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.30688384A= | CA1354880318 | TGFBR2 | c.1397A= (p.Glu466=) n.281A= n.2993A= n.275A= c.1472A= (p.Glu491=) c.1424A= (p.Glu475=) c.1349A= (p.Glu450=) c.1292A= (p.Glu431=) | |
| 3 | g.30688384A>C | CA351809185 | TGFBR2 | c.1397A>C (p.Glu466Ala) n.281A>C n.2993A>C n.275A>C c.1472A>C (p.Glu491Ala) c.1424A>C (p.Glu475Ala) c.1349A>C (p.Glu450Ala) c.1292A>C (p.Glu431Ala) | |
| 3 | g.30688384A>G | CA351809186 | TGFBR2 | c.1397A>G (p.Glu466Gly) n.281A>G n.2993A>G n.275A>G c.1472A>G (p.Glu491Gly) c.1424A>G (p.Glu475Gly) c.1349A>G (p.Glu450Gly) c.1292A>G (p.Glu431Gly) | |
| 3 | g.30688384A>T | CA351809187 | TGFBR2 | c.1397A>T (p.Glu466Val) n.281A>T n.2993A>T n.275A>T c.1472A>T (p.Glu491Val) c.1424A>T (p.Glu475Val) c.1349A>T (p.Glu450Val) c.1292A>T (p.Glu431Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30688385A>C | CA351809188 | TGFBR2 | c.1398A>C (p.Glu466Asp) n.282A>C n.2994A>C n.276A>C c.1473A>C (p.Glu491Asp) c.1425A>C (p.Glu475Asp) c.1350A>C (p.Glu450Asp) c.1293A>C (p.Glu431Asp) | |
| 3 | g.30688385A>G | CA432917792 | TGFBR2 | c.1398A>G (p.Glu466=) n.282A>G n.2994A>G n.276A>G c.1473A>G (p.Glu491=) c.1425A>G (p.Glu475=) c.1350A>G (p.Glu450=) c.1293A>G (p.Glu431=) | ClinVar gnomAD v4 |
| 3 | g.30688385A>T | CA351809189 | TGFBR2 | c.1398A>T (p.Glu466Asp) n.282A>T n.2994A>T n.276A>T c.1473A>T (p.Glu491Asp) c.1425A>T (p.Glu475Asp) c.1350A>T (p.Glu450Asp) c.1293A>T (p.Glu431Asp) | dbSNP |
| 3 | g.30688386G>A | CA351809190 | TGFBR2 | c.1399G>A (p.Val467Ile) n.283G>A n.2995G>A n.277G>A c.1474G>A (p.Val492Ile) c.1426G>A (p.Val476Ile) c.1351G>A (p.Val451Ile) c.1294G>A (p.Val432Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30688386G>C | CA351809191 | TGFBR2 | c.1399G>C (p.Val467Leu) n.283G>C n.2995G>C n.277G>C c.1474G>C (p.Val492Leu) c.1426G>C (p.Val476Leu) c.1351G>C (p.Val451Leu) c.1294G>C (p.Val432Leu) | dbSNP |
| 3 | g.30688386G>T | CA351809192 | TGFBR2 | c.1399G>T (p.Val467Leu) n.283G>T n.2995G>T n.277G>T c.1474G>T (p.Val492Leu) c.1426G>T (p.Val476Leu) c.1351G>T (p.Val451Leu) c.1294G>T (p.Val432Leu) | |
| 3 | g.30688387T>A | CA351809193 | TGFBR2 | c.1400T>A (p.Val467Glu) n.284T>A n.2996T>A n.278T>A c.1475T>A (p.Val492Glu) c.1427T>A (p.Val476Glu) c.1352T>A (p.Val451Glu) c.1295T>A (p.Val432Glu) | |
| 3 | g.30688387T>C | CA351809194 | TGFBR2 | c.1400T>C (p.Val467Ala) n.284T>C n.2996T>C n.278T>C c.1475T>C (p.Val492Ala) c.1427T>C (p.Val476Ala) c.1352T>C (p.Val451Ala) c.1295T>C (p.Val432Ala) | |
| 3 | g.30688387T>G | CA351809195 | TGFBR2 | c.1400T>G (p.Val467Gly) n.284T>G n.2996T>G n.278T>G c.1475T>G (p.Val492Gly) c.1427T>G (p.Val476Gly) c.1352T>G (p.Val451Gly) c.1295T>G (p.Val432Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30688387T= | CA1354880319 | TGFBR2 | c.1400T= (p.Val467=) n.284T= n.2996T= n.278T= c.1475T= (p.Val492=) c.1427T= (p.Val476=) c.1352T= (p.Val451=) c.1295T= (p.Val432=) | |
| 3 | g.30688388A>C | CA432917793 | TGFBR2 | c.1401A>C (p.Val467=) n.285A>C n.2997A>C n.279A>C c.1476A>C (p.Val492=) c.1428A>C (p.Val476=) c.1353A>C (p.Val451=) c.1296A>C (p.Val432=) | |
