| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102851253_102856067del | CA916084430 | PAH | c.510-735_912+434del c.495-735_897+434del | ClinVar |
| 12 | g.102852885G>A | CA6748843 | PAH | c.772C>T (p.Leu258=) c.757C>T (p.Leu253=) n.531C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852885G>C | CA386295543 | PAH | c.772C>G (p.Leu258Val) c.757C>G (p.Leu253Val) n.531C>G | |
| 12 | g.102852885G= | CA2059446476 | PAH | c.772C= (p.Leu258=) c.757C= (p.Leu253=) n.531C= | |
| 12 | g.102852885G>T | CA386295529 | PAH | c.772C>A (p.Leu258Met) c.757C>A (p.Leu253Met) n.531C>A | |
| 12 | g.102852886G>A | CA6748844 | PAH | c.771C>T (p.Gly257=) c.756C>T (p.Gly252=) n.530C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852886G>C | CA481331502 | PAH | c.771C>G (p.Gly257=) c.756C>G (p.Gly252=) n.530C>G | |
| 12 | g.102852886G= | CA2059446479 | PAH | c.771C= (p.Gly257=) c.756C= (p.Gly252=) n.530C= | |
| 12 | g.102852886G>T | CA481331503 | PAH | c.771C>A (p.Gly257=) c.756C>A (p.Gly252=) n.530C>A | ClinVar dbSNP |
| 12 | g.102852887C>A | CA229753 | PAH | c.770G>T (p.Gly257Val) c.755G>T (p.Gly252Val) n.529G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852887C= | CA2059446486 | PAH | c.770G= (p.Gly257=) c.755G= (p.Gly252=) n.529G= | |
| 12 | g.102852887C>G | CA386295550 | PAH | c.770G>C (p.Gly257Ala) c.755G>C (p.Gly252Ala) n.529G>C | |
| 12 | g.102852887C>T | CA229751 | PAH | c.770G>A (p.Gly257Asp) c.755G>A (p.Gly252Asp) n.529G>A | ClinVar dbSNP |
| 12 | g.102852888C>A | CA229750 | PAH | c.769G>T (p.Gly257Cys) c.754G>T (p.Gly252Cys) n.528G>T | ClinVar dbSNP |
| 12 | g.102852888C= | CA2059446491 | PAH | c.769G= (p.Gly257=) c.754G= (p.Gly252=) n.528G= | |
| 12 | g.102852888C>G | CA386295558 | PAH | c.769G>C (p.Gly257Arg) c.754G>C (p.Gly252Arg) n.528G>C | |
| 12 | g.102852888C>T | CA229748 | PAH | c.769G>A (p.Gly257Ser) c.754G>A (p.Gly252Ser) n.528G>A | ClinVar dbSNP |
| 12 | g.102852889A= | CA2059446501 | PAH | c.768T= (p.Gly256=) c.753T= (p.Gly251=) n.527T= | |
| 12 | g.102852889A>C | CA481331510 | PAH | c.768T>G (p.Gly256=) c.753T>G (p.Gly251=) n.527T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852889A>G | CA481331511 | PAH | c.768T>C (p.Gly256=) c.753T>C (p.Gly251=) n.527T>C | |
| 12 | g.102852889A>T | CA481331512 | PAH | c.768T>A (p.Gly256=) c.753T>A (p.Gly251=) n.527T>A | |
| 12 | g.102852890C>A | CA386295577 | PAH | c.767G>T (p.Gly256Val) c.752G>T (p.Gly251Val) n.526G>T | |
| 12 | g.102852890C>G | CA386295568 | PAH | c.767G>C (p.Gly256Ala) c.752G>C (p.Gly251Ala) n.526G>C | gnomAD v4 |
| 12 | g.102852890C>T | CA386295573 | PAH | c.767G>A (p.Gly256Asp) c.752G>A (p.Gly251Asp) n.526G>A | |
| 12 | g.102852891C>A | CA386295581 | PAH | c.766G>T (p.Gly256Cys) c.751G>T (p.Gly251Cys) n.525G>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852891C= | CA2059446506 | PAH | c.766G= (p.Gly256=) c.751G= (p.Gly251=) n.525G= | |
| 12 | g.102852891C>G | CA386295584 | PAH | c.766G>C (p.Gly256Arg) c.751G>C (p.Gly251Arg) n.525G>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852891C>T | CA386295587 | PAH | c.766G>A (p.Gly256Ser) c.751G>A (p.Gly251Ser) n.525G>A | dbSNP |
| 12 | g.102852892C>A | CA386295590 | PAH | c.765G>T (p.Leu255Phe) c.750G>T (p.Leu250Phe) n.524G>T | |
| 12 | g.102852892C= | CA2059446509 | PAH | c.765G= (p.Leu255=) c.750G= (p.Leu250=) n.524G= | |
| 12 | g.102852892C>G | CA386295593 | PAH | c.765G>C (p.Leu255Phe) c.750G>C (p.Leu250Phe) n.524G>C | |
| 12 | g.102852892C>T | CA481331514 | PAH | c.765G>A (p.Leu255=) c.750G>A (p.Leu250=) n.524G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852893A= | CA2059446513 | PAH | c.764T= (p.Leu255=) c.749T= (p.Leu250=) n.523T= | |
| 12 | g.102852893A>C | CA386295604 | PAH | c.764T>G (p.Leu255Trp) c.749T>G (p.Leu250Trp) n.523T>G | |
| 12 | g.102852893A>G | CA229747 | PAH | c.764T>C (p.Leu255Ser) c.749T>C (p.Leu250Ser) n.523T>C | ClinVar dbSNP |
| 12 | g.102852893A>T | CA386295600 | PAH | c.764T>A (p.Leu255Ter) c.749T>A (p.Leu250Ter) n.523T>A | |
| 12 | g.102852894A= | CA2059446519 | PAH | c.763T= (p.Leu255=) c.748T= (p.Leu250=) n.522T= | |
| 12 | g.102852894A>C | CA229746 | PAH | c.763T>G (p.Leu255Val) c.748T>G (p.Leu250Val) n.522T>G | ClinVar dbSNP |
| 12 | g.102852894A>G | CA481331517 | PAH | c.763T>C (p.Leu255=) c.748T>C (p.Leu250=) n.522T>C | |
| 12 | g.102852894A>T | CA386295609 | PAH | c.763T>A (p.Leu255Met) c.748T>A (p.Leu250Met) n.522T>A | |
| 12 | g.102852895G>A | CA481331519 | PAH | c.762C>T (p.Phe254=) c.747C>T (p.Phe249=) n.521C>T | |
| 12 | g.102852895G>C | CA386295614 | PAH | c.762C>G (p.Phe254Leu) c.747C>G (p.Phe249Leu) n.521C>G | |
| 12 | g.102852895G>T | CA386295615 | PAH | c.762C>A (p.Phe254Leu) c.747C>A (p.Phe249Leu) n.521C>A | |
| 12 | g.102852896A>C | CA386295616 | PAH | c.761T>G (p.Phe254Cys) c.746T>G (p.Phe249Cys) n.520T>G | |
| 12 | g.102852896A>G | CA386295619 | PAH | c.761T>C (p.Phe254Ser) c.746T>C (p.Phe249Ser) n.520T>C | |
| 12 | g.102852896A>T | CA386295623 | PAH | c.761T>A (p.Phe254Tyr) c.746T>A (p.Phe249Tyr) n.520T>A | |
| 12 | g.102852897A= | CA2059446526 | PAH | c.760T= (p.Phe254=) c.745T= (p.Phe249=) n.519T= | |
| 12 | g.102852897A>C | CA386295625 | PAH | c.760T>G (p.Phe254Val) c.745T>G (p.Phe249Val) n.519T>G | |
| 12 | g.102852897A>G | CA386295628 | PAH | c.760T>C (p.Phe254Leu) c.745T>C (p.Phe249Leu) n.519T>C | |
| 12 | g.102852897A>T | CA229744 | PAH | c.760T>A (p.Phe254Ile) c.745T>A (p.Phe249Ile) n.519T>A | ClinVar dbSNP |