NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=)
|
rs9924504
|
0.99996
|
NM_001367624.2(ZNF469):c.10990= (p.Ala3664=)
|
rs904783
|
0.99962
|
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg)
|
rs1983014
|
0.99622
|
NM_001367624.2(ZNF469):c.1529G>C (p.Gly510Ala)
|
rs7199961
|
0.99603
|
NM_015040.4(PIKFYVE):c.3564T>C (p.Asn1188=)
|
rs1529978
|
0.99487
|
NM_015040.4(PIKFYVE):c.2087G>A (p.Ser696Asn)
|
rs10932258
|
0.99262
|
NM_024915.4(GRHL2):c.-24C>G
|
rs515622
|
0.98894
|
NM_001367624.2(ZNF469):c.11856C>T (p.Ser3952=)
|
rs4782362
|
0.98833
|
NM_001367624.2(ZNF469):c.*788G>A
|
rs3894713
|
0.98791
|
NM_000494.4(COL17A1):c.3261T>C (p.Ile1087=)
|
rs2476958
|
0.98672
|
NM_021615.5(CHST6):c.*1967C>T
|
rs42967
|
0.97576
|
NM_015040.4(PIKFYVE):c.*209G>C
|
rs10208295
|
0.93103
|
NM_015040.4(PIKFYVE):c.5397A>G (p.Thr1799=)
|
rs2118297
|
0.93088
|
NM_015040.4(PIKFYVE):c.2993C>G (p.Thr998Ser)
|
rs893253
|
0.92807
|
NM_015040.4(PIKFYVE):c.3547C>A (p.Gln1183Lys)
|
rs1529979
|
0.92765
|
NM_015040.4(PIKFYVE):c.2106C>T (p.Pro702=)
|
rs10932259
|
0.92756
|
NM_015040.4(PIKFYVE):c.2984A>T (p.Gln995Leu)
|
rs893254
|
0.92740
|
NM_015040.4(PIKFYVE):c.5435-47A>G
|
rs994696
|
0.92719
|
NM_015040.4(PIKFYVE):c.5526A>G (p.Glu1842=)
|
rs994697
|
0.92712
|
NM_015040.4(PIKFYVE):c.*128G>T
|
rs10208191
|
0.92697
|
NM_015040.4(PIKFYVE):c.5028-8G>A
|
rs2304544
|
0.92690
|
NM_015040.4(PIKFYVE):c.1321-42C>T
|
rs893256
|
0.92654
|
NM_000494.4(COL17A1):c.1465+48A>G
|
rs805696
|
0.92652
|
NM_001367624.2(ZNF469):c.5661C>G (p.Thr1887=)
|
rs9931465
|
0.89293
|
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=)
|
rs9938800
|
0.89252
|
NM_207352.4(CYP4V2):c.*1781A>C
|
rs6842047
|
0.89083
|
NM_207352.4(CYP4V2):c.*725C>T
|
rs10033577
|
0.89040
|
NM_019040.5(ELP4):c.*3208C>T
|
rs608293
|
0.88020
|
NM_019040.5(ELP4):c.*3514_*3517dup
|
rs397795797
|
0.87931
|
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu)
|
rs4782300
|
0.87223
|
NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=)
|
rs12927001
|
0.86712
|
NM_012293.3(PXDN):c.3921A>G (p.Val1307=)
|
rs6730800
|
0.86660
|
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=)
|
rs12445417
|
0.85761
|
NM_198252.3(GSN):c.1417-22T>C
|
rs306769
|
0.85170
|
NM_000494.4(COL17A1):c.1282G>A (p.Gly428Ser)
|
rs805698
|
0.84905
|
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser)
|
rs11640794
|
0.84448
|
NM_012293.3(PXDN):c.4206+79G>A
|
rs6742040
|
0.84241
|
NM_021615.5(CHST6):c.*5286A>T
|
rs9923834
|
0.82602
|
NM_207352.4(CYP4V2):c.*741C>T
|
rs10033581
|
0.81342
|
NM_198252.3(GSN):c.1763-34G>A
|
rs306771
|
0.80923
|
NM_001367624.2(ZNF469):c.*1001A>G
|
rs3848234
|
0.80892
|
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu)
|
rs7197071
|
0.80067
|
NM_001367624.2(ZNF469):c.11757A>G (p.Pro3919=)
|
rs4782301
|
0.77860
|
NM_000104.4(CYP1B1):c.*695G>T
|
rs10916
|
0.76280
|
NM_012293.3(PXDN):c.1567+67C>T
|
rs12475392
|
0.75111
|
NM_000494.4(COL17A1):c.2107A>G (p.Met703Val)
|
rs805722
|
0.72600
|
NM_000494.4(COL17A1):c.3278-9C>G
|
rs2274098
|
0.72589
|
NM_001174089.2(SLC4A11):c.1415+97T>G
|
rs3810561
|
0.72417
|
NM_000494.4(COL17A1):c.2904A>G (p.Pro968=)
|
rs2274100
|
0.72299
|
NM_019040.5(ELP4):c.*5226T>A
|
rs1506
|
0.72043
|
NM_000494.4(COL17A1):c.2595C>T (p.Arg865=)
|
rs4918079
|
0.71960
|
NM_000494.4(COL17A1):c.3208+16C>T
|
rs2282437
|
0.71950
|
NM_000494.4(COL17A1):c.2883C>A (p.Pro961=)
|
rs2296219
|
0.71801
|
NM_012293.3(PXDN):c.1836T>C (p.Asn612=)
|
rs17841813
|
0.71557
|
NM_019040.5(ELP4):c.*2452C>T
|
rs3026401
|
0.70691
|
NM_015040.4(PIKFYVE):c.5334G>A (p.Thr1778=)
|
rs2304545
|
0.70349
|
NM_000104.4(CYP1B1):c.*350C>A
|
rs162562
|
0.67224
|
NM_021615.5(CHST6):c.*5445G>A
|
rs10871313
|
0.66442
|
NM_001174089.2(SLC4A11):c.44-400C>G
|
rs3810562
|
0.65483
|
NM_001400277.1(SLC4A11):c.-15+100T>C
|
rs6107260
|
0.65355
|
NM_021220.4(OVOL2):c.512-4T>G
|
rs2281543
|
0.64769
|
NM_007035.4(KERA):c.69G>A (p.Val23=)
|
rs2735333
|
0.64254
|
NM_005202.4(COL8A2):c.193+34C>T
|
rs274754
|
0.62904
|
NM_001174089.2(SLC4A11):c.1489+141T>C
|
rs6139039
|
0.62765
|
NM_207352.4(CYP4V2):c.810T>G (p.Ala270=)
|
rs3736455
|
0.62273
|
NM_207352.4(CYP4V2):c.775C>A (p.Gln259Lys)
|
rs13146272
|
0.60911
|
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=)
|
rs12918876
|
0.60216
|
NM_000494.4(COL17A1):c.629C>T (p.Thr210Met)
|
rs805708
|
0.59454
|
NM_021615.5(CHST6):c.*242_*243insG
|
rs11436257
|
0.58387
|
NM_000494.4(COL17A1):c.1062C>T (p.Ala354=)
|
rs805701
|
0.56681
|
NM_021615.5(CHST6):c.*3819G>C
|
rs8063068
|
0.54358
|
NM_001083962.2(TCF4):c.789+23C>T
|
rs1788027
|
0.53241
|
NM_021615.5(CHST6):c.*1919C>T
|
rs7194035
|
0.52511
|
NM_021615.5(CHST6):c.*2024C>G
|
rs7193828
|
0.52124
|
NM_021615.5(CHST6):c.*4305T>C
|
rs11641249
|
0.51737
|
NM_001174089.2(SLC4A11):c.729+140C>A
|
rs2144771
|
0.50909
|
NM_021615.5(CHST6):c.*1566T>G
|
rs4888432
|
0.50768
|
NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=)
|
rs1056837
|
0.49486
|
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=)
|
rs3827075
|
0.49054
|
NM_000104.4(CYP1B1):c.*975A>G
|
rs2855658
|
0.48745
|
NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val)
|
rs11651270
|
0.47552
|
NM_021615.5(CHST6):c.*3742C>T
|
rs56116092
|
0.47041
|
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)
|
rs1055138
|
0.46276
|
NM_207352.4(CYP4V2):c.*1236A>T
|
rs1053094
|
0.45426
|
NM_001174089.2(SLC4A11):c.44-121G>C
|
rs3827076
|
0.44987
|
NM_002353.3(TACSTD2):c.*280T>C
|
rs3551
|
0.44624
|
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln)
|
rs1105066
|
0.44478
|
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=)
|
rs3812953
|
0.43642
|
NM_001174089.2(SLC4A11):c.1043-15A>C
|
rs3803953
|
0.43502
|
NM_000494.4(COL17A1):c.2398+19G>A
|
rs813944
|
0.43385
|
NM_019040.5(ELP4):c.*4250C>T
|
rs12421026
|
0.42881
|
NM_207352.4(CYP4V2):c.-146C>T
|
rs1398007
|
0.41622
|
NM_001174089.2(SLC4A11):c.2193-18C>T
|
rs2281575
|
0.39893
|
NM_207352.4(CYP4V2):c.-152A>G
|
rs2241819
|
0.39682
|
NM_000358.3(TGFBI):c.1620T>C (p.Phe540=)
|
rs4669
|
0.38557
|
NM_021615.5(CHST6):c.*4366T>C
|
rs37606
|
0.38416
|
NM_018699.4(PRDM5):c.744-38C>T
|
rs2136998
|
0.38181
|
NM_001174089.2(SLC4A11):c.88+189G>A
|
rs4142381
|
0.37902
|
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=)
|
rs8766
|
0.37317
|
NM_024915.4(GRHL2):c.*41G>A
|
rs3735713
|
0.37317
|
NM_024915.4(GRHL2):c.1764-19C>T
|
rs10093032
|
0.37291
|
NM_207352.4(CYP4V2):c.802-7C>T
|
rs3817184
|
0.36293
|
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg)
|
rs12598474
|
0.36151
|
NM_000358.3(TGFBI):c.651G>C (p.Leu217=)
|
rs1442
|
0.36069
|
NM_012293.3(PXDN):c.200+35C>T
|
rs62116430
|
0.35690
|
NM_000358.3(TGFBI):c.981A>G (p.Val327=)
|
rs1054124
|
0.35276
|
NM_000358.3(TGFBI):c.*537T>G
|
rs4572
|
0.33766
|
NM_033004.4(NLRP1):c.464T>A (p.Leu155His)
|
rs12150220
|
0.33261
|
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln)
|
rs3812956
|
0.32763
|
NM_014588.6(VSX1):c.546A>G (p.Ala182=)
|
rs12480307
|
0.29623
|
NM_000223.4(KRT12):c.43C>T (p.Pro15Ser)
|
rs11650915
|
0.28816
|
NM_018699.4(PRDM5):c.681A>G (p.Leu227=)
|
rs343192
|
0.28756
|
NM_000494.4(COL17A1):c.4109A>G (p.Asp1370Gly)
|
rs17116350
|
0.28157
|
NM_000104.4(CYP1B1):c.-1-12C>T
|
rs2617266
|
0.28114
|
NM_000358.3(TGFBI):c.1416C>T (p.Leu472=)
|
rs1133170
|
0.27861
|
NM_001174089.2(SLC4A11):c.89-8G>T
|
rs3803957
|
0.27831
|
NM_002353.3(TACSTD2):c.*637G>A
|
rs7333
|
0.26328
|
NM_012293.3(PXDN):c.2892C>T (p.Asn964=)
|
rs3811613
|
0.25189
|
NM_001367624.2(ZNF469):c.*8G>A
|
rs45504291
|
0.24166
|
NM_019040.5(ELP4):c.*3703G>A
|
rs3026398
|
0.22983
|
NM_001174089.2(SLC4A11):c.730-31T>C
|
rs540847946
|
0.22407
|
NM_001174089.2(SLC4A11):c.730-29_730-28insC
|
rs147477986
|
0.22402
|
NM_001174089.2(SLC4A11):c.292-86G>C
|
rs6139040
|
0.20545
|
NM_018699.4(PRDM5):c.1234T>C (p.Leu412=)
|
rs12499000
|
0.19996
|
NM_001174089.2(SLC4A11):c.88+201A>C
|
rs6037508
|
0.19777
|
NM_021615.5(CHST6):c.*2327C>T
|
rs185053
|
0.19705
|
NM_001174089.2(SLC4A11):c.730-29T>A
|
rs573322136
|
0.19676
|
NM_000104.4(CYP1B1):c.*2409A>T
|
rs162549
|
0.18874
|
NM_153427.2(PITX2):c.-1068C>T
|
rs62338989
|
0.17862
|
NM_001174089.2(SLC4A11):c.729+34G>A
|
rs3803955
|
0.17603
|
NM_001174089.2(SLC4A11):c.591G>A (p.Ser197=)
|
rs3803956
|
0.17522
|
NM_001174089.2(SLC4A11):c.2389-9C>T
|
rs41281858
|
0.17452
|
NM_013319.3(UBIAD1):c.*904T>C
|
rs3765906
|
0.16890
|
NM_001083962.2(TCF4):c.305-165C>T
|
rs17522826
|
0.15868
|
NM_014588.6(VSX1):c.627+23G>A
|
rs6138482
|
0.15837
|
NM_207352.4(CYP4V2):c.*2399C>T
|
rs56413992
|
0.15680
|
NM_033004.4(NLRP1):c.114G>C (p.Ser38=)
|
rs884367
|
0.15491
|
NM_021615.5(CHST6):c.*4086G>A
|
rs12918234
|
0.15036
|
NM_019040.5(ELP4):c.*3998C>T
|
rs662702
|
0.14929
|
NM_002353.3(TACSTD2):c.*202A>G
|
rs41313363
|
0.14784
|
NM_002353.3(TACSTD2):c.-54A>C
|
rs232835
|
0.14512
|
NM_002353.3(TACSTD2):c.648C>A (p.Asp216Glu)
|
rs14008
|
0.14507
|
NM_015040.4(PIKFYVE):c.3097T>G (p.Ser1033Ala)
|
rs999890
|
0.13441
|
NM_015040.4(PIKFYVE):c.3114A>G (p.Arg1038=)
|
rs999891
|
0.13429
|
NM_001367624.2(ZNF469):c.*845T>C
|
rs7187709
|
0.13371
|
NM_002353.3(TACSTD2):c.*421A>G
|
rs9583
|
0.12260
|
NM_002353.3(TACSTD2):c.518A>C (p.Asp173Ala)
|
rs35075952
|
0.12227
|
NM_001367624.2(ZNF469):c.6462G>A (p.Pro2154=)
|
rs61472141
|
0.10977
|
NM_015040.4(PIKFYVE):c.*1262T>G
|
rs6725527
|
0.10055
|
NM_015040.4(PIKFYVE):c.*2173C>T
|
rs11538998
|
0.09994
|
NM_013319.3(UBIAD1):c.*1304C>T
|
rs17036631
|
0.09921
|
NM_001174089.2(SLC4A11):c.1283-11C>T
|
rs41281862
|
0.09711
|
NM_012293.3(PXDN):c.4074-40A>G
|
rs66753271
|
0.09593
|
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg)
|
rs28723506
|
0.09509
|
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys)
|
rs13334190
|
0.09442
|
NM_001174089.2(SLC4A11):c.1611C>T (p.Asn537=)
|
rs41281860
|
0.09317
|
NM_012293.3(PXDN):c.3953-14T>C
|
rs7578605
|
0.09206
|
NM_001174089.2(SLC4A11):c.1341G>A (p.Thr447=)
|
rs6084312
|
0.08722
|
NM_001367624.2(ZNF469):c.*46C>A
|
rs78600508
|
0.08121
|
NM_012293.3(PXDN):c.1568-19C>G
|
rs7588627
|
0.07897
|
NM_207352.4(CYP4V2):c.846T>C (p.Cys282=)
|
rs3736456
|
0.07854
|
NM_002353.3(TACSTD2):c.*48G>A
|
rs41311174
|
0.07841
|
NM_014588.6(VSX1):c.*453del
|
rs11478193
|
0.07828
|
NM_207352.4(CYP4V2):c.1083C>T (p.Asp361=)
|
rs10029149
|
0.07706
|
NM_207352.4(CYP4V2):c.*1638G>A
|
rs72646300
|
0.07687
|
NM_207352.4(CYP4V2):c.*1148A>G
|
rs10011736
|
0.07494
|
NM_013319.3(UBIAD1):c.*1532C>T
|
rs77270119
|
0.07082
|
NM_198252.3(GSN):c.2115T>C (p.Phe705=)
|
rs9102
|
0.07073
|
NM_001174089.2(SLC4A11):c.*34C>T
|
rs6051657
|
0.06969
|
NM_000104.4(CYP1B1):c.729G>C (p.Val243=)
|
rs9341249
|
0.06879
|
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu)
|
rs141218390
|
0.06780
|
NM_001367624.2(ZNF469):c.*907G>A
|
rs1048192
|
0.06751
|
NM_001367624.2(ZNF469):c.*921_*922insG
|
rs11382974
|
0.06632
|
NM_014588.6(VSX1):c.18G>T (p.Ser6=)
|
rs8123716
|
0.06535
|
NM_001174089.2(SLC4A11):c.2193-4G>A
|
rs10048856
|
0.06274
|
NM_001367624.2(ZNF469):c.8330A>T (p.Asp2777Val)
|
rs3812954
|
0.06060
|
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=)
|
rs111557381
|
0.06017
|
NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
NM_013319.3(UBIAD1):c.-47T>G
|
rs72856992
|
0.05898
|
NM_198252.3(GSN):c.1694C>T (p.Thr565Met)
|
rs76463933
|
0.05893
|
NM_001174089.2(SLC4A11):c.2451G>A (p.Thr817=)
|
rs58757394
|
0.05831
|
NM_198252.3(GSN):c.1260C>T (p.Gly420=)
|
rs2304393
|
0.05790
|
NM_012293.3(PXDN):c.1946+6G>A
|
rs73178792
|
0.05765
|
NM_019040.5(ELP4):c.*2114C>G
|
rs16922475
|
0.05615
|
NM_000325.6(PITX2):c.*454C>T
|
rs6533526
|
0.05143
|
NM_207352.4(CYP4V2):c.327+11G>C
|
rs62350517
|
0.05079
|
NM_015040.4(PIKFYVE):c.*2281del
|
rs56993638
|
0.05007
|
NM_015040.4(PIKFYVE):c.*2185C>G
|
rs59149007
|
0.05003
|
NM_002353.3(TACSTD2):c.441G>C (p.Glu147Asp)
|
rs1062964
|
0.04957
|
NM_019040.5(ELP4):c.*3509A>G
|
rs542906080
|
0.04927
|
NM_207352.4(CYP4V2):c.555A>T (p.Ala185=)
|
rs11932764
|
0.04735
|
NM_012293.3(PXDN):c.2661C>T (p.Ser887=)
|
rs1863134
|
0.04731
|
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr)
|
rs113937803
|
0.04541
|
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=)
|
rs74032864
|
0.04134
|
NM_207352.4(CYP4V2):c.823G>A (p.Glu275Lys)
|
rs34745240
|
0.03921
|
NM_012293.3(PXDN):c.3093C>T (p.Tyr1031=)
|
rs6752525
|
0.03782
|
NM_002353.3(TACSTD2):c.828C>T (p.Gly276=)
|
rs12121124
|
0.03674
|
NM_000104.4(CYP1B1):c.*1871C>T
|
rs9341266
|
0.03671
|
NM_001367624.2(ZNF469):c.*634C>A
|
rs74032868
|
0.03588
|
NM_018699.4(PRDM5):c.849G>A (p.Gln283=)
|
rs17051264
|
0.03566
|
NM_021615.5(CHST6):c.*955C>T
|
rs116535181
|
0.03535
|
NM_015040.4(PIKFYVE):c.5511T>C (p.Ile1837=)
|
rs13020468
|
0.03491
|
NM_014588.6(VSX1):c.391C>A (p.Arg131Ser)
|
rs6050307
|
0.03467
|
NM_014588.6(VSX1):c.*496A>G
|
rs76499395
|
0.03452
|
NM_015040.4(PIKFYVE):c.1849A>G (p.Met617Val)
|
rs16840913
|
0.03433
|
NM_000358.3(TGFBI):c.*267C>A
|
rs17169782
|
0.03306
|
NM_198252.3(GSN):c.232G>A (p.Ala78Thr)
|
rs2230287
|
0.03231
|
NM_015040.4(PIKFYVE):c.-160A>G
|
rs34366347
|
0.03165
|
NM_015040.4(PIKFYVE):c.2191-15A>T
|
rs16840942
|
0.03144
|
NM_015040.4(PIKFYVE):c.279A>G (p.Lys93=)
|
rs36031854
|
0.03133
|
NM_015040.4(PIKFYVE):c.4731A>G (p.Gln1577=)
|
rs35066043
|
0.03133
|
NM_198252.3(GSN):c.1535C>G (p.Thr512Ser)
|
rs77681311
|
0.02987
|
NM_207352.4(CYP4V2):c.*1057T>C
|
rs62348766
|
0.02979
|
NM_021615.5(CHST6):c.*2288T>G
|
rs147960476
|
0.02929
|
NM_021615.5(CHST6):c.*3992T>C
|
rs8063344
|
0.02920
|
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr)
|
rs3812955
|
0.02902
|
NM_019040.5(ELP4):c.*2673_*2674del
|
rs141022497
|
0.02792
|
NM_001174089.2(SLC4A11):c.357G>A (p.Ala119=)
|
rs34460295
|
0.02737
|
NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn)
|
rs34331648
|
0.02714
|
NM_001368894.2(PAX6):c.-129+9G>A
|
rs56139994
|
0.02711
|
NM_198252.3(GSN):c.29A>G (p.Lys10Arg)
|
rs115224458
|
0.02654
|
NM_019040.5(ELP4):c.*4105C>T
|
rs73477656
|
0.02650
|
NM_002353.3(TACSTD2):c.889A>G (p.Ile297Val)
|
rs114373153
|
0.02577
|
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=)
|
rs74032865
|
0.02534
|
NM_000104.4(CYP1B1):c.-1-14C>T
|
rs4987134
|
0.02460
|
NM_013319.3(UBIAD1):c.*148A>G
|
rs11580061
|
0.02447
|
NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=)
|
rs148616993
|
0.02438
|
NM_018699.4(PRDM5):c.660G>A (p.Gln220=)
|
rs74320998
|
0.02419
|
NM_000104.4(CYP1B1):c.564C>A (p.Gly188=)
|
rs9341247
|
0.02411
|
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=)
|
rs150233193
|
0.02319
|
NM_000104.4(CYP1B1):c.*2371T>C
|
rs9309020
|
0.02296
|
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg)
|
rs3812951
|
0.02265
|
NM_002353.3(TACSTD2):c.*226C>A
|
rs80012655
|
0.02262
|
NM_000358.3(TGFBI):c.1803G>A (p.Leu601=)
|
rs35151677
|
0.02232
|
NM_014588.6(VSX1):c.315C>A (p.Asp105Glu)
|
rs6115023
|
0.02185
|
NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys)
|
rs116072997
|
0.02164
|
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=)
|
rs60462217
|
0.02154
|
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu)
|
rs115183769
|
0.02140
|
NM_000358.3(TGFBI):c.1411-3C>T
|
rs11242308
|
0.02094
|
NM_001920.5(DCN):c.*51A>G
|
rs1803343
|
0.02082
|
NM_015040.4(PIKFYVE):c.1983C>A (p.Ile661=)
|
rs41305979
|
0.02061
|
NM_021615.5(CHST6):c.*3828A>T
|
rs56769615
|
0.02061
|
NM_001367624.2(ZNF469):c.6777G>A (p.Glu2259=)
|
rs76442115
|
0.02017
|
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg)
|
rs75136873
|
0.02017
|
NM_018699.4(PRDM5):c.1066T>A (p.Ser356Thr)
|
rs140634372
|
0.01952
|
NM_013319.3(UBIAD1):c.*1060G>A
|
rs115210853
|
0.01873
|
NM_001920.5(DCN):c.282C>T (p.Thr94=)
|
rs3138221
|
0.01829
|
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg)
|
rs77490207
|
0.01795
|
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=)
|
rs111986360
|
0.01774
|
NM_001920.5(DCN):c.803C>T (p.Thr268Met)
|
rs3138268
|
0.01757
|
NM_021615.5(CHST6):c.*1426C>A
|
rs11861434
|
0.01725
|
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr)
|
rs80194531
|
0.01629
|
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=)
|
rs115790991
|
0.01614
|
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly)
|
rs4986888
|
0.01612
|
NM_015040.4(PIKFYVE):c.*2247A>G
|
rs13391849
|
0.01573
|
NM_014588.6(VSX1):c.*745G>A
|
rs6050301
|
0.01546
|
NM_021615.5(CHST6):c.*2956G>A
|
rs11860278
|
0.01509
|
NM_207352.4(CYP4V2):c.*1474G>T
|
rs77175303
|
0.01464
|
NM_013319.3(UBIAD1):c.*819G>A
|
rs75287995
|
0.01442
|
NM_000104.4(CYP1B1):c.*926A>C
|
rs9341261
|
0.01416
|
NM_012293.3(PXDN):c.1182T>C (p.Ser394=)
|
rs76057922
|
0.01411
|
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr)
|
rs57052487
|
0.01385
|
NM_012293.3(PXDN):c.3593G>A (p.Arg1198Gln)
|
rs6723697
|
0.01353
|
NM_021615.5(CHST6):c.258A>C (p.Ala86=)
|
rs61740901
|
0.01353
|
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln)
|
rs181077813
|
0.01341
|
NM_000325.6(PITX2):c.*471G>A
|
rs75911264
|
0.01337
|
NM_021615.5(CHST6):c.*5441C>T
|
rs74742116
|
0.01333
|
NM_012293.3(PXDN):c.111G>C (p.Pro37=)
|
rs140134102
|
0.01330
|
NM_014588.6(VSX1):c.339C>T (p.Gly113=)
|
rs6037016
|
0.01324
|
NM_012293.3(PXDN):c.4293A>G (p.Lys1431=)
|
rs61976956
|
0.01306
|
NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=)
|
rs58401704
|
0.01305
|
NM_153427.2(PITX2):c.-392G>T
|
rs113778706
|
0.01298
|
NM_198252.3(GSN):c.538A>G (p.Asn180Asp)
|
rs11550199
|
0.01287
|
NM_015040.4(PIKFYVE):c.4989C>T (p.Cys1663=)
|
rs35784095
|
0.01266
|
NM_001367624.2(ZNF469):c.8121G>A (p.Ala2707=)
|
rs116696830
|
0.01217
|
NM_207352.4(CYP4V2):c.1091-4T>A
|
rs61748269
|
0.01211
|
NM_207352.4(CYP4V2):c.1536C>T (p.Gly512=)
|
rs72646298
|
0.01209
|
NM_021615.5(CHST6):c.-78T>C
|
rs114012239
|
0.01207
|
NM_018699.4(PRDM5):c.*120T>C
|
rs77157999
|
0.01181
|
NM_000325.6(PITX2):c.618T>G (p.Ser206=)
|
rs35946364
|
0.01175
|
NM_021615.5(CHST6):c.*377G>A
|
rs138647317
|
0.01173
|
NM_001368894.2(PAX6):c.*842G>A
|
rs115045926
|
0.01172
|
NM_001368894.2(PAX6):c.369G>A (p.Glu123=)
|
rs114384476
|
0.01168
|
NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=)
|
rs74384633
|
0.01153
|
NM_001367624.2(ZNF469):c.6032G>A (p.Gly2011Asp)
|
rs79155191
|
0.01148
|
NM_001174089.2(SLC4A11):c.*225C>T
|
rs77978636
|
0.01139
|
NM_001367624.2(ZNF469):c.7764G>A (p.Pro2588=)
|
rs117149938
|
0.01130
|
NM_000104.4(CYP1B1):c.*2158T>C
|
rs112948057
|
0.01121
|
NM_207352.4(CYP4V2):c.-128A>G
|
rs531909464
|
0.01113
|
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser)
|
rs113484918
|
0.01110
|
NM_015040.4(PIKFYVE):c.*1973_*1974insA
|
rs199859183
|
0.01071
|
NM_015040.4(PIKFYVE):c.*1978T>C
|
rs535013196
|
0.01071
|
NM_014588.6(VSX1):c.*200G>T
|
rs75590263
|
0.01070
|
NM_207352.4(CYP4V2):c.*2106G>T
|
rs72646302
|
0.01061
|
NM_012293.3(PXDN):c.4321-16C>T
|
rs113997519
|
0.01052
|
NM_000358.3(TGFBI):c.*458G>A
|
rs7854
|
0.01047
|
NM_021615.5(CHST6):c.*2955C>T
|
rs76087215
|
0.01047
|
NM_153427.3(PITX2):c.46+8C>G
|
rs199896960
|
0.01041
|
NM_021615.5(CHST6):c.120C>T (p.Arg40=)
|
rs61740904
|
0.01016
|
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=)
|
rs117310292
|
0.00992
|
NM_000104.4(CYP1B1):c.*2261A>C
|
rs77534033
|
0.00985
|
NM_013319.3(UBIAD1):c.-195G>A
|
rs114907127
|
0.00966
|
NM_207352.4(CYP4V2):c.*1053C>T
|
rs62348765
|
0.00964
|
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu)
|
rs141776185
|
0.00951
|
NM_001368894.2(PAX6):c.*356T>A
|
rs774392481
|
0.00945
|
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val)
|
rs181785233
|
0.00939
|
NM_019040.5(ELP4):c.*3851C>T
|
rs141344418
|
0.00935
|
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=)
|
rs140480823
|
0.00931
|
NM_000104.4(CYP1B1):c.*1027del
|
rs144188082
|
0.00927
|
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=)
|
rs141666432
|
0.00893
|
NM_001174089.2(SLC4A11):c.2391T>G (p.Thr797=)
|
rs7262506
|
0.00889
|
NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile)
|
rs34224785
|
0.00886
|
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=)
|
rs147859144
|
0.00882
|
NM_001367624.2(ZNF469):c.*665G>A
|
rs75706884
|
0.00863
|
NM_002353.3(TACSTD2):c.-1C>A
|
rs232836
|
0.00863
|
NM_198252.3(GSN):c.1239A>G (p.Thr413=)
|
rs149375418
|
0.00861
|
NM_019040.5(ELP4):c.*3994C>A
|
rs79739975
|
0.00857
|
NM_021615.5(CHST6):c.768C>T (p.Ala256=)
|
rs146465655
|
0.00857
|
NM_001367624.2(ZNF469):c.1584G>A (p.Pro528=)
|
rs143852982
|
0.00854
|
NM_198252.3(GSN):c.513+19T>C
|
rs79969850
|
0.00853
|
NM_001367624.2(ZNF469):c.952G>A (p.Val318Met)
|
rs139066376
|
0.00852
|
NM_012293.3(PXDN):c.3621G>T (p.Ser1207=)
|
rs61731247
|
0.00844
|
NM_002353.3(TACSTD2):c.*166C>T
|
rs7355042
|
0.00815
|
NM_019040.5(ELP4):c.*3425C>T
|
rs3026399
|
0.00813
|
NM_013319.3(UBIAD1):c.224C>T (p.Ser75Phe)
|
rs114000606
|
0.00811
|
NM_001367624.2(ZNF469):c.10034G>A (p.Arg3345His)
|
rs79339739
|
0.00810
|
NM_001368894.2(PAX6):c.*417C>T
|
rs55756603
|
0.00810
|
NM_012293.3(PXDN):c.4088G>A (p.Gly1363Glu)
|
rs61747868
|
0.00788
|
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln)
|
rs75288466
|
0.00769
|
NM_001368894.2(PAX6):c.-180A>G
|
rs75563367
|
0.00766
|
NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=)
|
rs74547407
|
0.00765
|
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val)
|
rs116532825
|
0.00765
|
NM_015040.4(PIKFYVE):c.*1098A>G
|
rs147936107
|
0.00759
|
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu)
|
rs115487796
|
0.00752
|
NM_001367624.2(ZNF469):c.8625G>A (p.Pro2875=)
|
rs138771545
|
0.00751
|
NM_021615.5(CHST6):c.*3883T>G
|
rs138114811
|
0.00736
|
NM_001367624.2(ZNF469):c.8868C>T (p.Pro2956=)
|
rs137930753
|
0.00731
|
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro)
|
rs150488251
|
0.00706
|
NM_019040.5(ELP4):c.*4172A>C
|
rs73477658
|
0.00701
|
NM_001367624.2(ZNF469):c.8067G>A (p.Gly2689=)
|
rs116213189
|
0.00697
|
NM_012293.3(PXDN):c.4124C>T (p.Thr1375Ile)
|
rs61747875
|
0.00688
|
NM_012293.3(PXDN):c.3198C>T (p.Ala1066=)
|
rs115076385
|
0.00686
|
NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro)
|
rs118020901
|
0.00680
|
NM_021615.5(CHST6):c.*5187T>G
|
