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.102855233_102855256delinsGCAAGCATGGGTTTTATACAAGGA | CA2059449497 | PAH | c.586_609delinsTCCTTGTATAAAACCCATGCTTGC (p.Ser196=) c.571_594delinsTCCTTGTATAAAACCCATGCTTGC (p.Ser191=) n.682_705delinsTCCTTGTATAAAACCCATGCTTGC | |
12 | g.102855235_102855257del | CA229634 | PAH | c.586_608del (p.Ser196LeufsTer2) c.571_593del (p.Ser191LeufsTer2) n.682_704del | ClinVar dbSNP |
12 | g.102855254G>A | CA6748890 | PAH | c.588C>T (p.Ser196=) c.573C>T (p.Ser191=) n.684C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855254G>C | CA481578568 | PAH | c.588C>G (p.Ser196=) c.573C>G (p.Ser191=) n.684C>G | |
12 | g.102855254G= | CA2059449569 | PAH | c.588C= (p.Ser196=) c.573C= (p.Ser191=) n.684C= | |
12 | g.102855254G>T | CA481578567 | PAH | c.588C>A (p.Ser196=) c.573C>A (p.Ser191=) n.684C>A | |
12 | g.102855254_102855255delinsAC | CA645584084 | PAH | c.587_588delinsGT (p.Ser196Cys) c.572_573delinsGT (p.Ser191Cys) n.683_684delinsGT | COSMIC |
12 | g.102855255G>A | CA242474167 | PAH | c.587C>T (p.Ser196Phe) c.572C>T (p.Ser191Phe) n.683C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.102855255G>C | CA386296758 | PAH | c.587C>G (p.Ser196Cys) c.572C>G (p.Ser191Cys) n.683C>G | gnomAD v4 |
12 | g.102855255G= | CA2059449574 | PAH | c.587C= (p.Ser196=) c.572C= (p.Ser191=) n.683C= | |
12 | g.102855255G>T | CA16020823 | PAH | c.587C>A (p.Ser196Tyr) c.572C>A (p.Ser191Tyr) n.683C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102855256A>C | CA386296759 | PAH | c.586T>G (p.Ser196Ala) c.571T>G (p.Ser191Ala) n.682T>G | |
12 | g.102855256A>G | CA386296760 | PAH | c.586T>C (p.Ser196Pro) c.571T>C (p.Ser191Pro) n.682T>C | |
12 | g.102855256A>T | CA16020822 | PAH | c.586T>A (p.Ser196Thr) c.571T>A (p.Ser191Thr) n.682T>A | ClinVar dbSNP |
12 | g.102855257C>A | CA386296761 | PAH | c.585G>T (p.Lys195Asn) c.570G>T (p.Lys190Asn) n.681G>T | |
12 | g.102855257C= | CA2059449579 | PAH | c.585G= (p.Lys195=) c.570G= (p.Lys190=) n.681G= | |
12 | g.102855257C>G | CA386296762 | PAH | c.585G>C (p.Lys195Asn) c.570G>C (p.Lys190Asn) n.681G>C | |
12 | g.102855257C>T | CA481578569 | PAH | c.585G>A (p.Lys195=) c.570G>A (p.Lys190=) n.681G>A | |
12 | g.102855258T>A | CA386296763 | PAH | c.584A>T (p.Lys195Met) c.569A>T (p.Lys190Met) n.680A>T | |
12 | g.102855258T>C | CA386296764 | PAH | c.584A>G (p.Lys195Arg) c.569A>G (p.Lys190Arg) n.680A>G | gnomAD v4 |
12 | g.102855258T>G | CA386296765 | PAH | c.584A>C (p.Lys195Thr) c.569A>C (p.Lys190Thr) n.680A>C | COSMIC |
12 | g.102855259dup | CA16020821 | PAH | c.584dup (p.Ser196ValfsTer4) c.569dup (p.Ser191ValfsTer4) n.680dup | ClinVar dbSNP |
12 | g.102855259T>A | CA386296767 | PAH | c.583A>T (p.Lys195Ter) c.568A>T (p.Lys190Ter) n.679A>T | |
12 | g.102855259T>C | CA386296768 | PAH | c.583A>G (p.Lys195Glu) c.568A>G (p.Lys190Glu) n.679A>G | |
12 | g.102855259T>G | CA386296766 | PAH | c.583A>C (p.Lys195Gln) c.568A>C (p.Lys190Gln) n.679A>C | |
12 | g.102855260C>A | CA481578570 | PAH | c.582G>T (p.Leu194=) c.567G>T (p.Leu189=) n.678G>T | |
12 | g.102855260C>G | CA481578571 | PAH | c.582G>C (p.Leu194=) c.567G>C (p.Leu189=) n.678G>C | |
12 | g.102855260C>T | CA481578572 | PAH | c.582G>A (p.Leu194=) c.567G>A (p.Leu189=) n.678G>A | COSMIC |
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 |