Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
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 |