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.51920820_51920887del | CA2695216730 | ACVRL1 | c.1169_1236del (p.Leu390ProfsTer?) c.1439_1506del (p.Leu480ProfsTer?) c.917_984del (p.Leu306ProfsTer?) c.1481_1548del (p.Leu494ProfsTer?) c.650_717del (p.Leu217ProfsTer?) | |
| 12 | g.51920855del | CA645594556 | ACVRL1 | c.1204del (p.Ile402LeufsTer10) c.1474del (p.Ile492LeufsTer10) c.952del (p.Ile318LeufsTer10) c.1516del (p.Ile506LeufsTer10) c.685del (p.Ile229LeufsTer10) | COSMIC COSMIC |
| 12 | g.51920852A>C | CA384906032 | ACVRL1 | c.1201A>C (p.Lys401Gln) c.1471A>C (p.Lys491Gln) c.949A>C (p.Lys317Gln) c.1513A>C (p.Lys505Gln) c.682A>C (p.Lys228Gln) | |
| 12 | g.51920852A>G | CA384906034 | ACVRL1 | c.1201A>G (p.Lys401Glu) c.1471A>G (p.Lys491Glu) c.949A>G (p.Lys317Glu) c.1513A>G (p.Lys505Glu) c.682A>G (p.Lys228Glu) | |
| 12 | g.51920852A>T | CA384906035 | ACVRL1 | c.1201A>T (p.Lys401Ter) c.1471A>T (p.Lys491Ter) c.949A>T (p.Lys317Ter) c.1513A>T (p.Lys505Ter) c.682A>T (p.Lys228Ter) | |
| 12 | g.51920853A= | CA2036241966 | ACVRL1 | c.1202A= (p.Lys401=) c.1472A= (p.Lys491=) c.950A= (p.Lys317=) c.1514A= (p.Lys505=) c.683A= (p.Lys228=) | |
| 12 | g.51920853A>C | CA384906037 | ACVRL1 | c.1202A>C (p.Lys401Thr) c.1472A>C (p.Lys491Thr) c.950A>C (p.Lys317Thr) c.1514A>C (p.Lys505Thr) c.683A>C (p.Lys228Thr) | |
| 12 | g.51920853A>G | CA384906039 | ACVRL1 | c.1202A>G (p.Lys401Arg) c.1472A>G (p.Lys491Arg) c.950A>G (p.Lys317Arg) c.1514A>G (p.Lys505Arg) c.683A>G (p.Lys228Arg) | |
| 12 | g.51920853A>T | CA384906043 | ACVRL1 | c.1202A>T (p.Lys401Ile) c.1472A>T (p.Lys491Ile) c.950A>T (p.Lys317Ile) c.1514A>T (p.Lys505Ile) c.683A>T (p.Lys228Ile) | |
| 12 | g.51920854A>C | CA384906059 | ACVRL1 | c.1203A>C (p.Lys401Asn) c.1473A>C (p.Lys491Asn) c.951A>C (p.Lys317Asn) c.1515A>C (p.Lys505Asn) c.684A>C (p.Lys228Asn) | |
| 12 | g.51920854A>G | CA479817089 | ACVRL1 | c.1203A>G (p.Lys401=) c.1473A>G (p.Lys491=) c.951A>G (p.Lys317=) c.1515A>G (p.Lys505=) c.684A>G (p.Lys228=) | |
| 12 | g.51920854A>T | CA384906067 | ACVRL1 | c.1203A>T (p.Lys401Asn) c.1473A>T (p.Lys491Asn) c.951A>T (p.Lys317Asn) c.1515A>T (p.Lys505Asn) c.684A>T (p.Lys228Asn) | |
| 12 | g.51920855A>C | CA384906071 | ACVRL1 | c.1204A>C (p.Ile402Leu) c.1474A>C (p.Ile492Leu) c.952A>C (p.Ile318Leu) c.1516A>C (p.Ile506Leu) c.685A>C (p.Ile229Leu) | |
| 12 | g.51920855A>G | CA384906072 | ACVRL1 | c.1204A>G (p.Ile402Val) c.1474A>G (p.Ile492Val) c.952A>G (p.Ile318Val) c.1516A>G (p.Ile506Val) c.685A>G (p.Ile229Val) | |
| 12 | g.51920855A>T | CA384906075 | ACVRL1 | c.1204A>T (p.Ile402Phe) c.1474A>T (p.Ile492Phe) c.952A>T (p.Ile318Phe) c.1516A>T (p.Ile506Phe) c.685A>T (p.Ile229Phe) | |
| 12 | g.51920856T>A | CA384906088 | ACVRL1 | c.1205T>A (p.Ile402Asn) c.1475T>A (p.Ile492Asn) c.953T>A (p.Ile318Asn) c.1517T>A (p.Ile506Asn) c.686T>A (p.Ile229Asn) | |
