ClinVar Miner

List of variants in gene FKTN studied for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 869
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.42G>A (p.Thr14=) rs78794935 0.01002
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
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.648-1278A>C rs181901044 0.00425
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.668C>T (p.Thr223Ile) rs116105846 0.00224
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.285T>C (p.His95=) rs148046151 0.00050
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.102A>C (p.Thr34=) rs138740640 0.00025
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.333T>C (p.Thr111=) rs141729611 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.647+12G>A rs372589966 0.00011
NM_001079802.2(FKTN):c.*3377A>G rs148172557 0.00010
NM_001079802.2(FKTN):c.1172+13T>C rs768792475 0.00009
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.106-13G>C rs370216581 0.00007
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.781-9T>C rs370564232 0.00006
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516 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.1173-8T>C rs767093535 0.00004
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) rs146272618 0.00004
NM_001079802.2(FKTN):c.1248C>T (p.Leu416=) rs774804160 0.00004
NM_001079802.2(FKTN):c.1383T>C (p.Tyr461=) rs140899569 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.444C>T (p.Asp148=) rs759808323 0.00004
NM_001079802.2(FKTN):c.647+19C>T rs371472520 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.393G>A (p.Glu131=) rs1472560195 0.00003
NM_001079802.2(FKTN):c.402A>T (p.Gly134=) rs780921233 0.00003
NM_001079802.2(FKTN):c.510G>A (p.Ala170=) rs187804924 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.911-8C>A rs749557617 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.1230T>C (p.His410=) rs189927779 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.30G>A (p.Leu10=) rs202047149 0.00002
NM_001079802.2(FKTN):c.342A>G (p.Ala114=) rs368598407 0.00002
NM_001079802.2(FKTN):c.575A>G (p.Lys192Arg) rs763737649 0.00002
NM_001079802.2(FKTN):c.63G>C (p.Leu21=) rs766642997 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.911-17T>A rs201625324 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 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.*777C>A rs369316426 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.111A>G (p.Gly37=) rs199594298 0.00001
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402 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.1172+11A>T rs891588561 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.117T>C (p.Gly39=) rs766999475 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.1194A>G (p.Thr398=) rs1833922498 0.00001
NM_001079802.2(FKTN):c.1195C>T (p.Leu399=) rs768867435 0.00001
NM_001079802.2(FKTN):c.1218C>T (p.Asp406=) rs760470596 0.00001
NM_001079802.2(FKTN):c.1224G>A (p.Lys408=) rs200091271 0.00001
NM_001079802.2(FKTN):c.1260A>G (p.Glu420=) rs1290782710 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.1299G>A (p.Thr433=) rs912930168 0.00001
NM_001079802.2(FKTN):c.129C>T (p.Ser43=) rs760571628 0.00001
NM_001079802.2(FKTN):c.12C>G (p.Ile4Met) rs1389073650 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.138C>A (p.Ser46Arg) rs1826853440 0.00001
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990 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.166-12T>A rs1419099088 0.00001
NM_001079802.2(FKTN):c.180A>G (p.Lys60=) rs886042513 0.00001
NM_001079802.2(FKTN):c.198C>G (p.Ser66=) rs367868644 0.00001
NM_001079802.2(FKTN):c.21C>T (p.Asn7=) rs564632018 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.330T>C (p.Phe110=) rs769567661 0.00001
