| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102854491_102855291del | CA658656325 | PAH | c.553_706+647del c.538_691+647del c.553_*296del | ClinVar |
| 12 | g.102854490_102855289delinsATAGGTAAGTA | CA2580085705 | PAH | c.553_706+646delinsTACTTACCTAT c.538_691+646delinsTACTTACCTAT c.553_*295delinsTACTTACCTAT | ClinVar |
| 12 | g.102855155_102855353delinsTGG | CA2573147930 | PAH | c.510-21_687delinsCCA c.495-21_672delinsCCA n.606-21_783delinsCCA | ClinVar dbSNP |
| 12 | g.102855177_102855353del | CA16020833 | PAH | c.510-19_667del c.495-19_652del n.606-19_763del | ClinVar |
| 12 | g.102855282del | CA229630 | PAH | c.563del (p.Gly188AlafsTer7) c.548del (p.Gly183AlafsTer7) n.659del n.584del | ClinVar dbSNP |
| 12 | g.102855281C>A | CA386296845 | PAH | c.561G>T (p.Trp187Cys) c.546G>T (p.Trp182Cys) n.657G>T n.582G>T | |
| 12 | g.102855281C= | CA2059449667 | PAH | c.561G= (p.Trp187=) c.546G= (p.Trp182=) n.657G= n.582G= | |
| 12 | g.102855281C>G | CA229626 | PAH | c.561G>C (p.Trp187Cys) c.546G>C (p.Trp182Cys) n.657G>C n.582G>C | ClinVar dbSNP |
| 12 | g.102855281C>T | CA229624 | PAH | c.561G>A (p.Trp187Ter) c.546G>A (p.Trp182Ter) n.657G>A n.582G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855282C>A | CA386296850 | PAH | c.560G>T (p.Trp187Leu) c.545G>T (p.Trp182Leu) n.656G>T n.581G>T | |
| 12 | g.102855282C>G | CA386296852 | PAH | c.560G>C (p.Trp187Ser) c.545G>C (p.Trp182Ser) n.656G>C n.581G>C | |
| 12 | g.102855282C>T | CA16020817 | PAH | c.560G>A (p.Trp187Ter) c.545G>A (p.Trp182Ter) n.656G>A n.581G>A | |
| 12 | g.102855282_102855284delinsCAT | CA2059449676 | PAH | c.558_560delinsATG (p.Thr186=) c.543_545delinsATG (p.Thr181=) n.654_656delinsATG n.579_581delinsATG | |
| 12 | g.102855283A= | CA2059449687 | PAH | c.559T= (p.Trp187=) c.544T= (p.Trp182=) n.655T= n.580T= | |
| 12 | g.102855283A>C | CA386296858 | PAH | c.559T>G (p.Trp187Gly) c.544T>G (p.Trp182Gly) n.655T>G n.580T>G | |
| 12 | g.102855283A>G | CA229622 | PAH | c.559T>C (p.Trp187Arg) c.544T>C (p.Trp182Arg) n.655T>C n.580T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855283A>T | CA386296857 | PAH | c.559T>A (p.Trp187Arg) c.544T>A (p.Trp182Arg) n.655T>A n.580T>A | |
| 12 | g.102855283_102855284del | CA229621 | PAH | c.558_559del (p.Trp187GlyfsTer12) c.543_544del (p.Trp182GlyfsTer12) n.654_655del n.579_580del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855284del | CA16020816 | PAH | c.558del (p.Trp187GlyfsTer8) c.543del (p.Trp182GlyfsTer8) n.654del n.579del | |
| 12 | g.102855284T>A | CA481578598 | PAH | c.558A>T (p.Thr186=) c.543A>T (p.Thr181=) n.654A>T n.579A>T | gnomAD v4 |
| 12 | g.102855284T>C | CA481578599 | PAH | c.558A>G (p.Thr186=) c.543A>G (p.Thr181=) n.654A>G n.579A>G | |
| 12 | g.102855284T>G | CA481578600 | PAH | c.558A>C (p.Thr186=) c.543A>C (p.Thr181=) n.654A>C n.579A>C | |
| 12 | g.102855285G>A | CA386296861 | PAH | c.557C>T (p.Thr186Ile) c.542C>T (p.Thr181Ile) n.653C>T n.578C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855285G>C | CA386296863 | PAH | c.557C>G (p.Thr186Arg) c.542C>G (p.Thr181Arg) n.653C>G n.578C>G | gnomAD v4 |
| 12 | g.102855285G= | CA2059449692 | PAH | c.557C= (p.Thr186=) c.542C= (p.Thr181=) n.653C= n.578C= | |
| 12 | g.102855285G>T | CA386296865 | PAH | c.557C>A (p.Thr186Lys) c.542C>A (p.Thr181Lys) n.653C>A n.578C>A | |
| 12 | g.102855285_102855286delinsGT | CA2059449689 | PAH | c.556_557delinsAC (p.Thr186=) c.541_542delinsAC (p.Thr181=) n.652_653delinsAC n.577_578delinsAC | |
| 12 | g.102855286T>A | CA386296868 | PAH | c.556A>T (p.Thr186Ser) c.541A>T (p.Thr181Ser) n.652A>T n.577A>T | |
| 12 | g.102855286T>C | CA386296870 | PAH | c.556A>G (p.Thr186Ala) c.541A>G (p.Thr181Ala) n.652A>G n.577A>G | ClinVar |
| 12 | g.102855286T>G | CA386296871 | PAH | c.556A>C (p.Thr186Pro) c.541A>C (p.Thr181Pro) n.652A>C n.577A>C | COSMIC |
| 12 | g.102855289del | CA229620 | PAH | c.556del (p.Thr186HisfsTer9) c.541del (p.Thr181HisfsTer9) n.652del n.577del | ClinVar dbSNP |
| 12 | g.102855287T>A | CA386296874 | PAH | c.555A>T (p.Lys185Asn) c.540A>T (p.Lys180Asn) n.651A>T n.576A>T | |
| 12 | g.102855287T>C | CA481578602 | PAH | c.555A>G (p.Lys185=) c.540A>G (p.Lys180=) n.651A>G n.576A>G | |
| 12 | g.102855287T>G | CA386296876 | PAH | c.555A>C (p.Lys185Asn) c.540A>C (p.Lys180Asn) n.651A>C n.576A>C | |
| 12 | g.102855288T>A | CA386296879 | PAH | c.554A>T (p.Lys185Ile) c.539A>T (p.Lys180Ile) n.650A>T n.575A>T | |
| 12 | g.102855288T>C | CA386296880 | PAH | c.554A>G (p.Lys185Arg) c.539A>G (p.Lys180Arg) n.650A>G n.575A>G | |
| 12 | g.102855288T>G | CA386296882 | PAH | c.554A>C (p.Lys185Thr) c.539A>C (p.Lys180Thr) n.650A>C n.575A>C | |
| 12 | g.102855290_102855292del | CA2697551521 | PAH | c.552_554del (p.Lys185del) c.537_539del (p.Lys180del) n.648_650del n.573_575del | ClinVar |
| 12 | g.102855288_102855289insGAGACACC | CA3038904330 | PAH | c.553_554insGGTGTCTC (p.Lys185ArgfsTer13) c.538_539insGGTGTCTC (p.Lys180ArgfsTer13) n.649_650insGGTGTCTC n.574_575insGGTGTCTC | |
| 12 | g.102855289T>A | CA386296885 | PAH | c.553A>T (p.Lys185Ter) c.538A>T (p.Lys180Ter) n.649A>T n.574A>T | |
| 12 | g.102855289T>C | CA386296889 | PAH | c.553A>G (p.Lys185Glu) c.538A>G (p.Lys180Glu) n.649A>G n.574A>G | ClinVar gnomAD v4 |
| 12 | g.102855289T>G | CA386296887 | PAH | c.553A>C (p.Lys185Gln) c.538A>C (p.Lys180Gln) n.649A>C n.574A>C | |
| 12 | g.102855290C>A | CA386296891 | PAH | c.552G>T (p.Lys184Asn) c.537G>T (p.Lys179Asn) n.648G>T n.573G>T | |
| 12 | g.102855290C>G | CA386296893 | PAH | c.552G>C (p.Lys184Asn) c.537G>C (p.Lys179Asn) n.648G>C n.573G>C | |
| 12 | g.102855290C>T | CA481578605 | PAH | c.552G>A (p.Lys184=) c.537G>A (p.Lys179=) n.648G>A n.573G>A | |
| 12 | g.102855290_102855291delinsCT | CA2059449698 | PAH | c.551_552delinsAG (p.Lys184=) c.536_537delinsAG (p.Lys179=) n.647_648delinsAG n.572_573delinsAG | |
| 12 | g.102855291T>A | CA386296895 | PAH | c.551A>T (p.Lys184Met) c.536A>T (p.Lys179Met) n.647A>T n.572A>T | |
| 12 | g.102855291T>C | CA386296896 | PAH | c.551A>G (p.Lys184Arg) c.536A>G (p.Lys179Arg) n.647A>G n.572A>G | |
| 12 | g.102855291T>G | CA386296899 | PAH | c.551A>C (p.Lys184Thr) c.536A>C (p.Lys179Thr) n.647A>C n.572A>C | |
| 12 | g.102855294del | CA16020815 | PAH | c.551del (p.Lys184ArgfsTer11) c.536del (p.Lys179ArgfsTer11) n.647del n.572del | ClinVar dbSNP gnomAD v4 |