UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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 | |
| 12 | g.102855206A>C | CA481578531 | PAH | c.636T>G (p.Leu212=) c.621T>G (p.Leu207=) n.732T>G | |
| 12 | g.102855206A>G | CA481578532 | PAH | c.636T>C (p.Leu212=) c.621T>C (p.Leu207=) n.732T>C | |
| 12 | g.102855206A>T | CA481578533 | PAH | c.636T>A (p.Leu212=) c.621T>A (p.Leu207=) n.732T>A | |
| 12 | g.102855207del | CA2695217160 | PAH | c.636del (p.Glu214LysfsTer?) c.621del (p.Glu209LysfsTer?) n.732del | |
| 12 | g.102855207A= | CA2059449351 | PAH | c.635T= (p.Leu212=) c.620T= (p.Leu207=) n.731T= | |
| 12 | g.102855207A>C | CA386296665 | PAH | c.635T>G (p.Leu212Arg) c.620T>G (p.Leu207Arg) n.731T>G | |
| 12 | g.102855207A>G | CA229668 | PAH | c.635T>C (p.Leu212Pro) c.620T>C (p.Leu207Pro) n.731T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855207A>T | CA386296666 | PAH | c.635T>A (p.Leu212His) c.620T>A (p.Leu207His) n.731T>A | |
| 12 | g.102855208G>A | CA386296667 | PAH | c.634C>T (p.Leu212Phe) c.619C>T (p.Leu207Phe) n.730C>T | |
| 12 | g.102855208G>C | CA386296668 | PAH | c.634C>G (p.Leu212Val) c.619C>G (p.Leu207Val) n.730C>G | |
| 12 | g.102855208G>T | CA386296669 | PAH | c.634C>A (p.Leu212Ile) c.619C>A (p.Leu207Ile) n.730C>A | |
| 12 | g.102855209T>A | CA481578536 | PAH | c.633A>T (p.Pro211=) c.618A>T (p.Pro206=) n.729A>T | |
| 12 | g.102855209T>C | CA481578538 | PAH | c.633A>G (p.Pro211=) c.618A>G (p.Pro206=) n.729A>G | |
| 12 | g.102855209T>G | CA481578537 | PAH | c.633A>C (p.Pro211=) c.618A>C (p.Pro206=) n.729A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855209T= | CA2059449358 | PAH | c.633A= (p.Pro211=) c.618A= (p.Pro206=) n.729A= | |
| 12 | g.102855209_102855210delinsTG | CA2059449357 | PAH | c.632_633delinsCA (p.Pro211=) c.617_618delinsCA (p.Pro206=) n.728_729delinsCA | |
| 12 | g.102855210G>A | CA267667 | PAH | c.632C>T (p.Pro211Leu) c.617C>T (p.Pro206Leu) n.728C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855210G>C | CA386296670 | PAH | c.632C>G (p.Pro211Arg) c.617C>G (p.Pro206Arg) n.728C>G | |
| 12 | g.102855210G= | CA2059449370 | PAH | c.632C= (p.Pro211=) c.617C= (p.Pro206=) n.728C= | |
| 12 | g.102855210G>T | CA386296671 | PAH | c.632C>A (p.Pro211Gln) c.617C>A (p.Pro206Gln) n.728C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855211dup | CA2580085713 | PAH | c.632dup (p.Leu212ThrfsTer3) c.617dup (p.Leu207ThrfsTer3) n.728dup | ClinVar |
| 12 | g.102855211del | CA229667 | PAH | c.632del (p.Pro211HisfsTer?) c.617del (p.Pro206HisfsTer?) n.728del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855211G>A | CA386296672 | PAH | c.631C>T (p.Pro211Ser) c.616C>T (p.Pro206Ser) n.727C>T | COSMIC |
| 12 | g.102855211G>C | CA386296673 | PAH | c.631C>G (p.Pro211Ala) c.616C>G (p.Pro206Ala) n.727C>G | |
| 12 | g.102855211G= | CA2059449376 | PAH | c.631C= (p.Pro211=) c.616C= (p.Pro206=) n.727C= | |
