ClinVar Miner

List of variants in gene FKTN

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 321
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HGVS dbSNP
FKTN, 1-BP DEL, 42G
FKTN, 473-BP DEL, NT5370
FKTN, L1 INS
GRCh37/hg19 9q31.2(chr9:108331166-108394748)x1
NC_000009.11:g.(?_108337304)_(108358948_?)dup
NC_000009.12:g.105574673_105574675del
NC_000009.12:g.105617674_105617677del
NM_001079802.1(FKTN):c.*4375_*4376ins3062
NM_001079802.1(FKTN):c.528dupT
NM_001079802.1(FKTN):c.657dup (p.Gln220Thrfs) rs1554754678
NM_006731.2(FKTN):c.*1017A>G rs886063324
NM_006731.2(FKTN):c.*1018T>A rs16924759
NM_006731.2(FKTN):c.*1133A>G rs2768282
NM_006731.2(FKTN):c.*1249C>T rs79589823
NM_006731.2(FKTN):c.*1276C>T rs886063325
NM_006731.2(FKTN):c.*1511A>G rs886063326
NM_006731.2(FKTN):c.*1681G>A rs886063327
NM_006731.2(FKTN):c.*1845G>T rs886063328
NM_006731.2(FKTN):c.*2265T>C rs76003803
NM_006731.2(FKTN):c.*2280T>C rs1024366
NM_006731.2(FKTN):c.*2433G>A rs886063329
NM_006731.2(FKTN):c.*2505A>G rs367988702
NM_006731.2(FKTN):c.*2508G>T rs886063330
NM_006731.2(FKTN):c.*2516G>T rs886063331
NM_006731.2(FKTN):c.*2904G>A rs138806979
NM_006731.2(FKTN):c.*2910C>A rs148937517
NM_006731.2(FKTN):c.*2984C>T rs886063332
NM_006731.2(FKTN):c.*3046T>C rs886063333
NM_006731.2(FKTN):c.*3156A>T rs886063334
NM_006731.2(FKTN):c.*324G>C rs536822992
NM_006731.2(FKTN):c.*3377A>G rs148172557
NM_006731.2(FKTN):c.*3432dup rs879020291
NM_006731.2(FKTN):c.*3547C>T rs886063336
NM_006731.2(FKTN):c.*3861T>C rs185745657
NM_006731.2(FKTN):c.*3918A>G rs17316607
NM_006731.2(FKTN):c.*4238del rs776272545
NM_006731.2(FKTN):c.*42del rs749100291
NM_006731.2(FKTN):c.*436C>T rs886063322
NM_006731.2(FKTN):c.*4388del rs148253503
NM_006731.2(FKTN):c.*4392_*4393insAB185332.1
NM_006731.2(FKTN):c.*4599G>A rs886063338
NM_006731.2(FKTN):c.*4825T>C rs115155934
NM_006731.2(FKTN):c.*4859A>G rs1554768242
NM_006731.2(FKTN):c.*4859A>T rs1554768242
NM_006731.2(FKTN):c.*4940C>G rs886063339
NM_006731.2(FKTN):c.*5003T>G rs886063340
NM_006731.2(FKTN):c.*5041G>A rs1854124
NM_006731.2(FKTN):c.*5062G>A rs1854125
NM_006731.2(FKTN):c.*5161C>T rs886063341
NM_006731.2(FKTN):c.*5260G>T rs2010861
NM_006731.2(FKTN):c.*5303dup rs879263714
NM_006731.2(FKTN):c.*5356C>T rs553575648
NM_006731.2(FKTN):c.*5517T>C rs114655654
NM_006731.2(FKTN):c.*5578G>A rs41277801
NM_006731.2(FKTN):c.*5618T>A rs1048215
NM_006731.2(FKTN):c.*5817A>C rs886063343
NM_006731.2(FKTN):c.*786T>G rs10978177
NM_006731.2(FKTN):c.*818C>T rs79162268
NM_006731.2(FKTN):c.*954T>A rs886063323
NM_006731.2(FKTN):c.-107C>T
NM_006731.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
NM_006731.2(FKTN):c.-45G>T rs77013649
NM_006731.2(FKTN):c.-77A>G rs188804693
NM_006731.2(FKTN):c.-7C>G rs762110230
NM_006731.2(FKTN):c.-88-1200del rs727502845
NM_006731.2(FKTN):c.-88-1206T>C rs151250905
NM_006731.2(FKTN):c.-88-1218A>T rs191502146
NM_006731.2(FKTN):c.-88-1246A>G rs886063318
NM_006731.2(FKTN):c.-88-1268G>C rs4742953
NM_006731.2(FKTN):c.-88-247T>A
NM_006731.2(FKTN):c.-88-6T>C rs115730708
NM_006731.2(FKTN):c.-89+1G>C rs574535599
NM_006731.2(FKTN):c.-89+1G>T rs574535599
NM_006731.2(FKTN):c.-99del rs138776494
NM_006731.2(FKTN):c.1009G>T (p.Asp337Tyr) rs752721354
NM_006731.2(FKTN):c.1021C>T (p.Pro341Ser) rs886044385
NM_006731.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_006731.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_006731.2(FKTN):c.102A>C (p.Thr34=) rs138740640
NM_006731.2(FKTN):c.1044+44A>G rs118064041
NM_006731.2(FKTN):c.1044+58C>T
NM_006731.2(FKTN):c.1045-40C>A rs145883833
NM_006731.2(FKTN):c.1046T>C (p.Val349Ala) rs539089647
NM_006731.2(FKTN):c.105+129del
NM_006731.2(FKTN):c.105+36_105+39del rs398123554
NM_006731.2(FKTN):c.1056C>G (p.Ser352Arg) rs149085844
NM_006731.2(FKTN):c.106-10G>A rs148384394
NM_006731.2(FKTN):c.106-169A>G
NM_006731.2(FKTN):c.106-18C>T rs748663594
NM_006731.2(FKTN):c.106-2A>G rs1554748292
NM_006731.2(FKTN):c.106-40A>G rs79175958
NM_006731.2(FKTN):c.1073A>C (p.Gln358Pro) rs119463993
NM_006731.2(FKTN):c.1086T>A (p.Asp362Glu)
NM_006731.2(FKTN):c.1099del (p.Val367fs) rs1554761310
NM_006731.2(FKTN):c.109G>T (p.Gly37Ter) rs773884973
NM_006731.2(FKTN):c.10A>C (p.Ile4Leu) rs757900916
NM_006731.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_006731.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_006731.2(FKTN):c.1129A>G (p.Met377Val) rs1200757732
NM_006731.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402
NM_006731.2(FKTN):c.1135A>G (p.Asn379Asp)
NM_006731.2(FKTN):c.1153A>T (p.Lys385Ter)
NM_006731.2(FKTN):c.1158A>G (p.Thr386=) rs886044528
NM_006731.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262
NM_006731.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_006731.2(FKTN):c.1172+13T>C rs768792475
NM_006731.2(FKTN):c.1172+1G>A rs1554761462
NM_006731.2(FKTN):c.1173-1G>A rs557699482
NM_006731.2(FKTN):c.1173-1G>C rs557699482
NM_006731.2(FKTN):c.1173-2A>G rs1554766808
NM_006731.2(FKTN):c.1173-8T>C rs767093535
NM_006731.2(FKTN):c.1174T>C (p.Tyr392His)
NM_006731.2(FKTN):c.1176C>G (p.Tyr392Ter) rs1203741361
NM_006731.2(FKTN):c.1178T>C (p.Leu393Pro) rs374962879
NM_006731.2(FKTN):c.1179G>C (p.Leu393=)
NM_006731.2(FKTN):c.1181T>C (p.Phe394Ser) rs727502849
NM_006731.2(FKTN):c.1185G>A (p.Pro395=) rs141886790
NM_006731.2(FKTN):c.1186A>C (p.Lys396Gln) rs1477740717
NM_006731.2(FKTN):c.1188G>A (p.Lys396=) rs886063320
NM_006731.2(FKTN):c.1195C>T (p.Leu399=) rs768867435
NM_006731.2(FKTN):c.1201del (p.Trp401fs) rs1554766841
NM_006731.2(FKTN):c.1205C>T (p.Thr402Ile)
NM_006731.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_006731.2(FKTN):c.1224G>T (p.Lys408Asn)
NM_006731.2(FKTN):c.1228C>A (p.His410Asn) rs146272618
NM_006731.2(FKTN):c.1236C>A (p.Pro412=) rs1554766880
NM_006731.2(FKTN):c.1248C>T (p.Leu416=) rs774804160
NM_006731.2(FKTN):c.1249G>A (p.Glu417Lys) rs765934383
NM_006731.2(FKTN):c.1249G>T (p.Glu417Ter) rs765934383
NM_006731.2(FKTN):c.124A>G (p.Lys42Glu)
NM_006731.2(FKTN):c.1250A>T (p.Glu417Val) rs543684877
NM_006731.2(FKTN):c.1260A>G (p.Glu420=)
NM_006731.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)
NM_006731.2(FKTN):c.1264_1286del (p.Asn422fs) rs1554766898
NM_006731.2(FKTN):c.1269T>C (p.Tyr423=) rs1554766906
