WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 12 | g.51916094A>C | CA384902317 | ACVRL1 | c.837A>C (p.Arg279Ser) c.1107A>C (p.Arg369Ser) c.585A>C (p.Arg195Ser) n.382A>C c.1149A>C (p.Arg383Ser) c.112A>C c.318A>C (p.Arg106Ser) | |
| 12 | g.51916094A>G | CA479810414 | ACVRL1 | c.837A>G (p.Arg279=) c.1107A>G (p.Arg369=) c.585A>G (p.Arg195=) n.382A>G c.1149A>G (p.Arg383=) c.112A>G c.318A>G (p.Arg106=) | |
| 12 | g.51916094A>T | CA384902318 | ACVRL1 | c.837A>T (p.Arg279Ser) c.1107A>T (p.Arg369Ser) c.585A>T (p.Arg195Ser) n.382A>T c.1149A>T (p.Arg383Ser) c.112A>T c.318A>T (p.Arg106Ser) | |
| 12 | g.51916095G>A | CA384902319 | ACVRL1 | c.838G>A (p.Val280Met) c.1108G>A (p.Val370Met) c.586G>A (p.Val196Met) n.383G>A c.1150G>A (p.Val384Met) c.113G>A c.319G>A (p.Val107Met) | COSMIC COSMIC |
| 12 | g.51916095G>C | CA384902320 | ACVRL1 | c.838G>C (p.Val280Leu) c.1108G>C (p.Val370Leu) c.586G>C (p.Val196Leu) n.383G>C c.1150G>C (p.Val384Leu) c.113G>C c.319G>C (p.Val107Leu) | |
| 12 | g.51916095G>T | CA384902321 | ACVRL1 | c.838G>T (p.Val280Leu) c.1108G>T (p.Val370Leu) c.586G>T (p.Val196Leu) n.383G>T c.1150G>T (p.Val384Leu) c.113G>T c.319G>T (p.Val107Leu) | |
| 12 | g.51916096T>A | CA384902322 | ACVRL1 | c.839T>A (p.Val280Glu) c.1109T>A (p.Val370Glu) c.587T>A (p.Val196Glu) n.384T>A c.1151T>A (p.Val384Glu) c.114T>A c.320T>A (p.Val107Glu) | dbSNP |
| 12 | g.51916096T>C | CA384902323 | ACVRL1 | c.839T>C (p.Val280Ala) c.1109T>C (p.Val370Ala) c.587T>C (p.Val196Ala) n.384T>C c.1151T>C (p.Val384Ala) c.114T>C c.320T>C (p.Val107Ala) | |
| 12 | g.51916096T>G | CA384902325 | ACVRL1 | c.839T>G (p.Val280Gly) c.1109T>G (p.Val370Gly) c.587T>G (p.Val196Gly) n.384T>G c.1151T>G (p.Val384Gly) c.114T>G c.320T>G (p.Val107Gly) | dbSNP |
| 12 | g.51916097G>A | CA479810430 | ACVRL1 | c.840G>A (p.Val280=) c.1110G>A (p.Val370=) c.588G>A (p.Val196=) n.385G>A c.1152G>A (p.Val384=) c.115G>A c.321G>A (p.Val107=) | ClinVar |
| 12 | g.51916097G>C | CA479810432 | ACVRL1 | c.840G>C (p.Val280=) c.1110G>C (p.Val370=) c.588G>C (p.Val196=) n.385G>C c.1152G>C (p.Val384=) c.115G>C c.321G>C (p.Val107=) | |
| 12 | g.51916097G>T | CA479810435 | ACVRL1 | c.840G>T (p.Val280=) c.1110G>T (p.Val370=) c.588G>T (p.Val196=) n.385G>T c.1152G>T (p.Val384=) c.115G>T c.321G>T (p.Val107=) | |
| 12 | g.51916099dup | CA2618859563 | ACVRL1 | c.842dup (p.Thr282HisfsTer20) c.1112dup (p.Thr372HisfsTer20) c.590dup (p.Thr198HisfsTer20) n.387dup c.1154dup (p.Thr386HisfsTer20) c.117dup c.323dup (p.Thr109HisfsTer20) | gnomAD v4 |
| 12 | g.51916098G>A | CA384902330 | ACVRL1 | c.841G>A (p.Gly281Ser) c.1111G>A (p.Gly371Ser) c.589G>A (p.Gly197Ser) n.386G>A c.1153G>A (p.Gly385Ser) c.116G>A c.322G>A (p.Gly108Ser) | ClinVar |
| 12 | g.51916098G>C | CA384902336 | ACVRL1 | c.841G>C (p.Gly281Arg) c.1111G>C (p.Gly371Arg) c.589G>C (p.Gly197Arg) n.386G>C c.1153G>C (p.Gly385Arg) c.116G>C c.322G>C (p.Gly108Arg) | |
| 12 | g.51916098G>T | CA384902334 | ACVRL1 | c.841G>T (p.Gly281Cys) c.1111G>T (p.Gly371Cys) c.589G>T (p.Gly197Cys) n.386G>T c.1153G>T (p.Gly385Cys) c.116G>T c.322G>T (p.Gly108Cys) | ClinVar dbSNP |
| 12 | g.51916099G>A | CA384902343 | ACVRL1 | c.842G>A (p.Gly281Asp) c.1112G>A (p.Gly371Asp) c.590G>A (p.Gly197Asp) n.387G>A c.1154G>A (p.Gly385Asp) c.117G>A c.323G>A (p.Gly108Asp) | dbSNP |
| 12 | g.51916099G>C | CA384902347 | ACVRL1 | c.842G>C (p.Gly281Ala) c.1112G>C (p.Gly371Ala) c.590G>C (p.Gly197Ala) n.387G>C c.1154G>C (p.Gly385Ala) c.117G>C c.323G>C (p.Gly108Ala) | ClinVar dbSNP |
| 12 | g.51916099G= | CA2036236835 | ACVRL1 | c.842G= (p.Gly281=) c.1112G= (p.Gly371=) c.590G= (p.Gly197=) n.387G= c.1154G= (p.Gly385=) c.117G= c.323G= (p.Gly108=) | |
| 12 | g.51916099G>T | CA384902346 | ACVRL1 | c.842G>T (p.Gly281Val) c.1112G>T (p.Gly371Val) c.590G>T (p.Gly197Val) n.387G>T c.1154G>T (p.Gly385Val) c.117G>T c.323G>T (p.Gly108Val) | |
| 12 | g.51916100C>A | CA479810455 | ACVRL1 | c.843C>A (p.Gly281=) c.1113C>A (p.Gly371=) c.591C>A (p.Gly197=) n.388C>A c.1155C>A (p.Gly385=) c.118C>A c.324C>A (p.Gly108=) | |
| 12 | g.51916100C= | CA2036236837 | ACVRL1 | c.843C= (p.Gly281=) c.1113C= (p.Gly371=) c.591C= (p.Gly197=) n.388C= c.1155C= (p.Gly385=) c.118C= c.324C= (p.Gly108=) |