| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102893268_102899867delinsCAGGTGCC | CA229463 | PAH | c.169-4949_352+1467delinsGGCACCTG c.154-4949_337+1467delinsGGCACCTG n.91-4949_274+1467delinsGGCACCTG n.265-4949_448+1467delinsGGCACCTG c.153-4949_336+1467delinsGGCACCTG n.258-4949_441+1467delinsGGCACCTG | ClinVar |
| 12 | g.102893268_102899868delinsCAGGTGCC | CA916084112 | PAH | c.169-4950_352+1467delinsGGCACCTG c.154-4950_337+1467delinsGGCACCTG n.91-4950_274+1467delinsGGCACCTG n.265-4950_448+1467delinsGGCACCTG c.153-4950_336+1467delinsGGCACCTG n.258-4950_441+1467delinsGGCACCTG | |
| 12 | g.102893272_102899867delinsCCTG | CA229465 | PAH | c.169-4949_352+1463delinsCAGG c.154-4949_337+1463delinsCAGG n.91-4949_274+1463delinsCAGG n.265-4949_448+1463delinsCAGG c.153-4949_336+1463delinsCAGG n.258-4949_441+1463delinsCAGG | |
| 12 | g.102894733_102894917delinsACCTGTGTCTTTCTTCTTATCTCGTGAAAGCTCATGGACAGTGGCACCAATGTCATGCCTCAAGATCTTGATGATGTTTGTCAGAGCAGGCAGGCTACGTTTATCCAAATGGGTGAAAAATTCATACTCATCTTTCTTTAAACGAGAAGGTCTAGATTCAATGTGGGTCAGGTTTACATCATTCT | CA2059466529 | PAH | c.170_352+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT c.155_337+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT n.92_274+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT n.266_448+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT c.154_336+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT n.259_441+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT | |
| 12 | g.102894737_102894920del | CA16020769 | PAH | c.170_352+1del c.155_337+1del n.92_274+1del n.266_448+1del c.154_336+1del n.259_441+1del | dbSNP |
| 12 | g.102894756G>A | CA251526 | PAH | c.331C>T (p.Arg111Ter) c.316C>T (p.Arg106Ter) n.253C>T n.427C>T c.315C>T n.420C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102894756G>C | CA386303968 | PAH | c.331C>G (p.Arg111Gly) c.316C>G (p.Arg106Gly) n.253C>G n.427C>G c.315C>G n.420C>G | |
| 12 | g.102894756G= | CA2059466574 | PAH | c.331C= (p.Arg111=) c.316C= (p.Arg106=) n.253C= n.427C= c.315C= n.420C= | |
| 12 | g.102894756G>T | CA481333146 | PAH | c.331C>A (p.Arg111=) c.316C>A (p.Arg106=) n.253C>A n.427C>A c.315C>A n.420C>A | |
| 12 | g.102894757T>A | CA481333147 | PAH | c.330A>T (p.Ser110=) c.315A>T (p.Ser105=) n.252A>T n.426A>T c.314A>T n.419A>T | |
| 12 | g.102894757T>C | CA6748983 | PAH | c.330A>G (p.Ser110=) c.315A>G (p.Ser105=) n.252A>G n.426A>G c.314A>G n.419A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894757T>G | CA481333148 | PAH | c.330A>C (p.Ser110=) c.315A>C (p.Ser105=) n.252A>C n.426A>C c.314A>C n.419A>C | |
| 12 | g.102894757T= | CA2059466579 | PAH | c.330A= (p.Ser110=) c.315A= (p.Ser105=) n.252A= n.426A= c.314A= n.419A= | |
| 12 | g.102894757_102894758delinsTG | CA2059466580 | PAH | c.329_330delinsCA (p.Ser110=) c.314_315delinsCA (p.Ser105=) n.251_252delinsCA n.425_426delinsCA c.313_314delinsCA n.418_419delinsCA | |
| 12 | g.102894758del | CA16041561 | PAH | c.329del (p.Ser110TyrfsTer?) c.314del (p.Ser105TyrfsTer?) n.251del n.425del c.313del n.418del | ClinVar dbSNP |
| 12 | g.102894758G>A | CA229516 | PAH | c.329C>T (p.Ser110Leu) c.314C>T (p.Ser105Leu) n.251C>T n.425C>T c.313C>T n.418C>T | ClinVar dbSNP |
| 12 | g.102894758G>C | CA386303969 | PAH | c.329C>G (p.Ser110Ter) c.314C>G (p.Ser105Ter) n.251C>G n.425C>G c.313C>G n.418C>G | |
| 12 | g.102894758G= | CA2059466585 | PAH | c.329C= (p.Ser110=) c.314C= (p.Ser105=) n.251C= n.425C= c.313C= n.418C= | |
| 12 | g.102894758G>T | CA386303970 | PAH | c.329C>A (p.Ser110Ter) c.314C>A (p.Ser105Ter) n.251C>A n.425C>A c.313C>A n.418C>A | |
| 12 | g.102894758_102894763delinsGAAAGC | CA2059466588 | PAH | c.324_329delinsGCTTTC (p.Glu108=) c.309_314delinsGCTTTC (p.Glu103=) n.246_251delinsGCTTTC n.420_425delinsGCTTTC c.308_313delinsGCTTTC n.413_418delinsGCTTTC | |
| 12 | g.102894759A>C | CA386303971 | PAH | c.328T>G (p.Ser110Ala) c.313T>G (p.Ser105Ala) n.250T>G n.424T>G c.312T>G n.417T>G | |
| 12 | g.102894759A>G | CA386303972 | PAH | c.328T>C (p.Ser110Pro) c.313T>C (p.Ser105Pro) n.250T>C n.424T>C c.312T>C n.417T>C | |
| 12 | g.102894759A>T | CA386303973 | PAH | c.328T>A (p.Ser110Thr) c.313T>A (p.Ser105Thr) n.250T>A n.424T>A c.312T>A n.417T>A | |
| 12 | g.102894759_102894763del | CA16020766 | PAH | c.324_328del (p.Glu108AspfsTer4) c.309_313del (p.Glu103AspfsTer4) n.246_250del n.420_424del c.308_312del n.413_417del | ClinVar dbSNP |
| 12 | g.102894760A= | CA2059466595 | PAH | c.327T= (p.Leu109=) c.312T= (p.Leu104=) n.249T= n.423T= c.311T= n.416T= | |
| 12 | g.102894760A>C | CA481333154 | PAH | c.327T>G (p.Leu109=) c.312T>G (p.Leu104=) n.249T>G n.423T>G c.311T>G n.416T>G | |
| 12 | g.102894760A>G | CA481333151 | PAH | c.327T>C (p.Leu109=) c.312T>C (p.Leu104=) n.249T>C n.423T>C c.311T>C n.416T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102894760A>T | CA481333153 | PAH | c.327T>A (p.Leu109=) c.312T>A (p.Leu104=) n.249T>A n.423T>A c.311T>A n.416T>A | |
| 12 | g.102894761A>C | CA386303976 | PAH | c.326T>G (p.Leu109Arg) c.311T>G (p.Leu104Arg) n.248T>G n.422T>G c.310T>G n.415T>G | |
| 12 | g.102894761A>G | CA386303975 | PAH | c.326T>C (p.Leu109Pro) c.311T>C (p.Leu104Pro) n.248T>C n.422T>C c.310T>C n.415T>C | |
