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.102855105T>G | CA2620526169 | PAH | c.706+31A>C (n.706+31A>C) c.691+31A>C (n.691+31A>C) n.833A>C | gnomAD v4 |
12 | g.102855106G>T | CA2575266903 | PAH | c.706+30C>A (n.706+30C>A) c.691+30C>A (n.691+30C>A) n.832C>A | dbSNP gnomAD v4 |
12 | g.102855108A>G | CA2620526170 | PAH | c.706+28T>C (n.706+28T>C) c.691+28T>C (n.691+28T>C) n.830T>C | gnomAD v4 |
12 | g.102855109G>C | CA2575266904 | PAH | c.706+27C>G (n.706+27C>G) c.691+27C>G (n.691+27C>G) n.829C>G | |
12 | g.102855109G>T | CA2620526171 | PAH | c.706+27C>A (n.706+27C>A) c.691+27C>A (n.691+27C>A) n.829C>A | gnomAD v4 |
12 | g.102855110G>A | CA6748879 | PAH | c.706+26C>T (n.706+26C>T) c.691+26C>T (n.691+26C>T) n.828C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855110G= | CA2059448978 | PAH | c.706+26C= (n.706+26C=) c.691+26C= (n.691+26C=) n.828C= | |
12 | g.102855110G>T | CA2575266905 | PAH | c.706+26C>A (n.706+26C>A) c.691+26C>A (n.691+26C>A) n.828C>A | gnomAD v4 |
12 | g.102855111G>A | CA2620526178 | PAH | c.706+25C>T (n.706+25C>T) c.691+25C>T (n.691+25C>T) n.827C>T | gnomAD v4 |
12 | g.102855111G>C | CA951236060 | PAH | c.706+25C>G (n.706+25C>G) c.691+25C>G (n.691+25C>G) n.827C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102855111G= | CA2059448980 | PAH | c.706+25C= (n.706+25C=) c.691+25C= (n.691+25C=) n.827C= | |
12 | g.102855111G>T | CA2620526180 | PAH | c.706+25C>A (n.706+25C>A) c.691+25C>A (n.691+25C>A) n.827C>A | gnomAD v4 |
12 | g.102855112C>T | CA2575266906 | PAH | c.706+24G>A (n.706+24G>A) c.691+24G>A (n.691+24G>A) n.826G>A | gnomAD v4 |
12 | g.102855114A= | CA2059448983 | PAH | c.706+22T= (n.706+22T=) c.691+22T= (n.691+22T=) n.824T= | |
12 | g.102855114A>C | CA682806524 | PAH | c.706+22T>G (n.706+22T>G) c.691+22T>G (n.691+22T>G) n.824T>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102855114A>G | CA2620526186 | PAH | c.706+22T>C (n.706+22T>C) c.691+22T>C (n.691+22T>C) n.824T>C | gnomAD v4 |
12 | g.102855115T>A | CA2575266907 | PAH | c.706+21A>T (n.706+21A>T) c.691+21A>T (n.691+21A>T) n.823A>T | gnomAD v4 |
12 | g.102855117G= | CA2059448985 | PAH | c.706+19C= (n.706+19C=) c.691+19C= (n.691+19C=) n.821C= | |
12 | g.102855117G>T | CA682806531 | PAH | c.706+19C>A (n.706+19C>A) c.691+19C>A (n.691+19C>A) n.821C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102855118A>G | CA2575266908 | PAH | c.706+18T>C (n.706+18T>C) c.691+18T>C (n.691+18T>C) n.820T>C | |
12 | g.102855119C>A | CA229702 | PAH | c.706+17G>T (n.706+17G>T) c.691+17G>T (n.691+17G>T) n.819G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855119C= | CA2059448990 | PAH | c.706+17G= (n.706+17G=) c.691+17G= (n.691+17G=) n.819G= | |
12 | g.102855119C>G | CA2620526194 | PAH | c.706+17G>C (n.706+17G>C) c.691+17G>C (n.691+17G>C) n.819G>C | gnomAD v4 |
12 | g.102855119C>T | CA2620526195 | PAH | c.706+17G>A (n.706+17G>A) c.691+17G>A (n.691+17G>A) n.819G>A | gnomAD v4 |
12 | g.102855120C>A | CA242473806 | PAH | c.706+16G>T (n.706+16G>T) c.691+16G>T (n.691+16G>T) n.818G>T | dbSNP |
12 | g.102855120C= | CA2059448999 | PAH | c.706+16G= (n.706+16G=) c.691+16G= (n.691+16G=) n.818G= | |
12 | g.102855120C>T | CA242473817 | PAH | c.706+16G>A (n.706+16G>A) c.691+16G>A (n.691+16G>A) n.818G>A | dbSNP gnomAD v4 |
12 | g.102855121C= | CA2059449007 | PAH | c.706+15G= (n.706+15G=) c.691+15G= (n.691+15G=) n.817G= | |
12 | g.102855121C>T | CA951236072 | PAH | c.706+15G>A (n.706+15G>A) c.691+15G>A (n.691+15G>A) n.817G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102855122T>C | CA2620526199 | PAH | c.706+14A>G (n.706+14A>G) c.691+14A>G (n.691+14A>G) n.816A>G | gnomAD v4 |
12 | g.102855123G>T | CA2620526203 | PAH | c.706+13C>A (n.706+13C>A) c.691+13C>A (n.691+13C>A) n.815C>A | gnomAD v4 |
12 | g.102855124A>C | CA2580085707 | PAH | c.706+12T>G (n.706+12T>G) c.691+12T>G (n.691+12T>G) n.814T>G | ClinVar gnomAD v4 |
12 | g.102855125T>A | CA2059449010 | PAH | c.706+11A>T (n.706+11A>T) c.691+11A>T (n.691+11A>T) n.813A>T | ClinVar dbSNP gnomAD v4 |
12 | g.102855125T>G | CA2739277293 | PAH | c.706+11A>C (n.706+11A>C) c.691+11A>C (n.691+11A>C) n.813A>C | ClinVar |
12 | g.102855125T= | CA2059449009 | PAH | c.706+11A= (n.706+11A=) c.691+11A= (n.691+11A=) n.813A= | |
12 | g.102855126G>A | CA2620526213 | PAH | c.706+10C>T (n.706+10C>T) c.691+10C>T (n.691+10C>T) n.812C>T | gnomAD v4 |
12 | g.102855126G>T | CA2620526215 | PAH | c.706+10C>A (n.706+10C>A) c.691+10C>A (n.691+10C>A) n.812C>A | gnomAD v4 |
12 | g.102855127T>C | CA2575266909 | PAH | c.706+9A>G (n.706+9A>G) c.691+9A>G (n.691+9A>G) n.811A>G | ClinVar gnomAD v4 |
12 | g.102855127T>G | CA2620526219 | PAH | c.706+9A>C (n.706+9A>C) c.691+9A>C (n.691+9A>C) n.811A>C | gnomAD v4 |
12 | g.102855128G>A | CA2499221402 | PAH | c.706+8C>T (n.706+8C>T) c.691+8C>T (n.691+8C>T) n.810C>T | ClinVar dbSNP |
12 | g.102855128G>T | CA2573147929 | PAH | c.706+8C>A (n.706+8C>A) c.691+8C>A (n.691+8C>A) n.810C>A | ClinVar dbSNP |
12 | g.102855129del | CA2620526233 | PAH | c.706+8del (n.706+8del) c.691+8del (n.691+8del) n.810del | gnomAD v4 |
12 | g.102855129G>T | CA2575266910 | PAH | c.706+7C>A (n.706+7C>A) c.691+7C>A (n.691+7C>A) n.809C>A | gnomAD v4 |
12 | g.102855131C= | CA2059449018 | PAH | c.706+5G= (n.706+5G=) c.691+5G= (n.691+5G=) n.807G= | |
12 | g.102855131C>G | CA607598060 | PAH | c.706+5G>C (n.706+5G>C) c.691+5G>C (n.691+5G>C) n.807G>C | dbSNP gnomAD v2 |
12 | g.102855131C>T | CA1139532543 | PAH | c.706+5G>A (n.706+5G>A) c.691+5G>A (n.691+5G>A) n.807G>A | ClinVar dbSNP |
12 | g.102855134A>C | CA386296530 | PAH | c.706+2T>G (n.706+2T>G) c.691+2T>G (n.691+2T>G) n.804T>G | |
12 | g.102855134A>G | CA386296531 | PAH | c.706+2T>C (n.706+2T>C) c.691+2T>C (n.691+2T>C) n.804T>C | |
12 | g.102855134A>T | CA386296532 | PAH | c.706+2T>A (n.706+2T>A) c.691+2T>A (n.691+2T>A) n.804T>A | |
12 | g.102855135C>A | CA386296534 | PAH | c.706+1G>T (n.706+1G>T) c.691+1G>T (n.691+1G>T) n.803G>T | |
12 | g.102855135C>G | CA386296535 | PAH | c.706+1G>C (n.706+1G>C) c.691+1G>C (n.691+1G>C) n.803G>C | |
12 | g.102855135C>T | CA386296533 | PAH | c.706+1G>A (n.706+1G>A) c.691+1G>A (n.691+1G>A) n.803G>A | |
12 | g.102855136T>A | CA386296536 | PAH | c.706A>T (p.Thr236Ser) c.691A>T (p.Thr231Ser) n.802A>T c.706A>T (p.Ile236Phe) | |
12 | g.102855136T>C | CA386296537 | PAH | c.706A>G (p.Thr236Ala) c.691A>G (p.Thr231Ala) n.802A>G c.706A>G (p.Ile236Val) | |
12 | g.102855136T>G | CA386296538 | PAH | c.706A>C (p.Thr236Pro) c.691A>C (p.Thr231Pro) n.802A>C c.706A>C (p.Ile236Leu) | |
12 | g.102855137C>A | CA386296539 | PAH | c.705G>T (p.Gln235His) c.690G>T (p.Gln230His) n.801G>T | dbSNP |
12 | g.102855137C>G | CA386296540 | PAH | c.705G>C (p.Gln235His) c.690G>C (p.Gln230His) n.801G>C | |
12 | g.102855137C>T | CA481578364 | PAH | c.705G>A (p.Gln235=) c.690G>A (p.Gln230=) n.801G>A | |
12 | g.102855138T>A | CA386296541 | PAH | c.704A>T (p.Gln235Leu) c.689A>T (p.Gln230Leu) n.800A>T | |
12 | g.102855138T>C | CA386296542 | PAH | c.704A>G (p.Gln235Arg) c.689A>G (p.Gln230Arg) n.800A>G | |
12 | g.102855138T>G | CA229700 | PAH | c.704A>C (p.Gln235Pro) c.689A>C (p.Gln230Pro) n.800A>C | ClinVar dbSNP |
12 | g.102855138T= | CA2059449022 | PAH | c.704A= (p.Gln235=) c.689A= (p.Gln230=) n.800A= | |
12 | g.102855139G>A | CA16020845 | PAH | c.703C>T (p.Gln235Ter) c.688C>T (p.Gln230Ter) n.799C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102855139G>C | CA386296543 | PAH | c.703C>G (p.Gln235Glu) c.688C>G (p.Gln230Glu) n.799C>G | |
12 | g.102855139G= | CA2059449026 | PAH | c.703C= (p.Gln235=) c.688C= (p.Gln230=) n.799C= | |
12 | g.102855139G>T | CA386296544 | PAH | c.703C>A (p.Gln235Lys) c.688C>A (p.Gln230Lys) n.799C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102855140C>A | CA481578367 | PAH | c.702G>T (p.Leu234=) c.687G>T (p.Leu229=) n.798G>T | gnomAD v4 |
12 | g.102855140C= | CA2059449030 | PAH | c.702G= (p.Leu234=) c.687G= (p.Leu229=) n.798G= | |
12 | g.102855140C>G | CA481578368 | PAH | c.702G>C (p.Leu234=) c.687G>C (p.Leu229=) n.798G>C | |
12 | g.102855140C>T | CA242473833 | PAH | c.702G>A (p.Leu234=) c.687G>A (p.Leu229=) n.798G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855141A>C | CA386296546 | PAH | c.701T>G (p.Leu234Arg) c.686T>G (p.Leu229Arg) n.797T>G | |
12 | g.102855141A>G | CA386296547 | PAH | c.701T>C (p.Leu234Pro) c.686T>C (p.Leu229Pro) n.797T>C | |
12 | g.102855141A>T | CA386296545 | PAH | c.701T>A (p.Leu234Gln) c.686T>A (p.Leu229Gln) n.797T>A | |
12 | g.102855142G>A | CA481578369 | PAH | c.700C>T (p.Leu234=) c.685C>T (p.Leu229=) n.796C>T | gnomAD v4 |
12 | g.102855142G>C | CA386296548 | PAH | c.700C>G (p.Leu234Val) c.685C>G (p.Leu229Val) n.796C>G | |
12 | g.102855142G>T | CA386296549 | PAH | c.700C>A (p.Leu234Met) c.685C>A (p.Leu229Met) n.796C>A | |
12 | g.102855143G>A | CA481578371 | PAH | c.699C>T (p.Phe233=) c.684C>T (p.Phe228=) n.795C>T | dbSNP |
12 | g.102855143G>C | CA16020844 | PAH | c.699C>G (p.Phe233Leu) c.684C>G (p.Phe228Leu) n.795C>G | ClinVar dbSNP gnomAD v4 |
12 | g.102855143G= | CA2059449037 | PAH | c.699C= (p.Phe233=) c.684C= (p.Phe228=) n.795C= | |
12 | g.102855143G>T | CA229699 | PAH | c.699C>A (p.Phe233Leu) c.684C>A (p.Phe228Leu) n.795C>A | ClinVar dbSNP gnomAD v4 |
12 | g.102855144A= | CA2059449047 | PAH | c.698T= (p.Phe233=) c.683T= (p.Phe228=) n.794T= | |
12 | g.102855144A>C | CA386296552 | PAH | c.698T>G (p.Phe233Cys) c.683T>G (p.Phe228Cys) n.794T>G | gnomAD v4 |
12 | g.102855144A>G | CA386296551 | PAH | c.698T>C (p.Phe233Ser) c.683T>C (p.Phe228Ser) n.794T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.102855144A>T | CA386296550 | PAH | c.698T>A (p.Phe233Tyr) c.683T>A (p.Phe228Tyr) n.794T>A | |
12 | g.102855145A= | CA2059449057 | PAH | c.697T= (p.Phe233=) c.682T= (p.Phe228=) n.793T= | |
12 | g.102855145A>C | CA386296553 | PAH | c.697T>G (p.Phe233Val) c.682T>G (p.Phe228Val) n.793T>G | |
12 | g.102855145A>G | CA386296554 | PAH | c.697T>C (p.Phe233Leu) c.682T>C (p.Phe228Leu) n.793T>C | gnomAD v4 |
12 | g.102855145A>T | CA16020843 | PAH | c.697T>A (p.Phe233Ile) c.682T>A (p.Phe228Ile) n.793T>A | ClinVar dbSNP |
12 | g.102855146C>A | CA386296555 | PAH | c.696G>T (p.Gln232His) c.681G>T (p.Gln227His) n.792G>T | |
12 | g.102855146C= | CA229698 | PAH | c.696G= (p.Gln232=) c.681G= (p.Gln227=) n.792G= | |
12 | g.102855146C>G | CA6748880 | PAH | c.696G>C (p.Gln232His) c.681G>C (p.Gln227His) n.792G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102855146C>T | CA180268 | PAH | c.696G>A (p.Gln232=) c.681G>A (p.Gln227=) n.792G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855147T>A | CA386296557 | PAH | c.695A>T (p.Gln232Leu) c.680A>T (p.Gln227Leu) n.791A>T | |
12 | g.102855147T>C | CA386296558 | PAH | c.695A>G (p.Gln232Arg) c.680A>G (p.Gln227Arg) n.791A>G | dbSNP |
12 | g.102855147T>G | CA386296556 | PAH | c.695A>C (p.Gln232Pro) c.680A>C (p.Gln227Pro) n.791A>C | |
12 | g.102855147T= | CA2059449063 | PAH | c.695A= (p.Gln232=) c.680A= (p.Gln227=) n.791A= | |
12 | g.102855148G>A | CA229696 | PAH | c.694C>T (p.Gln232Ter) c.679C>T (p.Gln227Ter) n.790C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855148G>C | CA16020842 | PAH | c.694C>G (p.Gln232Glu) c.679C>G (p.Gln227Glu) n.790C>G | ClinVar dbSNP |
12 | g.102855148G= | CA2059449067 | PAH | c.694C= (p.Gln232=) c.679C= (p.Gln227=) n.790C= | |
12 | g.102855148G>T | CA386296559 | PAH | c.694C>A (p.Gln232Lys) c.679C>A (p.Gln227Lys) n.790C>A | |
12 | g.102855148_102855149delinsGA | CA2059449071 | PAH | c.693_694delinsTC (p.Ser231=) c.678_679delinsTC (p.Ser226=) n.789_790delinsTC | |
12 | g.102855150_102855151del | CA2580614530 | PAH | c.693_694del (p.Gln232ValfsTer?) c.678_679del (p.Gln227ValfsTer?) n.789_790del c.693_694del (p.Gln232IlefsTer?) c.693_694del (p.Gln232ValfsTer11) | ClinVar |
12 | g.102855149del | CA951236094 | PAH | c.693del (p.Gln232SerfsTer?) c.678del (p.Gln227SerfsTer?) n.789del c.693del (p.Gln232AsnfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102855149A= | CA2059449081 | PAH | c.693T= (p.Ser231=) c.678T= (p.Ser226=) n.789T= | |
12 | g.102855149A>C | CA481578374 | PAH | c.693T>G (p.Ser231=) c.678T>G (p.Ser226=) n.789T>G | |
12 | g.102855149A>G | CA481578376 | PAH | c.693T>C (p.Ser231=) c.678T>C (p.Ser226=) n.789T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102855149A>T | CA481578377 | PAH | c.693T>A (p.Ser231=) c.678T>A (p.Ser226=) n.789T>A | |
12 | g.102855150G>A | CA229695 | PAH | c.692C>T (p.Ser231Phe) c.677C>T (p.Ser226Phe) n.788C>T | ClinVar dbSNP |
12 | g.102855150G>C | CA386296560 | PAH | c.692C>G (p.Ser231Cys) c.677C>G (p.Ser226Cys) n.788C>G | |
12 | g.102855150G= | CA2059449089 | PAH | c.692C= (p.Ser231=) c.677C= (p.Ser226=) n.788C= | |
12 | g.102855150G>T | CA386296561 | PAH | c.692C>A (p.Ser231Tyr) c.677C>A (p.Ser226Tyr) n.788C>A | |
12 | g.102855151A= | CA2059449096 | PAH | c.691T= (p.Ser231=) c.676T= (p.Ser226=) n.787T= | |
12 | g.102855151A>C | CA386296562 | PAH | c.691T>G (p.Ser231Ala) c.676T>G (p.Ser226Ala) n.787T>G | |
12 | g.102855151A>G | CA229694 | PAH | c.691T>C (p.Ser231Pro) c.676T>C (p.Ser226Pro) n.787T>C | ClinVar dbSNP |
12 | g.102855151A>T | CA386296563 | PAH | c.691T>A (p.Ser231Thr) c.676T>A (p.Ser226Thr) n.787T>A | |
12 | g.102855151_102855152insC | CA16020841 | PAH | c.690_691insG (p.Ser231ValfsTer?) c.675_676insG (p.Ser226ValfsTer?) n.786_787insG c.690_691insG (p.Ser231ValfsTer13) | ClinVar dbSNP |
12 | g.102855152A>C | CA481578470 | PAH | c.690T>G (p.Val230=) c.675T>G (p.Val225=) n.786T>G | |
12 | g.102855152A>G | CA481578471 | PAH | c.690T>C (p.Val230=) c.675T>C (p.Val225=) n.786T>C | |
12 | g.102855152A>T | CA481578472 | PAH | c.690T>A (p.Val230=) c.675T>A (p.Val225=) n.786T>A | |
12 | g.102855153A= | CA2059449107 | PAH | c.689T= (p.Val230=) c.674T= (p.Val225=) n.785T= | |
12 | g.102855153A>C | CA229692 | PAH | c.689T>G (p.Val230Gly) c.674T>G (p.Val225Gly) n.785T>G | ClinVar dbSNP gnomAD v4 |
12 | g.102855153A>G | CA16020840 | PAH | c.689T>C (p.Val230Ala) c.674T>C (p.Val225Ala) n.785T>C | ClinVar dbSNP gnomAD v4 |
12 | g.102855153A>T | CA386296564 | PAH | c.689T>A (p.Val230Asp) c.674T>A (p.Val225Asp) n.785T>A | |
12 | g.102855154C>A | CA386296566 | PAH | c.688G>T (p.Val230Phe) c.673G>T (p.Val225Phe) n.784G>T | |
12 | g.102855154C= | CA2059449115 | PAH | c.688G= (p.Val230=) c.673G= (p.Val225=) n.784G= | |
12 | g.102855154C>G | CA386296565 | PAH | c.688G>C (p.Val230Leu) c.673G>C (p.Val225Leu) n.784G>C | |
12 | g.102855154C>T | CA286506 | PAH | c.688G>A (p.Val230Ile) c.673G>A (p.Val225Ile) n.784G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855155G>A | CA242473898 | PAH | c.687C>T (p.Asp229=) c.672C>T (p.Asp224=) n.783C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855155G>C | CA386296567 | PAH | c.687C>G (p.Asp229Glu) c.672C>G (p.Asp224Glu) n.783C>G | |
12 | g.102855155G= | CA2059449121 | PAH | c.687C= (p.Asp229=) c.672C= (p.Asp224=) n.783C= | |
12 | g.102855155G>T | CA386296568 | PAH | c.687C>A (p.Asp229Glu) c.672C>A (p.Asp224Glu) n.783C>A | |
12 | g.102855155_102855165delinsGTCTTCCAGCT | CA2059449122 | PAH | c.677_687delinsAGCTGGAAGAC (p.Gln226=) c.662_672delinsAGCTGGAAGAC (p.Gln221=) n.773_783delinsAGCTGGAAGAC | |
12 | g.102855155_102855353delinsTGG | CA2573147930 | PAH | c.510-21_687delinsCCA c.495-21_672delinsCCA n.606-21_783delinsCCA | ClinVar dbSNP |
12 | g.102855156T>A | CA386296569 | PAH | c.686A>T (p.Asp229Val) c.671A>T (p.Asp224Val) n.782A>T | |
12 | g.102855156T>C | CA16020839 | PAH | c.686A>G (p.Asp229Gly) c.671A>G (p.Asp224Gly) n.782A>G | |
12 | g.102855156T>G | CA386296570 | PAH | c.686A>C (p.Asp229Ala) c.671A>C (p.Asp224Ala) n.782A>C | |
12 | g.102855156dup | CA891843538 | PAH | c.686dup (p.Asp229GlufsTer?) c.671dup (p.Asp224GlufsTer?) n.782dup c.686dup (p.Asp229GlufsTer15) | ClinVar dbSNP |
12 | g.102855156_102855165del | CA1139660758 | PAH | c.677_686del (p.Gln226ProfsTer?) c.662_671del (p.Gln221ProfsTer?) n.773_782del | ClinVar dbSNP |
12 | g.102855157C>A | CA386296571 | PAH | c.685G>T (p.Asp229Tyr) c.670G>T (p.Asp224Tyr) n.781G>T | |
12 | g.102855157C>G | CA386296572 | PAH | c.685G>C (p.Asp229His) c.670G>C (p.Asp224His) n.781G>C | |
12 | g.102855157C>T | CA386296573 | PAH | c.685G>A (p.Asp229Asn) c.670G>A (p.Asp224Asn) n.781G>A | gnomAD v4 |
12 | g.102855158T>A | CA386296574 | PAH | c.684A>T (p.Glu228Asp) c.669A>T (p.Glu223Asp) n.780A>T | |
12 | g.102855158T>C | CA481578473 | PAH | c.684A>G (p.Glu228=) c.669A>G (p.Glu223=) n.780A>G | |
12 | g.102855158T>G | CA386296575 | PAH | c.684A>C (p.Glu228Asp) c.669A>C (p.Glu223Asp) n.780A>C | ClinVar dbSNP gnomAD v4 |
12 | g.102855159del | CA2575266911 | PAH | c.684del (p.Asp229ThrfsTer?) c.669del (p.Asp224ThrfsTer?) n.780del | |
12 | g.102855159T>A | CA386296576 | PAH | c.683A>T (p.Glu228Val) c.668A>T (p.Glu223Val) n.779A>T | |
12 | g.102855159T>C | CA386296577 | PAH | c.683A>G (p.Glu228Gly) c.668A>G (p.Glu223Gly) n.779A>G | |
12 | g.102855159T>G | CA386296578 | PAH | c.683A>C (p.Glu228Ala) c.668A>C (p.Glu223Ala) n.779A>C | |
12 | g.102855160C>A | CA16020838 | PAH | c.682G>T (p.Glu228Ter) c.667G>T (p.Glu223Ter) n.778G>T | ClinVar dbSNP |
12 | g.102855160C= | CA2059449138 | PAH | c.682G= (p.Glu228=) c.667G= (p.Glu223=) n.778G= | |
12 | g.102855160C>G | CA386296579 | PAH | c.682G>C (p.Glu228Gln) c.667G>C (p.Glu223Gln) n.778G>C | |
12 | g.102855160C>T | CA267669 | PAH | c.682G>A (p.Glu228Lys) c.667G>A (p.Glu223Lys) n.778G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.102855161C>A | CA481578474 | PAH | c.681G>T (p.Leu227=) c.666G>T (p.Leu222=) n.777G>T | |
12 | g.102855161C= | CA2059449146 | PAH | c.681G= (p.Leu227=) c.666G= (p.Leu222=) n.777G= | |
12 | g.102855161C>G | CA481578475 | PAH | c.681G>C (p.Leu227=) c.666G>C (p.Leu222=) n.777G>C | |
12 | g.102855161C>T | CA6748881 | PAH | c.681G>A (p.Leu227=) c.666G>A (p.Leu222=) n.777G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855162A>C | CA386296580 | PAH | c.680T>G (p.Leu227Arg) c.665T>G (p.Leu222Arg) n.776T>G | |
