UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30672260T>A | CA432917567 | TGFBR2 | c.1077T>A (p.Ala359=) n.2673T>A c.1152T>A (p.Ala384=) c.1104T>A (p.Ala368=) c.1029T>A (p.Ala343=) c.972T>A (p.Ala324=) | dbSNP |
| 3 | g.30672260T>C | CA432917568 | TGFBR2 | c.1077T>C (p.Ala359=) n.2673T>C c.1152T>C (p.Ala384=) c.1104T>C (p.Ala368=) c.1029T>C (p.Ala343=) c.972T>C (p.Ala324=) | ClinVar dbSNP |
| 3 | g.30672260T>G | CA432917566 | TGFBR2 | c.1077T>G (p.Ala359=) n.2673T>G c.1152T>G (p.Ala384=) c.1104T>G (p.Ala368=) c.1029T>G (p.Ala343=) c.972T>G (p.Ala324=) | |
| 3 | g.30672260T= | CA1354873211 | TGFBR2 | c.1077T= (p.Ala359=) n.2673T= c.1152T= (p.Ala384=) c.1104T= (p.Ala368=) c.1029T= (p.Ala343=) c.972T= (p.Ala324=) | |
| 3 | g.30672261C>A | CA351808486 | TGFBR2 | c.1078C>A (p.His360Asn) n.2674C>A c.1153C>A (p.His385Asn) c.1105C>A (p.His369Asn) c.1030C>A (p.His344Asn) c.973C>A (p.His325Asn) | dbSNP |
| 3 | g.30672261C= | CA1354873212 | TGFBR2 | c.1078C= (p.His360=) n.2674C= c.1153C= (p.His385=) c.1105C= (p.His369=) c.1030C= (p.His344=) c.973C= (p.His325=) | |
| 3 | g.30672261C>G | CA045619 | TGFBR2 | c.1078C>G (p.His360Asp) n.2674C>G c.1153C>G (p.His385Asp) c.1105C>G (p.His369Asp) c.1030C>G (p.His344Asp) c.973C>G (p.His325Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672261C>T | CA351808485 | TGFBR2 | c.1078C>T (p.His360Tyr) n.2674C>T c.1153C>T (p.His385Tyr) c.1105C>T (p.His369Tyr) c.1030C>T (p.His344Tyr) c.973C>T (p.His325Tyr) | ClinVar dbSNP |
| 3 | g.30672262A>C | CA351808489 | TGFBR2 | c.1079A>C (p.His360Pro) n.2675A>C c.1154A>C (p.His385Pro) c.1106A>C (p.His369Pro) c.1031A>C (p.His344Pro) c.974A>C (p.His325Pro) | dbSNP |
| 3 | g.30672262A>G | CA351808487 | TGFBR2 | c.1079A>G (p.His360Arg) n.2675A>G c.1154A>G (p.His385Arg) c.1106A>G (p.His369Arg) c.1031A>G (p.His344Arg) c.974A>G (p.His325Arg) | dbSNP |
| 3 | g.30672262A>T | CA351808488 | TGFBR2 | c.1079A>T (p.His360Leu) n.2675A>T c.1154A>T (p.His385Leu) c.1106A>T (p.His369Leu) c.1031A>T (p.His344Leu) c.974A>T (p.His325Leu) | dbSNP |
| 3 | g.30672262_30672265delinsACCT | CA1354873213 | TGFBR2 | c.1079_1082delinsACCT (p.His360=) n.2675_2678delinsACCT c.1154_1157delinsACCT (p.His385=) c.1106_1109delinsACCT (p.His369=) c.1031_1034delinsACCT (p.His344=) c.974_977delinsACCT (p.His325=) | |
| 3 | g.30672263C>A | CA351808490 | TGFBR2 | c.1080C>A (p.His360Gln) n.2676C>A c.1155C>A (p.His385Gln) c.1107C>A (p.His369Gln) c.1032C>A (p.His344Gln) c.975C>A (p.His325Gln) | dbSNP gnomAD v4 |
| 3 | g.30672263C>G | CA351808491 | TGFBR2 | c.1080C>G (p.His360Gln) n.2676C>G c.1155C>G (p.His385Gln) c.1107C>G (p.His369Gln) c.1032C>G (p.His344Gln) c.975C>G (p.His325Gln) | dbSNP |
| 3 | g.30672263C>T | CA432917569 | TGFBR2 | c.1080C>T (p.His360=) n.2676C>T c.1155C>T (p.His385=) c.1107C>T (p.His369=) c.1032C>T (p.His344=) c.975C>T (p.His325=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672265_30672267del | CA020601 | TGFBR2 | c.1082_1084del (p.Leu361del) n.2678_2680del c.1157_1159del (p.Leu386del) c.1109_1111del (p.Leu370del) c.1034_1036del (p.Leu345del) c.977_979del (p.Leu326del) | ClinVar dbSNP |
| 3 | g.30672264C>A | CA351808492 | TGFBR2 | c.1081C>A (p.Leu361Ile) n.2677C>A c.1156C>A (p.Leu386Ile) c.1108C>A (p.Leu370Ile) c.1033C>A (p.Leu345Ile) c.976C>A (p.Leu326Ile) | dbSNP |
| 3 | g.30672264C>G | CA351808493 | TGFBR2 | c.1081C>G (p.Leu361Val) n.2677C>G c.1156C>G (p.Leu386Val) c.1108C>G (p.Leu370Val) c.1033C>G (p.Leu345Val) c.976C>G (p.Leu326Val) | dbSNP |
| 3 | g.30672264C>T | CA351808494 | TGFBR2 | c.1081C>T (p.Leu361Phe) n.2677C>T c.1156C>T (p.Leu386Phe) c.1108C>T (p.Leu370Phe) c.1033C>T (p.Leu345Phe) c.976C>T (p.Leu326Phe) | dbSNP COSMIC COSMIC |
| 3 | g.30672265T>A | CA351808495 | TGFBR2 | c.1082T>A (p.Leu361His) n.2678T>A c.1157T>A (p.Leu386His) c.1109T>A (p.Leu370His) c.1034T>A (p.Leu345His) c.977T>A (p.Leu326His) | COSMIC COSMIC |
| 3 | g.30672265T>C | CA351808496 | TGFBR2 | c.1082T>C (p.Leu361Pro) n.2678T>C c.1157T>C (p.Leu386Pro) c.1109T>C (p.Leu370Pro) c.1034T>C (p.Leu345Pro) c.977T>C (p.Leu326Pro) | ClinVar |
| 3 | g.30672265T>G | CA351808497 | TGFBR2 | c.1082T>G (p.Leu361Arg) n.2678T>G c.1157T>G (p.Leu386Arg) c.1109T>G (p.Leu370Arg) c.1034T>G (p.Leu345Arg) c.977T>G (p.Leu326Arg) | COSMIC COSMIC |
| 3 | g.30672266C>A | CA432917572 | TGFBR2 | c.1083C>A (p.Leu361=) n.2679C>A c.1158C>A (p.Leu386=) c.1110C>A (p.Leu370=) c.1035C>A (p.Leu345=) c.978C>A (p.Leu326=) | dbSNP |
| 3 | g.30672266C>G | CA432917570 | TGFBR2 | c.1083C>G (p.Leu361=) n.2679C>G c.1158C>G (p.Leu386=) c.1110C>G (p.Leu370=) c.1035C>G (p.Leu345=) c.978C>G (p.Leu326=) | ClinVar dbSNP |
| 3 | g.30672266C>T | CA432917571 | TGFBR2 | c.1083C>T (p.Leu361=) n.2679C>T c.1158C>T (p.Leu386=) c.1110C>T (p.Leu370=) c.1035C>T (p.Leu345=) c.978C>T (p.Leu326=) | dbSNP gnomAD v4 |
| 3 | g.30672267C>A | CA351808500 | TGFBR2 | c.1084C>A (p.His362Asn) n.2680C>A c.1159C>A (p.His387Asn) c.1111C>A (p.His371Asn) c.1036C>A (p.His346Asn) c.979C>A (p.His327Asn) | dbSNP |
| 3 | g.30672267C>G | CA351808499 | TGFBR2 | c.1084C>G (p.His362Asp) n.2680C>G c.1159C>G (p.His387Asp) c.1111C>G (p.His371Asp) c.1036C>G (p.His346Asp) c.979C>G (p.His327Asp) | |
| 3 | g.30672267C>T | CA351808498 | TGFBR2 | c.1084C>T (p.His362Tyr) n.2680C>T c.1159C>T (p.His387Tyr) c.1111C>T (p.His371Tyr) c.1036C>T (p.His346Tyr) c.979C>T (p.His327Tyr) | dbSNP COSMIC COSMIC |
| 3 | g.30672268A= | CA1354873214 | TGFBR2 | c.1085A= (p.His362=) n.2681A= c.1160A= (p.His387=) c.1112A= (p.His371=) c.1037A= (p.His346=) c.980A= (p.His327=) | |
| 3 | g.30672268A>C | CA351808501 | TGFBR2 | c.1085A>C (p.His362Pro) n.2681A>C c.1160A>C (p.His387Pro) c.1112A>C (p.His371Pro) c.1037A>C (p.His346Pro) c.980A>C (p.His327Pro) | dbSNP |
| 3 | g.30672268A>G | CA324658 | TGFBR2 | c.1085A>G (p.His362Arg) n.2681A>G c.1160A>G (p.His387Arg) c.1112A>G (p.His371Arg) c.1037A>G (p.His346Arg) c.980A>G (p.His327Arg) | ClinVar dbSNP |
| 3 | g.30672268A>T | CA351808502 | TGFBR2 | c.1085A>T (p.His362Leu) n.2681A>T c.1160A>T (p.His387Leu) c.1112A>T (p.His371Leu) c.1037A>T (p.His346Leu) c.980A>T (p.His327Leu) | dbSNP |
| 3 | g.30672269C>A | CA351808503 | TGFBR2 | c.1086C>A (p.His362Gln) n.2682C>A c.1161C>A (p.His387Gln) c.1113C>A (p.His371Gln) c.1038C>A (p.His346Gln) c.981C>A (p.His327Gln) | dbSNP |
| 3 | g.30672269C>G | CA351808504 | TGFBR2 | c.1086C>G (p.His362Gln) n.2682C>G c.1161C>G (p.His387Gln) c.1113C>G (p.His371Gln) c.1038C>G (p.His346Gln) c.981C>G (p.His327Gln) | dbSNP |
| 3 | g.30672269C>T | CA432917573 | TGFBR2 | c.1086C>T (p.His362=) n.2682C>T c.1161C>T (p.His387=) c.1113C>T (p.His371=) c.1038C>T (p.His346=) c.981C>T (p.His327=) | dbSNP gnomAD v4 |
| 3 | g.30672270A>C | CA351808505 | TGFBR2 | c.1087A>C (p.Ser363Arg) n.2683A>C c.1162A>C (p.Ser388Arg) c.1114A>C (p.Ser372Arg) c.1039A>C (p.Ser347Arg) c.982A>C (p.Ser328Arg) | |
| 3 | g.30672270A>G | CA351808506 | TGFBR2 | c.1087A>G (p.Ser363Gly) n.2683A>G c.1162A>G (p.Ser388Gly) c.1114A>G (p.Ser372Gly) c.1039A>G (p.Ser347Gly) c.982A>G (p.Ser328Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672270A>T | CA351808507 | TGFBR2 | c.1087A>T (p.Ser363Cys) n.2683A>T c.1162A>T (p.Ser388Cys) c.1114A>T (p.Ser372Cys) c.1039A>T (p.Ser347Cys) c.982A>T (p.Ser328Cys) | dbSNP |
| 3 | g.30672271G>A | CA351808508 | TGFBR2 | c.1088G>A (p.Ser363Asn) n.2684G>A c.1163G>A (p.Ser388Asn) c.1115G>A (p.Ser372Asn) c.1040G>A (p.Ser347Asn) c.983G>A (p.Ser328Asn) | |
| 3 | g.30672271G>C | CA351808509 | TGFBR2 | c.1088G>C (p.Ser363Thr) n.2684G>C c.1163G>C (p.Ser388Thr) c.1115G>C (p.Ser372Thr) c.1040G>C (p.Ser347Thr) c.983G>C (p.Ser328Thr) | |
| 3 | g.30672271G>T | CA351808510 | TGFBR2 | c.1088G>T (p.Ser363Ile) n.2684G>T c.1163G>T (p.Ser388Ile) c.1115G>T (p.Ser372Ile) c.1040G>T (p.Ser347Ile) c.983G>T (p.Ser328Ile) | |
| 3 | g.30672272T>A | CA351808511 | TGFBR2 | c.1089T>A (p.Ser363Arg) n.2685T>A c.1164T>A (p.Ser388Arg) c.1116T>A (p.Ser372Arg) c.1041T>A (p.Ser347Arg) c.984T>A (p.Ser328Arg) | dbSNP |
| 3 | g.30672272T>C | CA432917574 | TGFBR2 | c.1089T>C (p.Ser363=) n.2685T>C c.1164T>C (p.Ser388=) c.1116T>C (p.Ser372=) c.1041T>C (p.Ser347=) c.984T>C (p.Ser328=) | dbSNP gnomAD v4 |
| 3 | g.30672272T>G | CA351808512 | TGFBR2 | c.1089T>G (p.Ser363Arg) n.2685T>G c.1164T>G (p.Ser388Arg) c.1116T>G (p.Ser372Arg) c.1041T>G (p.Ser347Arg) c.984T>G (p.Ser328Arg) | dbSNP |
| 3 | g.30672273G>A | CA351808514 | TGFBR2 | c.1090G>A (p.Asp364Asn) n.2686G>A c.1165G>A (p.Asp389Asn) c.1117G>A (p.Asp373Asn) c.1042G>A (p.Asp348Asn) c.985G>A (p.Asp329Asn) | dbSNP COSMIC COSMIC |
| 3 | g.30672273G>C | CA351808515 | TGFBR2 | c.1090G>C (p.Asp364His) n.2686G>C c.1165G>C (p.Asp389His) c.1117G>C (p.Asp373His) c.1042G>C (p.Asp348His) c.985G>C (p.Asp329His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672273G= | CA1354873215 | TGFBR2 | c.1090G= (p.Asp364=) n.2686G= c.1165G= (p.Asp389=) c.1117G= (p.Asp373=) c.1042G= (p.Asp348=) c.985G= (p.Asp329=) | |
| 3 | g.30672273G>T | CA351808513 | TGFBR2 | c.1090G>T (p.Asp364Tyr) n.2686G>T c.1165G>T (p.Asp389Tyr) c.1117G>T (p.Asp373Tyr) c.1042G>T (p.Asp348Tyr) c.985G>T (p.Asp329Tyr) | dbSNP |
| 3 | g.30672274A= | CA1354873216 | TGFBR2 | c.1091A= (p.Asp364=) n.2687A= c.1166A= (p.Asp389=) c.1118A= (p.Asp373=) c.1043A= (p.Asp348=) c.986A= (p.Asp329=) | |
| 3 | g.30672274A>C | CA351808516 | TGFBR2 | c.1091A>C (p.Asp364Ala) n.2687A>C c.1166A>C (p.Asp389Ala) c.1118A>C (p.Asp373Ala) c.1043A>C (p.Asp348Ala) c.986A>C (p.Asp329Ala) | dbSNP |
| 3 | g.30672274A>G | CA351808517 | TGFBR2 | c.1091A>G (p.Asp364Gly) n.2687A>G c.1166A>G (p.Asp389Gly) c.1118A>G (p.Asp373Gly) c.1043A>G (p.Asp348Gly) c.986A>G (p.Asp329Gly) | dbSNP |
| 3 | g.30672274A>T | CA351808518 | TGFBR2 | c.1091A>T (p.Asp364Val) n.2687A>T c.1166A>T (p.Asp389Val) c.1118A>T (p.Asp373Val) c.1043A>T (p.Asp348Val) c.986A>T (p.Asp329Val) | dbSNP |
| 3 | g.30672275T>A | CA351808519 | TGFBR2 | c.1092T>A (p.Asp364Glu) n.2688T>A c.1167T>A (p.Asp389Glu) c.1119T>A (p.Asp373Glu) c.1044T>A (p.Asp348Glu) c.987T>A (p.Asp329Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672275T>C | CA045631 | TGFBR2 | c.1092T>C (p.Asp364=) n.2688T>C c.1167T>C (p.Asp389=) c.1119T>C (p.Asp373=) c.1044T>C (p.Asp348=) c.987T>C (p.Asp329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672275T>G | CA351808520 | TGFBR2 | c.1092T>G (p.Asp364Glu) n.2688T>G c.1167T>G (p.Asp389Glu) c.1119T>G (p.Asp373Glu) c.1044T>G (p.Asp348Glu) c.987T>G (p.Asp329Glu) | dbSNP |
| 3 | g.30672275T= | CA1354873217 | TGFBR2 | c.1092T= (p.Asp364=) n.2688T= c.1167T= (p.Asp389=) c.1119T= (p.Asp373=) c.1044T= (p.Asp348=) c.987T= (p.Asp329=) | |
| 3 | g.30672276C>A | CA351808521 | TGFBR2 | c.1093C>A (p.His365Asn) n.2689C>A c.1168C>A (p.His390Asn) c.1120C>A (p.His374Asn) c.1045C>A (p.His349Asn) c.988C>A (p.His330Asn) | dbSNP |
| 3 | g.30672276C>G | CA351808522 | TGFBR2 | c.1093C>G (p.His365Asp) n.2689C>G c.1168C>G (p.His390Asp) c.1120C>G (p.His374Asp) c.1045C>G (p.His349Asp) c.988C>G (p.His330Asp) | dbSNP COSMIC COSMIC |
| 3 | g.30672276C>T | CA351808523 | TGFBR2 | c.1093C>T (p.His365Tyr) n.2689C>T c.1168C>T (p.His390Tyr) c.1120C>T (p.His374Tyr) c.1045C>T (p.His349Tyr) c.988C>T (p.His330Tyr) | dbSNP |
| 3 | g.30672277A>C | CA351808524 | TGFBR2 | c.1094A>C (p.His365Pro) n.2690A>C c.1169A>C (p.His390Pro) c.1121A>C (p.His374Pro) c.1046A>C (p.His349Pro) c.989A>C (p.His330Pro) | |
| 3 | g.30672277A>G | CA351808525 | TGFBR2 | c.1094A>G (p.His365Arg) n.2690A>G c.1169A>G (p.His390Arg) c.1121A>G (p.His374Arg) c.1046A>G (p.His349Arg) c.989A>G (p.His330Arg) | dbSNP |
| 3 | g.30672277A>T | CA351808526 | TGFBR2 | c.1094A>T (p.His365Leu) n.2690A>T c.1169A>T (p.His390Leu) c.1121A>T (p.His374Leu) c.1046A>T (p.His349Leu) c.989A>T (p.His330Leu) | dbSNP |
| 3 | g.30672278C>A | CA351808527 | TGFBR2 | c.1095C>A (p.His365Gln) n.2691C>A c.1170C>A (p.His390Gln) c.1122C>A (p.His374Gln) c.1047C>A (p.His349Gln) c.990C>A (p.His330Gln) | dbSNP |
| 3 | g.30672278C>G | CA351808528 | TGFBR2 | c.1095C>G (p.His365Gln) n.2691C>G c.1170C>G (p.His390Gln) c.1122C>G (p.His374Gln) c.1047C>G (p.His349Gln) c.990C>G (p.His330Gln) | dbSNP gnomAD v4 |
| 3 | g.30672278C>T | CA432917575 | TGFBR2 | c.1095C>T (p.His365=) n.2691C>T c.1170C>T (p.His390=) c.1122C>T (p.His374=) c.1047C>T (p.His349=) c.990C>T (p.His330=) | |
| 3 | g.30672279A= | CA1354873218 | TGFBR2 | c.1096A= (p.Thr366=) n.2692A= c.1171A= (p.Thr391=) c.1123A= (p.Thr375=) c.1048A= (p.Thr350=) c.991A= (p.Thr331=) | |
| 3 | g.30672279A>C | CA351808530 | TGFBR2 | c.1096A>C (p.Thr366Pro) n.2692A>C c.1171A>C (p.Thr391Pro) c.1123A>C (p.Thr375Pro) c.1048A>C (p.Thr350Pro) c.991A>C (p.Thr331Pro) | dbSNP |
| 3 | g.30672279A>G | CA045643 | TGFBR2 | c.1096A>G (p.Thr366Ala) n.2692A>G c.1171A>G (p.Thr391Ala) c.1123A>G (p.Thr375Ala) c.1048A>G (p.Thr350Ala) c.991A>G (p.Thr331Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672279A>T | CA351808529 | TGFBR2 | c.1096A>T (p.Thr366Ser) n.2692A>T c.1171A>T (p.Thr391Ser) c.1123A>T (p.Thr375Ser) c.1048A>T (p.Thr350Ser) c.991A>T (p.Thr331Ser) | dbSNP |
| 3 | g.30672280C>A | CA351808531 | TGFBR2 | c.1097C>A (p.Thr366Asn) n.2693C>A c.1172C>A (p.Thr391Asn) c.1124C>A (p.Thr375Asn) c.1049C>A (p.Thr350Asn) c.992C>A (p.Thr331Asn) | dbSNP gnomAD v4 |
| 3 | g.30672280C= | CA1354873219 | TGFBR2 | c.1097C= (p.Thr366=) n.2693C= c.1172C= (p.Thr391=) c.1124C= (p.Thr375=) c.1049C= (p.Thr350=) c.992C= (p.Thr331=) | |
| 3 | g.30672280C>G | CA351808532 | TGFBR2 | c.1097C>G (p.Thr366Ser) n.2693C>G c.1172C>G (p.Thr391Ser) c.1124C>G (p.Thr375Ser) c.1049C>G (p.Thr350Ser) c.992C>G (p.Thr331Ser) | dbSNP |
| 3 | g.30672280C>T | CA351808533 | TGFBR2 | c.1097C>T (p.Thr366Ile) n.2693C>T c.1172C>T (p.Thr391Ile) c.1124C>T (p.Thr375Ile) c.1049C>T (p.Thr350Ile) c.992C>T (p.Thr331Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672281T>A | CA432917578 | TGFBR2 | c.1098T>A (p.Thr366=) n.2694T>A c.1173T>A (p.Thr391=) c.1125T>A (p.Thr375=) c.1050T>A (p.Thr350=) c.993T>A (p.Thr331=) | COSMIC COSMIC |
| 3 | g.30672281T>C | CA432917576 | TGFBR2 | c.1098T>C (p.Thr366=) n.2694T>C c.1173T>C (p.Thr391=) c.1125T>C (p.Thr375=) c.1050T>C (p.Thr350=) c.993T>C (p.Thr331=) | |
| 3 | g.30672281T>G | CA432917577 | TGFBR2 | c.1098T>G (p.Thr366=) n.2694T>G c.1173T>G (p.Thr391=) c.1125T>G (p.Thr375=) c.1050T>G (p.Thr350=) c.993T>G (p.Thr331=) | |
| 3 | g.30672282C>A | CA351808534 | TGFBR2 | c.1099C>A (p.Pro367Thr) n.2695C>A c.1174C>A (p.Pro392Thr) c.1126C>A (p.Pro376Thr) c.1051C>A (p.Pro351Thr) c.994C>A (p.Pro332Thr) | dbSNP gnomAD v4 |
| 3 | g.30672282C>G | CA351808535 | TGFBR2 | c.1099C>G (p.Pro367Ala) n.2695C>G c.1174C>G (p.Pro392Ala) c.1126C>G (p.Pro376Ala) c.1051C>G (p.Pro351Ala) c.994C>G (p.Pro332Ala) | |
| 3 | g.30672282C>T | CA351808536 | TGFBR2 | c.1099C>T (p.Pro367Ser) n.2695C>T c.1174C>T (p.Pro392Ser) c.1126C>T (p.Pro376Ser) c.1051C>T (p.Pro351Ser) c.994C>T (p.Pro332Ser) | |
| 3 | g.30672283C>A | CA351808537 | TGFBR2 | c.1100C>A (p.Pro367Gln) n.2696C>A c.1175C>A (p.Pro392Gln) c.1127C>A (p.Pro376Gln) c.1052C>A (p.Pro351Gln) c.995C>A (p.Pro332Gln) | dbSNP |
| 3 | g.30672283C= | CA1354873220 | TGFBR2 | c.1100C= (p.Pro367=) n.2696C= c.1175C= (p.Pro392=) c.1127C= (p.Pro376=) c.1052C= (p.Pro351=) c.995C= (p.Pro332=) | |
| 3 | g.30672283C>G | CA351808538 | TGFBR2 | c.1100C>G (p.Pro367Arg) n.2696C>G c.1175C>G (p.Pro392Arg) c.1127C>G (p.Pro376Arg) c.1052C>G (p.Pro351Arg) c.995C>G (p.Pro332Arg) | dbSNP |
| 3 | g.30672283C>T | CA351808539 | TGFBR2 | c.1100C>T (p.Pro367Leu) n.2696C>T c.1175C>T (p.Pro392Leu) c.1127C>T (p.Pro376Leu) c.1052C>T (p.Pro351Leu) c.995C>T (p.Pro332Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.30672284A= | CA1354873221 | TGFBR2 | c.1101A= (p.Pro367=) n.2697A= c.1176A= (p.Pro392=) c.1128A= (p.Pro376=) c.1053A= (p.Pro351=) c.996A= (p.Pro332=) | |
| 3 | g.30672284A>C | CA432917579 | TGFBR2 | c.1101A>C (p.Pro367=) n.2697A>C c.1176A>C (p.Pro392=) c.1128A>C (p.Pro376=) c.1053A>C (p.Pro351=) c.996A>C (p.Pro332=) | dbSNP |
| 3 | g.30672284A>G | CA045668 | TGFBR2 | c.1101A>G (p.Pro367=) n.2697A>G c.1176A>G (p.Pro392=) c.1128A>G (p.Pro376=) c.1053A>G (p.Pro351=) c.996A>G (p.Pro332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672284A>T | CA432917580 | TGFBR2 | c.1101A>T (p.Pro367=) n.2697A>T c.1176A>T (p.Pro392=) c.1128A>T (p.Pro376=) c.1053A>T (p.Pro351=) c.996A>T (p.Pro332=) | dbSNP |
| 3 | g.30672285T>A | CA351808540 | TGFBR2 | c.1102T>A (p.Cys368Ser) n.2698T>A c.1177T>A (p.Cys393Ser) c.1129T>A (p.Cys377Ser) c.1054T>A (p.Cys352Ser) c.997T>A (p.Cys333Ser) | ClinVar dbSNP |
| 3 | g.30672285T>C | CA351808541 | TGFBR2 | c.1102T>C (p.Cys368Arg) n.2698T>C c.1177T>C (p.Cys393Arg) c.1129T>C (p.Cys377Arg) c.1054T>C (p.Cys352Arg) c.997T>C (p.Cys333Arg) | ClinVar dbSNP |
| 3 | g.30672285T>G | CA351808542 | TGFBR2 | c.1102T>G (p.Cys368Gly) n.2698T>G c.1177T>G (p.Cys393Gly) c.1129T>G (p.Cys377Gly) c.1054T>G (p.Cys352Gly) c.997T>G (p.Cys333Gly) | dbSNP |
| 3 | g.30672286G>A | CA351808543 | TGFBR2 | c.1103G>A (p.Cys368Tyr) n.2699G>A c.1178G>A (p.Cys393Tyr) c.1130G>A (p.Cys377Tyr) c.1055G>A (p.Cys352Tyr) c.998G>A (p.Cys333Tyr) | dbSNP gnomAD v4 |
