ClinVar Miner

List of variants in gene FKTN reported as uncertain significance for muscular dystrophy-dystroglycanopathy, type A

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 383
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_001079802.2(FKTN):c.*4491T>C rs41316524 0.00811
NM_001079802.2(FKTN):c.*5578G>A rs41277801 0.00776
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.-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.25G>T (p.Val9Phe) rs145387221 0.00032
NM_001079802.2(FKTN):c.*3516T>C rs1041010308 0.00026
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) rs149033995 0.00019
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.1212T>G (p.Phe404Leu) rs776724595 0.00007
NM_001079802.2(FKTN):c.*1845G>T rs886063328 0.00006
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.822G>T (p.Arg274=) rs997235832 0.00005
NM_001079802.2(FKTN):c.*1175C>T rs996474083 0.00004
NM_001079802.2(FKTN):c.-136A>G rs886063318 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.854C>T (p.Ala285Val) rs137951613 0.00004
NM_001079802.2(FKTN):c.877G>C (p.Val293Leu) rs146900302 0.00004
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.1249G>A (p.Glu417Lys) rs765934383 0.00003
NM_001079802.2(FKTN):c.124A>G (p.Lys42Glu) rs752663857 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.247A>G (p.Ile83Val) rs757798867 0.00003
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195 0.00003
NM_001079802.2(FKTN):c.821G>A (p.Arg274Gln) rs767503045 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.1046T>C (p.Val349Ala) rs539089647 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079802.2(FKTN):c.1312C>T (p.Arg438Cys) rs150852885 0.00002
NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser) rs1429464723 0.00002
NM_001079802.2(FKTN):c.1333C>G (p.Pro445Ala) rs781465422 0.00002
NM_001079802.2(FKTN):c.14A>G (p.Asn5Ser) rs751473818 0.00002
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr) rs772840681 0.00002
NM_001079802.2(FKTN):c.575A>G (p.Lys192Arg) rs763737649 0.00002
NM_001079802.2(FKTN):c.733T>A (p.Ser245Thr) rs776945221 0.00002
NM_001079802.2(FKTN):c.787C>G (p.Leu263Val) rs770440134 0.00002
NM_001079802.2(FKTN):c.*1276C>T rs886063325 0.00001
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.-114G>A rs1564210000 0.00001
NM_001079802.2(FKTN):c.1009G>T (p.Asp337Tyr) rs752721354 0.00001
NM_001079802.2(FKTN):c.1010A>T (p.Asp337Val) rs760756067 0.00001
NM_001079802.2(FKTN):c.1022C>T (p.Pro341Leu) rs764441249 0.00001
NM_001079802.2(FKTN):c.1048G>A (p.Glu350Lys) rs750759323 0.00001
NM_001079802.2(FKTN):c.105+6T>G rs754468850 0.00001
NM_001079802.2(FKTN):c.1056C>G (p.Ser352Arg) rs149085844 0.00001
NM_001079802.2(FKTN):c.109G>A (p.Gly37Arg) rs773884973 0.00001
NM_001079802.2(FKTN):c.1107C>G (p.Phe369Leu) rs905981141 0.00001
NM_001079802.2(FKTN):c.1135A>G (p.Asn379Asp) rs1048088668 0.00001
NM_001079802.2(FKTN):c.1150G>A (p.Ala384Thr) rs1343750016 0.00001
NM_001079802.2(FKTN):c.1170C>A (p.Phe390Leu) rs1831570423 0.00001
NM_001079802.2(FKTN):c.1174T>C (p.Tyr392His) rs752191412 0.00001
NM_001079802.2(FKTN):c.1178T>C (p.Leu393Pro) rs374962879 0.00001
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser) rs727502849 0.00001
NM_001079802.2(FKTN):c.1184C>T (p.Pro395Leu) rs1201619662 0.00001
NM_001079802.2(FKTN):c.1186A>C (p.Lys396Gln) rs1477740717 0.00001
NM_001079802.2(FKTN):c.1188G>A (p.Lys396=) rs886063320 0.00001
NM_001079802.2(FKTN):c.1268A>G (p.Tyr423Cys) rs938689811 0.00001
NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg) rs1833937117 0.00001
NM_001079802.2(FKTN):c.1298C>T (p.Thr433Met) rs201590151 0.00001
NM_001079802.2(FKTN):c.12C>G (p.Ile4Met) rs1389073650 0.00001
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs) rs775366895 0.00001
NM_001079802.2(FKTN):c.138C>A (p.Ser46Arg) rs1826853440 0.00001
NM_001079802.2(FKTN):c.13A>G (p.Asn5Asp) rs765929865 0.00001
NM_001079802.2(FKTN):c.143T>C (p.Ile48Thr) rs886044478 0.00001
NM_001079802.2(FKTN):c.154A>G (p.Ser52Gly) rs1064796459 0.00001
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319 0.00001
NM_001079802.2(FKTN):c.292A>G (p.Thr98Ala) rs758798692 0.00001
NM_001079802.2(FKTN):c.296C>T (p.Ser99Leu) rs768260007 0.00001
NM_001079802.2(FKTN):c.305A>G (p.Lys102Arg) rs757253023 0.00001
NM_001079802.2(FKTN):c.34C>G (p.Leu12Val) rs939985733 0.00001
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys) rs150591365 0.00001
NM_001079802.2(FKTN):c.382C>T (p.Arg128Trp) rs767026996 0.00001
NM_001079802.2(FKTN):c.389C>T (p.Ala130Val) rs752196884 0.00001
NM_001079802.2(FKTN):c.436C>T (p.Arg146Trp) rs1208639233 0.00001
NM_001079802.2(FKTN):c.443A>G (p.Asp148Gly) rs773305645 0.00001
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690 0.00001
NM_001079802.2(FKTN):c.508G>A (p.Ala170Thr) rs778818366 0.00001
NM_001079802.2(FKTN):c.516C>G (p.His172Gln) rs1436386821 0.00001
NM_001079802.2(FKTN):c.526T>G (p.Phe176Val) rs746813994 0.00001
NM_001079802.2(FKTN):c.545A>G (p.Asn182Ser) rs760170065 0.00001
NM_001079802.2(FKTN):c.556C>T (p.His186Tyr) rs767961629 0.00001
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499 0.00001
NM_001079802.2(FKTN):c.584T>C (p.Ile195Thr) rs753503050 0.00001
NM_001079802.2(FKTN):c.643G>C (p.Asp215His) rs745975808 0.00001
NM_001079802.2(FKTN):c.647+4A>G rs1828505595 0.00001
NM_001079802.2(FKTN):c.685G>A (p.Val229Ile) rs772111890 0.00001
NM_001079802.2(FKTN):c.6T>G (p.Ser2Arg) rs1350049256 0.00001
NM_001079802.2(FKTN):c.706A>G (p.Met236Val) rs886042241 0.00001
NM_001079802.2(FKTN):c.707T>G (p.Met236Arg) rs769033293 0.00001
NM_001079802.2(FKTN):c.755A>T (p.Tyr252Phe) rs574626895 0.00001
NM_001079802.2(FKTN):c.793G>C (p.Asp265His) rs1372525892 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.895A>C (p.Ser299Arg) rs367662190 0.00001
NM_001079802.2(FKTN):c.910+4A>C rs1830640350 0.00001
NM_001079802.2(FKTN):c.92A>G (p.Tyr31Cys) rs533603648 0.00001
NM_001079802.2(FKTN):c.972A>G (p.Ile324Met) rs769691253 0.00001
NM_001079802.2(FKTN):c.989A>G (p.Asp330Gly) rs1414568181 0.00001
NC_000009.11:g.(?_108337304)_(108358948_?)dup
NC_000009.11:g.(?_108397312)_(108397545_?)del
NC_000009.12:g.(?_105575023)_(105635274_?)dup
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.*5817A>C rs886063343
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.-90del rs727502845
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1033A>G (p.Lys345Glu) rs2133163596
NM_001079802.2(FKTN):c.1045G>A (p.Val349Ile) rs1831549660
NM_001079802.2(FKTN):c.1045G>C (p.Val349Leu) rs1831549660
NM_001079802.2(FKTN):c.1048_1065del (p.Glu350_Leu355del) rs2133209581
NM_001079802.2(FKTN):c.1055G>A (p.Ser352Asn)
NM_001079802.2(FKTN):c.105G>A (p.Lys35=) rs751029878
NM_001079802.2(FKTN):c.1082A>C (p.Asp361Ala)
NM_001079802.2(FKTN):c.1086T>A (p.Asp362Glu) rs1588221689
NM_001079802.2(FKTN):c.1088T>G (p.Val363Gly) rs1362238936
NM_001079802.2(FKTN):c.10A>C (p.Ile4Leu) rs757900916
NM_001079802.2(FKTN):c.1104T>A (p.Phe368Leu) rs1831558425
NM_001079802.2(FKTN):c.1119A>C (p.Glu373Asp) rs371776972
NM_001079802.2(FKTN):c.1119A>T (p.Glu373Asp) rs371776972
NM_001079802.2(FKTN):c.1129A>G (p.Met377Val) rs1200757732
NM_001079802.2(FKTN):c.1149G>C (p.Gln383His)
NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser) rs1343750016
NM_001079802.2(FKTN):c.1157C>T (p.Thr386Ile) rs1831566546
NM_001079802.2(FKTN):c.1162A>C (p.Lys388Gln) rs1831568665
NM_001079802.2(FKTN):c.1172+15A>G
NM_001079802.2(FKTN):c.1172+4T>C rs2133212082
NM_001079802.2(FKTN):c.1173-1G>C rs557699482
NM_001079802.2(FKTN):c.1173A>G (p.Lys391=) rs2133450404
NM_001079802.2(FKTN):c.1177C>A (p.Leu393Met) rs1249398294
NM_001079802.2(FKTN):c.1182T>G (p.Phe394Leu)
NM_001079802.2(FKTN):c.1196T>C (p.Leu399Pro) rs1833923288
NM_001079802.2(FKTN):c.1198_1207del (p.Cys400fs) rs2133450854
NM_001079802.2(FKTN):c.11T>C (p.Ile4Thr)
NM_001079802.2(FKTN):c.1200C>G (p.Cys400Trp) rs2133450925
NM_001079802.2(FKTN):c.1201T>C (p.Trp401Arg)
NM_001079802.2(FKTN):c.1201del (p.Trp401fs) rs1554766841
NM_001079802.2(FKTN):c.1205C>T (p.Thr402Ile) rs371464705
NM_001079802.2(FKTN):c.1210T>G (p.Phe404Val) rs1833925629
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001079802.2(FKTN):c.1224G>C (p.Lys408Asn) rs200091271
NM_001079802.2(FKTN):c.1225_1236delinsTT (p.Val409fs) rs1833929015
NM_001079802.2(FKTN):c.1226T>C (p.Val409Ala)
NM_001079802.2(FKTN):c.1237T>C (p.Cys413Arg) rs138836248
NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter) rs765934383
NM_001079802.2(FKTN):c.1250A>T (p.Glu417Val) rs543684877
NM_001079802.2(FKTN):c.1255A>G (p.Ile419Val) rs2133451721
NM_001079802.2(FKTN):c.1256T>C (p.Ile419Thr)
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.1265A>G (p.Asn422Ser) rs1833935107
NM_001079802.2(FKTN):c.1267_1270dup (p.Gly424fs)
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_001079802.2(FKTN):c.1284G>T (p.Lys428Asn) rs938548521
NM_001079802.2(FKTN):c.1287del (p.Pro430fs) rs2133452242
NM_001079802.2(FKTN):c.1305C>G (p.Asp435Glu) rs1043227892
NM_001079802.2(FKTN):c.1313G>A (p.Arg438His)
NM_001079802.2(FKTN):c.1315T>C (p.Ser439Pro) rs758196050
NM_001079802.2(FKTN):c.1317_1318dup (p.Pro440fs) rs886042778
NM_001079802.2(FKTN):c.1319C>T (p.Pro440Leu) rs1564357396
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001079802.2(FKTN):c.1349C>T (p.Pro450Leu)
NM_001079802.2(FKTN):c.1369G>A (p.Val457Ile) rs775183646
NM_001079802.2(FKTN):c.1371_1381dup (p.Tyr461fs) rs727502847
NM_001079802.2(FKTN):c.1372_1373dup (p.Gln459fs)
NM_001079802.2(FKTN):c.1379T>C (p.Leu460Ser) rs1833947279
NM_001079802.2(FKTN):c.1381T>A (p.Tyr461Asn) rs760285197
NM_001079802.2(FKTN):c.13A>C (p.Asn5His) rs765929865
NM_001079802.2(FKTN):c.142A>G (p.Ile48Val)
NM_001079802.2(FKTN):c.145G>A (p.Gly49Arg) rs2132595541
NM_001079802.2(FKTN):c.164G>T (p.Trp55Leu) rs1826858068
NM_001079802.2(FKTN):c.165+3A>G
NM_001079802.2(FKTN):c.166-3C>A
NM_001079802.2(FKTN):c.169G>T (p.Ala57Ser)
NM_001079802.2(FKTN):c.170C>G (p.Ala57Gly)
NM_001079802.2(FKTN):c.170C>T (p.Ala57Val) rs1554751104
NM_001079802.2(FKTN):c.175_180del (p.Lys59_Lys60del) rs1554751112
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.193A>G (p.Thr65Ala) rs762827229
NM_001079802.2(FKTN):c.194C>A (p.Thr65Lys) rs1238441242
NM_001079802.2(FKTN):c.194C>T (p.Thr65Ile)
NM_001079802.2(FKTN):c.196T>C (p.Ser66Pro) rs1827810710
NM_001079802.2(FKTN):c.208G>A (p.Val70Ile) rs1827814378
NM_001079802.2(FKTN):c.215T>A (p.Val72Glu) rs1827815560
NM_001079802.2(FKTN):c.21C>G (p.Asn7Lys) rs564632018
NM_001079802.2(FKTN):c.220C>A (p.Leu74Ile) rs1060501407
NM_001079802.2(FKTN):c.223A>G (p.Ile75Val) rs1827816995
NM_001079802.2(FKTN):c.224T>C (p.Ile75Thr) rs756178260
NM_001079802.2(FKTN):c.22G>A (p.Val8Met) rs368981218
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu) rs368981218
NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro) rs371697266
NM_001079802.2(FKTN):c.251A>G (p.Asn84Ser)
NM_001079802.2(FKTN):c.257A>T (p.Asn86Ile) rs1295912375
NM_001079802.2(FKTN):c.25G>C (p.Val9Leu) rs145387221
NM_001079802.2(FKTN):c.262G>C (p.Glu88Gln)
NM_001079802.2(FKTN):c.278C>T (p.Thr93Ile)
NM_001079802.2(FKTN):c.281C>T (p.Ser94Phe)
NM_001079802.2(FKTN):c.283C>T (p.His95Tyr)
NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser) rs376452959
NM_001079802.2(FKTN):c.293C>T (p.Thr98Ile) rs376452959
NM_001079802.2(FKTN):c.299A>C (p.Gln100Pro) rs1827828109
NM_001079802.2(FKTN):c.29T>C (p.Leu10Ser) rs1587865923
NM_001079802.2(FKTN):c.301T>C (p.Cys101Arg) rs886044095
NM_001079802.2(FKTN):c.312C>A (p.Phe104Leu) rs2132707762
NM_001079802.2(FKTN):c.316G>T (p.Val106Phe)
NM_001079802.2(FKTN):c.319C>G (p.Pro107Ala) rs2132707901
NM_001079802.2(FKTN):c.322A>G (p.Arg108Gly) rs2132707988
NM_001079802.2(FKTN):c.328T>C (p.Phe110Leu) rs2132708103
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.350A>G (p.Tyr117Cys)
NM_001079802.2(FKTN):c.369+4A>G rs1588088864
NM_001079802.2(FKTN):c.369+5G>C rs2132709437
NM_001079802.2(FKTN):c.369+6T>G rs1554751423
NM_001079802.2(FKTN):c.374G>A (p.Gly125Asp) rs142783718
NM_001079802.2(FKTN):c.374G>C (p.Gly125Ala) rs142783718
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_001079802.2(FKTN):c.388G>A (p.Ala130Thr)
NM_001079802.2(FKTN):c.394A>G (p.Asn132Asp) rs2132791236
NM_001079802.2(FKTN):c.400G>A (p.Gly134Arg) rs1554752862
NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del) rs1176794033
NM_001079802.2(FKTN):c.401G>T (p.Gly134Val) rs2132791726
NM_001079802.2(FKTN):c.408G>C (p.Gln136His)
NM_001079802.2(FKTN):c.409T>A (p.Cys137Ser)
NM_001079802.2(FKTN):c.41C>G (p.Thr14Arg) rs149033995
NM_001079802.2(FKTN):c.425G>A (p.Ser142Asn) rs745597550
NM_001079802.2(FKTN):c.426T>G (p.Ser142Arg)
NM_001079802.2(FKTN):c.447G>T (p.Gly149=)
NM_001079802.2(FKTN):c.448A>G (p.Ile150Val) rs886044482
NM_001079802.2(FKTN):c.457C>G (p.Leu153Val) rs977350409
NM_001079802.2(FKTN):c.467C>A (p.Thr156Asn) rs1828456809
NM_001079802.2(FKTN):c.475C>G (p.Pro159Ala) rs755830677
NM_001079802.2(FKTN):c.479T>C (p.Leu160Pro)
NM_001079802.2(FKTN):c.481C>A (p.His161Asn) rs753338116
NM_001079802.2(FKTN):c.482A>G (p.His161Arg) rs727502848
NM_001079802.2(FKTN):c.488T>A (p.Ile163Asn) rs1828461999
NM_001079802.2(FKTN):c.489C>G (p.Ile163Met) rs980208971
NM_001079802.2(FKTN):c.499G>A (p.Ala167Thr) rs2132796265
NM_001079802.2(FKTN):c.49A>G (p.Ser17Gly)
NM_001079802.2(FKTN):c.505C>G (p.His169Asp) rs1243169303
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
NM_001079802.2(FKTN):c.509C>T (p.Ala170Val)
NM_001079802.2(FKTN):c.511A>T (p.Ile171Phe) rs1432918466
NM_001079802.2(FKTN):c.515A>T (p.His172Leu) rs758166890
NM_001079802.2(FKTN):c.520G>A (p.Val174Ile) rs749663903
NM_001079802.2(FKTN):c.530A>G (p.His177Arg) rs773322779
NM_001079802.2(FKTN):c.530A>T (p.His177Leu)
NM_001079802.2(FKTN):c.531T>A (p.His177Gln) rs534638144
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr) rs119463994
NM_001079802.2(FKTN):c.538A>T (p.Ser180Cys) rs2132798439
NM_001079802.2(FKTN):c.539G>T (p.Ser180Ile)
NM_001079802.2(FKTN):c.545A>C (p.Asn182Thr) rs760170065
NM_001079802.2(FKTN):c.547T>A (p.Tyr183Asn) rs1163774436
NM_001079802.2(FKTN):c.557A>G (p.His186Arg) rs1448279636
NM_001079802.2(FKTN):c.563A>G (p.His188Arg) rs1828484638
NM_001079802.2(FKTN):c.564C>G (p.His188Gln) rs1828485095
NM_001079802.2(FKTN):c.567G>C (p.Leu189Phe) rs988842962
NM_001079802.2(FKTN):c.569G>A (p.Arg190Lys) rs760967116
NM_001079802.2(FKTN):c.586G>T (p.Asp196Tyr) rs756748012
NM_001079802.2(FKTN):c.58T>G (p.Phe20Val) rs1554731003
NM_001079802.2(FKTN):c.617A>C (p.Gln206Pro)
NM_001079802.2(FKTN):c.619T>G (p.Phe207Val) rs1461669175
NM_001079802.2(FKTN):c.623G>A (p.Gly208Asp) rs778048703
NM_001079802.2(FKTN):c.623G>T (p.Gly208Val)
NM_001079802.2(FKTN):c.625C>T (p.Arg209Cys) rs749576551