12 | g.102855162A>G | CA386296581 | PAH | c.680T>C (p.Leu227Pro) c.665T>C (p.Leu222Pro) n.776T>C | |
12 | g.102855162A>T | CA16020837 | PAH | c.680T>A (p.Leu227Gln) c.665T>A (p.Leu222Gln) n.776T>A | ClinVar dbSNP |
12 | g.102855163G>A | CA481578476 | PAH | c.679C>T (p.Leu227=) c.664C>T (p.Leu222=) n.775C>T | ClinVar |
12 | g.102855163G>C | CA386296582 | PAH | c.679C>G (p.Leu227Val) c.664C>G (p.Leu222Val) n.775C>G | ClinVar dbSNP |
12 | g.102855163G>T | CA386296583 | PAH | c.679C>A (p.Leu227Met) c.664C>A (p.Leu222Met) n.775C>A | ClinVar |
12 | g.102855164C>A | CA6748882 | PAH | c.678G>T (p.Gln226His) c.663G>T (p.Gln221His) n.774G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102855164C= | CA2059449157 | PAH | c.678G= (p.Gln226=) c.663G= (p.Gln221=) n.774G= | |
12 | g.102855164C>G | CA229691 | PAH | c.678G>C (p.Gln226His) c.663G>C (p.Gln221His) n.774G>C | ClinVar dbSNP |
12 | g.102855164C>T | CA481578477 | PAH | c.678G>A (p.Gln226=) c.663G>A (p.Gln221=) n.774G>A | |
12 | g.102855165T>A | CA386296584 | PAH | c.677A>T (p.Gln226Leu) c.662A>T (p.Gln221Leu) n.773A>T | |
12 | g.102855165T>C | CA386296585 | PAH | c.677A>G (p.Gln226Arg) c.662A>G (p.Gln221Arg) n.773A>G | |
12 | g.102855165T>G | CA386296586 | PAH | c.677A>C (p.Gln226Pro) c.662A>C (p.Gln221Pro) n.773A>C | |
12 | g.102855166G>A | CA229689 | PAH | c.676C>T (p.Gln226Ter) c.661C>T (p.Gln221Ter) n.772C>T | ClinVar dbSNP gnomAD v4 |
12 | g.102855166G>C | CA386296587 | PAH | c.676C>G (p.Gln226Glu) c.661C>G (p.Gln221Glu) n.772C>G | |
12 | g.102855166G= | CA2059449166 | PAH | c.676C= (p.Gln226=) c.661C= (p.Gln221=) n.772C= | |
12 | g.102855166G>T | CA16020836 | PAH | c.676C>A (p.Gln226Lys) c.661C>A (p.Gln221Lys) n.772C>A | ClinVar dbSNP gnomAD v4 |
12 | g.102855169del | CA2580085710 | PAH | c.676del (p.Gln226SerfsTer?) c.661del (p.Gln221SerfsTer?) n.772del | ClinVar |
12 | g.102855167G>A | CA481578481 | PAH | c.675C>T (p.Pro225=) c.660C>T (p.Pro220=) n.771C>T | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.102855167G>C | CA481578482 | PAH | c.675C>G (p.Pro225=) c.660C>G (p.Pro220=) n.771C>G | |
12 | g.102855167G>T | CA481578479 | PAH | c.675C>A (p.Pro225=) c.660C>A (p.Pro220=) n.771C>A | |
12 | g.102855168G>A | CA6748883 | PAH | c.674C>T (p.Pro225Leu) c.659C>T (p.Pro220Leu) n.770C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102855168G>C | CA229688 | PAH | c.674C>G (p.Pro225Arg) c.659C>G (p.Pro220Arg) n.770C>G | ClinVar dbSNP gnomAD v4 |
12 | g.102855168G= | CA2059449179 | PAH | c.674C= (p.Pro225=) c.659C= (p.Pro220=) n.770C= | |
12 | g.102855168G>T | CA386296588 | PAH | c.674C>A (p.Pro225His) c.659C>A (p.Pro220His) n.770C>A | |
12 | g.102855168_102855175dup | CA16021000 | PAH | c.667_674dup (p.Gln226ThrfsTer?) c.652_659dup (p.Gln221ThrfsTer?) n.763_770dup | ClinVar dbSNP |
12 | g.102855169G>A | CA386296589 | PAH | c.673C>T (p.Pro225Ser) c.658C>T (p.Pro220Ser) n.769C>T | |
12 | g.102855169G>C | CA229686 | PAH | c.673C>G (p.Pro225Ala) c.658C>G (p.Pro220Ala) n.769C>G | ClinVar dbSNP gnomAD v4 |
12 | g.102855169G= | CA2059449194 | PAH | c.673C= (p.Pro225=) c.658C= (p.Pro220=) n.769C= | |
12 | g.102855169G>T | CA229685 | PAH | c.673C>A (p.Pro225Thr) c.658C>A (p.Pro220Thr) n.769C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102855170A= | CA2059449207 | PAH | c.672T= (p.Ile224=) c.657T= (p.Ile219=) n.768T= | |
12 | g.102855170A>C | CA229684 | PAH | c.672T>G (p.Ile224Met) c.657T>G (p.Ile219Met) n.768T>G | ClinVar dbSNP |
12 | g.102855170A>G | CA481578487 | PAH | c.672T>C (p.Ile224=) c.657T>C (p.Ile219=) n.768T>C | |
12 | g.102855170A>T | CA481578486 | PAH | c.672T>A (p.Ile224=) c.657T>A (p.Ile219=) n.768T>A | |
12 | g.102855171A= | CA2059449214 | PAH | c.671T= (p.Ile224=) c.656T= (p.Ile219=) n.767T= | |
12 | g.102855171A>C | CA386296590 | PAH | c.671T>G (p.Ile224Ser) c.656T>G (p.Ile219Ser) n.767T>G | |
12 | g.102855171A>G | CA229682 | PAH | c.671T>C (p.Ile224Thr) c.656T>C (p.Ile219Thr) n.767T>C | ClinVar dbSNP gnomAD v4 |
12 | g.102855171A>T | CA386296591 | PAH | c.671T>A (p.Ile224Asn) c.656T>A (p.Ile219Asn) n.767T>A | |
12 | g.102855172T>A | CA386296592 | PAH | c.670A>T (p.Ile224Phe) c.655A>T (p.Ile219Phe) n.766A>T | |
12 | g.102855172T>C | CA386296593 | PAH | c.670A>G (p.Ile224Val) c.655A>G (p.Ile219Val) n.766A>G | ClinVar gnomAD v4 |
