NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=)
|
rs3827075
|
0.49054
|
NM_000358.3(TGFBI):c.*537T>G
|
rs4572
|
0.33766
|
NM_207352.4(CYP4V2):c.*1057T>C
|
rs62348766
|
0.02979
|
NM_207352.4(CYP4V2):c.*1474G>T
|
rs77175303
|
0.01464
|
NM_207352.4(CYP4V2):c.*1053C>T
|
rs62348765
|
0.00964
|
NM_001368894.2(PAX6):c.*356T>A
|
rs774392481
|
0.00945
|
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_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro)
|
rs118020901
|
0.00680
|
NM_001174089.2(SLC4A11):c.2061C>T (p.Leu687=)
|
rs140461431
|
0.00580
|
NM_207352.4(CYP4V2):c.*4T>C
|
rs76978024
|
0.00479
|
NM_001174089.2(SLC4A11):c.426C>T (p.Arg142=)
|
rs35262978
|
0.00466
|
NM_001174089.2(SLC4A11):c.1167C>T (p.Ile389=)
|
rs78274653
|
0.00393
|
NM_001174089.2(SLC4A11):c.1169-12G>A
|
rs200921422
|
0.00346
|
NM_207352.4(CYP4V2):c.*1023T>C
|
rs62348764
|
0.00326
|
NM_001174089.2(SLC4A11):c.1722C>G (p.Thr574=)
|
rs144123179
|
0.00316
|
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln)
|
rs72646291
|
0.00306
|
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr)
|
rs61745524
|
0.00299
|
NM_000358.3(TGFBI):c.134+14C>A
|
rs529657143
|
0.00294
|
NM_207352.4(CYP4V2):c.*160A>G
|
rs187506967
|
0.00263
|
NM_207352.4(CYP4V2):c.*392G>A
|
rs185369023
|
0.00239
|
NM_001174089.2(SLC4A11):c.*109C>T
|
rs143751993
|
0.00238
|
NM_001174089.2(SLC4A11):c.1043-10C>T
|
rs201799793
|
0.00219
|
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp)
|
rs185919705
|
0.00200
|
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_015040.4(PIKFYVE):c.*615T>A
|
rs182741783
|
0.00187
|
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_207352.4(CYP4V2):c.*175A>G
|
rs192122143
|
0.00158
|
NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp)
|
rs138137682
|
0.00140
|
NM_002353.3(TACSTD2):c.*281A>C
|
rs181672295
|
0.00134
|
NM_207352.4(CYP4V2):c.*1463G>C
|
rs549421198
|
0.00123
|
NM_001174089.2(SLC4A11):c.*323C>T
|
rs148964021
|
0.00118
|
NM_207352.4(CYP4V2):c.*1159T>A
|
rs565805219
|
0.00111
|
NM_014588.5(VSX1):c.-244G>T
|
rs567067551
|
0.00108
|
NM_021615.5(CHST6):c.*1810C>T
|
rs111307793
|
0.00107
|
NM_000358.3(TGFBI):c.1998G>C (p.Arg666Ser)
|
rs121909217
|
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_001174089.2(SLC4A11):c.2193G>C (p.Thr731=)
|
rs149912717
|
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_014588.6(VSX1):c.173C>T (p.Pro58Leu)
|
rs369865672
|
0.00087
|
NM_015040.4(PIKFYVE):c.*1090A>G
|
rs41305981
|
0.00086
|
NM_207352.4(CYP4V2):c.*2078T>C
|
rs531522779
|
0.00084
|
NM_002353.3(TACSTD2):c.*94G>A
|
rs182546579
|
0.00079
|
NM_013319.3(UBIAD1):c.-104G>A
|
rs559993089
|
0.00077
|
NM_207352.4(CYP4V2):c.24C>T (p.Leu8=)
|
rs202148693
|
0.00077
|
NM_001174089.2(SLC4A11):c.1704G>A (p.Thr568=)
|
rs147324566
|
0.00073
|
NM_207352.4(CYP4V2):c.*1589C>T
|
rs144839540
|
0.00071
|
NM_015040.4(PIKFYVE):c.*729T>C
|
rs144852130
|
0.00070
|
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_198252.3(GSN):c.*185G>A
|
rs757682798
|
0.00065
|
NM_000358.3(TGFBI):c.1083C>T (p.Asn361=)
|
rs199645034
|
0.00064
|
NM_001174089.2(SLC4A11):c.1572C>T (p.Leu524=)
|
rs201595005
|
0.00063
|
NM_002353.3(TACSTD2):c.-56C>G
|
rs774270086
|
0.00061
|
NM_000358.3(TGFBI):c.678C>T (p.Asn226=)
|
rs369362360
|
0.00057
|
NM_000358.3(TGFBI):c.141C>T (p.Asn47=)
|
rs368854767
|
0.00056
|
NM_021615.5(CHST6):c.1043T>G (p.Leu348Arg)
|
rs189849720
|
0.00054
|
NM_207352.4(CYP4V2):c.*1737A>G
|
rs78965616
|
0.00053
|
NM_207352.4(CYP4V2):c.*232G>A
|
rs145900260
|
0.00052
|
NM_000358.3(TGFBI):c.895G>A (p.Asp299Asn)
|
rs202239395
|
0.00051
|
NM_013319.3(UBIAD1):c.*612T>C
|
rs886045071
|
0.00050
|
NM_019040.5(ELP4):c.*3523del
|
rs886048188
|
0.00050
|
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_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_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_000358.3(TGFBI):c.*462C>G
|
rs925448179
|
0.00035
|
NM_000358.3(TGFBI):c.1540C>T (p.Arg514Cys)
|
rs200065806
|
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_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_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_013319.3(UBIAD1):c.*295G>A
|
rs904203949
|
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_021615.5(CHST6):c.*4586T>C
|
rs535487354
|
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_021615.5(CHST6):c.1181G>A (p.Arg394Gln)
|
rs139042144
|
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_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_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_021615.5(CHST6):c.*4238A>G
|
rs570273277
|
0.00021
|
NM_198252.3(GSN):c.*98T>A
|
rs903037306
|
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.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_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_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_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_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_024915.4(GRHL2):c.548G>A (p.Arg183Gln)