NM_006731.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_006731.2(FKTN):c.1298C>T (p.Thr433Met)
NM_006731.2(FKTN):c.12C>G (p.Ile4Met)
NM_006731.2(FKTN):c.12C>T (p.Ile4=) rs1389073650
NM_006731.2(FKTN):c.1312C>T (p.Arg438Cys) rs150852885
NM_006731.2(FKTN):c.1315_1316TC[3] (p.Pro440fs) rs886042778
NM_006731.2(FKTN):c.1319C>T (p.Pro440Leu) rs1564357396
NM_006731.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_006731.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618
NM_006731.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_006731.2(FKTN):c.1363del (p.Asp455fs) rs587777814
NM_006731.2(FKTN):c.1371_1381dup (p.Tyr461fs) rs727502847
NM_006731.2(FKTN):c.1380dup (p.Tyr461fs)
NM_006731.2(FKTN):c.1383T>C (p.Tyr461=)
NM_006731.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990
NM_006731.2(FKTN):c.13A>G (p.Asn5Asp)
NM_006731.2(FKTN):c.140G>A (p.Arg47Gln)
NM_006731.2(FKTN):c.143T>C (p.Ile48Thr) rs886044478
NM_006731.2(FKTN):c.14A>G (p.Asn5Ser)
NM_006731.2(FKTN):c.154A>G (p.Ser52Gly) rs1064796459
NM_006731.2(FKTN):c.165+29A>G rs374371294
NM_006731.2(FKTN):c.166-12T>A rs1419099088
NM_006731.2(FKTN):c.166-4A>G rs193922689
NM_006731.2(FKTN):c.166-6A>G rs41277795
NM_006731.2(FKTN):c.166-9C>T rs1361772036
NM_006731.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_006731.2(FKTN):c.167G>A (p.Arg56His) rs146951171
NM_006731.2(FKTN):c.170C>T (p.Ala57Val) rs1554751104
NM_006731.2(FKTN):c.175_180del (p.Lys59_Lys60del) rs1554751112
NM_006731.2(FKTN):c.180A>G (p.Lys60=) rs886042513
NM_006731.2(FKTN):c.187_188del (p.Met63fs) rs587777813
NM_006731.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle) rs1554751136
NM_006731.2(FKTN):c.198C>G (p.Ser66=) rs367868644
NM_006731.2(FKTN):c.21C>T (p.Asn7=) rs564632018
NM_006731.2(FKTN):c.220C>A (p.Leu74Ile) rs1060501407
NM_006731.2(FKTN):c.22G>A (p.Val8Met)
NM_006731.2(FKTN):c.22G>T (p.Val8Leu) rs368981218
NM_006731.2(FKTN):c.258C>T (p.Asn86=) rs1554751233
NM_006731.2(FKTN):c.25G>T (p.Val9Phe) rs145387221
NM_006731.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319
NM_006731.2(FKTN):c.285T>C (p.His95=) rs148046151
NM_006731.2(FKTN):c.292A>G (p.Thr98Ala)
NM_006731.2(FKTN):c.293C>G (p.Thr98Ser) rs376452959
NM_006731.2(FKTN):c.293C>T (p.Thr98Ile) rs376452959
NM_006731.2(FKTN):c.296C>T (p.Ser99Leu) rs768260007
NM_006731.2(FKTN):c.29T>C (p.Leu10Ser)
NM_006731.2(FKTN):c.300A>G (p.Gln100=)
NM_006731.2(FKTN):c.301T>C (p.Cys101Arg) rs886044095
NM_006731.2(FKTN):c.30G>A (p.Leu10=) rs202047149
NM_006731.2(FKTN):c.314G>T (p.Cys105Phe) rs786205597
NM_006731.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_006731.2(FKTN):c.333T>C (p.Thr111=) rs141729611
NM_006731.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_006731.2(FKTN):c.342A>G (p.Ala114=) rs368598407
NM_006731.2(FKTN):c.346C>T (p.Gln116Ter) rs119463991
NM_006731.2(FKTN):c.34C>G (p.Leu12Val) rs939985733
NM_006731.2(FKTN):c.355C>T (p.Leu119=) rs1554751390
NM_006731.2(FKTN):c.357A>G (p.Leu119=) rs760933616
NM_006731.2(FKTN):c.360G>A (p.Trp120Ter) rs1564284467
NM_006731.2(FKTN):c.366T>G (p.Asn122Lys) rs150591365
NM_006731.2(FKTN):c.369+1G>C
NM_006731.2(FKTN):c.369+1G>T rs764125009
