|
NM_001458.5(FLNC):c.970-4A>G
|
rs532143625
|
0.00015
|
|
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)
|
rs879255639
|
0.00003
|
|
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser)
|
rs774263134
|
0.00002
|
|
NM_001458.5(FLNC):c.3791-1G>C
|
rs781135153
|
0.00001
|
|
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met)
|
rs1420394583
|
0.00001
|
|
NC_000007.13:g.(?_128469483)_(128500328_?)del
|
|
|
|
NC_000007.13:g.(?_128470682)_(128498587_?)del
|
|
|
|
NC_000007.13:g.(?_128470692)_(128498577_?)del
|
|
|
|
NC_000007.13:g.(?_128475360)_(128478877_?)del
|
|
|
|
NC_000007.13:g.(?_128480619)_(128486474_?)del
|
|
|
|
NC_000007.13:g.(?_128487731)_(128488142_?)del
|
|
|
|
NC_000007.14:g.(?_128848551)_(128848992_?)del
|
|
|
|
NC_000007.14:g.128837160del
|
|
|
|
NC_000007.14:g.128854417_128854448del
|
|
|
|
NM_001458.4(FLNC):c.3791-1delG
|
rs1808546796
|
|
|
NM_001458.4(FLNC):c.[2971C>T];[318C>G]
|
|
|
|
NM_001458.5(FLNC):c.1027A>T (p.Lys343Ter)
|
rs745495679
|
|
|
NM_001458.5(FLNC):c.102G>A (p.Trp34Ter)
|
rs2128932126
|
|
|
NM_001458.5(FLNC):c.1055_1056del (p.Val352fs)
|
|
|
|
NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter)
|
rs2128934390
|
|
|
NM_001458.5(FLNC):c.1092dup (p.Glu365Ter)
|
|
|
|
NM_001458.5(FLNC):c.1111dup (p.Ala371fs)
|
rs2128934407
|
|
|
NM_001458.5(FLNC):c.1136C>G (p.Ser379Ter)
|
|
|
|
NM_001458.5(FLNC):c.1156G>T (p.Glu386Ter)
|
|
|
|
NM_001458.5(FLNC):c.1166dup (p.Asn390fs)
|
|
|
|
NM_001458.5(FLNC):c.1205del (p.Thr402fs)
|
rs2128934432
|
|
|
NM_001458.5(FLNC):c.1206_1207dup (p.Ala403fs)
|
|
|
|
NM_001458.5(FLNC):c.123del (p.Phe42fs)
|
|
|
|
NM_001458.5(FLNC):c.1260del (p.Arg421fs)
|
rs2128934500
|
|
|
NM_001458.5(FLNC):c.1274del (p.Glu425fs)
|
|
|
|
NM_001458.5(FLNC):c.1315_1328del (p.Thr439fs)
|
|
|
|
NM_001458.5(FLNC):c.1343_1350del (p.His448fs)
|
|
|
|
NM_001458.5(FLNC):c.1374del (p.Ile459fs)
|
|
|
|
NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter)
|
rs1420159591
|
|
|
NM_001458.5(FLNC):c.1453C>T (p.Gln485Ter)
|
|
|
|
NM_001458.5(FLNC):c.1463del (p.Gly488fs)
|
rs2128934867
|
|
|
NM_001458.5(FLNC):c.146_147insT (p.Leu50fs)
|
rs2128932142
|
|
|
NM_001458.5(FLNC):c.147delinsTCT (p.Lys51fs)
|
rs1562988883
|
|
|
NM_001458.5(FLNC):c.1497del (p.Phe500fs)
|
|
|
|
NM_001458.5(FLNC):c.1503_1504dup (p.Lys502fs)
|
rs2128934883
|
|
|
NM_001458.5(FLNC):c.1503del (p.Lys502fs)
|
|
|
|
NM_001458.5(FLNC):c.1519_1525del (p.Gly507fs)
|
rs1554398092
|
|
|
NM_001458.5(FLNC):c.156dup (p.Val53fs)
|
rs2128932148
|
|
|
NM_001458.5(FLNC):c.1589_1602del (p.Asp530fs)
|
|
|
|
