NM_000277.3(PAH):c.350C>T (p.Thr117Ile)
|
rs281865439
|
0.00005
|
NM_000277.3(PAH):c.169-42T>A
|
rs281865459
|
0.00001
|
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)
|
rs281865440
|
0.00001
|
NM_000277.3(PAH):c.612T>C (p.Tyr204=)
|
rs62514928
|
0.00001
|
NM_000277.3(PAH):c.970-1G>A
|
rs202183605
|
0.00001
|
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer)
|
rs281865431
|
|
NM_000277.3(PAH):c.1004A>C (p.Lys335Thr)
|
rs281865434
|
|
NM_000277.3(PAH):c.1025C>A (p.Ala342Glu)
|
rs796064501
|
|
NM_000277.3(PAH):c.1066-2A>T
|
rs281865447
|
|
NM_000277.3(PAH):c.1152C>G (p.Pro384=)
|
rs281865458
|
|
NM_000277.3(PAH):c.1163T>C (p.Val388Ala)
|
rs281865435
|
|
NM_000277.3(PAH):c.1171A>G (p.Ser391Gly)
|
rs281865453
|
|
NM_000277.3(PAH):c.1180G>T (p.Asp394Tyr)
|
rs62516142
|
|
NM_000277.3(PAH):c.1196T>C (p.Val399Ala)
|
rs281865436
|
|
NM_000277.3(PAH):c.1199+70G>A
|
rs281865457
|
|
NM_000277.3(PAH):c.1240T>C (p.Tyr414His)
|
rs281865437
|
|
NM_000277.3(PAH):c.155del (p.Leu52fs)
|
rs281865165
|
|
NM_000277.3(PAH):c.164T>C (p.Phe55Ser)
|
rs281865438
|
|
NM_000277.3(PAH):c.169G>T (p.Glu57Ter)
|
rs140945592
|
|
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)
|
rs199475634
|
|
NM_000277.3(PAH):c.196G>T (p.Glu66Ter)
|
rs281865454
|
|
NM_000277.3(PAH):c.242C>A (p.Thr81Asn)
|
rs796064502
|
|
NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr)
|
rs281865432
|
|
NM_000277.3(PAH):c.350del (p.Thr117fs)
|
rs281865428
|
|
NM_000277.3(PAH):c.441+6T>A
|
rs199475698
|
|
NM_000277.3(PAH):c.442-2A>C
|
rs281865448
|
|
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter)
|
rs281865455
|
|
NM_000277.3(PAH):c.547_548delinsTT (p.Glu183Leu)
|
rs281865433
|
|
NM_000277.3(PAH):c.568G>A (p.Val190Met)
|
rs281865441
|
|
NM_000277.3(PAH):c.591G>C (p.Leu197Phe)
|
rs281865442
|
|
NM_000277.3(PAH):c.60+5G>A
|
rs62514895
|
|
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)
|
rs281865443
|
|
NM_000277.3(PAH):c.682G>A (p.Glu228Lys)
|
rs281865444
|
|
NM_000277.3(PAH):c.781C>G (p.Arg261Gly)
|
rs5030850
|
|
NM_000277.3(PAH):c.785T>G (p.Val262Gly)
|
rs281865445
|
|
NM_000277.3(PAH):c.796A>C (p.Thr266Pro)
|
rs62508752
|
|
NM_000277.3(PAH):c.812A>T (p.His271Leu)
|
rs199475692
|
|
NM_000277.3(PAH):c.836C>T (p.Pro279Leu)
|
rs796064503
|
|
NM_000277.3(PAH):c.837del (p.Glu280fs)
|
rs281865429
|
|
NM_000277.3(PAH):c.841C>G (p.Pro281Ala)
|
rs199475654
|
|
NM_000277.3(PAH):c.869A>T (p.His290Leu)
|
rs62642919
|
|
NM_000277.3(PAH):c.887A>G (p.Asp296Gly)
|
rs281865446
|
|
NM_000277.3(PAH):c.895T>C (p.Phe299Leu)
|
rs796064504
|
|
NM_000277.3(PAH):c.912+2T>C
|
rs281865449
|
|
NM_000277.3(PAH):c.912+3A>C
|
rs281865450
|
|
NM_000277.3(PAH):c.913-3C>G
|
rs281865451
|
|
NM_000277.3(PAH):c.913-8A>G
|
rs281865452
|
|
NM_000277.3(PAH):c.916del (p.Ile306fs)
|
rs281865456
|
|
NM_000277.3(PAH):c.931_932del (p.Leu311fs)
|
rs281865430
|
|