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter) rs119463991 0.00001
NM_001079802.2(FKTN):c.34C>G (p.Leu12Val) rs939985733 0.00001
NM_001079802.2(FKTN):c.357A>G (p.Leu119=) rs760933616 0.00001
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys) rs150591365 0.00001
NM_001079802.2(FKTN):c.369+1G>C rs764125009 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.42del (p.Thr14_Leu15insTer) rs1309132512 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.558C>T (p.His186=) rs761342779 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.588C>T (p.Asp196=) rs1222153269 0.00001
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506 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.648-8G>A rs754786678 0.00001
NM_001079802.2(FKTN):c.648-9T>C rs751515600 0.00001
NM_001079802.2(FKTN):c.66G>A (p.Leu22=) rs762170532 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.75G>A (p.Leu25=) rs188900946 0.00001
NM_001079802.2(FKTN):c.78C>T (p.Tyr26=) rs369797361 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.841C>T (p.Leu281=) rs199697041 0.00001
NM_001079802.2(FKTN):c.855G>A (p.Ala285=) rs1057521448 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.910+9C>G rs1261411883 0.00001
NM_001079802.2(FKTN):c.911-12T>A rs1831127930 0.00001
NM_001079802.2(FKTN):c.911-1G>A rs958678700 0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992 0.00001
NM_001079802.2(FKTN):c.92A>G (p.Tyr31Cys) rs533603648 0.00001
NM_001079802.2(FKTN):c.939T>G (p.Pro313=) rs1352489957 0.00001
NM_001079802.2(FKTN):c.942T>C (p.Tyr314=) rs970907026 0.00001
NM_001079802.2(FKTN):c.972A>G (p.Ile324Met) rs769691253 0.00001
NM_001079802.2(FKTN):c.978T>C (p.Asp326=) rs1018122957 0.00001
NM_001079802.2(FKTN):c.989A>G (p.Asp330Gly) rs1414568181 0.00001
NC_000009.11:g.(?_108320401)_(108337428_?)del
NC_000009.11:g.(?_108335926)_(108403409_?)del
NC_000009.11:g.(?_108337304)_(108358948_?)dup
NC_000009.11:g.(?_108337304)_(108397555_?)del
NC_000009.11:g.(?_108337314)_(108397545_?)del
NC_000009.11:g.(?_108358859)_(108366793_?)del
NC_000009.11:g.(?_108358859)_(108368857_?)dup
NC_000009.11:g.(?_108358859)_(108382362_?)dup
NC_000009.11:g.(?_108366486)_(108368857_?)del
NC_000009.11:g.(?_108368857)_(108370242_?)del
NC_000009.11:g.(?_108377539)_(108377708_?)dup
NC_000009.11:g.(?_108377549)_(108382383_?)del
NC_000009.11:g.(?_108397312)_(108397545_?)del
NC_000009.12:g.(?_105575023)_(105575147_?)del
NC_000009.12:g.(?_105575023)_(105635274_?)dup
NC_000009.12:g.(?_105606576)_(105641128_?)del
NC_000009.12:g.105604215del
NM_001079802.1(FKTN):c.657dup (p.Gln220Thrfs) rs1554754678
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.*4388del rs148253503
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.1002A>G (p.Ala334=) rs2133162787
NM_001079802.2(FKTN):c.1005T>C (p.Phe335=)
NM_001079802.2(FKTN):c.1011T>C (p.Asp337=)
NM_001079802.2(FKTN):c.1022del (p.Pro341fs) rs2133163213
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1023G>T (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1026C>T (p.Leu342=) rs17309806
NM_001079802.2(FKTN):c.1029del (p.Lys343fs)
NM_001079802.2(FKTN):c.1033A>G (p.Lys345Glu) rs2133163596
NM_001079802.2(FKTN):c.1044+15T>A rs1475492936
NM_001079802.2(FKTN):c.1044+16C>T rs1222775225
NM_001079802.2(FKTN):c.1044+17G>A rs200801909
NM_001079802.2(FKTN):c.1044+17G>C rs200801909
NM_001079802.2(FKTN):c.1044+19C>A rs2133164189
NM_001079802.2(FKTN):c.1044+9C>T rs2133163762
NM_001079802.2(FKTN):c.1044G>A (p.Lys348=)
NM_001079802.2(FKTN):c.1045-13A>G
NM_001079802.2(FKTN):c.1045-20G>A
NM_001079802.2(FKTN):c.1045-20G>C rs2133209107
NM_001079802.2(FKTN):c.1045-3dup
NM_001079802.2(FKTN):c.1045-5C>T
NM_001079802.2(FKTN):c.1045-6C>G
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.105+15T>C
NM_001079802.2(FKTN):c.105+17T>G
NM_001079802.2(FKTN):c.105+7T>A
