| 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.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= | |
| 12 | g.102894768G>A | CA386303992 | PAH | c.319C>T (p.His107Tyr) c.304C>T (p.His102Tyr) n.241C>T n.415C>T c.303C>T n.408C>T | |
| 12 | g.102894768G>C | CA386303993 | PAH | c.319C>G (p.His107Asp) c.304C>G (p.His102Asp) n.241C>G n.415C>G c.303C>G n.408C>G | |
| 12 | g.102894768G>T | CA386303994 | PAH | c.319C>A (p.His107Asn) c.304C>A (p.His102Asn) n.241C>A n.415C>A c.303C>A n.408C>A | |
| 12 | g.102894768_102894777delinsGGACAGTGGC | CA2059466607 | PAH | c.310_319delinsGCCACTGTCC (p.Ala104=) c.295_304delinsGCCACTGTCC (p.Ala99=) n.232_241delinsGCCACTGTCC n.406_415delinsGCCACTGTCC c.294_303delinsGCCACTGTCC n.399_408delinsGCCACTGTCC | |
| 12 | g.102894769G>A | CA481333164 | PAH | c.318C>T (p.Val106=) c.303C>T (p.Val101=) n.240C>T n.414C>T c.302C>T n.407C>T | |
| 12 | g.102894769G>C | CA481333165 | PAH | c.318C>G (p.Val106=) c.303C>G (p.Val101=) n.240C>G n.414C>G c.302C>G n.407C>G | |
| 12 | g.102894769G>T | CA481333163 | PAH | c.318C>A (p.Val106=) c.303C>A (p.Val101=) n.240C>A n.414C>A c.302C>A n.407C>A | |
| 12 | g.102894769_102894777del | CA220580 | PAH | c.310_318del (p.Ala104_Val106del) c.295_303del (p.Ala99_Val101del) n.232_240del n.406_414del c.294_302del n.399_407del | ClinVar dbSNP ExAC gnomAD v2 |
| 12 | g.102894770A>C | CA386303995 | PAH | c.317T>G (p.Val106Gly) c.302T>G (p.Val101Gly) n.239T>G n.413T>G c.301T>G n.406T>G | |
| 12 | g.102894770A>G | CA16020765 | PAH | c.317T>C (p.Val106Ala) c.302T>C (p.Val101Ala) n.239T>C n.413T>C c.301T>C n.406T>C | |
| 12 | g.102894770A>T | CA386303996 | PAH | c.317T>A (p.Val106Asp) c.302T>A (p.Val101Asp) n.239T>A n.413T>A c.301T>A n.406T>A | gnomAD v4 |
| 12 | g.102894771C>A | CA386303997 | PAH | c.316G>T (p.Val106Phe) c.301G>T (p.Val101Phe) n.238G>T n.412G>T c.300G>T n.405G>T | |
| 12 | g.102894771C= | CA2059466612 | PAH | c.316G= (p.Val106=) c.301G= (p.Val101=) n.238G= n.412G= c.300G= n.405G= | |
| 12 | g.102894771C>G | CA386303998 | PAH | c.316G>C (p.Val106Leu) c.301G>C (p.Val101Leu) n.238G>C n.412G>C c.300G>C n.405G>C | |
| 12 | g.102894771C>T | CA386303999 | PAH | c.316G>A (p.Val106Ile) c.301G>A (p.Val101Ile) n.238G>A n.412G>A c.300G>A n.405G>A | dbSNP gnomAD v4 |
| 12 | g.102894772A>C | CA481333167 | PAH | c.315T>G (p.Thr105=) c.300T>G (p.Thr100=) n.237T>G n.411T>G c.299T>G n.404T>G | |
| 12 | g.102894772A>G | CA481333168 | PAH | c.315T>C (p.Thr105=) c.300T>C (p.Thr100=) n.237T>C n.411T>C c.299T>C n.404T>C | |
| 12 | g.102894772A>T | CA481333169 | PAH | c.315T>A (p.Thr105=) c.300T>A (p.Thr100=) n.237T>A n.411T>A c.299T>A n.404T>A | |
| 12 | g.102894773G>A | CA386304000 | PAH | c.314C>T (p.Thr105Ile) c.299C>T (p.Thr100Ile) n.236C>T n.410C>T c.298C>T n.403C>T | |
| 12 | g.102894773G>C | CA386304001 | PAH | c.314C>G (p.Thr105Ser) c.299C>G (p.Thr100Ser) n.236C>G n.410C>G c.298C>G n.403C>G | |
