIC |
| 3 | g.30691489C>G | CA351809624 | TGFBR2 | c.1594C>G (p.Gln532Glu) n.478C>G n.3190C>G n.472C>G c.1669C>G (p.Gln557Glu) c.1621C>G (p.Gln541Glu) c.1546C>G (p.Gln516Glu) c.1489C>G (p.Gln497Glu) | |
| 3 | g.30691489C>T | CA351809625 | TGFBR2 | c.1594C>T (p.Gln532Ter) n.478C>T n.3190C>T n.472C>T c.1669C>T (p.Gln557Ter) c.1621C>T (p.Gln541Ter) c.1546C>T (p.Gln516Ter) c.1489C>T (p.Gln497Ter) | ClinVar |
| 3 | g.30691490A= | CA1354881693 | TGFBR2 | c.1595A= (p.Gln532=) n.479A= n.3191A= n.473A= c.1670A= (p.Gln557=) c.1622A= (p.Gln541=) c.1547A= (p.Gln516=) c.1490A= (p.Gln497=) | |
| 3 | g.30691490A>C | CA351809628 | TGFBR2 | c.1595A>C (p.Gln532Pro) n.479A>C n.3191A>C n.473A>C c.1670A>C (p.Gln557Pro) c.1622A>C (p.Gln541Pro) c.1547A>C (p.Gln516Pro) c.1490A>C (p.Gln497Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30691490A>G | CA351809626 | TGFBR2 | c.1595A>G (p.Gln532Arg) n.479A>G n.3191A>G n.473A>G c.1670A>G (p.Gln557Arg) c.1622A>G (p.Gln541Arg) c.1547A>G (p.Gln516Arg) c.1490A>G (p.Gln497Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30691490A>T | CA351809627 | TGFBR2 | c.1595A>T (p.Gln532Leu) n.479A>T n.3191A>T n.473A>T c.1670A>T (p.Gln557Leu) c.1622A>T (p.Gln541Leu) c.1547A>T (p.Gln516Leu) c.1490A>T (p.Gln497Leu) | |
| 3 | g.30691491G>A | CA047131 | TGFBR2 | c.1596G>A (p.Gln532=) n.480G>A n.3192G>A n.474G>A c.1671G>A (p.Gln557=) c.1623G>A (p.Gln541=) c.1548G>A (p.Gln516=) c.1491G>A (p.Gln497=) | dbSNP ExAC gnomAD v4 |
| 3 | g.30691491G>C | CA351809629 | TGFBR2 | c.1596G>C (p.Gln532His) n.480G>C n.3192G>C n.474G>C c.1671G>C (p.Gln557His) c.1623G>C (p.Gln541His) c.1548G>C (p.Gln516His) c.1491G>C (p.Gln497His) | dbSNP |
| 3 | g.30691491G= | CA1354881694 | TGFBR2 | c.1596G= (p.Gln532=) n.480G= n.3192G= n.474G= c.1671G= (p.Gln557=) c.1623G= (p.Gln541=) c.1548G= (p.Gln516=) c.1491G= (p.Gln497=) | |
| 3 | g.30691491G>T | CA351809630 | TGFBR2 | c.1596G>T (p.Gln532His) n.480G>T n.3192G>T n.474G>T c.1671G>T (p.Gln557His) c.1623G>T (p.Gln541His) c.1548G>T (p.Gln516His) c.1491G>T (p.Gln497His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30691496_30691497dup | CA122444 | TGFBR2 | c.1601_1602dup (p.Ala535TrpfsTer30) n.485_486dup n.3197_3198dup n.479_480dup c.1676_1677dup (p.Ala560TrpfsTer30) c.1628_1629dup (p.Ala544TrpfsTer30) c.1553_1554dup (p.Ala519TrpfsTer30) c.1496_1497dup (p.Ala500TrpfsTer30) | ClinVar dbSNP |
| 3 | g.30691492T>A | CA351809631 | TGFBR2 | c.1597T>A (p.Cys533Ser) n.481T>A n.3193T>A n.475T>A c.1672T>A (p.Cys558Ser) c.1624T>A (p.Cys542Ser) c.1549T>A (p.Cys517Ser) c.1492T>A (p.Cys498Ser) | dbSNP |
| 3 | g.30691492T>C | CA351809632 | TGFBR2 | c.1597T>C (p.Cys533Arg) n.481T>C n.3193T>C n.475T>C c.1672T>C (p.Cys558Arg) c.1624T>C (p.Cys542Arg) c.1549T>C (p.Cys517Arg) c.1492T>C (p.Cys498Arg) | ClinVar |
| 3 | g.30691492T>G | CA351809633 | TGFBR2 | c.1597T>G (p.Cys533Gly) n.481T>G n.3193T>G n.475T>G c.1672T>G (p.Cys558Gly) c.1624T>G (p.Cys542Gly) c.1549T>G (p.Cys517Gly) c.1492T>G (p.Cys498Gly) | |
| 3 | g.30691493G>A | CA351809634 | TGFBR2 | c.1598G>A (p.Cys533Tyr) n.482G>A n.3194G>A n.476G>A c.1673G>A (p.Cys558Tyr) c.1625G>A (p.Cys542Tyr) c.1550G>A (p.Cys517Tyr) c.1493G>A (p.Cys498Tyr) | ClinVar |
| 3 | g.30691493G>C | CA351809635 | TGFBR2 | c.1598G>C (p.Cys533Ser) n.482G>C n.3194G>C n.476G>C c.1673G>C (p.Cys558Ser) c.1625G>C (p.Cys542Ser) c.1550G>C (p.Cys517Ser) c.1493G>C (p.Cys498Ser) | dbSNP |
| 3 | g.30691493G>T | CA351809636 | TGFBR2 | c.1598G>T (p.Cys533Phe) n.482G>T n.3194G>T n.476G>T c.1673G>T (p.Cys558Phe) c.1625G>T (p.Cys542Phe) c.1550G>T (p.Cys517Phe) c.1493G>T (p.Cys498Phe) | |
| 3 | g.30691494T>A | CA351809637 | TGFBR2 | c.1599T>A (p.Cys533Ter) n.483T>A n.3195T>A n.477T>A c.1674T>A (p.Cys558Ter) c.1626T>A (p.Cys542Ter) c.1551T>A (p.Cys517Ter) c.1494T>A (p.Cys498Ter) | ClinVar |
| 3 | g.30691494T>C | CA432917995 | TGFBR2 | c.1599T>C (p.Cys533=) n.483T>C n.3195T>C n.477T>C c.1674T>C (p.Cys558=) c.1626T>C (p.Cys542=) c.1551T>C (p.Cys517=) c.1494T>C (p.Cys498=) | COSMIC COSMIC |
