| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916080G>A | CA6573066 | ACVRL1 | c.823G>A (p.Gly275Ser) c.1093G>A (p.Gly365Ser) c.571G>A (p.Gly191Ser) n.368G>A c.1135G>A (p.Gly379Ser) c.98G>A c.304G>A (p.Gly102Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51916080G>C | CA384902221 | ACVRL1 | c.823G>C (p.Gly275Arg) c.1093G>C (p.Gly365Arg) c.571G>C (p.Gly191Arg) n.368G>C c.1135G>C (p.Gly379Arg) c.98G>C c.304G>C (p.Gly102Arg) | |
| 12 | g.51916080G= | CA2036236795 | ACVRL1 | c.823G= (p.Gly275=) c.1093G= (p.Gly365=) c.571G= (p.Gly191=) n.368G= c.1135G= (p.Gly379=) c.98G= c.304G= (p.Gly102=) | |
| 12 | g.51916080G>T | CA384902228 | ACVRL1 | c.823G>T (p.Gly275Cys) c.1093G>T (p.Gly365Cys) c.571G>T (p.Gly191Cys) n.368G>T c.1135G>T (p.Gly379Cys) c.98G>T c.304G>T (p.Gly102Cys) | |
| 12 | g.51916081G>A | CA236364855 | ACVRL1 | c.824G>A (p.Gly275Asp) c.1094G>A (p.Gly365Asp) c.572G>A (p.Gly191Asp) n.369G>A c.1136G>A (p.Gly379Asp) c.99G>A c.305G>A (p.Gly102Asp) | dbSNP gnomAD v4 |
| 12 | g.51916081G>C | CA384902231 | ACVRL1 | c.824G>C (p.Gly275Ala) c.1094G>C (p.Gly365Ala) c.572G>C (p.Gly191Ala) n.369G>C c.1136G>C (p.Gly379Ala) c.99G>C c.305G>C (p.Gly102Ala) | |
| 12 | g.51916081G= | CA2036236800 | ACVRL1 | c.824G= (p.Gly275=) c.1094G= (p.Gly365=) c.572G= (p.Gly191=) n.369G= c.1136G= (p.Gly379=) c.99G= c.305G= (p.Gly102=) | |
| 12 | g.51916081G>T | CA384902233 | ACVRL1 | c.824G>T (p.Gly275Val) c.1094G>T (p.Gly365Val) c.572G>T (p.Gly191Val) n.369G>T c.1136G>T (p.Gly379Val) c.99G>T c.305G>T (p.Gly102Val) | |
| 12 | g.51916082C>A | CA479810327 | ACVRL1 | c.825C>A (p.Gly275=) c.1095C>A (p.Gly365=) c.573C>A (p.Gly191=) n.370C>A c.1137C>A (p.Gly379=) c.100C>A c.306C>A (p.Gly102=) | dbSNP |
| 12 | g.51916082C= | CA2036236802 | ACVRL1 | c.825C= (p.Gly275=) c.1095C= (p.Gly365=) c.573C= (p.Gly191=) n.370C= c.1137C= (p.Gly379=) c.100C= c.306C= (p.Gly102=) | |
| 12 | g.51916082C>G | CA479810328 | ACVRL1 | c.825C>G (p.Gly275=) c.1095C>G (p.Gly365=) c.573C>G (p.Gly191=) n.370C>G c.1137C>G (p.Gly379=) c.100C>G c.306C>G (p.Gly102=) | |
| 12 | g.51916082C>T | CA6573067 | ACVRL1 | c.825C>T (p.Gly275=) c.1095C>T (p.Gly365=) c.573C>T (p.Gly191=) n.370C>T c.1137C>T (p.Gly379=) c.100C>T c.306C>T (p.Gly102=) | ClinVar dbSNP ExAC gnomAD v2 |
| 12 | g.51916083A>C | CA384902240 | ACVRL1 | c.826A>C (p.Asn276His) c.1096A>C (p.Asn366His) c.574A>C (p.Asn192His) n.371A>C c.1138A>C (p.Asn380His) c.101A>C c.307A>C (p.Asn103His) | |
| 12 | g.51916083A>G | CA384902242 | ACVRL1 | c.826A>G (p.Asn276Asp) c.1096A>G (p.Asn366Asp) c.574A>G (p.Asn192Asp) n.371A>G c.1138A>G (p.Asn380Asp) c.101A>G c.307A>G (p.Asn103Asp) | |
| 12 | g.51916083A>T | CA384902244 | ACVRL1 | c.826A>T (p.Asn276Tyr) c.1096A>T (p.Asn366Tyr) c.574A>T (p.Asn192Tyr) n.371A>T c.1138A>T (p.Asn380Tyr) c.101A>T c.307A>T (p.Asn103Tyr) | |
| 12 | g.51916084A>C | CA384902246 | ACVRL1 | c.827A>C (p.Asn276Thr) c.1097A>C (p.Asn366Thr) c.575A>C (p.Asn192Thr) n.372A>C c.1139A>C (p.Asn380Thr) c.102A>C c.308A>C (p.Asn103Thr) | |
| 12 | g.51916084A>G | CA384902247 | ACVRL1 | c.827A>G (p.Asn276Ser) c.1097A>G (p.Asn366Ser) c.575A>G (p.Asn192Ser) n.372A>G c.1139A>G (p.Asn380Ser) c.102A>G c.308A>G (p.Asn103Ser) | |
| 12 | g.51916084A>T | CA384902248 | ACVRL1 | c.827A>T (p.Asn276Ile) c.1097A>T (p.Asn366Ile) c.575A>T (p.Asn192Ile) n.372A>T c.1139A>T (p.Asn380Ile) c.102A>T c.308A>T (p.Asn103Ile) | |
| 12 | g.51916085C>A | CA384902249 | ACVRL1 | c.828C>A (p.Asn276Lys) c.1098C>A (p.Asn366Lys) c.576C>A (p.Asn192Lys) n.373C>A c.1140C>A (p.Asn380Lys) c.103C>A c.309C>A (p.Asn103Lys) | gnomAD v4 |
| 12 | g.51916085C= | CA2036236806 | ACVRL1 | c.828C= (p.Asn276=) c.1098C= (p.Asn366=) c.576C= (p.Asn192=) n.373C= c.1140C= (p.Asn380=) c.103C= c.309C= (p.Asn103=) | |
| 12 | g.51916085C>G | CA384902252 | ACVRL1 | c.828C>G (p.Asn276Lys) c.1098C>G (p.Asn366Lys) c.576C>G (p.Asn192Lys) n.373C>G c.1140C>G (p.Asn380Lys) c.103C>G c.309C>G (p.Asn103Lys) | |
| 12 | g.51916085C>T | CA6573068 | ACVRL1 | c.828C>T (p.Asn276=) c.1098C>T (p.Asn366=) c.576C>T (p.Asn192=) n.373C>T c.1140C>T (p.Asn380=) c.103C>T c.309C>T (p.Asn103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916086A>C | CA384902254 | ACVRL1 | c.829A>C (p.Asn277His) c.1099A>C (p.Asn367His) c.577A>C (p.Asn193His) n.374A>C c.1141A>C (p.Asn381His) c.104A>C c.310A>C (p.Asn104His) | |
| 12 | g.51916086A>G | CA384902256 | ACVRL1 | c.829A>G (p.Asn277Asp) c.1099A>G (p.Asn367Asp) c.577A>G (p.Asn193Asp) n.374A>G c.1141A>G (p.Asn381Asp) c.104A>G c.310A>G (p.Asn104Asp) | |
| 12 | g.51916086A>T | CA384902263 | ACVRL1 | c.829A>T (p.Asn277Tyr) c.1099A>T (p.Asn367Tyr) c.577A>T (p.Asn193Tyr) n.374A>T c.1141A>T (p.Asn381Tyr) c.104A>T c.310A>T (p.Asn104Tyr) | |
| 12 | g.51916087A>C | CA384902265 | ACVRL1 | c.830A>C (p.Asn277Thr) c.1100A>C (p.Asn367Thr) c.578A>C (p.Asn193Thr) n.375A>C c.1142A>C (p.Asn381Thr) c.105A>C c.311A>C (p.Asn104Thr) | |
| 12 | g.51916087A>G | CA384902268 | ACVRL1 | c.830A>G (p.Asn277Ser) c.1100A>G (p.Asn367Ser) c.578A>G (p.Asn193Ser) n.375A>G c.1142A>G (p.Asn381Ser) c.105A>G c.311A>G (p.Asn104Ser) | |
| 12 | g.51916087A>T | CA384902274 | ACVRL1 | c.830A>T (p.Asn277Ile) c.1100A>T (p.Asn367Ile) c.578A>T (p.Asn193Ile) n.375A>T c.1142A>T (p.Asn381Ile) c.105A>T c.311A>T (p.Asn104Ile) | |
| 12 | g.51916088C>A | CA384902276 | ACVRL1 | c.831C>A (p.Asn277Lys) c.1101C>A (p.Asn367Lys) c.579C>A (p.Asn193Lys) n.376C>A c.1143C>A (p.Asn381Lys) c.106C>A c.312C>A (p.Asn104Lys) | |
| 12 | g.51916088C>G | CA384902278 | ACVRL1 | c.831C>G (p.Asn277Lys) c.1101C>G (p.Asn367Lys) c.579C>G (p.Asn193Lys) n.376C>G c.1143C>G (p.Asn381Lys) c.106C>G c.312C>G (p.Asn104Lys) | COSMIC COSMIC |
| 12 | g.51916088C>T | CA479810373 | ACVRL1 | c.831C>T (p.Asn277=) c.1101C>T (p.Asn367=) c.579C>T (p.Asn193=) n.376C>T c.1143C>T (p.Asn381=) c.106C>T c.312C>T (p.Asn104=) | |
| 12 | g.51916089C>A | CA384902279 | ACVRL1 | c.832C>A (p.Pro278Thr) c.1102C>A (p.Pro368Thr) c.580C>A (p.Pro194Thr) n.377C>A c.1144C>A (p.Pro382Thr) c.107C>A c.313C>A (p.Pro105Thr) | |
| 12 | g.51916089C= | CA2036236812 | ACVRL1 | c.832C= (p.Pro278=) c.1102C= (p.Pro368=) c.580C= (p.Pro194=) n.377C= c.1144C= (p.Pro382=) c.107C= c.313C= (p.Pro105=) | |
| 12 | g.51916089C>G | CA384902280 | ACVRL1 | c.832C>G (p.Pro278Ala) c.1102C>G (p.Pro368Ala) c.580C>G (p.Pro194Ala) n.377C>G c.1144C>G (p.Pro382Ala) c.107C>G c.313C>G (p.Pro105Ala) | |
| 12 | g.51916089C>T | CA384902285 | ACVRL1 | c.832C>T (p.Pro278Ser) c.1102C>T (p.Pro368Ser) c.580C>T (p.Pro194Ser) n.377C>T c.1144C>T (p.Pro382Ser) c.107C>T c.313C>T (p.Pro105Ser) | dbSNP gnomAD v4 |
| 12 | g.51916090C>A | CA384902288 | ACVRL1 | c.833C>A (p.Pro278Gln) c.1103C>A (p.Pro368Gln) c.581C>A (p.Pro194Gln) n.378C>A c.1145C>A (p.Pro382Gln) c.108C>A c.314C>A (p.Pro105Gln) | dbSNP gnomAD v2 |
| 12 | g.51916090C= | CA2036236817 | ACVRL1 | c.833C= (p.Pro278=) c.1103C= (p.Pro368=) c.581C= (p.Pro194=) n.378C= c.1145C= (p.Pro382=) c.108C= c.314C= (p.Pro105=) | |
| 12 | g.51916090C>G | CA384902290 | ACVRL1 | c.833C>G (p.Pro278Arg) c.1103C>G (p.Pro368Arg) c.581C>G (p.Pro194Arg) n.378C>G c.1145C>G (p.Pro382Arg) c.108C>G c.314C>G (p.Pro105Arg) | |
| 12 | g.51916090C>T | CA6573069 | ACVRL1 | c.833C>T (p.Pro278Leu) c.1103C>T (p.Pro368Leu) c.581C>T (p.Pro194Leu) n.378C>T c.1145C>T (p.Pro382Leu) c.108C>T c.314C>T (p.Pro105Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916091G>A | CA6573070 | ACVRL1 | c.834G>A (p.Pro278=) c.1104G>A (p.Pro368=) c.582G>A (p.Pro194=) n.379G>A c.1146G>A (p.Pro382=) c.109G>A c.315G>A (p.Pro105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916091G>C | CA479810394 | ACVRL1 | c.834G>C (p.Pro278=) c.1104G>C (p.Pro368=) c.582G>C (p.Pro194=) n.379G>C c.1146G>C (p.Pro382=) c.109G>C c.315G>C (p.Pro105=) | |
| 12 | g.51916091G= | CA2036236824 | ACVRL1 | c.834G= (p.Pro278=) c.1104G= (p.Pro368=) c.582G= (p.Pro194=) n.379G= c.1146G= (p.Pro382=) c.109G= c.315G= (p.Pro105=) | |
| 12 | g.51916091G>T | CA479810395 | ACVRL1 | c.834G>T (p.Pro278=) c.1104G>T (p.Pro368=) c.582G>T (p.Pro194=) n.379G>T c.1146G>T (p.Pro382=) c.109G>T c.315G>T (p.Pro105=) | |
| 12 | g.51916094_51916095del | CA2695216672 | ACVRL1 | c.837_838del (p.Arg279SerfsTer22) c.1107_1108del (p.Arg369SerfsTer22) c.585_586del (p.Arg195SerfsTer22) n.382_383del c.1149_1150del (p.Arg383SerfsTer22) c.112_113del c.318_319del (p.Arg106SerfsTer22) | |
| 12 | g.51916092A>C | CA479810399 | ACVRL1 | c.835A>C (p.Arg279=) c.1105A>C (p.Arg369=) c.583A>C (p.Arg195=) n.380A>C c.1147A>C (p.Arg383=) c.110A>C c.316A>C (p.Arg106=) | |
| 12 | g.51916092A>G | CA384902294 | ACVRL1 | c.835A>G (p.Arg279Gly) c.1105A>G (p.Arg369Gly) c.583A>G (p.Arg195Gly) n.380A>G c.1147A>G (p.Arg383Gly) c.110A>G c.316A>G (p.Arg106Gly) | COSMIC COSMIC |
| 12 | g.51916092A>T | CA384902297 | ACVRL1 | c.835A>T (p.Arg279Ter) c.1105A>T (p.Arg369Ter) c.583A>T (p.Arg195Ter) n.380A>T c.1147A>T (p.Arg383Ter) c.110A>T c.316A>T (p.Arg106Ter) | |
| 12 | g.51916093G>A | CA384902311 | ACVRL1 | c.836G>A (p.Arg279Lys) c.1106G>A (p.Arg369Lys) c.584G>A (p.Arg195Lys) n.381G>A c.1148G>A (p.Arg383Lys) c.111G>A c.317G>A (p.Arg106Lys) | |
| 12 | g.51916093G>C | CA384902313 | ACVRL1 | c.836G>C (p.Arg279Thr) c.1106G>C (p.Arg369Thr) c.584G>C (p.Arg195Thr) n.381G>C c.1148G>C (p.Arg383Thr) c.111G>C c.317G>C (p.Arg106Thr) | |
| 12 | g.51916093G>T | CA384902315 | ACVRL1 | c.836G>T (p.Arg279Ile) c.1106G>T (p.Arg369Ile) c.584G>T (p.Arg195Ile) n.381G>T c.1148G>T (p.Arg383Ile) c.111G>T c.317G>T (p.Arg106Ile) |