UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30688419G>A | CA351809260 | TGFBR2 | c.1432G>A (p.Val478Met) n.316G>A n.3028G>A n.310G>A c.1507G>A (p.Val503Met) c.1459G>A (p.Val487Met) c.1384G>A (p.Val462Met) c.1327G>A (p.Val443Met) | |
| 3 | g.30688419G>C | CA351809261 | TGFBR2 | c.1432G>C (p.Val478Leu) n.316G>C n.3028G>C n.310G>C c.1507G>C (p.Val503Leu) c.1459G>C (p.Val487Leu) c.1384G>C (p.Val462Leu) c.1327G>C (p.Val443Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30688419G= | CA1354880334 | TGFBR2 | c.1432G= (p.Val478=) n.316G= n.3028G= n.310G= c.1507G= (p.Val503=) c.1459G= (p.Val487=) c.1384G= (p.Val462=) c.1327G= (p.Val443=) | |
| 3 | g.30688419G>T | CA351809262 | TGFBR2 | c.1432G>T (p.Val478Leu) n.316G>T n.3028G>T n.310G>T c.1507G>T (p.Val503Leu) c.1459G>T (p.Val487Leu) c.1384G>T (p.Val462Leu) c.1327G>T (p.Val443Leu) | gnomAD v4 |
| 3 | g.30688420T>A | CA351809263 | TGFBR2 | c.1433T>A (p.Val478Glu) n.317T>A n.3029T>A n.311T>A c.1508T>A (p.Val503Glu) c.1460T>A (p.Val487Glu) c.1385T>A (p.Val462Glu) c.1328T>A (p.Val443Glu) | dbSNP |
| 3 | g.30688420T>C | CA351809264 | TGFBR2 | c.1433T>C (p.Val478Ala) n.317T>C n.3029T>C n.311T>C c.1508T>C (p.Val503Ala) c.1460T>C (p.Val487Ala) c.1385T>C (p.Val462Ala) c.1328T>C (p.Val443Ala) | |
| 3 | g.30688420T>G | CA351809265 | TGFBR2 | c.1433T>G (p.Val478Gly) n.317T>G n.3029T>G n.311T>G c.1508T>G (p.Val503Gly) c.1460T>G (p.Val487Gly) c.1385T>G (p.Val462Gly) c.1328T>G (p.Val443Gly) | dbSNP |
| 3 | g.30688421G>A | CA432917812 | TGFBR2 | c.1434G>A (p.Val478=) n.318G>A n.3030G>A n.312G>A c.1509G>A (p.Val503=) c.1461G>A (p.Val487=) c.1386G>A (p.Val462=) c.1329G>A (p.Val443=) | COSMIC COSMIC |
| 3 | g.30688421G>C | CA432917814 | TGFBR2 | c.1434G>C (p.Val478=) n.318G>C n.3030G>C n.312G>C c.1509G>C (p.Val503=) c.1461G>C (p.Val487=) c.1386G>C (p.Val462=) c.1329G>C (p.Val443=) | dbSNP |
| 3 | g.30688421G>T | CA432917813 | TGFBR2 | c.1434G>T (p.Val478=) n.318G>T n.3030G>T n.312G>T c.1509G>T (p.Val503=) c.1461G>T (p.Val487=) c.1386G>T (p.Val462=) c.1329G>T (p.Val443=) | |
| 3 | g.30688422C>A | CA432917815 | TGFBR2 | c.1435C>A (p.Arg479=) n.319C>A n.3031C>A n.313C>A c.1510C>A (p.Arg504=) c.1462C>A (p.Arg488=) c.1387C>A (p.Arg463=) c.1330C>A (p.Arg444=) | |
| 3 | g.30688422C= | CA1354880335 | TGFBR2 | c.1435C= (p.Arg479=) n.319C= n.3031C= n.313C= c.1510C= (p.Arg504=) c.1462C= (p.Arg488=) c.1387C= (p.Arg463=) c.1330C= (p.Arg444=) | |
| 3 | g.30688422C>G | CA351809266 | TGFBR2 | c.1435C>G (p.Arg479Gly) n.319C>G n.3031C>G n.313C>G c.1510C>G (p.Arg504Gly) c.1462C>G (p.Arg488Gly) c.1387C>G (p.Arg463Gly) c.1330C>G (p.Arg444Gly) | dbSNP |
| 3 | g.30688422C>T | CA351809267 | TGFBR2 | c.1435C>T (p.Arg479Trp) n.319C>T n.3031C>T n.313C>T c.1510C>T (p.Arg504Trp) c.1462C>T (p.Arg488Trp) c.1387C>T (p.Arg463Trp) c.1330C>T (p.Arg444Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.30688423G>A | CA351809268 | TGFBR2 | c.1436G>A (p.Arg479Gln) n.320G>A n.3032G>A n.314G>A c.1511G>A (p.Arg504Gln) c.1463G>A (p.Arg488Gln) c.1388G>A (p.Arg463Gln) c.1331G>A (p.Arg444Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.30688423G>C | CA351809269 | TGFBR2 | c.1436G>C (p.Arg479Pro) n.320G>C n.3032G>C n.314G>C c.1511G>C (p.Arg504Pro) c.1463G>C (p.Arg488Pro) c.1388G>C (p.Arg463Pro) c.1331G>C (p.Arg444Pro) | dbSNP |
| 3 | g.30688423G= | CA1354880336 | TGFBR2 | c.1436G= (p.Arg479=) n.320G= n.3032G= n.314G= c.1511G= (p.Arg504=) c.1463G= (p.Arg488=) c.1388G= (p.Arg463=) c.1331G= (p.Arg444=) | |
| 3 | g.30688423G>T | CA351809270 | TGFBR2 | c.1436G>T (p.Arg479Leu) n.320G>T n.3032G>T n.314G>T c.1511G>T (p.Arg504Leu) c.1463G>T (p.Arg488Leu) c.1388G>T (p.Arg463Leu) c.1331G>T (p.Arg444Leu) | ClinVar dbSNP |
| 3 | g.30688424G>A | CA432917816 | TGFBR2 | c.1437G>A (p.Arg479=) n.321G>A n.3033G>A n.315G>A c.1512G>A (p.Arg504=) c.1464G>A (p.Arg488=) c.1389G>A (p.Arg463=) c.1332G>A (p.Arg444=) | dbSNP |
| 3 | g.30688424G>C | CA432917817 | TGFBR2 | c.1437G>C (p.Arg479=) n.321G>C n.3033G>C n.315G>C c.1512G>C (p.Arg504=) c.1464G>C (p.Arg488=) c.1389G>C (p.Arg463=) c.1332G>C (p.Arg444=) | dbSNP |
| 3 | g.30688424G= | CA1354880337 | TGFBR2 | c.1437G= (p.Arg479=) n.321G= n.3033G= n.315G= c.1512G= (p.Arg504=) c.1464G= (p.Arg488=) c.1389G= (p.Arg463=) c.1332G= (p.Arg444=) | |
| 3 | g.30688424G>T | CA432917818 | TGFBR2 | c.1437G>T (p.Arg479=) n.321G>T n.3033G>T n.315G>T c.1512G>T (p.Arg504=) c.1464G>T (p.Arg488=) c.1389G>T (p.Arg463=) c.1332G>T (p.Arg444=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30688425G>A | CA351809273 | TGFBR2 | c.1438G>A (p.Glu480Lys) n.322G>A n.3034G>A n.316G>A c.1513G>A (p.Glu505Lys) c.1465G>A (p.Glu489Lys) c.1390G>A (p.Glu464Lys) c.1333G>A (p.Glu445Lys) | dbSNP |
| 3 | g.30688425G>C | CA351809272 | TGFBR2 | c.1438G>C (p.Glu480Gln) n.322G>C n.3034G>C n.316G>C c.1513G>C (p.Glu505Gln) c.1465G>C (p.Glu489Gln) c.1390G>C (p.Glu464Gln) c.1333G>C (p.Glu445Gln) | dbSNP |
| 3 | g.30688425G>T | CA351809271 | TGFBR2 | c.1438G>T (p.Glu480Ter) n.322G>T n.3034G>T n.316G>T c.1513G>T (p.Glu505Ter) c.1465G>T (p.Glu489Ter) c.1390G>T (p.Glu464Ter) c.1333G>T (p.Glu445Ter) | COSMIC COSMIC |
| 3 | g.30688427_30688441del | CA2664867934 | TGFBR2 | c.1440_1454del (p.His481_Glu485del) n.324_338del n.3036_3050del n.318_332del c.1515_1529del (p.His506_Glu510del) c.1467_1481del (p.His490_Glu494del) c.1392_1406del (p.His465_Glu469del) c.1335_1349del (p.His446_Glu450del) | gnomAD v4 |
| 3 | g.30688426A>C | CA351809274 | TGFBR2 | c.1439A>C (p.Glu480Ala) n.323A>C n.3035A>C n.317A>C c.1514A>C (p.Glu505Ala) c.1466A>C (p.Glu489Ala) c.1391A>C (p.Glu464Ala) c.1334A>C (p.Glu445Ala) | |
| 3 | g.30688426A>G | CA351809275 | TGFBR2 | c.1439A>G (p.Glu480Gly) n.323A>G n.3035A>G n.317A>G c.1514A>G (p.Glu505Gly) c.1466A>G (p.Glu489Gly) c.1391A>G (p.Glu464Gly) c.1334A>G (p.Glu445Gly) | dbSNP |
| 3 | g.30688426A>T | CA351809276 | TGFBR2 | c.1439A>T (p.Glu480Val) n.323A>T n.3035A>T n.317A>T c.1514A>T (p.Glu505Val) c.1466A>T (p.Glu489Val) c.1391A>T (p.Glu464Val) c.1334A>T (p.Glu445Val) | dbSNP |
| 3 | g.30688427G>A | CA432917819 | TGFBR2 | c.1440G>A (p.Glu480=) n.324G>A n.3036G>A n.318G>A c.1515G>A (p.Glu505=) c.1467G>A (p.Glu489=) c.1392G>A (p.Glu464=) c.1335G>A (p.Glu445=) | dbSNP |
| 3 | g.30688427G>C | CA351809277 | TGFBR2 | c.1440G>C (p.Glu480Asp) n.324G>C n.3036G>C n.318G>C c.1515G>C (p.Glu505Asp) c.1467G>C (p.Glu489Asp) c.1392G>C (p.Glu464Asp) c.1335G>C (p.Glu445Asp) | dbSNP |
| 3 | g.30688427G>T | CA351809278 | TGFBR2 | c.1440G>T (p.Glu480Asp) n.324G>T n.3036G>T n.318G>T c.1515G>T (p.Glu505Asp) c.1467G>T (p.Glu489Asp) c.1392G>T (p.Glu464Asp) c.1335G>T (p.Glu445Asp) | |
| 3 | g.30688428C>A | CA351809279 | TGFBR2 | c.1441C>A (p.His481Asn) n.325C>A n.3037C>A n.319C>A c.1516C>A (p.His506Asn) c.1468C>A (p.His490Asn) c.1393C>A (p.His465Asn) c.1336C>A (p.His446Asn) | |
| 3 | g.30688428C= | CA1354880338 | TGFBR2 | c.1441C= (p.His481=) n.325C= n.3037C= n.319C= c.1516C= (p.His506=) c.1468C= (p.His490=) c.1393C= (p.His465=) c.1336C= (p.His446=) | |
| 3 | g.30688428C>G | CA351809280 | TGFBR2 | c.1441C>G (p.His481Asp) n.325C>G n.3037C>G n.319C>G c.1516C>G (p.His506Asp) c.1468C>G (p.His490Asp) c.1393C>G (p.His465Asp) c.1336C>G (p.His446Asp) | dbSNP |
| 3 | g.30688428C>T | CA046582 | TGFBR2 | c.1441C>T (p.His481Tyr) n.325C>T n.3037C>T n.319C>T c.1516C>T (p.His506Tyr) c.1468C>T (p.His490Tyr) c.1393C>T (p.His465Tyr) c.1336C>T (p.His446Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688429A>C | CA351809281 | TGFBR2 | c.1442A>C (p.His481Pro) n.326A>C n.3038A>C n.320A>C c.1517A>C (p.His506Pro) c.1469A>C (p.His490Pro) c.1394A>C (p.His465Pro) c.1337A>C (p.His446Pro) | |
| 3 | g.30688429A>G | CA351809282 | TGFBR2 | c.1442A>G (p.His481Arg) n.326A>G n.3038A>G n.320A>G c.1517A>G (p.His506Arg) c.1469A>G (p.His490Arg) c.1394A>G (p.His465Arg) c.1337A>G (p.His446Arg) | |
| 3 | g.30688429A>T | CA351809283 | TGFBR2 | c.1442A>T (p.His481Leu) n.326A>T n.3038A>T n.320A>T c.1517A>T (p.His506Leu) c.1469A>T (p.His490Leu) c.1394A>T (p.His465Leu) c.1337A>T (p.His446Leu) | |
| 3 | g.30688430C>A | CA351809284 | TGFBR2 | c.1443C>A (p.His481Gln) n.327C>A n.3039C>A n.321C>A c.1518C>A (p.His506Gln) c.1470C>A (p.His490Gln) c.1395C>A (p.His465Gln) c.1338C>A (p.His446Gln) | gnomAD v4 |
| 3 | g.30688430C>G | CA351809285 | TGFBR2 | c.1443C>G (p.His481Gln) n.327C>G n.3039C>G n.321C>G c.1518C>G (p.His506Gln) c.1470C>G (p.His490Gln) c.1395C>G (p.His465Gln) c.1338C>G (p.His446Gln) | dbSNP |
| 3 | g.30688430C>T | CA432917820 | TGFBR2 | c.1443C>T (p.His481=) n.327C>T n.3039C>T n.321C>T c.1518C>T (p.His506=) c.1470C>T (p.His490=) c.1395C>T (p.His465=) c.1338C>T (p.His446=) | dbSNP |
| 3 | g.30688431C>A | CA351809288 | TGFBR2 | c.1444C>A (p.Pro482Thr) n.328C>A n.3040C>A n.322C>A c.1519C>A (p.Pro507Thr) c.1471C>A (p.Pro491Thr) c.1396C>A (p.Pro466Thr) c.1339C>A (p.Pro447Thr) | dbSNP COSMIC COSMIC |
| 3 | g.30688431C>G | CA351809287 | TGFBR2 | c.1444C>G (p.Pro482Ala) n.328C>G n.3040C>G n.322C>G c.1519C>G (p.Pro507Ala) c.1471C>G (p.Pro491Ala) c.1396C>G (p.Pro466Ala) c.1339C>G (p.Pro447Ala) | dbSNP |
| 3 | g.30688431C>T | CA351809286 | TGFBR2 | c.1444C>T (p.Pro482Ser) n.328C>T n.3040C>T n.322C>T c.1519C>T (p.Pro507Ser) c.1471C>T (p.Pro491Ser) c.1396C>T (p.Pro466Ser) c.1339C>T (p.Pro447Ser) | dbSNP |
