| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102840473G>A | CA200893 | PAH | c.1242C>T (p.Tyr414=) c.1227C>T (p.Tyr409=) n.904C>T c.346C>T n.757C>T c.1185C>T (p.Tyr395=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840473G>C | CA386493054 | PAH | c.1242C>G (p.Tyr414Ter) c.1227C>G (p.Tyr409Ter) n.904C>G c.346C>G n.757C>G c.1185C>G (p.Tyr395Ter) | gnomAD v4 |
| 12 | g.102840473G= | CA2059441798 | PAH | c.1242C= (p.Tyr414=) c.1227C= (p.Tyr409=) n.904C= c.346C= n.757C= c.1185C= (p.Tyr395=) | |
| 12 | g.102840473G>T | CA16020977 | PAH | c.1242C>A (p.Tyr414Ter) c.1227C>A (p.Tyr409Ter) n.904C>A c.346C>A n.757C>A c.1185C>A (p.Tyr395Ter) | ClinVar |
| 12 | g.102840474T>A | CA386493055 | PAH | c.1241A>T (p.Tyr414Phe) c.1226A>T (p.Tyr409Phe) n.903A>T c.345A>T n.756A>T c.1184A>T (p.Tyr395Phe) | |
| 12 | g.102840474T>C | CA114362 | PAH | c.1241A>G (p.Tyr414Cys) c.1226A>G (p.Tyr409Cys) n.903A>G c.345A>G n.756A>G c.1184A>G (p.Tyr395Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840474T>G | CA386493056 | PAH | c.1241A>C (p.Tyr414Ser) c.1226A>C (p.Tyr409Ser) n.903A>C c.345A>C n.756A>C c.1184A>C (p.Tyr395Ser) | |
| 12 | g.102840474T= | CA2059441810 | PAH | c.1241A= (p.Tyr414=) c.1226A= (p.Tyr409=) n.903A= c.345A= n.756A= c.1184A= (p.Tyr395=) | |
| 12 | g.102840474_102840477delinsCAGG | CA2580616845 | PAH | c.1238_1241delinsCCTG (p.Arg413_Tyr414delinsProCys) c.1223_1226delinsCCTG (p.Arg408_Tyr409delinsProCys) n.900_903delinsCCTG c.342_345delinsCCTG n.753_756delinsCCTG c.1181_1184delinsCCTG (p.Arg394_Tyr395delinsProCys) | |
| 12 | g.102840475A= | CA2059441817 | PAH | c.1240T= (p.Tyr414=) c.1225T= (p.Tyr409=) n.902T= c.344T= n.755T= c.1183T= (p.Tyr395=) | |
| 12 | g.102840475A>C | CA386493057 | PAH | c.1240T>G (p.Tyr414Asp) c.1225T>G (p.Tyr409Asp) n.902T>G c.344T>G n.755T>G c.1183T>G (p.Tyr395Asp) | |
| 12 | g.102840475A>G | CA267637 | PAH | c.1240T>C (p.Tyr414His) c.1225T>C (p.Tyr409His) n.902T>C c.344T>C n.755T>C c.1183T>C (p.Tyr395His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840475A>T | CA386493058 | PAH | c.1240T>A (p.Tyr414Asn) c.1225T>A (p.Tyr409Asn) n.902T>A c.344T>A n.755T>A c.1183T>A (p.Tyr395Asn) | |
| 12 | g.102840476G>A | CA481375369 | PAH | c.1239C>T (p.Arg413=) c.1224C>T (p.Arg408=) n.901C>T c.343C>T n.754C>T c.1182C>T (p.Arg394=) | |
| 12 | g.102840476G>C | CA481375370 | PAH | c.1239C>G (p.Arg413=) c.1224C>G (p.Arg408=) n.901C>G c.343C>G n.754C>G c.1182C>G (p.Arg394=) | |
| 12 | g.102840476G>T | CA481375371 | PAH | c.1239C>A (p.Arg413=) c.1224C>A (p.Arg408=) n.901C>A c.343C>A n.754C>A c.1182C>A (p.Arg394=) | |
