UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843648_102846953del | CA251545 | PAH | c.914_1199+1del c.899_1184+1del n.673_958+1del n.576_861+1del c.74-2519_303+1del n.429_714+1del c.913-2519_1142+1del | ClinVar |
| 12 | g.102843661G>A | CA386493154 | PAH | c.1184C>T (p.Ala395Val) c.1169C>T (p.Ala390Val) n.943C>T n.846C>T c.288C>T n.699C>T c.1127C>T (p.Ala376Val) | |
| 12 | g.102843661G>C | CA286498 | PAH | c.1184C>G (p.Ala395Gly) c.1169C>G (p.Ala390Gly) n.943C>G n.846C>G c.288C>G n.699C>G c.1127C>G (p.Ala376Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843661G= | CA2059446361 | PAH | c.1184C= (p.Ala395=) c.1169C= (p.Ala390=) n.943C= n.846C= c.288C= n.699C= c.1127C= (p.Ala376=) | |
| 12 | g.102843661G>T | CA229374 | PAH | c.1184C>A (p.Ala395Asp) c.1169C>A (p.Ala390Asp) n.943C>A n.846C>A c.288C>A n.699C>A c.1127C>A (p.Ala376Asp) | ClinVar dbSNP |
| 12 | g.102843662C>A | CA386493155 | PAH | c.1183G>T (p.Ala395Ser) c.1168G>T (p.Ala390Ser) n.942G>T n.845G>T c.287G>T n.698G>T c.1126G>T (p.Ala376Ser) | COSMIC |
| 12 | g.102843662C= | CA2059446375 | PAH | c.1183G= (p.Ala395=) c.1168G= (p.Ala390=) n.942G= n.845G= c.287G= n.698G= c.1126G= (p.Ala376=) | |
| 12 | g.102843662C>G | CA229373 | PAH | c.1183G>C (p.Ala395Pro) c.1168G>C (p.Ala390Pro) n.942G>C n.845G>C c.287G>C n.698G>C c.1126G>C (p.Ala376Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843662C>T | CA386493156 | PAH | c.1183G>A (p.Ala395Thr) c.1168G>A (p.Ala390Thr) n.942G>A n.845G>A c.287G>A n.698G>A c.1126G>A (p.Ala376Thr) | |
| 12 | g.102843663del | CA2797243213 | PAH | c.1182del (p.Asp394GlufsTer6) c.1167del (p.Asp389GlufsTer6) n.941del n.844del c.286del n.697del c.1125del (p.Asp375GlufsTer6) | |
| 12 | g.102843663A= | CA2059446377 | PAH | c.1182T= (p.Asp394=) c.1167T= (p.Asp389=) n.941T= n.844T= c.286T= n.697T= c.1125T= (p.Asp375=) | |
| 12 | g.102843663A>C | CA386493157 | PAH | c.1182T>G (p.Asp394Glu) c.1167T>G (p.Asp389Glu) n.941T>G n.844T>G c.286T>G n.697T>G c.1125T>G (p.Asp375Glu) | |
| 12 | g.102843663A>G | CA481375614 | PAH | c.1182T>C (p.Asp394=) c.1167T>C (p.Asp389=) n.941T>C n.844T>C c.286T>C n.697T>C c.1125T>C (p.Asp375=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843663A>T | CA386493158 | PAH | c.1182T>A (p.Asp394Glu) c.1167T>A (p.Asp389Glu) n.941T>A n.844T>A c.286T>A n.697T>A c.1125T>A (p.Asp375Glu) | |
| 12 | g.102843664T>A | CA386493159 | PAH | c.1181A>T (p.Asp394Val) c.1166A>T (p.Asp389Val) n.940A>T n.843A>T c.285A>T n.696A>T c.1124A>T (p.Asp375Val) | |
| 12 | g.102843664T>C | CA386493160 | PAH | c.1181A>G (p.Asp394Gly) c.1166A>G (p.Asp389Gly) n.940A>G n.843A>G c.285A>G n.696A>G c.1124A>G (p.Asp375Gly) | |
