| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102840437A= | CA2059441585 | PAH | c.1278T= (p.Asn426=) c.1263T= (p.Asn421=) n.940T= c.382T= n.793T= c.1221T= (p.Asn407=) | |
| 12 | g.102840437A>C | CA386492987 | PAH | c.1278T>G (p.Asn426Lys) c.1263T>G (p.Asn421Lys) n.940T>G c.382T>G n.793T>G c.1221T>G (p.Asn407Lys) | |
| 12 | g.102840437A>G | CA145978 | PAH | c.1278T>C (p.Asn426=) c.1263T>C (p.Asn421=) n.940T>C c.382T>C n.793T>C c.1221T>C (p.Asn407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840437A>T | CA386492988 | PAH | c.1278T>A (p.Asn426Lys) c.1263T>A (p.Asn421Lys) n.940T>A c.382T>A n.793T>A c.1221T>A (p.Asn407Lys) | |
| 12 | g.102840438T>A | CA386492989 | PAH | c.1277A>T (p.Asn426Ile) c.1262A>T (p.Asn421Ile) n.939A>T c.381A>T n.792A>T c.1220A>T (p.Asn407Ile) | |
| 12 | g.102840438T>C | CA386492990 | PAH | c.1277A>G (p.Asn426Ser) c.1262A>G (p.Asn421Ser) n.939A>G c.381A>G n.792A>G c.1220A>G (p.Asn407Ser) | gnomAD v4 |
| 12 | g.102840438T>G | CA386492991 | PAH | c.1277A>C (p.Asn426Thr) c.1262A>C (p.Asn421Thr) n.939A>C c.381A>C n.792A>C c.1220A>C (p.Asn407Thr) | |
| 12 | g.102840439T>A | CA386492994 | PAH | c.1276A>T (p.Asn426Tyr) c.1261A>T (p.Asn421Tyr) n.938A>T c.380A>T n.791A>T c.1219A>T (p.Asn407Tyr) | |
| 12 | g.102840439T>C | CA386492992 | PAH | c.1276A>G (p.Asn426Asp) c.1261A>G (p.Asn421Asp) n.938A>G c.380A>G n.791A>G c.1219A>G (p.Asn407Asp) | |
| 12 | g.102840439T>G | CA386492993 | PAH | c.1276A>C (p.Asn426His) c.1261A>C (p.Asn421His) n.938A>C c.380A>C n.791A>C c.1219A>C (p.Asn407His) | |
| 12 | g.102840440G>A | CA481375348 | PAH | c.1275C>T (p.Asp425=) c.1260C>T (p.Asp420=) n.937C>T c.379C>T n.790C>T c.1218C>T (p.Asp406=) | |
| 12 | g.102840440G>C | CA386492995 | PAH | c.1275C>G (p.Asp425Glu) c.1260C>G (p.Asp420Glu) n.937C>G c.379C>G n.790C>G c.1218C>G (p.Asp406Glu) | gnomAD v4 |
| 12 | g.102840440G>T | CA386492996 | PAH | c.1275C>A (p.Asp425Glu) c.1260C>A (p.Asp420Glu) n.937C>A c.379C>A n.790C>A c.1218C>A (p.Asp406Glu) | COSMIC |
| 12 | g.102840441T>A | CA386492997 | PAH | c.1274A>T (p.Asp425Val) c.1259A>T (p.Asp420Val) n.936A>T c.378A>T n.789A>T c.1217A>T (p.Asp406Val) | |
| 12 | g.102840441T>C | CA386492998 | PAH | c.1274A>G (p.Asp425Gly) c.1259A>G (p.Asp420Gly) n.936A>G c.378A>G n.789A>G c.1217A>G (p.Asp406Gly) | |
| 12 | g.102840441T>G | CA386492999 | PAH | c.1274A>C (p.Asp425Ala) c.1259A>C (p.Asp420Ala) n.936A>C c.378A>C n.789A>C c.1217A>C (p.Asp406Ala) | |