| 12 | g.102894761A>T | CA386303974 | PAH | c.326T>A (p.Leu109His) c.311T>A (p.Leu104His) n.248T>A n.422T>A c.310T>A n.415T>A | |
| 12 | g.102894762G>A | CA386303977 | PAH | c.325C>T (p.Leu109Phe) c.310C>T (p.Leu104Phe) n.247C>T n.421C>T c.309C>T n.414C>T | gnomAD v4 |
| 12 | g.102894762G>C | CA386303978 | PAH | c.325C>G (p.Leu109Val) c.310C>G (p.Leu104Val) n.247C>G n.421C>G c.309C>G n.414C>G | |
| 12 | g.102894762G>T | CA386303979 | PAH | c.325C>A (p.Leu109Ile) c.310C>A (p.Leu104Ile) n.247C>A n.421C>A c.309C>A n.414C>A | gnomAD v4 |
| 12 | g.102894763C>A | CA386303980 | PAH | c.324G>T (p.Glu108Asp) c.309G>T (p.Glu103Asp) n.246G>T n.420G>T c.308G>T n.413G>T | |
| 12 | g.102894763C>G | CA386303981 | PAH | c.324G>C (p.Glu108Asp) c.309G>C (p.Glu103Asp) n.246G>C n.420G>C c.308G>C n.413G>C | |
| 12 | g.102894763C>T | CA481333156 | PAH | c.324G>A (p.Glu108=) c.309G>A (p.Glu103=) n.246G>A n.420G>A c.308G>A n.413G>A | |
| 12 | g.102894764T>A | CA386303982 | PAH | c.323A>T (p.Glu108Val) c.308A>T (p.Glu103Val) n.245A>T n.419A>T c.307A>T n.412A>T | |
| 12 | g.102894764T>C | CA386303983 | PAH | c.323A>G (p.Glu108Gly) c.308A>G (p.Glu103Gly) n.245A>G n.419A>G c.307A>G n.412A>G | COSMIC |
| 12 | g.102894764T>G | CA386303984 | PAH | c.323A>C (p.Glu108Ala) c.308A>C (p.Glu103Ala) n.245A>C n.419A>C c.307A>C n.412A>C | |
| 12 | g.102894765C>A | CA386303985 | PAH | c.322G>T (p.Glu108Ter) c.307G>T (p.Glu103Ter) n.244G>T n.418G>T c.306G>T n.411G>T | |
| 12 | g.102894765C>G | CA386303986 | PAH | c.322G>C (p.Glu108Gln) c.307G>C (p.Glu103Gln) n.244G>C n.418G>C c.306G>C n.411G>C | |
| 12 | g.102894765C>T | CA386303987 | PAH | c.322G>A (p.Glu108Lys) c.307G>A (p.Glu103Lys) n.244G>A n.418G>A c.306G>A n.411G>A | |
| 12 | g.102894766A>C | CA386303988 | PAH | c.321T>G (p.His107Gln) c.306T>G (p.His102Gln) n.243T>G n.417T>G c.305T>G n.410T>G | |
| 12 | g.102894766A>G | CA481333160 | PAH | c.321T>C (p.His107=) c.306T>C (p.His102=) n.243T>C n.417T>C c.305T>C n.410T>C | |
| 12 | g.102894766A>T | CA386303989 | PAH | c.321T>A (p.His107Gln) c.306T>A (p.His102Gln) n.243T>A n.417T>A c.305T>A n.410T>A | |
| 12 | g.102894767T>A | CA386303991 | PAH | c.320A>T (p.His107Leu) c.305A>T (p.His102Leu) n.242A>T n.416A>T c.304A>T n.409A>T | |
| 12 | g.102894767T>C | CA354151 | PAH | c.320A>G (p.His107Arg) c.305A>G (p.His102Arg) n.242A>G n.416A>G c.304A>G n.409A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894767T>G | CA386303990 | PAH | c.320A>C (p.His107Pro) c.305A>C (p.His102Pro) n.242A>C n.416A>C c.304A>C n.409A>C | ClinVar dbSNP |
| 12 | g.102894767T= | CA2059466600 | PAH | c.320A= (p.His107=) c.305A= (p.His102=) n.242A= n.416A= c.304A= n.409A= |