| 3 | g.30691494T>G | CA351809638 | TGFBR2 | c.1599T>G (p.Cys533Trp) n.483T>G n.3195T>G n.477T>G c.1674T>G (p.Cys558Trp) c.1626T>G (p.Cys542Trp) c.1551T>G (p.Cys517Trp) c.1494T>G (p.Cys498Trp) | dbSNP |
| 3 | g.30691495G>A | CA351809641 | TGFBR2 | c.1600G>A (p.Val534Met) n.484G>A n.3196G>A n.478G>A c.1675G>A (p.Val559Met) c.1627G>A (p.Val543Met) c.1552G>A (p.Val518Met) c.1495G>A (p.Val499Met) | dbSNP gnomAD v2 |
| 3 | g.30691495G>C | CA351809640 | TGFBR2 | c.1600G>C (p.Val534Leu) n.484G>C n.3196G>C n.478G>C c.1675G>C (p.Val559Leu) c.1627G>C (p.Val543Leu) c.1552G>C (p.Val518Leu) c.1495G>C (p.Val499Leu) | |
| 3 | g.30691495G= | CA1354881695 | TGFBR2 | c.1600G= (p.Val534=) n.484G= n.3196G= n.478G= c.1675G= (p.Val559=) c.1627G= (p.Val543=) c.1552G= (p.Val518=) c.1495G= (p.Val499=) | |
| 3 | g.30691495G>T | CA351809639 | TGFBR2 | c.1600G>T (p.Val534Leu) n.484G>T n.3196G>T n.478G>T c.1675G>T (p.Val559Leu) c.1627G>T (p.Val543Leu) c.1552G>T (p.Val518Leu) c.1495G>T (p.Val499Leu) | |
| 3 | g.30691496T>A | CA351809642 | TGFBR2 | c.1601T>A (p.Val534Glu) n.485T>A n.3197T>A n.479T>A c.1676T>A (p.Val559Glu) c.1628T>A (p.Val543Glu) c.1553T>A (p.Val518Glu) c.1496T>A (p.Val499Glu) | |
| 3 | g.30691496T>C | CA351809643 | TGFBR2 | c.1601T>C (p.Val534Ala) n.485T>C n.3197T>C n.479T>C c.1676T>C (p.Val559Ala) c.1628T>C (p.Val543Ala) c.1553T>C (p.Val518Ala) c.1496T>C (p.Val499Ala) | |
| 3 | g.30691496T>G | CA351809644 | TGFBR2 | c.1601T>G (p.Val534Gly) n.485T>G n.3197T>G n.479T>G c.1676T>G (p.Val559Gly) c.1628T>G (p.Val543Gly) c.1553T>G (p.Val518Gly) c.1496T>G (p.Val499Gly) | |
| 3 | g.30691496_30691497delinsTG | CA1354881696 | TGFBR2 | c.1601_1602delinsTG (p.Val534=) n.485_486delinsTG n.3197_3198delinsTG n.479_480delinsTG c.1676_1677delinsTG (p.Val559=) c.1628_1629delinsTG (p.Val543=) c.1553_1554delinsTG (p.Val518=) c.1496_1497delinsTG (p.Val499=) | |
| 3 | g.30691497G>A | CA020738 | TGFBR2 | c.1602G>A (p.Val534=) n.486G>A n.3198G>A n.480G>A c.1677G>A (p.Val559=) c.1629G>A (p.Val543=) c.1554G>A (p.Val518=) c.1497G>A (p.Val499=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30691497G>C | CA432917996 | TGFBR2 | c.1602G>C (p.Val534=) n.486G>C n.3198G>C n.480G>C c.1677G>C (p.Val559=) c.1629G>C (p.Val543=) c.1554G>C (p.Val518=) c.1497G>C (p.Val499=) | |
| 3 | g.30691497G= | CA1354881697 | TGFBR2 | c.1602G= (p.Val534=) n.486G= n.3198G= n.480G= c.1677G= (p.Val559=) c.1629G= (p.Val543=) c.1554G= (p.Val518=) c.1497G= (p.Val499=) | |
| 3 | g.30691497G>T | CA432917997 | TGFBR2 | c.1602G>T (p.Val534=) n.486G>T n.3198G>T n.480G>T c.1677G>T (p.Val559=) c.1629G>T (p.Val543=) c.1554G>T (p.Val518=) c.1497G>T (p.Val499=) | |
| 3 | g.30691498del | CA916082293 | TGFBR2 | c.1603del (p.Ala535GlnfsTer29) n.487del n.3199del n.481del c.1678del (p.Ala560GlnfsTer29) c.1630del (p.Ala544GlnfsTer29) c.1555del (p.Ala519GlnfsTer29) c.1498del (p.Ala500GlnfsTer29) | ClinVar dbSNP |
| 3 | g.30691498G>A | CA351809645 | TGFBR2 | c.1603G>A (p.Ala535Thr) n.487G>A n.3199G>A n.481G>A c.1678G>A (p.Ala560Thr) c.1630G>A (p.Ala544Thr) c.1555G>A (p.Ala519Thr) c.1498G>A (p.Ala500Thr) | dbSNP |
| 3 | g.30691498G>C | CA351809646 | TGFBR2 | c.1603G>C (p.Ala535Pro) n.487G>C n.3199G>C n.481G>C c.1678G>C (p.Ala560Pro) c.1630G>C (p.Ala544Pro) c.1555G>C (p.Ala519Pro) c.1498G>C (p.Ala500Pro) | dbSNP |
| 3 | g.30691498G= | CA1354881698 | TGFBR2 | c.1603G= (p.Ala535=) n.487G= n.3199G= n.481G= c.1678G= (p.Ala560=) c.1630G= (p.Ala544=) c.1555G= (p.Ala519=) c.1498G= (p.Ala500=) | |
| 3 | g.30691498G>T | CA351809647 | TGFBR2 | c.1603G>T (p.Ala535Ser) n.487G>T n.3199G>T n.481G>T c.1678G>T (p.Ala560Ser) c.1630G>T (p.Ala544Ser) c.1555G>T (p.Ala519Ser) c.1498G>T (p.Ala500Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30691499C>A | CA351809648 | TGFBR2 | c.1604C>A (p.Ala535Glu) n.488C>A n.3200C>A n.482C>A c.1679C>A (p.Ala560Glu) c.1631C>A (p.Ala544Glu) c.1556C>A (p.Ala519Glu) c.1499C>A (p.Ala500Glu) | |
| 3 | g.30691499C>G | CA351809649 | TGFBR2 | c.1604C>G (p.Ala535Gly) n.488C>G n.3200C>G n.482C>G c.1679C>G (p.Ala560Gly) c.1631C>G (p.Ala544Gly) c.1556C>G (p.Ala519Gly) c.1499C>G (p.Ala500Gly) | dbSNP |