| 3 | g.30688432C>A | CA351809290 | TGFBR2 | c.1445C>A (p.Pro482His) n.329C>A n.3041C>A n.323C>A c.1520C>A (p.Pro507His) c.1472C>A (p.Pro491His) c.1397C>A (p.Pro466His) c.1340C>A (p.Pro447His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30688432C>G | CA351809289 | TGFBR2 | c.1445C>G (p.Pro482Arg) n.329C>G n.3041C>G n.323C>G c.1520C>G (p.Pro507Arg) c.1472C>G (p.Pro491Arg) c.1397C>G (p.Pro466Arg) c.1340C>G (p.Pro447Arg) | dbSNP gnomAD v4 |
| 3 | g.30688432C>T | CA351809291 | TGFBR2 | c.1445C>T (p.Pro482Leu) n.329C>T n.3041C>T n.323C>T c.1520C>T (p.Pro507Leu) c.1472C>T (p.Pro491Leu) c.1397C>T (p.Pro466Leu) c.1340C>T (p.Pro447Leu) | dbSNP COSMIC COSMIC |
| 3 | g.30688432_30688434delinsCCT | CA1354880339 | TGFBR2 | c.1445_1447delinsCCT (p.Pro482=) n.329_331delinsCCT n.3041_3043delinsCCT n.323_325delinsCCT c.1520_1522delinsCCT (p.Pro507=) c.1472_1474delinsCCT (p.Pro491=) c.1397_1399delinsCCT (p.Pro466=) c.1340_1342delinsCCT (p.Pro447=) | |
| 3 | g.30688433C>A | CA432917821 | TGFBR2 | c.1446C>A (p.Pro482=) n.330C>A n.3042C>A n.324C>A c.1521C>A (p.Pro507=) c.1473C>A (p.Pro491=) c.1398C>A (p.Pro466=) c.1341C>A (p.Pro447=) | dbSNP |
| 3 | g.30688433C>G | CA432917823 | TGFBR2 | c.1446C>G (p.Pro482=) n.330C>G n.3042C>G n.324C>G c.1521C>G (p.Pro507=) c.1473C>G (p.Pro491=) c.1398C>G (p.Pro466=) c.1341C>G (p.Pro447=) | dbSNP |
| 3 | g.30688433C>T | CA432917822 | TGFBR2 | c.1446C>T (p.Pro482=) n.330C>T n.3042C>T n.324C>T c.1521C>T (p.Pro507=) c.1473C>T (p.Pro491=) c.1398C>T (p.Pro466=) c.1341C>T (p.Pro447=) | ClinVar dbSNP |
| 3 | g.30688433_30688434del | CA913189463 | TGFBR2 | c.1446_1447del (p.Val484ArgfsTer?) n.330_331del n.3042_3043del n.324_325del c.1521_1522del (p.Val509ArgfsTer?) c.1473_1474del (p.Val493ArgfsTer?) c.1398_1399del (p.Val468ArgfsTer?) c.1341_1342del (p.Val449ArgfsTer?) | ClinVar dbSNP |
| 3 | g.30688434del | CA2573136200 | TGFBR2 | c.1447del (p.Cys483ValfsTer5) n.331del n.3043del n.325del c.1522del (p.Cys508ValfsTer5) c.1474del (p.Cys492ValfsTer5) c.1399del (p.Cys467ValfsTer5) c.1342del (p.Cys448ValfsTer5) | ClinVar dbSNP |
| 3 | g.30688434T>A | CA351809292 | TGFBR2 | c.1447T>A (p.Cys483Ser) n.331T>A n.3043T>A n.325T>A c.1522T>A (p.Cys508Ser) c.1474T>A (p.Cys492Ser) c.1399T>A (p.Cys467Ser) c.1342T>A (p.Cys448Ser) | |
| 3 | g.30688434T>C | CA351809293 | TGFBR2 | c.1447T>C (p.Cys483Arg) n.331T>C n.3043T>C n.325T>C c.1522T>C (p.Cys508Arg) c.1474T>C (p.Cys492Arg) c.1399T>C (p.Cys467Arg) c.1342T>C (p.Cys448Arg) | dbSNP |
| 3 | g.30688434T>G | CA351809294 | TGFBR2 | c.1447T>G (p.Cys483Gly) n.331T>G n.3043T>G n.325T>G c.1522T>G (p.Cys508Gly) c.1474T>G (p.Cys492Gly) c.1399T>G (p.Cys467Gly) c.1342T>G (p.Cys448Gly) | dbSNP |
| 3 | g.30688435G>A | CA351809295 | TGFBR2 | c.1448G>A (p.Cys483Tyr) n.332G>A n.3044G>A n.326G>A c.1523G>A (p.Cys508Tyr) c.1475G>A (p.Cys492Tyr) c.1400G>A (p.Cys467Tyr) c.1343G>A (p.Cys448Tyr) | dbSNP |
| 3 | g.30688435G>C | CA351809296 | TGFBR2 | c.1448G>C (p.Cys483Ser) n.332G>C n.3044G>C n.326G>C c.1523G>C (p.Cys508Ser) c.1475G>C (p.Cys492Ser) c.1400G>C (p.Cys467Ser) c.1343G>C (p.Cys448Ser) | dbSNP gnomAD v4 |
| 3 | g.30688435G= | CA1354880340 | TGFBR2 | c.1448G= (p.Cys483=) n.332G= n.3044G= n.326G= c.1523G= (p.Cys508=) c.1475G= (p.Cys492=) c.1400G= (p.Cys467=) c.1343G= (p.Cys448=) | |
| 3 | g.30688435G>T | CA351809297 | TGFBR2 | c.1448G>T (p.Cys483Phe) n.332G>T n.3044G>T n.326G>T c.1523G>T (p.Cys508Phe) c.1475G>T (p.Cys492Phe) c.1400G>T (p.Cys467Phe) c.1343G>T (p.Cys448Phe) | |
| 3 | g.30688436T>A | CA351809298 | TGFBR2 | c.1449T>A (p.Cys483Ter) n.333T>A n.3045T>A n.327T>A c.1524T>A (p.Cys508Ter) c.1476T>A (p.Cys492Ter) c.1401T>A (p.Cys467Ter) c.1344T>A (p.Cys448Ter) | dbSNP gnomAD v4 |
| 3 | g.30688436T>C | CA432917824 | TGFBR2 | c.1449T>C (p.Cys483=) n.333T>C n.3045T>C n.327T>C c.1524T>C (p.Cys508=) c.1476T>C (p.Cys492=) c.1401T>C (p.Cys467=) c.1344T>C (p.Cys448=) | |
| 3 | g.30688436T>G | CA351809299 | TGFBR2 | c.1449T>G (p.Cys483Trp) n.333T>G n.3045T>G n.327T>G c.1524T>G (p.Cys508Trp) c.1476T>G (p.Cys492Trp) c.1401T>G (p.Cys467Trp) c.1344T>G (p.Cys448Trp) | dbSNP |
| 3 | g.30688436dup | CA2586971790 | TGFBR2 | c.1449dup (p.Val484CysfsTer?) n.333dup n.3045dup n.327dup c.1524dup (p.Val509CysfsTer?) c.1476dup (p.Val493CysfsTer?) c.1401dup (p.Val468CysfsTer?) c.1344dup (p.Val449CysfsTer?) | |
| 3 | g.30688438_30688448del | CA645535112 | TGFBR2 | c.1451_1461del (p.Val484GlufsTer28) n.335_345del n.3047_3057del n.329_339del c.1526_1536del (p.Val509GlufsTer28) c.1478_1488del (p.Val493GlufsTer28) c.1403_1413del (p.Val468GlufsTer28) c.1346_1356del (p.Val449GlufsTer28) | COSMIC |
| 3 | g.30688437G>A | CA351809300 | TGFBR2 | c.1450G>A (p.Val484Ile) n.334G>A n.3046G>A n.328G>A c.1525G>A (p.Val509Ile) c.1477G>A (p.Val493Ile) c.1402G>A (p.Val468Ile) c.1345G>A (p.Val449Ile) | gnomAD v4 |
| 3 | g.30688437G>C | CA351809301 | TGFBR2 | c.1450G>C (p.Val484Leu) n.334G>C n.3046G>C n.328G>C c.1525G>C (p.Val509Leu) c.1477G>C (p.Val493Leu) c.1402G>C (p.Val468Leu) c.1345G>C (p.Val449Leu) | dbSNP |
| 3 | g.30688437G>T | CA351809302 | TGFBR2 | c.1450G>T (p.Val484Phe) n.334G>T n.3046G>T n.328G>T c.1525G>T (p.Val509Phe) c.1477G>T (p.Val493Phe) c.1402G>T (p.Val468Phe) c.1345G>T (p.Val449Phe) | |
| 3 | g.30688438T>A | CA351809303 | TGFBR2 | c.1451T>A (p.Val484Asp) n.335T>A n.3047T>A n.329T>A c.1526T>A (p.Val509Asp) c.1478T>A (p.Val493Asp) c.1403T>A (p.Val468Asp) c.1346T>A (p.Val449Asp) | dbSNP |
| 3 | g.30688438T>C | CA351809304 | TGFBR2 | c.1451T>C (p.Val484Ala) n.335T>C n.3047T>C n.329T>C c.1526T>C (p.Val509Ala) c.1478T>C (p.Val493Ala) c.1403T>C (p.Val468Ala) c.1346T>C (p.Val449Ala) | dbSNP |
| 3 | g.30688438T>G | CA351809305 | TGFBR2 | c.1451T>G (p.Val484Gly) n.335T>G n.3047T>G n.329T>G c.1526T>G (p.Val509Gly) c.1478T>G (p.Val493Gly) c.1403T>G (p.Val468Gly) c.1346T>G (p.Val449Gly) | dbSNP |
| 3 | g.30688439C>A | CA432917825 | TGFBR2 | c.1452C>A (p.Val484=) n.336C>A n.3048C>A n.330C>A c.1527C>A (p.Val509=) c.1479C>A (p.Val493=) c.1404C>A (p.Val468=) c.1347C>A (p.Val449=) | dbSNP |
| 3 | g.30688439C= | CA1354880341 | TGFBR2 | c.1452C= (p.Val484=) n.336C= n.3048C= n.330C= c.1527C= (p.Val509=) c.1479C= (p.Val493=) c.1404C= (p.Val468=) c.1347C= (p.Val449=) | |
| 3 | g.30688439C>G | CA432917826 | TGFBR2 | c.1452C>G (p.Val484=) n.336C>G n.3048C>G n.330C>G c.1527C>G (p.Val509=) c.1479C>G (p.Val493=) c.1404C>G (p.Val468=) c.1347C>G (p.Val449=) | ClinVar dbSNP |
| 3 | g.30688439C>T | CA046602 | TGFBR2 | c.1452C>T (p.Val484=) n.336C>T n.3048C>T n.330C>T c.1527C>T (p.Val509=) c.1479C>T (p.Val493=) c.1404C>T (p.Val468=) c.1347C>T (p.Val449=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30688440G>A | CA351809306 | TGFBR2 | c.1453G>A (p.Glu485Lys) n.337G>A n.3049G>A n.331G>A c.1528G>A (p.Glu510Lys) c.1480G>A (p.Glu494Lys) c.1405G>A (p.Glu469Lys) c.1348G>A (p.Glu450Lys) | dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30688440G>C | CA351809307 | TGFBR2 | c.1453G>C (p.Glu485Gln) n.337G>C n.3049G>C n.331G>C c.1528G>C (p.Glu510Gln) c.1480G>C (p.Glu494Gln) c.1405G>C (p.Glu469Gln) c.1348G>C (p.Glu450Gln) | dbSNP |
| 3 | g.30688440G= | CA1354880342 | TGFBR2 | c.1453G= (p.Glu485=) n.337G= n.3049G= n.331G= c.1528G= (p.Glu510=) c.1480G= (p.Glu494=) c.1405G= (p.Glu469=) c.1348G= (p.Glu450=) | |
| 3 | g.30688440G>T | CA351809308 | TGFBR2 | c.1453G>T (p.Glu485Ter) n.337G>T n.3049G>T n.331G>T c.1528G>T (p.Glu510Ter) c.1480G>T (p.Glu494Ter) c.1405G>T (p.Glu469Ter) c.1348G>T (p.Glu450Ter) | |
| 3 | g.30688441A>C | CA351809309 | TGFBR2 | c.1454A>C (p.Glu485Ala) n.338A>C n.3050A>C n.332A>C c.1529A>C (p.Glu510Ala) c.1481A>C (p.Glu494Ala) c.1406A>C (p.Glu469Ala) c.1349A>C (p.Glu450Ala) | |
| 3 | g.30688441A>G | CA351809310 | TGFBR2 | c.1454A>G (p.Glu485Gly) n.338A>G n.3050A>G n.332A>G c.1529A>G (p.Glu510Gly) c.1481A>G (p.Glu494Gly) c.1406A>G (p.Glu469Gly) c.1349A>G (p.Glu450Gly) | |
| 3 | g.30688441A>T | CA351809311 | TGFBR2 | c.1454A>T (p.Glu485Val) n.338A>T n.3050A>T n.332A>T c.1529A>T (p.Glu510Val) c.1481A>T (p.Glu494Val) c.1406A>T (p.Glu469Val) c.1349A>T (p.Glu450Val) | dbSNP COSMIC COSMIC |
| 3 | g.30688442A= | CA1354880343 | TGFBR2 | c.1455A= (p.Glu485=) n.339A= n.3051A= n.333A= c.1530A= (p.Glu510=) c.1482A= (p.Glu494=) c.1407A= (p.Glu469=) c.1350A= (p.Glu450=) | |
| 3 | g.30688442A>C | CA351809312 | TGFBR2 | c.1455A>C (p.Glu485Asp) n.339A>C n.3051A>C n.333A>C c.1530A>C (p.Glu510Asp) c.1482A>C (p.Glu494Asp) c.1407A>C (p.Glu469Asp) c.1350A>C (p.Glu450Asp) | |
| 3 | g.30688442A>G | CA046613 | TGFBR2 | c.1455A>G (p.Glu485=) n.339A>G n.3051A>G n.333A>G c.1530A>G (p.Glu510=) c.1482A>G (p.Glu494=) c.1407A>G (p.Glu469=) c.1350A>G (p.Glu450=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688442A>T | CA351809313 | TGFBR2 | c.1455A>T (p.Glu485Asp) n.339A>T n.3051A>T n.333A>T c.1530A>T (p.Glu510Asp) c.1482A>T (p.Glu494Asp) c.1407A>T (p.Glu469Asp) c.1350A>T (p.Glu450Asp) | dbSNP |
| 3 | g.30688443A>C | CA351809314 | TGFBR2 | c.1456A>C (p.Ser486Arg) n.340A>C n.3052A>C n.334A>C c.1531A>C (p.Ser511Arg) c.1483A>C (p.Ser495Arg) c.1408A>C (p.Ser470Arg) c.1351A>C (p.Ser451Arg) | |
| 3 | g.30688443A>G | CA351809315 | TGFBR2 | c.1456A>G (p.Ser486Gly) n.340A>G n.3052A>G n.334A>G c.1531A>G (p.Ser511Gly) c.1483A>G (p.Ser495Gly) c.1408A>G (p.Ser470Gly) c.1351A>G (p.Ser451Gly) | dbSNP |
| 3 | g.30688443A>T | CA351809316 | TGFBR2 | c.1456A>T (p.Ser486Cys) n.340A>T n.3052A>T n.334A>T c.1531A>T (p.Ser511Cys) c.1483A>T (p.Ser495Cys) c.1408A>T (p.Ser470Cys) c.1351A>T (p.Ser451Cys) | dbSNP |
