| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852935_102852936del | CA2979027426 | PAH | c.722_723del (p.Arg241ProfsTer?) c.707_708del (p.Arg236ProfsTer?) n.481_482del | |
| 12 | g.102852936G>A | CA273357 | PAH | c.721C>T (p.Arg241Cys) c.706C>T (p.Arg236Cys) n.480C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852936G>C | CA386295833 | PAH | c.721C>G (p.Arg241Gly) c.706C>G (p.Arg236Gly) n.480C>G | |
| 12 | g.102852936G= | CA2059446698 | PAH | c.721C= (p.Arg241=) c.706C= (p.Arg236=) n.480C= | |
| 12 | g.102852936G>T | CA386295836 | PAH | c.721C>A (p.Arg241Ser) c.706C>A (p.Arg236Ser) n.480C>A | ClinVar dbSNP |
| 12 | g.102852937G>A | CA481331575 | PAH | c.720C>T (p.Phe240=) c.705C>T (p.Phe235=) n.479C>T | ClinVar |
| 12 | g.102852937G>C | CA386295838 | PAH | c.720C>G (p.Phe240Leu) c.705C>G (p.Phe235Leu) n.479C>G | |
| 12 | g.102852937G>T | CA386295840 | PAH | c.720C>A (p.Phe240Leu) c.705C>A (p.Phe235Leu) n.479C>A | |
| 12 | g.102852938A= | CA2059446702 | PAH | c.719T= (p.Phe240=) c.704T= (p.Phe235=) n.478T= | |
| 12 | g.102852938A>C | CA386295844 | PAH | c.719T>G (p.Phe240Cys) c.704T>G (p.Phe235Cys) n.478T>G | COSMIC |
| 12 | g.102852938A>G | CA229715 | PAH | c.719T>C (p.Phe240Ser) c.704T>C (p.Phe235Ser) n.478T>C | ClinVar dbSNP |
| 12 | g.102852938A>T | CA386295845 | PAH | c.719T>A (p.Phe240Tyr) c.704T>A (p.Phe235Tyr) n.478T>A | |
| 12 | g.102852939A= | CA2059446708 | PAH | c.718T= (p.Phe240=) c.703T= (p.Phe235=) n.477T= | |
| 12 | g.102852939A>C | CA229713 | PAH | c.718T>G (p.Phe240Val) c.703T>G (p.Phe235Val) n.477T>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852939A>G | CA386295846 | PAH | c.718T>C (p.Phe240Leu) c.703T>C (p.Phe235Leu) n.477T>C | |
| 12 | g.102852939A>T | CA386295847 | PAH | c.718T>A (p.Phe240Ile) c.703T>A (p.Phe235Ile) n.477T>A | |
| 12 | g.102852940A>C | CA481331576 | PAH | c.717T>G (p.Gly239=) c.702T>G (p.Gly234=) n.476T>G | |
| 12 | g.102852940A>G | CA481331577 | PAH | c.717T>C (p.Gly239=) c.702T>C (p.Gly234=) n.476T>C | |
| 12 | g.102852940A>T | CA481331578 | PAH | c.717T>A (p.Gly239=) c.702T>A (p.Gly234=) n.476T>A | |
| 12 | g.102852941C>A | CA229711 | PAH | c.716G>T (p.Gly239Val) c.701G>T (p.Gly234Val) n.475G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852941C= | CA2059446718 | PAH | c.716G= (p.Gly239=) c.701G= (p.Gly234=) n.475G= | |
| 12 | g.102852941C>G | CA229709 | PAH | c.716G>C (p.Gly239Ala) c.701G>C (p.Gly234Ala) n.475G>C | ClinVar dbSNP |
| 12 | g.102852941C>T | CA229707 | PAH | c.716G>A (p.Gly239Asp) c.701G>A (p.Gly234Asp) n.475G>A | ClinVar dbSNP |
| 12 | g.102852942dup | CA2979027442 | PAH | c.716dup (p.Arg241ProfsTer?) c.701dup (p.Arg236ProfsTer?) n.475dup | |
| 12 | g.102852942C>A | CA386295848 | PAH | c.715G>T (p.Gly239Cys) c.700G>T (p.Gly234Cys) n.474G>T | |
| 12 | g.102852942C= | CA2059446723 | PAH | c.715G= (p.Gly239=) c.700G= (p.Gly234=) n.474G= | |
| 12 | g.102852942C>G | CA386295849 | PAH | c.715G>C (p.Gly239Arg) c.700G>C (p.Gly234Arg) n.474G>C | dbSNP gnomAD v4 |
| 12 | g.102852942C>T | CA229706 | PAH | c.715G>A (p.Gly239Ser) c.700G>A (p.Gly234Ser) n.474G>A | ClinVar dbSNP |
| 12 | g.102852943A>C | CA481331582 | PAH | c.714T>G (p.Thr238=) c.699T>G (p.Thr233=) n.473T>G | |
| 12 | g.102852943A>G | CA481331581 | PAH | c.714T>C (p.Thr238=) c.699T>C (p.Thr233=) n.473T>C | ClinVar |
| 12 | g.102852943A>T | CA481331580 | PAH | c.714T>A (p.Thr238=) c.699T>A (p.Thr233=) n.473T>A | ClinVar dbSNP |
| 12 | g.102852944G>A | CA386295852 | PAH | c.713C>T (p.Thr238Ile) c.698C>T (p.Thr233Ile) n.472C>T | ClinVar |
| 12 | g.102852944G>C | CA386295851 | PAH | c.713C>G (p.Thr238Ser) c.698C>G (p.Thr233Ser) n.472C>G | |
| 12 | g.102852944G>T | CA386295850 | PAH | c.713C>A (p.Thr238Asn) c.698C>A (p.Thr233Asn) n.472C>A | |
| 12 | g.102852945T>A | CA386295853 | PAH | c.712A>T (p.Thr238Ser) c.697A>T (p.Thr233Ser) n.471A>T | gnomAD v4 |
| 12 | g.102852945T>C | CA16020847 | PAH | c.712A>G (p.Thr238Ala) c.697A>G (p.Thr233Ala) n.471A>G | ClinVar dbSNP |
| 12 | g.102852945T>G | CA229705 | PAH | c.712A>C (p.Thr238Pro) c.697A>C (p.Thr233Pro) n.471A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852945T= | CA2059446738 | PAH | c.712A= (p.Thr238=) c.697A= (p.Thr233=) n.471A= | |
| 12 | g.102852945_102852946insACAAGTCT | CA3045950932 | PAH | c.712_713insGACTTGTA (p.Thr238ArgfsTer?) c.697_698insGACTTGTA (p.Thr233ArgfsTer?) n.471_472insGACTTGTA | |
| 12 | g.102852945_102852962delinsTGCAAGCTGGGATGAAAA | CA2059446741 | PAH | c.707-12_712delinsTTTTCATCCCAGCTTGCA c.692-12_697delinsTTTTCATCCCAGCTTGCA n.454_471delinsTTTTCATCCCAGCTTGCA | |
| 12 | g.102852946G>A | CA481331583 | PAH | c.711C>T (p.Cys237=) c.696C>T (p.Cys232=) n.470C>T | |
| 12 | g.102852946G>C | CA386295854 | PAH | c.711C>G (p.Cys237Trp) c.696C>G (p.Cys232Trp) n.470C>G | |
| 12 | g.102852946G>T | CA386295855 | PAH | c.711C>A (p.Cys237Ter) c.696C>A (p.Cys232Ter) n.470C>A | |
| 12 | g.102852946_102852947del | CA2979027448 | PAH | c.710_711del (p.Cys237TyrfsTer?) c.695_696del (p.Cys232TyrfsTer?) n.469_470del | |
| 12 | g.102852947_102852963del | CA658797946 | PAH | c.707-12_711del c.692-12_696del n.454_470del | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852947del | CA2979027450 | PAH | c.710del (p.Cys237SerfsTer?) c.695del (p.Cys232SerfsTer?) n.469del | |
| 12 | g.102852947C>A | CA386295856 | PAH | c.710G>T (p.Cys237Phe) c.695G>T (p.Cys232Phe) n.469G>T | |
| 12 | g.102852947C>G | CA386295858 | PAH | c.710G>C (p.Cys237Ser) c.695G>C (p.Cys232Ser) n.469G>C | |
| 12 | g.102852947C>T | CA386295857 | PAH | c.710G>A (p.Cys237Tyr) c.695G>A (p.Cys232Tyr) n.469G>A | |
| 12 | g.102852948A= | CA2059446749 | PAH | c.709T= (p.Cys237=) c.694T= (p.Cys232=) n.468T= |