| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30674144T>A | CA351808945 | TGFBR2 | c.1294T>A (p.Ser432Thr) n.2890T>A n.172T>A c.1369T>A (p.Ser457Thr) c.1321T>A (p.Ser441Thr) c.1246T>A (p.Ser416Thr) c.1189T>A (p.Ser397Thr) | dbSNP |
| 3 | g.30674144T>C | CA351808946 | TGFBR2 | c.1294T>C (p.Ser432Pro) n.2890T>C n.172T>C c.1369T>C (p.Ser457Pro) c.1321T>C (p.Ser441Pro) c.1246T>C (p.Ser416Pro) c.1189T>C (p.Ser397Pro) | |
| 3 | g.30674144T>G | CA351808947 | TGFBR2 | c.1294T>G (p.Ser432Ala) n.2890T>G n.172T>G c.1369T>G (p.Ser457Ala) c.1321T>G (p.Ser441Ala) c.1246T>G (p.Ser416Ala) c.1189T>G (p.Ser397Ala) | dbSNP |
| 3 | g.30674145C>A | CA351808948 | TGFBR2 | c.1295C>A (p.Ser432Tyr) n.2891C>A n.173C>A c.1370C>A (p.Ser457Tyr) c.1322C>A (p.Ser441Tyr) c.1247C>A (p.Ser416Tyr) c.1190C>A (p.Ser397Tyr) | dbSNP |
| 3 | g.30674145C>G | CA351808950 | TGFBR2 | c.1295C>G (p.Ser432Cys) n.2891C>G n.173C>G c.1370C>G (p.Ser457Cys) c.1322C>G (p.Ser441Cys) c.1247C>G (p.Ser416Cys) c.1190C>G (p.Ser397Cys) | dbSNP |
| 3 | g.30674145C>T | CA351808949 | TGFBR2 | c.1295C>T (p.Ser432Phe) n.2891C>T n.173C>T c.1370C>T (p.Ser457Phe) c.1322C>T (p.Ser441Phe) c.1247C>T (p.Ser416Phe) c.1190C>T (p.Ser397Phe) | dbSNP |
| 3 | g.30674146C>A | CA432917711 | TGFBR2 | c.1296C>A (p.Ser432=) n.2892C>A n.174C>A c.1371C>A (p.Ser457=) c.1323C>A (p.Ser441=) c.1248C>A (p.Ser416=) c.1191C>A (p.Ser397=) | |
| 3 | g.30674146C>G | CA432917713 | TGFBR2 | c.1296C>G (p.Ser432=) n.2892C>G n.174C>G c.1371C>G (p.Ser457=) c.1323C>G (p.Ser441=) c.1248C>G (p.Ser416=) c.1191C>G (p.Ser397=) | dbSNP gnomAD v4 |
| 3 | g.30674146C>T | CA432917712 | TGFBR2 | c.1296C>T (p.Ser432=) n.2892C>T n.174C>T c.1371C>T (p.Ser457=) c.1323C>T (p.Ser441=) c.1248C>T (p.Ser416=) c.1191C>T (p.Ser397=) | ClinVar dbSNP |
| 3 | g.30674147A= | CA1354874005 | TGFBR2 | c.1297A= (p.Arg433=) n.2893A= n.175A= c.1372A= (p.Arg458=) c.1324A= (p.Arg442=) c.1249A= (p.Arg417=) c.1192A= (p.Arg398=) | |
| 3 | g.30674147A>C | CA432917714 | TGFBR2 | c.1297A>C (p.Arg433=) n.2893A>C n.175A>C c.1372A>C (p.Arg458=) c.1324A>C (p.Arg442=) c.1249A>C (p.Arg417=) c.1192A>C (p.Arg398=) | |
| 3 | g.30674147A>G | CA351808951 | TGFBR2 | c.1297A>G (p.Arg433Gly) n.2893A>G n.175A>G c.1372A>G (p.Arg458Gly) c.1324A>G (p.Arg442Gly) c.1249A>G (p.Arg417Gly) c.1192A>G (p.Arg398Gly) | dbSNP gnomAD v4 |
| 3 | g.30674147A>T | CA351808952 | TGFBR2 | c.1297A>T (p.Arg433Trp) n.2893A>T n.175A>T c.1372A>T (p.Arg458Trp) c.1324A>T (p.Arg442Trp) c.1249A>T (p.Arg417Trp) c.1192A>T (p.Arg398Trp) | dbSNP |
| 3 | g.30674148G>A | CA351808953 | TGFBR2 | c.1298G>A (p.Arg433Lys) n.2894G>A n.176G>A c.1373G>A (p.Arg458Lys) c.1325G>A (p.Arg442Lys) c.1250G>A (p.Arg417Lys) c.1193G>A (p.Arg398Lys) | dbSNP gnomAD v4 |
| 3 | g.30674148G>C | CA351808954 | TGFBR2 | c.1298G>C (p.Arg433Thr) n.2894G>C n.176G>C c.1373G>C (p.Arg458Thr) c.1325G>C (p.Arg442Thr) c.1250G>C (p.Arg417Thr) c.1193G>C (p.Arg398Thr) | ClinVar dbSNP |
| 3 | g.30674148G= | CA1354874006 | TGFBR2 | c.1298G= (p.Arg433=) n.2894G= n.176G= c.1373G= (p.Arg458=) c.1325G= (p.Arg442=) c.1250G= (p.Arg417=) c.1193G= (p.Arg398=) | |
| 3 | g.30674148G>T | CA351808955 | TGFBR2 | c.1298G>T (p.Arg433Met) n.2894G>T n.176G>T c.1373G>T (p.Arg458Met) c.1325G>T (p.Arg442Met) c.1250G>T (p.Arg417Met) c.1193G>T (p.Arg398Met) | dbSNP |
| 3 | g.30674149G>A | CA432917715 | TGFBR2 | c.1299G>A (p.Arg433=) n.2895G>A n.177G>A c.1374G>A (p.Arg458=) c.1326G>A (p.Arg442=) c.1251G>A (p.Arg417=) c.1194G>A (p.Arg398=) | ClinVar dbSNP |
| 3 | g.30674149G>C | CA351808956 | TGFBR2 | c.1299G>C (p.Arg433Ser) n.2895G>C n.177G>C c.1374G>C (p.Arg458Ser) c.1326G>C (p.Arg442Ser) c.1251G>C (p.Arg417Ser) c.1194G>C (p.Arg398Ser) | dbSNP |
| 3 | g.30674149G>T | CA351808957 | TGFBR2 | c.1299G>T (p.Arg433Ser) n.2895G>T n.177G>T c.1374G>T (p.Arg458Ser) c.1326G>T (p.Arg442Ser) c.1251G>T (p.Arg417Ser) c.1194G>T (p.Arg398Ser) | dbSNP |
| 3 | g.30674150A= | CA1354874007 | TGFBR2 | c.1300A= (p.Met434=) n.2896A= n.178A= c.1375A= (p.Met459=) c.1327A= (p.Met443=) c.1252A= (p.Met418=) c.1195A= (p.Met399=) | |
| 3 | g.30674150A>C | CA351808958 | TGFBR2 | c.1300A>C (p.Met434Leu) n.2896A>C n.178A>C c.1375A>C (p.Met459Leu) c.1327A>C (p.Met443Leu) c.1252A>C (p.Met418Leu) c.1195A>C (p.Met399Leu) | |
| 3 | g.30674150A>G | CA351808959 | TGFBR2 | c.1300A>G (p.Met434Val) n.2896A>G n.178A>G c.1375A>G (p.Met459Val) c.1327A>G (p.Met443Val) c.1252A>G (p.Met418Val) c.1195A>G (p.Met399Val) | dbSNP |
| 3 | g.30674150A>T | CA351808960 | TGFBR2 | c.1300A>T (p.Met434Leu) n.2896A>T n.178A>T c.1375A>T (p.Met459Leu) c.1327A>T (p.Met443Leu) c.1252A>T (p.Met418Leu) c.1195A>T (p.Met399Leu) | ClinVar |
| 3 | g.30674151T>A | CA351808961 | TGFBR2 | c.1301T>A (p.Met434Lys) n.2897T>A n.179T>A c.1376T>A (p.Met459Lys) c.1328T>A (p.Met443Lys) c.1253T>A (p.Met418Lys) c.1196T>A (p.Met399Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30674151T>C | CA351808962 | TGFBR2 | c.1301T>C (p.Met434Thr) n.2897T>C n.179T>C c.1376T>C (p.Met459Thr) c.1328T>C (p.Met443Thr) c.1253T>C (p.Met418Thr) c.1196T>C (p.Met399Thr) | ClinVar dbSNP |
| 3 | g.30674151T>G | CA351808963 | TGFBR2 | c.1301T>G (p.Met434Arg) n.2897T>G n.179T>G c.1376T>G (p.Met459Arg) c.1328T>G (p.Met443Arg) c.1253T>G (p.Met418Arg) c.1196T>G (p.Met399Arg) | dbSNP |
| 3 | g.30674151T= | CA1354874008 | TGFBR2 | c.1301T= (p.Met434=) n.2897T= n.179T= c.1376T= (p.Met459=) c.1328T= (p.Met443=) c.1253T= (p.Met418=) c.1196T= (p.Met399=) | |
| 3 | g.30674152G>A | CA351808964 | TGFBR2 | c.1302G>A (p.Met434Ile) n.2898G>A n.180G>A c.1377G>A (p.Met459Ile) c.1329G>A (p.Met443Ile) c.1254G>A (p.Met418Ile) c.1197G>A (p.Met399Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30674152G>C | CA351808966 | TGFBR2 | c.1302G>C (p.Met434Ile) n.2898G>C n.180G>C c.1377G>C (p.Met459Ile) c.1329G>C (p.Met443Ile) c.1254G>C (p.Met418Ile) c.1197G>C (p.Met399Ile) | dbSNP |
| 3 | g.30674152G>T | CA351808965 | TGFBR2 | c.1302G>T (p.Met434Ile) n.2898G>T n.180G>T c.1377G>T (p.Met459Ile) c.1329G>T (p.Met443Ile) c.1254G>T (p.Met418Ile) c.1197G>T (p.Met399Ile) | dbSNP |
| 3 | g.30674153A= | CA1354874009 | TGFBR2 | c.1303A= (p.Asn435=) n.2899A= n.181A= c.1378A= (p.Asn460=) c.1330A= (p.Asn444=) c.1255A= (p.Asn419=) c.1198A= (p.Asn400=) | |
| 3 | g.30674153A>C | CA351808967 | TGFBR2 | c.1303A>C (p.Asn435His) n.2899A>C n.181A>C c.1378A>C (p.Asn460His) c.1330A>C (p.Asn444His) c.1255A>C (p.Asn419His) c.1198A>C (p.Asn400His) | |
| 3 | g.30674153A>G | CA351808968 | TGFBR2 | c.1303A>G (p.Asn435Asp) n.2899A>G n.181A>G c.1378A>G (p.Asn460Asp) c.1330A>G (p.Asn444Asp) c.1255A>G (p.Asn419Asp) c.1198A>G (p.Asn400Asp) | dbSNP |
| 3 | g.30674153A>T | CA351808969 | TGFBR2 | c.1303A>T (p.Asn435Tyr) n.2899A>T n.181A>T c.1378A>T (p.Asn460Tyr) c.1330A>T (p.Asn444Tyr) c.1255A>T (p.Asn419Tyr) c.1198A>T (p.Asn400Tyr) | |
| 3 | g.30674154A>C | CA351808970 | TGFBR2 | c.1304A>C (p.Asn435Thr) n.2900A>C n.182A>C c.1379A>C (p.Asn460Thr) c.1331A>C (p.Asn444Thr) c.1256A>C (p.Asn419Thr) c.1199A>C (p.Asn400Thr) | |
| 3 | g.30674154A>G | CA351808971 | TGFBR2 | c.1304A>G (p.Asn435Ser) n.2900A>G n.182A>G c.1379A>G (p.Asn460Ser) c.1331A>G (p.Asn444Ser) c.1256A>G (p.Asn419Ser) c.1199A>G (p.Asn400Ser) | |
| 3 | g.30674154A>T | CA351808972 | TGFBR2 | c.1304A>T (p.Asn435Ile) n.2900A>T n.182A>T c.1379A>T (p.Asn460Ile) c.1331A>T (p.Asn444Ile) c.1256A>T (p.Asn419Ile) c.1199A>T (p.Asn400Ile) | dbSNP |
| 3 | g.30674155T>A | CA351808973 | TGFBR2 | c.1305T>A (p.Asn435Lys) n.2901T>A n.183T>A c.1380T>A (p.Asn460Lys) c.1332T>A (p.Asn444Lys) c.1257T>A (p.Asn419Lys) c.1200T>A (p.Asn400Lys) | ClinVar dbSNP |
| 3 | g.30674155T>C | CA432917716 | TGFBR2 | c.1305T>C (p.Asn435=) n.2901T>C n.183T>C c.1380T>C (p.Asn460=) c.1332T>C (p.Asn444=) c.1257T>C (p.Asn419=) c.1200T>C (p.Asn400=) | |
| 3 | g.30674155T>G | CA351808974 | TGFBR2 | c.1305T>G (p.Asn435Lys) n.2901T>G n.183T>G c.1380T>G (p.Asn460Lys) c.1332T>G (p.Asn444Lys) c.1257T>G (p.Asn419Lys) c.1200T>G (p.Asn400Lys) | dbSNP |
| 3 | g.30674156T>A | CA351808975 | TGFBR2 | c.1306T>A (p.Leu436Met) n.2902T>A n.184T>A c.1381T>A (p.Leu461Met) c.1333T>A (p.Leu445Met) c.1258T>A (p.Leu420Met) c.1201T>A (p.Leu401Met) | dbSNP |