| 3 | g.30688444G>A | CA351809319 | TGFBR2 | c.1457G>A (p.Ser486Asn) n.341G>A n.3053G>A n.335G>A c.1532G>A (p.Ser511Asn) c.1484G>A (p.Ser495Asn) c.1409G>A (p.Ser470Asn) c.1352G>A (p.Ser451Asn) | dbSNP |
| 3 | g.30688444G>C | CA351809318 | TGFBR2 | c.1457G>C (p.Ser486Thr) n.341G>C n.3053G>C n.335G>C c.1532G>C (p.Ser511Thr) c.1484G>C (p.Ser495Thr) c.1409G>C (p.Ser470Thr) c.1352G>C (p.Ser451Thr) | dbSNP |
| 3 | g.30688444G>T | CA351809317 | TGFBR2 | c.1457G>T (p.Ser486Ile) n.341G>T n.3053G>T n.335G>T c.1532G>T (p.Ser511Ile) c.1484G>T (p.Ser495Ile) c.1409G>T (p.Ser470Ile) c.1352G>T (p.Ser451Ile) | |
| 3 | g.30688445C>A | CA351809320 | TGFBR2 | c.1458C>A (p.Ser486Arg) n.342C>A n.3054C>A n.336C>A c.1533C>A (p.Ser511Arg) c.1485C>A (p.Ser495Arg) c.1410C>A (p.Ser470Arg) c.1353C>A (p.Ser451Arg) | dbSNP |
| 3 | g.30688445C= | CA1354880344 | TGFBR2 | c.1458C= (p.Ser486=) n.342C= n.3054C= n.336C= c.1533C= (p.Ser511=) c.1485C= (p.Ser495=) c.1410C= (p.Ser470=) c.1353C= (p.Ser451=) | |
| 3 | g.30688445C>G | CA351809321 | TGFBR2 | c.1458C>G (p.Ser486Arg) n.342C>G n.3054C>G n.336C>G c.1533C>G (p.Ser511Arg) c.1485C>G (p.Ser495Arg) c.1410C>G (p.Ser470Arg) c.1353C>G (p.Ser451Arg) | dbSNP |
| 3 | g.30688445C>T | CA046632 | TGFBR2 | c.1458C>T (p.Ser486=) n.342C>T n.3054C>T n.336C>T c.1533C>T (p.Ser511=) c.1485C>T (p.Ser495=) c.1410C>T (p.Ser470=) c.1353C>T (p.Ser451=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30688446A= | CA1354880345 | TGFBR2 | c.1459A= (p.Met487=) n.343A= n.3055A= n.337A= c.1534A= (p.Met512=) c.1486A= (p.Met496=) c.1411A= (p.Met471=) c.1354A= (p.Met452=) | |
| 3 | g.30688446A>C | CA71543652 | TGFBR2 | c.1459A>C (p.Met487Leu) n.343A>C n.3055A>C n.337A>C c.1534A>C (p.Met512Leu) c.1486A>C (p.Met496Leu) c.1411A>C (p.Met471Leu) c.1354A>C (p.Met452Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30688446A>G | CA046645 | TGFBR2 | c.1459A>G (p.Met487Val) n.343A>G n.3055A>G n.337A>G c.1534A>G (p.Met512Val) c.1486A>G (p.Met496Val) c.1411A>G (p.Met471Val) c.1354A>G (p.Met452Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688446A>T | CA351809322 | TGFBR2 | c.1459A>T (p.Met487Leu) n.343A>T n.3055A>T n.337A>T c.1534A>T (p.Met512Leu) c.1486A>T (p.Met496Leu) c.1411A>T (p.Met471Leu) c.1354A>T (p.Met452Leu) | dbSNP |
| 3 | g.30688447T>A | CA351809323 | TGFBR2 | c.1460T>A (p.Met487Lys) n.344T>A n.3056T>A n.338T>A c.1535T>A (p.Met512Lys) c.1487T>A (p.Met496Lys) c.1412T>A (p.Met471Lys) c.1355T>A (p.Met452Lys) | dbSNP |
| 3 | g.30688447T>C | CA351809324 | TGFBR2 | c.1460T>C (p.Met487Thr) n.344T>C n.3056T>C n.338T>C c.1535T>C (p.Met512Thr) c.1487T>C (p.Met496Thr) c.1412T>C (p.Met471Thr) c.1355T>C (p.Met452Thr) | dbSNP gnomAD v4 |
| 3 | g.30688447T>G | CA351809325 | TGFBR2 | c.1460T>G (p.Met487Arg) n.344T>G n.3056T>G n.338T>G c.1535T>G (p.Met512Arg) c.1487T>G (p.Met496Arg) c.1412T>G (p.Met471Arg) c.1355T>G (p.Met452Arg) | |
| 3 | g.30688448G>A | CA046659 | TGFBR2 | c.1461G>A (p.Met487Ile) n.345G>A n.3057G>A n.339G>A c.1536G>A (p.Met512Ile) c.1488G>A (p.Met496Ile) c.1413G>A (p.Met471Ile) c.1356G>A (p.Met452Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688448G>C | CA351809326 | TGFBR2 | c.1461G>C (p.Met487Ile) n.345G>C n.3057G>C n.339G>C c.1536G>C (p.Met512Ile) c.1488G>C (p.Met496Ile) c.1413G>C (p.Met471Ile) c.1356G>C (p.Met452Ile) | dbSNP |
| 3 | g.30688448G= | CA1354880346 | TGFBR2 | c.1461G= (p.Met487=) n.345G= n.3057G= n.339G= c.1536G= (p.Met512=) c.1488G= (p.Met496=) c.1413G= (p.Met471=) c.1356G= (p.Met452=) | |
| 3 | g.30688448G>T | CA351809327 | TGFBR2 | c.1461G>T (p.Met487Ile) n.345G>T n.3057G>T n.339G>T c.1536G>T (p.Met512Ile) c.1488G>T (p.Met496Ile) c.1413G>T (p.Met471Ile) c.1356G>T (p.Met452Ile) | |
| 3 | g.30688449A>C | CA351809329 | TGFBR2 | c.1462A>C (p.Lys488Gln) n.346A>C n.3058A>C n.340A>C c.1537A>C (p.Lys513Gln) c.1489A>C (p.Lys497Gln) c.1414A>C (p.Lys472Gln) c.1357A>C (p.Lys453Gln) | |
| 3 | g.30688449A>G | CA351809330 | TGFBR2 | c.1462A>G (p.Lys488Glu) n.346A>G n.3058A>G n.340A>G c.1537A>G (p.Lys513Glu) c.1489A>G (p.Lys497Glu) c.1414A>G (p.Lys472Glu) c.1357A>G (p.Lys453Glu) | dbSNP |
| 3 | g.30688449A>T | CA351809328 | TGFBR2 | c.1462A>T (p.Lys488Ter) n.346A>T n.3058A>T n.340A>T c.1537A>T (p.Lys513Ter) c.1489A>T (p.Lys497Ter) c.1414A>T (p.Lys472Ter) c.1357A>T (p.Lys453Ter) | dbSNP |
| 3 | g.30688450A= | CA1354880347 | TGFBR2 | c.1463A= (p.Lys488=) n.347A= n.3059A= n.341A= c.1538A= (p.Lys513=) c.1490A= (p.Lys497=) c.1415A= (p.Lys472=) c.1358A= (p.Lys453=) | |
| 3 | g.30688450A>C | CA351809331 | TGFBR2 | c.1463A>C (p.Lys488Thr) n.347A>C n.3059A>C n.341A>C c.1538A>C (p.Lys513Thr) c.1490A>C (p.Lys497Thr) c.1415A>C (p.Lys472Thr) c.1358A>C (p.Lys453Thr) | |
| 3 | g.30688450A>G | CA71543680 | TGFBR2 | c.1463A>G (p.Lys488Arg) n.347A>G n.3059A>G n.341A>G c.1538A>G (p.Lys513Arg) c.1490A>G (p.Lys497Arg) c.1415A>G (p.Lys472Arg) c.1358A>G (p.Lys453Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30688450A>T | CA351809332 | TGFBR2 | c.1463A>T (p.Lys488Met) n.347A>T n.3059A>T n.341A>T c.1538A>T (p.Lys513Met) c.1490A>T (p.Lys497Met) c.1415A>T (p.Lys472Met) c.1358A>T (p.Lys453Met) | dbSNP |
| 3 | g.30688451G>A | CA046670 | TGFBR2 | c.1464G>A (p.Lys488=) n.348G>A n.3060G>A n.342G>A c.1539G>A (p.Lys513=) c.1491G>A (p.Lys497=) c.1416G>A (p.Lys472=) c.1359G>A (p.Lys453=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688451G>C | CA351809333 | TGFBR2 | c.1464G>C (p.Lys488Asn) n.348G>C n.3060G>C n.342G>C c.1539G>C (p.Lys513Asn) c.1491G>C (p.Lys497Asn) c.1416G>C (p.Lys472Asn) c.1359G>C (p.Lys453Asn) | dbSNP |
| 3 | g.30688451G= | CA1354880348 | TGFBR2 | c.1464G= (p.Lys488=) n.348G= n.3060G= n.342G= c.1539G= (p.Lys513=) c.1491G= (p.Lys497=) c.1416G= (p.Lys472=) c.1359G= (p.Lys453=) | |
| 3 | g.30688451G>T | CA351809334 | TGFBR2 | c.1464G>T (p.Lys488Asn) n.348G>T n.3060G>T n.342G>T c.1539G>T (p.Lys513Asn) c.1491G>T (p.Lys497Asn) c.1416G>T (p.Lys472Asn) c.1359G>T (p.Lys453Asn) | |
| 3 | g.30688452G>A | CA351809335 | TGFBR2 | c.1465G>A (p.Asp489Asn) n.349G>A n.3061G>A n.343G>A c.1540G>A (p.Asp514Asn) c.1492G>A (p.Asp498Asn) c.1417G>A (p.Asp473Asn) c.1360G>A (p.Asp454Asn) | dbSNP |
| 3 | g.30688452G>C | CA351809337 | TGFBR2 | c.1465G>C (p.Asp489His) n.349G>C n.3061G>C n.343G>C c.1540G>C (p.Asp514His) c.1492G>C (p.Asp498His) c.1417G>C (p.Asp473His) c.1360G>C (p.Asp454His) | dbSNP |
| 3 | g.30688452G>T | CA351809336 | TGFBR2 | c.1465G>T (p.Asp489Tyr) n.349G>T n.3061G>T n.343G>T c.1540G>T (p.Asp514Tyr) c.1492G>T (p.Asp498Tyr) c.1417G>T (p.Asp473Tyr) c.1360G>T (p.Asp454Tyr) | dbSNP |
| 3 | g.30688452_30688455delinsGACA | CA1354880349 | TGFBR2 | c.1465_1468delinsGACA (p.Asp489=) n.349_352delinsGACA n.3061_3064delinsGACA n.343_346delinsGACA c.1540_1543delinsGACA (p.Asp514=) c.1492_1495delinsGACA (p.Asp498=) c.1417_1420delinsGACA (p.Asp473=) c.1360_1363delinsGACA (p.Asp454=) | |
| 3 | g.30688453A>C | CA351809338 | TGFBR2 | c.1466A>C (p.Asp489Ala) n.350A>C n.3062A>C n.344A>C c.1541A>C (p.Asp514Ala) c.1493A>C (p.Asp498Ala) c.1418A>C (p.Asp473Ala) c.1361A>C (p.Asp454Ala) | dbSNP |
| 3 | g.30688453A>G | CA351809339 | TGFBR2 | c.1466A>G (p.Asp489Gly) n.350A>G n.3062A>G n.344A>G c.1541A>G (p.Asp514Gly) c.1493A>G (p.Asp498Gly) c.1418A>G (p.Asp473Gly) c.1361A>G (p.Asp454Gly) | dbSNP |
| 3 | g.30688453A>T | CA351809340 | TGFBR2 | c.1466A>T (p.Asp489Val) n.350A>T n.3062A>T n.344A>T c.1541A>T (p.Asp514Val) c.1493A>T (p.Asp498Val) c.1418A>T (p.Asp473Val) c.1361A>T (p.Asp454Val) | dbSNP |
| 3 | g.30688455_30688457del | CA1354880350 | TGFBR2 | c.1468_1470del (p.Asn490del) n.352_354del n.3064_3066del n.346_348del c.1543_1545del (p.Asn515del) c.1495_1497del (p.Asn499del) c.1420_1422del (p.Asn474del) c.1363_1365del (p.Asn455del) | dbSNP |
| 3 | g.30688454C>A | CA351809341 | TGFBR2 | c.1467C>A (p.Asp489Glu) n.351C>A n.3063C>A n.345C>A c.1542C>A (p.Asp514Glu) c.1494C>A (p.Asp498Glu) c.1419C>A (p.Asp473Glu) c.1362C>A (p.Asp454Glu) | dbSNP gnomAD v4 |
| 3 | g.30688454C>G | CA351809342 | TGFBR2 | c.1467C>G (p.Asp489Glu) n.351C>G n.3063C>G n.345C>G c.1542C>G (p.Asp514Glu) c.1494C>G (p.Asp498Glu) c.1419C>G (p.Asp473Glu) c.1362C>G (p.Asp454Glu) | dbSNP |
| 3 | g.30688454C>T | CA432917827 | TGFBR2 | c.1467C>T (p.Asp489=) n.351C>T n.3063C>T n.345C>T c.1542C>T (p.Asp514=) c.1494C>T (p.Asp498=) c.1419C>T (p.Asp473=) c.1362C>T (p.Asp454=) | dbSNP |
| 3 | g.30688455A>C | CA351809344 | TGFBR2 | c.1468A>C (p.Asn490His) n.352A>C n.3064A>C n.346A>C c.1543A>C (p.Asn515His) c.1495A>C (p.Asn499His) c.1420A>C (p.Asn474His) c.1363A>C (p.Asn455His) | |
| 3 | g.30688455A>G | CA351809345 | TGFBR2 | c.1468A>G (p.Asn490Asp) n.352A>G n.3064A>G n.346A>G c.1543A>G (p.Asn515Asp) c.1495A>G (p.Asn499Asp) c.1420A>G (p.Asn474Asp) c.1363A>G (p.Asn455Asp) | |
| 3 | g.30688455A>T | CA351809343 | TGFBR2 | c.1468A>T (p.Asn490Tyr) n.352A>T n.3064A>T n.346A>T c.1543A>T (p.Asn515Tyr) c.1495A>T (p.Asn499Tyr) c.1420A>T (p.Asn474Tyr) c.1363A>T (p.Asn455Tyr) | dbSNP |
| 3 | g.30688456A= | CA1354880351 | TGFBR2 | c.1469A= (p.Asn490=) n.353A= n.3065A= n.347A= c.1544A= (p.Asn515=) c.1496A= (p.Asn499=) c.1421A= (p.Asn474=) c.1364A= (p.Asn455=) | |
| 3 | g.30688456A>C | CA351809346 | TGFBR2 | c.1469A>C (p.Asn490Thr) n.353A>C n.3065A>C n.347A>C c.1544A>C (p.Asn515Thr) c.1496A>C (p.Asn499Thr) c.1421A>C (p.Asn474Thr) c.1364A>C (p.Asn455Thr) | dbSNP |
| 3 | g.30688456A>G | CA351809348 | TGFBR2 | c.1469A>G (p.Asn490Ser) n.353A>G n.3065A>G n.347A>G c.1544A>G (p.Asn515Ser) c.1496A>G (p.Asn499Ser) c.1421A>G (p.Asn474Ser) c.1364A>G (p.Asn455Ser) | ClinVar dbSNP COSMIC |