rs28710075
|
0.00653
|
NM_000358.3(TGFBI):c.1027A>G (p.Met343Val)
|
rs35920018
|
0.00652
|
NM_012293.3(PXDN):c.1805C>T (p.Ser602Leu)
|
rs73910815
|
0.00635
|
NM_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr)
|
rs117555121
|
0.00632
|
NM_021615.5(CHST6):c.*3621A>G
|
rs139900788
|
0.00630
|
NM_000358.3(TGFBI):c.816C>T (p.Asn272=)
|
rs34334509
|
0.00623
|
NM_021615.5(CHST6):c.*606G>A
|
rs117741124
|
0.00621
|
NM_021615.5(CHST6):c.465G>A (p.Arg155=)
|
rs141905571
|
0.00619
|
NM_021615.5(CHST6):c.294C>G (p.Ser98=)
|
rs118144424
|
0.00618
|
NM_012293.3(PXDN):c.1242G>A (p.Ala414=)
|
rs111448491
|
0.00609
|
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val)
|
rs199897247
|
0.00605
|
NM_001920.5(DCN):c.424A>G (p.Lys142Glu)
|
rs142752401
|
0.00605
|
NM_021615.5(CHST6):c.*2833T>G
|
rs149981556
|
0.00595
|
NM_001367624.2(ZNF469):c.*264A>G
|
rs193210256
|
0.00591
|
NM_001367624.2(ZNF469):c.627G>T (p.Gly209=)
|
rs113227277
|
0.00590
|
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu)
|
rs184583062
|
0.00587
|
NM_001174089.2(SLC4A11):c.2061C>T (p.Leu687=)
|
rs140461431
|
0.00580
|
NM_000358.3(TGFBI):c.1486C>G (p.Arg496Gly)
|
rs10057190
|
0.00561
|
NM_015040.4(PIKFYVE):c.-166A>T
|
rs530975785
|
0.00555
|
NM_001920.5(DCN):c.703A>C (p.Arg235=)
|
rs3138264
|
0.00551
|
NM_015040.4(PIKFYVE):c.-134C>T
|
rs115543378
|
0.00541
|
NM_012293.3(PXDN):c.3064G>A (p.Val1022Met)
|
rs79322931
|
0.00537
|
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu)
|
rs77951481
|
0.00528
|
NM_015040.4(PIKFYVE):c.*1499T>G
|
rs41295956
|
0.00527
|
NM_198252.3(GSN):c.382G>A (p.Val128Met)
|
rs41305623
|
0.00507
|
NM_015040.4(PIKFYVE):c.*3324A>G
|
rs114476866
|
0.00500
|
NM_021615.5(CHST6):c.*991A>G
|
rs142368532
|
0.00492
|
NM_001920.5(DCN):c.917T>C (p.Val306Ala)
|
rs73358055
|
0.00491
|
NM_002353.3(TACSTD2):c.*396T>C
|
rs41313365
|
0.00488
|
NM_207352.4(CYP4V2):c.*4T>C
|
rs76978024
|
0.00479
|
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)
|
rs57865060
|
0.00478
|
NM_001920.5(DCN):c.33A>G (p.Ala11=)
|
rs141738168
|
0.00477
|
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His)
|
rs145178398
|
0.00473
|
NM_001367624.2(ZNF469):c.10855G>A (p.Val3619Met)
|
rs111494864
|
0.00468
|
NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His)
|
rs78446958
|
0.00467
|
NM_014588.6(VSX1):c.*104C>T
|
rs148709299
|
0.00467
|
NM_001174089.2(SLC4A11):c.426C>T (p.Arg142=)
|
rs35262978
|
0.00466
|
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His)
|
rs150598363
|
0.00461
|
NM_012293.3(PXDN):c.3850G>T (p.Val1284Leu)
|
rs147066927
|
0.00460
|
NM_001920.5(DCN):c.975G>A (p.Ser325=)
|
rs80123678
|
0.00454
|
NM_013319.3(UBIAD1):c.*1564C>T
|
rs111893018
|
0.00446
|
NM_013319.3(UBIAD1):c.*552G>A
|
rs111991610
|
0.00446
|
NM_013319.3(UBIAD1):c.*420C>T
|
rs112789142
|
0.00444
|
NM_198252.3(GSN):c.196+7C>T
|
rs146379508
|
0.00444
|
NM_001367624.2(ZNF469):c.*599C>G
|
rs146233624
|
0.00440
|
NM_001920.4(DCN):c.-325A>G
|
rs147956869
|
0.00432
|
NM_015040.4(PIKFYVE):c.*78T>C
|
rs115754381
|
0.00425
|
NM_001367624.2(ZNF469):c.327G>A (p.Ala109=)
|
rs192479136
|
0.00424
|
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser)
|
rs199760004
|
0.00417
|
NM_014588.5(VSX1):c.-197G>A
|
rs116022495
|
0.00408
|
NM_012293.3(PXDN):c.1380G>A (p.Pro460=)
|
rs191647762
|
0.00406
|
NM_000358.3(TGFBI):c.2012-5T>C
|
rs147650812
|
0.00405
|
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu)
|
rs146789160
|
0.00403
|
NM_012293.3(PXDN):c.1018+9C>T
|
rs182152963
|
0.00400
|
NM_012293.3(PXDN):c.1113G>A (p.Pro371=)
|
rs200996147
|
0.00399
|
NM_014588.6(VSX1):c.174G>T (p.Pro58=)
|
rs141241716
|
0.00398
|
NM_021615.5(CHST6):c.*4155C>T
|
rs114790233
|
0.00398
|
NM_019040.5(ELP4):c.*2740G>A
|
rs149777109
|
0.00394
|
NM_001174089.2(SLC4A11):c.1167C>T (p.Ile389=)
|
rs78274653
|
0.00393
|
NM_000494.4(COL17A1):c.1336G>A (p.Gly446Ser)
|
rs149983875
|
0.00383
|
NM_012293.3(PXDN):c.1680+19G>A
|
rs201018276
|
0.00382
|
NM_198252.3(GSN):c.1680C>T (p.Ser560=)
|
rs73660439
|
0.00379
|
NM_198252.3(GSN):c.664-4A>G
|
rs143590302
|
0.00376
|
NM_001367624.2(ZNF469):c.5856T>C (p.Cys1952=)
|
rs186652137
|
0.00374
|
NM_001367624.2(ZNF469):c.5824G>A (p.Gly1942Arg)
|
rs114755302
|
0.00371
|
NM_015040.4(PIKFYVE):c.4215A>G (p.Leu1405=)
|
rs35944808
|
0.00370
|
NM_024915.4(GRHL2):c.1098+9C>T
|
rs189993760
|
0.00370
|
NM_021615.5(CHST6):c.129G>A (p.Val43=)
|
rs112939575
|
0.00366
|
NM_001367624.2(ZNF469):c.9321G>A (p.Pro3107=)
|
rs543846859
|
0.00365
|
NM_021615.5(CHST6):c.*2426T>C
|
rs142614349
|
0.00365
|
NM_021615.5(CHST6):c.*3465T>C
|
rs76471046
|
0.00364
|
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)
|
rs9282671
|
0.00362
|
NM_198252.3(GSN):c.1850G>T (p.Arg617Leu)
|
rs9696578
|
0.00359
|
NM_000104.4(CYP1B1):c.*981T>C
|
rs9341262
|
0.00358
|
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys)
|
rs116185403
|
0.00357
|
NM_001367624.2(ZNF469):c.11658G>C (p.Gln3886His)
|
rs182269913
|
0.00354
|
NM_001174089.2(SLC4A11):c.1169-12G>A
|
rs200921422
|
0.00346
|
NM_001367624.2(ZNF469):c.6388C>G (p.Leu2130Val)
|
rs562559927
|
0.00344
|
NM_001367624.2(ZNF469):c.10472C>G (p.Pro3491Arg)
|
rs183437633
|
0.00340
|
NM_013319.3(UBIAD1):c.867C>T (p.Thr289=)
|
rs113307594
|
0.00340
|
NM_000104.4(CYP1B1):c.*1853G>T
|
rs9341265
|
0.00338
|
NM_001367624.2(ZNF469):c.6259G>A (p.Ala2087Thr)
|
rs144986357
|
0.00330
|
NM_207352.4(CYP4V2):c.*1023T>C
|
rs62348764
|
0.00326
|
NM_033004.4(NLRP1):c.316G>A (p.Gly106Arg)
|
rs72827640
|
0.00324
|
NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=)
|
rs572299080
|
0.00320
|
NM_001174089.2(SLC4A11):c.1722C>G (p.Thr574=)
|
rs144123179
|
0.00316
|
NM_014588.6(VSX1):c.731A>G (p.His244Arg)
|
rs148957473
|
0.00310
|
NM_000104.4(CYP1B1):c.-2G>A
|
rs9341245
|
0.00309
|
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln)
|
rs72646291
|
0.00306
|
NM_015040.4(PIKFYVE):c.4629A>G (p.Ala1543=)
|
rs61752190
|
0.00305
|
NM_019040.5(ELP4):c.*3242G>A
|
rs187705792
|
0.00303
|
NM_198252.3(GSN):c.243C>T (p.Thr81=)
|
rs116956127
|
0.00302
|
NM_015040.4(PIKFYVE):c.173-11C>T
|
rs4675744
|
0.00299
|
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr)
|
rs61745524
|
0.00299
|
NM_000104.4(CYP1B1):c.*1062G>T
|
rs185371002
|
0.00297
|
NM_000358.3(TGFBI):c.134+14C>A
|
rs529657143
|
0.00294
|
NM_001367624.2(ZNF469):c.2931C>T (p.Gly977=)
|
rs539527724
|
0.00287
|
NM_014588.6(VSX1):c.432C>G (p.Asp144Glu)
|
rs140122268
|
0.00286
|
NM_021615.5(CHST6):c.666C>T (p.Asn222=)
|
rs148529501
|
0.00284
|
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)
|
rs189476639
|
0.00283
|
NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp)
|
rs199519673
|
0.00279
|
NM_001367624.2(ZNF469):c.7935G>A (p.Glu2645=)
|
rs189596398
|
0.00279
|
NM_012293.3(PXDN):c.1392C>T (p.Ile464=)
|
rs61749582
|
0.00278
|
NM_001367624.2(ZNF469):c.9161A>C (p.Glu3054Ala)
|
rs139565761
|
0.00277
|
NM_015040.4(PIKFYVE):c.4814T>G (p.Val1605Gly)
|
rs61752191
|
0.00271
|
NM_153427.3(PITX2):c.-211G>A
|
rs111733107
|
0.00270
|
NM_001367624.2(ZNF469):c.3472C>T (p.Pro1158Ser)
|
rs184894059
|
0.00268
|
NM_001367624.2(ZNF469):c.8869G>A (p.Gly2957Ser)
|
rs573884006
|
0.00266
|
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)
|
rs77144743
|
0.00264
|
NM_000104.4(CYP1B1):c.*2333G>A
|
rs35320531
|
0.00263
|
NM_207352.4(CYP4V2):c.*160A>G
|
rs187506967
|
0.00263
|
NM_021615.5(CHST6):c.*1914A>G
|
rs143764747
|
0.00259
|
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val)
|
rs117501524
|
0.00258
|
NM_198252.3(GSN):c.597C>T (p.Asn199=)
|
rs146329975
|
0.00258
|
NM_000104.4(CYP1B1):c.*2349G>A
|
rs9341268
|
0.00257
|
NM_000104.4(CYP1B1):c.*3024T>C
|
rs532039339
|
0.00257
|
NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr)
|
rs145158875
|
0.00255
|
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)
|
rs375045076
|
0.00255
|
NM_153427.2(PITX2):c.-362C>G
|
rs181197472
|
0.00251
|
NM_021615.5(CHST6):c.*3917G>A
|
rs180746384
|
0.00250
|
NM_021615.5(CHST6):c.237C>T (p.Thr79=)
|
rs112148613
|
0.00247
|
NM_000104.4(CYP1B1):c.*2207G>A
|
rs9341267
|
0.00244
|
NM_001367624.2(ZNF469):c.8694C>T (p.Gly2898=)
|
rs114884145
|
0.00244
|
NM_207352.4(CYP4V2):c.*392G>A
|
rs185369023
|
0.00239
|
NM_001174089.2(SLC4A11):c.*109C>T
|
rs143751993
|
0.00238
|
NM_019040.5(ELP4):c.*3713A>T
|
rs138881442
|
0.00236
|
NM_013319.3(UBIAD1):c.*467G>A
|
rs112285480
|
0.00235
|
NM_015040.4(PIKFYVE):c.4774G>A (p.Gly1592Arg)
|
rs148994064
|
0.00234
|
NM_198252.3(GSN):c.1416+16C>T
|
rs116723395
|
0.00233
|
NM_001367624.2(ZNF469):c.6800G>A (p.Arg2267Gln)
|
rs181887079
|
0.00232
|
NM_153427.2(PITX2):c.-1024G>A
|
rs181439547
|
0.00231
|
NM_153427.2(PITX2):c.-1111C>G
|
rs187210297
|
0.00231
|
NM_001920.5(DCN):c.212-6T>C
|
rs191218249
|
0.00230
|
NM_001367624.2(ZNF469):c.6036G>A (p.Thr2012=)
|
rs149961653
|
0.00229
|
NM_015040.4(PIKFYVE):c.6060G>A (p.Leu2020=)
|
rs146239645
|
0.00228
|
NM_000104.4(CYP1B1):c.*118C>G
|
rs1799885
|
0.00226
|
NM_001367624.2(ZNF469):c.10327G>C (p.Gly3443Arg)
|
rs532857190
|
0.00223
|
NM_012293.3(PXDN):c.1176G>T (p.Thr392=)
|
rs140056124
|
0.00223
|
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys)
|
rs117995699
|
0.00222
|
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr)
|
rs199727372
|
0.00222
|
NM_019040.5(ELP4):c.*5347T>C
|
rs117590302
|
0.00220
|
NM_021615.5(CHST6):c.*3750C>A
|
rs142693604
|
0.00220
|
NM_001174089.2(SLC4A11):c.1043-10C>T
|
rs201799793
|
0.00219
|
NM_001367624.2(ZNF469):c.*420G>A
|
rs45532839
|
0.00219
|
NM_021615.5(CHST6):c.130C>T (p.Leu44=)
|
rs140675009
|
0.00219
|
NM_021615.5(CHST6):c.*2947G>T
|
rs112154704
|
0.00217
|
NM_021615.5(CHST6):c.*2210C>G
|
rs111315694
|
0.00216
|
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met)
|
rs202188220
|
0.00214
|
NM_018699.4(PRDM5):c.1283-5C>T
|
rs185134294
|
0.00213
|
NM_001367624.2(ZNF469):c.11568C>T (p.Arg3856=)
|
rs367547260
|
0.00208
|
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=)
|
rs558108271
|
0.00208
|
NM_001367624.2(ZNF469):c.*421G>T
|
rs148260049
|
0.00207
|
NM_012293.3(PXDN):c.3291C>A (p.Pro1097=)
|
rs372463004
|
0.00204
|
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp)
|
rs185919705
|
0.00200
|
NM_000104.4(CYP1B1):c.*1460A>G
|
rs137915099
|
0.00198
|
NM_019040.5(ELP4):c.*4932G>A
|
rs181818313
|
0.00198
|
NM_001367624.2(ZNF469):c.7553C>A (p.Pro2518His)
|
rs201943633
|
0.00196
|
NM_019040.5(ELP4):c.*2040G>C
|
rs183115097
|
0.00194
|
NM_021615.5(CHST6):c.*4291T>C
|
rs72789420
|
0.00194
|
NM_000104.4(CYP1B1):c.147C>A (p.Ser49=)
|
rs4987137
|
0.00191
|
NM_207352.4(CYP4V2):c.*2590T>C
|
rs532291947
|
0.00191
|
NM_012293.3(PXDN):c.4207-6C>T
|
rs117207020
|
0.00190
|
NM_001367624.2(ZNF469):c.*518G>A
|
rs563015267
|
0.00189
|
NM_001368894.2(PAX6):c.*357A>T
|
rs774473337
|
0.00189
|
NM_019040.5(ELP4):c.*3904G>A
|
rs3026397
|
0.00189
|
NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu)
|
rs76389306
|
0.00188
|
NM_015040.4(PIKFYVE):c.*615T>A
|
rs182741783
|
0.00187
|
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu)
|
rs199610834
|
0.00185
|
NM_012293.3(PXDN):c.488+8G>C
|
rs142878073
|
0.00184
|
NM_001367624.2(ZNF469):c.139G>A (p.Gly47Ser)
|
rs138954293
|
0.00180
|
NM_001368894.2(PAX6):c.1075-275A>C
|
rs3026392
|
0.00180
|
NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys)
|
rs200668806
|
0.00179
|
NM_014588.6(VSX1):c.*199G>A
|
rs145201675
|
0.00178
|
NM_153427.2(PITX2):c.-1335C>A
|
rs145638916
|
0.00177
|
NM_013319.3(UBIAD1):c.452A>G (p.Tyr151Cys)
|
rs138443305
|
0.00176
|
NM_001368894.2(PAX6):c.130C>A (p.Arg44=)
|
rs141873759
|
0.00175
|
NM_198252.3(GSN):c.186C>T (p.His62=)
|
rs144551136
|
0.00175
|
NM_001330349.2(UBIAD1):c.618+2704C>T
|
rs573522173
|
0.00172
|
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)
|
rs184458982
|
0.00172
|
NM_001174089.2(SLC4A11):c.992G>A (p.Arg331Gln)
|
rs112163941
|
0.00170
|
NM_207352.4(CYP4V2):c.99G>A (p.Leu33=)
|
rs145611966
|
0.00169
|
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr)
|
rs540655479
|
0.00166
|
NM_153427.2(PITX2):c.-793C>A
|
rs145044365
|
0.00165
|
NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr)
|
rs202132697
|
0.00162
|
NM_013319.3(UBIAD1):c.*18C>T
|
rs191663672
|
0.00162
|
NM_012293.3(PXDN):c.2827C>T (p.Arg943Trp)
|
rs200127189
|
0.00160
|
NM_198252.3(GSN):c.886+19G>T
|
rs200255784
|
0.00159
|
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=)
|
rs149200506
|
0.00158
|
NM_207352.4(CYP4V2):c.*175A>G
|
rs192122143
|
0.00158
|
NM_013319.3(UBIAD1):c.*684C>A
|
rs375520410
|
0.00151
|
NM_019040.5(ELP4):c.*4974C>T
|
rs138035131
|
0.00148
|
NM_001367624.2(ZNF469):c.3504C>T (p.Ser1168=)
|
rs533300920
|
0.00145
|
NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp)
|
rs138137682
|
0.00140
|
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)
|
rs753664726
|
0.00140
|
NM_000104.4(CYP1B1):c.-84T>C
|
rs886055999
|
0.00139
|
NM_000358.3(TGFBI):c.1645G>A (p.Ala549Thr)
|
rs202066916
|
0.00139
|
NM_015040.4(PIKFYVE):c.1715G>A (p.Arg572Gln)
|
rs146158348
|
0.00139
|
NM_015040.4(PIKFYVE):c.*1923A>G
|
rs151104146
|
0.00138
|
NM_000104.4(CYP1B1):c.*1056G>C
|
rs187540802
|
0.00137
|
NM_000104.4(CYP1B1):c.*380G>A
|
rs35007750
|
0.00137
|
NM_000325.6(PITX2):c.819G>A (p.Pro273=)
|
rs148191851
|
0.00135
|
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg)
|
rs569602115
|
0.00135
|
NM_001367624.2(ZNF469):c.725G>T (p.Ser242Ile)
|
rs536586591
|
0.00135
|
NM_002353.3(TACSTD2):c.*281A>C
|
rs181672295
|
0.00134
|
NM_015040.4(PIKFYVE):c.5343G>A (p.Glu1781=)
|
rs140774753
|
0.00134
|
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr)
|
rs76792613
|
0.00133
|
NM_012293.3(PXDN):c.19G>T (p.Gly7Cys)
|
rs775995985
|
0.00133
|
NM_015040.4(PIKFYVE):c.*2693A>G
|
rs564043919
|
0.00126
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_015040.4(PIKFYVE):c.1770C>T (p.Asn590=)
|
rs61752185
|
0.00125
|
NM_001386094.1(AGBL1):c.3044G>C (p.Cys1015Ser)
|
rs181958589
|
0.00124
|
NM_207352.4(CYP4V2):c.*1463G>C
|
rs549421198
|
0.00123
|
NM_000358.3(TGFBI):c.1377C>T (p.Gly459=)
|
rs190191005
|
0.00122
|
NM_033004.4(NLRP1):c.923G>A (p.Arg308Gln)
|
rs140628502
|
0.00122
|
NM_000104.4(CYP1B1):c.1078T>C (p.Leu360=)
|
rs141245683
|
0.00121
|
NM_019040.5(ELP4):c.*1302T>C
|
rs146579778
|
0.00120
|
NM_001174089.2(SLC4A11):c.*323C>T
|
rs148964021
|
0.00118
|
NM_001368894.2(PAX6):c.-107C>T
|
rs111270711
|
0.00117
|
NM_000104.4(CYP1B1):c.*466G>A
|
rs9341260
|
0.00116
|
NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met)
|
rs536725615
|
0.00115
|
NM_012293.3(PXDN):c.648G>A (p.Ala216=)
|
rs183196973
|
0.00115
|
NM_012293.3(PXDN):c.4341C>T (p.Phe1447=)
|
rs147851300
|
0.00114
|
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val)
|
rs139653501
|
0.00113
|
NM_002353.3(TACSTD2):c.*751C>A
|
rs570481691
|
0.00113
|
NM_207352.4(CYP4V2):c.*1159T>A
|
rs565805219
|
0.00111
|
NM_014588.5(VSX1):c.-244G>T
|
rs567067551
|
0.00108
|
NM_015040.4(PIKFYVE):c.2718C>T (p.Tyr906=)
|
rs61752187
|
0.00108
|
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)
|
rs184394424
|
0.00107
|
NM_021615.5(CHST6):c.*1810C>T
|
rs111307793
|
0.00107
|
NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=)
|
rs191234581
|
0.00106
|
NM_000358.3(TGFBI):c.1749C>T (p.Ile583=)
|
rs35909506
|
0.00104
|
NM_021615.5(CHST6):c.*4880G>A
|
rs76741848
|
0.00104
|
NM_000358.3(TGFBI):c.1998G>C (p.Arg666Ser)
|
rs121909217
|
0.00103
|
NM_001367624.2(ZNF469):c.10518G>A (p.Pro3506=)
|
rs376379111
|
0.00103
|
NM_014588.6(VSX1):c.2T>A (p.Met1Lys)
|
rs192303122
|
0.00103
|
NM_198252.3(GSN):c.1225G>A (p.Val409Met)
|
rs140042418
|
0.00103
|
NM_001367624.2(ZNF469):c.4479G>A (p.Pro1493=)
|
rs373162171
|
0.00101
|
NM_021615.5(CHST6):c.993G>T (p.Gln331His)
|
rs140699573
|
0.00101
|
NM_001174089.2(SLC4A11):c.1131C>T (p.Phe377=)
|
rs139297339
|
0.00099
|
NM_012293.3(PXDN):c.2283C>T (p.Thr761=)
|
rs201654539
|
0.00098
|
NM_014588.5(VSX1):c.-289C>G
|
rs575314822
|
0.00097
|
NM_001174089.2(SLC4A11):c.2193G>C (p.Thr731=)
|
rs149912717
|
0.00096
|
NM_001174096.2(ZEB1):c.2414T>C (p.Ile805Thr)
|
rs1577181
|
0.00096
|
NM_012293.3(PXDN):c.1112C>T (p.Pro371Leu)
|
rs201592851
|
0.00096
|
NM_019040.5(ELP4):c.*2525C>A
|
rs183433948
|
0.00096
|
NM_207352.4(CYP4V2):c.*715C>T
|
rs770372165
|
0.00096
|
NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu)
|
rs273585618
|
0.00093
|
NM_001367624.2(ZNF469):c.9373C>T (p.Arg3125Cys)
|
rs543370102
|
0.00093
|
NM_012293.3(PXDN):c.531A>G (p.Thr177=)
|
rs577963506
|
0.00093
|
NM_001367624.2(ZNF469):c.5548C>A (p.Pro1850Thr)
|
rs199932922
|
0.00092
|
NM_001920.5(DCN):c.*148T>G
|
rs564091657
|
0.00091
|
NM_012293.3(PXDN):c.2385G>A (p.Pro795=)
|
rs373265335
|
0.00091
|
NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=)
|
rs554795578
|
0.00090
|
NM_012293.3(PXDN):c.3559G>A (p.Asp1187Asn)
|
rs201763004
|
0.00090
|
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=)
|
rs141950964
|
0.00089
|
NM_015040.4(PIKFYVE):c.2535T>C (p.Ser845=)
|
rs138885638
|
0.00088
|
NM_014588.6(VSX1):c.173C>T (p.Pro58Leu)
|
rs369865672
|
0.00087
|
NM_002353.3(TACSTD2):c.*98C>T
|
rs72672295
|
0.00086
|
NM_015040.4(PIKFYVE):c.*1090A>G
|
rs41305981
|
0.00086
|
NM_153427.2(PITX2):c.-1137G>A
|
rs141922822
|
0.00086
|
NM_198252.3(GSN):c.1637A>G (p.Lys546Arg)
|
rs184844415
|
0.00086
|
NM_000104.4(CYP1B1):c.*1938G>A
|
rs570132783
|
0.00085
|
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys)
|
rs368772806
|
0.00085
|
NM_021615.5(CHST6):c.828G>A (p.Leu276=)
|
rs140327212
|
0.00085
|
NM_207352.4(CYP4V2):c.*2078T>C
|
rs531522779
|
0.00084
|
NM_001174096.2(ZEB1):c.699G>A (p.Thr233=)
|
rs149166539
|
0.00082
|
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys)
|
rs201834513
|
0.00081
|
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn)
|
rs867530230
|
0.00081
|
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys)
|
rs551591362
|
0.00080
|
NM_015040.4(PIKFYVE):c.2892G>A (p.Pro964=)
|
rs146556775
|
0.00080
|
NM_021615.5(CHST6):c.*2417C>T
|
rs188632926
|
0.00080
|
NM_002353.3(TACSTD2):c.*94G>A
|
rs182546579
|
0.00079
|
NM_002353.3(TACSTD2):c.762G>A (p.Glu254=)
|
rs144787622
|
0.00079
|
NM_001367624.2(ZNF469):c.7102G>A (p.Gly2368Ser)
|
rs533944505
|
0.00078
|
NM_001920.4(DCN):c.-249A>G
|
rs189853358
|
0.00078
|
NM_005245.4(FAT1):c.4336G>A (p.Val1446Ile)
|
rs200828005
|
0.00078
|
NM_013319.3(UBIAD1):c.-104G>A
|
rs559993089
|
0.00077
|
NM_018699.3(PRDM5):c.-234C>T
|
rs111704622
|
0.00077
|
NM_207352.4(CYP4V2):c.24C>T (p.Leu8=)
|
rs202148693
|
0.00077
|
NM_015040.4(PIKFYVE):c.4455G>A (p.Ser1485=)
|
rs145498570
|
0.00076
|
NM_019040.5(ELP4):c.*2982G>A
|
rs191399467
|
0.00076
|
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)
|
rs149053004
|
0.00075
|
NM_012293.3(PXDN):c.3743+9G>A
|
rs184138871
|
0.00075
|
NM_015040.4(PIKFYVE):c.2331+12T>A
|
rs188586992
|
0.00075
|
NM_012293.3(PXDN):c.969C>T (p.Ala323=)
|
rs61746899
|
0.00074
|
NM_001174089.2(SLC4A11):c.1704G>A (p.Thr568=)
|
rs147324566
|
0.00073
|
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)
|
rs202205643
|
0.00073
|
NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln)
|
rs200153921
|
0.00073
|
NM_014588.6(VSX1):c.628-4C>T
|
rs181156458
|
0.00073
|
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala)
|
rs273585627
|
0.00072
|
NM_018699.3(PRDM5):c.-172C>T
|
rs558723351
|
0.00072
|
NM_207352.4(CYP4V2):c.*1589C>T
|
rs144839540
|
0.00071
|
NM_015040.4(PIKFYVE):c.*729T>C
|
rs144852130
|
0.00070
|
NM_018699.4(PRDM5):c.342A>C (p.Glu114Asp)
|
rs146228268
|
0.00070
|
NM_001367624.2(ZNF469):c.3950A>G (p.Lys1317Arg)
|
rs772817384
|
0.00068
|
NM_001367624.2(ZNF469):c.9696G>A (p.Thr3232=)
|
rs573582117
|
0.00068
|
NM_015040.4(PIKFYVE):c.2895G>A (p.Ala965=)
|
rs149763308
|
0.00068
|
NM_021615.5(CHST6):c.*1526C>T
|
rs148219139
|
0.00067
|
NM_021615.5(CHST6):c.*3815G>A
|
rs563939196
|
0.00067
|
NM_012293.3(PXDN):c.1656C>T (p.Pro552=)
|
rs200276592
|
0.00066
|
NM_021615.5(CHST6):c.*3441A>T
|
rs529530566
|
0.00066
|
NM_001174089.2(SLC4A11):c.1779C>T (p.Ser593=)
|
rs62208067
|
0.00065
|
NM_001367624.2(ZNF469):c.*1071A>T
|
rs536887736
|
0.00065
|
NM_001368894.2(PAX6):c.*891G>A
|
rs530259403
|
0.00065
|
NM_198252.3(GSN):c.*185G>A
|
rs757682798
|
0.00065
|
NM_000358.3(TGFBI):c.1083C>T (p.Asn361=)
|
rs199645034
|
0.00064
|
NM_000358.3(TGFBI):c.1992C>T (p.Ser664=)
|
rs199781494
|
0.00064
|
NM_001174089.2(SLC4A11):c.1572C>T (p.Leu524=)
|
rs201595005
|
0.00063
|
NM_012293.3(PXDN):c.1347C>T (p.Thr449=)
|
rs184142208
|
0.00063
|
NM_198252.3(GSN):c.1663G>A (p.Val555Met)
|
rs151208452
|
0.00063
|
NM_002353.3(TACSTD2):c.-56C>G
|
rs774270086
|
0.00061
|
NM_019040.5(ELP4):c.*3528A>G
|
rs143185259
|
0.00060
|
NM_000358.3(TGFBI):c.805C>T (p.Leu269Phe)
|
rs199852470
|
0.00058
|
NM_198252.3(GSN):c.1555G>A (p.Ala519Thr)
|
rs147554026
|
0.00058
|
NM_000358.3(TGFBI):c.678C>T (p.Asn226=)
|
rs369362360
|
0.00057
|
NM_014588.6(VSX1):c.474C>G (p.Thr158=)
|
rs199995626
|
0.00057
|
NM_198252.3(GSN):c.1931C>T (p.Thr644Met)
|
rs144434647
|
0.00057
|
NM_000358.3(TGFBI):c.1312C>T (p.His438Tyr)
|
rs148555720
|
0.00056
|
NM_000358.3(TGFBI):c.141C>T (p.Asn47=)
|
rs368854767
|
0.00056
|
NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln)
|
rs571622809
|
0.00056
|
NM_000104.4(CYP1B1):c.*1075G>C
|
rs77105857
|
0.00054
|
NM_015040.4(PIKFYVE):c.3459C>T (p.Ala1153=)
|
rs147976705
|
0.00054
|
NM_021615.5(CHST6):c.1043T>G (p.Leu348Arg)
|
rs189849720
|
0.00054
|
NM_000104.4(CYP1B1):c.*1746T>C
|
rs34169771
|
0.00053
|
NM_207352.4(CYP4V2):c.*1737A>G
|
rs78965616
|
0.00053
|
NM_001083962.2(TCF4):c.*5-10C>T
|
rs552239655
|
0.00052
|
NM_001367624.2(ZNF469):c.11203A>G (p.Ser3735Gly)
|
rs536054902
|
0.00052
|
NM_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys)
|
rs376513000
|
0.00052
|
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=)
|
rs273585636
|
0.00052
|
NM_207352.4(CYP4V2):c.*232G>A
|
rs145900260
|
0.00052
|
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys)
|
rs147067171
|
0.00051
|
NM_000358.3(TGFBI):c.895G>A (p.Asp299Asn)
|
rs202239395
|
0.00051
|
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr)
|
rs553227769
|
0.00051
|