NM_001079802.2(FKTN):c.105+9A>G rs1332542267
NM_001079802.2(FKTN):c.105+9_105+10dup rs759773682
NM_001079802.2(FKTN):c.1053C>T (p.Asp351=)
NM_001079802.2(FKTN):c.1055G>A (p.Ser352Asn)
NM_001079802.2(FKTN):c.105G>A (p.Lys35=) rs751029878
NM_001079802.2(FKTN):c.106-10G>C
NM_001079802.2(FKTN):c.106-10G>T rs148384394
NM_001079802.2(FKTN):c.106-12T>C
NM_001079802.2(FKTN):c.106-13G>A
NM_001079802.2(FKTN):c.106-14T>G
NM_001079802.2(FKTN):c.106-15T>G
NM_001079802.2(FKTN):c.106-17T>C
NM_001079802.2(FKTN):c.106-18C>A
NM_001079802.2(FKTN):c.106-18C>T rs748663594
NM_001079802.2(FKTN):c.106-1G>C rs2132594628
NM_001079802.2(FKTN):c.106-20T>C
NM_001079802.2(FKTN):c.106-20T>G
NM_001079802.2(FKTN):c.106-2A>C
NM_001079802.2(FKTN):c.106-2A>G rs1554748292
NM_001079802.2(FKTN):c.106-5C>A rs1338220455
NM_001079802.2(FKTN):c.106-5C>T
NM_001079802.2(FKTN):c.1065A>C (p.Leu355=) rs751317602
NM_001079802.2(FKTN):c.1065A>G (p.Leu355=)
NM_001079802.2(FKTN):c.1072C>T (p.Gln358Ter)
NM_001079802.2(FKTN):c.107dup (p.Asn36fs)
NM_001079802.2(FKTN):c.1080A>G (p.Lys360=) rs2133210088
NM_001079802.2(FKTN):c.1082A>C (p.Asp361Ala)
NM_001079802.2(FKTN):c.1086T>A (p.Asp362Glu) rs1588221689
NM_001079802.2(FKTN):c.1086T>C (p.Asp362=) rs1588221689
NM_001079802.2(FKTN):c.1088T>G (p.Val363Gly) rs1362238936
NM_001079802.2(FKTN):c.1098T>C (p.Asp366=)
NM_001079802.2(FKTN):c.1099del (p.Val367fs) rs1554761310
NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter) rs773884973
NM_001079802.2(FKTN):c.10A>C (p.Ile4Leu) rs757900916
NM_001079802.2(FKTN):c.1101T>C (p.Val367=)
NM_001079802.2(FKTN):c.1101T>G (p.Val367=)
NM_001079802.2(FKTN):c.1104T>A (p.Phe368Leu) rs1831558425
NM_001079802.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_001079802.2(FKTN):c.1110C>T (p.Phe370=)
NM_001079802.2(FKTN):c.1113T>C (p.Tyr371=) rs2133210756
NM_001079802.2(FKTN):c.1116A>G (p.Glu372=) rs2133210810
NM_001079802.2(FKTN):c.1117G>T (p.Glu373Ter)
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.1132_1138del (p.Trp378fs)
NM_001079802.2(FKTN):c.1134G>A (p.Trp378Ter)
NM_001079802.2(FKTN):c.1143C>A (p.Gly381=)
NM_001079802.2(FKTN):c.1146T>C (p.Thr382=) rs2133211422
NM_001079802.2(FKTN):c.1149G>A (p.Gln383=) rs1831565349
NM_001079802.2(FKTN):c.1149G>C (p.Gln383His)
NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser) rs1343750016
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter) rs1588222602
NM_001079802.2(FKTN):c.1157C>T (p.Thr386Ile) rs1831566546
NM_001079802.2(FKTN):c.1158A>G (p.Thr386=) rs886044528
NM_001079802.2(FKTN):c.1162A>C (p.Lys388Gln) rs1831568665
NM_001079802.2(FKTN):c.1167A>G (p.Lys389=)
NM_001079802.2(FKTN):c.1167_1168dup (p.Phe390fs) rs1588222870
NM_001079802.2(FKTN):c.1167del (p.Lys389fs) rs398123555
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1172+13dup
NM_001079802.2(FKTN):c.1172+15A>G
NM_001079802.2(FKTN):c.1172+19C>T
NM_001079802.2(FKTN):c.1172+1G>A rs1554761462
NM_001079802.2(FKTN):c.1172+4T>C rs2133212082
NM_001079802.2(FKTN):c.1173-14_1173-13del rs2133450190
NM_001079802.2(FKTN):c.1173-16C>G
NM_001079802.2(FKTN):c.1173-18C>T
NM_001079802.2(FKTN):c.1173-19T>C
NM_001079802.2(FKTN):c.1173-1G>A rs557699482
NM_001079802.2(FKTN):c.1173-1G>C rs557699482
NM_001079802.2(FKTN):c.1173-1G>T
NM_001079802.2(FKTN):c.1173-2A>G rs1554766808
NM_001079802.2(FKTN):c.1173-4G>A
NM_001079802.2(FKTN):c.1173-9T>A rs2133450310
NM_001079802.2(FKTN):c.1173A>G (p.Lys391=) rs2133450404
NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter) rs1203741361
NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter) rs1203741361
NM_001079802.2(FKTN):c.1176C>T (p.Tyr392=)
NM_001079802.2(FKTN):c.1177C>A (p.Leu393Met) rs1249398294
NM_001079802.2(FKTN):c.1179G>A (p.Leu393=)
NM_001079802.2(FKTN):c.1179G>C (p.Leu393=) rs369117043
NM_001079802.2(FKTN):c.1179G>T (p.Leu393=)