| 3 | g.30688388A>G | CA432917794 | TGFBR2 | c.1401A>G (p.Val467=) n.285A>G n.2997A>G n.279A>G c.1476A>G (p.Val492=) c.1428A>G (p.Val476=) c.1353A>G (p.Val451=) c.1296A>G (p.Val432=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30688388A>T | CA432917795 | TGFBR2 | c.1401A>T (p.Val467=) n.285A>T n.2997A>T n.279A>T c.1476A>T (p.Val492=) c.1428A>T (p.Val476=) c.1353A>T (p.Val451=) c.1296A>T (p.Val432=) | |
| 3 | g.30688389A>C | CA351809196 | TGFBR2 | c.1402A>C (p.Lys468Gln) n.286A>C n.2998A>C n.280A>C c.1477A>C (p.Lys493Gln) c.1429A>C (p.Lys477Gln) c.1354A>C (p.Lys452Gln) c.1297A>C (p.Lys433Gln) | COSMIC |
| 3 | g.30688389A>G | CA351809197 | TGFBR2 | c.1402A>G (p.Lys468Glu) n.286A>G n.2998A>G n.280A>G c.1477A>G (p.Lys493Glu) c.1429A>G (p.Lys477Glu) c.1354A>G (p.Lys452Glu) c.1297A>G (p.Lys433Glu) | |
| 3 | g.30688389A>T | CA351809198 | TGFBR2 | c.1402A>T (p.Lys468Ter) n.286A>T n.2998A>T n.280A>T c.1477A>T (p.Lys493Ter) c.1429A>T (p.Lys477Ter) c.1354A>T (p.Lys452Ter) c.1297A>T (p.Lys433Ter) | |
| 3 | g.30688390A>C | CA351809199 | TGFBR2 | c.1403A>C (p.Lys468Thr) n.287A>C n.2999A>C n.281A>C c.1478A>C (p.Lys493Thr) c.1430A>C (p.Lys477Thr) c.1355A>C (p.Lys452Thr) c.1298A>C (p.Lys433Thr) | |
| 3 | g.30688390A>G | CA351809200 | TGFBR2 | c.1403A>G (p.Lys468Arg) n.287A>G n.2999A>G n.281A>G c.1478A>G (p.Lys493Arg) c.1430A>G (p.Lys477Arg) c.1355A>G (p.Lys452Arg) c.1298A>G (p.Lys433Arg) | |
| 3 | g.30688390A>T | CA351809201 | TGFBR2 | c.1403A>T (p.Lys468Ile) n.287A>T n.2999A>T n.281A>T c.1478A>T (p.Lys493Ile) c.1430A>T (p.Lys477Ile) c.1355A>T (p.Lys452Ile) c.1298A>T (p.Lys433Ile) | ClinVar |
| 3 | g.30688391A>C | CA351809202 | TGFBR2 | c.1404A>C (p.Lys468Asn) n.288A>C n.3000A>C n.282A>C c.1479A>C (p.Lys493Asn) c.1431A>C (p.Lys477Asn) c.1356A>C (p.Lys452Asn) c.1299A>C (p.Lys433Asn) | |
| 3 | g.30688391A>G | CA432917796 | TGFBR2 | c.1404A>G (p.Lys468=) n.288A>G n.3000A>G n.282A>G c.1479A>G (p.Lys493=) c.1431A>G (p.Lys477=) c.1356A>G (p.Lys452=) c.1299A>G (p.Lys433=) | dbSNP gnomAD v4 |
| 3 | g.30688391A>T | CA351809203 | TGFBR2 | c.1404A>T (p.Lys468Asn) n.288A>T n.3000A>T n.282A>T c.1479A>T (p.Lys493Asn) c.1431A>T (p.Lys477Asn) c.1356A>T (p.Lys452Asn) c.1299A>T (p.Lys433Asn) | |
| 3 | g.30688392G>A | CA351809204 | TGFBR2 | c.1405G>A (p.Asp469Asn) n.289G>A n.3001G>A n.283G>A c.1480G>A (p.Asp494Asn) c.1432G>A (p.Asp478Asn) c.1357G>A (p.Asp453Asn) c.1300G>A (p.Asp434Asn) | dbSNP |
| 3 | g.30688392G>C | CA351809205 | TGFBR2 | c.1405G>C (p.Asp469His) n.289G>C n.3001G>C n.283G>C c.1480G>C (p.Asp494His) c.1432G>C (p.Asp478His) c.1357G>C (p.Asp453His) c.1300G>C (p.Asp434His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30688392G= | CA1354880320 | TGFBR2 | c.1405G= (p.Asp469=) n.289G= n.3001G= n.283G= c.1480G= (p.Asp494=) c.1432G= (p.Asp478=) c.1357G= (p.Asp453=) c.1300G= (p.Asp434=) | |
| 3 | g.30688392G>T | CA351809206 | TGFBR2 | c.1405G>T (p.Asp469Tyr) n.289G>T n.3001G>T n.283G>T c.1480G>T (p.Asp494Tyr) c.1432G>T (p.Asp478Tyr) c.1357G>T (p.Asp453Tyr) c.1300G>T (p.Asp434Tyr) | ClinVar |
| 3 | g.30688393A= | CA1354880321 | TGFBR2 | c.1406A= (p.Asp469=) n.290A= n.3002A= n.284A= c.1481A= (p.Asp494=) c.1433A= (p.Asp478=) c.1358A= (p.Asp453=) c.1301A= (p.Asp434=) | |