NM_012293.3(PXDN):c.1422C>T (p.Ser474=)
|
rs112778384
|
0.00051
|
NM_012293.3(PXDN):c.4437C>T (p.Pro1479=)
|
rs144382074
|
0.00051
|
NM_021615.5(CHST6):c.1006G>A (p.Ala336Thr)
|
rs79173362
|
0.00051
|
NM_001367624.2(ZNF469):c.7716G>A (p.Gln2572=)
|
rs775513309
|
0.00050
|
NM_013319.3(UBIAD1):c.*612T>C
|
rs886045071
|
0.00050
|
NM_019040.5(ELP4):c.*3523del
|
rs886048188
|
0.00050
|
NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala)
|
rs200221425
|
0.00049
|
NM_001367624.2(ZNF469):c.5537C>T (p.Thr1846Met)
|
rs539550777
|
0.00049
|
NM_001367624.2(ZNF469):c.5577G>A (p.Pro1859=)
|
rs764487066
|
0.00049
|
NM_015040.4(PIKFYVE):c.4156C>T (p.Arg1386Trp)
|
rs188498825
|
0.00049
|
NM_001174089.2(SLC4A11):c.903G>A (p.Thr301=)
|
rs193080010
|
0.00048
|
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)
|
rs146261351
|
0.00048
|
NM_012293.3(PXDN):c.273G>A (p.Leu91=)
|
rs200915485
|
0.00048
|
NM_000104.4(CYP1B1):c.*115G>A
|
rs555706078
|
0.00046
|
NM_012293.3(PXDN):c.3165C>T (p.Pro1055=)
|
rs75454260
|
0.00046
|
NM_021615.5(CHST6):c.1124T>G (p.Val375Gly)
|
rs142097284
|
0.00046
|
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=)
|
rs763826959
|
0.00045
|
NM_001367624.2(ZNF469):c.4216G>T (p.Asp1406Tyr)
|
rs557997233
|
0.00045
|
NM_007035.4(KERA):c.740A>G (p.Asn247Ser)
|
rs121917858
|
0.00045
|
NM_153427.2(PITX2):c.-436G>C
|
rs1026660025
|
0.00045
|
NM_002353.3(TACSTD2):c.899G>A (p.Arg300Gln)
|
rs142263208
|
0.00044
|
NM_000325.6(PITX2):c.*687A>G
|
rs185925533
|
0.00043
|
NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp)
|
rs575820215
|
0.00043
|
NM_012293.3(PXDN):c.921A>G (p.Thr307=)
|
rs117914830
|
0.00043
|
NM_207352.4(CYP4V2):c.*2010G>A
|
rs190455204
|
0.00043
|
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)
|
rs138262189
|
0.00042
|
NM_000358.3(TGFBI):c.852C>A (p.Ala284=)
|
rs189359867
|
0.00041
|
NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg)
|
rs750481489
|
0.00041
|
NM_015040.4(PIKFYVE):c.*2548C>T
|
rs755578829
|
0.00041
|
NM_019040.5(ELP4):c.*2716T>C
|
rs549835579
|
0.00041
|
NM_021615.5(CHST6):c.*972C>A
|
rs561639379
|
0.00041
|
NM_198252.3(GSN):c.271C>T (p.Arg91Trp)
|
rs146956976
|
0.00041
|
NM_001174089.2(SLC4A11):c.765G>A (p.Thr255=)
|
rs78860240
|
0.00039
|
NM_013319.3(UBIAD1):c.*1189A>G
|
rs776390306
|
0.00039
|
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val)
|
rs141705330
|
0.00038
|
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
|
rs143477661
|
0.00038
|
NM_001368894.2(PAX6):c.753G>A (p.Val251=)
|
rs145329506
|
0.00038
|
NM_018699.4(PRDM5):c.743+14G>A
|
rs185567213
|
0.00038
|
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter)
|
rs1004428835
|
0.00037
|
NM_000494.4(COL17A1):c.3739C>T (p.Arg1247Trp)
|
rs144220426
|
0.00036
|
NM_001367624.2(ZNF469):c.4456G>A (p.Asp1486Asn)
|
rs373777402
|
0.00036
|
NM_012293.3(PXDN):c.2097C>T (p.Asn699=)
|
rs369631419
|
0.00036
|
NM_012293.3(PXDN):c.270A>G (p.Thr90=)
|
rs147536472
|
0.00036
|
NM_013319.3(UBIAD1):c.298T>G (p.Leu100Val)
|
rs140612649
|
0.00036
|
NM_014588.6(VSX1):c.81C>T (p.Arg27=)
|
rs566762847
|
0.00036
|
NM_015040.4(PIKFYVE):c.2802T>A (p.Ile934=)
|
rs61752188
|
0.00036
|
NM_015040.4(PIKFYVE):c.3354A>G (p.Gly1118=)
|
rs149005796
|
0.00036
|
NM_018699.4(PRDM5):c.1189-14T>C
|
rs375296023
|
0.00036
|
NM_033004.4(NLRP1):c.272-7C>G
|
rs202080927
|
0.00036
|
NM_000104.4(CYP1B1):c.*1781T>C
|
rs750990195
|
0.00035
|
NM_000325.6(PITX2):c.862C>T (p.Leu288=)
|
rs139401187
|
0.00035
|
NM_000358.3(TGFBI):c.*462C>G
|
rs925448179
|
0.00035
|
NM_000358.3(TGFBI):c.1540C>T (p.Arg514Cys)
|
rs200065806
|
0.00035
|
NM_001368894.2(PAX6):c.978C>T (p.Gly326=)
|
rs115833025
|
0.00035
|
NM_013319.3(UBIAD1):c.837C>T (p.Cys279=)
|
rs201111281
|
0.00035
|
NM_021615.5(CHST6):c.944G>A (p.Arg315His)
|
rs140618049
|
0.00035
|
NM_207352.4(CYP4V2):c.*1774C>T
|
rs779828762
|
0.00035
|
NM_207352.4(CYP4V2):c.*923G>A
|
rs943194261
|
0.00035
|
NM_207352.4(CYP4V2):c.282C>T (p.Val94=)
|
rs142775374
|
0.00035
|
NM_000358.3(TGFBI):c.1676T>G (p.Leu559Trp)
|
rs200219644
|
0.00034
|
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg)
|
rs773925755
|
0.00034
|
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val)
|
rs273585625
|
0.00034
|
NM_013319.3(UBIAD1):c.*1265T>A
|
rs372234308
|
0.00034
|
NM_021615.5(CHST6):c.*5011G>A
|
rs540453877
|
0.00034
|
NM_198252.3(GSN):c.197-4G>A
|
rs375172023
|
0.00034
|
NM_000104.4(CYP1B1):c.*1005C>T
|
rs35978993
|
0.00033
|
NM_012293.3(PXDN):c.1443C>A (p.Val481=)
|
rs370752629
|
0.00033
|
NM_198252.3(GSN):c.1513G>A (p.Gly505Arg)
|
rs58750568
|
0.00033
|
NM_000325.6(PITX2):c.*522T>C
|
rs188349821
|
0.00032
|
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr)
|
rs201540905
|
0.00032
|
NM_014588.6(VSX1):c.*744C>A
|
rs139744143
|
0.00032
|
NM_021615.5(CHST6):c.*1316A>C
|
rs773150182
|
0.00032
|
NM_001174089.2(SLC4A11):c.251C>T (p.Ala84Val)
|
rs145115400
|
0.00031
|
NM_001174089.2(SLC4A11):c.453G>C (p.Glu151Asp)
|
rs141836046
|
0.00031
|
NM_001367624.2(ZNF469):c.4227G>A (p.Pro1409=)
|
rs371897217
|
0.00031
|
NM_001367624.2(ZNF469):c.4507C>G (p.Leu1503Val)
|
rs139043003
|
0.00031
|
NM_001368894.2(PAX6):c.*841C>T
|
rs530931929
|
0.00031
|
NM_012293.3(PXDN):c.4144A>G (p.Thr1382Ala)
|
rs201039175
|
0.00031
|
NM_012293.3(PXDN):c.730+16C>T
|
rs373245706
|
0.00031
|
NM_015040.4(PIKFYVE):c.2881A>G (p.Thr961Ala)
|
rs139991374
|
0.00031
|
NM_019040.5(ELP4):c.*5016T>G
|
rs776894983
|
0.00031
|
NM_207352.4(CYP4V2):c.*2163G>A
|
rs565869902
|
0.00031
|
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu)
|
rs201824781
|
0.00030
|
NM_001174089.2(SLC4A11):c.606-15C>T
|
rs377025499
|
0.00030
|
NM_002353.2(TACSTD2):c.-314G>A
|
rs546965754
|
0.00030
|
NM_013319.3(UBIAD1):c.*295G>A
|
rs904203949
|
0.00030
|
NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His)
|
rs142515463
|
0.00030
|
NM_019040.5(ELP4):c.*1783T>G
|
rs140971065
|
0.00030
|
NM_153427.2(PITX2):c.-1311G>T
|
rs192250966
|
0.00030
|
NM_000104.4(CYP1B1):c.*1683A>G
|
rs189809220
|
0.00029
|
NM_000325.6(PITX2):c.639A>T (p.Ser213=)
|
rs141176394
|
0.00029
|
NM_000358.3(TGFBI):c.1061A>G (p.Asn354Ser)
|
rs201158209
|
0.00029
|
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg)
|
rs143965185
|
0.00029
|
NM_001367624.2(ZNF469):c.4376T>G (p.Leu1459Arg)
|
rs559625962
|
0.00029
|
NM_001920.5(DCN):c.54G>A (p.Pro18=)
|
rs145597441
|
0.00029
|
NM_014588.6(VSX1):c.528G>A (p.Leu176=)
|
rs143099682
|
0.00029
|
NM_021615.5(CHST6):c.*4586T>C
|
rs535487354
|
0.00029
|
NM_198252.3(GSN):c.2069G>A (p.Arg690Gln)
|
rs141510612
|
0.00029
|
NM_001367624.2(ZNF469):c.3326C>T (p.Pro1109Leu)
|
rs562264117
|
0.00028
|
NM_018699.4(PRDM5):c.1031-15T>C
|
rs201474353
|
0.00028
|
NM_021615.5(CHST6):c.976G>T (p.Ala326Ser)
|
rs201349198
|
0.00028
|
NM_021615.5(CHST6):c.*3547C>T
|
rs540649676
|
0.00027
|
NM_021615.5(CHST6):c.*4444A>G
|
rs1048250703
|
0.00027
|
NM_001367624.2(ZNF469):c.10717G>A (p.Gly3573Arg)
|
rs183149417
|
0.00026
|
NM_001367624.2(ZNF469):c.11137C>T (p.Arg3713Cys)
|
rs748126365
|
0.00026
|
NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr)
|
rs273585623
|
0.00026
|
NM_015040.4(PIKFYVE):c.*2143G>C
|
rs184529823
|
0.00026
|
NM_015040.4(PIKFYVE):c.-10+5G>A
|
rs541362896
|
0.00026
|
NM_198252.3(GSN):c.1563C>T (p.Ser521=)
|
rs140414249
|
0.00026
|
NM_198252.3(GSN):c.285C>T (p.His95=)
|
rs142155964
|
0.00026
|
NM_021615.5(CHST6):c.1181G>A (p.Arg394Gln)
|
rs139042144
|
0.00025
|
NM_198252.3(GSN):c.1098G>A (p.Val366=)
|
rs201325199
|
0.00025
|
NM_198252.3(GSN):c.1487A>G (p.Tyr496Cys)
|
rs139832048
|
0.00025
|
NM_207352.4(CYP4V2):c.*452C>T
|
rs564129543
|
0.00025
|
NM_000358.3(TGFBI):c.*119G>A
|
rs142145618
|
0.00024
|
NM_001174089.2(SLC4A11):c.2226G>A (p.Ser742=)
|
rs200879869
|
0.00024
|
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)
|
rs373147550
|
0.00024
|
NM_012293.3(PXDN):c.3862G>A (p.Val1288Met)
|
rs183629867
|
0.00024
|
NM_014588.6(VSX1):c.497G>A (p.Arg166Gln)
|
rs150297220
|
0.00024
|
NM_019040.5(ELP4):c.*4571A>G
|
rs1029065786
|
0.00024
|
NM_153427.2(PITX2):c.-967C>T
|
rs368647502
|
0.00024
|
NM_207352.4(CYP4V2):c.*2266A>G
|
rs934968593
|
0.00024
|
NM_000325.6(PITX2):c.619A>G (p.Met207Val)
|
rs138163892
|
0.00023
|
NM_000494.4(COL17A1):c.4081G>A (p.Gly1361Arg)
|
rs143021968
|
0.00023
|
NM_001174089.2(SLC4A11):c.*27C>T
|
rs148132505
|
0.00023
|
NM_018699.4(PRDM5):c.-61G>C
|
rs556802821
|
0.00023
|
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)
|
rs72549387
|
0.00022
|
NM_000358.3(TGFBI):c.968C>T (p.Ala323Val)
|
rs201210696
|
0.00022
|
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=)
|
rs273585633
|
0.00022
|
NM_015040.4(PIKFYVE):c.-157A>T
|
rs886055529
|
0.00022
|
NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys)
|
rs201325904
|
0.00022
|
NM_021615.5(CHST6):c.*4373dup
|
rs775614448
|
0.00022
|
NM_021615.5(CHST6):c.*5208C>T
|
rs867482636
|
0.00022
|
NM_021615.5(CHST6):c.*824G>A
|
rs540252682
|
0.00022
|
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg)
|
rs28937879
|
0.00022
|
NM_000104.4(CYP1B1):c.*2760C>A
|
rs375588205
|
0.00021
|
NM_000358.3(TGFBI):c.1000A>G (p.Thr334Ala)
|
rs201709971
|
0.00021
|
NM_000358.3(TGFBI):c.1127-11C>T
|
rs376923930
|
0.00021
|
NM_000358.3(TGFBI):c.1741G>A (p.Gly581Arg)
|
rs200887459
|
0.00021
|
NM_001174089.2(SLC4A11):c.1368G>A (p.Ala456=)
|
rs368001060
|
0.00021
|
NM_001174089.2(SLC4A11):c.44-73C>T
|
rs200343026
|
0.00021
|
NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe)
|
rs568197988
|
0.00021
|
NM_012293.3(PXDN):c.481G>A (p.Glu161Lys)
|
rs151054868
|
0.00021
|
NM_015040.4(PIKFYVE):c.3804G>C (p.Gln1268His)
|
rs767989671
|
0.00021
|
NM_015040.4(PIKFYVE):c.4436C>G (p.Thr1479Ser)
|
rs144573813
|
0.00021
|
NM_015040.4(PIKFYVE):c.5322G>C (p.Gln1774His)
|
rs146673873
|
0.00021
|
NM_021615.5(CHST6):c.*4238A>G
|
rs570273277
|
0.00021
|
NM_021615.5(CHST6):c.*5197C>T
|
rs554016597
|
0.00021
|
NM_198252.3(GSN):c.*98T>A
|
rs903037306
|
0.00021
|
NM_198252.3(GSN):c.1325+14G>A
|
rs113863232
|
0.00021
|
NM_207352.4(CYP4V2):c.1103G>A (p.Arg368His)
|
rs138739819
|
0.00021
|
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)
|
rs149684063
|
0.00021
|
NM_001367624.2(ZNF469):c.*617C>T
|
rs886052422
|
0.00020
|
NM_001367624.2(ZNF469):c.4907A>G (p.His1636Arg)
|
rs557636016
|
0.00020
|
NM_001368894.2(PAX6):c.*335T>C
|
rs766518284
|
0.00020
|
NM_019040.5(ELP4):c.*2387C>T
|
rs990066045
|
0.00020
|
NM_021615.5(CHST6):c.*3082G>A
|
rs150839584
|
0.00020
|
NM_198252.3(GSN):c.-9-1943G>A
|
rs568885924
|
0.00020
|
NM_198252.3(GSN):c.-9-1967C>T
|
rs372837702
|
0.00020
|
NM_198252.3(GSN):c.1939G>A (p.Val647Ile)
|
rs752572521
|
0.00020
|
NM_207352.4(CYP4V2):c.674+14T>C
|
rs201205689
|
0.00020
|
NM_000104.4(CYP1B1):c.*1798T>G
|
rs900163227
|
0.00019
|
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg)
|
rs766410344
|
0.00019
|
NM_013319.3(UBIAD1):c.*1535A>T
|
rs536904644
|
0.00019
|
NM_015040.4(PIKFYVE):c.*1358C>T
|
rs777999576
|
0.00019
|
NM_019040.5(ELP4):c.*3433G>T
|
rs192709453
|
0.00019
|
NM_025130.4(HKDC1):c.850G>A (p.Gly284Ser)
|
rs202105296
|
0.00019
|
NM_198252.3(GSN):c.1421G>A (p.Arg474His)
|
rs142828669
|
0.00019
|
NM_012293.3(PXDN):c.3147G>A (p.Glu1049=)
|
rs369851999
|
0.00018
|
NM_012293.3(PXDN):c.3303T>G (p.Ala1101=)
|
rs368271183
|
0.00018
|
NM_021615.5(CHST6):c.656C>T (p.Ala219Val)
|
rs201743866
|
0.00018
|
NM_001174089.2(SLC4A11):c.1944C>T (p.Leu648=)
|
rs376622984
|
0.00017
|
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys)
|
rs281865149
|
0.00017
|
NM_001367624.2(ZNF469):c.7312C>G (p.Pro2438Ala)
|
rs546332627
|
0.00017
|
NM_019040.5(ELP4):c.*3383C>T
|
rs541022955
|
0.00017
|
NM_198252.3(GSN):c.*126T>C
|
rs886063411
|
0.00017
|
NM_001174089.2(SLC4A11):c.1700G>A (p.Gly567Asp)
|
rs139078082
|
0.00016
|
NM_001367624.2(ZNF469):c.3931C>T (p.Pro1311Ser)
|
rs187453092
|
0.00016
|
NM_001367624.2(ZNF469):c.9941A>G (p.Asp3314Gly)
|
rs757791330
|
0.00016
|
NM_001368894.2(PAX6):c.-118T>C
|
rs992201562
|
0.00016
|
NM_001920.5(DCN):c.*80C>T
|
rs531541570
|
0.00016
|
NM_001920.5(DCN):c.529A>T (p.Ile177Phe)
|
rs201430261
|
0.00016
|
NM_012293.3(PXDN):c.1827C>T (p.Leu609=)
|
rs202108023
|
0.00016
|
NM_013319.3(UBIAD1):c.*1010C>T
|
rs886045075
|
0.00016
|
NM_013319.3(UBIAD1):c.*519G>A
|
rs937500463
|
0.00016
|
NM_014588.6(VSX1):c.*416T>C
|
rs976857671
|
0.00016
|
NM_015040.4(PIKFYVE):c.2549C>T (p.Ala850Val)
|
rs144852646
|
0.00016
|
NM_015040.4(PIKFYVE):c.5594C>T (p.Ala1865Val)
|
rs137922460
|
0.00016
|
NM_021615.5(CHST6):c.*3608A>C
|
rs560765910
|
0.00016
|
NM_021615.5(CHST6):c.*4942C>T
|
rs907270252
|
0.00016
|
NM_021615.5(CHST6):c.*522G>C
|
rs770900838
|
0.00016
|
NM_021615.5(CHST6):c.301C>T (p.Leu101=)
|
rs373160858
|
0.00016
|
NM_153427.3(PITX2):c.-40G>A
|
rs942688607
|
0.00016
|
NM_198252.3(GSN):c.1727C>G (p.Ala576Gly)
|
rs567372749
|
0.00016
|
NM_198252.3(GSN):c.754-11C>T
|
rs374057474
|
0.00016
|
NM_000104.4(CYP1B1):c.850C>T (p.Arg284Trp)
|
rs368249322
|
0.00015
|
NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln)
|
rs121912771
|
0.00015
|
NM_001367624.2(ZNF469):c.7514C>T (p.Pro2505Leu)
|
rs552311966
|
0.00015
|
NM_012293.3(PXDN):c.165G>A (p.Glu55=)
|
rs781119752
|
0.00015
|
NM_012293.3(PXDN):c.2787G>A (p.Leu929=)
|
rs753095408
|
0.00015
|
NM_012293.3(PXDN):c.2999C>T (p.Thr1000Met)
|
rs201077249
|
0.00015
|
NM_012293.3(PXDN):c.612G>A (p.Ala204=)
|
rs748974745
|
0.00015
|
NM_021615.5(CHST6):c.*5452G>C
|
rs886052293
|
0.00015
|
NM_021615.5(CHST6):c.-115C>G
|
rs886052324
|
0.00015
|
NM_033004.4(NLRP1):c.439C>T (p.Arg147Cys)
|
rs147371989
|
0.00015
|
NM_000104.4(CYP1B1):c.1089C>T (p.Val363=)
|
rs148461905
|
0.00014
|
NM_001174089.2(SLC4A11):c.370G>A (p.Val124Ile)
|
rs148613811
|
0.00014
|
NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys)
|
rs546141859
|
0.00014
|
NM_001368894.2(PAX6):c.807+5C>T
|
rs376564909
|
0.00014
|
NM_001920.5(DCN):c.621T>G (p.Ile207Met)
|
rs373676217
|
0.00014
|
NM_012293.3(PXDN):c.1596C>T (p.Ser532=)
|
rs375578544
|
0.00014
|
NM_012293.3(PXDN):c.1789C>T (p.Arg597Trp)
|
rs373022614
|
0.00014
|
NM_013319.3(UBIAD1):c.*1671G>A
|
rs544393884
|
0.00014
|
NM_014588.6(VSX1):c.50T>C (p.Leu17Pro)
|
rs74315436
|
0.00014
|
NM_021615.5(CHST6):c.*1118A>G
|
rs191429909
|
0.00014
|
NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln)
|
rs142411476
|
0.00014
|
NM_198252.3(GSN):c.1191+4C>T
|
rs372713895
|
0.00014
|
NM_198252.3(GSN):c.1538G>A (p.Arg513His)
|
rs148410442
|
0.00014
|
NM_000104.4(CYP1B1):c.*1269T>A
|
rs570388762
|
0.00013
|
NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys)
|
rs148542782
|
0.00013
|
NM_000358.3(TGFBI):c.*72T>C
|
rs373984033
|
0.00013
|
NM_000358.3(TGFBI):c.1439C>T (p.Ala480Val)
|
rs192398905
|
0.00013
|
NM_001174089.2(SLC4A11):c.2058C>G (p.Leu686=)
|
rs141079217
|
0.00013
|
NM_001174089.2(SLC4A11):c.523+9G>A
|
rs200962876
|
0.00013
|
NM_001367624.2(ZNF469):c.11107G>A (p.Val3703Met)
|
rs151127652
|
0.00013
|
NM_001367624.2(ZNF469):c.4892G>A (p.Gly1631Glu)
|
rs755244502
|
0.00013
|
NM_001367624.2(ZNF469):c.7497G>A (p.Pro2499=)
|
rs768288160
|
0.00013
|
NM_001367624.2(ZNF469):c.8785G>A (p.Glu2929Lys)
|
rs578166707
|
0.00013
|
NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu)
|
rs777666112
|
0.00013
|
NM_001368894.2(PAX6):c.957G>A (p.Pro319=)
|
rs146433004
|
0.00013
|
NM_012293.3(PXDN):c.3175G>A (p.Ala1059Thr)
|
rs186563338
|
0.00013
|
NM_012293.3(PXDN):c.3551C>T (p.Thr1184Met)
|
rs370226454
|
0.00013
|
NM_012293.3(PXDN):c.4123A>C (p.Thr1375Pro)
|
rs371739601
|
0.00013
|
NM_013319.3(UBIAD1):c.*239G>A
|
rs766089759
|
0.00013
|
NM_014588.6(VSX1):c.281C>A (p.Ala94Glu)
|
rs886056557
|
0.00013
|
NM_021615.5(CHST6):c.*2131C>T
|
rs192587632
|
0.00013
|
NM_021615.5(CHST6):c.*4085C>T
|
rs144466579
|
0.00013
|
NM_021615.5(CHST6):c.*435C>T
|
rs375230497
|
0.00013
|
NM_021615.5(CHST6):c.*5150G>A
|
rs777374430
|
0.00013
|
NM_198252.3(GSN):c.1170C>T (p.Asp390=)
|
rs147583697
|
0.00013
|
NM_207352.4(CYP4V2):c.1120G>T (p.Asp374Tyr)
|
rs376015936
|
0.00013
|
NM_001174089.2(SLC4A11):c.1020G>A (p.Leu340=)
|
rs190463957
|
0.00012
|
NM_001174089.2(SLC4A11):c.1419G>A (p.Ser473=)
|
rs149866580
|
0.00012
|
NM_001174089.2(SLC4A11):c.2340C>T (p.Leu780=)
|
rs199634796
|
0.00012
|
NM_001367624.2(ZNF469):c.*218G>A
|
rs137889724
|
0.00012
|
NM_001367624.2(ZNF469):c.*285C>T
|
rs35994806
|
0.00012
|
NM_001367624.2(ZNF469):c.10354G>A (p.Gly3452Ser)
|
rs548646578
|
0.00012
|
NM_001367624.2(ZNF469):c.11038T>A (p.Ser3680Thr)
|
rs746733236
|
0.00012
|
NM_001367624.2(ZNF469):c.3565C>A (p.Pro1189Thr)
|
rs766878740
|
0.00012
|
NM_001367624.2(ZNF469):c.7340G>C (p.Arg2447Thr)
|
rs558035857
|
0.00012
|
NM_001920.5(DCN):c.671C>T (p.Thr224Met)
|
rs144174426
|
0.00012
|
NM_012293.3(PXDN):c.3766G>A (p.Val1256Met)
|
rs772632642
|
0.00012
|
NM_014588.6(VSX1):c.717G>A (p.Gly239=)
|
rs141410824
|
0.00012
|
NM_018699.4(PRDM5):c.248G>A (p.Arg83His)
|
rs201945549
|
0.00012
|
NM_153427.3(PITX2):c.-79G>A
|
rs535056127
|
0.00012
|
NM_198252.3(GSN):c.1190A>G (p.Gln397Arg)
|
rs368537807
|
0.00012
|
NM_198252.3(GSN):c.1782G>A (p.Leu594=)
|
rs139239940
|
0.00012
|
NM_198252.3(GSN):c.431G>A (p.Arg144Gln)
|
rs144099356
|
0.00012
|
NM_207352.4(CYP4V2):c.*1986G>A
|
rs146050895
|
0.00012
|
NM_000104.4(CYP1B1):c.*1141A>G
|
rs759611970
|
0.00011
|
NM_000104.4(CYP1B1):c.*917G>A
|
rs3755026
|
0.00011
|
NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val)
|
rs56339482
|
0.00011
|
NM_000358.3(TGFBI):c.1643G>A (p.Arg548Gln)
|
rs138125037
|
0.00011
|
NM_001174089.2(SLC4A11):c.2193-13C>T
|
rs199569836
|
0.00011
|
NM_001174089.2(SLC4A11):c.2388+7G>A
|
rs117959552
|
0.00011
|
NM_001367624.2(ZNF469):c.*216G>A
|
rs146964491
|
0.00011
|
NM_001367624.2(ZNF469):c.10740C>T (p.Asn3580=)
|
rs527707590
|
0.00011
|
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu)
|
rs754458926
|
0.00011
|
NM_001367624.2(ZNF469):c.5707C>T (p.Arg1903Cys)
|
rs757657013
|
0.00011
|
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro)
|
rs529250336
|
0.00011
|
NM_001367624.2(ZNF469):c.951C>T (p.Ala317=)
|
rs561239255
|
0.00011
|
NM_001368894.2(PAX6):c.10+17T>C
|
rs766982377
|
0.00011
|
NM_001368894.2(PAX6):c.1023C>T (p.Ser341=)
|
rs139416026
|
0.00011
|
NM_001368894.2(PAX6):c.1236C>T (p.Ser412=)
|
rs78290542
|
0.00011
|
NM_002353.3(TACSTD2):c.735C>T (p.Arg245=)
|
rs145491347
|
0.00011
|
NM_013319.3(UBIAD1):c.*1506T>C
|
rs896437124
|
0.00011
|
NM_014588.5(VSX1):c.*820T>C
|
rs186958062
|
0.00011
|
NM_015040.4(PIKFYVE):c.2016T>G (p.Gly672=)
|
rs148810695
|
0.00011
|
NM_015040.4(PIKFYVE):c.5434+12A>T
|
rs182134444
|
0.00011
|
NM_018699.4(PRDM5):c.1282+9C>T
|
rs79915407
|
0.00011
|
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe)
|
rs199602365
|
0.00011
|
NM_019040.5(ELP4):c.*4323G>T
|
rs923696320
|
0.00011
|
NM_019040.5(ELP4):c.*4806T>A
|
rs189545730
|
0.00011
|
NM_021615.5(CHST6):c.799C>T (p.Arg267Cys)
|
rs750027288
|
0.00011
|
NM_024915.4(GRHL2):c.641G>A (p.Ser214Asn)
|
rs199931364
|
0.00011
|
NM_198252.3(GSN):c.2046G>A (p.Thr682=)
|
rs747385746
|
0.00011
|
NM_198252.3(GSN):c.2082C>T (p.Thr694=)
|
rs368986042
|
0.00011
|
NM_000358.3(TGFBI):c.*40C>T
|
rs376033284
|
0.00010
|
NM_000358.3(TGFBI):c.2005C>T (p.Arg669Ter)
|
rs201554996
|
0.00010
|
NM_001083962.2(TCF4):c.923-17G>T
|
rs550597992
|
0.00010
|
NM_001174089.2(SLC4A11):c.789C>T (p.Ile263=)
|
rs367721824
|
0.00010
|
NM_001367624.2(ZNF469):c.1627G>A (p.Gly543Ser)
|
rs281865145
|
0.00010
|
NM_001367624.2(ZNF469):c.402C>T (p.Asp134=)
|
rs569036398
|
0.00010
|
NM_001367624.2(ZNF469):c.6809C>A (p.Ser2270Tyr)
|
rs273585624
|
0.00010
|
NM_001367624.2(ZNF469):c.7931G>A (p.Arg2644Gln)
|
rs281865152
|
0.00010
|
NM_001367624.2(ZNF469):c.8654C>T (p.Pro2885Leu)
|
rs886052413
|
0.00010
|
NM_001920.5(DCN):c.*105G>A
|
rs191434778
|
0.00010
|
NM_014588.6(VSX1):c.*506T>C
|
rs886056554
|
0.00010
|
NM_015040.4(PIKFYVE):c.*518C>A
|
rs148739344
|
0.00010
|
NM_018699.4(PRDM5):c.*154A>T
|
rs181244989
|
0.00010
|
NM_021615.5(CHST6):c.*4470C>T
|
rs886052297
|
0.00010
|
NM_021615.5(CHST6):c.585A>G (p.Leu195=)
|
rs138994371
|
0.00010
|
NM_198252.3(GSN):c.*205G>A
|
rs779431879
|
0.00010
|
NM_207352.4(CYP4V2):c.*1851A>G
|
rs886059293
|
0.00010
|
NM_207352.4(CYP4V2):c.1289C>T (p.Pro430Leu)
|
rs144008429
|
0.00010
|
NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile)
|
rs59472972
|
0.00009
|
NM_000325.6(PITX2):c.*176A>T
|
rs567517676
|
0.00009
|
NM_001174089.2(SLC4A11):c.1929C>T (p.Ser643=)
|
rs533752647
|
0.00009
|
NM_001204398.1(PITX2):c.-11+12T>C
|
rs140614517
|
0.00009
|
NM_001367624.2(ZNF469):c.*492G>A
|
rs190108769
|
0.00009
|
NM_001367624.2(ZNF469):c.11185G>A (p.Gly3729Ser)
|
rs273585629
|
0.00009
|
NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp)
|
rs770109867
|
0.00009
|
NM_001367624.2(ZNF469):c.3452C>T (p.Ala1151Val)
|
rs755348435
|
0.00009
|
NM_001367624.2(ZNF469):c.5145G>A (p.Arg1715=)
|
rs577775261
|
0.00009
|
NM_001367624.2(ZNF469):c.9921G>A (p.Thr3307=)
|
rs533072680
|
0.00009
|
NM_001368894.2(PAX6):c.465C>G (p.Gly155=)
|
rs139803630
|
0.00009
|
NM_001920.5(DCN):c.-180A>T
|
rs757178906
|
0.00009
|
NM_002353.3(TACSTD2):c.720C>A (p.Gly240=)
|
rs762401640
|
0.00009
|
NM_014443.3(IL17B):c.527G>A (p.Cys176Tyr)
|
rs201298520
|
0.00009
|
NM_014588.6(VSX1):c.165C>A (p.Cys55Ter)
|
rs756572706
|
0.00009
|
NM_014588.6(VSX1):c.389G>A (p.Gly130Asp)
|
rs112232028
|
0.00009
|
NM_014588.6(VSX1):c.60C>T (p.Gly20=)
|
rs776758064
|
0.00009
|
NM_015040.4(PIKFYVE):c.4585A>C (p.Arg1529=)
|
rs199542979
|
0.00009
|
NM_017449.5(EPHB2):c.787G>A (p.Val263Ile)
|
rs150803261
|
0.00009
|
NM_018699.4(PRDM5):c.1722G>A (p.Gln574=)
|
rs147796327
|
0.00009
|
NM_021615.5(CHST6):c.*2055del
|
rs886052307
|
0.00009
|
NM_021615.5(CHST6):c.15C>T (p.Arg5=)
|
rs762744897
|
0.00009
|
NM_021615.5(CHST6):c.1A>T (p.Met1Leu)
|
rs755563003
|
0.00009
|
NM_033004.4(NLRP1):c.1040T>G (p.Val347Gly)
|
rs201743343
|
0.00009
|
NM_033004.4(NLRP1):c.164C>T (p.Ser55Leu)
|
rs201750573
|
0.00009
|
NM_198252.3(GSN):c.276C>T (p.Ala92=)
|
rs548138013
|
0.00009
|
NM_198252.3(GSN):c.303C>T (p.Phe101=)
|
rs373779982
|
0.00009
|
NM_198252.3(GSN):c.741C>T (p.Ala247=)
|
rs751823302
|
0.00009
|
NM_198252.3(GSN):c.856G>A (p.Gly286Ser)
|
rs151155909
|
0.00009
|
NM_207352.4(CYP4V2):c.*1238C>T
|
rs180813595
|
0.00009
|
NM_207352.4(CYP4V2):c.-178C>T
|
rs886059279
|
0.00009
|
NM_000104.4(CYP1B1):c.*233A>G
|
rs9341259
|
0.00008
|
NM_000104.4(CYP1B1):c.-80C>G
|
rs894434388
|
0.00008
|
NM_001367624.2(ZNF469):c.11164G>A (p.Ala3722Thr)
|
rs549874193
|
0.00008
|
NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu)
|
rs769853271
|
0.00008
|
NM_001367624.2(ZNF469):c.4972T>A (p.Trp1658Arg)
|
rs554985503
|
0.00008
|
NM_001367624.2(ZNF469):c.609C>A (p.Pro203=)
|
rs886052390
|
0.00008
|
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser)
|
rs759032227
|
0.00008
|
NM_001367624.2(ZNF469):c.8387C>G (p.Pro2796Arg)
|
rs886052412
|
0.00008
|
NM_001367624.2(ZNF469):c.8801T>A (p.Leu2934Gln)
|
rs764531239
|
0.00008
|
NM_001367624.2(ZNF469):c.942G>A (p.Pro314=)
|
rs767588443
|
0.00008
|
NM_001368894.2(PAX6):c.11-12C>G
|
rs766046559
|
0.00008
|
NM_001368894.2(PAX6):c.958+4A>T
|
rs765926181
|
0.00008
|
NM_001920.4(DCN):c.-307A>G
|
rs886049891
|
0.00008
|
NM_013319.3(UBIAD1):c.*234C>T
|
rs1057311020
|
0.00008
|
NM_013319.3(UBIAD1):c.*709C>T
|
rs752647371
|
0.00008
|
NM_014588.6(VSX1):c.*112A>G
|
rs757521024
|
0.00008
|
NM_015040.4(PIKFYVE):c.2459-10T>C
|
rs751439088
|
0.00008
|
NM_015040.4(PIKFYVE):c.5137A>G (p.Ser1713Gly)
|
rs376604887
|
0.00008
|
NM_018699.4(PRDM5):c.300+17C>T
|
rs376707809
|
0.00008
|
NM_019040.5(ELP4):c.*2845T>C
|
rs1006923180
|
0.00008
|
NM_019040.5(ELP4):c.*5123T>A
|
rs576321279
|
0.00008
|
NM_021615.5(CHST6):c.1082T>C (p.Val361Ala)
|
rs150880663
|
0.00008
|
NM_000104.4(CYP1B1):c.1319T>G (p.Phe440Cys)
|
rs771737035
|
0.00007
|
NM_000104.4(CYP1B1):c.226C>A (p.Arg76Ser)
|
rs377210850
|
0.00007
|
NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met)
|
rs375391843
|
0.00007
|
NM_000104.4(CYP1B1):c.711G>T (p.Ala237=)
|
rs780375338
|
0.00007
|
NM_001174089.2(SLC4A11):c.1959C>A (p.Ser653=)
|
rs140234175
|
0.00007
|
NM_001174089.2(SLC4A11):c.631C>T (p.Arg211Trp)
|
rs772277691
|
0.00007
|
NM_001174089.2(SLC4A11):c.883G>A (p.Gly295Ser)
|
rs146274937
|
0.00007
|
NM_001367624.2(ZNF469):c.11244C>T (p.Ser3748=)
|
rs936296523
|
0.00007
|
NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro)
|
rs370402083
|
0.00007
|
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His)
|
rs567038987
|
0.00007
|
NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys)
|
rs896312288
|
0.00007
|
NM_001367624.2(ZNF469):c.6075G>A (p.Ala2025=)
|
rs373300146
|
0.00007
|
NM_001367624.2(ZNF469):c.9894C>T (p.Asp3298=)
|
rs551298094
|
0.00007
|
NM_013319.3(UBIAD1):c.*1580C>T
|
rs961079383
|
0.00007
|
NM_015040.4(PIKFYVE):c.1954G>A (p.Val652Ile)
|
rs145916346
|
0.00007
|
NM_019040.5(ELP4):c.*2502G>A
|
rs886048185
|
0.00007
|
NM_021615.5(CHST6):c.496C>G (p.Arg166Gly)
|
rs141965945
|
0.00007
|
NM_198252.3(GSN):c.-9-1951G>T
|
rs772288409
|
0.00007
|
NM_198252.3(GSN):c.126C>T (p.Asp42=)
|
rs200027070
|
0.00007
|
NM_198252.3(GSN):c.1485C>T (p.Ile495=)
|
rs374982895
|
0.00007
|
NM_198252.3(GSN):c.547C>T (p.Arg183Trp)
|
rs371175865
|
0.00007
|
NM_207352.4(CYP4V2):c.1184T>C (p.Val395Ala)
|
rs143711287
|
0.00007
|
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr)
|
rs148216434
|
0.00006
|
NM_000104.4(CYP1B1):c.*1491G>T
|
rs562799717
|
0.00006
|
NM_000104.4(CYP1B1):c.653A>T (p.Asp218Val)
|
rs72549383
|
0.00006
|
NM_000325.6(PITX2):c.*440C>T
|
rs1301785358
|
0.00006
|
NM_000358.3(TGFBI):c.1291A>G (p.Thr431Ala)
|
rs554088498
|
0.00006
|
NM_000358.3(TGFBI):c.1513G>A (p.Val505Ile)
|
rs201775031
|
0.00006
|
NM_000358.3(TGFBI):c.739A>C (p.Ile247Leu)
|
rs370262564
|
0.00006
|
NM_001174089.2(SLC4A11):c.120C>T (p.Phe40=)
|
rs577502313
|
0.00006
|
NM_001174089.2(SLC4A11):c.1890G>A (p.Ala630=)
|
rs376848818
|
0.00006
|
NM_001174089.2(SLC4A11):c.209A>G (p.Asn70Ser)
|
rs371191159
|
0.00006
|
NM_001174089.2(SLC4A11):c.242-6C>T
|
rs761855363
|
0.00006
|
NM_001367624.2(ZNF469):c.11221G>A (p.Gly3741Ser)
|
rs745385522
|
0.00006
|
NM_001367624.2(ZNF469):c.11546G>A (p.Arg3849Gln)
|
rs775672255
|
0.00006
|
NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn)
|
rs749179728
|
0.00006
|
NM_001367624.2(ZNF469):c.4574G>C (p.Ser1525Thr)
|
rs545662898
|
0.00006
|
NM_001367624.2(ZNF469):c.4771G>T (p.Ala1591Ser)
|
rs755066385
|
0.00006
|
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser)
|
rs537085488
|
0.00006
|
NM_001367624.2(ZNF469):c.7062G>A (p.Thr2354=)
|
rs866760637
|
0.00006
|
NM_001367624.2(ZNF469):c.7116C>G (p.Thr2372=)
|
rs762487170
|
0.00006
|
NM_001367624.2(ZNF469):c.7831G>A (p.Glu2611Lys)
|
rs281865151
|
0.00006
|
NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser)
|
rs761603858
|
0.00006
|
NM_001367624.2(ZNF469):c.8806G>A (p.Glu2936Lys)
|
rs762301873
|
0.00006
|
NM_001368894.2(PAX6):c.*90A>C
|
rs572377074
|
0.00006
|
NM_001368894.2(PAX6):c.-368G>A
|
rs886048206
|
0.00006
|
NM_001368894.2(PAX6):c.462C>T (p.Asp154=)
|
rs1800427
|
0.00006
|
NM_001920.5(DCN):c.-187A>G
|
rs551534809
|
0.00006
|
NM_002353.2(TACSTD2):c.-104C>G
|
rs886046457
|
0.00006
|
NM_002353.3(TACSTD2):c.257C>G (p.Ala86Gly)
|
rs772658288
|
0.00006
|
NM_012293.3(PXDN):c.3655G>T (p.Val1219Leu)
|
rs372395551
|
0.00006
|
NM_013319.3(UBIAD1):c.*1876G>A
|
rs959093111
|
0.00006
|
NM_013319.3(UBIAD1):c.*531C>A
|
rs550736303
|
0.00006
|
NM_013319.3(UBIAD1):c.*675A>G
|
rs376227906
|
0.00006
|
NM_013319.3(UBIAD1):c.-311C>T
|
rs886045057
|
0.00006
|
NM_013319.3(UBIAD1):c.751C>A (p.Leu251Ile)
|
rs780282620
|
0.00006
|
NM_014588.6(VSX1):c.*223G>A
|
rs752720378
|
0.00006
|
NM_014588.6(VSX1):c.379C>T (p.Pro127Ser)
|
rs1427801501
|
0.00006
|
NM_014588.6(VSX1):c.475T>A (p.Leu159Met)
|
rs74315434
|
0.00006
|
NM_015040.4(PIKFYVE):c.*3186A>T
|
rs753724076
|
0.00006
|
NM_015040.4(PIKFYVE):c.*552T>G
|
rs886055536
|
0.00006
|
NM_015040.4(PIKFYVE):c.*798A>G
|
rs886055540
|
0.00006
|
NM_018699.4(PRDM5):c.*176T>C
|
rs558671397
|
0.00006
|
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu)
|
rs187637689
|
0.00006
|
NM_019040.5(ELP4):c.*3092T>C
|
rs371438311
|
0.00006
|
NM_019040.5(ELP4):c.*4441T>C
|
rs1452069622
|
0.00006
|
NM_021615.5(CHST6):c.*106G>T
|
rs958743404
|
0.00006
|
NM_021615.5(CHST6):c.*1758A>T
|
rs571537815
|
0.00006
|
NM_021615.5(CHST6):c.*241C>T
|
rs886052320
|
0.00006
|
NM_021615.5(CHST6):c.*2635G>A
|
rs147675835
|
0.00006
|
NM_021615.5(CHST6):c.*4566A>G
|
rs950574157
|
0.00006
|
NM_021615.5(CHST6):c.*5149C>T
|
rs192151525
|
0.00006
|
NM_153427.2(PITX2):c.-1421G>C
|
rs758425186
|
0.00006
|
NM_153427.2(PITX2):c.-501T>G
|
rs915152120
|
0.00006
|
NM_198252.3(GSN):c.1191+14G>A
|
rs377308627
|
0.00006
|
NM_198252.3(GSN):c.1420C>T (p.Arg474Cys)
|
rs138341672
|
0.00006
|
NM_198252.3(GSN):c.427G>A (p.Gly143Arg)
|
rs750132751
|
0.00006
|
NM_198252.3(GSN):c.602G>A (p.Arg201Gln)
|
rs774085705
|
0.00006
|
NM_198252.3(GSN):c.638G>A (p.Gly213Asp)
|
rs371320840
|
0.00006
|
NM_207352.4(CYP4V2):c.*1690C>T
|
rs536605930
|
0.00006
|
NM_207352.4(CYP4V2):c.*2176T>C
|
rs543284486
|
0.00006
|
NM_207352.4(CYP4V2):c.*2303G>C
|
rs576134216
|
0.00006
|
NM_207352.4(CYP4V2):c.1339G>A (p.Glu447Lys)
|
rs200623218
|
0.00006
|
NM_000104.4(CYP1B1):c.*2597A>G
|
rs746236755
|
0.00005
|
NM_000104.4(CYP1B1):c.1047T>C (p.Tyr349=)
|
rs775908245
|
0.00005
|
NM_000358.3(TGFBI):c.1631A>G (p.Asn544Ser)
|
rs777288957
|
0.00005
|
NM_001174089.2(SLC4A11):c.2192+1G>A
|
rs759540763
|
0.00005
|
NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)
|
rs121909394
|
0.00005
|
NM_001174089.2(SLC4A11):c.430G>A (p.Ala144Thr)
|
rs752287261
|
0.00005
|
NM_001367624.2(ZNF469):c.11052G>A (p.Ser3684=)
|
rs780722176
|
0.00005
|
NM_001367624.2(ZNF469):c.4258G>A (p.Glu1420Lys)
|
rs387907063
|
0.00005
|
NM_001367624.2(ZNF469):c.4947G>A (p.Ala1649=)
|
rs770986542
|
0.00005
|
NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg)
|
rs1163683032
|
0.00005
|
NM_001367624.2(ZNF469):c.98C>T (p.Pro33Leu)
|
rs752770883
|
0.00005
|
NM_001368894.2(PAX6):c.438C>T (p.Ser146=)
|
rs146769256
|
0.00005
|
NM_001368894.2(PAX6):c.699A>G (p.Gln233=)
|
rs539046948
|
0.00005
|
NM_001920.5(DCN):c.*354A>G
|
rs778805558
|
0.00005
|
NM_012293.3(PXDN):c.2394G>A (p.Val798=)
|
rs548975446
|
0.00005
|
NM_012293.3(PXDN):c.31C>T (p.Arg11Cys)
|
rs995348999
|
0.00005
|
NM_014588.6(VSX1):c.*3C>A
|
rs201807082
|
0.00005
|
NM_015040.4(PIKFYVE):c.5573G>A (p.Arg1858Gln)
|
rs2289170
|
0.00005
|
NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg)
|
rs374583073
|
0.00005
|
NM_018699.4(PRDM5):c.1623+8T>C
|
rs201965676
|
0.00005
|
NM_019040.5(ELP4):c.*2664G>A
|
rs567720234
|
0.00005
|
NM_021615.5(CHST6):c.*2503G>A
|
rs534652248
|
0.00005
|
NM_021615.5(CHST6):c.*3297C>T
|
rs891021575
|
0.00005
|
NM_021615.5(CHST6):c.*3516T>C
|
rs886052300
|
0.00005
|
NM_021615.5(CHST6):c.*712G>A
|
rs565082451
|
0.00005
|
NM_021615.5(CHST6):c.500C>T (p.Ser167Phe)
|
rs756399261
|
0.00005
|
NM_021615.5(CHST6):c.6G>A (p.Trp2Ter)
|
rs753928736
|
0.00005
|
NM_021615.5(CHST6):c.918C>T (p.Ile306=)
|
rs576445739
|
0.00005
|
NM_153427.2(PITX2):c.-270A>G
|
rs1163979542
|
0.00005
|
NM_198252.3(GSN):c.1423G>T (p.Val475Leu)
|
rs766945413
|
0.00005
|
NM_207352.4(CYP4V2):c.*2189A>G
|
rs537197865
|
0.00005
|
NM_207352.4(CYP4V2):c.*2373G>C
|
rs572480731
|
0.00005
|
NM_207352.4(CYP4V2):c.*810C>G
|
rs11947391
|
0.00005
|
NM_000104.4(CYP1B1):c.*1346A>G
|
rs960122791
|
0.00004
|
NM_000104.4(CYP1B1):c.*2209A>G
|
rs949462503
|
0.00004
|
NM_000104.4(CYP1B1):c.*2499T>C
|
rs886055988
|
0.00004
|
NM_000104.4(CYP1B1):c.367T>C (p.Phe123Leu)
|
rs769402060
|
0.00004
|
NM_000104.4(CYP1B1):c.918G>A (p.Gly306=)
|
rs748708268
|
0.00004
|
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)
|
rs369263247
|
0.00004
|
NM_001174089.2(SLC4A11):c.*351C>T
|
rs776616609
|
0.00004
|
NM_001174089.2(SLC4A11):c.259G>A (p.Gly87Ser)
|
rs781159564
|
0.00004
|
NM_001174089.2(SLC4A11):c.449A>G (p.Asn150Ser)
|
rs202002249
|
0.00004
|
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)
|
rs756543273
|
0.00004
|
NM_001367624.2(ZNF469):c.11566C>T (p.Arg3856Cys)
|
rs762894872
|
0.00004
|
NM_001367624.2(ZNF469):c.1719C>T (p.His573=)
|
rs552893295
|
0.00004
|
NM_001367624.2(ZNF469):c.2063C>A (p.Thr688Asn)
|
rs281865146
|
0.00004
|
NM_001367624.2(ZNF469):c.290C>T (p.Pro97Leu)
|
rs273585617
|
0.00004
|
NM_001367624.2(ZNF469):c.3332T>C (p.Phe1111Ser)
|
rs765069829
|
0.00004
|
NM_001367624.2(ZNF469):c.4849C>T (p.Pro1617Ser)
|
rs557351664
|
0.00004
|
NM_001367624.2(ZNF469):c.536G>C (p.Gly179Ala)
|
rs760014906
|
0.00004
|
NM_001367624.2(ZNF469):c.6846C>T (p.Ala2282=)
|
rs748097865
|
0.00004
|
NM_001367624.2(ZNF469):c.8080C>T (p.Arg2694Cys)
|
rs540443650
|
0.00004
|
NM_001367624.2(ZNF469):c.81G>A (p.Pro27=)
|
rs534464702
|
0.00004
|
NM_001368894.2(PAX6):c.1074+9G>A
|
rs376883598
|
0.00004
|
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)
|
rs202154006
|
0.00004
|
NM_001920.4(DCN):c.-296C>T
|
rs540013218
|
0.00004
|
NM_001920.5(DCN):c.*220G>C
|
rs886049890
|
0.00004
|
NM_001920.5(DCN):c.879C>T (p.Tyr293=)
|
rs144307891
|
0.00004
|
NM_001920.5(DCN):c.944C>A (p.Pro315His)
|
rs777270608
|
0.00004
|
NM_002353.2(TACSTD2):c.-241C>G
|
rs942445556
|
0.00004
|
NM_002353.3(TACSTD2):c.827G>A (p.Gly276Asp)
|
rs769179472
|
0.00004
|
NM_002353.3(TACSTD2):c.8G>C (p.Arg3Pro)
|
rs1041904445
|
0.00004
|
NM_007035.4(KERA):c.835C>T (p.Arg279Ter)
|
rs386833986
|
0.00004
|
NM_012293.3(PXDN):c.1329C>T (p.Val443=)
|
rs550694319
|
0.00004
|
NM_012293.3(PXDN):c.1498T>C (p.Tyr500His)
|
rs368890003
|
0.00004
|
NM_012293.3(PXDN):c.1680+6C>T
|
rs930569592
|
0.00004
|
NM_012293.3(PXDN):c.2313C>T (p.Tyr771=)
|
rs370841716
|
0.00004
|
NM_012293.3(PXDN):c.3644C>T (p.Pro1215Leu)
|
rs748447804
|
0.00004
|
NM_012293.3(PXDN):c.3660G>A (p.Glu1220=)
|
rs368223046
|
0.00004
|
NM_012293.3(PXDN):c.4342G>A (p.Val1448Met)
|
rs577701184
|
0.00004
|
NM_013319.3(UBIAD1):c.*1565G>A
|
rs1028565043
|
0.00004
|
NM_013319.3(UBIAD1):c.*2201C>A
|
rs897434247
|
0.00004
|
NM_013319.3(UBIAD1):c.*465_*466del
|
rs777958656
|
0.00004
|
NM_013319.3(UBIAD1):c.370C>A (p.Arg124=)
|
rs748615089
|
0.00004
|
NM_013319.3(UBIAD1):c.417C>T (p.Tyr139=)
|
rs377764711
|
0.00004
|
NM_014588.6(VSX1):c.*169G>A
|
rs1437204062
|
0.00004
|
NM_014588.6(VSX1):c.*64G>T
|
rs908641940
|
0.00004
|
NM_014588.6(VSX1):c.452A>G (p.Asn151Ser)
|
rs201716527
|
0.00004
|
NM_014588.6(VSX1):c.628-13T>C
|
rs775616468
|
0.00004
|
NM_015040.4(PIKFYVE):c.4567G>A (p.Val1523Ile)
|
rs368783060
|
0.00004
|
NM_015040.4(PIKFYVE):c.64A>C (p.Thr22Pro)
|
rs373802805
|
0.00004
|
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg)
|
rs183142477
|
0.00004
|
NM_019040.5(ELP4):c.*3207T>C
|
rs1010978990
|
0.00004
|
NM_021615.5(CHST6):c.*1295T>C
|
rs886052311
|
0.00004
|
NM_021615.5(CHST6):c.*139A>G
|
rs149297341
|
0.00004
|
NM_021615.5(CHST6):c.*2652C>T
|
rs548748758
|
0.00004
|
NM_021615.5(CHST6):c.*3490T>C
|
rs886052301
|
0.00004
|
NM_021615.5(CHST6):c.*3811A>C
|
rs776294697
|
0.00004
|
NM_021615.5(CHST6):c.*588T>G
|
rs886052316
|
0.00004
|
NM_021615.5(CHST6):c.*818G>A
|
rs999743468
|
0.00004
|
NM_021615.5(CHST6):c.115G>C (p.Ala39Pro)
|
rs760172031
|
0.00004
|
NM_033004.4(NLRP1):c.3228C>T (p.Asp1076=)
|
rs139890811
|
0.00004
|
NM_033004.4(NLRP1):c.3338C>T (p.Thr1113Met)
|
rs761505501
|
0.00004
|
NM_153427.2(PITX2):c.-1092G>A
|
rs754809224
|
0.00004
|
NM_153427.2(PITX2):c.-920C>T
|
rs779178803
|
0.00004
|
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln)
|
rs372681751
|
0.00004
|
NM_198252.3(GSN):c.1096G>A (p.Val366Met)
|
rs375323203
|
0.00004
|
NM_198252.3(GSN):c.1416+17G>A
|
rs747631468
|
0.00004
|
NM_198252.3(GSN):c.1444G>A (p.Ala482Thr)
|
rs375902120
|
0.00004
|
NM_198252.3(GSN):c.1576C>T (p.Arg526Trp)
|
rs1220983184
|
0.00004
|
NM_198252.3(GSN):c.2045C>T (p.Thr682Met)
|
rs142854368
|
0.00004
|
NM_198252.3(GSN):c.2065C>T (p.Arg689Trp)
|
rs148360076
|
0.00004
|
NM_198252.3(GSN):c.513+1G>A
|
rs138677601
|
0.00004
|
NM_198252.3(GSN):c.754-8C>T
|
rs757725237
|
0.00004
|
NM_198252.3(GSN):c.7G>T (p.Val3Leu)
|
rs138068754
|
0.00004
|
NM_198252.3(GSN):c.886+10A>G
|
rs768148669
|
0.00004
|
NM_207352.4(CYP4V2):c.*172T>C
|
rs1043961395
|
0.00004
|
NM_207352.4(CYP4V2):c.*2017T>C
|
rs886059295
|
0.00004
|
NM_207352.4(CYP4V2):c.*2281A>G
|
rs759670605
|
0.00004
|
NM_207352.4(CYP4V2):c.*2622A>T
|
rs561265305
|
0.00004
|
NM_207352.4(CYP4V2):c.163C>A (p.Arg55Ser)
|
rs760001831
|
0.00004
|
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp)
|
rs199476185
|
0.00004
|
NM_207352.4(CYP4V2):c.662G>A (p.Arg221His)
|
rs763083895
|
0.00004
|
NM_000104.4(CYP1B1):c.*105C>T
|
rs756083290
|
0.00003
|
NM_000104.4(CYP1B1):c.*1561A>C
|
rs34474461
|
0.00003
|
NM_000104.4(CYP1B1):c.1406G>A (p.Arg469Gln)
|
rs747324108
|
0.00003
|
NM_000104.4(CYP1B1):c.8C>A (p.Thr3Asn)
|
rs372685881
|
0.00003
|
NM_000325.6(PITX2):c.*107A>C
|
rs752553102
|
0.00003
|
NM_000325.6(PITX2):c.*264A>C
|
rs886059006
|
0.00003
|
NM_000358.3(TGFBI):c.371G>A (p.Arg124His)
|
rs121909211
|
0.00003
|
NM_000358.3(TGFBI):c.393G>T (p.Glu131Asp)
|
rs199604416
|
0.00003
|
NM_001174089.2(SLC4A11):c.1049T>C (p.Ile350Thr)
|
rs370322948
|
0.00003
|
NM_001174089.2(SLC4A11):c.1159G>A (p.Gly387Arg)
|
rs532348574
|
0.00003
|
NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His)
|
rs751797233
|
0.00003
|
NM_001174089.2(SLC4A11):c.2213C>T (p.Thr738Met)
|
rs267607066
|
0.00003
|
NM_001174089.2(SLC4A11):c.470A>G (p.Asp157Gly)
|
rs748474270
|
0.00003
|
NM_001367624.2(ZNF469):c.10420C>T (p.Arg3474Trp)
|
rs1394199246
|
0.00003
|
NM_001367624.2(ZNF469):c.11809G>A (p.Gly3937Arg)
|
rs886052421
|
0.00003
|
NM_001367624.2(ZNF469):c.1875C>A (p.Leu625=)
|
rs886052392
|
0.00003
|
NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr)
|
rs886052393
|
0.00003
|
NM_001367624.2(ZNF469):c.4778C>T (p.Ser1593Leu)
|
rs768864900
|
0.00003
|
NM_001367624.2(ZNF469):c.8430G>A (p.Ala2810=)
|
rs574024256
|
0.00003
|
NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser)
|
rs745468033
|
0.00003
|
NM_001367624.2(ZNF469):c.9784G>T (p.Ala3262Ser)
|
rs886052418
|
0.00003
|
NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln)
|
rs200015827
|
0.00003
|
NM_001368894.2(PAX6):c.276A>G (p.Val92=)
|
rs750195797
|
0.00003
|
NM_001368894.2(PAX6):c.405A>G (p.Ser135=)
|
rs760926425
|
0.00003
|
NM_001368894.2(PAX6):c.537G>C (p.Gly179=)
|
rs374226064
|
0.00003
|
NM_001368894.2(PAX6):c.807+6G>A
|
rs375134684
|
0.00003
|
NM_001368894.2(PAX6):c.959-20G>A
|
rs751109356
|
0.00003
|
NM_001368894.2(PAX6):c.959-7C>T
|
rs750093295
|
0.00003
|
NM_001395010.1(DAB2IP):c.2759C>T (p.Pro920Leu)
|
rs765361316
|
0.00003
|
NM_001920.5(DCN):c.210G>A (p.Leu70=)
|
rs200516355
|
0.00003
|
NM_002353.3(TACSTD2):c.*656T>A
|
rs181590097
|
0.00003
|
NM_002353.3(TACSTD2):c.175G>A (p.Gly59Ser)
|
rs777212159
|
0.00003
|
NM_012293.3(PXDN):c.1018+10G>A
|
rs972175216
|
0.00003
|
NM_012293.3(PXDN):c.1811C>T (p.Ser604Leu)
|
rs575642508
|
0.00003
|
NM_012293.3(PXDN):c.701C>T (p.Ala234Val)
|
rs376902965
|
0.00003
|
NM_013319.3(UBIAD1):c.*1495T>C
|
rs886045080
|
0.00003
|
NM_013319.3(UBIAD1):c.*1719A>G
|
rs886045082
|
0.00003
|
NM_013319.3(UBIAD1):c.*997C>T
|
rs886045074
|
0.00003
|
NM_013319.3(UBIAD1):c.230G>A (p.Gly77Asp)
|
rs201583978
|
0.00003
|
NM_014588.6(VSX1):c.496C>T (p.Arg166Trp)
|
rs74315432
|
0.00003
|
NM_015040.4(PIKFYVE):c.*1621A>G
|
rs1046507081
|
0.00003
|
NM_015040.4(PIKFYVE):c.*3100T>G
|
rs539067320
|
0.00003
|
NM_015040.4(PIKFYVE):c.*777A>G
|
rs886055539
|
0.00003
|
NM_015040.4(PIKFYVE):c.1051-10G>T
|
rs769292195
|
0.00003
|
NM_015040.4(PIKFYVE):c.1468+15C>T
|
rs781345811
|
0.00003
|
NM_015040.4(PIKFYVE):c.1711C>T (p.Arg571Cys)
|
rs771948901
|
0.00003
|
NM_015040.4(PIKFYVE):c.1946G>A (p.Arg649Gln)
|
rs377372888
|
0.00003
|
NM_015040.4(PIKFYVE):c.3719+14C>A
|
rs765598840
|
0.00003
|
NM_015040.4(PIKFYVE):c.6243C>T (p.Asp2081=)
|
rs746132026
|
0.00003
|
NM_018699.4(PRDM5):c.650+5G>A
|
rs754469516
|
0.00003
|
NM_019040.5(ELP4):c.*1877A>G
|
rs745626044
|
0.00003
|
NM_019040.5(ELP4):c.*3303G>A
|
rs994285025
|
0.00003
|
NM_019040.5(ELP4):c.*3504T>C
|
rs886048187
|
0.00003
|
NM_019040.5(ELP4):c.*3920C>T
|
rs886048191
|
0.00003
|
NM_021615.5(CHST6):c.*164G>T
|
rs901651645
|
0.00003
|
NM_021615.5(CHST6):c.*2836T>C
|
rs886052303
|
0.00003
|
NM_021615.5(CHST6):c.*2962G>A
|
rs557307672
|
0.00003
|
NM_021615.5(CHST6):c.*3602C>T
|
rs576234551
|
0.00003
|
NM_021615.5(CHST6):c.*687C>A
|
rs886052315
|
0.00003
|
NM_021615.5(CHST6):c.*751C>T
|
rs780235353
|
0.00003
|
NM_021615.5(CHST6):c.1113C>G (p.Ala371=)
|
rs763307252
|
0.00003
|
NM_021615.5(CHST6):c.304T>G (p.Cys102Gly)
|
rs121917822
|
0.00003
|
NM_021615.5(CHST6):c.392C>T (p.Ser131Leu)
|
rs375059043
|
0.00003
|
NM_021615.5(CHST6):c.789T>C (p.Phe263=)
|
rs200988630
|
0.00003
|
NM_198252.3(GSN):c.-9-2026C>T
|
rs1048849212
|
0.00003
|
NM_198252.3(GSN):c.1103G>A (p.Arg368Gln)
|
rs781764487
|
0.00003
|
NM_198252.3(GSN):c.1204G>A (p.Glu402Lys)
|
rs368079865
|
0.00003
|
NM_198252.3(GSN):c.1417A>G (p.Ser473Gly)
|
rs370997492
|
0.00003
|
NM_198252.3(GSN):c.1443C>T (p.Pro481=)
|
rs200156774
|
0.00003
|
NM_198252.3(GSN):c.1553G>A (p.Arg518His)
|
rs769400986
|
0.00003
|
NM_198252.3(GSN):c.1932G>A (p.Thr644=)
|
rs759980004
|
0.00003
|
NM_198252.3(GSN):c.235A>C (p.Ile79Leu)
|
rs766055612
|
0.00003
|
NM_198252.3(GSN):c.546T>G (p.Asn182Lys)
|
rs752698745
|
0.00003
|
NM_198252.3(GSN):c.753+1G>A
|
rs369830648
|
0.00003
|
NM_207352.4(CYP4V2):c.*2139G>A
|
rs546961288
|
0.00003
|
NM_207352.4(CYP4V2):c.1423A>G (p.Met475Val)
|
rs762821992
|
0.00003
|
NM_207352.4(CYP4V2):c.626T>C (p.Ile209Thr)
|
rs376640607
|
0.00003
|
NM_000104.4(CYP1B1):c.*1173del
|
rs3834137
|
0.00002
|
NM_000104.4(CYP1B1):c.*1611G>A
|
rs572531079
|
0.00002
|
NM_000104.4(CYP1B1):c.-1-10C>T
|
rs780269033
|
0.00002
|
NM_000325.6(PITX2):c.*572T>C
|
rs886059003
|
0.00002
|
NM_000358.3(TGFBI):c.1167C>T (p.Ser389=)
|
rs369100201
|
0.00002
|
NM_000358.3(TGFBI):c.1194C>T (p.Ala398=)
|
rs555953015
|
0.00002
|
NM_000358.3(TGFBI):c.1406G>A (p.Arg469His)
|
rs376761086
|
0.00002
|
NM_001174089.2(SLC4A11):c.1258G>A (p.Ala420Thr)
|
rs376120280
|
0.00002
|
NM_001174089.2(SLC4A11):c.1421C>T (p.Thr474Met)
|
rs768052263
|
0.00002
|
NM_001174089.2(SLC4A11):c.2558+12T>A
|
rs770217478
|
0.00002
|
NM_001174089.2(SLC4A11):c.44-7C>T
|
rs779027436
|
0.00002
|
NM_001174089.2(SLC4A11):c.611C>T (p.Thr204Ile)
|
rs1224728455
|
0.00002
|
NM_001174089.2(SLC4A11):c.746C>T (p.Ala249Val)
|
rs771135532
|
0.00002
|
NM_001365792.1(DAB1):c.1075G>A (p.Gly359Arg)
|
rs746363033
|
0.00002
|
NM_001367624.2(ZNF469):c.*499A>G
|
rs537339757
|
0.00002
|
NM_001367624.2(ZNF469):c.*792A>G
|
rs886052424
|
0.00002
|
NM_001367624.2(ZNF469):c.10805C>T (p.Pro3602Leu)
|
rs764764326
|
0.00002
|
NM_001367624.2(ZNF469):c.3119A>C (p.Lys1040Thr)
|
rs273585619
|
0.00002
|
NM_001367624.2(ZNF469):c.3918G>A (p.Gly1306=)
|
rs768501538
|
0.00002
|
NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu)
|
rs781096189
|
0.00002
|
NM_001367624.2(ZNF469):c.5010C>A (p.Ala1670=)
|
rs766852564
|
0.00002
|
NM_001367624.2(ZNF469):c.9019G>A (p.Asp3007Asn)
|
rs886881362
|
0.00002
|
NM_001367624.2(ZNF469):c.9320C>T (p.Pro3107Leu)
|
rs1208219883
|
0.00002
|
NM_001367624.2(ZNF469):c.9705G>A (p.Ala3235=)
|
rs757816736
|
0.00002
|
NM_001367624.2(ZNF469):c.99G>A (p.Pro33=)
|
rs273585631
|
0.00002
|
NM_001368894.2(PAX6):c.-316-8C>G
|
rs566281941
|
0.00002
|
NM_001368894.2(PAX6):c.-430G>C
|
rs886048207
|
0.00002
|
NM_001368894.2(PAX6):c.1131G>A (p.Ser377=)
|
rs369447790
|
0.00002
|
NM_001368894.2(PAX6):c.538A>T (p.Thr180Ser)
|
rs141021880
|
0.00002
|
NM_001368894.2(PAX6):c.717G>A (p.Leu239=)
|
rs766564648
|
0.00002
|
NM_001368894.2(PAX6):c.956C>T (p.Pro319Leu)
|
rs759150602
|
0.00002
|
NM_001386094.1(AGBL1):c.985A>T (p.Thr329Ser)
|
rs745458688
|
0.00002
|
NM_001466.4(FZD2):c.1238G>A (p.Arg413Gln)
|
rs758351214
|
0.00002
|
NM_001920.5(DCN):c.1066G>A (p.Gly356Arg)
|
rs775666283
|
0.00002
|
NM_001920.5(DCN):c.632A>G (p.Asn211Ser)
|
rs758510607
|
0.00002
|
NM_005993.5(TBCD):c.3126G>A (p.Pro1042=)
|
rs369672739
|
0.00002
|
NM_012293.3(PXDN):c.1075G>A (p.Val359Ile)
|
rs769037467
|
0.00002
|
NM_012293.3(PXDN):c.2592C>T (p.Pro864=)
|
rs552146038
|
0.00002
|
NM_012293.3(PXDN):c.3832G>A (p.Ala1278Thr)