| 12 | g.51920856T>C | CA384906082 | ACVRL1 | c.1205T>C (p.Ile402Thr) c.1475T>C (p.Ile492Thr) c.953T>C (p.Ile318Thr) c.1517T>C (p.Ile506Thr) c.686T>C (p.Ile229Thr) | |
| 12 | g.51920856T>G | CA384906083 | ACVRL1 | c.1205T>G (p.Ile402Ser) c.1475T>G (p.Ile492Ser) c.953T>G (p.Ile318Ser) c.1517T>G (p.Ile506Ser) c.686T>G (p.Ile229Ser) | |
| 12 | g.51920857T>A | CA479817117 | ACVRL1 | c.1206T>A (p.Ile402=) c.1476T>A (p.Ile492=) c.954T>A (p.Ile318=) c.1518T>A (p.Ile506=) c.687T>A (p.Ile229=) | |
| 12 | g.51920857T>C | CA479817121 | ACVRL1 | c.1206T>C (p.Ile402=) c.1476T>C (p.Ile492=) c.954T>C (p.Ile318=) c.1518T>C (p.Ile506=) c.687T>C (p.Ile229=) | |
| 12 | g.51920857T>G | CA384906098 | ACVRL1 | c.1206T>G (p.Ile402Met) c.1476T>G (p.Ile492Met) c.954T>G (p.Ile318Met) c.1518T>G (p.Ile506Met) c.687T>G (p.Ile229Met) | |
| 12 | g.51920858A>C | CA384906102 | ACVRL1 | c.1207A>C (p.Ser403Arg) c.1477A>C (p.Ser493Arg) c.955A>C (p.Ser319Arg) c.1519A>C (p.Ser507Arg) c.688A>C (p.Ser230Arg) | |
| 12 | g.51920858A>G | CA384906105 | ACVRL1 | c.1207A>G (p.Ser403Gly) c.1477A>G (p.Ser493Gly) c.955A>G (p.Ser319Gly) c.1519A>G (p.Ser507Gly) c.688A>G (p.Ser230Gly) | |
| 12 | g.51920858A>T | CA384906111 | ACVRL1 | c.1207A>T (p.Ser403Cys) c.1477A>T (p.Ser493Cys) c.955A>T (p.Ser319Cys) c.1519A>T (p.Ser507Cys) c.688A>T (p.Ser230Cys) | |
| 12 | g.51920858_51920859delinsAG | CA2036241969 | ACVRL1 | c.1207_1208delinsAG (p.Ser403=) c.1477_1478delinsAG (p.Ser493=) c.955_956delinsAG (p.Ser319=) c.1519_1520delinsAG (p.Ser507=) c.688_689delinsAG (p.Ser230=) | |
| 12 | g.51920859del | CA16609765 | ACVRL1 | c.1208del (p.Ser403ThrfsTer9) c.1478del (p.Ser493ThrfsTer9) c.956del (p.Ser319ThrfsTer9) c.1520del (p.Ser507ThrfsTer9) c.689del (p.Ser230ThrfsTer9) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920859G>A | CA384906116 | ACVRL1 | c.1208G>A (p.Ser403Asn) c.1478G>A (p.Ser493Asn) c.956G>A (p.Ser319Asn) c.1520G>A (p.Ser507Asn) c.689G>A (p.Ser230Asn) | |
| 12 | g.51920859G>C | CA384906129 | ACVRL1 | c.1208G>C (p.Ser403Thr) c.1478G>C (p.Ser493Thr) c.956G>C (p.Ser319Thr) c.1520G>C (p.Ser507Thr) c.689G>C (p.Ser230Thr) | |
| 12 | g.51920859G= | CA2036241977 | ACVRL1 | c.1208G= (p.Ser403=) c.1478G= (p.Ser493=) c.956G= (p.Ser319=) c.1520G= (p.Ser507=) c.689G= (p.Ser230=) | |
| 12 | g.51920859G>T | CA6573178 | ACVRL1 | c.1208G>T (p.Ser403Ile) c.1478G>T (p.Ser493Ile) c.956G>T (p.Ser319Ile) c.1520G>T (p.Ser507Ile) c.689G>T (p.Ser230Ile) | dbSNP ExAC gnomAD v2 |
| 12 | g.51920860C>A | CA384906135 | ACVRL1 | c.1209C>A (p.Ser403Arg) c.1479C>A (p.Ser493Arg) c.957C>A (p.Ser319Arg) c.1521C>A (p.Ser507Arg) c.690C>A (p.Ser230Arg) | |
| 12 | g.51920860C= | CA2036241978 | ACVRL1 | c.1209C= (p.Ser403=) c.1479C= (p.Ser493=) c.957C= (p.Ser319=) c.1521C= (p.Ser507=) c.690C= (p.Ser230=) | |
| 12 | g.51920860C>G | CA384906162 | ACVRL1 | c.1209C>G (p.Ser403Arg) c.1479C>G (p.Ser493Arg) c.957C>G (p.Ser319Arg) c.1521C>G (p.Ser507Arg) c.690C>G (p.Ser230Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920860C>T | CA479817155 | ACVRL1 | c.1209C>T (p.Ser403=) c.1479C>T (p.Ser493=) c.957C>T (p.Ser319=) c.1521C>T (p.Ser507=) c.690C>T (p.Ser230=) | |
| 12 | g.51920861A>C | CA384906166 | ACVRL1 | c.1210A>C (p.Asn404His) c.1480A>C (p.Asn494His) c.958A>C (p.Asn320His) c.1522A>C (p.Asn508His) c.691A>C (p.Asn231His) | |
| 12 | g.51920861A>G | CA384906167 | ACVRL1 | c.1210A>G (p.Asn404Asp) c.1480A>G (p.Asn494Asp) c.958A>G (p.Asn320Asp) c.1522A>G (p.Asn508Asp) c.691A>G (p.Asn231Asp) | |
| 12 | g.51920861A>T | CA384906168 | ACVRL1 | c.1210A>T (p.Asn404Tyr) c.1480A>T (p.Asn494Tyr) c.958A>T (p.Asn320Tyr) c.1522A>T (p.Asn508Tyr) c.691A>T (p.Asn231Tyr) | |
| 12 | g.51920862A>C | CA384906171 | ACVRL1 | c.1211A>C (p.Asn404Thr) c.1481A>C (p.Asn494Thr) c.959A>C (p.Asn320Thr) c.1523A>C (p.Asn508Thr) c.692A>C (p.Asn231Thr) | |
| 12 | g.51920862A>G | CA384906170 | ACVRL1 | c.1211A>G (p.Asn404Ser) c.1481A>G (p.Asn494Ser) c.959A>G (p.Asn320Ser) c.1523A>G (p.Asn508Ser) c.692A>G (p.Asn231Ser) | |
| 12 | g.51920862A>T | CA384906169 | ACVRL1 | c.1211A>T (p.Asn404Ile) c.1481A>T (p.Asn494Ile) c.959A>T (p.Asn320Ile) c.1523A>T (p.Asn508Ile) c.692A>T (p.Asn231Ile) | |
| 12 | g.51920863C>A | CA384906173 | ACVRL1 | c.1212C>A (p.Asn404Lys) c.1482C>A (p.Asn494Lys) c.960C>A (p.Asn320Lys) c.1524C>A (p.Asn508Lys) c.693C>A (p.Asn231Lys) | |
| 12 | g.51920863C>G | CA384906182 | ACVRL1 | c.1212C>G (p.Asn404Lys) c.1482C>G (p.Asn494Lys) c.960C>G (p.Asn320Lys) c.1524C>G (p.Asn508Lys) c.693C>G (p.Asn231Lys) | |
| 12 | g.51920863C>T | CA479817177 | ACVRL1 | c.1212C>T (p.Asn404=) c.1482C>T (p.Asn494=) c.960C>T (p.Asn320=) c.1524C>T (p.Asn508=) c.693C>T (p.Asn231=) | |
| 12 | g.51920864A= | CA2036241982 | ACVRL1 | c.1213A= (p.Ser405=) c.1483A= (p.Ser495=) c.961A= (p.Ser321=) c.1525A= (p.Ser509=) c.694A= (p.Ser232=) | |
| 12 | g.51920864A>C | CA384906186 | ACVRL1 | c.1213A>C (p.Ser405Arg) c.1483A>C (p.Ser495Arg) c.961A>C (p.Ser321Arg) c.1525A>C (p.Ser509Arg) c.694A>C (p.Ser232Arg) | |
| 12 | g.51920864A>G | CA236367787 | ACVRL1 | c.1213A>G (p.Ser405Gly) c.1483A>G (p.Ser495Gly) c.961A>G (p.Ser321Gly) c.1525A>G (p.Ser509Gly) c.694A>G (p.Ser232Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920864A>T | CA384906200 | ACVRL1 | c.1213A>T (p.Ser405Cys) c.1483A>T (p.Ser495Cys) c.961A>T (p.Ser321Cys) c.1525A>T (p.Ser509Cys) c.694A>T (p.Ser232Cys) | |
| 12 | g.51920865G>A | CA384906203 | ACVRL1 | c.1214G>A (p.Ser405Asn) c.1484G>A (p.Ser495Asn) c.962G>A (p.Ser321Asn) c.1526G>A (p.Ser509Asn) c.695G>A (p.Ser232Asn) | |
| 12 | g.51920865G>C | CA384906204 | ACVRL1 | c.1214G>C (p.Ser405Thr) c.1484G>C (p.Ser495Thr) c.962G>C (p.Ser321Thr) c.1526G>C (p.Ser509Thr) c.695G>C (p.Ser232Thr) | |
| 12 | g.51920865G>T | CA384906205 | ACVRL1 | c.1214G>T (p.Ser405Ile) c.1484G>T (p.Ser495Ile) c.962G>T (p.Ser321Ile) c.1526G>T (p.Ser509Ile) c.695G>T (p.Ser232Ile) |