|
rs142411476
|
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.*5150G>A
|
rs777374430
|
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_198252.3(GSN):c.1190A>G (p.Gln397Arg)
|
rs368537807
|
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_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_000358.3(TGFBI):c.*40C>T
|
rs376033284
|
0.00010
|
NM_000358.3(TGFBI):c.2005C>T (p.Arg669Ter)
|
rs201554996
|
0.00010
|
NM_001174089.2(SLC4A11):c.789C>T (p.Ile263=)
|
rs367721824
|
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_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_021615.5(CHST6):c.*2055del
|
rs886052307
|
0.00009
|
NM_021615.5(CHST6):c.15C>T (p.Arg5=)
|
rs762744897
|
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.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_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_019040.5(ELP4):c.*2502G>A
|
rs886048185
|
0.00007
|
NM_021615.5(CHST6):c.496C>G (p.Arg166Gly)
|
rs141965945
|
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.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_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.*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.1420C>T (p.Arg474Cys)
|
rs138341672
|
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.1339G>A (p.Glu447Lys)
|
rs200623218
|
0.00006
|
NM_000358.3(TGFBI):c.1631A>G (p.Asn544Ser)
|
rs777288957
|
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_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_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_001920.5(DCN):c.*220G>C
|
rs886049890
|
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_014588.6(VSX1):c.*169G>A
|
rs1437204062
|
0.00004
|
NM_014588.6(VSX1):c.*64G>T
|
rs908641940
|
0.00004
|
NM_015040.4(PIKFYVE):c.4567G>A (p.Val1523Ile)
|
rs368783060
|
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.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.1444G>A (p.Ala482Thr)
|
rs375902120
|
0.00004
|
NM_198252.3(GSN):c.1576C>T (p.Arg526Trp)
|
rs1220983184
|
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.7G>T (p.Val3Leu)
|
rs138068754
|
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.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.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_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.*777A>G
|
rs886055539
|
0.00003
|
NM_015040.4(PIKFYVE):c.1711C>T (p.Arg571Cys)
|
rs771948901
|
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.392C>T (p.Ser131Leu)
|
rs375059043
|
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.1553G>A (p.Arg518His)
|
rs769400986
|
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_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.-430G>C
|
rs886048207
|
0.00002
|
NM_001386094.1(AGBL1):c.985A>T (p.Thr329Ser)
|
rs745458688
|
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_021615.5(CHST6):c.*1031A>G
|
rs886052312
|
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.539A>G (p.Asn180Ser)
|
rs773164615
|
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.228G>A (p.Ala76=)
|
rs761824852
|
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.*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.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_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.1347G>A (p.Leu449=)
|
rs766711908
|
0.00001
|
NM_001174089.2(SLC4A11):c.1489+8C>T
|
rs760670114
|
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.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.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_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.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.*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.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.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.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.*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.518T>C (p.Leu173Pro)
|
rs763075517
|
0.00001
|
NM_021615.5(CHST6):c.708C>T (p.Asp236=)
|
rs779128434
|
0.00001
|
NM_021615.5(CHST6):c.857C>T (p.Ala286Val)
|
rs751949248
|
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.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.1690A>G (p.Lys564Glu)
|
rs368207411
|
0.00001
|
NM_198252.3(GSN):c.1762G>T (p.Asp588Tyr)
|
rs757684181
|
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.322G>A (p.Gly108Ser)
|
rs367933536
|
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
|
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.988G>T (p.Glu330Ter)
|
|
|
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.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>T (p.Pro501Ser)
|
rs121909212
|
|
NM_000358.3(TGFBI):c.1504A>G (p.Met502Val)
|
rs188677757
|
|
NM_000358.3(TGFBI):c.1611C>T (p.Tyr537=)
|
rs1751639731
|
|
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.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.2011G>A (p.Gly671Ser)
|
|
|
NM_000494.4(COL17A1):c.3071-5G>A
|
rs370589324
|
|
NM_000494.4(COL17A1):c.4142C>T (p.Ser1381Leu)
|
rs2086242885
|
|
NM_001083962.2(TCF4):c.-21+2T>A
|
rs1568471128
|
|
NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser)
|
rs755332116
|
|
NM_001083962.2(TCF4):c.785G>A (p.Arg262His)
|
rs1555796645
|
|
NM_001174089.2(SLC4A11):c.1391G>T (p.Ser464Ile)
|
|
|
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.2058C>T (p.Leu686=)
|
rs141079217
|
|
NM_001174089.2(SLC4A11):c.20G>T (p.Arg7Leu)
|
rs2068078358
|
|
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.2554A>G (p.Ile852Val)
|
rs886056631
|
|
NM_001174089.2(SLC4A11):c.291+3G>A
|
rs2067904587
|
|
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.44-24G>C
|
rs747573446
|
|
NM_001174089.2(SLC4A11):c.515G>A (p.Arg172Gln)
|
rs149016022
|
|
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe)
|
rs2122588507
|
|
NM_001174089.2(SLC4A11):c.691G>A (p.Val231Ile)
|
rs886056633
|
|
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.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.885A>G (p.Thr295=)
|
rs1592415376
|
|
NM_001386094.1(AGBL1):c.785A>C (p.Gln262Pro)
|
|
|
NM_001920.5(DCN):c.*289A>T
|
rs886049889
|
|
NM_001920.5(DCN):c.*341A>G
|
rs1880967544
|
|
NM_001920.5(DCN):c.*443T>G
|
rs886049888
|
|
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_002353.2(TACSTD2):c.-112G>A
|
rs1646892722
|
|
NM_002353.2(TACSTD2):c.-160C>G
|
rs977480107
|
|
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.*645T>C
|
rs1570021538
|
|
NM_002353.3(TACSTD2):c.-56C>T
|
rs774270086
|
|
NM_005993.5(TBCD):c.2137C>G (p.His713Asp)
|
rs200903034
|
|
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.*221_*223del
|
rs886045069
|
|
NM_013319.3(UBIAD1):c.*247T>C
|
rs886045070
|
|
NM_013319.3(UBIAD1):c.*94G>A
|
rs535726476
|
|
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.494T>G (p.Phe165Cys)
|
rs886045058
|
|
NM_013319.3(UBIAD1):c.600G>A (p.Met200Ile)
|
rs773070987
|
|
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[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.578C>T (p.Ala193Val)
|
rs2089572820
|
|
NM_014588.6(VSX1):c.871C>T (p.Leu291Phe)
|
rs762996146
|
|
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.*2218A>T
|
rs886055546
|
|
NM_015040.4(PIKFYVE):c.*2520T>A
|
rs1296543469
|
|
NM_015040.4(PIKFYVE):c.*2520T>C
|
rs1296543469
|
|
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.*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.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.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.3122A>G (p.Tyr1041Cys)
|
rs886055533
|
|
NM_015040.4(PIKFYVE):c.3270C>G (p.Leu1090=)
|
rs766037305
|
|
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_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.*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.*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_021220.4(OVOL2):c.253G>C (p.Gly85Arg)
|
|
|
NM_021615.5(CHST6):c.*1058G>T
|
rs137868909
|
|
NM_021615.5(CHST6):c.*1374C>T
|
rs564966292
|
|
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.*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.*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.*4494G>C
|
rs2080042404
|
|
NM_021615.5(CHST6):c.*4573C>T
|
rs138466889
|
|
NM_021615.5(CHST6):c.*4574G>C
|
rs572586138
|
|
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.1096G>A (p.Glu366Lys)
|
rs369592422
|
|
NM_021615.5(CHST6):c.1132C>T (p.Arg378Ter)
|
|
|
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.24C>T (p.Ser8=)
|
rs1461106668
|
|
NM_021615.5(CHST6):c.260C>T (p.Thr87Met)
|
|
|
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.400G>A (p.Ala134Thr)
|
rs745598168
|
|
NM_021615.5(CHST6):c.464G>T (p.Arg155Leu)
|
|
|
NM_021615.5(CHST6):c.484C>A (p.Arg162=)
|
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.532T>G (p.Phe178Val)
|
rs1567409280
|
|
NM_021615.5(CHST6):c.573C>G (p.Pro191=)
|
rs1044185449
|
|
NM_021615.5(CHST6):c.625C>T (p.Arg209Cys)
|
|
|
NM_021615.5(CHST6):c.713G>A (p.Gly238Asp)
|
|
|
NM_021615.5(CHST6):c.718C>A (p.Arg240Ser)
|
rs547928453
|
|
NM_021615.5(CHST6):c.7C>A (p.Leu3Met)
|
rs780317850
|
|
NM_021615.5(CHST6):c.86C>T (p.Pro29Leu)
|
rs1443299574
|
|
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_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_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.-9-1999_-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.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.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.1850G>A (p.Arg617His)
|
rs9696578
|
|
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.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.509G>C (p.Gly170Ala)
|
rs2061035565
|
|
NM_198252.3(GSN):c.761A>G (p.Asn254Ser)
|
rs756193920
|
|
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.*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
|
|