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) | |
| 12 | g.102843671A>T | CA6748732 | PAH | c.1174T>A (p.Phe392Ile) c.1159T>A (p.Phe387Ile) n.933T>A n.836T>A c.278T>A n.689T>A c.1117T>A (p.Phe373Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843672A>C | CA386493174 | PAH | c.1173T>G (p.Ser391Arg) c.1158T>G (p.Ser386Arg) n.932T>G n.835T>G c.277T>G n.688T>G c.1116T>G (p.Ser372Arg) | gnomAD v3 gnomAD v4 |
| 12 | g.102843672A>G | CA481375621 | PAH | c.1173T>C (p.Ser391=) c.1158T>C (p.Ser386=) n.932T>C n.835T>C c.277T>C n.688T>C c.1116T>C (p.Ser372=) | |
| 12 | g.102843672A>T | CA386493175 | PAH | c.1173T>A (p.Ser391Arg) c.1158T>A (p.Ser386Arg) n.932T>A n.835T>A c.277T>A n.688T>A c.1116T>A (p.Ser372Arg) | gnomAD v3 gnomAD v4 |
| 12 | g.102843672_102843674del | CA912973342 | PAH | c.1171_1173del (p.Ser391del) c.1156_1158del (p.Ser386del) n.930_932del n.833_835del c.275_277del n.686_688del c.1114_1116del (p.Ser372del) | |
| 12 | g.102843672_102843674delinsACT | CA2059446414 | PAH | c.1171_1173delinsAGT (p.Ser391=) c.1156_1158delinsAGT (p.Ser386=) n.930_932delinsAGT n.833_835delinsAGT c.275_277delinsAGT n.686_688delinsAGT c.1114_1116delinsAGT (p.Ser372=) | |
| 12 | g.102843673C>A | CA16020957 | PAH | c.1172G>T (p.Ser391Ile) c.1157G>T (p.Ser386Ile) n.931G>T n.834G>T c.276G>T n.687G>T c.1115G>T (p.Ser372Ile) | ClinVar |
| 12 | g.102843673C= | CA2059446424 | PAH | c.1172G= (p.Ser391=) c.1157G= (p.Ser386=) n.931G= n.834G= c.276G= n.687G= c.1115G= (p.Ser372=) | |
| 12 | g.102843673C>G | CA357240 | PAH | c.1172G>C (p.Ser391Thr) c.1157G>C (p.Ser386Thr) n.931G>C n.834G>C c.276G>C n.687G>C c.1115G>C (p.Ser372Thr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843673C>T | CA386493176 | PAH | c.1172G>A (p.Ser391Asn) c.1157G>A (p.Ser386Asn) n.931G>A n.834G>A c.276G>A n.687G>A c.1115G>A (p.Ser372Asn) | |
| 12 | g.102843677_102843678del | CA16020956 | PAH | c.1171_1172del (p.Ser391PhefsTer2) c.1156_1157del (p.Ser386PhefsTer2) n.930_931del n.833_834del c.275_276del n.686_687del c.1114_1115del (p.Ser372PhefsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843674T>A | CA386493177 | PAH | c.1171A>T (p.Ser391Cys) c.1156A>T (p.Ser386Cys) n.930A>T n.833A>T c.275A>T n.686A>T c.1114A>T (p.Ser372Cys) | |
| 12 | g.102843674T>C | CA267630 | PAH | c.1171A>G (p.Ser391Gly) c.1156A>G (p.Ser386Gly) n.930A>G n.833A>G c.275A>G n.686A>G c.1114A>G (p.Ser372Gly) | ClinVar dbSNP |
| 12 | g.102843674T>G | CA386493178 | PAH | c.1171A>C (p.Ser391Arg) c.1156A>C (p.Ser386Arg) n.930A>C n.833A>C c.275A>C n.686A>C c.1114A>C (p.Ser372Arg) | |
| 12 | g.102843674T= | CA2059446429 | PAH | c.1171A= (p.Ser391=) c.1156A= (p.Ser386=) n.930A= n.833A= c.275A= n.686A= c.1114A= (p.Ser372=) | |
| 12 | g.102843674_102843676delinsCCC | CA2695217223 | PAH | c.1169_1171delinsGGG (p.Glu390_Ser391delinsGlyGly) c.1154_1156delinsGGG (p.Glu385_Ser386delinsGlyGly) n.928_930delinsGGG n.831_833delinsGGG c.273_275delinsGGG n.684_686delinsGGG c.1112_1114delinsGGG (p.Glu371_Ser372delinsGlyGly) | |
| 12 | g.102843675C>A | CA386493180 | PAH | c.1170G>T (p.Glu390Asp) c.1155G>T (p.Glu385Asp) n.929G>T n.832G>T c.274G>T n.685G>T c.1113G>T (p.Glu371Asp) | |
| 12 | g.102843675C>G | CA386493179 | PAH | c.1170G>C (p.Glu390Asp) c.1155G>C (p.Glu385Asp) n.929G>C n.832G>C c.274G>C n.685G>C c.1113G>C (p.Glu371Asp) | |
| 12 | g.102843675C>T | CA481375622 | PAH | c.1170G>A (p.Glu390=) c.1155G>A (p.Glu385=) n.929G>A n.832G>A c.274G>A n.685G>A c.1113G>A (p.Glu371=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843676T>A | CA386493181 | PAH | c.1169A>T (p.Glu390Val) c.1154A>T (p.Glu385Val) n.928A>T n.831A>T c.273A>T n.684A>T c.1112A>T (p.Glu371Val) | |
| 12 | g.102843676T>C | CA114367 | PAH | c.1169A>G (p.Glu390Gly) c.1154A>G (p.Glu385Gly) n.928A>G n.831A>G c.273A>G n.684A>G c.1112A>G (p.Glu371Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843676T>G | CA386493182 | PAH | c.1169A>C (p.Glu390Ala) c.1154A>C (p.Glu385Ala) n.928A>C n.831A>C c.273A>C n.684A>C c.1112A>C (p.Glu371Ala) | |
| 12 | g.102843676T= | CA2059446435 | PAH | c.1169A= (p.Glu390=) c.1154A= (p.Glu385=) n.928A= n.831A= c.273A= n.684A= c.1112A= (p.Glu371=) | |
| 12 | g.102843677C>A | CA386493183 | PAH | c.1168G>T (p.Glu390Ter) c.1153G>T (p.Glu385Ter) n.927G>T n.830G>T c.272G>T n.683G>T c.1111G>T (p.Glu371Ter) | gnomAD v4 |
| 12 | g.102843677C>G | CA386493184 | PAH | c.1168G>C (p.Glu390Gln) c.1153G>C (p.Glu385Gln) n.927G>C n.830G>C c.272G>C n.683G>C c.1111G>C (p.Glu371Gln) | gnomAD v4 |
| 12 | g.102843677C>T | CA386493185 | PAH | c.1168G>A (p.Glu390Lys) c.1153G>A (p.Glu385Lys) n.927G>A n.830G>A c.272G>A n.683G>A c.1111G>A (p.Glu371Lys) | |
| 12 | g.102843678T>A | CA481375623 | PAH | c.1167A>T (p.Ala389=) c.1152A>T (p.Ala384=) n.926A>T n.829A>T c.271A>T n.682A>T c.1110A>T (p.Ala370=) | |
| 12 | g.102843678T>C | CA481375624 | PAH | c.1167A>G (p.Ala389=) c.1152A>G (p.Ala384=) n.926A>G n.829A>G c.271A>G n.682A>G c.1110A>G (p.Ala370=) | ClinVar dbSNP |
| 12 | g.102843678T>G | CA481375625 | PAH | c.1167A>C (p.Ala389=) c.1152A>C (p.Ala384=) n.926A>C n.829A>C c.271A>C n.682A>C c.1110A>C (p.Ala370=) | |
| 12 | g.102843678_102843679delinsTG | CA2059446440 | PAH | c.1166_1167delinsCA (p.Ala389=) c.1151_1152delinsCA (p.Ala384=) n.925_926delinsCA n.828_829delinsCA c.270_271delinsCA n.681_682delinsCA c.1109_1110delinsCA (p.Ala370=) | |
| 12 | g.102843679del | CA229368 | PAH | c.1166del (p.Ala389GlufsTer11) c.1151del (p.Ala384GlufsTer11) n.925del n.828del c.270del n.681del c.1109del (p.Ala370GlufsTer11) | ClinVar dbSNP |
| 12 | g.102843679G>A | CA386493186 | PAH | c.1166C>T (p.Ala389Val) c.1151C>T (p.Ala384Val) n.925C>T n.828C>T c.270C>T n.681C>T c.1109C>T (p.Ala370Val) | |
| 12 | g.102843679G>C | CA16020955 | PAH | c.1166C>G (p.Ala389Gly) c.1151C>G (p.Ala384Gly) n.925C>G n.828C>G c.270C>G n.681C>G c.1109C>G (p.Ala370Gly) | ClinVar dbSNP |
| 12 | g.102843679G= | CA2059446447 | PAH | c.1166C= (p.Ala389=) c.1151C= (p.Ala384=) n.925C= n.828C= c.270C= n.681C= c.1109C= (p.Ala370=) | |
| 12 | g.102843679G>T | CA16020954 | PAH | c.1166C>A (p.Ala389Glu) c.1151C>A (p.Ala384Glu) n.925C>A n.828C>A c.270C>A n.681C>A c.1109C>A (p.Ala370Glu) | ClinVar dbSNP |
| 12 | g.102843680C>A | CA386493187 | PAH | c.1165G>T (p.Ala389Ser) c.1150G>T (p.Ala384Ser) n.924G>T n.827G>T c.269G>T n.680G>T c.1108G>T (p.Ala370Ser) | |
| 12 | g.102843680C>G | CA386493188 | PAH | c.1165G>C (p.Ala389Pro) c.1150G>C (p.Ala384Pro) n.924G>C n.827G>C c.269G>C n.680G>C c.1108G>C (p.Ala370Pro) | |
| 12 | g.102843680C>T | CA386493189 | PAH | c.1165G>A (p.Ala389Thr) c.1150G>A (p.Ala384Thr) n.924G>A n.827G>A c.269G>A n.680G>A c.1108G>A (p.Ala370Thr) | gnomAD v4 |
| 12 | g.102843680_102843682delinsCCA | CA2059446455 | PAH | c.1163_1165delinsTGG (p.Val388=) c.1148_1150delinsTGG (p.Val383=) n.922_924delinsTGG n.825_827delinsTGG c.267_269delinsTGG n.678_680delinsTGG c.1106_1108delinsTGG (p.Val369=) | |
| 12 | g.102843681C>A | CA481375627 | PAH | c.1164G>T (p.Val388=) c.1149G>T (p.Val383=) n.923G>T n.826G>T c.268G>T n.679G>T c.1107G>T (p.Val369=) | |
| 12 | g.102843681C>G | CA481375628 | PAH | c.1164G>C (p.Val388=) c.1149G>C (p.Val383=) n.923G>C n.826G>C c.268G>C n.679G>C c.1107G>C (p.Val369=) | ClinVar gnomAD v4 |
| 12 | g.102843681C>T | CA481375629 | PAH | c.1164G>A (p.Val388=) c.1149G>A (p.Val383=) n.923G>A n.826G>A c.268G>A n.679G>A c.1107G>A (p.Val369=) | COSMIC |
| 12 | g.102843682_102843683del | CA229367 | PAH | c.1163_1164del (p.Val388GlyfsTer5) c.1148_1149del (p.Val383GlyfsTer5) n.922_923del n.825_826del c.267_268del n.678_679del c.1106_1107del (p.Val369GlyfsTer5) | ClinVar dbSNP |
| 12 | g.102843682A= | CA2059446462 | PAH | c.1163T= (p.Val388=) c.1148T= (p.Val383=) n.922T= n.825T= c.267T= n.678T= c.1106T= (p.Val369=) | |
| 12 | g.102843682A>C | CA386493190 | PAH | c.1163T>G (p.Val388Gly) c.1148T>G (p.Val383Gly) n.922T>G n.825T>G c.267T>G n.678T>G c.1106T>G (p.Val369Gly) | |
| 12 | g.102843682A>G | CA267628 | PAH | c.1163T>C (p.Val388Ala) c.1148T>C (p.Val383Ala) n.922T>C n.825T>C c.267T>C n.678T>C c.1106T>C (p.Val369Ala) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843682A>T | CA386493191 | PAH | c.1163T>A (p.Val388Glu) c.1148T>A (p.Val383Glu) n.922T>A n.825T>A c.267T>A n.678T>A c.1106T>A (p.Val369Glu) | dbSNP |
| 12 | g.102843683C>A | CA386493192 | PAH | c.1162G>T (p.Val388Leu) c.1147G>T (p.Val383Leu) n.921G>T n.824G>T c.266G>T n.677G>T c.1105G>T (p.Val369Leu) | |
| 12 | g.102843683C= | CA2059446474 | PAH | c.1162G= (p.Val388=) c.1147G= (p.Val383=) n.921G= n.824G= c.266G= n.677G= c.1105G= (p.Val369=) | |
| 12 | g.102843683C>G | CA229366 | PAH | c.1162G>C (p.Val388Leu) c.1147G>C (p.Val383Leu) n.921G>C n.824G>C c.266G>C n.677G>C c.1105G>C (p.Val369Leu) | ClinVar dbSNP |
| 12 | g.102843683C>T | CA251543 | PAH | c.1162G>A (p.Val388Met) c.1147G>A (p.Val383Met) n.921G>A n.824G>A c.266G>A n.677G>A c.1105G>A (p.Val369Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843684G>A | CA6748733 | PAH | c.1161C>T (p.Tyr387=) c.1146C>T (p.Tyr382=) n.920C>T n.823C>T c.265C>T n.676C>T c.1104C>T (p.Tyr368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843684G>C | CA386493193 | PAH | c.1161C>G (p.Tyr387Ter) c.1146C>G (p.Tyr382Ter) n.920C>G n.823C>G c.265C>G n.676C>G c.1104C>G (p.Tyr368Ter) | ClinVar dbSNP |
| 12 | g.102843684G= | CA2059446488 | PAH | c.1161C= (p.Tyr387=) c.1146C= (p.Tyr382=) n.920C= n.823C= c.265C= n.676C= c.1104C= (p.Tyr368=) | |
| 12 | g.102843684G>T | CA16020953 | PAH | c.1161C>A (p.Tyr387Ter) c.1146C>A (p.Tyr382Ter) n.920C>A n.823C>A c.265C>A n.676C>A c.1104C>A (p.Tyr368Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843685T>A | CA386493196 | PAH | c.1160A>T (p.Tyr387Phe) c.1145A>T (p.Tyr382Phe) n.919A>T n.822A>T c.264A>T n.675A>T c.1103A>T (p.Tyr368Phe) | |
| 12 | g.102843685T>C | CA386493194 | PAH | c.1160A>G (p.Tyr387Cys) c.1145A>G (p.Tyr382Cys) n.919A>G n.822A>G c.264A>G n.675A>G c.1103A>G (p.Tyr368Cys) | |
| 12 | g.102843685T>G | CA386493195 | PAH | c.1160A>C (p.Tyr387Ser) c.1145A>C (p.Tyr382Ser) n.919A>C n.822A>C c.264A>C n.675A>C c.1103A>C (p.Tyr368Ser) | |
| 12 | g.102843686A= | CA2059446498 | PAH | c.1159T= (p.Tyr387=) c.1144T= (p.Tyr382=) n.918T= n.821T= c.263T= n.674T= c.1102T= (p.Tyr368=) | |
| 12 | g.102843686A>C | CA16020952 | PAH | c.1159T>G (p.Tyr387Asp) c.1144T>G (p.Tyr382Asp) n.918T>G n.821T>G c.263T>G n.674T>G c.1102T>G (p.Tyr368Asp) | ClinVar dbSNP |
| 12 | g.102843686A>G | CA229363 | PAH | c.1159T>C (p.Tyr387His) c.1144T>C (p.Tyr382His) n.918T>C n.821T>C c.263T>C n.674T>C c.1102T>C (p.Tyr368His) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843686A>T | CA386493197 | PAH | c.1159T>A (p.Tyr387Asn) c.1144T>A (p.Tyr382Asn) n.918T>A n.821T>A c.263T>A n.674T>A c.1102T>A (p.Tyr368Asn) | |
| 12 | g.102843687A>C | CA386493198 | PAH | c.1158T>G (p.Tyr386Ter) c.1143T>G (p.Tyr381Ter) n.917T>G n.820T>G c.262T>G n.673T>G c.1101T>G (p.Tyr367Ter) | |
| 12 | g.102843687A>G | CA481375630 | PAH | c.1158T>C (p.Tyr386=) c.1143T>C (p.Tyr381=) n.917T>C n.820T>C c.262T>C n.673T>C c.1101T>C (p.Tyr367=) | ClinVar dbSNP |
| 12 | g.102843687A>T | CA386493199 | PAH | c.1158T>A (p.Tyr386Ter) c.1143T>A (p.Tyr381Ter) n.917T>A n.820T>A c.262T>A n.673T>A c.1101T>A (p.Tyr367Ter) | |
| 12 | g.102843688del | CA2695217224 | PAH | c.1157del (p.Tyr386PhefsTer14) c.1142del (p.Tyr381PhefsTer14) n.916del n.819del c.261del n.672del c.1100del (p.Tyr367PhefsTer14) | |
| 12 | g.102843688T>A | CA386493201 | PAH | c.1157A>T (p.Tyr386Phe) c.1142A>T (p.Tyr381Phe) n.916A>T n.819A>T c.261A>T n.672A>T c.1100A>T (p.Tyr367Phe) | |
| 12 | g.102843688T>C | CA274152 | PAH | c.1157A>G (p.Tyr386Cys) c.1142A>G (p.Tyr381Cys) n.916A>G n.819A>G c.261A>G n.672A>G c.1100A>G (p.Tyr367Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843688T>G | CA386493200 | PAH | c.1157A>C (p.Tyr386Ser) c.1142A>C (p.Tyr381Ser) n.916A>C n.819A>C c.261A>C n.672A>C c.1100A>C (p.Tyr367Ser) | |
| 12 | g.102843688T= | CA2059446503 | PAH | c.1157A= (p.Tyr386=) c.1142A= (p.Tyr381=) n.916A= n.819A= c.261A= n.672A= c.1100A= (p.Tyr367=) | |
| 12 | g.102843689A= | CA2059446518 | PAH | c.1156T= (p.Tyr386=) c.1141T= (p.Tyr381=) n.915T= n.818T= c.260T= n.671T= c.1099T= (p.Tyr367=) | |
| 12 | g.102843689A>C | CA229361 | PAH | c.1156T>G (p.Tyr386Asp) c.1141T>G (p.Tyr381Asp) n.915T>G n.818T>G c.260T>G n.671T>G c.1099T>G (p.Tyr367Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843689A>G | CA239463 | PAH | c.1156T>C (p.Tyr386His) c.1141T>C (p.Tyr381His) n.915T>C n.818T>C c.260T>C n.671T>C c.1099T>C (p.Tyr367His) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843689A>T | CA386493202 | PAH | c.1156T>A (p.Tyr386Asn) c.1141T>A (p.Tyr381Asn) n.915T>A n.818T>A c.260T>A n.671T>A c.1099T>A (p.Tyr367Asn) | |
| 12 | g.102843689_102843690delinsGC | CA2573147924 | PAH | c.1155_1156delinsGC (p.Tyr386His) c.1140_1141delinsGC (p.Tyr381His) n.914_915delinsGC n.817_818delinsGC c.259_260delinsGC n.670_671delinsGC c.1098_1099delinsGC (p.Tyr367His) | ClinVar dbSNP |
| 12 | g.102843690G>A | CA481375631 | PAH | c.1155C>T (p.Leu385=) c.1140C>T (p.Leu380=) n.914C>T n.817C>T c.259C>T n.670C>T c.1098C>T (p.Leu366=) | dbSNP |
| 12 | g.102843690G>C | CA180265 | PAH | c.1155C>G (p.Leu385=) c.1140C>G (p.Leu380=) n.914C>G n.817C>G c.259C>G n.670C>G c.1098C>G (p.Leu366=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843690G= | CA229360 | PAH | c.1155C= (p.Leu385=) c.1140C= (p.Leu380=) n.914C= n.817C= c.259C= n.670C= c.1098C= (p.Leu366=) | |
| 12 | g.102843690G>T | CA6748734 | PAH | c.1155C>A (p.Leu385=) c.1140C>A (p.Leu380=) n.914C>A n.817C>A c.259C>A n.670C>A c.1098C>A (p.Leu366=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843691A= | CA2059446528 | PAH | c.1154T= (p.Leu385=) c.1139T= (p.Leu380=) n.913T= n.816T= c.258T= n.669T= c.1097T= (p.Leu366=) | |
| 12 | g.102843691A>C | CA386493203 | PAH | c.1154T>G (p.Leu385Arg) c.1139T>G (p.Leu380Arg) n.913T>G n.816T>G c.258T>G n.669T>G c.1097T>G (p.Leu366Arg) | |
| 12 | g.102843691A>G | CA16020951 | PAH | c.1154T>C (p.Leu385Pro) c.1139T>C (p.Leu380Pro) n.913T>C n.816T>C c.258T>C n.669T>C c.1097T>C (p.Leu366Pro) | ClinVar dbSNP COSMIC |
| 12 | g.102843691A>T | CA386493204 | PAH | c.1154T>A (p.Leu385His) c.1139T>A (p.Leu380His) n.913T>A n.816T>A c.258T>A n.669T>A c.1154T>A (p.Leu385Gln) c.1097T>A (p.Leu366His) | COSMIC |
| 12 | g.102843691_102843692delinsAG | CA2059446527 | PAH | c.1153_1154delinsCT (p.Leu385=) c.1138_1139delinsCT (p.Leu380=) n.912_913delinsCT n.815_816delinsCT c.257_258delinsCT n.668_669delinsCT c.1096_1097delinsCT (p.Leu366=) | |
| 12 | g.102843692G>A | CA386493205 | PAH | c.1153C>T (p.Leu385Phe) c.1138C>T (p.Leu380Phe) n.912C>T n.815C>T c.257C>T n.668C>T c.1153C>T (p.Leu385=) c.1096C>T (p.Leu366Phe) | |
| 12 | g.102843692G>C | CA386493206 | PAH | c.1153C>G (p.Leu385Val) c.1138C>G (p.Leu380Val) n.912C>G n.815C>G c.257C>G n.668C>G c.1096C>G (p.Leu366Val) | |
| 12 | g.102843692G>T | CA386493207 | PAH | c.1153C>A (p.Leu385Ile) c.1138C>A (p.Leu380Ile) n.912C>A n.815C>A c.257C>A n.668C>A c.1153C>A (p.Leu385Met) c.1096C>A (p.Leu366Ile) | |
| 12 | g.102843695del | CA891843975 | PAH | c.1153del (p.Leu385SerfsTer15) c.1138del (p.Leu380SerfsTer15) n.912del n.815del c.257del n.668del c.1153del (p.Leu385CysfsTer15) c.1096del (p.Leu366SerfsTer15) | ClinVar dbSNP |
| 12 | g.102843693G>A | CA481375632 | PAH | c.1152C>T (p.Pro384=) c.1137C>T (p.Pro379=) n.911C>T n.814C>T c.256C>T n.667C>T c.1095C>T (p.Pro365=) | |
| 12 | g.102843693G>C | CA267626 | PAH | c.1152C>G (p.Pro384=) c.1137C>G (p.Pro379=) n.911C>G n.814C>G c.256C>G n.667C>G c.1095C>G (p.Pro365=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843693G= | CA2059446540 | PAH | c.1152C= (p.Pro384=) c.1137C= (p.Pro379=) n.911C= n.814C= c.256C= n.667C= c.1095C= (p.Pro365=) | |
| 12 | g.102843693G>T | CA481375633 | PAH | c.1152C>A (p.Pro384=) c.1137C>A (p.Pro379=) n.911C>A n.814C>A c.256C>A n.667C>A c.1095C>A (p.Pro365=) | ClinVar |
| 12 | g.102843694G>A | CA386493208 | PAH | c.1151C>T (p.Pro384Leu) c.1136C>T (p.Pro379Leu) n.910C>T n.813C>T c.255C>T n.666C>T c.1094C>T (p.Pro365Leu) | |
| 12 | g.102843694G>C | CA386493209 | PAH | c.1151C>G (p.Pro384Arg) c.1136C>G (p.Pro379Arg) n.910C>G n.813C>G c.255C>G n.666C>G c.1094C>G (p.Pro365Arg) | |
| 12 | g.102843694G>T | CA386493210 | PAH | c.1151C>A (p.Pro384His) c.1136C>A (p.Pro379His) n.910C>A n.813C>A c.255C>A n.666C>A c.1094C>A (p.Pro365His) | |
| 12 | g.102843695G>A | CA16020950 | PAH | c.1150C>T (p.Pro384Ser) c.1135C>T (p.Pro379Ser) n.909C>T n.812C>T c.254C>T n.665C>T c.1093C>T (p.Pro365Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843695G>C | CA386493211 | PAH | c.1150C>G (p.Pro384Ala) c.1135C>G (p.Pro379Ala) n.909C>G n.812C>G c.254C>G n.665C>G c.1093C>G (p.Pro365Ala) | gnomAD v4 |
| 12 | g.102843695G= | CA2059446545 | PAH | c.1150C= (p.Pro384=) c.1135C= (p.Pro379=) n.909C= n.812C= c.254C= n.665C= c.1093C= (p.Pro365=) | |
| 12 | g.102843695G>T | CA386493212 | PAH | c.1150C>A (p.Pro384Thr) c.1135C>A (p.Pro379Thr) n.909C>A n.812C>A c.254C>A n.665C>A c.1093C>A (p.Pro365Thr) | |
| 12 | g.102843695_102843696delinsGC | CA2059446548 | PAH | c.1149_1150delinsGC (p.Gln383=) c.1134_1135delinsGC (p.Gln378=) n.908_909delinsGC n.811_812delinsGC c.253_254delinsGC n.664_665delinsGC c.1092_1093delinsGC (p.Gln364=) | |
| 12 | g.102843696del | CA1139662837 | PAH | c.1149del (p.Gln383HisfsTer17) c.1134del (p.Gln378HisfsTer17) n.908del n.811del c.253del n.664del c.1092del (p.Gln364HisfsTer17) | ClinVar dbSNP |
| 12 | g.102843696C>A | CA386493213 | PAH | c.1149G>T (p.Gln383His) c.1134G>T (p.Gln378His) n.908G>T n.811G>T c.253G>T n.664G>T c.1092G>T (p.Gln364His) | |
| 12 | g.102843696C>G | CA386493214 | PAH | c.1149G>C (p.Gln383His) c.1134G>C (p.Gln378His) n.908G>C n.811G>C c.253G>C n.664G>C c.1092G>C (p.Gln364His) | |
| 12 | g.102843696C>T | CA481375634 | PAH | c.1149G>A (p.Gln383=) c.1134G>A (p.Gln378=) n.908G>A n.811G>A c.253G>A n.664G>A c.1092G>A (p.Gln364=) | COSMIC |
| 12 | g.102843697T>A | CA386493215 | PAH | c.1148A>T (p.Gln383Leu) c.1133A>T (p.Gln378Leu) n.907A>T n.810A>T c.252A>T n.663A>T c.1091A>T (p.Gln364Leu) | |
| 12 | g.102843697T>C | CA386493217 | PAH | c.1148A>G (p.Gln383Arg) c.1133A>G (p.Gln378Arg) n.907A>G n.810A>G c.252A>G n.663A>G c.1091A>G (p.Gln364Arg) | |
| 12 | g.102843697T>G | CA386493216 | PAH | c.1148A>C (p.Gln383Pro) c.1133A>C (p.Gln378Pro) n.907A>C n.810A>C c.252A>C n.663A>C c.1091A>C (p.Gln364Pro) | |
| 12 | g.102843698G>A | CA16020949 | PAH | c.1147C>T (p.Gln383Ter) c.1132C>T (p.Gln378Ter) n.906C>T n.809C>T c.251C>T n.662C>T c.1090C>T (p.Gln364Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843698G>C | CA386493218 | PAH | c.1147C>G (p.Gln383Glu) c.1132C>G (p.Gln378Glu) n.906C>G n.809C>G c.251C>G n.662C>G c.1090C>G (p.Gln364Glu) | |
| 12 | g.102843698G= | CA2059446555 | PAH | c.1147C= (p.Gln383=) c.1132C= (p.Gln378=) n.906C= n.809C= c.251C= n.662C= c.1090C= (p.Gln364=) | |
| 12 | g.102843698G>T | CA386493219 | PAH | c.1147C>A (p.Gln383Lys) c.1132C>A (p.Gln378Lys) n.906C>A n.809C>A c.251C>A n.662C>A c.1090C>A (p.Gln364Lys) | |
| 12 | g.102843699G>A | CA481375635 | PAH | c.1146C>T (p.Phe382=) c.1131C>T (p.Phe377=) n.905C>T n.808C>T c.250C>T n.661C>T c.1089C>T (p.Phe363=) | |
| 12 | g.102843699G>C | CA16020948 | PAH | c.1146C>G (p.Phe382Leu) c.1131C>G (p.Phe377Leu) n.905C>G n.808C>G c.250C>G n.661C>G c.1089C>G (p.Phe363Leu) | ClinVar dbSNP |
| 12 | g.102843699G= | CA2059446559 | PAH | c.1146C= (p.Phe382=) c.1131C= (p.Phe377=) n.905C= n.808C= c.250C= n.661C= c.1089C= (p.Phe363=) | |
| 12 | g.102843699G>T | CA386493220 | PAH | c.1146C>A (p.Phe382Leu) c.1131C>A (p.Phe377Leu) n.905C>A n.808C>A c.250C>A n.661C>A c.1089C>A (p.Phe363Leu) | gnomAD v4 |
| 12 | g.102843700A>C | CA386493221 | PAH | c.1145T>G (p.Phe382Cys) c.1130T>G (p.Phe377Cys) n.904T>G n.807T>G c.249T>G n.660T>G c.1088T>G (p.Phe363Cys) | |
| 12 | g.102843700A>G | CA386493222 | PAH | c.1145T>C (p.Phe382Ser) c.1130T>C (p.Phe377Ser) n.904T>C n.807T>C c.249T>C n.660T>C c.1088T>C (p.Phe363Ser) | |
| 12 | g.102843700A>T | CA386493223 | PAH | c.1145T>A (p.Phe382Tyr) c.1130T>A (p.Phe377Tyr) n.904T>A n.807T>A c.249T>A n.660T>A c.1088T>A (p.Phe363Tyr) | |
| 12 | g.102843701A= | CA2059446565 | PAH | c.1144T= (p.Phe382=) c.1129T= (p.Phe377=) n.903T= n.806T= c.248T= n.659T= c.1087T= (p.Phe363=) | |
| 12 | g.102843701A>C | CA386493224 | PAH | c.1144T>G (p.Phe382Val) c.1129T>G (p.Phe377Val) n.903T>G n.806T>G c.248T>G n.659T>G c.1087T>G (p.Phe363Val) | |
| 12 | g.102843701A>G | CA386493225 | PAH | c.1144T>C (p.Phe382Leu) c.1129T>C (p.Phe377Leu) n.903T>C n.806T>C c.248T>C n.659T>C c.1087T>C (p.Phe363Leu) | ClinVar dbSNP |
| 12 | g.102843701A>T | CA386493226 | PAH | c.1144T>A (p.Phe382Ile) c.1129T>A (p.Phe377Ile) n.903T>A n.806T>A c.248T>A n.659T>A c.1087T>A (p.Phe363Ile) | |
| 12 | g.102843702C>A | CA386493227 | PAH | c.1143G>T (p.Glu381Asp) c.1128G>T (p.Glu376Asp) n.902G>T n.805G>T c.247G>T n.658G>T c.1086G>T (p.Glu362Asp) | |
| 12 | g.102843702C>G | CA386493228 | PAH | c.1143G>C (p.Glu381Asp) c.1128G>C (p.Glu376Asp) n.902G>C n.805G>C c.247G>C n.658G>C c.1086G>C (p.Glu362Asp) | |
| 12 | g.102843702C>T | CA481375636 | PAH | c.1143G>A (p.Glu381=) c.1128G>A (p.Glu376=) n.902G>A n.805G>A c.247G>A n.658G>A c.1086G>A (p.Glu362=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102843703T>A | CA386493231 | PAH | c.1142A>T (p.Glu381Val) c.1127A>T (p.Glu376Val) n.901A>T n.804A>T c.246A>T n.657A>T c.1085A>T (p.Glu362Val) | |
| 12 | g.102843703T>C | CA386493229 | PAH | c.1142A>G (p.Glu381Gly) c.1127A>G (p.Glu376Gly) n.901A>G n.804A>G c.246A>G n.657A>G c.1085A>G (p.Glu362Gly) | |
| 12 | g.102843703T>G | CA386493230 | PAH | c.1142A>C (p.Glu381Ala) c.1127A>C (p.Glu376Ala) n.901A>C n.804A>C c.246A>C n.657A>C c.1085A>C (p.Glu362Ala) | |
| 12 | g.102843704C>A | CA386493232 | PAH | c.1141G>T (p.Glu381Ter) c.1126G>T (p.Glu376Ter) n.900G>T n.803G>T c.245G>T n.656G>T c.1084G>T (p.Glu362Ter) | |
| 12 | g.102843704C= | CA2059446567 | PAH | c.1141G= (p.Glu381=) c.1126G= (p.Glu376=) n.900G= n.803G= c.245G= n.656G= c.1084G= (p.Glu362=) | |
| 12 | g.102843704C>G | CA386493233 | PAH | c.1141G>C (p.Glu381Gln) c.1126G>C (p.Glu376Gln) n.900G>C n.803G>C c.245G>C n.656G>C c.1084G>C (p.Glu362Gln) | |
| 12 | g.102843704C>T | CA242744229 | PAH | c.1141G>A (p.Glu381Lys) c.1126G>A (p.Glu376Lys) n.900G>A n.803G>A c.245G>A n.656G>A c.1084G>A (p.Glu362Lys) | dbSNP COSMIC |
| 12 | g.102843705C>A | CA6748736 | PAH | c.1140G>T (p.Thr380=) c.1125G>T (p.Thr375=) n.899G>T n.802G>T c.244G>T n.655G>T c.1083G>T (p.Thr361=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843705C= | CA2059446573 | PAH | c.1140G= (p.Thr380=) c.1125G= (p.Thr375=) n.899G= n.802G= c.244G= n.655G= c.1083G= (p.Thr361=) | |
| 12 | g.102843705C>G | CA481375637 | PAH | c.1140G>C (p.Thr380=) c.1125G>C (p.Thr375=) n.899G>C n.802G>C c.244G>C n.655G>C c.1083G>C (p.Thr361=) | |
| 12 | g.102843705C>T | CA6748735 | PAH | c.1140G>A (p.Thr380=) c.1125G>A (p.Thr375=) n.899G>A n.802G>A c.244G>A n.655G>A c.1083G>A (p.Thr361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843706G>A | CA114369 | PAH | c.1139C>T (p.Thr380Met) c.1124C>T (p.Thr375Met) n.898C>T n.801C>T c.243C>T n.654C>T c.1082C>T (p.Thr361Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843706G>C | CA386493234 | PAH | c.1139C>G (p.Thr380Arg) c.1124C>G (p.Thr375Arg) n.898C>G n.801C>G c.243C>G n.654C>G c.1082C>G (p.Thr361Arg) | |
| 12 | g.102843706G= | CA2059446579 | PAH | c.1139C= (p.Thr380=) c.1124C= (p.Thr375=) n.898C= n.801C= c.243C= n.654C= c.1082C= (p.Thr361=) | |
| 12 | g.102843706G>T | CA386493235 | PAH | c.1139C>A (p.Thr380Lys) c.1124C>A (p.Thr375Lys) n.898C>A n.801C>A c.243C>A n.654C>A c.1082C>A (p.Thr361Lys) | |
| 12 | g.102843707_102843708del | CA16020947 | PAH | c.1138_1139del (p.Thr380GlyfsTer13) c.1123_1124del (p.Thr375GlyfsTer13) n.897_898del n.800_801del c.242_243del n.653_654del c.1081_1082del (p.Thr361GlyfsTer13) | |
| 12 | g.102843707del | CA2695217225 | PAH | c.1138del (p.Thr380ArgfsTer20) c.1123del (p.Thr375ArgfsTer20) n.897del n.800del c.242del n.653del c.1081del (p.Thr361ArgfsTer20) | |
| 12 | g.102843707T>A | CA386493236 | PAH | c.1138A>T (p.Thr380Ser) c.1123A>T (p.Thr375Ser) n.897A>T n.800A>T c.242A>T n.653A>T c.1081A>T (p.Thr361Ser) | |
| 12 | g.102843707T>C | CA386493237 | PAH | c.1138A>G (p.Thr380Ala) c.1123A>G (p.Thr375Ala) n.897A>G n.800A>G c.242A>G n.653A>G c.1081A>G (p.Thr361Ala) | |
| 12 | g.102843707T>G | CA386493238 | PAH | c.1138A>C (p.Thr380Pro) c.1123A>C (p.Thr375Pro) n.897A>C n.800A>C c.242A>C n.653A>C c.1081A>C (p.Thr361Pro) | |
| 12 | g.102843708G>A | CA481375638 | PAH | c.1137C>T (p.Val379=) c.1122C>T (p.Val374=) n.896C>T n.799C>T c.241C>T n.652C>T c.1080C>T (p.Val360=) | gnomAD v4 |
| 12 | g.102843708G>C | CA6748737 | PAH | c.1137C>G (p.Val379=) c.1122C>G (p.Val374=) n.896C>G n.799C>G c.241C>G n.652C>G c.1080C>G (p.Val360=) | dbSNP ExAC gnomAD v2 |
| 12 | g.102843708G= | CA2059446587 | PAH | c.1137C= (p.Val379=) c.1122C= (p.Val374=) n.896C= n.799C= c.241C= n.652C= c.1080C= (p.Val360=) | |
| 12 | g.102843708G>T | CA481375639 | PAH | c.1137C>A (p.Val379=) c.1122C>A (p.Val374=) n.896C>A n.799C>A c.241C>A n.652C>A c.1080C>A (p.Val360=) | |
| 12 | g.102843709A= | CA2059446591 | PAH | c.1136T= (p.Val379=) c.1121T= (p.Val374=) n.895T= n.798T= c.240T= n.651T= c.1079T= (p.Val360=) | |
| 12 | g.102843709A>C | CA386493240 | PAH | c.1136T>G (p.Val379Gly) c.1121T>G (p.Val374Gly) n.895T>G n.798T>G c.240T>G n.651T>G c.1079T>G (p.Val360Gly) | |
| 12 | g.102843709A>G | CA6748738 | PAH | c.1136T>C (p.Val379Ala) c.1121T>C (p.Val374Ala) n.895T>C n.798T>C c.240T>C n.651T>C c.1079T>C (p.Val360Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843709A>T | CA386493239 | PAH | c.1136T>A (p.Val379Asp) c.1121T>A (p.Val374Asp) n.895T>A n.798T>A c.240T>A n.651T>A c.1079T>A (p.Val360Asp) | |
| 12 | g.102843710C>A | CA386493241 | PAH | c.1135G>T (p.Val379Phe) c.1120G>T (p.Val374Phe) n.894G>T n.797G>T c.239G>T n.650G>T c.1078G>T (p.Val360Phe) | |
| 12 | g.102843710C= | CA2059446594 | PAH | c.1135G= (p.Val379=) c.1120G= (p.Val374=) n.894G= n.797G= c.239G= n.650G= c.1078G= (p.Val360=) | |
| 12 | g.102843710C>G | CA6748739 | PAH | c.1135G>C (p.Val379Leu) c.1120G>C (p.Val374Leu) n.894G>C n.797G>C c.239G>C n.650G>C c.1078G>C (p.Val360Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843710C>T | CA386493242 | PAH | c.1135G>A (p.Val379Ile) c.1120G>A (p.Val374Ile) n.894G>A n.797G>A c.239G>A n.650G>A c.1078G>A (p.Val360Ile) | |
| 12 | g.102843711A= | CA2059446599 | PAH | c.1134T= (p.Thr378=) c.1119T= (p.Thr373=) n.893T= n.796T= c.238T= n.649T= c.1077T= (p.Thr359=) | |
| 12 | g.102843711A>C | CA481375640 | PAH | c.1134T>G (p.Thr378=) c.1119T>G (p.Thr373=) n.893T>G n.796T>G c.238T>G n.649T>G c.1077T>G (p.Thr359=) | ClinVar dbSNP |
| 12 | g.102843711A>G | CA481375641 | PAH | c.1134T>C (p.Thr378=) c.1119T>C (p.Thr373=) n.893T>C n.796T>C c.238T>C n.649T>C c.1077T>C (p.Thr359=) | ClinVar dbSNP |
| 12 | g.102843711A>T | CA481375642 | PAH | c.1134T>A (p.Thr378=) c.1119T>A (p.Thr373=) n.893T>A n.796T>A c.238T>A n.649T>A c.1077T>A (p.Thr359=) | |
| 12 | g.102843712G>A | CA6748740 | PAH | c.1133C>T (p.Thr378Ile) c.1118C>T (p.Thr373Ile) n.892C>T n.795C>T c.237C>T n.648C>T c.1076C>T (p.Thr359Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843712G>C | CA386493244 | PAH | c.1133C>G (p.Thr378Ser) c.1118C>G (p.Thr373Ser) n.892C>G n.795C>G c.237C>G n.648C>G c.1076C>G (p.Thr359Ser) | |
| 12 | g.102843712G= | CA2059446606 | PAH | c.1133C= (p.Thr378=) c.1118C= (p.Thr373=) n.892C= n.795C= c.237C= n.648C= c.1076C= (p.Thr359=) | |
| 12 | g.102843712G>T | CA386493243 | PAH | c.1133C>A (p.Thr378Asn) c.1118C>A (p.Thr373Asn) n.892C>A n.795C>A c.237C>A n.648C>A c.1076C>A (p.Thr359Asn) | |
| 12 | g.102843714_102843715del | CA2620507197 | PAH | c.1132_1133del (p.Thr378CysfsTer15) c.1117_1118del (p.Thr373CysfsTer15) n.891_892del n.794_795del c.236_237del n.647_648del c.1075_1076del (p.Thr359CysfsTer15) | gnomAD v4 |
| 12 | g.102843713T>A | CA229358 | PAH | c.1132A>T (p.Thr378Ser) c.1117A>T (p.Thr373Ser) n.891A>T n.794A>T c.236A>T n.647A>T c.1075A>T (p.Thr359Ser) | ClinVar dbSNP |
| 12 | g.102843713T>C | CA386493245 | PAH | c.1132A>G (p.Thr378Ala) c.1117A>G (p.Thr373Ala) n.891A>G n.794A>G c.236A>G n.647A>G c.1075A>G (p.Thr359Ala) | gnomAD v4 |
| 12 | g.102843713T>G | CA386493246 | PAH | c.1132A>C (p.Thr378Pro) c.1117A>C (p.Thr373Pro) n.891A>C n.794A>C c.236A>C n.647A>C c.1075A>C (p.Thr359Pro) | |
| 12 | g.102843713T= | CA2059446609 | PAH | c.1132A= (p.Thr378=) c.1117A= (p.Thr373=) n.891A= n.794A= c.236A= n.647A= c.1075A= (p.Thr359=) | |
| 12 | g.102843714G>A | CA481375644 | PAH | c.1131C>T (p.Tyr377=) c.1116C>T (p.Tyr372=) n.890C>T n.793C>T c.235C>T n.646C>T c.1074C>T (p.Tyr358=) | COSMIC |
| 12 | g.102843714G>C | CA386493247 | PAH | c.1131C>G (p.Tyr377Ter) c.1116C>G (p.Tyr372Ter) n.890C>G n.793C>G c.235C>G n.646C>G c.1074C>G (p.Tyr358Ter) | |
| 12 | g.102843714G>T | CA386493248 | PAH | c.1131C>A (p.Tyr377Ter) c.1116C>A (p.Tyr372Ter) n.890C>A n.793C>A c.235C>A n.646C>A c.1074C>A (p.Tyr358Ter) | |
| 12 | g.102843715T>A | CA386493249 | PAH | c.1130A>T (p.Tyr377Phe) c.1115A>T (p.Tyr372Phe) n.889A>T n.792A>T c.234A>T n.645A>T c.1073A>T (p.Tyr358Phe) | |
| 12 | g.102843715T>C | CA229357 | PAH | c.1130A>G (p.Tyr377Cys) c.1115A>G (p.Tyr372Cys) n.889A>G n.792A>G c.234A>G n.645A>G c.1073A>G (p.Tyr358Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843715T>G | CA386493250 | PAH | c.1130A>C (p.Tyr377Ser) c.1115A>C (p.Tyr372Ser) n.889A>C n.792A>C c.234A>C n.645A>C c.1073A>C (p.Tyr358Ser) | |
| 12 | g.102843715T= | CA2059446617 | PAH | c.1130A= (p.Tyr377=) c.1115A= (p.Tyr372=) n.889A= n.792A= c.234A= n.645A= c.1073A= (p.Tyr358=) | |
| 12 | g.102843715_102843716delinsTA | CA2059446614 | PAH | c.1129_1130delinsTA (p.Tyr377=) c.1114_1115delinsTA (p.Tyr372=) n.888_889delinsTA n.791_792delinsTA c.233_234delinsTA n.644_645delinsTA c.1072_1073delinsTA (p.Tyr358=) | |
| 12 | g.102843716A= | CA2059446631 | PAH | c.1129T= (p.Tyr377=) c.1114T= (p.Tyr372=) n.888T= n.791T= c.233T= n.644T= c.1072T= (p.Tyr358=) | |
| 12 | g.102843716A>C | CA16020946 | PAH | c.1129T>G (p.Tyr377Asp) c.1114T>G (p.Tyr372Asp) n.888T>G n.791T>G c.233T>G n.644T>G c.1072T>G (p.Tyr358Asp) | ClinVar dbSNP |
| 12 | g.102843716A>G | CA386493252 | PAH | c.1129T>C (p.Tyr377His) c.1114T>C (p.Tyr372His) n.888T>C n.791T>C c.233T>C n.644T>C c.1072T>C (p.Tyr358His) | |
| 12 | g.102843716A>T | CA386493251 | PAH | c.1129T>A (p.Tyr377Asn) c.1114T>A (p.Tyr372Asn) n.888T>A n.791T>A c.233T>A n.644T>A c.1072T>A (p.Tyr358Asn) | dbSNP |
| 12 | g.102843717del | CA229356 | PAH | c.1129del (p.Tyr377ThrfsTer23) c.1114del (p.Tyr372ThrfsTer23) n.888del n.791del c.233del n.644del c.1072del (p.Tyr358ThrfsTer23) | ClinVar dbSNP |
| 12 | g.102843717A>C | CA386493253 | PAH | c.1128T>G (p.Asn376Lys) c.1113T>G (p.Asn371Lys) n.887T>G n.790T>G c.232T>G n.643T>G c.1071T>G (p.Asn357Lys) | |
| 12 | g.102843717A>G | CA481375645 | PAH | c.1128T>C (p.Asn376=) c.1113T>C (p.Asn371=) n.887T>C n.790T>C c.232T>C n.643T>C c.1071T>C (p.Asn357=) | |
| 12 | g.102843717A>T | CA386493254 | PAH | c.1128T>A (p.Asn376Lys) c.1113T>A (p.Asn371Lys) n.887T>A n.790T>A c.232T>A n.643T>A c.1071T>A (p.Asn357Lys) | |
| 12 | g.102843717_102843718delinsAT | CA2059446635 | PAH | c.1127_1128delinsAT (p.Asn376=) c.1112_1113delinsAT (p.Asn371=) n.886_887delinsAT n.789_790delinsAT c.231_232delinsAT n.642_643delinsAT c.1070_1071delinsAT (p.Asn357=) | |
| 12 | g.102843718T>A | CA386493255 | PAH | c.1127A>T (p.Asn376Ile) c.1112A>T (p.Asn371Ile) n.886A>T n.789A>T c.231A>T n.642A>T c.1070A>T (p.Asn357Ile) | |
| 12 | g.102843718T>C | CA386493256 | PAH | c.1127A>G (p.Asn376Ser) c.1112A>G (p.Asn371Ser) n.886A>G n.789A>G c.231A>G n.642A>G c.1070A>G (p.Asn357Ser) | ClinVar gnomAD v4 |
| 12 | g.102843718T>G | CA386493257 | PAH | c.1127A>C (p.Asn376Thr) c.1112A>C (p.Asn371Thr) n.886A>C n.789A>C c.231A>C n.642A>C c.1070A>C (p.Asn357Thr) | dbSNP |
| 12 | g.102843718T= | CA2059446639 | PAH | c.1127A= (p.Asn376=) c.1112A= (p.Asn371=) n.886A= n.789A= c.231A= n.642A= c.1070A= (p.Asn357=) | |
| 12 | g.102843721del | CA229355 | PAH | c.1127del (p.Asn376IlefsTer24) c.1112del (p.Asn371IlefsTer24) n.886del n.789del c.231del n.642del c.1070del (p.Asn357IlefsTer24) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843719T>A | CA386493258 | PAH | c.1126A>T (p.Asn376Tyr) c.1111A>T (p.Asn371Tyr) n.885A>T n.788A>T c.230A>T n.641A>T c.1069A>T (p.Asn357Tyr) | |
| 12 | g.102843719T>C | CA386493259 | PAH | c.1126A>G (p.Asn376Asp) c.1111A>G (p.Asn371Asp) n.885A>G n.788A>G c.230A>G n.641A>G c.1069A>G (p.Asn357Asp) | |
| 12 | g.102843719T>G | CA386493260 | PAH | c.1126A>C (p.Asn376His) c.1111A>C (p.Asn371His) n.885A>C n.788A>C c.230A>C n.641A>C c.1069A>C (p.Asn357His) | |
| 12 | g.102843720T>A | CA386493261 | PAH | c.1125A>T (p.Gln375His) c.1110A>T (p.Gln370His) n.884A>T n.787A>T c.229A>T n.640A>T c.1068A>T (p.Gln356His) | |
| 12 | g.102843720T>C | CA481375646 | PAH | c.1125A>G (p.Gln375=) c.1110A>G (p.Gln370=) n.884A>G n.787A>G c.229A>G n.640A>G c.1068A>G (p.Gln356=) | |
| 12 | g.102843720T>G | CA386493262 | PAH | c.1125A>C (p.Gln375His) c.1110A>C (p.Gln370His) n.884A>C n.787A>C c.229A>C n.640A>C c.1068A>C (p.Gln356His) | |
| 12 | g.102843721T>A | CA386493264 | PAH | c.1124A>T (p.Gln375Leu) c.1109A>T (p.Gln370Leu) n.883A>T n.786A>T c.228A>T n.639A>T c.1067A>T (p.Gln356Leu) | |
| 12 | g.102843721T>C | CA16020945 | PAH | c.1124A>G (p.Gln375Arg) c.1109A>G (p.Gln370Arg) n.883A>G n.786A>G c.228A>G n.639A>G c.1067A>G (p.Gln356Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102843721T>G | CA386493263 | PAH | c.1124A>C (p.Gln375Pro) c.1109A>C (p.Gln370Pro) n.883A>C n.786A>C c.228A>C n.639A>C c.1067A>C (p.Gln356Pro) | |
| 12 | g.102843721T= | CA2059446644 | PAH | c.1124A= (p.Gln375=) c.1109A= (p.Gln370=) n.883A= n.786A= c.228A= n.639A= c.1067A= (p.Gln356=) | |
| 12 | g.102843722G>A | CA386493265 | PAH | c.1123C>T (p.Gln375Ter) c.1108C>T (p.Gln370Ter) n.882C>T n.785C>T c.227C>T n.638C>T c.1066C>T (p.Gln356Ter) | |
| 12 | g.102843722G>C | CA6748741 | PAH | c.1123C>G (p.Gln375Glu) c.1108C>G (p.Gln370Glu) n.882C>G n.785C>G c.227C>G n.638C>G c.1066C>G (p.Gln356Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843722G= | CA2059446651 | PAH | c.1123C= (p.Gln375=) c.1108C= (p.Gln370=) n.882C= n.785C= c.227C= n.638C= c.1066C= (p.Gln356=) | |
| 12 | g.102843722G>T | CA386493266 | PAH | c.1123C>A (p.Gln375Lys) c.1108C>A (p.Gln370Lys) n.882C>A n.785C>A c.227C>A n.638C>A c.1066C>A (p.Gln356Lys) | |
| 12 | g.102843723G>A | CA481375648 | PAH | c.1122C>T (p.Ile374=) c.1107C>T (p.Ile369=) n.881C>T n.784C>T c.226C>T n.637C>T c.1065C>T (p.Ile355=) | |
| 12 | g.102843723G>C | CA386493267 | PAH | c.1122C>G (p.Ile374Met) c.1107C>G (p.Ile369Met) n.881C>G n.784C>G c.226C>G n.637C>G c.1065C>G (p.Ile355Met) | |
| 12 | g.102843723G>T | CA481375649 | PAH | c.1122C>A (p.Ile374=) c.1107C>A (p.Ile369=) n.881C>A n.784C>A c.226C>A n.637C>A c.1065C>A (p.Ile355=) | |
| 12 | g.102843724A>C | CA386493268 | PAH | c.1121T>G (p.Ile374Ser) c.1106T>G (p.Ile369Ser) n.880T>G n.783T>G c.225T>G n.636T>G c.1064T>G (p.Ile355Ser) | |
| 12 | g.102843724A>G | CA386493269 | PAH | c.1121T>C (p.Ile374Thr) c.1106T>C (p.Ile369Thr) n.880T>C n.783T>C c.225T>C n.636T>C c.1064T>C (p.Ile355Thr) | |
| 12 | g.102843724A>T | CA386493270 | PAH | c.1121T>A (p.Ile374Asn) c.1106T>A (p.Ile369Asn) n.880T>A n.783T>A c.225T>A n.636T>A c.1064T>A (p.Ile355Asn) | |
| 12 | g.102843725del | CA2620507282 | PAH | c.1120del (p.Ile374SerfsTer26) c.1105del (p.Ile369SerfsTer26) n.879del n.782del c.224del n.635del c.1063del (p.Ile355SerfsTer26) | gnomAD v4 |
| 12 | g.102843725T>A | CA242744243 | PAH | c.1120A>T (p.Ile374Phe) c.1105A>T (p.Ile369Phe) n.879A>T n.782A>T c.224A>T n.635A>T c.1063A>T (p.Ile355Phe) | dbSNP |
| 12 | g.102843725T>C | CA6748742 | PAH | c.1120A>G (p.Ile374Val) c.1105A>G (p.Ile369Val) n.879A>G n.782A>G c.224A>G n.635A>G c.1063A>G (p.Ile355Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843725T>G | CA386493271 | PAH | c.1120A>C (p.Ile374Leu) c.1105A>C (p.Ile369Leu) n.879A>C n.782A>C c.224A>C n.635A>C c.1063A>C (p.Ile355Leu) | |
| 12 | g.102843725T= | CA2059446657 | PAH | c.1120A= (p.Ile374=) c.1105A= (p.Ile369=) n.879A= n.782A= c.224A= n.635A= c.1063A= (p.Ile355=) | |
| 12 | g.102843725_102843726insA | CA16020944 | PAH | c.1119_1120insT (p.Ile374TyrfsTer20) c.1104_1105insT (p.Ile369TyrfsTer20) n.878_879insT n.781_782insT c.223_224insT n.634_635insT c.1062_1063insT (p.Ile355TyrfsTer20) | |
| 12 | g.102843726G>A | CA481375651 | PAH | c.1119C>T (p.Ala373=) c.1104C>T (p.Ala368=) n.878C>T n.781C>T c.223C>T n.634C>T c.1062C>T (p.Ala354=) | gnomAD v4 |
| 12 | g.102843726G>C | CA481375654 | PAH | c.1119C>G (p.Ala373=) c.1104C>G (p.Ala368=) n.878C>G n.781C>G c.223C>G n.634C>G c.1062C>G (p.Ala354=) | |
| 12 | g.102843726G>T | CA481375652 | PAH | c.1119C>A (p.Ala373=) c.1104C>A (p.Ala368=) n.878C>A n.781C>A c.223C>A n.634C>A c.1062C>A (p.Ala354=) | |
| 12 | g.102843726_102843728delinsGGC | CA2059446660 | PAH | c.1117_1119delinsGCC (p.Ala373=) c.1102_1104delinsGCC (p.Ala368=) n.876_878delinsGCC n.779_781delinsGCC c.221_223delinsGCC n.632_634delinsGCC c.1060_1062delinsGCC (p.Ala354=) | |
| 12 | g.102843727G>A | CA386493272 | PAH | c.1118C>T (p.Ala373Val) c.1103C>T (p.Ala368Val) n.877C>T n.780C>T c.222C>T n.633C>T c.1061C>T (p.Ala354Val) | COSMIC |
| 12 | g.102843727G>C | CA386493273 | PAH | c.1118C>G (p.Ala373Gly) c.1103C>G (p.Ala368Gly) n.877C>G n.780C>G c.222C>G n.633C>G c.1061C>G (p.Ala354Gly) | |
| 12 | g.102843727G= | CA2059446664 | PAH | c.1118C= (p.Ala373=) c.1103C= (p.Ala368=) n.877C= n.780C= c.222C= n.633C= c.1061C= (p.Ala354=) | |
| 12 | g.102843727G>T | CA16020943 | PAH | c.1118C>A (p.Ala373Asp) c.1103C>A (p.Ala368Asp) n.877C>A n.780C>A c.222C>A n.633C>A c.1061C>A (p.Ala354Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843727_102843728del | CA229353 | PAH | c.1117_1118del (p.Ala373HisfsTer20) c.1102_1103del (p.Ala368HisfsTer20) n.876_877del n.779_780del c.221_222del n.632_633del c.1060_1061del (p.Ala354HisfsTer20) | ClinVar dbSNP |
| 12 | g.102843728C>A | CA386493274 | PAH | c.1117G>T (p.Ala373Ser) c.1102G>T (p.Ala368Ser) n.876G>T n.779G>T c.221G>T n.632G>T c.1060G>T (p.Ala354Ser) | |
| 12 | g.102843728C= | CA2059446668 | PAH | c.1117G= (p.Ala373=) c.1102G= (p.Ala368=) n.876G= n.779G= c.221G= n.632G= c.1060G= (p.Ala354=) | |
| 12 | g.102843728C>G | CA386493275 | PAH | c.1117G>C (p.Ala373Pro) c.1102G>C (p.Ala368Pro) n.876G>C n.779G>C c.221G>C n.632G>C c.1060G>C (p.Ala354Pro) | |
| 12 | g.102843728C>T | CA229351 | PAH | c.1117G>A (p.Ala373Thr) c.1102G>A (p.Ala368Thr) n.876G>A n.779G>A c.221G>A n.632G>A c.1060G>A (p.Ala354Thr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843730_102843736del | CA2580085701 | PAH | c.1111_1117del (p.Lys371ProfsTer27) c.1096_1102del (p.Lys366ProfsTer27) n.870_876del n.773_779del c.215_221del n.626_632del c.1054_1060del (p.Lys352ProfsTer27) | ClinVar gnomAD v4 |
| 12 | g.102843729T>A | CA481375658 | PAH | c.1116A>T (p.Thr372=) c.1101A>T (p.Thr367=) n.875A>T n.778A>T c.220A>T n.631A>T c.1059A>T (p.Thr353=) | |
| 12 | g.102843729T>C | CA481375659 | PAH | c.1116A>G (p.Thr372=) c.1101A>G (p.Thr367=) n.875A>G n.778A>G c.220A>G n.631A>G c.1059A>G (p.Thr353=) | gnomAD v4 |
| 12 | g.102843729T>G | CA481375660 | PAH | c.1116A>C (p.Thr372=) c.1101A>C (p.Thr367=) n.875A>C n.778A>C c.220A>C n.631A>C c.1059A>C (p.Thr353=) | |
| 12 | g.102843730_102843731dup | CA2697551027 | PAH | c.1115_1116dup (p.Ala373GlnfsTer28) c.1100_1101dup (p.Ala368GlnfsTer28) n.874_875dup n.777_778dup c.219_220dup n.630_631dup c.1058_1059dup (p.Ala354GlnfsTer28) | ClinVar |
| 12 | g.102843730G>A | CA386493276 | PAH | c.1115C>T (p.Thr372Ile) c.1100C>T (p.Thr367Ile) n.874C>T n.777C>T c.219C>T n.630C>T c.1058C>T (p.Thr353Ile) | |
| 12 | g.102843730G>C | CA16020942 | PAH | c.1115C>G (p.Thr372Arg) c.1100C>G (p.Thr367Arg) n.874C>G n.777C>G c.219C>G n.630C>G c.1058C>G (p.Thr353Arg) | ClinVar dbSNP |
| 12 | g.102843730G>T | CA386493277 | PAH | c.1115C>A (p.Thr372Lys) c.1100C>A (p.Thr367Lys) n.874C>A n.777C>A c.219C>A n.630C>A c.1058C>A (p.Thr353Lys) | |
| 12 | g.102843731T>A | CA229350 | PAH | c.1114A>T (p.Thr372Ser) c.1099A>T (p.Thr367Ser) n.873A>T n.776A>T c.218A>T n.629A>T c.1057A>T (p.Thr353Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843731T>C | CA386493279 | PAH | c.1114A>G (p.Thr372Ala) c.1099A>G (p.Thr367Ala) n.873A>G n.776A>G c.218A>G n.629A>G c.1057A>G (p.Thr353Ala) | |
| 12 | g.102843731T>G | CA386493278 | PAH | c.1114A>C (p.Thr372Pro) c.1099A>C (p.Thr367Pro) n.873A>C n.776A>C c.218A>C n.629A>C c.1057A>C (p.Thr353Pro) | |
| 12 | g.102843731T= | CA2059446678 | PAH | c.1114A= (p.Thr372=) c.1099A= (p.Thr367=) n.873A= n.776A= c.218A= n.629A= c.1057A= (p.Thr353=) | |
| 12 | g.102843732C>A | CA386493280 | PAH | c.1113G>T (p.Lys371Asn) c.1098G>T (p.Lys366Asn) n.872G>T n.775G>T c.217G>T n.628G>T c.1056G>T (p.Lys352Asn) | COSMIC |
| 12 | g.102843732C>G | CA386493281 | PAH | c.1113G>C (p.Lys371Asn) c.1098G>C (p.Lys366Asn) n.872G>C n.775G>C c.217G>C n.628G>C c.1056G>C (p.Lys352Asn) | |
| 12 | g.102843732C>T | CA481375662 | PAH | c.1113G>A (p.Lys371=) c.1098G>A (p.Lys366=) n.872G>A n.775G>A c.217G>A n.628G>A c.1056G>A (p.Lys352=) | ClinVar gnomAD v4 |
| 12 | g.102843733T>A | CA386493282 | PAH | c.1112A>T (p.Lys371Met) c.1097A>T (p.Lys366Met) n.871A>T n.774A>T c.216A>T n.627A>T c.1055A>T (p.Lys352Met) | |
| 12 | g.102843733T>C | CA229348 | PAH | c.1112A>G (p.Lys371Arg) c.1097A>G (p.Lys366Arg) n.871A>G n.774A>G c.216A>G n.627A>G c.1055A>G (p.Lys352Arg) | ClinVar dbSNP |
| 12 | g.102843733T>G | CA386493283 | PAH | c.1112A>C (p.Lys371Thr) c.1097A>C (p.Lys366Thr) n.871A>C n.774A>C c.216A>C n.627A>C c.1055A>C (p.Lys352Thr) | |
| 12 | g.102843733T= | CA2059446683 | PAH | c.1112A= (p.Lys371=) c.1097A= (p.Lys366=) n.871A= n.774A= c.216A= n.627A= c.1055A= (p.Lys352=) | |
| 12 | g.102843734T>A | CA386493285 | PAH | c.1111A>T (p.Lys371Ter) c.1096A>T (p.Lys366Ter) n.870A>T n.773A>T c.215A>T n.626A>T c.1054A>T (p.Lys352Ter) | ClinVar |
| 12 | g.102843734T>C | CA386493286 | PAH | c.1111A>G (p.Lys371Glu) c.1096A>G (p.Lys366Glu) n.870A>G n.773A>G c.215A>G n.626A>G c.1054A>G (p.Lys352Glu) | |
| 12 | g.102843734T>G | CA386493284 | PAH | c.1111A>C (p.Lys371Gln) c.1096A>C (p.Lys366Gln) n.870A>C n.773A>C c.215A>C n.626A>C c.1054A>C (p.Lys352Gln) | |
| 12 | g.102843735C>A | CA386493288 | PAH | c.1110G>T (p.Glu370Asp) c.1095G>T (p.Glu365Asp) n.869G>T n.772G>T c.214G>T n.625G>T c.1053G>T (p.Glu351Asp) | |
| 12 | g.102843735C>G | CA386493287 | PAH | c.1110G>C (p.Glu370Asp) c.1095G>C (p.Glu365Asp) n.869G>C n.772G>C c.214G>C n.625G>C c.1053G>C (p.Glu351Asp) | |
| 12 | g.102843735C>T | CA481375663 | PAH | c.1110G>A (p.Glu370=) c.1095G>A (p.Glu365=) n.869G>A n.772G>A c.214G>A n.625G>A c.1053G>A (p.Glu351=) | |
| 12 | g.102843736T>A | CA386493289 | PAH | c.1109A>T (p.Glu370Val) c.1094A>T (p.Glu365Val) n.868A>T n.771A>T c.213A>T n.624A>T c.1052A>T (p.Glu351Val) | |
| 12 | g.102843736T>C | CA386493290 | PAH | c.1109A>G (p.Glu370Gly) c.1094A>G (p.Glu365Gly) n.868A>G n.771A>G c.213A>G n.624A>G c.1052A>G (p.Glu351Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102843736T>G | CA386493291 | PAH | c.1109A>C (p.Glu370Ala) c.1094A>C (p.Glu365Ala) n.868A>C n.771A>C c.213A>C n.624A>C c.1052A>C (p.Glu351Ala) | |
| 12 | g.102843736T= | CA2059446687 | PAH | c.1109A= (p.Glu370=) c.1094A= (p.Glu365=) n.868A= n.771A= c.213A= n.624A= c.1052A= (p.Glu351=) | |
| 12 | g.102843737C>A | CA386493292 | PAH | c.1108G>T (p.Glu370Ter) c.1093G>T (p.Glu365Ter) n.867G>T n.770G>T c.212G>T n.623G>T c.1051G>T (p.Glu351Ter) | |
| 12 | g.102843737C>G | CA386493293 | PAH | c.1108G>C (p.Glu370Gln) c.1093G>C (p.Glu365Gln) n.867G>C n.770G>C c.212G>C n.623G>C c.1051G>C (p.Glu351Gln) | |
| 12 | g.102843737C>T | CA386493294 | PAH | c.1108G>A (p.Glu370Lys) c.1093G>A (p.Glu365Lys) n.867G>A n.770G>A c.212G>A n.623G>A c.1051G>A (p.Glu351Lys) | |
| 12 | g.102843738del | CA2582341664 | PAH | c.1108del (p.Glu370ArgfsTer30) c.1093del (p.Glu365ArgfsTer30) n.867del n.770del c.212del n.623del c.1051del (p.Glu351ArgfsTer30) | ClinVar |
| 12 | g.102843738C>A | CA481375664 | PAH | c.1107G>T (p.Leu369=) c.1092G>T (p.Leu364=) n.866G>T n.769G>T c.211G>T n.622G>T c.1050G>T (p.Leu350=) | |
| 12 | g.102843738C>G | CA481375665 | PAH | c.1107G>C (p.Leu369=) c.1092G>C (p.Leu364=) n.866G>C n.769G>C c.211G>C n.622G>C c.1050G>C (p.Leu350=) | |
| 12 | g.102843738C>T | CA481375666 | PAH | c.1107G>A (p.Leu369=) c.1092G>A (p.Leu364=) n.866G>A n.769G>A c.211G>A n.622G>A c.1050G>A (p.Leu350=) | gnomAD v4 |
| 12 | g.102843738_102843753delinsCAGCTCCAGGGGGAGA | CA2059446690 | PAH | c.1092_1107delinsTCTCCCCCTGGAGCTG (p.Leu364=) c.1077_1092delinsTCTCCCCCTGGAGCTG (p.Leu359=) n.851_866delinsTCTCCCCCTGGAGCTG n.754_769delinsTCTCCCCCTGGAGCTG c.196_211delinsTCTCCCCCTGGAGCTG n.607_622delinsTCTCCCCCTGGAGCTG c.1035_1050delinsTCTCCCCCTGGAGCTG (p.Leu345=) | |
| 12 | g.102843739A>C | CA386493295 | PAH | c.1106T>G (p.Leu369Arg) c.1091T>G (p.Leu364Arg) n.865T>G n.768T>G c.210T>G n.621T>G c.1049T>G (p.Leu350Arg) | |
| 12 | g.102843739A>G | CA386493296 | PAH | c.1106T>C (p.Leu369Pro) c.1091T>C (p.Leu364Pro) n.865T>C n.768T>C c.210T>C n.621T>C c.1049T>C (p.Leu350Pro) | |
| 12 | g.102843739A>T | CA386493297 | PAH | c.1106T>A (p.Leu369Gln) c.1091T>A (p.Leu364Gln) n.865T>A n.768T>A c.210T>A n.621T>A c.1049T>A (p.Leu350Gln) | |
| 12 | g.102843739_102843742dup | CA2695217226 | PAH | c.1103_1106dup (p.Glu370AlafsTer25) c.1088_1091dup (p.Glu365AlafsTer25) n.862_865dup n.765_768dup c.207_210dup n.618_621dup c.1046_1049dup (p.Glu351AlafsTer25) | |
| 12 | g.102843743_102843757del | CA229339 | PAH | c.1092_1106del (p.Leu365_Leu369del) c.1077_1091del (p.Leu360_Leu364del) n.851_865del n.754_768del c.196_210del n.607_621del c.1035_1049del (p.Leu346_Leu350del) | ClinVar dbSNP |
| 12 | g.102843740G>A | CA481375667 | PAH | c.1105C>T (p.Leu369=) c.1090C>T (p.Leu364=) n.864C>T n.767C>T c.209C>T n.620C>T c.1048C>T (p.Leu350=) | gnomAD v4 |