12 | g.102855172T>G | CA386296594 | PAH | c.670A>C (p.Ile224Leu) c.655A>C (p.Ile219Leu) n.766A>C | ClinVar gnomAD v4 |
12 | g.102855173del | CA16020835 | PAH | c.669del (p.Asn223LysfsTer?) c.654del (p.Asn218LysfsTer?) n.765del | ClinVar |
12 | g.102855173G>A | CA481578493 | PAH | c.669C>T (p.Asn223=) c.654C>T (p.Asn218=) n.765C>T | ClinVar dbSNP |
12 | g.102855173G>C | CA386296595 | PAH | c.669C>G (p.Asn223Lys) c.654C>G (p.Asn218Lys) n.765C>G | |
12 | g.102855173G= | CA2059449224 | PAH | c.669C= (p.Asn223=) c.654C= (p.Asn218=) n.765C= | |
12 | g.102855173G>T | CA386296596 | PAH | c.669C>A (p.Asn223Lys) c.654C>A (p.Asn218Lys) n.765C>A | |
12 | g.102855174T>A | CA6748885 | PAH | c.668A>T (p.Asn223Ile) c.653A>T (p.Asn218Ile) n.764A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855174T>C | CA6748884 | PAH | c.668A>G (p.Asn223Ser) c.653A>G (p.Asn218Ser) n.764A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855174T>G | CA386296597 | PAH | c.668A>C (p.Asn223Thr) c.653A>C (p.Asn218Thr) n.764A>C | |
12 | g.102855174T= | CA2059449229 | PAH | c.668A= (p.Asn223=) c.653A= (p.Asn218=) n.764A= | |
12 | g.102855175T>A | CA16020834 | PAH | c.667A>T (p.Asn223Tyr) c.652A>T (p.Asn218Tyr) n.763A>T | ClinVar dbSNP |
12 | g.102855175T>C | CA386296599 | PAH | c.667A>G (p.Asn223Asp) c.652A>G (p.Asn218Asp) n.763A>G | |
12 | g.102855175T>G | CA386296598 | PAH | c.667A>C (p.Asn223His) c.652A>C (p.Asn218His) n.763A>C | |
12 | g.102855177_102855353del | CA16020833 | PAH | c.510-19_667del c.495-19_652del n.606-19_763del | ClinVar |
12 | g.102855176A= | CA2059449232 | PAH | c.666T= (p.Asp222=) c.651T= (p.Asp217=) n.762T= | |
12 | g.102855176A>C | CA386296600 | PAH | c.666T>G (p.Asp222Glu) c.651T>G (p.Asp217Glu) n.762T>G | ClinVar dbSNP |
12 | g.102855176A>G | CA481578495 | PAH | c.666T>C (p.Asp222=) c.651T>C (p.Asp217=) n.762T>C | gnomAD v4 COSMIC |
12 | g.102855176A>T | CA386296601 | PAH | c.666T>A (p.Asp222Glu) c.651T>A (p.Asp217Glu) n.762T>A | |
12 | g.102855176_102855178delinsATC | CA2059449231 | PAH | c.664_666delinsGAT (p.Asp222=) c.649_651delinsGAT (p.Asp217=) n.760_762delinsGAT | |
12 | g.102855177T>A | CA229681 | PAH | c.665A>T (p.Asp222Val) c.650A>T (p.Asp217Val) n.761A>T | ClinVar dbSNP gnomAD v4 |
12 | g.102855177T>C | CA229679 | PAH | c.665A>G (p.Asp222Gly) c.650A>G (p.Asp217Gly) n.761A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.102855177T>G | CA386296602 | PAH | c.665A>C (p.Asp222Ala) c.650A>C (p.Asp217Ala) n.761A>C | gnomAD v4 |
12 | g.102855177T= | CA2059449244 | PAH | c.665A= (p.Asp222=) c.650A= (p.Asp217=) n.761A= | |
12 | g.102855178_102855179del | CA229678 | PAH | c.664_665del (p.Asp222Ter) c.649_650del (p.Asp217Ter) n.760_761del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855179_102855181del | CA2620526441 | PAH | c.663_665del (p.Glu221del) c.648_650del (p.Glu216del) n.759_761del | gnomAD v4 |
12 | g.102855178C>A | CA386296605 | PAH | c.664G>T (p.Asp222Tyr) c.649G>T (p.Asp217Tyr) n.760G>T | gnomAD v4 |
12 | g.102855178C>G | CA386296603 | PAH | c.664G>C (p.Asp222His) c.649G>C (p.Asp217His) n.760G>C | |
12 | g.102855178C>T | CA386296604 | PAH | c.664G>A (p.Asp222Asn) c.649G>A (p.Asp217Asn) n.760G>A | |
12 | g.102855179T>A | CA386296606 | PAH | c.663A>T (p.Glu221Asp) c.648A>T (p.Glu216Asp) n.759A>T | |
12 | g.102855179T>C | CA481578497 | PAH | c.663A>G (p.Glu221=) c.648A>G (p.Glu216=) n.759A>G | |
12 | g.102855179T>G | CA386296607 | PAH | c.663A>C (p.Glu221Asp) c.648A>C (p.Glu216Asp) n.759A>C | |
12 | g.102855180T>A | CA386296608 | PAH | c.662A>T (p.Glu221Val) c.647A>T (p.Glu216Val) n.758A>T | |
12 | g.102855180T>C | CA229677 | PAH | c.662A>G (p.Glu221Gly) c.647A>G (p.Glu216Gly) n.758A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.102855180T>G | CA386296609 | PAH | c.662A>C (p.Glu221Ala) c.647A>C (p.Glu216Ala) n.758A>C | |
12 | g.102855180T= | CA2059449252 | PAH | c.662A= (p.Glu221=) c.647A= (p.Glu216=) n.758A= | |
12 | g.102855181C>A | CA386296612 | PAH | c.661G>T (p.Glu221Ter) c.646G>T (p.Glu216Ter) n.757G>T | |
12 | g.102855181C>G | CA386296610 | PAH | c.661G>C (p.Glu221Gln) c.646G>C (p.Glu216Gln) n.757G>C | |
12 | g.102855181C>T | CA386296611 | PAH | c.661G>A (p.Glu221Lys) c.646G>A (p.Glu216Lys) n.757G>A | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.102855182A>C | CA386296613 | PAH | c.660T>G (p.His220Gln) c.645T>G (p.His215Gln) n.756T>G | |
12 | g.102855182A>G | CA481578499 | PAH | c.660T>C (p.His220=) c.645T>C (p.His215=) n.756T>C | |