| 3 | g.30691499C>T | CA351809650 | TGFBR2 | c.1604C>T (p.Ala535Val) n.488C>T n.3200C>T n.482C>T c.1679C>T (p.Ala560Val) c.1631C>T (p.Ala544Val) c.1556C>T (p.Ala519Val) c.1499C>T (p.Ala500Val) | dbSNP |
| 3 | g.30691500A>C | CA432917998 | TGFBR2 | c.1605A>C (p.Ala535=) n.489A>C n.3201A>C n.483A>C c.1680A>C (p.Ala560=) c.1632A>C (p.Ala544=) c.1557A>C (p.Ala519=) c.1500A>C (p.Ala500=) | |
| 3 | g.30691500A>G | CA432917999 | TGFBR2 | c.1605A>G (p.Ala535=) n.489A>G n.3201A>G n.483A>G c.1680A>G (p.Ala560=) c.1632A>G (p.Ala544=) c.1557A>G (p.Ala519=) c.1500A>G (p.Ala500=) | gnomAD v4 |
| 3 | g.30691500A>T | CA432918000 | TGFBR2 | c.1605A>T (p.Ala535=) n.489A>T n.3201A>T n.483A>T c.1680A>T (p.Ala560=) c.1632A>T (p.Ala544=) c.1557A>T (p.Ala519=) c.1500A>T (p.Ala500=) | |
| 3 | g.30691501G>A | CA351809651 | TGFBR2 | c.1606G>A (p.Glu536Lys) n.490G>A n.3202G>A n.484G>A c.1681G>A (p.Glu561Lys) c.1633G>A (p.Glu545Lys) c.1558G>A (p.Glu520Lys) c.1501G>A (p.Glu501Lys) | dbSNP |
| 3 | g.30691501G>C | CA351809652 | TGFBR2 | c.1606G>C (p.Glu536Gln) n.490G>C n.3202G>C n.484G>C c.1681G>C (p.Glu561Gln) c.1633G>C (p.Glu545Gln) c.1558G>C (p.Glu520Gln) c.1501G>C (p.Glu501Gln) | dbSNP |
| 3 | g.30691501G>T | CA351809653 | TGFBR2 | c.1606G>T (p.Glu536Ter) n.490G>T n.3202G>T n.484G>T c.1681G>T (p.Glu561Ter) c.1633G>T (p.Glu545Ter) c.1558G>T (p.Glu520Ter) c.1501G>T (p.Glu501Ter) | |
| 3 | g.30691502A>C | CA351809654 | TGFBR2 | c.1607A>C (p.Glu536Ala) n.491A>C n.3203A>C n.485A>C c.1682A>C (p.Glu561Ala) c.1634A>C (p.Glu545Ala) c.1559A>C (p.Glu520Ala) c.1502A>C (p.Glu501Ala) | dbSNP |
| 3 | g.30691502A>G | CA351809655 | TGFBR2 | c.1607A>G (p.Glu536Gly) n.491A>G n.3203A>G n.485A>G c.1682A>G (p.Glu561Gly) c.1634A>G (p.Glu545Gly) c.1559A>G (p.Glu520Gly) c.1502A>G (p.Glu501Gly) | dbSNP |
| 3 | g.30691502A>T | CA351809656 | TGFBR2 | c.1607A>T (p.Glu536Val) n.491A>T n.3203A>T n.485A>T c.1682A>T (p.Glu561Val) c.1634A>T (p.Glu545Val) c.1559A>T (p.Glu520Val) c.1502A>T (p.Glu501Val) | dbSNP |
| 3 | g.30691503A>C | CA351809658 | TGFBR2 | c.1608A>C (p.Glu536Asp) n.492A>C n.3204A>C n.486A>C c.1683A>C (p.Glu561Asp) c.1635A>C (p.Glu545Asp) c.1560A>C (p.Glu520Asp) c.1503A>C (p.Glu501Asp) | dbSNP |
| 3 | g.30691503A>G | CA432918001 | TGFBR2 | c.1608A>G (p.Glu536=) n.492A>G n.3204A>G n.486A>G c.1683A>G (p.Glu561=) c.1635A>G (p.Glu545=) c.1560A>G (p.Glu520=) c.1503A>G (p.Glu501=) | |
| 3 | g.30691503A>T | CA351809657 | TGFBR2 | c.1608A>T (p.Glu536Asp) n.492A>T n.3204A>T n.486A>T c.1683A>T (p.Glu561Asp) c.1635A>T (p.Glu545Asp) c.1560A>T (p.Glu520Asp) c.1503A>T (p.Glu501Asp) | dbSNP |
| 3 | g.30691504C>A | CA351809659 | TGFBR2 | c.1609C>A (p.Arg537Ser) n.493C>A n.3205C>A n.487C>A c.1684C>A (p.Arg562Ser) c.1636C>A (p.Arg546Ser) c.1561C>A (p.Arg521Ser) c.1504C>A (p.Arg502Ser) | dbSNP |
| 3 | g.30691504C= | CA1354881699 | TGFBR2 | c.1609C= (p.Arg537=) n.493C= n.3205C= n.487C= c.1684C= (p.Arg562=) c.1636C= (p.Arg546=) c.1561C= (p.Arg521=) c.1504C= (p.Arg502=) | |
| 3 | g.30691504C>G | CA351809660 | TGFBR2 | c.1609C>G (p.Arg537Gly) n.493C>G n.3205C>G n.487C>G c.1684C>G (p.Arg562Gly) c.1636C>G (p.Arg546Gly) c.1561C>G (p.Arg521Gly) c.1504C>G (p.Arg502Gly) | dbSNP |
| 3 | g.30691504C>T | CA020742 | TGFBR2 | c.1609C>T (p.Arg537Cys) n.493C>T n.3205C>T n.487C>T c.1684C>T (p.Arg562Cys) c.1636C>T (p.Arg546Cys) c.1561C>T (p.Arg521Cys) c.1504C>T (p.Arg502Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30691505G>A | CA16604407 | TGFBR2 | c.1610G>A (p.Arg537His) n.494G>A n.3206G>A n.488G>A c.1685G>A (p.Arg562His) c.1637G>A (p.Arg546His) c.1562G>A (p.Arg521His) c.1505G>A (p.Arg502His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.30691505G>C | CA351809661 | TGFBR2 | c.1610G>C (p.Arg537Pro) n.494G>C n.3206G>C n.488G>C c.1685G>C (p.Arg562Pro) c.1637G>C (p.Arg546Pro) c.1562G>C (p.Arg521Pro) c.1505G>C (p.Arg502Pro) | ClinVar dbSNP |
| 3 | g.30691505G= | CA1354881700 | TGFBR2 | c.1610G= (p.Arg537=) n.494G= n.3206G= n.488G= c.1685G= (p.Arg562=) c.1637G= (p.Arg546=) c.1562G= (p.Arg521=) c.1505G= (p.Arg502=) | |
