| 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) | |
| 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) | |
| 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) | |
| 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=) |