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.102852917_102852927del | CA2620515166 | PAH | c.734_744del (p.Val245AlafsTer?) c.719_729del (p.Val240AlafsTer?) n.493_503del | gnomAD v4 |
12 | g.102852914del | CA2695217156 | PAH | c.743del (p.Leu248ArgfsTer?) c.728del (p.Leu243ArgfsTer?) n.502del | |
12 | g.102852914A= | CA2059446586 | PAH | c.743T= (p.Leu248=) c.728T= (p.Leu243=) n.502T= | |
12 | g.102852914A>C | CA229738 | PAH | c.743T>G (p.Leu248Arg) c.728T>G (p.Leu243Arg) n.502T>G | ClinVar dbSNP gnomAD v4 |
12 | g.102852914A>G | CA229737 | PAH | c.743T>C (p.Leu248Pro) c.728T>C (p.Leu243Pro) n.502T>C | ClinVar dbSNP |
12 | g.102852914A>T | CA386295720 | PAH | c.743T>A (p.Leu248Gln) c.728T>A (p.Leu243Gln) n.502T>A | |
12 | g.102852915G>A | CA481331552 | PAH | c.742C>T (p.Leu248=) c.727C>T (p.Leu243=) n.501C>T | ClinVar dbSNP |
12 | g.102852915G>C | CA386295732 | PAH | c.742C>G (p.Leu248Val) c.727C>G (p.Leu243Val) n.501C>G | |
12 | g.102852915G= | CA2059446592 | PAH | c.742C= (p.Leu248=) c.727C= (p.Leu243=) n.501C= | |
12 | g.102852915G>T | CA386295729 | PAH | c.742C>A (p.Leu248Met) c.727C>A (p.Leu243Met) n.501C>A | |
12 | g.102852916G>A | CA481331553 | PAH | c.741C>T (p.Gly247=) c.726C>T (p.Gly242=) n.500C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.102852916G>C | CA481331554 | PAH | c.741C>G (p.Gly247=) c.726C>G (p.Gly242=) n.500C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102852916G= | CA2059446595 | PAH | c.741C= (p.Gly247=) c.726C= (p.Gly242=) n.500C= | |
12 | g.102852916G>T | CA481331555 | PAH | c.741C>A (p.Gly247=) c.726C>A (p.Gly242=) n.500C>A | gnomAD v4 |
12 | g.102852917C>A | CA229736 | PAH | c.740G>T (p.Gly247Val) c.725G>T (p.Gly242Val) n.499G>T | ClinVar dbSNP gnomAD v4 |
12 | g.102852917C= | CA2059446602 | PAH | c.740G= (p.Gly247=) c.725G= (p.Gly242=) n.499G= | |
12 | g.102852917C>G | CA386295738 | PAH | c.740G>C (p.Gly247Ala) c.725G>C (p.Gly242Ala) n.499G>C | |
12 | g.102852917C>T | CA229734 | PAH | c.740G>A (p.Gly247Asp) c.725G>A (p.Gly242Asp) n.499G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102852918del | CA16020849 | PAH | c.740del (p.Gly247AlafsTer?) c.725del (p.Gly242AlafsTer?) n.499del | ClinVar dbSNP |
12 | g.102852918C>A | CA386295742 | PAH | c.739G>T (p.Gly247Cys) c.724G>T (p.Gly242Cys) n.498G>T | |
12 | g.102852918C= | CA2059446610 | PAH | c.739G= (p.Gly247=) c.724G= (p.Gly242=) n.498G= | |
12 | g.102852918C>G | CA229732 | PAH | c.739G>C (p.Gly247Arg) c.724G>C (p.Gly242Arg) n.498G>C | ClinVar dbSNP |
12 | g.102852918C>T | CA229730 | PAH | c.739G>A (p.Gly247Ser) c.724G>A (p.Gly242Ser) n.498G>A | ClinVar dbSNP COSMIC |
12 | g.102852919A>C | CA481331558 | PAH | c.738T>G (p.Ala246=) c.723T>G (p.Ala241=) n.497T>G | |
12 | g.102852919A>G | CA481331557 | PAH | c.738T>C (p.Ala246=) c.723T>C (p.Ala241=) n.497T>C | |
12 | g.102852919A>T | CA481331556 | PAH | c.738T>A (p.Ala246=) c.723T>A (p.Ala241=) n.497T>A | |
12 | g.102852919_102852920delinsAG | CA2059446615 | PAH | c.737_738delinsCT (p.Ala246=) c.722_723delinsCT (p.Ala241=) n.496_497delinsCT | |
12 | g.102852920del | CA229729 | PAH | c.737del (p.Ala246ValfsTer?) c.722del (p.Ala241ValfsTer?) n.496del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102852920G>A | CA229727 | PAH | c.737C>T (p.Ala246Val) c.722C>T (p.Ala241Val) n.496C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102852920G>C | CA386295751 | PAH | c.737C>G (p.Ala246Gly) c.722C>G (p.Ala241Gly) n.496C>G | |
12 | g.102852920G= | CA2059446627 | PAH | c.737C= (p.Ala246=) c.722C= (p.Ala241=) n.496C= | |
12 | g.102852920G>T | CA229726 | PAH | c.737C>A (p.Ala246Asp) c.722C>A (p.Ala241Asp) n.496C>A | ClinVar dbSNP gnomAD v4 |
12 | g.102852921C>A | CA386295757 | PAH | c.736G>T (p.Ala246Ser) c.721G>T (p.Ala241Ser) n.495G>T | |
12 | g.102852921C= | CA2059446633 | PAH | c.736G= (p.Ala246=) c.721G= (p.Ala241=) n.495G= | |
12 | g.102852921C>G | CA386295761 | PAH | c.736G>C (p.Ala246Pro) c.721G>C (p.Ala241Pro) n.495G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102852921C>T | CA386295762 | PAH | c.736G>A (p.Ala246Thr) c.721G>A (p.Ala241Thr) n.495G>A | |
12 | g.102852922C>A | CA481331559 | PAH | c.735G>T (p.Val245=) c.720G>T (p.Val240=) n.494G>T | dbSNP |
12 | g.102852922C= | CA2059446637 | PAH | c.735G= (p.Val245=) c.720G= (p.Val240=) n.494G= | |
12 | g.102852922C>G | CA481331560 | PAH | c.735G>C (p.Val245=) c.720G>C (p.Val240=) n.494G>C | dbSNP |
12 | g.102852922C>T | CA145982 | PAH | c.735G>A (p.Val245=) c.720G>A (p.Val240=) n.494G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.[102852922C>T;102852935del] | CA645372919 | PAH | c.[722del;735G>A] (p.Arg241ProfsTer5) c.[707del;720G>A] (p.Arg236ProfsTer5) n.[481del;494G>A] | ClinVar |
12 | g.102852922_102852923delinsCA | CA2059446641 | PAH | c.734_735delinsTG (p.Val245=) c.719_720delinsTG (p.Val240=) n.493_494delinsTG | |
12 | g.102852922_102852923delinsTG | CA312809 | PAH | c.734_735delinsCA (p.Val245Ala) c.719_720delinsCA (p.Val240Ala) n.493_494delinsCA | ClinVar dbSNP |
12 | g.102852922_102852924delinsTAG | CA2580614529 | PAH | c.733_735delinsCTA (p.Val245Leu) c.718_720delinsCTA (p.Val240Leu) n.492_494delinsCTA | ClinVar |
12 | g.102852922_102852935delinsTACAGGTCGGAGG | CA2580085703 | PAH | c.722_735delinsCCTCCGACCTGTA (p.Arg241ProfsTer5) c.707_720delinsCCTCCGACCTGTA (p.Arg236ProfsTer5) n.481_494delinsCCTCCGACCTGTA | ClinVar dbSNP |
12 | g.102852923A= | CA2059446652 | PAH | c.734T= (p.Val245=) c.719T= (p.Val240=) n.493T= | |
12 | g.102852923A>C | CA386295770 | PAH | c.734T>G (p.Val245Gly) c.719T>G (p.Val240Gly) n.493T>G | |
12 | g.102852923A>G | CA114372 | PAH | c.734T>C (p.Val245Ala) c.719T>C (p.Val240Ala) n.493T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102852923A>T | CA229725 | PAH | c.734T>A (p.Val245Glu) c.719T>A (p.Val240Glu) n.493T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |