NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
|
rs267606814
|
0.00002
|
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs)
|
rs1554761402
|
0.00001
|
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer)
|
rs1309132512
|
0.00001
|
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)
|
rs746763506
|
0.00001
|
NM_001079802.2(FKTN):c.*4859A>G
|
rs1554768242
|
|
NM_001079802.2(FKTN):c.*4859A>T
|
rs1554768242
|
|
NM_001079802.2(FKTN):c.-181+1G>C
|
rs574535599
|
|
NM_001079802.2(FKTN):c.-1_2del (p.Met1del)
|
rs1180986256
|
|
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.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.1264_1286del (p.Asn422fs)
|
rs1554766898
|
|
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.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.411C>A (p.Cys137Ter)
|
rs537001725
|
|
NM_001079802.2(FKTN):c.429del (p.Asp144fs)
|
rs1057516258
|
|
NM_001079802.2(FKTN):c.557A>G (p.His186Arg)
|
rs1448279636
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
NM_001079802.2(FKTN):c.658_661del (p.Gln220fs)
|
rs1057517160
|
|
NM_001079802.2(FKTN):c.770del (p.Ala257fs)
|
rs1057516966
|
|
NM_001079802.2(FKTN):c.780+1G>A
|
rs370819786
|
|