ClinVar Miner

List of variants in gene FKTN reported as likely benign for congenital muscular dystrophy

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 325
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.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_001079802.2(FKTN):c.*4825T>C rs115155934 0.01517
NM_001079802.2(FKTN):c.*818C>T rs79162268 0.01167
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.*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.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_001079802.2(FKTN):c.*1018T>A rs16924759 0.00204
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625 0.00084
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.910+13C>T rs375259473 0.00026
NM_001079802.2(FKTN):c.102A>C (p.Thr34=) rs138740640 0.00025
NM_001079802.2(FKTN):c.333T>C (p.Thr111=) rs141729611 0.00015
NM_001079802.2(FKTN):c.647+12G>A rs372589966 0.00011
NM_001079802.2(FKTN):c.106-13G>C rs370216581 0.00007
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.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.444C>T (p.Asp148=) rs759808323 0.00004
NM_001079802.2(FKTN):c.647+19C>T rs371472520 0.00004
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.911-8C>A rs749557617 0.00003
NM_001079802.2(FKTN):c.1230T>C (p.His410=) rs189927779 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.63G>C (p.Leu21=) rs766642997 0.00002
NM_001079802.2(FKTN):c.911-17T>A rs201625324 0.00002
NM_001079802.2(FKTN):c.*777C>A rs369316426 0.00001
NM_001079802.2(FKTN):c.111A>G (p.Gly37=) rs199594298 0.00001
NM_001079802.2(FKTN):c.1172+11A>T rs891588561 0.00001
NM_001079802.2(FKTN):c.117T>C (p.Gly39=) rs766999475 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.1299G>A (p.Thr433=) rs912930168 0.00001
NM_001079802.2(FKTN):c.129C>T (p.Ser43=) rs760571628 0.00001
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=) rs904253784 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.330T>C (p.Phe110=) rs769567661 0.00001
NM_001079802.2(FKTN):c.357A>G (p.Leu119=) rs760933616 0.00001
NM_001079802.2(FKTN):c.558C>T (p.His186=) rs761342779 0.00001
NM_001079802.2(FKTN):c.588C>T (p.Asp196=) rs1222153269 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.75G>A (p.Leu25=) rs188900946 0.00001
NM_001079802.2(FKTN):c.78C>T (p.Tyr26=) rs369797361 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.910+9C>G rs1261411883 0.00001
NM_001079802.2(FKTN):c.911-12T>A rs1831127930 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.978T>C (p.Asp326=) rs1018122957 0.00001
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.1023G>T (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1026C>T (p.Leu342=) rs17309806
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.1045-13A>G
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.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.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.106-20T>C
NM_001079802.2(FKTN):c.106-20T>G
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.1080A>G (p.Lys360=) rs2133210088
NM_001079802.2(FKTN):c.1086T>C (p.Asp362=) rs1588221689
NM_001079802.2(FKTN):c.1098T>C (p.Asp366=)
NM_001079802.2(FKTN):c.1101T>C (p.Val367=)
NM_001079802.2(FKTN):c.1101T>G (p.Val367=)
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.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.1158A>G (p.Thr386=) rs886044528
NM_001079802.2(FKTN):c.1167A>G (p.Lys389=)
NM_001079802.2(FKTN):c.1172+13dup
NM_001079802.2(FKTN):c.1172+19C>T
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.1173-4G>A
NM_001079802.2(FKTN):c.1173-9T>A rs2133450310
NM_001079802.2(FKTN):c.1176C>T (p.Tyr392=)
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.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.1209G>A (p.Glu403=) rs2133451076
NM_001079802.2(FKTN):c.120G>A (p.Leu40=)
NM_001079802.2(FKTN):c.1236C>A (p.Pro412=) rs1554766880
NM_001079802.2(FKTN):c.1248C>G (p.Leu416=) rs774804160
NM_001079802.2(FKTN):c.1263C>T (p.Ala421=)
NM_001079802.2(FKTN):c.1266C>T (p.Asn422=)
NM_001079802.2(FKTN):c.1269T>C (p.Tyr423=) rs1554766906
NM_001079802.2(FKTN):c.1278C>T (p.Thr426=) rs2133452125
NM_001079802.2(FKTN):c.1287T>A (p.Ile429=) rs2133452264
NM_001079802.2(FKTN):c.1290T>G (p.Pro430=) rs2133452334
NM_001079802.2(FKTN):c.12C>T (p.Ile4=) rs1389073650
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.1350T>C (p.Pro450=) rs2133453085
NM_001079802.2(FKTN):c.1359G>A (p.Glu453=) rs2133453218
NM_001079802.2(FKTN):c.1368G>A (p.Glu456=)
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.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.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.166-7_166-6inv
NM_001079802.2(FKTN):c.166-9C>T rs1361772036
NM_001079802.2(FKTN):c.183T>C (p.Phe61=)
NM_001079802.2(FKTN):c.210A>T (p.Val70=)
NM_001079802.2(FKTN):c.222T>G (p.Leu74=)
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.252T>C (p.Asn84=)
NM_001079802.2(FKTN):c.258C>T (p.Asn86=) rs1554751233
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.27T>G (p.Val9=)
NM_001079802.2(FKTN):c.291T>C (p.Ser97=) rs2132707147
NM_001079802.2(FKTN):c.294T>A (p.Thr98=) rs2132707341
NM_001079802.2(FKTN):c.300A>G (p.Gln100=) rs1588088054
NM_001079802.2(FKTN):c.306G>A (p.Lys102=)
NM_001079802.2(FKTN):c.312C>T (p.Phe104=)
NM_001079802.2(FKTN):c.321A>G (p.Pro107=) rs1488726924
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.354C>T (p.His118=)
NM_001079802.2(FKTN):c.355C>T (p.Leu119=) rs1554751390
NM_001079802.2(FKTN):c.369+10T>C rs2132709628
NM_001079802.2(FKTN):c.369+12G>A
NM_001079802.2(FKTN):c.369+20A>G rs1354235244
NM_001079802.2(FKTN):c.369+20A>T
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.370-7G>A rs797045577
NM_001079802.2(FKTN):c.370-7G>T rs797045577
NM_001079802.2(FKTN):c.370-8G>T
NM_001079802.2(FKTN):c.375C>T (p.Gly125=)
NM_001079802.2(FKTN):c.37T>C (p.Leu13=) rs2132017021
NM_001079802.2(FKTN):c.384G>T (p.Arg128=)
NM_001079802.2(FKTN):c.411C>T (p.Cys137=) rs537001725
NM_001079802.2(FKTN):c.412C>T (p.Leu138=)
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.435C>G (p.Pro145=) rs1356233558
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.456A>G (p.Ser152=)
NM_001079802.2(FKTN):c.45G>T (p.Leu15=) rs2132017290
NM_001079802.2(FKTN):c.462T>A (p.Ser154=)
NM_001079802.2(FKTN):c.468T>G (p.Thr156=) rs752268829
NM_001079802.2(FKTN):c.483C>T (p.His161=) rs1319173869
NM_001079802.2(FKTN):c.48A>G (p.Thr16=) rs2132017319
NM_001079802.2(FKTN):c.501C>T (p.Ala167=)
NM_001079802.2(FKTN):c.507T>C (p.His169=) rs756766493
NM_001079802.2(FKTN):c.513C>A (p.Ile171=)
NM_001079802.2(FKTN):c.51T>C (p.Ser17=)
NM_001079802.2(FKTN):c.531T>C (p.His177=) rs534638144
NM_001079802.2(FKTN):c.537G>A (p.Arg179=)
NM_001079802.2(FKTN):c.540T>C (p.Ser180=)
NM_001079802.2(FKTN):c.543C>G (p.Gly181=)
NM_001079802.2(FKTN):c.546C>T (p.Asn182=)
NM_001079802.2(FKTN):c.549C>T (p.Tyr183=)
NM_001079802.2(FKTN):c.552C>T (p.Leu184=) rs2132798933
NM_001079802.2(FKTN):c.565T>C (p.Leu189=)
NM_001079802.2(FKTN):c.57A>G (p.Ala19=) rs2132017433
NM_001079802.2(FKTN):c.615A>G (p.Leu205=)
NM_001079802.2(FKTN):c.61C>T (p.Leu21=) rs2132017500
NM_001079802.2(FKTN):c.645C>T (p.Asp215=) rs1464758743
NM_001079802.2(FKTN):c.647+12G>T
NM_001079802.2(FKTN):c.647+20G>A
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.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.648-15A>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.648-4T>C rs1829177357
NM_001079802.2(FKTN):c.648-7T>C
NM_001079802.2(FKTN):c.64C>T (p.Leu22=)
NM_001079802.2(FKTN):c.660G>A (p.Gln220=)
NM_001079802.2(FKTN):c.663A>G (p.Gln221=)
NM_001079802.2(FKTN):c.666T>C (p.Val222=)
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>C (p.Asp225=)
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.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.738G>A (p.Arg246=)
NM_001079802.2(FKTN):c.73T>C (p.Leu25=) rs2132017783
NM_001079802.2(FKTN):c.750T>C (p.Cys250=) rs2132901145
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.768A>C (p.Arg256=)
NM_001079802.2(FKTN):c.771A>G (p.Ala257=)
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+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+7G>A
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.781-4G>A rs1588182774
NM_001079802.2(FKTN):c.781-8A>C
NM_001079802.2(FKTN):c.783G>A (p.Gln261=)
NM_001079802.2(FKTN):c.801T>C (p.Thr267=) rs2133099117
NM_001079802.2(FKTN):c.838T>C (p.Leu280=) rs2133099979
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.882A>G (p.Pro294=)
NM_001079802.2(FKTN):c.900A>G (p.Gly300=)
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>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+8T>A rs2133101895
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.911-7T>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.921A>G (p.Arg307=)
NM_001079802.2(FKTN):c.93T>C (p.Tyr31=) rs2132018294
NM_001079802.2(FKTN):c.960A>T (p.Leu320=) rs2133161727
NM_001079802.2(FKTN):c.993T>C (p.Ile331=)

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