|
rs567182921
|
0.00002
|
NM_014588.5(VSX1):c.-175C>G
|
rs752774218
|
0.00002
|
NM_015040.4(PIKFYVE):c.*2495A>G
|
rs548954146
|
0.00002
|
NM_015040.4(PIKFYVE):c.*2738A>G
|
rs553290241
|
0.00002
|
NM_015040.4(PIKFYVE):c.1206A>G (p.Thr402=)
|
rs745795722
|
0.00002
|
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys)
|
rs761027478
|
0.00002
|
NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys)
|
rs387907111
|
0.00002
|
NM_019040.5(ELP4):c.*1714C>G
|
rs180780893
|
0.00002
|
NM_021615.5(CHST6):c.*1031A>G
|
rs886052312
|
0.00002
|
NM_021615.5(CHST6):c.*1377G>A
|
rs140231054
|
0.00002
|
NM_021615.5(CHST6):c.*13T>C
|
rs750212631
|
0.00002
|
NM_021615.5(CHST6):c.*1407C>G
|
rs117273298
|
0.00002
|
NM_021615.5(CHST6):c.*3240A>G
|
rs1022400619
|
0.00002
|
NM_021615.5(CHST6):c.*4970T>C
|
rs886052295
|
0.00002
|
NM_021615.5(CHST6):c.1167C>T (p.Thr389=)
|
rs746231082
|
0.00002
|
NM_021615.5(CHST6):c.539A>G (p.Asn180Ser)
|
rs773164615
|
0.00002
|
NM_021615.5(CHST6):c.621G>A (p.Val207=)
|
rs775009315
|
0.00002
|
NM_021615.5(CHST6):c.892C>T (p.Gln298Ter)
|
rs886052321
|
0.00002
|
NM_021615.5(CHST6):c.897C>G (p.Leu299=)
|
rs749119225
|
0.00002
|
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg)
|
rs758657734
|
0.00002
|
NM_153427.2(PITX2):c.-1422C>A
|
rs1423855887
|
0.00002
|
NM_153427.3(PITX2):c.-53G>A
|
rs1388707841
|
0.00002
|
NM_198252.3(GSN):c.1870A>G (p.Lys624Glu)
|
rs756053203
|
0.00002
|
NM_198252.3(GSN):c.2040C>T (p.Ile680=)
|
rs758909359
|
0.00002
|
NM_198252.3(GSN):c.228G>A (p.Ala76=)
|
rs761824852
|
0.00002
|
NM_198252.3(GSN):c.723G>A (p.Ala241=)
|
rs377624593
|
0.00002
|
NM_198252.3(GSN):c.886+12A>C
|
rs201952723
|
0.00002
|
NM_207352.4(CYP4V2):c.*1721A>G
|
rs925222658
|
0.00002
|
NM_207352.4(CYP4V2):c.*2748A>G
|
rs111816209
|
0.00002
|
NM_207352.4(CYP4V2):c.-22C>G
|
rs894067959
|
0.00002
|
NM_207352.4(CYP4V2):c.1344T>C (p.Asn448=)
|
rs72646292
|
0.00002
|
NM_000104.4(CYP1B1):c.*1079C>G
|
rs886055994
|
0.00001
|
NM_000104.4(CYP1B1):c.*1601C>T
|
rs886055992
|
0.00001
|
NM_000104.4(CYP1B1):c.*1730A>G
|
rs886055991
|
0.00001
|
NM_000104.4(CYP1B1):c.*1895C>T
|
rs886055990
|
0.00001
|
NM_000104.4(CYP1B1):c.*1910A>G
|
rs1405956907
|
0.00001
|
NM_000104.4(CYP1B1):c.*1956A>G
|
rs1235898139
|
0.00001
|
NM_000104.4(CYP1B1):c.*2151T>C
|
rs886055989
|
0.00001
|
NM_000104.4(CYP1B1):c.*2498T>C
|
rs572548236
|
0.00001
|
NM_000104.4(CYP1B1):c.*3086T>A
|
rs969140341
|
0.00001
|
NM_000104.4(CYP1B1):c.*43C>T
|
rs371252753
|
0.00001
|
NM_000104.4(CYP1B1):c.*661T>A
|
rs886055995
|
0.00001
|
NM_000104.4(CYP1B1):c.1202A>G (p.His401Arg)
|
rs886055997
|
0.00001
|
NM_000104.4(CYP1B1):c.1474G>A (p.Asp492Asn)
|
rs776848093
|
0.00001
|
NM_000104.4(CYP1B1):c.24C>T (p.Asn8=)
|
rs142995558
|
0.00001
|
NM_000104.4(CYP1B1):c.277C>T (p.Pro93Ser)
|
rs1156997078
|
0.00001
|
NM_000104.4(CYP1B1):c.381C>T (p.Ser127=)
|
rs780857657
|
0.00001
|
NM_000104.4(CYP1B1):c.498C>G (p.Leu166=)
|
rs775055418
|
0.00001
|
NM_000104.4(CYP1B1):c.763C>T (p.Arg255Cys)
|
rs886055998
|
0.00001
|
NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser)
|
rs777678299
|
0.00001
|
NM_000264.5(PTCH1):c.2695A>G (p.Ile899Val)
|
rs765371196
|
0.00001
|
NM_000325.6(PITX2):c.*611A>G
|
rs886059002
|
0.00001
|
NM_000325.6(PITX2):c.282G>T (p.Arg94=)
|
rs768386257
|
0.00001
|
NM_000325.6(PITX2):c.412-7C>T
|
rs762349019
|
0.00001
|
NM_000358.3(TGFBI):c.*355A>G
|
rs1458386992
|
0.00001
|
NM_000358.3(TGFBI):c.*395C>A
|
rs558406262
|
0.00001
|
NM_000358.3(TGFBI):c.*534G>T
|
rs1284276296
|
0.00001
|
NM_000358.3(TGFBI):c.1454G>A (p.Arg485Lys)
|
rs539008520
|
0.00001
|
NM_000358.3(TGFBI):c.273C>T (p.Val91=)
|
rs759976271
|
0.00001
|
NM_000358.3(TGFBI):c.321C>T (p.Tyr107=)
|
rs761942644
|
0.00001
|
NM_000358.3(TGFBI):c.334G>A (p.Val112Ile)
|
rs766343295
|
0.00001
|
NM_000358.3(TGFBI):c.348C>A (p.Thr116=)
|
rs886059923
|
0.00001
|
NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys)
|
rs121909210
|
0.00001
|
NM_000358.3(TGFBI):c.387G>C (p.Arg129Ser)
|
rs765026368
|
0.00001
|
NM_000358.3(TGFBI):c.459+14C>T
|
rs200273594
|
0.00001
|
NM_000358.3(TGFBI):c.969G>A (p.Ala323=)
|
rs533421485
|
0.00001
|
NM_000494.4(COL17A1):c.2062C>T (p.Arg688Ter)
|
rs768415627
|
0.00001
|
NM_000494.4(COL17A1):c.3156C>T (p.Gly1052=)
|
rs760714959
|
0.00001
|
NM_000494.4(COL17A1):c.3419-10A>T
|
rs1448663798
|
0.00001
|
NM_000494.4(COL17A1):c.460C>T (p.Arg154Ter)
|
rs1564685400
|
0.00001
|
NM_000966.6(RARG):c.245C>T (p.Pro82Leu)
|
rs769476878
|
0.00001
|
NM_001083962.2(TCF4):c.550-22780G>A
|
rs962581774
|
0.00001
|
NM_001143981.2(CHRDL1):c.229C>T (p.Arg77Ter)
|
rs775515705
|
0.00001
|
NM_001161546.2(PROB1):c.671G>A (p.Gly224Asp)
|
rs1114167279
|
0.00001
|
NM_001174089.2(SLC4A11):c.1169-13C>T
|
rs373231267
|
0.00001
|
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg)
|
rs1233324021
|
0.00001
|
NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg)
|
rs1233324021
|
0.00001
|
NM_001174089.2(SLC4A11):c.1347G>A (p.Leu449=)
|
rs766711908
|
0.00001
|
NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu)
|
rs121909388
|
0.00001
|
NM_001174089.2(SLC4A11):c.1489+8C>T
|
rs760670114
|
0.00001
|
NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter)
|
rs121909390
|
0.00001
|
NM_001174089.2(SLC4A11):c.1857G>A (p.Lys619=)
|
rs1284744149
|
0.00001
|
NM_001174089.2(SLC4A11):c.1960A>G (p.Met654Val)
|
rs762735932
|
0.00001
|
NM_001174089.2(SLC4A11):c.2355C>T (p.Leu785=)
|
rs755312854
|
0.00001
|
NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys)
|
rs121909391
|
0.00001
|
NM_001174089.2(SLC4A11):c.2558G>A (p.Arg853His)
|
rs121909392
|
0.00001
|
NM_001174089.2(SLC4A11):c.649C>T (p.Arg217Cys)
|
rs762942751
|
0.00001
|
NM_001174089.2(SLC4A11):c.89G>T (p.Ser30Ile)
|
rs749897720
|
0.00001
|
NM_001367624.2(ZNF469):c.*649C>G
|
rs561472955
|
0.00001
|
NM_001367624.2(ZNF469):c.*664C>T
|
rs886052423
|
0.00001
|
NM_001367624.2(ZNF469):c.1048G>A (p.Asp350Asn)
|
rs568820656
|
0.00001
|
NM_001367624.2(ZNF469):c.10573G>A (p.Glu3525Lys)
|
rs273585628
|
0.00001
|
NM_001367624.2(ZNF469):c.10707C>A (p.Cys3569Ter)
|
rs760186083
|
0.00001
|
NM_001367624.2(ZNF469):c.10811C>T (p.Pro3604Leu)
|
rs957402222
|
0.00001
|
NM_001367624.2(ZNF469):c.10927C>T (p.Leu3643=)
|
rs273585637
|
0.00001
|
NM_001367624.2(ZNF469):c.11699C>T (p.Pro3900Leu)
|
rs273585630
|
0.00001
|
NM_001367624.2(ZNF469):c.1268C>T (p.Pro423Leu)
|
rs1214168989
|
0.00001
|
NM_001367624.2(ZNF469):c.1547G>C (p.Gly516Ala)
|
rs753160761
|
0.00001
|
NM_001367624.2(ZNF469):c.1799C>T (p.Thr600Met)
|
rs749374208
|
0.00001
|
NM_001367624.2(ZNF469):c.1856G>T (p.Ser619Ile)
|
rs1187845779
|
0.00001
|
NM_001367624.2(ZNF469):c.2361C>G (p.His787Gln)
|
rs886052395
|
0.00001
|
NM_001367624.2(ZNF469):c.2652C>G (p.Pro884=)
|
rs767431034
|
0.00001
|
NM_001367624.2(ZNF469):c.2952C>T (p.Asp984=)
|
rs886052398
|
0.00001
|
NM_001367624.2(ZNF469):c.2953G>A (p.Gly985Ser)
|
rs886052399
|
0.00001
|
NM_001367624.2(ZNF469):c.3183C>T (p.Arg1061=)
|
rs756703220
|
0.00001
|
NM_001367624.2(ZNF469):c.337G>A (p.Glu113Lys)
|
rs281865144
|
0.00001
|
NM_001367624.2(ZNF469):c.3482C>A (p.Ser1161Tyr)
|
rs903409672
|
0.00001
|
NM_001367624.2(ZNF469):c.3485G>T (p.Arg1162Leu)
|
rs886052402
|
0.00001
|
NM_001367624.2(ZNF469):c.376A>G (p.Ser126Gly)
|
rs886052389
|
0.00001
|
NM_001367624.2(ZNF469):c.5114C>T (p.Thr1705Ile)
|
rs768667107
|
0.00001
|
NM_001367624.2(ZNF469):c.5297G>A (p.Arg1766Gln)
|
rs571207087
|
0.00001
|
NM_001367624.2(ZNF469):c.6091G>A (p.Glu2031Lys)
|
rs273585622
|
0.00001
|
NM_001367624.2(ZNF469):c.6480C>T (p.Pro2160=)
|
rs370190101
|
0.00001
|
NM_001367624.2(ZNF469):c.6665T>C (p.Leu2222Pro)
|
rs78213929
|
0.00001
|
NM_001367624.2(ZNF469):c.7111G>A (p.Gly2371Arg)
|
rs886052408
|
0.00001
|
NM_001367624.2(ZNF469):c.7159C>T (p.Arg2387Cys)
|
rs886052409
|
0.00001
|
NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met)
|
rs553909579
|
0.00001
|
NM_001367624.2(ZNF469):c.7720C>T (p.His2574Tyr)
|
rs886052410
|
0.00001
|
NM_001367624.2(ZNF469):c.8856C>T (p.Asp2952=)
|
rs766581620
|
0.00001
|
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met)
|
rs273585626
|
0.00001
|
NM_001367624.2(ZNF469):c.9174G>A (p.Leu3058=)
|
rs886052416
|
0.00001
|
NM_001367624.2(ZNF469):c.9279G>T (p.Glu3093Asp)
|
rs886052417
|
0.00001
|
NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp)
|
rs1292941352
|
0.00001
|
NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser)
|
rs887755283
|
0.00001
|
NM_001368894.2(PAX6):c.*207G>A
|
rs886048199
|
0.00001
|
NM_001368894.2(PAX6):c.*226T>C
|
rs753595935
|
0.00001
|
NM_001368894.2(PAX6):c.*272T>G
|
rs934715799
|
0.00001
|
NM_001368894.2(PAX6):c.*626G>C
|
rs1250874661
|
0.00001
|
NM_001368894.2(PAX6):c.-59G>T
|
rs886048204
|
0.00001
|
NM_001368894.2(PAX6):c.1020C>T (p.Tyr340=)
|
rs786205467
|
0.00001
|
NM_001368894.2(PAX6):c.1043G>C (p.Ser348Thr)
|
rs749992296
|
0.00001
|
NM_001368894.2(PAX6):c.1068T>G (p.Pro356=)
|
rs1185901527
|
0.00001
|
NM_001368894.2(PAX6):c.1098C>T (p.Ser366=)
|
rs1949682214
|
0.00001
|
NM_001368894.2(PAX6):c.11-10C>G
|
rs762637284
|
0.00001
|
NM_001368894.2(PAX6):c.1121C>T (p.Thr374Ile)
|
rs1361659182
|
0.00001
|
NM_001368894.2(PAX6):c.1130C>T (p.Ser377Leu)
|
rs1411880763
|
0.00001
|
NM_001368894.2(PAX6):c.1142G>A (p.Arg381Gln)
|
rs780115865
|
0.00001
|
NM_001368894.2(PAX6):c.1164C>T (p.Pro388=)
|
rs764134540
|
0.00001
|
NM_001368894.2(PAX6):c.1194G>A (p.Gln398=)
|
rs766842413
|
0.00001
|
NM_001368894.2(PAX6):c.1242T>G (p.Gly414=)
|
rs372956285
|
0.00001
|
NM_001368894.2(PAX6):c.1282A>G (p.Met428Val)
|
rs541260494
|
0.00001
|
NM_001368894.2(PAX6):c.141+1G>A
|
rs1554985714
|
0.00001
|
NM_001368894.2(PAX6):c.184-4G>T
|
rs761362173
|
0.00001
|
NM_001368894.2(PAX6):c.184-9C>G
|
rs764872492
|
0.00001
|
NM_001368894.2(PAX6):c.243A>G (p.Arg81=)
|
rs771974160
|
0.00001
|
NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys)
|
rs759557055
|
0.00001
|
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln)
|
rs769095184
|
0.00001
|
NM_001368894.2(PAX6):c.501C>T (p.Thr167=)
|
rs201200280
|
0.00001
|
NM_001368894.2(PAX6):c.525T>A (p.Gly175=)
|
rs1315078444
|
0.00001
|
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met)
|
rs1159095794
|
0.00001
|
NM_001368894.2(PAX6):c.561G>A (p.Thr187=)
|
rs771257263
|
0.00001
|
NM_001368894.2(PAX6):c.622G>A (p.Gly208Arg)
|
rs374396492
|
0.00001
|
NM_001368894.2(PAX6):c.658C>T (p.Leu220=)
|
rs778895282
|
0.00001
|
NM_001368894.2(PAX6):c.702G>A (p.Glu234=)
|
rs755018027
|
0.00001
|
NM_001368894.2(PAX6):c.768A>G (p.Arg256=)
|
rs757591036
|
0.00001
|
NM_001368894.2(PAX6):c.972A>T (p.Thr324=)
|
rs779631884
|
0.00001
|
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln)
|
rs75572362
|
0.00001
|
NM_001920.5(DCN):c.*351T>C
|
rs1201458812
|
0.00001
|
NM_001920.5(DCN):c.*566T>A
|
rs1449263175
|
0.00001
|
NM_001920.5(DCN):c.560A>G (p.Lys187Arg)
|
rs555705830
|
0.00001
|
NM_002353.3(TACSTD2):c.*59A>C
|
rs886046456
|
0.00001
|
NM_002353.3(TACSTD2):c.*6C>T
|
rs749221434
|
0.00001
|
NM_002353.3(TACSTD2):c.352C>T (p.Gln118Ter)
|
rs80358223
|
0.00001
|
NM_007035.4(KERA):c.391A>G (p.Asn131Asp)
|
rs386833985
|
0.00001
|
NM_007035.4(KERA):c.644C>A (p.Thr215Lys)
|
rs121917862
|
0.00001
|
NM_007035.4(KERA):c.937C>T (p.Arg313Ter)
|
rs121917863
|
0.00001
|
NM_012293.3(PXDN):c.1021C>T (p.Arg341Ter)
|
rs369535598
|
0.00001
|
NM_012293.3(PXDN):c.1650C>T (p.Gly550=)
|
rs753678349
|
0.00001
|
NM_012293.3(PXDN):c.1657G>A (p.Glu553Lys)
|
rs755097189
|
0.00001
|
NM_012293.3(PXDN):c.1885G>A (p.Val629Met)
|
rs770134392
|
0.00001
|
NM_012293.3(PXDN):c.1A>G (p.Met1Val)
|
rs1387582423
|
0.00001
|
NM_012293.3(PXDN):c.2180G>A (p.Arg727Gln)
|
rs748238090
|
0.00001
|
NM_012293.3(PXDN):c.2369A>T (p.His790Leu)
|
rs1682956712
|
0.00001
|
NM_012293.3(PXDN):c.2638C>T (p.Arg880Cys)
|
rs587777572
|
0.00001
|
NM_012293.3(PXDN):c.3292C>T (p.Leu1098Phe)
|
rs757055936
|
0.00001
|
NM_012293.3(PXDN):c.3642T>C (p.Phe1214=)
|
rs544242132
|
0.00001
|
NM_012293.3(PXDN):c.3768G>C (p.Val1256=)
|
rs746169929
|
0.00001
|
NM_012293.3(PXDN):c.639G>A (p.Ser213=)
|
rs778985833
|
0.00001
|
NM_012293.3(PXDN):c.750C>T (p.Ser250=)
|
rs762530703
|
0.00001
|
NM_013319.3(UBIAD1):c.*1167C>T
|
rs886045076
|
0.00001
|
NM_013319.3(UBIAD1):c.*1228A>G
|
rs917463872
|
0.00001
|
NM_013319.3(UBIAD1):c.*1426C>T
|
rs886045077
|
0.00001
|
NM_013319.3(UBIAD1):c.*1427T>C
|
rs886045078
|
0.00001
|
NM_013319.3(UBIAD1):c.*1459T>A
|
rs886045079
|
0.00001
|
NM_013319.3(UBIAD1):c.*1494A>G
|
rs868102858
|
0.00001
|
NM_013319.3(UBIAD1):c.*1570G>A
|
rs955630598
|
0.00001
|
NM_013319.3(UBIAD1):c.*170T>G
|
rs1399081788
|
0.00001
|
NM_013319.3(UBIAD1):c.*2091G>A
|
rs1235983002
|
0.00001
|
NM_013319.3(UBIAD1):c.*2115C>G
|
rs886045085
|
0.00001
|
NM_013319.3(UBIAD1):c.*2187G>A
|
rs886045086
|
0.00001
|
NM_013319.3(UBIAD1):c.*2213C>T
|
rs760259916
|
0.00001
|
NM_013319.3(UBIAD1):c.*619A>G
|
rs886045072
|
0.00001
|
NM_013319.3(UBIAD1):c.*847A>T
|
rs886045073
|
0.00001
|
NM_013319.3(UBIAD1):c.-4T>C
|
rs770112579
|
0.00001
|
NM_013319.3(UBIAD1):c.116A>G (p.Gln39Arg)
|
rs761963387
|
0.00001
|
NM_013319.3(UBIAD1):c.530G>A (p.Gly177Glu)
|
rs397514669
|
0.00001
|
NM_013319.3(UBIAD1):c.60A>C (p.Lys20Asn)
|
rs764215999
|
0.00001
|
NM_013319.3(UBIAD1):c.718G>A (p.Asp240Asn)
|
rs371811409
|
0.00001
|
NM_013319.3(UBIAD1):c.740C>T (p.Thr247Met)
|
rs371649705
|
0.00001
|
NM_014588.5(VSX1):c.-271G>T
|
rs886056560
|
0.00001
|
NM_014588.6(VSX1):c.*159G>A
|
rs747213856
|
0.00001
|
NM_014588.6(VSX1):c.*749C>T
|
rs191546716
|
0.00001
|
NM_014588.6(VSX1):c.*89T>C
|
rs886056555
|
0.00001
|
NM_014588.6(VSX1):c.378G>A (p.Pro126=)
|
rs993182248
|
0.00001
|
NM_014588.6(VSX1):c.387C>G (p.Leu129=)
|
rs757690043
|
0.00001
|
NM_014588.6(VSX1):c.485G>A (p.Arg162Lys)
|
rs371672721
|
0.00001
|
NM_014588.6(VSX1):c.557C>T (p.Ala186Val)
|
rs767762959
|
0.00001
|
NM_014588.6(VSX1):c.768C>T (p.Ala256=)
|
rs1457505437
|
0.00001
|
NM_014588.6(VSX1):c.83C>T (p.Pro28Leu)
|
rs370818926
|
0.00001
|
NM_014889.4(PITRM1):c.2420A>G (p.Lys807Arg)
|
rs869025266
|
0.00001
|
NM_015040.4(PIKFYVE):c.*1624A>T
|
rs1435627063
|
0.00001
|
NM_015040.4(PIKFYVE):c.*1826A>G
|
rs886055545
|
0.00001
|
NM_015040.4(PIKFYVE):c.*1938G>C
|
rs140749141
|
0.00001
|
NM_015040.4(PIKFYVE):c.*2238A>G
|
rs1403001936
|
0.00001
|
NM_015040.4(PIKFYVE):c.*240C>T
|
rs567925149
|
0.00001
|
NM_015040.4(PIKFYVE):c.*2861C>G
|
rs1164636943
|
0.00001
|
NM_015040.4(PIKFYVE):c.*3074A>C
|
rs749165043
|
0.00001
|
NM_015040.4(PIKFYVE):c.*3329G>T
|
rs778853940
|
0.00001
|
NM_015040.4(PIKFYVE):c.*492T>A
|
rs1454811692
|
0.00001
|
NM_015040.4(PIKFYVE):c.*519G>A
|
rs551218307
|
0.00001
|
NM_015040.4(PIKFYVE):c.*814T>G
|
rs1265056669
|
0.00001
|
NM_015040.4(PIKFYVE):c.1320+4C>T
|
rs1693797581
|
0.00001
|
NM_015040.4(PIKFYVE):c.1621C>A (p.Pro541Thr)
|
rs886055531
|
0.00001
|
NM_015040.4(PIKFYVE):c.1746C>T (p.Phe582=)
|
rs1259685306
|
0.00001
|
NM_015040.4(PIKFYVE):c.2164A>G (p.Thr722Ala)
|
rs566701537
|
0.00001
|
NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter)
|
rs992128517
|
0.00001
|
NM_015040.4(PIKFYVE):c.2458+10C>G
|
rs751563395
|
0.00001
|
NM_015040.4(PIKFYVE):c.2733C>T (p.Ile911=)
|
rs755202351
|
0.00001
|
NM_015040.4(PIKFYVE):c.307C>T (p.Arg103Cys)
|
rs778101021
|
0.00001
|
NM_015040.4(PIKFYVE):c.308G>A (p.Arg103His)
|
rs891262232
|
0.00001
|
NM_015040.4(PIKFYVE):c.3308A>G (p.Lys1103Arg)
|
rs121918336
|
0.00001
|
NM_015040.4(PIKFYVE):c.3511G>A (p.Ala1171Thr)
|
rs748235174
|
0.00001
|
NM_015040.4(PIKFYVE):c.37T>C (p.Ser13Pro)
|
rs749616889
|
0.00001
|
NM_015040.4(PIKFYVE):c.4559G>T (p.Arg1520Ile)
|
rs1698191316
|
0.00001
|
NM_015040.4(PIKFYVE):c.4811-9T>C
|
rs148173811
|
0.00001
|
NM_015040.4(PIKFYVE):c.4932-13A>C
|
rs186801100
|
0.00001
|
NM_015040.4(PIKFYVE):c.5088C>T (p.Ala1696=)
|
rs753209769
|
0.00001
|
NM_015040.4(PIKFYVE):c.5296C>T (p.Arg1766Cys)
|
rs776997681
|
0.00001
|
NM_015040.4(PIKFYVE):c.5716-11C>A
|
rs886055535
|
0.00001
|
NM_015040.4(PIKFYVE):c.6165A>C (p.Gly2055=)
|
rs748688653
|
0.00001
|
NM_018699.3(PRDM5):c.-133T>C
|
rs886059046
|
0.00001
|
NM_018699.4(PRDM5):c.1379A>G (p.Lys460Arg)
|
rs371617787
|
0.00001
|
NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter)
|
rs387907110
|
0.00001
|
NM_018699.4(PRDM5):c.650+7A>G
|
rs751182540
|
0.00001
|
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter)
|
rs1064794819
|
0.00001
|
NM_018699.4(PRDM5):c.974del (p.Cys325fs)
|
rs766853150
|
0.00001
|
NM_019040.5(ELP4):c.*1404G>C
|
rs748381549
|
0.00001
|
NM_019040.5(ELP4):c.*3859G>A
|
rs886048190
|
0.00001
|
NM_019040.5(ELP4):c.*4023C>A
|
rs886048194
|
0.00001
|
NM_019040.5(ELP4):c.*4889G>A
|
rs886048196
|
0.00001
|
NM_019040.5(ELP4):c.*5357A>G
|
rs886048197
|
0.00001
|
NM_019040.5(ELP4):c.*5471T>C
|
rs886048198
|
0.00001
|
NM_021615.5(CHST6):c.*1324C>T
|
rs886052310
|
0.00001
|
NM_021615.5(CHST6):c.*1652G>A
|
rs1178270623
|
0.00001
|
NM_021615.5(CHST6):c.*1836G>A
|
rs1441816484
|
0.00001
|
NM_021615.5(CHST6):c.*2050G>A
|
rs1037087194
|
0.00001
|
NM_021615.5(CHST6):c.*2770T>G
|
rs1597468602
|
0.00001
|
NM_021615.5(CHST6):c.*4003T>C
|
rs942544702
|
0.00001
|
NM_021615.5(CHST6):c.*4325A>G
|
rs1454981481
|
0.00001
|
NM_021615.5(CHST6):c.*4497G>A
|
rs886052296
|
0.00001
|
NM_021615.5(CHST6):c.*4589C>T
|
rs756919146
|
0.00001
|
NM_021615.5(CHST6):c.*5465C>T
|
rs541989548
|
0.00001
|
NM_021615.5(CHST6):c.*794A>C
|
rs886052314
|
0.00001
|
NM_021615.5(CHST6):c.*984G>C
|
rs886052313
|
0.00001
|
NM_021615.5(CHST6):c.-154T>A
|
rs886052325
|
0.00001
|
NM_021615.5(CHST6):c.-21C>A
|
rs886052322
|
0.00001
|
NM_021615.5(CHST6):c.1099C>G (p.Gln367Glu)
|
rs751005101
|
0.00001
|
NM_021615.5(CHST6):c.1101G>A (p.Gln367=)
|
rs1182017136
|
0.00001
|
NM_021615.5(CHST6):c.172C>T (p.Gln58Ter)
|
rs756036451
|
0.00001
|
NM_021615.5(CHST6):c.329A>G (p.Tyr110Cys)
|
rs72547544
|
0.00001
|
NM_021615.5(CHST6):c.518T>C (p.Leu173Pro)
|
rs763075517
|
0.00001
|
NM_021615.5(CHST6):c.708C>T (p.Asp236=)
|
rs779128434
|
0.00001
|
NM_021615.5(CHST6):c.827T>C (p.Leu276Pro)
|
rs121917824
|
0.00001
|
NM_021615.5(CHST6):c.857C>T (p.Ala286Val)
|
rs751949248
|
0.00001
|
NM_057088.3(KRT3):c.1525G>A (p.Glu509Lys)
|
rs57872071
|
0.00001
|
NM_138959.3(VANGL1):c.41C>T (p.Ser14Leu)
|
rs1202230056
|
0.00001
|
NM_153427.2(PITX2):c.-1411C>T
|
rs1256005721
|
0.00001
|
NM_153427.2(PITX2):c.-1491G>A
|
rs888167422
|
0.00001
|
NM_153427.2(PITX2):c.-483C>T
|
rs1729689311
|
0.00001
|
NM_153427.2(PITX2):c.-966A>G
|
rs1049702206
|
0.00001
|
NM_170679.3(SKP1):c.456+19T>G
|
rs1114167278
|
0.00001
|
NM_198252.3(GSN):c.*194G>A
|
rs886063412
|
0.00001
|
NM_198252.3(GSN):c.-9-2021G>A
|
rs886063405
|
0.00001
|
NM_198252.3(GSN):c.1009C>T (p.Leu337=)
|
rs528161256
|
0.00001
|
NM_198252.3(GSN):c.123C>T (p.Gly41=)
|
rs774617795
|
0.00001
|
NM_198252.3(GSN):c.1441C>A (p.Pro481Thr)
|
rs1468193571
|
0.00001
|
NM_198252.3(GSN):c.1506C>T (p.Arg502=)
|
rs199681748
|
0.00001
|
NM_198252.3(GSN):c.1507G>A (p.Glu503Lys)
|
rs998869731
|
0.00001
|
NM_198252.3(GSN):c.163G>A (p.Gly55Arg)
|
rs556563870
|
0.00001
|
NM_198252.3(GSN):c.1651G>A (p.Ala551Thr)
|
rs777955781
|
0.00001
|
NM_198252.3(GSN):c.1690A>G (p.Lys564Glu)
|
rs368207411
|
0.00001
|
NM_198252.3(GSN):c.1762G>T (p.Asp588Tyr)
|
rs757684181
|
0.00001
|
NM_198252.3(GSN):c.1763-10C>T
|
rs750829888
|
0.00001
|
NM_198252.3(GSN):c.1874T>C (p.Ile625Thr)
|
rs777767455
|
0.00001
|
NM_198252.3(GSN):c.1880G>A (p.Arg627His)
|
rs896776181
|
0.00001
|
NM_198252.3(GSN):c.1942A>G (p.Met648Val)
|
rs886063406
|
0.00001
|
NM_198252.3(GSN):c.2041G>A (p.Glu681Lys)
|
rs545428148
|
0.00001
|
NM_198252.3(GSN):c.2060G>A (p.Arg687Gln)
|
rs770023727
|
0.00001
|
NM_198252.3(GSN):c.322G>A (p.Gly108Ser)
|
rs367933536
|
0.00001
|
NM_198252.3(GSN):c.393C>T (p.Asn131=)
|
rs186654124
|
0.00001
|
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)
|
rs121909715
|
0.00001
|
NM_198252.3(GSN):c.513C>T (p.Asn171=)
|
rs765499763
|
0.00001
|
NM_198252.3(GSN):c.616C>T (p.Arg206Ter)
|
rs376060588
|
0.00001
|
NM_198252.3(GSN):c.692C>T (p.Ala231Val)
|
rs754268709
|
0.00001
|
NM_198252.3(GSN):c.776T>C (p.Met259Thr)
|
rs770943559
|
0.00001
|
NM_198252.3(GSN):c.781G>A (p.Val261Ile)
|
rs745588757
|
0.00001
|
NM_198252.3(GSN):c.811G>A (p.Ala271Thr)
|
rs761334580
|
0.00001
|
NM_198252.3(GSN):c.989C>T (p.Pro330Leu)
|
rs1157815026
|
0.00001
|
NM_207352.4(CYP4V2):c.*1417T>A
|
rs886059292
|
0.00001
|
NM_207352.4(CYP4V2):c.*1756T>C
|
rs1046943032
|
0.00001
|
NM_207352.4(CYP4V2):c.*2166C>G
|
rs192436436
|
0.00001
|
NM_207352.4(CYP4V2):c.*2708A>G
|
rs1463658668
|
0.00001
|
NM_207352.4(CYP4V2):c.*282A>C
|
rs994768815
|
0.00001
|
NM_207352.4(CYP4V2):c.302C>T (p.Ala101Val)
|
rs143272248
|
0.00001
|
NM_207352.4(CYP4V2):c.661C>T (p.Arg221Cys)
|
rs745471184
|
0.00001
|
NM_207352.4(CYP4V2):c.736C>G (p.Leu246Val)
|
rs531538384
|
0.00001
|
NM_207352.4(CYP4V2):c.772C>A (p.Leu258Ile)
|
rs761190623
|
0.00001
|
46;XX;t(X;22)(q13;q13)
|
|
|
46;XY;t(18;20)(q21.1;p11.23)dn
|
|
|
46;XY;t(6;20)(p12;q13.1)dn
|
|
|
NC_000002.11:g.(?_1748008)_(1748227_?)dup
|
|
|
NC_000004.12:g.69391612A>G
|
|
|
NC_000007.14:g.129126742_129126748del
|
|
|
NC_000007.14:g.142581165C>G
|
|
|
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
|
|
|
NC_000011.10:g.(?_31664397)_(31794829_?)del
|
|
|
NC_000011.10:g.(?_31789914)_(31790880_?)del
|
|
|
NC_000011.10:g.(?_31789914)_(31794829_?)del
|
|
|
NC_000011.10:g.(?_31789934)_(31806411_?)del
|
|
|
NC_000011.10:g.(?_31794610)_(31794829_?)del
|
|
|
NC_000011.9:g.(?_31284590)_(31824402_?)del
|
|
|
NC_000011.9:g.(?_31284590)_(31832374_?)del
|
|
|
NC_000011.9:g.(?_31284590)_(32456911_?)del
|
|
|
NC_000011.9:g.(?_31625295)_(31822424_?)del
|
|
|
NC_000011.9:g.(?_31804921)_(31812428_?)del
|
|
|
NC_000011.9:g.(?_31804921)_(31816356_?)del
|
|
|
NC_000011.9:g.(?_31804921)_(31816377_?)del
|
|
|
NC_000011.9:g.(?_31814966)_(31816356_?)del
|
|
|
NC_000011.9:g.(?_31815560)_(31824402_?)del
|
|
|
NC_000011.9:g.(?_31822233)_(31823148_?)del
|
|
|
NC_000011.9:g.(?_31824326)_(31832375_?)del
|
|
|
NC_000014.9:g.22007907C>T
|
|
|
NC_000014.9:g.22007908A>C
|
|
|
NC_000016.9:g.(?_74748068)_(75513746_?)del
|
|
|
NG_011716.2:g.54765TGC[51_?]
|
|
|
NM_000104.4(CYP1B1):c.*1450T>C
|
rs886055993
|
|
NM_000104.4(CYP1B1):c.*1544G>A
|
rs1682376790
|
|
NM_000104.4(CYP1B1):c.*1766G>A
|
rs1682371906
|
|
NM_000104.4(CYP1B1):c.*1908G>A
|
rs34544682
|
|
NM_000104.4(CYP1B1):c.*1961G>C
|
rs767403314
|
|
NM_000104.4(CYP1B1):c.*210dup
|
rs4646431
|
|
NM_000104.4(CYP1B1):c.*2289G>T
|
rs1682355981
|
|
NM_000104.4(CYP1B1):c.*2304A>C
|
rs909259463
|
|
NM_000104.4(CYP1B1):c.*2314dup
|
rs561615550
|
|
NM_000104.4(CYP1B1):c.*2660T>A
|
rs886055987
|
|
NM_000104.4(CYP1B1):c.*3064A>T
|
rs1682335231
|
|
NM_000104.4(CYP1B1):c.*3078G>A
|
rs886055986
|
|
NM_000104.4(CYP1B1):c.*493G>A
|
rs886055996
|
|
NM_000104.4(CYP1B1):c.*688T>C
|
rs1682396717
|
|
NM_000104.4(CYP1B1):c.*864T>C
|
rs987237179
|
|
NM_000104.4(CYP1B1):c.*867dup
|
rs200949126
|
|
NM_000104.4(CYP1B1):c.*879del
|
rs4646433
|
|
NM_000104.4(CYP1B1):c.*945C>T
|
rs1327335898
|
|
NM_000104.4(CYP1B1):c.*972T>C
|
rs1682390062
|
|
NM_000104.4(CYP1B1):c.*980A>C
|
rs34521017
|
|
NM_000104.4(CYP1B1):c.-197C>G
|
rs886056001
|
|
NM_000104.4(CYP1B1):c.-360G>C
|
rs886056002
|
|
NM_000104.4(CYP1B1):c.-97dup
|
rs11379588
|
|
NM_000104.4(CYP1B1):c.1063_1075del (p.Arg355fs)
|
rs1064792896
|
|
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs)
|
rs587778873
|
|
NM_000104.4(CYP1B1):c.1345G>T (p.Asp449Tyr)
|
rs149049138
|
|
NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=)
|
rs146770394
|
|
NM_000104.4(CYP1B1):c.1593T>G (p.Ser531Arg)
|
rs901961745
|
|
NM_000104.4(CYP1B1):c.371G>A (p.Arg124His)
|
rs1177366364
|
|
NM_000104.4(CYP1B1):c.644G>C (p.Ser215Thr)
|
rs72549384
|
|
NM_000104.4(CYP1B1):c.712G>T (p.Gly238Cys)
|
rs1682493984
|
|
NM_000104.4(CYP1B1):c.809A>G (p.Asn270Ser)
|
rs1381317977
|
|
NM_000223.4(KRT12):c.1148_1159del (p.Gln383_Val387delinsLeu)
|
rs2143257204
|
|
NM_000223.4(KRT12):c.1151T>C (p.Leu384Pro)
|
rs2143257255
|
|
NM_000223.4(KRT12):c.1181T>C (p.Leu394Pro)
|
|
|
NM_000223.4(KRT12):c.1285T>G (p.Tyr429Asp)
|
rs58162394
|
|
NM_000223.4(KRT12):c.386T>C (p.Met129Thr)
|
rs28936695
|
|
NM_000223.4(KRT12):c.395T>C (p.Leu132Pro)
|
rs886038212
|
|
NM_000223.4(KRT12):c.403A>G (p.Arg135Gly)
|
rs58410481
|
|
NM_000223.4(KRT12):c.404G>C (p.Arg135Thr)
|
rs57218384
|
|
NM_000223.4(KRT12):c.404G>T (p.Arg135Ile)
|
rs57218384
|
|
NM_000223.4(KRT12):c.419T>G (p.Leu140Arg)
|
rs58918655
|
|
NM_000223.4(KRT12):c.427G>C (p.Val143Leu)
|
rs58343600
|
|
NM_000223.4(KRT12):c.523G>A (p.Asp175Asn)
|
|
|
NM_000223.4(KRT12):c.988G>T (p.Glu330Ter)
|
|
|
NM_000280.4(PAX6):c.358delG
|
rs886042838
|
|
NM_000325.6(PITX2):c.*119T>A
|
rs765040142
|
|
NM_000325.6(PITX2):c.*173G>A
|
rs1728830475
|
|
NM_000325.6(PITX2):c.*340A>G
|
rs551209662
|
|
NM_000325.6(PITX2):c.*370G>C
|
rs886059005
|
|
NM_000325.6(PITX2):c.*373GTT[1]
|
rs886059004
|
|
NM_000325.6(PITX2):c.*696A>C
|
rs1728803615
|
|
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro)
|
rs201628949
|
|
NM_000325.6(PITX2):c.412-11del
|
rs886059007
|
|
NM_000325.6(PITX2):c.695G>A (p.Ser232Asn)
|
rs746908680
|
|
NM_000358.2(TGFBI):c.[1637C>A;1652C>A]
|
|
|
NM_000358.3(TGFBI):c.*21A>G
|
rs886059928
|
|
NM_000358.3(TGFBI):c.*551A>G
|
rs886059929
|
|
NM_000358.3(TGFBI):c.1193C>A (p.Ala398Asp)
|
rs986231295
|
|
NM_000358.3(TGFBI):c.1265-11C>A
|
rs145873615
|
|
NM_000358.3(TGFBI):c.1265-11C>T
|
rs145873615
|
|
NM_000358.3(TGFBI):c.1284T>A (p.Asp428Glu)
|
rs886059927
|
|
NM_000358.3(TGFBI):c.1405C>T (p.Arg469Cys)
|
rs759370852
|
|
NM_000358.3(TGFBI):c.1471del (p.Leu491fs)
|
rs1561613851
|
|
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr)
|
rs121909212
|
|
NM_000358.3(TGFBI):c.1501C>T (p.Pro501Ser)
|
rs121909212
|
|
NM_000358.3(TGFBI):c.1504A>G (p.Met502Val)
|
rs188677757
|
|
NM_000358.3(TGFBI):c.1517_1518insCAAGGG (p.Met506delinsIleLysGly)
|
|
|
NM_000358.3(TGFBI):c.1526T>G (p.Leu509Arg)
|
rs121909216
|
|
NM_000358.3(TGFBI):c.1584G>A (p.Thr528=)
|
rs552261238
|
|
NM_000358.3(TGFBI):c.1611C>T (p.Tyr537=)
|
rs1751639731
|
|
NM_000358.3(TGFBI):c.1612A>C (p.Thr538Pro)
|
rs2126915354
|
|
NM_000358.3(TGFBI):c.1618_1620del (p.Phe540del)
|
rs2126915359
|
|
NM_000358.3(TGFBI):c.1619T>C (p.Phe540Ser)
|
rs121909214
|
|
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp)
|
rs121909208
|
|
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln)
|
rs121909209
|
|
NM_000358.3(TGFBI):c.1772C>A (p.Ser591Tyr)
|
rs1751703312
|
|
NM_000358.3(TGFBI):c.1855A>G (p.Met619Val)
|
rs2126917684
|
|
NM_000358.3(TGFBI):c.1864A>C (p.Asn622His)
|
rs2126917690
|
|
NM_000358.3(TGFBI):c.1868G>A (p.Gly623Asp)
|
rs121909215
|
|
NM_000358.3(TGFBI):c.1949C>T (p.Ala650Val)
|
rs188333040
|
|
NM_000358.3(TGFBI):c.2001T>C (p.Ser667=)
|
rs760016493
|
|
NM_000358.3(TGFBI):c.2040G>C (p.Arg680Ser)
|
rs762051168
|
|
NM_000358.3(TGFBI):c.283A>G (p.Lys95Glu)
|
rs886059922
|
|
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser)
|
rs121909210
|
|
NM_000358.3(TGFBI):c.371G>T (p.Arg124Leu)
|
rs121909211
|
|
NM_000358.3(TGFBI):c.535C>T (p.Arg179Ter)
|
rs886059924
|
|
NM_000358.3(TGFBI):c.675C>A (p.Thr225=)
|
rs886059925
|
|
NM_000358.3(TGFBI):c.721A>G (p.Asn241Asp)
|
rs886059926
|
|
NM_000358.3(TGFBI):c.820C>T (p.Gln274Ter)
|
rs1561611210
|
|
NM_000368.5(TSC1):c.622A>G (p.Ser208Gly)
|
|
|
NM_000393.5(COL5A2):c.4364G>A (p.Gly1455Glu)
|
|
|
NM_000494.4(COL17A1):c.2002+2T>G
|
rs1274167395
|
|
NM_000494.4(COL17A1):c.2011G>A (p.Gly671Ser)
|
|
|
NM_000494.4(COL17A1):c.2816C>T (p.Thr939Ile)
|
rs797045142
|
|
NM_000494.4(COL17A1):c.2897-2A>C
|
|
|
NM_000494.4(COL17A1):c.3071-5G>A
|
rs370589324
|
|
NM_000494.4(COL17A1):c.4142C>T (p.Ser1381Leu)
|
rs2086242885
|
|
NM_000494.4(COL17A1):c.979+27T>A
|
rs805704
|
|
NM_000691.5(ALDH3A1):c.703G>A (p.Gly235Arg)
|
|
|
NM_000875.5(IGF1R):c.1447G>A (p.Gly483Arg)
|
|
|
NM_001033053.2(NLRP1):c.2358-?_2528+?del
|
|
|
NM_001039753.4(EML6):c.2528G>T (p.Trp843Leu)
|
|
|
NM_001042492.3(NF1):c.5257G>C (p.Val1753Leu)
|
rs148540952
|
|
NM_001083962.2(TCF4):c.-21+2T>A
|
rs1568471128
|
|
NM_001083962.2(TCF4):c.1118dup (p.Pro373_Asn374insTer)
|
rs1600404795
|
|
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter)
|
rs121909122
|
|
NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp)
|
|
|
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)
|
rs121909123
|
|
NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser)
|
rs755332116
|
|
NM_001083962.2(TCF4):c.306_307del (p.Ser102fs)
|
|
|
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter)
|
rs878853149
|
|
NM_001083962.2(TCF4):c.696del (p.Gly232_Met233insTer)
|
rs1568622225
|
|
NM_001083962.2(TCF4):c.710_711insT (p.Tyr238fs)
|
|
|
NM_001083962.2(TCF4):c.775_776dup (p.Glu261fs)
|
|
|
NM_001083962.2(TCF4):c.785G>A (p.Arg262His)
|
rs1555796645
|
|
NM_001143981.2(CHRDL1):c.102_103del (p.Glu34fs)
|
rs398122852
|
|
NM_001143981.2(CHRDL1):c.1123C>T (p.Gln375Ter)
|
rs2148409748
|
|
NM_001143981.2(CHRDL1):c.1156+1G>T
|
rs2148409694
|
|
NM_001143981.2(CHRDL1):c.207+1G>A
|
rs2148509595
|
|
NM_001143981.2(CHRDL1):c.207G>C (p.Glu69Asp)
|
rs2148509597
|
|
NM_001143981.2(CHRDL1):c.301+2T>G
|
rs587776868
|
|
NM_001143981.2(CHRDL1):c.436T>G (p.Cys146Gly)
|
rs2148465558
|
|
NM_001143981.2(CHRDL1):c.483dup (p.Lys162fs)
|
rs2148463846
|
|
NM_001143981.2(CHRDL1):c.520dup (p.Ser174fs)
|
rs1057516043
|
|
NM_001143981.2(CHRDL1):c.652C>T (p.Arg218Ter)
|
rs387906714
|
|
NM_001143981.2(CHRDL1):c.782G>T (p.Cys261Phe)
|
rs387906713
|
|
NM_001143981.2(CHRDL1):c.807_808del (p.His270fs)
|
rs863225435
|
|
NM_001143981.2(CHRDL1):c.872G>A (p.Cys291Tyr)
|
rs2148418732
|
|
NM_001143981.2(CHRDL1):c.872del (p.Cys291fs)
|
rs398122851
|
|
NM_001143981.2(CHRDL1):c.94+1G>A
|
rs2090111362
|
|
NM_001143981.2(CHRDL1):c.968G>T (p.Cys323Phe)
|
rs2148418567
|
|
NM_001143981.2(CHRDL1):c.976A>T (p.Lys326Ter)
|
rs2148418538
|
|
NM_001174089.2(SLC4A11):c.1110C>A (p.Cys370Ter)
|
rs1363770105
|
|
NM_001174089.2(SLC4A11):c.1147G>A (p.Glu383Lys)
|
rs267607065
|
|
NM_001174089.2(SLC4A11):c.1343G>A (p.Gly448Asp)
|
rs121909389
|
|
NM_001174089.2(SLC4A11):c.1391G>T (p.Ser464Ile)
|
|
|
NM_001174089.2(SLC4A11):c.1418C>G (p.Ser473Trp)
|
|
|
NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met)
|
rs755379986
|
|
NM_001174089.2(SLC4A11):c.1742+8G>A
|
rs2067679229
|
|
NM_001174089.2(SLC4A11):c.1923C>T (p.Ala641=)
|
rs886056632
|
|
NM_001174089.2(SLC4A11):c.2011G>A (p.Glu671Lys)
|
rs751718398
|
|
NM_001174089.2(SLC4A11):c.2018+1G>A
|
rs2067654837
|
|
NM_001174089.2(SLC4A11):c.2019-16_2019-6delinsGGCCGGCCGG
|
rs869320617
|
|
NM_001174089.2(SLC4A11):c.2058C>T (p.Leu686=)
|
rs141079217
|
|
NM_001174089.2(SLC4A11):c.2078G>A (p.Gly693Glu)
|
rs267607064
|
|
NM_001174089.2(SLC4A11):c.20G>T (p.Arg7Leu)
|
rs2068078358
|
|
NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter)
|
rs772409032
|
|
NM_001174089.2(SLC4A11):c.2216G>A (p.Arg739Gln)
|
rs121909387
|
|
NM_001174089.2(SLC4A11):c.2216G>T (p.Arg739Leu)
|
rs121909387
|
|
NM_001174089.2(SLC4A11):c.2286G>T (p.Trp762Cys)
|
rs2067626997
|
|
NM_001174089.2(SLC4A11):c.2365G>A (p.Val789Met)
|
rs145325200
|
|
NM_001174089.2(SLC4A11):c.2366dup (p.Ala790fs)
|
|
|
NM_001174089.2(SLC4A11):c.2450C>T (p.Thr817Met)
|
|
|
NM_001174089.2(SLC4A11):c.2554A>G (p.Ile852Val)
|
rs886056631
|
|
NM_001174089.2(SLC4A11):c.291+126G>A
|
rs6133022
|
|
NM_001174089.2(SLC4A11):c.291+3G>A
|
rs2067904587
|
|
NM_001174089.2(SLC4A11):c.305_308del (p.Lys102fs)
|
rs869320720
|
|
NM_001174089.2(SLC4A11):c.322A>G (p.Ile108Val)
|
rs773078769
|
|
NM_001174089.2(SLC4A11):c.379G>A (p.Glu127Lys)
|
rs1482631297
|
|
NM_001174089.2(SLC4A11):c.409C>T (p.Arg137Trp)
|
rs773524307
|
|
NM_001174089.2(SLC4A11):c.425_433delinsC (p.Arg142fs)
|
rs797045107
|
|
NM_001174089.2(SLC4A11):c.44-24G>C
|
rs747573446
|
|
NM_001174089.2(SLC4A11):c.515G>A (p.Arg172Gln)
|
rs149016022
|
|
NM_001174089.2(SLC4A11):c.51_52del (p.Pro18fs)
|
rs1600618680
|
|
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe)
|
rs2122588507
|
|
NM_001174089.2(SLC4A11):c.691G>A (p.Val231Ile)
|
rs886056633
|
|
NM_001174096.2(ZEB1):c.1093dup (p.Ile365fs)
|
|
|
NM_001174096.2(ZEB1):c.1351C>T (p.Gln451Ter)
|
rs2139794959
|
|
NM_001174096.2(ZEB1):c.1579dup (p.Val527fs)
|
rs766305306
|
|
NM_001174096.2(ZEB1):c.1586_1595del (p.Asp529fs)
|
|
|
NM_001174096.2(ZEB1):c.1923G>T (p.Gln641His)
|
|
|
NM_001174096.2(ZEB1):c.1A>C (p.Met1Leu)
|
|
|
NM_001174096.2(ZEB1):c.2252C>A (p.Ser751Ter)
|
|
|
NM_001174096.2(ZEB1):c.2919_2920del (p.Gly974fs)
|
rs1592143384
|
|
NM_001174096.2(ZEB1):c.504del (p.Gln169fs)
|
rs2069829602
|
|
NM_001174096.2(ZEB1):c.623dup (p.Tyr208Ter)
|
rs2139506946
|
|
NM_001174096.2(ZEB1):c.688-1G>A
|
rs2139622959
|
|
NM_001174096.2(ZEB1):c.692_693del (p.His231fs)
|
|
|
NM_001174096.2(ZEB1):c.831del (p.Ser279fs)
|
|
|
NM_001174096.2(ZEB1):c.976C>T (p.Arg326Ter)
|
rs1057518956
|
|
NM_001202.6(BMP4):c.1118G>A (p.Cys373Tyr)
|
|
|
NM_001282426.2(PIK3CG):c.711del (p.Asp238fs)
|
rs767360862
|
|
NM_001303264.2(TSC22D2):c.1702G>T (p.Ala568Ser)
|
|
|
NM_001303461.1(OVOL2):c.-297+886T>C
|
rs869320628
|
|
NM_001303461.1(OVOL2):c.-297+895_-297+916dup
|
rs869320627
|
|
NM_001303461.1(OVOL2):c.-297+949T>C
|
rs869320629
|
|
NM_001304359.2(MUC5AC):c.10301C>T (p.Pro3434Leu)
|
|
|
NM_001304359.2(MUC5AC):c.3601C>T (p.Arg1201Trp)
|
|
|
NM_001304359.2(MUC5AC):c.5459G>A (p.Arg1820Gln)
|
|
|
NM_001320714.2(DOP1B):c.1227_1228del (p.Gln410fs)
|
|
|
NM_001351365.2(NBPF19):c.11302C>G (p.Leu3768Val)
|
|
|
NM_001355281.2(NANOGP8):c.190G>T (p.Asp64Tyr)
|
|
|
NM_001365902.3(NFIX):c.440G>A (p.Gly147Glu)
|
rs1568269273
|
|
NM_001367624.2(ZNF469):c.*1323G>A
|
rs780254370
|
|
NM_001367624.2(ZNF469):c.*1348G>A
|
rs886052428
|
|
NM_001367624.2(ZNF469):c.*491T>C
|
rs557906701
|
|
NM_001367624.2(ZNF469):c.*547G>T
|
rs370886541
|
|
NM_001367624.2(ZNF469):c.*551TCCTCCCTCTGACCACAGGGTCATGCC[3]
|
rs6145934
|
|
NM_001367624.2(ZNF469):c.*618T>G
|
rs3859020
|
|
NM_001367624.2(ZNF469):c.*870del
|
rs35684712
|
|
NM_001367624.2(ZNF469):c.*879T>C
|
rs886052426
|
|
NM_001367624.2(ZNF469):c.*932A>G
|
rs886052427
|
|
NM_001367624.2(ZNF469):c.10100G>A (p.Cys3367Tyr)
|
rs387907062
|
|
NM_001367624.2(ZNF469):c.10106G>C (p.Arg3369Pro)
|
|
|
NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu)
|
rs281165933
|
|
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr)
|
rs199528724
|
|
NM_001367624.2(ZNF469):c.10325G>T (p.Arg3442Met)
|
rs199528724
|
|
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser)
|
rs56236932
|
|
NM_001367624.2(ZNF469):c.10328G>T (p.Gly3443Val)
|
rs140056980
|
|
NM_001367624.2(ZNF469):c.10331G>T (p.Gly3444Val)
|
rs530393871
|
|
NM_001367624.2(ZNF469):c.10332del (p.Arg3445fs)
|
rs764470052
|
|
NM_001367624.2(ZNF469):c.10373C>G (p.Ala3458Gly)
|
rs1429918039
|
|
NM_001367624.2(ZNF469):c.10572C>T (p.Pro3524=)
|
rs763317477
|
|
NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=)
|
rs78022634
|
|
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro)
|
rs11648572
|
|
NM_001367624.2(ZNF469):c.10744G>C (p.Ala3582Pro)
|
|
|
NM_001367624.2(ZNF469):c.1081del (p.Ala361fs)
|
rs1905872842
|
|
NM_001367624.2(ZNF469):c.11016G>T (p.Lys3672Asn)
|
rs967698954
|
|
NM_001367624.2(ZNF469):c.11109G>T (p.Val3703=)
|
rs886052419
|
|
NM_001367624.2(ZNF469):c.11262C>T (p.Ser3754=)
|
rs769834740
|
|
NM_001367624.2(ZNF469):c.11406C>A (p.His3802Gln)
|
rs141042464
|
|
NM_001367624.2(ZNF469):c.11536C>G (p.Arg3846Gly)
|
rs886052420
|
|
NM_001367624.2(ZNF469):c.11714C>G (p.Pro3905Arg)
|
rs529322092
|
|
NM_001367624.2(ZNF469):c.11821A>C (p.Thr3941Pro)
|
rs1555520642
|
|
NM_001367624.2(ZNF469):c.11822C>T (p.Thr3941Ile)
|
rs766057875
|
|
NM_001367624.2(ZNF469):c.142G>A (p.Ala48Thr)
|
rs886052388
|
|
NM_001367624.2(ZNF469):c.1444del (p.Leu482fs)
|
rs1484586294
|
|
NM_001367624.2(ZNF469):c.1528G>A (p.Gly510Ser)
|
rs755555951
|
|
NM_001367624.2(ZNF469):c.1586del (p.Gly529fs)
|
rs1905923050
|
|
NM_001367624.2(ZNF469):c.1829C>T (p.Pro610Leu)
|
|
|
NM_001367624.2(ZNF469):c.1932G>C (p.Thr644=)
|
rs539996728
|
|
NM_001367624.2(ZNF469):c.1982A>G (p.Tyr661Cys)
|
rs886052394
|
|
NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg)
|
rs571184307
|
|
NM_001367624.2(ZNF469):c.2150del (p.Phe717fs)
|
|
|
NM_001367624.2(ZNF469):c.2478G>T (p.Pro826=)
|
rs273585634
|
|
NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp)
|
rs1555518955
|
|
NM_001367624.2(ZNF469):c.2625_2645del (p.Pro876_Gly882del)
|
rs113102840
|
|
NM_001367624.2(ZNF469):c.2643C>G (p.Ser881=)
|
rs273585635
|
|
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val)
|
rs145186655
|
|
NM_001367624.2(ZNF469):c.2699C>G (p.Pro900Arg)
|
rs273585618
|
|
NM_001367624.2(ZNF469):c.2810A>T (p.Asp937Val)
|
rs550198026
|
|
NM_001367624.2(ZNF469):c.2898GTCGGG[1] (p.967SG[1])
|
rs281865147
|
|
NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del)
|
rs775423936
|
|
NM_001367624.2(ZNF469):c.2914G>A (p.Gly972Ser)
|
|
|
NM_001367624.2(ZNF469):c.2929G>C (p.Gly977Arg)
|
rs770061832
|
|
NM_001367624.2(ZNF469):c.2948ACG[1] (p.Asp984del)
|
rs886052397
|
|
NM_001367624.2(ZNF469):c.2986C>A (p.Arg996Ser)
|
rs886052400
|
|
NM_001367624.2(ZNF469):c.310G>A (p.Ala104Thr)
|
|
|
NM_001367624.2(ZNF469):c.3255G>C (p.Glu1085Asp)
|
rs886052401
|
|
NM_001367624.2(ZNF469):c.3307C>T (p.Gln1103Ter)
|
rs1906110243
|
|
NM_001367624.2(ZNF469):c.3320G>A (p.Arg1107Gln)
|
rs281865148
|
|
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu)
|
rs568046708
|
|
NM_001367624.2(ZNF469):c.3611A>G (p.Gln1204Arg)
|
rs1597208940
|
|
NM_001367624.2(ZNF469):c.3714C>T (p.Ser1238=)
|
rs572061351
|
|
NM_001367624.2(ZNF469):c.3776G>A (p.Ser1259Asn)
|
rs886052403
|
|
NM_001367624.2(ZNF469):c.4112dup (p.Pro1373fs)
|
|
|
NM_001367624.2(ZNF469):c.4195C>T (p.His1399Tyr)
|
rs886052404
|
|
NM_001367624.2(ZNF469):c.4258G>T (p.Glu1420Ter)
|
rs387907063
|
|
NM_001367624.2(ZNF469):c.4435G>C (p.Gly1479Arg)
|
|
|
NM_001367624.2(ZNF469):c.4447G>A (p.Ala1483Thr)
|
rs273585620
|
|
NM_001367624.2(ZNF469):c.4447G>T (p.Ala1483Ser)
|
rs273585620
|
|
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del)
|
rs555544144
|
|
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)
|
rs532620482
|
|
NM_001367624.2(ZNF469):c.4910G>C (p.Arg1637Pro)
|
rs273585621
|
|
NM_001367624.2(ZNF469):c.5150C>G (p.Pro1717Arg)
|
rs544832628
|
|
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=)
|
rs184374078
|
|
NM_001367624.2(ZNF469):c.5402del (p.Val1801fs)
|
|
|
NM_001367624.2(ZNF469):c.5488G>T (p.Ala1830Ser)
|
rs778548266
|
|
NM_001367624.2(ZNF469):c.5613_5622del (p.Arg1871fs)
|
|
|
NM_001367624.2(ZNF469):c.5681A>T (p.Gln1894Leu)
|
rs281865150
|
|
NM_001367624.2(ZNF469):c.5789A>G (p.Gln1930Arg)
|
rs2142308428
|
|
NM_001367624.2(ZNF469):c.5862C>G (p.Pro1954=)
|
rs201666199
|
|
NM_001367624.2(ZNF469):c.5862C>T (p.Pro1954=)
|
rs201666199
|
|
NM_001367624.2(ZNF469):c.5912C>T (p.Ala1971Val)
|
rs886052406
|
|
NM_001367624.2(ZNF469):c.6027del (p.Gly2011fs)
|
rs1597210953
|
|
NM_001367624.2(ZNF469):c.6029G>A (p.Gly2010Glu)
|
rs886052407
|
|
NM_001367624.2(ZNF469):c.6414G>T (p.Ser2138=)
|
rs548774131
|
|
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs)
|
rs886044697
|
|
NM_001367624.2(ZNF469):c.6552G>T (p.Thr2184=)
|
rs12919507
|
|
NM_001367624.2(ZNF469):c.6978CTC[1] (p.Ser2328del)
|
rs1215843229
|
|
NM_001367624.2(ZNF469):c.699C>T (p.Asp233=)
|
rs886052391
|
|
NM_001367624.2(ZNF469):c.713C>T (p.Ala238Val)
|
|
|
NM_001367624.2(ZNF469):c.720G>A (p.Glu240=)
|
rs273585632
|
|
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile)
|
rs886043704
|
|
NM_001367624.2(ZNF469):c.7635C>T (p.Asp2545=)
|
rs781553869
|
|
NM_001367624.2(ZNF469):c.765_770dup (p.254EP[3])
|
rs1905840452
|
|
NM_001367624.2(ZNF469):c.77G>C (p.Ser26Thr)
|
rs273585616
|
|
NM_001367624.2(ZNF469):c.7874_7877dup (p.His2626fs)
|
|
|
NM_001367624.2(ZNF469):c.8003T>C (p.Met2668Thr)
|
rs886052411
|
|
NM_001367624.2(ZNF469):c.8048G>A (p.Gly2683Glu)
|
rs912981227
|
|
NM_001367624.2(ZNF469):c.8112G>C (p.Glu2704Asp)
|
rs773262065
|
|
NM_001367624.2(ZNF469):c.8350C>T (p.Arg2784Ter)
|
rs1172315984
|
|
NM_001367624.2(ZNF469):c.8428del (p.Ala2810fs)
|
rs2142312393
|
|
NM_001367624.2(ZNF469):c.8438C>A (p.Thr2813Asn)
|
rs985304000
|
|
NM_001367624.2(ZNF469):c.8543A>G (p.Asp2848Gly)
|
rs1457868844
|
|
NM_001367624.2(ZNF469):c.8625_8627delinsACG (p.His2876Arg)
|
rs386794006
|
|
NM_001367624.2(ZNF469):c.8642G>A (p.Arg2881His)
|
rs142753357
|
|
NM_001367624.2(ZNF469):c.8642G>T (p.Arg2881Leu)
|
rs142753357
|
|
NM_001367624.2(ZNF469):c.8974A>C (p.Met2992Leu)
|
rs886052414
|
|
NM_001367624.2(ZNF469):c.9024C>T (p.Asp3008=)
|
rs886052415
|
|
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del)
|
rs281865162
|
|
NM_001367624.2(ZNF469):c.9268C>T (p.Arg3090Ter)
|
rs764139968
|
|
NM_001367624.2(ZNF469):c.9368G>A (p.Arg3123His)
|
rs536601676
|
|
NM_001367624.2(ZNF469):c.9473T>C (p.Leu3158Pro)
|
rs1906626370
|
|
NM_001367624.2(ZNF469):c.9615del (p.Gln3206fs)
|
rs2142314304
|
|
NM_001367624.2(ZNF469):c.9876dup (p.Ala3293fs)
|
rs1906662179
|
|
NM_001367624.2(ZNF469):c.9923C>A (p.Thr3308Asn)
|
rs1285839120
|
|
NM_001368894.2(PAX6):c.*107G>C
|
rs886048201
|
|
NM_001368894.2(PAX6):c.*183dup
|
rs886048200
|
|
NM_001368894.2(PAX6):c.*247T>A
|
rs1468270124
|
|
NM_001368894.2(PAX6):c.*356del
|
rs200391530
|
|
NM_001368894.2(PAX6):c.-118_-117del
|
rs1554986858
|
|
NM_001368894.2(PAX6):c.-120_-118dup
|
|
|
NM_001368894.2(PAX6):c.-128-2del
|
rs1131692282
|
|
NM_001368894.2(PAX6):c.-129+2T>A
|
rs878852979
|
|
NM_001368894.2(PAX6):c.-147_-146dup
|
rs886048205
|
|
NM_001368894.2(PAX6):c.-167G>T
|
rs1956928845
|
|
NM_001368894.2(PAX6):c.-501del
|
rs886048208
|
|
NM_001368894.2(PAX6):c.-507T>C
|
rs886048209
|
|
NM_001368894.2(PAX6):c.-52+1del
|
rs1955943115
|
|
NM_001368894.2(PAX6):c.10+11C>A
|
|
|
NM_001368894.2(PAX6):c.10+13G>A
|
|
|
NM_001368894.2(PAX6):c.10+1635_70del
|
|
|
NM_001368894.2(PAX6):c.10+1G>A
|
|
|
NM_001368894.2(PAX6):c.10+5G>T
|
|
|
NM_001368894.2(PAX6):c.10+7G>A
|
rs2135296029
|
|
NM_001368894.2(PAX6):c.10+7G>T
|
rs2135296029
|
|
NM_001368894.2(PAX6):c.1001_1002del (p.Thr334fs)
|
|
|
NM_001368894.2(PAX6):c.1003G>A (p.Ala335Thr)
|
|
|
NM_001368894.2(PAX6):c.1009del (p.Thr337fs)
|
rs1950537152
|
|
NM_001368894.2(PAX6):c.1017C>T (p.Thr339=)
|
|
|
NM_001368894.2(PAX6):c.1021A>G (p.Ser341Gly)
|
|
|
NM_001368894.2(PAX6):c.1024_1030del (p.Ala342fs)
|
rs1950522383
|
|
NM_001368894.2(PAX6):c.1029G>T (p.Leu343=)
|
|
|
NM_001368894.2(PAX6):c.102_106delinsAACC (p.His34fs)
|
rs1565245835
|
|
NM_001368894.2(PAX6):c.102del (p.His34fs)
|
|
|
NM_001368894.2(PAX6):c.1031C>T (p.Pro344Leu)
|
|
|
NM_001368894.2(PAX6):c.1038dup (p.Pro347fs)
|
|
|
NM_001368894.2(PAX6):c.1041C>T (p.Pro347=)
|
|
|
NM_001368894.2(PAX6):c.1061del (p.Asn354fs)
|
rs2134574071
|
|
NM_001368894.2(PAX6):c.1074+16G>A
|
|
|
NM_001368894.2(PAX6):c.1074+1G>C
|
rs1950507886
|
|
NM_001368894.2(PAX6):c.1074+3_1074+6del
|
rs2134572801
|
|
NM_001368894.2(PAX6):c.1074+4A>G
|
|
|
NM_001368894.2(PAX6):c.1074+6T>C
|
|
|
NM_001368894.2(PAX6):c.1074+8C>T
|
|
|
NM_001368894.2(PAX6):c.1075-2A>G
|
rs794726661
|
|
NM_001368894.2(PAX6):c.1075-3C>A
|
|
|
NM_001368894.2(PAX6):c.1075-8C>T
|
|
|
NM_001368894.2(PAX6):c.1075C>T (p.Pro359Ser)
|
|
|
NM_001368894.2(PAX6):c.1081G>A (p.Val361Ile)
|
rs1346292898
|
|
NM_001368894.2(PAX6):c.1086del (p.Ser363fs)
|
rs1592369895
|
|
NM_001368894.2(PAX6):c.1090C>T (p.Gln364Ter)
|
rs1237278944
