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.51920776T>A | CA479816313 | ACVRL1 | c.1125T>A (p.Ala375=) c.1395T>A (p.Ala465=) c.873T>A (p.Ala291=) c.1437T>A (p.Ala479=) c.606T>A (p.Ala202=) | |
| 12 | g.51920776T>C | CA479816317 | ACVRL1 | c.1125T>C (p.Ala375=) c.1395T>C (p.Ala465=) c.873T>C (p.Ala291=) c.1437T>C (p.Ala479=) c.606T>C (p.Ala202=) | |
| 12 | g.51920776T>G | CA479816322 | ACVRL1 | c.1125T>G (p.Ala375=) c.1395T>G (p.Ala465=) c.873T>G (p.Ala291=) c.1437T>G (p.Ala479=) c.606T>G (p.Ala202=) | |
| 12 | g.51920777C>A | CA384905327 | ACVRL1 | c.1126C>A (p.Gln376Lys) c.1396C>A (p.Gln466Lys) c.874C>A (p.Gln292Lys) c.1438C>A (p.Gln480Lys) c.607C>A (p.Gln203Lys) | |
| 12 | g.51920777C>G | CA384905329 | ACVRL1 | c.1126C>G (p.Gln376Glu) c.1396C>G (p.Gln466Glu) c.874C>G (p.Gln292Glu) c.1438C>G (p.Gln480Glu) c.607C>G (p.Gln203Glu) | |
| 12 | g.51920777C>T | CA384905331 | ACVRL1 | c.1126C>T (p.Gln376Ter) c.1396C>T (p.Gln466Ter) c.874C>T (p.Gln292Ter) c.1438C>T (p.Gln480Ter) c.607C>T (p.Gln203Ter) | ClinVar |
| 12 | g.51920778A>C | CA384905339 | ACVRL1 | c.1127A>C (p.Gln376Pro) c.1397A>C (p.Gln466Pro) c.875A>C (p.Gln292Pro) c.1439A>C (p.Gln480Pro) c.608A>C (p.Gln203Pro) | |
| 12 | g.51920778A>G | CA384905340 | ACVRL1 | c.1127A>G (p.Gln376Arg) c.1397A>G (p.Gln466Arg) c.875A>G (p.Gln292Arg) c.1439A>G (p.Gln480Arg) c.608A>G (p.Gln203Arg) | |
| 12 | g.51920778A>T | CA384905341 | ACVRL1 | c.1127A>T (p.Gln376Leu) c.1397A>T (p.Gln466Leu) c.875A>T (p.Gln292Leu) c.1439A>T (p.Gln480Leu) c.608A>T (p.Gln203Leu) | |
| 12 | g.51920779_51920780del | CA2580086438 | ACVRL1 | c.1128_1129del (p.Gln376HisfsTer27) c.1398_1399del (p.Gln466HisfsTer27) c.876_877del (p.Gln292HisfsTer27) c.1440_1441del (p.Gln480HisfsTer27) c.609_610del (p.Gln203HisfsTer27) | ClinVar |
| 12 | g.51920779G>A | CA479816341 | ACVRL1 | c.1128G>A (p.Gln376=) c.1398G>A (p.Gln466=) c.876G>A (p.Gln292=) c.1440G>A (p.Gln480=) c.609G>A (p.Gln203=) | |
| 12 | g.51920779G>C | CA384905342 | ACVRL1 | c.1128G>C (p.Gln376His) c.1398G>C (p.Gln466His) c.876G>C (p.Gln292His) c.1440G>C (p.Gln480His) c.609G>C (p.Gln203His) | |
| 12 | g.51920779G>T | CA384905343 | ACVRL1 | c.1128G>T (p.Gln376His) c.1398G>T (p.Gln466His) c.876G>T (p.Gln292His) c.1440G>T (p.Gln480His) c.609G>T (p.Gln203His) | |
| 12 | g.51920780A= | CA2036241697 | ACVRL1 | c.1129A= (p.Met377=) c.1399A= (p.Met467=) c.877A= (p.Met293=) c.1441A= (p.Met481=) c.610A= (p.Met204=) | |
| 12 | g.51920780A>C | CA384905348 | ACVRL1 | c.1129A>C (p.Met377Leu) c.1399A>C (p.Met467Leu) c.877A>C (p.Met293Leu) c.1441A>C (p.Met481Leu) c.610A>C (p.Met204Leu) | |
| 12 | g.51920780A>G | CA6573169 | ACVRL1 | c.1129A>G (p.Met377Val) c.1399A>G (p.Met467Val) c.877A>G (p.Met293Val) c.1441A>G (p.Met481Val) c.610A>G (p.Met204Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51920780A>T | CA384905344 | ACVRL1 | c.1129A>T (p.Met377Leu) c.1399A>T (p.Met467Leu) c.877A>T (p.Met293Leu) c.1441A>T (p.Met481Leu) c.610A>T (p.Met204Leu) | |
| 12 | g.51920781T>A | CA384905349 | ACVRL1 | c.1130T>A (p.Met377Lys) c.1400T>A (p.Met467Lys) c.878T>A (p.Met293Lys) c.1442T>A (p.Met481Lys) c.611T>A (p.Met204Lys) | |
| 12 | g.51920781T>C | CA384905351 | ACVRL1 | c.1130T>C (p.Met377Thr) c.1400T>C (p.Met467Thr) c.878T>C (p.Met293Thr) c.1442T>C (p.Met481Thr) c.611T>C (p.Met204Thr) | |
| 12 | g.51920781T>G | CA384905373 | ACVRL1 | c.1130T>G (p.Met377Arg) c.1400T>G (p.Met467Arg) c.878T>G (p.Met293Arg) c.1442T>G (p.Met481Arg) c.611T>G (p.Met204Arg) | |
| 12 | g.51920782G>A | CA384905375 | ACVRL1 | c.1131G>A (p.Met377Ile) c.1401G>A (p.Met467Ile) c.879G>A (p.Met293Ile) c.1443G>A (p.Met481Ile) c.612G>A (p.Met204Ile) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51920782G>C | CA384905376 | ACVRL1 | c.1131G>C (p.Met377Ile) c.1401G>C (p.Met467Ile) c.879G>C (p.Met293Ile) c.1443G>C (p.Met481Ile) c.612G>C (p.Met204Ile) | |
| 12 | g.51920782G>T | CA384905377 | ACVRL1 | c.1131G>T (p.Met377Ile) c.1401G>T (p.Met467Ile) c.879G>T (p.Met293Ile) c.1443G>T (p.Met481Ile) c.612G>T (p.Met204Ile) | |
| 12 | g.51920783A= | CA2036241702 | ACVRL1 | c.1132A= (p.Met378=) c.1402A= (p.Met468=) c.880A= (p.Met294=) c.1444A= (p.Met482=) c.613A= (p.Met205=) | |
| 12 | g.51920783A>C | CA384905378 | ACVRL1 | c.1132A>C (p.Met378Leu) c.1402A>C (p.Met468Leu) c.880A>C (p.Met294Leu) c.1444A>C (p.Met482Leu) c.613A>C (p.Met205Leu) | |
| 12 | g.51920783A>G | CA384905379 | ACVRL1 | c.1132A>G (p.Met378Val) c.1402A>G (p.Met468Val) c.880A>G (p.Met294Val) c.1444A>G (p.Met482Val) c.613A>G (p.Met205Val) | |
| 12 | g.51920783A>T | CA384905381 | ACVRL1 | c.1132A>T (p.Met378Leu) c.1402A>T (p.Met468Leu) c.880A>T (p.Met294Leu) c.1444A>T (p.Met482Leu) c.613A>T (p.Met205Leu) | |
| 12 | g.51920784T>A | CA384905388 | ACVRL1 | c.1133T>A (p.Met378Lys) c.1403T>A (p.Met468Lys) c.881T>A (p.Met294Lys) c.1445T>A (p.Met482Lys) c.614T>A (p.Met205Lys) | |
| 12 | g.51920784T>C | CA384905389 | ACVRL1 | c.1133T>C (p.Met378Thr) c.1403T>C (p.Met468Thr) c.881T>C (p.Met294Thr) c.1445T>C (p.Met482Thr) c.614T>C (p.Met205Thr) | |
| 12 | g.51920784T>G | CA384905396 | ACVRL1 | c.1133T>G (p.Met378Arg) c.1403T>G (p.Met468Arg) c.881T>G (p.Met294Arg) c.1445T>G (p.Met482Arg) c.614T>G (p.Met205Arg) | ClinVar |
| 12 | g.51920787_51920794dup | CA16043812 | ACVRL1 | c.1136_1143dup (p.Trp382GlyfsTer?) c.1406_1413dup (p.Trp472GlyfsTer?) c.884_891dup (p.Trp298GlyfsTer?) c.1448_1455dup (p.Trp486GlyfsTer?) c.617_624dup (p.Trp209GlyfsTer?) | ClinVar dbSNP |
| 12 | g.51920785G>A | CA384905402 | ACVRL1 | c.1134G>A (p.Met378Ile) c.1404G>A (p.Met468Ile) c.882G>A (p.Met294Ile) c.1446G>A (p.Met482Ile) c.615G>A (p.Met205Ile) | gnomAD v4 |
| 12 | g.51920785G>C | CA384905404 | ACVRL1 | c.1134G>C (p.Met378Ile) c.1404G>C (p.Met468Ile) c.882G>C (p.Met294Ile) c.1446G>C (p.Met482Ile) c.615G>C (p.Met205Ile) | |
| 12 | g.51920785G>T | CA384905399 | ACVRL1 | c.1134G>T (p.Met378Ile) c.1404G>T (p.Met468Ile) c.882G>T (p.Met294Ile) c.1446G>T (p.Met482Ile) c.615G>T (p.Met205Ile) | COSMIC COSMIC |
| 12 | g.51920786C>A | CA6573171 | ACVRL1 | c.1135C>A (p.Arg379=) c.1405C>A (p.Arg469=) c.883C>A (p.Arg295=) c.1447C>A (p.Arg483=) c.616C>A (p.Arg206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920786C= | CA2036241714 | ACVRL1 | c.1135C= (p.Arg379=) c.1405C= (p.Arg469=) c.883C= (p.Arg295=) c.1447C= (p.Arg483=) c.616C= (p.Arg206=) | |
| 12 | g.51920786C>G | CA384905405 | ACVRL1 | c.1135C>G (p.Arg379Gly) c.1405C>G (p.Arg469Gly) c.883C>G (p.Arg295Gly) c.1447C>G (p.Arg483Gly) c.616C>G (p.Arg206Gly) | |
| 12 | g.51920786C>T | CA6573170 | ACVRL1 | c.1135C>T (p.Arg379Trp) c.1405C>T (p.Arg469Trp) c.883C>T (p.Arg295Trp) c.1447C>T (p.Arg483Trp) c.616C>T (p.Arg206Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920787G>A | CA6573172 | ACVRL1 | c.1136G>A (p.Arg379Gln) c.1406G>A (p.Arg469Gln) c.884G>A (p.Arg295Gln) c.1448G>A (p.Arg483Gln) c.617G>A (p.Arg206Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920787G>C | CA6573173 | ACVRL1 | c.1136G>C (p.Arg379Pro) c.1406G>C (p.Arg469Pro) c.884G>C (p.Arg295Pro) c.1448G>C (p.Arg483Pro) c.617G>C (p.Arg206Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51920787G= | CA2036241719 | ACVRL1 | c.1136G= (p.Arg379=) c.1406G= (p.Arg469=) c.884G= (p.Arg295=) c.1448G= (p.Arg483=) c.617G= (p.Arg206=) | |
| 12 | g.51920787G>T | CA384905452 | ACVRL1 | c.1136G>T (p.Arg379Leu) c.1406G>T (p.Arg469Leu) c.884G>T (p.Arg295Leu) c.1448G>T (p.Arg483Leu) c.617G>T (p.Arg206Leu) | |
| 12 | g.51920789dup | CA2580086439 | ACVRL1 | c.1138dup (p.Glu380GlyfsTer24) c.1408dup (p.Glu470GlyfsTer24) c.886dup (p.Glu296GlyfsTer24) c.1450dup (p.Glu484GlyfsTer24) c.619dup (p.Glu207GlyfsTer24) | ClinVar |
| 12 | g.51920788G>A | CA479816411 | ACVRL1 | c.1137G>A (p.Arg379=) c.1407G>A (p.Arg469=) c.885G>A (p.Arg295=) c.1449G>A (p.Arg483=) c.618G>A (p.Arg206=) | gnomAD v4 |
| 12 | g.51920788G>C | CA479816412 | ACVRL1 | c.1137G>C (p.Arg379=) c.1407G>C (p.Arg469=) c.885G>C (p.Arg295=) c.1449G>C (p.Arg483=) c.618G>C (p.Arg206=) | |
| 12 | g.51920788G>T | CA479816416 | ACVRL1 | c.1137G>T (p.Arg379=) c.1407G>T (p.Arg469=) c.885G>T (p.Arg295=) c.1449G>T (p.Arg483=) c.618G>T (p.Arg206=) | |
| 12 | g.51920789G>A | CA384905455 | ACVRL1 | c.1138G>A (p.Glu380Lys) c.1408G>A (p.Glu470Lys) c.886G>A (p.Glu296Lys) c.1450G>A (p.Glu484Lys) c.619G>A (p.Glu207Lys) | |
| 12 | g.51920789G>C | CA384905458 | ACVRL1 | c.1138G>C (p.Glu380Gln) c.1408G>C (p.Glu470Gln) c.886G>C (p.Glu296Gln) c.1450G>C (p.Glu484Gln) c.619G>C (p.Glu207Gln) | |
| 12 | g.51920789G>T | CA384905463 | ACVRL1 | c.1138G>T (p.Glu380Ter) c.1408G>T (p.Glu470Ter) c.886G>T (p.Glu296Ter) c.1450G>T (p.Glu484Ter) c.619G>T (p.Glu207Ter) | COSMIC COSMIC |
| 12 | g.51920790A>C | CA384905466 | ACVRL1 | c.1139A>C (p.Glu380Ala) c.1409A>C (p.Glu470Ala) c.887A>C (p.Glu296Ala) c.1451A>C (p.Glu484Ala) c.620A>C (p.Glu207Ala) |