NM_001079802.2(FKTN):c.626G>A (p.Arg209His) rs771109111
NM_001079802.2(FKTN):c.638C>T (p.Ala213Val) rs774612427
NM_001079802.2(FKTN):c.647+3A>G rs1828504981
NM_001079802.2(FKTN):c.647G>A (p.Arg216Lys) rs1828504500
NM_001079802.2(FKTN):c.647G>T (p.Arg216Met)
NM_001079802.2(FKTN):c.648-3C>T rs1430063746
NM_001079802.2(FKTN):c.653A>T (p.Glu218Val) rs978338266
NM_001079802.2(FKTN):c.659A>G (p.Gln220Arg)
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile) rs1293245717
NM_001079802.2(FKTN):c.667A>G (p.Thr223Ala)
NM_001079802.2(FKTN):c.675T>A (p.Asp225Glu)
NM_001079802.2(FKTN):c.677G>C (p.Gly226Ala) rs2132899059
NM_001079802.2(FKTN):c.67T>C (p.Phe23Leu) rs2132017664
NM_001079802.2(FKTN):c.69T>G (p.Phe23Leu)
NM_001079802.2(FKTN):c.705A>G (p.Pro235=) rs1829190548
NM_001079802.2(FKTN):c.711C>G (p.His237Gln) rs562170364
NM_001079802.2(FKTN):c.719AAG[1] (p.Glu241del) rs1437925297
NM_001079802.2(FKTN):c.727C>G (p.Pro243Ala) rs1564301303
NM_001079802.2(FKTN):c.730C>T (p.His244Tyr) rs1194640294
NM_001079802.2(FKTN):c.743T>C (p.Ile248Thr) rs2132900809
NM_001079802.2(FKTN):c.751A>G (p.Arg251Gly)
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079802.2(FKTN):c.767G>A (p.Arg256Gln)
NM_001079802.2(FKTN):c.774C>G (p.Phe258Leu) rs1829205310
NM_001079802.2(FKTN):c.780G>A (p.Gln260=) rs1459814015
NM_001079802.2(FKTN):c.781-3T>A rs2133098515
NM_001079802.2(FKTN):c.784T>C (p.Tyr262His)
NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg) rs1564318575
NM_001079802.2(FKTN):c.794A>G (p.Asp265Gly) rs2133098941
NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg) rs2133099564
NM_001079802.2(FKTN):c.835G>A (p.Glu279Lys)
NM_001079802.2(FKTN):c.836A>G (p.Glu279Gly)
NM_001079802.2(FKTN):c.83A>G (p.Tyr28Cys) rs374203636
NM_001079802.2(FKTN):c.841C>G (p.Leu281Val) rs199697041
NM_001079802.2(FKTN):c.877G>T (p.Val293Leu) rs146900302
NM_001079802.2(FKTN):c.884T>A (p.Phe295Tyr) rs1830635344
NM_001079802.2(FKTN):c.885C>G (p.Phe295Leu) rs1564319328
NM_001079802.2(FKTN):c.898G>A (p.Gly300Arg)
NM_001079802.2(FKTN):c.905G>A (p.Cys302Tyr) rs1554757939
NM_001079802.2(FKTN):c.910+7T>G rs1830641729
NM_001079802.2(FKTN):c.911-13A>G rs766103012
NM_001079802.2(FKTN):c.917A>G (p.Tyr306Cys)
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
NM_001079802.2(FKTN):c.934A>G (p.Ile312Val) rs2133161218
NM_001079802.2(FKTN):c.938C>T (p.Pro313Leu) rs1588204815
NM_001079802.2(FKTN):c.941A>G (p.Tyr314Cys) rs1451453111
NM_001079802.2(FKTN):c.952G>A (p.Val318Ile) rs141120187
NM_001079802.2(FKTN):c.961G>A (p.Gly321Arg) rs1831143790
NM_001079802.2(FKTN):c.964A>T (p.Ile322Phe)
NM_001079802.2(FKTN):c.975A>C (p.Gln325His) rs774410536
NM_001079802.2(FKTN):c.976G>A (p.Asp326Asn)
NM_001079802.2(FKTN):c.976G>T (p.Asp326Tyr)
NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly) rs759791267
NM_001079802.2(FKTN):c.998T>C (p.Leu333Ser)

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