| 3 | g.30688393A>C | CA351809207 | TGFBR2 | c.1406A>C (p.Asp469Ala) n.290A>C n.3002A>C n.284A>C c.1481A>C (p.Asp494Ala) c.1433A>C (p.Asp478Ala) c.1358A>C (p.Asp453Ala) c.1301A>C (p.Asp434Ala) | |
| 3 | g.30688393A>G | CA046520 | TGFBR2 | c.1406A>G (p.Asp469Gly) n.290A>G n.3002A>G n.284A>G c.1481A>G (p.Asp494Gly) c.1433A>G (p.Asp478Gly) c.1358A>G (p.Asp453Gly) c.1301A>G (p.Asp434Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688393A>T | CA046538 | TGFBR2 | c.1406A>T (p.Asp469Val) n.290A>T n.3002A>T n.284A>T c.1481A>T (p.Asp494Val) c.1433A>T (p.Asp478Val) c.1358A>T (p.Asp453Val) c.1301A>T (p.Asp434Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688394T>A | CA351809208 | TGFBR2 | c.1407T>A (p.Asp469Glu) n.291T>A n.3003T>A n.285T>A c.1482T>A (p.Asp494Glu) c.1434T>A (p.Asp478Glu) c.1359T>A (p.Asp453Glu) c.1302T>A (p.Asp434Glu) | dbSNP gnomAD v4 |
| 3 | g.30688394T>C | CA71543587 | TGFBR2 | c.1407T>C (p.Asp469=) n.291T>C n.3003T>C n.285T>C c.1482T>C (p.Asp494=) c.1434T>C (p.Asp478=) c.1359T>C (p.Asp453=) c.1302T>C (p.Asp434=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30688394T>G | CA351809209 | TGFBR2 | c.1407T>G (p.Asp469Glu) n.291T>G n.3003T>G n.285T>G c.1482T>G (p.Asp494Glu) c.1434T>G (p.Asp478Glu) c.1359T>G (p.Asp453Glu) c.1302T>G (p.Asp434Glu) | |
| 3 | g.30688394T= | CA1354880322 | TGFBR2 | c.1407T= (p.Asp469=) n.291T= n.3003T= n.285T= c.1482T= (p.Asp494=) c.1434T= (p.Asp478=) c.1359T= (p.Asp453=) c.1302T= (p.Asp434=) | |
| 3 | g.30688395del | CA2588340063 | TGFBR2 | c.1408del (p.Tyr470MetfsTer18) n.292del n.3004del n.286del c.1483del (p.Tyr495MetfsTer18) c.1435del (p.Tyr479MetfsTer18) c.1360del (p.Tyr454MetfsTer18) c.1303del (p.Tyr435MetfsTer18) | |
| 3 | g.30688395T>A | CA351809210 | TGFBR2 | c.1408T>A (p.Tyr470Asn) n.292T>A n.3004T>A n.286T>A c.1483T>A (p.Tyr495Asn) c.1435T>A (p.Tyr479Asn) c.1360T>A (p.Tyr454Asn) c.1303T>A (p.Tyr435Asn) | ClinVar dbSNP |
| 3 | g.30688395T>C | CA351809211 | TGFBR2 | c.1408T>C (p.Tyr470His) n.292T>C n.3004T>C n.286T>C c.1483T>C (p.Tyr495His) c.1435T>C (p.Tyr479His) c.1360T>C (p.Tyr454His) c.1303T>C (p.Tyr435His) | dbSNP gnomAD v4 |
| 3 | g.30688395T>G | CA321611 | TGFBR2 | c.1408T>G (p.Tyr470Asp) n.292T>G n.3004T>G n.286T>G c.1483T>G (p.Tyr495Asp) c.1435T>G (p.Tyr479Asp) c.1360T>G (p.Tyr454Asp) c.1303T>G (p.Tyr435Asp) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30688395T= | CA1354880323 | TGFBR2 | c.1408T= (p.Tyr470=) n.292T= n.3004T= n.286T= c.1483T= (p.Tyr495=) c.1435T= (p.Tyr479=) c.1360T= (p.Tyr454=) c.1303T= (p.Tyr435=) | |
| 3 | g.30688396A= | CA1354880324 | TGFBR2 | c.1409A= (p.Tyr470=) n.293A= n.3005A= n.287A= c.1484A= (p.Tyr495=) c.1436A= (p.Tyr479=) c.1361A= (p.Tyr454=) c.1304A= (p.Tyr435=) | |
| 3 | g.30688396A>C | CA351809213 | TGFBR2 | c.1409A>C (p.Tyr470Ser) n.293A>C n.3005A>C n.287A>C c.1484A>C (p.Tyr495Ser) c.1436A>C (p.Tyr479Ser) c.1361A>C (p.Tyr454Ser) c.1304A>C (p.Tyr435Ser) | |
| 3 | g.30688396A>G | CA351809212 | TGFBR2 | c.1409A>G (p.Tyr470Cys) n.293A>G n.3005A>G n.287A>G c.1484A>G (p.Tyr495Cys) c.1436A>G (p.Tyr479Cys) c.1361A>G (p.Tyr454Cys) c.1304A>G (p.Tyr435Cys) | ClinVar dbSNP |
| 3 | g.30688396A>T | CA046550 | TGFBR2 | c.1409A>T (p.Tyr470Phe) n.293A>T n.3005A>T n.287A>T c.1484A>T (p.Tyr495Phe) c.1436A>T (p.Tyr479Phe) c.1361A>T (p.Tyr454Phe) c.1304A>T (p.Tyr435Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688397T>A | CA351809214 | TGFBR2 | c.1410T>A (p.Tyr470Ter) n.294T>A n.3006T>A n.288T>A c.1485T>A (p.Tyr495Ter) c.1437T>A (p.Tyr479Ter) c.1362T>A (p.Tyr454Ter) c.1305T>A (p.Tyr435Ter) | dbSNP |
| 3 | g.30688397T>C | CA432917797 | TGFBR2 | c.1410T>C (p.Tyr470=) n.294T>C n.3006T>C n.288T>C c.1485T>C (p.Tyr495=) c.1437T>C (p.Tyr479=) c.1362T>C (p.Tyr454=) c.1305T>C (p.Tyr435=) | |
| 3 | g.30688397T>G | CA351809215 | TGFBR2 | c.1410T>G (p.Tyr470Ter) n.294T>G n.3006T>G n.288T>G c.1485T>G (p.Tyr495Ter) c.1437T>G (p.Tyr479Ter) c.1362T>G (p.Tyr454Ter) c.1305T>G (p.Tyr435Ter) | ClinVar dbSNP |
| 3 | g.30688397T= | CA1354880325 | TGFBR2 | c.1410T= (p.Tyr470=) n.294T= n.3006T= n.288T= c.1485T= (p.Tyr495=) c.1437T= (p.Tyr479=) c.1362T= (p.Tyr454=) c.1305T= (p.Tyr435=) | |
| 3 | g.30688398G>A | CA351809216 | TGFBR2 | c.1411G>A (p.Glu471Lys) n.295G>A n.3007G>A n.289G>A c.1486G>A (p.Glu496Lys) c.1438G>A (p.Glu480Lys) c.1363G>A (p.Glu455Lys) c.1306G>A (p.Glu436Lys) | dbSNP |
| 3 | g.30688398G>C | CA351809217 | TGFBR2 | c.1411G>C (p.Glu471Gln) n.295G>C n.3007G>C n.289G>C c.1486G>C (p.Glu496Gln) c.1438G>C (p.Glu480Gln) c.1363G>C (p.Glu455Gln) c.1306G>C (p.Glu436Gln) | dbSNP |
| 3 | g.30688398G>T | CA351809218 | TGFBR2 | c.1411G>T (p.Glu471Ter) n.295G>T n.3007G>T n.289G>T c.1486G>T (p.Glu496Ter) c.1438G>T (p.Glu480Ter) c.1363G>T (p.Glu455Ter) c.1306G>T (p.Glu436Ter) | |
| 3 | g.30688399A>C | CA351809219 | TGFBR2 | c.1412A>C (p.Glu471Ala) n.296A>C n.3008A>C n.290A>C c.1487A>C (p.Glu496Ala) c.1439A>C (p.Glu480Ala) c.1364A>C (p.Glu455Ala) c.1307A>C (p.Glu436Ala) | |
| 3 | g.30688399A>G | CA351809220 | TGFBR2 | c.1412A>G (p.Glu471Gly) n.296A>G n.3008A>G n.290A>G c.1487A>G (p.Glu496Gly) c.1439A>G (p.Glu480Gly) c.1364A>G (p.Glu455Gly) c.1307A>G (p.Glu436Gly) | dbSNP |
| 3 | g.30688399A>T | CA351809221 | TGFBR2 | c.1412A>T (p.Glu471Val) n.296A>T n.3008A>T n.290A>T c.1487A>T (p.Glu496Val) c.1439A>T (p.Glu480Val) c.1364A>T (p.Glu455Val) c.1307A>T (p.Glu436Val) | dbSNP |
| 3 | g.30688400G>A | CA432917798 | TGFBR2 | c.1413G>A (p.Glu471=) n.297G>A n.3009G>A n.291G>A c.1488G>A (p.Glu496=) c.1440G>A (p.Glu480=) c.1365G>A (p.Glu455=) c.1308G>A (p.Glu436=) | dbSNP gnomAD v4 |
| 3 | g.30688400G>C | CA351809222 | TGFBR2 | c.1413G>C (p.Glu471Asp) n.297G>C n.3009G>C n.291G>C c.1488G>C (p.Glu496Asp) c.1440G>C (p.Glu480Asp) c.1365G>C (p.Glu455Asp) c.1308G>C (p.Glu436Asp) | dbSNP |
| 3 | g.30688400G>T | CA351809223 | TGFBR2 | c.1413G>T (p.Glu471Asp) n.297G>T n.3009G>T n.291G>T c.1488G>T (p.Glu496Asp) c.1440G>T (p.Glu480Asp) c.1365G>T (p.Glu455Asp) c.1308G>T (p.Glu436Asp) | dbSNP gnomAD v4 |
| 3 | g.30688401C>A | CA351809224 | TGFBR2 | c.1414C>A (p.Pro472Thr) n.298C>A n.3010C>A n.292C>A c.1489C>A (p.Pro497Thr) c.1441C>A (p.Pro481Thr) c.1366C>A (p.Pro456Thr) c.1309C>A (p.Pro437Thr) | dbSNP |
| 3 | g.30688401C>G | CA351809225 | TGFBR2 | c.1414C>G (p.Pro472Ala) n.298C>G n.3010C>G n.292C>G c.1489C>G (p.Pro497Ala) c.1441C>G (p.Pro481Ala) c.1366C>G (p.Pro456Ala) c.1309C>G (p.Pro437Ala) | dbSNP |
| 3 | g.30688401C>T | CA351809226 | TGFBR2 | c.1414C>T (p.Pro472Ser) n.298C>T n.3010C>T n.292C>T c.1489C>T (p.Pro497Ser) c.1441C>T (p.Pro481Ser) c.1366C>T (p.Pro456Ser) c.1309C>T (p.Pro437Ser) | dbSNP |
| 3 | g.30688402C>A | CA351809228 | TGFBR2 | c.1415C>A (p.Pro472His) n.299C>A n.3011C>A n.293C>A c.1490C>A (p.Pro497His) c.1442C>A (p.Pro481His) c.1367C>A (p.Pro456His) c.1310C>A (p.Pro437His) | dbSNP |
| 3 | g.30688402C= | CA1354880326 | TGFBR2 | c.1415C= (p.Pro472=) n.299C= n.3011C= n.293C= c.1490C= (p.Pro497=) c.1442C= (p.Pro481=) c.1367C= (p.Pro456=) c.1310C= (p.Pro437=) | |
| 3 | g.30688402C>G | CA351809229 | TGFBR2 | c.1415C>G (p.Pro472Arg) n.299C>G n.3011C>G n.293C>G c.1490C>G (p.Pro497Arg) c.1442C>G (p.Pro481Arg) c.1367C>G (p.Pro456Arg) c.1310C>G (p.Pro437Arg) | |
| 3 | g.30688402C>T | CA351809227 | TGFBR2 | c.1415C>T (p.Pro472Leu) n.299C>T n.3011C>T n.293C>T c.1490C>T (p.Pro497Leu) c.1442C>T (p.Pro481Leu) c.1367C>T (p.Pro456Leu) c.1310C>T (p.Pro437Leu) | dbSNP |
| 3 | g.30688403T>A | CA432917799 | TGFBR2 | c.1416T>A (p.Pro472=) n.300T>A n.3012T>A n.294T>A c.1491T>A (p.Pro497=) c.1443T>A (p.Pro481=) c.1368T>A (p.Pro456=) c.1311T>A (p.Pro437=) | dbSNP |
| 3 | g.30688403T>C | CA432917800 | TGFBR2 | c.1416T>C (p.Pro472=) n.300T>C n.3012T>C n.294T>C c.1491T>C (p.Pro497=) c.1443T>C (p.Pro481=) c.1368T>C (p.Pro456=) c.1311T>C (p.Pro437=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30688403T>G | CA432917801 | TGFBR2 | c.1416T>G (p.Pro472=) n.300T>G n.3012T>G n.294T>G c.1491T>G (p.Pro497=) c.1443T>G (p.Pro481=) c.1368T>G (p.Pro456=) c.1311T>G (p.Pro437=) | |
| 3 | g.30688404C>A | CA351809231 | TGFBR2 | c.1417C>A (p.Pro473Thr) n.301C>A n.3013C>A n.295C>A c.1492C>A (p.Pro498Thr) c.1444C>A (p.Pro482Thr) c.1369C>A (p.Pro457Thr) c.1312C>A (p.Pro438Thr) | |
| 3 | g.30688404C>G | CA351809230 | TGFBR2 | c.1417C>G (p.Pro473Ala) n.301C>G n.3013C>G n.295C>G c.1492C>G (p.Pro498Ala) c.1444C>G (p.Pro482Ala) c.1369C>G (p.Pro457Ala) c.1312C>G (p.Pro438Ala) | dbSNP |
| 3 | g.30688404C>T | CA351809232 | TGFBR2 | c.1417C>T (p.Pro473Ser) n.301C>T n.3013C>T n.295C>T c.1492C>T (p.Pro498Ser) c.1444C>T (p.Pro482Ser) c.1369C>T (p.Pro457Ser) c.1312C>T (p.Pro438Ser) | ClinVar dbSNP |
| 3 | g.30688405C>A | CA020679 | TGFBR2 | c.1418C>A (p.Pro473Gln) n.302C>A n.3014C>A n.296C>A c.1493C>A (p.Pro498Gln) c.1445C>A (p.Pro482Gln) c.1370C>A (p.Pro457Gln) c.1313C>A (p.Pro438Gln) | ClinVar dbSNP |
| 3 | g.30688405C= | CA1354880327 | TGFBR2 | c.1418C= (p.Pro473=) n.302C= n.3014C= n.296C= c.1493C= (p.Pro498=) c.1445C= (p.Pro482=) c.1370C= (p.Pro457=) c.1313C= (p.Pro438=) | |
| 3 | g.30688405C>G | CA351809233 | TGFBR2 | c.1418C>G (p.Pro473Arg) n.302C>G n.3014C>G n.296C>G c.1493C>G (p.Pro498Arg) c.1445C>G (p.Pro482Arg) c.1370C>G (p.Pro457Arg) c.1313C>G (p.Pro438Arg) | |
| 3 | g.30688405C>T | CA322002 | TGFBR2 | c.1418C>T (p.Pro473Leu) n.302C>T n.3014C>T n.296C>T c.1493C>T (p.Pro498Leu) c.1445C>T (p.Pro482Leu) c.1370C>T (p.Pro457Leu) c.1313C>T (p.Pro438Leu) | ClinVar dbSNP |