NM_001458.5(FLNC):c.1593_1600del (p.Phe533fs)
|
|
|
|
NM_001458.5(FLNC):c.1605C>A (p.Cys535Ter)
|
rs199976790
|
|
|
NM_001458.5(FLNC):c.1662C>A (p.Tyr554Ter)
|
rs376975967
|
|
|
NM_001458.5(FLNC):c.1670del (p.Pro557fs)
|
rs2128935054
|
|
|
NM_001458.5(FLNC):c.1730G>A (p.Trp577Ter)
|
rs2128935124
|
|
|
NM_001458.5(FLNC):c.1749del (p.Gly584fs)
|
|
|
|
NM_001458.5(FLNC):c.1756del (p.Val586fs)
|
|
|
|
NM_001458.5(FLNC):c.175dup (p.Asp59fs)
|
|
|
|
NM_001458.5(FLNC):c.1806_1809dup (p.Leu604fs)
|
|
|
|
NM_001458.5(FLNC):c.1813+2T>C
|
rs113483303
|
|
|
NM_001458.5(FLNC):c.181C>T (p.Gln61Ter)
|
rs2128932161
|
|
|
NM_001458.5(FLNC):c.1830dup (p.Pro611fs)
|
|
|
|
NM_001458.5(FLNC):c.1837C>T (p.Gln613Ter)
|
|
|
|
NM_001458.5(FLNC):c.1844dup (p.Ile616fs)
|
rs1808318504
|
|
|
NM_001458.5(FLNC):c.1849G>T (p.Glu617Ter)
|
|
|
|
NM_001458.5(FLNC):c.1861_1885dup (p.Arg629fs)
|
rs1585156327
|
|
|
NM_001458.5(FLNC):c.1866_1867del (p.Asp623fs)
|
|
|
|
NM_001458.5(FLNC):c.1880_1887del (p.Asp627fs)
|
|
|
|
NM_001458.5(FLNC):c.1890C>G (p.Tyr630Ter)
|
rs2128935258
|
|
|
NM_001458.5(FLNC):c.1893G>A (p.Trp631Ter)
|
rs1808320936
|
|
|
NM_001458.5(FLNC):c.1914C>G (p.Tyr638Ter)
|
rs757352623
|
|
|
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter)
|
rs770606675
|
|
|
NM_001458.5(FLNC):c.1965_1966del (p.Ala656fs)
|
rs1585156450
|
|
|
NM_001458.5(FLNC):c.1991_1994del (p.Asp664fs)
|
rs2128935287
|
|
|
NM_001458.5(FLNC):c.1994_1995delinsAA (p.Cys665Ter)
|
|
|
|
NM_001458.5(FLNC):c.2048_2049del (p.Ile683fs)
|
rs2128935347
|
|
|
NM_001458.5(FLNC):c.2065G>T (p.Glu689Ter)
|
rs1446694237
|
|
|
NM_001458.5(FLNC):c.2084del (p.Arg695fs)
|
rs1808334682
|
|
|
NM_001458.5(FLNC):c.2114_2115del (p.Tyr705fs)
|
|
|
|
NM_001458.5(FLNC):c.2119C>T (p.Gln707Ter)
|
rs1808336992
|
|
|
NM_001458.5(FLNC):c.2160del (p.Asn721fs)
|
|
|
|
NM_001458.5(FLNC):c.2190_2192del (p.Tyr730_Val731delinsTer)
|
|
|
|
NM_001458.5(FLNC):c.2234del (p.Gly745fs)
|
rs1374893890
|
|
|
NM_001458.5(FLNC):c.2299del (p.Arg766_Val767insTer)
|
rs2128935670
|
|
|
NM_001458.5(FLNC):c.234_235delinsTT (p.Gln79Ter)
|
|
|
|
NM_001458.5(FLNC):c.2385del (p.Gln796fs)
|
|
|
|
NM_001458.5(FLNC):c.2389+1G>T
|
|
|
|
NM_001458.5(FLNC):c.2389+2T>C
|
rs112903432
|
|
|
NM_001458.5(FLNC):c.2390-10_2406del
|
rs1554398674
|
|
|
NM_001458.5(FLNC):c.2405del (p.Gly802fs)
|
|
|
|
NM_001458.5(FLNC):c.2432del (p.Gly811fs)
|
rs776269505
|
|
|
NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter)
|
rs1389742580
|
|
|
NM_001458.5(FLNC):c.2507del (p.Pro836fs)
|
rs1808400111
|
|
|
NM_001458.5(FLNC):c.2508del (p.Ala838fs)
|
rs1808400430
|
|
|
NM_001458.5(FLNC):c.2548C>T (p.Gln850Ter)
|
rs1367760687
|
|
|
NM_001458.5(FLNC):c.2603_2604delinsT (p.Ser868fs)
|
rs1808416556
|
|
|
NM_001458.5(FLNC):c.2604del (p.Ser868fs)
|
rs2128935921
|
|
|
NM_001458.5(FLNC):c.2617G>T (p.Glu873Ter)
|
rs771092335
|
|
|
NM_001458.5(FLNC):c.261del (p.Pro88fs)
|
rs2128932217
|
|
|
NM_001458.5(FLNC):c.273del (p.Phe92fs)
|
|
|
|
NM_001458.5(FLNC):c.2743_2753del (p.Val914_Val915insTer)
|
rs2128936006
|
|
|
NM_001458.5(FLNC):c.2754_2755insC (p.Glu919fs)
|
rs2128936013
|
|
|
NM_001458.5(FLNC):c.2787del (p.Val930fs)
|
|
|
|
NM_001458.5(FLNC):c.2789_2800del (p.Val930_Thr933del)
|
rs1562995872
|
|
|
NM_001458.5(FLNC):c.2804_2807dup (p.Gln936fs)
|
|
|
|
NM_001458.5(FLNC):c.2809C>T (p.Gln937Ter)
|
|
|
|
NM_001458.5(FLNC):c.2816_2823dup (p.Val942fs)
|
rs2128936072
|
|
|
NM_001458.5(FLNC):c.2838T>A (p.Tyr946Ter)
|
rs769390195
|
|
|
NM_001458.5(FLNC):c.2846del (p.Asp949fs)
|
rs2128936089
|
|
|
NM_001458.5(FLNC):c.2864_2865del (p.Pro955fs)
|
|
|
|
NM_001458.5(FLNC):c.2872del (p.Val957_Val958insTer)
|
rs1401551498
|
|
|
NM_001458.5(FLNC):c.2905del (p.Ile969fs)
|
rs2128936107
|
|
|
NM_001458.5(FLNC):c.2914C>T (p.Gln972Ter)
|
|
|
|
NM_001458.5(FLNC):c.2918del (p.Gly973fs)
|
|
|
|
NM_001458.5(FLNC):c.2930-1G>A
|
|
|
|
NM_001458.5(FLNC):c.2931_2938dup (p.Val980fs)
|
|
|
|
NM_001458.5(FLNC):c.2950C>T (p.Gln984Ter)
|
rs769865678
|
|
|
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter)
|
rs886037830
|
|
|
NM_001458.5(FLNC):c.2977del (p.Ala993fs)
|
|
|
|
NM_001458.5(FLNC):c.300_301dup (p.Ser101fs)
|
|
|
|
NM_001458.5(FLNC):c.3014C>A (p.Ser1005Ter)
|
|
|
|
NM_001458.5(FLNC):c.3019del (p.Ser1007fs)
|
rs2128936173
|
|
|
NM_001458.5(FLNC):c.302_306delinsTGT (p.Ser101fs)
|
|
|
|
NM_001458.5(FLNC):c.3039C>A (p.Cys1013Ter)
|
rs1554399014
|
|
|
NM_001458.5(FLNC):c.3070C>T (p.Gln1024Ter)
|
rs2128936189
|
|
|
NM_001458.5(FLNC):c.3084C>A (p.Tyr1028Ter)
|
rs761978559
|
|
|
NM_001458.5(FLNC):c.3084del (p.Arg1027_Tyr1028insTer)
|
|
|
|
NM_001458.5(FLNC):c.3092del (p.Pro1031fs)
|
|
|
|
NM_001458.5(FLNC):c.3108C>A (p.Tyr1036Ter)
|
|
|
|
NM_001458.5(FLNC):c.3123_3126del (p.Tyr1042fs)
|
|
|
|
NM_001458.5(FLNC):c.3161_3174del (p.Val1054fs)
|
|
|
|
NM_001458.5(FLNC):c.3179del (p.Pro1060fs)
|
|
|
|
NM_001458.5(FLNC):c.3180del (p.Asp1061fs)
|
rs1064795229
|
|
|
NM_001458.5(FLNC):c.3221dup (p.Gly1075fs)
|
rs2128936346
|
|
|
NM_001458.5(FLNC):c.3307_3313del (p.Cys1103fs)
|
rs2128936386
|
|
|
NM_001458.5(FLNC):c.338del (p.Lys113fs)
|
|
|
|
NM_001458.5(FLNC):c.3415del (p.His1139fs)
|
rs1808489575
|
|
|
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val)
|
rs1114167361
|
|
|
NM_001458.5(FLNC):c.3670_3671dup (p.Ile1226fs)
|
rs1808505973
|
|
|
NM_001458.5(FLNC):c.3679dup (p.Thr1227fs)
|
|
|
|
NM_001458.5(FLNC):c.368T>C (p.Val123Ala)
|
rs1562991002
|
|
|
NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs)
|
rs2128936511
|
|
|
NM_001458.5(FLNC):c.3699del (p.Val1235fs)
|
rs1808508148
|
|
|
NM_001458.5(FLNC):c.3702del (p.Val1235fs)
|
rs2128936516
|
|
|
NM_001458.5(FLNC):c.3711del (p.Lys1237fs)
|
rs2128936518
|
|
|
NM_001458.5(FLNC):c.3733_3737dup (p.Ala1247fs)
|
|
|
|
NM_001458.5(FLNC):c.3854del (p.Gly1285fs)
|
rs1808550611
|
|
|
NM_001458.5(FLNC):c.3855del (p.Asn1286fs)
|
|
|
|
NM_001458.5(FLNC):c.3859_3866del (p.His1287fs)
|
|
|
|
NM_001458.5(FLNC):c.3863_3867dup (p.Ala1290Ter)
|
|
|
|
NM_001458.5(FLNC):c.3901_3904del (p.Asp1301fs)
|
|
|
|
NM_001458.5(FLNC):c.3908dup (p.Tyr1303Ter)
|
|
|
|
NM_001458.5(FLNC):c.3909T>A (p.Tyr1303Ter)
|
|
|
|
NM_001458.5(FLNC):c.3933_3937del (p.Tyr1312fs)
|
rs1808555459
|
|
|
NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs)
|
rs1554399513
|
|
|
NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter)
|
rs766330686
|
|
|
NM_001458.5(FLNC):c.3943C>T (p.Gln1315Ter)
|
|
|
|
NM_001458.5(FLNC):c.3944del (p.Gln1315fs)
|
|
|
|
NM_001458.5(FLNC):c.3949_3950del (p.Thr1317fs)
|
|
|
|
NM_001458.5(FLNC):c.4000_4015del (p.Ala1334fs)
|
|
|
|
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)
|
rs1562998062
|
|
|
NM_001458.5(FLNC):c.404G>A (p.Trp135Ter)
|
|
|
|
NM_001458.5(FLNC):c.4050del (p.Thr1351fs)
|
rs2128936867
|
|
|
NM_001458.5(FLNC):c.4054del (p.Arg1352fs)
|
|
|
|
NM_001458.5(FLNC):c.4059_4060del (p.Arg1354fs)
|
|
|
|
NM_001458.5(FLNC):c.4060C>T (p.Arg1354Ter)
|
rs138193236
|
|
|
NM_001458.5(FLNC):c.4071del (p.Pro1358fs)
|
|
|
|
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter)
|
rs1342121466
|
|
|
NM_001458.5(FLNC):c.4127+1G>T
|
rs1346981294
|
|
|
NM_001458.5(FLNC):c.4127+1del
|
|
|
|
NM_001458.5(FLNC):c.4192A>T (p.Lys1398Ter)
|
|
|
|
NM_001458.5(FLNC):c.420del (p.Tyr141fs)
|
|
|
|
NM_001458.5(FLNC):c.4219_4220delinsA (p.Val1407fs)
|
|
|
|
NM_001458.5(FLNC):c.4275del (p.Arg1426fs)
|
|
|
|
NM_001458.5(FLNC):c.4275dup (p.Arg1426fs)
|
rs756985550
|
|
|
NM_001458.5(FLNC):c.4321del (p.Val1441fs)
|
|
|
|
NM_001458.5(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer)
|
rs1562998858
|
|
|
NM_001458.5(FLNC):c.4363_4375dup (p.Ala1459fs)
|
|
|
|
NM_001458.5(FLNC):c.4432C>T (p.Gln1478Ter)
|
rs2128937285
|
|
|
NM_001458.5(FLNC):c.444G>A (p.Trp148Ter)
|
rs1554397197
|
|
|
NM_001458.5(FLNC):c.4456+1G>A
|
rs1318885805
|
|
|
NM_001458.5(FLNC):c.4458del (p.Val1487fs)
|
|
|
|
NM_001458.5(FLNC):c.4510del (p.His1504fs)
|
|
|
|
NM_001458.5(FLNC):c.4557T>A (p.Tyr1519Ter)
|
rs2128937364
|
|
|
NM_001458.5(FLNC):c.4564C>T (p.Gln1522Ter)
|
|
|
|
NM_001458.5(FLNC):c.4564del (p.Gln1522fs)
|
rs2128937368
|
|
|
NM_001458.5(FLNC):c.4615G>A (p.Ala1539Thr)
|
rs1562999443
|
|
|
NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter)
|
rs1562999451
|
|
|
NM_001458.5(FLNC):c.4682del (p.Glu1561fs)
|
rs2128937556
|
|
|
NM_001458.5(FLNC):c.4716del (p.Leu1573fs)
|
rs1554400021
|
|
|
NM_001458.5(FLNC):c.4718T>A (p.Leu1573Ter)
|
rs2128937575
|
|
|
NM_001458.5(FLNC):c.4729C>T (p.Gln1577Ter)
|
rs1585163755
|
|
|
NM_001458.5(FLNC):c.4755del (p.Lys1586fs)
|
rs2128937622
|
|
|
NM_001458.5(FLNC):c.4794C>A (p.Tyr1598Ter)
|
rs1808681247
|
|
|
NM_001458.5(FLNC):c.4845del (p.Lys1615fs)
|
|
|
|
NM_001458.5(FLNC):c.486dup (p.Gln163fs)
|
rs2128933653
|
|
|
NM_001458.5(FLNC):c.4875del (p.Phe1626fs)
|
|
|
|
NM_001458.5(FLNC):c.488_491dup (p.Leu165fs)
|
|
|
|
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs)
|
rs1402879259
|
|
|
NM_001458.5(FLNC):c.4927+1del
|
|
|
|
NM_001458.5(FLNC):c.4946del (p.Gly1649fs)
|
rs1282619643
|
|
|
NM_001458.5(FLNC):c.4959C>A (p.Cys1653Ter)
|
|
|
|
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter)
|
rs1563000044
|
|
|
NM_001458.5(FLNC):c.4984C>T (p.Gln1662Ter)
|
rs1808708673
|
|
|
NM_001458.5(FLNC):c.5142C>A (p.Tyr1714Ter)
|
|
|
|
NM_001458.5(FLNC):c.5165del (p.Gly1722fs)
|
rs1554400242
|
|
|
NM_001458.5(FLNC):c.5187del (p.Phe1730fs)
|
|
|
|
NM_001458.5(FLNC):c.531del (p.Ile178fs)
|
rs2128933676
|
|
|
NM_001458.5(FLNC):c.5335G>T (p.Glu1779Ter)
|
rs1808758208
|
|
|
NM_001458.5(FLNC):c.5360del (p.Leu1787fs)
|
|
|
|
NM_001458.5(FLNC):c.5385dup (p.Gly1796fs)
|
rs2128938102
|
|
|
NM_001458.5(FLNC):c.5389dup (p.Glu1797fs)
|
rs2128938104
|
|
|
NM_001458.5(FLNC):c.5417C>A (p.Ser1806Ter)
|
|
|
|
NM_001458.5(FLNC):c.5469_5482del (p.Val1824fs)
|
rs1808778979
|
|
|
NM_001458.5(FLNC):c.5478T>G (p.Tyr1826Ter)
|
rs371167779
|
|
|
NM_001458.5(FLNC):c.5503C>T (p.Gln1835Ter)
|
|
|
|
NM_001458.5(FLNC):c.5520T>A (p.Tyr1840Ter)
|
rs1808781579
|
|
|
NM_001458.5(FLNC):c.554G>A (p.Trp185Ter)
|
rs1585151331
|
|
|
NM_001458.5(FLNC):c.5557del (p.Tyr1853fs)
|
rs2128938355
|
|
|
NM_001458.5(FLNC):c.5559T>G (p.Tyr1853Ter)
|
|
|
|
NM_001458.5(FLNC):c.555G>A (p.Trp185Ter)
|
rs2128933685
|
|
|
NM_001458.5(FLNC):c.5569_5578del (p.Ile1857fs)
|
rs2128938360
|
|
|
NM_001458.5(FLNC):c.5613_5635del (p.Gly1872fs)
|
rs2128938382
|
|
|
NM_001458.5(FLNC):c.563del (p.Gly188fs)
|
rs2128933688
|
|
|
NM_001458.5(FLNC):c.5653A>T (p.Lys1885Ter)
|
rs1563001456
|
|
|
NM_001458.5(FLNC):c.5665del (p.Glu1889fs)
|
rs2128938391
|
|
|
NM_001458.5(FLNC):c.5669-1del
|
rs1563001548
|
|
|
NM_001458.5(FLNC):c.5675_5678del (p.Leu1892fs)
|
rs1585166614
|
|
|
NM_001458.5(FLNC):c.5676dup (p.Ser1893fs)
|
|
|
|
NM_001458.5(FLNC):c.5685del (p.Val1896fs)
|
rs1808809268
|
|
|
NM_001458.5(FLNC):c.5697dup (p.Ser1900fs)
|
rs1554400700
|
|
|
NM_001458.5(FLNC):c.5704del (p.Ala1902fs)
|
rs1554400703
|
|
|
NM_001458.5(FLNC):c.5733dup (p.Gly1912fs)
|
rs2128938455
|
|
|
NM_001458.5(FLNC):c.5754T>A (p.Tyr1918Ter)
|
rs764539989
|
|
|
NM_001458.5(FLNC):c.5763del (p.Ala1922fs)
|
|
|
|
NM_001458.5(FLNC):c.5778C>G (p.Tyr1926Ter)
|
|
|
|
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)
|
rs387906587
|
|
|
NM_001458.5(FLNC):c.5789_5790del (p.Val1930fs)
|
|
|
|
NM_001458.5(FLNC):c.581_600del (p.Leu194fs)
|
|
|
|
NM_001458.5(FLNC):c.5845_5848dup (p.Asp1950delinsGlyTer)
|
|
|
|
NM_001458.5(FLNC):c.5866C>T (p.Gln1956Ter)
|
rs2128938768
|
|
|
NM_001458.5(FLNC):c.5889_5896dup (p.Ser1966fs)
|
|
|
|
NM_001458.5(FLNC):c.5904dup (p.Ile1969fs)
|
rs1585167678
|
|
|
NM_001458.5(FLNC):c.5920_5921del (p.Leu1974fs)
|
|
|
|
NM_001458.5(FLNC):c.5926C>T (p.Gln1976Ter)
|
|
|
|
NM_001458.5(FLNC):c.592_593del (p.Cys198fs)
|
rs2128933700
|
|
|
NM_001458.5(FLNC):c.5983del (p.Arg1995fs)
|
rs1808872966
|
|
|
NM_001458.5(FLNC):c.6009del (p.Ser2004fs)
|
|
|
|
NM_001458.5(FLNC):c.600dup (p.Gly201fs)
|
|
|
|
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg)
|
rs1554400962
|
|
|
NM_001458.5(FLNC):c.6053_6054dup (p.Lys2019fs)
|
rs2128938886
|
|
|
NM_001458.5(FLNC):c.6054dup (p.Lys2019fs)
|
|
|
|
NM_001458.5(FLNC):c.6071del (p.Val2024fs)
|
rs2128938894
|
|
|
NM_001458.5(FLNC):c.609C>A (p.Cys203Ter)
|
rs1455396332
|
|
|
NM_001458.5(FLNC):c.6160G>T (p.Gly2054Ter)
|
|
|
|
NM_001458.5(FLNC):c.6190dup (p.Val2064fs)
|
rs1808888920
|
|
|
NM_001458.5(FLNC):c.6240_6259del (p.Pro2081fs)
|
rs2128939085
|
|
|
NM_001458.5(FLNC):c.6242dup (p.Ser2082fs)
|
rs1585168573
|
|
|
NM_001458.5(FLNC):c.6279del (p.Asp2093fs)
|
|
|
|
NM_001458.5(FLNC):c.627G>A (p.Trp209Ter)
|
|
|
|
NM_001458.5(FLNC):c.6339del (p.Lys2113fs)
|
|
|
|
NM_001458.5(FLNC):c.6345_6352del (p.Asp2116fs)
|
rs1808918080
|
|
|
NM_001458.5(FLNC):c.6447del (p.Ile2150fs)
|
rs1563003153
|
|
|
NM_001458.5(FLNC):c.6478A>T (p.Ile2160Phe)
|
rs879255640
|
|
|
NM_001458.5(FLNC):c.6491G>A (p.Trp2164Ter)
|
rs2128939246
|
|
|
NM_001458.5(FLNC):c.6496C>T (p.Gln2166Ter)
|
|
|
|
NM_001458.5(FLNC):c.6561_6564del (p.Thr2188fs)