NM_001079802.2(FKTN):c.1182T>G (p.Phe394Leu)
NM_001079802.2(FKTN):c.1185G>A (p.Pro395=) rs141886790
NM_001079802.2(FKTN):c.1185G>T (p.Pro395=) rs141886790
NM_001079802.2(FKTN):c.1191T>C (p.Phe397=) rs2133450806
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.1209G>A (p.Glu403=) rs2133451076
NM_001079802.2(FKTN):c.120G>A (p.Leu40=)
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.1236C>A (p.Pro412=) rs1554766880
NM_001079802.2(FKTN):c.1237T>C (p.Cys413Arg) rs138836248
NM_001079802.2(FKTN):c.1248C>G (p.Leu416=) rs774804160
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>A (p.Ile419Asn)
NM_001079802.2(FKTN):c.1256T>C (p.Ile419Thr)
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001079802.2(FKTN):c.1263C>T (p.Ala421=)
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.1266C>T (p.Asn422=)
NM_001079802.2(FKTN):c.1267_1270dup (p.Gly424fs)
NM_001079802.2(FKTN):c.1269T>C (p.Tyr423=) rs1554766906
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_001079802.2(FKTN):c.1271G>T (p.Gly424Val)
NM_001079802.2(FKTN):c.1272dup (p.Lys425Ter)
NM_001079802.2(FKTN):c.1275G>A (p.Lys425=)
NM_001079802.2(FKTN):c.1278C>T (p.Thr426=) rs2133452125
NM_001079802.2(FKTN):c.1284G>T (p.Lys428Asn) rs938548521
NM_001079802.2(FKTN):c.1287T>A (p.Ile429=) rs2133452264
NM_001079802.2(FKTN):c.1287del (p.Pro430fs) rs2133452242
NM_001079802.2(FKTN):c.1290T>G (p.Pro430=) rs2133452334
NM_001079802.2(FKTN):c.1299G>T (p.Thr433=)
NM_001079802.2(FKTN):c.12C>T (p.Ile4=) rs1389073650
NM_001079802.2(FKTN):c.1305C>G (p.Asp435Glu) rs1043227892
NM_001079802.2(FKTN):c.1310A>C (p.Lys437Thr)
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.1338T>C (p.Asn446=) rs2133452991
NM_001079802.2(FKTN):c.1349C>T (p.Pro450Leu)
NM_001079802.2(FKTN):c.1350T>C (p.Pro450=) rs2133453085
NM_001079802.2(FKTN):c.1359G>A (p.Glu453=) rs2133453218
NM_001079802.2(FKTN):c.1363del (p.Asp455fs) rs587777814
NM_001079802.2(FKTN):c.1368G>A (p.Glu456=)
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.153T>C (p.Asp51=)
NM_001079802.2(FKTN):c.159A>G (p.Thr53=)
NM_001079802.2(FKTN):c.15T>C (p.Asn5=) rs1841416731
NM_001079802.2(FKTN):c.162G>A (p.Gln54=)
NM_001079802.2(FKTN):c.164G>A (p.Trp55Ter)
NM_001079802.2(FKTN):c.164G>T (p.Trp55Leu) rs1826858068
NM_001079802.2(FKTN):c.165+10A>G rs2132596452
NM_001079802.2(FKTN):c.165+13A>G
NM_001079802.2(FKTN):c.165+15C>A
NM_001079802.2(FKTN):c.165+18G>T
NM_001079802.2(FKTN):c.165+1G>T
NM_001079802.2(FKTN):c.165+3A>G
NM_001079802.2(FKTN):c.165+5G>A rs2132596368
NM_001079802.2(FKTN):c.165G>A (p.Trp55Ter)
NM_001079802.2(FKTN):c.166-11C>A
NM_001079802.2(FKTN):c.166-16T>C
NM_001079802.2(FKTN):c.166-16T>G
NM_001079802.2(FKTN):c.166-17C>T
NM_001079802.2(FKTN):c.166-1G>A
NM_001079802.2(FKTN):c.166-3C>A
NM_001079802.2(FKTN):c.166-7_166-6inv
NM_001079802.2(FKTN):c.166-9C>T rs1361772036
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.180dup (p.Phe61fs) rs2132704748
NM_001079802.2(FKTN):c.183T>C (p.Phe61=)
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.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.1A>C (p.Met1Leu)
NM_001079802.2(FKTN):c.208G>A (p.Val70Ile) rs1827814378
NM_001079802.2(FKTN):c.210A>T (p.Val70=)
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.222T>G (p.Leu74=)
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.231T>G (p.Pro77=) rs2132706103
NM_001079802.2(FKTN):c.238C>T (p.Leu80=) rs1404872177
NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro) rs371697266
NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)
NM_001079802.2(FKTN):c.251A>G (p.Asn84Ser)
NM_001079802.2(FKTN):c.252T>C (p.Asn84=)
NM_001079802.2(FKTN):c.256_257del (p.Asn86fs)
NM_001079802.2(FKTN):c.257A>T (p.Asn86Ile) rs1295912375
NM_001079802.2(FKTN):c.258C>T (p.Asn86=) rs1554751233
NM_001079802.2(FKTN):c.25G>C (p.Val9Leu) rs145387221