| 12 | g.102894773G>T | CA386304002 | PAH | c.314C>A (p.Thr105Asn) c.299C>A (p.Thr100Asn) n.236C>A n.410C>A c.298C>A n.403C>A | |
| 12 | g.102894774T>A | CA386304005 | PAH | c.313A>T (p.Thr105Ser) c.298A>T (p.Thr100Ser) n.235A>T n.409A>T c.297A>T n.402A>T | |
| 12 | g.102894774T>C | CA386304004 | PAH | c.313A>G (p.Thr105Ala) c.298A>G (p.Thr100Ala) n.235A>G n.409A>G c.297A>G n.402A>G | |
| 12 | g.102894774T>G | CA386304003 | PAH | c.313A>C (p.Thr105Pro) c.298A>C (p.Thr100Pro) n.235A>C n.409A>C c.297A>C n.402A>C | |
| 12 | g.102894775G>A | CA481333171 | PAH | c.312C>T (p.Ala104=) c.297C>T (p.Ala99=) n.234C>T n.408C>T c.296C>T n.401C>T | ClinVar |
| 12 | g.102894775G>C | CA481333172 | PAH | c.312C>G (p.Ala104=) c.297C>G (p.Ala99=) n.234C>G n.408C>G c.296C>G n.401C>G | |
| 12 | g.102894775G>T | CA481333173 | PAH | c.312C>A (p.Ala104=) c.297C>A (p.Ala99=) n.234C>A n.408C>A c.296C>A n.401C>A | |
| 12 | g.102894776G>A | CA386304006 | PAH | c.311C>T (p.Ala104Val) c.296C>T (p.Ala99Val) n.233C>T n.407C>T c.295C>T n.400C>T | ClinVar |
| 12 | g.102894776G>C | CA386304007 | PAH | c.311C>G (p.Ala104Gly) c.296C>G (p.Ala99Gly) n.233C>G n.407C>G c.295C>G n.400C>G | |
| 12 | g.102894776G= | CA2059466619 | PAH | c.311C= (p.Ala104=) c.296C= (p.Ala99=) n.233C= n.407C= c.295C= n.400C= | |
| 12 | g.102894776G>T | CA229515 | PAH | c.311C>A (p.Ala104Asp) c.296C>A (p.Ala99Asp) n.233C>A n.407C>A c.295C>A n.400C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894777C>A | CA386304008 | PAH | c.310G>T (p.Ala104Ser) c.295G>T (p.Ala99Ser) n.232G>T n.406G>T c.294G>T n.399G>T | dbSNP |
| 12 | g.102894777C>G | CA386304009 | PAH | c.310G>C (p.Ala104Pro) c.295G>C (p.Ala99Pro) n.232G>C n.406G>C c.294G>C n.399G>C | |
| 12 | g.102894777C>T | CA386304010 | PAH | c.310G>A (p.Ala104Thr) c.295G>A (p.Ala99Thr) n.232G>A n.406G>A c.294G>A n.399G>A | |
| 12 | g.102894778A>C | CA481333175 | PAH | c.309T>G (p.Gly103=) c.294T>G (p.Gly98=) n.231T>G n.405T>G c.293T>G n.398T>G | ClinVar dbSNP |
| 12 | g.102894778A>G | CA481333176 | PAH | c.309T>C (p.Gly103=) c.294T>C (p.Gly98=) n.231T>C n.405T>C c.293T>C n.398T>C | |
| 12 | g.102894778A>T | CA481333177 | PAH | c.309T>A (p.Gly103=) c.294T>A (p.Gly98=) n.231T>A n.405T>A c.293T>A n.398T>A | |
| 12 | g.102894779C>A | CA386304011 | PAH | c.308G>T (p.Gly103Val) c.293G>T (p.Gly98Val) n.230G>T n.404G>T c.292G>T n.397G>T | |
| 12 | g.102894779C>G | CA386304012 | PAH | c.308G>C (p.Gly103Ala) c.293G>C (p.Gly98Ala) n.230G>C n.404G>C c.292G>C n.397G>C | |
| 12 | g.102894779C>T | CA16020764 | PAH | c.308G>A (p.Gly103Asp) c.293G>A (p.Gly98Asp) n.230G>A n.404G>A c.292G>A n.397G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102894780C>A | CA6748984 | PAH | c.307G>T (p.Gly103Cys) c.292G>T (p.Gly98Cys) n.229G>T n.403G>T c.291G>T n.396G>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |