|
NC_000002.11:g.(?_219135239)_(220290732_?)del
|
|
|
NC_000002.12:g.(?_219418453)_(219426000_?)del
|
|
|
NC_000002.12:g.(?_219420241)_(219426000_?)dup
|
|
|
NC_000002.12:g.(?_219420485)_(219426000_?)dup
|
|
|
NC_000002.12:g.(?_70212709)_(70248440_?)del
|
|
|
NC_000007.13:g.(?_128469483)_(128500328_?)del
|
|
|
NC_000007.13:g.(?_128470672)_(128498597_?)dup
|
|
|
NC_000007.13:g.(?_128470682)_(128498587_?)del
|
|
|
NC_000007.13:g.(?_128475370)_(128478867_?)del
|
|
|
NC_000007.13:g.(?_128498042)_(128498597_?)dup
|
|
|
NC_000007.13:g.(?_128498052)_(128498587_?)dup
|
|
|
NC_000007.14:g.(?_128830618)_(128858543_?)del
|
|
|
NC_000007.14:g.(?_128830628)_(128858533_?)dup
|
|
|
NC_000007.14:g.(?_128835316)_(128858533_?)dup
|
|
|
NC_000007.14:g.(?_128842221)_(128850084_?)del
|
|
|
NC_000007.14:g.(?_128848551)_(128848992_?)del
|
|
|
NC_000007.14:g.(?_128852581)_(128858533_?)del
|
|
|
NC_000007.14:g.(?_128858326)_(128858533_?)del
|
|
|
NC_000010.10:g.(?_88428443)_(88428547_?)dup
|
|
|
NC_000010.10:g.88469652-?_88492743+?dup
|
|
|
NC_000010.11:g.(?_86668564)_(86700053_?)del
|
|
|
NC_000010.11:g.(?_86668672)_(86710070_?)del
|
|
|
NM_001127487.2(FLNC):c.147delinsTCT (p.Lys51fs)
|
rs1562988883
|
|
NM_001127487.2(FLNC):c.5200-323G>A
|
rs779856224
|
|
NM_001127487.2(FLNC):c.5200-324C>T
|
rs201926772
|
|
NM_001127487.2(FLNC):c.5200-327G>A
|
rs376023896
|
|
NM_001127487.2(FLNC):c.5200-328C>T
|
|
|
NM_001127487.2(FLNC):c.5200-330G>A
|
rs150986092
|
|
NM_001127487.2(FLNC):c.5200-331C>A
|
rs763698034
|
|
NM_001127487.2(FLNC):c.5200-335G>A
|
|
|
NM_001127487.2(FLNC):c.5200-336C>T
|
rs369187211
|
|
NM_001127487.2(FLNC):c.5200-369G>A
|
rs764373507
|
|
NM_001127487.2(FLNC):c.5200-387G>A
|
rs200792813
|
|
NM_001127487.2(FLNC):c.5200-388C>T
|
rs369739871
|
|
NM_001127487.2(FLNC):c.5200-396C>T
|
rs1308173261
|
|
NM_001135940.2(MYOT):c.-181del
|
rs781353247
|
|
NM_001135940.2(MYOT):c.-194A>G
|
rs141710153
|
|
NM_001135940.2(MYOT):c.-197+175T>C
|
rs202005786
|
|
NM_001135940.2(MYOT):c.-197+193C>T
|
rs751876756
|
|
NM_001135940.2(MYOT):c.-197+305C>T
|
rs121908458
|
|
NM_001135940.2(MYOT):c.-197+381T>C
|
rs368052792
|
|
NM_001458.4(FLNC):c.1000C>T (p.Arg334Cys)
|
rs372497581
|
|
NM_001458.4(FLNC):c.1001G>A (p.Arg334His)
|
rs779347920
|
|
NM_001458.4(FLNC):c.1026C>T (p.Pro342=)
|
rs200633995
|
|
NM_001458.4(FLNC):c.1027A>G (p.Lys343Glu)
|
rs745495679
|
|
NM_001458.4(FLNC):c.1027A>T (p.Lys343Ter)
|
|
|
NM_001458.4(FLNC):c.1032C>T (p.Val344=)
|
rs2291562
|
|
NM_001458.4(FLNC):c.1040T>C (p.Leu347Ser)
|
rs1554397631
|
|
NM_001458.4(FLNC):c.1053C>T (p.Thr351=)
|
rs375071103
|
|
NM_001458.4(FLNC):c.1054G>A (p.Val352Met)
|
rs773023988
|
|
NM_001458.4(FLNC):c.1073A>G (p.Asn358Ser)
|
|
|
NM_001458.4(FLNC):c.1081C>T (p.Arg361Cys)
|
rs200206944
|
|
NM_001458.4(FLNC):c.1082G>A (p.Arg361His)
|
rs752888774
|
|
NM_001458.4(FLNC):c.1094A>G (p.Glu365Gly)
|
rs752027721
|
|
NM_001458.4(FLNC):c.1102G>A (p.Val368Met)
|
rs781718076
|
|
NM_001458.4(FLNC):c.1106G>C (p.Gly369Ala)
|
rs754733061
|
|
NM_001458.4(FLNC):c.1108A>G (p.Met370Val)
|
rs370406338
|
|
NM_001458.4(FLNC):c.1128C>A (p.Asn376Lys)
|
rs773165378
|
|
NM_001458.4(FLNC):c.1142G>A (p.Arg381His)
|
rs776469396
|
|
NM_001458.4(FLNC):c.1166G>A (p.Gly389Asp)
|
rs763039506
|
|
NM_001458.4(FLNC):c.1168A>C (p.Asn390His)
|
rs922960289
|
|
NM_001458.4(FLNC):c.1169A>G (p.Asn390Ser)
|
rs188905854
|
|
NM_001458.4(FLNC):c.1171G>A (p.Val391Met)
|
rs757887021
|
|
NM_001458.4(FLNC):c.1176C>T (p.Ala392=)
|
rs767977714
|
|
NM_001458.4(FLNC):c.1186A>G (p.Thr396Ala)
|
rs1437029966
|
|
NM_001458.4(FLNC):c.1188C>A (p.Thr396=)
|
rs1585153728
|
|
NM_001458.4(FLNC):c.1197C>T (p.Asp399=)
|
rs756546984
|
|
NM_001458.4(FLNC):c.1205C>T (p.Thr402Ile)
|
|
|
NM_001458.4(FLNC):c.1206T>A (p.Thr402=)
|
rs757898362
|
|
NM_001458.4(FLNC):c.1210+10G>T
|
rs562941732
|
|
NM_001458.4(FLNC):c.1210+7C>T
|
rs776554557
|
|
NM_001458.4(FLNC):c.1210+8G>A
|
rs368892134
|
|
NM_001458.4(FLNC):c.1211-5G>A
|
|
|
NM_001458.4(FLNC):c.1211-6C>T
|
rs745834917
|
|
NM_001458.4(FLNC):c.1215C>T (p.Ala405=)
|
rs749510534
|
|
NM_001458.4(FLNC):c.1216G>A (p.Gly406Ser)
|
rs1343684536
|
|
NM_001458.4(FLNC):c.1225G>A (p.Asp409Asn)
|
rs371913931
|
|
NM_001458.4(FLNC):c.1227T>C (p.Asp409=)
|
rs375033262
|
|
NM_001458.4(FLNC):c.1228G>C (p.Val410Leu)
|
rs993836469
|
|
NM_001458.4(FLNC):c.1242C>T (p.Ile414=)
|
rs761922411
|
|
NM_001458.4(FLNC):c.1243G>A (p.Val415Met)
|
rs369182765
|
|
NM_001458.4(FLNC):c.1258C>T (p.Arg420Trp)
|
|
|
NM_001458.4(FLNC):c.1259G>A (p.Arg420Gln)
|
rs371410741
|
|
NM_001458.4(FLNC):c.125T>C (p.Phe42Ser)
|
rs777706683
|
|
NM_001458.4(FLNC):c.125T>G (p.Phe42Cys)
|
rs777706683
|
|
NM_001458.4(FLNC):c.1260G>A (p.Arg420=)
|
rs759951101
|
|
NM_001458.4(FLNC):c.1261C>T (p.Arg421Trp)
|
rs759075520
|
|
NM_001458.4(FLNC):c.1262G>A (p.Arg421Gln)
|
|
|
NM_001458.4(FLNC):c.127A>C (p.Thr43Pro)
|
|
|
NM_001458.4(FLNC):c.1281C>T (p.Ala427=)
|
rs1055109116
|
|
NM_001458.4(FLNC):c.1282C>G (p.Leu428Val)
|
rs1585154042
|
|
NM_001458.4(FLNC):c.1295G>T (p.Gly432Val)
|
rs750350780
|
|
NM_001458.4(FLNC):c.1304C>T (p.Thr435Met)
|
rs199935488
|
|
NM_001458.4(FLNC):c.1305G>A (p.Thr435=)
|
rs779890960
|
|
NM_001458.4(FLNC):c.1309C>G (p.Arg437Gly)
|
rs374847180
|
|
NM_001458.4(FLNC):c.1309C>T (p.Arg437Cys)
|
rs374847180
|
|
NM_001458.4(FLNC):c.1310G>A (p.Arg437His)
|
|
|
NM_001458.4(FLNC):c.1310G>T (p.Arg437Leu)
|
rs370138936
|
|
NM_001458.4(FLNC):c.131G>T (p.Arg44Leu)
|
|
|
NM_001458.4(FLNC):c.1328C>T (p.Ala443Val)
|
|
|
NM_001458.4(FLNC):c.1347C>T (p.Thr449=)
|
rs776162830
|
|
NM_001458.4(FLNC):c.1348G>A (p.Val450Met)
|
rs747550431
|
|
NM_001458.4(FLNC):c.1354G>A (p.Val452Met)
|
rs192163925
|
|
NM_001458.4(FLNC):c.1364C>T (p.Ala455Val)
|
rs777210524
|
|
NM_001458.4(FLNC):c.1372C>T (p.Pro458Ser)
|
rs369747694
|
|
NM_001458.4(FLNC):c.1373C>G (p.Pro458Arg)
|
|
|
NM_001458.4(FLNC):c.1374C>T (p.Pro458=)
|
rs115140972
|
|
NM_001458.4(FLNC):c.1382G>T (p.Arg461Leu)
|
|
|
NM_001458.4(FLNC):c.1392C>T (p.Phe464=)
|
rs910678755
|
|
NM_001458.4(FLNC):c.1398C>T (p.Val466=)
|
rs942095368
|
|
NM_001458.4(FLNC):c.140A>G (p.Asn47Ser)
|
rs770861991
|
|
NM_001458.4(FLNC):c.1412-10C>T
|
rs371509764
|
|
NM_001458.4(FLNC):c.1412-5C>T
|
rs765122668
|
|
NM_001458.4(FLNC):c.1412-6C>T
|
rs753700851
|
|
NM_001458.4(FLNC):c.141T>C (p.Asn47=)
|
rs1331955110
|
|
NM_001458.4(FLNC):c.1420C>T (p.Pro474Ser)
|
rs1562993431
|
|
NM_001458.4(FLNC):c.1425C>T (p.Asn475=)
|
rs143610360
|
|
NM_001458.4(FLNC):c.1426G>T (p.Ala476Ser)
|
rs746359389
|
|
NM_001458.4(FLNC):c.1428C>T (p.Ala476=)
|
rs1585155086
|
|
NM_001458.4(FLNC):c.142_162dup (p.Glu48_Gly54dup)
|
|
|
NM_001458.4(FLNC):c.1430G>C (p.Cys477Ser)
|
rs560530105
|
|
NM_001458.4(FLNC):c.1433G>A (p.Arg478His)
|
rs749593461
|
|
NM_001458.4(FLNC):c.1434C>T (p.Arg478=)
|
rs201810745
|
|
NM_001458.4(FLNC):c.1435G>A (p.Ala479Thr)
|
rs772697482
|
|
NM_001458.4(FLNC):c.1444C>T (p.Arg482Ter)
|
rs1420159591
|
|
NM_001458.4(FLNC):c.1445G>A (p.Arg482Gln)
|
rs770337434
|
|
NM_001458.4(FLNC):c.1448G>A (p.Gly483Asp)
|
rs1562993476
|
|
NM_001458.4(FLNC):c.1454A>G (p.Gln485Arg)
|
rs1012536919
|
|
NM_001458.4(FLNC):c.1458C>A (p.Pro486=)
|
rs2291563
|
|
NM_001458.4(FLNC):c.1469G>A (p.Arg490His)
|
rs1046320257
|
|
NM_001458.4(FLNC):c.1469G>T (p.Arg490Leu)
|
|
|
NM_001458.4(FLNC):c.1470C>A (p.Arg490=)
|
rs765212618
|
|
NM_001458.4(FLNC):c.1471G>A (p.Val491Met)
|
rs770264114
|
|
NM_001458.4(FLNC):c.1471G>C (p.Val491Leu)
|
rs770264114
|
|
NM_001458.4(FLNC):c.1474A>G (p.Lys492Glu)
|
rs118056738
|
|
NM_001458.4(FLNC):c.147C>T (p.His49=)
|
rs3734972
|
|
NM_001458.4(FLNC):c.1491C>T (p.Phe497=)
|
rs1199428558
|
|
NM_001458.4(FLNC):c.1492A>G (p.Lys498Glu)
|
rs781127889
|
|
NM_001458.4(FLNC):c.1505A>T (p.Lys502Met)
|
rs780486915
|
|
NM_001458.4(FLNC):c.1510G>A (p.Ala504Thr)
|
rs1562993551
|
|
NM_001458.4(FLNC):c.1513G>A (p.Gly505Ser)
|
rs200935123
|
|
NM_001458.4(FLNC):c.1517G>A (p.Ser506Asn)
|
rs1554398094
|
|
NM_001458.4(FLNC):c.1518C>T (p.Ser506=)
|
rs368101036
|
|
NM_001458.4(FLNC):c.1519G>A (p.Gly507Arg)
|
rs189525930
|
|
NM_001458.4(FLNC):c.1519_1525del (p.Gly507fs)
|
rs1554398092
|
|
NM_001458.4(FLNC):c.1528A>C (p.Lys510Gln)
|
rs955475416
|
|
NM_001458.4(FLNC):c.1535C>A (p.Thr512Lys)
|
rs775538827
|
|
NM_001458.4(FLNC):c.1535C>T (p.Thr512Met)
|
rs775538827
|
|
NM_001458.4(FLNC):c.1541A>C (p.Lys514Thr)
|
rs375881193
|
|
NM_001458.4(FLNC):c.1548_1549+2del
|
rs763330423
|
|
NM_001458.4(FLNC):c.1549+2T>G
|
rs111806457
|
|
NM_001458.4(FLNC):c.1564C>G (p.Pro522Ala)
|
|
|
NM_001458.4(FLNC):c.1568T>C (p.Val523Ala)
|
rs182845462
|
|
NM_001458.4(FLNC):c.1576C>T (p.Arg526Trp)
|
rs758758113
|
|
NM_001458.4(FLNC):c.1577G>A (p.Arg526Gln)
|
rs34932223
|
|
NM_001458.4(FLNC):c.1584T>C (p.Ala528=)
|
rs1585155668
|
|
NM_001458.4(FLNC):c.1589A>T (p.Asp530Val)
|
rs1371853934
|
|
NM_001458.4(FLNC):c.1599C>A (p.Phe533Leu)
|
rs768072902
|
|
NM_001458.4(FLNC):c.15C>A (p.Ser5Arg)
|
rs759632330
|
|
NM_001458.4(FLNC):c.1600G>A (p.Glu534Lys)
|
rs201905890
|
|
NM_001458.4(FLNC):c.1605C>A (p.Cys535Ter)
|
rs199976790
|
|
NM_001458.4(FLNC):c.1605C>T (p.Cys535=)
|
rs199976790
|
|
NM_001458.4(FLNC):c.1606G>A (p.Glu536Lys)
|
rs141616435
|
|
NM_001458.4(FLNC):c.1614C>T (p.Tyr538=)
|
rs76046880
|
|
NM_001458.4(FLNC):c.1616C>T (p.Pro539Leu)
|
rs375570393
|
|
NM_001458.4(FLNC):c.1617G>A (p.Pro539=)
|
rs369222964
|
|
NM_001458.4(FLNC):c.1632G>A (p.Lys544=)
|
rs566538377
|
|
NM_001458.4(FLNC):c.1645A>G (p.Ile549Val)
|
rs547997371
|
|
NM_001458.4(FLNC):c.1650G>A (p.Thr550=)
|
rs754474889
|
|
NM_001458.4(FLNC):c.1656C>T (p.Gly552=)
|
rs1585155760
|
|
NM_001458.4(FLNC):c.1657G>A (p.Gly553Ser)
|
rs201572079
|
|
NM_001458.4(FLNC):c.1662C>T (p.Tyr554=)
|
rs376975967
|
|
NM_001458.4(FLNC):c.1673G>A (p.Arg558His)
|
rs776881635
|
|
NM_001458.4(FLNC):c.1673G>T (p.Arg558Leu)
|
|
|
NM_001458.4(FLNC):c.1676+1G>A
|
rs111452612
|
|
NM_001458.4(FLNC):c.1695G>A (p.Val565=)
|
rs982956977
|
|
NM_001458.4(FLNC):c.1698C>T (p.Ser566=)
|
rs112194548
|
|
NM_001458.4(FLNC):c.16G>A (p.Gly6Ser)
|
|
|
NM_001458.4(FLNC):c.16G>C (p.Gly6Arg)
|
rs1284761356
|
|
NM_001458.4(FLNC):c.170T>C (p.Leu57Pro)
|
rs1585147774
|
|
NM_001458.4(FLNC):c.1723C>T (p.Arg575Trp)
|
rs761117952
|
|
NM_001458.4(FLNC):c.1728C>G (p.Ala576=)
|
rs370464621
|
|
NM_001458.4(FLNC):c.174C>A (p.Thr58=)
|
rs763488290
|
|
NM_001458.4(FLNC):c.174C>G (p.Thr58=)
|
rs763488290
|
|
NM_001458.4(FLNC):c.1757T>C (p.Val586Ala)
|
rs374132023
|
|
NM_001458.4(FLNC):c.1766C>T (p.Ser589Leu)
|
rs780098760
|
|
NM_001458.4(FLNC):c.176A>G (p.Asp59Gly)
|
rs1164296903
|
|
NM_001458.4(FLNC):c.1770C>T (p.Ala590=)
|
rs367987438
|
|
NM_001458.4(FLNC):c.1771G>A (p.Asp591Asn)
|
rs768829742
|
|
NM_001458.4(FLNC):c.1797C>T (p.Thr599=)
|
rs773793586
|
|
NM_001458.4(FLNC):c.1802T>C (p.Val601Ala)
|
rs763590899
|
|
NM_001458.4(FLNC):c.1810C>T (p.Leu604=)
|
rs1554398303
|
|
NM_001458.4(FLNC):c.1813+10T>A
|
rs756806116
|
|
NM_001458.4(FLNC):c.1813G>A (p.Gly605Ser)
|
rs1562994122
|
|
NM_001458.4(FLNC):c.1824C>G (p.Ile608Met)
|
rs753007069
|
|
NM_001458.4(FLNC):c.1825G>A (p.Glu609Lys)
|
rs758389160
|
|
NM_001458.4(FLNC):c.1825G>C (p.Glu609Gln)
|
|
|
NM_001458.4(FLNC):c.1833C>T (p.Pro611=)
|
rs771403245
|
|
NM_001458.4(FLNC):c.1844dup (p.Ile616fs)
|
|
|
NM_001458.4(FLNC):c.1848C>G (p.Ile616Met)
|
rs770173704
|
|
NM_001458.4(FLNC):c.1857C>T (p.Asp619=)
|
rs771469976
|
|
NM_001458.4(FLNC):c.1858G>C (p.Asp620His)
|
rs567514134
|
|
NM_001458.4(FLNC):c.185G>A (p.Arg62His)
|
|
|
NM_001458.4(FLNC):c.1861_1885dup (p.Arg629fs)
|
rs1585156327
|
|
NM_001458.4(FLNC):c.1885C>T (p.Arg629Trp)
|
rs759376455
|
|
NM_001458.4(FLNC):c.1886G>A (p.Arg629Gln)
|
rs765173966
|
|
NM_001458.4(FLNC):c.1898C>T (p.Thr633Met)
|
rs1187790496
|
|
NM_001458.4(FLNC):c.1899G>A (p.Thr633=)
|
|
|
NM_001458.4(FLNC):c.1902G>A (p.Glu634=)
|
rs12536635
|
|
NM_001458.4(FLNC):c.1915G>A (p.Ala639Thr)
|
rs1175392094
|
|
NM_001458.4(FLNC):c.1923C>T (p.His641=)
|
rs375361259
|
|
NM_001458.4(FLNC):c.1924G>A (p.Val642Ile)
|
rs369387744
|
|
NM_001458.4(FLNC):c.1934A>C (p.Asp645Ala)
|
rs1554398369
|
|
NM_001458.4(FLNC):c.1935_1937del (p.Asp646del)
|
rs765300084
|
|
NM_001458.4(FLNC):c.1936G>A (p.Asp646Asn)
|
rs372668691
|
|
NM_001458.4(FLNC):c.1945_1953dup (p.Ile649_Asp651dup)
|
rs1554398377
|
|
NM_001458.4(FLNC):c.1948C>G (p.Arg650Gly)
|
rs770606675
|
|
NM_001458.4(FLNC):c.1948C>T (p.Arg650Ter)
|
rs770606675
|
|
NM_001458.4(FLNC):c.1962C>T (p.Phe654=)
|
rs1585156448
|
|
NM_001458.4(FLNC):c.1965_1966del (p.Ala656fs)
|
rs1585156450
|
|
NM_001458.4(FLNC):c.1976T>G (p.Leu659Arg)
|
rs576402053
|
|
NM_001458.4(FLNC):c.1980C>T (p.Pro660=)
|
rs762673516
|
|
NM_001458.4(FLNC):c.19T>G (p.Tyr7Asp)
|
|
|
NM_001458.4(FLNC):c.2008-7C>T
|
rs767576240
|
|
NM_001458.4(FLNC):c.2023C>T (p.Pro675Ser)
|
rs1227192105
|
|
NM_001458.4(FLNC):c.2033A>G (p.Glu678Gly)
|
|
|
NM_001458.4(FLNC):c.2036C>T (p.Pro679Leu)
|
rs975517733
|
|
NM_001458.4(FLNC):c.2040C>T (p.Thr680=)
|
rs368121231
|
|
NM_001458.4(FLNC):c.2041G>A (p.Gly681Ser)
|
|
|
NM_001458.4(FLNC):c.2052G>A (p.Val684=)
|
rs1554398437
|
|
NM_001458.4(FLNC):c.205C>T (p.Arg69Trp)
|
rs758342140
|
|
NM_001458.4(FLNC):c.2061C>T (p.Pro687=)
|
rs545269561
|
|
NM_001458.4(FLNC):c.2062G>T (p.Ala688Ser)
|
rs774194364
|
|
NM_001458.4(FLNC):c.2063C>T (p.Ala688Val)
|
rs772223832
|
|
NM_001458.4(FLNC):c.2064T>G (p.Ala688=)
|
rs773444538
|
|
NM_001458.4(FLNC):c.2065G>T (p.Glu689Ter)
|
rs1446694237
|
|
NM_001458.4(FLNC):c.2068T>C (p.Phe690Leu)
|
rs200943714
|
|
NM_001458.4(FLNC):c.2075T>C (p.Ile692Thr)
|
rs538863259
|
|
NM_001458.4(FLNC):c.2078A>C (p.Asp693Ala)
|
rs34972246
|
|
NM_001458.4(FLNC):c.2084G>C (p.Arg695Pro)
|
|
|
NM_001458.4(FLNC):c.2084G>T (p.Arg695Leu)
|
rs766592492
|
|
NM_001458.4(FLNC):c.2093G>A (p.Gly698Asp)
|
rs1562994518
|
|
NM_001458.4(FLNC):c.2107_2119delinsT (p.Lys703_Gln707delinsTer)
|
rs1585156701
|
|
NM_001458.4(FLNC):c.2112C>G (p.Leu704=)
|
rs758859689
|
|
NM_001458.4(FLNC):c.2119C>T (p.Gln707Ter)
|
|
|
NM_001458.4(FLNC):c.2121+10T>C
|
rs527417498
|
|
NM_001458.4(FLNC):c.2121+4G>A
|
rs372098008
|
|
NM_001458.4(FLNC):c.2122-6C>G
|
|
|
NM_001458.4(FLNC):c.2124C>T (p.Asp708=)
|
rs187481700
|
|
NM_001458.4(FLNC):c.2125G>A (p.Ala709Thr)
|
rs192725607
|
|
NM_001458.4(FLNC):c.2128G>A (p.Asp710Asn)
|
rs370035829
|
|
NM_001458.4(FLNC):c.212T>C (p.Ile71Thr)
|
rs1554396387
|
|
NM_001458.4(FLNC):c.2130C>A (p.Asp710Glu)
|
rs778781499
|
|
NM_001458.4(FLNC):c.2130C>T (p.Asp710=)
|
rs778781499
|
|
NM_001458.4(FLNC):c.2141T>C (p.Ile714Thr)
|
rs1554398541
|
|
NM_001458.4(FLNC):c.2142C>A (p.Ile714=)
|
rs199595235
|
|
NM_001458.4(FLNC):c.2142C>T (p.Ile714=)
|
rs199595235
|
|
NM_001458.4(FLNC):c.2145C>T (p.Asp715=)
|
rs1585157201
|
|
NM_001458.4(FLNC):c.2160C>T (p.Pro720=)
|
rs1389842402
|
|
NM_001458.4(FLNC):c.2163C>A (p.Asn721Lys)
|
rs370539335
|
|
NM_001458.4(FLNC):c.2163C>T (p.Asn721=)
|
rs370539335
|
|
NM_001458.4(FLNC):c.2164G>A (p.Gly722Ser)
|
rs762248114
|
|
NM_001458.4(FLNC):c.2166C>T (p.Gly722=)
|
|
|
NM_001458.4(FLNC):c.2169C>T (p.Asp723=)
|
rs377553322
|
|
NM_001458.4(FLNC):c.216G>A (p.Ala72=)
|
rs757077955
|
|
NM_001458.4(FLNC):c.2171G>A (p.Gly724Asp)
|
rs1554398553
|
|
NM_001458.4(FLNC):c.2180G>A (p.Arg727His)
|
rs200618242
|
|
NM_001458.4(FLNC):c.2194C>T (p.Pro732Ser)
|
rs1562994905
|
|
NM_001458.4(FLNC):c.2199C>G (p.Thr733=)
|
rs200655185
|
|
NM_001458.4(FLNC):c.2201A>G (p.Lys734Arg)
|
rs1585157281
|
|
NM_001458.4(FLNC):c.2217C>T (p.Thr739=)
|
rs1169471172
|
|
NM_001458.4(FLNC):c.2238C>T (p.Gly746=)
|
rs759243298
|
|
NM_001458.4(FLNC):c.2244C>T (p.Asn748=)
|
rs752145129
|
|
NM_001458.4(FLNC):c.2245G>A (p.Val749Met)
|
rs763901270
|
|
NM_001458.4(FLNC):c.2246T>A (p.Val749Glu)
|
rs932445396
|
|
NM_001458.4(FLNC):c.2259C>T (p.Pro753=)
|
rs1585157340
|
|
NM_001458.4(FLNC):c.2265+1G>A
|
rs1585157354
|
|
NM_001458.4(FLNC):c.2265+9T>C
|
rs532692123
|
|
NM_001458.4(FLNC):c.2266-3C>T
|
rs369153392
|
|
NM_001458.4(FLNC):c.2266-5C>T
|
rs371960827
|
|
NM_001458.4(FLNC):c.2272G>A (p.Val758Met)
|
rs371418145
|
|
NM_001458.4(FLNC):c.2277C>T (p.Gly759=)
|
rs534989876
|
|
NM_001458.4(FLNC):c.2278G>A (p.Glu760Lys)
|
rs772574007
|
|
NM_001458.4(FLNC):c.2281G>A (p.Gly761Ser)
|
rs374691339
|
|
NM_001458.4(FLNC):c.2287C>T (p.His763Tyr)
|
rs1380984220
|
|
NM_001458.4(FLNC):c.2292C>T (p.Pro764=)
|
rs369916201
|
|
NM_001458.4(FLNC):c.2293G>A (p.Glu765Lys)
|
rs373798394
|
|
NM_001458.4(FLNC):c.2296C>T (p.Arg766Trp)
|
rs200215340
|
|
NM_001458.4(FLNC):c.2297G>A (p.Arg766Gln)
|
rs369935650
|
|
NM_001458.4(FLNC):c.22T>C (p.Ser8Pro)
|
rs544875797
|
|
NM_001458.4(FLNC):c.2305G>T (p.Val769Leu)
|
rs1046022647
|
|
NM_001458.4(FLNC):c.2307G>A (p.Val769=)
|
rs906089015
|
|
NM_001458.4(FLNC):c.2310C>T (p.Tyr770=)
|
rs374087953
|
|
NM_001458.4(FLNC):c.2316C>T (p.Pro772=)
|
rs377595203
|
|
NM_001458.4(FLNC):c.2317G>A (p.Gly773Arg)
|
rs1322212555
|
|
NM_001458.4(FLNC):c.232A>C (p.Ser78Arg)
|
|
|
NM_001458.4(FLNC):c.2331A>G (p.Thr777=)
|
rs1585157630
|
|
NM_001458.4(FLNC):c.2364G>A (p.Thr788=)
|
rs1020284790
|
|
NM_001458.4(FLNC):c.2375G>T (p.Ser792Ile)
|
|
|
NM_001458.4(FLNC):c.2376C>T (p.Ser792=)
|
rs754097557
|
|
NM_001458.4(FLNC):c.2377G>A (p.Glu793Lys)
|
rs187143486
|
|
NM_001458.4(FLNC):c.2380G>A (p.Ala794Thr)
|
rs1198975298
|
|
NM_001458.4(FLNC):c.2382G>A (p.Ala794=)
|
rs536456072
|
|
NM_001458.4(FLNC):c.2389+2T>C
|
rs112903432
|
|
NM_001458.4(FLNC):c.2389+4C>T
|
rs1057523921
|
|
NM_001458.4(FLNC):c.2390-10_2406del
|
rs1554398674
|
|
NM_001458.4(FLNC):c.2390-8C>G
|
rs146063718
|
|
NM_001458.4(FLNC):c.2390-9T>C
|
rs368068407
|
|
NM_001458.4(FLNC):c.2391C>T (p.Gly797=)
|
rs374768092
|
|
NM_001458.4(FLNC):c.2392G>A (p.Asp798Asn)
|
rs778594252
|
|
NM_001458.4(FLNC):c.2392G>T (p.Asp798Tyr)
|
|
|
NM_001458.4(FLNC):c.2394C>T (p.Asp798=)
|
rs747802743
|
|
NM_001458.4(FLNC):c.2395G>A (p.Val799Met)
|
|
|
NM_001458.4(FLNC):c.2403C>T (p.Ile801=)
|
rs369234137
|
|
NM_001458.4(FLNC):c.2404G>A (p.Gly802Ser)
|
rs371398126
|
|
NM_001458.4(FLNC):c.2415C>T (p.Cys805=)
|
rs376800693
|
|
NM_001458.4(FLNC):c.2419C>T (p.Pro807Ser)
|
rs946201226
|
|
NM_001458.4(FLNC):c.2421A>G (p.Pro807=)
|
rs1585157908
|
|
NM_001458.4(FLNC):c.2450T>C (p.Ile817Thr)
|
rs200653747
|
|
NM_001458.4(FLNC):c.2457C>T (p.Phe819=)
|
rs761900404
|
|
NM_001458.4(FLNC):c.2459A>T (p.Asp820Val)
|
rs886044638
|
|
NM_001458.4(FLNC):c.2466C>T (p.Ile822=)
|
rs1349110023
|
|
NM_001458.4(FLNC):c.246G>A (p.Met82Ile)
|
rs1554396403
|
|
NM_001458.4(FLNC):c.2470A>T (p.Asn824Tyr)
|
rs1562995383
|
|
NM_001458.4(FLNC):c.2490C>T (p.Thr830=)
|
rs777580254
|
|
NM_001458.4(FLNC):c.2491G>A (p.Val831Ile)
|
rs746478952
|
|
NM_001458.4(FLNC):c.2500A>G (p.Thr834Ala)
|
rs781169622
|
|
NM_001458.4(FLNC):c.2501C>T (p.Thr834Met)
|
rs75133741
|
|
NM_001458.4(FLNC):c.2507C>A (p.Pro836Gln)
|
rs199652368
|
|
NM_001458.4(FLNC):c.2507del (p.Pro836fs)
|
|
|
NM_001458.4(FLNC):c.2512G>A (p.Ala838Thr)
|
|
|
NM_001458.4(FLNC):c.2513C>T (p.Ala838Val)
|
rs775085661
|
|
NM_001458.4(FLNC):c.2519G>A (p.Arg840His)
|
|
|
NM_001458.4(FLNC):c.2546A>G (p.Asn849Ser)
|
rs755425307
|
|
NM_001458.4(FLNC):c.2546A>T (p.Asn849Ile)
|
|
|
NM_001458.4(FLNC):c.2550+2T>C
|
rs113972676
|
|
NM_001458.4(FLNC):c.2550G>A (p.Gln850=)
|
rs1585158097
|
|
NM_001458.4(FLNC):c.2560G>A (p.Ala854Thr)
|
rs749855792
|
|
NM_001458.4(FLNC):c.2568C>T (p.Pro856=)
|
rs201611050
|
|
NM_001458.4(FLNC):c.2574C>T (p.His858=)
|
rs779819905
|
|
NM_001458.4(FLNC):c.2587C>G (p.Pro863Ala)
|
rs754750752
|
|
NM_001458.4(FLNC):c.2587C>T (p.Pro863Ser)
|
|
|
NM_001458.4(FLNC):c.2600C>T (p.Ala867Val)
|
|
|
NM_001458.4(FLNC):c.2602A>G (p.Ser868Gly)
|
rs201002262
|
|
NM_001458.4(FLNC):c.2616C>T (p.Ala872=)
|
rs769947935
|
|
NM_001458.4(FLNC):c.2617G>A (p.Glu873Lys)
|
rs771092335
|
|
NM_001458.4(FLNC):c.2622C>T (p.Gly874=)
|
rs777267184
|
|
NM_001458.4(FLNC):c.2624C>G (p.Pro875Arg)
|
rs1418979185
|
|
NM_001458.4(FLNC):c.2635C>T (p.Arg879Cys)
|
rs374983276
|
|
NM_001458.4(FLNC):c.2636G>A (p.Arg879His)
|
rs367997079
|
|
NM_001458.4(FLNC):c.263C>A (p.Pro88Gln)
|
|
|
NM_001458.4(FLNC):c.2642G>T (p.Gly881Val)
|
rs377095070
|
|
NM_001458.4(FLNC):c.2650G>T (p.Val884Phe)
|
rs770379589
|
|
NM_001458.4(FLNC):c.2652C>G (p.Val884=)
|
rs369714355
|
|
NM_001458.4(FLNC):c.2653G>A (p.Gly885Arg)
|
rs769110628
|
|
NM_001458.4(FLNC):c.266G>A (p.Arg89His)
|
rs1554396410
|
|
NM_001458.4(FLNC):c.2672C>T (p.Thr891Met)
|
|
|
NM_001458.4(FLNC):c.2673G>A (p.Thr891=)
|
rs761823234
|
|
NM_001458.4(FLNC):c.267C>T (p.Arg89=)
|
rs768740257
|
|
NM_001458.4(FLNC):c.2686G>A (p.Gly896Arg)
|
rs200215903
|
|
NM_001458.4(FLNC):c.2707G>A (p.Asp903Asn)
|
|
|
NM_001458.4(FLNC):c.2730C>G (p.Ala910=)
|
rs1585158635
|
|
NM_001458.4(FLNC):c.2733G>A (p.Lys911=)
|
rs374135903
|
|
NM_001458.4(FLNC):c.2736C>T (p.Gly912=)
|
rs768894698
|
|
NM_001458.4(FLNC):c.2747G>A (p.Arg916Gln)
|
rs143720860
|
|
NM_001458.4(FLNC):c.2747G>T (p.Arg916Leu)
|
rs143720860
|
|
NM_001458.4(FLNC):c.2767A>C (p.Asn923His)
|
rs1420123492
|
|
NM_001458.4(FLNC):c.2780C>T (p.Ser927Phe)
|
rs1585158690
|
|
NM_001458.4(FLNC):c.2782T>A (p.Tyr928Asn)
|
|
|
NM_001458.4(FLNC):c.2790C>T (p.Val930=)
|
rs199966433
|
|
NM_001458.4(FLNC):c.2796C>T (p.Tyr932=)
|
rs1371836474
|
|
NM_001458.4(FLNC):c.2799C>T (p.Thr933=)
|
rs202186772
|
|
NM_001458.4(FLNC):c.2800G>A (p.Ala934Thr)
|
rs763954095
|
|
NM_001458.4(FLNC):c.2812-4A>T
|
|
|
NM_001458.4(FLNC):c.282A>G (p.Gln94=)
|
rs772401033
|
|
NM_001458.4(FLNC):c.2839G>C (p.Gly947Arg)
|
rs372741923
|
|
NM_001458.4(FLNC):c.2841C>T (p.Gly947=)
|
rs547060988
|
|
NM_001458.4(FLNC):c.2842G>A (p.Gly948Arg)
|
rs768103657
|
|
NM_001458.4(FLNC):c.2845G>C (p.Asp949His)
|
rs761905908
|
|
NM_001458.4(FLNC):c.2845G>T (p.Asp949Tyr)
|
rs761905908
|
|
NM_001458.4(FLNC):c.2851G>T (p.Val951Phe)
|
rs760566825
|
|
NM_001458.4(FLNC):c.2874G>C (p.Val958=)
|
rs754046100
|
|
NM_001458.4(FLNC):c.2889G>A (p.Pro963=)
|
rs191892345
|
|
NM_001458.4(FLNC):c.2890C>A (p.Leu964Met)
|
rs1562996103
|
|
NM_001458.4(FLNC):c.2907C>A (p.Ile969=)
|
rs368059457
|
|
NM_001458.4(FLNC):c.290T>C (p.Leu97Pro)
|
rs1585147935
|
|
NM_001458.4(FLNC):c.2929+10G>T
|
rs747678158
|
|
NM_001458.4(FLNC):c.2929+9G>T
|
rs1585159046
|
|
NM_001458.4(FLNC):c.2930-5C>T
|
rs371599113
|
|
NM_001458.4(FLNC):c.2930-7C>A
|
|
|
NM_001458.4(FLNC):c.2937T>A (p.Ala979=)
|
rs746977392
|
|
NM_001458.4(FLNC):c.2943A>G (p.Gly981=)
|
rs759397444
|
|
NM_001458.4(FLNC):c.294G>A (p.Glu98=)
|
rs201839252
|
|
NM_001458.4(FLNC):c.2953G>A (p.Ala985Thr)
|
rs1179474749
|
|
NM_001458.4(FLNC):c.2967C>A (p.Asn989Lys)
|
|
|
NM_001458.4(FLNC):c.2967C>T (p.Asn989=)
|
rs775727204
|
|
NM_001458.4(FLNC):c.2971C>T (p.Arg991Ter)
|
rs886037830
|
|
NM_001458.4(FLNC):c.2982C>G (p.Gly994=)
|
rs947174901
|
|
NM_001458.4(FLNC):c.2984G>A (p.Gly995Asp)
|
|
|
NM_001458.4(FLNC):c.2994A>G (p.Gln998=)
|
rs558712725
|
|
NM_001458.4(FLNC):c.3000T>C (p.Asp1000=)
|
rs184454068
|
|
NM_001458.4(FLNC):c.3005G>A (p.Arg1002Gln)
|
rs202039743
|
|
NM_001458.4(FLNC):c.3006G>A (p.Arg1002=)
|
rs61737781
|
|
NM_001458.4(FLNC):c.3007A>C (p.Met1003Leu)
|
|
|
NM_001458.4(FLNC):c.3022C>T (p.Arg1008Cys)
|
rs757969015
|
|
NM_001458.4(FLNC):c.302C>T (p.Ser101Phe)
|
rs1554396416
|
|
NM_001458.4(FLNC):c.3033C>T (p.Ile1011=)
|
rs757092972
|
|
NM_001458.4(FLNC):c.3039C>A (p.Cys1013Ter)
|
rs1554399014
|
|
NM_001458.4(FLNC):c.3054C>T (p.Gly1018=)
|
rs769624093
|
|
NM_001458.4(FLNC):c.3055G>A (p.Gly1019Ser)
|
rs200864007
|
|
NM_001458.4(FLNC):c.3055G>T (p.Gly1019Cys)
|
rs200864007
|
|
NM_001458.4(FLNC):c.3062C>T (p.Ala1021Val)
|
rs574118437
|
|
NM_001458.4(FLNC):c.3065A>C (p.Glu1022Ala)
|
|
|
NM_001458.4(FLNC):c.3067G>C (p.Ala1023Pro)
|
rs376107866
|
|
NM_001458.4(FLNC):c.3069C>G (p.Ala1023=)
|
rs1022641897
|
|
NM_001458.4(FLNC):c.3081C>A (p.Arg1027=)
|
rs1554399030
|
|
NM_001458.4(FLNC):c.3084C>A (p.Tyr1028Ter)
|
|
|
NM_001458.4(FLNC):c.3085A>G (p.Met1029Val)
|
rs369078760
|
|
NM_001458.4(FLNC):c.3088C>A (p.Pro1030Thr)
|
rs1554399034
|
|
NM_001458.4(FLNC):c.3090C>T (p.Pro1030=)
|
rs760926290
|
|
NM_001458.4(FLNC):c.3092C>A (p.Pro1031Gln)
|
rs372467579
|
|
NM_001458.4(FLNC):c.3092C>T (p.Pro1031Leu)
|
rs372467579
|
|
NM_001458.4(FLNC):c.3114G>A (p.Val1038=)
|
rs376516180
|
|
NM_001458.4(FLNC):c.3122C>T (p.Thr1041Ile)
|
|
|
NM_001458.4(FLNC):c.3133C>A (p.His1045Asn)
|
rs201863231
|
|
NM_001458.4(FLNC):c.3136C>G (p.Pro1046Ala)
|
|
|
NM_001458.4(FLNC):c.3137C>T (p.Pro1046Leu)
|
rs768820218
|
|
NM_001458.4(FLNC):c.3138G>A (p.Pro1046=)
|
rs369739262
|
|
NM_001458.4(FLNC):c.3141G>C (p.Val1047=)
|
rs1554399057
|
|
NM_001458.4(FLNC):c.3145_3146delinsTT (p.Gly1049Phe)
|
rs1585159401
|
|
NM_001458.4(FLNC):c.3148A>G (p.Ser1050Gly)
|
rs773580485
|
|
NM_001458.4(FLNC):c.3152C>T (p.Pro1051Leu)
|
rs546130026
|
|
NM_001458.4(FLNC):c.3153G>A (p.Pro1051=)
|
rs373694043
|
|
NM_001458.4(FLNC):c.3180del (p.Asp1061fs)
|
rs1064795229
|
|
NM_001458.4(FLNC):c.318C>G (p.Phe106Leu)
|
rs886037829
|
|
NM_001458.4(FLNC):c.3193-2A>G
|
rs749889670
|
|
NM_001458.4(FLNC):c.31G>A (p.Gly11Ser)
|
rs370512642
|
|
NM_001458.4(FLNC):c.31G>T (p.Gly11Cys)
|
|
|
NM_001458.4(FLNC):c.3201T>G (p.Ala1067=)
|
rs760214102
|
|
NM_001458.4(FLNC):c.3207C>T (p.Gly1069=)
|
rs753825183
|
|
NM_001458.4(FLNC):c.3209C>T (p.Pro1070Leu)
|
rs370391049
|
|
NM_001458.4(FLNC):c.3240C>T (p.Pro1080=)
|
rs570290798
|
|
NM_001458.4(FLNC):c.3241G>A (p.Ala1081Thr)
|
rs781760817
|
|
NM_001458.4(FLNC):c.3241G>T (p.Ala1081Ser)
|
rs781760817
|
|
NM_001458.4(FLNC):c.3242C>T (p.Ala1081Val)
|
rs200169573
|
|
NM_001458.4(FLNC):c.3243G>A (p.Ala1081=)
|
rs534482249
|
|
NM_001458.4(FLNC):c.3255C>T (p.Ile1085=)
|
rs771719713
|
|
NM_001458.4(FLNC):c.3260C>G (p.Thr1087Ser)
|
rs372205719
|
|
NM_001458.4(FLNC):c.3265G>A (p.Gly1089Arg)
|
rs1554399171
|
|
NM_001458.4(FLNC):c.3289C>T (p.Leu1097=)
|
rs1585159939
|
|
NM_001458.4(FLNC):c.3294C>T (p.Thr1098=)
|
rs753772262
|
|
NM_001458.4(FLNC):c.3295G>A (p.Val1099Ile)
|
rs759452636
|
|
NM_001458.4(FLNC):c.3297A>G (p.Val1099=)
|
rs3734973
|
|
NM_001458.4(FLNC):c.3303C>T (p.Gly1101=)
|
rs568106945
|
|
NM_001458.4(FLNC):c.3304C>T (p.Pro1102Ser)
|
rs199707920
|
|
NM_001458.4(FLNC):c.3310G>A (p.Glu1104Lys)
|
|
|
NM_001458.4(FLNC):c.3321C>T (p.Ile1107=)
|
rs775641996
|
|
NM_001458.4(FLNC):c.3348A>T (p.Ser1116=)
|
rs1053209205
|
|
NM_001458.4(FLNC):c.3372G>A (p.Thr1124=)
|
rs556913973
|
|
NM_001458.4(FLNC):c.3376C>G (p.Pro1126Ala)
|
rs748785077
|
|
NM_001458.4(FLNC):c.3381C>T (p.Gly1127=)
|
|
|
NM_001458.4(FLNC):c.3387C>T (p.Tyr1129=)
|
rs765189701
|
|
NM_001458.4(FLNC):c.3405T>C (p.Phe1135=)
|
rs775337940
|
|
NM_001458.4(FLNC):c.3415C>T (p.His1139Tyr)
|
rs1562996847
|
|
NM_001458.4(FLNC):c.3415del (p.His1139fs)
|
|
|
NM_001458.4(FLNC):c.3426C>T (p.Gly1142=)
|
rs201313781
|
|
NM_001458.4(FLNC):c.3428C>T (p.Ser1143Leu)
|
rs756192123
|
|
NM_001458.4(FLNC):c.342C>T (p.Leu114=)
|
rs368032737
|
|
NM_001458.4(FLNC):c.3430C>T (p.Pro1144Ser)
|
rs1585160095
|
|
NM_001458.4(FLNC):c.3449G>A (p.Arg1150Gln)
|
|
|
NM_001458.4(FLNC):c.3458T>G (p.Phe1153Cys)
|
rs138663492
|
|
NM_001458.4(FLNC):c.3465G>A (p.Pro1155=)
|
rs374686347
|
|
NM_001458.4(FLNC):c.3475C>T (p.Arg1159Trp)
|
rs760500171
|
|
NM_001458.4(FLNC):c.3476G>A (p.Arg1159Gln)
|
rs141199483
|
|
NM_001458.4(FLNC):c.3488C>A (p.Pro1163Gln)
|
|
|
NM_001458.4(FLNC):c.3488C>T (p.Pro1163Leu)
|
rs377489161
|
|
NM_001458.4(FLNC):c.3489G>C (p.Pro1163=)
|
rs369853278
|
|
NM_001458.4(FLNC):c.3499C>T (p.Arg1167Cys)
|
rs766439553
|
|
NM_001458.4(FLNC):c.3500G>A (p.Arg1167His)
|
|
|
NM_001458.4(FLNC):c.3501C>T (p.Arg1167=)
|
rs544320561
|
|
NM_001458.4(FLNC):c.3506A>G (p.Lys1169Arg)
|
rs530742766
|
|
NM_001458.4(FLNC):c.3510C>T (p.Val1170=)
|
rs745571747
|
|
NM_001458.4(FLNC):c.3511G>A (p.Gly1171Ser)
|
rs769490872
|
|
NM_001458.4(FLNC):c.3511G>T (p.Gly1171Cys)
|
rs769490872
|
|
NM_001458.4(FLNC):c.3518C>T (p.Ala1173Val)
|
|
|
NM_001458.4(FLNC):c.352+10G>A
|
rs79489893
|
|
NM_001458.4(FLNC):c.352+8C>G
|
rs780084616
|
|
NM_001458.4(FLNC):c.352+9C>T
|
rs749553028
|
|
NM_001458.4(FLNC):c.3529A>G (p.Thr1177Ala)
|
rs748850596
|
|
NM_001458.4(FLNC):c.353-9C>T
|
rs778957130
|
|
NM_001458.4(FLNC):c.3552C>G (p.Gly1184=)
|
rs373310802
|
|
NM_001458.4(FLNC):c.3553G>A (p.Glu1185Lys)
|
rs912926530
|
|
NM_001458.4(FLNC):c.3557C>T (p.Ala1186Val)
|
rs1114167361
|
|
NM_001458.4(FLNC):c.3581C>T (p.Ser1194Leu)
|
rs773481064
|
|
NM_001458.4(FLNC):c.3582G>A (p.Ser1194=)
|
rs200712644
|
|
NM_001458.4(FLNC):c.3588C>T (p.Ala1196=)
|
rs376078628
|
|
NM_001458.4(FLNC):c.3589G>A (p.Gly1197Arg)
|
rs753812010
|
|
NM_001458.4(FLNC):c.3592G>C (p.Val1198Leu)
|
rs201912847
|
|
NM_001458.4(FLNC):c.3600C>T (p.Ala1200=)
|
rs777931249
|
|
NM_001458.4(FLNC):c.3601G>A (p.Glu1201Lys)
|
rs751963297
|
|
NM_001458.4(FLNC):c.3615C>T (p.His1205=)
|
rs1554399300
|
|
NM_001458.4(FLNC):c.3618C>T (p.Asn1206=)
|
rs1039623010
|
|
NM_001458.4(FLNC):c.3621C>T (p.Asn1207=)
|
rs117864464
|
|
NM_001458.4(FLNC):c.3622G>A (p.Ala1208Thr)
|
rs528279616
|
|
NM_001458.4(FLNC):c.3623C>T (p.Ala1208Val)
|
rs202184162
|
|
NM_001458.4(FLNC):c.3624G>A (p.Ala1208=)
|
rs35281128
|
|
NM_001458.4(FLNC):c.3630C>A (p.Gly1210=)
|
rs771020495
|
|
NM_001458.4(FLNC):c.3649A>T (p.Ser1217Cys)
|
rs759597112
|
|
NM_001458.4(FLNC):c.366C>T (p.Ile122=)
|
rs369120591
|
|
NM_001458.4(FLNC):c.3680C>T (p.Thr1227Ile)
|
rs373573447
|
|
NM_001458.4(FLNC):c.3687G>A (p.Lys1229=)
|
rs1585160379
|
|
NM_001458.4(FLNC):c.3693C>T (p.Gly1231=)
|
rs765922145
|
|
NM_001458.4(FLNC):c.3694G>A (p.Gly1232Arg)
|
rs754533053
|
|
NM_001458.4(FLNC):c.3699del (p.Val1235fs)
|
|
|
NM_001458.4(FLNC):c.3703G>A (p.Val1235Met)
|
rs1208885010
|
|
NM_001458.4(FLNC):c.370G>T (p.Asp124Tyr)
|
|
|
NM_001458.4(FLNC):c.3711A>C (p.Lys1237Asn)
|
rs758220780
|
|
NM_001458.4(FLNC):c.3721C>T (p.Arg1241Cys)
|
rs146953558
|
|
NM_001458.4(FLNC):c.3740C>T (p.Ala1247Val)
|
rs775496136
|
|
NM_001458.4(FLNC):c.3744C>T (p.Val1248=)
|
rs374922440
|
|
NM_001458.4(FLNC):c.3745G>A (p.Asp1249Asn)
|
rs774968828
|
|
NM_001458.4(FLNC):c.3753T>C (p.Ser1251=)
|
rs1228635169
|
|
NM_001458.4(FLNC):c.3756C>T (p.Gly1252=)
|
rs113589230
|
|
NM_001458.4(FLNC):c.3757G>A (p.Val1253Ile)
|
rs117366477
|
|
NM_001458.4(FLNC):c.3765C>A (p.Val1255=)
|
rs556428588
|
|
NM_001458.4(FLNC):c.3772C>T (p.Pro1258Ser)
|
rs374764212
|
|
NM_001458.4(FLNC):c.3781G>C (p.Glu1261Gln)
|
rs747033771
|
|
NM_001458.4(FLNC):c.3783G>A (p.Glu1261=)
|
rs1585160512
|
|
NM_001458.4(FLNC):c.3789C>T (p.His1263=)
|
rs780906350
|
|
NM_001458.4(FLNC):c.3790+5G>A
|
rs199917473
|
|
NM_001458.4(FLNC):c.3790+7G>A
|
rs534439574
|
|
NM_001458.4(FLNC):c.3790G>A (p.Gly1264Ser)
|
rs201335143
|
|
NM_001458.4(FLNC):c.3791-1G>C
|
rs781135153
|
|
NM_001458.4(FLNC):c.3791-8G>A
|
rs374187337
|
|
NM_001458.4(FLNC):c.3793G>A (p.Val1265Ile)
|
rs368102638
|
|
NM_001458.4(FLNC):c.3798G>T (p.Leu1266=)
|
rs755949518
|
|
NM_001458.4(FLNC):c.3799C>T (p.Arg1267Trp)
|
rs371483562
|
|
NM_001458.4(FLNC):c.37G>A (p.Gly13Ser)
|
rs760318519
|
|
NM_001458.4(FLNC):c.3800G>A (p.Arg1267Gln)
|
rs768767784
|
|
NM_001458.4(FLNC):c.3803A>G (p.Glu1268Gly)
|
rs1585161164
|
|
NM_001458.4(FLNC):c.3807G>A (p.Val1269=)
|
rs1585161170
|
|
NM_001458.4(FLNC):c.3812C>G (p.Thr1271Ser)
|
rs778997084
|
|
NM_001458.4(FLNC):c.3833G>A (p.Arg1278Lys)
|
rs540117605
|
|
NM_001458.4(FLNC):c.3835T>C (p.Ser1279Pro)
|
rs1562997744
|
|
NM_001458.4(FLNC):c.3837C>T (p.Ser1279=)
|
rs761100799
|
|
NM_001458.4(FLNC):c.3838C>T (p.Leu1280=)
|
rs34180031
|
|
NM_001458.4(FLNC):c.3847A>G (p.Thr1283Ala)
|
rs367860958
|
|
NM_001458.4(FLNC):c.3852C>T (p.Gly1284=)
|
rs111337293
|
|
NM_001458.4(FLNC):c.3853G>A (p.Gly1285Ser)
|
rs200928780
|
|
NM_001458.4(FLNC):c.3854del (p.Gly1285fs)
|
|
|
NM_001458.4(FLNC):c.3861C>T (p.His1287=)
|
rs375986462
|
|
NM_001458.4(FLNC):c.3862G>A (p.Val1288Met)
|
rs750415476
|
|
NM_001458.4(FLNC):c.3867G>A (p.Thr1289=)
|
rs886038485
|
|
NM_001458.4(FLNC):c.3871C>G (p.Arg1291Gly)
|
rs753591663
|
|
NM_001458.4(FLNC):c.3871C>T (p.Arg1291Cys)
|
rs753591663
|
|
NM_001458.4(FLNC):c.3872G>A (p.Arg1291His)
|
rs370042010
|
|
NM_001458.4(FLNC):c.387G>A (p.Leu129=)
|
rs1159200587
|
|
NM_001458.4(FLNC):c.3881A>G (p.Asn1294Ser)
|
rs944103680
|
|
NM_001458.4(FLNC):c.3885C>T (p.Pro1295=)
|
rs778413094
|
|
NM_001458.4(FLNC):c.3887C>T (p.Ser1296Leu)
|
rs747587140
|
|
NM_001458.4(FLNC):c.3893C>T (p.Ala1298Val)
|
rs1064796931
|
|
NM_001458.4(FLNC):c.3905C>T (p.Thr1302Ile)
|
rs746249435
|
|
NM_001458.4(FLNC):c.3933_3937del (p.Tyr1312fs)
|
|
|
NM_001458.4(FLNC):c.3934_3937dup (p.Arg1313fs)
|
rs1554399513
|
|
NM_001458.4(FLNC):c.3937C>A (p.Arg1313=)
|
rs766330686
|
|
NM_001458.4(FLNC):c.3937C>G (p.Arg1313Gly)
|
rs766330686
|
|
NM_001458.4(FLNC):c.3937C>T (p.Arg1313Ter)
|
rs766330686
|
|
NM_001458.4(FLNC):c.3938G>A (p.Arg1313Gln)
|
rs199804244
|
|
NM_001458.4(FLNC):c.3949A>G (p.Thr1317Ala)
|
rs377555574
|
|
NM_001458.4(FLNC):c.3951C>T (p.Thr1317=)
|
rs765476086
|
|
NM_001458.4(FLNC):c.3960G>A (p.Glu1320=)
|
rs200717144
|
|
NM_001458.4(FLNC):c.3964+10G>A
|
rs747730336
|
|
NM_001458.4(FLNC):c.3964+1G>A
|
|
|
NM_001458.4(FLNC):c.3964+9C>T
|
rs200448727
|
|
NM_001458.4(FLNC):c.3966C>T (p.Gly1322=)
|
rs200237564
|
|
NM_001458.4(FLNC):c.3967G>A (p.Val1323Met)
|
rs771676134
|
|
NM_001458.4(FLNC):c.3972T>C (p.His1324=)
|
rs201922688
|
|
NM_001458.4(FLNC):c.3973C>T (p.Leu1325=)
|
rs34373805
|
|
NM_001458.4(FLNC):c.3982G>A (p.Val1328Ile)
|
rs1585161584
|
|
NM_001458.4(FLNC):c.3987G>A (p.Leu1329=)
|
rs374299121
|
|
NM_001458.4(FLNC):c.398T>C (p.Leu133Pro)
|
|
|
NM_001458.4(FLNC):c.4000G>A (p.Ala1334Thr)
|
rs556477946
|
|
NM_001458.4(FLNC):c.4003G>A (p.Val1335Met)
|
|
|
NM_001458.4(FLNC):c.4018T>A (p.Phe1340Ile)
|
rs775383465
|
|
NM_001458.4(FLNC):c.4018T>G (p.Phe1340Val)
|
rs775383465
|
|
NM_001458.4(FLNC):c.4021C>T (p.Arg1341Ter)
|
rs1562998062
|
|
NM_001458.4(FLNC):c.4022G>A (p.Arg1341Gln)
|
rs149641783
|
|
NM_001458.4(FLNC):c.4023A>T (p.Arg1341=)
|
rs751884031
|
|
NM_001458.4(FLNC):c.4035C>T (p.Thr1345=)
|
rs538733304
|
|
NM_001458.4(FLNC):c.4044T>C (p.Cys1348=)
|
rs1443334555
|
|
NM_001458.4(FLNC):c.4052C>T (p.Thr1351Ile)
|
rs1585161671
|
|
NM_001458.4(FLNC):c.4054C>T (p.Arg1352Cys)
|
rs367931139
|
|
NM_001458.4(FLNC):c.4055G>A (p.Arg1352His)
|
rs746731567
|
|
NM_001458.4(FLNC):c.4056C>T (p.Arg1352=)
|
rs75770585
|
|
NM_001458.4(FLNC):c.4057G>A (p.Val1353Ile)
|
|
|
NM_001458.4(FLNC):c.4060C>G (p.Arg1354Gly)
|
rs138193236
|
|
NM_001458.4(FLNC):c.4060C>T (p.Arg1354Ter)
|
rs138193236
|
|
NM_001458.4(FLNC):c.4061G>A (p.Arg1354Gln)
|
|
|
NM_001458.4(FLNC):c.4068C>T (p.Phe1356=)
|
rs745413025
|
|
NM_001458.4(FLNC):c.4069G>A (p.Gly1357Arg)
|
rs1218299104
|
|
NM_001458.4(FLNC):c.4073C>G (p.Pro1358Arg)
|
rs769586047
|
|
NM_001458.4(FLNC):c.408G>A (p.Thr136=)
|
rs370110008
|
|
NM_001458.4(FLNC):c.4092G>C (p.Leu1364Phe)
|
rs768635501
|
|
NM_001458.4(FLNC):c.4097A>G (p.Asn1366Ser)
|
rs185746835
|
|
NM_001458.4(FLNC):c.4103C>T (p.Ala1368Val)
|
|
|
NM_001458.4(FLNC):c.4106A>G (p.Asn1369Ser)
|
rs1554399615
|
|
NM_001458.4(FLNC):c.4108C>T (p.Arg1370Ter)
|
|
|
NM_001458.4(FLNC):c.4109G>A (p.Arg1370Gln)
|
rs761881020
|
|
NM_001458.4(FLNC):c.4125C>T (p.Thr1375=)
|
rs191931963
|
|
NM_001458.4(FLNC):c.4127+1G>T
|
rs1346981294
|
|
NM_001458.4(FLNC):c.4127+7T>C
|
rs1436165683
|
|
NM_001458.4(FLNC):c.4127+9C>T
|
rs368729011
|
|
NM_001458.4(FLNC):c.4128-2_4128-1del
|
|
|
NM_001458.4(FLNC):c.4133C>T (p.Ala1378Val)
|
rs748008658
|
|
NM_001458.4(FLNC):c.4140C>T (p.Thr1380=)
|
rs183668401
|
|
NM_001458.4(FLNC):c.4141G>A (p.Gly1381Arg)
|
rs766513255
|
|
NM_001458.4(FLNC):c.4153C>T (p.Leu1385=)
|
rs202125701
|
|
NM_001458.4(FLNC):c.4159A>G (p.Ile1387Val)
|
rs1032003580
|
|
NM_001458.4(FLNC):c.4161C>T (p.Ile1387=)
|
rs200288149
|
|
NM_001458.4(FLNC):c.4184T>A (p.Met1395Lys)
|
rs1372801269
|
|
NM_001458.4(FLNC):c.4218C>T (p.Thr1406=)
|
rs748827721
|
|
NM_001458.4(FLNC):c.4219G>A (p.Val1407Met)
|
rs375366821
|
|
NM_001458.4(FLNC):c.4222G>A (p.Glu1408Lys)
|
|
|
NM_001458.4(FLNC):c.4229T>A (p.Ile1410Asn)
|
rs778951900
|
|
NM_001458.4(FLNC):c.423C>T (p.Tyr141=)
|
rs761354079
|
|
NM_001458.4(FLNC):c.4269C>T (p.Phe1423=)
|
rs781089974
|
|
NM_001458.4(FLNC):c.4270G>A (p.Gly1424Arg)
|
rs1202331272
|
|
NM_001458.4(FLNC):c.4289-4A>C
|
rs140031589
|
|
NM_001458.4(FLNC):c.4289-7_4289-5del
|
rs1286999803
|
|
NM_001458.4(FLNC):c.4296G>A (p.Pro1432=)
|
rs370827536
|
|
NM_001458.4(FLNC):c.4300C>T (p.Arg1434Cys)
|
rs536331212
|
|
NM_001458.4(FLNC):c.4301G>A (p.Arg1434His)
|
rs143623535
|
|
NM_001458.4(FLNC):c.4301G>T (p.Arg1434Leu)
|
rs143623535
|
|
NM_001458.4(FLNC):c.4302C>T (p.Arg1434=)
|
rs114697352
|
|
NM_001458.4(FLNC):c.4303G>A (p.Val1435Met)
|
rs370643162
|
|
NM_001458.4(FLNC):c.4310T>C (p.Val1437Ala)
|
rs754170282
|
|
NM_001458.4(FLNC):c.4315G>A (p.Asp1439Asn)
|
rs1562998835
|
|
NM_001458.4(FLNC):c.4326C>A (p.Asp1442Glu)
|
|
|
NM_001458.4(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer)
|
rs1562998858
|
|
NM_001458.4(FLNC):c.4334A>G (p.Lys1445Arg)
|
rs371591881
|
|
NM_001458.4(FLNC):c.4367G>C (p.Gly1456Ala)
|
rs775049569
|
|
NM_001458.4(FLNC):c.4372A>G (p.Arg1458Gly)
|
rs762257502
|
|
NM_001458.4(FLNC):c.4374G>A (p.Arg1458=)
|
rs1305563889
|
|
NM_001458.4(FLNC):c.4378C>T (p.Arg1460Trp)
|
|
|
NM_001458.4(FLNC):c.4404= (p.Asp1468=)
|
rs2249128
|
|
NM_001458.4(FLNC):c.4404C>T (p.Asp1468=)
|
rs2249128
|
|
NM_001458.4(FLNC):c.4413A>T (p.Gln1471His)
|
rs765435961
|
|
NM_001458.4(FLNC):c.4420C>T (p.Arg1474Trp)
|
rs372454458
|
|
NM_001458.4(FLNC):c.4421G>A (p.Arg1474Gln)
|
|
|
NM_001458.4(FLNC):c.4424C>T (p.Ala1475Val)
|
rs369305865
|
|
NM_001458.4(FLNC):c.4425G>A (p.Ala1475=)
|
rs371971762
|
|
NM_001458.4(FLNC):c.4431G>A (p.Leu1477=)
|
rs2291568
|
|
NM_001458.4(FLNC):c.444G>A (p.Trp148Ter)
|
rs1554397197
|
|
NM_001458.4(FLNC):c.4459G>A (p.Val1487Met)
|
rs750186463
|
|
NM_001458.4(FLNC):c.4471G>A (p.Val1491Met)
|
|
|
NM_001458.4(FLNC):c.4474G>A (p.Glu1492Lys)
|
rs71581926
|
|
NM_001458.4(FLNC):c.4479G>A (p.Val1493=)
|
rs756021559
|
|
NM_001458.4(FLNC):c.4480C>T (p.Arg1494Trp)
|
rs779079128
|
|
NM_001458.4(FLNC):c.4481G>A (p.Arg1494Gln)
|
rs1241325618
|
|
NM_001458.4(FLNC):c.4488T>C (p.Asn1496=)
|
rs377258966
|
|
NM_001458.4(FLNC):c.4497C>T (p.Gly1499=)
|
|
|
NM_001458.4(FLNC):c.449A>G (p.Asp150Gly)
|
rs760711912
|
|
NM_001458.4(FLNC):c.4541C>T (p.Thr1514Met)
|
|
|
NM_001458.4(FLNC):c.4549G>A (p.Val1517Ile)
|
rs532654321
|
|
NM_001458.4(FLNC):c.4553A>G (p.Lys1518Arg)
|
rs201635205
|
|
NM_001458.4(FLNC):c.4556A>G (p.Tyr1519Cys)
|
rs1012086057
|
|
NM_001458.4(FLNC):c.4565A>G (p.Gln1522Arg)
|
rs1022106059
|
|
NM_001458.4(FLNC):c.4566G>T (p.Gln1522His)
|
rs559667295
|
|
NM_001458.4(FLNC):c.4570G>A (p.Val1524Met)
|
rs1358403336
|
|
NM_001458.4(FLNC):c.4576C>G (p.Arg1526Gly)
|
|
|
NM_001458.4(FLNC):c.4576C>T (p.Arg1526Cys)
|
rs746275035
|
|
NM_001458.4(FLNC):c.4579A>G (p.Ser1527Gly)
|
rs747642919
|
|
NM_001458.4(FLNC):c.4581-5T>A
|
rs368660628
|
|
NM_001458.4(FLNC):c.4589A>G (p.Lys1530Arg)
|
rs756526090
|
|
NM_001458.4(FLNC):c.4590G>T (p.Lys1530Asn)
|
rs778534100
|
|
NM_001458.4(FLNC):c.4593C>G (p.Ile1531Met)
|
rs371988433
|
|
NM_001458.4(FLNC):c.4597G>A (p.Val1533Ile)
|
rs1554399973
|
|
NM_001458.4(FLNC):c.4611T>C (p.His1537=)
|
rs376222096
|
|
NM_001458.4(FLNC):c.4616C>T (p.Ala1539Val)
|
rs770746660
|
|
NM_001458.4(FLNC):c.4621A>T (p.Lys1541Ter)
|
rs1562999451
|
|
NM_001458.4(FLNC):c.4627C>T (p.Arg1543Trp)
|
rs745648230
|
|
NM_001458.4(FLNC):c.4628G>A (p.Arg1543Gln)
|
rs369178040
|
|
NM_001458.4(FLNC):c.4636G>A (p.Gly1546Ser)
|
rs774263134
|
|
NM_001458.4(FLNC):c.4651G>A (p.Ala1551Thr)
|
rs565918031
|
|
NM_001458.4(FLNC):c.4660A>C (p.Ile1554Leu)
|
rs754224673
|
|
NM_001458.4(FLNC):c.4662C>T (p.Ile1554=)
|
rs374683306
|
|
NM_001458.4(FLNC):c.4678G>A (p.Val1560Met)
|
|
|
NM_001458.4(FLNC):c.4695C>T (p.Asp1565=)
|
rs769871754
|
|
NM_001458.4(FLNC):c.4699C>T (p.Arg1567Trp)
|
rs369842920
|
|
NM_001458.4(FLNC):c.469C>G (p.Arg157Gly)
|
rs759739899
|
|
NM_001458.4(FLNC):c.469C>T (p.Arg157Cys)
|
rs759739899
|
|
NM_001458.4(FLNC):c.46G>T (p.Asp16Tyr)
|
|
|
NM_001458.4(FLNC):c.4700G>A (p.Arg1567Gln)
|
rs2291569
|
|
NM_001458.4(FLNC):c.4700G>T (p.Arg1567Leu)
|
rs2291569
|
|
NM_001458.4(FLNC):c.4704C>T (p.Asp1568=)
|
rs749131315
|
|
NM_001458.4(FLNC):c.4705G>A (p.Ala1569Thr)
|
rs768737324
|
|
NM_001458.4(FLNC):c.4707G>A (p.Ala1569=)
|
rs541323590
|
|
NM_001458.4(FLNC):c.4708G>T (p.Gly1570Cys)
|
rs1562999563
|
|
NM_001458.4(FLNC):c.470G>A (p.Arg157His)
|
rs752919962
|
|
NM_001458.4(FLNC):c.4710C>T (p.Gly1570=)
|
rs774692750
|
|
NM_001458.4(FLNC):c.4716del (p.Leu1573fs)
|
rs1554400021
|
|
NM_001458.4(FLNC):c.4724C>G (p.Thr1575Ser)
|
|
|
NM_001458.4(FLNC):c.4729C>T (p.Gln1577Ter)
|
rs1585163755
|
|
NM_001458.4(FLNC):c.4737+9_4737+10del
|
rs794727437
|
|
NM_001458.4(FLNC):c.4744G>A (p.Glu1582Lys)
|
rs753022721
|
|
NM_001458.4(FLNC):c.4762G>C (p.Ala1588Pro)
|
rs761482137
|
|
NM_001458.4(FLNC):c.4763C>G (p.Ala1588Gly)
|
rs148545460
|
|
NM_001458.4(FLNC):c.4771C>T (p.Arg1591Trp)
|
rs576453637
|
|
NM_001458.4(FLNC):c.4790C>T (p.Thr1597Met)
|
rs753742681
|
|
NM_001458.4(FLNC):c.4791G>A (p.Thr1597=)
|
rs374180766
|
|
NM_001458.4(FLNC):c.4795A>G (p.Thr1599Ala)
|
rs2643767
|
|
NM_001458.4(FLNC):c.479C>T (p.Thr160Met)
|
rs1357772572
|
|
NM_001458.4(FLNC):c.4812G>A (p.Pro1604=)
|
|
|
NM_001458.4(FLNC):c.4825C>G (p.Arg1609Gly)
|
rs374756527
|
|
NM_001458.4(FLNC):c.4825C>T (p.Arg1609Trp)
|
rs374756527
|
|
NM_001458.4(FLNC):c.4826G>A (p.Arg1609Gln)
|
rs1168628508
|
|
NM_001458.4(FLNC):c.4832C>T (p.Thr1611Ile)
|
|
|
NM_001458.4(FLNC):c.4871C>T (p.Ser1624Leu)
|
rs879255639
|
|
NM_001458.4(FLNC):c.4872G>A (p.Ser1624=)
|
rs767264014
|
|
NM_001458.4(FLNC):c.4874C>T (p.Pro1625Leu)
|
rs1585164029
|
|
NM_001458.4(FLNC):c.4879C>T (p.Arg1627Cys)
|
rs760407609
|
|
NM_001458.4(FLNC):c.4880G>A (p.Arg1627His)
|
rs751592993
|
|
NM_001458.4(FLNC):c.4888G>T (p.Ala1630Ser)
|
rs1479430297
|
|
NM_001458.4(FLNC):c.490C>T (p.Arg164Trp)
|
rs1460797312
|
|
NM_001458.4(FLNC):c.4914G>A (p.Lys1638=)
|
rs371385321
|
|
NM_001458.4(FLNC):c.4921G>A (p.Val1641Ile)
|
rs575068215
|
|
NM_001458.4(FLNC):c.4925C>T (p.Thr1642Ile)
|
rs756074974
|
|
NM_001458.4(FLNC):c.4926_4927insACGTCACA (p.Val1643fs)
|
rs1402879259
|
|
NM_001458.4(FLNC):c.4928-4C>G
|
rs774816687
|
|
NM_001458.4(FLNC):c.4928-7T>C
|
rs201957008
|
|
NM_001458.4(FLNC):c.492G>T (p.Arg164=)
|
rs751988597
|
|
NM_001458.4(FLNC):c.4947C>T (p.Gly1649=)
|
rs201069454
|
|
NM_001458.4(FLNC):c.4951+10C>T
|
rs778809639
|
|
NM_001458.4(FLNC):c.4951+7G>A
|
rs370501464
|
|
NM_001458.4(FLNC):c.4952-10C>T
|
rs142611699
|
|
NM_001458.4(FLNC):c.4952-2A>T
|
rs774945928
|
|
NM_001458.4(FLNC):c.4952-9G>T
|
rs747821376
|
|
NM_001458.4(FLNC):c.4952G>A (p.Gly1651Asp)
|
rs762493974
|
|
NM_001458.4(FLNC):c.4969C>T (p.Arg1657Ter)
|
rs1563000044
|
|
NM_001458.4(FLNC):c.4970G>A (p.Arg1657Gln)
|
rs374294752
|
|
NM_001458.4(FLNC):c.4977G>C (p.Gln1659His)
|
rs1297786780
|
|
NM_001458.4(FLNC):c.4984C>T (p.Gln1662Ter)
|
|
|
NM_001458.4(FLNC):c.4991C>T (p.Thr1664Met)
|
rs780829334
|
|
NM_001458.4(FLNC):c.5000C>T (p.Thr1667Met)
|
rs753945728
|
|
NM_001458.4(FLNC):c.5001G>A (p.Thr1667=)
|
rs370711488
|
|
NM_001458.4(FLNC):c.5011A>G (p.Lys1671Glu)
|
rs1563000088
|
|
NM_001458.4(FLNC):c.5019C>T (p.Ala1673=)
|
rs747436514
|
|
NM_001458.4(FLNC):c.5020G>A (p.Gly1674Ser)
|
rs374124083
|
|
NM_001458.4(FLNC):c.5026G>A (p.Gly1676Arg)
|
rs1585164542
|
|
NM_001458.4(FLNC):c.5029A>C (p.Lys1677Gln)
|
rs1554400214
|
|
NM_001458.4(FLNC):c.5042C>G (p.Thr1681Arg)
|
rs193159707
|
|
NM_001458.4(FLNC):c.5051C>T (p.Thr1684Met)
|
rs1294213097
|
|
NM_001458.4(FLNC):c.5055G>A (p.Pro1685=)
|
rs57797061
|
|
NM_001458.4(FLNC):c.5070C>T (p.Leu1690=)
|
rs202027738
|
|
NM_001458.4(FLNC):c.5071G>A (p.Asp1691Asn)
|
rs777061037
|
|
NM_001458.4(FLNC):c.5097C>T (p.Asp1699=)
|
rs1246194093
|
|
NM_001458.4(FLNC):c.5123C>T (p.Ala1708Val)
|
rs1011817473
|
|
NM_001458.4(FLNC):c.5127C>T (p.Pro1709=)
|
|
|
NM_001458.4(FLNC):c.5128G>A (p.Glu1710Lys)
|
rs200077114
|
|
NM_001458.4(FLNC):c.5132C>T (p.Pro1711Leu)
|
rs748879903
|
|
NM_001458.4(FLNC):c.5133G>A (p.Pro1711=)
|
rs754646406
|
|
NM_001458.4(FLNC):c.5143G>A (p.Val1715Ile)
|
rs200178370
|
|
NM_001458.4(FLNC):c.5155C>T (p.Arg1719Cys)
|
rs773260834
|
|
NM_001458.4(FLNC):c.5157C>T (p.Arg1719=)
|
rs770784518
|
|
NM_001458.4(FLNC):c.5160C>T (p.Phe1720=)
|
rs562101000
|
|
NM_001458.4(FLNC):c.5161G>A (p.Gly1721Arg)
|
|
|
NM_001458.4(FLNC):c.5162G>A (p.Gly1721Glu)
|
|
|
NM_001458.4(FLNC):c.5165G>C (p.Gly1722Ala)
|
rs775405275
|
|
NM_001458.4(FLNC):c.5165del (p.Gly1722fs)
|
rs1554400242
|
|
NM_001458.4(FLNC):c.517G>T (p.Val173Leu)
|
rs376235207
|
|
NM_001458.4(FLNC):c.5181C>A (p.Asn1727Lys)
|
rs764500516
|
|
NM_001458.4(FLNC):c.5182A>G (p.Ser1728Gly)
|
rs1554400248
|
|
NM_001458.4(FLNC):c.5194G>A (p.Val1732Met)
|
rs374848954
|
|
NM_001458.4(FLNC):c.5199+1G>C
|
|
|
NM_001458.4(FLNC):c.51G>A (p.Glu17=)
|
rs753490528
|
|
NM_001458.4(FLNC):c.5200-10G>A
|
rs1554400346
|
|
NM_001458.4(FLNC):c.5200-8C>T
|
rs1478656876
|
|
NM_001458.4(FLNC):c.5200-9C>T
|
rs777290470
|
|
NM_001458.4(FLNC):c.5202G>A (p.Ala1734=)
|
rs757233206
|
|
NM_001458.4(FLNC):c.5208C>A (p.Asp1736Glu)
|
rs1291689149
|
|
NM_001458.4(FLNC):c.520C>T (p.Pro174Ser)
|
rs1350019040
|
|
NM_001458.4(FLNC):c.5216C>A (p.Pro1739Gln)
|
rs745650222
|
|
NM_001458.4(FLNC):c.5216C>T (p.Pro1739Leu)
|
rs745650222
|
|
NM_001458.4(FLNC):c.5217G>T (p.Pro1739=)
|
rs769643482
|
|
NM_001458.4(FLNC):c.5238A>C (p.Glu1746Asp)
|
rs1563000552
|
|
NM_001458.4(FLNC):c.5251C>T (p.Arg1751Cys)
|
rs1585165163
|
|
NM_001458.4(FLNC):c.5257C>A (p.Pro1753Thr)
|
rs573399358
|
|
NM_001458.4(FLNC):c.5261A>G (p.Tyr1754Cys)
|
rs1330454582
|
|
NM_001458.4(FLNC):c.5262C>T (p.Tyr1754=)
|
rs369165766
|
|
NM_001458.4(FLNC):c.5264C>G (p.Ala1755Gly)
|
rs1286156977
|
|
NM_001458.4(FLNC):c.5275C>T (p.Pro1759Ser)
|
rs892618706
|
|
NM_001458.4(FLNC):c.5277C>T (p.Pro1759=)
|
rs763698034
|
|
NM_001458.4(FLNC):c.5291C>A (p.Thr1764Lys)
|
rs1585165259
|
|
NM_001458.4(FLNC):c.5296T>C (p.Trp1766Arg)
|
rs751650734
|
|
NM_001458.4(FLNC):c.5298+6G>A
|
rs373553314
|
|
NM_001458.4(FLNC):c.5298+7C>T
|
rs773294846
|
|
NM_001458.4(FLNC):c.5299-9C>T
|
rs1554400444
|
|
NM_001458.4(FLNC):c.5310G>A (p.Glu1770=)
|
rs777868799
|
|
NM_001458.4(FLNC):c.5311C>G (p.Pro1771Ala)
|
rs200001272
|
|
NM_001458.4(FLNC):c.5332A>G (p.Met1778Val)
|
|
|
NM_001458.4(FLNC):c.5343G>A (p.Met1781Ile)
|
rs1554400464
|
|
NM_001458.4(FLNC):c.5353T>A (p.Phe1785Ile)
|
rs1035403005
|
|
NM_001458.4(FLNC):c.5354T>C (p.Phe1785Ser)
|
|
|
NM_001458.4(FLNC):c.5363T>G (p.Val1788Gly)
|
rs573899913
|
|
NM_001458.4(FLNC):c.5367C>T (p.Ile1789=)
|
rs377214486
|
|
NM_001458.4(FLNC):c.5373C>T (p.Phe1791=)
|
rs370373860
|
|
NM_001458.4(FLNC):c.5374G>A (p.Ala1792Thr)
|
rs201348102
|
|
NM_001458.4(FLNC):c.5375C>T (p.Ala1792Val)
|
rs200233856
|
|
NM_001458.4(FLNC):c.5376G>A (p.Ala1792=)
|
rs758648462
|
|
NM_001458.4(FLNC):c.5377G>A (p.Val1793Met)
|
rs587780337
|
|
NM_001458.4(FLNC):c.5397A>C (p.Thr1799=)
|
|
|
NM_001458.4(FLNC):c.5398+1G>C
|
|
|
NM_001458.4(FLNC):c.5398+6G>C
|
rs746415033
|
|
NM_001458.4(FLNC):c.5408G>A (p.Arg1803Gln)
|
rs757482925
|
|
NM_001458.4(FLNC):c.5410A>T (p.Met1804Leu)
|
rs201949844
|
|
NM_001458.4(FLNC):c.5418G>A (p.Ser1806=)
|
rs376078394
|
|
NM_001458.4(FLNC):c.5426C>T (p.Thr1809Met)
|
rs369118592
|
|
NM_001458.4(FLNC):c.5427G>A (p.Thr1809=)
|
rs774600814
|
|
NM_001458.4(FLNC):c.5427G>C (p.Thr1809=)
|
rs774600814
|
|
NM_001458.4(FLNC):c.5432G>A (p.Arg1811Gln)
|
rs369759751
|
|
NM_001458.4(FLNC):c.5444C>T (p.Thr1815Ile)
|
|
|
NM_001458.4(FLNC):c.5445C>T (p.Thr1815=)
|
rs758995789
|
|
NM_001458.4(FLNC):c.5449A>T (p.Asn1817Tyr)
|
rs373146637
|
|
NM_001458.4(FLNC):c.5451C>G (p.Asn1817Lys)
|
rs762869314
|
|
NM_001458.4(FLNC):c.5457C>T (p.Asp1819=)
|
rs376660713
|
|
NM_001458.4(FLNC):c.5468C>T (p.Thr1823Met)
|
rs140857707
|
|
NM_001458.4(FLNC):c.5469G>A (p.Thr1823=)
|
rs550620019
|
|
NM_001458.4(FLNC):c.5469G>C (p.Thr1823=)
|
rs550620019
|
|
NM_001458.4(FLNC):c.5469_5482del (p.Val1824fs)
|
|
|
NM_001458.4(FLNC):c.5477A>G (p.Tyr1826Cys)
|
|
|
NM_001458.4(FLNC):c.5478T>C (p.Tyr1826=)
|
rs371167779
|
|
NM_001458.4(FLNC):c.5478T>G (p.Tyr1826Ter)
|
rs371167779
|
|
NM_001458.4(FLNC):c.5486C>T (p.Thr1829Ile)
|
rs1585166066
|
|
NM_001458.4(FLNC):c.548G>A (p.Arg183His)
|
|
|
NM_001458.4(FLNC):c.5500C>T (p.His1834Tyr)
|
rs377141822
|
|
NM_001458.4(FLNC):c.5506A>C (p.Met1836Leu)
|
|
|
NM_001458.4(FLNC):c.5508G>A (p.Met1836Ile)
|
|
|
NM_001458.4(FLNC):c.550G>A (p.Asp184Asn)
|
|
|
NM_001458.4(FLNC):c.5517G>A (p.Lys1839=)
|
rs779185071
|
|
NM_001458.4(FLNC):c.5523C>T (p.Asp1841=)
|
rs748504948
|
|
NM_001458.4(FLNC):c.5537C>T (p.Pro1846Leu)
|
rs1408298919
|
|
NM_001458.4(FLNC):c.5539+10GGGCT[4]
|
rs752668700
|
|
NM_001458.4(FLNC):c.5540-6C>A
|
rs201335006
|
|
NM_001458.4(FLNC):c.5540-6C>G
|
rs201335006
|
|
NM_001458.4(FLNC):c.5544C>T (p.Ser1848=)
|
rs1350503435
|
|
NM_001458.4(FLNC):c.5545C>A (p.Pro1849Thr)
|
|
|
NM_001458.4(FLNC):c.554G>A (p.Trp185Ter)
|
rs1585151331
|
|
NM_001458.4(FLNC):c.5568C>G (p.Ala1856=)
|
rs1554400651
|
|
NM_001458.4(FLNC):c.5578C>T (p.Arg1860Cys)
|
rs181067717
|
|
NM_001458.4(FLNC):c.5579G>A (p.Arg1860His)
|
rs1019973830
|
|
NM_001458.4(FLNC):c.5592C>T (p.Ala1864=)
|
rs117517372
|
|
NM_001458.4(FLNC):c.5618T>A (p.Met1873Lys)
|
|
|
NM_001458.4(FLNC):c.561C>T (p.Asp187=)
|
rs149474376
|
|
NM_001458.4(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
|
NM_001458.4(FLNC):c.5653A>T (p.Lys1885Ter)
|
rs1563001456
|
|
NM_001458.4(FLNC):c.5668+4A>C
|
rs1259876470
|
|
NM_001458.4(FLNC):c.5668+6G>A
|
rs773119692
|
|
NM_001458.4(FLNC):c.5669-10C>T
|
rs371394538
|
|
NM_001458.4(FLNC):c.5669-9C>T
|
rs374651908
|
|
NM_001458.4(FLNC):c.5670G>A (p.Gly1890=)
|
rs369881758
|
|
NM_001458.4(FLNC):c.5672delG
|
rs1563001548
|
|
NM_001458.4(FLNC):c.5675_5678del (p.Leu1892fs)
|
rs1585166614
|
|
NM_001458.4(FLNC):c.5686G>A (p.Val1896Met)
|
rs891651799
|
|
NM_001458.4(FLNC):c.5697A>G (p.Pro1899=)
|
rs1585166641
|
|
NM_001458.4(FLNC):c.5697dup (p.Ser1900fs)
|
rs1554400700
|
|
NM_001458.4(FLNC):c.5709G>A (p.Glu1903=)
|
rs1279073825
|
|
NM_001458.4(FLNC):c.5709G>T (p.Glu1903Asp)
|
|
|
NM_001458.4(FLNC):c.5716T>C (p.Cys1906Arg)
|
rs1585166667
|
|
NM_001458.4(FLNC):c.5746G>A (p.Val1916Met)
|
rs763551371
|
|
NM_001458.4(FLNC):c.5754T>C (p.Tyr1918=)
|
rs764539989
|
|
NM_001458.4(FLNC):c.5760G>A (p.Pro1920=)
|
rs375912712
|
|
NM_001458.4(FLNC):c.5763T>C (p.Thr1921=)
|
rs3816884
|
|
NM_001458.4(FLNC):c.5763_5764inv (p.Ala1922Thr)
|
|
|
NM_001458.4(FLNC):c.5764G>A (p.Ala1922Thr)
|
rs202128602
|
|
NM_001458.4(FLNC):c.5766G>A (p.Ala1922=)
|
rs58914363
|
|
NM_001458.4(FLNC):c.576C>T (p.Gly192=)
|
rs554658261
|
|
NM_001458.4(FLNC):c.5770G>A (p.Gly1924Arg)
|
rs1585166739
|
|
NM_001458.4(FLNC):c.5777A>G (p.Tyr1926Cys)
|
rs376653815
|
|
NM_001458.4(FLNC):c.577G>A (p.Ala193Thr)
|
rs387906587
|
|
NM_001458.4(FLNC):c.5787C>T (p.Ile1929=)
|
rs377063332
|
|
NM_001458.4(FLNC):c.5791C>T (p.Arg1931Cys)
|
rs562155863
|
|
NM_001458.4(FLNC):c.5792G>A (p.Arg1931His)
|
rs780685346
|
|
NM_001458.4(FLNC):c.5792G>T (p.Arg1931Leu)
|
rs780685346
|
|
NM_001458.4(FLNC):c.5793C>G (p.Arg1931=)
|
rs374631384
|
|
NM_001458.4(FLNC):c.5796C>T (p.Phe1932=)
|
rs572337697
|
|
NM_001458.4(FLNC):c.5797G>A (p.Asp1933Asn)
|
rs762297336
|
|
NM_001458.4(FLNC):c.5805G>A (p.Lys1935=)
|
rs759262897
|
|
NM_001458.4(FLNC):c.5807A>C (p.His1936Pro)
|
|
|
NM_001458.4(FLNC):c.5810T>A (p.Ile1937Asn)
|
rs1585166795
|
|
NM_001458.4(FLNC):c.5813C>T (p.Pro1938Leu)
|
rs764747370
|
|
NM_001458.4(FLNC):c.5814G>A (p.Pro1938=)
|
rs752263141
|
|
NM_001458.4(FLNC):c.5822C>T (p.Pro1941Leu)
|
|
|
NM_001458.4(FLNC):c.5828C>T (p.Thr1943Ile)
|
rs376413798
|
|
NM_001458.4(FLNC):c.5837T>C (p.Ile1946Thr)
|
|
|
NM_001458.4(FLNC):c.5842+7C>T
|
rs370905549
|
|
NM_001458.4(FLNC):c.5842+8G>A
|
rs781168906
|
|
NM_001458.4(FLNC):c.5843-2A>G
|
|
|
NM_001458.4(FLNC):c.5843-6C>G
|
rs370264663
|
|
NM_001458.4(FLNC):c.5872A>T (p.Asn1958Tyr)
|
rs567595947
|
|
NM_001458.4(FLNC):c.5888C>A (p.Thr1963Lys)
|
|
|
NM_001458.4(FLNC):c.5888C>T (p.Thr1963Met)
|
rs772580545
|
|
NM_001458.4(FLNC):c.5889G>A (p.Thr1963=)
|
rs374743518
|
|
NM_001458.4(FLNC):c.5892C>T (p.Asp1964=)
|
rs747546440
|
|
NM_001458.4(FLNC):c.5893G>A (p.Val1965Met)
|
|
|
NM_001458.4(FLNC):c.5894T>G (p.Val1965Gly)
|
rs1585167670
|
|
NM_001458.4(FLNC):c.5904dup (p.Ile1969fs)
|
rs1585167678
|
|
NM_001458.4(FLNC):c.5909C>T (p.Thr1970Ile)
|
rs1563002254
|
|
NM_001458.4(FLNC):c.590A>G (p.Asn197Ser)
|
|
|
NM_001458.4(FLNC):c.5910C>T (p.Thr1970=)
|
rs544613263
|
|
NM_001458.4(FLNC):c.5913G>A (p.Glu1971=)
|
rs368751662
|
|
NM_001458.4(FLNC):c.5922G>T (p.Leu1974=)
|
rs370900824
|
|
NM_001458.4(FLNC):c.5935G>A (p.Ala1979Thr)
|
|
|
NM_001458.4(FLNC):c.5944C>T (p.Arg1982Cys)
|
rs538779271
|
|
NM_001458.4(FLNC):c.5945G>A (p.Arg1982His)
|
|
|
NM_001458.4(FLNC):c.594C>T (p.Cys198=)
|
rs375617228
|
|
NM_001458.4(FLNC):c.5954C>T (p.Ser1985Leu)
|
rs200415625
|
|
NM_001458.4(FLNC):c.5955G>A (p.Ser1985=)
|
rs777895128
|
|
NM_001458.4(FLNC):c.595G>A (p.Ala199Thr)
|
rs1410315376
|
|
NM_001458.4(FLNC):c.5962G>A (p.Glu1988Lys)
|
|
|
NM_001458.4(FLNC):c.5978T>G (p.Leu1993Arg)
|
|
|
NM_001458.4(FLNC):c.597C>T (p.Ala199=)
|
rs143942649
|
|
NM_001458.4(FLNC):c.5984G>A (p.Arg1995His)
|
rs371508414
|
|
NM_001458.4(FLNC):c.5995C>T (p.Arg1999Trp)
|
|
|
NM_001458.4(FLNC):c.5996G>A (p.Arg1999Gln)
|
rs1346364708
|
|
NM_001458.4(FLNC):c.5997G>A (p.Arg1999=)
|
rs1554400935
|
|
NM_001458.4(FLNC):c.59A>C (p.Glu20Ala)
|
rs1478918808
|
|
NM_001458.4(FLNC):c.6002T>C (p.Ile2001Thr)
|
rs1554400940
|
|
NM_001458.4(FLNC):c.6005-7T>C
|
rs1585167904
|
|
NM_001458.4(FLNC):c.6005-9T>C
|
rs118124743
|
|
NM_001458.4(FLNC):c.6005G>T (p.Gly2002Val)
|
rs747796553
|
|
NM_001458.4(FLNC):c.600C>T (p.Pro200=)
|
rs202105410
|
|
NM_001458.4(FLNC):c.6015C>T (p.Phe2005=)
|
rs771715893
|
|
NM_001458.4(FLNC):c.6022A>G (p.Lys2008Glu)
|
rs772621794
|
|
NM_001458.4(FLNC):c.6031G>A (p.Gly2011Arg)
|
rs1554400962
|
|
NM_001458.4(FLNC):c.6036G>A (p.Glu2012=)
|
rs1392711485
|
|
NM_001458.4(FLNC):c.6040G>A (p.Val2014Met)
|
rs772477251
|
|
NM_001458.4(FLNC):c.6041T>C (p.Val2014Ala)
|
|
|
NM_001458.4(FLNC):c.6043G>A (p.Val2015Met)
|
rs775231810
|
|
NM_001458.4(FLNC):c.6052C>T (p.Arg2018Cys)
|
rs1335627502
|
|
NM_001458.4(FLNC):c.6053G>A (p.Arg2018His)
|
rs764326184
|
|
NM_001458.4(FLNC):c.6058A>T (p.Ser2020Cys)
|
rs537114122
|
|
NM_001458.4(FLNC):c.6095T>C (p.Leu2032Pro)
|
rs1554400980
|
|
NM_001458.4(FLNC):c.609C>T (p.Cys203=)
|
rs1455396332
|
|
NM_001458.4(FLNC):c.6104C>T (p.Pro2035Leu)
|
|
|
NM_001458.4(FLNC):c.6114C>T (p.Ile2038=)
|
rs559639511
|
|
NM_001458.4(FLNC):c.6120C>T (p.Asp2040=)
|
rs116974302
|
|
NM_001458.4(FLNC):c.6121G>C (p.Ala2041Pro)
|
rs745842738
|
|
NM_001458.4(FLNC):c.6122C>A (p.Ala2041Asp)
|
rs1585168065
|
|
NM_001458.4(FLNC):c.612C>T (p.Pro204=)
|
rs368103032
|
|
NM_001458.4(FLNC):c.6134G>A (p.Arg2045Gln)
|
rs747196571
|
|
NM_001458.4(FLNC):c.6135G>C (p.Arg2045=)
|
rs1585168080
|
|
NM_001458.4(FLNC):c.613G>A (p.Asp205Asn)
|
rs767740333
|
|
NM_001458.4(FLNC):c.6148G>A (p.Gly2050Arg)
|
rs1585168103
|
|
NM_001458.4(FLNC):c.6149G>A (p.Gly2050Glu)
|
rs1261109029
|
|
NM_001458.4(FLNC):c.6160G>A (p.Gly2054Arg)
|
|
|
NM_001458.4(FLNC):c.6170T>C (p.Phe2057Ser)
|
rs1554400996
|
|
NM_001458.4(FLNC):c.6175G>A (p.Val2059Met)
|
rs201333104
|
|
NM_001458.4(FLNC):c.6190dup (p.Val2064fs)
|
|
|
NM_001458.4(FLNC):c.6200G>A (p.Arg2067His)
|
rs776520014
|
|
NM_001458.4(FLNC):c.6204T>C (p.Asn2068=)
|
rs756870900
|
|
NM_001458.4(FLNC):c.6208+4C>T
|
rs1554401011
|
|
NM_001458.4(FLNC):c.6209-10T>G
|
rs377551753
|
|
NM_001458.4(FLNC):c.6209-3C>G
|
rs896971028
|
|
NM_001458.4(FLNC):c.6209-4C>T
|
rs752959773
|
|
NM_001458.4(FLNC):c.6226C>T (p.Leu2076=)
|
rs756921919
|
|
NM_001458.4(FLNC):c.6242dup (p.Ser2082fs)
|
rs1585168573
|
|
NM_001458.4(FLNC):c.6246C>T (p.Ser2082=)
|
rs1554401089
|
|
NM_001458.4(FLNC):c.6252G>A (p.Val2084=)
|
rs1386646158
|
|
NM_001458.4(FLNC):c.6278A>C (p.Asp2093Ala)
|
rs749292393
|
|
NM_001458.4(FLNC):c.6279C>T (p.Asp2093=)
|
rs370386782
|
|
NM_001458.4(FLNC):c.6282G>C (p.Gly2094=)
|
rs747894981
|
|
NM_001458.4(FLNC):c.6283A>G (p.Thr2095Ala)
|
rs373022507
|
|
NM_001458.4(FLNC):c.6296C>A (p.Thr2099Asn)
|
|
|
NM_001458.4(FLNC):c.6309C>T (p.Thr2103=)
|
rs376992044
|
|
NM_001458.4(FLNC):c.6310G>A (p.Glu2104Lys)
|
rs753069149
|
|
NM_001458.4(FLNC):c.6315C>T (p.Pro2105=)
|
rs764435558
|
|
NM_001458.4(FLNC):c.6325A>G (p.Ile2109Val)
|
rs755736125
|
|
NM_001458.4(FLNC):c.6354C>T (p.His2118=)
|
rs368455239
|
|
NM_001458.4(FLNC):c.6355G>A (p.Val2119Met)
|
rs748095197
|
|
NM_001458.4(FLNC):c.6359C>G (p.Pro2120Arg)
|
|
|
NM_001458.4(FLNC):c.635A>G (p.Asn212Ser)
|
rs756723697
|
|
NM_001458.4(FLNC):c.635A>T (p.Asn212Ile)
|
rs756723697
|
|
NM_001458.4(FLNC):c.6361+9C>G
|
rs747274154
|
|
NM_001458.4(FLNC):c.6369C>T (p.Pro2123=)
|
rs752728262
|
|
NM_001458.4(FLNC):c.6374C>G (p.Thr2125Ser)
|
|
|
NM_001458.4(FLNC):c.6387C>T (p.Thr2129=)
|
rs200182180
|
|
NM_001458.4(FLNC):c.6388G>A (p.Gly2130Ser)
|
rs375778608
|
|
NM_001458.4(FLNC):c.6390C>T (p.Gly2130=)
|
rs746751083
|
|
NM_001458.4(FLNC):c.6391G>A (p.Glu2131Lys)
|
|
|
NM_001458.4(FLNC):c.6397C>T (p.Arg2133Cys)
|
rs1186464414
|
|
NM_001458.4(FLNC):c.6405G>A (p.Lys2135=)
|
rs886043826
|
|
NM_001458.4(FLNC):c.6419G>A (p.Arg2140Gln)
|
rs368662317
|
|
NM_001458.4(FLNC):c.6428A>G (p.Gln2143Arg)
|
|
|
NM_001458.4(FLNC):c.642C>T (p.Pro214=)
|
rs2291558
|
|
NM_001458.4(FLNC):c.643G>A (p.Val215Met)
|
rs754309921
|
|
NM_001458.4(FLNC):c.6441C>T (p.Ile2147=)
|
rs762017885
|
|
NM_001458.4(FLNC):c.6447del (p.Ile2150fs)
|
rs1563003153
|
|
NM_001458.4(FLNC):c.6450C>T (p.Ile2150=)
|
rs776206819
|
|
NM_001458.4(FLNC):c.6451G>A (p.Gly2151Ser)
|
|
|
NM_001458.4(FLNC):c.6451G>T (p.Gly2151Cys)
|
rs1563003159
|
|
NM_001458.4(FLNC):c.6459C>T (p.Thr2153=)
|
rs113618587
|
|
NM_001458.4(FLNC):c.6460T>A (p.Cys2154Ser)
|
rs1554401153
|
|
NM_001458.4(FLNC):c.6471C>T (p.Asn2157=)
|
rs764877771
|
|
NM_001458.4(FLNC):c.6485-8C>T
|
rs369347947
|
|
NM_001458.4(FLNC):c.6490T>C (p.Trp2164Arg)
|
|
|
NM_001458.4(FLNC):c.64C>T (p.Pro22Ser)
|
rs368812043
|
|
NM_001458.4(FLNC):c.6517C>T (p.Arg2173Cys)
|
rs767250474
|
|
NM_001458.4(FLNC):c.6526C>T (p.Arg2176Cys)
|
rs376885778
|
|
NM_001458.4(FLNC):c.652G>A (p.Ala218Thr)
|
rs777415462
|
|
NM_001458.4(FLNC):c.6530C>A (p.Thr2177Asn)
|
|
|
NM_001458.4(FLNC):c.6533T>C (p.Phe2178Ser)
|
rs1554401204
|
|
NM_001458.4(FLNC):c.6538C>T (p.Arg2180Cys)
|
rs779029827
|
|
NM_001458.4(FLNC):c.6539G>A (p.Arg2180His)
|
|
|
NM_001458.4(FLNC):c.6539G>C (p.Arg2180Pro)
|
rs1554401209
|
|
NM_001458.4(FLNC):c.6551C>G (p.Thr2184Ser)
|
rs772588219
|
|
NM_001458.4(FLNC):c.6564G>A (p.Thr2188=)
|
rs775348656
|
|
NM_001458.4(FLNC):c.6569G>A (p.Arg2190His)
|
rs762680314
|
|
NM_001458.4(FLNC):c.6572C>T (p.Thr2191Met)
|
rs768329311
|
|
NM_001458.4(FLNC):c.6573G>A (p.Thr2191=)
|
rs761680664
|
|
NM_001458.4(FLNC):c.6573G>C (p.Thr2191=)
|
rs761680664
|
|
NM_001458.4(FLNC):c.6587C>T (p.Thr2196Met)
|
|
|
NM_001458.4(FLNC):c.6590G>A (p.Arg2197Gln)
|
rs760535041
|
|
NM_001458.4(FLNC):c.6593G>A (p.Gly2198Asp)
|
rs909093665
|
|
NM_001458.4(FLNC):c.6595G>A (p.Gly2199Arg)
|
rs368977589
|
|
NM_001458.4(FLNC):c.6602C>T (p.Thr2201Ile)
|
rs1585169205
|
|
NM_001458.4(FLNC):c.6607C>T (p.Arg2203Cys)
|
|
|
NM_001458.4(FLNC):c.6608G>A (p.Arg2203His)
|
|
|
NM_001458.4(FLNC):c.661G>A (p.Ala221Thr)
|
rs1585152566
|
|
NM_001458.4(FLNC):c.6632C>T (p.Thr2211Ile)
|
|
|
NM_001458.4(FLNC):c.6639C>T (p.Val2213=)
|
rs747628268
|
|
NM_001458.4(FLNC):c.6640G>A (p.Gly2214Ser)
|
rs1431110219
|
|
NM_001458.4(FLNC):c.6642C>T (p.Gly2214=)
|
rs546247674
|
|
NM_001458.4(FLNC):c.6648C>T (p.Asp2216=)
|
rs1362841989
|
|
NM_001458.4(FLNC):c.6659C>T (p.Ala2220Val)
|
rs370839908
|
|
NM_001458.4(FLNC):c.6665T>C (p.Phe2222Ser)
|
rs1554401281
|
|
NM_001458.4(FLNC):c.6683G>A (p.Arg2228Gln)
|
rs765438770
|
|
NM_001458.4(FLNC):c.6689G>A (p.Arg2230His)
|
rs376035195
|
|
NM_001458.4(FLNC):c.6689G>T (p.Arg2230Leu)
|
rs376035195
|
|
NM_001458.4(FLNC):c.66G>A (p.Pro22=)
|
rs1585147676
|
|
NM_001458.4(FLNC):c.6702C>T (p.Phe2234=)
|
rs370589662
|
|
NM_001458.4(FLNC):c.6708C>T (p.Ser2236=)
|
rs757805510
|
|
NM_001458.4(FLNC):c.6711C>G (p.Ile2237Met)
|
rs781708543
|
|
NM_001458.4(FLNC):c.6714C>T (p.Thr2238=)
|
rs10268251
|
|
NM_001458.4(FLNC):c.6715C>T (p.Arg2239Trp)
|
rs367820987
|
|
NM_001458.4(FLNC):c.6720G>A (p.Gln2240=)
|
rs371391208
|
|
NM_001458.4(FLNC):c.6724G>A (p.Glu2242Lys)
|
rs1265897548
|
|
NM_001458.4(FLNC):c.6727+3G>A
|
|
|
NM_001458.4(FLNC):c.6727+7A>G
|
rs746982412
|
|
NM_001458.4(FLNC):c.6727+9C>T
|
rs770803250
|
|
NM_001458.4(FLNC):c.6728G>A (p.Gly2243Asp)
|
|
|
NM_001458.4(FLNC):c.6748A>C (p.Met2250Leu)
|
rs923795184
|
|
NM_001458.4(FLNC):c.6753dup (p.Ala2252fs)
|
|
|
NM_001458.4(FLNC):c.6754G>A (p.Ala2252Thr)
|
rs963272191
|
|
NM_001458.4(FLNC):c.676G>A (p.Asp226Asn)
|
rs745775171
|
|
NM_001458.4(FLNC):c.6771A>G (p.Pro2257=)
|
rs34422412
|
|
NM_001458.4(FLNC):c.6777C>A (p.Gly2259=)
|
rs1057161787
|
|
NM_001458.4(FLNC):c.6779A>G (p.Lys2260Arg)
|
rs751019991
|
|
NM_001458.4(FLNC):c.678C>T (p.Asp226=)
|
rs769791248
|
|
NM_001458.4(FLNC):c.6799G>A (p.Val2267Ile)
|
rs758080422
|
|
NM_001458.4(FLNC):c.6801C>T (p.Val2267=)
|
rs768689551
|
|
NM_001458.4(FLNC):c.6808G>A (p.Glu2270Lys)
|
rs202223616
|
|
NM_001458.4(FLNC):c.6810G>A (p.Glu2270=)
|
rs745858001
|
|
NM_001458.4(FLNC):c.6816C>T (p.Ser2272=)
|
rs375139827
|
|
NM_001458.4(FLNC):c.6817G>A (p.Ala2273Thr)
|
rs372251350
|
|
NM_001458.4(FLNC):c.6825C>T (p.Ser2275=)
|
rs748970432
|
|
NM_001458.4(FLNC):c.6830G>A (p.Arg2277His)
|
|
|
NM_001458.4(FLNC):c.6849G>A (p.Met2283Ile)
|
rs1375490850
|
|
NM_001458.4(FLNC):c.6861G>A (p.Thr2287=)
|
rs773130088
|
|
NM_001458.4(FLNC):c.6864C>T (p.Val2288=)
|
rs761269440
|
|
NM_001458.4(FLNC):c.6865G>A (p.Ala2289Thr)
|
rs766740877
|
|
NM_001458.4(FLNC):c.6878G>A (p.Arg2293His)
|
rs1034483511
|
|
NM_001458.4(FLNC):c.6883C>T (p.Gln2295Ter)
|
rs1585169831
|
|
NM_001458.4(FLNC):c.6888C>T (p.His2296=)
|
rs375259002
|
|
NM_001458.4(FLNC):c.6889G>A (p.Val2297Met)
|
rs1420394583
|
|
NM_001458.4(FLNC):c.6893C>T (p.Pro2298Leu)
|
rs1382734231
|
|
NM_001458.4(FLNC):c.6895G>A (p.Gly2299Ser)
|
rs756870838
|
|
NM_001458.4(FLNC):c.690G>A (p.Gly230=)
|
rs775254295
|
|
NM_001458.4(FLNC):c.6923C>T (p.Pro2308Leu)
|
rs369250297
|
|
NM_001458.4(FLNC):c.6953G>A (p.Arg2318Gln)
|
rs749235580
|
|
NM_001458.4(FLNC):c.6957C>T (p.Ala2319=)
|
rs553639480
|
|
NM_001458.4(FLNC):c.6958G>A (p.Gly2320Arg)
|
rs867808948
|
|
NM_001458.4(FLNC):c.6976C>T (p.Arg2326Ter)
|
rs748416758
|
|
NM_001458.4(FLNC):c.6977G>A (p.Arg2326Gln)
|
rs201028676
|
|
NM_001458.4(FLNC):c.697C>T (p.Gln233Ter)
|
rs1554397464
|
|
NM_001458.4(FLNC):c.6986C>G (p.Ala2329Gly)
|
rs746991573
|
|
NM_001458.4(FLNC):c.6987C>T (p.Ala2329=)
|
rs771037016
|
|
NM_001458.4(FLNC):c.6988G>A (p.Gly2330Ser)
|
rs527248119
|
|
NM_001458.4(FLNC):c.699+1G>A
|
rs1562991776
|
|
NM_001458.4(FLNC):c.699+9G>A
|
rs749055253
|
|
NM_001458.4(FLNC):c.6991G>A (p.Val2331Met)
|
rs191288058
|
|
NM_001458.4(FLNC):c.6997+1G>T
|
rs1585169973
|
|
NM_001458.4(FLNC):c.6997+4A>G
|
rs1227552125
|
|
NM_001458.4(FLNC):c.6998-10C>T
|
rs1427937152
|
|
NM_001458.4(FLNC):c.6998-5C>T
|
rs139030003
|
|
NM_001458.4(FLNC):c.6998-6C>G
|
|
|
NM_001458.4(FLNC):c.700-5C>T
|
rs745442558
|
|
NM_001458.4(FLNC):c.7000G>A (p.Glu2334Lys)
|
|
|
NM_001458.4(FLNC):c.7016C>T (p.Thr2339Ile)
|
rs1554401463
|
|
NM_001458.4(FLNC):c.7029C>T (p.Gly2343=)
|
rs770236960
|
|
NM_001458.4(FLNC):c.7038C>A (p.Gly2346=)
|
rs763377116
|
|
NM_001458.4(FLNC):c.7041G>A (p.Leu2347=)
|
rs772789448
|
|
NM_001458.4(FLNC):c.7047T>C (p.Ile2349=)
|
rs760345428
|
|
NM_001458.4(FLNC):c.7070_7072del (p.Ala2357del)
|
rs1554401479
|
|
NM_001458.4(FLNC):c.7075A>G (p.Ile2359Val)
|
rs1554401481
|
|
NM_001458.4(FLNC):c.7078G>A (p.Ala2360Thr)
|
rs1390516682
|
|
NM_001458.4(FLNC):c.7080A>G (p.Ala2360=)
|
rs1554401489
|
|
NM_001458.4(FLNC):c.7090C>A (p.Arg2364Ser)
|
rs374973240
|
|
NM_001458.4(FLNC):c.7090C>T (p.Arg2364Cys)
|
rs374973240
|
|
NM_001458.4(FLNC):c.7091G>A (p.Arg2364His)
|
rs201672146
|
|
NM_001458.4(FLNC):c.7094A>G (p.Lys2365Arg)
|
rs751765487
|
|
NM_001458.4(FLNC):c.7104C>T (p.Ser2368=)
|
rs1585170155
|
|
NM_001458.4(FLNC):c.7107C>T (p.Cys2369=)
|
rs781154278
|
|
NM_001458.4(FLNC):c.7108G>A (p.Gly2370Ser)
|
rs201917318
|
|
NM_001458.4(FLNC):c.7110C>A (p.Gly2370=)
|
rs770288312
|
|
NM_001458.4(FLNC):c.7111G>A (p.Val2371Ile)
|
rs552252122
|
|
NM_001458.4(FLNC):c.7122C>T (p.Val2374=)
|
rs374711133
|
|
NM_001458.4(FLNC):c.7123G>A (p.Val2375Ile)
|
rs768941858
|
|
NM_001458.4(FLNC):c.7135+7G>A
|
rs760271102
|
|
NM_001458.4(FLNC):c.7136-10C>G
|
rs982485834
|
|
NM_001458.4(FLNC):c.7136-4C>T
|
|
|
NM_001458.4(FLNC):c.7136-6C>A
|
rs368292177
|
|
NM_001458.4(FLNC):c.7138G>C (p.Asp2380His)
|
rs1334300883
|
|
NM_001458.4(FLNC):c.7146G>A (p.Glu2382=)
|
rs779162678
|
|
NM_001458.4(FLNC):c.7158G>A (p.Lys2386=)
|
rs1554401556
|
|
NM_001458.4(FLNC):c.7171C>T (p.His2391Tyr)
|
rs1554401558
|
|
NM_001458.4(FLNC):c.7176C>G (p.Ile2392Met)
|
rs1585170543
|
|
NM_001458.4(FLNC):c.7177C>G (p.Pro2393Ala)
|
rs1554401559
|
|
NM_001458.4(FLNC):c.7180G>C (p.Asp2394His)
|
rs1554401561
|
|
NM_001458.4(FLNC):c.7185C>T (p.Ser2395=)
|
rs199880128
|
|
NM_001458.4(FLNC):c.7198C>G (p.Pro2400Ala)
|
rs1390223951
|
|
NM_001458.4(FLNC):c.720T>C (p.Ile240=)
|
rs2291560
|
|
NM_001458.4(FLNC):c.7215G>A (p.Ser2405=)
|
rs774019775
|
|
NM_001458.4(FLNC):c.7221C>T (p.Asp2407=)
|
rs3816885
|
|
NM_001458.4(FLNC):c.7222G>A (p.Ala2408Thr)
|
rs376257910
|
|
NM_001458.4(FLNC):c.7226G>A (p.Arg2409His)
|
rs767279710
|
|
NM_001458.4(FLNC):c.7229G>A (p.Arg2410His)
|
rs558239439
|
|
NM_001458.4(FLNC):c.7251+1G>A
|
rs1554401581
|
|
NM_001458.4(FLNC):c.7251+1G>T
|
|
|
NM_001458.4(FLNC):c.7256C>T (p.Thr2419Met)
|
rs199768217
|
|
NM_001458.4(FLNC):c.7257G>A (p.Thr2419=)
|
rs201008333
|
|
NM_001458.4(FLNC):c.7260G>A (p.Gly2420=)
|
rs755831714
|
|
NM_001458.4(FLNC):c.7280C>T (p.Ala2427Val)
|
rs1343869103
|
|
NM_001458.4(FLNC):c.7281G>A (p.Ala2427=)
|
rs186451916
|
|
NM_001458.4(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
|
NM_001458.4(FLNC):c.7290C>T (p.Ala2430=)
|
rs373240622
|
|
NM_001458.4(FLNC):c.7291G>A (p.Val2431Met)
|
rs572952653
|
|
NM_001458.4(FLNC):c.7294C>T (p.Gln2432Ter)
|
rs1554401756
|
|
NM_001458.4(FLNC):c.7299G>A (p.Leu2433=)
|
rs772998551
|
|
NM_001458.4(FLNC):c.7302C>T (p.Asn2434=)
|
rs760533029
|
|
NM_001458.4(FLNC):c.7309C>T (p.Arg2437Trp)
|
rs756353876
|
|
NM_001458.4(FLNC):c.7310G>A (p.Arg2437Gln)
|
rs201762568
|
|
NM_001458.4(FLNC):c.7313_7330dup (p.Gly2438_Arg2443dup)
|
rs1554401762
|
|
NM_001458.4(FLNC):c.7314C>T (p.Gly2438=)
|
rs765385925
|
|
NM_001458.4(FLNC):c.7319T>C (p.Ile2440Thr)
|
rs764628080
|
|
NM_001458.4(FLNC):c.731A>G (p.Asn244Ser)
|
rs773579752
|
|
NM_001458.4(FLNC):c.7327C>T (p.Arg2443Trp)
|
rs1585171621
|
|
NM_001458.4(FLNC):c.7328G>A (p.Arg2443Gln)
|
rs370293647
|
|
NM_001458.4(FLNC):c.732C>T (p.Asn244=)
|
rs566461523
|
|
NM_001458.4(FLNC):c.7339C>A (p.Pro2447Thr)
|
rs1554401770
|
|
NM_001458.4(FLNC):c.7343C>T (p.Ser2448Leu)
|
|
|
NM_001458.4(FLNC):c.7344G>A (p.Ser2448=)
|
rs376251952
|
|
NM_001458.4(FLNC):c.7353G>A (p.Val2451=)
|
rs368607789
|
|
NM_001458.4(FLNC):c.7364A>G (p.Tyr2455Cys)
|
rs769298304
|
|
NM_001458.4(FLNC):c.7365C>A (p.Tyr2455Ter)
|
rs540386120
|
|
NM_001458.4(FLNC):c.7366G>A (p.Val2456Ile)
|
rs770796119
|
|
NM_001458.4(FLNC):c.7371del (p.Glu2458fs)
|
rs1554401780
|
|
NM_001458.4(FLNC):c.7382G>A (p.Ser2461Asn)
|
rs550547714
|
|
NM_001458.4(FLNC):c.7385-10T>C
|
rs1585171813
|
|
NM_001458.4(FLNC):c.7385-5C>T
|
rs367793265
|
|
NM_001458.4(FLNC):c.7390C>G (p.His2464Asp)
|
rs1269055454
|
|
NM_001458.4(FLNC):c.7399C>T (p.Arg2467Cys)
|
rs1278916117
|
|
NM_001458.4(FLNC):c.7400G>A (p.Arg2467His)
|
rs775910704
|
|
NM_001458.4(FLNC):c.7413C>T (p.His2471=)
|
rs774524427
|
|
NM_001458.4(FLNC):c.7423G>A (p.Val2475Ile)
|
rs191224002
|
|
NM_001458.4(FLNC):c.7432A>G (p.Ile2478Val)
|
rs1430261045
|
|
NM_001458.4(FLNC):c.7434C>T (p.Ile2478=)
|
rs773767211
|
|
NM_001458.4(FLNC):c.7440C>T (p.Val2480=)
|
rs1585171905
|
|
NM_001458.4(FLNC):c.7443G>A (p.Lys2481=)
|
rs1457672866
|
|
NM_001458.4(FLNC):c.7449C>T (p.Asn2483=)
|
rs761006044
|
|
NM_001458.4(FLNC):c.7450G>A (p.Gly2484Ser)
|
rs778922568
|
|
NM_001458.4(FLNC):c.7455C>G (p.Ala2485=)
|
rs1554401819
|
|
NM_001458.4(FLNC):c.7462C>T (p.Pro2488Ser)
|
rs1563005191
|
|
NM_001458.4(FLNC):c.7484G>A (p.Arg2495His)
|
rs757219498
|
|
NM_001458.4(FLNC):c.7485C>T (p.Arg2495=)
|
rs781056503
|
|
NM_001458.4(FLNC):c.7487T>C (p.Val2496Ala)
|
|
|
NM_001458.4(FLNC):c.7496_7497insTGCT (p.Gln2499fs)
|
rs1554401830
|
|
NM_001458.4(FLNC):c.7499G>A (p.Ser2500Asn)
|
rs371244800
|
|
NM_001458.4(FLNC):c.7529C>T (p.Ala2510Val)
|
|
|
NM_001458.4(FLNC):c.7533C>T (p.Tyr2511=)
|
rs376806697
|
|
NM_001458.4(FLNC):c.7536_7548del (p.Pro2513fs)
|
rs1554401837
|
|
NM_001458.4(FLNC):c.7545C>T (p.Leu2515=)
|
rs369791058
|
|
NM_001458.4(FLNC):c.7546G>A (p.Glu2516Lys)
|
rs373691962
|
|
NM_001458.4(FLNC):c.7551A>G (p.Gly2517=)
|
rs1283157933
|
|
NM_001458.4(FLNC):c.7560C>T (p.Thr2520=)
|
rs527921534
|
|
NM_001458.4(FLNC):c.7562-5C>T
|
rs773923745
|
|
NM_001458.4(FLNC):c.7564G>A (p.Val2522Met)
|
|
|
NM_001458.4(FLNC):c.7580T>C (p.Ile2527Thr)
|
rs749891076
|
|
NM_001458.4(FLNC):c.7604C>T (p.Ser2535Leu)
|
rs201895675
|
|
NM_001458.4(FLNC):c.7605G>A (p.Ser2535=)
|
rs777724201
|
|
NM_001458.4(FLNC):c.7606G>A (p.Gly2536Arg)
|
|
|
NM_001458.4(FLNC):c.7610C>A (p.Ala2537Asp)
|
rs1394723230
|
|
NM_001458.4(FLNC):c.7614G>T (p.Leu2538Phe)
|
rs180834558
|
|
NM_001458.4(FLNC):c.7618G>C (p.Val2540Leu)
|
rs746349463
|
|
NM_001458.4(FLNC):c.7626T>C (p.Ile2542=)
|
rs1554401890
|
|
NM_001458.4(FLNC):c.7626T>G (p.Ile2542Met)
|
rs1554401890
|
|
NM_001458.4(FLNC):c.7629T>C (p.Asp2543=)
|
rs1451167404
|
|
NM_001458.4(FLNC):c.7632C>T (p.Gly2544=)
|
rs1297781614
|
|
NM_001458.4(FLNC):c.7636T>A (p.Ser2546Thr)
|
rs200673841
|
|
NM_001458.4(FLNC):c.7647G>T (p.Gln2549His)
|
|
|
NM_001458.4(FLNC):c.7648C>T (p.Leu2550=)
|
rs1585172378
|
|
NM_001458.4(FLNC):c.7651G>C (p.Asp2551His)
|
rs1187923021
|
|
NM_001458.4(FLNC):c.7657C>T (p.Arg2553Trp)
|
rs199519281
|
|
NM_001458.4(FLNC):c.7658G>A (p.Arg2553Gln)
|
rs375213102
|
|
NM_001458.4(FLNC):c.7659G>C (p.Arg2553=)
|
rs1490653520
|
|
NM_001458.4(FLNC):c.7660del (p.Glu2554fs)
|
|
|
NM_001458.4(FLNC):c.7664G>C (p.Cys2555Ser)
|
rs1585172407
|
|
NM_001458.4(FLNC):c.7677T>C (p.His2559=)
|
rs200760961
|
|
NM_001458.4(FLNC):c.7679T>C (p.Val2560Ala)
|
rs931678640
|
|
NM_001458.4(FLNC):c.7693C>T (p.Pro2565Ser)
|
rs1554401906
|
|
NM_001458.4(FLNC):c.76A>G (p.Lys26Glu)
|
rs1562988843
|
|
NM_001458.4(FLNC):c.7727A>C (p.Lys2576Thr)
|
rs1554401912
|
|
NM_001458.4(FLNC):c.7732G>A (p.Gly2578Ser)
|
rs566747845
|
|
NM_001458.4(FLNC):c.774del (p.Lys259fs)
|
rs1554397506
|
|
NM_001458.4(FLNC):c.7755C>T (p.Gly2585=)
|
rs746404471
|
|
NM_001458.4(FLNC):c.7780+10A>G
|
rs201149834
|
|
NM_001458.4(FLNC):c.7780+1G>A
|
rs1563005607
|
|
NM_001458.4(FLNC):c.7781-3C>T
|
rs1444704657
|
|
NM_001458.4(FLNC):c.7781-9A>G
|
rs531760477
|
|
NM_001458.4(FLNC):c.7784C>T (p.Pro2595Leu)
|
rs756144972
|
|
NM_001458.4(FLNC):c.7794C>T (p.Ser2598=)
|
rs1013763254
|
|
NM_001458.4(FLNC):c.7803C>T (p.His2601=)
|
rs749737805
|
|
NM_001458.4(FLNC):c.7813G>A (p.Glu2605Lys)
|
rs1480530077
|
|
NM_001458.4(FLNC):c.7823C>T (p.Thr2608Met)
|
rs1175931652
|
|
NM_001458.4(FLNC):c.7830G>C (p.Leu2610=)
|
rs1032374300
|
|
NM_001458.4(FLNC):c.7834G>A (p.Glu2612Lys)
|
rs1183050599
|
|
NM_001458.4(FLNC):c.7861C>T (p.Arg2621Trp)
|
rs1411832198
|
|
NM_001458.4(FLNC):c.7862G>A (p.Arg2621Gln)
|
rs201636548
|
|
NM_001458.4(FLNC):c.7875C>T (p.Tyr2625=)
|
rs373614270
|
|
NM_001458.4(FLNC):c.7877G>A (p.Ser2626Asn)
|
rs2639142
|
|
NM_001458.4(FLNC):c.7903G>A (p.Ala2635Thr)
|
rs1009545372
|
|
NM_001458.4(FLNC):c.7906A>T (p.Ser2636Cys)
|
rs1563005954
|
|
NM_001458.4(FLNC):c.7922G>A (p.Arg2641Gln)
|
rs760857362
|
|
NM_001458.4(FLNC):c.7929del (p.Leu2645fs)
|
rs1554402015
|
|
NM_001458.4(FLNC):c.7933C>T (p.Leu2645=)
|
rs571671091
|
|
NM_001458.4(FLNC):c.7947C>T (p.Phe2649=)
|
rs368849358
|
|
NM_001458.4(FLNC):c.7948G>A (p.Val2650Met)
|
rs372172779
|
|
NM_001458.4(FLNC):c.795T>C (p.Gly265=)
|
rs2291561
|
|
NM_001458.4(FLNC):c.7971C>T (p.Thr2657=)
|
rs758833148
|
|
NM_001458.4(FLNC):c.7972G>A (p.Val2658Met)
|
rs1269145751
|
|
NM_001458.4(FLNC):c.7990+10G>A
|
rs745488329
|
|
NM_001458.4(FLNC):c.7990+9C>T
|
rs566679569
|
|
NM_001458.4(FLNC):c.7991-4C>G
|
rs1303400196
|
|
NM_001458.4(FLNC):c.8003T>C (p.Met2668Thr)
|
rs200502811
|
|
NM_001458.4(FLNC):c.8013C>T (p.Gly2671=)
|
rs369678123
|
|
NM_001458.4(FLNC):c.8019C>G (p.His2673Gln)
|
rs112180788
|
|
NM_001458.4(FLNC):c.8019C>T (p.His2673=)
|
rs112180788
|
|
NM_001458.4(FLNC):c.8020G>A (p.Gly2674Ser)
|
rs372338218
|
|
NM_001458.4(FLNC):c.8047T>A (p.Tyr2683Asn)
|
|
|
NM_001458.4(FLNC):c.8049C>T (p.Tyr2683=)
|
rs183104951
|
|
NM_001458.4(FLNC):c.8051T>C (p.Val2684Ala)
|
rs1585173265
|
|
NM_001458.4(FLNC):c.8059A>G (p.Met2687Val)
|
|
|
NM_001458.4(FLNC):c.805C>T (p.Arg269Ter)
|
rs755583250
|
|
NM_001458.4(FLNC):c.8069G>A (p.Arg2690Gln)
|
rs1585173273
|
|
NM_001458.4(FLNC):c.806G>A (p.Arg269Gln)
|
rs1585152863
|
|
NM_001458.4(FLNC):c.8070G>T (p.Arg2690=)
|
rs373087529
|
|
NM_001458.4(FLNC):c.8079T>C (p.Asn2693=)
|
rs376051052
|
|
NM_001458.4(FLNC):c.8080G>A (p.Val2694Ile)
|
rs765388755
|
|
NM_001458.4(FLNC):c.8089A>G (p.Thr2697Ala)
|
rs1292665355
|
|
NM_001458.4(FLNC):c.8091T>C (p.Thr2697=)
|
rs369131204
|
|
NM_001458.4(FLNC):c.8107del (p.Asp2703fs)
|
rs1563006160
|
|
NM_001458.4(FLNC):c.8113A>C (p.Ile2705Leu)
|
|
|
NM_001458.4(FLNC):c.8114T>C (p.Ile2705Thr)
|
|
|
NM_001458.4(FLNC):c.8118C>T (p.Leu2706=)
|
rs28379666
|
|
NM_001458.4(FLNC):c.8121T>C (p.Ile2707=)
|
rs28437296
|
|
NM_001458.4(FLNC):c.8121T>G (p.Ile2707Met)
|
|
|
NM_001458.4(FLNC):c.8140dup (p.Ser2714fs)
|
rs1554402084
|
|
NM_001458.4(FLNC):c.8145C>T (p.Val2715=)
|
rs746842532
|
|
NM_001458.4(FLNC):c.8156C>T (p.Pro2719Leu)
|
rs1585173375
|
|
NM_001458.4(FLNC):c.8175T>G (p.Pro2725=)
|
rs374175186
|
|
NM_001458.4(FLNC):c.8178A>G (p.Ter2726Trp)
|
rs1563006225
|
|
NM_001458.4(FLNC):c.81C>A (p.Asp27Glu)
|
|
|
NM_001458.4(FLNC):c.824C>T (p.Pro275Leu)
|
rs1249075788
|
|
NM_001458.4(FLNC):c.850+4T>G
|
|
|
NM_001458.4(FLNC):c.851-4G>A
|
rs372747855
|
|
NM_001458.4(FLNC):c.851-4G>C
|
rs372747855
|
|
NM_001458.4(FLNC):c.851-5C>T
|
rs758216356
|
|
NM_001458.4(FLNC):c.851-7C>A
|
rs576908770
|
|
NM_001458.4(FLNC):c.856G>C (p.Glu286Gln)
|
rs1274480597
|
|
NM_001458.4(FLNC):c.874G>A (p.Val292Met)
|
rs1275499234
|
|
NM_001458.4(FLNC):c.874G>T (p.Val292Leu)
|
rs1275499234
|
|
NM_001458.4(FLNC):c.882G>A (p.Gln294=)
|
rs1220464040
|
|
NM_001458.4(FLNC):c.896C>T (p.Thr299Ile)
|
|
|
NM_001458.4(FLNC):c.896_897delinsTT (p.Thr299Ile)
|
rs1562992080
|
|
NM_001458.4(FLNC):c.898G>A (p.Val300Met)
|
|
|
NM_001458.4(FLNC):c.904A>G (p.Thr302Ala)
|
rs1410531577
|
|
NM_001458.4(FLNC):c.905C>T (p.Thr302Met)
|
|
|
NM_001458.4(FLNC):c.907G>A (p.Val303Met)
|
rs1554397562
|
|
NM_001458.4(FLNC):c.912C>T (p.Asp304=)
|
rs201239973
|
|
NM_001458.4(FLNC):c.919G>A (p.Val307Met)
|
rs763968152
|
|
NM_001458.4(FLNC):c.924C>T (p.Gly308=)
|
rs541392206
|
|
NM_001458.4(FLNC):c.925G>A (p.Glu309Lys)
|
rs781212262
|
|
NM_001458.4(FLNC):c.949C>A (p.Pro317Thr)
|
rs1562992145
|
|
NM_001458.4(FLNC):c.964G>T (p.Glu322Ter)
|
|
|
NM_001458.4(FLNC):c.967G>A (p.Glu323Lys)
|
rs1562992158
|
|
NM_001458.4(FLNC):c.969+4T>G
|
rs953435954
|
|
NM_001458.4(FLNC):c.96G>A (p.Ala32=)
|
rs368239688
|
|
NM_001458.4(FLNC):c.970-4A>G
|
rs532143625
|
|
NM_001458.4(FLNC):c.970-5A>G
|
rs199755800
|
|
NM_001458.4(FLNC):c.992A>G (p.Asp331Gly)
|
|
|
NM_001458.5(FLNC):c.1007A>G (p.Tyr336Cys)
|
|
|
NM_001458.5(FLNC):c.1019A>G (p.Tyr340Cys)
|
|
|
NM_001458.5(FLNC):c.1047+1G>A
|
|
|
NM_001458.5(FLNC):c.1047+1G>T
|
|
|
NM_001458.5(FLNC):c.1048-9G>A
|
|
|
NM_001458.5(FLNC):c.1048-9G>T
|
|
|
NM_001458.5(FLNC):c.1059C>G (p.Leu353=)
|
|
|
NM_001458.5(FLNC):c.1059C>T (p.Leu353=)
|
|
|
NM_001458.5(FLNC):c.1066G>A (p.Gly356Ser)
|
|
|
NM_001458.5(FLNC):c.1074C>T (p.Asn358=)
|
|
|
NM_001458.5(FLNC):c.1089C>T (p.Pro363=)
|
|
|
NM_001458.5(FLNC):c.108G>A (p.Lys36=)
|
|
|
NM_001458.5(FLNC):c.1097T>C (p.Val366Ala)
|
|
|
NM_001458.5(FLNC):c.1123G>A (p.Ala375Thr)
|
|
|
NM_001458.5(FLNC):c.1129A>G (p.Lys377Glu)
|
|
|
NM_001458.5(FLNC):c.1131G>C (p.Lys377Asn)
|
|
|
NM_001458.5(FLNC):c.1135T>G (p.Ser379Ala)
|
|
|
NM_001458.5(FLNC):c.1141C>T (p.Arg381Cys)
|
|
|
NM_001458.5(FLNC):c.1182A>G (p.Lys394=)
|
|
|
NM_001458.5(FLNC):c.1200C>T (p.Ile400=)
|
|
|
NM_001458.5(FLNC):c.1205del (p.Thr402fs)
|
|
|
NM_001458.5(FLNC):c.1208C>A (p.Ala403Glu)
|
|
|
