| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 3 | g.30672361G>A | CA10587569 | TGFBR2 | c.1178G>A (p.Cys393Tyr) n.2774G>A c.1253G>A (p.Cys418Tyr) c.1205G>A (p.Cys402Tyr) c.1130G>A (p.Cys377Tyr) c.1073G>A (p.Cys358Tyr) | ClinVar dbSNP |
| 3 | g.30672361G>C | CA351808701 | TGFBR2 | c.1178G>C (p.Cys393Ser) n.2774G>C c.1253G>C (p.Cys418Ser) c.1205G>C (p.Cys402Ser) c.1130G>C (p.Cys377Ser) c.1073G>C (p.Cys358Ser) | dbSNP |
| 3 | g.30672361G= | CA1354873260 | TGFBR2 | c.1178G= (p.Cys393=) n.2774G= c.1253G= (p.Cys418=) c.1205G= (p.Cys402=) c.1130G= (p.Cys377=) c.1073G= (p.Cys358=) | |
| 3 | g.30672361G>T | CA351808702 | TGFBR2 | c.1178G>T (p.Cys393Phe) n.2774G>T c.1253G>T (p.Cys418Phe) c.1205G>T (p.Cys402Phe) c.1130G>T (p.Cys377Phe) c.1073G>T (p.Cys358Phe) | dbSNP COSMIC COSMIC |
| 3 | g.30672362C>A | CA351808703 | TGFBR2 | c.1179C>A (p.Cys393Ter) n.2775C>A c.1254C>A (p.Cys418Ter) c.1206C>A (p.Cys402Ter) c.1131C>A (p.Cys377Ter) c.1074C>A (p.Cys358Ter) | dbSNP |
| 3 | g.30672362C>G | CA351808704 | TGFBR2 | c.1179C>G (p.Cys393Trp) n.2775C>G c.1254C>G (p.Cys418Trp) c.1206C>G (p.Cys402Trp) c.1131C>G (p.Cys377Trp) c.1074C>G (p.Cys358Trp) | dbSNP |
| 3 | g.30672362C>T | CA432917621 | TGFBR2 | c.1179C>T (p.Cys393=) n.2775C>T c.1254C>T (p.Cys418=) c.1206C>T (p.Cys402=) c.1131C>T (p.Cys377=) c.1074C>T (p.Cys358=) | ClinVar dbSNP |
| 3 | g.30672363T>A | CA351808705 | TGFBR2 | c.1180T>A (p.Cys394Ser) n.2776T>A c.1255T>A (p.Cys419Ser) c.1207T>A (p.Cys403Ser) c.1132T>A (p.Cys378Ser) c.1075T>A (p.Cys359Ser) | |
| 3 | g.30672363T>C | CA351808706 | TGFBR2 | c.1180T>C (p.Cys394Arg) n.2776T>C c.1255T>C (p.Cys419Arg) c.1207T>C (p.Cys403Arg) c.1132T>C (p.Cys378Arg) c.1075T>C (p.Cys359Arg) | |
| 3 | g.30672363T>G | CA351808707 | TGFBR2 | c.1180T>G (p.Cys394Gly) n.2776T>G c.1255T>G (p.Cys419Gly) c.1207T>G (p.Cys403Gly) c.1132T>G (p.Cys378Gly) c.1075T>G (p.Cys359Gly) | gnomAD v4 |
| 3 | g.30672364G>A | CA351808708 | TGFBR2 | c.1181G>A (p.Cys394Tyr) n.2777G>A c.1256G>A (p.Cys419Tyr) c.1208G>A (p.Cys403Tyr) c.1133G>A (p.Cys378Tyr) c.1076G>A (p.Cys359Tyr) | ClinVar dbSNP |
| 3 | g.30672364G>C | CA351808710 | TGFBR2 | c.1181G>C (p.Cys394Ser) n.2777G>C c.1256G>C (p.Cys419Ser) c.1208G>C (p.Cys403Ser) c.1133G>C (p.Cys378Ser) c.1076G>C (p.Cys359Ser) | dbSNP |
| 3 | g.30672364G= | CA1354873261 | TGFBR2 | c.1181G= (p.Cys394=) n.2777G= c.1256G= (p.Cys419=) c.1208G= (p.Cys403=) c.1133G= (p.Cys378=) c.1076G= (p.Cys359=) | |
| 3 | g.30672364G>T | CA351808709 | TGFBR2 | c.1181G>T (p.Cys394Phe) n.2777G>T c.1256G>T (p.Cys419Phe) c.1208G>T (p.Cys403Phe) c.1133G>T (p.Cys378Phe) c.1076G>T (p.Cys359Phe) | COSMIC |
| 3 | g.30672365C>A | CA351808711 | TGFBR2 | c.1182C>A (p.Cys394Ter) n.2778C>A c.1257C>A (p.Cys419Ter) c.1209C>A (p.Cys403Ter) c.1134C>A (p.Cys378Ter) c.1077C>A (p.Cys359Ter) | dbSNP |
| 3 | g.30672365C>G | CA351808712 | TGFBR2 | c.1182C>G (p.Cys394Trp) n.2778C>G c.1257C>G (p.Cys419Trp) c.1209C>G (p.Cys403Trp) c.1134C>G (p.Cys378Trp) c.1077C>G (p.Cys359Trp) | dbSNP |
| 3 | g.30672365C>T | CA432917622 | TGFBR2 | c.1182C>T (p.Cys394=) n.2778C>T c.1257C>T (p.Cys419=) c.1209C>T (p.Cys403=) c.1134C>T (p.Cys378=) c.1077C>T (p.Cys359=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672366C>A | CA351808713 | TGFBR2 | c.1183C>A (p.Leu395Met) n.2779C>A c.1258C>A (p.Leu420Met) c.1210C>A (p.Leu404Met) c.1135C>A (p.Leu379Met) c.1078C>A (p.Leu360Met) | |
| 3 | g.30672366C>G | CA351808714 | TGFBR2 | c.1183C>G (p.Leu395Val) n.2779C>G c.1258C>G (p.Leu420Val) c.1210C>G (p.Leu404Val) c.1135C>G (p.Leu379Val) c.1078C>G (p.Leu360Val) | gnomAD v4 |
| 3 | g.30672366C>T | CA432917623 | TGFBR2 | c.1183C>T (p.Leu395=) n.2779C>T c.1258C>T (p.Leu420=) c.1210C>T (p.Leu404=) c.1135C>T (p.Leu379=) c.1078C>T (p.Leu360=) | |
| 3 | g.30672367T>A | CA351808715 | TGFBR2 | c.1184T>A (p.Leu395Gln) n.2780T>A c.1259T>A (p.Leu420Gln) c.1211T>A (p.Leu404Gln) c.1136T>A (p.Leu379Gln) c.1079T>A (p.Leu360Gln) | ClinVar dbSNP |
| 3 | g.30672367T>C | CA351808716 | TGFBR2 | c.1184T>C (p.Leu395Pro) n.2780T>C c.1259T>C (p.Leu420Pro) c.1211T>C (p.Leu404Pro) c.1136T>C (p.Leu379Pro) c.1079T>C (p.Leu360Pro) | ClinVar dbSNP |
| 3 | g.30672367T>G | CA351808717 | TGFBR2 | c.1184T>G (p.Leu395Arg) n.2780T>G c.1259T>G (p.Leu420Arg) c.1211T>G (p.Leu404Arg) c.1136T>G (p.Leu379Arg) c.1079T>G (p.Leu360Arg) | |
| 3 | g.30672368G>A | CA432917625 | TGFBR2 | c.1185G>A (p.Leu395=) n.2781G>A c.1260G>A (p.Leu420=) c.1212G>A (p.Leu404=) c.1137G>A (p.Leu379=) c.1080G>A (p.Leu360=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672368G>C | CA020633 | TGFBR2 | c.1185G>C (p.Leu395=) n.2781G>C c.1260G>C (p.Leu420=) c.1212G>C (p.Leu404=) c.1137G>C (p.Leu379=) c.1080G>C (p.Leu360=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672368G= | CA1354873262 | TGFBR2 | c.1185G= (p.Leu395=) n.2781G= c.1260G= (p.Leu420=) c.1212G= (p.Leu404=) c.1137G= (p.Leu379=) c.1080G= (p.Leu360=) | |
| 3 | g.30672368G>T | CA432917624 | TGFBR2 | c.1185G>T (p.Leu395=) n.2781G>T c.1260G>T (p.Leu420=) c.1212G>T (p.Leu404=) c.1137G>T (p.Leu379=) c.1080G>T (p.Leu360=) | ClinVar dbSNP |
| 3 | g.30672369T>A | CA351808718 | TGFBR2 | c.1186T>A (p.Cys396Ser) n.2782T>A c.1261T>A (p.Cys421Ser) c.1213T>A (p.Cys405Ser) c.1138T>A (p.Cys380Ser) c.1081T>A (p.Cys361Ser) | dbSNP |
| 3 | g.30672369T>C | CA351808719 | TGFBR2 | c.1186T>C (p.Cys396Arg) n.2782T>C c.1261T>C (p.Cys421Arg) c.1213T>C (p.Cys405Arg) c.1138T>C (p.Cys380Arg) c.1081T>C (p.Cys361Arg) | dbSNP |
| 3 | g.30672369T>G | CA351808720 | TGFBR2 | c.1186T>G (p.Cys396Gly) n.2782T>G c.1261T>G (p.Cys421Gly) c.1213T>G (p.Cys405Gly) c.1138T>G (p.Cys380Gly) c.1081T>G (p.Cys361Gly) | |
| 3 | g.30672370G>A | CA351808723 | TGFBR2 | c.1187G>A (p.Cys396Tyr) n.2783G>A c.1262G>A (p.Cys421Tyr) c.1214G>A (p.Cys405Tyr) c.1139G>A (p.Cys380Tyr) c.1082G>A (p.Cys361Tyr) | ClinVar dbSNP |
| 3 | g.30672370G>C | CA351808722 | TGFBR2 | c.1187G>C (p.Cys396Ser) n.2783G>C c.1262G>C (p.Cys421Ser) c.1214G>C (p.Cys405Ser) c.1139G>C (p.Cys380Ser) c.1082G>C (p.Cys361Ser) | dbSNP |
| 3 | g.30672370G>T | CA351808721 | TGFBR2 | c.1187G>T (p.Cys396Phe) n.2783G>T c.1262G>T (p.Cys421Phe) c.1214G>T (p.Cys405Phe) c.1139G>T (p.Cys380Phe) c.1082G>T (p.Cys361Phe) | |
| 3 | g.30672371T>A | CA351808724 | TGFBR2 | c.1188T>A (p.Cys396Ter) n.2784T>A c.1263T>A (p.Cys421Ter) c.1215T>A (p.Cys405Ter) c.1140T>A (p.Cys380Ter) c.1083T>A (p.Cys361Ter) | dbSNP |
| 3 | g.30672371T>C | CA432917626 | TGFBR2 | c.1188T>C (p.Cys396=) n.2784T>C c.1263T>C (p.Cys421=) c.1215T>C (p.Cys405=) c.1140T>C (p.Cys380=) c.1083T>C (p.Cys361=) | dbSNP |
| 3 | g.30672371T>G | CA351808725 | TGFBR2 | c.1188T>G (p.Cys396Trp) n.2784T>G c.1263T>G (p.Cys421Trp) c.1215T>G (p.Cys405Trp) c.1140T>G (p.Cys380Trp) c.1083T>G (p.Cys361Trp) | dbSNP |
| 3 | g.30672372G>A | CA10587567 | TGFBR2 | c.1189G>A (p.Asp397Asn) n.2785G>A c.1264G>A (p.Asp422Asn) c.1216G>A (p.Asp406Asn) c.1141G>A (p.Asp381Asn) c.1084G>A (p.Asp362Asn) | ClinVar dbSNP |
| 3 | g.30672372G>C | CA351808726 | TGFBR2 | c.1189G>C (p.Asp397His) n.2785G>C c.1264G>C (p.Asp422His) c.1216G>C (p.Asp406His) c.1141G>C (p.Asp381His) c.1084G>C (p.Asp362His) | dbSNP |
| 3 | g.30672372G= | CA1354873263 | TGFBR2 | c.1189G= (p.Asp397=) n.2785G= c.1264G= (p.Asp422=) c.1216G= (p.Asp406=) c.1141G= (p.Asp381=) c.1084G= (p.Asp362=) | |
| 3 | g.30672372G>T | CA322774 | TGFBR2 | c.1189G>T (p.Asp397Tyr) n.2785G>T c.1264G>T (p.Asp422Tyr) c.1216G>T (p.Asp406Tyr) c.1141G>T (p.Asp381Tyr) c.1084G>T (p.Asp362Tyr) | ClinVar dbSNP |
| 3 | g.30672373A= | CA1354873264 | TGFBR2 | c.1190A= (p.Asp397=) n.2786A= c.1265A= (p.Asp422=) c.1217A= (p.Asp406=) c.1142A= (p.Asp381=) c.1085A= (p.Asp362=) | |
| 3 | g.30672373A>C | CA351808727 | TGFBR2 | c.1190A>C (p.Asp397Ala) n.2786A>C c.1265A>C (p.Asp422Ala) c.1217A>C (p.Asp406Ala) c.1142A>C (p.Asp381Ala) c.1085A>C (p.Asp362Ala) | dbSNP |
| 3 | g.30672373A>G | CA325083 | TGFBR2 | c.1190A>G (p.Asp397Gly) n.2786A>G c.1265A>G (p.Asp422Gly) c.1217A>G (p.Asp406Gly) c.1142A>G (p.Asp381Gly) c.1085A>G (p.Asp362Gly) | ClinVar dbSNP |
| 3 | g.30672373A>T | CA351808728 | TGFBR2 | c.1190A>T (p.Asp397Val) n.2786A>T c.1265A>T (p.Asp422Val) c.1217A>T (p.Asp406Val) c.1142A>T (p.Asp381Val) c.1085A>T (p.Asp362Val) | dbSNP |
| 3 | g.30672374C>A | CA351808729 | TGFBR2 | c.1191C>A (p.Asp397Glu) n.2787C>A c.1266C>A (p.Asp422Glu) c.1218C>A (p.Asp406Glu) c.1143C>A (p.Asp381Glu) c.1086C>A (p.Asp362Glu) | |
| 3 | g.30672374C>G | CA351808730 | TGFBR2 | c.1191C>G (p.Asp397Glu) n.2787C>G c.1266C>G (p.Asp422Glu) c.1218C>G (p.Asp406Glu) c.1143C>G (p.Asp381Glu) c.1086C>G (p.Asp362Glu) | ClinVar dbSNP |
| 3 | g.30672374C>T | CA432917627 | TGFBR2 | c.1191C>T (p.Asp397=) n.2787C>T c.1266C>T (p.Asp422=) c.1218C>T (p.Asp406=) c.1143C>T (p.Asp381=) c.1086C>T (p.Asp362=) | dbSNP |
| 3 | g.30672375T>A | CA351808731 | TGFBR2 | c.1192T>A (p.Phe398Ile) n.2788T>A c.1267T>A (p.Phe423Ile) c.1219T>A (p.Phe407Ile) c.1144T>A (p.Phe382Ile) c.1087T>A (p.Phe363Ile) | dbSNP |
| 3 | g.30672375T>C | CA351808732 | TGFBR2 | c.1192T>C (p.Phe398Leu) n.2788T>C c.1267T>C (p.Phe423Leu) c.1219T>C (p.Phe407Leu) c.1144T>C (p.Phe382Leu) c.1087T>C (p.Phe363Leu) | ClinVar dbSNP |
| 3 | g.30672375T>G | CA351808733 | TGFBR2 | c.1192T>G (p.Phe398Val) n.2788T>G c.1267T>G (p.Phe423Val) c.1219T>G (p.Phe407Val) c.1144T>G (p.Phe382Val) c.1087T>G (p.Phe363Val) | |
| 3 | g.30672376T>A | CA351808736 | TGFBR2 | c.1193T>A (p.Phe398Tyr) n.2789T>A c.1268T>A (p.Phe423Tyr) c.1220T>A (p.Phe407Tyr) c.1145T>A (p.Phe382Tyr) c.1088T>A (p.Phe363Tyr) | dbSNP |
| 3 | g.30672376T>C | CA351808735 | TGFBR2 | c.1193T>C (p.Phe398Ser) n.2789T>C c.1268T>C (p.Phe423Ser) c.1220T>C (p.Phe407Ser) c.1145T>C (p.Phe382Ser) c.1088T>C (p.Phe363Ser) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30672376T>G | CA351808734 | TGFBR2 | c.1193T>G (p.Phe398Cys) n.2789T>G c.1268T>G (p.Phe423Cys) c.1220T>G (p.Phe407Cys) c.1145T>G (p.Phe382Cys) c.1088T>G (p.Phe363Cys) | ClinVar dbSNP |
| 3 | g.30672376T= | CA1354873265 | TGFBR2 | c.1193T= (p.Phe398=) n.2789T= c.1268T= (p.Phe423=) c.1220T= (p.Phe407=) c.1145T= (p.Phe382=) c.1088T= (p.Phe363=) | |
| 3 | g.30672377T>A | CA351808737 | TGFBR2 | c.1194T>A (p.Phe398Leu) n.2790T>A c.1269T>A (p.Phe423Leu) c.1221T>A (p.Phe407Leu) c.1146T>A (p.Phe382Leu) c.1089T>A (p.Phe363Leu) | |
| 3 | g.30672377T>C | CA432917628 | TGFBR2 | c.1194T>C (p.Phe398=) n.2790T>C c.1269T>C (p.Phe423=) c.1221T>C (p.Phe407=) c.1146T>C (p.Phe382=) c.1089T>C (p.Phe363=) | COSMIC COSMIC |
| 3 | g.30672377T>G | CA71528929 | TGFBR2 | c.1194T>G (p.Phe398Leu) n.2790T>G c.1269T>G (p.Phe423Leu) c.1221T>G (p.Phe407Leu) c.1146T>G (p.Phe382Leu) c.1089T>G (p.Phe363Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672377T= | CA1354873266 | TGFBR2 | c.1194T= (p.Phe398=) n.2790T= c.1269T= (p.Phe423=) c.1221T= (p.Phe407=) c.1146T= (p.Phe382=) c.1089T= (p.Phe363=) | |
| 3 | g.30672378G>A | CA351808738 | TGFBR2 | c.1195G>A (p.Gly399Arg) n.2791G>A c.1270G>A (p.Gly424Arg) c.1222G>A (p.Gly408Arg) c.1147G>A (p.Gly383Arg) c.1090G>A (p.Gly364Arg) | dbSNP |
| 3 | g.30672378G>C | CA71528937 | TGFBR2 | c.1195G>C (p.Gly399Arg) n.2791G>C c.1270G>C (p.Gly424Arg) c.1222G>C (p.Gly408Arg) c.1147G>C (p.Gly383Arg) c.1090G>C (p.Gly364Arg) | dbSNP |
| 3 | g.30672378G= | CA1354873267 | TGFBR2 | c.1195G= (p.Gly399=) n.2791G= c.1270G= (p.Gly424=) c.1222G= (p.Gly408=) c.1147G= (p.Gly383=) c.1090G= (p.Gly364=) | |
| 3 | g.30672378G>T | CA351808739 | TGFBR2 | c.1195G>T (p.Gly399Trp) n.2791G>T c.1270G>T (p.Gly424Trp) c.1222G>T (p.Gly408Trp) c.1147G>T (p.Gly383Trp) c.1090G>T (p.Gly364Trp) | dbSNP |
| 3 | g.30672379G>A | CA351808740 | TGFBR2 | c.1196G>A (p.Gly399Glu) n.2792G>A c.1271G>A (p.Gly424Glu) c.1223G>A (p.Gly408Glu) c.1148G>A (p.Gly383Glu) c.1091G>A (p.Gly364Glu) | dbSNP |
| 3 | g.30672379G>C | CA351808741 | TGFBR2 | c.1196G>C (p.Gly399Ala) n.2792G>C c.1271G>C (p.Gly424Ala) c.1223G>C (p.Gly408Ala) c.1148G>C (p.Gly383Ala) c.1091G>C (p.Gly364Ala) | dbSNP COSMIC COSMIC |
| 3 | g.30672379G>T | CA351808742 | TGFBR2 | c.1196G>T (p.Gly399Val) n.2792G>T c.1271G>T (p.Gly424Val) c.1223G>T (p.Gly408Val) c.1148G>T (p.Gly383Val) c.1091G>T (p.Gly364Val) | dbSNP |
| 3 | g.30672380G>A | CA432917629 | TGFBR2 | c.1197G>A (p.Gly399=) n.2793G>A c.1272G>A (p.Gly424=) c.1224G>A (p.Gly408=) c.1149G>A (p.Gly383=) c.1092G>A (p.Gly364=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672380G>C | CA432917630 | TGFBR2 | c.1197G>C (p.Gly399=) n.2793G>C c.1272G>C (p.Gly424=) c.1224G>C (p.Gly408=) c.1149G>C (p.Gly383=) c.1092G>C (p.Gly364=) | |
| 3 | g.30672380G>T | CA432917631 | TGFBR2 | c.1197G>T (p.Gly399=) n.2793G>T c.1272G>T (p.Gly424=) c.1224G>T (p.Gly408=) c.1149G>T (p.Gly383=) c.1092G>T (p.Gly364=) | |
| 3 | g.30672381C>A | CA351808743 | TGFBR2 | c.1198C>A (p.Leu400Ile) n.2794C>A c.1273C>A (p.Leu425Ile) c.1225C>A (p.Leu409Ile) c.1150C>A (p.Leu384Ile) c.1093C>A (p.Leu365Ile) | |
| 3 | g.30672381C>G | CA351808744 | TGFBR2 | c.1198C>G (p.Leu400Val) n.2794C>G c.1273C>G (p.Leu425Val) c.1225C>G (p.Leu409Val) c.1150C>G (p.Leu384Val) c.1093C>G (p.Leu365Val) | |
| 3 | g.30672381C>T | CA351808745 | TGFBR2 | c.1198C>T (p.Leu400Phe) n.2794C>T c.1273C>T (p.Leu425Phe) c.1225C>T (p.Leu409Phe) c.1150C>T (p.Leu384Phe) c.1093C>T (p.Leu365Phe) | |
| 3 | g.30672382T>A | CA351808746 | TGFBR2 | c.1199T>A (p.Leu400His) n.2795T>A c.1274T>A (p.Leu425His) c.1226T>A (p.Leu409His) c.1151T>A (p.Leu384His) c.1094T>A (p.Leu365His) | ClinVar dbSNP |
| 3 | g.30672382T>C | CA351808747 | TGFBR2 | c.1199T>C (p.Leu400Pro) n.2795T>C c.1274T>C (p.Leu425Pro) c.1226T>C (p.Leu409Pro) c.1151T>C (p.Leu384Pro) c.1094T>C (p.Leu365Pro) | dbSNP |
| 3 | g.30672382T>G | CA351808748 | TGFBR2 | c.1199T>G (p.Leu400Arg) n.2795T>G c.1274T>G (p.Leu425Arg) c.1226T>G (p.Leu409Arg) c.1151T>G (p.Leu384Arg) c.1094T>G (p.Leu365Arg) | |
| 3 | g.30672383T>A | CA432917632 | TGFBR2 | c.1200T>A (p.Leu400=) n.2796T>A c.1275T>A (p.Leu425=) c.1227T>A (p.Leu409=) c.1152T>A (p.Leu384=) c.1095T>A (p.Leu365=) | dbSNP |
| 3 | g.30672383T>C | CA432917633 | TGFBR2 | c.1200T>C (p.Leu400=) n.2796T>C c.1275T>C (p.Leu425=) c.1227T>C (p.Leu409=) c.1152T>C (p.Leu384=) c.1095T>C (p.Leu365=) | dbSNP |
| 3 | g.30672383T>G | CA432917634 | TGFBR2 | c.1200T>G (p.Leu400=) n.2796T>G c.1275T>G (p.Leu425=) c.1227T>G (p.Leu409=) c.1152T>G (p.Leu384=) c.1095T>G (p.Leu365=) | |
| 3 | g.30672384T>A | CA351808750 | TGFBR2 | c.1201T>A (p.Ser401Thr) n.2797T>A c.1276T>A (p.Ser426Thr) c.1228T>A (p.Ser410Thr) c.1153T>A (p.Ser385Thr) c.1096T>A (p.Ser366Thr) | |
| 3 | g.30672384T>C | CA351808751 | TGFBR2 | c.1201T>C (p.Ser401Pro) n.2797T>C c.1276T>C (p.Ser426Pro) c.1228T>C (p.Ser410Pro) c.1153T>C (p.Ser385Pro) c.1096T>C (p.Ser366Pro) | |
| 3 | g.30672384T>G | CA351808749 | TGFBR2 | c.1201T>G (p.Ser401Ala) n.2797T>G c.1276T>G (p.Ser426Ala) c.1228T>G (p.Ser410Ala) c.1153T>G (p.Ser385Ala) c.1096T>G (p.Ser366Ala) | |
| 3 | g.30672385C>A | CA351808752 | TGFBR2 | c.1202C>A (p.Ser401Tyr) n.2798C>A c.1277C>A (p.Ser426Tyr) c.1229C>A (p.Ser410Tyr) c.1154C>A (p.Ser385Tyr) c.1097C>A (p.Ser366Tyr) | |
| 3 | g.30672385C= | CA1354873268 | TGFBR2 | c.1202C= (p.Ser401=) n.2798C= c.1277C= (p.Ser426=) c.1229C= (p.Ser410=) c.1154C= (p.Ser385=) c.1097C= (p.Ser366=) | |
| 3 | g.30672385C>G | CA351808753 | TGFBR2 | c.1202C>G (p.Ser401Cys) n.2798C>G c.1277C>G (p.Ser426Cys) c.1229C>G (p.Ser410Cys) c.1154C>G (p.Ser385Cys) c.1097C>G (p.Ser366Cys) | ClinVar dbSNP |
| 3 | g.30672385C>T | CA351808754 | TGFBR2 | c.1202C>T (p.Ser401Phe) n.2798C>T c.1277C>T (p.Ser426Phe) c.1229C>T (p.Ser410Phe) c.1154C>T (p.Ser385Phe) c.1097C>T (p.Ser366Phe) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30672386C>A | CA432917635 | TGFBR2 | c.1203C>A (p.Ser401=) n.2799C>A c.1278C>A (p.Ser426=) c.1230C>A (p.Ser410=) c.1155C>A (p.Ser385=) c.1098C>A (p.Ser366=) | dbSNP |
| 3 | g.30672386C>G | CA432917637 | TGFBR2 | c.1203C>G (p.Ser401=) n.2799C>G c.1278C>G (p.Ser426=) c.1230C>G (p.Ser410=) c.1155C>G (p.Ser385=) c.1098C>G (p.Ser366=) | dbSNP |
| 3 | g.30672386C>T | CA432917636 | TGFBR2 | c.1203C>T (p.Ser401=) n.2799C>T c.1278C>T (p.Ser426=) c.1230C>T (p.Ser410=) c.1155C>T (p.Ser385=) c.1098C>T (p.Ser366=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672387C>A | CA351808755 | TGFBR2 | c.1204C>A (p.Leu402Met) n.2800C>A c.1279C>A (p.Leu427Met) c.1231C>A (p.Leu411Met) c.1156C>A (p.Leu386Met) c.1099C>A (p.Leu367Met) | dbSNP |
| 3 | g.30672387C>G | CA351808756 | TGFBR2 | c.1204C>G (p.Leu402Val) n.2800C>G c.1279C>G (p.Leu427Val) c.1231C>G (p.Leu411Val) c.1156C>G (p.Leu386Val) c.1099C>G (p.Leu367Val) | dbSNP |
| 3 | g.30672387C>T | CA432917638 | TGFBR2 | c.1204C>T (p.Leu402=) n.2800C>T c.1279C>T (p.Leu427=) c.1231C>T (p.Leu411=) c.1156C>T (p.Leu386=) c.1099C>T (p.Leu367=) | dbSNP |
| 3 | g.30672388T>A | CA351808757 | TGFBR2 | c.1205T>A (p.Leu402Gln) n.2801T>A c.1280T>A (p.Leu427Gln) c.1232T>A (p.Leu411Gln) c.1157T>A (p.Leu386Gln) c.1100T>A (p.Leu367Gln) | dbSNP |
| 3 | g.30672388T>C | CA351808758 | TGFBR2 | c.1205T>C (p.Leu402Pro) n.2801T>C c.1280T>C (p.Leu427Pro) c.1232T>C (p.Leu411Pro) c.1157T>C (p.Leu386Pro) c.1100T>C (p.Leu367Pro) | dbSNP COSMIC COSMIC |
| 3 | g.30672388T>G | CA351808759 | TGFBR2 | c.1205T>G (p.Leu402Arg) n.2801T>G c.1280T>G (p.Leu427Arg) c.1232T>G (p.Leu411Arg) c.1157T>G (p.Leu386Arg) c.1100T>G (p.Leu367Arg) | dbSNP |
| 3 | g.30672389G>A | CA432917639 | TGFBR2 | c.1206G>A (p.Leu402=) n.2802G>A c.1281G>A (p.Leu427=) c.1233G>A (p.Leu411=) c.1158G>A (p.Leu386=) c.1101G>A (p.Leu367=) | |
| 3 | g.30672389G>C | CA432917640 | TGFBR2 | c.1206G>C (p.Leu402=) n.2802G>C c.1281G>C (p.Leu427=) c.1233G>C (p.Leu411=) c.1158G>C (p.Leu386=) c.1101G>C (p.Leu367=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672389G= | CA1354873269 | TGFBR2 | c.1206G= (p.Leu402=) n.2802G= c.1281G= (p.Leu427=) c.1233G= (p.Leu411=) c.1158G= (p.Leu386=) c.1101G= (p.Leu367=) | |
| 3 | g.30672389G>T | CA045905 | TGFBR2 | c.1206G>T (p.Leu402=) n.2802G>T c.1281G>T (p.Leu427=) c.1233G>T (p.Leu411=) c.1158G>T (p.Leu386=) c.1101G>T (p.Leu367=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672390C>A | CA351808760 | TGFBR2 | c.1207C>A (p.Arg403Ser) n.2803C>A c.1282C>A (p.Arg428Ser) c.1234C>A (p.Arg412Ser) c.1159C>A (p.Arg387Ser) c.1102C>A (p.Arg368Ser) | |
| 3 | g.30672390C= | CA1354873270 | TGFBR2 | c.1207C= (p.Arg403=) n.2803C= c.1282C= (p.Arg428=) c.1234C= (p.Arg412=) c.1159C= (p.Arg387=) c.1102C= (p.Arg368=) | |
| 3 | g.30672390C>G | CA351808761 | TGFBR2 | c.1207C>G (p.Arg403Gly) n.2803C>G c.1282C>G (p.Arg428Gly) c.1234C>G (p.Arg412Gly) c.1159C>G (p.Arg387Gly) c.1102C>G (p.Arg368Gly) | dbSNP |
| 3 | g.30672390C>T | CA10587572 | TGFBR2 | c.1207C>T (p.Arg403Cys) n.2803C>T c.1282C>T (p.Arg428Cys) c.1234C>T (p.Arg412Cys) c.1159C>T (p.Arg387Cys) c.1102C>T (p.Arg368Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672391G>A | CA045917 | TGFBR2 | c.1208G>A (p.Arg403His) n.2804G>A c.1283G>A (p.Arg428His) c.1235G>A (p.Arg412His) c.1160G>A (p.Arg387His) c.1103G>A (p.Arg368His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.30672391G>C | CA351808763 | TGFBR2 | c.1208G>C (p.Arg403Pro) n.2804G>C c.1283G>C (p.Arg428Pro) c.1235G>C (p.Arg412Pro) c.1160G>C (p.Arg387Pro) c.1103G>C (p.Arg368Pro) | dbSNP |
| 3 | g.30672391G= | CA1354873271 | TGFBR2 | c.1208G= (p.Arg403=) n.2804G= c.1283G= (p.Arg428=) c.1235G= (p.Arg412=) c.1160G= (p.Arg387=) c.1103G= (p.Arg368=) | |
| 3 | g.30672391G>T | CA351808762 | TGFBR2 | c.1208G>T (p.Arg403Leu) n.2804G>T c.1283G>T (p.Arg428Leu) c.1235G>T (p.Arg412Leu) c.1160G>T (p.Arg387Leu) c.1103G>T (p.Arg368Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.30672392T>A | CA432917641 | TGFBR2 | c.1209T>A (p.Arg403=) n.2805T>A c.1284T>A (p.Arg428=) c.1236T>A (p.Arg412=) c.1161T>A (p.Arg387=) c.1104T>A (p.Arg368=) | dbSNP |
| 3 | g.30672392T>C | CA432917642 | TGFBR2 | c.1209T>C (p.Arg403=) n.2805T>C c.1284T>C (p.Arg428=) c.1236T>C (p.Arg412=) c.1161T>C (p.Arg387=) c.1104T>C (p.Arg368=) | dbSNP |
| 3 | g.30672392T>G | CA432917643 | TGFBR2 | c.1209T>G (p.Arg403=) n.2805T>G c.1284T>G (p.Arg428=) c.1236T>G (p.Arg412=) c.1161T>G (p.Arg387=) c.1104T>G (p.Arg368=) | dbSNP |
| 3 | g.30672393C>A | CA351808764 | TGFBR2 | c.1210C>A (p.Leu404Met) n.2806C>A c.1285C>A (p.Leu429Met) c.1237C>A (p.Leu413Met) c.1162C>A (p.Leu388Met) c.1105C>A (p.Leu369Met) | dbSNP |
| 3 | g.30672393C= | CA1354873272 | TGFBR2 | c.1210C= (p.Leu404=) n.2806C= c.1285C= (p.Leu429=) c.1237C= (p.Leu413=) c.1162C= (p.Leu388=) c.1105C= (p.Leu369=) | |
| 3 | g.30672393C>G | CA351808765 | TGFBR2 | c.1210C>G (p.Leu404Val) n.2806C>G c.1285C>G (p.Leu429Val) c.1237C>G (p.Leu413Val) c.1162C>G (p.Leu388Val) c.1105C>G (p.Leu369Val) | dbSNP |
| 3 | g.30672393C>T | CA432917644 | TGFBR2 | c.1210C>T (p.Leu404=) n.2806C>T c.1285C>T (p.Leu429=) c.1237C>T (p.Leu413=) c.1162C>T (p.Leu388=) c.1105C>T (p.Leu369=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672394T>A | CA351808766 | TGFBR2 | c.1211T>A (p.Leu404Gln) n.2807T>A c.1286T>A (p.Leu429Gln) c.1238T>A (p.Leu413Gln) c.1163T>A (p.Leu388Gln) c.1106T>A (p.Leu369Gln) | dbSNP |
| 3 | g.30672394T>C | CA351808767 | TGFBR2 | c.1211T>C (p.Leu404Pro) n.2807T>C c.1286T>C (p.Leu429Pro) c.1238T>C (p.Leu413Pro) c.1163T>C (p.Leu388Pro) c.1106T>C (p.Leu369Pro) | dbSNP |
| 3 | g.30672394T>G | CA351808768 | TGFBR2 | c.1211T>G (p.Leu404Arg) n.2807T>G c.1286T>G (p.Leu429Arg) c.1238T>G (p.Leu413Arg) c.1163T>G (p.Leu388Arg) c.1106T>G (p.Leu369Arg) | COSMIC |
| 3 | g.30672395G>A | CA432917648 | TGFBR2 | c.1212G>A (p.Leu404=) n.2808G>A c.1287G>A (p.Leu429=) c.1239G>A (p.Leu413=) c.1164G>A (p.Leu388=) c.1107G>A (p.Leu369=) | |
| 3 | g.30672395G>C | CA432917646 | TGFBR2 | c.1212G>C (p.Leu404=) n.2808G>C c.1287G>C (p.Leu429=) c.1239G>C (p.Leu413=) c.1164G>C (p.Leu388=) c.1107G>C (p.Leu369=) | |
| 3 | g.30672395G>T | CA432917647 | TGFBR2 | c.1212G>T (p.Leu404=) n.2808G>T c.1287G>T (p.Leu429=) c.1239G>T (p.Leu413=) c.1164G>T (p.Leu388=) c.1107G>T (p.Leu369=) | |
| 3 | g.30672396G>A | CA351808769 | TGFBR2 | c.1213G>A (p.Asp405Asn) n.2809G>A c.1288G>A (p.Asp430Asn) c.1240G>A (p.Asp414Asn) c.1165G>A (p.Asp389Asn) c.1108G>A (p.Asp370Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672396G>C | CA351808770 | TGFBR2 | c.1213G>C (p.Asp405His) n.2809G>C c.1288G>C (p.Asp430His) c.1240G>C (p.Asp414His) c.1165G>C (p.Asp389His) c.1108G>C (p.Asp370His) | dbSNP |
| 3 | g.30672396G= | CA1354873273 | TGFBR2 | c.1213G= (p.Asp405=) n.2809G= c.1288G= (p.Asp430=) c.1240G= (p.Asp414=) c.1165G= (p.Asp389=) c.1108G= (p.Asp370=) | |
| 3 | g.30672396G>T | CA351808771 | TGFBR2 | c.1213G>T (p.Asp405Tyr) n.2809G>T c.1288G>T (p.Asp430Tyr) c.1240G>T (p.Asp414Tyr) c.1165G>T (p.Asp389Tyr) c.1108G>T (p.Asp370Tyr) | dbSNP |
| 3 | g.30672397A>C | CA351808772 | TGFBR2 | c.1214A>C (p.Asp405Ala) n.2810A>C c.1289A>C (p.Asp430Ala) c.1241A>C (p.Asp414Ala) c.1166A>C (p.Asp389Ala) c.1109A>C (p.Asp370Ala) | dbSNP |
| 3 | g.30672397A>G | CA351808773 | TGFBR2 | c.1214A>G (p.Asp405Gly) n.2810A>G c.1289A>G (p.Asp430Gly) c.1241A>G (p.Asp414Gly) c.1166A>G (p.Asp389Gly) c.1109A>G (p.Asp370Gly) | dbSNP |
| 3 | g.30672397A>T | CA351808774 | TGFBR2 | c.1214A>T (p.Asp405Val) n.2810A>T c.1289A>T (p.Asp430Val) c.1241A>T (p.Asp414Val) c.1166A>T (p.Asp389Val) c.1109A>T (p.Asp370Val) | dbSNP |
| 3 | g.30672398C>A | CA351808775 | TGFBR2 | c.1215C>A (p.Asp405Glu) n.2811C>A c.1290C>A (p.Asp430Glu) c.1242C>A (p.Asp414Glu) c.1167C>A (p.Asp389Glu) c.1110C>A (p.Asp370Glu) | dbSNP |
| 3 | g.30672398C= | CA1354873274 | TGFBR2 | c.1215C= (p.Asp405=) n.2811C= c.1290C= (p.Asp430=) c.1242C= (p.Asp414=) c.1167C= (p.Asp389=) c.1110C= (p.Asp370=) | |
| 3 | g.30672398C>G | CA351808776 | TGFBR2 | c.1215C>G (p.Asp405Glu) n.2811C>G c.1290C>G (p.Asp430Glu) c.1242C>G (p.Asp414Glu) c.1167C>G (p.Asp389Glu) c.1110C>G (p.Asp370Glu) | ClinVar dbSNP |
| 3 | g.30672398C>T | CA432917649 | TGFBR2 | c.1215C>T (p.Asp405=) n.2811C>T c.1290C>T (p.Asp430=) c.1242C>T (p.Asp414=) c.1167C>T (p.Asp389=) c.1110C>T (p.Asp370=) | |
| 3 | g.30672399C>A | CA351808778 | TGFBR2 | c.1216C>A (p.Pro406Thr) n.2812C>A c.1291C>A (p.Pro431Thr) c.1243C>A (p.Pro415Thr) c.1168C>A (p.Pro390Thr) c.1111C>A (p.Pro371Thr) | |
| 3 | g.30672399C>G | CA351808779 | TGFBR2 | c.1216C>G (p.Pro406Ala) n.2812C>G c.1291C>G (p.Pro431Ala) c.1243C>G (p.Pro415Ala) c.1168C>G (p.Pro390Ala) c.1111C>G (p.Pro371Ala) | |
| 3 | g.30672399C>T | CA351808777 | TGFBR2 | c.1216C>T (p.Pro406Ser) n.2812C>T c.1291C>T (p.Pro431Ser) c.1243C>T (p.Pro415Ser) c.1168C>T (p.Pro390Ser) c.1111C>T (p.Pro371Ser) | |
| 3 | g.30672400C>A | CA351808780 | TGFBR2 | c.1217C>A (p.Pro406His) n.2813C>A c.1292C>A (p.Pro431His) c.1244C>A (p.Pro415His) c.1169C>A (p.Pro390His) c.1112C>A (p.Pro371His) | dbSNP |
| 3 | g.30672400C= | CA1354873275 | TGFBR2 | c.1217C= (p.Pro406=) n.2813C= c.1292C= (p.Pro431=) c.1244C= (p.Pro415=) c.1169C= (p.Pro390=) c.1112C= (p.Pro371=) | |
| 3 | g.30672400C>G | CA351808781 | TGFBR2 | c.1217C>G (p.Pro406Arg) n.2813C>G c.1292C>G (p.Pro431Arg) c.1244C>G (p.Pro415Arg) c.1169C>G (p.Pro390Arg) c.1112C>G (p.Pro371Arg) | |
| 3 | g.30672400C>T | CA045946 | TGFBR2 | c.1217C>T (p.Pro406Leu) n.2813C>T c.1292C>T (p.Pro431Leu) c.1244C>T (p.Pro415Leu) c.1169C>T (p.Pro390Leu) c.1112C>T (p.Pro371Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672401T>A | CA432917652 | TGFBR2 | c.1218T>A (p.Pro406=) n.2814T>A c.1293T>A (p.Pro431=) c.1245T>A (p.Pro415=) c.1170T>A (p.Pro390=) c.1113T>A (p.Pro371=) | dbSNP |
| 3 | g.30672401T>C | CA432917650 | TGFBR2 | c.1218T>C (p.Pro406=) n.2814T>C c.1293T>C (p.Pro431=) c.1245T>C (p.Pro415=) c.1170T>C (p.Pro390=) c.1113T>C (p.Pro371=) | ClinVar dbSNP |
| 3 | g.30672401T>G | CA432917651 | TGFBR2 | c.1218T>G (p.Pro406=) n.2814T>G c.1293T>G (p.Pro431=) c.1245T>G (p.Pro415=) c.1170T>G (p.Pro390=) c.1113T>G (p.Pro371=) | |
| 3 | g.30672401dup | CA2664867669 | TGFBR2 | c.1218dup (p.Thr407TyrfsTer6) n.2814dup c.1293dup (p.Thr432TyrfsTer6) c.1245dup (p.Thr416TyrfsTer6) c.1170dup (p.Thr391TyrfsTer6) c.1113dup (p.Thr372TyrfsTer6) | gnomAD v4 |
| 3 | g.30672402A= | CA1354873276 | TGFBR2 | c.1219A= (p.Thr407=) n.2815A= c.1294A= (p.Thr432=) c.1246A= (p.Thr416=) c.1171A= (p.Thr391=) c.1114A= (p.Thr372=) | |
| 3 | g.30672402A>C | CA351808782 | TGFBR2 | c.1219A>C (p.Thr407Pro) n.2815A>C c.1294A>C (p.Thr432Pro) c.1246A>C (p.Thr416Pro) c.1171A>C (p.Thr391Pro) c.1114A>C (p.Thr372Pro) | dbSNP |
| 3 | g.30672402A>G | CA351808784 | TGFBR2 | c.1219A>G (p.Thr407Ala) n.2815A>G c.1294A>G (p.Thr432Ala) c.1246A>G (p.Thr416Ala) c.1171A>G (p.Thr391Ala) c.1114A>G (p.Thr372Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672402A>T | CA351808783 | TGFBR2 | c.1219A>T (p.Thr407Ser) n.2815A>T c.1294A>T (p.Thr432Ser) c.1246A>T (p.Thr416Ser) c.1171A>T (p.Thr391Ser) c.1114A>T (p.Thr372Ser) | ClinVar dbSNP |
| 3 | g.30672403C>A | CA351808785 | TGFBR2 | c.1220C>A (p.Thr407Asn) n.2816C>A c.1295C>A (p.Thr432Asn) c.1247C>A (p.Thr416Asn) c.1172C>A (p.Thr391Asn) c.1115C>A (p.Thr372Asn) | dbSNP |
| 3 | g.30672403C= | CA1354873277 | TGFBR2 | c.1220C= (p.Thr407=) n.2816C= c.1295C= (p.Thr432=) c.1247C= (p.Thr416=) c.1172C= (p.Thr391=) c.1115C= (p.Thr372=) | |
| 3 | g.30672403C>G | CA351808786 | TGFBR2 | c.1220C>G (p.Thr407Ser) n.2816C>G c.1295C>G (p.Thr432Ser) c.1247C>G (p.Thr416Ser) c.1172C>G (p.Thr391Ser) c.1115C>G (p.Thr372Ser) | dbSNP |
| 3 | g.30672403C>T | CA71529046 | TGFBR2 | c.1220C>T (p.Thr407Ile) n.2816C>T c.1295C>T (p.Thr432Ile) c.1247C>T (p.Thr416Ile) c.1172C>T (p.Thr391Ile) c.1115C>T (p.Thr372Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672403_30672407delinsCTCTG | CA1354873278 | TGFBR2 | c.1220_1224delinsCTCTG (p.Thr407=) n.2816_2820delinsCTCTG c.1295_1299delinsCTCTG (p.Thr432=) c.1247_1251delinsCTCTG (p.Thr416=) c.1172_1176delinsCTCTG (p.Thr391=) c.1115_1119delinsCTCTG (p.Thr372=) | |
| 3 | g.30672404T>A | CA432917653 | TGFBR2 | c.1221T>A (p.Thr407=) n.2817T>A c.1296T>A (p.Thr432=) c.1248T>A (p.Thr416=) c.1173T>A (p.Thr391=) c.1116T>A (p.Thr372=) | dbSNP |
| 3 | g.30672404T>C | CA432917654 | TGFBR2 | c.1221T>C (p.Thr407=) n.2817T>C c.1296T>C (p.Thr432=) c.1248T>C (p.Thr416=) c.1173T>C (p.Thr391=) c.1116T>C (p.Thr372=) | dbSNP |
| 3 | g.30672404T>G | CA432917655 | TGFBR2 | c.1221T>G (p.Thr407=) n.2817T>G c.1296T>G (p.Thr432=) c.1248T>G (p.Thr416=) c.1173T>G (p.Thr391=) c.1116T>G (p.Thr372=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672409_30672412del | CA1139656096 | TGFBR2 | c.1226_1229del (p.Ser409TrpfsTer21) n.2822_2825del c.1301_1304del (p.Ser434TrpfsTer21) c.1253_1256del (p.Ser418TrpfsTer21) c.1178_1181del (p.Ser393TrpfsTer21) c.1121_1124del (p.Ser374TrpfsTer21) | ClinVar dbSNP |
| 3 | g.30672405C>A | CA045964 | TGFBR2 | c.1222C>A (p.Leu408Met) n.2818C>A c.1297C>A (p.Leu433Met) c.1249C>A (p.Leu417Met) c.1174C>A (p.Leu392Met) c.1117C>A (p.Leu373Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672405C= | CA1354873279 | TGFBR2 | c.1222C= (p.Leu408=) n.2818C= c.1297C= (p.Leu433=) c.1249C= (p.Leu417=) c.1174C= (p.Leu392=) c.1117C= (p.Leu373=) | |
| 3 | g.30672405C>G | CA351808787 | TGFBR2 | c.1222C>G (p.Leu408Val) n.2818C>G c.1297C>G (p.Leu433Val) c.1249C>G (p.Leu417Val) c.1174C>G (p.Leu392Val) c.1117C>G (p.Leu373Val) | dbSNP |
| 3 | g.30672405C>T | CA432917656 | TGFBR2 | c.1222C>T (p.Leu408=) n.2818C>T c.1297C>T (p.Leu433=) c.1249C>T (p.Leu417=) c.1174C>T (p.Leu392=) c.1117C>T (p.Leu373=) | |
| 3 | g.30672406T>A | CA351808790 | TGFBR2 | c.1223T>A (p.Leu408Gln) n.2819T>A c.1298T>A (p.Leu433Gln) c.1250T>A (p.Leu417Gln) c.1175T>A (p.Leu392Gln) c.1118T>A (p.Leu373Gln) | |
| 3 | g.30672406T>C | CA351808789 | TGFBR2 | c.1223T>C (p.Leu408Pro) n.2819T>C c.1298T>C (p.Leu433Pro) c.1250T>C (p.Leu417Pro) c.1175T>C (p.Leu392Pro) c.1118T>C (p.Leu373Pro) | |
| 3 | g.30672406T>G | CA351808788 | TGFBR2 | c.1223T>G (p.Leu408Arg) n.2819T>G c.1298T>G (p.Leu433Arg) c.1250T>G (p.Leu417Arg) c.1175T>G (p.Leu392Arg) c.1118T>G (p.Leu373Arg) | |
| 3 | g.30672407G>A | CA432917657 | TGFBR2 | c.1224G>A (p.Leu408=) n.2820G>A c.1299G>A (p.Leu433=) c.1251G>A (p.Leu417=) c.1176G>A (p.Leu392=) c.1119G>A (p.Leu373=) | gnomAD v4 |
| 3 | g.30672407G>C | CA432917658 | TGFBR2 | c.1224G>C (p.Leu408=) n.2820G>C c.1299G>C (p.Leu433=) c.1251G>C (p.Leu417=) c.1176G>C (p.Leu392=) c.1119G>C (p.Leu373=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30672407G= | CA1354873280 | TGFBR2 | c.1224G= (p.Leu408=) n.2820G= c.1299G= (p.Leu433=) c.1251G= (p.Leu417=) c.1176G= (p.Leu392=) c.1119G= (p.Leu373=) | |
| 3 | g.30672407G>T | CA432917659 | TGFBR2 | c.1224G>T (p.Leu408=) n.2820G>T c.1299G>T (p.Leu433=) c.1251G>T (p.Leu417=) c.1176G>T (p.Leu392=) c.1119G>T (p.Leu373=) | ClinVar gnomAD v4 |
| 3 | g.30672408T>A | CA351808791 | TGFBR2 | c.1225T>A (p.Ser409Thr) n.2821T>A c.1300T>A (p.Ser434Thr) c.1252T>A (p.Ser418Thr) c.1177T>A (p.Ser393Thr) c.1120T>A (p.Ser374Thr) | dbSNP |
| 3 | g.30672408T>C | CA351808792 | TGFBR2 | c.1225T>C (p.Ser409Pro) n.2821T>C c.1300T>C (p.Ser434Pro) c.1252T>C (p.Ser418Pro) c.1177T>C (p.Ser393Pro) c.1120T>C (p.Ser374Pro) | ClinVar dbSNP |
| 3 | g.30672408T>G | CA351808793 | TGFBR2 | c.1225T>G (p.Ser409Ala) n.2821T>G c.1300T>G (p.Ser434Ala) c.1252T>G (p.Ser418Ala) c.1177T>G (p.Ser393Ala) c.1120T>G (p.Ser374Ala) | |
| 3 | g.30672408T= | CA1354873281 | TGFBR2 | c.1225T= (p.Ser409=) n.2821T= c.1300T= (p.Ser434=) c.1252T= (p.Ser418=) c.1177T= (p.Ser393=) c.1120T= (p.Ser374=) | |
| 3 | g.30672409C>A | CA351808794 | TGFBR2 | c.1226C>A (p.Ser409Tyr) n.2822C>A c.1301C>A (p.Ser434Tyr) c.1253C>A (p.Ser418Tyr) c.1178C>A (p.Ser393Tyr) c.1121C>A (p.Ser374Tyr) | dbSNP |
| 3 | g.30672409C= | CA1354873282 | TGFBR2 | c.1226C= (p.Ser409=) n.2822C= c.1301C= (p.Ser434=) c.1253C= (p.Ser418=) c.1178C= (p.Ser393=) c.1121C= (p.Ser374=) | |
| 3 | g.30672409C>G | CA351808795 | TGFBR2 | c.1226C>G (p.Ser409Cys) n.2822C>G c.1301C>G (p.Ser434Cys) c.1253C>G (p.Ser418Cys) c.1178C>G (p.Ser393Cys) c.1121C>G (p.Ser374Cys) | dbSNP |
| 3 | g.30672409C>T | CA351808796 | TGFBR2 | c.1226C>T (p.Ser409Phe) n.2822C>T c.1301C>T (p.Ser434Phe) c.1253C>T (p.Ser418Phe) c.1178C>T (p.Ser393Phe) c.1121C>T (p.Ser374Phe) | ClinVar dbSNP |
| 3 | g.30672410T>A | CA432917661 | TGFBR2 | c.1227T>A (p.Ser409=) n.2823T>A c.1302T>A (p.Ser434=) c.1254T>A (p.Ser418=) c.1179T>A (p.Ser393=) c.1122T>A (p.Ser374=) | dbSNP |
| 3 | g.30672410T>C | CA432917662 | TGFBR2 | c.1227T>C (p.Ser409=) n.2823T>C c.1302T>C (p.Ser434=) c.1254T>C (p.Ser418=) c.1179T>C (p.Ser393=) c.1122T>C (p.Ser374=) | |
| 3 | g.30672410T>G | CA432917663 | TGFBR2 | c.1227T>G (p.Ser409=) n.2823T>G c.1302T>G (p.Ser434=) c.1254T>G (p.Ser418=) c.1179T>G (p.Ser393=) c.1122T>G (p.Ser374=) | |
| 3 | g.30672411G>A | CA351808797 | TGFBR2 | c.1228G>A (p.Val410Met) n.2824G>A c.1303G>A (p.Val435Met) c.1255G>A (p.Val419Met) c.1180G>A (p.Val394Met) c.1123G>A (p.Val375Met) | ClinVar dbSNP |
| 3 | g.30672411G>C | CA351808799 | TGFBR2 | c.1228G>C (p.Val410Leu) n.2824G>C c.1303G>C (p.Val435Leu) c.1255G>C (p.Val419Leu) c.1180G>C (p.Val394Leu) c.1123G>C (p.Val375Leu) | |
| 3 | g.30672411G>T | CA351808798 | TGFBR2 | c.1228G>T (p.Val410Leu) n.2824G>T c.1303G>T (p.Val435Leu) c.1255G>T (p.Val419Leu) c.1180G>T (p.Val394Leu) c.1123G>T (p.Val375Leu) | |
| 3 | g.30672412T>A | CA351808800 | TGFBR2 | c.1229T>A (p.Val410Glu) n.2825T>A c.1304T>A (p.Val435Glu) c.1256T>A (p.Val419Glu) c.1181T>A (p.Val394Glu) c.1124T>A (p.Val375Glu) | |
| 3 | g.30672412T>C | CA351808801 | TGFBR2 | c.1229T>C (p.Val410Ala) n.2825T>C c.1304T>C (p.Val435Ala) c.1256T>C (p.Val419Ala) c.1181T>C (p.Val394Ala) c.1124T>C (p.Val375Ala) | ClinVar |
| 3 | g.30672412T>G | CA351808802 | TGFBR2 | c.1229T>G (p.Val410Gly) n.2825T>G c.1304T>G (p.Val435Gly) c.1256T>G (p.Val419Gly) c.1181T>G (p.Val394Gly) c.1124T>G (p.Val375Gly) | |
| 3 | g.30672413G>A | CA432917664 | TGFBR2 | c.1230G>A (p.Val410=) n.2826G>A c.1305G>A (p.Val435=) c.1257G>A (p.Val419=) c.1182G>A (p.Val394=) c.1125G>A (p.Val375=) | dbSNP |
| 3 | g.30672413G>C | CA432917665 | TGFBR2 | c.1230G>C (p.Val410=) n.2826G>C c.1305G>C (p.Val435=) c.1257G>C (p.Val419=) c.1182G>C (p.Val394=) c.1125G>C (p.Val375=) | |
| 3 | g.30672413G>T | CA432917666 | TGFBR2 | c.1230G>T (p.Val410=) n.2826G>T c.1305G>T (p.Val435=) c.1257G>T (p.Val419=) c.1182G>T (p.Val394=) c.1125G>T (p.Val375=) | |
| 3 | g.30672414G>A | CA351808803 | TGFBR2 | c.1231G>A (p.Asp411Asn) n.2827G>A c.1306G>A (p.Asp436Asn) c.1258G>A (p.Asp420Asn) c.1183G>A (p.Asp395Asn) c.1126G>A (p.Asp376Asn) | ClinVar dbSNP |
| 3 | g.30672414G>C | CA351808804 | TGFBR2 | c.1231G>C (p.Asp411His) n.2827G>C c.1306G>C (p.Asp436His) c.1258G>C (p.Asp420His) c.1183G>C (p.Asp395His) c.1126G>C (p.Asp376His) | dbSNP |
| 3 | g.30672414G>T | CA351808805 | TGFBR2 | c.1231G>T (p.Asp411Tyr) n.2827G>T c.1306G>T (p.Asp436Tyr) c.1258G>T (p.Asp420Tyr) c.1183G>T (p.Asp395Tyr) c.1126G>T (p.Asp376Tyr) | dbSNP COSMIC |
| 3 | g.30672415A>C | CA351808806 | TGFBR2 | c.1232A>C (p.Asp411Ala) n.2828A>C c.1307A>C (p.Asp436Ala) c.1259A>C (p.Asp420Ala) c.1184A>C (p.Asp395Ala) c.1127A>C (p.Asp376Ala) | |
| 3 | g.30672415A>G | CA351808807 | TGFBR2 | c.1232A>G (p.Asp411Gly) n.2828A>G c.1307A>G (p.Asp436Gly) c.1259A>G (p.Asp420Gly) c.1184A>G (p.Asp395Gly) c.1127A>G (p.Asp376Gly) | |
| 3 | g.30672415A>T | CA351808808 | TGFBR2 | c.1232A>T (p.Asp411Val) n.2828A>T c.1307A>T (p.Asp436Val) c.1259A>T (p.Asp420Val) c.1184A>T (p.Asp395Val) c.1127A>T (p.Asp376Val) | gnomAD v4 |
| 3 | g.30672416T>A | CA351808809 | TGFBR2 | c.1233T>A (p.Asp411Glu) n.2829T>A c.1308T>A (p.Asp436Glu) c.1260T>A (p.Asp420Glu) c.1185T>A (p.Asp395Glu) c.1128T>A (p.Asp376Glu) | dbSNP gnomAD v4 |
| 3 | g.30672416T>C | CA432917667 | TGFBR2 | c.1233T>C (p.Asp411=) n.2829T>C c.1308T>C (p.Asp436=) c.1260T>C (p.Asp420=) c.1185T>C (p.Asp395=) c.1128T>C (p.Asp376=) | |
| 3 | g.30672416T>G | CA351808810 | TGFBR2 | c.1233T>G (p.Asp411Glu) n.2829T>G c.1308T>G (p.Asp436Glu) c.1260T>G (p.Asp420Glu) c.1185T>G (p.Asp395Glu) c.1128T>G (p.Asp376Glu) | |
| 3 | g.30672417G>A | CA351808811 | TGFBR2 | c.1234G>A (p.Asp412Asn) n.2830G>A c.1309G>A (p.Asp437Asn) c.1261G>A (p.Asp421Asn) c.1186G>A (p.Asp396Asn) c.1129G>A (p.Asp377Asn) | dbSNP |
| 3 | g.30672417G>C | CA351808813 | TGFBR2 | c.1234G>C (p.Asp412His) n.2830G>C c.1309G>C (p.Asp437His) c.1261G>C (p.Asp421His) c.1186G>C (p.Asp396His) c.1129G>C (p.Asp377His) | dbSNP COSMIC |
| 3 | g.30672417G>T | CA351808812 | TGFBR2 | c.1234G>T (p.Asp412Tyr) n.2830G>T c.1309G>T (p.Asp437Tyr) c.1261G>T (p.Asp421Tyr) c.1186G>T (p.Asp396Tyr) c.1129G>T (p.Asp377Tyr) | |
| 3 | g.30672418A>C | CA351808814 | TGFBR2 | c.1235A>C (p.Asp412Ala) n.2831A>C c.1310A>C (p.Asp437Ala) c.1262A>C (p.Asp421Ala) c.1187A>C (p.Asp396Ala) c.1130A>C (p.Asp377Ala) | dbSNP |
| 3 | g.30672418A>G | CA351808815 | TGFBR2 | c.1235A>G (p.Asp412Gly) n.2831A>G c.1310A>G (p.Asp437Gly) c.1262A>G (p.Asp421Gly) c.1187A>G (p.Asp396Gly) c.1130A>G (p.Asp377Gly) | dbSNP |
| 3 | g.30672418A>T | CA351808816 | TGFBR2 | c.1235A>T (p.Asp412Val) n.2831A>T c.1310A>T (p.Asp437Val) c.1262A>T (p.Asp421Val) c.1187A>T (p.Asp396Val) c.1130A>T (p.Asp377Val) | dbSNP |
| 3 | g.30672419C>A | CA351808817 | TGFBR2 | c.1236C>A (p.Asp412Glu) n.2832C>A c.1311C>A (p.Asp437Glu) c.1263C>A (p.Asp421Glu) c.1188C>A (p.Asp396Glu) c.1131C>A (p.Asp377Glu) | ClinVar dbSNP |
| 3 | g.30672419C= | CA1354873283 | TGFBR2 | c.1236C= (p.Asp412=) n.2832C= c.1311C= (p.Asp437=) c.1263C= (p.Asp421=) c.1188C= (p.Asp396=) c.1131C= (p.Asp377=) | |
| 3 | g.30672419C>G | CA351808818 | TGFBR2 | c.1236C>G (p.Asp412Glu) n.2832C>G c.1311C>G (p.Asp437Glu) c.1263C>G (p.Asp421Glu) c.1188C>G (p.Asp396Glu) c.1131C>G (p.Asp377Glu) | dbSNP |
| 3 | g.30672419C>T | CA432917668 | TGFBR2 | c.1236C>T (p.Asp412=) n.2832C>T c.1311C>T (p.Asp437=) c.1263C>T (p.Asp421=) c.1188C>T (p.Asp396=) c.1131C>T (p.Asp377=) | |
| 3 | g.30672420C>A | CA351808819 | TGFBR2 | c.1237C>A (p.Leu413Met) n.2833C>A c.1312C>A (p.Leu438Met) c.1264C>A (p.Leu422Met) c.1189C>A (p.Leu397Met) c.1132C>A (p.Leu378Met) | dbSNP |
| 3 | g.30672420C>G | CA351808820 | TGFBR2 | c.1237C>G (p.Leu413Val) n.2833C>G c.1312C>G (p.Leu438Val) c.1264C>G (p.Leu422Val) c.1189C>G (p.Leu397Val) c.1132C>G (p.Leu378Val) | dbSNP |
| 3 | g.30672420C>T | CA432917669 | TGFBR2 | c.1237C>T (p.Leu413=) n.2833C>T c.1312C>T (p.Leu438=) c.1264C>T (p.Leu422=) c.1189C>T (p.Leu397=) c.1132C>T (p.Leu378=) | dbSNP |
| 3 | g.30672421T>A | CA351808821 | TGFBR2 | c.1238T>A (p.Leu413Gln) n.2834T>A c.1313T>A (p.Leu438Gln) c.1265T>A (p.Leu422Gln) c.1190T>A (p.Leu397Gln) c.1133T>A (p.Leu378Gln) | ClinVar dbSNP |
| 3 | g.30672421T>C | CA351808822 | TGFBR2 | c.1238T>C (p.Leu413Pro) n.2834T>C c.1313T>C (p.Leu438Pro) c.1265T>C (p.Leu422Pro) c.1190T>C (p.Leu397Pro) c.1133T>C (p.Leu378Pro) | dbSNP |
| 3 | g.30672421T>G | CA351808823 | TGFBR2 | c.1238T>G (p.Leu413Arg) n.2834T>G c.1313T>G (p.Leu438Arg) c.1265T>G (p.Leu422Arg) c.1190T>G (p.Leu397Arg) c.1133T>G (p.Leu378Arg) | ClinVar |
| 3 | g.30672421T= | CA1354873284 | TGFBR2 | c.1238T= (p.Leu413=) n.2834T= c.1313T= (p.Leu438=) c.1265T= (p.Leu422=) c.1190T= (p.Leu397=) c.1133T= (p.Leu378=) | |
| 3 | g.30672422G>A | CA432917670 | TGFBR2 | c.1239G>A (p.Leu413=) n.2835G>A c.1314G>A (p.Leu438=) c.1266G>A (p.Leu422=) c.1191G>A (p.Leu397=) c.1134G>A (p.Leu378=) | dbSNP |
| 3 | g.30672422G>C | CA432917671 | TGFBR2 | c.1239G>C (p.Leu413=) n.2835G>C c.1314G>C (p.Leu438=) c.1266G>C (p.Leu422=) c.1191G>C (p.Leu397=) c.1134G>C (p.Leu378=) | dbSNP |
| 3 | g.30672422G= | CA1354873285 | TGFBR2 | c.1239G= (p.Leu413=) n.2835G= c.1314G= (p.Leu438=) c.1266G= (p.Leu422=) c.1191G= (p.Leu397=) c.1134G= (p.Leu378=) | |
| 3 | g.30672422G>T | CA71529067 | TGFBR2 | c.1239G>T (p.Leu413=) n.2835G>T c.1314G>T (p.Leu438=) c.1266G>T (p.Leu422=) c.1191G>T (p.Leu397=) c.1134G>T (p.Leu378=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672424_30672438del | CA2825001219 | TGFBR2 | c.1241_1254+1del n.2837_2850+1del c.1316_1329+1del c.1268_1281+1del c.1193_1206+1del c.1136_1149+1del | ClinVar |
| 3 | g.30672423G>A | CA351808826 | TGFBR2 | c.1240G>A (p.Ala414Thr) n.2836G>A c.1315G>A (p.Ala439Thr) c.1267G>A (p.Ala423Thr) c.1192G>A (p.Ala398Thr) c.1135G>A (p.Ala379Thr) | ClinVar dbSNP |
| 3 | g.30672423G>C | CA351808824 | TGFBR2 | c.1240G>C (p.Ala414Pro) n.2836G>C c.1315G>C (p.Ala439Pro) c.1267G>C (p.Ala423Pro) c.1192G>C (p.Ala398Pro) c.1135G>C (p.Ala379Pro) | ClinVar dbSNP |
| 3 | g.30672423G>T | CA351808825 | TGFBR2 | c.1240G>T (p.Ala414Ser) n.2836G>T c.1315G>T (p.Ala439Ser) c.1267G>T (p.Ala423Ser) c.1192G>T (p.Ala398Ser) c.1135G>T (p.Ala379Ser) | dbSNP |
| 3 | g.30672424C>A | CA351808827 | TGFBR2 | c.1241C>A (p.Ala414Asp) n.2837C>A c.1316C>A (p.Ala439Asp) c.1268C>A (p.Ala423Asp) c.1193C>A (p.Ala398Asp) c.1136C>A (p.Ala379Asp) | dbSNP |
| 3 | g.30672424C= | CA1354873286 | TGFBR2 | c.1241C= (p.Ala414=) n.2837C= c.1316C= (p.Ala439=) c.1268C= (p.Ala423=) c.1193C= (p.Ala398=) c.1136C= (p.Ala379=) | |
| 3 | g.30672424C>G | CA351808828 | TGFBR2 | c.1241C>G (p.Ala414Gly) n.2837C>G c.1316C>G (p.Ala439Gly) c.1268C>G (p.Ala423Gly) c.1193C>G (p.Ala398Gly) c.1136C>G (p.Ala379Gly) | dbSNP |
| 3 | g.30672424C>T | CA351808829 | TGFBR2 | c.1241C>T (p.Ala414Val) n.2837C>T c.1316C>T (p.Ala439Val) c.1268C>T (p.Ala423Val) c.1193C>T (p.Ala398Val) c.1136C>T (p.Ala379Val) | ClinVar dbSNP |
| 3 | g.30672425T>A | CA432917672 | TGFBR2 | c.1242T>A (p.Ala414=) n.2838T>A c.1317T>A (p.Ala439=) c.1269T>A (p.Ala423=) c.1194T>A (p.Ala398=) c.1137T>A (p.Ala379=) | dbSNP |
| 3 | g.30672425T>C | CA432917673 | TGFBR2 | c.1242T>C (p.Ala414=) n.2838T>C c.1317T>C (p.Ala439=) c.1269T>C (p.Ala423=) c.1194T>C (p.Ala398=) c.1137T>C (p.Ala379=) | |
| 3 | g.30672425T>G | CA432917674 | TGFBR2 | c.1242T>G (p.Ala414=) n.2838T>G c.1317T>G (p.Ala439=) c.1269T>G (p.Ala423=) c.1194T>G (p.Ala398=) c.1137T>G (p.Ala379=) | |
| 3 | g.30672426A>C | CA351808830 | TGFBR2 | c.1243A>C (p.Asn415His) n.2839A>C c.1318A>C (p.Asn440His) c.1270A>C (p.Asn424His) c.1195A>C (p.Asn399His) c.1138A>C (p.Asn380His) | dbSNP |
| 3 | g.30672426A>G | CA351808831 | TGFBR2 | c.1243A>G (p.Asn415Asp) n.2839A>G c.1318A>G (p.Asn440Asp) c.1270A>G (p.Asn424Asp) c.1195A>G (p.Asn399Asp) c.1138A>G (p.Asn380Asp) | ClinVar dbSNP |
| 3 | g.30672426A>T | CA351808832 | TGFBR2 | c.1243A>T (p.Asn415Tyr) n.2839A>T c.1318A>T (p.Asn440Tyr) c.1270A>T (p.Asn424Tyr) c.1195A>T (p.Asn399Tyr) c.1138A>T (p.Asn380Tyr) | dbSNP |
| 3 | g.30672427A>C | CA351808833 | TGFBR2 | c.1244A>C (p.Asn415Thr) n.2840A>C c.1319A>C (p.Asn440Thr) c.1271A>C (p.Asn424Thr) c.1196A>C (p.Asn399Thr) c.1139A>C (p.Asn380Thr) | dbSNP |
| 3 | g.30672427A>G | CA351808834 | TGFBR2 | c.1244A>G (p.Asn415Ser) n.2840A>G c.1319A>G (p.Asn440Ser) c.1271A>G (p.Asn424Ser) c.1196A>G (p.Asn399Ser) c.1139A>G (p.Asn380Ser) | dbSNP |
| 3 | g.30672427A>T | CA351808835 | TGFBR2 | c.1244A>T (p.Asn415Ile) n.2840A>T c.1319A>T (p.Asn440Ile) c.1271A>T (p.Asn424Ile) c.1196A>T (p.Asn399Ile) c.1139A>T (p.Asn380Ile) | dbSNP |
| 3 | g.30672428C>A | CA351808836 | TGFBR2 | c.1245C>A (p.Asn415Lys) n.2841C>A c.1320C>A (p.Asn440Lys) c.1272C>A (p.Asn424Lys) c.1197C>A (p.Asn399Lys) c.1140C>A (p.Asn380Lys) | |
| 3 | g.30672428C>G | CA351808837 | TGFBR2 | c.1245C>G (p.Asn415Lys) n.2841C>G c.1320C>G (p.Asn440Lys) c.1272C>G (p.Asn424Lys) c.1197C>G (p.Asn399Lys) c.1140C>G (p.Asn380Lys) | dbSNP |
| 3 | g.30672428C>T | CA432917675 | TGFBR2 | c.1245C>T (p.Asn415=) n.2841C>T c.1320C>T (p.Asn440=) c.1272C>T (p.Asn424=) c.1197C>T (p.Asn399=) c.1140C>T (p.Asn380=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.30672429del | CA2577536260 | TGFBR2 | c.1246del (p.Ser416ValfsTer15) n.2842del c.1321del (p.Ser441ValfsTer15) c.1273del (p.Ser425ValfsTer15) c.1198del (p.Ser400ValfsTer15) c.1141del (p.Ser381ValfsTer15) | |
| 3 | g.30672429A= | CA1354873287 | TGFBR2 | c.1246A= (p.Ser416=) n.2842A= c.1321A= (p.Ser441=) c.1273A= (p.Ser425=) c.1198A= (p.Ser400=) c.1141A= (p.Ser381=) | |
| 3 | g.30672429A>C | CA351808839 | TGFBR2 | c.1246A>C (p.Ser416Arg) n.2842A>C c.1321A>C (p.Ser441Arg) c.1273A>C (p.Ser425Arg) c.1198A>C (p.Ser400Arg) c.1141A>C (p.Ser381Arg) | |
| 3 | g.30672429A>G | CA16611396 | TGFBR2 | c.1246A>G (p.Ser416Gly) n.2842A>G c.1321A>G (p.Ser441Gly) c.1273A>G (p.Ser425Gly) c.1198A>G (p.Ser400Gly) c.1141A>G (p.Ser381Gly) | ClinVar dbSNP |
| 3 | g.30672429A>T | CA351808838 | TGFBR2 | c.1246A>T (p.Ser416Cys) n.2842A>T c.1321A>T (p.Ser441Cys) c.1273A>T (p.Ser425Cys) c.1198A>T (p.Ser400Cys) c.1141A>T (p.Ser381Cys) | ClinVar dbSNP |
| 3 | g.30672430G>A | CA351808842 | TGFBR2 | c.1247G>A (p.Ser416Asn) n.2843G>A c.1322G>A (p.Ser441Asn) c.1274G>A (p.Ser425Asn) c.1199G>A (p.Ser400Asn) c.1142G>A (p.Ser381Asn) | dbSNP |
| 3 | g.30672430G>C | CA351808840 | TGFBR2 | c.1247G>C (p.Ser416Thr) n.2843G>C c.1322G>C (p.Ser441Thr) c.1274G>C (p.Ser425Thr) c.1199G>C (p.Ser400Thr) c.1142G>C (p.Ser381Thr) | ClinVar dbSNP |
| 3 | g.30672430G>T | CA351808841 | TGFBR2 | c.1247G>T (p.Ser416Ile) n.2843G>T c.1322G>T (p.Ser441Ile) c.1274G>T (p.Ser425Ile) c.1199G>T (p.Ser400Ile) c.1142G>T (p.Ser381Ile) | |
| 3 | g.30672430dup | CA645535108 | TGFBR2 | c.1247dup (p.Ser416ArgfsTer25) n.2843dup c.1322dup (p.Ser441ArgfsTer25) c.1274dup (p.Ser425ArgfsTer25) c.1199dup (p.Ser400ArgfsTer25) c.1142dup (p.Ser381ArgfsTer25) | COSMIC |
| 3 | g.30672431T>A | CA351808843 | TGFBR2 | c.1248T>A (p.Ser416Arg) n.2844T>A c.1323T>A (p.Ser441Arg) c.1275T>A (p.Ser425Arg) c.1200T>A (p.Ser400Arg) c.1143T>A (p.Ser381Arg) | dbSNP |
| 3 | g.30672431T>C | CA432917676 | TGFBR2 | c.1248T>C (p.Ser416=) n.2844T>C c.1323T>C (p.Ser441=) c.1275T>C (p.Ser425=) c.1200T>C (p.Ser400=) c.1143T>C (p.Ser381=) | |
| 3 | g.30672431T>G | CA351808844 | TGFBR2 | c.1248T>G (p.Ser416Arg) n.2844T>G c.1323T>G (p.Ser441Arg) c.1275T>G (p.Ser425Arg) c.1200T>G (p.Ser400Arg) c.1143T>G (p.Ser381Arg) | dbSNP |
| 3 | g.30672432G>A | CA351808845 | TGFBR2 | c.1249G>A (p.Gly417Arg) n.2845G>A c.1324G>A (p.Gly442Arg) c.1276G>A (p.Gly426Arg) c.1201G>A (p.Gly401Arg) c.1144G>A (p.Gly382Arg) | dbSNP |
| 3 | g.30672432G>C | CA351808846 | TGFBR2 | c.1249G>C (p.Gly417Arg) n.2845G>C c.1324G>C (p.Gly442Arg) c.1276G>C (p.Gly426Arg) c.1201G>C (p.Gly401Arg) c.1144G>C (p.Gly382Arg) | |
| 3 | g.30672432G>T | CA351808847 | TGFBR2 | c.1249G>T (p.Gly417Trp) n.2845G>T c.1324G>T (p.Gly442Trp) c.1276G>T (p.Gly426Trp) c.1201G>T (p.Gly401Trp) c.1144G>T (p.Gly382Trp) | |
| 3 | g.30672434dup | CA432917677 | TGFBR2 | c.1251dup (p.Gln418AlafsTer23) n.2847dup c.1326dup (p.Gln443AlafsTer23) c.1278dup (p.Gln427AlafsTer23) c.1203dup (p.Gln402AlafsTer23) c.1146dup (p.Gln383AlafsTer23) | |
| 3 | g.30672433G>A | CA351808848 | TGFBR2 | c.1250G>A (p.Gly417Glu) n.2846G>A c.1325G>A (p.Gly442Glu) c.1277G>A (p.Gly426Glu) c.1202G>A (p.Gly401Glu) c.1145G>A (p.Gly382Glu) | dbSNP |
| 3 | g.30672433G>C | CA351808850 | TGFBR2 | c.1250G>C (p.Gly417Ala) n.2846G>C c.1325G>C (p.Gly442Ala) c.1277G>C (p.Gly426Ala) c.1202G>C (p.Gly401Ala) c.1145G>C (p.Gly382Ala) | |
| 3 | g.30672433G>T | CA351808849 | TGFBR2 | c.1250G>T (p.Gly417Val) n.2846G>T c.1325G>T (p.Gly442Val) c.1277G>T (p.Gly426Val) c.1202G>T (p.Gly401Val) c.1145G>T (p.Gly382Val) | dbSNP |
| 3 | g.30672434G>A | CA432917678 | TGFBR2 | c.1251G>A (p.Gly417=) n.2847G>A c.1326G>A (p.Gly442=) c.1278G>A (p.Gly426=) c.1203G>A (p.Gly401=) c.1146G>A (p.Gly382=) | ClinVar dbSNP |
