NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)
|
rs137853312
|
0.00001
|
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)
|
rs797045044
|
0.00001
|
NC_000023.10:g.(?_153576900)_(153599729_?)del
|
|
|
NC_000023.10:g.(?_153592874)_(153593874_?)del
|
|
|
NC_000023.10:g.(?_153595748)_(153596947_?)del
|
|
|
NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)
|
rs2067763458
|
|
NM_001110556.2(FLNA):c.1062_1063del (p.His354fs)
|
|
|
NM_001110556.2(FLNA):c.1065G>A (p.Lys355=)
|
rs1557179325
|
|
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter)
|
rs2067761804
|
|
NM_001110556.2(FLNA):c.1112_1113dup (p.Val372fs)
|
rs2148118072
|
|
NM_001110556.2(FLNA):c.1119C>A (p.Tyr373Ter)
|
|
|
NM_001110556.2(FLNA):c.1133_1134del (p.Gln378fs)
|
rs1603362871
|
|
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)
|
rs2067760741
|
|
NM_001110556.2(FLNA):c.122G>A (p.Trp41Ter)
|
|
|
NM_001110556.2(FLNA):c.145_146del (p.Phe49fs)
|
|
|
NM_001110556.2(FLNA):c.1525_1528del (p.Gly509fs)
|
|
|
NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter)
|
rs1447594194
|
|
NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter)
|
rs2148116288
|
|
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs)
|
rs2067741257
|
|
NM_001110556.2(FLNA):c.2026_2029dup (p.Ala677fs)
|
|
|
NM_001110556.2(FLNA):c.2190_2193del (p.Tyr731fs)
|
rs863223630
|
|
NM_001110556.2(FLNA):c.2191_2192insGT (p.Tyr731fs)
|
rs2148115776
|
|
NM_001110556.2(FLNA):c.2283dup (p.Asn762fs)
|
rs2067723474
|
|
NM_001110556.2(FLNA):c.2452del (p.Ala818fs)
|
rs1603361851
|
|
NM_001110556.2(FLNA):c.245A>T (p.Glu82Val)
|
rs28935169
|
|
NM_001110556.2(FLNA):c.2565+1G>A
|
rs786205186
|
|
NM_001110556.2(FLNA):c.259_260insG (p.Lys87fs)
|
|
|
NM_001110556.2(FLNA):c.2751_2752dup (p.Asp918fs)
|
rs2148114051
|
|
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)
|
rs398123614
|
|
NM_001110556.2(FLNA):c.2947dup (p.Val983fs)
|
rs2148113628
|
|
NM_001110556.2(FLNA):c.2963_2964del (p.Asp988fs)
|
rs2148113604
|
|
NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter)
|
rs1557178045
|
|
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs)
|
rs1603361195
|
|
NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs)
|
rs2148121859
|
|
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter)
|
rs1557177738
|
|
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)
|
rs28935473
|
|
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu)
|
rs1060500716
|
|
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter)
|
rs2067693064
|
|
NM_001110556.2(FLNA):c.3775C>T (p.Gln1259Ter)
|
rs1557177663
|
|
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs)
|
rs1557177636
|
|
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter)
|
rs1557177623
|
|
NM_001110556.2(FLNA):c.4138dup (p.Thr1380fs)
|
rs2148111417
|
|
NM_001110556.2(FLNA):c.4281del (p.Tyr1428fs)
|
rs2148111202
|
|
NM_001110556.2(FLNA):c.4543C>T (p.Arg1515Ter)
|
rs186214592
|
|
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter)
|
rs781789823
|
|
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs)
|
rs1557177086
|
|
NM_001110556.2(FLNA):c.5084_5085del (p.Glu1695fs)
|
|
|
NM_001110556.2(FLNA):c.5146del (p.Gln1716fs)
|
rs1557176615
|
|
NM_001110556.2(FLNA):c.5160C>G (p.Tyr1720Ter)
|
|
|
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)
|
rs387907371
|
|
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs)
|
rs1569551502
|
|
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)
|
rs1359141531
|
|
NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter)
|
rs2148119354
|
|
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)
|
rs137853317
|
|
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs)
|
rs1603359464
|
|
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs)
|
rs1060500718
|
|
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)
|
rs28935469
|
|
NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter)
|
rs2148104651
|
|
NM_001110556.2(FLNA):c.6329_6330del (p.Glu2110fs)
|
rs2148104615
|
|
NM_001110556.2(FLNA):c.6395_6396del (p.Val2132fs)
|
|
|
NM_001110556.2(FLNA):c.6496del (p.Ile2166fs)
|
|
|
NM_001110556.2(FLNA):c.656del (p.Ser219fs)
|
rs2148119182
|
|
NM_001110556.2(FLNA):c.6586del (p.His2196fs)
|
rs2067626336
|
|
NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs)
|
rs786205178
|
|
NM_001110556.2(FLNA):c.6677dup (p.Gln2227fs)
|
rs2148103917
|
|
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter)
|
rs1060500717
|
|
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter)
|
rs1569551861
|
|
NM_001110556.2(FLNA):c.6770_6774del (p.Ala2257fs)
|
|
|
NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter)
|
rs2148103458
|
|
NM_001110556.2(FLNA):c.7005_7008del (p.Thr2336fs)
|
rs2148103004
|
|
NM_001110556.2(FLNA):c.7202del (p.Leu2401fs)
|
|
|
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter)
|
rs782308324
|
|
NM_001110556.2(FLNA):c.7285_7286dup (p.Gly2430fs)
|
rs2148101228
|
|
NM_001110556.2(FLNA):c.7363_7364insCGTGAACACCA (p.Ser2455delinsThrTer)
|
|
|
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys)
|
rs28935470
|
|
NM_001110556.2(FLNA):c.812del (p.Pro271fs)
|
rs2148118964
|
|
NM_001110556.2(FLNA):c.829_835del (p.Arg276_Pro277insTer)
|
rs2148118942
|
|
NM_001110556.2(FLNA):c.917_918del (p.Val306fs)
|
|
|
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer)
|
rs1557179357
|
|