NM_006731.2(FKTN):c.369+43C>T rs398123556
NM_006731.2(FKTN):c.369+4A>G
NM_006731.2(FKTN):c.369+6T>G rs1554751423
NM_006731.2(FKTN):c.370-2A>G rs1554752805
NM_006731.2(FKTN):c.370-50T>C rs139910824
NM_006731.2(FKTN):c.370-7G>A rs797045577
NM_006731.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_006731.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_006731.2(FKTN):c.382C>T (p.Arg128Trp) rs767026996
NM_006731.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441
NM_006731.2(FKTN):c.393G>A (p.Glu131=) rs1472560195
NM_006731.2(FKTN):c.397A>G (p.Met133Val) rs569778463
NM_006731.2(FKTN):c.400G>A (p.Gly134Arg) rs1554752862
NM_006731.2(FKTN):c.402A>T (p.Gly134=) rs780921233
NM_006731.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs) rs1564290459
NM_006731.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_006731.2(FKTN):c.411C>T (p.Cys137=) rs537001725
NM_006731.2(FKTN):c.41C>T (p.Thr14Met) rs149033995
NM_006731.2(FKTN):c.429del (p.Asp144fs) rs1057516258
NM_006731.2(FKTN):c.42G>A (p.Thr14=) rs78794935
NM_006731.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512
NM_006731.2(FKTN):c.432del (p.Arg146fs)
NM_006731.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939
NM_006731.2(FKTN):c.439C>A (p.Leu147Ile) rs727502846
NM_006731.2(FKTN):c.443A>G (p.Asp148Gly) rs773305645
NM_006731.2(FKTN):c.444C>T (p.Asp148=) rs759808323
NM_006731.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690
NM_006731.2(FKTN):c.448A>G (p.Ile150Val) rs886044482
NM_006731.2(FKTN):c.454dup (p.Ser152fs) rs587777748
NM_006731.2(FKTN):c.456_457del (p.Ser154fs) rs760731888
NM_006731.2(FKTN):c.457C>G (p.Leu153Val) rs977350409
NM_006731.2(FKTN):c.482A>G (p.His161Arg) rs727502848
NM_006731.2(FKTN):c.485A>G (p.Tyr162Cys) rs886044210
NM_006731.2(FKTN):c.489C>G (p.Ile163Met) rs980208971
NM_006731.2(FKTN):c.508G>A (p.Ala170Thr) rs778818366
NM_006731.2(FKTN):c.509C>A (p.Ala170Glu) rs119464997
NM_006731.2(FKTN):c.510G>A (p.Ala170=) rs187804924
NM_006731.2(FKTN):c.511A>T (p.Ile171Phe)
NM_006731.2(FKTN):c.526T>G (p.Phe176Val) rs746813994
NM_006731.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_006731.2(FKTN):c.531T>A (p.His177Gln) rs534638144
NM_006731.2(FKTN):c.536G>C (p.Arg179Thr) rs119463994
NM_006731.2(FKTN):c.545A>G (p.Asn182Ser)
NM_006731.2(FKTN):c.556C>T (p.His186Tyr)
NM_006731.2(FKTN):c.557A>G (p.His186Arg) rs1448279636
NM_006731.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499
NM_006731.2(FKTN):c.569G>A (p.Arg190Lys)
NM_006731.2(FKTN):c.584T>C (p.Ile195Thr)
NM_006731.2(FKTN):c.586G>T (p.Asp196Tyr) rs756748012
NM_006731.2(FKTN):c.588C>T (p.Asp196=) rs1222153269
NM_006731.2(FKTN):c.58T>G (p.Phe20Val) rs1554731003
NM_006731.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506
NM_006731.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_006731.2(FKTN):c.623G>A (p.Gly208Asp) rs778048703
NM_006731.2(FKTN):c.625C>T (p.Arg209Cys) rs749576551
NM_006731.2(FKTN):c.626G>A (p.Arg209His) rs771109111
NM_006731.2(FKTN):c.63G>C (p.Leu21=) rs766642997
NM_006731.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_006731.2(FKTN):c.643G>C (p.Asp215His) rs745975808
NM_006731.2(FKTN):c.647+12G>A rs372589966
NM_006731.2(FKTN):c.648-1003T>G
NM_006731.2(FKTN):c.648-1016C>G
NM_006731.2(FKTN):c.648-1040G>A
NM_006731.2(FKTN):c.648-1109TC[5]
NM_006731.2(FKTN):c.648-1243G>T rs1554754182
NM_006731.2(FKTN):c.648-1278A>C
NM_006731.2(FKTN):c.648-129T>A
NM_006731.2(FKTN):c.648-1404C>T
NM_006731.2(FKTN):c.648-8G>T rs754786678
NM_006731.2(FKTN):c.658_661del (p.Gln220fs) rs1057517160
NM_006731.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_006731.2(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_006731.2(FKTN):c.694C>T (p.Pro232Ser)
NM_006731.2(FKTN):c.699G>C (p.Lys233Asn) rs886042669
NM_006731.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195
NM_006731.2(FKTN):c.706A>G (p.Met236Val) rs886042241
NM_006731.2(FKTN):c.719_721AAG[1] (p.Glu241del) rs1437925297
NM_006731.2(FKTN):c.727C>T (p.Pro243Ser) rs1564301303
NM_006731.2(FKTN):c.748T>C (p.Cys250Arg) rs398123558
NM_006731.2(FKTN):c.756T>A (p.Tyr252Ter) rs1564301594
NM_006731.2(FKTN):c.757A>G (p.Lys253Glu) rs886044467
NM_006731.2(FKTN):c.75G>A (p.Leu25=) rs188900946
NM_006731.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_006731.2(FKTN):c.76_78TAC[2] (p.Tyr28del) rs1554731028
NM_006731.2(FKTN):c.770C>T (p.Ala257Val) rs886044660
NM_006731.2(FKTN):c.770del (p.Ala257fs) rs1057516966
NM_006731.2(FKTN):c.780+129T>C
NM_006731.2(FKTN):c.780+1G>A rs370819786
NM_006731.2(FKTN):c.780+2T>C
NM_006731.2(FKTN):c.780G>A (p.Gln260=) rs1459814015
NM_006731.2(FKTN):c.781-263C>T
NM_006731.2(FKTN):c.781-9T>C rs370564232
NM_006731.2(FKTN):c.787C>G (p.Leu263Val)
NM_006731.2(FKTN):c.7A>G (p.Arg3Gly) rs1037406947
NM_006731.2(FKTN):c.802G>T (p.Val268Leu) rs878854165
NM_006731.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116
NM_006731.2(FKTN):c.822G>T (p.Arg274=) rs997235832
NM_006731.2(FKTN):c.83A>G (p.Tyr28Cys) rs374203636
NM_006731.2(FKTN):c.854C>T (p.Ala285Val) rs137951613
NM_006731.2(FKTN):c.855G>A (p.Ala285=) rs1057521448
NM_006731.2(FKTN):c.867C>T (p.Asn289=) rs1554757882
NM_006731.2(FKTN):c.868A>T (p.Lys290Ter)
NM_006731.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516
NM_006731.2(FKTN):c.877G>C (p.Val293Leu)
NM_006731.2(FKTN):c.885C>G (p.Phe295Leu) rs1564319328
NM_006731.2(FKTN):c.895A>C (p.Ser299Arg) rs367662190
NM_006731.2(FKTN):c.905G>A (p.Cys302Tyr) rs1554757939
NM_006731.2(FKTN):c.910+13C>T rs375259473
NM_006731.2(FKTN):c.910+14G>A rs76180538
NM_006731.2(FKTN):c.910+19T>G rs771773538
NM_006731.2(FKTN):c.911-13A>G rs766103012
NM_006731.2(FKTN):c.911-18dup rs757992747
NM_006731.2(FKTN):c.911-1G>A
NM_006731.2(FKTN):c.911-236G>A
NM_006731.2(FKTN):c.911-8C>A rs749557617
NM_006731.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
NM_006731.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814
NM_006731.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992
NM_006731.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304
NM_006731.2(FKTN):c.92A>G (p.Tyr31Cys)
NM_006731.2(FKTN):c.938C>T (p.Pro313Leu)
NM_006731.2(FKTN):c.941A>G (p.Tyr314Cys) rs1451453111
NM_006731.2(FKTN):c.952G>A (p.Val318Ile) rs141120187

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