NM_001079802.2(FKTN):c.262G>C (p.Glu88Gln)
NM_001079802.2(FKTN):c.264A>G (p.Glu88=) rs2132706649
NM_001079802.2(FKTN):c.273A>G (p.Lys91=)
NM_001079802.2(FKTN):c.276T>C (p.Asn92=)
NM_001079802.2(FKTN):c.278C>T (p.Thr93Ile)
NM_001079802.2(FKTN):c.27T>G (p.Val9=)
NM_001079802.2(FKTN):c.281C>T (p.Ser94Phe)
NM_001079802.2(FKTN):c.283C>T (p.His95Tyr)
NM_001079802.2(FKTN):c.290C>G (p.Ser97Cys)
NM_001079802.2(FKTN):c.291T>C (p.Ser97=) rs2132707147
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.294T>A (p.Thr98=) rs2132707341
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.300A>G (p.Gln100=) rs1588088054
NM_001079802.2(FKTN):c.301T>C (p.Cys101Arg) rs886044095
NM_001079802.2(FKTN):c.303C>A (p.Cys101Ter)
NM_001079802.2(FKTN):c.306G>A (p.Lys102=)
NM_001079802.2(FKTN):c.312C>A (p.Phe104Leu) rs2132707762
NM_001079802.2(FKTN):c.312C>T (p.Phe104=)
NM_001079802.2(FKTN):c.314G>T (p.Cys105Phe) rs786205597
NM_001079802.2(FKTN):c.316G>T (p.Val106Phe)
NM_001079802.2(FKTN):c.319C>G (p.Pro107Ala) rs2132707901
NM_001079802.2(FKTN):c.321A>G (p.Pro107=) rs1488726924
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.329_330del (p.Phe110fs) rs767865405
NM_001079802.2(FKTN):c.330_335delinsGG (p.Phe110fs)
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.343C>T (p.Leu115=)
NM_001079802.2(FKTN):c.345G>A (p.Leu115=)
NM_001079802.2(FKTN):c.348G>A (p.Gln116=) rs1361635341
NM_001079802.2(FKTN):c.350A>G (p.Tyr117Cys)
NM_001079802.2(FKTN):c.354C>T (p.His118=)
NM_001079802.2(FKTN):c.355C>T (p.Leu119=) rs1554751390
NM_001079802.2(FKTN):c.360G>A (p.Trp120Ter) rs1564284467
NM_001079802.2(FKTN):c.367G>T (p.Glu123Ter) rs1376019203
NM_001079802.2(FKTN):c.369+10T>C rs2132709628
NM_001079802.2(FKTN):c.369+12G>A
NM_001079802.2(FKTN):c.369+1G>A rs764125009
NM_001079802.2(FKTN):c.369+20A>G rs1354235244
NM_001079802.2(FKTN):c.369+20A>T
NM_001079802.2(FKTN):c.369+2T>G
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.369+7G>A rs2132709548
NM_001079802.2(FKTN):c.370-10T>C
NM_001079802.2(FKTN):c.370-18A>T
NM_001079802.2(FKTN):c.370-2A>G rs1554752805
NM_001079802.2(FKTN):c.370-2A>T rs1554752805
NM_001079802.2(FKTN):c.370-7G>A rs797045577
NM_001079802.2(FKTN):c.370-7G>T rs797045577
NM_001079802.2(FKTN):c.370-8G>T
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.375C>T (p.Gly125=)
NM_001079802.2(FKTN):c.378del (p.Trp126fs)
NM_001079802.2(FKTN):c.37T>C (p.Leu13=) rs2132017021
NM_001079802.2(FKTN):c.384G>T (p.Arg128=)
NM_001079802.2(FKTN):c.388G>A (p.Ala130Thr)
NM_001079802.2(FKTN):c.394A>G (p.Asn132Asp) rs2132791236
NM_001079802.2(FKTN):c.395del (p.Asn132fs) rs2132791309
NM_001079802.2(FKTN):c.398del (p.Met133fs)
NM_001079802.2(FKTN):c.400G>A (p.Gly134Arg) rs1554752862
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.401G>T (p.Gly134Val) rs2132791726
NM_001079802.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs) rs1564290459
NM_001079802.2(FKTN):c.406C>T (p.Gln136Ter) rs2132792099
NM_001079802.2(FKTN):c.408G>C (p.Gln136His)
NM_001079802.2(FKTN):c.409T>A (p.Cys137Ser)
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.411C>T (p.Cys137=) rs537001725
NM_001079802.2(FKTN):c.412C>T (p.Leu138=)
NM_001079802.2(FKTN):c.41C>G (p.Thr14Arg) rs149033995
NM_001079802.2(FKTN):c.420_432dup (p.Pro145Ter) rs2132792659
NM_001079802.2(FKTN):c.425G>A (p.Ser142Asn) rs745597550
NM_001079802.2(FKTN):c.426T>G (p.Ser142Arg)
NM_001079802.2(FKTN):c.428_429delinsT (p.Lys143fs)
NM_001079802.2(FKTN):c.429del (p.Asp144fs) rs1057516258
NM_001079802.2(FKTN):c.42G>C (p.Thr14=) rs78794935
NM_001079802.2(FKTN):c.42G>T (p.Thr14=) rs78794935
NM_001079802.2(FKTN):c.432del (p.Arg146fs) rs1588110929
NM_001079802.2(FKTN):c.435C>G (p.Pro145=) rs1356233558
NM_001079802.2(FKTN):c.436dup (p.Arg146fs)
NM_001079802.2(FKTN):c.438G>T (p.Arg146=) rs769735457