| 3 | g.30672286G>C | CA351808545 | TGFBR2 | c.1103G>C (p.Cys368Ser) n.2699G>C c.1178G>C (p.Cys393Ser) c.1130G>C (p.Cys377Ser) c.1055G>C (p.Cys352Ser) c.998G>C (p.Cys333Ser) | dbSNP |
| 3 | g.30672286G>T | CA351808544 | TGFBR2 | c.1103G>T (p.Cys368Phe) n.2699G>T c.1178G>T (p.Cys393Phe) c.1130G>T (p.Cys377Phe) c.1055G>T (p.Cys352Phe) c.998G>T (p.Cys333Phe) | |
| 3 | g.30672287T>A | CA351808546 | TGFBR2 | c.1104T>A (p.Cys368Ter) n.2700T>A c.1179T>A (p.Cys393Ter) c.1131T>A (p.Cys377Ter) c.1056T>A (p.Cys352Ter) c.999T>A (p.Cys333Ter) | |
| 3 | g.30672287T>C | CA432917581 | TGFBR2 | c.1104T>C (p.Cys368=) n.2700T>C c.1179T>C (p.Cys393=) c.1131T>C (p.Cys377=) c.1056T>C (p.Cys352=) c.999T>C (p.Cys333=) | |
| 3 | g.30672287T>G | CA351808547 | TGFBR2 | c.1104T>G (p.Cys368Trp) n.2700T>G c.1179T>G (p.Cys393Trp) c.1131T>G (p.Cys377Trp) c.1056T>G (p.Cys352Trp) c.999T>G (p.Cys333Trp) | |
| 3 | g.30672288G>A | CA351808548 | TGFBR2 | c.1105G>A (p.Gly369Arg) n.2701G>A c.1180G>A (p.Gly394Arg) c.1132G>A (p.Gly378Arg) c.1057G>A (p.Gly353Arg) c.1000G>A (p.Gly334Arg) | dbSNP |
| 3 | g.30672288G>C | CA045693 | TGFBR2 | c.1105G>C (p.Gly369Arg) n.2701G>C c.1180G>C (p.Gly394Arg) c.1132G>C (p.Gly378Arg) c.1057G>C (p.Gly353Arg) c.1000G>C (p.Gly334Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672288G= | CA1354873222 | TGFBR2 | c.1105G= (p.Gly369=) n.2701G= c.1180G= (p.Gly394=) c.1132G= (p.Gly378=) c.1057G= (p.Gly353=) c.1000G= (p.Gly334=) | |
| 3 | g.30672288G>T | CA351808549 | TGFBR2 | c.1105G>T (p.Gly369Trp) n.2701G>T c.1180G>T (p.Gly394Trp) c.1132G>T (p.Gly378Trp) c.1057G>T (p.Gly353Trp) c.1000G>T (p.Gly334Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672290del | CA2702373804 | TGFBR2 | c.1107del (p.Arg370GlyfsTer18) n.2703del c.1182del (p.Arg395GlyfsTer18) c.1134del (p.Arg379GlyfsTer18) c.1059del (p.Arg354GlyfsTer18) c.1002del (p.Arg335GlyfsTer18) | dbSNP |
| 3 | g.30672289G>A | CA351808550 | TGFBR2 | c.1106G>A (p.Gly369Glu) n.2702G>A c.1181G>A (p.Gly394Glu) c.1133G>A (p.Gly378Glu) c.1058G>A (p.Gly353Glu) c.1001G>A (p.Gly334Glu) | dbSNP gnomAD v4 |
| 3 | g.30672289G>C | CA351808552 | TGFBR2 | c.1106G>C (p.Gly369Ala) n.2702G>C c.1181G>C (p.Gly394Ala) c.1133G>C (p.Gly378Ala) c.1058G>C (p.Gly353Ala) c.1001G>C (p.Gly334Ala) | dbSNP |
| 3 | g.30672289G>T | CA351808551 | TGFBR2 | c.1106G>T (p.Gly369Val) n.2702G>T c.1181G>T (p.Gly394Val) c.1133G>T (p.Gly378Val) c.1058G>T (p.Gly353Val) c.1001G>T (p.Gly334Val) | dbSNP |
| 3 | g.30672290G>A | CA71528749 | TGFBR2 | c.1107G>A (p.Gly369=) n.2703G>A c.1182G>A (p.Gly394=) c.1134G>A (p.Gly378=) c.1059G>A (p.Gly353=) c.1002G>A (p.Gly334=) | dbSNP gnomAD v4 |
| 3 | g.30672290G>C | CA432917583 | TGFBR2 | c.1107G>C (p.Gly369=) n.2703G>C c.1182G>C (p.Gly394=) c.1134G>C (p.Gly378=) c.1059G>C (p.Gly353=) c.1002G>C (p.Gly334=) | dbSNP |
| 3 | g.30672290G= | CA1354873223 | TGFBR2 | c.1107G= (p.Gly369=) n.2703G= c.1182G= (p.Gly394=) c.1134G= (p.Gly378=) c.1059G= (p.Gly353=) c.1002G= (p.Gly334=) | |
| 3 | g.30672290G>T | CA432917582 | TGFBR2 | c.1107G>T (p.Gly369=) n.2703G>T c.1182G>T (p.Gly394=) c.1134G>T (p.Gly378=) c.1059G>T (p.Gly353=) c.1002G>T (p.Gly334=) | |
| 3 | g.30672291A>C | CA432917584 | TGFBR2 | c.1108A>C (p.Arg370=) n.2704A>C c.1183A>C (p.Arg395=) c.1135A>C (p.Arg379=) c.1060A>C (p.Arg354=) c.1003A>C (p.Arg335=) | |
| 3 | g.30672291A>G | CA351808553 | TGFBR2 | c.1108A>G (p.Arg370Gly) n.2704A>G c.1183A>G (p.Arg395Gly) c.1135A>G (p.Arg379Gly) c.1060A>G (p.Arg354Gly) c.1003A>G (p.Arg335Gly) | dbSNP |
| 3 | g.30672291A>T | CA351808554 | TGFBR2 | c.1108A>T (p.Arg370Trp) n.2704A>T c.1183A>T (p.Arg395Trp) c.1135A>T (p.Arg379Trp) c.1060A>T (p.Arg354Trp) c.1003A>T (p.Arg335Trp) | dbSNP |
| 3 | g.30672292G>A | CA351808555 | TGFBR2 | c.1109G>A (p.Arg370Lys) n.2705G>A c.1184G>A (p.Arg395Lys) c.1136G>A (p.Arg379Lys) c.1061G>A (p.Arg354Lys) c.1004G>A (p.Arg335Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672292G>C | CA351808556 | TGFBR2 | c.1109G>C (p.Arg370Thr) n.2705G>C c.1184G>C (p.Arg395Thr) c.1136G>C (p.Arg379Thr) c.1061G>C (p.Arg354Thr) c.1004G>C (p.Arg335Thr) | ClinVar dbSNP |
| 3 | g.30672292G= | CA1354873224 | TGFBR2 | c.1109G= (p.Arg370=) n.2705G= c.1184G= (p.Arg395=) c.1136G= (p.Arg379=) c.1061G= (p.Arg354=) c.1004G= (p.Arg335=) | |
| 3 | g.30672292G>T | CA045705 | TGFBR2 | c.1109G>T (p.Arg370Met) n.2705G>T c.1184G>T (p.Arg395Met) c.1136G>T (p.Arg379Met) c.1061G>T (p.Arg354Met) c.1004G>T (p.Arg335Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672293G>A | CA432917585 | TGFBR2 | c.1110G>A (p.Arg370=) n.2706G>A c.1185G>A (p.Arg395=) c.1137G>A (p.Arg379=) c.1062G>A (p.Arg354=) c.1005G>A (p.Arg335=) | |
| 3 | g.30672293G>C | CA351808557 | TGFBR2 | c.1110G>C (p.Arg370Ser) n.2706G>C c.1185G>C (p.Arg395Ser) c.1137G>C (p.Arg379Ser) c.1062G>C (p.Arg354Ser) c.1005G>C (p.Arg335Ser) | ClinVar |
| 3 | g.30672293G>T | CA351808558 | TGFBR2 | c.1110G>T (p.Arg370Ser) n.2706G>T c.1185G>T (p.Arg395Ser) c.1137G>T (p.Arg379Ser) c.1062G>T (p.Arg354Ser) c.1005G>T (p.Arg335Ser) | |
| 3 | g.30672294C>A | CA351808559 | TGFBR2 | c.1111C>A (p.Pro371Thr) n.2707C>A c.1186C>A (p.Pro396Thr) c.1138C>A (p.Pro380Thr) c.1063C>A (p.Pro355Thr) c.1006C>A (p.Pro336Thr) | dbSNP gnomAD v4 |
| 3 | g.30672294C>G | CA351808560 | TGFBR2 | c.1111C>G (p.Pro371Ala) n.2707C>G c.1186C>G (p.Pro396Ala) c.1138C>G (p.Pro380Ala) c.1063C>G (p.Pro355Ala) c.1006C>G (p.Pro336Ala) | dbSNP |
| 3 | g.30672294C>T | CA351808561 | TGFBR2 | c.1111C>T (p.Pro371Ser) n.2707C>T c.1186C>T (p.Pro396Ser) c.1138C>T (p.Pro380Ser) c.1063C>T (p.Pro355Ser) c.1006C>T (p.Pro336Ser) | dbSNP |
| 3 | g.30672295C>A | CA351808562 | TGFBR2 | c.1112C>A (p.Pro371His) n.2708C>A c.1187C>A (p.Pro396His) c.1139C>A (p.Pro380His) c.1064C>A (p.Pro355His) c.1007C>A (p.Pro336His) | dbSNP |
| 3 | g.30672295C>G | CA351808563 | TGFBR2 | c.1112C>G (p.Pro371Arg) n.2708C>G c.1187C>G (p.Pro396Arg) c.1139C>G (p.Pro380Arg) c.1064C>G (p.Pro355Arg) c.1007C>G (p.Pro336Arg) | dbSNP |
| 3 | g.30672295C>T | CA351808564 | TGFBR2 | c.1112C>T (p.Pro371Leu) n.2708C>T c.1187C>T (p.Pro396Leu) c.1139C>T (p.Pro380Leu) c.1064C>T (p.Pro355Leu) c.1007C>T (p.Pro336Leu) | dbSNP |
| 3 | g.30672296C>A | CA432917586 | TGFBR2 | c.1113C>A (p.Pro371=) n.2709C>A c.1188C>A (p.Pro396=) c.1140C>A (p.Pro380=) c.1065C>A (p.Pro355=) c.1008C>A (p.Pro336=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672296C= | CA1354873225 | TGFBR2 | c.1113C= (p.Pro371=) n.2709C= c.1188C= (p.Pro396=) c.1140C= (p.Pro380=) c.1065C= (p.Pro355=) c.1008C= (p.Pro336=) | |
| 3 | g.30672296C>G | CA432917587 | TGFBR2 | c.1113C>G (p.Pro371=) n.2709C>G c.1188C>G (p.Pro396=) c.1140C>G (p.Pro380=) c.1065C>G (p.Pro355=) c.1008C>G (p.Pro336=) | ClinVar dbSNP |
| 3 | g.30672296C>T | CA432917588 | TGFBR2 | c.1113C>T (p.Pro371=) n.2709C>T c.1188C>T (p.Pro396=) c.1140C>T (p.Pro380=) c.1065C>T (p.Pro355=) c.1008C>T (p.Pro336=) | dbSNP |
| 3 | g.30672297A>C | CA351808565 | TGFBR2 | c.1114A>C (p.Lys372Gln) n.2710A>C c.1189A>C (p.Lys397Gln) c.1141A>C (p.Lys381Gln) c.1066A>C (p.Lys356Gln) c.1009A>C (p.Lys337Gln) | |
| 3 | g.30672297A>G | CA351808566 | TGFBR2 | c.1114A>G (p.Lys372Glu) n.2710A>G c.1189A>G (p.Lys397Glu) c.1141A>G (p.Lys381Glu) c.1066A>G (p.Lys356Glu) c.1009A>G (p.Lys337Glu) | ClinVar dbSNP |
| 3 | g.30672297A>T | CA351808567 | TGFBR2 | c.1114A>T (p.Lys372Ter) n.2710A>T c.1189A>T (p.Lys397Ter) c.1141A>T (p.Lys381Ter) c.1066A>T (p.Lys356Ter) c.1009A>T (p.Lys337Ter) | dbSNP |
| 3 | g.30672298A= | CA1354873226 | TGFBR2 | c.1115A= (p.Lys372=) n.2711A= c.1190A= (p.Lys397=) c.1142A= (p.Lys381=) c.1067A= (p.Lys356=) c.1010A= (p.Lys337=) | |
| 3 | g.30672298A>C | CA351808568 | TGFBR2 | c.1115A>C (p.Lys372Thr) n.2711A>C c.1190A>C (p.Lys397Thr) c.1142A>C (p.Lys381Thr) c.1067A>C (p.Lys356Thr) c.1010A>C (p.Lys337Thr) | |
| 3 | g.30672298A>G | CA351808569 | TGFBR2 | c.1115A>G (p.Lys372Arg) n.2711A>G c.1190A>G (p.Lys397Arg) c.1142A>G (p.Lys381Arg) c.1067A>G (p.Lys356Arg) c.1010A>G (p.Lys337Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672298A>T | CA351808570 | TGFBR2 | c.1115A>T (p.Lys372Met) n.2711A>T c.1190A>T (p.Lys397Met) c.1142A>T (p.Lys381Met) c.1067A>T (p.Lys356Met) c.1010A>T (p.Lys337Met) | dbSNP |
| 3 | g.30672298_30672299insAGTGCTG | CA2702373825 | TGFBR2 | c.1115_1116insAGTGCTG (p.Met373ValfsTer27) n.2711_2712insAGTGCTG c.1190_1191insAGTGCTG (p.Met398ValfsTer27) c.1142_1143insAGTGCTG (p.Met382ValfsTer27) c.1067_1068insAGTGCTG (p.Met357ValfsTer27) c.1010_1011insAGTGCTG (p.Met338ValfsTer27) | dbSNP |
| 3 | g.30672299G>A | CA045718 | TGFBR2 | c.1116G>A (p.Lys372=) n.2712G>A c.1191G>A (p.Lys397=) c.1143G>A (p.Lys381=) c.1068G>A (p.Lys356=) c.1011G>A (p.Lys337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672299G>C | CA351808571 | TGFBR2 | c.1116G>C (p.Lys372Asn) n.2712G>C c.1191G>C (p.Lys397Asn) c.1143G>C (p.Lys381Asn) c.1068G>C (p.Lys356Asn) c.1011G>C (p.Lys337Asn) | dbSNP |
| 3 | g.30672299G= | CA1354873227 | TGFBR2 | c.1116G= (p.Lys372=) n.2712G= c.1191G= (p.Lys397=) c.1143G= (p.Lys381=) c.1068G= (p.Lys356=) c.1011G= (p.Lys337=) | |
| 3 | g.30672299G>T | CA351808572 | TGFBR2 | c.1116G>T (p.Lys372Asn) n.2712G>T c.1191G>T (p.Lys397Asn) c.1143G>T (p.Lys381Asn) c.1068G>T (p.Lys356Asn) c.1011G>T (p.Lys337Asn) | dbSNP |
| 3 | g.30672300A>C | CA351808573 | TGFBR2 | c.1117A>C (p.Met373Leu) n.2713A>C c.1192A>C (p.Met398Leu) c.1144A>C (p.Met382Leu) c.1069A>C (p.Met357Leu) c.1012A>C (p.Met338Leu) | dbSNP |
| 3 | g.30672300A>G | CA351808574 | TGFBR2 | c.1117A>G (p.Met373Val) n.2713A>G c.1192A>G (p.Met398Val) c.1144A>G (p.Met382Val) c.1069A>G (p.Met357Val) c.1012A>G (p.Met338Val) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30672300A>T | CA351808575 | TGFBR2 | c.1117A>T (p.Met373Leu) n.2713A>T c.1192A>T (p.Met398Leu) c.1144A>T (p.Met382Leu) c.1069A>T (p.Met357Leu) c.1012A>T (p.Met338Leu) | dbSNP |
| 3 | g.30672301T>A | CA351808576 | TGFBR2 | c.1118T>A (p.Met373Lys) n.2714T>A c.1193T>A (p.Met398Lys) c.1145T>A (p.Met382Lys) c.1070T>A (p.Met357Lys) c.1013T>A (p.Met338Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672301T>C | CA351808577 | TGFBR2 | c.1118T>C (p.Met373Thr) n.2714T>C c.1193T>C (p.Met398Thr) c.1145T>C (p.Met382Thr) c.1070T>C (p.Met357Thr) c.1013T>C (p.Met338Thr) | |
| 3 | g.30672301T>G | CA351808578 | TGFBR2 | c.1118T>G (p.Met373Arg) n.2714T>G c.1193T>G (p.Met398Arg) c.1145T>G (p.Met382Arg) c.1070T>G (p.Met357Arg) c.1013T>G (p.Met338Arg) | dbSNP |
| 3 | g.30672301T= | CA1354873228 | TGFBR2 | c.1118T= (p.Met373=) n.2714T= c.1193T= (p.Met398=) c.1145T= (p.Met382=) c.1070T= (p.Met357=) c.1013T= (p.Met338=) | |
| 3 | g.30672302G>A | CA020605 | TGFBR2 | c.1119G>A (p.Met373Ile) n.2715G>A c.1194G>A (p.Met398Ile) c.1146G>A (p.Met382Ile) c.1071G>A (p.Met357Ile) c.1014G>A (p.Met338Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672302G>C | CA351808579 | TGFBR2 | c.1119G>C (p.Met373Ile) n.2715G>C c.1194G>C (p.Met398Ile) c.1146G>C (p.Met382Ile) c.1071G>C (p.Met357Ile) c.1014G>C (p.Met338Ile) | |
| 3 | g.30672302G= | CA1354873229 | TGFBR2 | c.1119G= (p.Met373=) n.2715G= c.1194G= (p.Met398=) c.1146G= (p.Met382=) c.1071G= (p.Met357=) c.1014G= (p.Met338=) | |
| 3 | g.30672302G>T | CA351808580 | TGFBR2 | c.1119G>T (p.Met373Ile) n.2715G>T c.1194G>T (p.Met398Ile) c.1146G>T (p.Met382Ile) c.1071G>T (p.Met357Ile) c.1014G>T (p.Met338Ile) | |
| 3 | g.30672303C>A | CA351808581 | TGFBR2 | c.1120C>A (p.Pro374Thr) n.2716C>A c.1195C>A (p.Pro399Thr) c.1147C>A (p.Pro383Thr) c.1072C>A (p.Pro358Thr) c.1015C>A (p.Pro339Thr) | dbSNP |
| 3 | g.30672303C= | CA1354873230 | TGFBR2 | c.1120C= (p.Pro374=) n.2716C= c.1195C= (p.Pro399=) c.1147C= (p.Pro383=) c.1072C= (p.Pro358=) c.1015C= (p.Pro339=) | |
| 3 | g.30672303C>G | CA351808582 | TGFBR2 | c.1120C>G (p.Pro374Ala) n.2716C>G c.1195C>G (p.Pro399Ala) c.1147C>G (p.Pro383Ala) c.1072C>G (p.Pro358Ala) c.1015C>G (p.Pro339Ala) | dbSNP gnomAD v4 |
| 3 | g.30672303C>T | CA320627 | TGFBR2 | c.1120C>T (p.Pro374Ser) n.2716C>T c.1195C>T (p.Pro399Ser) c.1147C>T (p.Pro383Ser) c.1072C>T (p.Pro358Ser) c.1015C>T (p.Pro339Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672304C>A | CA351808584 | TGFBR2 | c.1121C>A (p.Pro374His) n.2717C>A c.1196C>A (p.Pro399His) c.1148C>A (p.Pro383His) c.1073C>A (p.Pro358His) c.1016C>A (p.Pro339His) | dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30672304C= | CA1354873231 | TGFBR2 | c.1121C= (p.Pro374=) n.2717C= c.1196C= (p.Pro399=) c.1148C= (p.Pro383=) c.1073C= (p.Pro358=) c.1016C= (p.Pro339=) | |
| 3 | g.30672304C>G | CA351808583 | TGFBR2 | c.1121C>G (p.Pro374Arg) n.2717C>G c.1196C>G (p.Pro399Arg) c.1148C>G (p.Pro383Arg) c.1073C>G (p.Pro358Arg) c.1016C>G (p.Pro339Arg) | dbSNP |
| 3 | g.30672304C>T | CA16604508 | TGFBR2 | c.1121C>T (p.Pro374Leu) n.2717C>T c.1196C>T (p.Pro399Leu) c.1148C>T (p.Pro383Leu) c.1073C>T (p.Pro358Leu) c.1016C>T (p.Pro339Leu) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30672305C>A | CA432917589 | TGFBR2 | c.1122C>A (p.Pro374=) n.2718C>A c.1197C>A (p.Pro399=) c.1149C>A (p.Pro383=) c.1074C>A (p.Pro358=) c.1017C>A (p.Pro339=) | dbSNP |
| 3 | g.30672305C>G | CA432917590 | TGFBR2 | c.1122C>G (p.Pro374=) n.2718C>G c.1197C>G (p.Pro399=) c.1149C>G (p.Pro383=) c.1074C>G (p.Pro358=) c.1017C>G (p.Pro339=) | dbSNP |
| 3 | g.30672305C>T | CA432917591 | TGFBR2 | c.1122C>T (p.Pro374=) n.2718C>T c.1197C>T (p.Pro399=) c.1149C>T (p.Pro383=) c.1074C>T (p.Pro358=) c.1017C>T (p.Pro339=) | gnomAD v4 |
| 3 | g.30672306A= | CA1354873232 | TGFBR2 | c.1123A= (p.Ile375=) n.2719A= c.1198A= (p.Ile400=) c.1150A= (p.Ile384=) c.1075A= (p.Ile359=) c.1018A= (p.Ile340=) | |
| 3 | g.30672306A>C | CA351808586 | TGFBR2 | c.1123A>C (p.Ile375Leu) n.2719A>C c.1198A>C (p.Ile400Leu) c.1150A>C (p.Ile384Leu) c.1075A>C (p.Ile359Leu) c.1018A>C (p.Ile340Leu) | dbSNP |
| 3 | g.30672306A>G | CA71528768 | TGFBR2 | c.1123A>G (p.Ile375Val) n.2719A>G c.1198A>G (p.Ile400Val) c.1150A>G (p.Ile384Val) c.1075A>G (p.Ile359Val) c.1018A>G (p.Ile340Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672306A>T | CA351808585 | TGFBR2 | c.1123A>T (p.Ile375Phe) n.2719A>T c.1198A>T (p.Ile400Phe) c.1150A>T (p.Ile384Phe) c.1075A>T (p.Ile359Phe) c.1018A>T (p.Ile340Phe) | dbSNP |
| 3 | g.30672307T>A | CA351808587 | TGFBR2 | c.1124T>A (p.Ile375Asn) n.2720T>A c.1199T>A (p.Ile400Asn) c.1151T>A (p.Ile384Asn) c.1076T>A (p.Ile359Asn) c.1019T>A (p.Ile340Asn) | dbSNP |
| 3 | g.30672307T>C | CA351808588 | TGFBR2 | c.1124T>C (p.Ile375Thr) n.2720T>C c.1199T>C (p.Ile400Thr) c.1151T>C (p.Ile384Thr) c.1076T>C (p.Ile359Thr) c.1019T>C (p.Ile340Thr) | |
| 3 | g.30672307T>G | CA351808589 | TGFBR2 | c.1124T>G (p.Ile375Ser) n.2720T>G c.1199T>G (p.Ile400Ser) c.1151T>G (p.Ile384Ser) c.1076T>G (p.Ile359Ser) c.1019T>G (p.Ile340Ser) | dbSNP |
| 3 | g.30672308C>A | CA432917592 | TGFBR2 | c.1125C>A (p.Ile375=) n.2721C>A c.1200C>A (p.Ile400=) c.1152C>A (p.Ile384=) c.1077C>A (p.Ile359=) c.1020C>A (p.Ile340=) | dbSNP COSMIC COSMIC |
| 3 | g.30672308C= | CA1354873233 | TGFBR2 | c.1125C= (p.Ile375=) n.2721C= c.1200C= (p.Ile400=) c.1152C= (p.Ile384=) c.1077C= (p.Ile359=) c.1020C= (p.Ile340=) | |
| 3 | g.30672308C>G | CA351808590 | TGFBR2 | c.1125C>G (p.Ile375Met) n.2721C>G c.1200C>G (p.Ile400Met) c.1152C>G (p.Ile384Met) c.1077C>G (p.Ile359Met) c.1020C>G (p.Ile340Met) | dbSNP gnomAD v4 |
| 3 | g.30672308C>T | CA045745 | TGFBR2 | c.1125C>T (p.Ile375=) n.2721C>T c.1200C>T (p.Ile400=) c.1152C>T (p.Ile384=) c.1077C>T (p.Ile359=) c.1020C>T (p.Ile340=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672309G>A | CA045758 | TGFBR2 | c.1126G>A (p.Val376Met) n.2722G>A c.1201G>A (p.Val401Met) c.1153G>A (p.Val385Met) c.1078G>A (p.Val360Met) c.1021G>A (p.Val341Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672309G>C | CA351808591 | TGFBR2 | c.1126G>C (p.Val376Leu) n.2722G>C c.1201G>C (p.Val401Leu) c.1153G>C (p.Val385Leu) c.1078G>C (p.Val360Leu) c.1021G>C (p.Val341Leu) | ClinVar dbSNP |
| 3 | g.30672309G= | CA1354873234 | TGFBR2 | c.1126G= (p.Val376=) n.2722G= c.1201G= (p.Val401=) c.1153G= (p.Val385=) c.1078G= (p.Val360=) c.1021G= (p.Val341=) | |
| 3 | g.30672309G>T | CA351808592 | TGFBR2 | c.1126G>T (p.Val376Leu) n.2722G>T c.1201G>T (p.Val401Leu) c.1153G>T (p.Val385Leu) c.1078G>T (p.Val360Leu) c.1021G>T (p.Val341Leu) | ClinVar |
| 3 | g.30672310T>A | CA351808593 | TGFBR2 | c.1127T>A (p.Val376Glu) n.2723T>A c.1202T>A (p.Val401Glu) c.1154T>A (p.Val385Glu) c.1079T>A (p.Val360Glu) c.1022T>A (p.Val341Glu) | dbSNP |
| 3 | g.30672310T>C | CA351808594 | TGFBR2 | c.1127T>C (p.Val376Ala) n.2723T>C c.1202T>C (p.Val401Ala) c.1154T>C (p.Val385Ala) c.1079T>C (p.Val360Ala) c.1022T>C (p.Val341Ala) | dbSNP |
| 3 | g.30672310T>G | CA351808595 | TGFBR2 | c.1127T>G (p.Val376Gly) n.2723T>G c.1202T>G (p.Val401Gly) c.1154T>G (p.Val385Gly) c.1079T>G (p.Val360Gly) c.1022T>G (p.Val341Gly) | dbSNP |
| 3 | g.30672311G>A | CA16604405 | TGFBR2 | c.1128G>A (p.Val376=) n.2724G>A c.1203G>A (p.Val401=) c.1155G>A (p.Val385=) c.1080G>A (p.Val360=) c.1023G>A (p.Val341=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672311G>C | CA432917593 | TGFBR2 | c.1128G>C (p.Val376=) n.2724G>C c.1203G>C (p.Val401=) c.1155G>C (p.Val385=) c.1080G>C (p.Val360=) c.1023G>C (p.Val341=) | dbSNP |
| 3 | g.30672311G= | CA1354873235 | TGFBR2 | c.1128G= (p.Val376=) n.2724G= c.1203G= (p.Val401=) c.1155G= (p.Val385=) c.1080G= (p.Val360=) c.1023G= (p.Val341=) | |
| 3 | g.30672311G>T | CA432917594 | TGFBR2 | c.1128G>T (p.Val376=) n.2724G>T c.1203G>T (p.Val401=) c.1155G>T (p.Val385=) c.1080G>T (p.Val360=) c.1023G>T (p.Val341=) | |
| 3 | g.30672312del | CA2580069247 | TGFBR2 | c.1129del (p.His377ThrfsTer11) n.2725del c.1204del (p.His402ThrfsTer11) c.1156del (p.His386ThrfsTer11) c.1081del (p.His361ThrfsTer11) c.1024del (p.His342ThrfsTer11) | ClinVar gnomAD v4 |
| 3 | g.30672312C>A | CA351808598 | TGFBR2 | c.1129C>A (p.His377Asn) n.2725C>A c.1204C>A (p.His402Asn) c.1156C>A (p.His386Asn) c.1081C>A (p.His361Asn) c.1024C>A (p.His342Asn) | dbSNP |
| 3 | g.30672312C>G | CA351808596 | TGFBR2 | c.1129C>G (p.His377Asp) n.2725C>G c.1204C>G (p.His402Asp) c.1156C>G (p.His386Asp) c.1081C>G (p.His361Asp) c.1024C>G (p.His342Asp) | ClinVar dbSNP |
| 3 | g.30672312C>T | CA351808597 | TGFBR2 | c.1129C>T (p.His377Tyr) n.2725C>T c.1204C>T (p.His402Tyr) c.1156C>T (p.His386Tyr) c.1081C>T (p.His361Tyr) c.1024C>T (p.His342Tyr) | dbSNP |
| 3 | g.30672313A= | CA1354873236 | TGFBR2 | c.1130A= (p.His377=) n.2726A= c.1205A= (p.His402=) c.1157A= (p.His386=) c.1082A= (p.His361=) c.1025A= (p.His342=) | |
| 3 | g.30672313A>C | CA351808599 | TGFBR2 | c.1130A>C (p.His377Pro) n.2726A>C c.1205A>C (p.His402Pro) c.1157A>C (p.His386Pro) c.1082A>C (p.His361Pro) c.1025A>C (p.His342Pro) | ClinVar dbSNP |
| 3 | g.30672313A>G | CA351808600 | TGFBR2 | c.1130A>G (p.His377Arg) n.2726A>G c.1205A>G (p.His402Arg) c.1157A>G (p.His386Arg) c.1082A>G (p.His361Arg) c.1025A>G (p.His342Arg) | ClinVar dbSNP |
| 3 | g.30672313A>T | CA351808601 | TGFBR2 | c.1130A>T (p.His377Leu) n.2726A>T c.1205A>T (p.His402Leu) c.1157A>T (p.His386Leu) c.1082A>T (p.His361Leu) c.1025A>T (p.His342Leu) | dbSNP |
| 3 | g.30672314C>A | CA351808602 | TGFBR2 | c.1131C>A (p.His377Gln) n.2727C>A c.1206C>A (p.His402Gln) c.1158C>A (p.His386Gln) c.1083C>A (p.His361Gln) c.1026C>A (p.His342Gln) | dbSNP |
| 3 | g.30672314C>G | CA351808603 | TGFBR2 | c.1131C>G (p.His377Gln) n.2727C>G c.1206C>G (p.His402Gln) c.1158C>G (p.His386Gln) c.1083C>G (p.His361Gln) c.1026C>G (p.His342Gln) | dbSNP |
| 3 | g.30672314C>T | CA432917595 | TGFBR2 | c.1131C>T (p.His377=) n.2727C>T c.1206C>T (p.His402=) c.1158C>T (p.His386=) c.1083C>T (p.His361=) c.1026C>T (p.His342=) | dbSNP COSMIC COSMIC |
| 3 | g.30672315A>C | CA432917596 | TGFBR2 | c.1132A>C (p.Arg378=) n.2728A>C c.1207A>C (p.Arg403=) c.1159A>C (p.Arg387=) c.1084A>C (p.Arg362=) c.1027A>C (p.Arg343=) | gnomAD v4 |
| 3 | g.30672315A>G | CA351808604 | TGFBR2 | c.1132A>G (p.Arg378Gly) n.2728A>G c.1207A>G (p.Arg403Gly) c.1159A>G (p.Arg387Gly) c.1084A>G (p.Arg362Gly) c.1027A>G (p.Arg343Gly) | COSMIC COSMIC |
| 3 | g.30672315A>T | CA351808605 | TGFBR2 | c.1132A>T (p.Arg378Trp) n.2728A>T c.1207A>T (p.Arg403Trp) c.1159A>T (p.Arg387Trp) c.1084A>T (p.Arg362Trp) c.1027A>T (p.Arg343Trp) | |
| 3 | g.30672316G>A | CA351808606 | TGFBR2 | c.1133G>A (p.Arg378Lys) n.2729G>A c.1208G>A (p.Arg403Lys) c.1160G>A (p.Arg387Lys) c.1085G>A (p.Arg362Lys) c.1028G>A (p.Arg343Lys) | ClinVar dbSNP |
| 3 | g.30672316G>C | CA351808607 | TGFBR2 | c.1133G>C (p.Arg378Thr) n.2729G>C c.1208G>C (p.Arg403Thr) c.1160G>C (p.Arg387Thr) c.1085G>C (p.Arg362Thr) c.1028G>C (p.Arg343Thr) | dbSNP |
| 3 | g.30672316G>T | CA351808608 | TGFBR2 | c.1133G>T (p.Arg378Met) n.2729G>T c.1208G>T (p.Arg403Met) c.1160G>T (p.Arg387Met) c.1085G>T (p.Arg362Met) c.1028G>T (p.Arg343Met) | dbSNP COSMIC |
| 3 | g.30672317G>A | CA432917597 | TGFBR2 | c.1134G>A (p.Arg378=) n.2730G>A c.1209G>A (p.Arg403=) c.1161G>A (p.Arg387=) c.1086G>A (p.Arg362=) c.1029G>A (p.Arg343=) | ClinVar dbSNP |
| 3 | g.30672317G>C | CA351808609 | TGFBR2 | c.1134G>C (p.Arg378Ser) n.2730G>C c.1209G>C (p.Arg403Ser) c.1161G>C (p.Arg387Ser) c.1086G>C (p.Arg362Ser) c.1029G>C (p.Arg343Ser) | ClinVar dbSNP |
| 3 | g.30672317G= | CA1354873238 | TGFBR2 | c.1134G= (p.Arg378=) n.2730G= c.1209G= (p.Arg403=) c.1161G= (p.Arg387=) c.1086G= (p.Arg362=) c.1029G= (p.Arg343=) | |
| 3 | g.30672317G>T | CA351808610 | TGFBR2 | c.1134G>T (p.Arg378Ser) n.2730G>T c.1209G>T (p.Arg403Ser) c.1161G>T (p.Arg387Ser) c.1086G>T (p.Arg362Ser) c.1029G>T (p.Arg343Ser) | ClinVar dbSNP |
| 3 | g.30672317_30672323delinsGGACCTC | CA1354873237 | TGFBR2 | c.1134_1140delinsGGACCTC (p.Arg378=) n.2730_2736delinsGGACCTC c.1209_1215delinsGGACCTC (p.Arg403=) c.1161_1167delinsGGACCTC (p.Arg387=) c.1086_1092delinsGGACCTC (p.Arg362=) c.1029_1035delinsGGACCTC (p.Arg343=) | |
| 3 | g.30672318G>A | CA351808612 | TGFBR2 | c.1135G>A (p.Asp379Asn) n.2731G>A c.1210G>A (p.Asp404Asn) c.1162G>A (p.Asp388Asn) c.1087G>A (p.Asp363Asn) c.1030G>A (p.Asp344Asn) | dbSNP |
| 3 | g.30672318G>C | CA351808613 | TGFBR2 | c.1135G>C (p.Asp379His) n.2731G>C c.1210G>C (p.Asp404His) c.1162G>C (p.Asp388His) c.1087G>C (p.Asp363His) c.1030G>C (p.Asp344His) | dbSNP |
| 3 | g.30672318G>T | CA351808611 | TGFBR2 | c.1135G>T (p.Asp379Tyr) n.2731G>T c.1210G>T (p.Asp404Tyr) c.1162G>T (p.Asp388Tyr) c.1087G>T (p.Asp363Tyr) c.1030G>T (p.Asp344Tyr) | COSMIC COSMIC |
| 3 | g.30672318_30672323del | CA658657280 | TGFBR2 | c.1135_1140del (p.Asp379_Leu380del) n.2731_2736del c.1210_1215del (p.Asp404_Leu405del) c.1162_1167del (p.Asp388_Leu389del) c.1087_1092del (p.Asp363_Leu364del) c.1030_1035del (p.Asp344_Leu345del) | ClinVar dbSNP |
| 3 | g.30672319A= | CA1354873239 | TGFBR2 | c.1136A= (p.Asp379=) n.2732A= c.1211A= (p.Asp404=) c.1163A= (p.Asp388=) c.1088A= (p.Asp363=) c.1031A= (p.Asp344=) | |
| 3 | g.30672319A>C | CA351808614 | TGFBR2 | c.1136A>C (p.Asp379Ala) n.2732A>C c.1211A>C (p.Asp404Ala) c.1163A>C (p.Asp388Ala) c.1088A>C (p.Asp363Ala) c.1031A>C (p.Asp344Ala) | dbSNP |
| 3 | g.30672319A>G | CA351808615 | TGFBR2 | c.1136A>G (p.Asp379Gly) n.2732A>G c.1211A>G (p.Asp404Gly) c.1163A>G (p.Asp388Gly) c.1088A>G (p.Asp363Gly) c.1031A>G (p.Asp344Gly) | dbSNP |
| 3 | g.30672319A>T | CA10587568 | TGFBR2 | c.1136A>T (p.Asp379Val) n.2732A>T c.1211A>T (p.Asp404Val) c.1163A>T (p.Asp388Val) c.1088A>T (p.Asp363Val) c.1031A>T (p.Asp344Val) | ClinVar dbSNP |
| 3 | g.30672320C>A | CA351808616 | TGFBR2 | c.1137C>A (p.Asp379Glu) n.2733C>A c.1212C>A (p.Asp404Glu) c.1164C>A (p.Asp388Glu) c.1089C>A (p.Asp363Glu) c.1032C>A (p.Asp344Glu) | |
| 3 | g.30672320C= | CA1354873240 | TGFBR2 | c.1137C= (p.Asp379=) n.2733C= c.1212C= (p.Asp404=) c.1164C= (p.Asp388=) c.1089C= (p.Asp363=) c.1032C= (p.Asp344=) | |
| 3 | g.30672320C>G | CA351808617 | TGFBR2 | c.1137C>G (p.Asp379Glu) n.2733C>G c.1212C>G (p.Asp404Glu) c.1164C>G (p.Asp388Glu) c.1089C>G (p.Asp363Glu) c.1032C>G (p.Asp344Glu) | |
| 3 | g.30672320C>T | CA432917598 | TGFBR2 | c.1137C>T (p.Asp379=) n.2733C>T c.1212C>T (p.Asp404=) c.1164C>T (p.Asp388=) c.1089C>T (p.Asp363=) c.1032C>T (p.Asp344=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672321C>A | CA351808618 | TGFBR2 | c.1138C>A (p.Leu380Ile) n.2734C>A c.1213C>A (p.Leu405Ile) c.1165C>A (p.Leu389Ile) c.1090C>A (p.Leu364Ile) c.1033C>A (p.Leu345Ile) | dbSNP |
| 3 | g.30672321C>G | CA351808619 | TGFBR2 | c.1138C>G (p.Leu380Val) n.2734C>G c.1213C>G (p.Leu405Val) c.1165C>G (p.Leu389Val) c.1090C>G (p.Leu364Val) c.1033C>G (p.Leu345Val) | dbSNP |
| 3 | g.30672321C>T | CA351808620 | TGFBR2 | c.1138C>T (p.Leu380Phe) n.2734C>T c.1213C>T (p.Leu405Phe) c.1165C>T (p.Leu389Phe) c.1090C>T (p.Leu364Phe) c.1033C>T (p.Leu345Phe) | dbSNP |
| 3 | g.30672322T>A | CA351808621 | TGFBR2 | c.1139T>A (p.Leu380His) n.2735T>A c.1214T>A (p.Leu405His) c.1166T>A (p.Leu389His) c.1091T>A (p.Leu364His) c.1034T>A (p.Leu345His) | dbSNP |
| 3 | g.30672322T>C | CA351808622 | TGFBR2 | c.1139T>C (p.Leu380Pro) n.2735T>C c.1214T>C (p.Leu405Pro) c.1166T>C (p.Leu389Pro) c.1091T>C (p.Leu364Pro) c.1034T>C (p.Leu345Pro) | dbSNP |
| 3 | g.30672322T>G | CA351808623 | TGFBR2 | c.1139T>G (p.Leu380Arg) n.2735T>G c.1214T>G (p.Leu405Arg) c.1166T>G (p.Leu389Arg) c.1091T>G (p.Leu364Arg) c.1034T>G (p.Leu345Arg) | |
| 3 | g.30672323C>A | CA432917599 | TGFBR2 | c.1140C>A (p.Leu380=) n.2736C>A c.1215C>A (p.Leu405=) c.1167C>A (p.Leu389=) c.1092C>A (p.Leu364=) c.1035C>A (p.Leu345=) | dbSNP |
| 3 | g.30672323C= | CA1354873241 | TGFBR2 | c.1140C= (p.Leu380=) n.2736C= c.1215C= (p.Leu405=) c.1167C= (p.Leu389=) c.1092C= (p.Leu364=) c.1035C= (p.Leu345=) | |
| 3 | g.30672323C>G | CA432917600 | TGFBR2 | c.1140C>G (p.Leu380=) n.2736C>G c.1215C>G (p.Leu405=) c.1167C>G (p.Leu389=) c.1092C>G (p.Leu364=) c.1035C>G (p.Leu345=) | dbSNP |
| 3 | g.30672323C>T | CA045767 | TGFBR2 | c.1140C>T (p.Leu380=) n.2736C>T c.1215C>T (p.Leu405=) c.1167C>T (p.Leu389=) c.1092C>T (p.Leu364=) c.1035C>T (p.Leu345=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672324A>C | CA351808624 | TGFBR2 | c.1141A>C (p.Lys381Gln) n.2737A>C c.1216A>C (p.Lys406Gln) c.1168A>C (p.Lys390Gln) c.1093A>C (p.Lys365Gln) c.1036A>C (p.Lys346Gln) | |
| 3 | g.30672324A>G | CA351808625 | TGFBR2 | c.1141A>G (p.Lys381Glu) n.2737A>G c.1216A>G (p.Lys406Glu) c.1168A>G (p.Lys390Glu) c.1093A>G (p.Lys365Glu) c.1036A>G (p.Lys346Glu) | |
| 3 | g.30672324A>T | CA351808626 | TGFBR2 | c.1141A>T (p.Lys381Ter) n.2737A>T c.1216A>T (p.Lys406Ter) c.1168A>T (p.Lys390Ter) c.1093A>T (p.Lys365Ter) c.1036A>T (p.Lys346Ter) | dbSNP |
| 3 | g.30672325A= | CA1354873242 | TGFBR2 | c.1142A= (p.Lys381=) n.2738A= c.1217A= (p.Lys406=) c.1169A= (p.Lys390=) c.1094A= (p.Lys365=) c.1037A= (p.Lys346=) | |
| 3 | g.30672325A>C | CA351808629 | TGFBR2 | c.1142A>C (p.Lys381Thr) n.2738A>C c.1217A>C (p.Lys406Thr) c.1169A>C (p.Lys390Thr) c.1094A>C (p.Lys365Thr) c.1037A>C (p.Lys346Thr) | |
| 3 | g.30672325A>G | CA351808627 | TGFBR2 | c.1142A>G (p.Lys381Arg) n.2738A>G c.1217A>G (p.Lys406Arg) c.1169A>G (p.Lys390Arg) c.1094A>G (p.Lys365Arg) c.1037A>G (p.Lys346Arg) | ClinVar dbSNP |
| 3 | g.30672325A>T | CA351808628 | TGFBR2 | c.1142A>T (p.Lys381Met) n.2738A>T c.1217A>T (p.Lys406Met) c.1169A>T (p.Lys390Met) c.1094A>T (p.Lys365Met) c.1037A>T (p.Lys346Met) | dbSNP |
| 3 | g.30672326G>A | CA432917601 | TGFBR2 | c.1143G>A (p.Lys381=) n.2739G>A c.1218G>A (p.Lys406=) c.1170G>A (p.Lys390=) c.1095G>A (p.Lys365=) c.1038G>A (p.Lys346=) | dbSNP |
| 3 | g.30672326G>C | CA351808630 | TGFBR2 | c.1143G>C (p.Lys381Asn) n.2739G>C c.1218G>C (p.Lys406Asn) c.1170G>C (p.Lys390Asn) c.1095G>C (p.Lys365Asn) c.1038G>C (p.Lys346Asn) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30672326G>T | CA351808631 | TGFBR2 | c.1143G>T (p.Lys381Asn) n.2739G>T c.1218G>T (p.Lys406Asn) c.1170G>T (p.Lys390Asn) c.1095G>T (p.Lys365Asn) c.1038G>T (p.Lys346Asn) | |
| 3 | g.30672327A>C | CA351808632 | TGFBR2 | c.1144A>C (p.Ser382Arg) n.2740A>C c.1219A>C (p.Ser407Arg) c.1171A>C (p.Ser391Arg) c.1096A>C (p.Ser366Arg) c.1039A>C (p.Ser347Arg) | |
| 3 | g.30672327A>G | CA351808633 | TGFBR2 | c.1144A>G (p.Ser382Gly) n.2740A>G c.1219A>G (p.Ser407Gly) c.1171A>G (p.Ser391Gly) c.1096A>G (p.Ser366Gly) c.1039A>G (p.Ser347Gly) | |
| 3 | g.30672327A>T | CA351808634 | TGFBR2 | c.1144A>T (p.Ser382Cys) n.2740A>T c.1219A>T (p.Ser407Cys) c.1171A>T (p.Ser391Cys) c.1096A>T (p.Ser366Cys) c.1039A>T (p.Ser347Cys) | dbSNP |
| 3 | g.30672328G>A | CA322910 | TGFBR2 | c.1145G>A (p.Ser382Asn) n.2741G>A c.1220G>A (p.Ser407Asn) c.1172G>A (p.Ser391Asn) c.1097G>A (p.Ser366Asn) c.1040G>A (p.Ser347Asn) | ClinVar dbSNP |
| 3 | g.30672328G>C | CA351808635 | TGFBR2 | c.1145G>C (p.Ser382Thr) n.2741G>C c.1220G>C (p.Ser407Thr) c.1172G>C (p.Ser391Thr) c.1097G>C (p.Ser366Thr) c.1040G>C (p.Ser347Thr) | dbSNP |
| 3 | g.30672328G= | CA1354873243 | TGFBR2 | c.1145G= (p.Ser382=) n.2741G= c.1220G= (p.Ser407=) c.1172G= (p.Ser391=) c.1097G= (p.Ser366=) c.1040G= (p.Ser347=) | |
| 3 | g.30672328G>T | CA351808636 | TGFBR2 | c.1145G>T (p.Ser382Ile) n.2741G>T c.1220G>T (p.Ser407Ile) c.1172G>T (p.Ser391Ile) c.1097G>T (p.Ser366Ile) c.1040G>T (p.Ser347Ile) | dbSNP |
| 3 | g.30672329C>A | CA351808637 | TGFBR2 | c.1146C>A (p.Ser382Arg) n.2742C>A c.1221C>A (p.Ser407Arg) c.1173C>A (p.Ser391Arg) c.1098C>A (p.Ser366Arg) c.1041C>A (p.Ser347Arg) | dbSNP COSMIC COSMIC |
| 3 | g.30672329C>G | CA351808638 | TGFBR2 | c.1146C>G (p.Ser382Arg) n.2742C>G c.1221C>G (p.Ser407Arg) c.1173C>G (p.Ser391Arg) c.1098C>G (p.Ser366Arg) c.1041C>G (p.Ser347Arg) | dbSNP |
| 3 | g.30672329C>T | CA432917602 | TGFBR2 | c.1146C>T (p.Ser382=) n.2742C>T c.1221C>T (p.Ser407=) c.1173C>T (p.Ser391=) c.1098C>T (p.Ser366=) c.1041C>T (p.Ser347=) | dbSNP |
| 3 | g.30672330T>A | CA351808641 | TGFBR2 | c.1147T>A (p.Ser383Thr) n.2743T>A c.1222T>A (p.Ser408Thr) c.1174T>A (p.Ser392Thr) c.1099T>A (p.Ser367Thr) c.1042T>A (p.Ser348Thr) | ClinVar gnomAD v4 |
| 3 | g.30672330T>C | CA351808640 | TGFBR2 | c.1147T>C (p.Ser383Pro) n.2743T>C c.1222T>C (p.Ser408Pro) c.1174T>C (p.Ser392Pro) c.1099T>C (p.Ser367Pro) c.1042T>C (p.Ser348Pro) | dbSNP |
| 3 | g.30672330T>G | CA351808639 | TGFBR2 | c.1147T>G (p.Ser383Ala) n.2743T>G c.1222T>G (p.Ser408Ala) c.1174T>G (p.Ser392Ala) c.1099T>G (p.Ser367Ala) c.1042T>G (p.Ser348Ala) | dbSNP |
| 3 | g.30672330T= | CA1354873244 | TGFBR2 | c.1147T= (p.Ser383=) n.2743T= c.1222T= (p.Ser408=) c.1174T= (p.Ser392=) c.1099T= (p.Ser367=) c.1042T= (p.Ser348=) | |
| 3 | g.30672330_30672331insGATG | CA2564244016 | TGFBR2 | c.1147_1148insGATG (p.Ser383Ter) n.2743_2744insGATG c.1222_1223insGATG (p.Ser408Ter) c.1174_1175insGATG (p.Ser392Ter) c.1099_1100insGATG (p.Ser367Ter) c.1042_1043insGATG (p.Ser348Ter) | |
| 3 | g.30672331C>A | CA351808642 | TGFBR2 | c.1148C>A (p.Ser383Tyr) n.2744C>A c.1223C>A (p.Ser408Tyr) c.1175C>A (p.Ser392Tyr) c.1100C>A (p.Ser367Tyr) c.1043C>A (p.Ser348Tyr) | ClinVar |
| 3 | g.30672331C>G | CA351808643 | TGFBR2 | c.1148C>G (p.Ser383Cys) n.2744C>G c.1223C>G (p.Ser408Cys) c.1175C>G (p.Ser392Cys) c.1100C>G (p.Ser367Cys) c.1043C>G (p.Ser348Cys) | |
| 3 | g.30672331C>T | CA351808644 | TGFBR2 | c.1148C>T (p.Ser383Phe) n.2744C>T c.1223C>T (p.Ser408Phe) c.1175C>T (p.Ser392Phe) c.1100C>T (p.Ser367Phe) c.1043C>T (p.Ser348Phe) | |
| 3 | g.30672332C>A | CA432917603 | TGFBR2 | c.1149C>A (p.Ser383=) n.2745C>A c.1224C>A (p.Ser408=) c.1176C>A (p.Ser392=) c.1101C>A (p.Ser367=) c.1044C>A (p.Ser348=) | dbSNP |
| 3 | g.30672332C>G | CA432917604 | TGFBR2 | c.1149C>G (p.Ser383=) n.2745C>G c.1224C>G (p.Ser408=) c.1176C>G (p.Ser392=) c.1101C>G (p.Ser367=) c.1044C>G (p.Ser348=) | dbSNP |
| 3 | g.30672332C>T | CA432917605 | TGFBR2 | c.1149C>T (p.Ser383=) n.2745C>T c.1224C>T (p.Ser408=) c.1176C>T (p.Ser392=) c.1101C>T (p.Ser367=) c.1044C>T (p.Ser348=) | dbSNP |
| 3 | g.30672333A>C | CA351808645 | TGFBR2 | c.1150A>C (p.Asn384His) n.2746A>C c.1225A>C (p.Asn409His) c.1177A>C (p.Asn393His) c.1102A>C (p.Asn368His) c.1045A>C (p.Asn349His) | |
| 3 | g.30672333A>G | CA351808646 | TGFBR2 | c.1150A>G (p.Asn384Asp) n.2746A>G c.1225A>G (p.Asn409Asp) c.1177A>G (p.Asn393Asp) c.1102A>G (p.Asn368Asp) c.1045A>G (p.Asn349Asp) | |
| 3 | g.30672333A>T | CA351808647 | TGFBR2 | c.1150A>T (p.Asn384Tyr) n.2746A>T c.1225A>T (p.Asn409Tyr) c.1177A>T (p.Asn393Tyr) c.1102A>T (p.Asn368Tyr) c.1045A>T (p.Asn349Tyr) | |
| 3 | g.30672334A= | CA1354873245 | TGFBR2 | c.1151A= (p.Asn384=) n.2747A= c.1226A= (p.Asn409=) c.1178A= (p.Asn393=) c.1103A= (p.Asn368=) c.1046A= (p.Asn349=) | |
| 3 | g.30672334A>C | CA351808649 | TGFBR2 | c.1151A>C (p.Asn384Thr) n.2747A>C c.1226A>C (p.Asn409Thr) c.1178A>C (p.Asn393Thr) c.1103A>C (p.Asn368Thr) c.1046A>C (p.Asn349Thr) | dbSNP |
| 3 | g.30672334A>G | CA020609 | TGFBR2 | c.1151A>G (p.Asn384Ser) n.2747A>G c.1226A>G (p.Asn409Ser) c.1178A>G (p.Asn393Ser) c.1103A>G (p.Asn368Ser) c.1046A>G (p.Asn349Ser) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30672334A>T | CA351808648 | TGFBR2 | c.1151A>T (p.Asn384Ile) n.2747A>T c.1226A>T (p.Asn409Ile) c.1178A>T (p.Asn393Ile) c.1103A>T (p.Asn368Ile) c.1046A>T (p.Asn349Ile) | dbSNP |
| 3 | g.30672335T>A | CA020613 | TGFBR2 | c.1152T>A (p.Asn384Lys) n.2748T>A c.1227T>A (p.Asn409Lys) c.1179T>A (p.Asn393Lys) c.1104T>A (p.Asn368Lys) c.1047T>A (p.Asn349Lys) | ClinVar dbSNP |
| 3 | g.[30672335T>A;30672346A>G] | CA2580573339 | TGFBR2 | c.[1152T>A;1163A>G] (p.[Asn384Lys;Lys388Arg]) n.[2748T>A;2759A>G] c.[1227T>A;1238A>G] (p.[Asn409Lys;Lys413Arg]) c.[1179T>A;1190A>G] (p.[Asn393Lys;Lys397Arg]) c.[1104T>A;1115A>G] (p.[Asn368Lys;Lys372Arg]) c.[1047T>A;1058A>G] (p.[Asn349Lys;Lys353Arg]) | |
| 3 | g.30672335T>C | CA432917606 | TGFBR2 | c.1152T>C (p.Asn384=) n.2748T>C c.1227T>C (p.Asn409=) c.1179T>C (p.Asn393=) c.1104T>C (p.Asn368=) c.1047T>C (p.Asn349=) | ClinVar dbSNP |
| 3 | g.30672335T>G | CA351808650 | TGFBR2 | c.1152T>G (p.Asn384Lys) n.2748T>G c.1227T>G (p.Asn409Lys) c.1179T>G (p.Asn393Lys) c.1104T>G (p.Asn368Lys) c.1047T>G (p.Asn349Lys) | ClinVar dbSNP |
| 3 | g.30672335T= | CA1354873246 | TGFBR2 | c.1152T= (p.Asn384=) n.2748T= c.1227T= (p.Asn409=) c.1179T= (p.Asn393=) c.1104T= (p.Asn368=) c.1047T= (p.Asn349=) | |
| 3 | g.30672336A= | CA1354873247 | TGFBR2 | c.1153A= (p.Ile385=) n.2749A= c.1228A= (p.Ile410=) c.1180A= (p.Ile394=) c.1105A= (p.Ile369=) c.1048A= (p.Ile350=) | |
| 3 | g.30672336A>C | CA351808651 | TGFBR2 | c.1153A>C (p.Ile385Leu) n.2749A>C c.1228A>C (p.Ile410Leu) c.1180A>C (p.Ile394Leu) c.1105A>C (p.Ile369Leu) c.1048A>C (p.Ile350Leu) | dbSNP |
| 3 | g.30672336A>G | CA045783 | TGFBR2 | c.1153A>G (p.Ile385Val) n.2749A>G c.1228A>G (p.Ile410Val) c.1180A>G (p.Ile394Val) c.1105A>G (p.Ile369Val) c.1048A>G (p.Ile350Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672336A>T | CA351808652 | TGFBR2 | c.1153A>T (p.Ile385Phe) n.2749A>T c.1228A>T (p.Ile410Phe) c.1180A>T (p.Ile394Phe) c.1105A>T (p.Ile369Phe) c.1048A>T (p.Ile350Phe) | dbSNP |
| 3 | g.30672337T>A | CA351808653 | TGFBR2 | c.1154T>A (p.Ile385Asn) n.2750T>A c.1229T>A (p.Ile410Asn) c.1181T>A (p.Ile394Asn) c.1106T>A (p.Ile369Asn) c.1049T>A (p.Ile350Asn) | dbSNP |
| 3 | g.30672337T>C | CA351808654 | TGFBR2 | c.1154T>C (p.Ile385Thr) n.2750T>C c.1229T>C (p.Ile410Thr) c.1181T>C (p.Ile394Thr) c.1106T>C (p.Ile369Thr) c.1049T>C (p.Ile350Thr) | dbSNP gnomAD v4 |
| 3 | g.30672337T>G | CA71528774 | TGFBR2 | c.1154T>G (p.Ile385Ser) n.2750T>G c.1229T>G (p.Ile410Ser) c.1181T>G (p.Ile394Ser) c.1106T>G (p.Ile369Ser) c.1049T>G (p.Ile350Ser) | dbSNP |
| 3 | g.30672337T= | CA1354873248 | TGFBR2 | c.1154T= (p.Ile385=) n.2750T= c.1229T= (p.Ile410=) c.1181T= (p.Ile394=) c.1106T= (p.Ile369=) c.1049T= (p.Ile350=) | |
| 3 | g.30672338C>A | CA432917607 | TGFBR2 | c.1155C>A (p.Ile385=) n.2751C>A c.1230C>A (p.Ile410=) c.1182C>A (p.Ile394=) c.1107C>A (p.Ile369=) c.1050C>A (p.Ile350=) | dbSNP |
| 3 | g.30672338C= | CA1354873249 | TGFBR2 | c.1155C= (p.Ile385=) n.2751C= c.1230C= (p.Ile410=) c.1182C= (p.Ile394=) c.1107C= (p.Ile369=) c.1050C= (p.Ile350=) | |
| 3 | g.30672338C>G | CA351808655 | TGFBR2 | c.1155C>G (p.Ile385Met) n.2751C>G c.1230C>G (p.Ile410Met) c.1182C>G (p.Ile394Met) c.1107C>G (p.Ile369Met) c.1050C>G (p.Ile350Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672338C>T | CA432917608 | TGFBR2 | c.1155C>T (p.Ile385=) n.2751C>T c.1230C>T (p.Ile410=) c.1182C>T (p.Ile394=) c.1107C>T (p.Ile369=) c.1050C>T (p.Ile350=) | ClinVar dbSNP |
| 3 | g.30672339C>A | CA351808656 | TGFBR2 | c.1156C>A (p.Leu386Ile) n.2752C>A c.1231C>A (p.Leu411Ile) c.1183C>A (p.Leu395Ile) c.1108C>A (p.Leu370Ile) c.1051C>A (p.Leu351Ile) | dbSNP |
| 3 | g.30672339C= | CA1354873250 | TGFBR2 | c.1156C= (p.Leu386=) n.2752C= c.1231C= (p.Leu411=) c.1183C= (p.Leu395=) c.1108C= (p.Leu370=) c.1051C= (p.Leu351=) | |
| 3 | g.30672339C>G | CA351808657 | TGFBR2 | c.1156C>G (p.Leu386Val) n.2752C>G c.1231C>G (p.Leu411Val) c.1183C>G (p.Leu395Val) c.1108C>G (p.Leu370Val) c.1051C>G (p.Leu351Val) | dbSNP |
| 3 | g.30672339C>T | CA351808658 | TGFBR2 | c.1156C>T (p.Leu386Phe) n.2752C>T c.1231C>T (p.Leu411Phe) c.1183C>T (p.Leu395Phe) c.1108C>T (p.Leu370Phe) c.1051C>T (p.Leu351Phe) | ClinVar dbSNP |
| 3 | g.30672340T>A | CA351808659 | TGFBR2 | c.1157T>A (p.Leu386His) n.2753T>A c.1232T>A (p.Leu411His) c.1184T>A (p.Leu395His) c.1109T>A (p.Leu370His) c.1052T>A (p.Leu351His) | dbSNP |
| 3 | g.30672340T>C | CA351808660 | TGFBR2 | c.1157T>C (p.Leu386Pro) n.2753T>C c.1232T>C (p.Leu411Pro) c.1184T>C (p.Leu395Pro) c.1109T>C (p.Leu370Pro) c.1052T>C (p.Leu351Pro) | dbSNP |
| 3 | g.30672340T>G | CA351808661 | TGFBR2 | c.1157T>G (p.Leu386Arg) n.2753T>G c.1232T>G (p.Leu411Arg) c.1184T>G (p.Leu395Arg) c.1109T>G (p.Leu370Arg) c.1052T>G (p.Leu351Arg) | |
| 3 | g.30672341C>A | CA432917609 | TGFBR2 | c.1158C>A (p.Leu386=) n.2754C>A c.1233C>A (p.Leu411=) c.1185C>A (p.Leu395=) c.1110C>A (p.Leu370=) c.1053C>A (p.Leu351=) | COSMIC COSMIC |
| 3 | g.30672341C= | CA1354873251 | TGFBR2 | c.1158C= (p.Leu386=) n.2754C= c.1233C= (p.Leu411=) c.1185C= (p.Leu395=) c.1110C= (p.Leu370=) c.1053C= (p.Leu351=) | |
| 3 | g.30672341C>G | CA432917610 | TGFBR2 | c.1158C>G (p.Leu386=) n.2754C>G c.1233C>G (p.Leu411=) c.1185C>G (p.Leu395=) c.1110C>G (p.Leu370=) c.1053C>G (p.Leu351=) | dbSNP |
| 3 | g.30672341C>T | CA045798 | TGFBR2 | c.1158C>T (p.Leu386=) n.2754C>T c.1233C>T (p.Leu411=) c.1185C>T (p.Leu395=) c.1110C>T (p.Leu370=) c.1053C>T (p.Leu351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.30672342G>A | CA020617 | TGFBR2 | c.1159G>A (p.Val387Met) n.2755G>A c.1234G>A (p.Val412Met) c.1186G>A (p.Val396Met) c.1111G>A (p.Val371Met) c.1054G>A (p.Val352Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672342G>C | CA351808662 | TGFBR2 | c.1159G>C (p.Val387Leu) n.2755G>C c.1234G>C (p.Val412Leu) c.1186G>C (p.Val396Leu) c.1111G>C (p.Val371Leu) c.1054G>C (p.Val352Leu) | dbSNP gnomAD v4 |
| 3 | g.30672342G= | CA1354873252 | TGFBR2 | c.1159G= (p.Val387=) n.2755G= c.1234G= (p.Val412=) c.1186G= (p.Val396=) c.1111G= (p.Val371=) c.1054G= (p.Val352=) | |
| 3 | g.30672342G>T | CA020619 | TGFBR2 | c.1159G>T (p.Val387Leu) n.2755G>T c.1234G>T (p.Val412Leu) c.1186G>T (p.Val396Leu) c.1111G>T (p.Val371Leu) c.1054G>T (p.Val352Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672343T>A | CA351808665 | TGFBR2 | c.1160T>A (p.Val387Glu) n.2756T>A c.1235T>A (p.Val412Glu) c.1187T>A (p.Val396Glu) c.1112T>A (p.Val371Glu) c.1055T>A (p.Val352Glu) | dbSNP |
| 3 | g.30672343T>C | CA351808664 | TGFBR2 | c.1160T>C (p.Val387Ala) n.2756T>C c.1235T>C (p.Val412Ala) c.1187T>C (p.Val396Ala) c.1112T>C (p.Val371Ala) c.1055T>C (p.Val352Ala) | COSMIC COSMIC |
| 3 | g.30672343T>G | CA351808663 | TGFBR2 | c.1160T>G (p.Val387Gly) n.2756T>G c.1235T>G (p.Val412Gly) c.1187T>G (p.Val396Gly) c.1112T>G (p.Val371Gly) c.1055T>G (p.Val352Gly) | dbSNP |
| 3 | g.30672344G>A | CA432917611 | TGFBR2 | c.1161G>A (p.Val387=) n.2757G>A c.1236G>A (p.Val412=) c.1188G>A (p.Val396=) c.1113G>A (p.Val371=) c.1056G>A (p.Val352=) | dbSNP COSMIC COSMIC |
| 3 | g.30672344G>C | CA432917613 | TGFBR2 | c.1161G>C (p.Val387=) n.2757G>C c.1236G>C (p.Val412=) c.1188G>C (p.Val396=) c.1113G>C (p.Val371=) c.1056G>C (p.Val352=) | dbSNP |
| 3 | g.30672344G>T | CA432917612 | TGFBR2 | c.1161G>T (p.Val387=) n.2757G>T c.1236G>T (p.Val412=) c.1188G>T (p.Val396=) c.1113G>T (p.Val371=) c.1056G>T (p.Val352=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30672345A>C | CA351808667 | TGFBR2 | c.1162A>C (p.Lys388Gln) n.2758A>C c.1237A>C (p.Lys413Gln) c.1189A>C (p.Lys397Gln) c.1114A>C (p.Lys372Gln) c.1057A>C (p.Lys353Gln) | |
| 3 | g.30672345A>G | CA351808666 | TGFBR2 | c.1162A>G (p.Lys388Glu) n.2758A>G c.1237A>G (p.Lys413Glu) c.1189A>G (p.Lys397Glu) c.1114A>G (p.Lys372Glu) c.1057A>G (p.Lys353Glu) | dbSNP |
| 3 | g.30672345A>T | CA351808668 | TGFBR2 | c.1162A>T (p.Lys388Ter) n.2758A>T c.1237A>T (p.Lys413Ter) c.1189A>T (p.Lys397Ter) c.1114A>T (p.Lys372Ter) c.1057A>T (p.Lys353Ter) | dbSNP |
| 3 | g.30672346A= | CA1354873253 | TGFBR2 | c.1163A= (p.Lys388=) n.2759A= c.1238A= (p.Lys413=) c.1190A= (p.Lys397=) c.1115A= (p.Lys372=) c.1058A= (p.Lys353=) | |
| 3 | g.30672346A>C | CA351808669 | TGFBR2 | c.1163A>C (p.Lys388Thr) n.2759A>C c.1238A>C (p.Lys413Thr) c.1190A>C (p.Lys397Thr) c.1115A>C (p.Lys372Thr) c.1058A>C (p.Lys353Thr) | |
| 3 | g.30672346A>G | CA020623 | TGFBR2 | c.1163A>G (p.Lys388Arg) n.2759A>G c.1238A>G (p.Lys413Arg) c.1190A>G (p.Lys397Arg) c.1115A>G (p.Lys372Arg) c.1058A>G (p.Lys353Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672346A>T | CA351808670 | TGFBR2 | c.1163A>T (p.Lys388Met) n.2759A>T c.1238A>T (p.Lys413Met) c.1190A>T (p.Lys397Met) c.1115A>T (p.Lys372Met) c.1058A>T (p.Lys353Met) | dbSNP |
| 3 | g.30672347_30672348del | CA2566206933 | TGFBR2 | c.1164_1165del (p.Asn389ArgfsTer8) n.2760_2761del c.1239_1240del (p.Asn414ArgfsTer8) c.1191_1192del (p.Asn398ArgfsTer8) c.1116_1117del (p.Asn373ArgfsTer8) c.1059_1060del (p.Asn354ArgfsTer8) | |
| 3 | g.30672347G>A | CA432917614 | TGFBR2 | c.1164G>A (p.Lys388=) n.2760G>A c.1239G>A (p.Lys413=) c.1191G>A (p.Lys397=) c.1116G>A (p.Lys372=) c.1059G>A (p.Lys353=) | |
| 3 | g.30672347G>C | CA351808671 | TGFBR2 | c.1164G>C (p.Lys388Asn) n.2760G>C c.1239G>C (p.Lys413Asn) c.1191G>C (p.Lys397Asn) c.1116G>C (p.Lys372Asn) c.1059G>C (p.Lys353Asn) | |
| 3 | g.30672347G>T | CA351808672 | TGFBR2 | c.1164G>T (p.Lys388Asn) n.2760G>T c.1239G>T (p.Lys413Asn) c.1191G>T (p.Lys397Asn) c.1116G>T (p.Lys372Asn) c.1059G>T (p.Lys353Asn) | |
| 3 | g.30672348A>C | CA351808673 | TGFBR2 | c.1165A>C (p.Asn389His) n.2761A>C c.1240A>C (p.Asn414His) c.1192A>C (p.Asn398His) c.1117A>C (p.Asn373His) c.1060A>C (p.Asn354His) | dbSNP |
| 3 | g.30672348A>G | CA351808674 | TGFBR2 | c.1165A>G (p.Asn389Asp) n.2761A>G c.1240A>G (p.Asn414Asp) c.1192A>G (p.Asn398Asp) c.1117A>G (p.Asn373Asp) c.1060A>G (p.Asn354Asp) | dbSNP |
| 3 | g.30672348A>T | CA351808675 | TGFBR2 | c.1165A>T (p.Asn389Tyr) n.2761A>T c.1240A>T (p.Asn414Tyr) c.1192A>T (p.Asn398Tyr) c.1117A>T (p.Asn373Tyr) c.1060A>T (p.Asn354Tyr) | dbSNP |
| 3 | g.30672349dup | CA2702373899 | TGFBR2 | c.1166dup (p.Asn389LysfsTer9) n.2762dup c.1241dup (p.Asn414LysfsTer9) c.1193dup (p.Asn398LysfsTer9) c.1118dup (p.Asn373LysfsTer9) c.1061dup (p.Asn354LysfsTer9) | dbSNP |
| 3 | g.30672349A= | CA1354873254 | TGFBR2 | c.1166A= (p.Asn389=) n.2762A= c.1241A= (p.Asn414=) c.1193A= (p.Asn398=) c.1118A= (p.Asn373=) c.1061A= (p.Asn354=) | |
| 3 | g.30672349A>C | CA351808676 | TGFBR2 | c.1166A>C (p.Asn389Thr) n.2762A>C c.1241A>C (p.Asn414Thr) c.1193A>C (p.Asn398Thr) c.1118A>C (p.Asn373Thr) c.1061A>C (p.Asn354Thr) | dbSNP |
| 3 | g.30672349A>G | CA71528854 | TGFBR2 | c.1166A>G (p.Asn389Ser) n.2762A>G c.1241A>G (p.Asn414Ser) c.1193A>G (p.Asn398Ser) c.1118A>G (p.Asn373Ser) c.1061A>G (p.Asn354Ser) | ClinVar dbSNP |
| 3 | g.30672349A>T | CA351808677 | TGFBR2 | c.1166A>T (p.Asn389Ile) n.2762A>T c.1241A>T (p.Asn414Ile) c.1193A>T (p.Asn398Ile) c.1118A>T (p.Asn373Ile) c.1061A>T (p.Asn354Ile) | dbSNP |
| 3 | g.30672349_30672350insGG | CA2557110462 | TGFBR2 | c.1166_1167insGG (p.Asn389LysfsTer4) n.2762_2763insGG c.1241_1242insGG (p.Asn414LysfsTer4) c.1193_1194insGG (p.Asn398LysfsTer4) c.1118_1119insGG (p.Asn373LysfsTer4) c.1061_1062insGG (p.Asn354LysfsTer4) | |
| 3 | g.30672350C>A | CA351808678 | TGFBR2 | c.1167C>A (p.Asn389Lys) n.2763C>A c.1242C>A (p.Asn414Lys) c.1194C>A (p.Asn398Lys) c.1119C>A (p.Asn373Lys) c.1062C>A (p.Asn354Lys) | |
| 3 | g.30672350C= | CA1354873255 | TGFBR2 | c.1167C= (p.Asn389=) n.2763C= c.1242C= (p.Asn414=) c.1194C= (p.Asn398=) c.1119C= (p.Asn373=) c.1062C= (p.Asn354=) | |
| 3 | g.30672350C>G | CA351808679 | TGFBR2 | c.1167C>G (p.Asn389Lys) n.2763C>G c.1242C>G (p.Asn414Lys) c.1194C>G (p.Asn398Lys) c.1119C>G (p.Asn373Lys) c.1062C>G (p.Asn354Lys) | ClinVar |
| 3 | g.30672350C>T | CA020628 | TGFBR2 | c.1167C>T (p.Asn389=) n.2763C>T c.1242C>T (p.Asn414=) c.1194C>T (p.Asn398=) c.1119C>T (p.Asn373=) c.1062C>T (p.Asn354=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672351G>A | CA351808682 | TGFBR2 | c.1168G>A (p.Asp390Asn) n.2764G>A c.1243G>A (p.Asp415Asn) c.1195G>A (p.Asp399Asn) c.1120G>A (p.Asp374Asn) c.1063G>A (p.Asp355Asn) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30672351G>C | CA351808680 | TGFBR2 | c.1168G>C (p.Asp390His) n.2764G>C c.1243G>C (p.Asp415His) c.1195G>C (p.Asp399His) c.1120G>C (p.Asp374His) c.1063G>C (p.Asp355His) | dbSNP |
| 3 | g.30672351G>T | CA351808681 | TGFBR2 | c.1168G>T (p.Asp390Tyr) n.2764G>T c.1243G>T (p.Asp415Tyr) c.1195G>T (p.Asp399Tyr) c.1120G>T (p.Asp374Tyr) c.1063G>T (p.Asp355Tyr) | ClinVar |
| 3 | g.30672352A>C | CA351808683 | TGFBR2 | c.1169A>C (p.Asp390Ala) n.2765A>C c.1244A>C (p.Asp415Ala) c.1196A>C (p.Asp399Ala) c.1121A>C (p.Asp374Ala) c.1064A>C (p.Asp355Ala) | dbSNP |
| 3 | g.30672352A>G | CA351808684 | TGFBR2 | c.1169A>G (p.Asp390Gly) n.2765A>G c.1244A>G (p.Asp415Gly) c.1196A>G (p.Asp399Gly) c.1121A>G (p.Asp374Gly) c.1064A>G (p.Asp355Gly) | dbSNP |
| 3 | g.30672352A>T | CA351808685 | TGFBR2 | c.1169A>T (p.Asp390Val) n.2765A>T c.1244A>T (p.Asp415Val) c.1196A>T (p.Asp399Val) c.1121A>T (p.Asp374Val) c.1064A>T (p.Asp355Val) | dbSNP |
| 3 | g.30672353C>A | CA351808686 | TGFBR2 | c.1170C>A (p.Asp390Glu) n.2766C>A c.1245C>A (p.Asp415Glu) c.1197C>A (p.Asp399Glu) c.1122C>A (p.Asp374Glu) c.1065C>A (p.Asp355Glu) | |
| 3 | g.30672353C= | CA1354873256 | TGFBR2 | c.1170C= (p.Asp390=) n.2766C= c.1245C= (p.Asp415=) c.1197C= (p.Asp399=) c.1122C= (p.Asp374=) c.1065C= (p.Asp355=) | |
| 3 | g.30672353C>G | CA351808687 | TGFBR2 | c.1170C>G (p.Asp390Glu) n.2766C>G c.1245C>G (p.Asp415Glu) c.1197C>G (p.Asp399Glu) c.1122C>G (p.Asp374Glu) c.1065C>G (p.Asp355Glu) | |
| 3 | g.30672353C>T | CA432917615 | TGFBR2 | c.1170C>T (p.Asp390=) n.2766C>T c.1245C>T (p.Asp415=) c.1197C>T (p.Asp399=) c.1122C>T (p.Asp374=) c.1065C>T (p.Asp355=) | ClinVar dbSNP |
| 3 | g.30672354C>A | CA351808688 | TGFBR2 | c.1171C>A (p.Leu391Ile) n.2767C>A c.1246C>A (p.Leu416Ile) c.1198C>A (p.Leu400Ile) c.1123C>A (p.Leu375Ile) c.1066C>A (p.Leu356Ile) | |
| 3 | g.30672354C= | CA1354873257 | TGFBR2 | c.1171C= (p.Leu391=) n.2767C= c.1246C= (p.Leu416=) c.1198C= (p.Leu400=) c.1123C= (p.Leu375=) c.1066C= (p.Leu356=) | |
| 3 | g.30672354C>G | CA045877 | TGFBR2 | c.1171C>G (p.Leu391Val) n.2767C>G c.1246C>G (p.Leu416Val) c.1198C>G (p.Leu400Val) c.1123C>G (p.Leu375Val) c.1066C>G (p.Leu356Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672354C>T | CA10582146 | TGFBR2 | c.1171C>T (p.Leu391=) n.2767C>T c.1246C>T (p.Leu416=) c.1198C>T (p.Leu400=) c.1123C>T (p.Leu375=) c.1066C>T (p.Leu356=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30672355T>A | CA351808689 | TGFBR2 | c.1172T>A (p.Leu391Gln) n.2768T>A c.1247T>A (p.Leu416Gln) c.1199T>A (p.Leu400Gln) c.1124T>A (p.Leu375Gln) c.1067T>A (p.Leu356Gln) | |
| 3 | g.30672355T>C | CA351808690 | TGFBR2 | c.1172T>C (p.Leu391Pro) n.2768T>C c.1247T>C (p.Leu416Pro) c.1199T>C (p.Leu400Pro) c.1124T>C (p.Leu375Pro) c.1067T>C (p.Leu356Pro) | ClinVar |
| 3 | g.30672355T>G | CA351808691 | TGFBR2 | c.1172T>G (p.Leu391Arg) n.2768T>G c.1247T>G (p.Leu416Arg) c.1199T>G (p.Leu400Arg) c.1124T>G (p.Leu375Arg) c.1067T>G (p.Leu356Arg) | |
| 3 | g.30672356A= | CA1354873258 | TGFBR2 | c.1173A= (p.Leu391=) n.2769A= c.1248A= (p.Leu416=) c.1200A= (p.Leu400=) c.1125A= (p.Leu375=) c.1068A= (p.Leu356=) | |
| 3 | g.30672356A>C | CA432917616 | TGFBR2 | c.1173A>C (p.Leu391=) n.2769A>C c.1248A>C (p.Leu416=) c.1200A>C (p.Leu400=) c.1125A>C (p.Leu375=) c.1068A>C (p.Leu356=) | dbSNP |
| 3 | g.30672356A>G | CA71528877 | TGFBR2 | c.1173A>G (p.Leu391=) n.2769A>G c.1248A>G (p.Leu416=) c.1200A>G (p.Leu400=) c.1125A>G (p.Leu375=) c.1068A>G (p.Leu356=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672356A>T | CA432917617 | TGFBR2 | c.1173A>T (p.Leu391=) n.2769A>T c.1248A>T (p.Leu416=) c.1200A>T (p.Leu400=) c.1125A>T (p.Leu375=) c.1068A>T (p.Leu356=) | dbSNP |
| 3 | g.30672357A>C | CA351808693 | TGFBR2 | c.1174A>C (p.Thr392Pro) n.2770A>C c.1249A>C (p.Thr417Pro) c.1201A>C (p.Thr401Pro) c.1126A>C (p.Thr376Pro) c.1069A>C (p.Thr357Pro) | dbSNP |
| 3 | g.30672357A>G | CA351808694 | TGFBR2 | c.1174A>G (p.Thr392Ala) n.2770A>G c.1249A>G (p.Thr417Ala) c.1201A>G (p.Thr401Ala) c.1126A>G (p.Thr376Ala) c.1069A>G (p.Thr357Ala) | dbSNP |
| 3 | g.30672357A>T | CA351808692 | TGFBR2 | c.1174A>T (p.Thr392Ser) n.2770A>T c.1249A>T (p.Thr417Ser) c.1201A>T (p.Thr401Ser) c.1126A>T (p.Thr376Ser) c.1069A>T (p.Thr357Ser) | dbSNP |
| 3 | g.30672358C>A | CA351808695 | TGFBR2 | c.1175C>A (p.Thr392Asn) n.2771C>A c.1250C>A (p.Thr417Asn) c.1202C>A (p.Thr401Asn) c.1127C>A (p.Thr376Asn) c.1070C>A (p.Thr357Asn) | dbSNP |
| 3 | g.30672358C>G | CA351808696 | TGFBR2 | c.1175C>G (p.Thr392Ser) n.2771C>G c.1250C>G (p.Thr417Ser) c.1202C>G (p.Thr401Ser) c.1127C>G (p.Thr376Ser) c.1070C>G (p.Thr357Ser) | dbSNP |
| 3 | g.30672358C>T | CA351808697 | TGFBR2 | c.1175C>T (p.Thr392Ile) n.2771C>T c.1250C>T (p.Thr417Ile) c.1202C>T (p.Thr401Ile) c.1127C>T (p.Thr376Ile) c.1070C>T (p.Thr357Ile) | dbSNP |
| 3 | g.30672359C>A | CA432917618 | TGFBR2 | c.1176C>A (p.Thr392=) n.2772C>A c.1251C>A (p.Thr417=) c.1203C>A (p.Thr401=) c.1128C>A (p.Thr376=) c.1071C>A (p.Thr357=) | dbSNP |
| 3 | g.30672359C= | CA1354873259 | TGFBR2 | c.1176C= (p.Thr392=) n.2772C= c.1251C= (p.Thr417=) c.1203C= (p.Thr401=) c.1128C= (p.Thr376=) c.1071C= (p.Thr357=) | |
| 3 | g.30672359C>G | CA432917619 | TGFBR2 | c.1176C>G (p.Thr392=) n.2772C>G c.1251C>G (p.Thr417=) c.1203C>G (p.Thr401=) c.1128C>G (p.Thr376=) c.1071C>G (p.Thr357=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672359C>T | CA432917620 | TGFBR2 | c.1176C>T (p.Thr392=) n.2772C>T c.1251C>T (p.Thr417=) c.1203C>T (p.Thr401=) c.1128C>T (p.Thr376=) c.1071C>T (p.Thr357=) | dbSNP |
| 3 | g.30672360T>A | CA351808698 | TGFBR2 | c.1177T>A (p.Cys393Ser) n.2773T>A c.1252T>A (p.Cys418Ser) c.1204T>A (p.Cys402Ser) c.1129T>A (p.Cys377Ser) c.1072T>A (p.Cys358Ser) | |
| 3 | g.30672360T>C | CA351808699 | TGFBR2 | c.1177T>C (p.Cys393Arg) n.2773T>C c.1252T>C (p.Cys418Arg) c.1204T>C (p.Cys402Arg) c.1129T>C (p.Cys377Arg) c.1072T>C (p.Cys358Arg) | ClinVar dbSNP |
| 3 | g.30672360T>G | CA351808700 | TGFBR2 | c.1177T>G (p.Cys393Gly) n.2773T>G c.1252T>G (p.Cys418Gly) c.1204T>G (p.Cys402Gly) c.1129T>G (p.Cys377Gly) c.1072T>G (p.Cys358Gly) | ClinVar dbSNP |