ClinVar Miner

List of variants in gene TGFBR1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 520
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HGVS dbSNP gnomAD frequency
NM_004612.4(TGFBR1):c.*884A>G rs334348 0.28211
NM_004612.4(TGFBR1):c.1255+24G>A rs334354 0.22164
NM_004612.4(TGFBR1):c.*69A>G rs868 0.17222
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_004612.4(TGFBR1):c.1152C>T (p.Leu384=) rs115324990 0.00207
NM_004612.4(TGFBR1):c.1387-14dup rs863223800 0.00145
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_004612.4(TGFBR1):c.192A>G (p.Lys64=) rs112051451 0.00081
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met) rs1021523079 0.00055
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_004612.4(TGFBR1):c.810T>C (p.Asn270=) rs147388628 0.00024
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) rs192662552 0.00022
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750 0.00022
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=) rs878854714 0.00020
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) rs145033378 0.00019
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 0.00019
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=) rs200062984 0.00016
NM_004612.4(TGFBR1):c.1497A>G (p.Glu499=) rs200055681 0.00013
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro) rs147146713 0.00012
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) rs201267786 0.00011
NM_004612.4(TGFBR1):c.973+19C>A rs183796807 0.00011
NM_004612.4(TGFBR1):c.1210A>G (p.Met404Val) rs143435050 0.00008
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His) rs201745016 0.00007
NM_004612.4(TGFBR1):c.1141C>T (p.Pro381Ser) rs760555508 0.00006
NM_004612.4(TGFBR1):c.1301C>G (p.Ser434Cys) rs886039078 0.00006
NM_004612.4(TGFBR1):c.574+18C>T rs370062838 0.00006
NM_004612.4(TGFBR1):c.94A>G (p.Thr32Ala) rs1319771049 0.00006
NM_004612.4(TGFBR1):c.973+9A>G rs763793570 0.00006
NM_004612.4(TGFBR1):c.1040G>C (p.Cys347Ser) rs113786548 0.00005
NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val) rs202010361 0.00005
NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=) rs758280185 0.00004
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser) rs201050937 0.00004
NM_004612.4(TGFBR1):c.135T>C (p.Asn45=) rs369226180 0.00004
NM_004612.4(TGFBR1):c.1479G>A (p.Ser493=) rs144985585 0.00004
NM_004612.4(TGFBR1):c.318C>T (p.Cys106=) rs149417020 0.00004
NM_004612.4(TGFBR1):c.1256-13T>A rs200979110 0.00003
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser) rs387906696 0.00003
NM_004612.4(TGFBR1):c.56C>T (p.Ala19Val) rs1217107691 0.00003
NM_004612.4(TGFBR1):c.87G>C (p.Pro29=) rs1246631676 0.00003
NM_004612.4(TGFBR1):c.926C>T (p.Thr309Met) rs200518416 0.00003
NM_004612.4(TGFBR1):c.930G>A (p.Ala310=) rs139090459 0.00003
NM_004612.4(TGFBR1):c.933C>T (p.Ser311=) rs200912890 0.00003
NM_004612.4(TGFBR1):c.1256-17T>G rs766657892 0.00002
NM_004612.4(TGFBR1):c.1275A>G (p.Gln425=) rs753301297 0.00002
NM_004612.4(TGFBR1):c.1387-16T>A rs199541766 0.00002
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr) rs766157497 0.00002
NM_004612.4(TGFBR1):c.292A>T (p.Thr98Ser) rs780295872 0.00002
NM_004612.4(TGFBR1):c.343+3A>G rs374717754 0.00002
NM_004612.4(TGFBR1):c.42C>T (p.Leu14=) rs1473259643 0.00002
NM_004612.4(TGFBR1):c.495A>G (p.Ser165=) rs753147276 0.00002
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His) rs777965779 0.00002
NM_004612.4(TGFBR1):c.516A>G (p.Ser172=) rs140245968 0.00002
NM_004612.4(TGFBR1):c.575-18A>G rs1462573406 0.00002
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val) rs200018073 0.00002
NM_004612.4(TGFBR1):c.71C>T (p.Ala24Val) rs992252059 0.00002
NM_004612.4(TGFBR1):c.98-5T>C rs771169283 0.00002
NM_004612.4(TGFBR1):c.98-6T>C rs749295577 0.00002
NM_004612.4(TGFBR1):c.1008A>G (p.Ser336=) rs761512764 0.00001
NM_004612.4(TGFBR1):c.1104T>G (p.Ala368=) rs1060504426 0.00001
NM_004612.4(TGFBR1):c.1131-8T>A rs1827799094 0.00001
NM_004612.4(TGFBR1):c.1138G>C (p.Ala380Pro) rs746666082 0.00001
NM_004612.4(TGFBR1):c.1211T>C (p.Met404Thr) rs1241201708 0.00001
NM_004612.4(TGFBR1):c.1219G>T (p.Val407Leu) rs146549837 0.00001
NM_004612.4(TGFBR1):c.1236T>G (p.Ala412=) rs895357571 0.00001
NM_004612.4(TGFBR1):c.1255+11C>G rs751914671 0.00001
NM_004612.4(TGFBR1):c.1256-3C>T rs755431191 0.00001
NM_004612.4(TGFBR1):c.1256-8T>C rs1187207740 0.00001
NM_004612.4(TGFBR1):c.1357A>G (p.Asn453Asp) rs1827844869 0.00001
NM_004612.4(TGFBR1):c.1386+6T>C rs1375191528 0.00001
NM_004612.4(TGFBR1):c.1386+9T>C rs1404023604 0.00001
NM_004612.4(TGFBR1):c.1387-8T>C rs768669432 0.00001
NM_004612.4(TGFBR1):c.1425G>T (p.Trp475Cys) rs767589799 0.00001
NM_004612.4(TGFBR1):c.1435G>A (p.Gly479Arg) rs377194685 0.00001
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875 0.00001
NM_004612.4(TGFBR1):c.187G>A (p.Asp63Asn) rs200779997 0.00001
NM_004612.4(TGFBR1):c.220G>A (p.Glu74Lys) rs998268148 0.00001
NM_004612.4(TGFBR1):c.249G>A (p.Pro83=) rs200091200 0.00001
NM_004612.4(TGFBR1):c.304A>G (p.Asn102Asp) rs769320006 0.00001
NM_004612.4(TGFBR1):c.344-16C>T rs186017492 0.00001
NM_004612.4(TGFBR1):c.345A>G (p.Val115=) rs766347880 0.00001
NM_004612.4(TGFBR1):c.376C>G (p.Leu126Val) rs756586874 0.00001
NM_004612.4(TGFBR1):c.400G>A (p.Val134Met) rs730880222 0.00001
NM_004612.4(TGFBR1):c.434T>G (p.Val145Gly) rs775267361 0.00001
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys) rs776680716 0.00001
NM_004612.4(TGFBR1):c.466C>T (p.His156Tyr) rs1184553647 0.00001
NM_004612.4(TGFBR1):c.480T>C (p.Asn160=) rs1234201885 0.00001
NM_004612.4(TGFBR1):c.502C>T (p.Arg168Cys) rs1057519144 0.00001
NM_004612.4(TGFBR1):c.508T>G (p.Phe170Val) rs1827278456 0.00001
NM_004612.4(TGFBR1):c.527C>T (p.Thr176Met) rs745324433 0.00001
NM_004612.4(TGFBR1):c.52G>A (p.Ala18Thr) rs1243596219 0.00001
NM_004612.4(TGFBR1):c.561A>G (p.Ser187=) rs1315925147 0.00001
NM_004612.4(TGFBR1):c.575-6C>T rs768187352 0.00001
NM_004612.4(TGFBR1):c.606G>A (p.Ala202=) rs201497553 0.00001
NM_004612.4(TGFBR1):c.714A>C (p.Glu238Asp) rs1827490717 0.00001
NM_004612.4(TGFBR1):c.718C>T (p.Arg240Cys) rs775429965 0.00001
NM_004612.4(TGFBR1):c.720T>C (p.Arg240=) rs200078591 0.00001
NM_004612.4(TGFBR1):c.805+11T>A rs1445515504 0.00001
NM_004612.4(TGFBR1):c.813T>C (p.Gly271=) rs200511345 0.00001
NM_004612.4(TGFBR1):c.816T>C (p.Thr272=) rs1827646085 0.00001
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) rs755827803 0.00001
NM_004612.4(TGFBR1):c.883T>A (p.Tyr295Asn) rs200560562 0.00001
NM_004612.4(TGFBR1):c.888A>G (p.Thr296=) rs201943631 0.00001
NM_004612.4(TGFBR1):c.889G>A (p.Val297Ile) rs757284158 0.00001
NM_004612.4(TGFBR1):c.88G>C (p.Gly30Arg) rs1826374374 0.00001
NM_004612.4(TGFBR1):c.897G>A (p.Val299=) rs369881419 0.00001
NM_004612.4(TGFBR1):c.89G>T (p.Gly30Val) rs1381354900 0.00001
NM_004612.4(TGFBR1):c.927G>A (p.Thr309=) rs201323409 0.00001
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 0.00001
NM_004612.4(TGFBR1):c.969C>T (p.Thr323=) rs1192456677 0.00001
NM_004612.4(TGFBR1):c.97+14C>T rs1198082830 0.00001
NM_004612.4(TGFBR1):c.977A>G (p.Lys326Arg) rs863223834 0.00001
NM_004612.4(TGFBR1):c.99G>A (p.Ala33=) rs779055286 0.00001
NC_000009.11:g.(?_101867488)_(101867604_?)del
NC_000009.11:g.(?_101900131)_(101900381_?)dup
NC_000009.11:g.(?_101900318)_(101903694_?)del
NC_000009.12:g.(?_99137839)_(99138109_?)del
NC_000009.12:g.(?_99142526)_(99150189_?)del
NM_004612.4(TGFBR1):c.1005A>T (p.Lys335Asn) rs2118804176
NM_004612.4(TGFBR1):c.102A>G (p.Leu34=) rs2118563191
NM_004612.4(TGFBR1):c.102dup (p.Gln35fs) rs2118563240
NM_004612.4(TGFBR1):c.1033G>A (p.Gly345Arg) rs1554701900
NM_004612.4(TGFBR1):c.1038T>G (p.Thr346=) rs2118804875
NM_004612.4(TGFBR1):c.1041C>G (p.Cys347Trp) rs886039015
NM_004612.4(TGFBR1):c.1043G>A (p.Cys348Tyr)
NM_004612.4(TGFBR1):c.1048G>T (p.Ala350Ser) rs1827740730
NM_004612.4(TGFBR1):c.1057G>A (p.Gly353Arg)
NM_004612.4(TGFBR1):c.1063G>A (p.Ala355Thr)
NM_004612.4(TGFBR1):c.1063G>C (p.Ala355Pro)
NM_004612.4(TGFBR1):c.1071A>G (p.Arg357=) rs2118806030
NM_004612.4(TGFBR1):c.1080A>C (p.Ser360=)
NM_004612.4(TGFBR1):c.1083del (p.Thr362fs)
NM_004612.4(TGFBR1):c.1091C>T (p.Thr364Ile) rs201050937
NM_004612.4(TGFBR1):c.1092C>T (p.Thr364=)
NM_004612.4(TGFBR1):c.1104T>C (p.Ala368=)
NM_004612.4(TGFBR1):c.1107A>C (p.Pro369=) rs1827742534
NM_004612.4(TGFBR1):c.1117G>A (p.Val373Met) rs1554701926
NM_004612.4(TGFBR1):c.1121G>A (p.Gly374Glu) rs1554701930
NM_004612.4(TGFBR1):c.1125A>G (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.1126A>G (p.Lys376Glu) rs2118807458
NM_004612.4(TGFBR1):c.1130+14C>A
NM_004612.4(TGFBR1):c.1130+16A>C rs2118807823
NM_004612.4(TGFBR1):c.1130+19A>G
NM_004612.4(TGFBR1):c.1130+20T>G
NM_004612.4(TGFBR1):c.1130+7T>G rs2118807692
NM_004612.4(TGFBR1):c.1130+9T>C
NM_004612.4(TGFBR1):c.1131-11A>T
NM_004612.4(TGFBR1):c.1131-12A>C
NM_004612.4(TGFBR1):c.1131-16T>C
NM_004612.4(TGFBR1):c.1131-19T>G
NM_004612.4(TGFBR1):c.1131-3T>C rs2118826404
NM_004612.4(TGFBR1):c.1131-3del
NM_004612.4(TGFBR1):c.1131-3dup
NM_004612.4(TGFBR1):c.1131-8T>C
NM_004612.4(TGFBR1):c.1131-8T>G rs1827799094
NM_004612.4(TGFBR1):c.1135A>G (p.Met379Val) rs1554702207
NM_004612.4(TGFBR1):c.1136T>C (p.Met379Thr) rs886039004
NM_004612.4(TGFBR1):c.1138G>T (p.Ala380Ser) rs746666082
NM_004612.4(TGFBR1):c.1143T>C (p.Pro381=)
NM_004612.4(TGFBR1):c.1144G>A (p.Glu382Lys) rs863223824
NM_004612.4(TGFBR1):c.1152C>G (p.Leu384=)
NM_004612.4(TGFBR1):c.1153G>A (p.Asp385Asn)
NM_004612.4(TGFBR1):c.115C>T (p.His39Tyr)
NM_004612.4(TGFBR1):c.1165A>G (p.Asn389Asp)
NM_004612.4(TGFBR1):c.1173A>G (p.Lys391=)
NM_004612.4(TGFBR1):c.117C>A (p.His39Gln)
NM_004612.4(TGFBR1):c.1180G>A (p.Glu394Lys) rs1564174278
NM_004612.4(TGFBR1):c.1189A>T (p.Lys397Ter)
NM_004612.4(TGFBR1):c.1193G>A (p.Arg398His)
NM_004612.4(TGFBR1):c.1194T>C (p.Arg398=)
NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn) rs2118827924
NM_004612.4(TGFBR1):c.1203C>A (p.Ile401=)
NM_004612.4(TGFBR1):c.1208C>G (p.Ala403Gly)
NM_004612.4(TGFBR1):c.120C>G (p.Leu40=) rs201267786
NM_004612.4(TGFBR1):c.1216T>A (p.Leu406Ile) rs200062984
NM_004612.4(TGFBR1):c.1218A>G (p.Leu406=) rs757399188
NM_004612.4(TGFBR1):c.1222T>A (p.Phe408Ile) rs1827803560
NM_004612.4(TGFBR1):c.1228_1255+1dup
NM_004612.4(TGFBR1):c.1229A>G (p.Glu410Gly) rs1827803661
NM_004612.4(TGFBR1):c.1230A>G (p.Glu410=)
NM_004612.4(TGFBR1):c.1231A>G (p.Ile411Val) rs1554702248
NM_004612.4(TGFBR1):c.1240C>T (p.Arg414Ter) rs387906697
NM_004612.4(TGFBR1):c.1255+16C>T
NM_004612.4(TGFBR1):c.1255+19C>T
NM_004612.4(TGFBR1):c.1255+22dup
NM_004612.4(TGFBR1):c.1256-12A>T
NM_004612.4(TGFBR1):c.1256-9C>A rs200369181
NM_004612.4(TGFBR1):c.1256-9C>T
NM_004612.4(TGFBR1):c.1268A>G (p.Asp423Gly) rs2118839113
NM_004612.4(TGFBR1):c.126A>G (p.Thr42=) rs1827122219
NM_004612.4(TGFBR1):c.1278G>T (p.Leu426=) rs368928967
NM_004612.4(TGFBR1):c.1280C>G (p.Pro427Arg)
NM_004612.4(TGFBR1):c.1284T>C (p.Tyr428=) rs201163170
NM_004612.4(TGFBR1):c.1286A>G (p.Tyr429Cys) rs1827840874
NM_004612.4(TGFBR1):c.1287T>C (p.Tyr429=) rs1324785971
NM_004612.4(TGFBR1):c.1294G>C (p.Val432Leu) rs2118839576
NM_004612.4(TGFBR1):c.1298C>T (p.Pro433Leu)
NM_004612.4(TGFBR1):c.1301C>T (p.Ser434Phe) rs886039078
NM_004612.4(TGFBR1):c.1307C>A (p.Pro436Gln) rs1131691342
NM_004612.4(TGFBR1):c.1307C>T (p.Pro436Leu) rs1131691342
NM_004612.4(TGFBR1):c.1310C>T (p.Ser437Leu) rs1827842067
NM_004612.4(TGFBR1):c.1311A>C (p.Ser437=) rs1554702468
NM_004612.4(TGFBR1):c.1311A>T (p.Ser437=) rs1554702468
NM_004612.4(TGFBR1):c.1311_1313del (p.Val438del) rs2118840018
NM_004612.4(TGFBR1):c.1321A>C (p.Met441Leu)
NM_004612.4(TGFBR1):c.1322T>G (p.Met441Arg) rs1554702474
NM_004612.4(TGFBR1):c.132C>T (p.Asp44=)
NM_004612.4(TGFBR1):c.1342dup (p.Gln448fs) rs1827843537
NM_004612.4(TGFBR1):c.1346A>G (p.Lys449Arg) rs1564176059
NM_004612.4(TGFBR1):c.1348_1352del (p.Leu450fs)
NM_004612.4(TGFBR1):c.1351A>G (p.Arg451Gly) rs2118840572
NM_004612.4(TGFBR1):c.1355C>G (p.Pro452Arg) rs1827844675
NM_004612.4(TGFBR1):c.1385A>G (p.Glu462Gly) rs2118841118
NM_004612.4(TGFBR1):c.1386+17G>T
NM_004612.4(TGFBR1):c.1386+6del
NM_004612.4(TGFBR1):c.1386+8T>A rs2118841327
NM_004612.4(TGFBR1):c.1386dup (p.Ala463fs) rs2118841181
NM_004612.4(TGFBR1):c.1387-14A>T rs201772204
NM_004612.4(TGFBR1):c.1387-15T>A rs200789509
NM_004612.4(TGFBR1):c.1387-4G>A rs397517031
NM_004612.4(TGFBR1):c.1387-4G>C
NM_004612.4(TGFBR1):c.1387-7C>A
NM_004612.4(TGFBR1):c.1387G>A (p.Ala463Thr)
NM_004612.4(TGFBR1):c.1391dup (p.Leu464fs)
NM_004612.4(TGFBR1):c.1392G>A (p.Leu464=) rs1588598532
NM_004612.4(TGFBR1):c.1398A>G (p.Val466=)
NM_004612.4(TGFBR1):c.1402G>A (p.Ala468Thr)
NM_004612.4(TGFBR1):c.1404T>C (p.Ala468=) rs2118855398
NM_004612.4(TGFBR1):c.1408A>G (p.Ile470Val)
NM_004612.4(TGFBR1):c.1414A>C (p.Arg472=)
NM_004612.4(TGFBR1):c.1415G>A (p.Arg472Lys) rs1554702716
NM_004612.4(TGFBR1):c.1416A>G (p.Arg472=)
NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr) rs1827899415
NM_004612.4(TGFBR1):c.1424G>C (p.Trp475Ser)
NM_004612.4(TGFBR1):c.1438G>A (p.Ala480Thr)
NM_004612.4(TGFBR1):c.1438G>C (p.Ala480Pro) rs925777307
NM_004612.4(TGFBR1):c.1443T>C (p.Ala481=) rs886063225
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) rs730880223
NM_004612.4(TGFBR1):c.1446G>A (p.Arg482=) rs1588598651
NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser) rs1588598651
NM_004612.4(TGFBR1):c.1447C>T (p.Leu483Phe) rs1554702734
NM_004612.4(TGFBR1):c.1448T>G (p.Leu483Arg) rs2118857318
NM_004612.4(TGFBR1):c.1449dup (p.Thr484fs)
NM_004612.4(TGFBR1):c.1453_1473del (p.Ala485_Thr491del) rs1827902114
NM_004612.4(TGFBR1):c.1455A>G (p.Ala485=)
NM_004612.4(TGFBR1):c.1456T>C (p.Leu486=) rs111818778
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser) rs886039176
NM_004612.4(TGFBR1):c.1459C>G (p.Arg487Gly) rs111426349
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.4(TGFBR1):c.1465A>G (p.Lys489Glu) rs1554702748
NM_004612.4(TGFBR1):c.1474T>A (p.Leu492Ile) rs2118858959
NM_004612.4(TGFBR1):c.1475_1477del (p.Leu492del)
NM_004612.4(TGFBR1):c.1476A>G (p.Leu492=)
NM_004612.4(TGFBR1):c.1483C>T (p.Leu495Phe)
NM_004612.4(TGFBR1):c.149C>G (p.Thr50Arg) rs1588576221
NM_004612.4(TGFBR1):c.156G>A (p.Gly52=)
NM_004612.4(TGFBR1):c.156G>C (p.Gly52=)
NM_004612.4(TGFBR1):c.159C>T (p.Leu53=)
NM_004612.4(TGFBR1):c.162C>T (p.Cys54=)
NM_004612.4(TGFBR1):c.170C>G (p.Ser57Cys)
NM_004612.4(TGFBR1):c.176C>T (p.Thr59Ile)
NM_004612.4(TGFBR1):c.180G>C (p.Glu60Asp) rs1171355842
NM_004612.4(TGFBR1):c.191A>G (p.Lys64Arg) rs886042300
NM_004612.4(TGFBR1):c.203A>G (p.Asn68Ser) rs727503469
NM_004612.4(TGFBR1):c.204C>T (p.Asn68=) rs1057521532
NM_004612.4(TGFBR1):c.236_237insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGAATGATCACCTGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTGACTTAATTCC (p.Pro79_Arg80insAlaGlyArgGlyGlySerArgLeuTer)
NM_004612.4(TGFBR1):c.237T>C (p.Pro79=)
NM_004612.4(TGFBR1):c.238C>T (p.Arg80Ter) rs1827126921
NM_004612.4(TGFBR1):c.239G>A (p.Arg80Gln) rs1368326650
NM_004612.4(TGFBR1):c.240A>G (p.Arg80=)
NM_004612.4(TGFBR1):c.243T>C (p.Asp81=)
NM_004612.4(TGFBR1):c.248C>T (p.Pro83Leu) rs757374917
NM_004612.4(TGFBR1):c.255A>G (p.Val85=)
NM_004612.4(TGFBR1):c.257G>A (p.Cys86Tyr) rs2118570305
NM_004612.4(TGFBR1):c.281C>G (p.Ser94Cys)
NM_004612.4(TGFBR1):c.283G>A (p.Val95Met) rs1827129569
NM_004612.4(TGFBR1):c.294A>G (p.Thr98=) rs747332492
NM_004612.4(TGFBR1):c.300C>T (p.Cys100=) rs2118574233
NM_004612.4(TGFBR1):c.304A>C (p.Asn102His)
NM_004612.4(TGFBR1):c.305A>G (p.Asn102Ser)
NM_004612.4(TGFBR1):c.307C>G (p.Gln103Glu) rs1827131236
NM_004612.4(TGFBR1):c.320A>G (p.Asn107Ser)
NM_004612.4(TGFBR1):c.331C>G (p.Leu111Val) rs1244225435
NM_004612.4(TGFBR1):c.331C>T (p.Leu111Phe)
NM_004612.4(TGFBR1):c.337A>G (p.Thr113Ala) rs762573778
NM_004612.4(TGFBR1):c.342T>A (p.Thr114=) rs371415976
NM_004612.4(TGFBR1):c.343+12A>G
NM_004612.4(TGFBR1):c.343+14A>C
NM_004612.4(TGFBR1):c.343+15A>T
NM_004612.4(TGFBR1):c.343+16T>A
NM_004612.4(TGFBR1):c.343+1G>A
NM_004612.4(TGFBR1):c.343+21_343+22del rs1321978114
NM_004612.4(TGFBR1):c.343+22dup
NM_004612.4(TGFBR1):c.343+5G>C rs2118576878
NM_004612.4(TGFBR1):c.344-13G>A rs1300742771
NM_004612.4(TGFBR1):c.344-16C>G rs186017492
NM_004612.4(TGFBR1):c.344-2A>G
NM_004612.4(TGFBR1):c.346A>G (p.Lys116Glu) rs1827266142
NM_004612.4(TGFBR1):c.351A>G (p.Ser117=) rs949763129
NM_004612.4(TGFBR1):c.359G>A (p.Gly120Asp) rs1827267269
NM_004612.4(TGFBR1):c.368C>T (p.Pro123Leu) rs878854713
NM_004612.4(TGFBR1):c.369T>G (p.Pro123=) rs773635581
NM_004612.4(TGFBR1):c.36G>A (p.Leu12=) rs2118164001
NM_004612.4(TGFBR1):c.376C>T (p.Leu126=)
NM_004612.4(TGFBR1):c.378G>A (p.Leu126=)
NM_004612.4(TGFBR1):c.37CTC[4] (p.Leu15_Val16insLeu)
NM_004612.4(TGFBR1):c.387C>G (p.Val129=)
NM_004612.4(TGFBR1):c.392C>G (p.Ala131Gly)
NM_004612.4(TGFBR1):c.396A>G (p.Gly132=)
NM_004612.4(TGFBR1):c.398C>T (p.Pro133Leu) rs1827269407
NM_004612.4(TGFBR1):c.39C>G (p.Leu13=)
NM_004612.4(TGFBR1):c.400G>C (p.Val134Leu)
NM_004612.4(TGFBR1):c.408C>T (p.Phe136=) rs773845018
NM_004612.4(TGFBR1):c.409G>A (p.Val137Ile) rs745576967
NM_004612.4(TGFBR1):c.410T>C (p.Val137Ala)
NM_004612.4(TGFBR1):c.414C>T (p.Cys138=) rs1827270962
NM_004612.4(TGFBR1):c.419C>T (p.Ser140Leu) rs1057524105
NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro) rs1826371375
NM_004612.4(TGFBR1):c.424A>T (p.Met142Leu) rs1029455360
NM_004612.4(TGFBR1):c.426G>A (p.Met142Ile)
NM_004612.4(TGFBR1):c.430A>G (p.Met144Val) rs1827272468
NM_004612.4(TGFBR1):c.435C>G (p.Val145=)
NM_004612.4(TGFBR1):c.43C>T (p.Leu15Phe)
NM_004612.4(TGFBR1):c.445C>G (p.His149Asp)
NM_004612.4(TGFBR1):c.449A>G (p.Asn150Ser) rs945370154
NM_004612.4(TGFBR1):c.452G>A (p.Arg151His)
NM_004612.4(TGFBR1):c.45C>T (p.Leu15=)
NM_004612.4(TGFBR1):c.460A>G (p.Ile154Val)
NM_004612.4(TGFBR1):c.463C>G (p.His155Asp) rs751679796
NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter) rs1060502040
NM_004612.4(TGFBR1):c.471A>T (p.Arg157=) rs1827275983
NM_004612.4(TGFBR1):c.483A>G (p.Glu161=)
NM_004612.4(TGFBR1):c.500A>C (p.Asp167Ala) rs1060502044
NM_004612.4(TGFBR1):c.516dup (p.Glu173fs) rs2118630690
NM_004612.4(TGFBR1):c.51G>C (p.Leu17=)
NM_004612.4(TGFBR1):c.525T>A (p.Thr175=) rs1564154343
NM_004612.4(TGFBR1):c.529T>C (p.Leu177=) rs1827279899
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[12] (p.Ala24_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[13] (p.Ala23_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[14] (p.Ala22_Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.52GCG[3] (p.Ala21_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[4] (p.Ala22_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[5] (p.Ala23_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[7] (p.Ala25_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) rs11466445
NM_004612.4(TGFBR1):c.555A>G (p.Thr185=)
NM_004612.4(TGFBR1):c.558G>A (p.Thr186=) rs538382054
NM_004612.4(TGFBR1):c.569G>A (p.Gly190Asp) rs2118632040
NM_004612.4(TGFBR1):c.574+12G>A
NM_004612.4(TGFBR1):c.574+13T>C
NM_004612.4(TGFBR1):c.574+1G>A
NM_004612.4(TGFBR1):c.574+6A>G
NM_004612.4(TGFBR1):c.574+7_574+8del
NM_004612.4(TGFBR1):c.575-1G>C rs2118707001
NM_004612.4(TGFBR1):c.575-5T>G rs1025639851
NM_004612.4(TGFBR1):c.575-9dup rs863223798
NM_004612.4(TGFBR1):c.575G>T (p.Gly192Val)
NM_004612.4(TGFBR1):c.580C>T (p.Pro194Ser)
NM_004612.4(TGFBR1):c.582A>G (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.582A>T (p.Pro194=) rs200679996
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe) rs863223807
NM_004612.4(TGFBR1):c.588T>G (p.Leu196=)
NM_004612.4(TGFBR1):c.596G>A (p.Arg199Lys) rs397517032
NM_004612.4(TGFBR1):c.59C>T (p.Ala20Val) rs1333080544
NM_004612.4(TGFBR1):c.601A>G (p.Ile201Val) rs781042616
NM_004612.4(TGFBR1):c.602T>C (p.Ile201Thr)
NM_004612.4(TGFBR1):c.603T>C (p.Ile201=) rs1326484806
NM_004612.4(TGFBR1):c.604G>A (p.Ala202Thr)
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val) rs1564161322
NM_004612.4(TGFBR1):c.611C>T (p.Thr204Ile) rs886039068
NM_004612.4(TGFBR1):c.618G>T (p.Val206=) rs1057523644
NM_004612.4(TGFBR1):c.623A>C (p.Gln208Pro) rs1588585291
NM_004612.4(TGFBR1):c.634G>A (p.Gly212Ser)
NM_004612.4(TGFBR1):c.635G>T (p.Gly212Val)
NM_004612.4(TGFBR1):c.638A>T (p.Lys213Ile)
NM_004612.4(TGFBR1):c.643C>T (p.Arg215Ter)
NM_004612.4(TGFBR1):c.644G>A (p.Arg215Gln) rs2118711787
NM_004612.4(TGFBR1):c.650G>T (p.Gly217Val)
NM_004612.4(TGFBR1):c.651A>G (p.Gly217=) rs1321254948
NM_004612.4(TGFBR1):c.654A>G (p.Glu218=)
NM_004612.4(TGFBR1):c.655G>T (p.Val219Phe) rs863223810
NM_004612.4(TGFBR1):c.658T>G (p.Trp220Gly)
NM_004612.4(TGFBR1):c.665G>A (p.Gly222Glu)
NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp) rs1564161544
NM_004612.4(TGFBR1):c.674G>A (p.Arg225Gln)
NM_004612.4(TGFBR1):c.676G>A (p.Gly226Arg) rs1827486970
NM_004612.4(TGFBR1):c.679G>A (p.Glu227Lys) rs1060502042
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del) rs863223829
NM_004612.4(TGFBR1):c.685G>C (p.Val229Leu)
NM_004612.4(TGFBR1):c.686T>C (p.Val229Ala)
NM_004612.4(TGFBR1):c.690T>C (p.Ala230=)
NM_004612.4(TGFBR1):c.691G>C (p.Val231Leu)
NM_004612.4(TGFBR1):c.694A>T (p.Lys232Ter)
NM_004612.4(TGFBR1):c.699A>T (p.Ile233=)
NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu) rs1060502046
NM_004612.4(TGFBR1):c.702C>T (p.Phe234=) rs202156059
NM_004612.4(TGFBR1):c.702CTC[1] (p.Ser236del) rs863223830
NM_004612.4(TGFBR1):c.704C>T (p.Ser235Phe) rs1554700632
NM_004612.4(TGFBR1):c.705C>G (p.Ser235=) rs1325342802
NM_004612.4(TGFBR1):c.706T>C (p.Ser236Pro)
NM_004612.4(TGFBR1):c.709A>G (p.Arg237Gly) rs863223813
NM_004612.4(TGFBR1):c.70_97+13dup
NM_004612.4(TGFBR1):c.710G>A (p.Arg237Lys) rs1827490566
NM_004612.4(TGFBR1):c.712GAA[1] (p.Glu239del) rs2118716881
NM_004612.4(TGFBR1):c.715G>A (p.Glu239Lys)
NM_004612.4(TGFBR1):c.720T>A (p.Arg240=) rs200078591
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.723G>A (p.Ser241=) rs201112150
NM_004612.4(TGFBR1):c.723G>C (p.Ser241=)
NM_004612.4(TGFBR1):c.725G>C (p.Trp242Ser)
NM_004612.4(TGFBR1):c.725G>T (p.Trp242Leu) rs1564161816
NM_004612.4(TGFBR1):c.731G>C (p.Arg244Pro) rs1329974247
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys) rs1057524497
NM_004612.4(TGFBR1):c.733G>T (p.Glu245Ter) rs1057524497
NM_004612.4(TGFBR1):c.73_81del (p.Ala25_Leu27del) rs948905780
NM_004612.4(TGFBR1):c.742A>T (p.Ile248Phe) rs2118719566
NM_004612.4(TGFBR1):c.744T>C (p.Ile248=)
NM_004612.4(TGFBR1):c.752_806-1129del
NM_004612.4(TGFBR1):c.756A>C (p.Val252=)
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_004612.4(TGFBR1):c.75G>T (p.Ala25=)
NM_004612.4(TGFBR1):c.765T>A (p.Arg255=)
NM_004612.4(TGFBR1):c.767A>G (p.His256Arg) rs1554700666
NM_004612.4(TGFBR1):c.777C>T (p.Ile259=)
NM_004612.4(TGFBR1):c.778C>A (p.Leu260Met)
NM_004612.4(TGFBR1):c.779T>A (p.Leu260Gln) rs397517033
NM_004612.4(TGFBR1):c.779T>C (p.Leu260Pro) rs397517033
NM_004612.4(TGFBR1):c.781G>T (p.Gly261Ter) rs1554700672
NM_004612.4(TGFBR1):c.787A>G (p.Ile263Val) rs1827496536
NM_004612.4(TGFBR1):c.791CAG[1] (p.Ala265del) rs1827496704
NM_004612.4(TGFBR1):c.795A>C (p.Ala265=) rs200158200
NM_004612.4(TGFBR1):c.796G>A (p.Asp266Asn) rs1060502043
NM_004612.4(TGFBR1):c.797A>T (p.Asp266Val)
NM_004612.4(TGFBR1):c.799A>G (p.Asn267Asp) rs727503471
NM_004612.4(TGFBR1):c.805+10A>G rs1588585657
NM_004612.4(TGFBR1):c.805+5G>A rs1827498156
NM_004612.4(TGFBR1):c.805G>A (p.Asp269Asn) rs1564162124
NM_004612.4(TGFBR1):c.806-14A>G
NM_004612.4(TGFBR1):c.806A>G (p.Asp269Gly)
NM_004612.4(TGFBR1):c.809A>G (p.Asn270Ser) rs201475375
NM_004612.4(TGFBR1):c.80_85del (p.Leu27_Leu28del) rs2118166265
NM_004612.4(TGFBR1):c.814A>C (p.Thr272Pro) rs2118776532
NM_004612.4(TGFBR1):c.816T>A (p.Thr272=)
NM_004612.4(TGFBR1):c.820A>C (p.Thr274Pro) rs863223816
NM_004612.4(TGFBR1):c.822T>G (p.Thr274=) rs1588590268
NM_004612.4(TGFBR1):c.824A>G (p.Gln275Arg) rs863223817
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=) rs886063224
NM_004612.4(TGFBR1):c.833dup (p.Leu278fs) rs1827647395
NM_004612.4(TGFBR1):c.835G>C (p.Val279Leu) rs112300506
NM_004612.4(TGFBR1):c.836T>C (p.Val279Ala)
NM_004612.4(TGFBR1):c.839C>G (p.Ser280Ter)
NM_004612.4(TGFBR1):c.843_851del (p.Asp281_His283del)
NM_004612.4(TGFBR1):c.847C>T (p.His283Tyr)
NM_004612.4(TGFBR1):c.848A>G (p.His283Arg) rs1064796037
NM_004612.4(TGFBR1):c.84C>T (p.Leu28=)
NM_004612.4(TGFBR1):c.852G>A (p.Glu284=)
NM_004612.4(TGFBR1):c.85C>T (p.Pro29Ser)
NM_004612.4(TGFBR1):c.860C>A (p.Ser287Tyr) rs863223832
NM_004612.4(TGFBR1):c.860C>T (p.Ser287Phe) rs863223832
NM_004612.4(TGFBR1):c.862C>G (p.Leu288Val)
NM_004612.4(TGFBR1):c.867T>C (p.Phe289=)
NM_004612.4(TGFBR1):c.868G>T (p.Asp290Tyr)
NM_004612.4(TGFBR1):c.873_876del (p.Asp290_Tyr291insTer) rs1554701447
NM_004612.4(TGFBR1):c.882A>G (p.Arg294=)
NM_004612.4(TGFBR1):c.895G>A (p.Val299Met)
NM_004612.4(TGFBR1):c.895G>T (p.Val299Leu) rs199822546
NM_004612.4(TGFBR1):c.899A>G (p.Glu300Gly) rs2118779242
NM_004612.4(TGFBR1):c.903A>G (p.Gly301=)
NM_004612.4(TGFBR1):c.907A>T (p.Ile303Leu)
NM_004612.4(TGFBR1):c.916G>C (p.Ala306Pro)
NM_004612.4(TGFBR1):c.91G>T (p.Ala31Ser)
NM_004612.4(TGFBR1):c.921G>A (p.Leu307=) rs2118779757
NM_004612.4(TGFBR1):c.923C>T (p.Ser308Phe) rs1564168346
NM_004612.4(TGFBR1):c.935G>A (p.Gly312Asp) rs869025535
NM_004612.4(TGFBR1):c.940G>T (p.Ala314Ser) rs1209722877
NM_004612.4(TGFBR1):c.943C>T (p.His315Tyr) rs2118780524
NM_004612.4(TGFBR1):c.944A>G (p.His315Arg) rs1060502045
NM_004612.4(TGFBR1):c.951C>T (p.His317=) rs2118780749
NM_004612.4(TGFBR1):c.952A>G (p.Met318Val) rs752190665
NM_004612.4(TGFBR1):c.952A>T (p.Met318Leu) rs752190665
NM_004612.4(TGFBR1):c.958A>T (p.Ile320Phe) rs760419678
NM_004612.4(TGFBR1):c.959T>A (p.Ile320Asn) rs1554701491
NM_004612.4(TGFBR1):c.961G>T (p.Val321Phe) rs1827655038
NM_004612.4(TGFBR1):c.962T>G (p.Val321Gly)
NM_004612.4(TGFBR1):c.965G>A (p.Gly322Asp) rs863223833
NM_004612.4(TGFBR1):c.97+12C>G
NM_004612.4(TGFBR1):c.97+15GGCG[2]
NM_004612.4(TGFBR1):c.97+15GGCG[4] rs886063221
NM_004612.4(TGFBR1):c.97+16G>A
NM_004612.4(TGFBR1):c.97+17C>A rs2118167539
NM_004612.4(TGFBR1):c.97+18G>A
NM_004612.4(TGFBR1):c.97+26_97+44dup
NM_004612.4(TGFBR1):c.97+27_97+41dup rs1554695435
NM_004612.4(TGFBR1):c.97+2_97+35dup
NM_004612.4(TGFBR1):c.97+3G>A
NM_004612.4(TGFBR1):c.97+4_97+22dup
NM_004612.4(TGFBR1):c.97+6C>T
NM_004612.4(TGFBR1):c.97+7G>A
NM_004612.4(TGFBR1):c.97+7G>C
NM_004612.4(TGFBR1):c.973+17T>A
NM_004612.4(TGFBR1):c.973+17T>C
NM_004612.4(TGFBR1):c.973+19C>G
NM_004612.4(TGFBR1):c.973+1G>T
NM_004612.4(TGFBR1):c.973+7C>T
NM_004612.4(TGFBR1):c.973+9dup rs2118781570
NM_004612.4(TGFBR1):c.974-1G>A rs2118803591
NM_004612.4(TGFBR1):c.974-2A>G rs1554701881
NM_004612.4(TGFBR1):c.974-4T>A
NM_004612.4(TGFBR1):c.974-6C>A
NM_004612.4(TGFBR1):c.98-17T>C
NM_004612.4(TGFBR1):c.98-18A>T
NM_004612.4(TGFBR1):c.98-19A>C
NM_004612.4(TGFBR1):c.98C>G (p.Ala33Gly) rs1554698880
NM_004612.4(TGFBR1):c.992A>C (p.His331Pro)
NM_004612.4(TGFBR1):c.992A>T (p.His331Leu) rs1827738279
NM_004612.4(TGFBR1):c.993T>C (p.His331=)
NM_004612.4(TGFBR1):c.994_999del (p.Arg332_Asp333del) rs727504383

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