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.102855212A= | CA2059449380 | PAH | c.630T= (p.Phe210=) c.615T= (p.Phe205=) n.726T= | |
12 | g.102855212A>C | CA386296675 | PAH | c.630T>G (p.Phe210Leu) c.615T>G (p.Phe205Leu) n.726T>G | |
12 | g.102855212A>G | CA481578542 | PAH | c.630T>C (p.Phe210=) c.615T>C (p.Phe205=) n.726T>C | dbSNP |
12 | g.102855212A>T | CA386296674 | PAH | c.630T>A (p.Phe210Leu) c.615T>A (p.Phe205Leu) n.726T>A | |
12 | g.102855213A>C | CA386296676 | PAH | c.629T>G (p.Phe210Cys) c.614T>G (p.Phe205Cys) n.725T>G | |
12 | g.102855213A>G | CA386296677 | PAH | c.629T>C (p.Phe210Ser) c.614T>C (p.Phe205Ser) n.725T>C | |
12 | g.102855213A>T | CA386296678 | PAH | c.629T>A (p.Phe210Tyr) c.614T>A (p.Phe205Tyr) n.725T>A | |
12 | g.102855214A>C | CA386296679 | PAH | c.628T>G (p.Phe210Val) c.613T>G (p.Phe205Val) n.724T>G | |
12 | g.102855214A>G | CA386296680 | PAH | c.628T>C (p.Phe210Leu) c.613T>C (p.Phe205Leu) n.724T>C | |
12 | g.102855214A>T | CA386296681 | PAH | c.628T>A (p.Phe210Ile) c.613T>A (p.Phe205Ile) n.724T>A | |
12 | g.102855215A= | CA2059449384 | PAH | c.627T= (p.Ile209=) c.612T= (p.Ile204=) n.723T= | |
12 | g.102855215A>C | CA386296682 | PAH | c.627T>G (p.Ile209Met) c.612T>G (p.Ile204Met) n.723T>G | |
12 | g.102855215A>G | CA481578545 | PAH | c.627T>C (p.Ile209=) c.612T>C (p.Ile204=) n.723T>C | dbSNP |
12 | g.102855215A>T | CA481578544 | PAH | c.627T>A (p.Ile209=) c.612T>A (p.Ile204=) n.723T>A | |
12 | g.102855216A= | CA2059449387 | PAH | c.626T= (p.Ile209=) c.611T= (p.Ile204=) n.722T= | |
12 | g.102855216A>C | CA386296683 | PAH | c.626T>G (p.Ile209Ser) c.611T>G (p.Ile204Ser) n.722T>G | |
12 | g.102855216A>G | CA386296684 | PAH | c.626T>C (p.Ile209Thr) c.611T>C (p.Ile204Thr) n.722T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102855216A>T | CA386296685 | PAH | c.626T>A (p.Ile209Asn) c.611T>A (p.Ile204Asn) n.722T>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102855216_102855217insG | CA2695217161 | PAH | c.625_626insC (p.Ile209ThrfsTer6) c.610_611insC (p.Ile204ThrfsTer6) n.721_722insC | |
12 | g.102855217T>A | CA386296686 | PAH | c.625A>T (p.Ile209Phe) c.610A>T (p.Ile204Phe) n.721A>T | |
12 | g.102855217T>C | CA386296687 | PAH | c.625A>G (p.Ile209Val) c.610A>G (p.Ile204Val) n.721A>G | |
12 | g.102855217T>G | CA386296688 | PAH | c.625A>C (p.Ile209Leu) c.610A>C (p.Ile204Leu) n.721A>C | |
12 | g.102855218_102855225del | CA2695199167 | PAH | c.618_625del (p.Asn207PhefsTer5) c.603_610del (p.Asn202PhefsTer5) n.714_721del | ClinVar |