| 3 | g.30691505G>T | CA351809662 | TGFBR2 | c.1610G>T (p.Arg537Leu) n.494G>T n.3206G>T n.488G>T c.1685G>T (p.Arg562Leu) c.1637G>T (p.Arg546Leu) c.1562G>T (p.Arg521Leu) c.1505G>T (p.Arg502Leu) | |
| 3 | g.30691506C>A | CA432918002 | TGFBR2 | c.1611C>A (p.Arg537=) n.495C>A n.3207C>A n.489C>A c.1686C>A (p.Arg562=) c.1638C>A (p.Arg546=) c.1563C>A (p.Arg521=) c.1506C>A (p.Arg502=) | |
| 3 | g.30691506C>G | CA432918003 | TGFBR2 | c.1611C>G (p.Arg537=) n.495C>G n.3207C>G n.489C>G c.1686C>G (p.Arg562=) c.1638C>G (p.Arg546=) c.1563C>G (p.Arg521=) c.1506C>G (p.Arg502=) | dbSNP |
| 3 | g.30691506C>T | CA432918004 | TGFBR2 | c.1611C>T (p.Arg537=) n.495C>T n.3207C>T n.489C>T c.1686C>T (p.Arg562=) c.1638C>T (p.Arg546=) c.1563C>T (p.Arg521=) c.1506C>T (p.Arg502=) | dbSNP gnomAD v4 |
| 3 | g.30691507T>A | CA351809663 | TGFBR2 | c.1612T>A (p.Phe538Ile) n.496T>A n.3208T>A n.490T>A c.1687T>A (p.Phe563Ile) c.1639T>A (p.Phe547Ile) c.1564T>A (p.Phe522Ile) c.1507T>A (p.Phe503Ile) | dbSNP |
| 3 | g.30691507T>C | CA351809664 | TGFBR2 | c.1612T>C (p.Phe538Leu) n.496T>C n.3208T>C n.490T>C c.1687T>C (p.Phe563Leu) c.1639T>C (p.Phe547Leu) c.1564T>C (p.Phe522Leu) c.1507T>C (p.Phe503Leu) | |
| 3 | g.30691507T>G | CA351809665 | TGFBR2 | c.1612T>G (p.Phe538Val) n.496T>G n.3208T>G n.490T>G c.1687T>G (p.Phe563Val) c.1639T>G (p.Phe547Val) c.1564T>G (p.Phe522Val) c.1507T>G (p.Phe503Val) | dbSNP |
| 3 | g.30691508T>A | CA351809666 | TGFBR2 | c.1613T>A (p.Phe538Tyr) n.497T>A n.3209T>A n.491T>A c.1688T>A (p.Phe563Tyr) c.1640T>A (p.Phe547Tyr) c.1565T>A (p.Phe522Tyr) c.1508T>A (p.Phe503Tyr) | dbSNP |
| 3 | g.30691508T>C | CA351809667 | TGFBR2 | c.1613T>C (p.Phe538Ser) n.497T>C n.3209T>C n.491T>C c.1688T>C (p.Phe563Ser) c.1640T>C (p.Phe547Ser) c.1565T>C (p.Phe522Ser) c.1508T>C (p.Phe503Ser) | ClinVar |
| 3 | g.30691508T>G | CA351809668 | TGFBR2 | c.1613T>G (p.Phe538Cys) n.497T>G n.3209T>G n.491T>G c.1688T>G (p.Phe563Cys) c.1640T>G (p.Phe547Cys) c.1565T>G (p.Phe522Cys) c.1508T>G (p.Phe503Cys) | |
| 3 | g.30691508T= | CA1354881701 | TGFBR2 | c.1613T= (p.Phe538=) n.497T= n.3209T= n.491T= c.1688T= (p.Phe563=) c.1640T= (p.Phe547=) c.1565T= (p.Phe522=) c.1508T= (p.Phe503=) | |
| 3 | g.30691509C>A | CA351809669 | TGFBR2 | c.1614C>A (p.Phe538Leu) n.498C>A n.3210C>A n.492C>A c.1689C>A (p.Phe563Leu) c.1641C>A (p.Phe547Leu) c.1566C>A (p.Phe522Leu) c.1509C>A (p.Phe503Leu) | COSMIC COSMIC |
| 3 | g.30691509C>G | CA351809670 | TGFBR2 | c.1614C>G (p.Phe538Leu) n.498C>G n.3210C>G n.492C>G c.1689C>G (p.Phe563Leu) c.1641C>G (p.Phe547Leu) c.1566C>G (p.Phe522Leu) c.1509C>G (p.Phe503Leu) | dbSNP |
| 3 | g.30691509C>T | CA432918005 | TGFBR2 | c.1614C>T (p.Phe538=) n.498C>T n.3210C>T n.492C>T c.1689C>T (p.Phe563=) c.1641C>T (p.Phe547=) c.1566C>T (p.Phe522=) c.1509C>T (p.Phe503=) | dbSNP COSMIC COSMIC |
| 3 | g.30691510A>C | CA351809671 | TGFBR2 | c.1615A>C (p.Ser539Arg) n.499A>C n.3211A>C n.493A>C c.1690A>C (p.Ser564Arg) c.1642A>C (p.Ser548Arg) c.1567A>C (p.Ser523Arg) c.1510A>C (p.Ser504Arg) | |
| 3 | g.30691510A>G | CA351809672 | TGFBR2 | c.1615A>G (p.Ser539Gly) n.499A>G n.3211A>G n.493A>G c.1690A>G (p.Ser564Gly) c.1642A>G (p.Ser548Gly) c.1567A>G (p.Ser523Gly) c.1510A>G (p.Ser504Gly) | dbSNP |
| 3 | g.30691510A>T | CA351809673 | TGFBR2 | c.1615A>T (p.Ser539Cys) n.499A>T n.3211A>T n.493A>T c.1690A>T (p.Ser564Cys) c.1642A>T (p.Ser548Cys) c.1567A>T (p.Ser523Cys) c.1510A>T (p.Ser504Cys) | dbSNP |
| 3 | g.30691511G>A | CA351809674 | TGFBR2 | c.1616G>A (p.Ser539Asn) n.500G>A n.3212G>A n.494G>A c.1691G>A (p.Ser564Asn) c.1643G>A (p.Ser548Asn) c.1568G>A (p.Ser523Asn) c.1511G>A (p.Ser504Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30691511G>C | CA351809675 | TGFBR2 | c.1616G>C (p.Ser539Thr) n.500G>C n.3212G>C n.494G>C c.1691G>C (p.Ser564Thr) c.1643G>C (p.Ser548Thr) c.1568G>C (p.Ser523Thr) c.1511G>C (p.Ser504Thr) | |
| 3 | g.30691511G= | CA1354881702 | TGFBR2 | c.1616G= (p.Ser539=) n.500G= n.3212G= n.494G= c.1691G= (p.Ser564=) c.1643G= (p.Ser548=) c.1568G= (p.Ser523=) c.1511G= (p.Ser504=) | |
| 3 | g.30691511G>T | CA71547245 | TGFBR2 | c.1616G>T (p.Ser539Ile) n.500G>T n.3212G>T n.494G>T c.1691G>T (p.Ser564Ile) c.1643G>T (p.Ser548Ile) c.1568G>T (p.Ser523Ile) c.1511G>T (p.Ser504Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30691512T>A | CA351809676 | TGFBR2 | c.1617T>A (p.Ser539Arg) n.501T>A n.3213T>A n.495T>A c.1692T>A (p.Ser564Arg) c.1644T>A (p.Ser548Arg) c.1569T>A (p.Ser523Arg) c.1512T>A (p.Ser504Arg) | dbSNP |
| 3 | g.30691512T>C | CA432918006 | TGFBR2 | c.1617T>C (p.Ser539=) n.501T>C n.3213T>C n.495T>C c.1692T>C (p.Ser564=) c.1644T>C (p.Ser548=) c.1569T>C (p.Ser523=) c.1512T>C (p.Ser504=) | |
| 3 | g.30691512T>G | CA351809677 | TGFBR2 | c.1617T>G (p.Ser539Arg) n.501T>G n.3213T>G n.495T>G c.1692T>G (p.Ser564Arg) c.1644T>G (p.Ser548Arg) c.1569T>G (p.Ser523Arg) c.1512T>G (p.Ser504Arg) | |
| 3 | g.30691513G>A | CA351809678 | TGFBR2 | c.1618G>A (p.Glu540Lys) n.502G>A n.3214G>A n.496G>A c.1693G>A (p.Glu565Lys) c.1645G>A (p.Glu549Lys) c.1570G>A (p.Glu524Lys) c.1513G>A (p.Glu505Lys) | dbSNP gnomAD v4 |
| 3 | g.30691513G>C | CA351809679 | TGFBR2 | c.1618G>C (p.Glu540Gln) n.502G>C n.3214G>C n.496G>C c.1693G>C (p.Glu565Gln) c.1645G>C (p.Glu549Gln) c.1570G>C (p.Glu524Gln) c.1513G>C (p.Glu505Gln) | dbSNP |
| 3 | g.30691513G= | CA1354881703 | TGFBR2 | c.1618G= (p.Glu540=) n.502G= n.3214G= n.496G= c.1693G= (p.Glu565=) c.1645G= (p.Glu549=) c.1570G= (p.Glu524=) c.1513G= (p.Glu505=) | |
| 3 | g.30691513G>T | CA351809680 | TGFBR2 | c.1618G>T (p.Glu540Ter) n.502G>T n.3214G>T n.496G>T c.1693G>T (p.Glu565Ter) c.1645G>T (p.Glu549Ter) c.1570G>T (p.Glu524Ter) c.1513G>T (p.Glu505Ter) | COSMIC COSMIC |
| 3 | g.30691514A>C | CA351809683 | TGFBR2 | c.1619A>C (p.Glu540Ala) n.503A>C n.3215A>C n.497A>C c.1694A>C (p.Glu565Ala) c.1646A>C (p.Glu549Ala) c.1571A>C (p.Glu524Ala) c.1514A>C (p.Glu505Ala) | |
| 3 | g.30691514A>G | CA351809682 | TGFBR2 | c.1619A>G (p.Glu540Gly) n.503A>G n.3215A>G n.497A>G c.1694A>G (p.Glu565Gly) c.1646A>G (p.Glu549Gly) c.1571A>G (p.Glu524Gly) c.1514A>G (p.Glu505Gly) | gnomAD v4 |
| 3 | g.30691514A>T | CA351809681 | TGFBR2 | c.1619A>T (p.Glu540Val) n.503A>T n.3215A>T n.497A>T c.1694A>T (p.Glu565Val) c.1646A>T (p.Glu549Val) c.1571A>T (p.Glu524Val) c.1514A>T (p.Glu505Val) | |
| 3 | g.30691515G>A | CA432918007 | TGFBR2 | c.1620G>A (p.Glu540=) n.504G>A n.3216G>A n.498G>A c.1695G>A (p.Glu565=) c.1647G>A (p.Glu549=) c.1572G>A (p.Glu524=) c.1515G>A (p.Glu505=) | |
| 3 | g.30691515G>C | CA71547254 | TGFBR2 | c.1620G>C (p.Glu540Asp) n.504G>C n.3216G>C n.498G>C c.1695G>C (p.Glu565Asp) c.1647G>C (p.Glu549Asp) c.1572G>C (p.Glu524Asp) c.1515G>C (p.Glu505Asp) | dbSNP |
| 3 | g.30691515G= | CA1354881704 | TGFBR2 | c.1620G= (p.Glu540=) n.504G= n.3216G= n.498G= c.1695G= (p.Glu565=) c.1647G= (p.Glu549=) c.1572G= (p.Glu524=) c.1515G= (p.Glu505=) | |
| 3 | g.30691515G>T | CA351809684 | TGFBR2 | c.1620G>T (p.Glu540Asp) n.504G>T n.3216G>T n.498G>T c.1695G>T (p.Glu565Asp) c.1647G>T (p.Glu549Asp) c.1572G>T (p.Glu524Asp) c.1515G>T (p.Glu505Asp) | |
| 3 | g.30691516C>A | CA351809685 | TGFBR2 | c.1621C>A (p.Leu541Met) n.505C>A n.3217C>A n.499C>A c.1696C>A (p.Leu566Met) c.1648C>A (p.Leu550Met) c.1573C>A (p.Leu525Met) c.1516C>A (p.Leu506Met) | dbSNP |
| 3 | g.30691516C>G | CA351809686 | TGFBR2 | c.1621C>G (p.Leu541Val) n.505C>G n.3217C>G n.499C>G c.1696C>G (p.Leu566Val) c.1648C>G (p.Leu550Val) c.1573C>G (p.Leu525Val) c.1516C>G (p.Leu506Val) | dbSNP |
| 3 | g.30691516C>T | CA432918008 | TGFBR2 | c.1621C>T (p.Leu541=) n.505C>T n.3217C>T n.499C>T c.1696C>T (p.Leu566=) c.1648C>T (p.Leu550=) c.1573C>T (p.Leu525=) c.1516C>T (p.Leu506=) | dbSNP |
| 3 | g.30691517T>A | CA351809687 | TGFBR2 | c.1622T>A (p.Leu541Gln) n.506T>A n.3218T>A n.500T>A c.1697T>A (p.Leu566Gln) c.1649T>A (p.Leu550Gln) c.1574T>A (p.Leu525Gln) c.1517T>A (p.Leu506Gln) | dbSNP |
| 3 | g.30691517T>C | CA351809688 | TGFBR2 | c.1622T>C (p.Leu541Pro) n.506T>C n.3218T>C n.500T>C c.1697T>C (p.Leu566Pro) c.1649T>C (p.Leu550Pro) c.1574T>C (p.Leu525Pro) c.1517T>C (p.Leu506Pro) | |
| 3 | g.30691517T>G | CA351809689 | TGFBR2 | c.1622T>G (p.Leu541Arg) n.506T>G n.3218T>G n.500T>G c.1697T>G (p.Leu566Arg) c.1649T>G (p.Leu550Arg) c.1574T>G (p.Leu525Arg) c.1517T>G (p.Leu506Arg) | |
| 3 | g.30691518G>A | CA432918009 | TGFBR2 | c.1623G>A (p.Leu541=) n.507G>A n.3219G>A n.501G>A c.1698G>A (p.Leu566=) c.1650G>A (p.Leu550=) c.1575G>A (p.Leu525=) c.1518G>A (p.Leu506=) | dbSNP |
| 3 | g.30691518G>C | CA432918010 | TGFBR2 | c.1623G>C (p.Leu541=) n.507G>C n.3219G>C n.501G>C c.1698G>C (p.Leu566=) c.1650G>C (p.Leu550=) c.1575G>C (p.Leu525=) c.1518G>C (p.Leu506=) | |
| 3 | g.30691518G>T | CA432918011 | TGFBR2 | c.1623G>T (p.Leu541=) n.507G>T n.3219G>T n.501G>T c.1698G>T (p.Leu566=) c.1650G>T (p.Leu550=) c.1575G>T (p.Leu525=) c.1518G>T (p.Leu506=) | |
| 3 | g.30691519G>A | CA351809690 | TGFBR2 | c.1624G>A (p.Glu542Lys) n.508G>A n.3220G>A n.502G>A c.1699G>A (p.Glu567Lys) c.1651G>A (p.Glu551Lys) c.1576G>A (p.Glu526Lys) c.1519G>A (p.Glu507Lys) | dbSNP |
| 3 | g.30691519G>C | CA351809691 | TGFBR2 | c.1624G>C (p.Glu542Gln) n.508G>C n.3220G>C n.502G>C c.1699G>C (p.Glu567Gln) c.1651G>C (p.Glu551Gln) c.1576G>C (p.Glu526Gln) c.1519G>C (p.Glu507Gln) | dbSNP |
| 3 | g.30691519G>T | CA351809692 | TGFBR2 | c.1624G>T (p.Glu542Ter) n.508G>T n.3220G>T n.502G>T c.1699G>T (p.Glu567Ter) c.1651G>T (p.Glu551Ter) c.1576G>T (p.Glu526Ter) c.1519G>T (p.Glu507Ter) | |
| 3 | g.30691520A>C | CA351809693 | TGFBR2 | c.1625A>C (p.Glu542Ala) n.509A>C n.3221A>C n.503A>C c.1700A>C (p.Glu567Ala) c.1652A>C (p.Glu551Ala) c.1577A>C (p.Glu526Ala) c.1520A>C (p.Glu507Ala) | |
| 3 | g.30691520A>G | CA351809694 | TGFBR2 | c.1625A>G (p.Glu542Gly) n.509A>G n.3221A>G n.503A>G c.1700A>G (p.Glu567Gly) c.1652A>G (p.Glu551Gly) c.1577A>G (p.Glu526Gly) c.1520A>G (p.Glu507Gly) | dbSNP |
| 3 | g.30691520A>T | CA351809695 | TGFBR2 | c.1625A>T (p.Glu542Val) n.509A>T n.3221A>T n.503A>T c.1700A>T (p.Glu567Val) c.1652A>T (p.Glu551Val) c.1577A>T (p.Glu526Val) c.1520A>T (p.Glu507Val) | dbSNP |
| 3 | g.30691521G>A | CA047146 | TGFBR2 | c.1626G>A (p.Glu542=) n.510G>A n.3222G>A n.504G>A c.1701G>A (p.Glu567=) c.1653G>A (p.Glu551=) c.1578G>A (p.Glu526=) c.1521G>A (p.Glu507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30691521G>C | CA351809697 | TGFBR2 | c.1626G>C (p.Glu542Asp) n.510G>C n.3222G>C n.504G>C c.1701G>C (p.Glu567Asp) c.1653G>C (p.Glu551Asp) c.1578G>C (p.Glu526Asp) c.1521G>C (p.Glu507Asp) | |
| 3 | g.30691521G= | CA1354881705 | TGFBR2 | c.1626G= (p.Glu542=) n.510G= n.3222G= n.504G= c.1701G= (p.Glu567=) c.1653G= (p.Glu551=) c.1578G= (p.Glu526=) c.1521G= (p.Glu507=) | |
| 3 | g.30691521G>T | CA351809696 | TGFBR2 | c.1626G>T (p.Glu542Asp) n.510G>T n.3222G>T n.504G>T c.1701G>T (p.Glu567Asp) c.1653G>T (p.Glu551Asp) c.1578G>T (p.Glu526Asp) c.1521G>T (p.Glu507Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30691522C>A | CA351809700 | TGFBR2 | c.1627C>A (p.His543Asn) n.511C>A n.3223C>A n.505C>A c.1702C>A (p.His568Asn) c.1654C>A (p.His552Asn) c.1579C>A (p.His527Asn) c.1522C>A (p.His508Asn) | dbSNP gnomAD v4 |
| 3 | g.30691522C= | CA1354881706 | TGFBR2 | c.1627C= (p.His543=) n.511C= n.3223C= n.505C= c.1702C= (p.His568=) c.1654C= (p.His552=) c.1579C= (p.His527=) c.1522C= (p.His508=) | |
| 3 | g.30691522C>G | CA351809698 | TGFBR2 | c.1627C>G (p.His543Asp) n.511C>G n.3223C>G n.505C>G c.1702C>G (p.His568Asp) c.1654C>G (p.His552Asp) c.1579C>G (p.His527Asp) c.1522C>G (p.His508Asp) | dbSNP |
| 3 | g.30691522C>T | CA351809699 | TGFBR2 | c.1627C>T (p.His543Tyr) n.511C>T n.3223C>T n.505C>T c.1702C>T (p.His568Tyr) c.1654C>T (p.His552Tyr) c.1579C>T (p.His527Tyr) c.1522C>T (p.His508Tyr) | dbSNP |
| 3 | g.30691523A= | CA1354881707 | TGFBR2 | c.1628A= (p.His543=) n.512A= n.3224A= n.506A= c.1703A= (p.His568=) c.1655A= (p.His552=) c.1580A= (p.His527=) c.1523A= (p.His508=) | |
| 3 | g.30691523A>C | CA351809701 | TGFBR2 | c.1628A>C (p.His543Pro) n.512A>C n.3224A>C n.506A>C c.1703A>C (p.His568Pro) c.1655A>C (p.His552Pro) c.1580A>C (p.His527Pro) c.1523A>C (p.His508Pro) | dbSNP |
| 3 | g.30691523A>G | CA351809702 | TGFBR2 | c.1628A>G (p.His543Arg) n.512A>G n.3224A>G n.506A>G c.1703A>G (p.His568Arg) c.1655A>G (p.His552Arg) c.1580A>G (p.His527Arg) c.1523A>G (p.His508Arg) | dbSNP gnomAD v4 |
| 3 | g.30691523A>T | CA351809703 | TGFBR2 | c.1628A>T (p.His543Leu) n.512A>T n.3224A>T n.506A>T c.1703A>T (p.His568Leu) c.1655A>T (p.His552Leu) c.1580A>T (p.His527Leu) c.1523A>T (p.His508Leu) | dbSNP |
| 3 | g.30691523_30691524dup | CA541978341 | TGFBR2 | c.1628_1629dup (p.Leu544IlefsTer21) n.512_513dup n.3224_3225dup n.506_507dup c.1703_1704dup (p.Leu569IlefsTer21) c.1655_1656dup (p.Leu553IlefsTer21) c.1580_1581dup (p.Leu528IlefsTer21) c.1523_1524dup (p.Leu509IlefsTer21) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30691524T>A | CA351809704 | TGFBR2 | c.1629T>A (p.His543Gln) n.513T>A n.3225T>A n.507T>A c.1704T>A (p.His568Gln) c.1656T>A (p.His552Gln) c.1581T>A (p.His527Gln) c.1524T>A (p.His508Gln) | ClinVar |
| 3 | g.30691524T>C | CA432918012 | TGFBR2 | c.1629T>C (p.His543=) n.513T>C n.3225T>C n.507T>C c.1704T>C (p.His568=) c.1656T>C (p.His552=) c.1581T>C (p.His527=) c.1524T>C (p.His508=) | |
| 3 | g.30691524T>G | CA351809705 | TGFBR2 | c.1629T>G (p.His543Gln) n.513T>G n.3225T>G n.507T>G c.1704T>G (p.His568Gln) c.1656T>G (p.His552Gln) c.1581T>G (p.His527Gln) c.1524T>G (p.His508Gln) | |
| 3 | g.30691525C>A | CA351809706 | TGFBR2 | c.1630C>A (p.Leu544Met) n.514C>A n.3226C>A n.508C>A c.1705C>A (p.Leu569Met) c.1657C>A (p.Leu553Met) c.1582C>A (p.Leu528Met) c.1525C>A (p.Leu509Met) | COSMIC COSMIC |
| 3 | g.30691525C= | CA1354881708 | TGFBR2 | c.1630C= (p.Leu544=) n.514C= n.3226C= n.508C= c.1705C= (p.Leu569=) c.1657C= (p.Leu553=) c.1582C= (p.Leu528=) c.1525C= (p.Leu509=) | |
| 3 | g.30691525C>G | CA351809707 | TGFBR2 | c.1630C>G (p.Leu544Val) n.514C>G n.3226C>G n.508C>G c.1705C>G (p.Leu569Val) c.1657C>G (p.Leu553Val) c.1582C>G (p.Leu528Val) c.1525C>G (p.Leu509Val) | dbSNP gnomAD v4 |
| 3 | g.30691525C>T | CA432918013 | TGFBR2 | c.1630C>T (p.Leu544=) n.514C>T n.3226C>T n.508C>T c.1705C>T (p.Leu569=) c.1657C>T (p.Leu553=) c.1582C>T (p.Leu528=) c.1525C>T (p.Leu509=) | dbSNP |
| 3 | g.30691526T>A | CA351809708 | TGFBR2 | c.1631T>A (p.Leu544Gln) n.515T>A n.3227T>A n.509T>A c.1706T>A (p.Leu569Gln) c.1658T>A (p.Leu553Gln) c.1583T>A (p.Leu528Gln) c.1526T>A (p.Leu509Gln) | |
| 3 | g.30691526T>C | CA351809709 | TGFBR2 | c.1631T>C (p.Leu544Pro) n.515T>C n.3227T>C n.509T>C c.1706T>C (p.Leu569Pro) c.1658T>C (p.Leu553Pro) c.1583T>C (p.Leu528Pro) c.1526T>C (p.Leu509Pro) | |
| 3 | g.30691526T>G | CA351809710 | TGFBR2 | c.1631T>G (p.Leu544Arg) n.515T>G n.3227T>G n.509T>G c.1706T>G (p.Leu569Arg) c.1658T>G (p.Leu553Arg) c.1583T>G (p.Leu528Arg) c.1526T>G (p.Leu509Arg) | |
| 3 | g.30691527G>A | CA432918014 | TGFBR2 | c.1632G>A (p.Leu544=) n.516G>A n.3228G>A n.510G>A c.1707G>A (p.Leu569=) c.1659G>A (p.Leu553=) c.1584G>A (p.Leu528=) c.1527G>A (p.Leu509=) | dbSNP |
| 3 | g.30691527G>C | CA432918015 | TGFBR2 | c.1632G>C (p.Leu544=) n.516G>C n.3228G>C n.510G>C c.1707G>C (p.Leu569=) c.1659G>C (p.Leu553=) c.1584G>C (p.Leu528=) c.1527G>C (p.Leu509=) | dbSNP |
| 3 | g.30691527G>T | CA432918016 | TGFBR2 | c.1632G>T (p.Leu544=) n.516G>T n.3228G>T n.510G>T c.1707G>T (p.Leu569=) c.1659G>T (p.Leu553=) c.1584G>T (p.Leu528=) c.1527G>T (p.Leu509=) | |
| 3 | g.30691528G>A | CA351809713 | TGFBR2 | c.1633G>A (p.Asp545Asn) n.517G>A n.3229G>A n.511G>A c.1708G>A (p.Asp570Asn) c.1660G>A (p.Asp554Asn) c.1585G>A (p.Asp529Asn) c.1528G>A (p.Asp510Asn) | ClinVar dbSNP |
| 3 | g.30691528G>C | CA351809711 | TGFBR2 | c.1633G>C (p.Asp545His) n.517G>C n.3229G>C n.511G>C c.1708G>C (p.Asp570His) c.1660G>C (p.Asp554His) c.1585G>C (p.Asp529His) c.1528G>C (p.Asp510His) | dbSNP |
| 3 | g.30691528G>T | CA351809712 | TGFBR2 | c.1633G>T (p.Asp545Tyr) n.517G>T n.3229G>T n.511G>T c.1708G>T (p.Asp570Tyr) c.1660G>T (p.Asp554Tyr) c.1585G>T (p.Asp529Tyr) c.1528G>T (p.Asp510Tyr) | |
| 3 | g.30691529A>C | CA351809714 | TGFBR2 | c.1634A>C (p.Asp545Ala) n.518A>C n.3230A>C n.512A>C c.1709A>C (p.Asp570Ala) c.1661A>C (p.Asp554Ala) c.1586A>C (p.Asp529Ala) c.1529A>C (p.Asp510Ala) | dbSNP |
| 3 | g.30691529A>G | CA351809715 | TGFBR2 | c.1634A>G (p.Asp545Gly) n.518A>G n.3230A>G n.512A>G c.1709A>G (p.Asp570Gly) c.1661A>G (p.Asp554Gly) c.1586A>G (p.Asp529Gly) c.1529A>G (p.Asp510Gly) | dbSNP |
| 3 | g.30691529A>T | CA351809716 | TGFBR2 | c.1634A>T (p.Asp545Val) n.518A>T n.3230A>T n.512A>T c.1709A>T (p.Asp570Val) c.1661A>T (p.Asp554Val) c.1586A>T (p.Asp529Val) c.1529A>T (p.Asp510Val) | dbSNP |
| 3 | g.30691530C>A | CA351809717 | TGFBR2 | c.1635C>A (p.Asp545Glu) n.519C>A n.3231C>A n.513C>A c.1710C>A (p.Asp570Glu) c.1662C>A (p.Asp554Glu) c.1587C>A (p.Asp529Glu) c.1530C>A (p.Asp510Glu) | |
| 3 | g.30691530C= | CA1354881709 | TGFBR2 | c.1635C= (p.Asp545=) n.519C= n.3231C= n.513C= c.1710C= (p.Asp570=) c.1662C= (p.Asp554=) c.1587C= (p.Asp529=) c.1530C= (p.Asp510=) | |
| 3 | g.30691530C>G | CA351809718 | TGFBR2 | c.1635C>G (p.Asp545Glu) n.519C>G n.3231C>G n.513C>G c.1710C>G (p.Asp570Glu) c.1662C>G (p.Asp554Glu) c.1587C>G (p.Asp529Glu) c.1530C>G (p.Asp510Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30691530C>T | CA432918017 | TGFBR2 | c.1635C>T (p.Asp545=) n.519C>T n.3231C>T n.513C>T c.1710C>T (p.Asp570=) c.1662C>T (p.Asp554=) c.1587C>T (p.Asp529=) c.1530C>T (p.Asp510=) | dbSNP |
| 3 | g.30691531A>C | CA432918018 | TGFBR2 | c.1636A>C (p.Arg546=) n.520A>C n.3232A>C n.514A>C c.1711A>C (p.Arg571=) c.1663A>C (p.Arg555=) c.1588A>C (p.Arg530=) c.1531A>C (p.Arg511=) | |
| 3 | g.30691531A>G | CA351809719 | TGFBR2 | c.1636A>G (p.Arg546Gly) n.520A>G n.3232A>G n.514A>G c.1711A>G (p.Arg571Gly) c.1663A>G (p.Arg555Gly) c.1588A>G (p.Arg530Gly) c.1531A>G (p.Arg511Gly) | |
| 3 | g.30691531A>T | CA351809720 | TGFBR2 | c.1636A>T (p.Arg546Trp) n.520A>T n.3232A>T n.514A>T c.1711A>T (p.Arg571Trp) c.1663A>T (p.Arg555Trp) c.1588A>T (p.Arg530Trp) c.1531A>T (p.Arg511Trp) | |
| 3 | g.30691532G>A | CA351809721 | TGFBR2 | c.1637G>A (p.Arg546Lys) n.521G>A n.3233G>A n.515G>A c.1712G>A (p.Arg571Lys) c.1664G>A (p.Arg555Lys) c.1589G>A (p.Arg530Lys) c.1532G>A (p.Arg511Lys) | dbSNP |
| 3 | g.30691532G>C | CA351809722 | TGFBR2 | c.1637G>C (p.Arg546Thr) n.521G>C n.3233G>C n.515G>C c.1712G>C (p.Arg571Thr) c.1664G>C (p.Arg555Thr) c.1589G>C (p.Arg530Thr) c.1532G>C (p.Arg511Thr) | |
| 3 | g.30691532G= | CA1354881710 | TGFBR2 | c.1637G= (p.Arg546=) n.521G= n.3233G= n.515G= c.1712G= (p.Arg571=) c.1664G= (p.Arg555=) c.1589G= (p.Arg530=) c.1532G= (p.Arg511=) | |
| 3 | g.30691532G>T | CA351809723 | TGFBR2 | c.1637G>T (p.Arg546Met) n.521G>T n.3233G>T n.515G>T c.1712G>T (p.Arg571Met) c.1664G>T (p.Arg555Met) c.1589G>T (p.Arg530Met) c.1532G>T (p.Arg511Met) | dbSNP |
| 3 | g.30691533G>A | CA432918019 | TGFBR2 | c.1638G>A (p.Arg546=) n.522G>A n.3234G>A n.516G>A c.1713G>A (p.Arg571=) c.1665G>A (p.Arg555=) c.1590G>A (p.Arg530=) c.1533G>A (p.Arg511=) | dbSNP gnomAD v4 |
| 3 | g.30691533G>C | CA351809724 | TGFBR2 | c.1638G>C (p.Arg546Ser) n.522G>C n.3234G>C n.516G>C c.1713G>C (p.Arg571Ser) c.1665G>C (p.Arg555Ser) c.1590G>C (p.Arg530Ser) c.1533G>C (p.Arg511Ser) | dbSNP |
| 3 | g.30691533G>T | CA351809725 | TGFBR2 | c.1638G>T (p.Arg546Ser) n.522G>T n.3234G>T n.516G>T c.1713G>T (p.Arg571Ser) c.1665G>T (p.Arg555Ser) c.1590G>T (p.Arg530Ser) c.1533G>T (p.Arg511Ser) | |
| 3 | g.30691534C>A | CA351809726 | TGFBR2 | c.1639C>A (p.Leu547Ile) n.523C>A n.3235C>A n.517C>A c.1714C>A (p.Leu572Ile) c.1666C>A (p.Leu556Ile) c.1591C>A (p.Leu531Ile) c.1534C>A (p.Leu512Ile) | dbSNP |
| 3 | g.30691534C= | CA1354881711 | TGFBR2 | c.1639C= (p.Leu547=) n.523C= n.3235C= n.517C= c.1714C= (p.Leu572=) c.1666C= (p.Leu556=) c.1591C= (p.Leu531=) c.1534C= (p.Leu512=) | |
| 3 | g.30691534C>G | CA351809727 | TGFBR2 | c.1639C>G (p.Leu547Val) n.523C>G n.3235C>G n.517C>G c.1714C>G (p.Leu572Val) c.1666C>G (p.Leu556Val) c.1591C>G (p.Leu531Val) c.1534C>G (p.Leu512Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30691534C>T | CA047159 | TGFBR2 | c.1639C>T (p.Leu547Phe) n.523C>T n.3235C>T n.517C>T c.1714C>T (p.Leu572Phe) c.1666C>T (p.Leu556Phe) c.1591C>T (p.Leu531Phe) c.1534C>T (p.Leu512Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |