NM_000277.3(PAH):c.1237C>T (p.Arg413Cys)
|
rs62644467
|
0.00004
|
NM_000277.3(PAH):c.925G>T (p.Ala309Ser)
|
rs1205657950
|
0.00004
|
NM_000277.3(PAH):c.125A>G (p.Lys42Arg)
|
rs62635346
|
0.00003
|
NM_000277.3(PAH):c.886G>A (p.Asp296Asn)
|
rs765934604
|
0.00003
|
NM_000277.3(PAH):c.1097C>T (p.Pro366Leu)
|
rs62516098
|
0.00001
|
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg)
|
rs1874694173
|
0.00001
|
NM_000277.3(PAH):c.1216A>G (p.Ile406Val)
|
rs749613899
|
0.00001
|
NM_000277.3(PAH):c.1259G>T (p.Arg420Met)
|
rs767075719
|
0.00001
|
NM_000277.3(PAH):c.223G>A (p.Asp75Asn)
|
rs767453024
|
0.00001
|
NM_000277.3(PAH):c.356C>T (p.Pro119Leu)
|
rs374999809
|
0.00001
|
NM_000277.3(PAH):c.435C>A (p.Asp145Glu)
|
rs1375045653
|
0.00001
|
NM_000277.3(PAH):c.632C>A (p.Pro211Gln)
|
rs281865443
|
0.00001
|
NM_000277.3(PAH):c.811C>T (p.His271Tyr)
|
rs62517164
|
0.00001
|
NM_000277.3(PAH):c.828G>A (p.Met276Ile)
|
rs62514954
|
0.00001
|
NM_000277.3(PAH):c.859C>A (p.Leu287Met)
|
rs781096854
|
0.00001
|
NC_000012.11:g.(?_103260354)_(103260461_?)dup
|
|
|
NM_000277.3(PAH):c.1013A>C (p.Asp338Ala)
|
rs1169310686
|
|
NM_000277.3(PAH):c.1030G>A (p.Gly344Ser)
|
rs62508679
|
|
NM_000277.3(PAH):c.1049C>G (p.Ser350Cys)
|
|
|
NM_000277.3(PAH):c.1066-10_1070del
|
rs1592947582
|
|
NM_000277.3(PAH):c.1096C>T (p.Pro366Ser)
|
rs2136635839
|
|
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)
|
rs1592947508
|
|
NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys)
|
rs62642942
|
|
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu)
|
rs1555203681
|
|
NM_000277.3(PAH):c.1155_1156delinsGC (p.Tyr386His)
|
rs2136635586
|
|
NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp)
|
rs199475691
|
|
NM_000277.3(PAH):c.1199+4A>G
|
rs1471682834
|
|
NM_000277.3(PAH):c.1229T>G (p.Phe410Cys)
|
rs62644475
|
|
NM_000277.3(PAH):c.1253C>T (p.Thr418Ile)
|
rs1874539947
|
|
NM_000277.3(PAH):c.1259G>C (p.Arg420Thr)
|
rs767075719
|
|
NM_000277.3(PAH):c.1304A>T (p.Asp435Val)
|
rs1592945394
|
|
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?)
|
rs199475641
|
|
NM_000277.3(PAH):c.157C>A (p.Arg53Ser)
|
rs199475619
|
|
NM_000277.3(PAH):c.182A>G (p.Asn61Ser)
|
rs2136702181
|
|
NM_000277.3(PAH):c.200C>A (p.Ser67Tyr)
|
|
|
NM_000277.3(PAH):c.205C>T (p.Pro69Ser)
|
rs199475678
|
|
NM_000277.3(PAH):c.211C>T (p.Arg71Cys)
|
|
|
NM_000277.3(PAH):c.212G>C (p.Arg71Pro)
|
rs62508695
|
|
NM_000277.3(PAH):c.232G>A (p.Glu78Lys)
|
rs62507326
|
|
NM_000277.3(PAH):c.242C>A (p.Thr81Asn)
|
rs796064502
|
|
NM_000277.3(PAH):c.265C>A (p.Pro89Thr)
|
|
|
NM_000277.3(PAH):c.320A>C (p.His107Pro)
|
rs542645236
|
|
NM_000277.3(PAH):c.441+6T>C
|
rs199475698
|
|
NM_000277.3(PAH):c.443G>A (p.Gly148Asp)
|
rs1555205655
|
|
NM_000277.3(PAH):c.461A>G (p.Tyr154Cys)
|
rs1565853526
|
|
NM_000277.3(PAH):c.467C>G (p.Ala156Gly)
|
rs570748767
|
|
NM_000277.3(PAH):c.467C>T (p.Ala156Val)
|
rs570748767
|
|
NM_000277.3(PAH):c.470G>T (p.Arg157Ile)
|
rs199475611
|
|
NM_000277.3(PAH):c.510-5T>A
|
rs1875378128
|
|
NM_000277.3(PAH):c.515A>G (p.Gln172Arg)
|
|
|
NM_000277.3(PAH):c.516G>C (p.Gln172His)
|
rs192592111
|
|
NM_000277.3(PAH):c.562G>A (p.Gly188Ser)
|
rs2136649680
|
|
NM_000277.3(PAH):c.568G>A (p.Val190Met)
|
rs281865441
|
|
NM_000277.3(PAH):c.602A>G (p.His201Arg)
|
rs62517180
|
|
NM_000277.3(PAH):c.613G>A (p.Glu205Lys)
|
rs63083560
|
|
NM_000277.3(PAH):c.614A>G (p.Glu205Gly)
|
rs62508593
|
|
NM_000277.3(PAH):c.637C>T (p.Leu213Phe)
|
rs1131691945
|
|
NM_000277.3(PAH):c.641A>G (p.Glu214Gly)
|
|
|
NM_000277.3(PAH):c.649T>C (p.Cys217Arg)
|
rs62508718
|
|
NM_000277.3(PAH):c.650G>T (p.Cys217Phe)
|
|
|
NM_000277.3(PAH):c.666T>G (p.Asp222Glu)
|
rs1263259211
|
|
NM_000277.3(PAH):c.670A>C (p.Ile224Leu)
|
|
|
NM_000277.3(PAH):c.670A>G (p.Ile224Val)
|
|
|
NM_000277.3(PAH):c.716G>C (p.Gly239Ala)
|
rs62507283
|
|
NM_000277.3(PAH):c.721C>A (p.Arg241Ser)
|
rs76687508
|
|
NM_000277.3(PAH):c.780C>G (p.Phe260Leu)
|
|
|
NM_000277.3(PAH):c.789C>A (p.Phe263Leu)
|
rs62642944
|
|
NM_000277.3(PAH):c.794G>A (p.Cys265Tyr)
|
rs62507335
|
|
NM_000277.3(PAH):c.805A>G (p.Ile269Val)
|
rs62508692
|
|
NM_000277.3(PAH):c.838G>C (p.Glu280Gln)
|
rs62508698
|
|
NM_000277.3(PAH):c.890G>T (p.Arg297Leu)
|
rs62642939
|
|
NM_000277.3(PAH):c.899C>G (p.Ala300Gly)
|
|
|
NM_000277.3(PAH):c.912+3A>C
|
rs281865450
|
|
NM_000277.3(PAH):c.920G>T (p.Gly307Val)
|
|
|
NM_000277.3(PAH):c.938C>A (p.Ala313Glu)
|
rs62642914
|
|
NM_000277.3(PAH):c.990G>C (p.Glu330Asp)
|
rs62508580
|
|