|
|
|
|
NM_001458.5(FLNC):c.6565G>T (p.Glu2189Ter)
|
|
|
|
NM_001458.5(FLNC):c.658del (p.Glu220fs)
|
rs2128934070
|
|
|
NM_001458.5(FLNC):c.6634C>T (p.Gln2212Ter)
|
rs2128939316
|
|
|
NM_001458.5(FLNC):c.664A>G (p.Met222Val)
|
rs2128934074
|
|
|
NM_001458.5(FLNC):c.665T>C (p.Met222Thr)
|
|
|
|
NM_001458.5(FLNC):c.6663_6664del (p.Phe2222fs)
|
rs2128939337
|
|
|
NM_001458.5(FLNC):c.670C>T (p.Gln224Ter)
|
|
|
|
NM_001458.5(FLNC):c.671del (p.Gln224fs)
|
rs2128934076
|
|
|
NM_001458.5(FLNC):c.6721C>T (p.Gln2241Ter)
|
rs2128939369
|
|
|
NM_001458.5(FLNC):c.6727+21_7065del
|
|
|
|
NM_001458.5(FLNC):c.6749_6758del (p.Met2250fs)
|
|
|
|
NM_001458.5(FLNC):c.6753_6754dup (p.Ala2252fs)
|
|
|
|
NM_001458.5(FLNC):c.6753dup (p.Ala2252fs)
|
rs1808965674
|
|
|
NM_001458.5(FLNC):c.6770dup (p.Ser2258fs)
|
|
|
|
NM_001458.5(FLNC):c.6802G>T (p.Glu2268Ter)
|
rs1156444972
|
|
|
NM_001458.5(FLNC):c.6812del (p.Asp2271fs)
|
|
|
|
NM_001458.5(FLNC):c.6835_6838del (p.Val2279fs)
|
|
|
|
NM_001458.5(FLNC):c.6841dup (p.Gln2281fs)
|
rs2128939496
|
|
|
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs)
|
rs2128939508
|
|
|
NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter)
|
rs1585169831
|
|
|
NM_001458.5(FLNC):c.6890dup (p.Pro2298fs)
|
|
|
|
NM_001458.5(FLNC):c.6893C>T (p.Pro2298Leu)
|
rs1382734231
|
|
|
NM_001458.5(FLNC):c.6907C>T (p.Gln2303Ter)
|
|
|
|
NM_001458.5(FLNC):c.6943C>A (p.His2315Asn)
|
rs1563003848
|
|
|
NM_001458.5(FLNC):c.6955del (p.Ala2319fs)
|
rs2128939548
|
|
|
NM_001458.5(FLNC):c.6957del (p.Gly2320fs)
|
|
|
|
NM_001458.5(FLNC):c.6976C>T (p.Arg2326Ter)
|
rs748416758
|
|
|
NM_001458.5(FLNC):c.697C>T (p.Gln233Ter)
|
rs1554397464
|
|
|
NM_001458.5(FLNC):c.6982G>A (p.Val2328Met)
|
rs2128939561
|
|
|
NM_001458.5(FLNC):c.6998_6999insATCT (p.Glu2334fs)
|
|
|
|
NM_001458.5(FLNC):c.7000G>T (p.Glu2334Ter)
|
|
|
|
NM_001458.5(FLNC):c.7014G>A (p.Trp2338Ter)
|
rs2128939606
|
|
|
NM_001458.5(FLNC):c.711del (p.Glu238fs)
|
|
|
|
NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs)
|
|
|
|
NM_001458.5(FLNC):c.7251+1G>A
|
rs1554401581
|
|
|
NM_001458.5(FLNC):c.7251+1G>T
|
rs1554401581
|
|
|
NM_001458.5(FLNC):c.7261del (p.Leu2421fs)
|
rs2128940107
|
|
|
NM_001458.5(FLNC):c.7273_7274insTTCAC (p.Gln2425fs)
|
|
|
|
NM_001458.5(FLNC):c.7294C>T (p.Gln2432Ter)
|
rs1554401756
|
|
|
NM_001458.5(FLNC):c.7309dup (p.Arg2437fs)
|
rs2128940130
|
|
|
NM_001458.5(FLNC):c.7316_7317del (p.Val2439fs)
|
|
|
|
NM_001458.5(FLNC):c.7327del (p.Arg2443fs)
|
|
|
|
NM_001458.5(FLNC):c.7338_7339del (p.Pro2447fs)
|
rs1585171628
|
|
|
NM_001458.5(FLNC):c.733G>A (p.Val245Met)
|
|
|
|
NM_001458.5(FLNC):c.7341del (p.Ser2448fs)
|
|
|
|
NM_001458.5(FLNC):c.7365C>A (p.Tyr2455Ter)
|
rs540386120
|
|
|
NM_001458.5(FLNC):c.7371del (p.Glu2458fs)
|
rs1554401780
|
|
|
NM_001458.5(FLNC):c.7374del (p.Glu2458fs)
|
|
|
|
NM_001458.5(FLNC):c.7414G>T (p.Glu2472Ter)
|
rs948675422
|
|
|
NM_001458.5(FLNC):c.7467_7474del (p.Ser2490fs)
|
rs2128940244
|
|
|
NM_001458.5(FLNC):c.7495C>T (p.Gln2499Ter)
|
|
|
|
NM_001458.5(FLNC):c.7496_7497insTGCT (p.Gln2499fs)
|
rs1554401830
|
|
|
NM_001458.5(FLNC):c.7510del (p.Asp2504fs)
|
rs2128940259
|
|
|
NM_001458.5(FLNC):c.7526_7527delinsAG (p.Ser2509Ter)
|
rs1809085817
|
|
|
NM_001458.5(FLNC):c.752T>C (p.Met251Thr)
|
rs387906586
|
|
|
NM_001458.5(FLNC):c.7536_7548del (p.Pro2513fs)
|
rs1554401837
|
|
|
NM_001458.5(FLNC):c.7551_7552del (p.Gly2518fs)
|
|
|
|
NM_001458.5(FLNC):c.7562-15_7637delinsGAGG
|
rs1563005360
|
|
|
NM_001458.5(FLNC):c.7562-1_7612dup
|
|
|
|
NM_001458.5(FLNC):c.7571del (p.Ser2523_Ser2524insTer)
|
rs1809097778
|
|
|
NM_001458.5(FLNC):c.7660del (p.Glu2554fs)
|
rs1809103569
|
|
|
NM_001458.5(FLNC):c.7688A>G (p.Tyr2563Cys)
|
rs1563005534
|
|
|
NM_001458.5(FLNC):c.774del (p.Lys259fs)
|
rs1554397506
|
|
|
NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs)
|
rs2128940399
|
|
|
NM_001458.5(FLNC):c.7757_7758delinsA (p.Ser2586fs)
|
rs1809109008
|
|
|
NM_001458.5(FLNC):c.778del (p.Ala260fs)
|
|
|
|
NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs)
|
rs1554402003
|
|
|
NM_001458.5(FLNC):c.7929del (p.Leu2645fs)
|
rs1554402015
|
|
|
NM_001458.5(FLNC):c.794del (p.Gly265fs)
|
rs2128934191
|
|
|
NM_001458.5(FLNC):c.7980C>A (p.Cys2660Ter)
|
rs2128940614
|
|
|
NM_001458.5(FLNC):c.801del (p.Val268fs)
|
rs2128934193
|
|
|
NM_001458.5(FLNC):c.8028del (p.Thr2677fs)
|
|
|
|
NM_001458.5(FLNC):c.804del (p.Arg269fs)
|
|
|
|
NM_001458.5(FLNC):c.8051del (p.Val2684fs)
|
rs1809161384
|
|
|
NM_001458.5(FLNC):c.805C>T (p.Arg269Ter)
|
rs755583250
|
|
|
NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter)
|
rs1563006133
|
|
|
NM_001458.5(FLNC):c.8094_8095insT (p.Lys2699Ter)
|
rs2128940685
|
|
|
NM_001458.5(FLNC):c.8103_8104del (p.Asp2703fs)
|
|
|
|
NM_001458.5(FLNC):c.8107del (p.Asp2703fs)
|
rs1563006160
|
|
|
NM_001458.5(FLNC):c.8110_8111insC (p.Tyr2704fs)
|
|
|
|
NM_001458.5(FLNC):c.8129G>A (p.Trp2710Ter)
|
rs1585173340
|
|
|
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter)
|
rs121909518
|
|
|
NM_001458.5(FLNC):c.901C>T (p.Gln301Ter)
|
|
|
|
NM_001458.5(FLNC):c.964G>T (p.Glu322Ter)
|
rs1417082178
|
|
|
NM_001458.5(FLNC):c.985_986dup (p.Asn329fs)
|
|
|