ClinVar Miner

List of variants studied for corneal dystrophy

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1476
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HGVS dbSNP gnomAD frequency
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_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_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_198252.3(GSN):c.1417-22T>C rs306769 0.85170
NM_000494.4(COL17A1):c.1282G>A (p.Gly428Ser) rs805698 0.84905
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_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_019040.5(ELP4):c.*2452C>T rs3026401 0.70691
NM_015040.4(PIKFYVE):c.5334G>A (p.Thr1778=) rs2304545 0.70349
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_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_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_001174089.2(SLC4A11):c.433A>C (p.Arg145=) rs3827075 0.49054
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_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_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_000358.3(TGFBI):c.651G>C (p.Leu217=) rs1442 0.36069
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_014588.6(VSX1):c.546A>G (p.Ala182=) rs12480307 0.29623
NM_000223.4(KRT12):c.43C>T (p.Pro15Ser) rs11650915 0.28816
NM_000494.4(COL17A1):c.4109A>G (p.Asp1370Gly) rs17116350 0.28157
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_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_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_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_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_002353.3(TACSTD2):c.*421A>G rs9583 0.12260
NM_002353.3(TACSTD2):c.518A>C (p.Asp173Ala) rs35075952 0.12227
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_001174089.2(SLC4A11):c.1611C>T (p.Asn537=) rs41281860 0.09317
NM_001174089.2(SLC4A11):c.1341G>A (p.Thr447=) rs6084312 0.08722
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_014588.6(VSX1):c.18G>T (p.Ser6=) rs8123716 0.06535
NM_001174089.2(SLC4A11):c.2193-4G>A rs10048856 0.06274
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_019040.5(ELP4):c.*2114C>G rs16922475 0.05615
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_207352.4(CYP4V2):c.823G>A (p.Glu275Lys) rs34745240 0.03921
NM_002353.3(TACSTD2):c.828C>T (p.Gly276=) rs12121124 0.03674
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_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_013319.3(UBIAD1):c.*148A>G rs11580061 0.02447
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_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_013319.3(UBIAD1):c.*1060G>A rs115210853 0.01873
NM_001920.5(DCN):c.282C>T (p.Thr94=) rs3138221 0.01829
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_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_021615.5(CHST6):c.258A>C (p.Ala86=) rs61740901 0.01353
NM_021615.5(CHST6):c.*5441C>T rs74742116 0.01333
NM_014588.6(VSX1):c.339C>T (p.Gly113=) rs6037016 0.01324
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_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_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_001174089.2(SLC4A11):c.*225C>T rs77978636 0.01139
NM_207352.4(CYP4V2):c.-128A>G rs531909464 0.01113
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_000358.3(TGFBI):c.*458G>A rs7854 0.01047
NM_021615.5(CHST6):c.*2955C>T rs76087215 0.01047
NM_021615.5(CHST6):c.120C>T (p.Arg40=) rs61740904 0.01016
NM_013319.3(UBIAD1):c.-195G>A rs114907127 0.00966
NM_207352.4(CYP4V2):c.*1053C>T rs62348765 0.00964
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_019040.5(ELP4):c.*3851C>T rs141344418 0.00935
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_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_198252.3(GSN):c.513+19T>C rs79969850 0.00853
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_001368894.2(PAX6):c.*417C>T rs55756603 0.00810
NM_001368894.2(PAX6):c.-180A>G rs75563367 0.00766
NM_015040.4(PIKFYVE):c.*1098A>G rs147936107 0.00759
NM_021615.5(CHST6):c.*3883T>G rs138114811 0.00736
NM_019040.5(ELP4):c.*4172A>C rs73477658 0.00701
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_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_001920.5(DCN):c.424A>G (p.Lys142Glu) rs142752401 0.00605
NM_021615.5(CHST6):c.*2833T>G rs149981556 0.00595
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_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_001920.5(DCN):c.33A>G (p.Ala11=) rs141738168 0.00477
NM_014588.6(VSX1):c.*104C>T rs148709299 0.00467
NM_001174089.2(SLC4A11):c.426C>T (p.Arg142=) rs35262978 0.00466
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_001920.4(DCN):c.-325A>G rs147956869 0.00432
NM_015040.4(PIKFYVE):c.*78T>C rs115754381 0.00425
NM_014588.5(VSX1):c.-197G>A rs116022495 0.00408
NM_000358.3(TGFBI):c.2012-5T>C rs147650812 0.00405
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_198252.3(GSN):c.1680C>T (p.Ser560=) rs73660439 0.00379
NM_198252.3(GSN):c.664-4A>G rs143590302 0.00376
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_021615.5(CHST6):c.*2426T>C rs142614349 0.00365
NM_021615.5(CHST6):c.*3465T>C rs76471046 0.00364
NM_198252.3(GSN):c.1850G>T (p.Arg617Leu) rs9696578 0.00359
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys) rs116185403 0.00357
NM_001174089.2(SLC4A11):c.1169-12G>A rs200921422 0.00346
NM_013319.3(UBIAD1):c.867C>T (p.Thr289=) rs113307594 0.00340
NM_207352.4(CYP4V2):c.*1023T>C rs62348764 0.00326
NM_033004.4(NLRP1):c.316G>A (p.Gly106Arg) rs72827640 0.00324
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_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_000358.3(TGFBI):c.134+14C>A rs529657143 0.00294
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_015040.4(PIKFYVE):c.4814T>G (p.Val1605Gly) rs61752191 0.00271
NM_207352.4(CYP4V2):c.*160A>G rs187506967 0.00263
NM_021615.5(CHST6):c.*1914A>G rs143764747 0.00259
NM_198252.3(GSN):c.597C>T (p.Asn199=) rs146329975 0.00258
NM_021615.5(CHST6):c.*3917G>A rs180746384 0.00250
NM_021615.5(CHST6):c.237C>T (p.Thr79=) rs112148613 0.00247
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_001920.5(DCN):c.212-6T>C rs191218249 0.00230
NM_015040.4(PIKFYVE):c.6060G>A (p.Leu2020=) rs146239645 0.00228
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_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_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp) rs185919705 0.00200
NM_019040.5(ELP4):c.*4932G>A rs181818313 0.00198
NM_019040.5(ELP4):c.*2040G>C rs183115097 0.00194
NM_021615.5(CHST6):c.*4291T>C rs72789420 0.00194
NM_207352.4(CYP4V2):c.*2590T>C rs532291947 0.00191
NM_001368894.2(PAX6):c.*357A>T rs774473337 0.00189
NM_019040.5(ELP4):c.*3904G>A rs3026397 0.00189
NM_015040.4(PIKFYVE):c.*615T>A rs182741783 0.00187
NM_014588.6(VSX1):c.*199G>A rs145201675 0.00178
NM_013319.3(UBIAD1):c.452A>G (p.Tyr151Cys) rs138443305 0.00176
NM_198252.3(GSN):c.186C>T (p.His62=) rs144551136 0.00175
NM_001330349.2(UBIAD1):c.618+2704C>T rs573522173 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_013319.3(UBIAD1):c.*18C>T rs191663672 0.00162
NM_198252.3(GSN):c.886+19G>T rs200255784 0.00159
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_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp) rs138137682 0.00140
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_002353.3(TACSTD2):c.*281A>C rs181672295 0.00134
NM_015040.4(PIKFYVE):c.5343G>A (p.Glu1781=) rs140774753 0.00134
NM_015040.4(PIKFYVE):c.*2693A>G rs564043919 0.00126
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_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_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_021615.5(CHST6):c.*1810C>T rs111307793 0.00107
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_198252.3(GSN):c.1225G>A (p.Val409Met) rs140042418 0.00103
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_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_019040.5(ELP4):c.*2525C>A rs183433948 0.00096
NM_207352.4(CYP4V2):c.*715C>T rs770372165 0.00096
NM_001920.5(DCN):c.*148T>G rs564091657 0.00091
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_198252.3(GSN):c.1637A>G (p.Lys546Arg) rs184844415 0.00086
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_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_001920.4(DCN):c.-249A>G rs189853358 0.00078
NM_013319.3(UBIAD1):c.-104G>A rs559993089 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_015040.4(PIKFYVE):c.2331+12T>A rs188586992 0.00075
NM_001174089.2(SLC4A11):c.1704G>A (p.Thr568=) rs147324566 0.00073
NM_014588.6(VSX1):c.628-4C>T rs181156458 0.00073
NM_207352.4(CYP4V2):c.*1589C>T rs144839540 0.00071
NM_015040.4(PIKFYVE):c.*729T>C rs144852130 0.00070
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_021615.5(CHST6):c.*3441A>T rs529530566 0.00066
NM_001174089.2(SLC4A11):c.1779C>T (p.Ser593=) rs62208067 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_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_015040.4(PIKFYVE):c.3459C>T (p.Ala1153=) rs147976705 0.00054
NM_021615.5(CHST6):c.1043T>G (p.Leu348Arg) rs189849720 0.00054
NM_207352.4(CYP4V2):c.*1737A>G rs78965616 0.00053
NM_001083962.2(TCF4):c.*5-10C>T rs552239655 0.00052
NM_207352.4(CYP4V2):c.*232G>A rs145900260 0.00052
NM_000358.3(TGFBI):c.895G>A (p.Asp299Asn) rs202239395 0.00051
NM_021615.5(CHST6):c.1006G>A (p.Ala336Thr) rs79173362 0.00051
NM_013319.3(UBIAD1):c.*612T>C rs886045071 0.00050
NM_019040.5(ELP4):c.*3523del rs886048188 0.00050
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_021615.5(CHST6):c.1124T>G (p.Val375Gly) rs142097284 0.00046
NM_002353.3(TACSTD2):c.899G>A (p.Arg300Gln) rs142263208 0.00044
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_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_000494.4(COL17A1):c.3739C>T (p.Arg1247Trp) rs144220426 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_033004.4(NLRP1):c.272-7C>G rs202080927 0.00036
NM_000358.3(TGFBI):c.*462C>G rs925448179 0.00035
NM_000358.3(TGFBI):c.1540C>T (p.Arg514Cys) rs200065806 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_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_198252.3(GSN):c.1513G>A (p.Gly505Arg) rs58750568 0.00033
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_001368894.2(PAX6):c.*841C>T rs530931929 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_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_019040.5(ELP4):c.*1783T>G rs140971065 0.00030
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_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_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_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_014588.6(VSX1):c.497G>A (p.Arg166Gln) rs150297220 0.00024
NM_019040.5(ELP4):c.*4571A>G rs1029065786 0.00024
NM_207352.4(CYP4V2):c.*2266A>G rs934968593 0.00024
NM_000494.4(COL17A1):c.4081G>A (p.Gly1361Arg) rs143021968 0.00023
NM_001174089.2(SLC4A11):c.*27C>T rs148132505 0.00023
NM_000358.3(TGFBI):c.968C>T (p.Ala323Val) rs201210696 0.00022
NM_015040.4(PIKFYVE):c.-157A>T rs886055529 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_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_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_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_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_198252.3(GSN):c.1421G>A (p.Arg474His) rs142828669 0.00019
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_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_001920.5(DCN):c.*80C>T rs531541570 0.00016
NM_001920.5(DCN):c.529A>T (p.Ile177Phe) rs201430261 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_198252.3(GSN):c.1727C>G (p.Ala576Gly) rs567372749 0.00016
NM_198252.3(GSN):c.754-11C>T rs374057474 0.00016
NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln) rs121912771 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_001174089.2(SLC4A11):c.370G>A (p.Val124Ile) rs148613811 0.00014
NM_001920.5(DCN):c.621T>G (p.Ile207Met) rs373676217 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_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_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_001920.5(DCN):c.671C>T (p.Thr224Met) rs144174426 0.00012
NM_014588.6(VSX1):c.717G>A (p.Gly239=) rs141410824 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_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_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_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_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_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_001174089.2(SLC4A11):c.1929C>T (p.Ser643=) rs533752647 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_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_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_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_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_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_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_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_001368894.2(PAX6):c.*90A>C rs572377074 0.00006
NM_001368894.2(PAX6):c.-368G>A rs886048206 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_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_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_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_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_001920.5(DCN):c.*354A>G rs778805558 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_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_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_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_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_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_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_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_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_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_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_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_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_001368894.2(PAX6):c.-316-8C>G rs566281941 0.00002
NM_001368894.2(PAX6):c.-430G>C rs886048207 0.00002
NM_001386094.1(AGBL1):c.985A>T (p.Thr329Ser) rs745458688 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_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_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_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_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_001083962.2(TCF4):c.550-22780G>A rs962581774 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_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.317G>A (p.Arg106Gln) rs769095184 0.00001
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met) rs1159095794 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_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_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_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_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
NC_000016.9:g.(?_74748068)_(75513746_?)del
NG_011716.2:g.54765TGC[51_?]
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_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_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_001033053.2(NLRP1):c.2358-?_2528+?del
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_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_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_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.-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.1221A>C (p.Ser407=) rs1949622831
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001368894.2(PAX6):c.184-8C>T rs886048203
NM_001368894.2(PAX6):c.219G>A (p.Arg73=) rs1953969921
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile) rs371018133
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser) rs1953501315
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del) rs747077748
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) rs886048202
NM_001368894.2(PAX6):c.690C>T (p.Ser230=) rs373715028
NM_001368894.2(PAX6):c.81G>A (p.Gln27=) rs1954524676
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222
NM_001368894.2(PAX6):c.885A>G (p.Thr295=) rs1592415376
NM_001368894.2(PAX6):c.959-2A>T rs587776571
NM_001386094.1(AGBL1):c.785A>C (p.Gln262Pro)
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_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_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_005993.5(TBCD):c.2137C>G (p.His713Asp) rs200903034
NM_006793.5(PRDX3):c.568G>C (p.Asp190His) rs2133650052
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_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_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.*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_152336.4(AGBL1):c.3323+1G>A rs79072327
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

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