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.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 |
12 | g.102852898A>C | CA386295632 | PAH | c.759T>G (p.Asp253Glu) c.744T>G (p.Asp248Glu) n.518T>G | |
12 | g.102852898A>G | CA481331522 | PAH | c.759T>C (p.Asp253=) c.744T>C (p.Asp248=) n.518T>C | |
12 | g.102852898A>T | CA386295635 | PAH | c.759T>A (p.Asp253Glu) c.744T>A (p.Asp248Glu) n.518T>A | |
12 | g.102852899T>A | CA386295640 | PAH | c.758A>T (p.Asp253Val) c.743A>T (p.Asp248Val) n.517A>T | |
12 | g.102852899T>C | CA386295650 | PAH | c.758A>G (p.Asp253Gly) c.743A>G (p.Asp248Gly) n.517A>G | dbSNP |
12 | g.102852899T>G | CA386295646 | PAH | c.758A>C (p.Asp253Ala) c.743A>C (p.Asp248Ala) n.517A>C | |
12 | g.102852899T= | CA2059446530 | PAH | c.758A= (p.Asp253=) c.743A= (p.Asp248=) n.517A= | |
12 | g.102852900C>A | CA386295654 | PAH | c.757G>T (p.Asp253Tyr) c.742G>T (p.Asp248Tyr) n.516G>T | gnomAD v4 |
12 | g.102852900C= | CA2059446536 | PAH | c.757G= (p.Asp253=) c.742G= (p.Asp248=) n.516G= | |
12 | g.102852900C>G | CA386295661 | PAH | c.757G>C (p.Asp253His) c.742G>C (p.Asp248His) n.516G>C | |
12 | g.102852900C>T | CA6748845 | PAH | c.757G>A (p.Asp253Asn) c.742G>A (p.Asp248Asn) n.516G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102852901C>A | CA481331531 | PAH | c.756G>T (p.Arg252=) c.741G>T (p.Arg247=) n.515G>T | dbSNP |