| 3 | g.30674156T>C | CA432917717 | TGFBR2 | c.1306T>C (p.Leu436=) n.2902T>C n.184T>C c.1381T>C (p.Leu461=) c.1333T>C (p.Leu445=) c.1258T>C (p.Leu420=) c.1201T>C (p.Leu401=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30674156T>G | CA351808976 | TGFBR2 | c.1306T>G (p.Leu436Val) n.2902T>G n.184T>G c.1381T>G (p.Leu461Val) c.1333T>G (p.Leu445Val) c.1258T>G (p.Leu420Val) c.1201T>G (p.Leu401Val) | |
| 3 | g.30674156T= | CA1354874010 | TGFBR2 | c.1306T= (p.Leu436=) n.2902T= n.184T= c.1381T= (p.Leu461=) c.1333T= (p.Leu445=) c.1258T= (p.Leu420=) c.1201T= (p.Leu401=) | |
| 3 | g.30674157T>A | CA351808978 | TGFBR2 | c.1307T>A (p.Leu436Ter) n.2903T>A n.185T>A c.1382T>A (p.Leu461Ter) c.1334T>A (p.Leu445Ter) c.1259T>A (p.Leu420Ter) c.1202T>A (p.Leu401Ter) | |
| 3 | g.30674157T>C | CA351808979 | TGFBR2 | c.1307T>C (p.Leu436Ser) n.2903T>C n.185T>C c.1382T>C (p.Leu461Ser) c.1334T>C (p.Leu445Ser) c.1259T>C (p.Leu420Ser) c.1202T>C (p.Leu401Ser) | ClinVar dbSNP |
| 3 | g.30674157T>G | CA351808977 | TGFBR2 | c.1307T>G (p.Leu436Trp) n.2903T>G n.185T>G c.1382T>G (p.Leu461Trp) c.1334T>G (p.Leu445Trp) c.1259T>G (p.Leu420Trp) c.1202T>G (p.Leu401Trp) | |
| 3 | g.30674158G>A | CA432917718 | TGFBR2 | c.1308G>A (p.Leu436=) n.2904G>A n.186G>A c.1383G>A (p.Leu461=) c.1335G>A (p.Leu445=) c.1260G>A (p.Leu420=) c.1203G>A (p.Leu401=) | ClinVar dbSNP |
| 3 | g.30674158G>C | CA351808981 | TGFBR2 | c.1308G>C (p.Leu436Phe) n.2904G>C n.186G>C c.1383G>C (p.Leu461Phe) c.1335G>C (p.Leu445Phe) c.1260G>C (p.Leu420Phe) c.1203G>C (p.Leu401Phe) | dbSNP |
| 3 | g.30674158G>T | CA351808980 | TGFBR2 | c.1308G>T (p.Leu436Phe) n.2904G>T n.186G>T c.1383G>T (p.Leu461Phe) c.1335G>T (p.Leu445Phe) c.1260G>T (p.Leu420Phe) c.1203G>T (p.Leu401Phe) | dbSNP |
| 3 | g.30674159G>A | CA351808982 | TGFBR2 | c.1309G>A (p.Glu437Lys) n.2905G>A n.187G>A c.1384G>A (p.Glu462Lys) c.1336G>A (p.Glu446Lys) c.1261G>A (p.Glu421Lys) c.1204G>A (p.Glu402Lys) | dbSNP |
| 3 | g.30674159G>C | CA351808983 | TGFBR2 | c.1309G>C (p.Glu437Gln) n.2905G>C n.187G>C c.1384G>C (p.Glu462Gln) c.1336G>C (p.Glu446Gln) c.1261G>C (p.Glu421Gln) c.1204G>C (p.Glu402Gln) | dbSNP |
| 3 | g.30674159G>T | CA351808984 | TGFBR2 | c.1309G>T (p.Glu437Ter) n.2905G>T n.187G>T c.1384G>T (p.Glu462Ter) c.1336G>T (p.Glu446Ter) c.1261G>T (p.Glu421Ter) c.1204G>T (p.Glu402Ter) | dbSNP COSMIC COSMIC |
| 3 | g.30674160A>C | CA351808985 | TGFBR2 | c.1310A>C (p.Glu437Ala) n.2906A>C n.188A>C c.1385A>C (p.Glu462Ala) c.1337A>C (p.Glu446Ala) c.1262A>C (p.Glu421Ala) c.1205A>C (p.Glu402Ala) | |
| 3 | g.30674160A>G | CA351808986 | TGFBR2 | c.1310A>G (p.Glu437Gly) n.2906A>G n.188A>G c.1385A>G (p.Glu462Gly) c.1337A>G (p.Glu446Gly) c.1262A>G (p.Glu421Gly) c.1205A>G (p.Glu402Gly) | |
| 3 | g.30674160A>T | CA351808987 | TGFBR2 | c.1310A>T (p.Glu437Val) n.2906A>T n.188A>T c.1385A>T (p.Glu462Val) c.1337A>T (p.Glu446Val) c.1262A>T (p.Glu421Val) c.1205A>T (p.Glu402Val) | |
| 3 | g.30674161G>A | CA432917719 | TGFBR2 | c.1311G>A (p.Glu437=) n.2907G>A n.189G>A c.1386G>A (p.Glu462=) c.1338G>A (p.Glu446=) c.1263G>A (p.Glu421=) c.1206G>A (p.Glu402=) | dbSNP |
| 3 | g.30674161G>C | CA351808988 | TGFBR2 | c.1311G>C (p.Glu437Asp) n.2907G>C n.189G>C c.1386G>C (p.Glu462Asp) c.1338G>C (p.Glu446Asp) c.1263G>C (p.Glu421Asp) c.1206G>C (p.Glu402Asp) | dbSNP |
| 3 | g.30674161G>T | CA351808989 | TGFBR2 | c.1311G>T (p.Glu437Asp) n.2907G>T n.189G>T c.1386G>T (p.Glu462Asp) c.1338G>T (p.Glu446Asp) c.1263G>T (p.Glu421Asp) c.1206G>T (p.Glu402Asp) | |
| 3 | g.30674162A>C | CA351808990 | TGFBR2 | c.1312A>C (p.Asn438His) n.2908A>C n.190A>C c.1387A>C (p.Asn463His) c.1339A>C (p.Asn447His) c.1264A>C (p.Asn422His) c.1207A>C (p.Asn403His) | |
| 3 | g.30674162A>G | CA351808991 | TGFBR2 | c.1312A>G (p.Asn438Asp) n.2908A>G n.190A>G c.1387A>G (p.Asn463Asp) c.1339A>G (p.Asn447Asp) c.1264A>G (p.Asn422Asp) c.1207A>G (p.Asn403Asp) | |
| 3 | g.30674162A>T | CA351808992 | TGFBR2 | c.1312A>T (p.Asn438Tyr) n.2908A>T n.190A>T c.1387A>T (p.Asn463Tyr) c.1339A>T (p.Asn447Tyr) c.1264A>T (p.Asn422Tyr) c.1207A>T (p.Asn403Tyr) | dbSNP |
| 3 | g.30674163A>C | CA351808995 | TGFBR2 | c.1313A>C (p.Asn438Thr) n.2909A>C n.191A>C c.1388A>C (p.Asn463Thr) c.1340A>C (p.Asn447Thr) c.1265A>C (p.Asn422Thr) c.1208A>C (p.Asn403Thr) | |
| 3 | g.30674163A>G | CA351808993 | TGFBR2 | c.1313A>G (p.Asn438Ser) n.2909A>G n.191A>G c.1388A>G (p.Asn463Ser) c.1340A>G (p.Asn447Ser) c.1265A>G (p.Asn422Ser) c.1208A>G (p.Asn403Ser) | gnomAD v4 |
| 3 | g.30674163A>T | CA351808994 | TGFBR2 | c.1313A>T (p.Asn438Ile) n.2909A>T n.191A>T c.1388A>T (p.Asn463Ile) c.1340A>T (p.Asn447Ile) c.1265A>T (p.Asn422Ile) c.1208A>T (p.Asn403Ile) | |
| 3 | g.30674164T>A | CA351808996 | TGFBR2 | c.1314T>A (p.Asn438Lys) n.2910T>A n.192T>A c.1389T>A (p.Asn463Lys) c.1341T>A (p.Asn447Lys) c.1266T>A (p.Asn422Lys) c.1209T>A (p.Asn403Lys) | |
| 3 | g.30674164T>C | CA046287 | TGFBR2 | c.1314T>C (p.Asn438=) n.2910T>C n.192T>C c.1389T>C (p.Asn463=) c.1341T>C (p.Asn447=) c.1266T>C (p.Asn422=) c.1209T>C (p.Asn403=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30674164T>G | CA351808997 | TGFBR2 | c.1314T>G (p.Asn438Lys) n.2910T>G n.192T>G c.1389T>G (p.Asn463Lys) c.1341T>G (p.Asn447Lys) c.1266T>G (p.Asn422Lys) c.1209T>G (p.Asn403Lys) | ClinVar dbSNP |
| 3 | g.30674164T= | CA1354874011 | TGFBR2 | c.1314T= (p.Asn438=) n.2910T= n.192T= c.1389T= (p.Asn463=) c.1341T= (p.Asn447=) c.1266T= (p.Asn422=) c.1209T= (p.Asn403=) | |
| 3 | g.30674165G>A | CA351808998 | TGFBR2 | c.1315G>A (p.Val439Ile) n.2911G>A n.193G>A c.1390G>A (p.Val464Ile) c.1342G>A (p.Val448Ile) c.1267G>A (p.Val423Ile) c.1210G>A (p.Val404Ile) | gnomAD v4 |
| 3 | g.30674165G>C | CA351808999 | TGFBR2 | c.1315G>C (p.Val439Leu) n.2911G>C n.193G>C c.1390G>C (p.Val464Leu) c.1342G>C (p.Val448Leu) c.1267G>C (p.Val423Leu) c.1210G>C (p.Val404Leu) | dbSNP |
| 3 | g.30674165G>T | CA351809000 | TGFBR2 | c.1315G>T (p.Val439Phe) n.2911G>T n.193G>T c.1390G>T (p.Val464Phe) c.1342G>T (p.Val448Phe) c.1267G>T (p.Val423Phe) c.1210G>T (p.Val404Phe) | |
| 3 | g.30674166T>A | CA351809001 | TGFBR2 | c.1316T>A (p.Val439Asp) n.2912T>A n.194T>A c.1391T>A (p.Val464Asp) c.1343T>A (p.Val448Asp) c.1268T>A (p.Val423Asp) c.1211T>A (p.Val404Asp) | dbSNP |
| 3 | g.30674166T>C | CA046294 | TGFBR2 | c.1316T>C (p.Val439Ala) n.2912T>C n.194T>C c.1391T>C (p.Val464Ala) c.1343T>C (p.Val448Ala) c.1268T>C (p.Val423Ala) c.1211T>C (p.Val404Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30674166T>G | CA351809002 | TGFBR2 | c.1316T>G (p.Val439Gly) n.2912T>G n.194T>G c.1391T>G (p.Val464Gly) c.1343T>G (p.Val448Gly) c.1268T>G (p.Val423Gly) c.1211T>G (p.Val404Gly) | dbSNP |
| 3 | g.30674166T= | CA1354874012 | TGFBR2 | c.1316T= (p.Val439=) n.2912T= n.194T= c.1391T= (p.Val464=) c.1343T= (p.Val448=) c.1268T= (p.Val423=) c.1211T= (p.Val404=) | |
| 3 | g.30674167T>A | CA432917720 | TGFBR2 | c.1317T>A (p.Val439=) n.2913T>A n.195T>A c.1392T>A (p.Val464=) c.1344T>A (p.Val448=) c.1269T>A (p.Val423=) c.1212T>A (p.Val404=) | |
| 3 | g.30674167T>C | CA432917721 | TGFBR2 | c.1317T>C (p.Val439=) n.2913T>C n.195T>C c.1392T>C (p.Val464=) c.1344T>C (p.Val448=) c.1269T>C (p.Val423=) c.1212T>C (p.Val404=) | gnomAD v4 |
| 3 | g.30674167T>G | CA432917722 | TGFBR2 | c.1317T>G (p.Val439=) n.2913T>G n.195T>G c.1392T>G (p.Val464=) c.1344T>G (p.Val448=) c.1269T>G (p.Val423=) c.1212T>G (p.Val404=) | |
| 3 | g.30674168G>A | CA351809003 | TGFBR2 | c.1318G>A (p.Glu440Lys) n.2914G>A n.196G>A c.1393G>A (p.Glu465Lys) c.1345G>A (p.Glu449Lys) c.1270G>A (p.Glu424Lys) c.1213G>A (p.Glu405Lys) | dbSNP |
| 3 | g.30674168G>C | CA351809004 | TGFBR2 | c.1318G>C (p.Glu440Gln) n.2914G>C n.196G>C c.1393G>C (p.Glu465Gln) c.1345G>C (p.Glu449Gln) c.1270G>C (p.Glu424Gln) c.1213G>C (p.Glu405Gln) | dbSNP |
| 3 | g.30674168G>T | CA351809005 | TGFBR2 | c.1318G>T (p.Glu440Ter) n.2914G>T n.196G>T c.1393G>T (p.Glu465Ter) c.1345G>T (p.Glu449Ter) c.1270G>T (p.Glu424Ter) c.1213G>T (p.Glu405Ter) | COSMIC COSMIC |
| 3 | g.30674169A= | CA1354874013 | TGFBR2 | c.1319A= (p.Glu440=) n.2915A= n.197A= c.1394A= (p.Glu465=) c.1346A= (p.Glu449=) c.1271A= (p.Glu424=) c.1214A= (p.Glu405=) | |
| 3 | g.30674169A>C | CA351809007 | TGFBR2 | c.1319A>C (p.Glu440Ala) n.2915A>C n.197A>C c.1394A>C (p.Glu465Ala) c.1346A>C (p.Glu449Ala) c.1271A>C (p.Glu424Ala) c.1214A>C (p.Glu405Ala) | ClinVar dbSNP |
| 3 | g.30674169A>G | CA351809008 | TGFBR2 | c.1319A>G (p.Glu440Gly) n.2915A>G n.197A>G c.1394A>G (p.Glu465Gly) c.1346A>G (p.Glu449Gly) c.1271A>G (p.Glu424Gly) c.1214A>G (p.Glu405Gly) | dbSNP |
| 3 | g.30674169A>T | CA351809006 | TGFBR2 | c.1319A>T (p.Glu440Val) n.2915A>T n.197A>T c.1394A>T (p.Glu465Val) c.1346A>T (p.Glu449Val) c.1271A>T (p.Glu424Val) c.1214A>T (p.Glu405Val) | dbSNP |
| 3 | g.30674170G>A | CA432917723 | TGFBR2 | c.1320G>A (p.Glu440=) n.2916G>A n.198G>A c.1395G>A (p.Glu465=) c.1347G>A (p.Glu449=) c.1272G>A (p.Glu424=) c.1215G>A (p.Glu405=) | dbSNP |
| 3 | g.30674170G>C | CA351809009 | TGFBR2 | c.1320G>C (p.Glu440Asp) n.2916G>C n.198G>C c.1395G>C (p.Glu465Asp) c.1347G>C (p.Glu449Asp) c.1272G>C (p.Glu424Asp) c.1215G>C (p.Glu405Asp) | dbSNP |
| 3 | g.30674170G>T | CA351809010 | TGFBR2 | c.1320G>T (p.Glu440Asp) n.2916G>T n.198G>T c.1395G>T (p.Glu465Asp) c.1347G>T (p.Glu449Asp) c.1272G>T (p.Glu424Asp) c.1215G>T (p.Glu405Asp) | |
| 3 | g.30674171T>A | CA351809011 | TGFBR2 | c.1321T>A (p.Ser441Thr) n.2917T>A n.199T>A c.1396T>A (p.Ser466Thr) c.1348T>A (p.Ser450Thr) c.1273T>A (p.Ser425Thr) c.1216T>A (p.Ser406Thr) | dbSNP |
| 3 | g.30674171T>C | CA351809012 | TGFBR2 | c.1321T>C (p.Ser441Pro) n.2917T>C n.199T>C c.1396T>C (p.Ser466Pro) c.1348T>C (p.Ser450Pro) c.1273T>C (p.Ser425Pro) c.1216T>C (p.Ser406Pro) | COSMIC COSMIC |
| 3 | g.30674171T>G | CA351809013 | TGFBR2 | c.1321T>G (p.Ser441Ala) n.2917T>G n.199T>G c.1396T>G (p.Ser466Ala) c.1348T>G (p.Ser450Ala) c.1273T>G (p.Ser425Ala) c.1216T>G (p.Ser406Ala) | |
| 3 | g.30674172C>A | CA351809014 | TGFBR2 | c.1322C>A (p.Ser441Tyr) n.2918C>A n.200C>A c.1397C>A (p.Ser466Tyr) c.1349C>A (p.Ser450Tyr) c.1274C>A (p.Ser425Tyr) c.1217C>A (p.Ser406Tyr) | ClinVar dbSNP |
| 3 | g.30674172C= | CA1354874014 | TGFBR2 | c.1322C= (p.Ser441=) n.2918C= n.200C= c.1397C= (p.Ser466=) c.1349C= (p.Ser450=) c.1274C= (p.Ser425=) c.1217C= (p.Ser406=) | |
| 3 | g.30674172C>G | CA351809015 | TGFBR2 | c.1322C>G (p.Ser441Cys) n.2918C>G n.200C>G c.1397C>G (p.Ser466Cys) c.1349C>G (p.Ser450Cys) c.1274C>G (p.Ser425Cys) c.1217C>G (p.Ser406Cys) | dbSNP |
| 3 | g.30674172C>T | CA351809016 | TGFBR2 | c.1322C>T (p.Ser441Phe) n.2918C>T n.200C>T c.1397C>T (p.Ser466Phe) c.1349C>T (p.Ser450Phe) c.1274C>T (p.Ser425Phe) c.1217C>T (p.Ser406Phe) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30674173C>A | CA432917724 | TGFBR2 | c.1323C>A (p.Ser441=) n.2919C>A n.201C>A c.1398C>A (p.Ser466=) c.1350C>A (p.Ser450=) c.1275C>A (p.Ser425=) c.1218C>A (p.Ser406=) | dbSNP |
| 3 | g.30674173C>G | CA432917725 | TGFBR2 | c.1323C>G (p.Ser441=) n.2919C>G n.201C>G c.1398C>G (p.Ser466=) c.1350C>G (p.Ser450=) c.1275C>G (p.Ser425=) c.1218C>G (p.Ser406=) | dbSNP |
| 3 | g.30674173C>T | CA432917726 | TGFBR2 | c.1323C>T (p.Ser441=) n.2919C>T n.201C>T c.1398C>T (p.Ser466=) c.1350C>T (p.Ser450=) c.1275C>T (p.Ser425=) c.1218C>T (p.Ser406=) | dbSNP |
| 3 | g.30674174T>A | CA351809017 | TGFBR2 | c.1324T>A (p.Phe442Ile) n.2920T>A n.202T>A c.1399T>A (p.Phe467Ile) c.1351T>A (p.Phe451Ile) c.1276T>A (p.Phe426Ile) c.1219T>A (p.Phe407Ile) | dbSNP |
| 3 | g.30674174T>C | CA351809018 | TGFBR2 | c.1324T>C (p.Phe442Leu) n.2920T>C n.202T>C c.1399T>C (p.Phe467Leu) c.1351T>C (p.Phe451Leu) c.1276T>C (p.Phe426Leu) c.1219T>C (p.Phe407Leu) | ClinVar dbSNP |
| 3 | g.30674174T>G | CA351809019 | TGFBR2 | c.1324T>G (p.Phe442Val) n.2920T>G n.202T>G c.1399T>G (p.Phe467Val) c.1351T>G (p.Phe451Val) c.1276T>G (p.Phe426Val) c.1219T>G (p.Phe407Val) | dbSNP |
| 3 | g.30674175T>A | CA351809020 | TGFBR2 | c.1325T>A (p.Phe442Tyr) n.2921T>A n.203T>A c.1400T>A (p.Phe467Tyr) c.1352T>A (p.Phe451Tyr) c.1277T>A (p.Phe426Tyr) c.1220T>A (p.Phe407Tyr) | dbSNP |
| 3 | g.30674175T>C | CA351809021 | TGFBR2 | c.1325T>C (p.Phe442Ser) n.2921T>C n.203T>C c.1400T>C (p.Phe467Ser) c.1352T>C (p.Phe451Ser) c.1277T>C (p.Phe426Ser) c.1220T>C (p.Phe407Ser) | COSMIC COSMIC |
| 3 | g.30674175T>G | CA351809022 | TGFBR2 | c.1325T>G (p.Phe442Cys) n.2921T>G n.203T>G c.1400T>G (p.Phe467Cys) c.1352T>G (p.Phe451Cys) c.1277T>G (p.Phe426Cys) c.1220T>G (p.Phe407Cys) | |
| 3 | g.30674176C>A | CA351809023 | TGFBR2 | c.1326C>A (p.Phe442Leu) n.2922C>A n.204C>A c.1401C>A (p.Phe467Leu) c.1353C>A (p.Phe451Leu) c.1278C>A (p.Phe426Leu) c.1221C>A (p.Phe407Leu) | dbSNP |
| 3 | g.30674176C>G | CA351809024 | TGFBR2 | c.1326C>G (p.Phe442Leu) n.2922C>G n.204C>G c.1401C>G (p.Phe467Leu) c.1353C>G (p.Phe451Leu) c.1278C>G (p.Phe426Leu) c.1221C>G (p.Phe407Leu) | dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30674176C>T | CA432917727 | TGFBR2 | c.1326C>T (p.Phe442=) n.2922C>T n.204C>T c.1401C>T (p.Phe467=) c.1353C>T (p.Phe451=) c.1278C>T (p.Phe426=) c.1221C>T (p.Phe407=) | dbSNP |
| 3 | g.30674177A>C | CA351809025 | TGFBR2 | c.1327A>C (p.Lys443Gln) n.2923A>C n.205A>C c.1402A>C (p.Lys468Gln) c.1354A>C (p.Lys452Gln) c.1279A>C (p.Lys427Gln) c.1222A>C (p.Lys408Gln) | |
| 3 | g.30674177A>G | CA351809026 | TGFBR2 | c.1327A>G (p.Lys443Glu) n.2923A>G n.205A>G c.1402A>G (p.Lys468Glu) c.1354A>G (p.Lys452Glu) c.1279A>G (p.Lys427Glu) c.1222A>G (p.Lys408Glu) | ClinVar dbSNP |
| 3 | g.30674177A>T | CA351809027 | TGFBR2 | c.1327A>T (p.Lys443Ter) n.2923A>T n.205A>T c.1402A>T (p.Lys468Ter) c.1354A>T (p.Lys452Ter) c.1279A>T (p.Lys427Ter) c.1222A>T (p.Lys408Ter) | dbSNP |
| 3 | g.30674178A= | CA1354874015 | TGFBR2 | c.1328A= (p.Lys443=) n.2924A= n.206A= c.1403A= (p.Lys468=) c.1355A= (p.Lys452=) c.1280A= (p.Lys427=) c.1223A= (p.Lys408=) | |
| 3 | g.30674178A>C | CA351809028 | TGFBR2 | c.1328A>C (p.Lys443Thr) n.2924A>C n.206A>C c.1403A>C (p.Lys468Thr) c.1355A>C (p.Lys452Thr) c.1280A>C (p.Lys427Thr) c.1223A>C (p.Lys408Thr) | |
| 3 | g.30674178A>G | CA71530965 | TGFBR2 | c.1328A>G (p.Lys443Arg) n.2924A>G n.206A>G c.1403A>G (p.Lys468Arg) c.1355A>G (p.Lys452Arg) c.1280A>G (p.Lys427Arg) c.1223A>G (p.Lys408Arg) | dbSNP gnomAD v4 |
| 3 | g.30674178A>T | CA351809029 | TGFBR2 | c.1328A>T (p.Lys443Met) n.2924A>T n.206A>T c.1403A>T (p.Lys468Met) c.1355A>T (p.Lys452Met) c.1280A>T (p.Lys427Met) c.1223A>T (p.Lys408Met) | dbSNP |
| 3 | g.30674179G>A | CA432917728 | TGFBR2 | c.1329G>A (p.Lys443=) n.2925G>A n.207G>A c.1404G>A (p.Lys468=) c.1356G>A (p.Lys452=) c.1281G>A (p.Lys427=) c.1224G>A (p.Lys408=) | dbSNP |
| 3 | g.30674179G>C | CA351809030 | TGFBR2 | c.1329G>C (p.Lys443Asn) n.2925G>C n.207G>C c.1404G>C (p.Lys468Asn) c.1356G>C (p.Lys452Asn) c.1281G>C (p.Lys427Asn) c.1224G>C (p.Lys408Asn) | dbSNP |
| 3 | g.30674179G>T | CA351809031 | TGFBR2 | c.1329G>T (p.Lys443Asn) n.2925G>T n.207G>T c.1404G>T (p.Lys468Asn) c.1356G>T (p.Lys452Asn) c.1281G>T (p.Lys427Asn) c.1224G>T (p.Lys408Asn) | |
| 3 | g.30674180C>A | CA351809032 | TGFBR2 | c.1330C>A (p.Gln444Lys) n.2926C>A n.208C>A c.1405C>A (p.Gln469Lys) c.1357C>A (p.Gln453Lys) c.1282C>A (p.Gln428Lys) c.1225C>A (p.Gln409Lys) | dbSNP |
| 3 | g.30674180C= | CA1354874016 | TGFBR2 | c.1330C= (p.Gln444=) n.2926C= n.208C= c.1405C= (p.Gln469=) c.1357C= (p.Gln453=) c.1282C= (p.Gln428=) c.1225C= (p.Gln409=) | |
| 3 | g.30674180C>G | CA351809033 | TGFBR2 | c.1330C>G (p.Gln444Glu) n.2926C>G n.208C>G c.1405C>G (p.Gln469Glu) c.1357C>G (p.Gln453Glu) c.1282C>G (p.Gln428Glu) c.1225C>G (p.Gln409Glu) | dbSNP |
| 3 | g.30674180C>T | CA71530976 | TGFBR2 | c.1330C>T (p.Gln444Ter) n.2926C>T n.208C>T c.1405C>T (p.Gln469Ter) c.1357C>T (p.Gln453Ter) c.1282C>T (p.Gln428Ter) c.1225C>T (p.Gln409Ter) | ClinVar dbSNP |
| 3 | g.30674181A>C | CA351809034 | TGFBR2 | c.1331A>C (p.Gln444Pro) n.2927A>C n.209A>C c.1406A>C (p.Gln469Pro) c.1358A>C (p.Gln453Pro) c.1283A>C (p.Gln428Pro) c.1226A>C (p.Gln409Pro) | ClinVar dbSNP |
| 3 | g.30674181A>G | CA351809035 | TGFBR2 | c.1331A>G (p.Gln444Arg) n.2927A>G n.209A>G c.1406A>G (p.Gln469Arg) c.1358A>G (p.Gln453Arg) c.1283A>G (p.Gln428Arg) c.1226A>G (p.Gln409Arg) | ClinVar |
| 3 | g.30674181A>T | CA351809036 | TGFBR2 | c.1331A>T (p.Gln444Leu) n.2927A>T n.209A>T c.1406A>T (p.Gln469Leu) c.1358A>T (p.Gln453Leu) c.1283A>T (p.Gln428Leu) c.1226A>T (p.Gln409Leu) | dbSNP |
| 3 | g.30674182G>A | CA432917729 | TGFBR2 | c.1332G>A (p.Gln444=) n.2928G>A n.210G>A c.1407G>A (p.Gln469=) c.1359G>A (p.Gln453=) c.1284G>A (p.Gln428=) c.1227G>A (p.Gln409=) | dbSNP |
| 3 | g.30674182G>C | CA351809037 | TGFBR2 | c.1332G>C (p.Gln444His) n.2928G>C n.210G>C c.1407G>C (p.Gln469His) c.1359G>C (p.Gln453His) c.1284G>C (p.Gln428His) c.1227G>C (p.Gln409His) | dbSNP |
| 3 | g.30674182G= | CA1354874017 | TGFBR2 | c.1332G= (p.Gln444=) n.2928G= n.210G= c.1407G= (p.Gln469=) c.1359G= (p.Gln453=) c.1284G= (p.Gln428=) c.1227G= (p.Gln409=) | |
| 3 | g.30674182G>T | CA046331 | TGFBR2 | c.1332G>T (p.Gln444His) n.2928G>T n.210G>T c.1407G>T (p.Gln469His) c.1359G>T (p.Gln453His) c.1284G>T (p.Gln428His) c.1227G>T (p.Gln409His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30674183A>C | CA351809038 | TGFBR2 | c.1333A>C (p.Thr445Pro) n.2929A>C n.211A>C c.1408A>C (p.Thr470Pro) c.1360A>C (p.Thr454Pro) c.1285A>C (p.Thr429Pro) c.1228A>C (p.Thr410Pro) | |
| 3 | g.30674183A>G | CA351809040 | TGFBR2 | c.1333A>G (p.Thr445Ala) n.2929A>G n.211A>G c.1408A>G (p.Thr470Ala) c.1360A>G (p.Thr454Ala) c.1285A>G (p.Thr429Ala) c.1228A>G (p.Thr410Ala) | dbSNP |
| 3 | g.30674183A>T | CA351809039 | TGFBR2 | c.1333A>T (p.Thr445Ser) n.2929A>T n.211A>T c.1408A>T (p.Thr470Ser) c.1360A>T (p.Thr454Ser) c.1285A>T (p.Thr429Ser) c.1228A>T (p.Thr410Ser) | dbSNP |
| 3 | g.30674184C>A | CA10587571 | TGFBR2 | c.1334C>A (p.Thr445Asn) n.2930C>A n.212C>A c.1409C>A (p.Thr470Asn) c.1361C>A (p.Thr454Asn) c.1286C>A (p.Thr429Asn) c.1229C>A (p.Thr410Asn) | ClinVar dbSNP |
| 3 | g.30674184C= | CA1354874018 | TGFBR2 | c.1334C= (p.Thr445=) n.2930C= n.212C= c.1409C= (p.Thr470=) c.1361C= (p.Thr454=) c.1286C= (p.Thr429=) c.1229C= (p.Thr410=) | |
| 3 | g.30674184C>G | CA351809041 | TGFBR2 | c.1334C>G (p.Thr445Ser) n.2930C>G n.212C>G c.1409C>G (p.Thr470Ser) c.1361C>G (p.Thr454Ser) c.1286C>G (p.Thr429Ser) c.1229C>G (p.Thr410Ser) | dbSNP |
| 3 | g.30674184C>T | CA351809042 | TGFBR2 | c.1334C>T (p.Thr445Ile) n.2930C>T n.212C>T c.1409C>T (p.Thr470Ile) c.1361C>T (p.Thr454Ile) c.1286C>T (p.Thr429Ile) c.1229C>T (p.Thr410Ile) | dbSNP |
| 3 | g.30674185C>A | CA432917730 | TGFBR2 | c.1335C>A (p.Thr445=) n.2931C>A n.213C>A c.1410C>A (p.Thr470=) c.1362C>A (p.Thr454=) c.1287C>A (p.Thr429=) c.1230C>A (p.Thr410=) | |
| 3 | g.30674185C= | CA1354874019 | TGFBR2 | c.1335C= (p.Thr445=) n.2931C= n.213C= c.1410C= (p.Thr470=) c.1362C= (p.Thr454=) c.1287C= (p.Thr429=) c.1230C= (p.Thr410=) | |
| 3 | g.30674185C>G | CA046357 | TGFBR2 | c.1335C>G (p.Thr445=) n.2931C>G n.213C>G c.1410C>G (p.Thr470=) c.1362C>G (p.Thr454=) c.1287C>G (p.Thr429=) c.1230C>G (p.Thr410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30674185C>T | CA046368 | TGFBR2 | c.1335C>T (p.Thr445=) n.2931C>T n.213C>T c.1410C>T (p.Thr470=) c.1362C>T (p.Thr454=) c.1287C>T (p.Thr429=) c.1230C>T (p.Thr410=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.30674186G>A | CA10588355 | TGFBR2 | c.1336G>A (p.Asp446Asn) n.2932G>A n.214G>A c.1411G>A (p.Asp471Asn) c.1363G>A (p.Asp455Asn) c.1288G>A (p.Asp430Asn) c.1231G>A (p.Asp411Asn) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30674186G>C | CA351809043 | TGFBR2 | c.1336G>C (p.Asp446His) n.2932G>C n.214G>C c.1411G>C (p.Asp471His) c.1363G>C (p.Asp455His) c.1288G>C (p.Asp430His) c.1231G>C (p.Asp411His) | dbSNP |
| 3 | g.30674186G= | CA1354874020 | TGFBR2 | c.1336G= (p.Asp446=) n.2932G= n.214G= c.1411G= (p.Asp471=) c.1363G= (p.Asp455=) c.1288G= (p.Asp430=) c.1231G= (p.Asp411=) | |
| 3 | g.30674186G>T | CA351809044 | TGFBR2 | c.1336G>T (p.Asp446Tyr) n.2932G>T n.214G>T c.1411G>T (p.Asp471Tyr) c.1363G>T (p.Asp455Tyr) c.1288G>T (p.Asp430Tyr) c.1231G>T (p.Asp411Tyr) | |
| 3 | g.30674187A>C | CA351809045 | TGFBR2 | c.1337A>C (p.Asp446Ala) n.2933A>C n.215A>C c.1412A>C (p.Asp471Ala) c.1364A>C (p.Asp455Ala) c.1289A>C (p.Asp430Ala) c.1232A>C (p.Asp411Ala) | |
| 3 | g.30674187A>G | CA351809046 | TGFBR2 | c.1337A>G (p.Asp446Gly) n.2933A>G n.215A>G c.1412A>G (p.Asp471Gly) c.1364A>G (p.Asp455Gly) c.1289A>G (p.Asp430Gly) c.1232A>G (p.Asp411Gly) | dbSNP |
| 3 | g.30674187A>T | CA351809047 | TGFBR2 | c.1337A>T (p.Asp446Val) n.2933A>T n.215A>T c.1412A>T (p.Asp471Val) c.1364A>T (p.Asp455Val) c.1289A>T (p.Asp430Val) c.1232A>T (p.Asp411Val) | dbSNP COSMIC COSMIC |
| 3 | g.30674188T>A | CA351809048 | TGFBR2 | c.1338T>A (p.Asp446Glu) n.2934T>A n.216T>A c.1413T>A (p.Asp471Glu) c.1365T>A (p.Asp455Glu) c.1290T>A (p.Asp430Glu) c.1233T>A (p.Asp411Glu) | dbSNP |
| 3 | g.30674188T>C | CA432917731 | TGFBR2 | c.1338T>C (p.Asp446=) n.2934T>C n.216T>C c.1413T>C (p.Asp471=) c.1365T>C (p.Asp455=) c.1290T>C (p.Asp430=) c.1233T>C (p.Asp411=) | ClinVar |
| 3 | g.30674188T>G | CA321430 | TGFBR2 | c.1338T>G (p.Asp446Glu) n.2934T>G n.216T>G c.1413T>G (p.Asp471Glu) c.1365T>G (p.Asp455Glu) c.1290T>G (p.Asp430Glu) c.1233T>G (p.Asp411Glu) | ClinVar dbSNP |
| 3 | g.30674188T= | CA1354874021 | TGFBR2 | c.1338T= (p.Asp446=) n.2934T= n.216T= c.1413T= (p.Asp471=) c.1365T= (p.Asp455=) c.1290T= (p.Asp430=) c.1233T= (p.Asp411=) | |
| 3 | g.30674189G>A | CA046382 | TGFBR2 | c.1339G>A (p.Val447Ile) n.2935G>A n.217G>A c.1414G>A (p.Val472Ile) c.1366G>A (p.Val456Ile) c.1291G>A (p.Val431Ile) c.1234G>A (p.Val412Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30674189G>C | CA351809049 | TGFBR2 | c.1339G>C (p.Val447Leu) n.2935G>C n.217G>C c.1414G>C (p.Val472Leu) c.1366G>C (p.Val456Leu) c.1291G>C (p.Val431Leu) c.1234G>C (p.Val412Leu) | dbSNP |
| 3 | g.30674189G= | CA1354874022 | TGFBR2 | c.1339G= (p.Val447=) n.2935G= n.217G= c.1414G= (p.Val472=) c.1366G= (p.Val456=) c.1291G= (p.Val431=) c.1234G= (p.Val412=) | |
| 3 | g.30674189G>T | CA351809050 | TGFBR2 | c.1339G>T (p.Val447Phe) n.2935G>T n.217G>T c.1414G>T (p.Val472Phe) c.1366G>T (p.Val456Phe) c.1291G>T (p.Val431Phe) c.1234G>T (p.Val412Phe) | dbSNP |
| 3 | g.30674190T>A | CA351809051 | TGFBR2 | c.1340T>A (p.Val447Asp) n.2936T>A n.218T>A c.1415T>A (p.Val472Asp) c.1367T>A (p.Val456Asp) c.1292T>A (p.Val431Asp) c.1235T>A (p.Val412Asp) | ClinVar dbSNP |
| 3 | g.30674190T>C | CA351809052 | TGFBR2 | c.1340T>C (p.Val447Ala) n.2936T>C n.218T>C c.1415T>C (p.Val472Ala) c.1367T>C (p.Val456Ala) c.1292T>C (p.Val431Ala) c.1235T>C (p.Val412Ala) | |
| 3 | g.30674190T>G | CA351809053 | TGFBR2 | c.1340T>G (p.Val447Gly) n.2936T>G n.218T>G c.1415T>G (p.Val472Gly) c.1367T>G (p.Val456Gly) c.1292T>G (p.Val431Gly) c.1235T>G (p.Val412Gly) | |
| 3 | g.30674190T= | CA1354874023 | TGFBR2 | c.1340T= (p.Val447=) n.2936T= n.218T= c.1415T= (p.Val472=) c.1367T= (p.Val456=) c.1292T= (p.Val431=) c.1235T= (p.Val412=) | |
| 3 | g.30674191C>A | CA432917732 | TGFBR2 | c.1341C>A (p.Val447=) n.2937C>A n.219C>A c.1416C>A (p.Val472=) c.1368C>A (p.Val456=) c.1293C>A (p.Val431=) c.1236C>A (p.Val412=) | dbSNP |
| 3 | g.30674191C>G | CA432917733 | TGFBR2 | c.1341C>G (p.Val447=) n.2937C>G n.219C>G c.1416C>G (p.Val472=) c.1368C>G (p.Val456=) c.1293C>G (p.Val431=) c.1236C>G (p.Val412=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30674191C>T | CA432917734 | TGFBR2 | c.1341C>T (p.Val447=) n.2937C>T n.219C>T c.1416C>T (p.Val472=) c.1368C>T (p.Val456=) c.1293C>T (p.Val431=) c.1236C>T (p.Val412=) | dbSNP |
| 3 | g.30674192T>A | CA351809054 | TGFBR2 | c.1342T>A (p.Tyr448Asn) n.2938T>A n.220T>A c.1417T>A (p.Tyr473Asn) c.1369T>A (p.Tyr457Asn) c.1294T>A (p.Tyr432Asn) c.1237T>A (p.Tyr413Asn) | dbSNP |
| 3 | g.30674192T>C | CA351809055 | TGFBR2 | c.1342T>C (p.Tyr448His) n.2938T>C n.220T>C c.1417T>C (p.Tyr473His) c.1369T>C (p.Tyr457His) c.1294T>C (p.Tyr432His) c.1237T>C (p.Tyr413His) | ClinVar dbSNP |
| 3 | g.30674192T>G | CA351809056 | TGFBR2 | c.1342T>G (p.Tyr448Asp) n.2938T>G n.220T>G c.1417T>G (p.Tyr473Asp) c.1369T>G (p.Tyr457Asp) c.1294T>G (p.Tyr432Asp) c.1237T>G (p.Tyr413Asp) | |
| 3 | g.30674193A>C | CA351809057 | TGFBR2 | c.1343A>C (p.Tyr448Ser) n.2939A>C n.221A>C c.1418A>C (p.Tyr473Ser) c.1370A>C (p.Tyr457Ser) c.1295A>C (p.Tyr432Ser) c.1238A>C (p.Tyr413Ser) | |
| 3 | g.30674193A>G | CA351809058 | TGFBR2 | c.1343A>G (p.Tyr448Cys) n.2939A>G n.221A>G c.1418A>G (p.Tyr473Cys) c.1370A>G (p.Tyr457Cys) c.1295A>G (p.Tyr432Cys) c.1238A>G (p.Tyr413Cys) | ClinVar COSMIC COSMIC |
| 3 | g.30674193A>T | CA351809059 | TGFBR2 | c.1343A>T (p.Tyr448Phe) n.2939A>T n.221A>T c.1418A>T (p.Tyr473Phe) c.1370A>T (p.Tyr457Phe) c.1295A>T (p.Tyr432Phe) c.1238A>T (p.Tyr413Phe) | |
| 3 | g.30674194C>A | CA351809060 | TGFBR2 | c.1344C>A (p.Tyr448Ter) n.2940C>A n.222C>A c.1419C>A (p.Tyr473Ter) c.1371C>A (p.Tyr457Ter) c.1296C>A (p.Tyr432Ter) c.1239C>A (p.Tyr413Ter) | |
| 3 | g.30674194C= | CA1354874024 | TGFBR2 | c.1344C= (p.Tyr448=) n.2940C= n.222C= c.1419C= (p.Tyr473=) c.1371C= (p.Tyr457=) c.1296C= (p.Tyr432=) c.1239C= (p.Tyr413=) | |
| 3 | g.30674194C>G | CA351809061 | TGFBR2 | c.1344C>G (p.Tyr448Ter) n.2940C>G n.222C>G c.1419C>G (p.Tyr473Ter) c.1371C>G (p.Tyr457Ter) c.1296C>G (p.Tyr432Ter) c.1239C>G (p.Tyr413Ter) | dbSNP |
| 3 | g.30674194C>T | CA046391 | TGFBR2 | c.1344C>T (p.Tyr448=) n.2940C>T n.222C>T c.1419C>T (p.Tyr473=) c.1371C>T (p.Tyr457=) c.1296C>T (p.Tyr432=) c.1239C>T (p.Tyr413=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30674195T>A | CA351809062 | TGFBR2 | c.1345T>A (p.Ser449Thr) n.2941T>A n.223T>A c.1420T>A (p.Ser474Thr) c.1372T>A (p.Ser458Thr) c.1297T>A (p.Ser433Thr) c.1240T>A (p.Ser414Thr) | |
| 3 | g.30674195T>C | CA351809064 | TGFBR2 | c.1345T>C (p.Ser449Pro) n.2941T>C n.223T>C c.1420T>C (p.Ser474Pro) c.1372T>C (p.Ser458Pro) c.1297T>C (p.Ser433Pro) c.1240T>C (p.Ser414Pro) | |
| 3 | g.30674195T>G | CA351809063 | TGFBR2 | c.1345T>G (p.Ser449Ala) n.2941T>G n.223T>G c.1420T>G (p.Ser474Ala) c.1372T>G (p.Ser458Ala) c.1297T>G (p.Ser433Ala) c.1240T>G (p.Ser414Ala) | |
| 3 | g.30674196C>A | CA351809065 | TGFBR2 | c.1346C>A (p.Ser449Tyr) n.2942C>A n.224C>A c.1421C>A (p.Ser474Tyr) c.1373C>A (p.Ser458Tyr) c.1298C>A (p.Ser433Tyr) c.1241C>A (p.Ser414Tyr) | dbSNP COSMIC COSMIC |
| 3 | g.30674196C= | CA1354874025 | TGFBR2 | c.1346C= (p.Ser449=) n.2942C= n.224C= c.1421C= (p.Ser474=) c.1373C= (p.Ser458=) c.1298C= (p.Ser433=) c.1241C= (p.Ser414=) | |
| 3 | g.30674196C>G | CA16611314 | TGFBR2 | c.1346C>G (p.Ser449Cys) n.2942C>G n.224C>G c.1421C>G (p.Ser474Cys) c.1373C>G (p.Ser458Cys) c.1298C>G (p.Ser433Cys) c.1241C>G (p.Ser414Cys) | ClinVar dbSNP |
| 3 | g.30674196C>T | CA020657 | TGFBR2 | c.1346C>T (p.Ser449Phe) n.2942C>T n.224C>T c.1421C>T (p.Ser474Phe) c.1373C>T (p.Ser458Phe) c.1298C>T (p.Ser433Phe) c.1241C>T (p.Ser414Phe) | ClinVar dbSNP |
| 3 | g.30674197del | CA2702374028 | TGFBR2 | c.1347del (p.Met450TrpfsTer8) n.2943del n.225del c.1422del (p.Met475TrpfsTer8) c.1374del (p.Met459TrpfsTer8) c.1299del (p.Met434TrpfsTer8) c.1242del (p.Met415TrpfsTer8) | dbSNP |
| 3 | g.30674197C>A | CA432917735 | TGFBR2 | c.1347C>A (p.Ser449=) n.2943C>A n.225C>A c.1422C>A (p.Ser474=) c.1374C>A (p.Ser458=) c.1299C>A (p.Ser433=) c.1242C>A (p.Ser414=) | dbSNP |
| 3 | g.30674197C>G | CA432917736 | TGFBR2 | c.1347C>G (p.Ser449=) n.2943C>G n.225C>G c.1422C>G (p.Ser474=) c.1374C>G (p.Ser458=) c.1299C>G (p.Ser433=) c.1242C>G (p.Ser414=) | dbSNP |
| 3 | g.30674197C>T | CA432917737 | TGFBR2 | c.1347C>T (p.Ser449=) n.2943C>T n.225C>T c.1422C>T (p.Ser474=) c.1374C>T (p.Ser458=) c.1299C>T (p.Ser433=) c.1242C>T (p.Ser414=) | dbSNP |
| 3 | g.30674198A>C | CA351809066 | TGFBR2 | c.1348A>C (p.Met450Leu) n.2944A>C n.226A>C c.1423A>C (p.Met475Leu) c.1375A>C (p.Met459Leu) c.1300A>C (p.Met434Leu) c.1243A>C (p.Met415Leu) | |
| 3 | g.30674198A>G | CA351809067 | TGFBR2 | c.1348A>G (p.Met450Val) n.2944A>G n.226A>G c.1423A>G (p.Met475Val) c.1375A>G (p.Met459Val) c.1300A>G (p.Met434Val) c.1243A>G (p.Met415Val) | |
| 3 | g.30674198A>T | CA351809068 | TGFBR2 | c.1348A>T (p.Met450Leu) n.2944A>T n.226A>T c.1423A>T (p.Met475Leu) c.1375A>T (p.Met459Leu) c.1300A>T (p.Met434Leu) c.1243A>T (p.Met415Leu) | dbSNP |
| 3 | g.30674199T>A | CA351809069 | TGFBR2 | c.1349T>A (p.Met450Lys) n.2945T>A n.227T>A c.1424T>A (p.Met475Lys) c.1376T>A (p.Met459Lys) c.1301T>A (p.Met434Lys) c.1244T>A (p.Met415Lys) | dbSNP |
| 3 | g.30674199T>C | CA351809070 | TGFBR2 | c.1349T>C (p.Met450Thr) n.2945T>C n.227T>C c.1424T>C (p.Met475Thr) c.1376T>C (p.Met459Thr) c.1301T>C (p.Met434Thr) c.1244T>C (p.Met415Thr) | dbSNP gnomAD v4 |
| 3 | g.30674199T>G | CA351809071 | TGFBR2 | c.1349T>G (p.Met450Arg) n.2945T>G n.227T>G c.1424T>G (p.Met475Arg) c.1376T>G (p.Met459Arg) c.1301T>G (p.Met434Arg) c.1244T>G (p.Met415Arg) | |
| 3 | g.30674199T= | CA1354874026 | TGFBR2 | c.1349T= (p.Met450=) n.2945T= n.227T= c.1424T= (p.Met475=) c.1376T= (p.Met459=) c.1301T= (p.Met434=) c.1244T= (p.Met415=) | |
| 3 | g.30674202_30674207del | CA2586965671 | TGFBR2 | c.1352_1357del (p.Ala451_Leu452del) n.2948_2953del n.230_235del c.1427_1432del (p.Ala476_Leu477del) c.1379_1384del (p.Ala460_Leu461del) c.1304_1309del (p.Ala435_Leu436del) c.1247_1252del (p.Ala416_Leu417del) | |
| 3 | g.30674200G>A | CA351809072 | TGFBR2 | c.1350G>A (p.Met450Ile) n.2946G>A n.228G>A c.1425G>A (p.Met475Ile) c.1377G>A (p.Met459Ile) c.1302G>A (p.Met434Ile) c.1245G>A (p.Met415Ile) | dbSNP |
| 3 | g.30674200G>C | CA351809073 | TGFBR2 | c.1350G>C (p.Met450Ile) n.2946G>C n.228G>C c.1425G>C (p.Met475Ile) c.1377G>C (p.Met459Ile) c.1302G>C (p.Met434Ile) c.1245G>C (p.Met415Ile) | |
| 3 | g.30674200G= | CA1354874027 | TGFBR2 | c.1350G= (p.Met450=) n.2946G= n.228G= c.1425G= (p.Met475=) c.1377G= (p.Met459=) c.1302G= (p.Met434=) c.1245G= (p.Met415=) | |
| 3 | g.30674200G>T | CA351809074 | TGFBR2 | c.1350G>T (p.Met450Ile) n.2946G>T n.228G>T c.1425G>T (p.Met475Ile) c.1377G>T (p.Met459Ile) c.1302G>T (p.Met434Ile) c.1245G>T (p.Met415Ile) | |
| 3 | g.30674201G>A | CA351809077 | TGFBR2 | c.1351G>A (p.Ala451Thr) n.2947G>A n.229G>A c.1426G>A (p.Ala476Thr) c.1378G>A (p.Ala460Thr) c.1303G>A (p.Ala435Thr) c.1246G>A (p.Ala416Thr) | dbSNP |
| 3 | g.30674201G>C | CA351809075 | TGFBR2 | c.1351G>C (p.Ala451Pro) n.2947G>C n.229G>C c.1426G>C (p.Ala476Pro) c.1378G>C (p.Ala460Pro) c.1303G>C (p.Ala435Pro) c.1246G>C (p.Ala416Pro) | dbSNP |
| 3 | g.30674201G>T | CA351809076 | TGFBR2 | c.1351G>T (p.Ala451Ser) n.2947G>T n.229G>T c.1426G>T (p.Ala476Ser) c.1378G>T (p.Ala460Ser) c.1303G>T (p.Ala435Ser) c.1246G>T (p.Ala416Ser) | dbSNP |
| 3 | g.30674202C>A | CA351809078 | TGFBR2 | c.1352C>A (p.Ala451Asp) n.2948C>A n.230C>A c.1427C>A (p.Ala476Asp) c.1379C>A (p.Ala460Asp) c.1304C>A (p.Ala435Asp) c.1247C>A (p.Ala416Asp) | dbSNP |
| 3 | g.30674202C>G | CA351809079 | TGFBR2 | c.1352C>G (p.Ala451Gly) n.2948C>G n.230C>G c.1427C>G (p.Ala476Gly) c.1379C>G (p.Ala460Gly) c.1304C>G (p.Ala435Gly) c.1247C>G (p.Ala416Gly) | dbSNP |
| 3 | g.30674202C>T | CA351809080 | TGFBR2 | c.1352C>T (p.Ala451Val) n.2948C>T n.230C>T c.1427C>T (p.Ala476Val) c.1379C>T (p.Ala460Val) c.1304C>T (p.Ala435Val) c.1247C>T (p.Ala416Val) | ClinVar dbSNP |
| 3 | g.30674203T>A | CA432917738 | TGFBR2 | c.1353T>A (p.Ala451=) n.2949T>A n.231T>A c.1428T>A (p.Ala476=) c.1380T>A (p.Ala460=) c.1305T>A (p.Ala435=) c.1248T>A (p.Ala416=) | dbSNP |
| 3 | g.30674203T>C | CA432917739 | TGFBR2 | c.1353T>C (p.Ala451=) n.2949T>C n.231T>C c.1428T>C (p.Ala476=) c.1380T>C (p.Ala460=) c.1305T>C (p.Ala435=) c.1248T>C (p.Ala416=) | |
| 3 | g.30674203T>G | CA432917740 | TGFBR2 | c.1353T>G (p.Ala451=) n.2949T>G n.231T>G c.1428T>G (p.Ala476=) c.1380T>G (p.Ala460=) c.1305T>G (p.Ala435=) c.1248T>G (p.Ala416=) | |
| 3 | g.30674204C>A | CA351809081 | TGFBR2 | c.1354C>A (p.Leu452Met) n.2950C>A n.232C>A c.1429C>A (p.Leu477Met) c.1381C>A (p.Leu461Met) c.1306C>A (p.Leu436Met) c.1249C>A (p.Leu417Met) | |
| 3 | g.30674204C>G | CA351809082 | TGFBR2 | c.1354C>G (p.Leu452Val) n.2950C>G n.232C>G c.1429C>G (p.Leu477Val) c.1381C>G (p.Leu461Val) c.1306C>G (p.Leu436Val) c.1249C>G (p.Leu417Val) | dbSNP |
| 3 | g.30674204C>T | CA432917741 | TGFBR2 | c.1354C>T (p.Leu452=) n.2950C>T n.232C>T c.1429C>T (p.Leu477=) c.1381C>T (p.Leu461=) c.1306C>T (p.Leu436=) c.1249C>T (p.Leu417=) | |
| 3 | g.30674205T>A | CA351809083 | TGFBR2 | c.1355T>A (p.Leu452Gln) n.2951T>A n.233T>A c.1430T>A (p.Leu477Gln) c.1382T>A (p.Leu461Gln) c.1307T>A (p.Leu436Gln) c.1250T>A (p.Leu417Gln) | |
| 3 | g.30674205T>C | CA351809084 | TGFBR2 | c.1355T>C (p.Leu452Pro) n.2951T>C n.233T>C c.1430T>C (p.Leu477Pro) c.1382T>C (p.Leu461Pro) c.1307T>C (p.Leu436Pro) c.1250T>C (p.Leu417Pro) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30674205T>G | CA351809085 | TGFBR2 | c.1355T>G (p.Leu452Arg) n.2951T>G n.233T>G c.1430T>G (p.Leu477Arg) c.1382T>G (p.Leu461Arg) c.1307T>G (p.Leu436Arg) c.1250T>G (p.Leu417Arg) | COSMIC COSMIC |
| 3 | g.30674205T= | CA1354874028 | TGFBR2 | c.1355T= (p.Leu452=) n.2951T= n.233T= c.1430T= (p.Leu477=) c.1382T= (p.Leu461=) c.1307T= (p.Leu436=) c.1250T= (p.Leu417=) | |
| 3 | g.30674206G>A | CA432917742 | TGFBR2 | c.1356G>A (p.Leu452=) n.2952G>A n.234G>A c.1431G>A (p.Leu477=) c.1383G>A (p.Leu461=) c.1308G>A (p.Leu436=) c.1251G>A (p.Leu417=) | dbSNP COSMIC COSMIC |
