NM_001079802.2(FKTN):c.1026C>A (p.Leu342=)
|
rs17309806
|
0.27837
|
NM_001079802.2(FKTN):c.-158G>C
|
rs4742953
|
0.27121
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.25357
|
NM_001079802.2(FKTN):c.*5618T>A
|
rs1048215
|
0.12282
|
NM_001079802.2(FKTN):c.*786T>G
|
rs10978177
|
0.12279
|
NM_001079802.2(FKTN):c.*1133A>G
|
rs2768282
|
0.12157
|
NM_001079802.2(FKTN):c.*2280T>C
|
rs1024366
|
0.12115
|
NM_001079802.2(FKTN):c.*5260G>T
|
rs2010861
|
0.11975
|
NM_001079802.2(FKTN):c.*5041G>A
|
rs1854124
|
0.11478
|
NM_001079802.2(FKTN):c.*5062G>A
|
rs1854125
|
0.07482
|
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser)
|
rs34006675
|
0.03359
|
NM_001079802.2(FKTN):c.*3778T>C
|
rs79831528
|
0.02904
|
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys)
|
rs41277797
|
0.02093
|
NM_001079802.2(FKTN):c.*4825T>C
|
rs115155934
|
0.01517
|
NM_001079802.2(FKTN):c.*2298C>G
|
rs116107812
|
0.01491
|
NM_001079802.2(FKTN):c.*5517T>C
|
rs114655654
|
0.01215
|
NM_001079802.2(FKTN):c.*818C>T
|
rs79162268
|
0.01167
|
NM_001079802.2(FKTN):c.*1638A>G
|
rs78462952
|
0.00980
|
NM_001079802.2(FKTN):c.*4491T>C
|
rs41316524
|
0.00811
|
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp)
|
rs41313301
|
0.00809
|
NM_001079802.2(FKTN):c.166-6A>G
|
rs41277795
|
0.00808
|
NM_001079802.2(FKTN):c.910+14G>A
|
rs76180538
|
0.00806
|
NM_001079802.2(FKTN):c.*5578G>A
|
rs41277801
|
0.00776
|
NM_001079802.2(FKTN):c.*1229A>G
|
rs116549376
|
0.00711
|
NM_001079802.2(FKTN):c.*2213A>G
|
rs141298287
|
0.00678
|
NM_001079802.2(FKTN):c.*2427G>T
|
rs116364105
|
0.00472
|
NM_001079802.2(FKTN):c.*2265T>C
|
rs76003803
|
0.00304
|
NM_001079802.2(FKTN):c.*3861T>C
|
rs185745657
|
0.00292
|
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala)
|
rs141918432
|
0.00228
|
NM_001079802.2(FKTN):c.*2592T>C
|
rs538086095
|
0.00220
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
NM_001079802.2(FKTN):c.-88-6T>C
|
rs115730708
|
0.00212
|
NM_001079802.2(FKTN):c.*1018T>A
|
rs16924759
|
0.00204
|
NM_001079802.2(FKTN):c.-96T>C
|
rs151250905
|
0.00201
|
NM_001079802.2(FKTN):c.*3460G>A
|
rs539474742
|
0.00168
|
NM_001079802.2(FKTN):c.*3918A>G
|
rs17316607
|
0.00167
|
NM_001079802.2(FKTN):c.166-4A>G
|
rs193922689
|
0.00125
|
NM_001079802.2(FKTN):c.681G>A (p.Leu227=)
|
rs142604625
|
0.00084
|
NM_001079802.2(FKTN):c.*1010G>A
|
rs144159266
|
0.00068
|
NM_001079802.2(FKTN):c.*712C>T
|
rs535353095
|
0.00062
|
NM_001079802.2(FKTN):c.-77A>G
|
rs188804693
|
0.00057
|
NM_001079802.2(FKTN):c.*100G>A
|
rs542491025
|
0.00055
|
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg)
|
rs148975262
|
0.00051
|
NM_001079802.2(FKTN):c.*2910C>A
|
rs148937517
|
0.00041
|
NM_001079802.2(FKTN):c.*1249C>T
|
rs79589823
|
0.00039
|
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe)
|
rs145387221
|
0.00032
|
NM_001079802.2(FKTN):c.*1843A>T
|
rs117283748
|
0.00026
|
NM_001079802.2(FKTN):c.*3516T>C
|
rs1041010308
|
0.00026
|
NM_001079802.2(FKTN):c.910+13C>T
|
rs375259473
|
0.00026
|
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)
|
rs149033995
|
0.00019
|
NM_001079802.2(FKTN):c.*1845G>T
|
rs886063328
|
0.00016
|
NM_001079802.2(FKTN):c.*5356C>T
|
rs553575648
|
0.00016
|
NM_001079802.2(FKTN):c.*71C>T
|
rs747766931
|
0.00016
|
NM_001079802.2(FKTN):c.*2433G>A
|
rs886063329
|
0.00015
|
NM_001079802.2(FKTN):c.*1017A>G
|
rs886063324
|
0.00014
|
NM_001079802.2(FKTN):c.*1681G>A
|
rs886063327
|
0.00014
|
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln)
|
rs146049441
|
0.00014
|
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser)
|
rs374912618
|
0.00013
|
NM_001079802.2(FKTN):c.*2508G>T
|
rs886063330
|
0.00011
|
NM_001079802.2(FKTN):c.*3547C>T
|
rs886063336
|
0.00011
|
NM_001079802.2(FKTN):c.*3377A>G
|
rs148172557
|
0.00010
|
NM_001079802.2(FKTN):c.*2984C>T
|
rs886063332
|
0.00008
|
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu)
|
rs374381691
|
0.00008
|
NM_001079802.2(FKTN):c.*2254A>G
|
rs764218622
|
0.00006
|
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser)
|
rs776639304
|
0.00006
|
NM_001079802.2(FKTN):c.*954T>A
|
rs886063323
|
0.00005
|
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)
|
rs143748939
|
0.00005
|
NM_001079802.2(FKTN):c.*1175C>T
|
rs996474083
|
0.00004
|
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)
|
rs146272618
|
0.00004
|
NM_001079802.2(FKTN):c.207T>C (p.Asn69=)
|
rs752921570
|
0.00004
|
NM_001079802.2(FKTN):c.397A>G (p.Met133Val)
|
rs569778463
|
0.00004
|
NM_001079802.2(FKTN):c.*1276C>T
|
rs886063325
|
0.00003
|
NM_001079802.2(FKTN):c.*2505A>G
|
rs367988702
|
0.00003
|
NM_001079802.2(FKTN):c.*760A>C
|
rs532531159
|
0.00003
|
NM_001079802.2(FKTN):c.*79C>T
|
rs530616539
|
0.00003
|
NM_001079802.2(FKTN):c.-136A>G
|
rs886063318
|
0.00003
|
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys)
|
rs765934383
|
0.00003
|
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys)
|
rs759936979
|
0.00003
|
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln)
|
rs753641411
|
0.00003
|
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)
|
rs373418195
|
0.00003
|
NM_001079802.2(FKTN):c.*2464G>A
|
rs1054760144
|
0.00002
|
NM_001079802.2(FKTN):c.*3352C>A
|
rs143805719
|
0.00002
|
NM_001079802.2(FKTN):c.-39G>A
|
rs1284252327
|
0.00002
|
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser)
|
rs1429464723
|
0.00002
|
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr)
|
rs772840681
|
0.00002
|
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
|
rs267606814
|
0.00002
|
NM_001079802.2(FKTN):c.*1511A>G
|
rs886063326
|
0.00001
|
NM_001079802.2(FKTN):c.*166A>G
|
rs1419619269
|
0.00001
|
NM_001079802.2(FKTN):c.*324G>C
|
rs536822992
|
0.00001
|
NM_001079802.2(FKTN):c.*4501A>G
|
rs1045549173
|
0.00001
|
NM_001079802.2(FKTN):c.*4599G>A
|
rs886063338
|
0.00001
|
NM_001079802.2(FKTN):c.*462T>C
|
rs1014071784
|
0.00001
|
NM_001079802.2(FKTN):c.*4908A>G
|
rs1834324161
|
0.00001
|
NM_001079802.2(FKTN):c.*4940C>G
|
rs886063339
|
0.00001
|
NM_001079802.2(FKTN):c.*5003T>G
|
rs886063340
|
0.00001
|
NM_001079802.2(FKTN):c.*5161C>T
|
rs886063341
|
0.00001
|
NM_001079802.2(FKTN):c.*777C>A
|
rs369316426
|
0.00001
|
NM_001079802.2(FKTN):c.-114G>A
|
rs1564210000
|
0.00001
|
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)
|
rs1554761402
|
0.00001
|
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser)
|
rs727502849
|
0.00001
|
NM_001079802.2(FKTN):c.1188G>A (p.Lys396=)
|
rs886063320
|
0.00001
|
NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg)
|
rs1833937117
|
0.00001
|
NM_001079802.2(FKTN):c.1299G>A (p.Thr433=)
|
rs912930168
|
0.00001
|
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=)
|
rs904253784
|
0.00001
|
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs)
|
rs775366895
|
0.00001
|
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter)
|
rs119463990
|
0.00001
|
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala)
|
rs886063319
|
0.00001
|
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)
|
rs119463991
|
0.00001
|
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys)
|
rs150591365
|
0.00001
|
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer)
|
rs1309132512
|
0.00001
|
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg)
|
rs200686690
|
0.00001
|
NM_001079802.2(FKTN):c.526T>G (p.Phe176Val)
|
rs746813994
|
0.00001
|
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser)
|
rs1187674499
|
0.00001
|
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)
|
rs746763506
|
0.00001
|
NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly)
|
rs1037406947
|
0.00001
|
NM_001079802.2(FKTN):c.802G>T (p.Val268Leu)
|
rs878854165
|
0.00001
|
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)
|
rs558187116
|
0.00001
|
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)
|
rs119463992
|
0.00001
|
NM_001079802.2(FKTN):c.*2516G>T
|
rs886063331
|
|
NM_001079802.2(FKTN):c.*2640G>C
|
rs556673268
|
|
NM_001079802.2(FKTN):c.*2674A>G
|
rs1834156242
|
|
NM_001079802.2(FKTN):c.*2902C>T
|
