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.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=) | |
| 12 | g.51916100C>G | CA479810460 | ACVRL1 | c.843C>G (p.Gly281=) c.1113C>G (p.Gly371=) c.591C>G (p.Gly197=) n.388C>G c.1155C>G (p.Gly385=) c.118C>G c.324C>G (p.Gly108=) | |
| 12 | g.51916100C>T | CA479810463 | ACVRL1 | c.843C>T (p.Gly281=) c.1113C>T (p.Gly371=) c.591C>T (p.Gly197=) n.388C>T c.1155C>T (p.Gly385=) c.118C>T c.324C>T (p.Gly108=) | dbSNP |
| 12 | g.51916100_51916101insG | CA119412 | ACVRL1 | c.843_844insG (p.Thr282AspfsTer20) c.1113_1114insG (p.Thr372AspfsTer20) c.591_592insG (p.Thr198AspfsTer20) n.388_389insG c.1155_1156insG (p.Thr386AspfsTer20) c.118_119insG c.324_325insG (p.Thr109AspfsTer20) | ClinVar dbSNP |
| 12 | g.51916101A>C | CA384902350 | ACVRL1 | c.844A>C (p.Thr282Pro) c.1114A>C (p.Thr372Pro) c.592A>C (p.Thr198Pro) n.389A>C c.1156A>C (p.Thr386Pro) c.119A>C c.325A>C (p.Thr109Pro) | COSMIC COSMIC |
| 12 | g.51916101A>G | CA384902355 | ACVRL1 | c.844A>G (p.Thr282Ala) c.1114A>G (p.Thr372Ala) c.592A>G (p.Thr198Ala) n.389A>G c.1156A>G (p.Thr386Ala) c.119A>G c.325A>G (p.Thr109Ala) | |
| 12 | g.51916101A>T | CA384902358 | ACVRL1 | c.844A>T (p.Thr282Ser) c.1114A>T (p.Thr372Ser) c.592A>T (p.Thr198Ser) n.389A>T c.1156A>T (p.Thr386Ser) c.119A>T c.325A>T (p.Thr109Ser) | |
| 12 | g.51916102C>A | CA384902362 | ACVRL1 | c.845C>A (p.Thr282Asn) c.1115C>A (p.Thr372Asn) c.593C>A (p.Thr198Asn) n.390C>A c.1157C>A (p.Thr386Asn) c.120C>A c.326C>A (p.Thr109Asn) | |
| 12 | g.51916102C= | CA2036236851 | ACVRL1 | c.845C= (p.Thr282=) c.1115C= (p.Thr372=) c.593C= (p.Thr198=) n.390C= c.1157C= (p.Thr386=) c.120C= c.326C= (p.Thr109=) | |
| 12 | g.51916102C>G | CA384902365 | ACVRL1 | c.845C>G (p.Thr282Ser) c.1115C>G (p.Thr372Ser) c.593C>G (p.Thr198Ser) n.390C>G c.1157C>G (p.Thr386Ser) c.120C>G c.326C>G (p.Thr109Ser) | |
| 12 | g.51916102C>T | CA384902371 | ACVRL1 | c.845C>T (p.Thr282Ile) c.1115C>T (p.Thr372Ile) c.593C>T (p.Thr198Ile) n.390C>T c.1157C>T (p.Thr386Ile) c.120C>T c.326C>T (p.Thr109Ile) | ClinVar dbSNP |
| 12 | g.51916103C>A | CA479810479 | ACVRL1 | c.846C>A (p.Thr282=) c.1116C>A (p.Thr372=) c.594C>A (p.Thr198=) n.391C>A c.1158C>A (p.Thr386=) c.121C>A c.327C>A (p.Thr109=) | |
| 12 | g.51916103C= | CA2036236855 | ACVRL1 | c.846C= (p.Thr282=) c.1116C= (p.Thr372=) c.594C= (p.Thr198=) n.391C= c.1158C= (p.Thr386=) c.121C= c.327C= (p.Thr109=) | |
| 12 | g.51916103C>G | CA479810482 | ACVRL1 | c.846C>G (p.Thr282=) c.1116C>G (p.Thr372=) c.594C>G (p.Thr198=) n.391C>G c.1158C>G (p.Thr386=) c.121C>G c.327C>G (p.Thr109=) | |
| 12 | g.51916103C>T | CA479810485 | ACVRL1 | c.846C>T (p.Thr282=) c.1116C>T (p.Thr372=) c.594C>T (p.Thr198=) n.391C>T c.1158C>T (p.Thr386=) c.121C>T c.327C>T (p.Thr109=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916104A>C | CA384902374 | ACVRL1 | c.847A>C (p.Lys283Gln) c.1117A>C (p.Lys373Gln) c.595A>C (p.Lys199Gln) n.392A>C c.1159A>C (p.Lys387Gln) c.122A>C c.328A>C (p.Lys110Gln) | |
| 12 | g.51916104A>G | CA384902376 | ACVRL1 | c.847A>G (p.Lys283Glu) c.1117A>G (p.Lys373Glu) c.595A>G (p.Lys199Glu) n.392A>G c.1159A>G (p.Lys387Glu) c.122A>G c.328A>G (p.Lys110Glu) | |
| 12 | g.51916104A>T | CA384902382 | ACVRL1 | c.847A>T (p.Lys283Ter) c.1117A>T (p.Lys373Ter) c.595A>T (p.Lys199Ter) n.392A>T c.1159A>T (p.Lys387Ter) c.122A>T c.328A>T (p.Lys110Ter) | |
| 12 | g.51916105del | CA2695216673 | ACVRL1 | c.848del (p.Lys283SerfsTer?) c.1118del (p.Lys373SerfsTer?) c.596del (p.Lys199SerfsTer?) n.393del c.1160del (p.Lys387SerfsTer?) c.123del c.329del (p.Lys110SerfsTer?) | |
| 12 | g.51916105A= | CA2036236862 | ACVRL1 | c.848A= (p.Lys283=) c.1118A= (p.Lys373=) c.596A= (p.Lys199=) n.393A= c.1160A= (p.Lys387=) c.123A= c.329A= (p.Lys110=) | |
| 12 | g.51916105A>C | CA384902384 | ACVRL1 | c.848A>C (p.Lys283Thr) c.1118A>C (p.Lys373Thr) c.596A>C (p.Lys199Thr) n.393A>C c.1160A>C (p.Lys387Thr) c.123A>C c.329A>C (p.Lys110Thr) | |
| 12 | g.51916105A>G | CA384902385 | ACVRL1 | c.848A>G (p.Lys283Arg) c.1118A>G (p.Lys373Arg) c.596A>G (p.Lys199Arg) n.393A>G c.1160A>G (p.Lys387Arg) c.123A>G c.329A>G (p.Lys110Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |