| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | dbSNP dbSNP |
| 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) | ClinVar 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=) | dbSNP |
| 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 dbSNP |
| 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=) | dbSNP |
| 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 dbSNP |
| 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=) | dbSNP |
| 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=) | dbSNP |
| 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 dbSNP |
| 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=) | dbSNP |
| 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=) | dbSNP |
| 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= | CA3194748075 | PAH | c.1170G= (p.Glu390=) c.1155G= (p.Glu385=) n.929G= n.832G= c.274G= n.685G= c.1113G= (p.Glu371=) | dbSNP |