12 | g.102855182A>T | CA386296614 | PAH | c.660T>A (p.His220Gln) c.645T>A (p.His215Gln) n.756T>A | |
12 | g.102855183T>A | CA386296615 | PAH | c.659A>T (p.His220Leu) c.644A>T (p.His215Leu) n.755A>T | |
12 | g.102855183T>C | CA386296616 | PAH | c.659A>G (p.His220Arg) c.644A>G (p.His215Arg) n.755A>G | dbSNP gnomAD v4 |
12 | g.102855183T>G | CA16020832 | PAH | c.659A>C (p.His220Pro) c.644A>C (p.His215Pro) n.755A>C | ClinVar dbSNP |
12 | g.102855183T= | CA2059449254 | PAH | c.659A= (p.His220=) c.644A= (p.His215=) n.755A= | |
12 | g.102855184G>A | CA386296617 | PAH | c.658C>T (p.His220Tyr) c.643C>T (p.His215Tyr) n.754C>T | |
12 | g.102855184G>C | CA386296618 | PAH | c.658C>G (p.His220Asp) c.643C>G (p.His215Asp) n.754C>G | COSMIC |
12 | g.102855184G>T | CA386296619 | PAH | c.658C>A (p.His220Asn) c.643C>A (p.His215Asn) n.754C>A | |
12 | g.102855185G>A | CA481578503 | PAH | c.657C>T (p.Phe219=) c.642C>T (p.Phe214=) n.753C>T | ClinVar |
12 | g.102855185G>C | CA386296620 | PAH | c.657C>G (p.Phe219Leu) c.642C>G (p.Phe214Leu) n.753C>G | |
12 | g.102855185G>T | CA386296621 | PAH | c.657C>A (p.Phe219Leu) c.642C>A (p.Phe214Leu) n.753C>A | |
12 | g.102855186A= | CA2059449262 | PAH | c.656T= (p.Phe219=) c.641T= (p.Phe214=) n.752T= | |
12 | g.102855186A>C | CA386296622 | PAH | c.656T>G (p.Phe219Cys) c.641T>G (p.Phe214Cys) n.752T>G | |
12 | g.102855186A>G | CA16020831 | PAH | c.656T>C (p.Phe219Ser) c.641T>C (p.Phe214Ser) n.752T>C | ClinVar dbSNP |
12 | g.102855186A>T | CA386296623 | PAH | c.656T>A (p.Phe219Tyr) c.641T>A (p.Phe214Tyr) n.752T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.102855187A>C | CA386296626 | PAH | c.655T>G (p.Phe219Val) c.640T>G (p.Phe214Val) n.751T>G | |
12 | g.102855187A>G | CA386296624 | PAH | c.655T>C (p.Phe219Leu) c.640T>C (p.Phe214Leu) n.751T>C | |
12 | g.102855187A>T | CA386296625 | PAH | c.655T>A (p.Phe219Ile) c.640T>A (p.Phe214Ile) n.751T>A | |
12 | g.102855188G>A | CA242473996 | PAH | c.654C>T (p.Gly218=) c.639C>T (p.Gly213=) n.750C>T | ClinVar dbSNP |
12 | g.102855188G>C | CA481578507 | PAH | c.654C>G (p.Gly218=) c.639C>G (p.Gly213=) n.750C>G | ClinVar dbSNP |
12 | g.102855188G= | CA2059449271 | PAH | c.654C= (p.Gly218=) c.639C= (p.Gly213=) n.750C= | |
12 | g.102855188G>T | CA481578506 | PAH | c.654C>A (p.Gly218=) c.639C>A (p.Gly213=) n.750C>A | |
12 | g.102855189C>A | CA229676 | PAH | c.653G>T (p.Gly218Val) c.638G>T (p.Gly213Val) n.749G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855189C= | CA2059449280 | PAH | c.653G= (p.Gly218=) c.638G= (p.Gly213=) n.749G= | |
12 | g.102855189C>G | CA386296627 | PAH | c.653G>C (p.Gly218Ala) c.638G>C (p.Gly213Ala) n.749G>C | |
12 | g.102855189C>T | CA386296628 | PAH | c.653G>A (p.Gly218Asp) c.638G>A (p.Gly213Asp) n.749G>A | |
12 | g.102855190del | CA16020830 | PAH | c.653del (p.Gly218AlafsTer?) c.638del (p.Gly213AlafsTer?) n.749del | |
12 | g.102855190C>A | CA386296629 | PAH | c.652G>T (p.Gly218Cys) c.637G>T (p.Gly213Cys) n.748G>T | |
12 | g.102855190C>G | CA386296630 | PAH | c.652G>C (p.Gly218Arg) c.637G>C (p.Gly213Arg) n.748G>C | |
12 | g.102855190C>T | CA386296631 | PAH | c.652G>A (p.Gly218Ser) c.637G>A (p.Gly213Ser) n.748G>A | |
12 | g.102855191A>C | CA386296632 | PAH | c.651T>G (p.Cys217Trp) c.636T>G (p.Cys212Trp) n.747T>G | |
12 | g.102855191A>G | CA481578511 | PAH | c.651T>C (p.Cys217=) c.636T>C (p.Cys212=) n.747T>C | ClinVar dbSNP |
12 | g.102855191A>T | CA386296633 | PAH | c.651T>A (p.Cys217Ter) c.636T>A (p.Cys212Ter) n.747T>A | |
12 | g.102855192C>A | CA386296634 | PAH | c.650G>T (p.Cys217Phe) c.635G>T (p.Cys212Phe) n.746G>T | ClinVar |
12 | g.102855192C= | CA2059449293 | PAH | c.650G= (p.Cys217=) c.635G= (p.Cys212=) n.746G= | |
12 | g.102855192C>G | CA386296635 | PAH | c.650G>C (p.Cys217Ser) c.635G>C (p.Cys212Ser) n.746G>C | |
12 | g.102855192C>T | CA229674 | PAH | c.650G>A (p.Cys217Tyr) c.635G>A (p.Cys212Tyr) n.746G>A | ClinVar dbSNP |
12 | g.102855193A= | CA2059449306 | PAH | c.649T= (p.Cys217=) c.634T= (p.Cys212=) n.745T= | |
12 | g.102855193A>C | CA229673 | PAH | c.649T>G (p.Cys217Gly) c.634T>G (p.Cys212Gly) n.745T>G | ClinVar dbSNP |
12 | g.102855193A>G | CA229671 | PAH | c.649T>C (p.Cys217Arg) c.634T>C (p.Cys212Arg) n.745T>C | ClinVar dbSNP gnomAD v4 |
12 | g.102855193A>T | CA386296636 | PAH | c.649T>A (p.Cys217Ser) c.634T>A (p.Cys212Ser) n.745T>A | |
12 | g.102855194G>A | CA481578515 | PAH | c.648C>T (p.Tyr216=) c.633C>T (p.Tyr211=) n.744C>T | |