| 3 | g.30674206G>C | CA432917743 | TGFBR2 | c.1356G>C (p.Leu452=) n.2952G>C n.234G>C c.1431G>C (p.Leu477=) c.1383G>C (p.Leu461=) c.1308G>C (p.Leu436=) c.1251G>C (p.Leu417=) | dbSNP |
| 3 | g.30674206G= | CA1354874029 | TGFBR2 | c.1356G= (p.Leu452=) n.2952G= n.234G= c.1431G= (p.Leu477=) c.1383G= (p.Leu461=) c.1308G= (p.Leu436=) c.1251G= (p.Leu417=) | |
| 3 | g.30674206G>T | CA71531065 | TGFBR2 | c.1356G>T (p.Leu452=) n.2952G>T n.234G>T c.1431G>T (p.Leu477=) c.1383G>T (p.Leu461=) c.1308G>T (p.Leu436=) c.1251G>T (p.Leu417=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30674207G>A | CA351809086 | TGFBR2 | c.1357G>A (p.Val453Met) n.2953G>A n.235G>A c.1432G>A (p.Val478Met) c.1384G>A (p.Val462Met) c.1309G>A (p.Val437Met) c.1252G>A (p.Val418Met) | dbSNP |
| 3 | g.30674207G>C | CA351809087 | TGFBR2 | c.1357G>C (p.Val453Leu) n.2953G>C n.235G>C c.1432G>C (p.Val478Leu) c.1384G>C (p.Val462Leu) c.1309G>C (p.Val437Leu) c.1252G>C (p.Val418Leu) | dbSNP |
| 3 | g.30674207G>T | CA351809088 | TGFBR2 | c.1357G>T (p.Val453Leu) n.2953G>T n.235G>T c.1432G>T (p.Val478Leu) c.1384G>T (p.Val462Leu) c.1309G>T (p.Val437Leu) c.1252G>T (p.Val418Leu) | ClinVar dbSNP |
| 3 | g.30674208T>A | CA351809090 | TGFBR2 | c.1358T>A (p.Val453Glu) n.2954T>A n.236T>A c.1433T>A (p.Val478Glu) c.1385T>A (p.Val462Glu) c.1310T>A (p.Val437Glu) c.1253T>A (p.Val418Glu) | dbSNP |
| 3 | g.30674208T>C | CA351809091 | TGFBR2 | c.1358T>C (p.Val453Ala) n.2954T>C n.236T>C c.1433T>C (p.Val478Ala) c.1385T>C (p.Val462Ala) c.1310T>C (p.Val437Ala) c.1253T>C (p.Val418Ala) | dbSNP |
| 3 | g.30674208T>G | CA351809089 | TGFBR2 | c.1358T>G (p.Val453Gly) n.2954T>G n.236T>G c.1433T>G (p.Val478Gly) c.1385T>G (p.Val462Gly) c.1310T>G (p.Val437Gly) c.1253T>G (p.Val418Gly) | dbSNP |
| 3 | g.30674209G>A | CA432917745 | TGFBR2 | c.1359G>A (p.Val453=) n.2955G>A n.237G>A c.1434G>A (p.Val478=) c.1386G>A (p.Val462=) c.1311G>A (p.Val437=) c.1254G>A (p.Val418=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30674209G>C | CA432917746 | TGFBR2 | c.1359G>C (p.Val453=) n.2955G>C n.237G>C c.1434G>C (p.Val478=) c.1386G>C (p.Val462=) c.1311G>C (p.Val437=) c.1254G>C (p.Val418=) | dbSNP |
| 3 | g.30674209G>T | CA432917744 | TGFBR2 | c.1359G>T (p.Val453=) n.2955G>T n.237G>T c.1434G>T (p.Val478=) c.1386G>T (p.Val462=) c.1311G>T (p.Val437=) c.1254G>T (p.Val418=) | |
| 3 | g.30674210C>A | CA351809094 | TGFBR2 | c.1360C>A (p.Leu454Ile) n.2956C>A n.238C>A c.1435C>A (p.Leu479Ile) c.1387C>A (p.Leu463Ile) c.1312C>A (p.Leu438Ile) c.1255C>A (p.Leu419Ile) | dbSNP |
| 3 | g.30674210C>G | CA351809092 | TGFBR2 | c.1360C>G (p.Leu454Val) n.2956C>G n.238C>G c.1435C>G (p.Leu479Val) c.1387C>G (p.Leu463Val) c.1312C>G (p.Leu438Val) c.1255C>G (p.Leu419Val) | dbSNP |
| 3 | g.30674210C>T | CA351809093 | TGFBR2 | c.1360C>T (p.Leu454Phe) n.2956C>T n.238C>T c.1435C>T (p.Leu479Phe) c.1387C>T (p.Leu463Phe) c.1312C>T (p.Leu438Phe) c.1255C>T (p.Leu419Phe) | ClinVar dbSNP |
| 3 | g.30674211T>A | CA351809095 | TGFBR2 | c.1361T>A (p.Leu454His) n.2957T>A n.239T>A c.1436T>A (p.Leu479His) c.1388T>A (p.Leu463His) c.1313T>A (p.Leu438His) c.1256T>A (p.Leu419His) | dbSNP |
| 3 | g.30674211T>C | CA351809096 | TGFBR2 | c.1361T>C (p.Leu454Pro) n.2957T>C n.239T>C c.1436T>C (p.Leu479Pro) c.1388T>C (p.Leu463Pro) c.1313T>C (p.Leu438Pro) c.1256T>C (p.Leu419Pro) | COSMIC COSMIC |
| 3 | g.30674211T>G | CA351809097 | TGFBR2 | c.1361T>G (p.Leu454Arg) n.2957T>G n.239T>G c.1436T>G (p.Leu479Arg) c.1388T>G (p.Leu463Arg) c.1313T>G (p.Leu438Arg) c.1256T>G (p.Leu419Arg) | |
| 3 | g.30674212C>A | CA432917749 | TGFBR2 | c.1362C>A (p.Leu454=) n.2958C>A n.240C>A c.1437C>A (p.Leu479=) c.1389C>A (p.Leu463=) c.1314C>A (p.Leu438=) c.1257C>A (p.Leu419=) | |
| 3 | g.30674212C= | CA1354874030 | TGFBR2 | c.1362C= (p.Leu454=) n.2958C= n.240C= c.1437C= (p.Leu479=) c.1389C= (p.Leu463=) c.1314C= (p.Leu438=) c.1257C= (p.Leu419=) | |
| 3 | g.30674212C>G | CA432917747 | TGFBR2 | c.1362C>G (p.Leu454=) n.2958C>G n.240C>G c.1437C>G (p.Leu479=) c.1389C>G (p.Leu463=) c.1314C>G (p.Leu438=) c.1257C>G (p.Leu419=) | dbSNP |
| 3 | g.30674212C>T | CA432917748 | TGFBR2 | c.1362C>T (p.Leu454=) n.2958C>T n.240C>T c.1437C>T (p.Leu479=) c.1389C>T (p.Leu463=) c.1314C>T (p.Leu438=) c.1257C>T (p.Leu419=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30674213T>A | CA351809100 | TGFBR2 | c.1363T>A (p.Trp455Arg) n.2959T>A n.241T>A c.1438T>A (p.Trp480Arg) c.1390T>A (p.Trp464Arg) c.1315T>A (p.Trp439Arg) c.1258T>A (p.Trp420Arg) | ClinVar |
| 3 | g.30674213T>C | CA351809099 | TGFBR2 | c.1363T>C (p.Trp455Arg) n.2959T>C n.241T>C c.1438T>C (p.Trp480Arg) c.1390T>C (p.Trp464Arg) c.1315T>C (p.Trp439Arg) c.1258T>C (p.Trp420Arg) | |
| 3 | g.30674213T>G | CA351809098 | TGFBR2 | c.1363T>G (p.Trp455Gly) n.2959T>G n.241T>G c.1438T>G (p.Trp480Gly) c.1390T>G (p.Trp464Gly) c.1315T>G (p.Trp439Gly) c.1258T>G (p.Trp420Gly) | |
| 3 | g.30674214G>A | CA351809101 | TGFBR2 | c.1364G>A (p.Trp455Ter) n.2960G>A n.242G>A c.1439G>A (p.Trp480Ter) c.1391G>A (p.Trp464Ter) c.1316G>A (p.Trp439Ter) c.1259G>A (p.Trp420Ter) | dbSNP |
| 3 | g.30674214G>C | CA351809102 | TGFBR2 | c.1364G>C (p.Trp455Ser) n.2960G>C n.242G>C c.1439G>C (p.Trp480Ser) c.1391G>C (p.Trp464Ser) c.1316G>C (p.Trp439Ser) c.1259G>C (p.Trp420Ser) | COSMIC COSMIC |
| 3 | g.30674214G>T | CA351809103 | TGFBR2 | c.1364G>T (p.Trp455Leu) n.2960G>T n.242G>T c.1439G>T (p.Trp480Leu) c.1391G>T (p.Trp464Leu) c.1316G>T (p.Trp439Leu) c.1259G>T (p.Trp420Leu) | |
| 3 | g.30674215G>A | CA351809104 | TGFBR2 | c.1365G>A (p.Trp455Ter) n.2961G>A n.243G>A c.1440G>A (p.Trp480Ter) c.1392G>A (p.Trp464Ter) c.1317G>A (p.Trp439Ter) c.1260G>A (p.Trp420Ter) | dbSNP |
| 3 | g.30674215G>C | CA351809105 | TGFBR2 | c.1365G>C (p.Trp455Cys) n.2961G>C n.243G>C c.1440G>C (p.Trp480Cys) c.1392G>C (p.Trp464Cys) c.1317G>C (p.Trp439Cys) c.1260G>C (p.Trp420Cys) | dbSNP |
| 3 | g.30674215G>T | CA351809106 | TGFBR2 | c.1365G>T (p.Trp455Cys) n.2961G>T n.243G>T c.1440G>T (p.Trp480Cys) c.1392G>T (p.Trp464Cys) c.1317G>T (p.Trp439Cys) c.1260G>T (p.Trp420Cys) | dbSNP |
| 3 | g.30674216G>A | CA351809107 | TGFBR2 | c.1366G>A (p.Glu456Lys) n.2962G>A n.244G>A c.1441G>A (p.Glu481Lys) c.1393G>A (p.Glu465Lys) c.1318G>A (p.Glu440Lys) c.1261G>A (p.Glu421Lys) | dbSNP |
| 3 | g.30674216G>C | CA351809109 | TGFBR2 | c.1366G>C (p.Glu456Gln) n.2962G>C n.244G>C c.1441G>C (p.Glu481Gln) c.1393G>C (p.Glu465Gln) c.1318G>C (p.Glu440Gln) c.1261G>C (p.Glu421Gln) | dbSNP |
| 3 | g.30674216G>T | CA351809108 | TGFBR2 | c.1366G>T (p.Glu456Ter) n.2962G>T n.244G>T c.1441G>T (p.Glu481Ter) c.1393G>T (p.Glu465Ter) c.1318G>T (p.Glu440Ter) c.1261G>T (p.Glu421Ter) | |
| 3 | g.30674217A>C | CA351809110 | TGFBR2 | c.1367A>C (p.Glu456Ala) n.2963A>C n.245A>C c.1442A>C (p.Glu481Ala) c.1394A>C (p.Glu465Ala) c.1319A>C (p.Glu440Ala) c.1262A>C (p.Glu421Ala) | |
| 3 | g.30674217A>G | CA351809111 | TGFBR2 | c.1367A>G (p.Glu456Gly) n.2963A>G n.245A>G c.1442A>G (p.Glu481Gly) c.1394A>G (p.Glu465Gly) c.1319A>G (p.Glu440Gly) c.1262A>G (p.Glu421Gly) | |
| 3 | g.30674217A>T | CA351809112 | TGFBR2 | c.1367A>T (p.Glu456Val) n.2963A>T n.245A>T c.1442A>T (p.Glu481Val) c.1394A>T (p.Glu465Val) c.1319A>T (p.Glu440Val) c.1262A>T (p.Glu421Val) | |
| 3 | g.30674218A>C | CA351809113 | TGFBR2 | c.1368A>C (p.Glu456Asp) n.2964A>C n.246A>C c.1443A>C (p.Glu481Asp) c.1395A>C (p.Glu465Asp) c.1320A>C (p.Glu440Asp) c.1263A>C (p.Glu421Asp) | ClinVar dbSNP |
| 3 | g.30674218A>G | CA432917750 | TGFBR2 | c.1368A>G (p.Glu456=) n.2964A>G n.246A>G c.1443A>G (p.Glu481=) c.1395A>G (p.Glu465=) c.1320A>G (p.Glu440=) c.1263A>G (p.Glu421=) | |
| 3 | g.30674218A>T | CA351809114 | TGFBR2 | c.1368A>T (p.Glu456Asp) n.2964A>T n.246A>T c.1443A>T (p.Glu481Asp) c.1395A>T (p.Glu465Asp) c.1320A>T (p.Glu440Asp) c.1263A>T (p.Glu421Asp) | dbSNP |
| 3 | g.30674219A>C | CA351809115 | TGFBR2 | c.1369A>C (p.Met457Leu) n.2965A>C n.247A>C c.1444A>C (p.Met482Leu) c.1396A>C (p.Met466Leu) c.1321A>C (p.Met441Leu) c.1264A>C (p.Met422Leu) | |
| 3 | g.30674219A>G | CA351809116 | TGFBR2 | c.1369A>G (p.Met457Val) n.2965A>G n.247A>G c.1444A>G (p.Met482Val) c.1396A>G (p.Met466Val) c.1321A>G (p.Met441Val) c.1264A>G (p.Met422Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30674219A>T | CA351809117 | TGFBR2 | c.1369A>T (p.Met457Leu) n.2965A>T n.247A>T c.1444A>T (p.Met482Leu) c.1396A>T (p.Met466Leu) c.1321A>T (p.Met441Leu) c.1264A>T (p.Met422Leu) | dbSNP |
| 3 | g.30674220T>A | CA351809118 | TGFBR2 | c.1370T>A (p.Met457Lys) n.2966T>A n.248T>A c.1445T>A (p.Met482Lys) c.1397T>A (p.Met466Lys) c.1322T>A (p.Met441Lys) c.1265T>A (p.Met422Lys) | |
| 3 | g.30674220T>C | CA351809119 | TGFBR2 | c.1370T>C (p.Met457Thr) n.2966T>C n.248T>C c.1445T>C (p.Met482Thr) c.1397T>C (p.Met466Thr) c.1322T>C (p.Met441Thr) c.1265T>C (p.Met422Thr) | ClinVar |
| 3 | g.30674220T>G | CA351809120 | TGFBR2 | c.1370T>G (p.Met457Arg) n.2966T>G n.248T>G c.1445T>G (p.Met482Arg) c.1397T>G (p.Met466Arg) c.1322T>G (p.Met441Arg) c.1265T>G (p.Met422Arg) | |
| 3 | g.30674221G>A | CA351809123 | TGFBR2 | c.1371G>A (p.Met457Ile) n.2967G>A n.249G>A c.1446G>A (p.Met482Ile) c.1398G>A (p.Met466Ile) c.1323G>A (p.Met441Ile) c.1266G>A (p.Met422Ile) | dbSNP COSMIC COSMIC |
| 3 | g.30674221G>C | CA351809122 | TGFBR2 | c.1371G>C (p.Met457Ile) n.2967G>C n.249G>C c.1446G>C (p.Met482Ile) c.1398G>C (p.Met466Ile) c.1323G>C (p.Met441Ile) c.1266G>C (p.Met422Ile) | dbSNP |
| 3 | g.30674221G= | CA1354874031 | TGFBR2 | c.1371G= (p.Met457=) n.2967G= n.249G= c.1446G= (p.Met482=) c.1398G= (p.Met466=) c.1323G= (p.Met441=) c.1266G= (p.Met422=) | |
| 3 | g.30674221G>T | CA351809121 | TGFBR2 | c.1371G>T (p.Met457Ile) n.2967G>T n.249G>T c.1446G>T (p.Met482Ile) c.1398G>T (p.Met466Ile) c.1323G>T (p.Met441Ile) c.1266G>T (p.Met422Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30674222A>C | CA351809124 | TGFBR2 | c.1372A>C (p.Thr458Pro) n.2968A>C n.250A>C c.1447A>C (p.Thr483Pro) c.1399A>C (p.Thr467Pro) c.1324A>C (p.Thr442Pro) c.1267A>C (p.Thr423Pro) | |
| 3 | g.30674222A>G | CA351809125 | TGFBR2 | c.1372A>G (p.Thr458Ala) n.2968A>G n.250A>G c.1447A>G (p.Thr483Ala) c.1399A>G (p.Thr467Ala) c.1324A>G (p.Thr442Ala) c.1267A>G (p.Thr423Ala) | |
| 3 | g.30674222A>T | CA351809126 | TGFBR2 | c.1372A>T (p.Thr458Ser) n.2968A>T n.250A>T c.1447A>T (p.Thr483Ser) c.1399A>T (p.Thr467Ser) c.1324A>T (p.Thr442Ser) c.1267A>T (p.Thr423Ser) | dbSNP |
| 3 | g.30674223C>A | CA351809127 | TGFBR2 | c.1373C>A (p.Thr458Lys) n.2969C>A n.251C>A c.1448C>A (p.Thr483Lys) c.1400C>A (p.Thr467Lys) c.1325C>A (p.Thr442Lys) c.1268C>A (p.Thr423Lys) | dbSNP COSMIC |
| 3 | g.30674223C= | CA1354874032 | TGFBR2 | c.1373C= (p.Thr458=) n.2969C= n.251C= c.1448C= (p.Thr483=) c.1400C= (p.Thr467=) c.1325C= (p.Thr442=) c.1268C= (p.Thr423=) | |
| 3 | g.30674223C>G | CA351809128 | TGFBR2 | c.1373C>G (p.Thr458Arg) n.2969C>G n.251C>G c.1448C>G (p.Thr483Arg) c.1400C>G (p.Thr467Arg) c.1325C>G (p.Thr442Arg) c.1268C>G (p.Thr423Arg) | dbSNP |
| 3 | g.30674223C>T | CA351809129 | TGFBR2 | c.1373C>T (p.Thr458Ile) n.2969C>T n.251C>T c.1448C>T (p.Thr483Ile) c.1400C>T (p.Thr467Ile) c.1325C>T (p.Thr442Ile) c.1268C>T (p.Thr423Ile) | ClinVar dbSNP |
| 3 | g.30674224A>C | CA432917751 | TGFBR2 | c.1374A>C (p.Thr458=) n.2970A>C n.252A>C c.1449A>C (p.Thr483=) c.1401A>C (p.Thr467=) c.1326A>C (p.Thr442=) c.1269A>C (p.Thr423=) | |
| 3 | g.30674224A>G | CA432917752 | TGFBR2 | c.1374A>G (p.Thr458=) n.2970A>G n.252A>G c.1449A>G (p.Thr483=) c.1401A>G (p.Thr467=) c.1326A>G (p.Thr442=) c.1269A>G (p.Thr423=) | |
| 3 | g.30674224A>T | CA432917753 | TGFBR2 | c.1374A>T (p.Thr458=) n.2970A>T n.252A>T c.1449A>T (p.Thr483=) c.1401A>T (p.Thr467=) c.1326A>T (p.Thr442=) c.1269A>T (p.Thr423=) | ClinVar dbSNP |
| 3 | g.30674225T>A | CA351809132 | TGFBR2 | c.1375T>A (p.Ser459Thr) n.2971T>A n.253T>A c.1450T>A (p.Ser484Thr) c.1402T>A (p.Ser468Thr) c.1327T>A (p.Ser443Thr) c.1270T>A (p.Ser424Thr) | dbSNP |
| 3 | g.30674225T>C | CA351809131 | TGFBR2 | c.1375T>C (p.Ser459Pro) n.2971T>C n.253T>C c.1450T>C (p.Ser484Pro) c.1402T>C (p.Ser468Pro) c.1327T>C (p.Ser443Pro) c.1270T>C (p.Ser424Pro) | |
| 3 | g.30674225T>G | CA351809130 | TGFBR2 | c.1375T>G (p.Ser459Ala) n.2971T>G n.253T>G c.1450T>G (p.Ser484Ala) c.1402T>G (p.Ser468Ala) c.1327T>G (p.Ser443Ala) c.1270T>G (p.Ser424Ala) | |
| 3 | g.30674226C>A | CA351809133 | TGFBR2 | c.1376C>A (p.Ser459Tyr) n.2972C>A n.254C>A c.1451C>A (p.Ser484Tyr) c.1403C>A (p.Ser468Tyr) c.1328C>A (p.Ser443Tyr) c.1271C>A (p.Ser424Tyr) | COSMIC COSMIC |
| 3 | g.30674226C>G | CA351809134 | TGFBR2 | c.1376C>G (p.Ser459Cys) n.2972C>G n.254C>G c.1451C>G (p.Ser484Cys) c.1403C>G (p.Ser468Cys) c.1328C>G (p.Ser443Cys) c.1271C>G (p.Ser424Cys) | dbSNP |
| 3 | g.30674226C>T | CA351809135 | TGFBR2 | c.1376C>T (p.Ser459Phe) n.2972C>T n.254C>T c.1451C>T (p.Ser484Phe) c.1403C>T (p.Ser468Phe) c.1328C>T (p.Ser443Phe) c.1271C>T (p.Ser424Phe) | |
| 3 | g.30674227T>A | CA432917754 | TGFBR2 | c.1377T>A (p.Ser459=) n.2973T>A n.255T>A c.1452T>A (p.Ser484=) c.1404T>A (p.Ser468=) c.1329T>A (p.Ser443=) c.1272T>A (p.Ser424=) | dbSNP gnomAD v4 |
| 3 | g.30674227T>C | CA432917755 | TGFBR2 | c.1377T>C (p.Ser459=) n.2973T>C n.255T>C c.1452T>C (p.Ser484=) c.1404T>C (p.Ser468=) c.1329T>C (p.Ser443=) c.1272T>C (p.Ser424=) | dbSNP |
| 3 | g.30674227T>G | CA432917756 | TGFBR2 | c.1377T>G (p.Ser459=) n.2973T>G n.255T>G c.1452T>G (p.Ser484=) c.1404T>G (p.Ser468=) c.1329T>G (p.Ser443=) c.1272T>G (p.Ser424=) | gnomAD v4 |
| 3 | g.30674228C>A | CA351809136 | TGFBR2 | c.1378C>A (p.Arg460Ser) n.2974C>A n.256C>A c.1453C>A (p.Arg485Ser) c.1405C>A (p.Arg469Ser) c.1330C>A (p.Arg444Ser) c.1273C>A (p.Arg425Ser) | ClinVar dbSNP |
| 3 | g.30674228C= | CA1354874033 | TGFBR2 | c.1378C= (p.Arg460=) n.2974C= n.256C= c.1453C= (p.Arg485=) c.1405C= (p.Arg469=) c.1330C= (p.Arg444=) c.1273C= (p.Arg425=) | |
| 3 | g.30674228C>G | CA351809137 | TGFBR2 | c.1378C>G (p.Arg460Gly) n.2974C>G n.256C>G c.1453C>G (p.Arg485Gly) c.1405C>G (p.Arg469Gly) c.1330C>G (p.Arg444Gly) c.1273C>G (p.Arg425Gly) | ClinVar dbSNP |
| 3 | g.30674228C>T | CA020661 | TGFBR2 | c.1378C>T (p.Arg460Cys) n.2974C>T n.256C>T c.1453C>T (p.Arg485Cys) c.1405C>T (p.Arg469Cys) c.1330C>T (p.Arg444Cys) c.1273C>T (p.Arg425Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30674229G>A | CA020664 | TGFBR2 | c.1379G>A (p.Arg460His) n.2975G>A n.257G>A c.1454G>A (p.Arg485His) c.1406G>A (p.Arg469His) c.1331G>A (p.Arg444His) c.1274G>A (p.Arg425His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30674229G>C | CA351809139 | TGFBR2 | c.1379G>C (p.Arg460Pro) n.2975G>C n.257G>C c.1454G>C (p.Arg485Pro) c.1406G>C (p.Arg469Pro) c.1331G>C (p.Arg444Pro) c.1274G>C (p.Arg425Pro) | ClinVar dbSNP |
| 3 | g.30674229G= | CA1354874034 | TGFBR2 | c.1379G= (p.Arg460=) n.2975G= n.257G= c.1454G= (p.Arg485=) c.1406G= (p.Arg469=) c.1331G= (p.Arg444=) c.1274G= (p.Arg425=) | |
| 3 | g.30674229G>T | CA351809138 | TGFBR2 | c.1379G>T (p.Arg460Leu) n.2975G>T n.257G>T c.1454G>T (p.Arg485Leu) c.1406G>T (p.Arg469Leu) c.1331G>T (p.Arg444Leu) c.1274G>T (p.Arg425Leu) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30674230C>A | CA432917759 | TGFBR2 | c.1380C>A (p.Arg460=) n.2976C>A n.258C>A c.1455C>A (p.Arg485=) c.1407C>A (p.Arg469=) c.1332C>A (p.Arg444=) c.1275C>A (p.Arg425=) | dbSNP |
| 3 | g.30674230C= | CA1354874035 | TGFBR2 | c.1380C= (p.Arg460=) n.2976C= n.258C= c.1455C= (p.Arg485=) c.1407C= (p.Arg469=) c.1332C= (p.Arg444=) c.1275C= (p.Arg425=) | |
| 3 | g.30674230C>G | CA432917758 | TGFBR2 | c.1380C>G (p.Arg460=) n.2976C>G n.258C>G c.1455C>G (p.Arg485=) c.1407C>G (p.Arg469=) c.1332C>G (p.Arg444=) c.1275C>G (p.Arg425=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30674230C>T | CA432917757 | TGFBR2 | c.1380C>T (p.Arg460=) n.2976C>T n.258C>T c.1455C>T (p.Arg485=) c.1407C>T (p.Arg469=) c.1332C>T (p.Arg444=) c.1275C>T (p.Arg425=) | dbSNP |
| 3 | g.30674231T>A | CA351809140 | TGFBR2 | c.1381T>A (p.Cys461Ser) n.2977T>A n.259T>A c.1456T>A (p.Cys486Ser) c.1408T>A (p.Cys470Ser) c.1333T>A (p.Cys445Ser) c.1276T>A (p.Cys426Ser) | dbSNP |
| 3 | g.30674231T>C | CA351809141 | TGFBR2 | c.1381T>C (p.Cys461Arg) n.2977T>C n.259T>C c.1456T>C (p.Cys486Arg) c.1408T>C (p.Cys470Arg) c.1333T>C (p.Cys445Arg) c.1276T>C (p.Cys426Arg) | ClinVar dbSNP |
| 3 | g.30674231T>G | CA351809142 | TGFBR2 | c.1381T>G (p.Cys461Gly) n.2977T>G n.259T>G c.1456T>G (p.Cys486Gly) c.1408T>G (p.Cys470Gly) c.1333T>G (p.Cys445Gly) c.1276T>G (p.Cys426Gly) | |
| 3 | g.30674231T= | CA1354874036 | TGFBR2 | c.1381T= (p.Cys461=) n.2977T= n.259T= c.1456T= (p.Cys486=) c.1408T= (p.Cys470=) c.1333T= (p.Cys445=) c.1276T= (p.Cys426=) | |