12 | g.102855218G>A | CA481578548 | PAH | c.624C>T (p.His208=) c.609C>T (p.His203=) n.720C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102855218G>C | CA386296690 | PAH | c.624C>G (p.His208Gln) c.609C>G (p.His203Gln) n.720C>G | |
12 | g.102855218G= | CA2059449389 | PAH | c.624C= (p.His208=) c.609C= (p.His203=) n.720C= | |
12 | g.102855218G>T | CA386296689 | PAH | c.624C>A (p.His208Gln) c.609C>A (p.His203Gln) n.720C>A | |
12 | g.102855219T>A | CA386296691 | PAH | c.623A>T (p.His208Leu) c.608A>T (p.His203Leu) n.719A>T | |
12 | g.102855219T>C | CA386296692 | PAH | c.623A>G (p.His208Arg) c.608A>G (p.His203Arg) n.719A>G | gnomAD v4 |
12 | g.102855219T>G | CA386296693 | PAH | c.623A>C (p.His208Pro) c.608A>C (p.His203Pro) n.719A>C | |
12 | g.102855220G>A | CA386296694 | PAH | c.622C>T (p.His208Tyr) c.607C>T (p.His203Tyr) n.718C>T | |
12 | g.102855220G>C | CA386296695 | PAH | c.622C>G (p.His208Asp) c.607C>G (p.His203Asp) n.718C>G | |
12 | g.102855220G>T | CA386296696 | PAH | c.622C>A (p.His208Asn) c.607C>A (p.His203Asn) n.718C>A | |
12 | g.102855221A>C | CA386296697 | PAH | c.621T>G (p.Asn207Lys) c.606T>G (p.Asn202Lys) n.717T>G | |
12 | g.102855221A>G | CA481578550 | PAH | c.621T>C (p.Asn207=) c.606T>C (p.Asn202=) n.717T>C | |
12 | g.102855221A>T | CA386296698 | PAH | c.621T>A (p.Asn207Lys) c.606T>A (p.Asn202Lys) n.717T>A | |
12 | g.102855222T>A | CA386296699 | PAH | c.620A>T (p.Asn207Ile) c.605A>T (p.Asn202Ile) n.716A>T | gnomAD v4 |
12 | g.102855222T>C | CA229665 | PAH | c.620A>G (p.Asn207Ser) c.605A>G (p.Asn202Ser) n.716A>G | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.102855222T>G | CA386296700 | PAH | c.620A>C (p.Asn207Thr) c.605A>C (p.Asn202Thr) n.716A>C | |
12 | g.102855222T= | CA2059449392 | PAH | c.620A= (p.Asn207=) c.605A= (p.Asn202=) n.716A= | |
12 | g.102855223T>A | CA386296701 | PAH | c.619A>T (p.Asn207Tyr) c.604A>T (p.Asn202Tyr) n.715A>T | |
12 | g.102855223T>C | CA229664 | PAH | c.619A>G (p.Asn207Asp) c.604A>G (p.Asn202Asp) n.715A>G | ClinVar dbSNP gnomAD v4 |
12 | g.102855223T>G | CA386296702 | PAH | c.619A>C (p.Asn207His) c.604A>C (p.Asn202His) n.715A>C | |
12 | g.102855223T= | CA2059449395 | PAH | c.619A= (p.Asn207=) c.604A= (p.Asn202=) n.715A= | |
12 | g.102855224G>A | CA481578553 | PAH | c.618C>T (p.Tyr206=) c.603C>T (p.Tyr201=) n.714C>T | |
12 | g.102855224G>C | CA229662 | PAH | c.618C>G (p.Tyr206Ter) c.603C>G (p.Tyr201Ter) n.714C>G | ClinVar dbSNP |
12 | g.102855224G= | CA2059449405 | PAH | c.618C= (p.Tyr206=) c.603C= (p.Tyr201=) n.714C= | |
12 | g.102855224G>T | CA6748887 | PAH | c.618C>A (p.Tyr206Ter) c.603C>A (p.Tyr201Ter) n.714C>A | ClinVar dbSNP ExAC gnomAD v2 |