| 3 | g.30688456A>T | CA351809347 | TGFBR2 | c.1469A>T (p.Asn490Ile) n.353A>T n.3065A>T n.347A>T c.1544A>T (p.Asn515Ile) c.1496A>T (p.Asn499Ile) c.1421A>T (p.Asn474Ile) c.1364A>T (p.Asn455Ile) | dbSNP |
| 3 | g.30688457C>A | CA351809349 | TGFBR2 | c.1470C>A (p.Asn490Lys) n.354C>A n.3066C>A n.348C>A c.1545C>A (p.Asn515Lys) c.1497C>A (p.Asn499Lys) c.1422C>A (p.Asn474Lys) c.1365C>A (p.Asn455Lys) | |
| 3 | g.30688457C= | CA1354880352 | TGFBR2 | c.1470C= (p.Asn490=) n.354C= n.3066C= n.348C= c.1545C= (p.Asn515=) c.1497C= (p.Asn499=) c.1422C= (p.Asn474=) c.1365C= (p.Asn455=) | |
| 3 | g.30688457C>G | CA351809350 | TGFBR2 | c.1470C>G (p.Asn490Lys) n.354C>G n.3066C>G n.348C>G c.1545C>G (p.Asn515Lys) c.1497C>G (p.Asn499Lys) c.1422C>G (p.Asn474Lys) c.1365C>G (p.Asn455Lys) | dbSNP |
| 3 | g.30688457C>T | CA046683 | TGFBR2 | c.1470C>T (p.Asn490=) n.354C>T n.3066C>T n.348C>T c.1545C>T (p.Asn515=) c.1497C>T (p.Asn499=) c.1422C>T (p.Asn474=) c.1365C>T (p.Asn455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30688457_30688462delinsCGTGTT | CA1354880354 | TGFBR2 | c.1470_1475delinsCGTGTT (p.Asn490=) n.354_359delinsCGTGTT n.3066_3071delinsCGTGTT n.348_353delinsCGTGTT c.1545_1550delinsCGTGTT (p.Asn515=) c.1497_1502delinsCGTGTT (p.Asn499=) c.1422_1427delinsCGTGTT (p.Asn474=) c.1365_1370delinsCGTGTT (p.Asn455=) | |
| 3 | g.30688457_30688469delinsCGTGTTGAGAGAT | CA1354880353 | TGFBR2 | c.1470_1482delinsCGTGTTGAGAGAT (p.Asn490=) n.354_366delinsCGTGTTGAGAGAT n.3066_3078delinsCGTGTTGAGAGAT n.348_360delinsCGTGTTGAGAGAT c.1545_1557delinsCGTGTTGAGAGAT (p.Asn515=) c.1497_1509delinsCGTGTTGAGAGAT (p.Asn499=) c.1422_1434delinsCGTGTTGAGAGAT (p.Asn474=) c.1365_1377delinsCGTGTTGAGAGAT (p.Asn455=) | |
| 3 | g.30688458G>A | CA351809351 | TGFBR2 | c.1471G>A (p.Val491Met) n.355G>A n.3067G>A n.349G>A c.1546G>A (p.Val516Met) c.1498G>A (p.Val500Met) c.1423G>A (p.Val475Met) c.1366G>A (p.Val456Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30688458G>C | CA046695 | TGFBR2 | c.1471G>C (p.Val491Leu) n.355G>C n.3067G>C n.349G>C c.1546G>C (p.Val516Leu) c.1498G>C (p.Val500Leu) c.1423G>C (p.Val475Leu) c.1366G>C (p.Val456Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688458G= | CA1354880355 | TGFBR2 | c.1471G= (p.Val491=) n.355G= n.3067G= n.349G= c.1546G= (p.Val516=) c.1498G= (p.Val500=) c.1423G= (p.Val475=) c.1366G= (p.Val456=) | |
| 3 | g.30688458G>T | CA351809352 | TGFBR2 | c.1471G>T (p.Val491Leu) n.355G>T n.3067G>T n.349G>T c.1546G>T (p.Val516Leu) c.1498G>T (p.Val500Leu) c.1423G>T (p.Val475Leu) c.1366G>T (p.Val456Leu) | dbSNP gnomAD v4 |
| 3 | g.30688459_30688463del | CA1354880356 | TGFBR2 | c.1472_1476del (p.Val491GlufsTer23) n.356_360del n.3068_3072del n.350_354del c.1547_1551del (p.Val516GlufsTer23) c.1499_1503del (p.Val500GlufsTer23) c.1424_1428del (p.Val475GlufsTer23) c.1367_1371del (p.Val456GlufsTer23) | dbSNP |
| 3 | g.30688458_30688469del | CA020683 | TGFBR2 | c.1471_1482del (p.Val491_Asp494del) n.355_366del n.3067_3078del n.349_360del c.1546_1557del (p.Val516_Asp519del) c.1498_1509del (p.Val500_Asp503del) c.1423_1434del (p.Val475_Asp478del) c.1366_1377del (p.Val456_Asp459del) | dbSNP |
| 3 | g.30688459T>A | CA351809353 | TGFBR2 | c.1472T>A (p.Val491Glu) n.356T>A n.3068T>A n.350T>A c.1547T>A (p.Val516Glu) c.1499T>A (p.Val500Glu) c.1424T>A (p.Val475Glu) c.1367T>A (p.Val456Glu) | |
| 3 | g.30688459T>C | CA351809354 | TGFBR2 | c.1472T>C (p.Val491Ala) n.356T>C n.3068T>C n.350T>C c.1547T>C (p.Val516Ala) c.1499T>C (p.Val500Ala) c.1424T>C (p.Val475Ala) c.1367T>C (p.Val456Ala) | |
| 3 | g.30688459T>G | CA351809355 | TGFBR2 | c.1472T>G (p.Val491Gly) n.356T>G n.3068T>G n.350T>G c.1547T>G (p.Val516Gly) c.1499T>G (p.Val500Gly) c.1424T>G (p.Val475Gly) c.1367T>G (p.Val456Gly) | |
| 3 | g.30688460G>A | CA71543703 | TGFBR2 | c.1473G>A (p.Val491=) n.357G>A n.3069G>A n.351G>A c.1548G>A (p.Val516=) c.1500G>A (p.Val500=) c.1425G>A (p.Val475=) c.1368G>A (p.Val456=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30688460G>C | CA432917828 | TGFBR2 | c.1473G>C (p.Val491=) n.357G>C n.3069G>C n.351G>C c.1548G>C (p.Val516=) c.1500G>C (p.Val500=) c.1425G>C (p.Val475=) c.1368G>C (p.Val456=) | dbSNP |
| 3 | g.30688460G= | CA1354880357 | TGFBR2 | c.1473G= (p.Val491=) n.357G= n.3069G= n.351G= c.1548G= (p.Val516=) c.1500G= (p.Val500=) c.1425G= (p.Val475=) c.1368G= (p.Val456=) | |
| 3 | g.30688460G>T | CA432917829 | TGFBR2 | c.1473G>T (p.Val491=) n.357G>T n.3069G>T n.351G>T c.1548G>T (p.Val516=) c.1500G>T (p.Val500=) c.1425G>T (p.Val475=) c.1368G>T (p.Val456=) | gnomAD v4 |
| 3 | g.30688461T>A | CA351809356 | TGFBR2 | c.1474T>A (p.Leu492Met) n.358T>A n.3070T>A n.352T>A c.1549T>A (p.Leu517Met) c.1501T>A (p.Leu501Met) c.1426T>A (p.Leu476Met) c.1369T>A (p.Leu457Met) | dbSNP |
| 3 | g.30688461T>C | CA432917830 | TGFBR2 | c.1474T>C (p.Leu492=) n.358T>C n.3070T>C n.352T>C c.1549T>C (p.Leu517=) c.1501T>C (p.Leu501=) c.1426T>C (p.Leu476=) c.1369T>C (p.Leu457=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30688461T>G | CA351809357 | TGFBR2 | c.1474T>G (p.Leu492Val) n.358T>G n.3070T>G n.352T>G c.1549T>G (p.Leu517Val) c.1501T>G (p.Leu501Val) c.1426T>G (p.Leu476Val) c.1369T>G (p.Leu457Val) | dbSNP |
| 3 | g.30688462T>A | CA351809360 | TGFBR2 | c.1475T>A (p.Leu492Ter) n.359T>A n.3071T>A n.353T>A c.1550T>A (p.Leu517Ter) c.1502T>A (p.Leu501Ter) c.1427T>A (p.Leu476Ter) c.1370T>A (p.Leu457Ter) | |
| 3 | g.30688462T>C | CA351809358 | TGFBR2 | c.1475T>C (p.Leu492Ser) n.359T>C n.3071T>C n.353T>C c.1550T>C (p.Leu517Ser) c.1502T>C (p.Leu501Ser) c.1427T>C (p.Leu476Ser) c.1370T>C (p.Leu457Ser) | |
| 3 | g.30688462T>G | CA351809359 | TGFBR2 | c.1475T>G (p.Leu492Trp) n.359T>G n.3071T>G n.353T>G c.1550T>G (p.Leu517Trp) c.1502T>G (p.Leu501Trp) c.1427T>G (p.Leu476Trp) c.1370T>G (p.Leu457Trp) | |
| 3 | g.30688462T= | CA1354880358 | TGFBR2 | c.1475T= (p.Leu492=) n.359T= n.3071T= n.353T= c.1550T= (p.Leu517=) c.1502T= (p.Leu501=) c.1427T= (p.Leu476=) c.1370T= (p.Leu457=) | |
| 3 | g.30688462_30688463insCA | CA1354880359 | TGFBR2 | c.1475_1476insCA (p.Leu492PhefsTer27) n.359_360insCA n.3071_3072insCA n.353_354insCA c.1550_1551insCA (p.Leu517PhefsTer27) c.1502_1503insCA (p.Leu501PhefsTer27) c.1427_1428insCA (p.Leu476PhefsTer27) c.1370_1371insCA (p.Leu457PhefsTer27) | dbSNP |
| 3 | g.30688463G>A | CA71543715 | TGFBR2 | c.1476G>A (p.Leu492=) n.360G>A n.3072G>A n.354G>A c.1551G>A (p.Leu517=) c.1503G>A (p.Leu501=) c.1428G>A (p.Leu476=) c.1371G>A (p.Leu457=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30688463G>C | CA351809361 | TGFBR2 | c.1476G>C (p.Leu492Phe) n.360G>C n.3072G>C n.354G>C c.1551G>C (p.Leu517Phe) c.1503G>C (p.Leu501Phe) c.1428G>C (p.Leu476Phe) c.1371G>C (p.Leu457Phe) | dbSNP |
| 3 | g.30688463G= | CA1354880360 | TGFBR2 | c.1476G= (p.Leu492=) n.360G= n.3072G= n.354G= c.1551G= (p.Leu517=) c.1503G= (p.Leu501=) c.1428G= (p.Leu476=) c.1371G= (p.Leu457=) | |
| 3 | g.30688463G>T | CA351809362 | TGFBR2 | c.1476G>T (p.Leu492Phe) n.360G>T n.3072G>T n.354G>T c.1551G>T (p.Leu517Phe) c.1503G>T (p.Leu501Phe) c.1428G>T (p.Leu476Phe) c.1371G>T (p.Leu457Phe) | COSMIC COSMIC |
| 3 | g.30688464A>C | CA432917831 | TGFBR2 | c.1477A>C (p.Arg493=) n.361A>C n.3073A>C n.355A>C c.1552A>C (p.Arg518=) c.1504A>C (p.Arg502=) c.1429A>C (p.Arg477=) c.1372A>C (p.Arg458=) | |
| 3 | g.30688464A>G | CA351809363 | TGFBR2 | c.1477A>G (p.Arg493Gly) n.361A>G n.3073A>G n.355A>G c.1552A>G (p.Arg518Gly) c.1504A>G (p.Arg502Gly) c.1429A>G (p.Arg477Gly) c.1372A>G (p.Arg458Gly) | dbSNP |
| 3 | g.30688464A>T | CA351809364 | TGFBR2 | c.1477A>T (p.Arg493Ter) n.361A>T n.3073A>T n.355A>T c.1552A>T (p.Arg518Ter) c.1504A>T (p.Arg502Ter) c.1429A>T (p.Arg477Ter) c.1372A>T (p.Arg458Ter) | dbSNP |
| 3 | g.30688465G>A | CA351809365 | TGFBR2 | c.1478G>A (p.Arg493Lys) n.362G>A n.3074G>A n.356G>A c.1553G>A (p.Arg518Lys) c.1505G>A (p.Arg502Lys) c.1430G>A (p.Arg477Lys) c.1373G>A (p.Arg458Lys) | dbSNP |
| 3 | g.30688465G>C | CA351809366 | TGFBR2 | c.1478G>C (p.Arg493Thr) n.362G>C n.3074G>C n.356G>C c.1553G>C (p.Arg518Thr) c.1505G>C (p.Arg502Thr) c.1430G>C (p.Arg477Thr) c.1373G>C (p.Arg458Thr) | dbSNP |
| 3 | g.30688465G= | CA1354880361 | TGFBR2 | c.1478G= (p.Arg493=) n.362G= n.3074G= n.356G= c.1553G= (p.Arg518=) c.1505G= (p.Arg502=) c.1430G= (p.Arg477=) c.1373G= (p.Arg458=) | |
| 3 | g.30688465G>T | CA351809367 | TGFBR2 | c.1478G>T (p.Arg493Ile) n.362G>T n.3074G>T n.356G>T c.1553G>T (p.Arg518Ile) c.1505G>T (p.Arg502Ile) c.1430G>T (p.Arg477Ile) c.1373G>T (p.Arg458Ile) | |
| 3 | g.30688466A>C | CA351809368 | TGFBR2 | c.1479A>C (p.Arg493Ser) n.363A>C n.3075A>C n.357A>C c.1554A>C (p.Arg518Ser) c.1506A>C (p.Arg502Ser) c.1431A>C (p.Arg477Ser) c.1374A>C (p.Arg458Ser) | |
| 3 | g.30688466A>G | CA432917832 | TGFBR2 | c.1479A>G (p.Arg493=) n.363A>G n.3075A>G n.357A>G c.1554A>G (p.Arg518=) c.1506A>G (p.Arg502=) c.1431A>G (p.Arg477=) c.1374A>G (p.Arg458=) | dbSNP |
| 3 | g.30688466A>T | CA351809369 | TGFBR2 | c.1479A>T (p.Arg493Ser) n.363A>T n.3075A>T n.357A>T c.1554A>T (p.Arg518Ser) c.1506A>T (p.Arg502Ser) c.1431A>T (p.Arg477Ser) c.1374A>T (p.Arg458Ser) | dbSNP |
| 3 | g.30688467G>A | CA351809370 | TGFBR2 | c.1480G>A (p.Asp494Asn) n.364G>A n.3076G>A n.358G>A c.1555G>A (p.Asp519Asn) c.1507G>A (p.Asp503Asn) c.1432G>A (p.Asp478Asn) c.1375G>A (p.Asp459Asn) | gnomAD v4 |
| 3 | g.30688467G>C | CA351809371 | TGFBR2 | c.1480G>C (p.Asp494His) n.364G>C n.3076G>C n.358G>C c.1555G>C (p.Asp519His) c.1507G>C (p.Asp503His) c.1432G>C (p.Asp478His) c.1375G>C (p.Asp459His) | dbSNP |
| 3 | g.30688467G>T | CA351809372 | TGFBR2 | c.1480G>T (p.Asp494Tyr) n.364G>T n.3076G>T n.358G>T c.1555G>T (p.Asp519Tyr) c.1507G>T (p.Asp503Tyr) c.1432G>T (p.Asp478Tyr) c.1375G>T (p.Asp459Tyr) | |
| 3 | g.30688468del | CA432917833 | TGFBR2 | c.1481del (p.Asp494ValfsTer24) n.365del n.3077del n.359del c.1556del (p.Asp519ValfsTer24) c.1508del (p.Asp503ValfsTer24) c.1433del (p.Asp478ValfsTer24) c.1376del (p.Asp459ValfsTer24) | COSMIC |
| 3 | g.30688468A>C | CA351809373 | TGFBR2 | c.1481A>C (p.Asp494Ala) n.365A>C n.3077A>C n.359A>C c.1556A>C (p.Asp519Ala) c.1508A>C (p.Asp503Ala) c.1433A>C (p.Asp478Ala) c.1376A>C (p.Asp459Ala) | |
| 3 | g.30688468A>G | CA351809375 | TGFBR2 | c.1481A>G (p.Asp494Gly) n.365A>G n.3077A>G n.359A>G c.1556A>G (p.Asp519Gly) c.1508A>G (p.Asp503Gly) c.1433A>G (p.Asp478Gly) c.1376A>G (p.Asp459Gly) | dbSNP |
| 3 | g.30688468A>T | CA351809374 | TGFBR2 | c.1481A>T (p.Asp494Val) n.365A>T n.3077A>T n.359A>T c.1556A>T (p.Asp519Val) c.1508A>T (p.Asp503Val) c.1433A>T (p.Asp478Val) c.1376A>T (p.Asp459Val) | dbSNP |
| 3 | g.30688469T>A | CA351809376 | TGFBR2 | c.1482T>A (p.Asp494Glu) n.366T>A n.3078T>A n.360T>A c.1557T>A (p.Asp519Glu) c.1509T>A (p.Asp503Glu) c.1434T>A (p.Asp478Glu) c.1377T>A (p.Asp459Glu) | dbSNP |
| 3 | g.30688469T>C | CA046708 | TGFBR2 | c.1482T>C (p.Asp494=) n.366T>C n.3078T>C n.360T>C c.1557T>C (p.Asp519=) c.1509T>C (p.Asp503=) c.1434T>C (p.Asp478=) c.1377T>C (p.Asp459=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30688469T>G | CA351809377 | TGFBR2 | c.1482T>G (p.Asp494Glu) n.366T>G n.3078T>G n.360T>G c.1557T>G (p.Asp519Glu) c.1509T>G (p.Asp503Glu) c.1434T>G (p.Asp478Glu) c.1377T>G (p.Asp459Glu) | dbSNP |
| 3 | g.30688469T= | CA1354880362 | TGFBR2 | c.1482T= (p.Asp494=) n.366T= n.3078T= n.360T= c.1557T= (p.Asp519=) c.1509T= (p.Asp503=) c.1434T= (p.Asp478=) c.1377T= (p.Asp459=) | |
| 3 | g.30688470del | CA645535113 | TGFBR2 | c.1483del (p.Arg495GlufsTer23) n.367del n.3079del n.361del c.1558del (p.Arg520GlufsTer23) c.1510del (p.Arg504GlufsTer23) c.1435del (p.Arg479GlufsTer23) c.1378del (p.Arg460GlufsTer23) | COSMIC COSMIC |
| 3 | g.30688470C>A | CA432917834 | TGFBR2 | c.1483C>A (p.Arg495=) n.367C>A n.3079C>A n.361C>A c.1558C>A (p.Arg520=) c.1510C>A (p.Arg504=) c.1435C>A (p.Arg479=) c.1378C>A (p.Arg460=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30688470C= | CA1354880363 | TGFBR2 | c.1483C= (p.Arg495=) n.367C= n.3079C= n.361C= c.1558C= (p.Arg520=) c.1510C= (p.Arg504=) c.1435C= (p.Arg479=) c.1378C= (p.Arg460=) | |
| 3 | g.30688470C>G | CA351809378 | TGFBR2 | c.1483C>G (p.Arg495Gly) n.367C>G n.3079C>G n.361C>G c.1558C>G (p.Arg520Gly) c.1510C>G (p.Arg504Gly) c.1435C>G (p.Arg479Gly) c.1378C>G (p.Arg460Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30688470C>T | CA020690 | TGFBR2 | c.1483C>T (p.Arg495Ter) n.367C>T n.3079C>T n.361C>T c.1558C>T (p.Arg520Ter) c.1510C>T (p.Arg504Ter) c.1435C>T (p.Arg479Ter) c.1378C>T (p.Arg460Ter) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30688471G>A | CA351809379 | TGFBR2 | c.1484G>A (p.Arg495Gln) n.368G>A n.3080G>A n.362G>A c.1559G>A (p.Arg520Gln) c.1511G>A (p.Arg504Gln) c.1436G>A (p.Arg479Gln) c.1379G>A (p.Arg460Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30688471G>C | CA351809380 | TGFBR2 | c.1484G>C (p.Arg495Pro) n.368G>C n.3080G>C n.362G>C c.1559G>C (p.Arg520Pro) c.1511G>C (p.Arg504Pro) c.1436G>C (p.Arg479Pro) c.1379G>C (p.Arg460Pro) | dbSNP COSMIC |
| 3 | g.30688471G= | CA1354880364 | TGFBR2 | c.1484G= (p.Arg495=) n.368G= n.3080G= n.362G= c.1559G= (p.Arg520=) c.1511G= (p.Arg504=) c.1436G= (p.Arg479=) c.1379G= (p.Arg460=) | |
| 3 | g.30688471G>T | CA351809381 | TGFBR2 | c.1484G>T (p.Arg495Leu) n.368G>T n.3080G>T n.362G>T c.1559G>T (p.Arg520Leu) c.1511G>T (p.Arg504Leu) c.1436G>T (p.Arg479Leu) c.1379G>T (p.Arg460Leu) | dbSNP |
| 3 | g.30688472A>C | CA432917835 | TGFBR2 | c.1485A>C (p.Arg495=) n.369A>C n.3081A>C n.363A>C c.1560A>C (p.Arg520=) c.1512A>C (p.Arg504=) c.1437A>C (p.Arg479=) c.1380A>C (p.Arg460=) | |
| 3 | g.30688472A>G | CA432917836 | TGFBR2 | c.1485A>G (p.Arg495=) n.369A>G n.3081A>G n.363A>G c.1560A>G (p.Arg520=) c.1512A>G (p.Arg504=) c.1437A>G (p.Arg479=) c.1380A>G (p.Arg460=) | |
| 3 | g.30688472A>T | CA432917837 | TGFBR2 | c.1485A>T (p.Arg495=) n.369A>T n.3081A>T n.363A>T c.1560A>T (p.Arg520=) c.1512A>T (p.Arg504=) c.1437A>T (p.Arg479=) c.1380A>T (p.Arg460=) | dbSNP |
| 3 | g.30688473G>A | CA351809382 | TGFBR2 | c.1486G>A (p.Gly496Arg) n.370G>A n.3082G>A n.364G>A c.1561G>A (p.Gly521Arg) c.1513G>A (p.Gly505Arg) c.1438G>A (p.Gly480Arg) c.1381G>A (p.Gly461Arg) | dbSNP gnomAD v4 |
| 3 | g.30688473G>C | CA351809383 | TGFBR2 | c.1486G>C (p.Gly496Arg) n.370G>C n.3082G>C n.364G>C c.1561G>C (p.Gly521Arg) c.1513G>C (p.Gly505Arg) c.1438G>C (p.Gly480Arg) c.1381G>C (p.Gly461Arg) | dbSNP |
| 3 | g.30688473G>T | CA351809384 | TGFBR2 | c.1486G>T (p.Gly496Trp) n.370G>T n.3082G>T n.364G>T c.1561G>T (p.Gly521Trp) c.1513G>T (p.Gly505Trp) c.1438G>T (p.Gly480Trp) c.1381G>T (p.Gly461Trp) | |
| 3 | g.30688474G>A | CA351809387 | TGFBR2 | c.1487G>A (p.Gly496Glu) n.371G>A n.3083G>A n.365G>A c.1562G>A (p.Gly521Glu) c.1514G>A (p.Gly505Glu) c.1439G>A (p.Gly480Glu) c.1382G>A (p.Gly461Glu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30688474G>C | CA351809385 | TGFBR2 | c.1487G>C (p.Gly496Ala) n.371G>C n.3083G>C n.365G>C c.1562G>C (p.Gly521Ala) c.1514G>C (p.Gly505Ala) c.1439G>C (p.Gly480Ala) c.1382G>C (p.Gly461Ala) | dbSNP |
| 3 | g.30688474G>T | CA351809386 | TGFBR2 | c.1487G>T (p.Gly496Val) n.371G>T n.3083G>T n.365G>T c.1562G>T (p.Gly521Val) c.1514G>T (p.Gly505Val) c.1439G>T (p.Gly480Val) c.1382G>T (p.Gly461Val) | dbSNP |
| 3 | g.30688475G>A | CA432917838 | TGFBR2 | c.1488G>A (p.Gly496=) n.372G>A n.3084G>A n.366G>A c.1563G>A (p.Gly521=) c.1515G>A (p.Gly505=) c.1440G>A (p.Gly480=) c.1383G>A (p.Gly461=) | dbSNP gnomAD v4 |
| 3 | g.30688475G>C | CA432917840 | TGFBR2 | c.1488G>C (p.Gly496=) n.372G>C n.3084G>C n.366G>C c.1563G>C (p.Gly521=) c.1515G>C (p.Gly505=) c.1440G>C (p.Gly480=) c.1383G>C (p.Gly461=) | dbSNP |
| 3 | g.30688475G>T | CA432917839 | TGFBR2 | c.1488G>T (p.Gly496=) n.372G>T n.3084G>T n.366G>T c.1563G>T (p.Gly521=) c.1515G>T (p.Gly505=) c.1440G>T (p.Gly480=) c.1383G>T (p.Gly461=) | dbSNP |
| 3 | g.30688476C>A | CA432917841 | TGFBR2 | c.1489C>A (p.Arg497=) n.373C>A n.3085C>A n.367C>A c.1564C>A (p.Arg522=) c.1516C>A (p.Arg506=) c.1441C>A (p.Arg481=) c.1384C>A (p.Arg462=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30688476C= | CA1354880365 | TGFBR2 | c.1489C= (p.Arg497=) n.373C= n.3085C= n.367C= c.1564C= (p.Arg522=) c.1516C= (p.Arg506=) c.1441C= (p.Arg481=) c.1384C= (p.Arg462=) | |
| 3 | g.30688476C>G | CA351809388 | TGFBR2 | c.1489C>G (p.Arg497Gly) n.373C>G n.3085C>G n.367C>G c.1564C>G (p.Arg522Gly) c.1516C>G (p.Arg506Gly) c.1441C>G (p.Arg481Gly) c.1384C>G (p.Arg462Gly) | dbSNP |
| 3 | g.30688476C>T | CA323609 | TGFBR2 | c.1489C>T (p.Arg497Ter) n.373C>T n.3085C>T n.367C>T c.1564C>T (p.Arg522Ter) c.1516C>T (p.Arg506Ter) c.1441C>T (p.Arg481Ter) c.1384C>T (p.Arg462Ter) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30688477G>A | CA046720 | TGFBR2 | c.1490G>A (p.Arg497Gln) n.374G>A n.3086G>A n.368G>A c.1565G>A (p.Arg522Gln) c.1517G>A (p.Arg506Gln) c.1442G>A (p.Arg481Gln) c.1385G>A (p.Arg462Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688477G>C | CA351809389 | TGFBR2 | c.1490G>C (p.Arg497Pro) n.374G>C n.3086G>C n.368G>C c.1565G>C (p.Arg522Pro) c.1517G>C (p.Arg506Pro) c.1442G>C (p.Arg481Pro) c.1385G>C (p.Arg462Pro) | dbSNP |
| 3 | g.30688477G= | CA1354880366 | TGFBR2 | c.1490G= (p.Arg497=) n.374G= n.3086G= n.368G= c.1565G= (p.Arg522=) c.1517G= (p.Arg506=) c.1442G= (p.Arg481=) c.1385G= (p.Arg462=) | |
| 3 | g.30688477G>T | CA351809390 | TGFBR2 | c.1490G>T (p.Arg497Leu) n.374G>T n.3086G>T n.368G>T c.1565G>T (p.Arg522Leu) c.1517G>T (p.Arg506Leu) c.1442G>T (p.Arg481Leu) c.1385G>T (p.Arg462Leu) | gnomAD v4 |
| 3 | g.30688478A>C | CA432917842 | TGFBR2 | c.1491A>C (p.Arg497=) n.375A>C n.3087A>C n.369A>C c.1566A>C (p.Arg522=) c.1518A>C (p.Arg506=) c.1443A>C (p.Arg481=) c.1386A>C (p.Arg462=) | |
| 3 | g.30688478A>G | CA432917843 | TGFBR2 | c.1491A>G (p.Arg497=) n.375A>G n.3087A>G n.369A>G c.1566A>G (p.Arg522=) c.1518A>G (p.Arg506=) c.1443A>G (p.Arg481=) c.1386A>G (p.Arg462=) | |
| 3 | g.30688478A>T | CA432917844 | TGFBR2 | c.1491A>T (p.Arg497=) n.375A>T n.3087A>T n.369A>T c.1566A>T (p.Arg522=) c.1518A>T (p.Arg506=) c.1443A>T (p.Arg481=) c.1386A>T (p.Arg462=) | |
| 3 | g.30688479C>A | CA351809391 | TGFBR2 | c.1492C>A (p.Pro498Thr) n.376C>A n.3088C>A n.370C>A c.1567C>A (p.Pro523Thr) c.1519C>A (p.Pro507Thr) c.1444C>A (p.Pro482Thr) c.1387C>A (p.Pro463Thr) | dbSNP |
| 3 | g.30688479C= | CA1354880367 | TGFBR2 | c.1492C= (p.Pro498=) n.376C= n.3088C= n.370C= c.1567C= (p.Pro523=) c.1519C= (p.Pro507=) c.1444C= (p.Pro482=) c.1387C= (p.Pro463=) | |
| 3 | g.30688479C>G | CA351809392 | TGFBR2 | c.1492C>G (p.Pro498Ala) n.376C>G n.3088C>G n.370C>G c.1567C>G (p.Pro523Ala) c.1519C>G (p.Pro507Ala) c.1444C>G (p.Pro482Ala) c.1387C>G (p.Pro463Ala) | ClinVar dbSNP |
| 3 | g.30688479C>T | CA351809393 | TGFBR2 | c.1492C>T (p.Pro498Ser) n.376C>T n.3088C>T n.370C>T c.1567C>T (p.Pro523Ser) c.1519C>T (p.Pro507Ser) c.1444C>T (p.Pro482Ser) c.1387C>T (p.Pro463Ser) | ClinVar dbSNP |
| 3 | g.30688480C>A | CA351809394 | TGFBR2 | c.1493C>A (p.Pro498Gln) n.377C>A n.3089C>A n.371C>A c.1568C>A (p.Pro523Gln) c.1520C>A (p.Pro507Gln) c.1445C>A (p.Pro482Gln) c.1388C>A (p.Pro463Gln) | ClinVar |
| 3 | g.30688480C= | CA1354880368 | TGFBR2 | c.1493C= (p.Pro498=) n.377C= n.3089C= n.371C= c.1568C= (p.Pro523=) c.1520C= (p.Pro507=) c.1445C= (p.Pro482=) c.1388C= (p.Pro463=) | |
| 3 | g.30688480C>G | CA351809395 | TGFBR2 | c.1493C>G (p.Pro498Arg) n.377C>G n.3089C>G n.371C>G c.1568C>G (p.Pro523Arg) c.1520C>G (p.Pro507Arg) c.1445C>G (p.Pro482Arg) c.1388C>G (p.Pro463Arg) | ClinVar dbSNP |
| 3 | g.30688480C>T | CA351809396 | TGFBR2 | c.1493C>T (p.Pro498Leu) n.377C>T n.3089C>T n.371C>T c.1568C>T (p.Pro523Leu) c.1520C>T (p.Pro507Leu) c.1445C>T (p.Pro482Leu) c.1388C>T (p.Pro463Leu) | dbSNP |
| 3 | g.30688481A>C | CA432917845 | TGFBR2 | c.1494A>C (p.Pro498=) n.378A>C n.3090A>C n.372A>C c.1569A>C (p.Pro523=) c.1521A>C (p.Pro507=) c.1446A>C (p.Pro482=) c.1389A>C (p.Pro463=) | |
| 3 | g.30688481A>G | CA432917847 | TGFBR2 | c.1494A>G (p.Pro498=) n.378A>G n.3090A>G n.372A>G c.1569A>G (p.Pro523=) c.1521A>G (p.Pro507=) c.1446A>G (p.Pro482=) c.1389A>G (p.Pro463=) | |
| 3 | g.30688481A>T | CA432917846 | TGFBR2 | c.1494A>T (p.Pro498=) n.378A>T n.3090A>T n.372A>T c.1569A>T (p.Pro523=) c.1521A>T (p.Pro507=) c.1446A>T (p.Pro482=) c.1389A>T (p.Pro463=) | |
| 3 | g.30688482G>A | CA351809397 | TGFBR2 | c.1495G>A (p.Glu499Lys) n.379G>A n.3091G>A n.373G>A c.1570G>A (p.Glu524Lys) c.1522G>A (p.Glu508Lys) c.1447G>A (p.Glu483Lys) c.1390G>A (p.Glu464Lys) | dbSNP |
| 3 | g.30688482G>C | CA351809398 | TGFBR2 | c.1495G>C (p.Glu499Gln) n.379G>C n.3091G>C n.373G>C c.1570G>C (p.Glu524Gln) c.1522G>C (p.Glu508Gln) c.1447G>C (p.Glu483Gln) c.1390G>C (p.Glu464Gln) | dbSNP |
| 3 | g.30688482G= | CA1354880369 | TGFBR2 | c.1495G= (p.Glu499=) n.379G= n.3091G= n.373G= c.1570G= (p.Glu524=) c.1522G= (p.Glu508=) c.1447G= (p.Glu483=) c.1390G= (p.Glu464=) | |
| 3 | g.30688482G>T | CA020693 | TGFBR2 | c.1495G>T (p.Glu499Ter) n.379G>T n.3091G>T n.373G>T c.1570G>T (p.Glu524Ter) c.1522G>T (p.Glu508Ter) c.1447G>T (p.Glu483Ter) c.1390G>T (p.Glu464Ter) | ClinVar dbSNP |
| 3 | g.30688483A>C | CA351809401 | TGFBR2 | c.1496A>C (p.Glu499Ala) n.380A>C n.3092A>C n.374A>C c.1571A>C (p.Glu524Ala) c.1523A>C (p.Glu508Ala) c.1448A>C (p.Glu483Ala) c.1391A>C (p.Glu464Ala) | |
| 3 | g.30688483A>G | CA351809399 | TGFBR2 | c.1496A>G (p.Glu499Gly) n.380A>G n.3092A>G n.374A>G c.1571A>G (p.Glu524Gly) c.1523A>G (p.Glu508Gly) c.1448A>G (p.Glu483Gly) c.1391A>G (p.Glu464Gly) | |
| 3 | g.30688483A>T | CA351809400 | TGFBR2 | c.1496A>T (p.Glu499Val) n.380A>T n.3092A>T n.374A>T c.1571A>T (p.Glu524Val) c.1523A>T (p.Glu508Val) c.1448A>T (p.Glu483Val) c.1391A>T (p.Glu464Val) | |
| 3 | g.30688485del | CA2586971791 | TGFBR2 | c.1498del (p.Ile500PhefsTer18) n.382del n.3094del n.376del c.1573del (p.Ile525PhefsTer18) c.1525del (p.Ile509PhefsTer18) c.1450del (p.Ile484PhefsTer18) c.1393del (p.Ile465PhefsTer18) | |
| 3 | g.30688484A>C | CA351809402 | TGFBR2 | c.1497A>C (p.Glu499Asp) n.381A>C n.3093A>C n.375A>C c.1572A>C (p.Glu524Asp) c.1524A>C (p.Glu508Asp) c.1449A>C (p.Glu483Asp) c.1392A>C (p.Glu464Asp) | |
| 3 | g.30688484A>G | CA432917848 | TGFBR2 | c.1497A>G (p.Glu499=) n.381A>G n.3093A>G n.375A>G c.1572A>G (p.Glu524=) c.1524A>G (p.Glu508=) c.1449A>G (p.Glu483=) c.1392A>G (p.Glu464=) | |
| 3 | g.30688484A>T | CA351809403 | TGFBR2 | c.1497A>T (p.Glu499Asp) n.381A>T n.3093A>T n.375A>T c.1572A>T (p.Glu524Asp) c.1524A>T (p.Glu508Asp) c.1449A>T (p.Glu483Asp) c.1392A>T (p.Glu464Asp) | |
| 3 | g.30688485A>C | CA351809404 | TGFBR2 | c.1498A>C (p.Ile500Leu) n.382A>C n.3094A>C n.376A>C c.1573A>C (p.Ile525Leu) c.1525A>C (p.Ile509Leu) c.1450A>C (p.Ile484Leu) c.1393A>C (p.Ile465Leu) | dbSNP |
| 3 | g.30688485A>G | CA351809405 | TGFBR2 | c.1498A>G (p.Ile500Val) n.382A>G n.3094A>G n.376A>G c.1573A>G (p.Ile525Val) c.1525A>G (p.Ile509Val) c.1450A>G (p.Ile484Val) c.1393A>G (p.Ile465Val) | |
| 3 | g.30688485A>T | CA351809406 | TGFBR2 | c.1498A>T (p.Ile500Phe) n.382A>T n.3094A>T n.376A>T c.1573A>T (p.Ile525Phe) c.1525A>T (p.Ile509Phe) c.1450A>T (p.Ile484Phe) c.1393A>T (p.Ile465Phe) | |
| 3 | g.30688486T>A | CA351809407 | TGFBR2 | c.1499T>A (p.Ile500Asn) n.383T>A n.3095T>A n.377T>A c.1574T>A (p.Ile525Asn) c.1526T>A (p.Ile509Asn) c.1451T>A (p.Ile484Asn) c.1394T>A (p.Ile465Asn) | dbSNP |
| 3 | g.30688486T>C | CA351809409 | TGFBR2 | c.1499T>C (p.Ile500Thr) n.383T>C n.3095T>C n.377T>C c.1574T>C (p.Ile525Thr) c.1526T>C (p.Ile509Thr) c.1451T>C (p.Ile484Thr) c.1394T>C (p.Ile465Thr) | dbSNP |
| 3 | g.30688486T>G | CA351809408 | TGFBR2 | c.1499T>G (p.Ile500Ser) n.383T>G n.3095T>G n.377T>G c.1574T>G (p.Ile525Ser) c.1526T>G (p.Ile509Ser) c.1451T>G (p.Ile484Ser) c.1394T>G (p.Ile465Ser) | dbSNP |
| 3 | g.30688487T>A | CA432917849 | TGFBR2 | c.1500T>A (p.Ile500=) n.384T>A n.3096T>A n.378T>A c.1575T>A (p.Ile525=) c.1527T>A (p.Ile509=) c.1452T>A (p.Ile484=) c.1395T>A (p.Ile465=) | gnomAD v4 |
| 3 | g.30688487T>C | CA432917850 | TGFBR2 | c.1500T>C (p.Ile500=) n.384T>C n.3096T>C n.378T>C c.1575T>C (p.Ile525=) c.1527T>C (p.Ile509=) c.1452T>C (p.Ile484=) c.1395T>C (p.Ile465=) | |
| 3 | g.30688487T>G | CA351809410 | TGFBR2 | c.1500T>G (p.Ile500Met) n.384T>G n.3096T>G n.378T>G c.1575T>G (p.Ile525Met) c.1527T>G (p.Ile509Met) c.1452T>G (p.Ile484Met) c.1395T>G (p.Ile465Met) | |
| 3 | g.30688488C>A | CA351809411 | TGFBR2 | c.1501C>A (p.Pro501Thr) n.385C>A n.3097C>A n.379C>A c.1576C>A (p.Pro526Thr) c.1528C>A (p.Pro510Thr) c.1453C>A (p.Pro485Thr) c.1396C>A (p.Pro466Thr) | dbSNP |
| 3 | g.30688488C= | CA1354880370 | TGFBR2 | c.1501C= (p.Pro501=) n.385C= n.3097C= n.379C= c.1576C= (p.Pro526=) c.1528C= (p.Pro510=) c.1453C= (p.Pro485=) c.1396C= (p.Pro466=) | |
| 3 | g.30688488C>G | CA351809412 | TGFBR2 | c.1501C>G (p.Pro501Ala) n.385C>G n.3097C>G n.379C>G c.1576C>G (p.Pro526Ala) c.1528C>G (p.Pro510Ala) c.1453C>G (p.Pro485Ala) c.1396C>G (p.Pro466Ala) | dbSNP |
| 3 | g.30688488C>T | CA351809413 | TGFBR2 | c.1501C>T (p.Pro501Ser) n.385C>T n.3097C>T n.379C>T c.1576C>T (p.Pro526Ser) c.1528C>T (p.Pro510Ser) c.1453C>T (p.Pro485Ser) c.1396C>T (p.Pro466Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30688490del | CA2586971792 | TGFBR2 | c.1503del (p.Ser502AlafsTer16) n.387del n.3099del n.381del c.1578del (p.Ser527AlafsTer16) c.1530del (p.Ser511AlafsTer16) c.1455del (p.Ser486AlafsTer16) c.1398del (p.Ser467AlafsTer16) | |
| 3 | g.30688489C>A | CA351809414 | TGFBR2 | c.1502C>A (p.Pro501His) n.386C>A n.3098C>A n.380C>A c.1577C>A (p.Pro526His) c.1529C>A (p.Pro510His) c.1454C>A (p.Pro485His) c.1397C>A (p.Pro466His) | dbSNP |
| 3 | g.30688489C= | CA1354880371 | TGFBR2 | c.1502C= (p.Pro501=) n.386C= n.3098C= n.380C= c.1577C= (p.Pro526=) c.1529C= (p.Pro510=) c.1454C= (p.Pro485=) c.1397C= (p.Pro466=) | |
| 3 | g.30688489C>G | CA351809415 | TGFBR2 | c.1502C>G (p.Pro501Arg) n.386C>G n.3098C>G n.380C>G c.1577C>G (p.Pro526Arg) c.1529C>G (p.Pro510Arg) c.1454C>G (p.Pro485Arg) c.1397C>G (p.Pro466Arg) | dbSNP |
| 3 | g.30688489C>T | CA046730 | TGFBR2 | c.1502C>T (p.Pro501Leu) n.386C>T n.3098C>T n.380C>T c.1577C>T (p.Pro526Leu) c.1529C>T (p.Pro510Leu) c.1454C>T (p.Pro485Leu) c.1397C>T (p.Pro466Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688489_30688490delinsTT | CA645535114 | TGFBR2 | c.1502_1503delinsTT (p.Pro501Leu) n.386_387delinsTT n.3098_3099delinsTT n.380_381delinsTT c.1577_1578delinsTT (p.Pro526Leu) c.1529_1530delinsTT (p.Pro510Leu) c.1454_1455delinsTT (p.Pro485Leu) c.1397_1398delinsTT (p.Pro466Leu) | COSMIC COSMIC |
| 3 | g.30688490C>A | CA432917853 | TGFBR2 | c.1503C>A (p.Pro501=) n.387C>A n.3099C>A n.381C>A c.1578C>A (p.Pro526=) c.1530C>A (p.Pro510=) c.1455C>A (p.Pro485=) c.1398C>A (p.Pro466=) | dbSNP |
| 3 | g.30688490C= | CA1354880372 | TGFBR2 | c.1503C= (p.Pro501=) n.387C= n.3099C= n.381C= c.1578C= (p.Pro526=) c.1530C= (p.Pro510=) c.1455C= (p.Pro485=) c.1398C= (p.Pro466=) | |
| 3 | g.30688490C>G | CA432917851 | TGFBR2 | c.1503C>G (p.Pro501=) n.387C>G n.3099C>G n.381C>G c.1578C>G (p.Pro526=) c.1530C>G (p.Pro510=) c.1455C>G (p.Pro485=) c.1398C>G (p.Pro466=) | dbSNP |
| 3 | g.30688490C>T | CA432917852 | TGFBR2 | c.1503C>T (p.Pro501=) n.387C>T n.3099C>T n.381C>T c.1578C>T (p.Pro526=) c.1530C>T (p.Pro510=) c.1455C>T (p.Pro485=) c.1398C>T (p.Pro466=) | dbSNP |
| 3 | g.30688491A>C | CA351809416 | TGFBR2 | c.1504A>C (p.Ser502Arg) n.388A>C n.3100A>C n.382A>C c.1579A>C (p.Ser527Arg) c.1531A>C (p.Ser511Arg) c.1456A>C (p.Ser486Arg) c.1399A>C (p.Ser467Arg) | |
| 3 | g.30688491A>G | CA351809417 | TGFBR2 | c.1504A>G (p.Ser502Gly) n.388A>G n.3100A>G n.382A>G c.1579A>G (p.Ser527Gly) c.1531A>G (p.Ser511Gly) c.1456A>G (p.Ser486Gly) c.1399A>G (p.Ser467Gly) | |
| 3 | g.30688491A>T | CA351809418 | TGFBR2 | c.1504A>T (p.Ser502Cys) n.388A>T n.3100A>T n.382A>T c.1579A>T (p.Ser527Cys) c.1531A>T (p.Ser511Cys) c.1456A>T (p.Ser486Cys) c.1399A>T (p.Ser467Cys) | dbSNP |
| 3 | g.30688492G>A | CA351809419 | TGFBR2 | c.1505G>A (p.Ser502Asn) n.389G>A n.3101G>A n.383G>A c.1580G>A (p.Ser527Asn) c.1532G>A (p.Ser511Asn) c.1457G>A (p.Ser486Asn) c.1400G>A (p.Ser467Asn) | dbSNP |
| 3 | g.30688492G>C | CA351809420 | TGFBR2 | c.1505G>C (p.Ser502Thr) n.389G>C n.3101G>C n.383G>C c.1580G>C (p.Ser527Thr) c.1532G>C (p.Ser511Thr) c.1457G>C (p.Ser486Thr) c.1400G>C (p.Ser467Thr) | dbSNP |