| 12 | g.102855211G>T | CA229666 | PAH | c.631C>A (p.Pro211Thr) c.616C>A (p.Pro206Thr) n.727C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |
| 12 | g.102855225T>A | CA386296703 | PAH | c.617A>T (p.Tyr206Phe) c.602A>T (p.Tyr201Phe) n.713A>T | |
| 12 | g.102855225T>C | CA229660 | PAH | c.617A>G (p.Tyr206Cys) c.602A>G (p.Tyr201Cys) n.713A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855225T>G | CA386296704 | PAH | c.617A>C (p.Tyr206Ser) c.602A>C (p.Tyr201Ser) n.713A>C | |
| 12 | g.102855225T= | CA2059449415 | PAH | c.617A= (p.Tyr206=) c.602A= (p.Tyr201=) n.713A= | |
| 12 | g.102855226A= | CA2059449418 | PAH | c.616T= (p.Tyr206=) c.601T= (p.Tyr201=) n.712T= | |
| 12 | g.102855226A>C | CA229659 | PAH | c.616T>G (p.Tyr206Asp) c.601T>G (p.Tyr201Asp) n.712T>G | ClinVar dbSNP |
| 12 | g.102855226A>G | CA386296706 | PAH | c.616T>C (p.Tyr206His) c.601T>C (p.Tyr201His) n.712T>C | |
| 12 | g.102855226A>T | CA386296705 | PAH | c.616T>A (p.Tyr206Asn) c.601T>A (p.Tyr201Asn) n.712T>A | |
| 12 | g.102855227C>A | CA386296707 | PAH | c.615G>T (p.Glu205Asp) c.600G>T (p.Glu200Asp) n.711G>T | |
| 12 | g.102855227C= | CA2059449426 | PAH | c.615G= (p.Glu205=) c.600G= (p.Glu200=) n.711G= | |
| 12 | g.102855227C>G | CA312804 | PAH | c.615G>C (p.Glu205Asp) c.600G>C (p.Glu200Asp) n.711G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855227C>T | CA6748888 | PAH | c.615G>A (p.Glu205=) c.600G>A (p.Glu200=) n.711G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855227_102855249delinsCTCATAGCAAGCATGGGTTTTAT | CA2059449425 | PAH | c.593_615delinsATAAAACCCATGCTTGCTATGAG (p.Tyr198=) c.578_600delinsATAAAACCCATGCTTGCTATGAG (p.Tyr193=) n.689_711delinsATAAAACCCATGCTTGCTATGAG | |
| 12 | g.102855228T>A | CA386296708 | PAH | c.614A>T (p.Glu205Val) c.599A>T (p.Glu200Val) n.710A>T | |
| 12 | g.102855228T>C | CA386296709 | PAH | c.614A>G (p.Glu205Gly) c.599A>G (p.Glu200Gly) n.710A>G | ClinVar dbSNP |
| 12 | g.102855228T>G | CA229658 | PAH | c.614A>C (p.Glu205Ala) c.599A>C (p.Glu200Ala) n.710A>C | ClinVar dbSNP |
| 12 | g.102855228T= | CA2059449435 | PAH | c.614A= (p.Glu205=) c.599A= (p.Glu200=) n.710A= | |
| 12 | g.102855228_102855249del | CA229639 | PAH | c.593_614del (p.Tyr198CysfsTer?) c.578_599del (p.Tyr193CysfsTer?) n.689_710del | ClinVar dbSNP |
| 12 | g.102855228_102855250delinsTCATAGCAAGCATGGGTTTTATA | CA2059449433 | PAH | c.592_614delinsTATAAAACCCATGCTTGCTATGA (p.Tyr198=) c.577_599delinsTATAAAACCCATGCTTGCTATGA (p.Tyr193=) n.688_710delinsTATAAAACCCATGCTTGCTATGA | |
| 12 | g.102855229C>A | CA386296710 | PAH | c.613G>T (p.Glu205Ter) c.598G>T (p.Glu200Ter) n.709G>T | |
| 12 | g.102855229C= | CA2059449450 | PAH | c.613G= (p.Glu205=) c.598G= (p.Glu200=) n.709G= | |
| 12 | g.102855229C>G | CA386296711 | PAH | c.613G>C (p.Glu205Gln) c.598G>C (p.Glu200Gln) n.709G>C | |
| 12 | g.102855229C>T | CA229656 | PAH | c.613G>A (p.Glu205Lys) c.598G>A (p.Glu200Lys) n.709G>A | ClinVar dbSNP |
| 12 | g.102855229_102855252delinsCATAGCAAGCATGGGTTTTATACA | CA2059449453 | PAH | c.590_613delinsTGTATAAAACCCATGCTTGCTATG (p.Leu197=) c.575_598delinsTGTATAAAACCCATGCTTGCTATG (p.Leu192=) n.686_709delinsTGTATAAAACCCATGCTTGCTATG | |
| 12 | g.102855231_102855252del | CA229638 | PAH | c.592_613del (p.Tyr198SerfsTer?) c.577_598del (p.Tyr193SerfsTer?) n.688_709del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855230A= | CA2059449464 | PAH | c.612T= (p.Tyr204=) c.597T= (p.Tyr199=) n.708T= | |
| 12 | g.102855230A>C | CA229654 | PAH | c.612T>G (p.Tyr204Ter) c.597T>G (p.Tyr199Ter) n.708T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102855230A>G | CA267665 | PAH | c.612T>C (p.Tyr204=) c.597T>C (p.Tyr199=) n.708T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855230A>T | CA386296712 | PAH | c.612T>A (p.Tyr204Ter) c.597T>A (p.Tyr199Ter) n.708T>A | |
| 12 | g.102855231_102855253del | CA229637 | PAH | c.590_612del (p.Leu197Ter) c.575_597del (p.Leu192Ter) n.686_708del | ClinVar dbSNP |
| 12 | g.102855231T>A | CA386296713 | PAH | c.611A>T (p.Tyr204Phe) c.596A>T (p.Tyr199Phe) n.707A>T | |
| 12 | g.102855231T>C | CA229653 | PAH | c.611A>G (p.Tyr204Cys) c.596A>G (p.Tyr199Cys) n.707A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855231T>G | CA386296714 | PAH | c.611A>C (p.Tyr204Ser) c.596A>C (p.Tyr199Ser) n.707A>C | |
| 12 | g.102855231T= | CA2059449473 | PAH | c.611A= (p.Tyr204=) c.596A= (p.Tyr199=) n.707A= | |
| 12 | g.102855231dup | CA912973333 | PAH | c.611dup (p.Tyr204Ter) c.596dup (p.Tyr199Ter) n.707dup | |
| 12 | g.102855231_102855253delinsTAGCAAGCATGGGTTTTATACAA | CA2059449474 | PAH | c.589_611delinsTTGTATAAAACCCATGCTTGCTA (p.Leu197=) c.574_596delinsTTGTATAAAACCCATGCTTGCTA (p.Leu192=) n.685_707delinsTTGTATAAAACCCATGCTTGCTA | |
| 12 | g.102855232A>C | CA386296715 | PAH | c.610T>G (p.Tyr204Asp) c.595T>G (p.Tyr199Asp) n.706T>G | |
| 12 | g.102855232A>G | CA386296716 | PAH | c.610T>C (p.Tyr204His) c.595T>C (p.Tyr199His) n.706T>C | |
| 12 | g.102855232A>T | CA386296717 | PAH | c.610T>A (p.Tyr204Asn) c.595T>A (p.Tyr199Asn) n.706T>A | |
| 12 | g.102855232dup | CA658821468 | PAH | c.610dup (p.Tyr204LeufsTer2) c.595dup (p.Tyr199LeufsTer2) n.706dup | ClinVar dbSNP |
| 12 | g.102855232_102855252delinsAGCAAGCATGGGTTTTATACA | CA2059449486 | PAH | c.590_610delinsTGTATAAAACCCATGCTTGCT (p.Leu197=) c.575_595delinsTGTATAAAACCCATGCTTGCT (p.Leu192=) n.686_706delinsTGTATAAAACCCATGCTTGCT | |
| 12 | g.102855232_102855252delinsTAGCAAGCATGGGTTTTATAC | CA919161392 | PAH | c.590_610delinsGTATAAAACCCATGCTTGCTA (p.Leu197_Tyr204delinsCysIleLysProMetLeuAlaAsn) c.575_595delinsGTATAAAACCCATGCTTGCTA (p.Leu192_Tyr199delinsCysIleLysProMetLeuAlaAsn) n.686_706delinsGTATAAAACCCATGCTTGCTA | dbSNP |