NM_001079802.2(FKTN):c.439C>T (p.Leu147=)
NM_001079802.2(FKTN):c.43C>T (p.Leu15=)
NM_001079802.2(FKTN):c.441A>G (p.Leu147=) rs2132793754
NM_001079802.2(FKTN):c.442_443del (p.Asp148fs)
NM_001079802.2(FKTN):c.447G>T (p.Gly149=)
NM_001079802.2(FKTN):c.448A>G (p.Ile150Val) rs886044482
NM_001079802.2(FKTN):c.454dup (p.Ser152fs) rs587777748
NM_001079802.2(FKTN):c.456A>G (p.Ser152=)
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs) rs760731888
NM_001079802.2(FKTN):c.457C>G (p.Leu153Val) rs977350409
NM_001079802.2(FKTN):c.45G>T (p.Leu15=) rs2132017290
NM_001079802.2(FKTN):c.462T>A (p.Ser154=)
NM_001079802.2(FKTN):c.467C>A (p.Thr156Asn) rs1828456809
NM_001079802.2(FKTN):c.468T>G (p.Thr156=) rs752268829
NM_001079802.2(FKTN):c.473dup (p.Leu160fs)
NM_001079802.2(FKTN):c.475C>G (p.Pro159Ala) rs755830677
NM_001079802.2(FKTN):c.477C>T (p.Pro159=)
NM_001079802.2(FKTN):c.479T>C (p.Leu160Pro)
NM_001079802.2(FKTN):c.479del (p.Leu160fs)
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.483C>T (p.His161=) rs1319173869
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.48A>G (p.Thr16=) rs2132017319
NM_001079802.2(FKTN):c.499G>A (p.Ala167Thr) rs2132796265
NM_001079802.2(FKTN):c.49A>C (p.Ser17Arg)
NM_001079802.2(FKTN):c.49A>G (p.Ser17Gly)
NM_001079802.2(FKTN):c.501C>T (p.Ala167=)
NM_001079802.2(FKTN):c.505C>G (p.His169Asp) rs1243169303
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
NM_001079802.2(FKTN):c.507T>C (p.His169=) rs756766493
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu) rs119464997
NM_001079802.2(FKTN):c.509C>T (p.Ala170Val)
NM_001079802.2(FKTN):c.511A>T (p.Ile171Phe) rs1432918466
NM_001079802.2(FKTN):c.513C>A (p.Ile171=)
NM_001079802.2(FKTN):c.515A>T (p.His172Leu) rs758166890
NM_001079802.2(FKTN):c.51T>C (p.Ser17=)
NM_001079802.2(FKTN):c.520G>A (p.Val174Ile) rs749663903
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_001079802.2(FKTN):c.528dup (p.His177fs) rs1588112379
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.531T>C (p.His177=) rs534638144
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr) rs119463994
NM_001079802.2(FKTN):c.537G>A (p.Arg179=)
NM_001079802.2(FKTN):c.538A>T (p.Ser180Cys) rs2132798439
NM_001079802.2(FKTN):c.539G>T (p.Ser180Ile)
NM_001079802.2(FKTN):c.540T>C (p.Ser180=)
NM_001079802.2(FKTN):c.540del (p.Ser180fs) rs1828477244
NM_001079802.2(FKTN):c.543C>G (p.Gly181=)
NM_001079802.2(FKTN):c.545A>C (p.Asn182Thr) rs760170065
NM_001079802.2(FKTN):c.546C>T (p.Asn182=)
NM_001079802.2(FKTN):c.547T>A (p.Tyr183Asn) rs1163774436
NM_001079802.2(FKTN):c.549C>T (p.Tyr183=)
NM_001079802.2(FKTN):c.552C>T (p.Leu184=) rs2132798933
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.565T>C (p.Leu189=)
NM_001079802.2(FKTN):c.567G>C (p.Leu189Phe) rs988842962
NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer) rs2132800044
NM_001079802.2(FKTN):c.569G>A (p.Arg190Lys) rs760967116
NM_001079802.2(FKTN):c.569_570del (p.Arg190fs)
NM_001079802.2(FKTN):c.57A>G (p.Ala19=) rs2132017433
NM_001079802.2(FKTN):c.585dup (p.Asp196Ter) rs2132800552
NM_001079802.2(FKTN):c.586G>T (p.Asp196Tyr) rs756748012
NM_001079802.2(FKTN):c.587_590del (p.Asp196fs)
NM_001079802.2(FKTN):c.58T>G (p.Phe20Val) rs1554731003
NM_001079802.2(FKTN):c.591G>A (p.Arg197=)
NM_001079802.2(FKTN):c.615A>G (p.Leu205=)
NM_001079802.2(FKTN):c.617A>C (p.Gln206Pro)
NM_001079802.2(FKTN):c.619T>G (p.Phe207Val) rs1461669175
NM_001079802.2(FKTN):c.61C>T (p.Leu21=) rs2132017500
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.626_627dup (p.Tyr210fs)
NM_001079802.2(FKTN):c.630T>A (p.Tyr210Ter)
NM_001079802.2(FKTN):c.638C>T (p.Ala213Val) rs774612427
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.645C>T (p.Asp215=) rs1464758743
NM_001079802.2(FKTN):c.647+12G>T
NM_001079802.2(FKTN):c.647+17A>G