| 3 | g.30688492G= | CA1354880373 | TGFBR2 | c.1505G= (p.Ser502=) n.389G= n.3101G= n.383G= c.1580G= (p.Ser527=) c.1532G= (p.Ser511=) c.1457G= (p.Ser486=) c.1400G= (p.Ser467=) | |
| 3 | g.30688492G>T | CA351809421 | TGFBR2 | c.1505G>T (p.Ser502Ile) n.389G>T n.3101G>T n.383G>T c.1580G>T (p.Ser527Ile) c.1532G>T (p.Ser511Ile) c.1457G>T (p.Ser486Ile) c.1400G>T (p.Ser467Ile) | |
| 3 | g.30688493C>A | CA351809422 | TGFBR2 | c.1506C>A (p.Ser502Arg) n.390C>A n.3102C>A n.384C>A c.1581C>A (p.Ser527Arg) c.1533C>A (p.Ser511Arg) c.1458C>A (p.Ser486Arg) c.1401C>A (p.Ser467Arg) | dbSNP |
| 3 | g.30688493C>G | CA351809423 | TGFBR2 | c.1506C>G (p.Ser502Arg) n.390C>G n.3102C>G n.384C>G c.1581C>G (p.Ser527Arg) c.1533C>G (p.Ser511Arg) c.1458C>G (p.Ser486Arg) c.1401C>G (p.Ser467Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30688493C>T | CA432917854 | TGFBR2 | c.1506C>T (p.Ser502=) n.390C>T n.3102C>T n.384C>T c.1581C>T (p.Ser527=) c.1533C>T (p.Ser511=) c.1458C>T (p.Ser486=) c.1401C>T (p.Ser467=) | |
| 3 | g.30688494T>A | CA351809424 | TGFBR2 | c.1507T>A (p.Phe503Ile) n.391T>A n.3103T>A n.385T>A c.1582T>A (p.Phe528Ile) c.1534T>A (p.Phe512Ile) c.1459T>A (p.Phe487Ile) c.1402T>A (p.Phe468Ile) | dbSNP |
| 3 | g.30688494T>C | CA046740 | TGFBR2 | c.1507T>C (p.Phe503Leu) n.391T>C n.3103T>C n.385T>C c.1582T>C (p.Phe528Leu) c.1534T>C (p.Phe512Leu) c.1459T>C (p.Phe487Leu) c.1402T>C (p.Phe468Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688494T>G | CA351809425 | TGFBR2 | c.1507T>G (p.Phe503Val) n.391T>G n.3103T>G n.385T>G c.1582T>G (p.Phe528Val) c.1534T>G (p.Phe512Val) c.1459T>G (p.Phe487Val) c.1402T>G (p.Phe468Val) | |
| 3 | g.30688494T= | CA1354880374 | TGFBR2 | c.1507T= (p.Phe503=) n.391T= n.3103T= n.385T= c.1582T= (p.Phe528=) c.1534T= (p.Phe512=) c.1459T= (p.Phe487=) c.1402T= (p.Phe468=) | |
| 3 | g.30688495T>A | CA351809428 | TGFBR2 | c.1508T>A (p.Phe503Tyr) n.392T>A n.3104T>A n.386T>A c.1583T>A (p.Phe528Tyr) c.1535T>A (p.Phe512Tyr) c.1460T>A (p.Phe487Tyr) c.1403T>A (p.Phe468Tyr) | dbSNP |
| 3 | g.30688495T>C | CA351809427 | TGFBR2 | c.1508T>C (p.Phe503Ser) n.392T>C n.3104T>C n.386T>C c.1583T>C (p.Phe528Ser) c.1535T>C (p.Phe512Ser) c.1460T>C (p.Phe487Ser) c.1403T>C (p.Phe468Ser) | gnomAD v4 |
| 3 | g.30688495T>G | CA351809426 | TGFBR2 | c.1508T>G (p.Phe503Cys) n.392T>G n.3104T>G n.386T>G c.1583T>G (p.Phe528Cys) c.1535T>G (p.Phe512Cys) c.1460T>G (p.Phe487Cys) c.1403T>G (p.Phe468Cys) | |
| 3 | g.30688496C>A | CA351809429 | TGFBR2 | c.1509C>A (p.Phe503Leu) n.393C>A n.3105C>A n.387C>A c.1584C>A (p.Phe528Leu) c.1536C>A (p.Phe512Leu) c.1461C>A (p.Phe487Leu) c.1404C>A (p.Phe468Leu) | dbSNP |
| 3 | g.30688496C>G | CA351809430 | TGFBR2 | c.1509C>G (p.Phe503Leu) n.393C>G n.3105C>G n.387C>G c.1584C>G (p.Phe528Leu) c.1536C>G (p.Phe512Leu) c.1461C>G (p.Phe487Leu) c.1404C>G (p.Phe468Leu) | dbSNP |
| 3 | g.30688496C>T | CA432917855 | TGFBR2 | c.1509C>T (p.Phe503=) n.393C>T n.3105C>T n.387C>T c.1584C>T (p.Phe528=) c.1536C>T (p.Phe512=) c.1461C>T (p.Phe487=) c.1404C>T (p.Phe468=) | dbSNP COSMIC COSMIC |
| 3 | g.30688497T>A | CA351809431 | TGFBR2 | c.1510T>A (p.Trp504Arg) n.394T>A n.3106T>A n.388T>A c.1585T>A (p.Trp529Arg) c.1537T>A (p.Trp513Arg) c.1462T>A (p.Trp488Arg) c.1405T>A (p.Trp469Arg) | |
| 3 | g.30688497T>C | CA351809432 | TGFBR2 | c.1510T>C (p.Trp504Arg) n.394T>C n.3106T>C n.388T>C c.1585T>C (p.Trp529Arg) c.1537T>C (p.Trp513Arg) c.1462T>C (p.Trp488Arg) c.1405T>C (p.Trp469Arg) | ClinVar dbSNP |
| 3 | g.30688497T>G | CA351809433 | TGFBR2 | c.1510T>G (p.Trp504Gly) n.394T>G n.3106T>G n.388T>G c.1585T>G (p.Trp529Gly) c.1537T>G (p.Trp513Gly) c.1462T>G (p.Trp488Gly) c.1405T>G (p.Trp469Gly) | |
| 3 | g.30688497T= | CA1354880375 | TGFBR2 | c.1510T= (p.Trp504=) n.394T= n.3106T= n.388T= c.1585T= (p.Trp529=) c.1537T= (p.Trp513=) c.1462T= (p.Trp488=) c.1405T= (p.Trp469=) | |
| 3 | g.30688498G>A | CA351809436 | TGFBR2 | c.1511G>A (p.Trp504Ter) n.395G>A n.3107G>A n.389G>A c.1586G>A (p.Trp529Ter) c.1538G>A (p.Trp513Ter) c.1463G>A (p.Trp488Ter) c.1406G>A (p.Trp469Ter) | ClinVar dbSNP |
| 3 | g.30688498G>C | CA351809435 | TGFBR2 | c.1511G>C (p.Trp504Ser) n.395G>C n.3107G>C n.389G>C c.1586G>C (p.Trp529Ser) c.1538G>C (p.Trp513Ser) c.1463G>C (p.Trp488Ser) c.1406G>C (p.Trp469Ser) | dbSNP |
| 3 | g.30688498G>T | CA351809434 | TGFBR2 | c.1511G>T (p.Trp504Leu) n.395G>T n.3107G>T n.389G>T c.1586G>T (p.Trp529Leu) c.1538G>T (p.Trp513Leu) c.1463G>T (p.Trp488Leu) c.1406G>T (p.Trp469Leu) | |
| 3 | g.30688499G>A | CA351809437 | TGFBR2 | c.1512G>A (p.Trp504Ter) n.396G>A n.3108G>A n.390G>A c.1587G>A (p.Trp529Ter) c.1539G>A (p.Trp513Ter) c.1464G>A (p.Trp488Ter) c.1407G>A (p.Trp469Ter) | ClinVar dbSNP |
| 3 | g.30688499G>C | CA351809438 | TGFBR2 | c.1512G>C (p.Trp504Cys) n.396G>C n.3108G>C n.390G>C c.1587G>C (p.Trp529Cys) c.1539G>C (p.Trp513Cys) c.1464G>C (p.Trp488Cys) c.1407G>C (p.Trp469Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30688499G= | CA1354880376 | TGFBR2 | c.1512G= (p.Trp504=) n.396G= n.3108G= n.390G= c.1587G= (p.Trp529=) c.1539G= (p.Trp513=) c.1464G= (p.Trp488=) c.1407G= (p.Trp469=) | |
| 3 | g.30688499G>T | CA351809439 | TGFBR2 | c.1512G>T (p.Trp504Cys) n.396G>T n.3108G>T n.390G>T c.1587G>T (p.Trp529Cys) c.1539G>T (p.Trp513Cys) c.1464G>T (p.Trp488Cys) c.1407G>T (p.Trp469Cys) | dbSNP |
| 3 | g.30688500C>A | CA351809440 | TGFBR2 | c.1513C>A (p.Leu505Ile) n.397C>A n.3109C>A n.391C>A c.1588C>A (p.Leu530Ile) c.1540C>A (p.Leu514Ile) c.1465C>A (p.Leu489Ile) c.1408C>A (p.Leu470Ile) | |
| 3 | g.30688500C>G | CA351809441 | TGFBR2 | c.1513C>G (p.Leu505Val) n.397C>G n.3109C>G n.391C>G c.1588C>G (p.Leu530Val) c.1540C>G (p.Leu514Val) c.1465C>G (p.Leu489Val) c.1408C>G (p.Leu470Val) | dbSNP |
| 3 | g.30688500C>T | CA351809442 | TGFBR2 | c.1513C>T (p.Leu505Phe) n.397C>T n.3109C>T n.391C>T c.1588C>T (p.Leu530Phe) c.1540C>T (p.Leu514Phe) c.1465C>T (p.Leu489Phe) c.1408C>T (p.Leu470Phe) | ClinVar gnomAD v4 |
| 3 | g.30688501T>A | CA351809443 | TGFBR2 | c.1514T>A (p.Leu505His) n.398T>A n.3110T>A n.392T>A c.1589T>A (p.Leu530His) c.1541T>A (p.Leu514His) c.1466T>A (p.Leu489His) c.1409T>A (p.Leu470His) | dbSNP |
| 3 | g.30688501T>C | CA351809445 | TGFBR2 | c.1514T>C (p.Leu505Pro) n.398T>C n.3110T>C n.392T>C c.1589T>C (p.Leu530Pro) c.1541T>C (p.Leu514Pro) c.1466T>C (p.Leu489Pro) c.1409T>C (p.Leu470Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30688501T>G | CA351809444 | TGFBR2 | c.1514T>G (p.Leu505Arg) n.398T>G n.3110T>G n.392T>G c.1589T>G (p.Leu530Arg) c.1541T>G (p.Leu514Arg) c.1466T>G (p.Leu489Arg) c.1409T>G (p.Leu470Arg) | |
| 3 | g.30688502C>A | CA432917857 | TGFBR2 | c.1515C>A (p.Leu505=) n.399C>A n.3111C>A n.393C>A c.1590C>A (p.Leu530=) c.1542C>A (p.Leu514=) c.1467C>A (p.Leu489=) c.1410C>A (p.Leu470=) | |
| 3 | g.30688502C>G | CA432917858 | TGFBR2 | c.1515C>G (p.Leu505=) n.399C>G n.3111C>G n.393C>G c.1590C>G (p.Leu530=) c.1542C>G (p.Leu514=) c.1467C>G (p.Leu489=) c.1410C>G (p.Leu470=) | |
| 3 | g.30688502C>T | CA432917859 | TGFBR2 | c.1515C>T (p.Leu505=) n.399C>T n.3111C>T n.393C>T c.1590C>T (p.Leu530=) c.1542C>T (p.Leu514=) c.1467C>T (p.Leu489=) c.1410C>T (p.Leu470=) | ClinVar dbSNP |
| 3 | g.30688503A>C | CA351809446 | TGFBR2 | c.1516A>C (p.Asn506His) n.400A>C n.3112A>C n.394A>C c.1591A>C (p.Asn531His) c.1543A>C (p.Asn515His) c.1468A>C (p.Asn490His) c.1411A>C (p.Asn471His) | |
| 3 | g.30688503A>G | CA351809447 | TGFBR2 | c.1516A>G (p.Asn506Asp) n.400A>G n.3112A>G n.394A>G c.1591A>G (p.Asn531Asp) c.1543A>G (p.Asn515Asp) c.1468A>G (p.Asn490Asp) c.1411A>G (p.Asn471Asp) | |
| 3 | g.30688503A>T | CA351809448 | TGFBR2 | c.1516A>T (p.Asn506Tyr) n.400A>T n.3112A>T n.394A>T c.1591A>T (p.Asn531Tyr) c.1543A>T (p.Asn515Tyr) c.1468A>T (p.Asn490Tyr) c.1411A>T (p.Asn471Tyr) | |
| 3 | g.30688504del | CA923726379 | TGFBR2 | c.1517del (p.Asn506ThrfsTer12) n.401del n.3113del n.395del c.1592del (p.Asn531ThrfsTer12) c.1544del (p.Asn515ThrfsTer12) c.1469del (p.Asn490ThrfsTer12) c.1412del (p.Asn471ThrfsTer12) | |
| 3 | g.30688504A= | CA1354880377 | TGFBR2 | c.1517A= (p.Asn506=) n.401A= n.3113A= n.395A= c.1592A= (p.Asn531=) c.1544A= (p.Asn515=) c.1469A= (p.Asn490=) c.1412A= (p.Asn471=) | |
| 3 | g.30688504A>C | CA351809449 | TGFBR2 | c.1517A>C (p.Asn506Thr) n.401A>C n.3113A>C n.395A>C c.1592A>C (p.Asn531Thr) c.1544A>C (p.Asn515Thr) c.1469A>C (p.Asn490Thr) c.1412A>C (p.Asn471Thr) | |
| 3 | g.30688504A>G | CA046747 | TGFBR2 | c.1517A>G (p.Asn506Ser) n.401A>G n.3113A>G n.395A>G c.1592A>G (p.Asn531Ser) c.1544A>G (p.Asn515Ser) c.1469A>G (p.Asn490Ser) c.1412A>G (p.Asn471Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30688504A>T | CA351809450 | TGFBR2 | c.1517A>T (p.Asn506Ile) n.401A>T n.3113A>T n.395A>T c.1592A>T (p.Asn531Ile) c.1544A>T (p.Asn515Ile) c.1469A>T (p.Asn490Ile) c.1412A>T (p.Asn471Ile) | |
| 3 | g.30688505C>A | CA351809451 | TGFBR2 | c.1518C>A (p.Asn506Lys) n.402C>A n.3114C>A n.396C>A c.1593C>A (p.Asn531Lys) c.1545C>A (p.Asn515Lys) c.1470C>A (p.Asn490Lys) c.1413C>A (p.Asn471Lys) | ClinVar dbSNP |
| 3 | g.30688505C>G | CA351809452 | TGFBR2 | c.1518C>G (p.Asn506Lys) n.402C>G n.3114C>G n.396C>G c.1593C>G (p.Asn531Lys) c.1545C>G (p.Asn515Lys) c.1470C>G (p.Asn490Lys) c.1413C>G (p.Asn471Lys) | dbSNP |
| 3 | g.30688505C>T | CA432917860 | TGFBR2 | c.1518C>T (p.Asn506=) n.402C>T n.3114C>T n.396C>T c.1593C>T (p.Asn531=) c.1545C>T (p.Asn515=) c.1470C>T (p.Asn490=) c.1413C>T (p.Asn471=) | |
