PMID: 17924342

Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American journal of human genetics
AL Pey, F Stricher, L Serrano, A Martinez
2007-11

274 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
12-103245524-G-A PAH c.853C>T p.His285Tyr Missense 8/13 -
12-103238197-T-C PAH c.982A>G p.Thr328Ala Missense 10/13 -
12-103271326-G-A PAH c.355C>T p.Pro119Ser Missense 4/13 -
12-103238155-C-T PAH c.1024G>A p.Ala342Thr Missense 10/13 -
12-103246646-G-C PAH c.789C>G p.Phe263Leu Missense 7/13 -
12-103306582-A-G PAH c.155T>C p.Leu52Ser Missense 2/13 -
12-103246621-C-A PAH c.814G>T p.Gly272* Nonsense 7/13 -
19-13563700-C-T CACNA1A c.529G>A p.Val177Met Missense 3/48 -
12-103246666-C-T PAH c.769G>A p.Gly257Ser Missense 7/13 -
12-103238155-C-G PAH c.1024G>C p.Ala342Pro Missense 10/13 -
12-103245487-C-T PAH c.890G>A p.Arg297His Missense 8/13 -
12-103245466-T-C PAH c.911A>G p.Gln304Arg Missense 8/13 -
12-103288534-G-A PAH c.331C>T p.Arg111* Nonsense 3/13 -
12-103248955-T-C PAH c.665A>G p.Asp222Gly Missense 6/13 -
12-103288689-T-A PAH c.176A>T p.Asp59Val Missense 3/13 -
12-103238186-A-T PAH c.993T>A p.Phe331Leu Missense 10/13 -
12-103238146-C-A PAH c.1033G>T p.Ala345Ser Missense 10/13 -
12-103288604-G-T PAH c.261C>A p.Ser87Arg Missense 3/13 -
12-103238186-A-C PAH c.993T>G p.Phe331Leu Missense 10/13 -
12-103237464-A-G PAH c.1159T>C p.Tyr387His Missense 11/13 -
12-103249019-G-A PAH c.601C>T p.His201Tyr Missense 6/13 -
12-103306601-C-T PAH c.136G>A p.Gly46Ser Missense 2/13 -
12-103260404-T-G PAH c.479A>C p.Gln160Pro Missense 5/13 -
12-103248982-A-G PAH c.638T>C p.Leu213Pro Missense 6/13 -
12-103246713-C-T PAH c.722G>A p.Arg241His Missense 7/13 -
12-103310850-T-A PAH c.59A>T p.Gln20Leu Missense 1/13 -
12-103288584-GATG-G PAH c.284_286delTCA p.Ile95delIle InFrameDeletion 3/13 -
12-103238140-G-A PAH c.1039C>T p.Leu347Phe Missense 10/13 -
12-103246707-C-T PAH c.728G>A p.Arg243Gln Missense 7/13 -
12-103246707-C-A PAH c.728G>T p.Arg243Leu Missense 7/13 -
12-103288572-A-G PAH c.293T>C p.Leu98Ser Missense 3/13 -
12-103246648-A-G PAH c.787T>C p.Phe263Leu Missense 7/13 -
12-103245530-T-A PAH c.847A>T p.Ile283Phe Missense 8/13 -
12-103248970-C-T PAH c.650G>A p.Cys217Tyr Missense 6/13 -
12-103240713-G-A PAH c.929C>T p.Ser310Phe Missense 9/13 -
12-103246700-CAC-ATC PAH c.733_735delGTGinsATC p.Val245Ile Missense 7/13 -
12-103237493-T-C PAH c.1130A>G p.Tyr377Cys Missense 11/13 -
19-13616835-TCG-AGC CACNA1A c.202_204delCGAinsAGC p.Arg68Ser Missense 1/48 -
12-103306620-G-C PAH c.117C>G p.Phe39Leu Missense 2/13 -
12-103237440-C-G PAH c.1183G>C p.Ala395Pro Missense 11/13 -
12-103249100-T-C PAH c.520A>G p.Ile174Val Missense 6/13 -
12-103246681-G-A PAH c.754C>T p.Arg252Trp Missense 7/13 -
12-103246692-A-G PAH c.743T>C p.Leu248Pro Missense 7/13 -
12-103246711-G-A PAH c.724C>T p.Leu242Phe Missense 7/13 -
12-103246641-C-T PAH c.794G>A p.Cys265Tyr Missense 7/13 -
12-103246671-A-G PAH c.764T>C p.Leu255Ser Missense 7/13 -
12-103245532-T-C PAH c.845A>G p.Asp282Gly Missense 8/13 -
12-103248942-C-A PAH c.678G>T p.Gln226His Missense 6/13 -
12-103260432-C-G PAH c.451G>C p.Asp151His Missense 5/13 -
12-103238133-G-A PAH c.1046C>T p.Ser349Leu Missense 10/13 -
12-103288638-T-C PAH c.227A>G p.Glu76Gly Missense 3/13 -
12-103245533-C-T PAH c.844G>A p.Asp282Asn Missense 8/13 -
12-103246690-G-A PAH c.745C>T p.Leu249Phe Missense 7/13 -
12-103245513-C-G PAH c.864G>C p.Leu288Phe Missense 8/13 -
12-103245513-C-A PAH c.864G>T p.Leu288Phe Missense 8/13 -
12-103234287-A-C PAH c.1206T>G p.Phe402Leu Missense 12/13 -
12-103234287-A-T PAH c.1206T>A p.Phe402Leu Missense 12/13 -
12-103249073-C-G PAH c.547G>C p.Glu183Gln Missense 6/13 -
12-103246606-A-C PAH c.829T>G p.Tyr277Asp Missense 7/13 -
12-103248989-G-T PAH c.631C>A p.Pro211Thr Missense 6/13 -
12-103246695-C-T PAH c.740G>A p.Gly247Asp Missense 7/13 -
12-103246695-C-A PAH c.740G>T p.Gly247Val Missense 7/13 -
12-103246633-A-G PAH c.802T>C p.Tyr268His Missense 7/13 -
12-103260431-T-C PAH c.452A>G p.Asp151Gly Missense 5/13 -
12-103260375-G-C PAH c.508C>G p.His170Asp Missense 5/13 -
12-103234289-A-G PAH c.1204T>C p.Phe402Leu Missense 12/13 -
12-103238143-C-G PAH c.1036G>C p.Gly346Arg Missense 10/13 -
12-103240707-C-A PAH c.935G>T p.Gly312Val Missense 9/13 -
12-103246698-G-A PAH c.737C>T p.Ala246Val Missense 7/13 -
12-103237523-A-G PAH c.1100T>C p.Leu367Pro Missense 11/13 -
12-103306594-A-G PAH c.143T>C p.Leu48Ser Missense 2/13 -
12-103237509-T-A PAH c.1114A>T p.Thr372Ser Missense 11/13 -
12-103245488-G-A PAH c.889C>T p.Arg297Cys Missense 8/13 -
12-103238188-A-G PAH c.991T>C p.Phe331Leu Missense 10/13 -
12-103246653-C-T PAH c.782G>A p.Arg261Gln Missense 7/13 -
12-103238200-A-G PAH c.979T>C p.Phe327Leu Missense 10/13 -
12-103234229-C-T PAH c.1264G>A p.Glu422Lys Missense 12/13 -
12-103240682-C-G PAH c.960G>C p.Lys320Asn Missense 9/13 -
12-103240682-C-A PAH c.960G>T p.Lys320Asn Missense 9/13 -
12-103234255-C-G PAH c.1238G>C p.Arg413Pro Missense 12/13 -
12-103246723-T-G PAH c.712A>C p.Thr238Pro Missense 7/13 -
12-103246665-C-A PAH c.770G>T p.Gly257Val Missense 7/13 -
12-103238125-C-A PAH c.1054G>T p.Gly352Cys Missense 10/13 -
12-103248932-C-T PAH c.688G>A p.Val230Ile Missense 6/13 -
12-103260441-C-T PAH c.442G>A p.Gly148Ser Missense 5/13 -
12-103246698-G-T PAH c.737C>A p.Ala246Asp Missense 7/13 -
12-103240702-G-A PAH c.940C>T p.Pro314Ser Missense 9/13 -
12-103237461-C-T PAH c.1162G>A p.Val388Met Missense 11/13 -
12-103237461-C-G PAH c.1162G>C p.Val388Leu Missense 11/13 -
12-103238143-C-T PAH c.1036G>A p.Gly346Arg Missense 10/13 -
12-103240720-G-A PAH c.922C>T p.Leu308Phe Missense 9/13 -
12-103240720-G-C PAH c.922C>G p.Leu308Val Missense 9/13 -
19-13470424-T-C CACNA1A c.974A>G p.Tyr325Cys Missense 6/48 -
12-103246719-C-T PAH c.716G>A p.Gly239Asp Missense 7/13 -
12-103240702-G-T PAH c.940C>A p.Pro314Thr Missense 9/13 -
12-103237439-G-C PAH c.1184C>G p.Ala395Gly Missense 11/13 -
12-103249061-A-T PAH c.559T>A p.Trp187Arg Missense 6/13 -
12-103237439-G-T PAH c.1184C>A p.Ala395Asp Missense 11/13 -
12-103245521-C-T PAH c.856G>A p.Glu286Lys Missense 8/13 -
19-13476241-G-C CACNA1A c.674C>G p.Pro225Arg Missense 5/48 -
19-13563700-C-G CACNA1A c.529G>C p.Val177Leu Missense 3/48 -
12-103240704-G-A PAH c.938C>T p.Ala313Val Missense 9/13 -
12-103240713-G-T PAH c.929C>A p.Ser310Tyr Missense 9/13 -
12-103249099-A-G PAH c.521T>C p.Ile174Thr Missense 6/13 -
12-103246593-G-A PAH c.842C>T p.Pro281Leu Missense 7/13 -
12-103249097-G-C PAH c.523C>G p.Pro175Ala Missense 6/13 -
19-13616758-A-C CACNA1A c.281T>G p.Ile94Ser Missense 1/48 -
12-103249012-C-T PAH c.608G>A p.Cys203Tyr Missense 6/13 -
12-103288678-T-G PAH c.187A>C p.Thr63Pro Missense 3/13 -
12-103234270-C-T PAH c.1223G>A p.Arg408Gln Missense 12/13 -
12-103288633-C-T PAH c.232G>A p.Glu78Lys Missense 3/13 -
12-103246660-C-T PAH c.775G>A p.Ala259Thr Missense 7/13 -
12-103246680-C-T PAH c.755G>A p.Arg252Gln Missense 7/13 -
12-103248929-A-G PAH c.691T>C p.Ser231Pro Missense 6/13 -
12-103249003-T-C PAH c.617A>G p.Tyr206Cys Missense 6/13 -
12-103260393-T-C PAH c.490A>G p.Ile164Val Missense 5/13 -
12-103246612-G-A PAH c.823C>T p.Pro275Ser Missense 7/13 -
12-103260412-TC-AC PAH c.470_471delGAinsAC p.Arg157Asn Missense 5/13 -
12-103260390-C-G PAH c.493G>C p.Ala165Pro Missense 5/13 -
12-103260390-C-T PAH c.493G>A p.Ala165Thr Missense 5/13 -
12-103306616-G-A PAH c.121C>T p.Leu41Phe Missense 2/13 -
12-103249018-T-C PAH c.602A>G p.His201Arg Missense 6/13 -
19-13476242-G-C CACNA1A c.673C>G p.Pro225Ala Missense 5/48 -
12-103246675-A-T PAH c.760T>A p.Phe254Ile Missense 7/13 -
12-103234244-A-T PAH c.1249T>A p.Tyr417Asn Missense 12/13 -
12-103246696-C-T PAH c.739G>A p.Gly247Ser Missense 7/13 -
12-103238189-C-G PAH c.990G>C p.Glu330Asp Missense 10/13 -
12-103237539-G-T PAH c.1084C>A p.Pro362Thr Missense 11/13 -
12-103237491-T-A PAH c.1132A>T p.Thr378Ser Missense 11/13 -
12-103237443-C-G PAH c.1180G>C p.Asp394His Missense 11/13 -
12-103288653-C-T PAH c.212G>A p.Arg71His Missense 3/13 -
12-103246607-C-A PAH c.828G>T p.Met276Ile Missense 7/13 -
12-103288666-A-G PAH c.199T>C p.Ser67Pro Missense 3/13 -
12-103288600-G-A PAH c.265C>T p.Pro89Ser Missense 3/13 -
12-103237526-G-T PAH c.1097C>A p.Pro366His Missense 11/13 -
12-103260423-A-G PAH c.460T>C p.Tyr154His Missense 5/13 -
12-103260423-A-T PAH c.460T>A p.Tyr154Asn Missense 5/13 -
12-103248955-T-A PAH c.665A>T p.Asp222Val Missense 6/13 -
12-103234241-T-G PAH c.1252A>C p.Thr418Pro Missense 12/13 -
12-103246617-G-A PAH c.818C>T p.Ser273Phe Missense 7/13 -
12-103234273-G-A PAH c.1220C>T p.Pro407Leu Missense 12/13 -
12-103234274-G-A PAH c.1219C>T p.Pro407Ser Missense 12/13 -
19-13441066-G-T CACNA1A c.1340C>A p.Ala447Asp Missense 10/48 -
12-103288690-C-A PAH c.175G>T p.Asp59Tyr Missense 3/13 -
12-103248928-G-A PAH c.692C>T p.Ser231Phe Missense 6/13 -
12-103246665-C-T PAH c.770G>A p.Gly257Asp Missense 7/13 -
12-103246602-G-A PAH c.833C>T p.Thr278Ile Missense 7/13 -
12-103238167-C-A PAH c.1012G>T p.Asp338Tyr Missense 10/13 -
12-103248921-G-C PAH c.699C>G p.Phe233Leu Missense 6/13 -
12-103248921-G-T PAH c.699C>A p.Phe233Leu Missense 6/13 -
19-13446707-C-A CACNA1A c.995G>T p.Gly332Val Missense 7/48 -
19-13446707-C-T CACNA1A c.995G>A p.Gly332Glu Missense 7/48 -
12-103245523-TG-AG PAH c.853_854delCAinsAG p.His285Ser Missense 8/13 -
12-103288682-G-T PAH c.183C>A p.Asn61Lys Missense 3/13 -
12-103288682-G-C PAH c.183C>G p.Asn61Lys Missense 3/13 -
12-103246654-G-A PAH c.781C>T p.Arg261* Nonsense 7/13 -
12-103234222-A-G PAH c.1271T>C p.Leu424Ser Missense 12/13 -
12-103246615-T-C PAH c.820A>G p.Lys274Glu Missense 7/13 -
12-103238157-T-C PAH c.1022A>G p.Lys341Arg Missense 10/13 -
12-103238157-T-G PAH c.1022A>C p.Lys341Thr Missense 10/13 -
12-103288590-G-A PAH c.275C>T p.Thr92Ile Missense 3/13 -
12-103234192-G-T PAH c.1301C>A p.Ala434Asp Missense 12/13 -
19-13476197-A-C CACNA1A c.718T>G p.Phe240Val Missense 5/48 -
12-103246659-G-A PAH c.776C>T p.Ala259Val Missense 7/13 -
12-103240699-C-A PAH c.943G>T p.Asp315Tyr Missense 9/13 -
12-103288560-A-G PAH c.305T>C p.Ile102Thr Missense 3/13 -
12-103238187-A-C PAH c.992T>G p.Phe331Cys Missense 10/13 -
12-103238149-C-G PAH c.1030G>C p.Gly344Arg Missense 10/13 -
12-103238149-C-T PAH c.1030G>A p.Gly344Ser Missense 10/13 -
12-103237506-C-T PAH c.1117G>A p.Ala373Thr Missense 11/13 -
12-103238179-A-T PAH c.1000T>A p.Cys334Ser Missense 10/13 -
19-13563700-C-A CACNA1A c.529G>T p.Val177Leu Missense 3/48 -
12-103237466-T-C PAH c.1157A>G p.Tyr386Cys Missense 11/13 -
12-103238125-C-G PAH c.1054G>C p.Gly352Arg Missense 10/13 -
12-103271295-T-C PAH c.386A>G p.Asp129Gly Missense 4/13 -
12-103238130-G-T PAH c.1049C>A p.Ser350Tyr Missense 10/13 -
12-103271247-T-A PAH c.434A>T p.Asp145Val Missense 4/13 -
12-103237534-C-G PAH c.1089G>C p.Lys363Asn Missense 11/13 -
12-103237534-C-A PAH c.1089G>T p.Lys363Asn Missense 11/13 -
12-103238131-A-T PAH c.1048T>A p.Ser350Thr Missense 10/13 -
12-103260377-C-T PAH c.506G>A p.Arg169His Missense 5/13 -
12-103246696-C-G PAH c.739G>C p.Gly247Arg Missense 7/13 -
12-103248958-T-C PAH c.662A>G p.Glu221Gly Missense 6/13 -
12-103246607-C-T PAH c.828G>A p.Met276Ile Missense 7/13 -
12-103246607-C-G PAH c.828G>C p.Met276Ile Missense 7/13 -
12-103246602-G-T PAH c.833C>A p.Thr278Asn Missense 7/13 -
12-103240701-G-T PAH c.941C>A p.Pro314His Missense 9/13 -
12-103234244-A-G PAH c.1249T>C p.Tyr417His Missense 12/13 -
12-103306576-A-G PAH c.161T>C p.Leu54Ser Missense 2/13 -
12-103246638-GT-GA PAH c.796_797delACinsGA p.Thr266Glu Missense 7/13 -
12-103248942-C-G PAH c.678G>C p.Gln226His Missense 6/13 -
12-103240710-A-G PAH c.932T>C p.Leu311Pro Missense 9/13 -
19-13476242-G-T CACNA1A c.673C>A p.Pro225Thr Missense 5/48 -
12-103271242-G-A PAH c.439C>T p.Pro147Ser Missense 4/13 -
12-103245478-G-A PAH c.899C>T p.Ala300Val Missense 8/13 -
12-103245479-C-A PAH c.898G>T p.Ala300Ser Missense 8/13 -
12-103238189-C-A PAH c.990G>T p.Glu330Asp Missense 10/13 -
12-103245529-A-T PAH c.848T>A p.Ile283Asn Missense 8/13 -
12-103248931-A-C PAH c.689T>G p.Val230Gly Missense 6/13 -
12-103246681-G-C PAH c.754C>G p.Arg252Gly Missense 7/13 -
12-103246603-T-C PAH c.832A>G p.Thr278Ala Missense 7/13 -
12-103238198-A-T PAH c.981T>A p.Phe327Leu Missense 10/13 -
12-103237554-A-C PAH c.1069T>G p.Cys357Gly Missense 11/13 -
12-103238198-A-C PAH c.981T>G p.Phe327Leu Missense 10/13 -
12-103246701-A-T PAH c.734T>A p.Val245Glu Missense 7/13 -
12-103246701-A-G PAH c.734T>C p.Val245Ala Missense 7/13 -
19-13616789-C-A CACNA1A c.250G>T p.Asp84Tyr Missense 1/48 -
12-103271245-G-A PAH c.436C>T p.His146Tyr Missense 4/13 -
12-103246605-T-C PAH c.830A>G p.Tyr277Cys Missense 7/13 -
12-103288638-T-G PAH c.227A>C p.Glu76Ala Missense 3/13 -
12-103246630-T-G PAH c.805A>C p.Ile269Leu Missense 7/13 -
12-103246594-G-A PAH c.841C>T p.Pro281Ser Missense 7/13 -
12-103246594-G-C PAH c.841C>G p.Pro281Ala Missense 7/13 -
12-103246714-G-A PAH c.721C>T p.Arg241Cys Missense 7/13 -
19-13563729-T-A CACNA1A c.500A>T p.Asn167Ile Missense 3/48 -
19-13563729-T-C CACNA1A c.500A>G p.Asn167Ser Missense 3/48 -
12-103260413-C-T PAH c.470G>A p.Arg157Lys Missense 5/13 -
12-103288558-C-T PAH c.307G>A p.Gly103Ser Missense 3/13 -
12-103306579-C-T PAH c.158G>A p.Arg53His Missense 2/13 -
12-103246713-C-A PAH c.722G>T p.Arg241Leu Missense 7/13 -
12-103246596-T-C PAH c.839A>G p.Glu280Gly Missense 7/13 -
19-13616837-G-C CACNA1A c.202C>G p.Arg68Gly Missense 1/48 -
12-103246692-A-C PAH c.743T>G p.Leu248Arg Missense 7/13 -
12-103288624-T-G PAH c.241A>C p.Thr81Pro Missense 3/13 -
12-103288660-G-A PAH c.205C>T p.Pro69Ser Missense 3/13 -
12-103249001-T-C PAH c.619A>G p.Asn207Asp Missense 6/13 -
19-13616845-A-G CACNA1A c.194T>C p.Ile65Thr Missense 1/48 -
19-13616845-A-C CACNA1A c.194T>G p.Ile65Ser Missense 1/48 -
19-13616845-A-T CACNA1A c.194T>A p.Ile65Asn Missense 1/48 -
12-103288684-T-C PAH c.181A>G p.Asn61Asp Missense 3/13 -
12-103240677-G-C PAH c.965C>G p.Ala322Gly Missense 9/13 -
12-103288675-G-T PAH c.190C>A p.His64Asn Missense 3/13 -
12-103246719-C-A PAH c.716G>T p.Gly239Val Missense 7/13 -
12-103246719-C-G PAH c.716G>C p.Gly239Ala Missense 7/13 -
12-103246636-G-C PAH c.799C>G p.Gln267Glu Missense 7/13 -
12-103260430-A-T PAH c.453T>A p.Asp151Glu Missense 5/13 -
12-103260430-A-C PAH c.453T>G p.Asp151Glu Missense 5/13 -
12-103238134-A-C PAH c.1045T>G p.Ser349Ala Missense 10/13 -
12-103238134-A-G PAH c.1045T>C p.Ser349Pro Missense 10/13 -
12-103260374-T-C PAH c.509A>G p.His170Arg Missense 5/13 -
12-103245470-A-G PAH c.907T>C p.Ser303Pro Missense 8/13 -
12-103246609-T-C PAH c.826A>G p.Met276Val Missense 7/13 -
12-103246642-A-C PAH c.793T>G p.Cys265Gly Missense 7/13 -
12-103246704-G-A PAH c.731C>T p.Pro244Leu Missense 7/13 -
12-103245470-A-C PAH c.907T>G p.Ser303Ala Missense 8/13 -
12-103240689-A-G PAH c.953T>C p.Ile318Thr Missense 9/13 -
19-13476196-A-G CACNA1A c.719T>C p.Phe240Ser Missense 5/48 -
12-103260401-A-G PAH c.482T>C p.Phe161Ser Missense 5/13 -
12-103246625-T-A PAH c.810A>T p.Arg270Ser Missense 7/13 -
12-103246625-T-G PAH c.810A>C p.Arg270Ser Missense 7/13 -
12-103234256-G-T PAH c.1237C>A p.Arg413Ser Missense 12/13 -
12-103249103-G-T PAH c.517C>A p.Pro173Thr Missense 6/13 -
12-103246597-C-T PAH c.838G>A p.Glu280Lys Missense 7/13 -
12-103246626-C-T PAH c.809G>A p.Arg270Lys Missense 7/13 -
12-103234276-A-G PAH c.1217T>C p.Ile406Thr Missense 12/13 -
12-103306574-A-G PAH c.163T>C p.Phe55Leu Missense 2/13 -
12-103234250-C-T PAH c.1243G>A p.Asp415Asn Missense 12/13 -
12-103248967-C-A PAH c.653G>T p.Gly218Val Missense 6/13 -
12-103240705-C-T PAH c.937G>A p.Ala313Thr Missense 9/13 -
12-103234264-A-G PAH c.1229T>C p.Phe410Ser Missense 12/13 -
12-103234264-A-C PAH c.1229T>G p.Phe410Cys Missense 12/13 -
12-103249061-A-G PAH c.559T>C p.Trp187Arg Missense 6/13 -
12-103234204-A-G PAH c.1289T>C p.Leu430Pro Missense 12/13 -
12-103240678-C-T PAH c.964G>A p.Ala322Thr Missense 9/13 -
12-103237451-C-A PAH c.1172G>T p.Ser391Ile Missense 11/13 -
12-103249006-T-G PAH c.614A>C p.Glu205Ala Missense 6/13 -
12-103238160-A-G PAH c.1019T>C p.Ile340Thr Missense 10/13 -
12-103246702-C-G PAH c.733G>C p.Val245Leu Missense 7/13 -
12-103246644-T-A PAH c.791A>T p.His264Leu Missense 7/13 -
12-103240716-G-T PAH c.926C>A p.Ala309Asp Missense 9/13 -
12-103240716-G-A PAH c.926C>T p.Ala309Val Missense 9/13 -
12-103306612-T-A PAH c.125A>T p.Lys42Ile Missense 2/13 -
12-103245481-A-C PAH c.896T>G p.Phe299Cys Missense 8/13 -
12-103288554-G-T PAH c.311C>A p.Ala104Asp Missense 3/13 -