| 12 | g.102840442C>A | CA386493000 | PAH | c.1273G>T (p.Asp425Tyr) c.1258G>T (p.Asp420Tyr) n.935G>T c.377G>T n.788G>T c.1216G>T (p.Asp406Tyr) | |
| 12 | g.102840442C= | CA2059441594 | PAH | c.1273G= (p.Asp425=) c.1258G= (p.Asp420=) n.935G= c.377G= n.788G= c.1216G= (p.Asp406=) | |
| 12 | g.102840442C>G | CA386493002 | PAH | c.1273G>C (p.Asp425His) c.1258G>C (p.Asp420His) n.935G>C c.377G>C n.788G>C c.1216G>C (p.Asp406His) | |
| 12 | g.102840442C>T | CA386493001 | PAH | c.1273G>A (p.Asp425Asn) c.1258G>A (p.Asp420Asn) n.935G>A c.377G>A n.788G>A c.1216G>A (p.Asp406Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840443C>A | CA386493003 | PAH | c.1272G>T (p.Leu424Phe) c.1257G>T (p.Leu419Phe) n.934G>T c.376G>T n.787G>T c.1215G>T (p.Leu405Phe) | |
| 12 | g.102840443C>G | CA386493004 | PAH | c.1272G>C (p.Leu424Phe) c.1257G>C (p.Leu419Phe) n.934G>C c.376G>C n.787G>C c.1215G>C (p.Leu405Phe) | |
| 12 | g.102840443C>T | CA481375349 | PAH | c.1272G>A (p.Leu424=) c.1257G>A (p.Leu419=) n.934G>A c.376G>A n.787G>A c.1215G>A (p.Leu405=) | |
| 12 | g.102840444A= | CA2059441609 | PAH | c.1271T= (p.Leu424=) c.1256T= (p.Leu419=) n.933T= c.375T= n.786T= c.1214T= (p.Leu405=) | |
| 12 | g.102840444A>C | CA386493005 | PAH | c.1271T>G (p.Leu424Trp) c.1256T>G (p.Leu419Trp) n.933T>G c.375T>G n.786T>G c.1214T>G (p.Leu405Trp) | |
| 12 | g.102840444A>G | CA229424 | PAH | c.1271T>C (p.Leu424Ser) c.1256T>C (p.Leu419Ser) n.933T>C c.375T>C n.786T>C c.1214T>C (p.Leu405Ser) | ClinVar dbSNP |
| 12 | g.102840444A>T | CA16020988 | PAH | c.1271T>A (p.Leu424Ter) c.1256T>A (p.Leu419Ter) n.933T>A c.375T>A n.786T>A c.1214T>A (p.Leu405Ter) | ClinVar dbSNP |
| 12 | g.102840445A= | CA2059441621 | PAH | c.1270T= (p.Leu424=) c.1255T= (p.Leu419=) n.932T= c.374T= n.785T= c.1213T= (p.Leu405=) | |
| 12 | g.102840445A>C | CA386493006 | PAH | c.1270T>G (p.Leu424Val) c.1255T>G (p.Leu419Val) n.932T>G c.374T>G n.785T>G c.1213T>G (p.Leu405Val) | dbSNP gnomAD v4 |
| 12 | g.102840445A>G | CA242743432 | PAH | c.1270T>C (p.Leu424=) c.1255T>C (p.Leu419=) n.932T>C c.374T>C n.785T>C c.1213T>C (p.Leu405=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840445A>T | CA386493007 | PAH | c.1270T>A (p.Leu424Met) c.1255T>A (p.Leu419Met) n.932T>A c.374T>A n.785T>A c.1213T>A (p.Leu405Met) | |
| 12 | g.102840446del | CA16020987 | PAH | c.1269del (p.Leu424TrpfsTer28) c.1254del (p.Leu419TrpfsTer28) n.931del c.373del n.784del c.1212del (p.Leu405TrpfsTer28) | |
| 12 | g.102840446G>A | CA481375350 | PAH | c.1269C>T (p.Val423=) c.1254C>T (p.Val418=) n.931C>T c.373C>T n.784C>T c.1212C>T (p.Val404=) | |
| 12 | g.102840446G>C | CA481375351 | PAH | c.1269C>G (p.Val423=) c.1254C>G (p.Val418=) n.931C>G c.373C>G n.784C>G c.1212C>G (p.Val404=) | |
| 12 | g.102840446G>T | CA481375352 | PAH | c.1269C>A (p.Val423=) c.1254C>A (p.Val418=) n.931C>A c.373C>A n.784C>A c.1212C>A (p.Val404=) | |
| 12 | g.102840447A>C | CA386493008 | PAH | c.1268T>G (p.Val423Gly) c.1253T>G (p.Val418Gly) n.930T>G c.372T>G n.783T>G c.1211T>G (p.Val404Gly) | |
| 12 | g.102840447A>G | CA386493009 | PAH | c.1268T>C (p.Val423Ala) c.1253T>C (p.Val418Ala) n.930T>C c.372T>C n.783T>C c.1211T>C (p.Val404Ala) | COSMIC |
| 12 | g.102840447A>T | CA386493010 | PAH | c.1268T>A (p.Val423Asp) c.1253T>A (p.Val418Asp) n.930T>A c.372T>A n.783T>A c.1211T>A (p.Val404Asp) | |
| 12 | g.102840448C>A | CA386493013 | PAH | c.1267G>T (p.Val423Phe) c.1252G>T (p.Val418Phe) n.929G>T c.371G>T n.782G>T c.1210G>T (p.Val404Phe) | |
| 12 | g.102840448C= | CA2059441631 | PAH | c.1267G= (p.Val423=) c.1252G= (p.Val418=) n.929G= c.371G= n.782G= c.1210G= (p.Val404=) | |
| 12 | g.102840448C>G | CA386493012 | PAH | c.1267G>C (p.Val423Leu) c.1252G>C (p.Val418Leu) n.929G>C c.371G>C n.782G>C c.1210G>C (p.Val404Leu) | |
| 12 | g.102840448C>T | CA386493011 | PAH | c.1267G>A (p.Val423Ile) c.1252G>A (p.Val418Ile) n.929G>A c.371G>A n.782G>A c.1210G>A (p.Val404Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840449C>A | CA386493014 | PAH | c.1266G>T (p.Glu422Asp) c.1251G>T (p.Glu417Asp) n.928G>T c.370G>T n.781G>T c.1209G>T (p.Glu403Asp) | |
| 12 | g.102840449C>G | CA386493015 | PAH | c.1266G>C (p.Glu422Asp) c.1251G>C (p.Glu417Asp) n.928G>C c.370G>C n.781G>C c.1209G>C (p.Glu403Asp) | |
| 12 | g.102840449C>T | CA481375355 | PAH | c.1266G>A (p.Glu422=) c.1251G>A (p.Glu417=) n.928G>A c.370G>A n.781G>A c.1209G>A (p.Glu403=) | ClinVar |
| 12 | g.102840450T>A | CA386493016 | PAH | c.1265A>T (p.Glu422Val) c.1250A>T (p.Glu417Val) n.927A>T c.369A>T n.780A>T c.1208A>T (p.Glu403Val) | |
| 12 | g.102840450T>C | CA386493017 | PAH | c.1265A>G (p.Glu422Gly) c.1250A>G (p.Glu417Gly) n.927A>G c.369A>G n.780A>G c.1208A>G (p.Glu403Gly) | |
| 12 | g.102840450T>G | CA386493018 | PAH | c.1265A>C (p.Glu422Ala) c.1250A>C (p.Glu417Ala) n.927A>C c.369A>C n.780A>C c.1208A>C (p.Glu403Ala) | dbSNP |
| 12 | g.102840450T= | CA2059441633 | PAH | c.1265A= (p.Glu422=) c.1250A= (p.Glu417=) n.927A= c.369A= n.780A= c.1208A= (p.Glu403=) | |
| 12 | g.102840451C>A | CA386493019 | PAH | c.1264G>T (p.Glu422Ter) c.1249G>T (p.Glu417Ter) n.926G>T c.368G>T n.779G>T c.1207G>T (p.Glu403Ter) |