| 12 | g.102840477C>A | CA386493059 | PAH | c.1238G>T (p.Arg413Leu) c.1223G>T (p.Arg408Leu) n.900G>T c.342G>T n.753G>T c.1181G>T (p.Arg394Leu) | dbSNP gnomAD v4 |
| 12 | g.102840477C= | CA2059441827 | PAH | c.1238G= (p.Arg413=) c.1223G= (p.Arg408=) n.900G= c.342G= n.753G= c.1181G= (p.Arg394=) | |
| 12 | g.102840477C>G | CA229414 | PAH | c.1238G>C (p.Arg413Pro) c.1223G>C (p.Arg408Pro) n.900G>C c.342G>C n.753G>C c.1181G>C (p.Arg394Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102840477C>T | CA6748707 | PAH | c.1238G>A (p.Arg413His) c.1223G>A (p.Arg408His) n.900G>A c.342G>A n.753G>A c.1181G>A (p.Arg394His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102840478G>A | CA229412 | PAH | c.1237C>T (p.Arg413Cys) c.1222C>T (p.Arg408Cys) n.899C>T c.341C>T n.752C>T c.1180C>T (p.Arg394Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102840478G>C | CA16020976 | PAH | c.1237C>G (p.Arg413Gly) c.1222C>G (p.Arg408Gly) n.899C>G c.341C>G n.752C>G c.1180C>G (p.Arg394Gly) | ClinVar dbSNP |
| 12 | g.102840478G= | CA2059441846 | PAH | c.1237C= (p.Arg413=) c.1222C= (p.Arg408=) n.899C= c.341C= n.752C= c.1180C= (p.Arg394=) | |
| 12 | g.102840478G>T | CA229411 | PAH | c.1237C>A (p.Arg413Ser) c.1222C>A (p.Arg408Ser) n.899C>A c.341C>A n.752C>A c.1180C>A (p.Arg394Ser) | ClinVar dbSNP |
| 12 | g.102840479A>C | CA481375372 | PAH | c.1236T>G (p.Val412=) c.1221T>G (p.Val407=) n.898T>G c.340T>G n.751T>G c.1179T>G (p.Val393=) | |
| 12 | g.102840479A>G | CA481375374 | PAH | c.1236T>C (p.Val412=) c.1221T>C (p.Val407=) n.898T>C c.340T>C n.751T>C c.1179T>C (p.Val393=) | |
| 12 | g.102840479A>T | CA481375373 | PAH | c.1236T>A (p.Val412=) c.1221T>A (p.Val407=) n.898T>A c.340T>A n.751T>A c.1179T>A (p.Val393=) | |
| 12 | g.102840480A= | CA2059441865 | PAH | c.1235T= (p.Val412=) c.1220T= (p.Val407=) n.897T= c.339T= n.750T= c.1178T= (p.Val393=) | |
| 12 | g.102840480A>C | CA16020975 | PAH | c.1235T>G (p.Val412Gly) c.1220T>G (p.Val407Gly) n.897T>G c.339T>G n.750T>G c.1178T>G (p.Val393Gly) | ClinVar dbSNP |
| 12 | g.102840480A>G | CA386493060 | PAH | c.1235T>C (p.Val412Ala) c.1220T>C (p.Val407Ala) n.897T>C c.339T>C n.750T>C c.1178T>C (p.Val393Ala) | COSMIC |
| 12 | g.102840480A>T | CA386493061 | PAH | c.1235T>A (p.Val412Asp) c.1220T>A (p.Val407Asp) n.897T>A c.339T>A n.750T>A c.1178T>A (p.Val393Asp) | |
| 12 | g.102840481C>A | CA242743457 | PAH | c.1234G>T (p.Val412Phe) c.1219G>T (p.Val407Phe) n.896G>T c.338G>T n.749G>T c.1177G>T (p.Val393Phe) | dbSNP |
| 12 | g.102840481C= | CA2059441879 | PAH | c.1234G= (p.Val412=) c.1219G= (p.Val407=) n.896G= c.338G= n.749G= c.1177G= (p.Val393=) | |
