| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916110_51916148dup | CA2580086498 | ACVRL1 | c.853_891dup (p.Thr297_Asp298insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) c.1123_1161dup (p.Thr387_Asp388insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) c.601_639dup (p.Thr213_Asp214insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) n.398_436dup c.1165_1203dup (p.Thr401_Asp402insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) c.128_166dup c.334_372dup (p.Thr124_Asp125insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) | ClinVar |
| 12 | g.51916140_51916144dup | CA916081671 | ACVRL1 | c.883_887dup (p.Thr297SerfsTer30) c.1153_1157dup (p.Thr387SerfsTer30) c.631_635dup (p.Thr213SerfsTer30) n.428_432dup c.1195_1199dup (p.Thr401SerfsTer30) c.158_162dup c.364_368dup (p.Thr124SerfsTer30) | ClinVar dbSNP |
| 12 | g.51916142C>A | CA479810895 | ACVRL1 | c.885C>A (p.Ile295=) c.1155C>A (p.Ile385=) c.633C>A (p.Ile211=) n.430C>A c.1197C>A (p.Ile399=) c.160C>A c.366C>A (p.Ile122=) | |
| 12 | g.51916142C= | CA2036236992 | ACVRL1 | c.885C= (p.Ile295=) c.1155C= (p.Ile385=) c.633C= (p.Ile211=) n.430C= c.1197C= (p.Ile399=) c.160C= c.366C= (p.Ile122=) | |
| 12 | g.51916142C>G | CA384902644 | ACVRL1 | c.885C>G (p.Ile295Met) c.1155C>G (p.Ile385Met) c.633C>G (p.Ile211Met) n.430C>G c.1197C>G (p.Ile399Met) c.160C>G c.366C>G (p.Ile122Met) | |
| 12 | g.51916142C>T | CA479810899 | ACVRL1 | c.885C>T (p.Ile295=) c.1155C>T (p.Ile385=) c.633C>T (p.Ile211=) n.430C>T c.1197C>T (p.Ile399=) c.160C>T c.366C>T (p.Ile122=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.51916143C>A | CA384902650 | ACVRL1 | c.886C>A (p.Arg296Ser) c.1156C>A (p.Arg386Ser) c.634C>A (p.Arg212Ser) n.431C>A c.1198C>A (p.Arg400Ser) c.161C>A c.367C>A (p.Arg123Ser) | |
| 12 | g.51916143C= | CA2036236994 | ACVRL1 | c.886C= (p.Arg296=) c.1156C= (p.Arg386=) c.634C= (p.Arg212=) n.431C= c.1198C= (p.Arg400=) c.161C= c.367C= (p.Arg123=) | |
| 12 | g.51916143C>G | CA384902652 | ACVRL1 | c.886C>G (p.Arg296Gly) c.1156C>G (p.Arg386Gly) c.634C>G (p.Arg212Gly) n.431C>G c.1198C>G (p.Arg400Gly) c.161C>G c.367C>G (p.Arg123Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51916143C>T | CA384902654 | ACVRL1 | c.886C>T (p.Arg296Cys) c.1156C>T (p.Arg386Cys) c.634C>T (p.Arg212Cys) n.431C>T c.1198C>T (p.Arg400Cys) c.161C>T c.367C>T (p.Arg123Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.51916144G>A | CA211329 | ACVRL1 | c.887G>A (p.Arg296His) c.1157G>A (p.Arg386His) c.635G>A (p.Arg212His) n.432G>A c.1199G>A (p.Arg400His) c.162G>A c.368G>A (p.Arg123His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916144G>C | CA384902655 | ACVRL1 | c.887G>C (p.Arg296Pro) c.1157G>C (p.Arg386Pro) c.635G>C (p.Arg212Pro) n.432G>C c.1199G>C (p.Arg400Pro) c.162G>C c.368G>C (p.Arg123Pro) | |
| 12 | g.51916144G= | CA2036236998 | ACVRL1 | c.887G= (p.Arg296=) c.1157G= (p.Arg386=) c.635G= (p.Arg212=) n.432G= c.1199G= (p.Arg400=) c.162G= c.368G= (p.Arg123=) | |
| 12 | g.51916144G>T | CA384902657 | ACVRL1 | c.887G>T (p.Arg296Leu) c.1157G>T (p.Arg386Leu) c.635G>T (p.Arg212Leu) n.432G>T c.1199G>T (p.Arg400Leu) c.162G>T c.368G>T (p.Arg123Leu) | |
| 12 | g.51916145C>A | CA479810927 | ACVRL1 | c.888C>A (p.Arg296=) c.1158C>A (p.Arg386=) c.636C>A (p.Arg212=) n.433C>A c.1200C>A (p.Arg400=) c.163C>A c.369C>A (p.Arg123=) | |
| 12 | g.51916145C>G | CA479810924 | ACVRL1 | c.888C>G (p.Arg296=) c.1158C>G (p.Arg386=) c.636C>G (p.Arg212=) n.433C>G c.1200C>G (p.Arg400=) c.163C>G c.369C>G (p.Arg123=) | |
| 12 | g.51916145C>T | CA479810920 | ACVRL1 | c.888C>T (p.Arg296=) c.1158C>T (p.Arg386=) c.636C>T (p.Arg212=) n.433C>T c.1200C>T (p.Arg400=) c.163C>T c.369C>T (p.Arg123=) | gnomAD v4 |
| 12 | g.51916146A= | CA2036237000 | ACVRL1 | c.889A= (p.Thr297=) c.1159A= (p.Thr387=) c.637A= (p.Thr213=) n.434A= c.1201A= (p.Thr401=) c.164A= c.370A= (p.Thr124=) | |
| 12 | g.51916146A>C | CA384902662 | ACVRL1 | c.889A>C (p.Thr297Pro) c.1159A>C (p.Thr387Pro) c.637A>C (p.Thr213Pro) n.434A>C c.1201A>C (p.Thr401Pro) c.164A>C c.370A>C (p.Thr124Pro) | |
| 12 | g.51916146A>G | CA384902665 | ACVRL1 | c.889A>G (p.Thr297Ala) c.1159A>G (p.Thr387Ala) c.637A>G (p.Thr213Ala) n.434A>G c.1201A>G (p.Thr401Ala) c.164A>G c.370A>G (p.Thr124Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51916146A>T | CA384902667 | ACVRL1 | c.889A>T (p.Thr297Ser) c.1159A>T (p.Thr387Ser) c.637A>T (p.Thr213Ser) n.434A>T c.1201A>T (p.Thr401Ser) c.164A>T c.370A>T (p.Thr124Ser) | |
| 12 | g.51916147C>A | CA384902670 | ACVRL1 | c.890C>A (p.Thr297Lys) c.1160C>A (p.Thr387Lys) c.638C>A (p.Thr213Lys) n.435C>A c.1202C>A (p.Thr401Lys) c.165C>A c.371C>A (p.Thr124Lys) | |
| 12 | g.51916147C= | CA2036237002 | ACVRL1 | c.890C= (p.Thr297=) c.1160C= (p.Thr387=) c.638C= (p.Thr213=) n.435C= c.1202C= (p.Thr401=) c.165C= c.371C= (p.Thr124=) | |
| 12 | g.51916147C>G | CA384902673 | ACVRL1 | c.890C>G (p.Thr297Arg) c.1160C>G (p.Thr387Arg) c.638C>G (p.Thr213Arg) n.435C>G c.1202C>G (p.Thr401Arg) c.165C>G c.371C>G (p.Thr124Arg) | |
| 12 | g.51916147C>T | CA6573079 | ACVRL1 | c.890C>T (p.Thr297Met) c.1160C>T (p.Thr387Met) c.638C>T (p.Thr213Met) n.435C>T c.1202C>T (p.Thr401Met) c.165C>T c.371C>T (p.Thr124Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916148G>A | CA6573080 | ACVRL1 | c.891G>A (p.Thr297=) c.1161G>A (p.Thr387=) c.639G>A (p.Thr213=) n.436G>A c.1203G>A (p.Thr401=) c.166G>A c.372G>A (p.Thr124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916148G>C | CA479810957 | ACVRL1 | c.891G>C (p.Thr297=) c.1161G>C (p.Thr387=) c.639G>C (p.Thr213=) n.436G>C c.1203G>C (p.Thr401=) c.166G>C c.372G>C (p.Thr124=) | ClinVar gnomAD v4 |
| 12 | g.51916148G= | CA2036237006 | ACVRL1 | c.891G= (p.Thr297=) c.1161G= (p.Thr387=) c.639G= (p.Thr213=) n.436G= c.1203G= (p.Thr401=) c.166G= c.372G= (p.Thr124=) | |
| 12 | g.51916148G>T | CA479810953 | ACVRL1 | c.891G>T (p.Thr297=) c.1161G>T (p.Thr387=) c.639G>T (p.Thr213=) n.436G>T c.1203G>T (p.Thr401=) c.166G>T c.372G>T (p.Thr124=) | |
| 12 | g.51916149G>A | CA384902682 | ACVRL1 | c.892G>A (p.Asp298Asn) c.1162G>A (p.Asp388Asn) c.640G>A (p.Asp214Asn) n.437G>A c.1204G>A (p.Asp402Asn) c.167G>A c.373G>A (p.Asp125Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916149G>C | CA384902684 | ACVRL1 | c.892G>C (p.Asp298His) c.1162G>C (p.Asp388His) c.640G>C (p.Asp214His) n.437G>C c.1204G>C (p.Asp402His) c.167G>C c.373G>C (p.Asp125His) | |
| 12 | g.51916149G= | CA2036237010 | ACVRL1 | c.892G= (p.Asp298=) c.1162G= (p.Asp388=) c.640G= (p.Asp214=) n.437G= c.1204G= (p.Asp402=) c.167G= c.373G= (p.Asp125=) | |
| 12 | g.51916149G>T | CA384902687 | ACVRL1 | c.892G>T (p.Asp298Tyr) c.1162G>T (p.Asp388Tyr) c.640G>T (p.Asp214Tyr) n.437G>T c.1204G>T (p.Asp402Tyr) c.167G>T c.373G>T (p.Asp125Tyr) | |
| 12 | g.51916149_51916164delinsGACTGCTTTGAGTCCT | CA2036237009 | ACVRL1 | c.892_907delinsGACTGCTTTGAGTCCT (p.Asp298=) c.1162_1177delinsGACTGCTTTGAGTCCT (p.Asp388=) c.640_655delinsGACTGCTTTGAGTCCT (p.Asp214=) n.437_452delinsGACTGCTTTGAGTCCT c.1204_1219delinsGACTGCTTTGAGTCCT (p.Asp402=) c.167_182delinsGACTGCTTTGAGTCCT c.373_388delinsGACTGCTTTGAGTCCT (p.Asp125=) | |
| 12 | g.51916150A= | CA2036237015 | ACVRL1 | c.893A= (p.Asp298=) c.1163A= (p.Asp388=) c.641A= (p.Asp214=) n.438A= c.1205A= (p.Asp402=) c.168A= c.374A= (p.Asp125=) | |
| 12 | g.51916150A>C | CA384902695 | ACVRL1 | c.893A>C (p.Asp298Ala) c.1163A>C (p.Asp388Ala) c.641A>C (p.Asp214Ala) n.438A>C c.1205A>C (p.Asp402Ala) c.168A>C c.374A>C (p.Asp125Ala) | |
| 12 | g.51916150A>G | CA384902692 | ACVRL1 | c.893A>G (p.Asp298Gly) c.1163A>G (p.Asp388Gly) c.641A>G (p.Asp214Gly) n.438A>G c.1205A>G (p.Asp402Gly) c.168A>G c.374A>G (p.Asp125Gly) | ClinVar dbSNP |
| 12 | g.51916150A>T | CA384902690 | ACVRL1 | c.893A>T (p.Asp298Val) c.1163A>T (p.Asp388Val) c.641A>T (p.Asp214Val) n.438A>T c.1205A>T (p.Asp402Val) c.168A>T c.374A>T (p.Asp125Val) | |
| 12 | g.51916152_51916166del | CA916081672 | ACVRL1 | c.895_909del (p.Cys299_Tyr303del) c.1165_1179del (p.Cys389_Tyr393del) c.643_657del (p.Cys215_Tyr219del) n.440_454del c.1207_1221del (p.Cys403_Tyr407del) c.170_184del c.376_390del (p.Cys126_Tyr130del) | ClinVar dbSNP |
| 12 | g.51916151C>A | CA6573081 | ACVRL1 | c.894C>A (p.Asp298Glu) c.1164C>A (p.Asp388Glu) c.642C>A (p.Asp214Glu) n.439C>A c.1206C>A (p.Asp402Glu) c.169C>A c.375C>A (p.Asp125Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51916151C= | CA2036237019 | ACVRL1 | c.894C= (p.Asp298=) c.1164C= (p.Asp388=) c.642C= (p.Asp214=) n.439C= c.1206C= (p.Asp402=) c.169C= c.375C= (p.Asp125=) | |
| 12 | g.51916151C>G | CA384902696 | ACVRL1 | c.894C>G (p.Asp298Glu) c.1164C>G (p.Asp388Glu) c.642C>G (p.Asp214Glu) n.439C>G c.1206C>G (p.Asp402Glu) c.169C>G c.375C>G (p.Asp125Glu) | |
| 12 | g.51916151C>T | CA479811006 | ACVRL1 | c.894C>T (p.Asp298=) c.1164C>T (p.Asp388=) c.642C>T (p.Asp214=) n.439C>T c.1206C>T (p.Asp402=) c.169C>T c.375C>T (p.Asp125=) | |
| 12 | g.51916152T>A | CA384902697 | ACVRL1 | c.895T>A (p.Cys299Ser) c.1165T>A (p.Cys389Ser) c.643T>A (p.Cys215Ser) n.440T>A c.1207T>A (p.Cys403Ser) c.170T>A c.376T>A (p.Cys126Ser) | |
| 12 | g.51916152T>C | CA236364959 | ACVRL1 | c.895T>C (p.Cys299Arg) c.1165T>C (p.Cys389Arg) c.643T>C (p.Cys215Arg) n.440T>C c.1207T>C (p.Cys403Arg) c.170T>C c.376T>C (p.Cys126Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51916152T>G | CA384902700 | ACVRL1 | c.895T>G (p.Cys299Gly) c.1165T>G (p.Cys389Gly) c.643T>G (p.Cys215Gly) n.440T>G c.1207T>G (p.Cys403Gly) c.170T>G c.376T>G (p.Cys126Gly) | gnomAD v4 |
| 12 | g.51916152T= | CA2036237022 | ACVRL1 | c.895T= (p.Cys299=) c.1165T= (p.Cys389=) c.643T= (p.Cys215=) n.440T= c.1207T= (p.Cys403=) c.170T= c.376T= (p.Cys126=) | |
| 12 | g.51916153G>A | CA384902705 | ACVRL1 | c.896G>A (p.Cys299Tyr) c.1166G>A (p.Cys389Tyr) c.644G>A (p.Cys215Tyr) n.441G>A c.1208G>A (p.Cys403Tyr) c.171G>A c.377G>A (p.Cys126Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916153G>C | CA384902707 | ACVRL1 | c.896G>C (p.Cys299Ser) c.1166G>C (p.Cys389Ser) c.644G>C (p.Cys215Ser) n.441G>C c.1208G>C (p.Cys403Ser) c.171G>C c.377G>C (p.Cys126Ser) | |
| 12 | g.51916153G= | CA2036237024 | ACVRL1 | c.896G= (p.Cys299=) c.1166G= (p.Cys389=) c.644G= (p.Cys215=) n.441G= c.1208G= (p.Cys403=) c.171G= c.377G= (p.Cys126=) |