12 | g.102855194G>C | CA229669 | PAH | c.648C>G (p.Tyr216Ter) c.633C>G (p.Tyr211Ter) n.744C>G | ClinVar dbSNP gnomAD v4 |
12 | g.102855194G= | CA2059449318 | PAH | c.648C= (p.Tyr216=) c.633C= (p.Tyr211=) n.744C= | |
12 | g.102855194G>T | CA386296637 | PAH | c.648C>A (p.Tyr216Ter) c.633C>A (p.Tyr211Ter) n.744C>A | |
12 | g.102855195T>A | CA386296638 | PAH | c.647A>T (p.Tyr216Phe) c.632A>T (p.Tyr211Phe) n.743A>T | |
12 | g.102855195T>C | CA386296639 | PAH | c.647A>G (p.Tyr216Cys) c.632A>G (p.Tyr211Cys) n.743A>G | |
12 | g.102855195T>G | CA386296640 | PAH | c.647A>C (p.Tyr216Ser) c.632A>C (p.Tyr211Ser) n.743A>C | |
12 | g.102855196A>C | CA386296641 | PAH | c.646T>G (p.Tyr216Asp) c.631T>G (p.Tyr211Asp) n.742T>G | |
12 | g.102855196A>G | CA386296642 | PAH | c.646T>C (p.Tyr216His) c.631T>C (p.Tyr211His) n.742T>C | |
12 | g.102855196A>T | CA386296643 | PAH | c.646T>A (p.Tyr216Asn) c.631T>A (p.Tyr211Asn) n.742T>A | |
12 | g.102855197C>A | CA386296644 | PAH | c.645G>T (p.Lys215Asn) c.630G>T (p.Lys210Asn) n.741G>T | |
12 | g.102855197C= | CA2059449324 | PAH | c.645G= (p.Lys215=) c.630G= (p.Lys210=) n.741G= | |
12 | g.102855197C>G | CA386296645 | PAH | c.645G>C (p.Lys215Asn) c.630G>C (p.Lys210Asn) n.741G>C | |
12 | g.102855197C>T | CA481578519 | PAH | c.645G>A (p.Lys215=) c.630G>A (p.Lys210=) n.741G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102855198T>A | CA386296646 | PAH | c.644A>T (p.Lys215Met) c.629A>T (p.Lys210Met) n.740A>T | COSMIC |
12 | g.102855198T>C | CA386296647 | PAH | c.644A>G (p.Lys215Arg) c.629A>G (p.Lys210Arg) n.740A>G | |
12 | g.102855198T>G | CA386296648 | PAH | c.644A>C (p.Lys215Thr) c.629A>C (p.Lys210Thr) n.740A>C | |
12 | g.102855199T>A | CA386296650 | PAH | c.643A>T (p.Lys215Ter) c.628A>T (p.Lys210Ter) n.739A>T | |
12 | g.102855199T>C | CA386296651 | PAH | c.643A>G (p.Lys215Glu) c.628A>G (p.Lys210Glu) n.739A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855199T>G | CA386296649 | PAH | c.643A>C (p.Lys215Gln) c.628A>C (p.Lys210Gln) n.739A>C | |
12 | g.102855199T= | CA2059449327 | PAH | c.643A= (p.Lys215=) c.628A= (p.Lys210=) n.739A= | |
12 | g.102855200T>A | CA386296652 | PAH | c.642A>T (p.Glu214Asp) c.627A>T (p.Glu209Asp) n.738A>T | |
12 | g.102855200T>C | CA6748886 | PAH | c.642A>G (p.Glu214=) c.627A>G (p.Glu209=) n.738A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102855200T>G | CA386296653 | PAH | c.642A>C (p.Glu214Asp) c.627A>C (p.Glu209Asp) n.738A>C | |
12 | g.102855200T= | CA2059449333 | PAH | c.642A= (p.Glu214=) c.627A= (p.Glu209=) n.738A= | |
12 | g.102855201T>A | CA386296654 | PAH | c.641A>T (p.Glu214Val) c.626A>T (p.Glu209Val) n.737A>T | |
12 | g.102855201T>C | CA386296655 | PAH | c.641A>G (p.Glu214Gly) c.626A>G (p.Glu209Gly) n.737A>G | ClinVar gnomAD v4 |
12 | g.102855201T>G | CA386296656 | PAH | c.641A>C (p.Glu214Ala) c.626A>C (p.Glu209Ala) n.737A>C | |
12 | g.102855202C>A | CA386296657 | PAH | c.640G>T (p.Glu214Ter) c.625G>T (p.Glu209Ter) n.736G>T | ClinVar |
12 | g.102855202C>G | CA386296658 | PAH | c.640G>C (p.Glu214Gln) c.625G>C (p.Glu209Gln) n.736G>C | gnomAD v4 |
12 | g.102855202C>T | CA386296659 | PAH | c.640G>A (p.Glu214Lys) c.625G>A (p.Glu209Lys) n.736G>A | COSMIC |
12 | g.102855203A= | CA2059449342 | PAH | c.639T= (p.Leu213=) c.624T= (p.Leu208=) n.735T= | |
12 | g.102855203A>C | CA481578525 | PAH | c.639T>G (p.Leu213=) c.624T>G (p.Leu208=) n.735T>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.102855203A>G | CA481578526 | PAH | c.639T>C (p.Leu213=) c.624T>C (p.Leu208=) n.735T>C | |
12 | g.102855203A>T | CA481578527 | PAH | c.639T>A (p.Leu213=) c.624T>A (p.Leu208=) n.735T>A | |
12 | g.102855204A= | CA2059449346 | PAH | c.638T= (p.Leu213=) c.623T= (p.Leu208=) n.734T= | |
12 | g.102855204A>C | CA386296660 | PAH | c.638T>G (p.Leu213Arg) c.623T>G (p.Leu208Arg) n.734T>G | |
12 | g.102855204A>G | CA273109 | PAH | c.638T>C (p.Leu213Pro) c.623T>C (p.Leu208Pro) n.734T>C | ClinVar dbSNP gnomAD v4 |
12 | g.102855204A>T | CA386296661 | PAH | c.638T>A (p.Leu213His) c.623T>A (p.Leu208His) n.734T>A | |
12 | g.102855205G>A | CA386296662 | PAH | c.637C>T (p.Leu213Phe) c.622C>T (p.Leu208Phe) n.733C>T | ClinVar dbSNP gnomAD v4 |
12 | g.102855205G>C | CA386296663 | PAH | c.637C>G (p.Leu213Val) c.622C>G (p.Leu208Val) n.733C>G | |
12 | g.102855205G= | CA2059449347 | PAH | c.637C= (p.Leu213=) c.622C= (p.Leu208=) n.733C= | |
12 | g.102855205G>T | CA386296664 | PAH | c.637C>A (p.Leu213Ile) c.622C>A (p.Leu208Ile) n.733C>A |