| 12 | g.102840481C>G | CA386493062 | PAH | c.1234G>C (p.Val412Leu) c.1219G>C (p.Val407Leu) n.896G>C c.338G>C n.749G>C c.1177G>C (p.Val393Leu) | |
| 12 | g.102840481C>T | CA386493063 | PAH | c.1234G>A (p.Val412Ile) c.1219G>A (p.Val407Ile) n.896G>A c.338G>A n.749G>A c.1177G>A (p.Val393Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102840482T>A | CA481375375 | PAH | c.1233A>T (p.Ser411=) c.1218A>T (p.Ser406=) n.895A>T c.337A>T n.748A>T c.1176A>T (p.Ser392=) | |
| 12 | g.102840482T>C | CA481375376 | PAH | c.1233A>G (p.Ser411=) c.1218A>G (p.Ser406=) n.895A>G c.337A>G n.748A>G c.1176A>G (p.Ser392=) | |
| 12 | g.102840482T>G | CA481375377 | PAH | c.1233A>C (p.Ser411=) c.1218A>C (p.Ser406=) n.895A>C c.337A>C n.748A>C c.1176A>C (p.Ser392=) | |
| 12 | g.102840483G>A | CA386493064 | PAH | c.1232C>T (p.Ser411Leu) c.1217C>T (p.Ser406Leu) n.894C>T c.336C>T n.747C>T c.1175C>T (p.Ser392Leu) | |
| 12 | g.102840483G>C | CA16020974 | PAH | c.1232C>G (p.Ser411Ter) c.1217C>G (p.Ser406Ter) n.894C>G c.336C>G n.747C>G c.1175C>G (p.Ser392Ter) | |
| 12 | g.102840483G= | CA2059441893 | PAH | c.1232C= (p.Ser411=) c.1217C= (p.Ser406=) n.894C= c.336C= n.747C= c.1175C= (p.Ser392=) | |
| 12 | g.102840483G>T | CA229409 | PAH | c.1232C>A (p.Ser411Ter) c.1217C>A (p.Ser406Ter) n.894C>A c.336C>A n.747C>A c.1175C>A (p.Ser392Ter) | ClinVar dbSNP |
| 12 | g.102840484A>C | CA386493065 | PAH | c.1231T>G (p.Ser411Ala) c.1216T>G (p.Ser406Ala) n.893T>G c.335T>G n.746T>G c.1174T>G (p.Ser392Ala) | |
| 12 | g.102840484A>G | CA386493066 | PAH | c.1231T>C (p.Ser411Pro) c.1216T>C (p.Ser406Pro) n.893T>C c.335T>C n.746T>C c.1174T>C (p.Ser392Pro) | |
| 12 | g.102840484A>T | CA386493067 | PAH | c.1231T>A (p.Ser411Thr) c.1216T>A (p.Ser406Thr) n.893T>A c.335T>A n.746T>A c.1174T>A (p.Ser392Thr) | |
| 12 | g.102840485G>A | CA481375378 | PAH | c.1230C>T (p.Phe410=) c.1215C>T (p.Phe405=) n.892C>T c.334C>T n.745C>T c.1173C>T (p.Phe391=) | |
| 12 | g.102840485G>C | CA386493068 | PAH | c.1230C>G (p.Phe410Leu) c.1215C>G (p.Phe405Leu) n.892C>G c.334C>G n.745C>G c.1173C>G (p.Phe391Leu) | |
| 12 | g.102840485G>T | CA386493069 | PAH | c.1230C>A (p.Phe410Leu) c.1215C>A (p.Phe405Leu) n.892C>A c.334C>A n.745C>A c.1173C>A (p.Phe391Leu) | |
| 12 | g.102840486A= | CA2059441912 | PAH | c.1229T= (p.Phe410=) c.1214T= (p.Phe405=) n.891T= c.333T= n.744T= c.1172T= (p.Phe391=) | |
| 12 | g.102840486A>C | CA229406 | PAH | c.1229T>G (p.Phe410Cys) c.1214T>G (p.Phe405Cys) n.891T>G c.333T>G n.744T>G c.1172T>G (p.Phe391Cys) | ClinVar dbSNP |