| 3 | g.30674232G>A | CA020670 | TGFBR2 | c.1382G>A (p.Cys461Tyr) n.2978G>A n.260G>A c.1457G>A (p.Cys486Tyr) c.1409G>A (p.Cys470Tyr) c.1334G>A (p.Cys445Tyr) c.1277G>A (p.Cys426Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30674232G>C | CA351809143 | TGFBR2 | c.1382G>C (p.Cys461Ser) n.2978G>C n.260G>C c.1457G>C (p.Cys486Ser) c.1409G>C (p.Cys470Ser) c.1334G>C (p.Cys445Ser) c.1277G>C (p.Cys426Ser) | dbSNP |
| 3 | g.30674232G= | CA1354874037 | TGFBR2 | c.1382G= (p.Cys461=) n.2978G= n.260G= c.1457G= (p.Cys486=) c.1409G= (p.Cys470=) c.1334G= (p.Cys445=) c.1277G= (p.Cys426=) | |
| 3 | g.30674232G>T | CA351809144 | TGFBR2 | c.1382G>T (p.Cys461Phe) n.2978G>T n.260G>T c.1457G>T (p.Cys486Phe) c.1409G>T (p.Cys470Phe) c.1334G>T (p.Cys445Phe) c.1277G>T (p.Cys426Phe) | |
| 3 | g.30674233T>A | CA351809145 | TGFBR2 | c.1383T>A (p.Cys461Ter) n.2979T>A n.261T>A c.1458T>A (p.Cys486Ter) c.1410T>A (p.Cys470Ter) c.1335T>A (p.Cys445Ter) c.1278T>A (p.Cys426Ter) | dbSNP |
| 3 | g.30674233T>C | CA432917760 | TGFBR2 | c.1383T>C (p.Cys461=) n.2979T>C n.261T>C c.1458T>C (p.Cys486=) c.1410T>C (p.Cys470=) c.1335T>C (p.Cys445=) c.1278T>C (p.Cys426=) | dbSNP |
| 3 | g.30674233T>G | CA351809146 | TGFBR2 | c.1383T>G (p.Cys461Trp) n.2979T>G n.261T>G c.1458T>G (p.Cys486Trp) c.1410T>G (p.Cys470Trp) c.1335T>G (p.Cys445Trp) c.1278T>G (p.Cys426Trp) | |
| 3 | g.30674234A>C | CA351809147 | TGFBR2 | c.1384A>C (p.Asn462His) n.2980A>C n.262A>C c.1459A>C (p.Asn487His) c.1411A>C (p.Asn471His) c.1336A>C (p.Asn446His) c.1279A>C (p.Asn427His) | |
| 3 | g.30674234A>G | CA351809148 | TGFBR2 | c.1384A>G (p.Asn462Asp) n.2980A>G n.262A>G c.1459A>G (p.Asn487Asp) c.1411A>G (p.Asn471Asp) c.1336A>G (p.Asn446Asp) c.1279A>G (p.Asn427Asp) | |
| 3 | g.30674234A>T | CA351809149 | TGFBR2 | c.1384A>T (p.Asn462Tyr) n.2980A>T n.262A>T c.1459A>T (p.Asn487Tyr) c.1411A>T (p.Asn471Tyr) c.1336A>T (p.Asn446Tyr) c.1279A>T (p.Asn427Tyr) | dbSNP |
| 3 | g.30674235A>C | CA351809150 | TGFBR2 | c.1385A>C (p.Asn462Thr) n.2981A>C n.263A>C c.1460A>C (p.Asn487Thr) c.1412A>C (p.Asn471Thr) c.1337A>C (p.Asn446Thr) c.1280A>C (p.Asn427Thr) | |
| 3 | g.30674235A>G | CA351809152 | TGFBR2 | c.1385A>G (p.Asn462Ser) n.2981A>G n.263A>G c.1460A>G (p.Asn487Ser) c.1412A>G (p.Asn471Ser) c.1337A>G (p.Asn446Ser) c.1280A>G (p.Asn427Ser) | |
| 3 | g.30674235A>T | CA351809151 | TGFBR2 | c.1385A>T (p.Asn462Ile) n.2981A>T n.263A>T c.1460A>T (p.Asn487Ile) c.1412A>T (p.Asn471Ile) c.1337A>T (p.Asn446Ile) c.1280A>T (p.Asn427Ile) | |
| 3 | g.30674236T>A | CA351809153 | TGFBR2 | c.1386T>A (p.Asn462Lys) n.2982T>A n.264T>A c.1461T>A (p.Asn487Lys) c.1413T>A (p.Asn471Lys) c.1338T>A (p.Asn446Lys) c.1281T>A (p.Asn427Lys) | dbSNP |
| 3 | g.30674236T>C | CA432917761 | TGFBR2 | c.1386T>C (p.Asn462=) n.2982T>C n.264T>C c.1461T>C (p.Asn487=) c.1413T>C (p.Asn471=) c.1338T>C (p.Asn446=) c.1281T>C (p.Asn427=) | ClinVar |
| 3 | g.30674236T>G | CA351809154 | TGFBR2 | c.1386T>G (p.Asn462Lys) n.2982T>G n.264T>G c.1461T>G (p.Asn487Lys) c.1413T>G (p.Asn471Lys) c.1338T>G (p.Asn446Lys) c.1281T>G (p.Asn427Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30674237G>A | CA351809155 | TGFBR2 | c.1387G>A (p.Ala463Thr) n.2983G>A n.265G>A c.1462G>A (p.Ala488Thr) c.1414G>A (p.Ala472Thr) c.1339G>A (p.Ala447Thr) c.1282G>A (p.Ala428Thr) | dbSNP |
| 3 | g.30674237G>C | CA351809157 | TGFBR2 | c.1387G>C (p.Ala463Pro) n.2983G>C n.265G>C c.1462G>C (p.Ala488Pro) c.1414G>C (p.Ala472Pro) c.1339G>C (p.Ala447Pro) c.1282G>C (p.Ala428Pro) | |
| 3 | g.30674237G>T | CA351809156 | TGFBR2 | c.1387G>T (p.Ala463Ser) n.2983G>T n.265G>T c.1462G>T (p.Ala488Ser) c.1414G>T (p.Ala472Ser) c.1339G>T (p.Ala447Ser) c.1282G>T (p.Ala428Ser) | dbSNP |
| 3 | g.30674238C>A | CA351809158 | TGFBR2 | c.1388C>A (p.Ala463Glu) n.2984C>A n.266C>A c.1463C>A (p.Ala488Glu) c.1415C>A (p.Ala472Glu) c.1340C>A (p.Ala447Glu) c.1283C>A (p.Ala428Glu) | |
| 3 | g.30674238C>G | CA351809160 | TGFBR2 | c.1388C>G (p.Ala463Gly) n.2984C>G n.266C>G c.1463C>G (p.Ala488Gly) c.1415C>G (p.Ala472Gly) c.1340C>G (p.Ala447Gly) c.1283C>G (p.Ala428Gly) | dbSNP |
| 3 | g.30674238C>T | CA351809159 | TGFBR2 | c.1388C>T (p.Ala463Val) n.2984C>T n.266C>T c.1463C>T (p.Ala488Val) c.1415C>T (p.Ala472Val) c.1340C>T (p.Ala447Val) c.1283C>T (p.Ala428Val) | dbSNP |
| 3 | g.30674239A= | CA1354874038 | TGFBR2 | c.1389A= (p.Ala463=) n.2985A= n.267A= c.1464A= (p.Ala488=) c.1416A= (p.Ala472=) c.1341A= (p.Ala447=) c.1284A= (p.Ala428=) | |
| 3 | g.30674239A>C | CA046400 | TGFBR2 | c.1389A>C (p.Ala463=) n.2985A>C n.267A>C c.1464A>C (p.Ala488=) c.1416A>C (p.Ala472=) c.1341A>C (p.Ala447=) c.1284A>C (p.Ala428=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30674239A>G | CA432917762 | TGFBR2 | c.1389A>G (p.Ala463=) n.2985A>G n.267A>G c.1464A>G (p.Ala488=) c.1416A>G (p.Ala472=) c.1341A>G (p.Ala447=) c.1284A>G (p.Ala428=) | dbSNP COSMIC COSMIC |
| 3 | g.30674239A>T | CA432917763 | TGFBR2 | c.1389A>T (p.Ala463=) n.2985A>T n.267A>T c.1464A>T (p.Ala488=) c.1416A>T (p.Ala472=) c.1341A>T (p.Ala447=) c.1284A>T (p.Ala428=) | |
| 3 | g.30674240G>A | CA351809161 | TGFBR2 | c.1390G>A (p.Val464Met) n.2986G>A n.268G>A c.1465G>A (p.Val489Met) c.1417G>A (p.Val473Met) c.1342G>A (p.Val448Met) c.1285G>A (p.Val429Met) | dbSNP |
| 3 | g.30674240G>C | CA351809162 | TGFBR2 | c.1390G>C (p.Val464Leu) n.2986G>C n.268G>C c.1465G>C (p.Val489Leu) c.1417G>C (p.Val473Leu) c.1342G>C (p.Val448Leu) c.1285G>C (p.Val429Leu) | dbSNP |
| 3 | g.30674240G>T | CA351809163 | TGFBR2 | c.1390G>T (p.Val464Leu) n.2986G>T n.268G>T c.1465G>T (p.Val489Leu) c.1417G>T (p.Val473Leu) c.1342G>T (p.Val448Leu) c.1285G>T (p.Val429Leu) | |
| 3 | g.30674241T>A | CA351809164 | TGFBR2 | c.1391T>A (p.Val464Glu) n.2987T>A n.269T>A c.1466T>A (p.Val489Glu) c.1418T>A (p.Val473Glu) c.1343T>A (p.Val448Glu) c.1286T>A (p.Val429Glu) | dbSNP |
| 3 | g.30674241T>C | CA351809165 | TGFBR2 | c.1391T>C (p.Val464Ala) n.2987T>C n.269T>C c.1466T>C (p.Val489Ala) c.1418T>C (p.Val473Ala) c.1343T>C (p.Val448Ala) c.1286T>C (p.Val429Ala) | |
| 3 | g.30674241T>G | CA351809166 | TGFBR2 | c.1391T>G (p.Val464Gly) n.2987T>G n.269T>G c.1466T>G (p.Val489Gly) c.1418T>G (p.Val473Gly) c.1343T>G (p.Val448Gly) c.1286T>G (p.Val429Gly) | |
| 3 | g.30674242G>A | CA432917764 | TGFBR2 | c.1392G>A (p.Val464=) n.2988G>A n.270G>A c.1467G>A (p.Val489=) c.1419G>A (p.Val473=) c.1344G>A (p.Val448=) c.1287G>A (p.Val429=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30674242G>C | CA432917765 | TGFBR2 | c.1392G>C (p.Val464=) n.2988G>C n.270G>C c.1467G>C (p.Val489=) c.1419G>C (p.Val473=) c.1344G>C (p.Val448=) c.1287G>C (p.Val429=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30674242G= | CA1354874039 | TGFBR2 | c.1392G= (p.Val464=) n.2988G= n.270G= c.1467G= (p.Val489=) c.1419G= (p.Val473=) c.1344G= (p.Val448=) c.1287G= (p.Val429=) | |
| 3 | g.30674242G>T | CA432917766 | TGFBR2 | c.1392G>T (p.Val464=) n.2988G>T n.270G>T c.1467G>T (p.Val489=) c.1419G>T (p.Val473=) c.1344G>T (p.Val448=) c.1287G>T (p.Val429=) | |
| 3 | g.30674243G>A | CA351809167 | TGFBR2 | c.1393G>A (p.Gly465Arg) n.2989G>A n.271G>A c.1468G>A (p.Gly490Arg) c.1420G>A (p.Gly474Arg) c.1345G>A (p.Gly449Arg) c.1288G>A (p.Gly430Arg) | gnomAD v4 |
| 3 | g.30674243G>C | CA351809168 | TGFBR2 | c.1393G>C (p.Gly465Arg) n.2989G>C n.271G>C c.1468G>C (p.Gly490Arg) c.1420G>C (p.Gly474Arg) c.1345G>C (p.Gly449Arg) c.1288G>C (p.Gly430Arg) | |
| 3 | g.30674243G= | CA1354874040 | TGFBR2 | c.1393G= (p.Gly465=) n.2989G= n.271G= c.1468G= (p.Gly490=) c.1420G= (p.Gly474=) c.1345G= (p.Gly449=) c.1288G= (p.Gly430=) | |
| 3 | g.30674243G>T | CA046409 | TGFBR2 | c.1393G>T (p.Gly465Ter) n.2989G>T n.271G>T c.1468G>T (p.Gly490Ter) c.1420G>T (p.Gly474Ter) c.1345G>T (p.Gly449Ter) c.1288G>T (p.Gly430Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30674244G>A | CA351809171 | TGFBR2 | c.1394G>A (p.Gly465Glu) n.2990G>A n.272G>A c.1469G>A (p.Gly490Glu) c.1421G>A (p.Gly474Glu) c.1346G>A (p.Gly449Glu) c.1289G>A (p.Gly430Glu) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30674244G>C | CA351809170 | TGFBR2 | c.1394G>C (p.Gly465Ala) n.2990G>C n.272G>C c.1469G>C (p.Gly490Ala) c.1421G>C (p.Gly474Ala) c.1346G>C (p.Gly449Ala) c.1289G>C (p.Gly430Ala) | dbSNP |
| 3 | g.30674244G>T | CA351809169 | TGFBR2 | c.1394G>T (p.Gly465Val) n.2990G>T n.272G>T c.1469G>T (p.Gly490Val) c.1421G>T (p.Gly474Val) c.1346G>T (p.Gly449Val) c.1289G>T (p.Gly430Val) |