| 12 | g.102843664T>G | CA229372 | PAH | c.1181A>C (p.Asp394Ala) c.1166A>C (p.Asp389Ala) n.940A>C n.843A>C c.285A>C n.696A>C c.1124A>C (p.Asp375Ala) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843664T= | CA2059446384 | PAH | c.1181A= (p.Asp394=) c.1166A= (p.Asp389=) n.940A= n.843A= c.285A= n.696A= c.1124A= (p.Asp375=) | |
| 12 | g.102843664_102843665del | CA912973341 | PAH | c.1180_1181del (p.Asp394CysfsTer28) c.1165_1166del (p.Asp389CysfsTer28) n.939_940del n.842_843del c.284_285del n.695_696del c.1123_1124del (p.Asp375CysfsTer28) | |
| 12 | g.102843664_102843665delinsTC | CA2059446391 | PAH | c.1180_1181delinsGA (p.Asp394=) c.1165_1166delinsGA (p.Asp389=) n.939_940delinsGA n.842_843delinsGA c.284_285delinsGA n.695_696delinsGA c.1123_1124delinsGA (p.Asp375=) | |
| 12 | g.102843664_102843666delinsTCA | CA2059446388 | PAH | c.1179_1181delinsTGA (p.Asn393=) c.1164_1166delinsTGA (p.Asn388=) n.938_940delinsTGA n.841_843delinsTGA c.283_285delinsTGA n.694_696delinsTGA c.1122_1124delinsTGA (p.Asn374=) | |
| 12 | g.102843665del | CA658821467 | PAH | c.1180del (p.Asp394MetfsTer6) c.1165del (p.Asp389MetfsTer6) n.939del n.842del c.284del n.695del c.1123del (p.Asp375MetfsTer6) | ClinVar dbSNP |
| 12 | g.102843665C>A | CA267632 | PAH | c.1180G>T (p.Asp394Tyr) c.1165G>T (p.Asp389Tyr) n.939G>T n.842G>T c.284G>T n.695G>T c.1123G>T (p.Asp375Tyr) | ClinVar dbSNP |
| 12 | g.102843665C= | CA2059446402 | PAH | c.1180G= (p.Asp394=) c.1165G= (p.Asp389=) n.939G= n.842G= c.284G= n.695G= c.1123G= (p.Asp375=) | |
| 12 | g.102843665C>G | CA229371 | PAH | c.1180G>C (p.Asp394His) c.1165G>C (p.Asp389His) n.939G>C n.842G>C c.284G>C n.695G>C c.1123G>C (p.Asp375His) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843665C>T | CA386493161 | PAH | c.1180G>A (p.Asp394Asn) c.1165G>A (p.Asp389Asn) n.939G>A n.842G>A c.284G>A n.695G>A c.1123G>A (p.Asp375Asn) | |
| 12 | g.102843665_102843666del | CA682822360 | PAH | c.1179_1180del (p.Asn393LysfsTer29) c.1164_1165del (p.Asn388LysfsTer29) n.938_939del n.841_842del c.283_284del n.694_695del c.1122_1123del (p.Asn374LysfsTer29) | dbSNP |
| 12 | g.102843666A>C | CA386493162 | PAH | c.1179T>G (p.Asn393Lys) c.1164T>G (p.Asn388Lys) n.938T>G n.841T>G c.283T>G n.694T>G c.1122T>G (p.Asn374Lys) | |
| 12 | g.102843666A>G | CA481375619 | PAH | c.1179T>C (p.Asn393=) c.1164T>C (p.Asn388=) n.938T>C n.841T>C c.283T>C n.694T>C c.1122T>C (p.Asn374=) | |
| 12 | g.102843666A>T | CA386493163 | PAH | c.1179T>A (p.Asn393Lys) c.1164T>A (p.Asn388Lys) n.938T>A n.841T>A c.283T>A n.694T>A c.1122T>A (p.Asn374Lys) | |
| 12 | g.102843667T>A | CA386493164 | PAH | c.1178A>T (p.Asn393Ile) c.1163A>T (p.Asn388Ile) n.937A>T n.840A>T c.282A>T n.693A>T c.1121A>T (p.Asn374Ile) | |
| 12 | g.102843667T>C | CA242744206 | PAH | c.1178A>G (p.Asn393Ser) c.1163A>G (p.Asn388Ser) n.937A>G n.840A>G c.282A>G n.693A>G c.1121A>G (p.Asn374Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843667T>G | CA386493165 | PAH | c.1178A>C (p.Asn393Thr) c.1163A>C (p.Asn388Thr) n.937A>C n.840A>C c.282A>C n.693A>C c.1121A>C (p.Asn374Thr) | |
| 12 | g.102843667T= | CA2059446407 | PAH | c.1178A= (p.Asn393=) c.1163A= (p.Asn388=) n.937A= n.840A= c.282A= n.693A= c.1121A= (p.Asn374=) | |
| 12 | g.102843667_102843668insA | CA16020958 | PAH | c.1177_1178insT (p.Asn393IlefsTer2) c.1162_1163insT (p.Asn388IlefsTer2) n.936_937insT n.839_840insT c.281_282insT n.692_693insT c.1120_1121insT (p.Asn374IlefsTer2) | ClinVar |
| 12 | g.102843668T>A | CA386493166 | PAH | c.1177A>T (p.Asn393Tyr) c.1162A>T (p.Asn388Tyr) n.936A>T n.839A>T c.281A>T n.692A>T c.1120A>T (p.Asn374Tyr) | |
| 12 | g.102843668T>C | CA386493167 | PAH | c.1177A>G (p.Asn393Asp) c.1162A>G (p.Asn388Asp) n.936A>G n.839A>G c.281A>G n.692A>G c.1120A>G (p.Asn374Asp) | |
| 12 | g.102843668T>G | CA6748731 | PAH | c.1177A>C (p.Asn393His) c.1162A>C (p.Asn388His) n.936A>C n.839A>C c.281A>C n.692A>C c.1120A>C (p.Asn374His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843668T= | CA2059446409 | PAH | c.1177A= (p.Asn393=) c.1162A= (p.Asn388=) n.936A= n.839A= c.281A= n.692A= c.1120A= (p.Asn374=) | |
| 12 | g.102843669A>C | CA386493168 | PAH | c.1176T>G (p.Phe392Leu) c.1161T>G (p.Phe387Leu) n.935T>G n.838T>G c.280T>G n.691T>G c.1119T>G (p.Phe373Leu) | |
| 12 | g.102843669A>G | CA481375620 | PAH | c.1176T>C (p.Phe392=) c.1161T>C (p.Phe387=) n.935T>C n.838T>C c.280T>C n.691T>C c.1119T>C (p.Phe373=) | |
| 12 | g.102843669A>T | CA386493169 | PAH | c.1176T>A (p.Phe392Leu) c.1161T>A (p.Phe387Leu) n.935T>A n.838T>A c.280T>A n.691T>A c.1119T>A (p.Phe373Leu) | |
| 12 | g.102843672dup | CA1139768925 | PAH | c.1176dup (p.Asn393Ter) c.1161dup (p.Asn388Ter) n.935dup n.838dup c.280dup n.691dup c.1119dup (p.Asn374Ter) | ClinVar |
| 12 | g.102843670A= | CA2059446411 | PAH | c.1175T= (p.Phe392=) c.1160T= (p.Phe387=) n.934T= n.837T= c.279T= n.690T= c.1118T= (p.Phe373=) | |
| 12 | g.102843670A>C | CA386493170 | PAH | c.1175T>G (p.Phe392Cys) c.1160T>G (p.Phe387Cys) n.934T>G n.837T>G c.279T>G n.690T>G c.1118T>G (p.Phe373Cys) | |
| 12 | g.102843670A>G | CA229369 | PAH | c.1175T>C (p.Phe392Ser) c.1160T>C (p.Phe387Ser) n.934T>C n.837T>C c.279T>C n.690T>C c.1118T>C (p.Phe373Ser) | ClinVar dbSNP |
| 12 | g.102843670A>T | CA386493171 | PAH | c.1175T>A (p.Phe392Tyr) c.1160T>A (p.Phe387Tyr) n.934T>A n.837T>A c.279T>A n.690T>A c.1118T>A (p.Phe373Tyr) | |
| 12 | g.102843671A= | CA2059446413 | PAH | c.1174T= (p.Phe392=) c.1159T= (p.Phe387=) n.933T= n.836T= c.278T= n.689T= c.1117T= (p.Phe373=) | |
| 12 | g.102843671A>C | CA386493172 | PAH | c.1174T>G (p.Phe392Val) c.1159T>G (p.Phe387Val) n.933T>G n.836T>G c.278T>G n.689T>G c.1117T>G (p.Phe373Val) | |
| 12 | g.102843671A>G | CA386493173 | PAH | c.1174T>C (p.Phe392Leu) c.1159T>C (p.Phe387Leu) n.933T>C n.836T>C c.278T>C n.689T>C c.1117T>C (p.Phe373Leu) |