|
|
NM_001368894.2(PAX6):c.109G>C (p.Ala37Pro)
|
|
|
NM_001368894.2(PAX6):c.109del (p.Ala37fs)
|
rs1057517780
|
|
NM_001368894.2(PAX6):c.11-20T>C
|
|
|
NM_001368894.2(PAX6):c.11-24_11-20dup
|
rs2135156050
|
|
NM_001368894.2(PAX6):c.1101A>G (p.Ser367=)
|
rs1328757289
|
|
NM_001368894.2(PAX6):c.1102_1106dup (p.Cys370fs)
|
rs1554982609
|
|
NM_001368894.2(PAX6):c.1103dup (p.Tyr368Ter)
|
|
|
NM_001368894.2(PAX6):c.1119C>A (p.Pro373=)
|
|
|
NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp)
|
rs397514640
|
|
NM_001368894.2(PAX6):c.112del (p.Arg38fs)
|
rs1592563428
|
|
NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter)
|
rs1411880763
|
|
NM_001368894.2(PAX6):c.113G>A (p.Arg38Gln)
|
|
|
NM_001368894.2(PAX6):c.113G>C (p.Arg38Pro)
|
|
|
NM_001368894.2(PAX6):c.1141C>T (p.Arg381Trp)
|
|
|
NM_001368894.2(PAX6):c.114_117dup (p.Cys40fs)
|
|
|
NM_001368894.2(PAX6):c.114del (p.Pro39fs)
|
|
|
NM_001368894.2(PAX6):c.114dup (p.Pro39fs)
|
rs1565245598
|
|
NM_001368894.2(PAX6):c.1154C>T (p.Thr385Ile)
|
|
|
NM_001368894.2(PAX6):c.1159A>G (p.Thr387Ala)
|
|
|
NM_001368894.2(PAX6):c.115C>G (p.Pro39Ala)
|
|
|
NM_001368894.2(PAX6):c.115_116dup (p.Cys40fs)
|
rs1592563240
|
|
NM_001368894.2(PAX6):c.1166dup (p.His390fs)
|
rs756801119
|
|
NM_001368894.2(PAX6):c.1168C>A (p.His390Asn)
|
|
|
NM_001368894.2(PAX6):c.117G>C (p.Pro39=)
|
rs919486001
|
|
NM_001368894.2(PAX6):c.117G>T (p.Pro39=)
|
rs919486001
|
|
NM_001368894.2(PAX6):c.117del (p.Cys40fs)
|
|
|
NM_001368894.2(PAX6):c.1182C>G (p.His394Gln)
|
|
|
NM_001368894.2(PAX6):c.1185G>T (p.Met395Ile)
|
|
|
NM_001368894.2(PAX6):c.1198A>G (p.Met400Val)
|
rs1230504203
|
|
NM_001368894.2(PAX6):c.120C>A (p.Cys40Ter)
|
rs1329112134
|
|
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=)
|
rs1949622831
|
|
NM_001368894.2(PAX6):c.1225+5G>A
|
rs1592366898
|
|
NM_001368894.2(PAX6):c.1225+5G>T
|
|
|
NM_001368894.2(PAX6):c.1225G>A (p.Gly409Arg)
|
rs1131692318
|
|
NM_001368894.2(PAX6):c.1226-13C>T
|
rs2134386969
|
|
NM_001368894.2(PAX6):c.1226-4C>G
|
rs11031477
|
|
NM_001368894.2(PAX6):c.1226-7C>T
|
|
|
NM_001368894.2(PAX6):c.1230C>A (p.Leu410=)
|
rs776244636
|
|
NM_001368894.2(PAX6):c.124A>C (p.Ile42Leu)
|
|
|
NM_001368894.2(PAX6):c.1257_1263del (p.Gln420fs)
|
rs1554982299
|
|
NM_001368894.2(PAX6):c.1266C>T (p.Pro422=)
|
|
|
NM_001368894.2(PAX6):c.1287T>G (p.Ser429=)
|
|
|
NM_001368894.2(PAX6):c.128C>T (p.Ser43Phe)
|
rs1592562836
|
|
NM_001368894.2(PAX6):c.1293C>T (p.Tyr431=)
|
|
|
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)
|
rs121907922
|
|
NM_001368894.2(PAX6):c.139C>T (p.Gln47Ter)
|
rs1554985716
|
|
NM_001368894.2(PAX6):c.141+19C>T
|
|
|
NM_001368894.2(PAX6):c.141+3G>A
|
|
|
NM_001368894.2(PAX6):c.141+3G>C
|
rs369243018
|
|
NM_001368894.2(PAX6):c.141+9C>G
|
rs1194088876
|
|
NM_001368894.2(PAX6):c.141G>T (p.Gln47His)
|
rs2135147324
|
|
NM_001368894.2(PAX6):c.161T>A (p.Val54Asp)
|
rs121907921
|
|
NM_001368894.2(PAX6):c.184-3C>T
|
rs2135101861
|
|
NM_001368894.2(PAX6):c.184-5T>C
|
|
|
NM_001368894.2(PAX6):c.184-5T>G
|
rs1131692292
|
|
NM_001368894.2(PAX6):c.184-8C>T
|
rs886048203
|
|
NM_001368894.2(PAX6):c.185T>G (p.Val62Gly)
|
|
|
NM_001368894.2(PAX6):c.194G>A (p.Gly65Glu)
|
|
|
NM_001368894.2(PAX6):c.194G>T (p.Gly65Val)
|
rs587778874
|
|
NM_001368894.2(PAX6):c.198T>G (p.Cys66Trp)
|
|
|
NM_001368894.2(PAX6):c.199G>C (p.Val67Leu)
|
|
|
NM_001368894.2(PAX6):c.1A>C (p.Met1Leu)
|
rs1131692284
|
|
NM_001368894.2(PAX6):c.1A>G (p.Met1Val)
|
rs1131692284
|
|
NM_001368894.2(PAX6):c.20G>T (p.Gly7Val)
|
rs1190491499
|
|
NM_001368894.2(PAX6):c.219G>A (p.Arg73=)
|
rs1953969921
|
|
NM_001368894.2(PAX6):c.225C>A (p.Tyr75Ter)
|
rs760490431
|
|
NM_001368894.2(PAX6):c.225C>T (p.Tyr75=)
|
|
|
NM_001368894.2(PAX6):c.231_237del (p.Gly78fs)
|
rs1953961273
|
|
NM_001368894.2(PAX6):c.237C>T (p.Ser79=)
|
|
|
NM_001368894.2(PAX6):c.245C>T (p.Pro82Leu)
|
rs1953954636
|
|
NM_001368894.2(PAX6):c.249G>T (p.Arg83Ser)
|
rs2135097990
|
|
NM_001368894.2(PAX6):c.255C>T (p.Ile85=)
|
|
|
NM_001368894.2(PAX6):c.256G>A (p.Gly86Ser)
|
|
|
NM_001368894.2(PAX6):c.257G>C (p.Gly86Ala)
|
|
|
NM_001368894.2(PAX6):c.260G>A (p.Gly87Asp)
|
rs2135097306
|
|
NM_001368894.2(PAX6):c.262A>T (p.Ser88Cys)
|
rs1565239425
|
|
NM_001368894.2(PAX6):c.269C>A (p.Pro90Gln)
|
rs2135096558
|
|
NM_001368894.2(PAX6):c.269C>T (p.Pro90Leu)
|
rs2135096558
|
|
NM_001368894.2(PAX6):c.270G>A (p.Pro90=)
|
|
|
NM_001368894.2(PAX6):c.274G>C (p.Val92Leu)
|
|
|
NM_001368894.2(PAX6):c.275T>A (p.Val92Glu)
|
rs886042622
|
|
NM_001368894.2(PAX6):c.279G>A (p.Ala93=)
|
|
|
NM_001368894.2(PAX6):c.27dup (p.Gln10fs)
|
|
|
NM_001368894.2(PAX6):c.280A>G (p.Thr94Ala)
|
|
|
NM_001368894.2(PAX6):c.28C>T (p.Gln10Ter)
|
rs1954553083
|
|
NM_001368894.2(PAX6):c.290T>C (p.Val97Ala)
|
rs2135095172
|
|
NM_001368894.2(PAX6):c.306C>G (p.Ala102=)
|
rs1160160301
|
|
NM_001368894.2(PAX6):c.307C>T (p.Gln103Ter)
|
rs1131692297
|
|
NM_001368894.2(PAX6):c.318G>A (p.Arg106=)
|
rs1953919512
|
|
NM_001368894.2(PAX6):c.319G>T (p.Glu107Ter)
|
|
|
NM_001368894.2(PAX6):c.336T>A (p.Phe112Leu)
|
rs2135091755
|
|
NM_001368894.2(PAX6):c.337G>A (p.Ala113Thr)
|
|
|
NM_001368894.2(PAX6):c.339T>C (p.Ala113=)
|
|
|
NM_001368894.2(PAX6):c.33C>T (p.Leu11=)
|
|
|
NM_001368894.2(PAX6):c.349C>A (p.Arg117=)
|
rs121907914
|
|
NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter)
|
rs121907914
|
|
NM_001368894.2(PAX6):c.34G>C (p.Gly12Arg)
|
rs1565246499
|
|
NM_001368894.2(PAX6):c.350G>C (p.Arg117Pro)
|
|
|
NM_001368894.2(PAX6):c.358_359insA (p.Leu120fs)
|
rs1953896100
|
|
NM_001368894.2(PAX6):c.359T>C (p.Leu120Ser)
|
|
|
NM_001368894.2(PAX6):c.35del (p.Gly12fs)
|
rs1592564672
|
|
NM_001368894.2(PAX6):c.367G>A (p.Glu123Lys)
|
|
|
NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter)
|
rs1554985305
|
|
NM_001368894.2(PAX6):c.370G>A (p.Gly124Arg)
|
|
|
NM_001368894.2(PAX6):c.373G>T (p.Val125Phe)
|
|
|
NM_001368894.2(PAX6):c.373del (p.Val125fs)
|
rs1357628990
|
|
NM_001368894.2(PAX6):c.373dup (p.Val125fs)
|
rs1357628990
|
|
NM_001368894.2(PAX6):c.377G>A (p.Cys126Tyr)
|
|
|
NM_001368894.2(PAX6):c.385_386dup (p.Asp129fs)
|
rs2135088191
|
|
NM_001368894.2(PAX6):c.38G>C (p.Gly13Ala)
|
rs1954548195
|
|
NM_001368894.2(PAX6):c.399+10_399+11del
|
rs2135085957
|
|
NM_001368894.2(PAX6):c.399+18A>G
|
|
|
NM_001368894.2(PAX6):c.399+1G>A
|
rs398123295
|
|
NM_001368894.2(PAX6):c.399+1G>C
|
rs398123295
|
|
NM_001368894.2(PAX6):c.399+2T>C
|
rs2135086958
|
|
NM_001368894.2(PAX6):c.399+3A>T
|
rs2135086830
|
|
NM_001368894.2(PAX6):c.399+4A>T
|
rs1554985282
|
|
NM_001368894.2(PAX6):c.399+5G>A
|
rs1592542002
|
|
NM_001368894.2(PAX6):c.399+9A>G
|
|
|
NM_001368894.2(PAX6):c.399C>T (p.Ser133=)
|
|
|
NM_001368894.2(PAX6):c.3G>A (p.Met1Ile)
|
rs1554986754
|
|
NM_001368894.2(PAX6):c.400-15_400-5del
|
rs758179195
|
|
NM_001368894.2(PAX6):c.400-18T>G
|
|
|
NM_001368894.2(PAX6):c.400-2A>T
|
rs1592532580
|
|
NM_001368894.2(PAX6):c.407C>A (p.Ser136Ter)
|
rs1554985100
|
|
NM_001368894.2(PAX6):c.415A>G (p.Arg139Gly)
|
|
|
NM_001368894.2(PAX6):c.416G>C (p.Arg139Thr)
|
|
|
NM_001368894.2(PAX6):c.417A>C (p.Arg139Ser)
|
rs1231578758
|
|
NM_001368894.2(PAX6):c.417_418del (p.Arg139fs)
|
rs1592532084
|
|
NM_001368894.2(PAX6):c.417del (p.Val140fs)
|
rs2135051167
|
|
NM_001368894.2(PAX6):c.419T>A (p.Val140Asp)
|
rs121907919
|
|
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)
|
rs121907918
|
|
NM_001368894.2(PAX6):c.425G>C (p.Arg142Pro)
|
rs1592531953
|
|
NM_001368894.2(PAX6):c.42C>T (p.Val14=)
|
|
|
NM_001368894.2(PAX6):c.445C>T (p.Gln149Ter)
|
rs1131692304
|
|
NM_001368894.2(PAX6):c.44_45del (p.Phe15fs)
|
|
|
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile)
|
rs371018133
|
|
NM_001368894.2(PAX6):c.456C>T (p.Gly152=)
|
rs1304237286
|
|
NM_001368894.2(PAX6):c.463G>A (p.Gly155Ser)
|
|
|
NM_001368894.2(PAX6):c.464G>A (p.Gly155Asp)
|
|
|
NM_001368894.2(PAX6):c.469dup (p.Tyr157fs)
|
|
|
NM_001368894.2(PAX6):c.470A>G (p.Tyr157Cys)
|
rs201983312
|
|
NM_001368894.2(PAX6):c.478C>G (p.Leu160Val)
|
|
|
NM_001368894.2(PAX6):c.47del (p.Val16fs)
|
|
|
NM_001368894.2(PAX6):c.483del (p.Met162fs)
|
rs2135047165
|
|
NM_001368894.2(PAX6):c.492C>T (p.Asn164=)
|
|
|
NM_001368894.2(PAX6):c.493G>T (p.Gly165Trp)
|
rs1299258202
|
|
NM_001368894.2(PAX6):c.495_496delinsTT (p.Gln166Ter)
|
rs1953513506
|
|
NM_001368894.2(PAX6):c.496C>T (p.Gln166Ter)
|
|
|
NM_001368894.2(PAX6):c.49_54del (p.Asn17_Gly18del)
|
rs1592564313
|
|
NM_001368894.2(PAX6):c.4C>T (p.Gln2Ter)
|
|
|
NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter)
|
rs1554985028
|
|
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser)
|
rs1953501315
|
|
NM_001368894.2(PAX6):c.512G>T (p.Gly171Val)
|
|
|
NM_001368894.2(PAX6):c.512del (p.Gly171fs)
|
rs1554985024
|
|
NM_001368894.2(PAX6):c.518G>A (p.Arg173His)
|
|
|
NM_001368894.2(PAX6):c.524G>A (p.Gly175Asp)
|
rs1592530260
|
|
NM_001368894.2(PAX6):c.527G>A (p.Trp176Ter)
|
rs1953478890
|
|
NM_001368894.2(PAX6):c.528G>A (p.Trp176Ter)
|
rs1057520755
|
|
NM_001368894.2(PAX6):c.52G>A (p.Gly18Arg)
|
rs886044289
|
|
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)
|
rs886044289
|
|
NM_001368894.2(PAX6):c.52G>T (p.Gly18Trp)
|
|
|
NM_001368894.2(PAX6):c.532_536del (p.Pro178fs)
|
rs1953470546
|
|
NM_001368894.2(PAX6):c.532_542delinsTCGGTA (p.Pro178fs)
|
|
|
NM_001368894.2(PAX6):c.533C>T (p.Pro178Leu)
|
rs954552997
|
|
NM_001368894.2(PAX6):c.534G>A (p.Pro178=)
|
|
|
NM_001368894.2(PAX6):c.537del (p.Thr180fs)
|
rs1554984996
|
|
NM_001368894.2(PAX6):c.541T>A (p.Ser181Thr)
|
rs1592529768
|
|
NM_001368894.2(PAX6):c.553C>A (p.Gln185Lys)
|
rs1131692308
|
|
NM_001368894.2(PAX6):c.553C>T (p.Gln185Ter)
|
rs1131692308
|
|
NM_001368894.2(PAX6):c.555A>G (p.Gln185=)
|
|
|
NM_001368894.2(PAX6):c.556C>A (p.Pro186Thr)
|
rs1049560370
|
|
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del)
|
rs747077748
|
|
NM_001368894.2(PAX6):c.560del (p.Thr187fs)
|
|
|
NM_001368894.2(PAX6):c.565+17C>T
|
|
|
NM_001368894.2(PAX6):c.566-1G>T
|
|
|
NM_001368894.2(PAX6):c.56G>T (p.Arg19Leu)
|
rs2135152943
|
|
NM_001368894.2(PAX6):c.574C>A (p.Gln192Lys)
|
|
|
NM_001368894.2(PAX6):c.578_579insC (p.Gln193fs)
|
rs1554983577
|
|
NM_001368894.2(PAX6):c.580C>T (p.Gln194Ter)
|
rs1554983571
|
|
NM_001368894.2(PAX6):c.585A>C (p.Glu195Asp)
|
|
|
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg)
|
rs886048202
|
|
NM_001368894.2(PAX6):c.58C>T (p.Pro20Ser)
|
|
|
NM_001368894.2(PAX6):c.590G>C (p.Gly197Ala)
|
rs541894561
|
|
NM_001368894.2(PAX6):c.591G>A (p.Gly197=)
|
|
|
NM_001368894.2(PAX6):c.593G>T (p.Gly198Val)
|
|
|
NM_001368894.2(PAX6):c.598_599insCC (p.Asn200fs)
|
|
|
NM_001368894.2(PAX6):c.601A>T (p.Thr201Ser)
|
|
|
NM_001368894.2(PAX6):c.621C>A (p.Asn207Lys)
|
|
|
NM_001368894.2(PAX6):c.621C>T (p.Asn207=)
|
|
|
NM_001368894.2(PAX6):c.622G>T (p.Gly208Ter)
|
|
|
NM_001368894.2(PAX6):c.62_65dup (p.Asp23fs)
|
rs1954534591
|
|
NM_001368894.2(PAX6):c.630T>G (p.Asp210Glu)
|
|
|
NM_001368894.2(PAX6):c.643C>A (p.Gln215Lys)
|
|
|
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)
|
rs121907916
|
|
NM_001368894.2(PAX6):c.651A>G (p.Arg217=)
|
|
|
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)
|
rs121907924
|
|
NM_001368894.2(PAX6):c.65C>T (p.Pro22Leu)
|
rs1954533614
|
|
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)
|
rs757259413
|
|
NM_001368894.2(PAX6):c.66_75dup (p.Arg26fs)
|
|
|
NM_001368894.2(PAX6):c.674A>G (p.Gln225Arg)
|
rs1592433640
|
|
NM_001368894.2(PAX6):c.684A>T (p.Arg228Ser)
|
|
|
NM_001368894.2(PAX6):c.690C>T (p.Ser230=)
|
rs373715028
|
|
NM_001368894.2(PAX6):c.690del (p.Phe231fs)
|
rs2134656843
|
|
NM_001368894.2(PAX6):c.703C>T (p.Gln235Ter)
|
rs1131692309
|
|
NM_001368894.2(PAX6):c.709G>T (p.Glu237Ter)
|
rs2134655427
|
|
NM_001368894.2(PAX6):c.714C>T (p.Ala238=)
|
rs1554983496
|
|
NM_001368894.2(PAX6):c.720del (p.Glu242fs)
|
rs2134654635
|
|
NM_001368894.2(PAX6):c.724+14del
|
rs772158967
|
|
NM_001368894.2(PAX6):c.724+16A>G
|
|
|
NM_001368894.2(PAX6):c.724+1G>A
|
|
|
NM_001368894.2(PAX6):c.724+20T>C
|
|
|
NM_001368894.2(PAX6):c.724+3G>A
|
|
|
NM_001368894.2(PAX6):c.724+7G>C
|
|
|
NM_001368894.2(PAX6):c.724+8_724+9del
|
|
|
NM_001368894.2(PAX6):c.725-14A>G
|
|
|
NM_001368894.2(PAX6):c.725-18A>G
|
rs2134615673
|
|
NM_001368894.2(PAX6):c.725-19A>C
|
rs369866279
|
|
NM_001368894.2(PAX6):c.725-8T>A
|
|
|
NM_001368894.2(PAX6):c.735A>G (p.Arg245=)
|
|
|
NM_001368894.2(PAX6):c.741T>C (p.His247=)
|
|
|
NM_001368894.2(PAX6):c.745C>A (p.Pro249Thr)
|
|
|
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter)
|
rs121907917
|
|
NM_001368894.2(PAX6):c.761G>A (p.Arg254Gln)
|
rs2134611494
|
|
NM_001368894.2(PAX6):c.762A>G (p.Arg254=)
|
|
|
NM_001368894.2(PAX6):c.76C>T (p.Arg26Trp)
|
rs121907913
|
|
NM_001368894.2(PAX6):c.787_807+102del
|
|
|
NM_001368894.2(PAX6):c.78del (p.Gln27fs)
|
rs1131692286
|
|
NM_001368894.2(PAX6):c.790_806del (p.Pro264fs)
|
rs2134609949
|
|
NM_001368894.2(PAX6):c.798A>G (p.Ala266=)
|
|
|
NM_001368894.2(PAX6):c.802_807+9del
|
rs2134609369
|
|
NM_001368894.2(PAX6):c.803T>G (p.Ile268Arg)
|
rs2134610066
|
|
NM_001368894.2(PAX6):c.803dup (p.Gln269fs)
|
|
|
NM_001368894.2(PAX6):c.807+14G>A
|
rs1404270061
|
|
NM_001368894.2(PAX6):c.807G>A (p.Gln269=)
|
|
|
NM_001368894.2(PAX6):c.808-13A>G
|
|
|
NM_001368894.2(PAX6):c.808-15C>T
|
|
|
NM_001368894.2(PAX6):c.808-18G>A
|
|
|
NM_001368894.2(PAX6):c.808-19T>C
|
|
|
NM_001368894.2(PAX6):c.808-19del
|
|
|
NM_001368894.2(PAX6):c.808-1G>C
|
rs1592416538
|
|
NM_001368894.2(PAX6):c.808G>T (p.Val270Leu)
|
rs779126789
|
|
NM_001368894.2(PAX6):c.812G>A (p.Trp271Ter)
|
rs1592416453
|
|
NM_001368894.2(PAX6):c.812G>C (p.Trp271Ser)
|
|
|
NM_001368894.2(PAX6):c.817dup (p.Ser273fs)
|
rs1592416305
|
|
NM_001368894.2(PAX6):c.81G>A (p.Gln27=)
|
rs1954524676
|
|
NM_001368894.2(PAX6):c.81G>C (p.Gln27His)
|
|
|
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)
|
rs886041222
|
|
NM_001368894.2(PAX6):c.824G>A (p.Arg275Gln)
|
rs1950629763
|
|
NM_001368894.2(PAX6):c.828G>C (p.Arg276Ser)
|
rs1950628459
|
|
NM_001368894.2(PAX6):c.829del (p.Ala277fs)
|
rs2134595824
|
|
NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter)
|
rs1131692314
|
|
NM_001368894.2(PAX6):c.862C>T (p.Gln288Ter)
|
rs1554983229
|
|
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)
|
|
|
NM_001368894.2(PAX6):c.878G>A (p.Ser293Asn)
|
|
|
NM_001368894.2(PAX6):c.882C>T (p.Asn294=)
|
|
|
NM_001368894.2(PAX6):c.885A>G (p.Thr295=)
|
rs1592415376
|
|
NM_001368894.2(PAX6):c.88G>A (p.Val30Ile)
|
|
|
NM_001368894.2(PAX6):c.893dup (p.His298fs)
|
|
|
NM_001368894.2(PAX6):c.918C>T (p.Ser306=)
|
|
|
NM_001368894.2(PAX6):c.934C>G (p.Pro312Ala)
|
|
|
NM_001368894.2(PAX6):c.939dup (p.Pro314fs)
|
|
|
NM_001368894.2(PAX6):c.949A>G (p.Thr317Ala)
|
rs1326972158
|
|
NM_001368894.2(PAX6):c.951C>T (p.Thr317=)
|
|
|
NM_001368894.2(PAX6):c.958+18T>C
|
|
|
NM_001368894.2(PAX6):c.958+18T>G
|
|
|
NM_001368894.2(PAX6):c.958+1G>A
|
rs1057517783
|
|
NM_001368894.2(PAX6):c.959-1G>A
|
rs1592412022
|
|
NM_001368894.2(PAX6):c.959-2A>T
|
rs587776571
|
|
NM_001368894.2(PAX6):c.959-3C>G
|
rs1057523821
|
|
NM_001368894.2(PAX6):c.959-3_959-2del
|
|
|
NM_001368894.2(PAX6):c.95T>G (p.Leu32Arg)
|
rs1954518916
|
|
NM_001368894.2(PAX6):c.960T>C (p.Val320=)
|
|
|
NM_001368894.2(PAX6):c.981C>T (p.Ser327=)
|
rs1042417987
|
|
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter)
|
rs1057517785
|
|
NM_001368894.2(PAX6):c.992dup (p.Thr332fs)
|
|
|
NM_001368894.2(PAX6):c.993A>G (p.Arg331=)
|
|
|
NM_001368894.2(PAX6):c.9_10insTACT (p.Ser4delinsTyrTer)
|
|
|
NM_001386094.1(AGBL1):c.785A>C (p.Gln262Pro)
|
|
|
NM_001395430.1(PAK6):c.1855C>A (p.Pro619Thr)
|
rs1407997977
|
|
NM_001845.6(COL4A1):c.388G>T (p.Gly130Trp)
|
|
|
NM_001845.6(COL4A1):c.976G>A (p.Gly326Ser)
|
|
|
NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)
|
rs1553200431
|
|
NM_001920.5(DCN):c.*160C>T
|
rs7441
|
|
NM_001920.5(DCN):c.*289A>T
|
rs886049889
|
|
NM_001920.5(DCN):c.*341A>G
|
rs1880967544
|
|
NM_001920.5(DCN):c.*377T>C
|
rs35379812
|
|
NM_001920.5(DCN):c.*443T>G
|
rs886049888
|
|
NM_001920.5(DCN):c.1036T>G (p.Cys346Gly)
|
|
|
NM_001920.5(DCN):c.1062A>T (p.Gln354His)
|
rs765239185
|
|
NM_001920.5(DCN):c.127G>A (p.Asp43Asn)
|
rs1883428257
|
|
NM_001920.5(DCN):c.47_50del (p.Ala16fs)
|
rs1565791154
|
|
NM_001920.5(DCN):c.555G>T (p.Pro185=)
|
rs147765043
|
|
NM_001920.5(DCN):c.941del (p.Pro314fs)
|
rs80338742
|
|
NM_001920.5(DCN):c.947del (p.Gly316fs)
|
rs397515545
|
|
NM_001920.5(DCN):c.962del (p.Lys321fs)
|
rs587777258
|
|
NM_001920.5(DCN):c.967del (p.Ser323fs)
|
rs80338741
|
|
NM_002336.3(LRP6):c.4822C>T (p.Pro1608Ser)
|
rs1565521308
|
|
NM_002353.2(TACSTD2):c.-112G>A
|
rs1646892722
|
|
NM_002353.2(TACSTD2):c.-160C>G
|
rs977480107
|
|
NM_002353.2(TACSTD2):c.-169G>A
|
rs61779294
|
|
NM_002353.2(TACSTD2):c.-199G>A
|
rs562217606
|
|
NM_002353.2(TACSTD2):c.-269G>C
|
rs886046458
|
|
NM_002353.3(TACSTD2):c.*236C>G
|
rs1646876980
|
|
NM_002353.3(TACSTD2):c.*298A>C
|
rs866363830
|
|
NM_002353.3(TACSTD2):c.*565G>T
|
rs528472691
|
|
NM_002353.3(TACSTD2):c.*645T>C
|
rs1570021538
|
|
NM_002353.3(TACSTD2):c.-56C>T
|
rs774270086
|
|
NM_002353.3(TACSTD2):c.2T>G (p.Met1Arg)
|
rs80358226
|
|
NM_002353.3(TACSTD2):c.355T>A (p.Cys119Ser)
|
rs80358227
|
|
NM_002353.3(TACSTD2):c.509C>A (p.Ser170Ter)
|
rs80358225
|
|
NM_002353.3(TACSTD2):c.557T>C (p.Leu186Pro)
|
rs80358228
|
|
NM_002353.3(TACSTD2):c.619C>T (p.Gln207Ter)
|
rs80358224
|
|
NM_002353.3(TACSTD2):c.632del (p.Gln211fs)
|
rs1569579635
|
|
NM_002353.3(TACSTD2):c.653del (p.Asp218fs)
|
rs780819073
|
|
NM_002353.3(TACSTD2):c.772_783delinsT (p.Leu257_Ile258insTer)
|
|
|
NM_004289.7(NFE2L3):c.932A>G (p.Gln311Arg)
|
|
|
NM_004491.5(ARHGAP35):c.4444del (p.Gln1482fs)
|
|
|
NM_004838.4(HOMER3):c.434G>A (p.Ser145Asn)
|
|
|
NM_005202.4(COL8A2):c.*12G>T
|
rs3738360
|
|
NM_005202.4(COL8A2):c.1349T>G (p.Leu450Trp)
|
rs80358192
|
|
NM_005202.4(COL8A2):c.1363C>A (p.Gln455Lys)
|
rs80358191
|
|
NM_005202.4(COL8A2):c.1363_1364delinsGT (p.Gln455Val)
|
rs727504229
|
|
NM_005430.4(WNT1):c.1063G>T (p.Val355Phe)
|
rs387907358
|
|
NM_005605.5(PPP3CC):c.1199T>C (p.Met400Thr)
|
rs1563790727
|
|
NM_005975.4(PTK6):c.1066C>A (p.Pro356Thr)
|
rs777792665
|
|
NM_005993.5(TBCD):c.2137C>G (p.His713Asp)
|
rs200903034
|
|
NM_006445.4(PRPF8):c.3527C>T (p.Ser1176Phe)
|
rs869025267
|
|
NM_006793.5(PRDX3):c.568G>C (p.Asp190His)
|
rs2133650052
|
|
NM_007035.4(KERA):c.1026del (p.Cys343fs)
|
rs386833984
|
|
NM_007035.4(KERA):c.229T>C (p.Tyr77His)
|
|
|
NM_007035.4(KERA):c.320T>G (p.Ile107Arg)
|
rs757611751
|
|
NM_007035.4(KERA):c.331G>A (p.Gly111Arg)
|
|
|
NM_007035.4(KERA):c.520C>T (p.Gln174Ter)
|
rs121917860
|
|
NM_007035.4(KERA):c.623C>G (p.Pro208Arg)
|
rs778354357
|
|
NM_007374.3(SIX6):c.-227_572+235del
|
|
|
NM_007374.3(SIX6):c.547G>C (p.Asp183His)
|
rs1594631582
|
|
NM_012293.3(PXDN):c.1018+1G>A
|
|
|
NM_012293.3(PXDN):c.1074C>T (p.Ser358=)
|
|
|
NM_012293.3(PXDN):c.1109del (p.Pro370fs)
|
rs748853041
|
|
NM_012293.3(PXDN):c.1206C>T (p.Val402=)
|
|
|
NM_012293.3(PXDN):c.1207G>A (p.Val403Ile)
|
|
|
NM_012293.3(PXDN):c.1248C>A (p.Asn416Lys)
|
|
|
NM_012293.3(PXDN):c.1284C>T (p.Ile428=)
|
|
|
NM_012293.3(PXDN):c.1383G>A (p.Pro461=)
|
|
|
NM_012293.3(PXDN):c.1386C>T (p.Pro462=)
|
|
|
NM_012293.3(PXDN):c.1408+15G>A
|
|
|
NM_012293.3(PXDN):c.1408+164T>C
|
rs890055
|
|
NM_012293.3(PXDN):c.1408+8_1408+9dup
|
|
|
NM_012293.3(PXDN):c.1409-16G>A
|
|
|
NM_012293.3(PXDN):c.1409-16G>T
|
|
|
NM_012293.3(PXDN):c.1517A>G (p.Asn506Ser)
|
rs2125425458
|
|
NM_012293.3(PXDN):c.1739C>A (p.Thr580Asn)
|
|
|
NM_012293.3(PXDN):c.1927C>T (p.Arg643Ter)
|
|
|
NM_012293.3(PXDN):c.1964A>G (p.Asn655Ser)
|
|
|
NM_012293.3(PXDN):c.1964A>T (p.Asn655Ile)
|
rs773445177
|
|
NM_012293.3(PXDN):c.1992G>A (p.Pro664=)
|
|
|
NM_012293.3(PXDN):c.2044A>C (p.Thr682Pro)
|
|
|
NM_012293.3(PXDN):c.2098G>T (p.Gly700Ter)
|
rs1683063437
|
|
NM_012293.3(PXDN):c.2172C>G (p.Thr724=)
|
|
|
NM_012293.3(PXDN):c.2172C>T (p.Thr724=)
|
rs368483848
|
|
NM_012293.3(PXDN):c.2201A>T (p.Asp734Val)
|
|
|
NM_012293.3(PXDN):c.2214_2215delinsAA (p.His738_Gln739delinsGlnLys)
|
rs2125412247
|
|
NM_012293.3(PXDN):c.2276C>T (p.Ser759Leu)
|
rs200731840
|
|
NM_012293.3(PXDN):c.2350del (p.His784fs)
|
rs2125412042
|
|
NM_012293.3(PXDN):c.2353C>T (p.Arg785Ter)
|
rs1316655042
|
|
NM_012293.3(PXDN):c.2375_2397del (p.Leu792fs)
|
rs587777573
|
|
NM_012293.3(PXDN):c.243A>G (p.Ala81=)
|
rs1572164777
|
|
NM_012293.3(PXDN):c.251G>A (p.Arg84Gln)
|
|
|
NM_012293.3(PXDN):c.2568del (p.Cys857fs)
|
rs558163499
|
|
NM_012293.3(PXDN):c.2569T>C (p.Cys857Arg)
|
rs1682948313
|
|
NM_012293.3(PXDN):c.2569del (p.Cys857fs)
|
rs1408683917
|
|
NM_012293.3(PXDN):c.2591C>G (p.Pro864Arg)
|
rs769171499
|
|
NM_012293.3(PXDN):c.2640C>G (p.Arg880=)
|
rs79442404
|
|
NM_012293.3(PXDN):c.2640C>T (p.Arg880=)
|
|
|
NM_012293.3(PXDN):c.272+18A>G
|
|
|
NM_012293.3(PXDN):c.2730A>C (p.Ile910=)
|
rs1863135
|
|
NM_012293.3(PXDN):c.2741A>G (p.Asn914Ser)
|
|
|
NM_012293.3(PXDN):c.2748C>T (p.Tyr916=)
|
|
|
NM_012293.3(PXDN):c.2821G>A (p.Val941Met)
|
rs189824177
|
|
NM_012293.3(PXDN):c.2824C>T (p.Gln942Ter)
|
rs2125411312
|
|
NM_012293.3(PXDN):c.2840C>T (p.Pro947Leu)
|
|
|
NM_012293.3(PXDN):c.2854G>T (p.Ala952Ser)
|
|
|
NM_012293.3(PXDN):c.2913C>T (p.Phe971=)
|
|
|
NM_012293.3(PXDN):c.2920G>A (p.Gly974Arg)
|
|
