| 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.102855260_102855262delinsCAG | CA2059449589 | PAH | c.580_582delinsCTG (p.Leu194=) c.565_567delinsCTG (p.Leu189=) n.676_678delinsCTG | |
| 12 | g.102855261A= | CA2059449598 | PAH | c.581T= (p.Leu194=) c.566T= (p.Leu189=) n.677T= | |
| 12 | g.102855261A>C | CA16020820 | PAH | c.581T>G (p.Leu194Arg) c.566T>G (p.Leu189Arg) n.677T>G | gnomAD v4 |
| 12 | g.102855261A>G | CA229633 | PAH | c.581T>C (p.Leu194Pro) c.566T>C (p.Leu189Pro) n.677T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855261A>T | CA386296769 | PAH | c.581T>A (p.Leu194Gln) c.566T>A (p.Leu189Gln) n.677T>A | |
| 12 | g.102855263_102855264del | CA229632 | PAH | c.580_581del (p.Leu194GlufsTer5) c.565_566del (p.Leu189GlufsTer5) n.676_677del | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855262G>A | CA481578573 | PAH | c.580C>T (p.Leu194=) c.565C>T (p.Leu189=) n.676C>T | |
| 12 | g.102855262G>C | CA386296770 | PAH | c.580C>G (p.Leu194Val) c.565C>G (p.Leu189Val) n.676C>G | |
| 12 | g.102855262G>T | CA386296771 | PAH | c.580C>A (p.Leu194Met) c.565C>A (p.Leu189Met) n.676C>A | |
| 12 | g.102855262delinsTC | CA2695217163 | PAH | c.580delinsGA (p.Leu194AspfsTer6) c.565delinsGA (p.Leu189AspfsTer6) n.676delinsGA | |
| 12 | g.102855264_102855270del | CA2499221403 | PAH | c.574_580del (p.Lys192Ter) c.559_565del (p.Lys187Ter) n.670_676del | ClinVar dbSNP |
| 12 | g.102855263A= | CA2059449601 | PAH | c.579T= (p.Thr193=) c.564T= (p.Thr188=) n.675T= | |
| 12 | g.102855263A>C | CA481578576 | PAH | c.579T>G (p.Thr193=) c.564T>G (p.Thr188=) n.675T>G | |
| 12 | g.102855263A>G | CA6748891 | PAH | c.579T>C (p.Thr193=) c.564T>C (p.Thr188=) n.675T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855263A>T | CA481578578 | PAH | c.579T>A (p.Thr193=) c.564T>A (p.Thr188=) n.675T>A | |
| 12 | g.102855264G>A | CA16020819 | PAH | c.578C>T (p.Thr193Ile) c.563C>T (p.Thr188Ile) n.674C>T | ClinVar gnomAD v4 |
| 12 | g.102855264G>C | CA386296772 | PAH | c.578C>G (p.Thr193Ser) c.563C>G (p.Thr188Ser) n.674C>G | |
| 12 | g.102855264G>T | CA386296774 | PAH | c.578C>A (p.Thr193Asn) c.563C>A (p.Thr188Asn) n.674C>A | |
| 12 | g.102855265T>A | CA386296776 | PAH | c.577A>T (p.Thr193Ser) c.562A>T (p.Thr188Ser) n.673A>T | dbSNP |
| 12 | g.102855265T>C | CA386296778 | PAH | c.577A>G (p.Thr193Ala) c.562A>G (p.Thr188Ala) n.673A>G | |
| 12 | g.102855265T>G | CA386296779 | PAH | c.577A>C (p.Thr193Pro) c.562A>C (p.Thr188Pro) n.673A>C | |
| 12 | g.102855265T= | CA2059449606 | PAH | c.577A= (p.Thr193=) c.562A= (p.Thr188=) n.673A= | |
| 12 | g.102855266C>A | CA386296781 | PAH | c.576G>T (p.Lys192Asn) c.561G>T (p.Lys187Asn) n.672G>T | COSMIC |
| 12 | g.102855266C= | CA2059449610 | PAH | c.576G= (p.Lys192=) c.561G= (p.Lys187=) n.672G= | |
| 12 | g.102855266C>G | CA386296782 | PAH | c.576G>C (p.Lys192Asn) c.561G>C (p.Lys187Asn) n.672G>C | dbSNP gnomAD v4 |
| 12 | g.102855266C>T | CA481578580 | PAH | c.576G>A (p.Lys192=) c.561G>A (p.Lys187=) n.672G>A | |
| 12 | g.102855267T>A | CA386296784 | PAH | c.575A>T (p.Lys192Met) c.560A>T (p.Lys187Met) n.671A>T | |
| 12 | g.102855267T>C | CA386296786 | PAH | c.575A>G (p.Lys192Arg) c.560A>G (p.Lys187Arg) n.671A>G | gnomAD v4 |
| 12 | g.102855267T>G | CA386296788 | PAH | c.575A>C (p.Lys192Thr) c.560A>C (p.Lys187Thr) n.671A>C | |
| 12 | g.102855268T>A | CA386296790 | PAH | c.574A>T (p.Lys192Ter) c.559A>T (p.Lys187Ter) n.670A>T | |
| 12 | g.102855268T>C | CA242474187 | PAH | c.574A>G (p.Lys192Glu) c.559A>G (p.Lys187Glu) n.670A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855268T>G | CA386296793 | PAH | c.574A>C (p.Lys192Gln) c.559A>C (p.Lys187Gln) n.670A>C | |
| 12 | g.102855268T= | CA2059449613 | PAH | c.574A= (p.Lys192=) c.559A= (p.Lys187=) n.670A= | |
| 12 | g.102855269G>A | CA481578582 | PAH | c.573C>T (p.Phe191=) c.558C>T (p.Phe186=) n.669C>T | |
| 12 | g.102855269G>C | CA386296795 | PAH | c.573C>G (p.Phe191Leu) c.558C>G (p.Phe186Leu) n.669C>G | gnomAD v4 |
| 12 | g.102855269G>T | CA386296797 | PAH | c.573C>A (p.Phe191Leu) c.558C>A (p.Phe186Leu) n.669C>A | gnomAD v4 |
| 12 | g.102855270A>C | CA386296800 | PAH | c.572T>G (p.Phe191Cys) c.557T>G (p.Phe186Cys) n.668T>G | |
| 12 | g.102855270A>G | CA386296801 | PAH | c.572T>C (p.Phe191Ser) c.557T>C (p.Phe186Ser) n.668T>C | |
| 12 | g.102855270A>T | CA386296803 | PAH | c.572T>A (p.Phe191Tyr) c.557T>A (p.Phe186Tyr) n.668T>A | |
| 12 | g.102855271A>C | CA386296808 | PAH | c.571T>G (p.Phe191Val) c.556T>G (p.Phe186Val) n.667T>G | |
| 12 | g.102855271A>G | CA386296807 | PAH | c.571T>C (p.Phe191Leu) c.556T>C (p.Phe186Leu) n.667T>C | |
| 12 | g.102855271A>T | CA386296805 | PAH | c.571T>A (p.Phe191Ile) c.556T>A (p.Phe186Ile) n.667T>A | |
| 12 | g.102855272C>A | CA481578586 | PAH | c.570G>T (p.Val190=) c.555G>T (p.Val185=) n.666G>T | |
| 12 | g.102855272C>G | CA481578584 | PAH | c.570G>C (p.Val190=) c.555G>C (p.Val185=) n.666G>C | COSMIC |
| 12 | g.102855272C>T | CA481578585 | PAH | c.570G>A (p.Val190=) c.555G>A (p.Val185=) n.666G>A | ClinVar dbSNP |