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.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.102855282_102855284delinsCAT | CA2059449676 | PAH | c.558_560delinsATG (p.Thr186=) c.543_545delinsATG (p.Thr181=) n.654_656delinsATG n.579_581delinsATG | |
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.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 |
12 | g.102855292T>A | CA386296906 | PAH | c.550A>T (p.Lys184Ter) c.535A>T (p.Lys179Ter) n.646A>T n.571A>T | |
12 | g.102855292T>C | CA386296904 | PAH | c.550A>G (p.Lys184Glu) c.535A>G (p.Lys179Glu) n.646A>G n.571A>G | |
12 | g.102855292T>G | CA386296902 | PAH | c.550A>C (p.Lys184Gln) c.535A>C (p.Lys179Gln) n.646A>C n.571A>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102855292T= | CA2059449707 | PAH | c.550A= (p.Lys184=) c.535A= (p.Lys179=) n.646A= n.571A= | |
12 | g.102855293T>A | CA386296908 | PAH | c.549A>T (p.Glu183Asp) c.534A>T (p.Glu178Asp) n.645A>T n.570A>T | |
12 | g.102855293T>C | CA481578606 | PAH | c.549A>G (p.Glu183=) c.534A>G (p.Glu178=) n.645A>G n.570A>G | |
12 | g.102855293T>G | CA386296910 | PAH | c.549A>C (p.Glu183Asp) c.534A>C (p.Glu178Asp) n.645A>C n.570A>C | |
12 | g.102855294T>A | CA386296913 | PAH | c.548A>T (p.Glu183Val) c.533A>T (p.Glu178Val) n.644A>T n.569A>T | |
12 | g.102855294T>C | CA16020814 | PAH | c.548A>G (p.Glu183Gly) c.533A>G (p.Glu178Gly) n.644A>G n.569A>G | dbSNP gnomAD v4 |
12 | g.102855294T>G | CA386296916 | PAH | c.548A>C (p.Glu183Ala) c.533A>C (p.Glu178Ala) n.644A>C n.569A>C | |
12 | g.102855294T= | CA2059449721 | PAH | c.548A= (p.Glu183=) c.533A= (p.Glu178=) n.644A= n.569A= | |
12 | g.102855294_102855295delinsAA | CA267658 | PAH | c.547_548delinsTT (p.Glu183Leu) c.532_533delinsTT (p.Glu178Leu) n.643_644delinsTT n.568_569delinsTT | ClinVar dbSNP |