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.139C>T (p.Arg47Ter)
|
rs119463990
|
0.00001
|
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter)
|
rs119463991
|
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.920G>A (p.Arg307Gln)
|
rs119463992
|
0.00001
|
NC_000009.11:g.(?_108320401)_(108337428_?)del
|
|
|
NC_000009.11:g.(?_108335926)_(108403409_?)del
|
|
|
NC_000009.11:g.(?_108337304)_(108397555_?)del
|
|
|
NC_000009.11:g.(?_108377549)_(108382383_?)del
|
|
|
NC_000009.12:g.(?_105575023)_(105575147_?)del
|
|
|
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.1022del (p.Pro341fs)
|
rs2133163213
|
|
NM_001079802.2(FKTN):c.107dup (p.Asn36fs)
|
|
|
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.1117G>T (p.Glu373Ter)
|
|
|
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)
|
rs1588222602
|
|
NM_001079802.2(FKTN):c.1167del (p.Lys389fs)
|
rs398123555
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
NM_001079802.2(FKTN):c.1172+1G>A
|
rs1554761462
|
|
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.1317_1318dup (p.Pro440fs)
|
rs886042778
|
|
NM_001079802.2(FKTN):c.164G>A (p.Trp55Ter)
|
|
|
NM_001079802.2(FKTN):c.165G>A (p.Trp55Ter)
|
|
|
NM_001079802.2(FKTN):c.180dup (p.Phe61fs)
|
rs2132704748
|
|
NM_001079802.2(FKTN):c.187_188del (p.Met63fs)
|
rs587777813
|
|
NM_001079802.2(FKTN):c.256_257del (p.Asn86fs)
|
|
|
NM_001079802.2(FKTN):c.329_330del (p.Phe110fs)
|
rs767865405
|
|
NM_001079802.2(FKTN):c.330dup (p.Thr111fs)
|
rs767865405
|
|
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.395del (p.Asn132fs)
|
rs2132791309
|
|
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.411C>A (p.Cys137Ter)
|
rs537001725
|
|
NM_001079802.2(FKTN):c.420_432dup (p.Pro145Ter)
|
rs2132792659
|
|
NM_001079802.2(FKTN):c.429del (p.Asp144fs)
|
rs1057516258
|
|
NM_001079802.2(FKTN):c.432del (p.Arg146fs)
|
rs1588110929
|
|
NM_001079802.2(FKTN):c.454dup (p.Ser152fs)
|
rs587777748
|
|
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)
|
rs760731888
|
|
NM_001079802.2(FKTN):c.473dup (p.Leu160fs)
|
|
|
NM_001079802.2(FKTN):c.479del (p.Leu160fs)
|
|
|
NM_001079802.2(FKTN):c.528dup (p.His177fs)
|
rs1588112379
|
|
NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer)
|
rs2132800044
|
|
NM_001079802.2(FKTN):c.585dup (p.Asp196Ter)
|
rs2132800552
|
|
NM_001079802.2(FKTN):c.626_627dup (p.Tyr210fs)
|
|
|
NM_001079802.2(FKTN):c.630T>A (p.Tyr210Ter)
|
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
NM_001079802.2(FKTN):c.648-1243G>T
|
rs1554754182
|
|
NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter)
|
rs754081311
|
|
NM_001079802.2(FKTN):c.745G>T (p.Glu249Ter)
|
|
|
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)
|
rs1564301594
|
|
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)
|
rs377417974
|
|
NM_001079802.2(FKTN):c.803_804del (p.Val268fs)
|
|
|
NM_001079802.2(FKTN):c.82_83insGT (p.Tyr28fs)
|
|
|
NM_001079802.2(FKTN):c.844C>T (p.Gln282Ter)
|
|
|
NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter)
|
rs1438288380
|
|
NM_001079802.2(FKTN):c.910+1G>C
|
|
|
NM_001079802.2(FKTN):c.914G>A (p.Trp305Ter)
|
rs2133160637
|
|
NM_001079802.2(FKTN):c.93T>A (p.Tyr31Ter)
|
rs2132018294
|
|
NM_001079802.2(FKTN):c.942T>G (p.Tyr314Ter)
|
rs970907026
|
|
NM_001079802.2(FKTN):c.979_985dup (p.Ser329fs)
|
|
|