| 12 | g.102855232_102855253del | CA919161391 | PAH | c.589_610del (p.Leu197MetfsTer?) c.574_595del (p.Leu192MetfsTer?) n.685_706del | dbSNP |
| 12 | g.102855233G>A | CA229649 | PAH | c.609C>T (p.Cys203=) c.594C>T (p.Cys198=) n.705C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855233G>C | CA229647 | PAH | c.609C>G (p.Cys203Trp) c.594C>G (p.Cys198Trp) n.705C>G | ClinVar dbSNP |
| 12 | g.102855233G= | CA2059449495 | PAH | c.609C= (p.Cys203=) c.594C= (p.Cys198=) n.705C= | |
| 12 | g.102855233G>T | CA386296718 | PAH | c.609C>A (p.Cys203Ter) c.594C>A (p.Cys198Ter) n.705C>A | |
| 12 | g.102855233_102855256delinsGCAAGCATGGGTTTTATACAAGGA | CA2059449497 | PAH | c.586_609delinsTCCTTGTATAAAACCCATGCTTGC (p.Ser196=) c.571_594delinsTCCTTGTATAAAACCCATGCTTGC (p.Ser191=) n.682_705delinsTCCTTGTATAAAACCCATGCTTGC | |
| 12 | g.102855234C>A | CA386296719 | PAH | c.608G>T (p.Cys203Phe) c.593G>T (p.Cys198Phe) n.704G>T | dbSNP |
| 12 | g.102855234C= | CA2059449505 | PAH | c.608G= (p.Cys203=) c.593G= (p.Cys198=) n.704G= | |
| 12 | g.102855234C>G | CA386296720 | PAH | c.608G>C (p.Cys203Ser) c.593G>C (p.Cys198Ser) n.704G>C | |
| 12 | g.102855234C>T | CA229645 | PAH | c.608G>A (p.Cys203Tyr) c.593G>A (p.Cys198Tyr) n.704G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855235_102855257del | CA229634 | PAH | c.586_608del (p.Ser196LeufsTer2) c.571_593del (p.Ser191LeufsTer2) n.682_704del | ClinVar dbSNP |
| 12 | g.102855235A= | CA2059449514 | PAH | c.607T= (p.Cys203=) c.592T= (p.Cys198=) n.703T= | |
| 12 | g.102855235A>C | CA386296721 | PAH | c.607T>G (p.Cys203Gly) c.592T>G (p.Cys198Gly) n.703T>G | |
| 12 | g.102855235A>G | CA386296722 | PAH | c.607T>C (p.Cys203Arg) c.592T>C (p.Cys198Arg) n.703T>C | |
| 12 | g.102855235A>T | CA386296723 | PAH | c.607T>A (p.Cys203Ser) c.592T>A (p.Cys198Ser) n.703T>A | ClinVar dbSNP |
| 12 | g.102855236dup | CA16020829 | PAH | c.607dup (p.Cys203LeufsTer3) c.592dup (p.Cys198LeufsTer3) n.703dup | ClinVar dbSNP |
| 12 | g.102855236A>C | CA481578557 | PAH | c.606T>G (p.Ala202=) c.591T>G (p.Ala197=) n.702T>G | |
| 12 | g.102855236A>G | CA481578559 | PAH | c.606T>C (p.Ala202=) c.591T>C (p.Ala197=) n.702T>C | |
| 12 | g.102855236A>T | CA481578558 | PAH | c.606T>A (p.Ala202=) c.591T>A (p.Ala197=) n.702T>A | |
| 12 | g.102855237G>A | CA16020828 | PAH | c.605C>T (p.Ala202Val) c.590C>T (p.Ala197Val) n.701C>T | ClinVar dbSNP |
| 12 | g.102855237G>C | CA386296724 | PAH | c.605C>G (p.Ala202Gly) c.590C>G (p.Ala197Gly) n.701C>G | gnomAD v4 |
| 12 | g.102855237G>T | CA386296725 | PAH | c.605C>A (p.Ala202Asp) c.590C>A (p.Ala197Asp) n.701C>A | |
| 12 | g.102855238C>A | CA386296726 | PAH | c.604G>T (p.Ala202Ser) c.589G>T (p.Ala197Ser) n.700G>T | |
| 12 | g.102855238C>G | CA386296727 | PAH | c.604G>C (p.Ala202Pro) c.589G>C (p.Ala197Pro) n.700G>C | |
| 12 | g.102855238C>T | CA16020827 | PAH | c.604G>A (p.Ala202Thr) c.589G>A (p.Ala197Thr) n.700G>A | ClinVar gnomAD v4 COSMIC |