ClinVar Miner

List of variants studied for corneal disorder

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2827
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HGVS dbSNP gnomAD frequency
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

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