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.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.102855290_102855292del | CA2697551521 | PAH | c.552_554del (p.Lys185del) c.537_539del (p.Lys180del) n.648_650del n.573_575del | ClinVar |
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 |
12 | g.102855294_102855295delinsTC | CA2059449718 | PAH | c.547_548delinsGA (p.Glu183=) c.532_533delinsGA (p.Glu178=) n.643_644delinsGA n.568_569delinsGA | |
12 | g.102855295C>A | CA386296920 | PAH | c.547G>T (p.Glu183Ter) c.532G>T (p.Glu178Ter) n.643G>T n.568G>T | ClinVar dbSNP |
12 | g.102855295C= | CA2059449735 | PAH | c.547G= (p.Glu183=) c.532G= (p.Glu178=) n.643G= n.568G= | |
12 | g.102855295C>G | CA229619 | PAH | c.547G>C (p.Glu183Gln) c.532G>C (p.Glu178Gln) n.643G>C n.568G>C | ClinVar dbSNP |
12 | g.102855295C>T | CA6748894 | PAH | c.547G>A (p.Glu183Lys) c.532G>A (p.Glu178Lys) n.643G>A n.568G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102855296T>A | CA386296924 | PAH | c.546A>T (p.Glu182Asp) c.531A>T (p.Glu177Asp) n.642A>T n.567A>T | |
12 | g.102855296T>C | CA481578609 | PAH | c.546A>G (p.Glu182=) c.531A>G (p.Glu177=) n.642A>G n.567A>G | |
12 | g.102855296T>G | CA386296926 | PAH | c.546A>C (p.Glu182Asp) c.531A>C (p.Glu177Asp) n.642A>C n.567A>C | |
12 | g.102855296_102855299delinsTTCC | CA2059449741 | PAH | c.543_546delinsGGAA (p.Glu181=) c.528_531delinsGGAA (p.Glu176=) n.639_642delinsGGAA n.564_567delinsGGAA | |
12 | g.102855297T>A | CA386296928 | PAH | c.545A>T (p.Glu182Val) c.530A>T (p.Glu177Val) n.641A>T n.566A>T | |
12 | g.102855297T>C | CA229617 | PAH | c.545A>G (p.Glu182Gly) c.530A>G (p.Glu177Gly) n.641A>G n.566A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.102855297T>G | CA386296931 | PAH | c.545A>C (p.Glu182Ala) c.530A>C (p.Glu177Ala) n.641A>C n.566A>C | |
12 | g.102855297T= | CA2059449749 | PAH | c.545A= (p.Glu182=) c.530A= (p.Glu177=) n.641A= n.566A= | |
12 | g.102855300_102855302del | CA1139532590 | PAH | c.543_545del (p.Glu182del) c.528_530del (p.Glu177del) n.639_641del n.564_566del | ClinVar dbSNP |
12 | g.102855298C>A | CA386296933 | PAH | c.544G>T (p.Glu182Ter) c.529G>T (p.Glu177Ter) n.640G>T n.565G>T | |
12 | g.102855298C>G | CA386296935 | PAH | c.544G>C (p.Glu182Gln) c.529G>C (p.Glu177Gln) n.640G>C n.565G>C | |
12 | g.102855298C>T | CA16020813 | PAH | c.544G>A (p.Glu182Lys) c.529G>A (p.Glu177Lys) n.640G>A n.565G>A | ClinVar dbSNP COSMIC |
12 | g.102855298_102855302del | CA2695217165 | PAH | c.540_544del (p.Met180IlefsTer18) c.525_529del (p.Met175IlefsTer18) n.636_640del n.561_565del | |
12 | g.102855299_102855302del | CA2695217164 | PAH | c.541_544del (p.Glu181LysfsTer13) c.526_529del (p.Glu176LysfsTer13) n.637_640del n.562_565del | |
12 | g.102855299C>A | CA386296938 | PAH | c.543G>T (p.Glu181Asp) c.528G>T (p.Glu176Asp) n.639G>T n.564G>T | |
12 | g.102855299C>G | CA386296940 | PAH | c.543G>C (p.Glu181Asp) c.528G>C (p.Glu176Asp) n.639G>C n.564G>C | |
12 | g.102855299C>T | CA481578613 | PAH | c.543G>A (p.Glu181=) c.528G>A (p.Glu176=) n.639G>A n.564G>A | ClinVar |
12 | g.102855300T>A | CA386296942 | PAH | c.542A>T (p.Glu181Val) c.527A>T (p.Glu176Val) n.638A>T n.563A>T | |
12 | g.102855300T>C | CA386296946 | PAH | c.542A>G (p.Glu181Gly) c.527A>G (p.Glu176Gly) n.638A>G n.563A>G | gnomAD v4 |
12 | g.102855300T>G | CA386296944 | PAH | c.542A>C (p.Glu181Ala) c.527A>C (p.Glu176Ala) n.638A>C n.563A>C | |
12 | g.102855301C>A | CA386296948 | PAH | c.541G>T (p.Glu181Ter) c.526G>T (p.Glu176Ter) n.637G>T n.562G>T | |
12 | g.102855301C= | CA2059449761 | PAH | c.541G= (p.Glu181=) c.526G= (p.Glu176=) n.637G= n.562G= | |
12 | g.102855301C>G | CA386296952 | PAH | c.541G>C (p.Glu181Gln) c.526G>C (p.Glu176Gln) n.637G>C n.562G>C |