| 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.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) |