NM_001079802.2(FKTN):c.647+1G>A rs2132802825
NM_001079802.2(FKTN):c.647+20G>A
NM_001079802.2(FKTN):c.647+3A>G rs1828504981
NM_001079802.2(FKTN):c.647+5_647+7dup
NM_001079802.2(FKTN):c.647+8C>T
NM_001079802.2(FKTN):c.647+8_647+9del rs2132803231
NM_001079802.2(FKTN):c.647+9A>C rs1588113617
NM_001079802.2(FKTN):c.647+9A>G
NM_001079802.2(FKTN):c.647G>A (p.Arg216Lys) rs1828504500
NM_001079802.2(FKTN):c.647G>T (p.Arg216Met)
NM_001079802.2(FKTN):c.648-10T>C rs887162237
NM_001079802.2(FKTN):c.648-10_648-9del
NM_001079802.2(FKTN):c.648-1243G>A rs1554754182
NM_001079802.2(FKTN):c.648-1243G>T rs1554754182
NM_001079802.2(FKTN):c.648-15A>T
NM_001079802.2(FKTN):c.648-17T>A
NM_001079802.2(FKTN):c.648-18C>A
NM_001079802.2(FKTN):c.648-25_648-5del
NM_001079802.2(FKTN):c.648-2A>G
NM_001079802.2(FKTN):c.648-3C>T rs1430063746
NM_001079802.2(FKTN):c.648-4T>C rs1829177357
NM_001079802.2(FKTN):c.648-7T>C
NM_001079802.2(FKTN):c.64C>T (p.Leu22=)
NM_001079802.2(FKTN):c.650del (p.Pro217fs)
NM_001079802.2(FKTN):c.653A>T (p.Glu218Val) rs978338266
NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter) rs754081311
NM_001079802.2(FKTN):c.658_661del (p.Gln220fs) rs1057517160
NM_001079802.2(FKTN):c.659A>G (p.Gln220Arg)
NM_001079802.2(FKTN):c.660G>A (p.Gln220=)
NM_001079802.2(FKTN):c.663A>G (p.Gln221=)
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile) rs1293245717
NM_001079802.2(FKTN):c.666T>C (p.Val222=)
NM_001079802.2(FKTN):c.667A>G (p.Thr223Ala)
NM_001079802.2(FKTN):c.66G>C (p.Leu22=)
NM_001079802.2(FKTN):c.672T>C (p.Val224=) rs2132898704
NM_001079802.2(FKTN):c.675T>A (p.Asp225Glu)
NM_001079802.2(FKTN):c.675T>C (p.Asp225=)
NM_001079802.2(FKTN):c.676G>T (p.Gly226Ter)
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.690C>G (p.Leu230=)
NM_001079802.2(FKTN):c.696A>G (p.Pro232=)
NM_001079802.2(FKTN):c.69T>C (p.Phe23=) rs1238906881
NM_001079802.2(FKTN):c.69T>G (p.Phe23Leu)
NM_001079802.2(FKTN):c.69dup (p.Gln24fs)
NM_001079802.2(FKTN):c.6T>C (p.Ser2=) rs1350049256
NM_001079802.2(FKTN):c.705A>G (p.Pro235=) rs1829190548
NM_001079802.2(FKTN):c.705A>T (p.Pro235=)
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.738G>A (p.Arg246=)
NM_001079802.2(FKTN):c.73T>C (p.Leu25=) rs2132017783
NM_001079802.2(FKTN):c.743T>C (p.Ile248Thr) rs2132900809
NM_001079802.2(FKTN):c.745G>T (p.Glu249Ter)
NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)
NM_001079802.2(FKTN):c.750T>C (p.Cys250=) rs2132901145
NM_001079802.2(FKTN):c.750_751insG (p.Arg251fs)
NM_001079802.2(FKTN):c.751A>G (p.Arg251Gly)
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter) rs1564301594
NM_001079802.2(FKTN):c.759A>G (p.Lys253=)
NM_001079802.2(FKTN):c.765T>C (p.Ala255=) rs2132901560
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter) rs377417974
NM_001079802.2(FKTN):c.767G>A (p.Arg256Gln)
NM_001079802.2(FKTN):c.768A>C (p.Arg256=)
NM_001079802.2(FKTN):c.770del (p.Ala257fs) rs1057516966
NM_001079802.2(FKTN):c.771A>G (p.Ala257=)
NM_001079802.2(FKTN):c.774C>G (p.Phe258Leu) rs1829205310
NM_001079802.2(FKTN):c.780+10A>G
NM_001079802.2(FKTN):c.780+10A>T rs2132902784
NM_001079802.2(FKTN):c.780+11A>G rs1829208773
NM_001079802.2(FKTN):c.780+11del rs931791589
NM_001079802.2(FKTN):c.780+12C>A
NM_001079802.2(FKTN):c.780+13C>G
NM_001079802.2(FKTN):c.780+15_780+16dup rs765546968
NM_001079802.2(FKTN):c.780+16A>C
NM_001079802.2(FKTN):c.780+16A>G
NM_001079802.2(FKTN):c.780+18G>T
NM_001079802.2(FKTN):c.780+19T>C rs752490932
NM_001079802.2(FKTN):c.780+1G>A rs370819786
NM_001079802.2(FKTN):c.780+20G>A rs560193714
NM_001079802.2(FKTN):c.780+20G>C
NM_001079802.2(FKTN):c.780+20G>T
NM_001079802.2(FKTN):c.780+2T>A
NM_001079802.2(FKTN):c.780+2T>C rs1588136441
NM_001079802.2(FKTN):c.780+7G>A
NM_001079802.2(FKTN):c.780G>A (p.Gln260=) rs1459814015
NM_001079802.2(FKTN):c.781-10A>C rs2133098060