|
NM_012293.3(PXDN):c.2999C>G (p.Thr1000Arg)
|
rs201077249
|
|
NM_012293.3(PXDN):c.3000G>A (p.Thr1000=)
|
|
|
NM_012293.3(PXDN):c.3042CTA[1] (p.Tyr1016del)
|
|
|
NM_012293.3(PXDN):c.3138G>A (p.Thr1046=)
|
rs147695468
|
|
NM_012293.3(PXDN):c.3153C>T (p.His1051=)
|
|
|
NM_012293.3(PXDN):c.3169A>G (p.Ile1057Val)
|
|
|
NM_012293.3(PXDN):c.3201C>T (p.Thr1067=)
|
|
|
NM_012293.3(PXDN):c.3224C>T (p.Thr1075Met)
|
|
|
NM_012293.3(PXDN):c.3247C>T (p.Arg1083Trp)
|
|
|
NM_012293.3(PXDN):c.32_33delinsTT (p.Arg11Leu)
|
rs2125500995
|
|
NM_012293.3(PXDN):c.3366C>G (p.Phe1122Leu)
|
|
|
NM_012293.3(PXDN):c.3441A>G (p.Ala1147=)
|
rs773884838
|
|
NM_012293.3(PXDN):c.3469A>G (p.Ile1157Val)
|
|
|
NM_012293.3(PXDN):c.3482G>A (p.Arg1161Gln)
|
|
|
NM_012293.3(PXDN):c.3483G>T (p.Arg1161=)
|
rs375049627
|
|
NM_012293.3(PXDN):c.3570T>C (p.Asn1190=)
|
rs2125410277
|
|
NM_012293.3(PXDN):c.3609-1G>C
|
|
|
NM_012293.3(PXDN):c.3742A>G (p.Arg1248Gly)
|
rs2125407700
|
|
NM_012293.3(PXDN):c.3743+2T>G
|
|
|
NM_012293.3(PXDN):c.3803C>T (p.Thr1268Met)
|
|
|
NM_012293.3(PXDN):c.3876G>A (p.Ala1292=)
|
rs377271958
|
|
NM_012293.3(PXDN):c.3906C>T (p.Asp1302=)
|
rs111450110
|
|
NM_012293.3(PXDN):c.3949G>A (p.Glu1317Lys)
|
rs367602205
|
|
NM_012293.3(PXDN):c.3953-5T>C
|
|
|
NM_012293.3(PXDN):c.400G>A (p.Ala134Thr)
|
|
|
NM_012293.3(PXDN):c.4085A>C (p.Gln1362Pro)
|
|
|
NM_012293.3(PXDN):c.417-7C>T
|
|
|
NM_012293.3(PXDN):c.4206+15G>A
|
|
|
NM_012293.3(PXDN):c.4206+73G>C
|
rs6742039
|
|
NM_012293.3(PXDN):c.4206+81A>G
|
rs6729142
|
|
NM_012293.3(PXDN):c.4216_4225dup (p.Arg1409delinsProTer)
|
rs1572110097
|
|
NM_012293.3(PXDN):c.4320+10G>A
|
|
|
NM_012293.3(PXDN):c.4357C>A (p.Pro1453Thr)
|
|
|
NM_012293.3(PXDN):c.4425G>A (p.Ala1475=)
|
|
|
NM_012293.3(PXDN):c.621G>T (p.Leu207=)
|
|
|
NM_012293.3(PXDN):c.632C>T (p.Ala211Val)
|
|
|
NM_012293.3(PXDN):c.657G>A (p.Ala219=)
|
rs764442724
|
|
NM_012293.3(PXDN):c.693_697dup (p.Val233fs)
|
rs1572153816
|
|
NM_012293.3(PXDN):c.717A>G (p.Glu239=)
|
rs2125441165
|
|
NM_012293.3(PXDN):c.730+15dup
|
|
|
NM_012293.3(PXDN):c.730+18C>T
|
|
|
NM_012293.3(PXDN):c.742A>T (p.Ile248Phe)
|
|
|
NM_012293.3(PXDN):c.831C>A (p.Ile277=)
|
rs1553362974
|
|
NM_012293.3(PXDN):c.849-8C>T
|
|
|
NM_012293.3(PXDN):c.873T>C (p.Asp291=)
|
|
|
NM_013289.4(KIR3DL1):c.337G>A (p.Val113Met)
|
|
|
NM_013289.4(KIR3DL1):c.475G>T (p.Gly159Trp)
|
|
|
NM_013319.2(UBIAD1):c.-337C>T
|
rs547031506
|
|
NM_013319.3(UBIAD1):c.*1586C>T
|
rs886045081
|
|
NM_013319.3(UBIAD1):c.*1779C>T
|
rs886045083
|
|
NM_013319.3(UBIAD1):c.*1810del
|
rs781564164
|
|
NM_013319.3(UBIAD1):c.*1811G>C
|
rs867059451
|
|
NM_013319.3(UBIAD1):c.*1817_*1820del
|
rs371474267
|
|
NM_013319.3(UBIAD1):c.*221_*223del
|
rs886045069
|
|
NM_013319.3(UBIAD1):c.*247T>C
|
rs886045070
|
|
NM_013319.3(UBIAD1):c.*48A>G
|
rs368504935
|
|
NM_013319.3(UBIAD1):c.*94G>A
|
rs535726476
|
|
NM_013319.3(UBIAD1):c.*969_*970insTTTG
|
rs3063961
|
|
NM_013319.3(UBIAD1):c.*990T>C
|
rs1638286979
|
|
NM_013319.3(UBIAD1):c.-310C>T
|
rs1471509365
|
|
NM_013319.3(UBIAD1):c.-78G>C
|
rs533754690
|
|
NM_013319.3(UBIAD1):c.-86G>C
|
rs948937923
|
|
NM_013319.3(UBIAD1):c.191C>T (p.Pro64Leu)
|
rs1651875842
|
|
NM_013319.3(UBIAD1):c.305A>G (p.Asn102Ser)
|
rs118203945
|
|
NM_013319.3(UBIAD1):c.335A>G (p.Asp112Gly)
|
rs118203950
|
|
NM_013319.3(UBIAD1):c.355A>G (p.Arg119Gly)
|
rs118203947
|
|
NM_013319.3(UBIAD1):c.494T>G (p.Phe165Cys)
|
rs886045058
|
|
NM_013319.3(UBIAD1):c.511T>C (p.Ser171Pro)
|
rs118203951
|
|
NM_013319.3(UBIAD1):c.524C>T (p.Thr175Ile)
|
rs118203948
|
|
NM_013319.3(UBIAD1):c.529G>C (p.Gly177Arg)
|
rs118203946
|
|
NM_013319.3(UBIAD1):c.556G>A (p.Gly186Arg)
|
rs118203952
|
|
NM_013319.3(UBIAD1):c.600G>A (p.Met200Ile)
|
rs773070987
|
|
NM_013319.3(UBIAD1):c.695A>G (p.Asn232Ser)
|
rs118203949
|
|
NM_013319.3(UBIAD1):c.708C>G (p.Asp236Glu)
|
rs118203953
|
|
NM_013319.3(UBIAD1):c.711G>T (p.Met237Ile)
|
rs776301691
|
|
NM_013319.3(UBIAD1):c.739A>G (p.Thr247Ala)
|
rs1638253298
|
|
NM_014512.1(KIR2DS1):c.272A= (p.Lys91=)
|
|
|
NM_014588.5(VSX1):c.-239G>C
|
rs886056559
|
|
NM_014588.5(VSX1):c.-274_-270GGGGT[2]
|
rs144366921
|
|
NM_014588.5(VSX1):c.-274_-270GGGGT[3]
|
rs144366921
|
|
NM_014588.5(VSX1):c.-61C>G
|
rs886056558
|
|
NM_014588.6(VSX1):c.*396T>G
|
rs2089477655
|
|
NM_014588.6(VSX1):c.*610G>A
|
rs760422181
|
|
NM_014588.6(VSX1):c.*88C>G
|
rs886056556
|
|
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)
|
rs74315433
|
|
NM_014588.6(VSX1):c.479G>T (p.Gly160Val)
|
rs74315433
|
|
NM_014588.6(VSX1):c.578C>T (p.Ala193Val)
|
rs2089572820
|
|
NM_014588.6(VSX1):c.612C>T (p.Pro204=)
|
rs200369946
|
|
NM_014588.6(VSX1):c.740C>G (p.Pro247Arg)
|
rs576300014
|
|
NM_014588.6(VSX1):c.809-6dup
|
rs11427085
|
|
NM_014588.6(VSX1):c.871C>T (p.Leu291Phe)
|
rs762996146
|
|
NM_015040.3(PIKFYVE):c.2008_2190del (p.Ile670_Gln730del)
|
|
|
NM_015040.4(PIKFYVE):c.*1001G>T
|
rs886055541
|
|
NM_015040.4(PIKFYVE):c.*1196A>G
|
rs886055542
|
|
NM_015040.4(PIKFYVE):c.*1382T>C
|
rs892979377
|
|
NM_015040.4(PIKFYVE):c.*1429G>C
|
rs886055543
|
|
NM_015040.4(PIKFYVE):c.*1552G>A
|
rs1382245964
|
|
NM_015040.4(PIKFYVE):c.*1638del
|
rs886055544
|
|
NM_015040.4(PIKFYVE):c.*2027C>T
|
rs551912289
|
|
NM_015040.4(PIKFYVE):c.*2030G>C
|
rs571740486
|
|
NM_015040.4(PIKFYVE):c.*210G>A
|
rs77542967
|
|
NM_015040.4(PIKFYVE):c.*2218A>T
|
rs886055546
|
|
NM_015040.4(PIKFYVE):c.*2520T>A
|
rs1296543469
|
|
NM_015040.4(PIKFYVE):c.*2520T>C
|
rs1296543469
|
|
NM_015040.4(PIKFYVE):c.*2549G>A
|
rs16841092
|
|
NM_015040.4(PIKFYVE):c.*2739A>C
|
rs1208320222
|
|
NM_015040.4(PIKFYVE):c.*2763C>T
|
rs1700260174
|
|
NM_015040.4(PIKFYVE):c.*3027A>C
|
rs573143426
|
|
NM_015040.4(PIKFYVE):c.*3099_*3100insGTT
|
rs567074655
|
|
NM_015040.4(PIKFYVE):c.*3099_*3100insGTTTTTTTT
|
rs1553538567
|
|
NM_015040.4(PIKFYVE):c.*3102_*3104dup
|
rs10622340
|
|
NM_015040.4(PIKFYVE):c.*3304TGTAT[1]
|
rs71968755
|
|
NM_015040.4(PIKFYVE):c.*518C>T
|
rs148739344
|
|
NM_015040.4(PIKFYVE):c.*720A>G
|
rs886055537
|
|
NM_015040.4(PIKFYVE):c.*772dup
|
rs886055538
|
|
NM_015040.4(PIKFYVE):c.*868T>C
|
rs1167656721
|
|
NM_015040.4(PIKFYVE):c.*968G>T
|
rs1700155137
|
|
NM_015040.4(PIKFYVE):c.-153A>T
|
rs1037223631
|
|
NM_015040.4(PIKFYVE):c.1140G>A (p.Thr380=)
|
rs750959225
|
|
NM_015040.4(PIKFYVE):c.1522G>C (p.Asp508His)
|
rs886055530
|
|
NM_015040.4(PIKFYVE):c.1928A>G (p.Gln643Arg)
|
rs886055532
|
|
NM_015040.4(PIKFYVE):c.2191-6A>T
|
rs758552809
|
|
NM_015040.4(PIKFYVE):c.235C>A (p.Leu79Ile)
|
rs1689715018
|
|
NM_015040.4(PIKFYVE):c.25C>T (p.Pro9Ser)
|
rs1689422489
|
|
NM_015040.4(PIKFYVE):c.2641C>A (p.Pro881Thr)
|
rs1338276014
|
|
NM_015040.4(PIKFYVE):c.2795T>C (p.Leu932Ser)
|
rs2363468
|
|
NM_015040.4(PIKFYVE):c.2873A>T (p.His958Leu)
|
rs371918240
|
|
NM_015040.4(PIKFYVE):c.2954A>G (p.Asp985Gly)
|
rs1346610853
|
|
NM_015040.4(PIKFYVE):c.2959C>T (p.Gln987Ter)
|
rs1559130873
|
|
NM_015040.4(PIKFYVE):c.2962C>T (p.Gln988Ter)
|
rs121918337
|
|
NM_015040.4(PIKFYVE):c.3122A>G (p.Tyr1041Cys)
|
rs886055533
|
|
NM_015040.4(PIKFYVE):c.3150dup (p.Asp1051fs)
|
rs869312464
|
|
NM_015040.4(PIKFYVE):c.3270C>G (p.Leu1090=)
|
rs766037305
|
|
NM_015040.4(PIKFYVE):c.3500C>G (p.Ser1167Ter)
|
rs780579562
|
|
NM_015040.4(PIKFYVE):c.4167_4170del (p.Glu1389fs)
|
rs387907335
|
|
NM_015040.4(PIKFYVE):c.4511G>A (p.Trp1504Ter)
|
rs2125682979
|
|
NM_015040.4(PIKFYVE):c.4607G>A (p.Ser1536Asn)
|
rs1698195187
|
|
NM_015040.4(PIKFYVE):c.4640A>G (p.Asn1547Ser)
|
rs1698393358
|
|
NM_015040.4(PIKFYVE):c.4958A>G (p.Tyr1653Cys)
|
rs886055534
|
|
NM_015040.4(PIKFYVE):c.5716-4T>C
|
rs1214631493
|
|
NM_015040.4(PIKFYVE):c.5727G>A (p.Ala1909=)
|
rs147789704
|
|
NM_015040.4(PIKFYVE):c.5727G>T (p.Ala1909=)
|
rs147789704
|
|
NM_015040.4(PIKFYVE):c.904C>T (p.Arg302Ter)
|
rs1195336213
|
|
NM_015040.4(PIKFYVE):c.935C>G (p.Ser312Ter)
|
rs2125298689
|
|
NM_015175.3(NBEAL2):c.7878+2T>A
|
|
|
NM_015719.4(COL5A3):c.4204A>C (p.Lys1402Gln)
|
rs777027146
|
|
NM_018699.3(PRDM5):c.-207G>A
|
rs879793284
|
|
NM_018699.3(PRDM5):c.-245C>G
|
rs886059047
|
|
NM_018699.3(PRDM5):c.946_1623del
|
|
|
NM_018699.4(PRDM5):c.*141T>C
|
rs886059040
|
|
NM_018699.4(PRDM5):c.1031-6dup
|
rs35363618
|
|
NM_018699.4(PRDM5):c.1036C>T (p.Arg346Ter)
|
|
|
NM_018699.4(PRDM5):c.1208C>G (p.Pro403Arg)
|
rs769647986
|
|
NM_018699.4(PRDM5):c.128G>C (p.Arg43Thr)
|
rs563401372
|
|
NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn)
|
rs759022476
|
|
NM_018699.4(PRDM5):c.1385G>C (p.Arg462Thr)
|
rs886059041
|
|
NM_018699.4(PRDM5):c.1513dup (p.Arg505fs)
|
|
|
NM_018699.4(PRDM5):c.1538-5T>G
|
rs1744464153
|
|
NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter)
|
rs755802156
|
|
NM_018699.4(PRDM5):c.1785_1786del (p.His595fs)
|
rs1734381962
|
|
NM_018699.4(PRDM5):c.17T>G (p.Val6Gly)
|
rs1725107158
|
|
NM_018699.4(PRDM5):c.1858del (p.His620fs)
|
rs1734373037
|
|
NM_018699.4(PRDM5):c.1887C>T (p.Asp629=)
|
rs376740879
|
|
NM_018699.4(PRDM5):c.237C>T (p.Ser79=)
|
rs374500219
|
|
NM_018699.4(PRDM5):c.36G>T (p.Leu12=)
|
rs755929725
|
|
NM_018699.4(PRDM5):c.392A>C (p.Glu131Ala)
|
rs886059044
|
|
NM_018699.4(PRDM5):c.44C>T (p.Ser15Phe)
|
|
|
NM_018699.4(PRDM5):c.475+2T>C
|
|
|
NM_018699.4(PRDM5):c.475+9T>A
|
rs1561379470
|
|
NM_018699.4(PRDM5):c.592G>C (p.Glu198Gln)
|
rs886059043
|
|
NM_018699.4(PRDM5):c.650+7A>T
|
rs751182540
|
|
NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter)
|
|
|
NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp)
|
|
|
NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser)
|
|
|
NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)
|
|
|
NM_018699.4(PRDM5):c.93+1G>A
|
rs1267369024
|
|
NM_018699.4(PRDM5):c.93+2T>C
|
rs1579259095
|
|
NM_018699.4(PRDM5):c.94-10T>G
|
rs886059045
|
|
NM_018699.4(PRDM5):c.946-9C>T
|
rs886059042
|
|
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG
|
rs886048180
|
|
NM_019040.5(ELP4):c.*1615A>C
|
rs1171230486
|
|
NM_019040.5(ELP4):c.*1626G>A
|
rs1269133831
|
|
NM_019040.5(ELP4):c.*1811A>C
|
rs185968715
|
|
NM_019040.5(ELP4):c.*2022_*2023del
|
rs777790874
|
|
NM_019040.5(ELP4):c.*2041C>G
|
rs544117348
|
|
NM_019040.5(ELP4):c.*2049A>G
|
rs886048181
|
|
NM_019040.5(ELP4):c.*2282G>A
|
rs886048182
|
|
NM_019040.5(ELP4):c.*2334T>G
|
rs886048183
|
|
NM_019040.5(ELP4):c.*2407C>A
|
rs886048184
|
|
NM_019040.5(ELP4):c.*2522G>T
|
rs1948594512
|
|
NM_019040.5(ELP4):c.*2710CA[2]
|
rs886048186
|
|
NM_019040.5(ELP4):c.*2992G>A
|
rs1948639449
|
|
NM_019040.5(ELP4):c.*3164_*3165insAAAA
|
rs34919147
|
|
NM_019040.5(ELP4):c.*3588A>G
|
rs906435505
|
|
NM_019040.5(ELP4):c.*3703_*3705del
|
rs886048189
|
|
NM_019040.5(ELP4):c.*3706T>A
|
rs1948715280
|
|
NM_019040.5(ELP4):c.*3715T>A
|
rs558836571
|
|
NM_019040.5(ELP4):c.*3772G>C
|
rs865924000
|
|
NM_019040.5(ELP4):c.*3978T>C
|
rs886048192
|
|
NM_019040.5(ELP4):c.*4017A>G
|
rs886048193
|
|
NM_019040.5(ELP4):c.*4025C>G
|
rs886048195
|
|
NM_019040.5(ELP4):c.*4056G>A
|
rs1948752515
|
|
NM_019040.5(ELP4):c.*4251G>A
|
rs3026396
|
|
NM_019040.5(ELP4):c.*4542G>T
|
rs1948792866
|
|
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)
|
rs797044824
|
|
NM_020533.3(MCOLN1):c.576C>A (p.Cys192Ter)
|
|
|
NM_021220.4(OVOL2):c.-274T>G
|
rs869320630
|
|
NM_021220.4(OVOL2):c.253G>C (p.Gly85Arg)
|
|
|
NM_021220.4(OVOL2):c.511+7G>A
|
rs1571431
|
|
NM_021615.5(CHST6):c.*1047G>T
|
rs77687996
|
|
NM_021615.5(CHST6):c.*1058G>A
|
rs137868909
|
|
NM_021615.5(CHST6):c.*1058G>T
|
rs137868909
|
|
NM_021615.5(CHST6):c.*1374C>T
|
rs564966292
|
|
NM_021615.5(CHST6):c.*1375G>A
|
rs116020927
|
|
NM_021615.5(CHST6):c.*1474C>G
|
rs886052309
|
|
NM_021615.5(CHST6):c.*1585G>T
|
rs886052308
|
|
NM_021615.5(CHST6):c.*1597T>G
|
rs866541400
|
|
NM_021615.5(CHST6):c.*1811G>A
|
rs577093724
|
|
NM_021615.5(CHST6):c.*1892del
|
rs35225560
|
|
NM_021615.5(CHST6):c.*2080del
|
rs36092135
|
|
NM_021615.5(CHST6):c.*242T>C
|
rs886052319
|
|
NM_021615.5(CHST6):c.*2433A>C
|
rs886052305
|
|
NM_021615.5(CHST6):c.*2437C>T
|
rs886052304
|
|
NM_021615.5(CHST6):c.*2450C>G
|
rs769668563
|
|
NM_021615.5(CHST6):c.*2902dup
|
rs886052302
|
|
NM_021615.5(CHST6):c.*3078G>A
|
rs375112875
|
|
NM_021615.5(CHST6):c.*3223CT[1]
|
rs5817947
|
|
NM_021615.5(CHST6):c.*3364C>A
|
rs189970730
|
|
NM_021615.5(CHST6):c.*33G>C
|
rs376468061
|
|
NM_021615.5(CHST6):c.*3643_*3644del
|
rs563605488
|
|
NM_021615.5(CHST6):c.*3656C>A
|
rs2080051726
|
|
NM_021615.5(CHST6):c.*3679T>C
|
rs886052299
|
|
NM_021615.5(CHST6):c.*3814C>G
|
rs552475714
|
|
NM_021615.5(CHST6):c.*3947C>T
|
rs564522593
|
|
NM_021615.5(CHST6):c.*3983G>A
|
rs1051764829
|
|
NM_021615.5(CHST6):c.*4290A>C
|
rs886052298
|
|
NM_021615.5(CHST6):c.*4460T>G
|
rs2080042971
|
|
NM_021615.5(CHST6):c.*4487C>T
|
rs182168641
|
|
NM_021615.5(CHST6):c.*4494G>C
|
rs2080042404
|
|
NM_021615.5(CHST6):c.*4573C>T
|
rs138466889
|
|
NM_021615.5(CHST6):c.*4574G>C
|
rs572586138
|
|
NM_021615.5(CHST6):c.*4605C>T
|
rs150105169
|
|
NM_021615.5(CHST6):c.*472G>C
|
rs886052318
|
|
NM_021615.5(CHST6):c.*4749G>T
|
rs184112375
|
|
NM_021615.5(CHST6):c.*488_*490del
|
rs886052317
|
|
NM_021615.5(CHST6):c.*4981C>T
|
rs532430246
|
|
NM_021615.5(CHST6):c.*5182C>G
|
rs1008334355
|
|
NM_021615.5(CHST6):c.*5183G>A
|
rs886052294
|
|
NM_021615.5(CHST6):c.*5190T>A
|
rs2080036320
|
|
NM_021615.5(CHST6):c.*5311T>C
|
rs2080035371
|
|
NM_021615.5(CHST6):c.*68G>T
|
rs968538456
|
|
NM_021615.5(CHST6):c.-66C>G
|
rs886052323
|
|
NM_021615.5(CHST6):c.1030C>T (p.Arg344Cys)
|
rs745660697
|
|
NM_021615.5(CHST6):c.1033G>A (p.Val345Met)
|
|
|
NM_021615.5(CHST6):c.1052_1059dup (p.Gln354fs)
|
|
|
NM_021615.5(CHST6):c.1071C>A (p.Gly357=)
|
|
|
NM_021615.5(CHST6):c.1096G>A (p.Glu366Lys)
|
rs369592422
|
|
NM_021615.5(CHST6):c.1132C>T (p.Arg378Ter)
|
|
|
NM_021615.5(CHST6):c.132G>A (p.Leu44=)
|
|
|
NM_021615.5(CHST6):c.14G>C (p.Arg5Pro)
|
rs1438351052
|
|
NM_021615.5(CHST6):c.196G>C (p.Val66Leu)
|
rs72547547
|
|
NM_021615.5(CHST6):c.211G>C (p.Glu71Gln)
|
rs999246452
|
|
NM_021615.5(CHST6):c.24C>T (p.Ser8=)
|
rs1461106668
|
|
NM_021615.5(CHST6):c.260C>T (p.Thr87Met)
|
|
|
NM_021615.5(CHST6):c.290_293dup (p.Val99fs)
|
|
|
NM_021615.5(CHST6):c.307G>A (p.Asp103Asn)
|
rs2151666243
|
|
NM_021615.5(CHST6):c.323A>T (p.Asp108Val)
|
|
|
NM_021615.5(CHST6):c.355G>C (p.Asp119His)
|
rs2080111143
|
|
NM_021615.5(CHST6):c.379C>T (p.Arg127Cys)
|
|
|
NM_021615.5(CHST6):c.400G>A (p.Ala134Thr)
|
rs745598168
|
|
NM_021615.5(CHST6):c.418C>T (p.Arg140Ter)
|
|
|
NM_021615.5(CHST6):c.464G>T (p.Arg155Leu)
|
|
|
NM_021615.5(CHST6):c.481G>C (p.Ala161Pro)
|
|
|
NM_021615.5(CHST6):c.484C>A (p.Arg162=)
|
rs117435647
|
|
NM_021615.5(CHST6):c.484C>G (p.Arg162Gly)
|
rs117435647
|
|
NM_021615.5(CHST6):c.485G>A (p.Arg162Gln)
|
|
|
NM_021615.5(CHST6):c.494_495delinsCT (p.Cys165Ser)
|
rs2080109094
|
|
NM_021615.5(CHST6):c.521A>G (p.Lys174Arg)
|
rs28937877
|
|
NM_021615.5(CHST6):c.522G>A (p.Lys174=)
|
|
|
NM_021615.5(CHST6):c.532T>G (p.Phe178Val)
|
rs1567409280
|
|
NM_021615.5(CHST6):c.573C>G (p.Pro191=)
|
rs1044185449
|
|
NM_021615.5(CHST6):c.573dup (p.Ala192fs)
|
|
|
NM_021615.5(CHST6):c.601_621del (p.Val201_Val207del)
|
|
|
NM_021615.5(CHST6):c.609C>A (p.Asp203Glu)
|
rs28937878
|
|
NM_021615.5(CHST6):c.625C>T (p.Arg209Cys)
|
|
|
NM_021615.5(CHST6):c.631C>T (p.Arg211Trp)
|
|
|
NM_021615.5(CHST6):c.632G>A (p.Arg211Gln)
|
|
|
NM_021615.5(CHST6):c.6_7delinsAA (p.Trp2_Leu3delinsTer)
|
|
|
NM_021615.5(CHST6):c.713G>A (p.Gly238Asp)
|
|
|
NM_021615.5(CHST6):c.718C>A (p.Arg240Ser)
|
rs547928453
|
|
NM_021615.5(CHST6):c.729C>T (p.Arg243=)
|
rs916401556
|
|
NM_021615.5(CHST6):c.7C>A (p.Leu3Met)
|
rs780317850
|
|
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter)
|
rs2151665554
|
|
NM_021615.5(CHST6):c.86C>T (p.Pro29Leu)
|
rs1443299574
|
|
NM_021615.5(CHST6):c.912T>C (p.His304=)
|
|
|
NM_021615.5(CHST6):c.949G>C (p.Glu317Gln)
|
|
|
NM_021615.5(CHST6):c.987C>T (p.Val329=)
|
rs369751938
|
|
NM_021615.5(CHST6):c.992A>G (p.Gln331Arg)
|
|
|
NM_024915.4(GRHL2):c.1723G>A (p.Val575Met)
|
rs370196002
|
|
NM_024915.4(GRHL2):c.20+133del
|
rs1554579819
|
|
NM_024915.4(GRHL2):c.20+257del
|
rs1554579832
|
|
NM_024915.4(GRHL2):c.20+544G>T
|
rs1554579878
|
|
NM_033004.4(NLRP1):c.160G>A (p.Ala54Thr)
|
rs1057519492
|
|
NM_033004.4(NLRP1):c.197C>T (p.Ala66Val)
|
rs1057519493
|
|
NM_033004.4(NLRP1):c.2043G>T (p.Glu681Asp)
|
rs146030920
|
|
NM_033004.4(NLRP1):c.230T>C (p.Met77Thr)
|
rs397514692
|
|
NM_033004.4(NLRP1):c.4181C>A (p.Thr1394Lys)
|
rs1597390369
|
|
NM_033004.4(NLRP1):c.922C>T (p.Arg308Ter)
|
rs758319723
|
|
NM_057088.3(KRT3):c.130_131delinsAC (p.Gly44Thr)
|
rs1939636114
|
|
NM_057088.3(KRT3):c.1492G>A (p.Glu498Lys)
|
rs2121217835
|
|
NM_057088.3(KRT3):c.1493A>T (p.Glu498Val)
|
rs267607431
|
|
NM_057088.3(KRT3):c.1508G>C (p.Arg503Pro)
|
rs60410063
|
|
NM_057088.3(KRT3):c.1527G>T (p.Glu509Asp)
|
|
|
NM_080386.4(TUBA3D):c.200_201dup (p.Val68fs)
|
rs756938019
|
|
NM_080386.4(TUBA3D):c.31C>T (p.Gln11Ter)
|
rs1553500862
|
|
NM_145314.3(UCMA):c.413C>G (p.Thr138Ser)
|
|
|
NM_152336.4(AGBL1):c.3323+1G>A
|
rs79072327
|
|
NM_153427.2(PITX2):c.-1078C>A
|
rs1309981396
|
|
NM_153427.2(PITX2):c.-1209C>T
|
rs563409386
|
|
NM_153427.2(PITX2):c.-1532C>A
|
rs117231596
|
|
NM_153427.2(PITX2):c.-245G>A
|
rs1729676876
|
|
NM_153427.2(PITX2):c.-300A>T
|
rs1188264847
|
|
NM_153427.2(PITX2):c.-429C>G
|
rs985015612
|
|
NM_153427.2(PITX2):c.-485C>G
|
rs2739200
|
|
NM_153427.2(PITX2):c.-515C>T
|
rs904945318
|
|
NM_153427.2(PITX2):c.-670C>T
|
rs1017565030
|
|
NM_173165.3(NFATC3):c.1922G>A (p.Arg641Gln)
|
rs772345934
|
|
NM_198252.3(GSN):c.*28G>A
|
rs376801564
|
|
NM_198252.3(GSN):c.-4C>G
|
rs2059919681
|
|
NM_198252.3(GSN):c.-9-1942G>A
|
rs1268467289
|
|
NM_198252.3(GSN):c.-9-1987dup
|
|
|
NM_198252.3(GSN):c.-9-1999_-9-1985del
|
rs751499422
|
|
NM_198252.3(GSN):c.-9-2043C>G
|
rs1202263036
|
|
NM_198252.3(GSN):c.-9-2057_-9-2037del
|
rs762432847
|
|
NM_198252.3(GSN):c.-9-2057_-9-2037dup
|
rs762432847
|
|
NM_198252.3(GSN):c.-9-2058_-9-2047dup
|
rs1371504521
|
|
NM_198252.3(GSN):c.-9-2066_-9-2060del
|
rs1564468965
|
|
NM_198252.3(GSN):c.-9-2091_-9-2064del
|
rs764841269
|
|
NM_198252.3(GSN):c.-9-2137C>T
|
rs886063404
|
|
NM_198252.3(GSN):c.1171G>A (p.Asp391Asn)
|
rs142034230
|
|
NM_198252.3(GSN):c.1267T>C (p.Tyr423His)
|
|
|
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg)
|
rs2062427908
|
|
NM_198252.3(GSN):c.1326-1036C>T
|
|
|
NM_198252.3(GSN):c.1547A>G (p.Gln516Arg)
|
rs780840732
|
|
NM_198252.3(GSN):c.1577G>A (p.Arg526Gln)
|
rs528604896
|
|
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys)
|
rs2063220897
|
|
NM_198252.3(GSN):c.162C>G (p.Asn54Lys)
|
rs146365204
|
|
NM_198252.3(GSN):c.1657C>G (p.Leu553Val)
|
rs2063344146
|
|
NM_198252.3(GSN):c.1762+19G>A
|
rs1274106245
|
|
NM_198252.3(GSN):c.1762+20del
|
rs895358104
|
|
NM_198252.3(GSN):c.1850G>A (p.Arg617His)
|
rs9696578
|
|
NM_198252.3(GSN):c.1887+11G>T
|
rs147527479
|
|
NM_198252.3(GSN):c.1915C>T (p.Gln639Ter)
|
rs2133938132
|
|
NM_198252.3(GSN):c.2002G>A (p.Glu668Lys)
|
rs886063407
|
|
NM_198252.3(GSN):c.2137del (p.Asp713fs)
|
rs750858951
|
|
NM_198252.3(GSN):c.231C>A (p.Ala77=)
|
rs140734150
|
|
NM_198252.3(GSN):c.272G>A (p.Arg91Gln)
|
rs138153246
|
|
NM_198252.3(GSN):c.397G>A (p.Val133Met)
|
rs368197143
|
|
NM_198252.3(GSN):c.397G>T (p.Val133Leu)
|
rs368197143
|
|
NM_198252.3(GSN):c.440T>C (p.Val147Ala)
|
rs2061027102
|
|
NM_198252.3(GSN):c.484G>A (p.Gly162Ser)
|
rs1355688870
|
|
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr)
|
rs121909715
|
|
NM_198252.3(GSN):c.509G>C (p.Gly170Ala)
|
rs2061035565
|
|
NM_198252.3(GSN):c.761A>G (p.Asn254Ser)
|
rs756193920
|
|
NM_198252.3(GSN):c.886+19G>A
|
rs200255784
|
|
NM_198252.3(GSN):c.914A>G (p.Lys305Arg)
|
rs2061970047
|
|
NM_198252.3(GSN):c.997G>A (p.Gly333Ser)
|
rs751431867
|
|
NM_198252.3(GSN):c.998G>T (p.Gly333Val)
|
rs1014328091
|
|
NM_207352.4(CYP4V2):c.*1027C>T
|
rs541778964
|
|
NM_207352.4(CYP4V2):c.*1052A>T
|
rs961919705
|
|
NM_207352.4(CYP4V2):c.*1317T>C
|
rs886059291
|
|
NM_207352.4(CYP4V2):c.*1496G>C
|
rs1736743651
|
|
NM_207352.4(CYP4V2):c.*1705C>T
|
rs1736750061
|
|
NM_207352.4(CYP4V2):c.*1722T>C
|
rs1736750645
|
|
NM_207352.4(CYP4V2):c.*198A>T
|
rs150697121
|
|
NM_207352.4(CYP4V2):c.*204T>C
|
rs577711483
|
|
NM_207352.4(CYP4V2):c.*2116A>C
|
rs1736768091
|
|
NM_207352.4(CYP4V2):c.*2751A>G
|
rs963988307
|
|
NM_207352.4(CYP4V2):c.*364T>A
|
rs7697077
|
|
NM_207352.4(CYP4V2):c.*364T>G
|
rs7697077
|
|
NM_207352.4(CYP4V2):c.*449C>T
|
rs1736705065
|
|
NM_207352.4(CYP4V2):c.*636A>G
|
rs1736711167
|
|
NM_207352.4(CYP4V2):c.*659A>G
|
rs886059284
|
|
NM_207352.4(CYP4V2):c.*829C>T
|
rs886059285
|
|
NM_207352.4(CYP4V2):c.*836C>A
|
rs535179510
|
|
NM_207352.4(CYP4V2):c.*888G>A
|
rs769774997
|
|
NM_207352.4(CYP4V2):c.*999C>T
|
rs556923527
|
|
NM_207352.4(CYP4V2):c.-133G>T
|
rs562885669
|
|
NM_207352.4(CYP4V2):c.-199C>T
|
rs886059278
|
|
NM_207352.4(CYP4V2):c.-56C>G
|
rs886059280
|
|
NM_207352.4(CYP4V2):c.1062A>G (p.Lys354=)
|
rs1736463662
|
|
NM_207352.4(CYP4V2):c.1091-15A>G
|
rs1300763823
|
|
NM_207352.4(CYP4V2):c.1225+14A>G
|
rs886059282
|
|
NM_207352.4(CYP4V2):c.1338C>G (p.Pro446=)
|
rs35524919
|
|
NM_207352.4(CYP4V2):c.1338C>T (p.Pro446=)
|
rs35524919
|
|
NM_207352.4(CYP4V2):c.841G>A (p.Asp281Asn)
|
rs913510827
|
|
NM_207352.4(CYP4V2):c.987+7T>C
|
rs1736302352
|
|
NT_113889.1:g.54175G>A
|
|
|