| 3 | g.30688506C>A | CA351809453 | TGFBR2 | c.1519C>A (p.His507Asn) n.403C>A n.3115C>A n.397C>A c.1594C>A (p.His532Asn) c.1546C>A (p.His516Asn) c.1471C>A (p.His491Asn) c.1414C>A (p.His472Asn) | dbSNP |
| 3 | g.30688506C= | CA1354880378 | TGFBR2 | c.1519C= (p.His507=) n.403C= n.3115C= n.397C= c.1594C= (p.His532=) c.1546C= (p.His516=) c.1471C= (p.His491=) c.1414C= (p.His472=) | |
| 3 | g.30688506C>G | CA351809454 | TGFBR2 | c.1519C>G (p.His507Asp) n.403C>G n.3115C>G n.397C>G c.1594C>G (p.His532Asp) c.1546C>G (p.His516Asp) c.1471C>G (p.His491Asp) c.1414C>G (p.His472Asp) | dbSNP |
| 3 | g.30688506C>T | CA046758 | TGFBR2 | c.1519C>T (p.His507Tyr) n.403C>T n.3115C>T n.397C>T c.1594C>T (p.His532Tyr) c.1546C>T (p.His516Tyr) c.1471C>T (p.His491Tyr) c.1414C>T (p.His472Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688507A>C | CA351809457 | TGFBR2 | c.1520A>C (p.His507Pro) n.404A>C n.3116A>C n.398A>C c.1595A>C (p.His532Pro) c.1547A>C (p.His516Pro) c.1472A>C (p.His491Pro) c.1415A>C (p.His472Pro) | |
| 3 | g.30688507A>G | CA351809456 | TGFBR2 | c.1520A>G (p.His507Arg) n.404A>G n.3116A>G n.398A>G c.1595A>G (p.His532Arg) c.1547A>G (p.His516Arg) c.1472A>G (p.His491Arg) c.1415A>G (p.His472Arg) | |
| 3 | g.30688507A>T | CA351809455 | TGFBR2 | c.1520A>T (p.His507Leu) n.404A>T n.3116A>T n.398A>T c.1595A>T (p.His532Leu) c.1547A>T (p.His516Leu) c.1472A>T (p.His491Leu) c.1415A>T (p.His472Leu) | dbSNP |
| 3 | g.30688507dup | CA2586971793 | TGFBR2 | c.1520dup (p.His507GlnfsTer9) n.404dup n.3116dup n.398dup c.1595dup (p.His532GlnfsTer9) c.1547dup (p.His516GlnfsTer9) c.1472dup (p.His491GlnfsTer9) c.1415dup (p.His472GlnfsTer9) | |
| 3 | g.30688508C>A | CA351809458 | TGFBR2 | c.1521C>A (p.His507Gln) n.405C>A n.3117C>A n.399C>A c.1596C>A (p.His532Gln) c.1548C>A (p.His516Gln) c.1473C>A (p.His491Gln) c.1416C>A (p.His472Gln) | dbSNP |
| 3 | g.30688508C= | CA1354880379 | TGFBR2 | c.1521C= (p.His507=) n.405C= n.3117C= n.399C= c.1596C= (p.His532=) c.1548C= (p.His516=) c.1473C= (p.His491=) c.1416C= (p.His472=) | |
| 3 | g.30688508C>G | CA351809459 | TGFBR2 | c.1521C>G (p.His507Gln) n.405C>G n.3117C>G n.399C>G c.1596C>G (p.His532Gln) c.1548C>G (p.His516Gln) c.1473C>G (p.His491Gln) c.1416C>G (p.His472Gln) | dbSNP |
| 3 | g.30688508C>T | CA046773 | TGFBR2 | c.1521C>T (p.His507=) n.405C>T n.3117C>T n.399C>T c.1596C>T (p.His532=) c.1548C>T (p.His516=) c.1473C>T (p.His491=) c.1416C>T (p.His472=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30688509C>A | CA351809460 | TGFBR2 | c.1522C>A (p.Gln508Lys) n.406C>A n.3118C>A n.400C>A c.1597C>A (p.Gln533Lys) c.1549C>A (p.Gln517Lys) c.1474C>A (p.Gln492Lys) c.1417C>A (p.Gln473Lys) | |
| 3 | g.30688509C= | CA1354880380 | TGFBR2 | c.1522C= (p.Gln508=) n.406C= n.3118C= n.400C= c.1597C= (p.Gln533=) c.1549C= (p.Gln517=) c.1474C= (p.Gln492=) c.1417C= (p.Gln473=) | |
| 3 | g.30688509C>G | CA351809461 | TGFBR2 | c.1522C>G (p.Gln508Glu) n.406C>G n.3118C>G n.400C>G c.1597C>G (p.Gln533Glu) c.1549C>G (p.Gln517Glu) c.1474C>G (p.Gln492Glu) c.1417C>G (p.Gln473Glu) | dbSNP |
| 3 | g.30688509C>T | CA046790 | TGFBR2 | c.1522C>T (p.Gln508Ter) n.406C>T n.3118C>T n.400C>T c.1597C>T (p.Gln533Ter) c.1549C>T (p.Gln517Ter) c.1474C>T (p.Gln492Ter) c.1417C>T (p.Gln473Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688510A>C | CA351809462 | TGFBR2 | c.1523A>C (p.Gln508Pro) n.407A>C n.3119A>C n.401A>C c.1598A>C (p.Gln533Pro) c.1550A>C (p.Gln517Pro) c.1475A>C (p.Gln492Pro) c.1418A>C (p.Gln473Pro) | gnomAD v4 |
| 3 | g.30688510A>G | CA351809464 | TGFBR2 | c.1523A>G (p.Gln508Arg) n.407A>G n.3119A>G n.401A>G c.1598A>G (p.Gln533Arg) c.1550A>G (p.Gln517Arg) c.1475A>G (p.Gln492Arg) c.1418A>G (p.Gln473Arg) | dbSNP |
| 3 | g.30688510A>T | CA351809463 | TGFBR2 | c.1523A>T (p.Gln508Leu) n.407A>T n.3119A>T n.401A>T c.1598A>T (p.Gln533Leu) c.1550A>T (p.Gln517Leu) c.1475A>T (p.Gln492Leu) c.1418A>T (p.Gln473Leu) | dbSNP |
| 3 | g.30688511G>A | CA020701 | TGFBR2 | c.1524G>A (p.Gln508=) n.408G>A n.3120G>A n.402G>A c.1599G>A (p.Gln533=) c.1551G>A (p.Gln517=) c.1476G>A (p.Gln492=) c.1419G>A (p.Gln473=) | ClinVar dbSNP |
| 3 | g.30688511G>C | CA351809465 | TGFBR2 | c.1524G>C (p.Gln508His) n.408G>C n.3120G>C n.402G>C c.1599G>C (p.Gln533His) c.1551G>C (p.Gln517His) c.1476G>C (p.Gln492His) c.1419G>C (p.Gln473His) | dbSNP |
| 3 | g.30688511G= | CA1354880381 | TGFBR2 | c.1524G= (p.Gln508=) n.408G= n.3120G= n.402G= c.1599G= (p.Gln533=) c.1551G= (p.Gln517=) c.1476G= (p.Gln492=) c.1419G= (p.Gln473=) | |
| 3 | g.30688511G>T | CA351809466 | TGFBR2 | c.1524G>T (p.Gln508His) n.408G>T n.3120G>T n.402G>T c.1599G>T (p.Gln533His) c.1551G>T (p.Gln517His) c.1476G>T (p.Gln492His) c.1419G>T (p.Gln473His) | dbSNP |
| 3 | g.30688512G>A | CA020696 | TGFBR2 | c.1524+1G>A (n.1524+1G>A) n.408+1G>A n.3120+1G>A n.402+1G>A c.1599+1G>A (n.1599+1G>A) c.1551+1G>A (n.1551+1G>A) c.1476+1G>A (n.1476+1G>A) c.1419+1G>A (n.1419+1G>A) | ClinVar dbSNP |
| 3 | g.30688512G>C | CA351809467 | TGFBR2 | c.1524+1G>C (n.1524+1G>C) n.408+1G>C n.3120+1G>C n.402+1G>C c.1599+1G>C (n.1599+1G>C) c.1551+1G>C (n.1551+1G>C) c.1476+1G>C (n.1476+1G>C) c.1419+1G>C (n.1419+1G>C) | dbSNP |
| 3 | g.30688512G= | CA1354880382 | TGFBR2 | c.1524+1G= (n.1524+1G=) n.408+1G= n.3120+1G= n.402+1G= c.1599+1G= (n.1599+1G=) c.1551+1G= (n.1551+1G=) c.1476+1G= (n.1476+1G=) c.1419+1G= (n.1419+1G=) | |
| 3 | g.30688512G>T | CA351809468 | TGFBR2 | c.1524+1G>T (n.1524+1G>T) n.408+1G>T n.3120+1G>T n.402+1G>T c.1599+1G>T (n.1599+1G>T) c.1551+1G>T (n.1551+1G>T) c.1476+1G>T (n.1476+1G>T) c.1419+1G>T (n.1419+1G>T) | ClinVar dbSNP |
| 3 | g.30688513T>A | CA71543874 | TGFBR2 | c.1524+2T>A (n.1524+2T>A) n.408+2T>A n.3120+2T>A n.402+2T>A c.1599+2T>A (n.1599+2T>A) c.1551+2T>A (n.1551+2T>A) c.1476+2T>A (n.1476+2T>A) c.1419+2T>A (n.1419+2T>A) | dbSNP |
| 3 | g.30688513T>C | CA351809469 | TGFBR2 | c.1524+2T>C (n.1524+2T>C) n.408+2T>C n.3120+2T>C n.402+2T>C c.1599+2T>C (n.1599+2T>C) c.1551+2T>C (n.1551+2T>C) c.1476+2T>C (n.1476+2T>C) c.1419+2T>C (n.1419+2T>C) | ClinVar COSMIC COSMIC |
| 3 | g.30688513T>G | CA71543876 | TGFBR2 | c.1524+2T>G (n.1524+2T>G) n.408+2T>G n.3120+2T>G n.402+2T>G c.1599+2T>G (n.1599+2T>G) c.1551+2T>G (n.1551+2T>G) c.1476+2T>G (n.1476+2T>G) c.1419+2T>G (n.1419+2T>G) | dbSNP |
| 3 | g.30688513T= | CA1354880383 | TGFBR2 | c.1524+2T= (n.1524+2T=) n.408+2T= n.3120+2T= n.402+2T= c.1599+2T= (n.1599+2T=) c.1551+2T= (n.1551+2T=) c.1476+2T= (n.1476+2T=) c.1419+2T= (n.1419+2T=) | |
| 3 | g.30688514A= | CA1354880384 | TGFBR2 | c.1524+3A= (n.1524+3A=) n.408+3A= n.3120+3A= n.402+3A= c.1599+3A= (n.1599+3A=) c.1551+3A= (n.1551+3A=) c.1476+3A= (n.1476+3A=) c.1419+3A= (n.1419+3A=) | |
| 3 | g.30688514A>G | CA541687547 | TGFBR2 | c.1524+3A>G (n.1524+3A>G) n.408+3A>G n.3120+3A>G n.402+3A>G c.1599+3A>G (n.1599+3A>G) c.1551+3A>G (n.1551+3A>G) c.1476+3A>G (n.1476+3A>G) c.1419+3A>G (n.1419+3A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30688514A>T | CA2702277085 | TGFBR2 | c.1524+3A>T (n.1524+3A>T) n.408+3A>T n.3120+3A>T n.402+3A>T c.1599+3A>T (n.1599+3A>T) c.1551+3A>T (n.1551+3A>T) c.1476+3A>T (n.1476+3A>T) c.1419+3A>T (n.1419+3A>T) | dbSNP |
| 3 | g.30688515A>G | CA2697550745 | TGFBR2 | c.1524+4A>G (n.1524+4A>G) n.408+4A>G n.3120+4A>G n.402+4A>G c.1599+4A>G (n.1599+4A>G) c.1551+4A>G (n.1551+4A>G) c.1476+4A>G (n.1476+4A>G) c.1419+4A>G (n.1419+4A>G) | ClinVar |
| 3 | g.30688516G>A | CA2702389557 | TGFBR2 | c.1524+5G>A (n.1524+5G>A) n.408+5G>A n.3120+5G>A n.402+5G>A c.1599+5G>A (n.1599+5G>A) c.1551+5G>A (n.1551+5G>A) c.1476+5G>A (n.1476+5G>A) c.1419+5G>A (n.1419+5G>A) | dbSNP |
| 3 | g.30688516G>C | CA2702389558 | TGFBR2 | c.1524+5G>C (n.1524+5G>C) n.408+5G>C n.3120+5G>C n.402+5G>C c.1599+5G>C (n.1599+5G>C) c.1551+5G>C (n.1551+5G>C) c.1476+5G>C (n.1476+5G>C) c.1419+5G>C (n.1419+5G>C) | dbSNP |
| 3 | g.30688517G>A | CA2524659603 | TGFBR2 | c.1524+6G>A (n.1524+6G>A) n.408+6G>A n.3120+6G>A n.402+6G>A c.1599+6G>A (n.1599+6G>A) c.1551+6G>A (n.1551+6G>A) c.1476+6G>A (n.1476+6G>A) c.1419+6G>A (n.1419+6G>A) | dbSNP gnomAD v4 |
| 3 | g.30688517G>C | CA2702389751 | TGFBR2 | c.1524+6G>C (n.1524+6G>C) n.408+6G>C n.3120+6G>C n.402+6G>C c.1599+6G>C (n.1599+6G>C) c.1551+6G>C (n.1551+6G>C) c.1476+6G>C (n.1476+6G>C) c.1419+6G>C (n.1419+6G>C) | dbSNP |
| 3 | g.30688522_30688525del | CA2577536245 | TGFBR2 | c.1524+11_1524+14del (n.1524+11_1524+14del) n.408+11_408+14del n.3120+11_3120+14del n.402+11_402+14del c.1599+11_1599+14del (n.1599+11_1599+14del) c.1551+11_1551+14del (n.1551+11_1551+14del) c.1476+11_1476+14del (n.1476+11_1476+14del) c.1419+11_1419+14del (n.1419+11_1419+14del) | ClinVar gnomAD v4 |
| 3 | g.30688518A= | CA1354880385 | TGFBR2 | c.1524+7A= (n.1524+7A=) n.408+7A= n.3120+7A= n.402+7A= c.1599+7A= (n.1599+7A=) c.1551+7A= (n.1551+7A=) c.1476+7A= (n.1476+7A=) c.1419+7A= (n.1419+7A=) | |
| 3 | g.30688518A>G | CA658657281 | TGFBR2 | c.1524+7A>G (n.1524+7A>G) n.408+7A>G n.3120+7A>G n.402+7A>G c.1599+7A>G (n.1599+7A>G) c.1551+7A>G (n.1551+7A>G) c.1476+7A>G (n.1476+7A>G) c.1419+7A>G (n.1419+7A>G) | ClinVar dbSNP |
| 3 | g.30688519G>A | CA2664867935 | TGFBR2 | c.1524+8G>A (n.1524+8G>A) n.408+8G>A n.3120+8G>A n.402+8G>A c.1599+8G>A (n.1599+8G>A) c.1551+8G>A (n.1551+8G>A) c.1476+8G>A (n.1476+8G>A) c.1419+8G>A (n.1419+8G>A) | dbSNP gnomAD v4 |
| 3 | g.30688519G>C | CA2702389792 | TGFBR2 | c.1524+8G>C (n.1524+8G>C) n.408+8G>C n.3120+8G>C n.402+8G>C c.1599+8G>C (n.1599+8G>C) c.1551+8G>C (n.1551+8G>C) c.1476+8G>C (n.1476+8G>C) c.1419+8G>C (n.1419+8G>C) | dbSNP |