NM_001079802.2(FKTN):c.781-10A>T rs2133098060
NM_001079802.2(FKTN):c.781-11_781-9del rs1830613326
NM_001079802.2(FKTN):c.781-12T>C
NM_001079802.2(FKTN):c.781-14T>C
NM_001079802.2(FKTN):c.781-15T>A
NM_001079802.2(FKTN):c.781-17A>G
NM_001079802.2(FKTN):c.781-1G>A
NM_001079802.2(FKTN):c.781-3T>A rs2133098515
NM_001079802.2(FKTN):c.781-4G>A rs1588182774
NM_001079802.2(FKTN):c.781-8A>C
NM_001079802.2(FKTN):c.781C>T (p.Gln261Ter)
NM_001079802.2(FKTN):c.783G>A (p.Gln261=)
NM_001079802.2(FKTN):c.784T>C (p.Tyr262His)
NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg) rs1564318575
NM_001079802.2(FKTN):c.789del (p.Asp264fs)
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter) rs369797361
NM_001079802.2(FKTN):c.794A>G (p.Asp265Gly) rs2133098941
NM_001079802.2(FKTN):c.801T>C (p.Thr267=) rs2133099117
NM_001079802.2(FKTN):c.803_804del (p.Val268fs)
NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg) rs2133099564
NM_001079802.2(FKTN):c.82_83insGT (p.Tyr28fs)
NM_001079802.2(FKTN):c.835G>A (p.Glu279Lys)
NM_001079802.2(FKTN):c.836A>G (p.Glu279Gly)
NM_001079802.2(FKTN):c.838T>C (p.Leu280=) rs2133099979
NM_001079802.2(FKTN):c.83A>G (p.Tyr28Cys) rs374203636
NM_001079802.2(FKTN):c.840dup (p.Leu281fs)
NM_001079802.2(FKTN):c.841C>G (p.Leu281Val) rs199697041
NM_001079802.2(FKTN):c.844C>T (p.Gln282Ter)
NM_001079802.2(FKTN):c.861A>C (p.Thr287=)
NM_001079802.2(FKTN):c.861A>G (p.Thr287=)
NM_001079802.2(FKTN):c.861A>T (p.Thr287=)
NM_001079802.2(FKTN):c.867C>T (p.Asn289=) rs1554757882
NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter) rs1438288380
NM_001079802.2(FKTN):c.877G>T (p.Val293Leu) rs146900302
NM_001079802.2(FKTN):c.882A>G (p.Pro294=)
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.900A>G (p.Gly300=)
NM_001079802.2(FKTN):c.905G>A (p.Cys302Tyr) rs1554757939
NM_001079802.2(FKTN):c.907C>T (p.Leu303=) rs147778604
NM_001079802.2(FKTN):c.90C>T (p.His30=) rs2132018196
NM_001079802.2(FKTN):c.910+12A>C
NM_001079802.2(FKTN):c.910+12A>G
NM_001079802.2(FKTN):c.910+13C>G
NM_001079802.2(FKTN):c.910+19T>C rs771773538
NM_001079802.2(FKTN):c.910+19T>G rs771773538
NM_001079802.2(FKTN):c.910+1G>C
NM_001079802.2(FKTN):c.910+7T>G rs1830641729
NM_001079802.2(FKTN):c.910+8T>A rs2133101895
NM_001079802.2(FKTN):c.911-13A>G rs766103012
NM_001079802.2(FKTN):c.911-13A>T rs766103012
NM_001079802.2(FKTN):c.911-16T>G
NM_001079802.2(FKTN):c.911-18A>T
NM_001079802.2(FKTN):c.911-2A>C
NM_001079802.2(FKTN):c.911-7T>C rs2133160455
NM_001079802.2(FKTN):c.911-8C>T rs749557617
NM_001079802.2(FKTN):c.911-8_911-6del rs1235625341
NM_001079802.2(FKTN):c.912A>G (p.Gly304=) rs778424333
NM_001079802.2(FKTN):c.912A>T (p.Gly304=)
NM_001079802.2(FKTN):c.914G>A (p.Trp305Ter) rs2133160637
NM_001079802.2(FKTN):c.915G>C (p.Trp305Cys)
NM_001079802.2(FKTN):c.917A>G (p.Tyr306Cys)
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
NM_001079802.2(FKTN):c.921A>G (p.Arg307=)
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.93T>A (p.Tyr31Ter) rs2132018294
NM_001079802.2(FKTN):c.93T>C (p.Tyr31=) rs2132018294
NM_001079802.2(FKTN):c.941A>G (p.Tyr314Cys) rs1451453111
NM_001079802.2(FKTN):c.942T>G (p.Tyr314Ter) rs970907026
NM_001079802.2(FKTN):c.952G>A (p.Val318Ile) rs141120187
NM_001079802.2(FKTN):c.960A>T (p.Leu320=) rs2133161727
NM_001079802.2(FKTN):c.961G>A (p.Gly321Arg) rs1831143790
NM_001079802.2(FKTN):c.964A>T (p.Ile322Phe)
NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs)
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.979_985dup (p.Ser329fs)
NM_001079802.2(FKTN):c.980A>G (p.Tyr327Cys)
NM_001079802.2(FKTN):c.984A>G (p.Lys328=)
NM_001079802.2(FKTN):c.993T>C (p.Ile331=)
NM_001079802.2(FKTN):c.998T>C (p.Leu333Ser)
NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]
NM_006731.2:c.911-24_911-23insN[1200]

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