| 3 | g.30688406del | CA2759533396 | TGFBR2 | c.1419del (p.Phe474LeufsTer14) n.303del n.3015del n.297del c.1494del (p.Phe499LeufsTer14) c.1446del (p.Phe483LeufsTer14) c.1371del (p.Phe458LeufsTer14) c.1314del (p.Phe439LeufsTer14) | |
| 3 | g.30688406A= | CA1354880328 | TGFBR2 | c.1419A= (p.Pro473=) n.303A= n.3015A= n.297A= c.1494A= (p.Pro498=) c.1446A= (p.Pro482=) c.1371A= (p.Pro457=) c.1314A= (p.Pro438=) | |
| 3 | g.30688406A>C | CA432917802 | TGFBR2 | c.1419A>C (p.Pro473=) n.303A>C n.3015A>C n.297A>C c.1494A>C (p.Pro498=) c.1446A>C (p.Pro482=) c.1371A>C (p.Pro457=) c.1314A>C (p.Pro438=) | |
| 3 | g.30688406A>G | CA432917803 | TGFBR2 | c.1419A>G (p.Pro473=) n.303A>G n.3015A>G n.297A>G c.1494A>G (p.Pro498=) c.1446A>G (p.Pro482=) c.1371A>G (p.Pro457=) c.1314A>G (p.Pro438=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30688406A>T | CA432917804 | TGFBR2 | c.1419A>T (p.Pro473=) n.303A>T n.3015A>T n.297A>T c.1494A>T (p.Pro498=) c.1446A>T (p.Pro482=) c.1371A>T (p.Pro457=) c.1314A>T (p.Pro438=) | dbSNP |
| 3 | g.30688407T>A | CA351809234 | TGFBR2 | c.1420T>A (p.Phe474Ile) n.304T>A n.3016T>A n.298T>A c.1495T>A (p.Phe499Ile) c.1447T>A (p.Phe483Ile) c.1372T>A (p.Phe458Ile) c.1315T>A (p.Phe439Ile) | |
| 3 | g.30688407T>C | CA351809235 | TGFBR2 | c.1420T>C (p.Phe474Leu) n.304T>C n.3016T>C n.298T>C c.1495T>C (p.Phe499Leu) c.1447T>C (p.Phe483Leu) c.1372T>C (p.Phe458Leu) c.1315T>C (p.Phe439Leu) | dbSNP |
| 3 | g.30688407T>G | CA351809236 | TGFBR2 | c.1420T>G (p.Phe474Val) n.304T>G n.3016T>G n.298T>G c.1495T>G (p.Phe499Val) c.1447T>G (p.Phe483Val) c.1372T>G (p.Phe458Val) c.1315T>G (p.Phe439Val) | |
| 3 | g.30688408T>A | CA351809237 | TGFBR2 | c.1421T>A (p.Phe474Tyr) n.305T>A n.3017T>A n.299T>A c.1496T>A (p.Phe499Tyr) c.1448T>A (p.Phe483Tyr) c.1373T>A (p.Phe458Tyr) c.1316T>A (p.Phe439Tyr) | |
| 3 | g.30688408T>C | CA351809238 | TGFBR2 | c.1421T>C (p.Phe474Ser) n.305T>C n.3017T>C n.299T>C c.1496T>C (p.Phe499Ser) c.1448T>C (p.Phe483Ser) c.1373T>C (p.Phe458Ser) c.1316T>C (p.Phe439Ser) | |
| 3 | g.30688408T>G | CA351809239 | TGFBR2 | c.1421T>G (p.Phe474Cys) n.305T>G n.3017T>G n.299T>G c.1496T>G (p.Phe499Cys) c.1448T>G (p.Phe483Cys) c.1373T>G (p.Phe458Cys) c.1316T>G (p.Phe439Cys) | |
| 3 | g.30688409T>A | CA351809240 | TGFBR2 | c.1422T>A (p.Phe474Leu) n.306T>A n.3018T>A n.300T>A c.1497T>A (p.Phe499Leu) c.1449T>A (p.Phe483Leu) c.1374T>A (p.Phe458Leu) c.1317T>A (p.Phe439Leu) | |
| 3 | g.30688409T>C | CA432917805 | TGFBR2 | c.1422T>C (p.Phe474=) n.306T>C n.3018T>C n.300T>C c.1497T>C (p.Phe499=) c.1449T>C (p.Phe483=) c.1374T>C (p.Phe458=) c.1317T>C (p.Phe439=) | |
| 3 | g.30688409T>G | CA351809241 | TGFBR2 | c.1422T>G (p.Phe474Leu) n.306T>G n.3018T>G n.300T>G c.1497T>G (p.Phe499Leu) c.1449T>G (p.Phe483Leu) c.1374T>G (p.Phe458Leu) c.1317T>G (p.Phe439Leu) | |
| 3 | g.30688410G>A | CA71543602 | TGFBR2 | c.1423G>A (p.Gly475Ser) n.307G>A n.3019G>A n.301G>A c.1498G>A (p.Gly500Ser) c.1450G>A (p.Gly484Ser) c.1375G>A (p.Gly459Ser) c.1318G>A (p.Gly440Ser) | dbSNP |
| 3 | g.30688410G>C | CA351809242 | TGFBR2 | c.1423G>C (p.Gly475Arg) n.307G>C n.3019G>C n.301G>C c.1498G>C (p.Gly500Arg) c.1450G>C (p.Gly484Arg) c.1375G>C (p.Gly459Arg) c.1318G>C (p.Gly440Arg) | dbSNP |
| 3 | g.30688410G= | CA1354880329 | TGFBR2 | c.1423G= (p.Gly475=) n.307G= n.3019G= n.301G= c.1498G= (p.Gly500=) c.1450G= (p.Gly484=) c.1375G= (p.Gly459=) c.1318G= (p.Gly440=) | |
| 3 | g.30688410G>T | CA351809243 | TGFBR2 | c.1423G>T (p.Gly475Cys) n.307G>T n.3019G>T n.301G>T c.1498G>T (p.Gly500Cys) c.1450G>T (p.Gly484Cys) c.1375G>T (p.Gly459Cys) c.1318G>T (p.Gly440Cys) | dbSNP gnomAD v4 |
| 3 | g.30688411G>A | CA351809246 | TGFBR2 | c.1424G>A (p.Gly475Asp) n.308G>A n.3020G>A n.302G>A c.1499G>A (p.Gly500Asp) c.1451G>A (p.Gly484Asp) c.1376G>A (p.Gly459Asp) c.1319G>A (p.Gly440Asp) | dbSNP |
| 3 | g.30688411G>C | CA351809244 | TGFBR2 | c.1424G>C (p.Gly475Ala) n.308G>C n.3020G>C n.302G>C c.1499G>C (p.Gly500Ala) c.1451G>C (p.Gly484Ala) c.1376G>C (p.Gly459Ala) c.1319G>C (p.Gly440Ala) | dbSNP |
| 3 | g.30688411G>T | CA351809245 | TGFBR2 | c.1424G>T (p.Gly475Val) n.308G>T n.3020G>T n.302G>T c.1499G>T (p.Gly500Val) c.1451G>T (p.Gly484Val) c.1376G>T (p.Gly459Val) c.1319G>T (p.Gly440Val) | dbSNP |
| 3 | g.30688412T>A | CA432917806 | TGFBR2 | c.1425T>A (p.Gly475=) n.309T>A n.3021T>A n.303T>A c.1500T>A (p.Gly500=) c.1452T>A (p.Gly484=) c.1377T>A (p.Gly459=) c.1320T>A (p.Gly440=) | dbSNP |
| 3 | g.30688412T>C | CA432917807 | TGFBR2 | c.1425T>C (p.Gly475=) n.309T>C n.3021T>C n.303T>C c.1500T>C (p.Gly500=) c.1452T>C (p.Gly484=) c.1377T>C (p.Gly459=) c.1320T>C (p.Gly440=) | dbSNP |
| 3 | g.30688412T>G | CA432917808 | TGFBR2 | c.1425T>G (p.Gly475=) n.309T>G n.3021T>G n.303T>G c.1500T>G (p.Gly500=) c.1452T>G (p.Gly484=) c.1377T>G (p.Gly459=) c.1320T>G (p.Gly440=) | dbSNP |
| 3 | g.30688412T= | CA1354880330 | TGFBR2 | c.1425T= (p.Gly475=) n.309T= n.3021T= n.303T= c.1500T= (p.Gly500=) c.1452T= (p.Gly484=) c.1377T= (p.Gly459=) c.1320T= (p.Gly440=) | |
| 3 | g.30688413T>A | CA351809247 | TGFBR2 | c.1426T>A (p.Ser476Thr) n.310T>A n.3022T>A n.304T>A c.1501T>A (p.Ser501Thr) c.1453T>A (p.Ser485Thr) c.1378T>A (p.Ser460Thr) c.1321T>A (p.Ser441Thr) | dbSNP |
| 3 | g.30688413T>C | CA351809248 | TGFBR2 | c.1426T>C (p.Ser476Pro) n.310T>C n.3022T>C n.304T>C c.1501T>C (p.Ser501Pro) c.1453T>C (p.Ser485Pro) c.1378T>C (p.Ser460Pro) c.1321T>C (p.Ser441Pro) | dbSNP |
| 3 | g.30688413T>G | CA351809249 | TGFBR2 | c.1426T>G (p.Ser476Ala) n.310T>G n.3022T>G n.304T>G c.1501T>G (p.Ser501Ala) c.1453T>G (p.Ser485Ala) c.1378T>G (p.Ser460Ala) c.1321T>G (p.Ser441Ala) | |
| 3 | g.30688414C>A | CA351809250 | TGFBR2 | c.1427C>A (p.Ser476Tyr) n.311C>A n.3023C>A n.305C>A c.1502C>A (p.Ser501Tyr) c.1454C>A (p.Ser485Tyr) c.1379C>A (p.Ser460Tyr) c.1322C>A (p.Ser441Tyr) | dbSNP |
| 3 | g.30688414C= | CA1354880331 | TGFBR2 | c.1427C= (p.Ser476=) n.311C= n.3023C= n.305C= c.1502C= (p.Ser501=) c.1454C= (p.Ser485=) c.1379C= (p.Ser460=) c.1322C= (p.Ser441=) | |
| 3 | g.30688414C>G | CA351809251 | TGFBR2 | c.1427C>G (p.Ser476Cys) n.311C>G n.3023C>G n.305C>G c.1502C>G (p.Ser501Cys) c.1454C>G (p.Ser485Cys) c.1379C>G (p.Ser460Cys) c.1322C>G (p.Ser441Cys) | dbSNP |
| 3 | g.30688414C>T | CA046560 | TGFBR2 | c.1427C>T (p.Ser476Phe) n.311C>T n.3023C>T n.305C>T c.1502C>T (p.Ser501Phe) c.1454C>T (p.Ser485Phe) c.1379C>T (p.Ser460Phe) c.1322C>T (p.Ser441Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30688415C>A | CA432917809 | TGFBR2 | c.1428C>A (p.Ser476=) n.312C>A n.3024C>A n.306C>A c.1503C>A (p.Ser501=) c.1455C>A (p.Ser485=) c.1380C>A (p.Ser460=) c.1323C>A (p.Ser441=) | |
| 3 | g.30688415C= | CA1354880332 | TGFBR2 | c.1428C= (p.Ser476=) n.312C= n.3024C= n.306C= c.1503C= (p.Ser501=) c.1455C= (p.Ser485=) c.1380C= (p.Ser460=) c.1323C= (p.Ser441=) | |
| 3 | g.30688415C>G | CA432917810 | TGFBR2 | c.1428C>G (p.Ser476=) n.312C>G n.3024C>G n.306C>G c.1503C>G (p.Ser501=) c.1455C>G (p.Ser485=) c.1380C>G (p.Ser460=) c.1323C>G (p.Ser441=) | |
| 3 | g.30688415C>T | CA046568 | TGFBR2 | c.1428C>T (p.Ser476=) n.312C>T n.3024C>T n.306C>T c.1503C>T (p.Ser501=) c.1455C>T (p.Ser485=) c.1380C>T (p.Ser460=) c.1323C>T (p.Ser441=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30688416A>C | CA351809252 | TGFBR2 | c.1429A>C (p.Lys477Gln) n.313A>C n.3025A>C n.307A>C c.1504A>C (p.Lys502Gln) c.1456A>C (p.Lys486Gln) c.1381A>C (p.Lys461Gln) c.1324A>C (p.Lys442Gln) | |
| 3 | g.30688416A>G | CA351809253 | TGFBR2 | c.1429A>G (p.Lys477Glu) n.313A>G n.3025A>G n.307A>G c.1504A>G (p.Lys502Glu) c.1456A>G (p.Lys486Glu) c.1381A>G (p.Lys461Glu) c.1324A>G (p.Lys442Glu) | dbSNP |
| 3 | g.30688416A>T | CA351809254 | TGFBR2 | c.1429A>T (p.Lys477Ter) n.313A>T n.3025A>T n.307A>T c.1504A>T (p.Lys502Ter) c.1456A>T (p.Lys486Ter) c.1381A>T (p.Lys461Ter) c.1324A>T (p.Lys442Ter) | dbSNP |
| 3 | g.30688417A>C | CA351809256 | TGFBR2 | c.1430A>C (p.Lys477Thr) n.314A>C n.3026A>C n.308A>C c.1505A>C (p.Lys502Thr) c.1457A>C (p.Lys486Thr) c.1382A>C (p.Lys461Thr) c.1325A>C (p.Lys442Thr) | |
| 3 | g.30688417A>G | CA351809257 | TGFBR2 | c.1430A>G (p.Lys477Arg) n.314A>G n.3026A>G n.308A>G c.1505A>G (p.Lys502Arg) c.1457A>G (p.Lys486Arg) c.1382A>G (p.Lys461Arg) c.1325A>G (p.Lys442Arg) | dbSNP |
| 3 | g.30688417A>T | CA351809255 | TGFBR2 | c.1430A>T (p.Lys477Met) n.314A>T n.3026A>T n.308A>T c.1505A>T (p.Lys502Met) c.1457A>T (p.Lys486Met) c.1382A>T (p.Lys461Met) c.1325A>T (p.Lys442Met) | dbSNP |
| 3 | g.30688418G>A | CA432917811 | TGFBR2 | c.1431G>A (p.Lys477=) n.315G>A n.3027G>A n.309G>A c.1506G>A (p.Lys502=) c.1458G>A (p.Lys486=) c.1383G>A (p.Lys461=) c.1326G>A (p.Lys442=) | ClinVar gnomAD v4 COSMIC COSMIC |
| 3 | g.30688418G>C | CA351809258 | TGFBR2 | c.1431G>C (p.Lys477Asn) n.315G>C n.3027G>C n.309G>C c.1506G>C (p.Lys502Asn) c.1458G>C (p.Lys486Asn) c.1383G>C (p.Lys461Asn) c.1326G>C (p.Lys442Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30688418G= | CA1354880333 | TGFBR2 | c.1431G= (p.Lys477=) n.315G= n.3027G= n.309G= c.1506G= (p.Lys502=) c.1458G= (p.Lys486=) c.1383G= (p.Lys461=) c.1326G= (p.Lys442=) | |
| 3 | g.30688418G>T | CA351809259 | TGFBR2 | c.1431G>T (p.Lys477Asn) n.315G>T n.3027G>T n.309G>T c.1506G>T (p.Lys502Asn) c.1458G>T (p.Lys486Asn) c.1383G>T (p.Lys461Asn) c.1326G>T (p.Lys442Asn) | dbSNP |
| 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) | ClinVar 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) | ClinVar 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) |