rs1834171760
|
|
NM_001079802.2(FKTN):c.*2904G>A
|
rs138806979
|
|
NM_001079802.2(FKTN):c.*3046T>C
|
rs886063333
|
|
NM_001079802.2(FKTN):c.*3156A>T
|
rs886063334
|
|
NM_001079802.2(FKTN):c.*3312T>G
|
rs1343215418
|
|
NM_001079802.2(FKTN):c.*3432dup
|
rs879020291
|
|
NM_001079802.2(FKTN):c.*3985C>T
|
rs1293866364
|
|
NM_001079802.2(FKTN):c.*4238del
|
rs776272545
|
|
NM_001079802.2(FKTN):c.*42del
|
rs749100291
|
|
NM_001079802.2(FKTN):c.*436C>T
|
rs886063322
|
|
NM_001079802.2(FKTN):c.*4646A>G
|
rs1834308173
|
|
NM_001079802.2(FKTN):c.*4705G>A
|
rs1834312188
|
|
NM_001079802.2(FKTN):c.*4826A>G
|
rs1834318656
|
|
NM_001079802.2(FKTN):c.*4859A>G
|
rs1554768242
|
|
NM_001079802.2(FKTN):c.*4859A>T
|
rs1554768242
|
|
NM_001079802.2(FKTN):c.*5303dup
|
rs879263714
|
|
NM_001079802.2(FKTN):c.*5374_*5846del
|
|
|
NM_001079802.2(FKTN):c.*5817A>C
|
rs886063343
|
|
NM_001079802.2(FKTN):c.*806G>C
|
rs75971372
|
|
NM_001079802.2(FKTN):c.-181+1G>C
|
rs574535599
|
|
NM_001079802.2(FKTN):c.-181+1G>T
|
rs574535599
|
|
NM_001079802.2(FKTN):c.-1_2del (p.Met1del)
|
rs1180986256
|
|
NM_001079802.2(FKTN):c.-45G>T
|
rs77013649
|
|
NM_001079802.2(FKTN):c.-90del
|
rs727502845
|
|
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=)
|
rs146967918
|
|
NM_001079802.2(FKTN):c.1044+17G>C
|
rs200801909
|
|
NM_001079802.2(FKTN):c.106-2A>G
|
rs1554748292
|
|
NM_001079802.2(FKTN):c.1099del (p.Val367fs)
|
rs1554761310
|
|
NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter)
|
rs773884973
|
|
NM_001079802.2(FKTN):c.1106del (p.Phe369fs)
|
rs750176716
|
|
NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser)
|
rs1343750016
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
NM_001079802.2(FKTN):c.1172+1G>A
|
rs1554761462
|
|
NM_001079802.2(FKTN):c.1173-1G>A
|
rs557699482
|
|
NM_001079802.2(FKTN):c.1173-1G>C
|
rs557699482
|
|
NM_001079802.2(FKTN):c.1173-2A>G
|
rs1554766808
|
|
NM_001079802.2(FKTN):c.1201del (p.Trp401fs)
|
rs1554766841
|
|
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del)
|
rs1554766855
|
|
NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter)
|
rs765934383
|
|
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)
|
rs1588315166
|
|
NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs)
|
rs1554766898
|
|
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile)
|
rs374912618
|
|
NM_001079802.2(FKTN):c.165+5G>A
|
rs2132596368
|
|
NM_001079802.2(FKTN):c.175_180del (p.Lys59_Lys60del)
|
rs1554751112
|
|
NM_001079802.2(FKTN):c.187_188del (p.Met63fs)
|
rs587777813
|
|
NM_001079802.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle)
|
rs1554751136
|
|
NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn)
|
rs2132016533
|
|
NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro)
|
rs371697266
|
|
NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)
|
|
|
NM_001079802.2(FKTN):c.330dup (p.Thr111fs)
|
rs767865405
|
|
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)
|
rs119463995
|
|
NM_001079802.2(FKTN):c.370-2A>G
|
rs1554752805
|
|
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val)
|
rs142783718
|
|
NM_001079802.2(FKTN):c.378del (p.Trp126fs)
|
|
|
NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter)
|
|
|
NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del)
|
rs1176794033
|
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
|
NM_001079802.2(FKTN):c.428_429delinsT (p.Lys143fs)
|
|
|
NM_001079802.2(FKTN):c.429del (p.Asp144fs)
|
rs1057516258
|
|
NM_001079802.2(FKTN):c.436dup (p.Arg146fs)
|
|
|
NM_001079802.2(FKTN):c.442_443del (p.Asp148fs)
|
|
|
NM_001079802.2(FKTN):c.454dup (p.Ser152fs)
|
rs587777748
|
|
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)
|
rs760731888
|
|
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
|
|
|
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu)
|
rs119464997
|
|
NM_001079802.2(FKTN):c.528dup (p.His177fs)
|
rs1588112379
|
|
NM_001079802.2(FKTN):c.530A>G (p.His177Arg)
|
rs773322779
|
|
NM_001079802.2(FKTN):c.531T>A (p.His177Gln)
|
rs534638144
|
|
NM_001079802.2(FKTN):c.557A>G (p.His186Arg)
|
rs1448279636
|
|
NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer)
|
rs2132800044
|
|
NM_001079802.2(FKTN):c.569_570del (p.Arg190fs)
|
|
|
NM_001079802.2(FKTN):c.587_590del (p.Asp196fs)
|
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NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
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rs398123557
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NM_001079802.2(FKTN):c.648-1243G>T
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rs1554754182
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NM_001079802.2(FKTN):c.658_661del (p.Gln220fs)
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rs1057517160
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NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)
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rs1293245717
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NM_001079802.2(FKTN):c.69dup (p.Gln24fs)
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NM_001079802.2(FKTN):c.705A>G (p.Pro235=)
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rs1829190548
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NM_001079802.2(FKTN):c.711C>G (p.His237Gln)
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rs562170364
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NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)
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NM_001079802.2(FKTN):c.766C>A (p.Arg256=)
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rs377417974
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NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)
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rs377417974
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NM_001079802.2(FKTN):c.770del (p.Ala257fs)
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rs1057516966
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NM_001079802.2(FKTN):c.780+1G>A
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rs370819786
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NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg)
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rs1564318575
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NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter)
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rs369797361
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NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg)
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rs2133099564
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NM_001079802.2(FKTN):c.840dup (p.Leu281fs)
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NM_001079802.2(FKTN):c.910+7T>G
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rs1830641729
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NM_001079802.2(FKTN):c.911-13A>G
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rs766103012
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NM_001079802.2(FKTN):c.934A>G (p.Ile312Val)
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rs2133161218
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NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs)
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NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly)
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rs759791267
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NM_005963.4(MYH1):c.1295A>C (p.Lys432Thr)
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NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]
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NM_006731.2:c.911-24_911-23insN[1200]
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NM_024301.5(FKRP):c.679G>C (p.Ala227Pro)
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rs775681117
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