NM_001142800.2(EYS):c.1809C>T (p.Val603=)
|
rs9345601
|
0.50550
|
NM_001297.5(CNGB1):c.1122-15C>T
|
rs2303778
|
0.46316
|
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg)
|
rs61753610
|
0.12981
|
NM_000360.4(TH):c.1200+9C>T
|
rs11564717
|
0.01045
|
NM_000360.4(TH):c.684G>A (p.Glu228=)
|
rs11564716
|
0.00706
|
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr)
|
rs79544660
|
0.00488
|
NM_002860.4(ALDH18A1):c.2207-3C>T
|
rs149309642
|
0.00472
|
NM_012418.4(FSCN2):c.150C>G (p.Pro50=)
|
rs184519759
|
0.00391
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser)
|
rs187333111
|
0.00365
|
NM_000360.4(TH):c.267G>A (p.Arg89=)
|
rs76240471
|
0.00359
|
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)
|
rs149736764
|
0.00315
|
NM_001985.3(ETFB):c.58-212A>C
|
rs143144671
|
0.00299
|
NM_001875.5(CPS1):c.486T>C (p.Tyr162=)
|
rs138779023
|
0.00295
|
NM_201548.5(CERKL):c.66C>G (p.Pro22=)
|
rs199762900
|
0.00287
|
NM_012418.4(FSCN2):c.49G>A (p.Val17Ile)
|
rs137853900
|
0.00240
|
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu)
|
rs182248363
|
0.00192
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=)
|
rs146588811
|
0.00167
|
NM_033100.4(CDHR1):c.526-7C>G
|
rs190906755
|
0.00166
|
NM_201548.5(CERKL):c.820+9G>A
|
rs189638090
|
0.00163
|
NM_177965.4(CFAP418):c.528A>G (p.Thr176=)
|
rs143748636
|
0.00155
|
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=)
|
rs138464813
|
0.00145
|
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=)
|
rs141787212
|
0.00145
|
NM_000159.4(GCDH):c.1143C>T (p.Ile381=)
|
rs142553521
|
0.00128
|
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)
|
rs772339340
|
0.00124
|
NM_201548.5(CERKL):c.735G>C (p.Leu245=)
|
rs140898616
|
0.00093
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
NM_001297.5(CNGB1):c.2370-9C>T
|
rs374373659
|
0.00055
|
NM_001297.5(CNGB1):c.412+8C>A
|
rs185727761
|
0.00030
|
NM_001297.5(CNGB1):c.838-4G>T
|
rs375539469
|
0.00022
|
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=)
|
rs113591366
|
|
NM_001142800.2(EYS):c.334G>A (p.Val112Ile)
|
rs112609906
|
|
NM_015629.4(PRPF31):c.527+9G>T
|
rs376994481
|
|