ClinVar Miner

List of variants reported as not provided by UniProtKB/Swiss-Prot

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 916
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HGVS dbSNP
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.4(ADA):c.220G>T (p.Gly74Cys) rs121908730
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736
NM_000022.4(ADA):c.248C>A (p.Ala83Asp) rs121908726
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000022.4(ADA):c.302G>T (p.Arg101Leu) rs121908714
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.419G>A (p.Gly140Glu) rs121908732
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.4(ADA):c.445C>T (p.Arg149Trp) rs121908733
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) rs121908737
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719
NM_000022.4(ADA):c.536C>A (p.Ala179Asp) rs121908727
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724
NM_000022.4(ADA):c.596A>C (p.Gln199Pro) rs121908734
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723
NM_000022.4(ADA):c.698C>T (p.Thr233Ile) rs121908729
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) rs121908718
NM_000062.2(SERPING1):c.1289T>A (p.Leu430Gln) rs281875174
NM_000062.2(SERPING1):c.1322T>C (p.Met441Thr) rs281875175
NM_000062.2(SERPING1):c.1340T>C (p.Leu447Pro) rs281875176
NM_000062.2(SERPING1):c.1396C>A (p.Arg466Ser) rs28940870
NM_000062.2(SERPING1):c.1396C>T (p.Arg466Cys) rs28940870
NM_000062.2(SERPING1):c.1397G>T (p.Arg466Leu) rs121907948
NM_000062.2(SERPING1):c.1418T>G (p.Val473Gly) rs281875177
NM_000062.2(SERPING1):c.1490A>G (p.Asp497Gly) rs281875178
NM_000062.2(SERPING1):c.352A>G (p.Thr118Ala) rs200534715
NM_000062.2(SERPING1):c.461A>G (p.Tyr154Cys) rs281875168
NM_000062.2(SERPING1):c.509C>T (p.Ser170Phe) rs281875169
NM_000062.2(SERPING1):c.550G>A (p.Gly184Arg) rs281875170
NM_000062.2(SERPING1):c.689T>C (p.Leu230Pro) rs281875171
NM_000062.2(SERPING1):c.695T>A (p.Ile232Lys) rs281875172
NM_000062.2(SERPING1):c.895T>C (p.Trp299Arg) rs281875173
NM_000082.3(ERCC8):c.1083G>T (p.Trp361Cys) rs281875221
NM_000082.3(ERCC8):c.478G>A (p.Ala160Thr) rs281875222
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.582G>C (p.Trp194Cys) rs281875223
NM_000082.3(ERCC8):c.605T>C (p.Leu202Ser) rs281875224
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000082.3(ERCC8):c.797A>G (p.Asp266Gly) rs281875225
NM_000101.4(CYBA):c.155T>C (p.Leu52Pro) rs179363890
NM_000101.4(CYBA):c.158A>T (p.Glu53Val) rs179363893
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) rs179363892
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) rs104894514
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) rs179363894
NM_000101.4(CYBA):c.74G>T (p.Gly25Val) rs179363891
NM_000128.3(F11):c.100G>C (p.Asp34His) rs281875267
NM_000128.3(F11):c.1021G>A (p.Glu341Lys) rs281875270
NM_000128.3(F11):c.1079T>C (p.Leu360Pro) rs281875254
NM_000128.3(F11):c.1201T>C (p.Trp401Arg) rs281875262
NM_000128.3(F11):c.1207G>A (p.Val403Met) rs281875266
NM_000128.3(F11):c.127G>A (p.Ala43Thr) rs281875264
NM_000128.3(F11):c.1361T>A (p.Ile454Lys) rs281875241
NM_000128.3(F11):c.137G>T (p.Cys46Phe) rs281875271
NM_000128.3(F11):c.1442T>G (p.Ile481Ser) rs281875242
NM_000128.3(F11):c.1507T>C (p.Ser503Pro) rs140068026
NM_000128.3(F11):c.1517A>G (p.Asp506Gly) rs281875258
NM_000128.3(F11):c.151A>C (p.Thr51Pro) rs281875243
NM_000128.3(F11):c.152C>T (p.Thr51Ile) rs281875252
NM_000128.3(F11):c.1531T>C (p.Tyr511His) rs281875278
NM_000128.3(F11):c.1541G>T (p.Cys514Phe) rs281875249
NM_000128.3(F11):c.1578C>G (p.Asp526Glu) rs281875263
NM_000128.3(F11):c.159C>A (p.His53Gln) rs281875261
NM_000128.3(F11):c.1693G>A (p.Glu565Lys) rs281875275
NM_000128.3(F11):c.1724C>T (p.Ser575Leu) rs281875250
NM_000128.3(F11):c.1789G>A (p.Glu597Lys) rs281875251
NM_000128.3(F11):c.1822T>C (p.Tyr608His) rs281875255
NM_000128.3(F11):c.1853T>G (p.Ile618Ser) rs281875276
NM_000128.3(F11):c.188C>T (p.Ala63Val) rs281875244
NM_000128.3(F11):c.302A>G (p.Lys101Arg) rs281875272
NM_000128.3(F11):c.419G>A (p.Cys140Tyr) rs281875256
NM_000128.3(F11):c.452A>G (p.Tyr151Cys) rs281875273
NM_000128.3(F11):c.664G>T (p.Asp222Tyr) rs281875245
NM_000128.3(F11):c.683G>A (p.Arg228Gln) rs281875246
NM_000128.3(F11):c.723C>G (p.Phe241Leu) rs281875265
NM_000128.3(F11):c.738G>C (p.Trp246Cys) rs281875279
NM_000128.3(F11):c.755G>C (p.Arg252Thr) rs281875260
NM_000128.3(F11):c.764G>A (p.Cys255Tyr) rs281875277
NM_000128.3(F11):c.788G>A (p.Gly263Glu) rs281875274
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000128.3(F11):c.827C>G (p.Ser276Cys) rs281875247
NM_000128.3(F11):c.830G>A (p.Gly277Asp) rs281875248
NM_000128.3(F11):c.943G>A (p.Glu315Lys) rs281875257
NM_000128.3(F11):c.94G>A (p.Gly32Arg) rs281875259
NM_000128.3(F11):c.959T>C (p.Leu320Pro) rs281875268
NM_000128.3(F11):c.965C>T (p.Thr322Ile) rs281875269
NM_000128.3(F11):c.992C>T (p.Thr331Ile) rs281875253
NM_000207.3(INS):c.104T>C (p.Leu35Pro) rs121908273
NM_000207.3(INS):c.127T>G (p.Cys43Gly) rs80356666
NM_000207.3(INS):c.137G>A (p.Arg46Gln) rs121908260
NM_000207.3(INS):c.140G>T (p.Gly47Val) rs80356667
NM_000207.3(INS):c.143T>G (p.Phe48Cys) rs80356668
NM_000207.3(INS):c.163C>T (p.Arg55Cys) rs121908261
NM_000207.3(INS):c.16C>T (p.Arg6Cys) rs121908278
NM_000207.3(INS):c.17G>A (p.Arg6His) rs121908259
NM_000207.3(INS):c.250G>A (p.Gly84Arg) rs121908274
NM_000207.3(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000207.3(INS):c.268G>T (p.Gly90Cys) rs80356670
NM_000207.3(INS):c.287G>A (p.Cys96Tyr) rs80356671
NM_000207.3(INS):c.287G>C (p.Cys96Ser) rs80356671
NM_000207.3(INS):c.302C>G (p.Ser101Cys) rs121908276
NM_000207.3(INS):c.308A>G (p.Tyr103Cys) rs121908277
NM_000207.3(INS):c.323A>G (p.Tyr108Cys) rs80356672
NM_000207.3(INS):c.71C>A (p.Ala24Asp) rs80356663
NM_000207.3(INS):c.85C>G (p.His29Asp) rs121908272
NM_000207.3(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000207.3(INS):c.94G>C (p.Gly32Arg) rs80356664
NM_000211.5(ITGB2):c.2147G>C (p.Gly716Ala) rs179363872
NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr) rs137852615
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
NM_000211.5(ITGB2):c.899A>T (p.Asp300Val) rs179363874
NM_000267.3(NF1):c.1010A>T (p.Glu337Val) rs199474736
NM_000267.3(NF1):c.1013A>G (p.Asp338Gly) rs199474773
NM_000267.3(NF1):c.1177C>G (p.His393Asp) rs199474768
NM_000267.3(NF1):c.1178A>T (p.His393Leu) rs199474769
NM_000267.3(NF1):c.1472A>G (p.Tyr491Cys) rs199474757
NM_000267.3(NF1):c.1556A>C (p.Gln519Pro) rs199474770
NM_000267.3(NF1):c.1595T>C (p.Leu532Pro) rs199474737
NM_000267.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_000267.3(NF1):c.1733T>G (p.Leu578Arg) rs199474774
NM_000267.3(NF1):c.1742T>C (p.Ile581Thr) rs199474759
NM_000267.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_000267.3(NF1):c.1810T>G (p.Leu604Val) rs142712751
NM_000267.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_000267.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_000267.3(NF1):c.2135A>G (p.His712Arg) rs199474727
NM_000267.3(NF1):c.221C>A (p.Ala74Asp) rs199474726
NM_000267.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_000267.3(NF1):c.2294G>A (p.Arg765His) rs199474777
NM_000267.3(NF1):c.2326G>A (p.Ala776Thr) rs199474771
NM_000267.3(NF1):c.2330G>C (p.Trp777Ser) rs199474745
NM_000267.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_000267.3(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_000267.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730
NM_000267.3(NF1):c.2352G>C (p.Trp784Cys) rs199474778
NM_000267.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_000267.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_000267.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_000267.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739
NM_000267.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_000267.3(NF1):c.2759T>C (p.Leu920Pro) rs199474775
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_000267.3(NF1):c.2903T>G (p.Met968Arg) rs199474749
NM_000267.3(NF1):c.3217A>G (p.Met1073Val) rs199474740
NM_000267.3(NF1):c.3440T>C (p.Leu1147Pro) rs199474779
NM_000267.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_000267.3(NF1):c.3497G>A (p.Gly1166Asp) rs199474787
NM_000267.3(NF1):c.350T>G (p.Ile117Ser) rs199474731
NM_000267.3(NF1):c.3578T>G (p.Phe1193Cys) rs199474780
NM_000267.3(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_000267.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_000267.3(NF1):c.3610C>T (p.Arg1204Trp) rs199474732
NM_000267.3(NF1):c.3749G>C (p.Arg1250Pro) rs199474765
NM_000267.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_000267.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe) rs199474789
NM_000267.3(NF1):c.4255A>C (p.Lys1419Gln) rs199474790
NM_000267.3(NF1):c.4256A>G (p.Lys1419Arg) rs199474788
NM_000267.3(NF1):c.4268A>G (p.Lys1423Arg) rs199474781
NM_000267.3(NF1):c.4269G>T (p.Lys1423Asn) rs199474750
NM_000267.3(NF1):c.4274T>C (p.Leu1425Pro) rs199474733
NM_000267.3(NF1):c.4289A>C (p.Asn1430Thr) rs199474754
NM_000267.3(NF1):c.4294G>C (p.Val1432Leu) rs199474755
NM_000267.3(NF1):c.434T>C (p.Leu145Pro) rs199474734
NM_000267.3(NF1):c.4388C>T (p.Ser1463Phe) rs199474772
NM_000267.3(NF1):c.4402A>G (p.Ser1468Gly) rs199474743
NM_000267.3(NF1):c.470T>A (p.Ile157Asn) rs199474744
NM_000267.3(NF1):c.4750A>G (p.Ile1584Val) rs199474766
NM_000267.3(NF1):c.479G>C (p.Arg160Thr) rs199474752
NM_000267.3(NF1):c.5290G>T (p.Ala1764Ser) rs199474782
NM_000267.3(NF1):c.5791T>C (p.Trp1931Arg) rs199474791
NM_000267.3(NF1):c.5795T>C (p.Leu1932Pro) rs199474792
NM_000267.3(NF1):c.581T>G (p.Leu194Arg) rs199474753
NM_000267.3(NF1):c.5938G>A (p.Gly1980Arg) rs199474751
NM_000267.3(NF1):c.5971G>A (p.Asp1991Asn) rs199474783
NM_000267.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_000267.3(NF1):c.6598C>G (p.Pro2200Ala) rs199474776
NM_000267.3(NF1):c.7006G>A (p.Glu2336Lys) rs199474784
NM_000267.3(NF1):c.7828A>G (p.Thr2610Ala) rs199474793
NM_000267.3(NF1):c.92A>G (p.His31Arg) rs199474725
NM_000267.3(NF1):c.970T>C (p.Cys324Arg) rs199474735
NM_000267.3(NF1):c.988G>A (p.Ala330Thr) rs199474767
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys) rs137853831
NM_000276.4(OCRL):c.1060A>C (p.Asn354His) rs137853833
NM_000276.4(OCRL):c.1070G>A (p.Gly357Glu) rs137853854
NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile) rs137853832
NM_000276.4(OCRL):c.1115T>G (p.Val372Gly) rs137853834
NM_000276.4(OCRL):c.1117A>T (p.Asn373Tyr) rs137853835
NM_000276.4(OCRL):c.1121C>T (p.Ser374Phe) rs137853836
NM_000276.4(OCRL):c.1123C>T (p.His375Tyr) rs137853848
NM_000276.4(OCRL):c.1241A>G (p.His414Arg) rs137853837
NM_000276.4(OCRL):c.1262G>A (p.Gly421Glu) rs137853855
NM_000276.4(OCRL):c.1270A>G (p.Asn424Asp) rs137853856
NM_000276.4(OCRL):c.1351G>A (p.Asp451Asn) rs137853838
NM_000276.4(OCRL):c.1352A>G (p.Asp451Gly) rs137853850
NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly) rs137853839
NM_000276.4(OCRL):c.1388T>C (p.Phe463Ser) rs137853851
NM_000276.4(OCRL):c.1402G>A (p.Glu468Lys) rs137853840
NM_000276.4(OCRL):c.1403A>G (p.Glu468Gly) rs137853841
NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys) rs137853262
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp) rs137853846
NM_000276.4(OCRL):c.1493G>A (p.Cys498Tyr) rs137853857
NM_000276.4(OCRL):c.1495G>C (p.Asp499His) rs137853842
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000276.4(OCRL):c.1507T>C (p.Trp503Arg) rs137853843
NM_000276.4(OCRL):c.1523T>A (p.Val508Asp) rs137853849
NM_000276.4(OCRL):c.1538A>G (p.Tyr513Cys) rs137853847
NM_000276.4(OCRL):c.1566C>G (p.Ser522Arg) rs137853853
NM_000276.4(OCRL):c.1571A>G (p.His524Arg) rs137853852
NM_000276.4(OCRL):c.1572C>G (p.His524Gln) rs137853261
NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu) rs137853858
NM_000276.4(OCRL):c.1773C>A (p.Asn591Lys) rs137853844
NM_000276.4(OCRL):c.2672T>G (p.Leu891Arg) rs137853845
NM_000276.4(OCRL):c.725T>C (p.Phe242Ser) rs137853828
NM_000276.4(OCRL):c.821T>C (p.Ile274Thr) rs137853829
NM_000276.4(OCRL):c.830A>G (p.Gln277Arg) rs137853830
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889
NM_000383.4(AIRE):c.230T>C (p.Phe77Ser) rs179363887
NM_000383.4(AIRE):c.232T>A (p.Trp78Arg) rs179363880
NM_000383.4(AIRE):c.238G>T (p.Val80Leu) rs179363881
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys) rs179363883
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu) rs179363876
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878
NM_000383.4(AIRE):c.86T>C (p.Leu29Pro) rs179363879
NM_000383.4(AIRE):c.977C>A (p.Pro326Gln) rs179363885
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) rs179363885
NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys) rs121908197
NM_000391.4(TPP1):c.1057A>C (p.Thr353Pro) rs121908206
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) rs119455953
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.1154T>A (p.Val385Asp) rs121908198
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) rs121908199
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956
NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu) rs121908201
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg) rs121908203
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202
NM_000391.4(TPP1):c.1444G>C (p.Gly482Arg) rs121908208
NM_000391.4(TPP1):c.1630C>T (p.Pro544Ser) rs121908210
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg) rs121908195
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) rs121908204
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu) rs121908205
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys) rs28940573
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.4(TPP1):c.829G>A (p.Val277Met) rs121908207
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) rs119455958
NM_000391.4(TPP1):c.860T>A (p.Ile287Asn) rs121908196
NM_000397.3(CYBB):c.1012C>T (p.His338Tyr) rs151344484
NM_000397.3(CYBB):c.1016C>A (p.Pro339His) rs151344470
NM_000397.3(CYBB):c.1025T>A (p.Leu342Gln) rs151344495
NM_000397.3(CYBB):c.1031C>T (p.Ser344Phe) rs151344485
NM_000397.3(CYBB):c.1067G>C (p.Arg356Pro) rs151344471
NM_000397.3(CYBB):c.1090G>C (p.Gly364Arg) rs141756032
NM_000397.3(CYBB):c.1166G>A (p.Gly389Glu) rs137854586
NM_000397.3(CYBB):c.1166G>C (p.Gly389Ala) rs137854586
NM_000397.3(CYBB):c.1214T>G (p.Met405Arg) rs151344472
NM_000397.3(CYBB):c.121T>G (p.Tyr41Asp) rs151344453
NM_000397.3(CYBB):c.1222G>A (p.Gly408Arg) rs151344473
NM_000397.3(CYBB):c.1223G>A (p.Gly408Glu) rs151344474
NM_000397.3(CYBB):c.1244C>A (p.Pro415His) rs137854585
NM_000397.3(CYBB):c.1244C>T (p.Pro415Leu) rs137854585
NM_000397.3(CYBB):c.1259T>C (p.Leu420Pro) rs151344486
NM_000397.3(CYBB):c.1264T>C (p.Ser422Pro) rs151344475
NM_000397.3(CYBB):c.1357T>C (p.Trp453Arg) rs151344476
NM_000397.3(CYBB):c.1499A>G (p.Asp500Gly) rs137854593
NM_000397.3(CYBB):c.1514T>G (p.Leu505Arg) rs151344490
NM_000397.3(CYBB):c.1546T>C (p.Trp516Arg) rs151344487
NM_000397.3(CYBB):c.1548G>T (p.Trp516Cys) rs151344477
NM_000397.3(CYBB):c.1551T>A (p.Asp517Glu) rs151344452
NM_000397.3(CYBB):c.1601T>A (p.Val534Asp) rs151344478
NM_000397.3(CYBB):c.1609T>C (p.Cys537Arg) rs151344454
NM_000397.3(CYBB):c.161G>T (p.Arg54Met) rs151344479
NM_000397.3(CYBB):c.162G>C (p.Arg54Ser) rs151344456
NM_000397.3(CYBB):c.1637T>C (p.Leu546Pro) rs151344492
NM_000397.3(CYBB):c.164C>A (p.Ala55Asp) rs151344480
NM_000397.3(CYBB):c.170C>A (p.Ala57Glu) rs151344481
NM_000397.3(CYBB):c.175T>C (p.Cys59Arg) rs151344457
NM_000397.3(CYBB):c.177C>G (p.Cys59Trp) rs151344488
NM_000397.3(CYBB):c.301C>T (p.His101Tyr) rs137854594
NM_000397.3(CYBB):c.302A>G (p.His101Arg) rs137854591
NM_000397.3(CYBB):c.356A>G (p.His119Arg) rs151344458
NM_000397.3(CYBB):c.466G>A (p.Ala156Thr) rs137854590
NM_000397.3(CYBB):c.532A>C (p.Thr178Pro) rs151344497
NM_000397.3(CYBB):c.535G>A (p.Gly179Arg) rs151344491
NM_000397.3(CYBB):c.578C>T (p.Ser193Phe) rs151344493
NM_000397.3(CYBB):c.58G>C (p.Gly20Arg) rs151344455
NM_000397.3(CYBB):c.613T>A (p.Phe205Ile) rs151344496
NM_000397.3(CYBB):c.625C>T (p.His209Tyr) rs137854587
NM_000397.3(CYBB):c.626A>G (p.His209Arg) rs151344482
NM_000397.3(CYBB):c.627T>A (p.His209Gln) rs151344459
NM_000397.3(CYBB):c.664C>A (p.His222Asn) rs151344460
NM_000397.3(CYBB):c.664C>T (p.His222Tyr) rs151344460
NM_000397.3(CYBB):c.665A>G (p.His222Arg) rs151344462
NM_000397.3(CYBB):c.667G>T (p.Gly223Ter) rs151344463
NM_000397.3(CYBB):c.668G>T (p.Gly223Val) rs151344464
NM_000397.3(CYBB):c.671C>G (p.Ala224Gly) rs151344483
NM_000397.3(CYBB):c.674A>T (p.Glu225Val) rs151344494
NM_000397.3(CYBB):c.692A>C (p.Gln231Pro) rs151344498
NM_000397.3(CYBB):c.730T>C (p.Cys244Arg) rs151344465
NM_000397.3(CYBB):c.731G>A (p.Cys244Tyr) rs137854589
NM_000397.3(CYBB):c.731G>C (p.Cys244Ser) rs137854589
NM_000397.3(CYBB):c.907C>A (p.His303Asn) rs137854595
NM_000397.3(CYBB):c.911C>G (p.Pro304Arg) rs137854596
NM_000397.3(CYBB):c.919A>C (p.Thr307Pro) rs151344489
NM_000397.3(CYBB):c.925G>A (p.Glu309Lys) rs151344466
NM_000397.3(CYBB):c.965G>A (p.Gly322Glu) rs151344467
NM_000397.3(CYBB):c.973A>T (p.Ile325Phe) rs151344468
NM_000397.3(CYBB):c.997T>C (p.Ser333Pro) rs151344469
NM_000433.3(NCF2):c.1105G>A (p.Gly369Arg) rs137854513
NM_000433.3(NCF2):c.125A>G (p.Asn42Ser) rs137854514
NM_000433.3(NCF2):c.130G>C (p.Gly44Arg) rs137854510
NM_000433.3(NCF2):c.130G>T (p.Gly44Cys) rs137854510
NM_000433.3(NCF2):c.230G>A (p.Arg77Gln) rs119103275
NM_000433.3(NCF2):c.233G>A (p.Gly78Glu) rs137854519
NM_000433.3(NCF2):c.235A>G (p.Met79Val) rs137854512
NM_000433.3(NCF2):c.279C>G (p.Asp93Glu) rs137854507
NM_000433.3(NCF2):c.305G>C (p.Arg102Pro) rs137854515
NM_000433.3(NCF2):c.323A>T (p.Asp108Val) rs137854509
NM_000433.3(NCF2):c.383C>T (p.Ala128Val) rs119103274
NM_000433.3(NCF2):c.409T>A (p.Trp137Arg) rs137854516
NM_000433.3(NCF2):c.419C>A (p.Ala140Asp) rs137854520
NM_000433.3(NCF2):c.505C>G (p.Gln169Glu) rs137854517
NM_000433.3(NCF2):c.551G>C (p.Arg184Pro) rs137854518
NM_000433.3(NCF2):c.605C>T (p.Ala202Val) rs137854508
NM_000433.3(NCF2):c.983G>A (p.Arg328Lys) rs137854511
NM_000448.2(RAG1):c.1186C>T (p.Arg396Cys) rs104894289
NM_000448.2(RAG1):c.1187G>T (p.Arg396Leu) rs104894291
NM_000448.2(RAG1):c.1201T>C (p.Ser401Pro) rs199474682
NM_000448.2(RAG1):c.1229G>A (p.Arg410Gln) rs199474684
NM_000448.2(RAG1):c.1297G>A (p.Val433Met) rs199474679
NM_000448.2(RAG1):c.1303A>G (p.Met435Val) rs141524540
NM_000448.2(RAG1):c.1331C>T (p.Ala444Val) rs199474685
NM_000448.2(RAG1):c.1361T>A (p.Leu454Gln) rs199474677
NM_000448.2(RAG1):c.1420C>T (p.Arg474Cys) rs199474678
NM_000448.2(RAG1):c.1421G>A (p.Arg474His) rs199474686
NM_000448.2(RAG1):c.1677G>T (p.Arg559Ser) rs199474681
NM_000448.2(RAG1):c.1870C>T (p.Arg624Cys) rs199474688
NM_000448.2(RAG1):c.1871G>A (p.Arg624His) rs199474680
NM_000448.2(RAG1):c.2006A>G (p.Glu669Gly) rs199474689
NM_000448.2(RAG1):c.2095C>T (p.Arg699Trp) rs199474676