| 12 | g.102843740G>C | CA16020941 | PAH | c.1105C>G (p.Leu369Val) c.1090C>G (p.Leu364Val) n.864C>G n.767C>G c.209C>G n.620C>G c.1048C>G (p.Leu350Val) | ClinVar dbSNP |
| 12 | g.102843740G>T | CA386493298 | PAH | c.1105C>A (p.Leu369Met) c.1090C>A (p.Leu364Met) n.864C>A n.767C>A c.209C>A n.620C>A c.1048C>A (p.Leu350Met) | |
| 12 | g.102843741C>A | CA386493300 | PAH | c.1104G>T (p.Glu368Asp) c.1089G>T (p.Glu363Asp) n.863G>T n.766G>T c.208G>T n.619G>T c.1047G>T (p.Glu349Asp) | |
| 12 | g.102843741C>G | CA386493299 | PAH | c.1104G>C (p.Glu368Asp) c.1089G>C (p.Glu363Asp) n.863G>C n.766G>C c.208G>C n.619G>C c.1047G>C (p.Glu349Asp) | |
| 12 | g.102843741C>T | CA481375668 | PAH | c.1104G>A (p.Glu368=) c.1089G>A (p.Glu363=) n.863G>A n.766G>A c.208G>A n.619G>A c.1047G>A (p.Glu349=) | |
| 12 | g.102843742T>A | CA386493301 | PAH | c.1103A>T (p.Glu368Val) c.1088A>T (p.Glu363Val) n.862A>T n.765A>T c.207A>T n.618A>T c.1046A>T (p.Glu349Val) | |
| 12 | g.102843742T>C | CA16020940 | PAH | c.1103A>G (p.Glu368Gly) c.1088A>G (p.Glu363Gly) n.862A>G n.765A>G c.207A>G n.618A>G c.1046A>G (p.Glu349Gly) | ClinVar dbSNP |
| 12 | g.102843742T>G | CA386493302 | PAH | c.1103A>C (p.Glu368Ala) c.1088A>C (p.Glu363Ala) n.862A>C n.765A>C c.207A>C n.618A>C c.1046A>C (p.Glu349Ala) | |
| 12 | g.102843743C>A | CA386493303 | PAH | c.1102G>T (p.Glu368Ter) c.1087G>T (p.Glu363Ter) n.861G>T n.764G>T c.206G>T n.617G>T c.1045G>T (p.Glu349Ter) | |
| 12 | g.102843743C= | CA2059446696 | PAH | c.1102G= (p.Glu368=) c.1087G= (p.Glu363=) n.861G= n.764G= c.206G= n.617G= c.1045G= (p.Glu349=) | |
| 12 | g.102843743C>G | CA386493304 | PAH | c.1102G>C (p.Glu368Gln) c.1087G>C (p.Glu363Gln) n.861G>C n.764G>C c.206G>C n.617G>C c.1045G>C (p.Glu349Gln) | dbSNP |
| 12 | g.102843743C>T | CA386493305 | PAH | c.1102G>A (p.Glu368Lys) c.1087G>A (p.Glu363Lys) n.861G>A n.764G>A c.206G>A n.617G>A c.1045G>A (p.Glu349Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843744C>A | CA481375669 | PAH | c.1101G>T (p.Leu367=) c.1086G>T (p.Leu362=) n.860G>T n.763G>T c.205G>T n.616G>T c.1044G>T (p.Leu348=) | |
| 12 | g.102843744C= | CA2059446704 | PAH | c.1101G= (p.Leu367=) c.1086G= (p.Leu362=) n.860G= n.763G= c.205G= n.616G= c.1044G= (p.Leu348=) | |
| 12 | g.102843744C>G | CA481375670 | PAH | c.1101G>C (p.Leu367=) c.1086G>C (p.Leu362=) n.860G>C n.763G>C c.205G>C n.616G>C c.1044G>C (p.Leu348=) | |
| 12 | g.102843744C>T | CA229346 | PAH | c.1101G>A (p.Leu367=) c.1086G>A (p.Leu362=) n.860G>A n.763G>A c.205G>A n.616G>A c.1044G>A (p.Leu348=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102843745A= | CA2059446713 | PAH | c.1100T= (p.Leu367=) c.1085T= (p.Leu362=) n.859T= n.762T= c.204T= n.615T= c.1043T= (p.Leu348=) | |
| 12 | g.102843745A>C | CA16020939 | PAH | c.1100T>G (p.Leu367Arg) c.1085T>G (p.Leu362Arg) n.859T>G n.762T>G c.204T>G n.615T>G c.1043T>G (p.Leu348Arg) | ClinVar dbSNP |
| 12 | g.102843745A>G | CA229344 | PAH | c.1100T>C (p.Leu367Pro) c.1085T>C (p.Leu362Pro) n.859T>C n.762T>C c.204T>C n.615T>C c.1043T>C (p.Leu348Pro) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843745A>T | CA386493306 | PAH | c.1100T>A (p.Leu367Gln) c.1085T>A (p.Leu362Gln) n.859T>A n.762T>A c.204T>A n.615T>A c.1043T>A (p.Leu348Gln) | |
| 12 | g.102843745_102843746delinsAG | CA2059446711 | PAH | c.1099_1100delinsCT (p.Leu367=) c.1084_1085delinsCT (p.Leu362=) n.858_859delinsCT n.761_762delinsCT c.203_204delinsCT n.614_615delinsCT c.1042_1043delinsCT (p.Leu348=) | |
| 12 | g.102843746G>A | CA481375671 | PAH | c.1099C>T (p.Leu367=) c.1084C>T (p.Leu362=) n.858C>T n.761C>T c.203C>T n.614C>T c.1042C>T (p.Leu348=) | |
| 12 | g.102843746G>C | CA16020938 | PAH | c.1099C>G (p.Leu367Val) c.1084C>G (p.Leu362Val) n.858C>G n.761C>G c.203C>G n.614C>G c.1042C>G (p.Leu348Val) | ClinVar dbSNP |
| 12 | g.102843746G= | CA2059446724 | PAH | c.1099C= (p.Leu367=) c.1084C= (p.Leu362=) n.858C= n.761C= c.203C= n.614C= c.1042C= (p.Leu348=) | |
| 12 | g.102843746G>T | CA386493307 | PAH | c.1099C>A (p.Leu367Met) c.1084C>A (p.Leu362Met) n.858C>A n.761C>A c.203C>A n.614C>A c.1042C>A (p.Leu348Met) | |
| 12 | g.102843750dup | CA229342 | PAH | c.1099dup (p.Leu367ProfsTer27) c.1084dup (p.Leu362ProfsTer27) n.858dup n.761dup c.203dup n.614dup c.1042dup (p.Leu348ProfsTer27) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843750del | CA229343 | PAH | c.1099del (p.Leu367TrpfsTer?) c.1084del (p.Leu362TrpfsTer?) n.858del n.761del c.203del n.614del c.1042del (p.Leu348TrpfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843747G>A | CA481375672 | PAH | c.1098C>T (p.Pro366=) c.1083C>T (p.Pro361=) n.857C>T n.760C>T c.202C>T n.613C>T c.1041C>T (p.Pro347=) | gnomAD v4 COSMIC |
| 12 | g.102843747G>C | CA481375673 | PAH | c.1098C>G (p.Pro366=) c.1083C>G (p.Pro361=) n.857C>G n.760C>G c.202C>G n.613C>G c.1041C>G (p.Pro347=) | ClinVar gnomAD v4 |
| 12 | g.102843747G= | CA2059446746 | PAH | c.1098C= (p.Pro366=) c.1083C= (p.Pro361=) n.857C= n.760C= c.202C= n.613C= c.1041C= (p.Pro347=) | |
| 12 | g.102843747G>T | CA6748743 | PAH | c.1098C>A (p.Pro366=) c.1083C>A (p.Pro361=) n.857C>A n.760C>A c.202C>A n.613C>A c.1041C>A (p.Pro347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843774_102843775insAGGGGAGAAGCTTTGGCTTCTCTGATAAG | CA915946685 | PAH | c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367SerfsTer?) c.1083_1084insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu362SerfsTer?) n.857_858insTCTTATCAGAGAAGCCAAAGCTTCTCCCC n.760_761insTCTTATCAGAGAAGCCAAAGCTTCTCCCC c.202_203insTCTTATCAGAGAAGCCAAAGCTTCTCCCC n.613_614insTCTTATCAGAGAAGCCAAAGCTTCTCCCC c.1041_1042insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu348SerfsTer?) | ClinVar dbSNP |
| 12 | g.102843748G>A | CA386493309 | PAH | c.1097C>T (p.Pro366Leu) c.1082C>T (p.Pro361Leu) n.856C>T n.759C>T c.201C>T n.612C>T c.1040C>T (p.Pro347Leu) | ClinVar dbSNP |
| 12 | g.102843748G>C | CA386493308 | PAH | c.1097C>G (p.Pro366Arg) c.1082C>G (p.Pro361Arg) n.856C>G n.759C>G c.201C>G n.612C>G c.1040C>G (p.Pro347Arg) | |
| 12 | g.102843748G= | CA2059446751 | PAH | c.1097C= (p.Pro366=) c.1082C= (p.Pro361=) n.856C= n.759C= c.201C= n.612C= c.1040C= (p.Pro347=) | |
| 12 | g.102843748G>T | CA229341 | PAH | c.1097C>A (p.Pro366His) c.1082C>A (p.Pro361His) n.856C>A n.759C>A c.201C>A n.612C>A c.1040C>A (p.Pro347His) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843749G>A | CA386493310 | PAH | c.1096C>T (p.Pro366Ser) c.1081C>T (p.Pro361Ser) n.855C>T n.758C>T c.200C>T n.611C>T c.1039C>T (p.Pro347Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843749G>C | CA386493311 | PAH | c.1096C>G (p.Pro366Ala) c.1081C>G (p.Pro361Ala) n.855C>G n.758C>G c.200C>G n.611C>G c.1039C>G (p.Pro347Ala) | ClinVar |
| 12 | g.102843749G>T | CA386493312 | PAH | c.1096C>A (p.Pro366Thr) c.1081C>A (p.Pro361Thr) n.855C>A n.758C>A c.200C>A n.611C>A c.1039C>A (p.Pro347Thr) | |
| 12 | g.102843750G>A | CA481375674 | PAH | c.1095C>T (p.Leu365=) c.1080C>T (p.Leu360=) n.854C>T n.757C>T c.199C>T n.610C>T c.1038C>T (p.Leu346=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843750G>C | CA6748744 | PAH | c.1095C>G (p.Leu365=) c.1080C>G (p.Leu360=) n.854C>G n.757C>G c.199C>G n.610C>G c.1038C>G (p.Leu346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843750G= | CA2059446758 | PAH | c.1095C= (p.Leu365=) c.1080C= (p.Leu360=) n.854C= n.757C= c.199C= n.610C= c.1038C= (p.Leu346=) | |
| 12 | g.102843750G>T | CA481375675 | PAH | c.1095C>A (p.Leu365=) c.1080C>A (p.Leu360=) n.854C>A n.757C>A c.199C>A n.610C>A c.1038C>A (p.Leu346=) | ClinVar gnomAD v4 |
| 12 | g.102843750_102843753delinsGAGA | CA2059446757 | PAH | c.1092_1095delinsTCTC (p.Leu364=) c.1077_1080delinsTCTC (p.Leu359=) n.851_854delinsTCTC n.754_757delinsTCTC c.196_199delinsTCTC n.607_610delinsTCTC c.1035_1038delinsTCTC (p.Leu345=) | |
| 12 | g.102843751A>C | CA386493313 | PAH | c.1094T>G (p.Leu365Arg) c.1079T>G (p.Leu360Arg) n.853T>G n.756T>G c.198T>G n.609T>G c.1037T>G (p.Leu346Arg) | |
| 12 | g.102843751A>G | CA386493314 | PAH | c.1094T>C (p.Leu365Pro) c.1079T>C (p.Leu360Pro) n.853T>C n.756T>C c.198T>C n.609T>C c.1037T>C (p.Leu346Pro) | COSMIC |
| 12 | g.102843751A>T | CA386493315 | PAH | c.1094T>A (p.Leu365His) c.1079T>A (p.Leu360His) n.853T>A n.756T>A c.198T>A n.609T>A c.1037T>A (p.Leu346His) | |
| 12 | g.102843753_102843755del | CA229337 | PAH | c.1092_1094del (p.Leu365del) c.1077_1079del (p.Leu360del) n.851_853del n.754_756del c.196_198del n.607_609del c.1035_1037del (p.Leu346del) | ClinVar dbSNP |
| 12 | g.102843752G>A | CA242744261 | PAH | c.1093C>T (p.Leu365Phe) c.1078C>T (p.Leu360Phe) n.852C>T n.755C>T c.197C>T n.608C>T c.1036C>T (p.Leu346Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843752G>C | CA386493316 | PAH | c.1093C>G (p.Leu365Val) c.1078C>G (p.Leu360Val) n.852C>G n.755C>G c.197C>G n.608C>G c.1036C>G (p.Leu346Val) | |
| 12 | g.102843752G= | CA2059446765 | PAH | c.1093C= (p.Leu365=) c.1078C= (p.Leu360=) n.852C= n.755C= c.197C= n.608C= c.1036C= (p.Leu346=) | |
| 12 | g.102843752G>T | CA386493317 | PAH | c.1093C>A (p.Leu365Ile) c.1078C>A (p.Leu360Ile) n.852C>A n.755C>A c.197C>A n.608C>A c.1036C>A (p.Leu346Ile) | |
| 12 | g.102843753A= | CA2059446769 | PAH | c.1092T= (p.Leu364=) c.1077T= (p.Leu359=) n.851T= n.754T= c.196T= n.607T= c.1035T= (p.Leu345=) | |
| 12 | g.102843753A>C | CA481375676 | PAH | c.1092T>G (p.Leu364=) c.1077T>G (p.Leu359=) n.851T>G n.754T>G c.196T>G n.607T>G c.1035T>G (p.Leu345=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102843753A>G | CA481375677 | PAH | c.1092T>C (p.Leu364=) c.1077T>C (p.Leu359=) n.851T>C n.754T>C c.196T>C n.607T>C c.1035T>C (p.Leu345=) | |
| 12 | g.102843753A>T | CA481375678 | PAH | c.1092T>A (p.Leu364=) c.1077T>A (p.Leu359=) n.851T>A n.754T>A c.196T>A n.607T>A c.1035T>A (p.Leu345=) | |
| 12 | g.102843754A>C | CA386493319 | PAH | c.1091T>G (p.Leu364Arg) c.1076T>G (p.Leu359Arg) n.850T>G n.753T>G c.195T>G n.606T>G c.1034T>G (p.Leu345Arg) | |
| 12 | g.102843754A>G | CA386493320 | PAH | c.1091T>C (p.Leu364Pro) c.1076T>C (p.Leu359Pro) n.850T>C n.753T>C c.195T>C n.606T>C c.1034T>C (p.Leu345Pro) | |
| 12 | g.102843754A>T | CA386493318 | PAH | c.1091T>A (p.Leu364His) c.1076T>A (p.Leu359His) n.850T>A n.753T>A c.195T>A n.606T>A c.1034T>A (p.Leu345His) | |
| 12 | g.102843755G>A | CA386493321 | PAH | c.1090C>T (p.Leu364Phe) c.1075C>T (p.Leu359Phe) n.849C>T n.752C>T c.194C>T n.605C>T c.1033C>T (p.Leu345Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102843755G>C | CA386493322 | PAH | c.1090C>G (p.Leu364Val) c.1075C>G (p.Leu359Val) n.849C>G n.752C>G c.194C>G n.605C>G c.1033C>G (p.Leu345Val) | |
| 12 | g.102843755G= | CA2059446775 | PAH | c.1090C= (p.Leu364=) c.1075C= (p.Leu359=) n.849C= n.752C= c.194C= n.605C= c.1033C= (p.Leu345=) | |
| 12 | g.102843755G>T | CA386493323 | PAH | c.1090C>A (p.Leu364Ile) c.1075C>A (p.Leu359Ile) n.849C>A n.752C>A c.194C>A n.605C>A c.1033C>A (p.Leu345Ile) | |
| 12 | g.102843755_102843756delinsGC | CA2059446772 | PAH | c.1089_1090delinsGC (p.Lys363=) c.1074_1075delinsGC (p.Lys358=) n.848_849delinsGC n.751_752delinsGC c.193_194delinsGC n.604_605delinsGC c.1032_1033delinsGC (p.Lys344=) | |
| 12 | g.102843756del | CA229336 | PAH | c.1089del (p.Lys363AsnfsTer?) c.1074del (p.Lys358AsnfsTer?) n.848del n.751del c.193del n.604del c.1032del (p.Lys344AsnfsTer?) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843756C>A | CA229334 | PAH | c.1089G>T (p.Lys363Asn) c.1074G>T (p.Lys358Asn) n.848G>T n.751G>T c.193G>T n.604G>T c.1032G>T (p.Lys344Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102843756C= | CA2059446786 | PAH | c.1089G= (p.Lys363=) c.1074G= (p.Lys358=) n.848G= n.751G= c.193G= n.604G= c.1032G= (p.Lys344=) | |
| 12 | g.102843756C>G | CA386493324 | PAH | c.1089G>C (p.Lys363Asn) c.1074G>C (p.Lys358Asn) n.848G>C n.751G>C c.193G>C n.604G>C c.1032G>C (p.Lys344Asn) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843756C>T | CA481375679 | PAH | c.1089G>A (p.Lys363=) c.1074G>A (p.Lys358=) n.848G>A n.751G>A c.193G>A n.604G>A c.1032G>A (p.Lys344=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102843756_102843758delinsCTT | CA2059446785 | PAH | c.1087_1089delinsAAG (p.Lys363=) c.1072_1074delinsAAG (p.Lys358=) n.846_848delinsAAG n.749_751delinsAAG c.191_193delinsAAG n.602_604delinsAAG c.1030_1032delinsAAG (p.Lys344=) | |
| 12 | g.102843757T>A | CA386493325 | PAH | c.1088A>T (p.Lys363Met) c.1073A>T (p.Lys358Met) n.847A>T n.750A>T c.192A>T n.603A>T c.1031A>T (p.Lys344Met) | |
| 12 | g.102843757T>C | CA386493327 | PAH | c.1088A>G (p.Lys363Arg) c.1073A>G (p.Lys358Arg) n.847A>G n.750A>G c.192A>G n.603A>G c.1031A>G (p.Lys344Arg) | |
| 12 | g.102843757T>G | CA386493326 | PAH | c.1088A>C (p.Lys363Thr) c.1073A>C (p.Lys358Thr) n.847A>C n.750A>C c.192A>C n.603A>C c.1031A>C (p.Lys344Thr) | |
| 12 | g.102843759del | CA2575266860 | PAH | c.1088del (p.Lys363SerfsTer?) c.1073del (p.Lys358SerfsTer?) n.847del n.750del c.192del n.603del c.1031del (p.Lys344SerfsTer?) | |
| 12 | g.102843758_102843759del | CA229333 | PAH | c.1087_1088del (p.Lys363AlafsTer30) c.1072_1073del (p.Lys358AlafsTer30) n.846_847del n.749_750del c.191_192del n.602_603del c.1030_1031del (p.Lys344AlafsTer30) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843758T>A | CA386493328 | PAH | c.1087A>T (p.Lys363Ter) c.1072A>T (p.Lys358Ter) n.846A>T n.749A>T c.191A>T n.602A>T c.1030A>T (p.Lys344Ter) | ClinVar |
| 12 | g.102843758T>C | CA386493329 | PAH | c.1087A>G (p.Lys363Glu) c.1072A>G (p.Lys358Glu) n.846A>G n.749A>G c.191A>G n.602A>G c.1030A>G (p.Lys344Glu) | |
| 12 | g.102843758T>G | CA386493330 | PAH | c.1087A>C (p.Lys363Gln) c.1072A>C (p.Lys358Gln) n.846A>C n.749A>C c.191A>C n.602A>C c.1030A>C (p.Lys344Gln) | |
| 12 | g.102843759T>A | CA481375680 | PAH | c.1086A>T (p.Pro362=) c.1071A>T (p.Pro357=) n.845A>T n.748A>T c.190A>T n.601A>T c.1029A>T (p.Pro343=) | |
| 12 | g.102843759T>C | CA481375681 | PAH | c.1086A>G (p.Pro362=) c.1071A>G (p.Pro357=) n.845A>G n.748A>G c.190A>G n.601A>G c.1029A>G (p.Pro343=) | |
| 12 | g.102843759T>G | CA481375682 | PAH | c.1086A>C (p.Pro362=) c.1071A>C (p.Pro357=) n.845A>C n.748A>C c.190A>C n.601A>C c.1029A>C (p.Pro343=) | |
| 12 | g.102843760G>A | CA16020937 | PAH | c.1085C>T (p.Pro362Leu) c.1070C>T (p.Pro357Leu) n.844C>T n.747C>T c.189C>T n.600C>T c.1028C>T (p.Pro343Leu) | ClinVar |
| 12 | g.102843760G>C | CA386493332 | PAH | c.1085C>G (p.Pro362Arg) c.1070C>G (p.Pro357Arg) n.844C>G n.747C>G c.189C>G n.600C>G c.1028C>G (p.Pro343Arg) | ClinVar dbSNP |
| 12 | g.102843760G= | CA2059446804 | PAH | c.1085C= (p.Pro362=) c.1070C= (p.Pro357=) n.844C= n.747C= c.189C= n.600C= c.1028C= (p.Pro343=) | |
| 12 | g.102843760G>T | CA386493331 | PAH | c.1085C>A (p.Pro362Gln) c.1070C>A (p.Pro357Gln) n.844C>A n.747C>A c.189C>A n.600C>A c.1028C>A (p.Pro343Gln) | |
| 12 | g.102843761G>A | CA6748745 | PAH | c.1084C>T (p.Pro362Ser) c.1069C>T (p.Pro357Ser) n.843C>T n.746C>T c.188C>T n.599C>T c.1027C>T (p.Pro343Ser) | ClinVar dbSNP ExAC gnomAD v2 |
| 12 | g.102843761G>C | CA386493333 | PAH | c.1084C>G (p.Pro362Ala) c.1069C>G (p.Pro357Ala) n.843C>G n.746C>G c.188C>G n.599C>G c.1027C>G (p.Pro343Ala) | |
| 12 | g.102843761G= | CA2059446815 | PAH | c.1084C= (p.Pro362=) c.1069C= (p.Pro357=) n.843C= n.746C= c.188C= n.599C= c.1027C= (p.Pro343=) | |
| 12 | g.102843761G>T | CA229332 | PAH | c.1084C>A (p.Pro362Thr) c.1069C>A (p.Pro357Thr) n.843C>A n.746C>A c.188C>A n.599C>A c.1027C>A (p.Pro343Thr) | ClinVar dbSNP |