| 3 | g.30672434G>C | CA045977 | TGFBR2 | c.1251G>C (p.Gly417=) n.2847G>C c.1326G>C (p.Gly442=) c.1278G>C (p.Gly426=) c.1203G>C (p.Gly401=) c.1146G>C (p.Gly382=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.30672434G= | CA1354873288 | TGFBR2 | c.1251G= (p.Gly417=) n.2847G= c.1326G= (p.Gly442=) c.1278G= (p.Gly426=) c.1203G= (p.Gly401=) c.1146G= (p.Gly382=) | |
| 3 | g.30672434G>T | CA432917679 | TGFBR2 | c.1251G>T (p.Gly417=) n.2847G>T c.1326G>T (p.Gly442=) c.1278G>T (p.Gly426=) c.1203G>T (p.Gly401=) c.1146G>T (p.Gly382=) | dbSNP |
| 3 | g.30672435C>A | CA351808851 | TGFBR2 | c.1252C>A (p.Gln418Lys) n.2848C>A c.1327C>A (p.Gln443Lys) c.1279C>A (p.Gln427Lys) c.1204C>A (p.Gln402Lys) c.1147C>A (p.Gln383Lys) | dbSNP |
| 3 | g.30672435C>G | CA351808852 | TGFBR2 | c.1252C>G (p.Gln418Glu) n.2848C>G c.1327C>G (p.Gln443Glu) c.1279C>G (p.Gln427Glu) c.1204C>G (p.Gln402Glu) c.1147C>G (p.Gln383Glu) | dbSNP |
| 3 | g.30672435C>T | CA351808853 | TGFBR2 | c.1252C>T (p.Gln418Ter) n.2848C>T c.1327C>T (p.Gln443Ter) c.1279C>T (p.Gln427Ter) c.1204C>T (p.Gln402Ter) c.1147C>T (p.Gln383Ter) | dbSNP |
| 3 | g.30672436A>C | CA351808854 | TGFBR2 | c.1253A>C (p.Gln418Pro) n.2849A>C c.1328A>C (p.Gln443Pro) c.1280A>C (p.Gln427Pro) c.1205A>C (p.Gln402Pro) c.1148A>C (p.Gln383Pro) | |
| 3 | g.30672436A>G | CA351808856 | TGFBR2 | c.1253A>G (p.Gln418Arg) n.2849A>G c.1328A>G (p.Gln443Arg) c.1280A>G (p.Gln427Arg) c.1205A>G (p.Gln402Arg) c.1148A>G (p.Gln383Arg) | gnomAD v4 |
| 3 | g.30672436A>T | CA351808855 | TGFBR2 | c.1253A>T (p.Gln418Leu) n.2849A>T c.1328A>T (p.Gln443Leu) c.1280A>T (p.Gln427Leu) c.1205A>T (p.Gln402Leu) c.1148A>T (p.Gln383Leu) | |
| 3 | g.30672437G>A | CA432917680 | TGFBR2 | c.1254G>A (p.Gln418=) n.2850G>A c.1329G>A (p.Gln443=) c.1281G>A (p.Gln427=) c.1206G>A (p.Gln402=) c.1149G>A (p.Gln383=) | |
| 3 | g.30672437G>C | CA351808857 | TGFBR2 | c.1254G>C (p.Gln418His) n.2850G>C c.1329G>C (p.Gln443His) c.1281G>C (p.Gln427His) c.1206G>C (p.Gln402His) c.1149G>C (p.Gln383His) | |
| 3 | g.30672437G>T | CA351808858 | TGFBR2 | c.1254G>T (p.Gln418His) n.2850G>T c.1329G>T (p.Gln443His) c.1281G>T (p.Gln427His) c.1206G>T (p.Gln402His) c.1149G>T (p.Gln383His) | |
| 3 | g.30672438G>A | CA351808859 | TGFBR2 | c.1254+1G>A (n.1254+1G>A) n.2850+1G>A c.1329+1G>A (n.1329+1G>A) c.1281+1G>A (n.1281+1G>A) c.1206+1G>A (n.1206+1G>A) c.1149+1G>A (n.1149+1G>A) | |
| 3 | g.30672438G>C | CA351808860 | TGFBR2 | c.1254+1G>C (n.1254+1G>C) n.2850+1G>C c.1329+1G>C (n.1329+1G>C) c.1281+1G>C (n.1281+1G>C) c.1206+1G>C (n.1206+1G>C) c.1149+1G>C (n.1149+1G>C) | |
| 3 | g.30672438G>T | CA351808861 | TGFBR2 | c.1254+1G>T (n.1254+1G>T) n.2850+1G>T c.1329+1G>T (n.1329+1G>T) c.1281+1G>T (n.1281+1G>T) c.1206+1G>T (n.1206+1G>T) c.1149+1G>T (n.1149+1G>T) | gnomAD v4 |
| 3 | g.30672439T>A | CA351808862 | TGFBR2 | c.1254+2T>A (n.1254+2T>A) n.2850+2T>A c.1329+2T>A (n.1329+2T>A) c.1281+2T>A (n.1281+2T>A) c.1206+2T>A (n.1206+2T>A) c.1149+2T>A (n.1149+2T>A) | dbSNP |
| 3 | g.30672439T>C | CA351808863 | TGFBR2 | c.1254+2T>C (n.1254+2T>C) n.2850+2T>C c.1329+2T>C (n.1329+2T>C) c.1281+2T>C (n.1281+2T>C) c.1206+2T>C (n.1206+2T>C) c.1149+2T>C (n.1149+2T>C) | dbSNP |
| 3 | g.30672439T>G | CA351808864 | TGFBR2 | c.1254+2T>G (n.1254+2T>G) n.2850+2T>G c.1329+2T>G (n.1329+2T>G) c.1281+2T>G (n.1281+2T>G) c.1206+2T>G (n.1206+2T>G) c.1149+2T>G (n.1149+2T>G) | ClinVar dbSNP |
| 3 | g.30672439_30672440insGGGAACTGC | CA2702373969 | TGFBR2 | c.1254+2_1254+3insGGGAACTGC (n.1254+2_1254+3insGGGAACTGC) n.2850+2_2850+3insGGGAACTGC c.1329+2_1329+3insGGGAACTGC (n.1329+2_1329+3insGGGAACTGC) c.1281+2_1281+3insGGGAACTGC (n.1281+2_1281+3insGGGAACTGC) c.1206+2_1206+3insGGGAACTGC (n.1206+2_1206+3insGGGAACTGC) c.1149+2_1149+3insGGGAACTGC (n.1149+2_1149+3insGGGAACTGC) | dbSNP |
| 3 | g.30672440A>C | CA2664867670 | TGFBR2 | c.1254+3A>C (n.1254+3A>C) n.2850+3A>C c.1329+3A>C (n.1329+3A>C) c.1281+3A>C (n.1281+3A>C) c.1206+3A>C (n.1206+3A>C) c.1149+3A>C (n.1149+3A>C) | gnomAD v4 |
| 3 | g.30672440A>T | CA2519232506 | TGFBR2 | c.1254+3A>T (n.1254+3A>T) n.2850+3A>T c.1329+3A>T (n.1329+3A>T) c.1281+3A>T (n.1281+3A>T) c.1206+3A>T (n.1206+3A>T) c.1149+3A>T (n.1149+3A>T) | |
| 3 | g.30672441A= | CA1354873289 | TGFBR2 | c.1254+4A= (n.1254+4A=) n.2850+4A= c.1329+4A= (n.1329+4A=) c.1281+4A= (n.1281+4A=) c.1206+4A= (n.1206+4A=) c.1149+4A= (n.1149+4A=) | |
| 3 | g.30672441A>T | CA1354873290 | TGFBR2 | c.1254+4A>T (n.1254+4A>T) n.2850+4A>T c.1329+4A>T (n.1329+4A>T) c.1281+4A>T (n.1281+4A>T) c.1206+4A>T (n.1206+4A>T) c.1149+4A>T (n.1149+4A>T) | dbSNP |
| 3 | g.30672442G>A | CA2580069265 | TGFBR2 | c.1254+5G>A (n.1254+5G>A) n.2850+5G>A c.1329+5G>A (n.1329+5G>A) c.1281+5G>A (n.1281+5G>A) c.1206+5G>A (n.1206+5G>A) c.1149+5G>A (n.1149+5G>A) | ClinVar |
| 3 | g.30672442_30672443insGTCGTTCTTCACGAGGA | CA2540151282 | TGFBR2 | c.1254+5_1254+6insGTCGTTCTTCACGAGGA (n.1254+5_1254+6insGTCGTTCTTCACGAGGA) n.2850+5_2850+6insGTCGTTCTTCACGAGGA c.1329+5_1329+6insGTCGTTCTTCACGAGGA (n.1329+5_1329+6insGTCGTTCTTCACGAGGA) c.1281+5_1281+6insGTCGTTCTTCACGAGGA (n.1281+5_1281+6insGTCGTTCTTCACGAGGA) c.1206+5_1206+6insGTCGTTCTTCACGAGGA (n.1206+5_1206+6insGTCGTTCTTCACGAGGA) c.1149+5_1149+6insGTCGTTCTTCACGAGGA (n.1149+5_1149+6insGTCGTTCTTCACGAGGA) | |
| 3 | g.30672443T>A | CA71529069 | TGFBR2 | c.1254+6T>A (n.1254+6T>A) n.2850+6T>A c.1329+6T>A (n.1329+6T>A) c.1281+6T>A (n.1281+6T>A) c.1206+6T>A (n.1206+6T>A) c.1149+6T>A (n.1149+6T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672443T= | CA1354873291 | TGFBR2 | c.1254+6T= (n.1254+6T=) n.2850+6T= c.1329+6T= (n.1329+6T=) c.1281+6T= (n.1281+6T=) c.1206+6T= (n.1206+6T=) c.1149+6T= (n.1149+6T=) | |
| 3 | g.30672445A= | CA1354873292 | TGFBR2 | c.1254+8A= (n.1254+8A=) n.2850+8A= c.1329+8A= (n.1329+8A=) c.1281+8A= (n.1281+8A=) c.1206+8A= (n.1206+8A=) c.1149+8A= (n.1149+8A=) | |
| 3 | g.30672445A>C | CA541975760 | TGFBR2 | c.1254+8A>C (n.1254+8A>C) n.2850+8A>C c.1329+8A>C (n.1329+8A>C) c.1281+8A>C (n.1281+8A>C) c.1206+8A>C (n.1206+8A>C) c.1149+8A>C (n.1149+8A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672445A>G | CA10586858 | TGFBR2 | c.1254+8A>G (n.1254+8A>G) n.2850+8A>G c.1329+8A>G (n.1329+8A>G) c.1281+8A>G (n.1281+8A>G) c.1206+8A>G (n.1206+8A>G) c.1149+8A>G (n.1149+8A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.30672446G>A | CA2702373971 | TGFBR2 | c.1254+9G>A (n.1254+9G>A) n.2850+9G>A c.1329+9G>A (n.1329+9G>A) c.1281+9G>A (n.1281+9G>A) c.1206+9G>A (n.1206+9G>A) c.1149+9G>A (n.1149+9G>A) | ClinVar dbSNP |
| 3 | g.30672446G>C | CA2664867671 | TGFBR2 | c.1254+9G>C (n.1254+9G>C) n.2850+9G>C c.1329+9G>C (n.1329+9G>C) c.1281+9G>C (n.1281+9G>C) c.1206+9G>C (n.1206+9G>C) c.1149+9G>C (n.1149+9G>C) | dbSNP gnomAD v4 |
| 3 | g.30672446G>T | CA2702373970 | TGFBR2 | c.1254+9G>T (n.1254+9G>T) n.2850+9G>T c.1329+9G>T (n.1329+9G>T) c.1281+9G>T (n.1281+9G>T) c.1206+9G>T (n.1206+9G>T) c.1149+9G>T (n.1149+9G>T) | ClinVar dbSNP |