NM_000448.2(RAG1):c.2258A>T (p.His753Leu) rs199474687
NM_000448.2(RAG1):c.2564A>T (p.Asn855Ile) rs199474690
NM_000448.2(RAG1):c.2654T>G (p.Leu885Arg) rs199474691
NM_000448.2(RAG1):c.2924G>A (p.Arg975Gln) rs150739647
NM_000448.2(RAG1):c.730A>G (p.Arg244Gly) rs199474683
NM_000487.6(ARSA):c.100G>A (p.Gly34Ser) rs199476350
NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn) rs199476369
NM_000487.6(ARSA):c.1132T>A (p.Tyr378Asn) rs199476344
NM_000487.6(ARSA):c.1149C>G (p.Asp383Glu) rs6151425
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys) rs199476370
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr) rs199476376
NM_000487.6(ARSA):c.1222A>G (p.Ser408Gly) rs199476361
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro) rs199476392
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser) rs199476380
NM_000487.6(ARSA):c.1412C>G (p.Ala471Gly) rs199476385
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly) rs199476388
NM_000487.6(ARSA):c.161T>C (p.Leu54Pro) rs199476357
NM_000487.6(ARSA):c.209T>C (p.Leu70Pro) rs199476351
NM_000487.6(ARSA):c.233T>C (p.Leu78Pro) rs199476362
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp) rs199476352
NM_000487.6(ARSA):c.286C>G (p.Pro96Ala) rs199476353
NM_000487.6(ARSA):c.290G>A (p.Ser97Asn) rs199476363
NM_000487.6(ARSA):c.292_293delinsCT (p.Ser98Leu) rs199476371
NM_000487.6(ARSA):c.302G>T (p.Gly101Val) rs74315455
NM_000487.6(ARSA):c.361G>A (p.Gly121Arg) rs199476364
NM_000487.6(ARSA):c.412C>T (p.Pro138Ser) rs60504011
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.433C>G (p.Arg145Gly) rs199476373
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.6(ARSA):c.460G>T (p.Asp154Tyr) rs199476365
NM_000487.6(ARSA):c.465G>C (p.Gln155His) rs199476377
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) rs74315464
NM_000487.6(ARSA):c.472T>C (p.Cys158Arg) rs199476348
NM_000487.6(ARSA):c.521G>A (p.Cys174Tyr) rs199476381
NM_000487.6(ARSA):c.548T>A (p.Leu183Gln) rs199476378
NM_000487.6(ARSA):c.576G>C (p.Gln192His) rs199476372
NM_000487.6(ARSA):c.577C>A (p.Pro193Thr) rs199476374
NM_000487.6(ARSA):c.59C>A (p.Ala20Asp) rs199476339
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys) rs199476345
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro) rs199476341
NM_000487.6(ARSA):c.661T>G (p.Phe221Val) rs199476383
NM_000487.6(ARSA):c.685C>T (p.His229Tyr) rs199476354
NM_000487.6(ARSA):c.737G>A (p.Arg246His) rs199476366
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) rs199476384
NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr) rs199476367
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr) rs199476386
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser) rs199476342
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) rs199476387
NM_000487.6(ARSA):c.887G>A (p.Cys296Tyr) rs199476347
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser) rs199476389
NM_000487.6(ARSA):c.905G>T (p.Cys302Phe) rs74315484
NM_000487.6(ARSA):c.912G>C (p.Lys304Asn) rs199476343
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.91G>A (p.Asp31Asn) rs199476346
NM_000487.6(ARSA):c.922T>C (p.Tyr308His) rs199476379
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys) rs199476360
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp) rs199476356
NM_000487.6(ARSA):c.929G>T (p.Gly310Val) rs199476356
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln) rs199476382
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp) rs199476390
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) rs199476368
NM_000487.6(ARSA):c.94G>C (p.Asp32His) rs199476340
NM_001004334.3(GPR179):c.1364G>A (p.Gly455Asp) rs281875235
NM_001004334.3(GPR179):c.1807C>T (p.His603Tyr) rs281875234
NM_001004334.3(GPR179):c.376G>C (p.Asp126His) rs281875233
NM_001004334.3(GPR179):c.659A>G (p.Tyr220Cys) rs281875236
NM_001059.3(TACR3):c.1057C>T (p.Pro353Ser) rs121918125
NM_001059.3(TACR3):c.278G>A (p.Gly93Asp) rs121918124
NM_001101.5(ACTB):c.193C>G (p.Leu65Val) rs281875332
NM_001101.5(ACTB):c.34A>G (p.Asn12Asp) rs281875331
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) rs281875333
NM_001101.5(ACTB):c.587G>A (p.Arg196His) rs281875334
NM_001127221.1(CACNA1A):c.1165C>T (p.Leu389Phe) rs121908239
NM_001127221.1(CACNA1A):c.1213G>A (p.Ala405Thr) rs121908245
NM_001127221.1(CACNA1A):c.1502C>T (p.Thr501Met) rs121908240
NM_001127221.1(CACNA1A):c.1748G>A (p.Arg583Gln) rs121908217
NM_001127221.1(CACNA1A):c.1913G>A (p.Gly638Asp) rs121908246
NM_001127221.1(CACNA1A):c.1997C>T (p.Thr666Met) rs121908212
NM_001127221.1(CACNA1A):c.2141T>C (p.Val714Ala) rs121908213
NM_001127221.1(CACNA1A):c.2145C>G (p.Asp715Glu) rs121908218
NM_001127221.1(CACNA1A):c.2393T>C (p.Met798Thr) rs121908241
NM_001127221.1(CACNA1A):c.2690C>G (p.Pro897Arg) rs121908242
NM_001127221.1(CACNA1A):c.2754G>C (p.Glu918Asp) rs16022
NM_001127221.1(CACNA1A):c.2978A>T (p.Glu993Val) rs16023
NM_001127221.1(CACNA1A):c.3313G>A (p.Gly1105Ser) rs16027
NM_001127221.1(CACNA1A):c.4003A>G (p.Lys1335Glu) rs121908223
NM_001127221.1(CACNA1A):c.4037G>A (p.Arg1346Gln) rs121908230
NM_001127221.1(CACNA1A):c.4151A>G (p.Tyr1384Cys) rs121908219
NM_001127221.1(CACNA1A):c.4208T>G (p.Phe1403Cys) rs121908227
NM_001127221.1(CACNA1A):c.4366G>T (p.Val1456Leu) rs121908237
NM_001127221.1(CACNA1A):c.4444G>A (p.Gly1482Arg) rs121908232
NM_001127221.1(CACNA1A):c.4469T>C (p.Phe1490Ser) rs121908233
NM_001127221.1(CACNA1A):c.4477G>A (p.Val1493Ile) rs121908234
NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) rs121908216
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.4999C>T (p.Arg1667Trp) rs121908220
NM_001127221.1(CACNA1A):c.5035C>T (p.Arg1679Cys) rs121908243
NM_001127221.1(CACNA1A):c.5047T>C (p.Trp1683Arg) rs121908221
NM_001127221.1(CACNA1A):c.5083G>A (p.Val1695Ile) rs121908224
NM_001127221.1(CACNA1A):c.5207A>T (p.His1736Leu) rs121908229
NM_001127221.1(CACNA1A):c.5266G>A (p.Glu1756Lys) rs121908226
NM_001127221.1(CACNA1A):c.5428A>C (p.Ile1810Leu) rs121908214
NM_001127221.1(CACNA1A):c.5605T>C (p.Cys1869Arg) rs121908244
NM_001127221.1(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
NM_001127221.1(CACNA1A):c.584G>A (p.Arg195Lys) rs121908222
NM_001127221.1(CACNA1A):c.6403C>T (p.Arg2135Cys) rs121908235
NM_001127221.1(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127221.1(CACNA1A):c.743A>G (p.Tyr248Cys) rs121908238
NM_001127221.1(CACNA1A):c.757C>T (p.His253Tyr) rs121908228
NM_001127221.1(CACNA1A):c.766T>C (p.Cys256Arg) rs121908231
NM_001127221.1(CACNA1A):c.860G>A (p.Cys287Tyr) rs121908236
NM_001127221.1(CACNA1A):c.877G>A (p.Gly293Arg) rs121908215
NM_001164277.1(SLC37A4):c.1015G>T (p.Gly339Cys) rs80356490
NM_001164277.1(SLC37A4):c.1016G>A (p.Gly339Asp) rs121908980
NM_001164277.1(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492
NM_001164277.1(SLC37A4):c.1118C>A (p.Ala373Asp) rs193302901
NM_001164277.1(SLC37A4):c.1126G>A (p.Gly376Ser) rs193302897
NM_001164277.1(SLC37A4):c.148G>C (p.Gly50Arg) rs193302894
NM_001164277.1(SLC37A4):c.149G>A (p.Gly50Glu) rs193302877
NM_001164277.1(SLC37A4):c.162C>A (p.Ser54Arg) rs193302898
NM_001164277.1(SLC37A4):c.163A>C (p.Ser55Arg) rs193302884
NM_001164277.1(SLC37A4):c.202G>A (p.Gly68Arg) rs193302885
NM_001164277.1(SLC37A4):c.254T>C (p.Leu85Pro) rs193302899
NM_001164277.1(SLC37A4):c.263G>A (p.Gly88Asp) rs193302886
NM_001164277.1(SLC37A4):c.352T>C (p.Trp118Arg) rs80356489
NM_001164277.1(SLC37A4):c.398A>C (p.Gln133Pro) rs193302896
NM_001164277.1(SLC37A4):c.443C>T (p.Ala148Val) rs193302879
NM_001164277.1(SLC37A4):c.446G>A (p.Gly149Glu) rs193302892
NM_001164277.1(SLC37A4):c.448G>A (p.Gly150Arg) rs193302883
NM_001164277.1(SLC37A4):c.458C>T (p.Pro153Leu) rs193302890
NM_001164277.1(SLC37A4):c.526T>C (p.Cys176Arg) rs193302895
NM_001164277.1(SLC37A4):c.547T>C (p.Cys183Arg) rs193302893
NM_001164277.1(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.1(SLC37A4):c.59G>A (p.Gly20Asp) rs193302881
NM_001164277.1(SLC37A4):c.686T>C (p.Leu229Pro) rs193302902
NM_001164277.1(SLC37A4):c.70T>C (p.Tyr24His) rs193302887
NM_001164277.1(SLC37A4):c.736T>C (p.Trp246Arg) rs193302878
NM_001164277.1(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889
NM_001164277.1(SLC37A4):c.82C>T (p.Arg28Cys) rs193302882
NM_001164277.1(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900
NM_001164277.1(SLC37A4):c.83G>A (p.Arg28His) rs121908978
NM_001164277.1(SLC37A4):c.898C>T (p.Arg300Cys) rs193302880
NM_001164277.1(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_001164277.1(SLC37A4):c.902A>C (p.His301Pro) rs193302891
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr) rs121912300
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile) rs121912298
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val) rs121912288
NM_001363.5(DKC1):c.106T>G (p.Phe36Val) rs121912293
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu) rs121912296
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg) rs121912292
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg) rs121912299
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu) rs121912295
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys) rs121912302
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu) rs121912289
NM_001363.5(DKC1):c.146C>T (p.Thr49Met) rs121912304
NM_001363.5(DKC1):c.166_167delinsTC (p.Leu56Ser) rs121912287
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr) rs121912301
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) rs121912297
NM_001363.5(DKC1):c.214C>T (p.Leu72Phe) rs121912306
NM_001363.5(DKC1):c.214_215delinsTA (p.Leu72Tyr) rs121912294
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe) rs121912290
NM_001363.5(DKC1):c.961C>G (p.Leu321Val) rs2728726
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln) rs121912291
NM_001366385.1(CARD14):c.112C>T (p.Arg38Cys) rs281875217
NM_001366385.1(CARD14):c.1778T>A (p.Ile593Asn) rs281875220
NM_001366385.1(CARD14):c.185G>A (p.Arg62Gln) rs115582620
NM_001366385.1(CARD14):c.2044C>T (p.Arg682Trp) rs117918077
NM_001366385.1(CARD14):c.2140G>A (p.Gly714Ser) rs151150961
NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu) rs144285237
NM_001366385.1(CARD14):c.349G>A (p.Gly117Ser) rs281875215
NM_001366385.1(CARD14):c.413A>C (p.Glu138Ala) rs281875214
NM_001366385.1(CARD14):c.424G>A (p.Glu142Lys) rs281875212
NM_001366385.1(CARD14):c.425A>G (p.Glu142Gly) rs281875213
NM_001366385.1(CARD14):c.449T>G (p.Leu150Arg) rs146214639
NM_001366385.1(CARD14):c.511C>A (p.His171Asn) rs281875216
NM_001366385.1(CARD14):c.536G>A (p.Arg179His) rs199517469
NM_001366385.1(CARD14):c.571G>T (p.Val191Leu) rs281875218
NM_001366385.1(CARD14):c.599G>A (p.Ser200Asn) rs114688446
NM_001366385.1(CARD14):c.854A>G (p.Asp285Gly) rs281875219
NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn) rs267606630
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) rs281875325
NM_001614.5(ACTG1):c.364A>G (p.Ile122Val) rs281875330
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) rs281875326
NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys) rs281875327
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr) rs113993968
NM_002775.5(HTRA1):c.889G>A (p.Val297Met) rs113993969
NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala) rs281875198
NM_003070.5(SMARCA2):c.2264A>G (p.Lys755Arg) rs281875203
NM_003070.5(SMARCA2):c.2267C>T (p.Thr756Ile) rs281875191
NM_003070.5(SMARCA2):c.2551G>C (p.Asp851His) rs281875206
NM_003070.5(SMARCA2):c.2554G>A (p.Glu852Lys) rs281875199
NM_003070.5(SMARCA2):c.2556A>C (p.Glu852Asp) rs281875193
NM_003070.5(SMARCA2):c.2561A>G (p.His854Arg) rs281875202
NM_003070.5(SMARCA2):c.2563C>G (p.Arg855Gly) rs281875207
NM_003070.5(SMARCA2):c.2641G>C (p.Gly881Arg) rs281875194
NM_003070.5(SMARCA2):c.2642G>T (p.Gly881Val) rs281875185
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) rs281875188
NM_003070.5(SMARCA2):c.2815C>T (p.His939Tyr) rs281875190
NM_003070.5(SMARCA2):c.2837T>C (p.Leu946Ser) rs281875200
NM_003070.5(SMARCA2):c.2838A>T (p.Leu946Phe) rs281875205
NM_003070.5(SMARCA2):c.3313C>T (p.Arg1105Cys) rs281875192
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003070.5(SMARCA2):c.3404T>C (p.Leu1135Pro) rs281875195
NM_003070.5(SMARCA2):c.3436A>C (p.Ser1146Arg) rs281875204
NM_003070.5(SMARCA2):c.3473A>T (p.Asp1158Val) rs281875240
NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly) rs281875184
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) rs281875187
NM_003070.5(SMARCA2):c.3476G>T (p.Arg1159Leu) rs281875187
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003070.5(SMARCA2):c.3562G>C (p.Ala1188Pro) rs281875196
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys) rs281875239
NM_003070.5(SMARCA2):c.3614A>G (p.Asp1205Gly) rs281875201
NM_003070.5(SMARCA2):c.3637C>T (p.Arg1213Trp) rs281875238
NM_003072.4(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003072.4(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.4(SMARCA4):c.2761C>T (p.Leu921Phe) rs281875228
NM_003072.4(SMARCA4):c.3032T>C (p.Met1011Thr) rs281875229
NM_003072.4(SMARCA4):c.3469C>G (p.Arg1157Gly) rs281875230
NM_003639.4(IKBKG):c.1250G>A (p.Cys417Tyr) rs137853326
NM_003639.4(IKBKG):c.1250G>T (p.Cys417Phe) rs137853326
NM_003639.4(IKBKG):c.169G>A (p.Glu57Lys) rs148695964
NM_003639.4(IKBKG):c.337G>A (p.Asp113Asn) rs179363896
NM_003639.4(IKBKG):c.367C>T (p.Arg123Trp) rs179363895
NM_003639.4(IKBKG):c.517C>G (p.Arg173Gly) rs179363866
NM_003639.4(IKBKG):c.524G>C (p.Arg175Pro) rs179363868
NM_003639.4(IKBKG):c.680T>C (p.Leu227Pro) rs179363869
NM_003639.4(IKBKG):c.931G>A (p.Asp311Asn) rs179363867
NM_003639.4(IKBKG):c.967G>C (p.Ala323Pro) rs179363865
NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe) rs121909078
NM_004637.5(RAB7A):c.471G>C (p.Lys157Asn) rs121909081
NM_004637.5(RAB7A):c.482A>C (p.Asn161Thr) rs121909080
NM_004637.5(RAB7A):c.484G>A (p.Val162Met) rs121909079
NM_004733.4(SLC33A1):c.328G>C (p.Ala110Pro) rs281875283
NM_004738.4(VAPB):c.137C>T (p.Thr46Ile) rs281875284
NM_004738.4(VAPB):c.166C>T (p.Pro56Ser) rs74315431
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056
NM_005189.3(CBX2):c.1328G>C (p.Arg443Pro) rs121908256
NM_005189.3(CBX2):c.293C>T (p.Pro98Leu) rs121908255
NM_005262.3(GFER):c.581G>A (p.Arg194His) rs121908192
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_005359.5(SMAD4):c.1054G>A (p.Gly352Arg) rs121912581
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.5(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.5(SMAD4):c.1500A>G (p.Ile500Met) rs281875320
NM_005359.5(SMAD4):c.38A>G (p.Asn13Ser) rs281875323
NM_005359.5(SMAD4):c.989A>G (p.Glu330Gly) rs281875324
NM_005546.3(ITK):c.1003C>T (p.Arg335Trp) rs121908191
NM_006080.3(SEMA3A):c.1198A>G (p.Ile400Val) rs36026860
NM_006080.3(SEMA3A):c.1303G>A (p.Val435Ile) rs147436181
NM_006080.3(SEMA3A):c.196C>T (p.Arg66Trp) rs199979628
NM_006080.3(SEMA3A):c.2062A>G (p.Thr688Ala) rs318240751
NM_006080.3(SEMA3A):c.2189G>A (p.Arg730Gln) rs318240752
NM_006080.3(SEMA3A):c.2198G>A (p.Arg733His) rs318240753
NM_006080.3(SEMA3A):c.458A>G (p.Asn153Ser) rs139295139
NM_006118.3(HAX1):c.389T>G (p.Leu130Arg) rs179363871
NM_006118.3(HAX1):c.421T>C (p.Phe141Leu) rs179363870
NM_006118.3(HAX1):c.514G>A (p.Val172Ile) rs141970914
NM_006129.5(BMP1):c.34G>C (p.Gly12Arg) rs318240762
NM_006208.3(ENPP1):c.2702A>C (p.Tyr901Ser) rs121908249
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) rs121908248
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg) rs121918375
NM_006907.4(PYCR1):c.743G>A (p.Gly248Glu) rs281875319
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) rs281875318
NM_006920.6(SCN1A):c.1028G>A (p.Gly343Asp) rs121918753
NM_006920.6(SCN1A):c.1066A>G (p.Arg356Gly) rs121917920
NM_006920.6(SCN1A):c.1072C>A (p.Pro358Thr) rs121917923
NM_006920.6(SCN1A):c.1098T>A (p.Asp366Glu) rs121917958
NM_006920.6(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_006920.6(SCN1A):c.1149C>G (p.Phe383Leu) rs121917939
NM_006920.6(SCN1A):c.1162T>C (p.Tyr388His) rs121918781
NM_006920.6(SCN1A):c.1177C>A (p.Arg393Ser) rs121917929
NM_006920.6(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_006920.6(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_006920.6(SCN1A):c.1183G>C (p.Ala395Pro) rs121917988
NM_006920.6(SCN1A):c.1207T>C (p.Phe403Leu) rs121917966
NM_006920.6(SCN1A):c.1216G>T (p.Val406Phe) rs121918768
NM_006920.6(SCN1A):c.1237T>A (p.Tyr413Asn) rs121917967
NM_006920.6(SCN1A):c.1265T>A (p.Val422Glu) rs121917989
NM_006920.6(SCN1A):c.1276T>A (p.Tyr426Asn) rs121917940
NM_006920.6(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_006920.6(SCN1A):c.1876A>G (p.Ser626Gly) rs121917990
NM_006920.6(SCN1A):c.187T>C (p.Phe63Leu) rs121917907
NM_006920.6(SCN1A):c.220T>C (p.Ser74Pro) rs121917931
NM_006920.6(SCN1A):c.2315T>C (p.Leu772Pro) rs121917968
NM_006920.6(SCN1A):c.2336A>G (p.Tyr779Cys) rs121918782
NM_006920.6(SCN1A):c.234G>T (p.Glu78Asp) rs121917933
NM_006920.6(SCN1A):c.235G>C (p.Asp79His) rs121917982
NM_006920.6(SCN1A):c.2389A>T (p.Thr797Ser) rs121918758
NM_006920.6(SCN1A):c.2402C>G (p.Thr801Arg) rs121917941
NM_006920.6(SCN1A):c.2503G>A (p.Glu835Lys) rs121917942
NM_006920.6(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_006920.6(SCN1A):c.2542C>T (p.Arg848Cys) rs121918784
NM_006920.6(SCN1A):c.2552G>A (p.Arg851Gln) rs121918785
NM_006920.6(SCN1A):c.2591C>A (p.Thr864Lys) rs121918623
NM_006920.6(SCN1A):c.2591C>T (p.Thr864Met) rs121918623
NM_006920.6(SCN1A):c.2672T>G (p.Phe891Cys) rs121918787
NM_006920.6(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_006920.6(SCN1A):c.272T>C (p.Ile91Thr) rs121918734
NM_006920.6(SCN1A):c.2758C>T (p.Arg920Cys) rs121918788
NM_006920.6(SCN1A):c.2769G>C (p.Met923Ile) rs121918774
NM_006920.6(SCN1A):c.2782C>T (p.His928Tyr) rs121918736
NM_006920.6(SCN1A):c.2784C>G (p.His928Gln) rs121918795
NM_006920.6(SCN1A):c.2792T>C (p.Leu931Pro) rs121917943
NM_006920.6(SCN1A):c.2798T>C (p.Val933Ala) rs121917969
NM_006920.6(SCN1A):c.2800T>C (p.Phe934Leu) rs121917970
NM_006920.6(SCN1A):c.2803C>A (p.Arg935Ser) rs121918775
NM_006920.6(SCN1A):c.2803C>T (p.Arg935Cys) rs121918775
NM_006920.6(SCN1A):c.2804G>A (p.Arg935His) rs121917971
NM_006920.6(SCN1A):c.2816G>A (p.Gly939Glu) rs121917972
NM_006920.6(SCN1A):c.2821T>G (p.Trp941Gly) rs121918737
NM_006920.6(SCN1A):c.2827G>A (p.Glu943Lys) rs121918786
NM_006920.6(SCN1A):c.2837G>T (p.Trp946Leu) rs121917917
NM_006920.6(SCN1A):c.2842T>C (p.Cys948Arg) rs121918796
NM_006920.6(SCN1A):c.2845A>G (p.Met949Val) rs121918750
NM_006920.6(SCN1A):c.2884A>G (p.Met962Val) rs121917991
NM_006920.6(SCN1A):c.2902G>A (p.Gly968Arg) rs121918754
NM_006920.6(SCN1A):c.2915T>C (p.Val972Ala) rs121918756
NM_006920.6(SCN1A):c.2921A>T (p.Asn974Ile) rs121918747
NM_006920.6(SCN1A):c.2923C>T (p.Leu975Phe) rs121918625
NM_006920.6(SCN1A):c.2999A>T (p.Asn1000Ile) rs121918759
NM_006920.6(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_006920.6(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_006920.6(SCN1A):c.307A>G (p.Ser103Gly) rs121918743
NM_006920.6(SCN1A):c.335C>T (p.Thr112Ile) rs121918745
NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.6(SCN1A):c.354G>C (p.Arg118Ser) rs121917959
NM_006920.6(SCN1A):c.3577T>C (p.Trp1193Arg) rs121917930
NM_006920.6(SCN1A):c.3587T>C (p.Leu1196Pro) rs121917963
NM_006920.6(SCN1A):c.3596C>A (p.Thr1199Lys) rs121918738
NM_006920.6(SCN1A):c.3659G>C (p.Ser1220Thr) rs121918800
NM_006920.6(SCN1A):c.3660T>A (p.Ser1220Arg) rs121918746
NM_006920.6(SCN1A):c.3664G>C (p.Gly1222Arg) rs121917911
NM_006920.6(SCN1A):c.3681A>C (p.Glu1227Asp) rs121917973
NM_006920.6(SCN1A):c.3701G>A (p.Arg1234Gln) rs121917912
NM_006920.6(SCN1A):c.371T>A (p.Ile124Asn) rs121918761
NM_006920.6(SCN1A):c.3745A>C (p.Thr1249Pro) rs121918739
NM_006920.6(SCN1A):c.3756C>G (p.Phe1252Leu) rs121918752
NM_006920.6(SCN1A):c.3761T>C (p.Leu1254Pro) rs121918794
NM_006920.6(SCN1A):c.3776A>C (p.Lys1259Thr) rs121918626
NM_006920.6(SCN1A):c.3827T>C (p.Leu1276Pro) rs121918740
NM_006920.6(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.6(SCN1A):c.3892C>T (p.Leu1298Phe) rs121918801
NM_006920.6(SCN1A):c.3943G>C (p.Ala1315Pro) rs121918803
NM_006920.6(SCN1A):c.3970G>A (p.Val1324Met) rs121917960
NM_006920.6(SCN1A):c.4024G>C (p.Val1342Leu) rs121917954
NM_006920.6(SCN1A):c.4031T>C (p.Leu1344Pro) rs121918776
NM_006920.6(SCN1A):c.4040G>C (p.Trp1347Ser) rs121917961
NM_006920.6(SCN1A):c.4063G>A (p.Val1355Ile) rs121918805
NM_006920.6(SCN1A):c.4068T>A (p.Asn1356Lys) rs121918760
NM_006920.6(SCN1A):c.4135G>A (p.Val1379Met) rs121917986
NM_006920.6(SCN1A):c.4153T>G (p.Cys1385Gly) rs121917987
NM_006920.6(SCN1A):c.4207A>T (p.Asn1403Tyr) rs121917925
NM_006920.6(SCN1A):c.4232A>G (p.Tyr1411Cys) rs121917913
NM_006920.6(SCN1A):c.4244T>G (p.Leu1415Arg) rs121917944
NM_006920.6(SCN1A):c.4250T>C (p.Val1417Ala) rs121918627
NM_006920.6(SCN1A):c.4264G>A (p.Gly1422Arg) rs121917908
NM_006920.6(SCN1A):c.4265G>A (p.Gly1422Glu) rs121918741
NM_006920.6(SCN1A):c.4267T>C (p.Trp1423Arg) rs121918789
NM_006920.6(SCN1A):c.4288G>C (p.Ala1430Pro) rs121917974
NM_006920.6(SCN1A):c.4315C>A (p.Gln1439Lys) rs121918806
NM_006920.6(SCN1A):c.4316A>G (p.Gln1439Arg) rs121918790
NM_006920.6(SCN1A):c.4319C>T (p.Pro1440Leu) rs121917945
NM_006920.6(SCN1A):c.4348C>A (p.Leu1450Ile) rs121918772
NM_006920.6(SCN1A):c.434T>C (p.Met145Thr) rs121918631
NM_006920.6(SCN1A):c.4352A>G (p.Tyr1451Cys) rs121917962
NM_006920.6(SCN1A):c.4355T>C (p.Phe1452Ser) rs121917946
NM_006920.6(SCN1A):c.4375G>T (p.Gly1459Trp) rs121917924
NM_006920.6(SCN1A):c.4391T>C (p.Leu1464Ser) rs121917947
NM_006920.6(SCN1A):c.4406G>T (p.Gly1469Val) rs121917996
NM_006920.6(SCN1A):c.4432C>A (p.Gln1478Lys) rs121918628
NM_006920.6(SCN1A):c.4434G>C (p.Gln1478His) rs121918633
NM_006920.6(SCN1A):c.4462T>C (p.Phe1488Leu) rs121918632
NM_006920.6(SCN1A):c.4508T>C (p.Leu1503Ser) rs121918764
NM_006920.6(SCN1A):c.4595T>C (p.Phe1532Ser) rs121917992
NM_006920.6(SCN1A):c.4600A>G (p.Ile1534Val) rs121917975
NM_006920.6(SCN1A):c.4690C>T (p.Arg1564Cys) rs121918807
NM_006920.6(SCN1A):c.4724G>A (p.Gly1575Glu) rs121918742
NM_006920.6(SCN1A):c.4729T>C (p.Cys1577Arg) rs121917919
NM_006920.6(SCN1A):c.4753C>T (p.Arg1585Cys) rs121917993
NM_006920.6(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.6(SCN1A):c.4798G>T (p.Val1600Phe) rs121918630
NM_006920.6(SCN1A):c.4801G>A (p.Val1601Ile) rs121918808
NM_006920.6(SCN1A):c.484A>C (p.Thr162Pro) rs121917934
NM_006920.6(SCN1A):c.4855G>A (p.Val1619Met) rs121917914
NM_006920.6(SCN1A):c.4861C>T (p.Pro1621Ser) rs121918755
NM_006920.6(SCN1A):c.4874G>A (p.Arg1625Gln) rs121917995
NM_006920.6(SCN1A):c.4877T>A (p.Val1626Glu) rs121918810
NM_006920.6(SCN1A):c.4901G>A (p.Arg1634Gln) rs121917976
NM_006920.6(SCN1A):c.4909C>T (p.Arg1637Cys) rs121918791
NM_006920.6(SCN1A):c.4910G>A (p.Arg1637His) rs121918622
NM_006920.6(SCN1A):c.4935C>G (p.Ile1645Met) rs121917955
NM_006920.6(SCN1A):c.4936C>T (p.Arg1646Cys) rs121918811
NM_006920.6(SCN1A):c.4937G>A (p.Arg1646His) rs121917994
NM_006920.6(SCN1A):c.4940C>G (p.Thr1647Arg) rs121917922
NM_006920.6(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.6(SCN1A):c.4949T>C (p.Phe1650Ser) rs121918797
NM_006920.6(SCN1A):c.4958T>A (p.Met1653Lys) rs121918765
NM_006920.6(SCN1A):c.4969C>G (p.Pro1657Ala) rs121917948
NM_006920.6(SCN1A):c.4987G>C (p.Gly1663Arg) rs121918792
NM_006920.6(SCN1A):c.5021C>A (p.Ala1674Asp) rs121918744
NM_006920.6(SCN1A):c.5021C>T (p.Ala1674Val) rs121918744
NM_006920.6(SCN1A):c.5027T>C (p.Phe1676Ser) rs121917932
NM_006920.6(SCN1A):c.5042T>C (p.Phe1681Ser) rs121918778
NM_006920.6(SCN1A):c.5048A>G (p.Tyr1683Cys) rs121918777
NM_006920.6(SCN1A):c.5086T>G (p.Phe1696Val) rs121917977
NM_006920.6(SCN1A):c.5093C>T (p.Thr1698Ile) rs121918629
NM_006920.6(SCN1A):c.5105G>A (p.Ser1702Asn) rs121918816
NM_006920.6(SCN1A):c.5108T>G (p.Met1703Arg) rs121917949
NM_006920.6(SCN1A):c.5113T>C (p.Cys1705Arg) rs121917926
NM_006920.6(SCN1A):c.5129C>G (p.Thr1710Arg) rs121917978
NM_006920.6(SCN1A):c.512T>A (p.Ile171Lys) rs121918766
NM_006920.6(SCN1A):c.5143T>C (p.Trp1715Arg) rs121917979
NM_006920.6(SCN1A):c.5192A>G (p.Asp1731Gly) rs121918812
NM_006920.6(SCN1A):c.5213G>A (p.Gly1738Glu) rs121918798
NM_006920.6(SCN1A):c.5233T>G (p.Cys1745Gly) rs121918809
NM_006920.6(SCN1A):c.523G>A (p.Ala175Thr) rs121918767
NM_006920.6(SCN1A):c.5252G>A (p.Gly1751Glu) rs121917950
NM_006920.6(SCN1A):c.5285C>T (p.Ser1762Phe) rs121917951
NM_006920.6(SCN1A):c.5306T>C (p.Met1769Thr) rs121917952
NM_006920.6(SCN1A):c.5309A>G (p.Tyr1770Cys) rs121918779
NM_006920.6(SCN1A):c.530G>A (p.Gly177Glu) rs121918770
NM_006920.6(SCN1A):c.5313C>G (p.Ile1771Met) rs121918763
NM_006920.6(SCN1A):c.5314G>A (p.Ala1772Thr) rs121917980
NM_006920.6(SCN1A):c.5315C>T (p.Ala1772Val) rs121917921
NM_006920.6(SCN1A):c.5326G>A (p.Glu1776Lys) rs121917916
NM_006920.6(SCN1A):c.5350G>A (p.Glu1784Lys) rs121918813
NM_006920.6(SCN1A):c.5389T>C (p.Phe1797Leu) rs121918757
NM_006920.6(SCN1A):c.5401T>G (p.Trp1801Gly) rs121918751
NM_006920.6(SCN1A):c.5459T>C (p.Phe1820Ser) rs121918748
NM_006920.6(SCN1A):c.5522T>C (p.Met1841Thr) rs121918783
NM_006920.6(SCN1A):c.5536G>T (p.Val1846Leu) rs121918814
NM_006920.6(SCN1A):c.5563G>T (p.Asp1855Tyr) rs121918815
NM_006920.6(SCN1A):c.5610G>C (p.Glu1870Asp) rs121918804
NM_006920.6(SCN1A):c.563A>T (p.Asp188Val) rs121917953
NM_006920.6(SCN1A):c.568T>C (p.Trp190Arg) rs121918773
NM_006920.6(SCN1A):c.5693C>T (p.Thr1898Ile) rs121918793
NM_006920.6(SCN1A):c.571A>T (p.Asn191Tyr) rs121918762
NM_006920.6(SCN1A):c.5732T>C (p.Ile1911Thr) rs121917981
NM_006920.6(SCN1A):c.5749C>G (p.Arg1917Gly) rs121917956
NM_006920.6(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_006920.6(SCN1A):c.5837A>G (p.Glu1946Gly) rs121918802
NM_006920.6(SCN1A):c.596C>G (p.Thr199Arg) rs121917983
NM_006920.6(SCN1A):c.650C>A (p.Thr217Lys) rs121917936
NM_006920.6(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_006920.6(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_006920.6(SCN1A):c.715G>A (p.Ala239Thr) rs121917985
NM_006920.6(SCN1A):c.716C>T (p.Ala239Val) rs121917909
NM_006920.6(SCN1A):c.755T>A (p.Ile252Asn) rs121918780
NM_006920.6(SCN1A):c.777C>A (p.Ser259Arg) rs121918735
NM_006920.6(SCN1A):c.793G>T (p.Gly265Trp) rs121918749
NM_006920.6(SCN1A):c.80G>C (p.Arg27Thr) rs121917906
NM_006920.6(SCN1A):c.838T>C (p.Trp280Arg) rs121917938
NM_006920.6(SCN1A):c.890C>T (p.Thr297Ile) rs121918771
NM_006920.6(SCN1A):c.965G>T (p.Arg322Ile) rs121917928
NM_006929.5(SKIV2L):c.2572del (p.Gly857_Val858insTer) rs281875237
NM_013251.4(TAC3):c.269T>C (p.Met90Thr) rs121918123
NM_015166.3(MLC1):c.206C>T (p.Ser69Leu) rs281875309
NM_015166.3(MLC1):c.240G>A (p.Met80Ile) rs281875310
NM_015166.3(MLC1):c.250C>T (p.Arg84Cys) rs281875311
NM_015166.3(MLC1):c.353C>G (p.Thr118Arg) rs281875316
NM_015166.3(MLC1):c.373T>C (p.Cys125Arg) rs281875314
NM_015166.3(MLC1):c.634G>A (p.Gly212Arg) rs281875317
NM_015166.3(MLC1):c.733G>C (p.Ala245Pro) rs281875312
NM_015166.3(MLC1):c.736A>C (p.Ser246Arg) rs281875315
NM_015166.3(MLC1):c.959C>A (p.Thr320Lys) rs281875313
NM_018117.12(WDR11):c.1183C>T (p.Arg395Trp) rs201051480
NM_018117.12(WDR11):c.1303G>A (p.Ala435Thr) rs318240760
NM_018117.12(WDR11):c.1343G>A (p.Arg448Gln) rs144440500
NM_018117.12(WDR11):c.2070T>A (p.His690Gln) rs318240761
NM_018117.12(WDR11):c.2932A>C (p.Lys978Gln) rs144531702
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744
NM_019885.3(CYP26B1):c.1088G>T (p.Arg363Leu) rs281875231
NM_019885.3(CYP26B1):c.436T>C (p.Ser146Pro) rs281875232
NM_020956.2(PRX):c.*2156G>A rs3814290
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys) rs318240759
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) rs146902156
NM_030787.3(CFHR5):c.1135G>C (p.Val379Leu) rs111327589
NM_030787.3(CFHR5):c.1308G>T (p.Trp436Cys) rs201265664
NM_030787.3(CFHR5):c.314T>G (p.Leu105Arg) rs318240754
NM_030787.3(CFHR5):c.583T>A (p.Ser195Thr) rs318240755
NM_030787.3(CFHR5):c.829T>A (p.Tyr277Asn) rs318240756
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp) rs281875208
NM_080669.6(SLC46A1):c.1012G>C (p.Gly338Arg) rs281875209
NM_080669.6(SLC46A1):c.1126C>T (p.Arg376Trp) rs80338773
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln) rs281875211
NM_080669.6(SLC46A1):c.1274C>G (p.Pro425Arg) rs80338774
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser) rs80338770
NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys) rs80338770
NM_080669.6(SLC46A1):c.439G>C (p.Gly147Arg) rs80338771
NM_080669.6(SLC46A1):c.466G>T (p.Asp156Tyr) rs281875210
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg) rs80338772
NM_130468.3(CHST14):c.638G>C (p.Arg213Pro) rs121908257
NM_130468.3(CHST14):c.878A>G (p.Tyr293Cys) rs121908258
NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser) rs121908250
NM_133459.4(CCBE1):c.305G>C (p.Cys102Ser) rs121908251
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253
NM_133459.4(CCBE1):c.520T>C (p.Cys174Arg) rs121908254
NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg) rs121908252
NM_139025.4(ADAMTS13):c.1039T>A (p.Cys347Ser) rs281875294
NM_139025.4(ADAMTS13):c.1045C>T (p.Arg349Cys) rs281875288
NM_139025.4(ADAMTS13):c.1058C>T (p.Pro353Leu) rs281875338
NM_139025.4(ADAMTS13):c.1170G>C (p.Trp390Cys) rs281875306
NM_139025.4(ADAMTS13):c.1520G>A (p.Arg507Gln) rs281875296
NM_139025.4(ADAMTS13):c.1523G>A (p.Cys508Tyr) rs281875305
NM_139025.4(ADAMTS13):c.1574G>A (p.Gly525Asp) rs281875286
NM_139025.4(ADAMTS13):c.1787C>T (p.Ala596Val) rs281875299
NM_139025.4(ADAMTS13):c.1816G>C (p.Ala606Pro) rs281875290
NM_139025.4(ADAMTS13):c.1973A>G (p.Tyr658Cys) rs281875335
NM_139025.4(ADAMTS13):c.2012C>T (p.Pro671Leu) rs281875295
NM_139025.4(ADAMTS13):c.2017A>T (p.Ile673Phe) rs281875307
NM_139025.4(ADAMTS13):c.2272T>C (p.Cys758Arg) rs281875300
NM_139025.4(ADAMTS13):c.237C>G (p.Ile79Met) rs281875297
NM_139025.4(ADAMTS13):c.262G>A (p.Val88Met) rs281875302
NM_139025.4(ADAMTS13):c.2723G>A (p.Cys908Tyr) rs281875301
NM_139025.4(ADAMTS13):c.2723G>C (p.Cys908Ser) rs281875301
NM_139025.4(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218
NM_139025.4(ADAMTS13):c.3367C>T (p.Arg1123Cys) rs281875340
NM_139025.4(ADAMTS13):c.356C>T (p.Ser119Phe) rs281875291
NM_139025.4(ADAMTS13):c.3655C>T (p.Arg1219Trp) rs281875339
NM_139025.4(ADAMTS13):c.3716G>T (p.Gly1239Val) rs281875303
NM_139025.4(ADAMTS13):c.3941C>T (p.Ser1314Leu) rs142060916
NM_139025.4(ADAMTS13):c.4006C>T (p.Arg1336Trp) rs281875308
NM_139025.4(ADAMTS13):c.533T>C (p.Ile178Thr) rs281875289
NM_139025.4(ADAMTS13):c.577C>T (p.Arg193Trp) rs281875287
NM_139025.4(ADAMTS13):c.607T>C (p.Ser203Pro) rs281875298
NM_139025.4(ADAMTS13):c.695T>A (p.Leu232Gln) rs281875292
NM_139025.4(ADAMTS13):c.702C>A (p.His234Gln) rs281875304
NM_139025.4(ADAMTS13):c.703G>C (p.Asp235His) rs281875337
NM_139025.4(ADAMTS13):c.788C>G (p.Ser263Cys) rs281875293
NM_139025.4(ADAMTS13):c.911A>G (p.Tyr304Cys) rs281875285
NM_139025.4(ADAMTS13):c.932G>A (p.Cys311Tyr) rs281875336
NM_144966.5(FREM1):c.1493G>A (p.Arg498Gln) rs184394424
NM_144966.5(FREM1):c.1945C>T (p.Arg649Trp) rs121912609
NM_144966.5(FREM1):c.3971T>G (p.Leu1324Arg) rs281875281
NM_144966.5(FREM1):c.4318G>A (p.Gly1440Ser) rs121912610
NM_144966.5(FREM1):c.4499A>T (p.Glu1500Val) rs281875280
NM_144966.5(FREM1):c.6271G>A (p.Val2091Ile) rs281875282
NM_145068.4(TRPV3):c.1717G>A (p.Gly573Ser) rs199473704
NM_145068.4(TRPV3):c.1717G>T (p.Gly573Cys) rs199473704
NM_145068.4(TRPV3):c.2074T>G (p.Trp692Gly) rs199473705
NM_173630.4(RTTN):c.2796A>T (p.Leu932Phe) rs318240757
NM_173630.4(RTTN):c.80G>A (p.Cys27Tyr) rs201884120

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