NM_001458.5(FLNC):c.1209G>A (p.Ala403=)
|
|
|
NM_001458.5(FLNC):c.1210+5G>A
|
|
|
NM_001458.5(FLNC):c.126C>T (p.Phe42=)
|
|
|
NM_001458.5(FLNC):c.1301G>A (p.Ser434Asn)
|
|
|
NM_001458.5(FLNC):c.1303A>G (p.Thr435Ala)
|
|
|
NM_001458.5(FLNC):c.130C>T (p.Arg44Cys)
|
|
|
NM_001458.5(FLNC):c.1311C>T (p.Arg437=)
|
|
|
NM_001458.5(FLNC):c.1332G>A (p.Met444Ile)
|
|
|
NM_001458.5(FLNC):c.1341A>G (p.Pro447=)
|
|
|
NM_001458.5(FLNC):c.1381C>T (p.Arg461Cys)
|
|
|
NM_001458.5(FLNC):c.1382G>A (p.Arg461His)
|
|
|
NM_001458.5(FLNC):c.1406C>T (p.Ser469Leu)
|
|
|
NM_001458.5(FLNC):c.1407G>A (p.Ser469=)
|
|
|
NM_001458.5(FLNC):c.1411+10C>G
|
|
|
NM_001458.5(FLNC):c.1412-3del
|
|
|
NM_001458.5(FLNC):c.1412-8T>G
|
|
|
NM_001458.5(FLNC):c.1432C>T (p.Arg478Cys)
|
|
|
NM_001458.5(FLNC):c.1437C>T (p.Ala479=)
|
|
|
NM_001458.5(FLNC):c.146_147insT (p.Leu50fs)
|
|
|
NM_001458.5(FLNC):c.152A>G (p.Lys51Arg)
|
|
|
NM_001458.5(FLNC):c.1536G>A (p.Thr512=)
|
|
|
NM_001458.5(FLNC):c.156dup (p.Val53fs)
|
|
|
NM_001458.5(FLNC):c.1599C>T (p.Phe533=)
|
|
|
NM_001458.5(FLNC):c.1603T>G (p.Cys535Gly)
|
|
|
NM_001458.5(FLNC):c.1609T>G (p.Tyr537Asp)
|
|
|
NM_001458.5(FLNC):c.1617G>C (p.Pro539=)
|
|
|
NM_001458.5(FLNC):c.1618G>T (p.Val540Leu)
|
|
|
NM_001458.5(FLNC):c.161G>A (p.Gly54Asp)
|
|
|
NM_001458.5(FLNC):c.161G>T (p.Gly54Val)
|
|
|
NM_001458.5(FLNC):c.1641G>C (p.Val547=)
|
|
|
NM_001458.5(FLNC):c.1670del (p.Pro557fs)
|
|
|
NM_001458.5(FLNC):c.1672C>T (p.Arg558Cys)
|
|
|
NM_001458.5(FLNC):c.1676+9C>T
|
|
|
NM_001458.5(FLNC):c.1688T>C (p.Val563Ala)
|
|
|
NM_001458.5(FLNC):c.1712T>C (p.Val571Ala)
|
|
|
NM_001458.5(FLNC):c.1724G>C (p.Arg575Pro)
|
|
|
NM_001458.5(FLNC):c.1735C>A (p.Pro579Thr)
|
|
|
NM_001458.5(FLNC):c.1749T>C (p.Thr583=)
|
|
|
NM_001458.5(FLNC):c.179T>A (p.Leu60Gln)
|
|
|
NM_001458.5(FLNC):c.1800G>A (p.Glu600=)
|
|
|
NM_001458.5(FLNC):c.1809A>G (p.Thr603=)
|
|
|
NM_001458.5(FLNC):c.1814-3C>G
|
|
|
NM_001458.5(FLNC):c.1814-7G>A
|
|
|
NM_001458.5(FLNC):c.1816T>G (p.Phe606Val)
|
|
|
NM_001458.5(FLNC):c.181C>T (p.Gln61Ter)
|
|
|
NM_001458.5(FLNC):c.1822A>G (p.Ile608Val)
|
|
|
NM_001458.5(FLNC):c.1840G>A (p.Ala614Thr)
|
|
|
NM_001458.5(FLNC):c.1848C>T (p.Ile616=)
|
|
|
NM_001458.5(FLNC):c.1851A>T (p.Glu617Asp)
|
|
|
NM_001458.5(FLNC):c.1857C>G (p.Asp619Glu)
|
|
|
NM_001458.5(FLNC):c.1858G>A (p.Asp620Asn)
|
|
|
NM_001458.5(FLNC):c.1867G>A (p.Asp623Asn)
|
|
|
NM_001458.5(FLNC):c.1893G>A (p.Trp631Ter)
|
|
|
NM_001458.5(FLNC):c.1893G>C (p.Trp631Cys)
|
|
|
NM_001458.5(FLNC):c.1908G>A (p.Gly636=)
|
|
|
NM_001458.5(FLNC):c.1914C>G (p.Tyr638Ter)
|
|
|
NM_001458.5(FLNC):c.1953C>T (p.Asp651=)
|
|
|
NM_001458.5(FLNC):c.1958C>T (p.Pro653Leu)
|
|
|
NM_001458.5(FLNC):c.1963A>G (p.Ile655Val)
|
|
|
NM_001458.5(FLNC):c.198C>T (p.Asp66=)
|
|
|
NM_001458.5(FLNC):c.1991_1994del (p.Asp664fs)
|
|
|
NM_001458.5(FLNC):c.2008-5C>T
|
|
|
NM_001458.5(FLNC):c.2008-6G>A
|
|
|
NM_001458.5(FLNC):c.200G>T (p.Gly67Val)
|
|
|
NM_001458.5(FLNC):c.2022G>A (p.Gly674=)
|
|
|
NM_001458.5(FLNC):c.2035C>T (p.Pro679Ser)
|
|
|
NM_001458.5(FLNC):c.204C>G (p.Leu68=)
|
|
|
NM_001458.5(FLNC):c.2050G>A (p.Val684Met)
|
|
|
NM_001458.5(FLNC):c.2061C>A (p.Pro687=)
|
|
|
NM_001458.5(FLNC):c.2062G>A (p.Ala688Thr)
|
|
|
NM_001458.5(FLNC):c.2072C>T (p.Thr691Ile)
|
|
|
NM_001458.5(FLNC):c.2081C>T (p.Ala694Val)
|
|
|
NM_001458.5(FLNC):c.2084G>A (p.Arg695His)
|
|
|
NM_001458.5(FLNC):c.2084del (p.Arg695fs)
|
|
|
NM_001458.5(FLNC):c.2092G>A (p.Gly698Ser)
|
|
|
NM_001458.5(FLNC):c.2114A>C (p.Tyr705Ser)
|
|
|
NM_001458.5(FLNC):c.2121+9T>C
|
|
|
NM_001458.5(FLNC):c.2124C>A (p.Asp708Glu)
|
|
|
NM_001458.5(FLNC):c.2127C>T (p.Ala709=)
|
|
|
NM_001458.5(FLNC):c.2139C>G (p.Pro713=)
|
|
|
NM_001458.5(FLNC):c.213C>T (p.Ile71=)
|
|
|
NM_001458.5(FLNC):c.2155A>T (p.Ile719Phe)
|
|
|
NM_001458.5(FLNC):c.2167G>A (p.Asp723Asn)
|
|
|
NM_001458.5(FLNC):c.2168A>T (p.Asp723Val)
|
|
|
NM_001458.5(FLNC):c.2175C>G (p.Thr725=)
|
|
|
NM_001458.5(FLNC):c.2179C>T (p.Arg727Cys)
|
|
|
NM_001458.5(FLNC):c.2191G>A (p.Val731Met)
|
|
|
NM_001458.5(FLNC):c.2202G>A (p.Lys734=)
|
|
|
NM_001458.5(FLNC):c.2202G>C (p.Lys734Asn)
|
|
|
NM_001458.5(FLNC):c.2212C>G (p.His738Asp)
|
|
|
NM_001458.5(FLNC):c.2216C>T (p.Thr739Ile)
|
|
|
NM_001458.5(FLNC):c.2224A>G (p.Ile742Val)
|
|
|
NM_001458.5(FLNC):c.222C>G (p.Leu74=)
|
|
|
NM_001458.5(FLNC):c.2234del (p.Gly745fs)
|
|
|
NM_001458.5(FLNC):c.2239G>A (p.Val747Ile)
|
|
|
NM_001458.5(FLNC):c.2248C>G (p.Pro750Ala)
|
|
|
NM_001458.5(FLNC):c.2263C>T (p.Arg755Trp)
|
|
|
NM_001458.5(FLNC):c.2264G>A (p.Arg755Gln)
|
|
|
NM_001458.5(FLNC):c.2265+5G>A
|
|
|
NM_001458.5(FLNC):c.2265+8C>T
|
|
|
NM_001458.5(FLNC):c.2266-4G>A
|
|
|
NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser)
|
|
|
NM_001458.5(FLNC):c.2316C>G (p.Pro772=)
|
|
|
NM_001458.5(FLNC):c.2321T>C (p.Val774Ala)
|
|
|
NM_001458.5(FLNC):c.2322G>A (p.Val774=)
|
|
|
NM_001458.5(FLNC):c.2329A>G (p.Thr777Ala)
|
|
|
NM_001458.5(FLNC):c.2353A>G (p.Thr785Ala)
|
|
|
NM_001458.5(FLNC):c.2361C>G (p.Phe787Leu)
|
|
|
NM_001458.5(FLNC):c.2363C>G (p.Thr788Arg)
|
|
|
NM_001458.5(FLNC):c.2363C>T (p.Thr788Met)
|
|
|
NM_001458.5(FLNC):c.2382G>C (p.Ala794=)
|
|
|
NM_001458.5(FLNC):c.2389+5G>A
|
|
|
NM_001458.5(FLNC):c.2406C>T (p.Gly802=)
|
|
|
NM_001458.5(FLNC):c.2416G>A (p.Ala806Thr)
|
|
|
NM_001458.5(FLNC):c.241C>T (p.Arg81Cys)
|
|
|
NM_001458.5(FLNC):c.2424C>T (p.Gly808=)
|
|
|
NM_001458.5(FLNC):c.2425G>A (p.Val809Met)
|
|
|
NM_001458.5(FLNC):c.2426TGG[1] (p.Val810del)
|
rs1585157919
|
|
NM_001458.5(FLNC):c.2428G>C (p.Val810Leu)
|
|
|
NM_001458.5(FLNC):c.2432del (p.Gly811fs)
|
|
|
NM_001458.5(FLNC):c.2434C>T (p.Pro812Ser)
|
|
|
NM_001458.5(FLNC):c.2454C>T (p.Asp818=)
|
|
|
NM_001458.5(FLNC):c.2458G>A (p.Asp820Asn)
|
|
|
NM_001458.5(FLNC):c.245T>G (p.Met82Arg)
|
|
|
NM_001458.5(FLNC):c.2478C>T (p.Asn826=)
|
|
|
NM_001458.5(FLNC):c.2489C>T (p.Thr830Ile)
|
|
|
NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter)
|
|
|
NM_001458.5(FLNC):c.2508del (p.Ala838fs)
|
|
|
NM_001458.5(FLNC):c.2518C>T (p.Arg840Cys)
|
|
|
NM_001458.5(FLNC):c.2527A>T (p.Ile843Phe)
|
|
|
NM_001458.5(FLNC):c.2538G>A (p.Leu846=)
|
|
|
NM_001458.5(FLNC):c.2548C>T (p.Gln850Ter)
|
|
|
NM_001458.5(FLNC):c.2551-3C>T
|
|
|
NM_001458.5(FLNC):c.2557C>T (p.Pro853Ser)
|
|
|
NM_001458.5(FLNC):c.2582T>G (p.Val861Gly)
|
|
|
NM_001458.5(FLNC):c.2595C>T (p.His865=)
|
|
|
NM_001458.5(FLNC):c.2596G>A (p.Asp866Asn)
|
|
|
NM_001458.5(FLNC):c.2603_2604delinsT (p.Ser868fs)
|
|
|
NM_001458.5(FLNC):c.2604del (p.Ser868fs)
|
|
|
NM_001458.5(FLNC):c.261del (p.Pro88fs)
|
|
|
NM_001458.5(FLNC):c.2627G>T (p.Gly876Val)
|
|
|
NM_001458.5(FLNC):c.2639C>T (p.Thr880Ile)
|
|
|
NM_001458.5(FLNC):c.2641+7G>T
|
|
|
NM_001458.5(FLNC):c.2641+8_2641+11del
|
|
|
NM_001458.5(FLNC):c.2642-3C>T
|
|
|
NM_001458.5(FLNC):c.2652C>T (p.Val884=)
|
|
|
NM_001458.5(FLNC):c.2658G>A (p.Lys886=)
|
|
|
NM_001458.5(FLNC):c.2674G>A (p.Val892Met)
|
|
|
NM_001458.5(FLNC):c.2691C>T (p.Ala897=)
|
|
|
NM_001458.5(FLNC):c.269C>G (p.Pro90Arg)
|
|
|
NM_001458.5(FLNC):c.2710G>A (p.Val904Met)
|
|
|
NM_001458.5(FLNC):c.2724G>C (p.Gly908=)
|
|
|
NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys)
|
|
|
NM_001458.5(FLNC):c.273C>A (p.Asn91Lys)
|
|
|
NM_001458.5(FLNC):c.2769C>T (p.Asn923=)
|
|
|
NM_001458.5(FLNC):c.2772T>C (p.His924=)
|
|
|
NM_001458.5(FLNC):c.2776T>G (p.Tyr926Asp)
|
|
|
NM_001458.5(FLNC):c.2780C>A (p.Ser927Tyr)
|
|
|
NM_001458.5(FLNC):c.2780_2782del (p.Ser927del)
|
|
|
NM_001458.5(FLNC):c.2782T>C (p.Tyr928His)
|
|
|
NM_001458.5(FLNC):c.2794T>A (p.Tyr932Asn)
|
|
|
NM_001458.5(FLNC):c.2811+5G>A
|
|
|
NM_001458.5(FLNC):c.2811+6C>T
|
|
|
NM_001458.5(FLNC):c.2821G>A (p.Ala941Thr)
|
|
|
NM_001458.5(FLNC):c.2825T>C (p.Val942Ala)
|
|
|
NM_001458.5(FLNC):c.2838T>C (p.Tyr946=)
|
|
|
NM_001458.5(FLNC):c.2843G>A (p.Gly948Glu)
|
|
|
NM_001458.5(FLNC):c.2847C>A (p.Asp949Glu)
|
|
|
NM_001458.5(FLNC):c.2847C>G (p.Asp949Glu)
|
|
|
NM_001458.5(FLNC):c.2862C>G (p.Ser954Arg)
|
|
|
NM_001458.5(FLNC):c.2872del (p.Val957_Val958insTer)
|
|
|
NM_001458.5(FLNC):c.2884C>A (p.Pro962Thr)
|
|
|
NM_001458.5(FLNC):c.2888C>T (p.Pro963Leu)
|
|
|
NM_001458.5(FLNC):c.2905del (p.Ile969fs)
|
|
|
NM_001458.5(FLNC):c.290T>G (p.Leu97Arg)
|
|
|
NM_001458.5(FLNC):c.2929+10G>A
|
|
|
NM_001458.5(FLNC):c.2930-10C>T
|
|
|
NM_001458.5(FLNC):c.2930-4G>A
|
|
|
NM_001458.5(FLNC):c.2930-5C>G
|
|
|
NM_001458.5(FLNC):c.2930A>G (p.Lys977Arg)
|
|
|
NM_001458.5(FLNC):c.2934G>A (p.Val978=)
|
|
|
NM_001458.5(FLNC):c.2950C>T (p.Gln984Ter)
|
|
|
NM_001458.5(FLNC):c.2961T>C (p.Ser987=)
|
|
|
NM_001458.5(FLNC):c.2971C>A (p.Arg991=)
|
|
|
NM_001458.5(FLNC):c.2975G>A (p.Gly992Glu)
|
|
|
NM_001458.5(FLNC):c.2983G>A (p.Gly995Ser)
|
|
|
NM_001458.5(FLNC):c.3001G>A (p.Val1001Met)
|
|
|
NM_001458.5(FLNC):c.3004C>T (p.Arg1002Trp)
|
|
|
NM_001458.5(FLNC):c.3023G>A (p.Arg1008His)
|
|
|
NM_001458.5(FLNC):c.3032T>C (p.Ile1011Thr)
|
|
|
NM_001458.5(FLNC):c.3063G>A (p.Ala1021=)
|
|
|
NM_001458.5(FLNC):c.3070C>T (p.Gln1024Ter)
|
|
|
NM_001458.5(FLNC):c.3079C>T (p.Arg1027Cys)
|
|
|
NM_001458.5(FLNC):c.3093G>A (p.Pro1031=)
|
|
|
NM_001458.5(FLNC):c.3102G>T (p.Gly1034=)
|
|
|
NM_001458.5(FLNC):c.3111G>A (p.Lys1037=)
|
|
|
NM_001458.5(FLNC):c.3114G>T (p.Val1038=)
|
|
|
NM_001458.5(FLNC):c.3115G>A (p.Asp1039Asn)
|
|
|
NM_001458.5(FLNC):c.3118A>G (p.Ile1040Val)
|
|
|
NM_001458.5(FLNC):c.3126C>T (p.Tyr1042=)
|
|
|
NM_001458.5(FLNC):c.3127G>A (p.Asp1043Asn)
|
|
|
NM_001458.5(FLNC):c.3129T>C (p.Asp1043=)
|
|
|
NM_001458.5(FLNC):c.3153G>T (p.Pro1051=)
|
|
|
NM_001458.5(FLNC):c.3186C>T (p.Pro1062=)
|
|
|
NM_001458.5(FLNC):c.3193-5C>T
|
|
|
NM_001458.5(FLNC):c.3226C>T (p.Leu1076=)
|
|
|
NM_001458.5(FLNC):c.3234C>T (p.Gly1078=)
|
|
|
NM_001458.5(FLNC):c.3238C>T (p.Pro1080Ser)
|
|
|
NM_001458.5(FLNC):c.3256G>A (p.Asp1086Asn)
|
|
|
NM_001458.5(FLNC):c.3264G>A (p.Lys1088=)
|
|
|
NM_001458.5(FLNC):c.3266G>A (p.Gly1089Glu)
|
|
|
NM_001458.5(FLNC):c.3275C>A (p.Thr1092Lys)
|
|
|
NM_001458.5(FLNC):c.3278G>A (p.Gly1093Asp)
|
|
|
NM_001458.5(FLNC):c.3313G>T (p.Ala1105Ser)
|
|
|
NM_001458.5(FLNC):c.3322G>A (p.Glu1108Lys)
|
|
|
NM_001458.5(FLNC):c.3342T>C (p.Asp1114=)
|
|
|
NM_001458.5(FLNC):c.3354T>C (p.Ala1118=)
|
|
|
NM_001458.5(FLNC):c.3358A>G (p.Ser1120Gly)
|
|
|
NM_001458.5(FLNC):c.3371C>A (p.Thr1124Lys)
|
|
|
NM_001458.5(FLNC):c.3371C>T (p.Thr1124Met)
|
|
|
NM_001458.5(FLNC):c.3377C>G (p.Pro1126Arg)
|
|
|
NM_001458.5(FLNC):c.3381C>A (p.Gly1127=)
|
|
|
NM_001458.5(FLNC):c.3382G>A (p.Glu1128Lys)
|
|
|
NM_001458.5(FLNC):c.3384G>A (p.Glu1128=)
|
|
|
NM_001458.5(FLNC):c.3391A>G (p.Ile1131Val)
|
|
|
NM_001458.5(FLNC):c.3402G>C (p.Leu1134=)
|
|
|
NM_001458.5(FLNC):c.3414C>T (p.Ala1138=)
|
|
|
NM_001458.5(FLNC):c.341T>C (p.Leu114Pro)
|
|
|
NM_001458.5(FLNC):c.3431C>T (p.Pro1144Leu)
|
|
|
NM_001458.5(FLNC):c.3443C>T (p.Thr1148Ile)
|
|
|
NM_001458.5(FLNC):c.3448C>A (p.Arg1150=)
|
|
|
NM_001458.5(FLNC):c.3448C>T (p.Arg1150Trp)
|
|
|
NM_001458.5(FLNC):c.3454G>T (p.Val1152Leu)
|
|
|
NM_001458.5(FLNC):c.3463C>G (p.Pro1155Ala)
|
|
|
NM_001458.5(FLNC):c.3467G>A (p.Ser1156Asn)
|
|
|
NM_001458.5(FLNC):c.3502G>A (p.Gly1168Ser)
|
|
|
NM_001458.5(FLNC):c.3510C>G (p.Val1170=)
|
|
|
NM_001458.5(FLNC):c.3512G>A (p.Gly1171Asp)
|
|
|
NM_001458.5(FLNC):c.352+3C>T
|
|
|
NM_001458.5(FLNC):c.353-6C>T
|
|
|
NM_001458.5(FLNC):c.3539G>T (p.Cys1180Phe)
|
|
|
NM_001458.5(FLNC):c.3541T>C (p.Ser1181Pro)
|
|
|
NM_001458.5(FLNC):c.3572A>G (p.Glu1191Gly)
|
|
|
NM_001458.5(FLNC):c.3601G>C (p.Glu1201Gln)
|
|
|
NM_001458.5(FLNC):c.3606G>A (p.Val1202=)
|
|
|
NM_001458.5(FLNC):c.3621C>G (p.Asn1207Lys)
|
|
|
NM_001458.5(FLNC):c.363C>T (p.Ala121=)
|
|
|
NM_001458.5(FLNC):c.3654T>G (p.Pro1218=)
|
|
|
NM_001458.5(FLNC):c.3663T>C (p.Pro1221=)
|
|
|
NM_001458.5(FLNC):c.3670_3671dup (p.Ile1226fs)
|
|
|
NM_001458.5(FLNC):c.3692G>A (p.Gly1231Asp)
|
|
|
NM_001458.5(FLNC):c.3693_3695dup (p.Gly1232dup)
|
|
|
NM_001458.5(FLNC):c.3696G>A (p.Gly1232=)
|
|
|
NM_001458.5(FLNC):c.3702C>T (p.Pro1234=)
|
|
|
NM_001458.5(FLNC):c.3702del (p.Val1235fs)
|
|
|
NM_001458.5(FLNC):c.3706C>T (p.Pro1236Ser)
|
|
|
NM_001458.5(FLNC):c.3713T>C (p.Phe1238Ser)
|
|
|
NM_001458.5(FLNC):c.3713T>G (p.Phe1238Cys)
|
|
|
NM_001458.5(FLNC):c.3722G>A (p.Arg1241His)
|
|
|
NM_001458.5(FLNC):c.3741G>C (p.Ala1247=)
|
|
|
NM_001458.5(FLNC):c.3781G>A (p.Glu1261Lys)
|
|
|
NM_001458.5(FLNC):c.3798G>A (p.Leu1266=)
|
|
|
NM_001458.5(FLNC):c.37G>C (p.Gly13Arg)
|
|
|
NM_001458.5(FLNC):c.3805G>T (p.Val1269Leu)
|
|
|
NM_001458.5(FLNC):c.3822T>C (p.Thr1274=)
|
|
|
NM_001458.5(FLNC):c.3829G>A (p.Ala1277Thr)
|
|
|
NM_001458.5(FLNC):c.3832A>G (p.Arg1278Gly)
|
|
|
NM_001458.5(FLNC):c.384G>A (p.Lys128=)
|
|
|
NM_001458.5(FLNC):c.3851G>A (p.Gly1284Asp)
|
|
|
NM_001458.5(FLNC):c.3862G>C (p.Val1288Leu)
|
|
|
NM_001458.5(FLNC):c.3864G>A (p.Val1288=)
|
|
|
NM_001458.5(FLNC):c.3866C>T (p.Thr1289Met)
|
|
|
NM_001458.5(FLNC):c.3881A>T (p.Asn1294Ile)
|
|
|
NM_001458.5(FLNC):c.3903C>T (p.Asp1301=)
|
|
|
NM_001458.5(FLNC):c.3905_3919dup (p.Thr1302_Asp1306dup)
|
|
|
NM_001458.5(FLNC):c.3908A>T (p.Tyr1303Phe)
|
|
|
NM_001458.5(FLNC):c.3909T>C (p.Tyr1303=)
|
|
|
NM_001458.5(FLNC):c.3927C>T (p.Asp1309=)
|
|
|
NM_001458.5(FLNC):c.3956A>G (p.Tyr1319Cys)
|
|
|
NM_001458.5(FLNC):c.3957C>T (p.Tyr1319=)
|
|
|
NM_001458.5(FLNC):c.3958G>A (p.Glu1320Lys)
|
|
|
NM_001458.5(FLNC):c.3966C>A (p.Gly1322=)
|
|
|
NM_001458.5(FLNC):c.3999C>T (p.Val1333=)
|
|
|
NM_001458.5(FLNC):c.400A>G (p.Ile134Val)
|
|
|
NM_001458.5(FLNC):c.4030G>A (p.Val1344Met)
|
|
|
NM_001458.5(FLNC):c.4053C>T (p.Thr1351=)
|
|
|
NM_001458.5(FLNC):c.4055G>T (p.Arg1352Leu)
|
|
|
NM_001458.5(FLNC):c.4066T>G (p.Phe1356Val)
|
|
|
NM_001458.5(FLNC):c.407C>T (p.Thr136Met)
|
|
|
NM_001458.5(FLNC):c.4108C>G (p.Arg1370Gly)
|
|
|
NM_001458.5(FLNC):c.4117G>A (p.Val1373Met)
|
|
|
NM_001458.5(FLNC):c.4141G>T (p.Gly1381Trp)
|
|
|
NM_001458.5(FLNC):c.4145G>A (p.Gly1382Asp)
|
|
|
NM_001458.5(FLNC):c.4152C>A (p.Gly1384=)
|
|
|
NM_001458.5(FLNC):c.4159A>T (p.Ile1387Phe)
|
|
|
NM_001458.5(FLNC):c.4172C>T (p.Ser1391Leu)
|
|
|
NM_001458.5(FLNC):c.4173G>A (p.Ser1391=)
|
|
|
NM_001458.5(FLNC):c.4179C>G (p.Ala1393=)
|
|
|
NM_001458.5(FLNC):c.4202A>C (p.Lys1401Thr)
|
|
|
NM_001458.5(FLNC):c.4254C>T (p.Asp1418=)
|
|
|
NM_001458.5(FLNC):c.4255G>A (p.Val1419Ile)
|
|
|
NM_001458.5(FLNC):c.4275dup (p.Arg1426fs)
|
|
|
NM_001458.5(FLNC):c.4280C>T (p.Pro1427Leu)
|
|
|
NM_001458.5(FLNC):c.4287A>C (p.Pro1429=)
|
|
|
NM_001458.5(FLNC):c.4293C>T (p.Ser1431=)
|
|
|
NM_001458.5(FLNC):c.4329T>C (p.Pro1443=)
|
|
|
NM_001458.5(FLNC):c.4342T>C (p.Cys1448Arg)
|
|
|
NM_001458.5(FLNC):c.4350G>A (p.Gly1450=)
|
|
|
NM_001458.5(FLNC):c.4380G>T (p.Arg1460=)
|
|
|
NM_001458.5(FLNC):c.43G>A (p.Gly15Ser)
|
|
|
NM_001458.5(FLNC):c.4432C>T (p.Gln1478Ter)
|
|
|
NM_001458.5(FLNC):c.4464C>T (p.Ala1488=)
|
|
|
NM_001458.5(FLNC):c.4467G>A (p.Glu1489=)
|
|
|
NM_001458.5(FLNC):c.4468C>T (p.Pro1490Ser)
|
|
|
NM_001458.5(FLNC):c.446A>T (p.Glu149Val)
|
|
|
NM_001458.5(FLNC):c.4483G>A (p.Asp1495Asn)
|
|
|
NM_001458.5(FLNC):c.4485C>T (p.Asp1495=)
|
|
|
NM_001458.5(FLNC):c.44G>T (p.Gly15Val)
|
|
|
NM_001458.5(FLNC):c.4512C>T (p.His1504=)
|
|
|
NM_001458.5(FLNC):c.4513T>C (p.Tyr1505His)
|
|
|
NM_001458.5(FLNC):c.4517C>G (p.Thr1506Ser)
|
|
|
NM_001458.5(FLNC):c.4539C>T (p.Tyr1513=)
|
|
|
NM_001458.5(FLNC):c.4548C>T (p.Ala1516=)
|
|
|
NM_001458.5(FLNC):c.4557T>A (p.Tyr1519Ter)
|
|
|
NM_001458.5(FLNC):c.4577G>A (p.Arg1526His)
|
|
|
NM_001458.5(FLNC):c.4581-10G>A
|
|
|
NM_001458.5(FLNC):c.4605A>G (p.Pro1535=)
|
|
|
NM_001458.5(FLNC):c.4607C>T (p.Ala1536Val)
|
|
|
NM_001458.5(FLNC):c.4614T>C (p.Asp1538=)
|
|
|
NM_001458.5(FLNC):c.462G>A (p.Glu154=)
|
|
|
NM_001458.5(FLNC):c.4635C>T (p.Ser1545=)
|
|
|
NM_001458.5(FLNC):c.4644C>A (p.Gly1548=)
|
|
|
NM_001458.5(FLNC):c.4650C>T (p.Asn1550=)
|
|
|
NM_001458.5(FLNC):c.4687A>C (p.Thr1563Pro)
|
|
|
NM_001458.5(FLNC):c.4689C>A (p.Thr1563=)
|
|
|
NM_001458.5(FLNC):c.468C>A (p.Ala156=)
|
|
|
NM_001458.5(FLNC):c.4702G>A (p.Asp1568Asn)
|
|
|
NM_001458.5(FLNC):c.4718T>A (p.Leu1573Ter)
|
|
|
NM_001458.5(FLNC):c.4722C>T (p.Leu1574=)
|
|
|
NM_001458.5(FLNC):c.4737+5G>A
|
|
|
NM_001458.5(FLNC):c.4738-1G>A
|
|
|
NM_001458.5(FLNC):c.4738-7C>T
|
|
|
NM_001458.5(FLNC):c.4740C>T (p.Asp1580=)
|
|
|
NM_001458.5(FLNC):c.4742C>A (p.Pro1581His)
|
|
|
NM_001458.5(FLNC):c.4755del (p.Lys1586fs)
|
|
|
NM_001458.5(FLNC):c.4769T>G (p.Ile1590Ser)
|
|
|
NM_001458.5(FLNC):c.4772G>A (p.Arg1591Gln)
|
|
|
NM_001458.5(FLNC):c.4775A>G (p.Asp1592Gly)
|
|
|
NM_001458.5(FLNC):c.4779T>G (p.Asn1593Lys)
|
|
|
NM_001458.5(FLNC):c.4794C>A (p.Tyr1598Ter)
|
|
|
NM_001458.5(FLNC):c.4800G>A (p.Val1600=)
|
|
|
NM_001458.5(FLNC):c.4803C>T (p.Ser1601=)
|
|
|
NM_001458.5(FLNC):c.480G>A (p.Thr160=)
|
|
|
NM_001458.5(FLNC):c.4811C>T (p.Pro1604Leu)
|
|
|
NM_001458.5(FLNC):c.4815C>T (p.Asp1605=)
|
|
|
NM_001458.5(FLNC):c.4817T>A (p.Met1606Lys)
|
|
|
NM_001458.5(FLNC):c.4831A>T (p.Thr1611Ser)
|
|
|
NM_001458.5(FLNC):c.4851C>T (p.Gly1617=)
|
|
|
NM_001458.5(FLNC):c.4857T>C (p.Asp1619=)
|
|
|
NM_001458.5(FLNC):c.4858G>A (p.Glu1620Lys)
|
|
|
NM_001458.5(FLNC):c.4860G>A (p.Glu1620=)
|
|
|
NM_001458.5(FLNC):c.4868A>G (p.Tyr1623Cys)
|
|
|
NM_001458.5(FLNC):c.4884C>A (p.Ile1628=)
|
|
|
NM_001458.5(FLNC):c.489G>A (p.Gln163=)
|
|
|
NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg)
|
|
|
NM_001458.5(FLNC):c.4920C>T (p.Leu1640=)
|
|
|
NM_001458.5(FLNC):c.4926A>G (p.Thr1642=)
|
|
|
NM_001458.5(FLNC):c.4946del (p.Gly1649fs)
|
|
|
NM_001458.5(FLNC):c.4951+3G>A
|
|
|
NM_001458.5(FLNC):c.4952-9G>A
|
|
|
NM_001458.5(FLNC):c.4969C>G (p.Arg1657Gly)
|
|
|
NM_001458.5(FLNC):c.4979T>C (p.Ile1660Thr)
|
|
|
NM_001458.5(FLNC):c.5022T>G (p.Gly1674=)
|
|
|
NM_001458.5(FLNC):c.5031G>A (p.Lys1677=)
|
|
|
NM_001458.5(FLNC):c.5036C>A (p.Thr1679Lys)
|
|
|
NM_001458.5(FLNC):c.5039G>C (p.Cys1680Ser)
|
|
|
NM_001458.5(FLNC):c.5043G>A (p.Thr1681=)
|
|
|
NM_001458.5(FLNC):c.5054C>T (p.Pro1685Leu)
|
|
|
NM_001458.5(FLNC):c.5059G>A (p.Gly1687Arg)
|
|
|
NM_001458.5(FLNC):c.5064_5084dup (p.Leu1690_Glu1696dup)
|
|
|
NM_001458.5(FLNC):c.5111T>C (p.Ile1704Thr)
|
|
|
NM_001458.5(FLNC):c.5142C>T (p.Tyr1714=)
|
|
|
NM_001458.5(FLNC):c.5156G>A (p.Arg1719His)
|
|
|
NM_001458.5(FLNC):c.5164G>A (p.Gly1722Ser)
|
|
|
NM_001458.5(FLNC):c.5191C>T (p.His1731Tyr)
|
|
|
NM_001458.5(FLNC):c.5199+1G>T
|
|
|
NM_001458.5(FLNC):c.519_525delinsT (p.Pro174_Gln175del)
|
|
|
NM_001458.5(FLNC):c.5217G>A (p.Pro1739=)
|
|
|
NM_001458.5(FLNC):c.5235T>C (p.Ser1745=)
|
|
|
NM_001458.5(FLNC):c.5242C>T (p.Pro1748Ser)
|
|
|
NM_001458.5(FLNC):c.5263G>A (p.Ala1755Thr)
|
|
|
NM_001458.5(FLNC):c.5265TCC[1] (p.Pro1757del)
|
|
|
NM_001458.5(FLNC):c.5268T>A (p.Pro1756=)
|
|
|
NM_001458.5(FLNC):c.5272C>G (p.Arg1758Gly)
|
|
|
NM_001458.5(FLNC):c.5274G>A (p.Arg1758=)
|
|
|
NM_001458.5(FLNC):c.5279G>A (p.Gly1760Asp)
|
|
|
NM_001458.5(FLNC):c.5298+10C>T
|
|
|
NM_001458.5(FLNC):c.5298+7C>G
|
|
|
NM_001458.5(FLNC):c.5298+8G>A
|
|
|
NM_001458.5(FLNC):c.5299-10C>T
|
|
|
NM_001458.5(FLNC):c.5303C>G (p.Thr1768Arg)
|
|
|
NM_001458.5(FLNC):c.5307G>C (p.Glu1769Asp)
|
|
|
NM_001458.5(FLNC):c.5320C>T (p.Pro1774Ser)
|
|
|
NM_001458.5(FLNC):c.5331A>G (p.Pro1777=)
|
|
|
NM_001458.5(FLNC):c.5335G>T (p.Glu1779Ter)
|
|
|
NM_001458.5(FLNC):c.5358C>G (p.Asn1786Lys)
|
|
|
NM_001458.5(FLNC):c.5362G>T (p.Val1788Phe)
|
|
|
NM_001458.5(FLNC):c.5388G>C (p.Gly1796=)
|
|
|
NM_001458.5(FLNC):c.5389dup (p.Glu1797fs)
|
|
|
NM_001458.5(FLNC):c.5395A>C (p.Thr1799Pro)
|
|
|
NM_001458.5(FLNC):c.5399-8C>T
|
|
|
NM_001458.5(FLNC):c.5407C>T (p.Arg1803Trp)
|
|
|
NM_001458.5(FLNC):c.5412G>A (p.Met1804Ile)
|
|
|
NM_001458.5(FLNC):c.5413C>A (p.Pro1805Thr)
|
|
|
NM_001458.5(FLNC):c.5414C>T (p.Pro1805Leu)
|
|
|
NM_001458.5(FLNC):c.5431C>T (p.Arg1811Trp)
|
|
|
NM_001458.5(FLNC):c.543C>T (p.Phe181=)
|
|
|
NM_001458.5(FLNC):c.5446G>A (p.Asp1816Asn)
|
|
|
NM_001458.5(FLNC):c.5448CAA[1] (p.Asn1817del)
|
rs1312829675
|
|
NM_001458.5(FLNC):c.5455G>A (p.Asp1819Asn)
|
|
|
NM_001458.5(FLNC):c.5455G>T (p.Asp1819Tyr)
|
|
|
NM_001458.5(FLNC):c.5470G>A (p.Val1824Met)
|
|
|
NM_001458.5(FLNC):c.547C>T (p.Arg183Cys)
|
|
|
NM_001458.5(FLNC):c.5495G>T (p.Gly1832Val)
|
|
|
NM_001458.5(FLNC):c.5520T>A (p.Tyr1840Ter)
|
|
|
NM_001458.5(FLNC):c.5520T>C (p.Tyr1840=)
|
|
|
NM_001458.5(FLNC):c.5524G>A (p.Gly1842Ser)
|
|
|
NM_001458.5(FLNC):c.5540-5C>T
|
|
|
NM_001458.5(FLNC):c.5557del (p.Tyr1853fs)
|
|
|
NM_001458.5(FLNC):c.5569_5578del (p.Ile1857fs)
|
|
|
NM_001458.5(FLNC):c.5583T>C (p.His1861=)
|
|
|
NM_001458.5(FLNC):c.5624A>G (p.Asn1875Ser)
|
|
|
NM_001458.5(FLNC):c.563del (p.Gly188fs)
|
|
|
NM_001458.5(FLNC):c.5657A>G (p.Asp1886Gly)
|
|
|
NM_001458.5(FLNC):c.5665del (p.Glu1889fs)
|
|
|
NM_001458.5(FLNC):c.5677_5682del (p.Ser1893_Leu1894del)
|
|
|
NM_001458.5(FLNC):c.5685C>T (p.Ala1895=)
|
|
|
NM_001458.5(FLNC):c.5693G>A (p.Gly1898Asp)
|
|
|
NM_001458.5(FLNC):c.5713A>G (p.Thr1905Ala)
|
|
|
NM_001458.5(FLNC):c.5723A>C (p.Asp1908Ala)
|
|
|
NM_001458.5(FLNC):c.5724CAA[1] (p.Asn1909del)
|
|
|
NM_001458.5(FLNC):c.5727C>T (p.Asn1909=)
|
|
|
NM_001458.5(FLNC):c.5733dup (p.Gly1912fs)
|
|
|
NM_001458.5(FLNC):c.5742C>T (p.Cys1914=)
|
|
|
NM_001458.5(FLNC):c.5753A>G (p.Tyr1918Cys)
|
|
|
NM_001458.5(FLNC):c.5758C>A (p.Pro1920Thr)
|
|
|
NM_001458.5(FLNC):c.5776T>G (p.Tyr1926Asp)
|
|
|
NM_001458.5(FLNC):c.5788G>A (p.Val1930Met)
|
|
|
NM_001458.5(FLNC):c.5793C>T (p.Arg1931=)
|
|
|
NM_001458.5(FLNC):c.57C>T (p.Asp19=)
|
|
|
NM_001458.5(FLNC):c.5803A>G (p.Lys1935Glu)
|
|
|
NM_001458.5(FLNC):c.5814G>C (p.Pro1938=)
|
|
|
NM_001458.5(FLNC):c.5826C>G (p.Phe1942Leu)
|
|
|
NM_001458.5(FLNC):c.5842+2T>G
|
|
|
NM_001458.5(FLNC):c.5842+6G>A
|
|
|
NM_001458.5(FLNC):c.5847T>C (p.Asp1949=)
|
|
|
NM_001458.5(FLNC):c.5850C>T (p.Asp1950=)
|
|
|
NM_001458.5(FLNC):c.587A>T (p.Asp196Val)
|
|
|
NM_001458.5(FLNC):c.5882C>T (p.Thr1961Ile)
|
|
|
NM_001458.5(FLNC):c.5895G>C (p.Val1965=)
|
|
|
NM_001458.5(FLNC):c.5903A>C (p.Lys1968Thr)
|
|
|
NM_001458.5(FLNC):c.5915G>A (p.Ser1972Asn)
|
|
|
NM_001458.5(FLNC):c.5941A>G (p.Ile1981Val)
|
|
|
NM_001458.5(FLNC):c.5961C>T (p.Asn1987=)
|
|
|
NM_001458.5(FLNC):c.5983del (p.Arg1995fs)
|
|
|
NM_001458.5(FLNC):c.5999A>C (p.His2000Pro)
|
|
|
NM_001458.5(FLNC):c.6000C>G (p.His2000Gln)
|
|
|
NM_001458.5(FLNC):c.6004+12dup
|
|
|
NM_001458.5(FLNC):c.6004+6C>T
|
|
|
NM_001458.5(FLNC):c.6004+7G>A
|
|
|
NM_001458.5(FLNC):c.601G>A (p.Gly201Ser)
|
|
|
NM_001458.5(FLNC):c.602-3C>T
|
|
|
NM_001458.5(FLNC):c.6030C>T (p.Val2010=)
|
|
|
NM_001458.5(FLNC):c.6039C>T (p.His2013=)
|
|
|
NM_001458.5(FLNC):c.6040G>C (p.Val2014Leu)
|
|
|
NM_001458.5(FLNC):c.6048C>T (p.Ser2016=)
|
|
|
NM_001458.5(FLNC):c.6049G>A (p.Val2017Met)
|
|
|
NM_001458.5(FLNC):c.6057G>A (p.Lys2019=)
|
|
|
NM_001458.5(FLNC):c.606C>G (p.Leu202=)
|
|
|
NM_001458.5(FLNC):c.6094C>G (p.Leu2032Val)
|
|
|
NM_001458.5(FLNC):c.6111G>A (p.Glu2037=)
|
|
|
NM_001458.5(FLNC):c.6121G>A (p.Ala2041Thr)
|
|
|
NM_001458.5(FLNC):c.6121G>T (p.Ala2041Ser)
|
|
|
NM_001458.5(FLNC):c.6123C>T (p.Ala2041=)
|
|
|
NM_001458.5(FLNC):c.6132G>T (p.Val2044=)
|
|
|
NM_001458.5(FLNC):c.6133C>A (p.Arg2045=)
|
|
|
NM_001458.5(FLNC):c.6156C>T (p.Ser2052=)
|
|
|
NM_001458.5(FLNC):c.6166A>G (p.Thr2056Ala)
|
|
|
NM_001458.5(FLNC):c.6189C>T (p.Ile2063=)
|
|
|
NM_001458.5(FLNC):c.61A>G (p.Met21Val)
|
|
|
NM_001458.5(FLNC):c.6208+3A>G
|
|
|
NM_001458.5(FLNC):c.6210T>C (p.Gly2070=)
|
|
|
NM_001458.5(FLNC):c.6216G>A (p.Gly2072=)
|
|
|
NM_001458.5(FLNC):c.6218G>C (p.Gly2073Ala)
|
|
|
NM_001458.5(FLNC):c.6233T>C (p.Ile2078Thr)
|
|
|
NM_001458.5(FLNC):c.6238G>C (p.Gly2080Arg)
|
|
|
NM_001458.5(FLNC):c.6240_6259del (p.Pro2081fs)
|
|
|
NM_001458.5(FLNC):c.6257T>C (p.Ile2086Thr)
|
|
|
NM_001458.5(FLNC):c.6271A>G (p.Met2091Val)
|
|
|
NM_001458.5(FLNC):c.6280G>A (p.Gly2094Arg)
|
|
|
NM_001458.5(FLNC):c.6283A>T (p.Thr2095Ser)
|
|
|
NM_001458.5(FLNC):c.6285A>T (p.Thr2095=)
|
|
|
NM_001458.5(FLNC):c.6310G>C (p.Glu2104Gln)
|
|
|
NM_001458.5(FLNC):c.6312G>A (p.Glu2104=)
|
|
|
NM_001458.5(FLNC):c.6321C>G (p.Thr2107=)
|
|
|
NM_001458.5(FLNC):c.6345_6352del (p.Asp2116fs)
|
|
|
NM_001458.5(FLNC):c.6361+5G>A
|
|
|
NM_001458.5(FLNC):c.6362-1G>T
|
|
|
NM_001458.5(FLNC):c.6381_6386dup (p.Val2128_Thr2129dup)
|
|
|
NM_001458.5(FLNC):c.6398G>A (p.Arg2133His)
|
|
|
NM_001458.5(FLNC):c.6400A>G (p.Met2134Val)
|
|
|
NM_001458.5(FLNC):c.6420G>A (p.Arg2140=)
|
|
|
NM_001458.5(FLNC):c.6422G>A (p.Arg2141Gln)
|
|
|
NM_001458.5(FLNC):c.6429G>A (p.Gln2143=)
|
|
|
NM_001458.5(FLNC):c.642C>G (p.Pro214=)
|
|
|
NM_001458.5(FLNC):c.6450C>A (p.Ile2150=)
|
|
|
NM_001458.5(FLNC):c.6453C>A (p.Gly2151=)
|
|
|
NM_001458.5(FLNC):c.6484+6A>T
|
|
|
NM_001458.5(FLNC):c.6504G>A (p.Val2168=)
|
|
|
NM_001458.5(FLNC):c.651C>T (p.Asn217=)
|
|
|
NM_001458.5(FLNC):c.6523A>C (p.Thr2175Pro)
|
|
|
NM_001458.5(FLNC):c.6529A>G (p.Thr2177Ala)
|
|
|
NM_001458.5(FLNC):c.6559CGCACGGAG[3] (p.2187RTE[3])
|
|
|
NM_001458.5(FLNC):c.6568C>T (p.Arg2190Cys)
|
|
|
NM_001458.5(FLNC):c.6570C>T (p.Arg2190=)
|
|
|
NM_001458.5(FLNC):c.6588G>A (p.Thr2196=)
|
|
|
NM_001458.5(FLNC):c.6594C>A (p.Gly2198=)
|
|
|
NM_001458.5(FLNC):c.6594C>T (p.Gly2198=)
|
|
|
NM_001458.5(FLNC):c.6607C>G (p.Arg2203Gly)
|
|
|
NM_001458.5(FLNC):c.6609C>T (p.Arg2203=)
|
|
|
NM_001458.5(FLNC):c.6610G>A (p.Glu2204Lys)
|
|
|
NM_001458.5(FLNC):c.6617G>A (p.Arg2206Gln)
|
|
|
NM_001458.5(FLNC):c.6617G>C (p.Arg2206Pro)
|
|
|
NM_001458.5(FLNC):c.6646G>A (p.Asp2216Asn)
|
|
|
NM_001458.5(FLNC):c.664A>T (p.Met222Leu)
|
|
|
NM_001458.5(FLNC):c.6654C>T (p.Phe2218=)
|
|
|
NM_001458.5(FLNC):c.6660T>C (p.Ala2220=)
|
|
|
NM_001458.5(FLNC):c.6662T>C (p.Val2221Ala)
|
|
|
NM_001458.5(FLNC):c.6675C>T (p.Phe2225=)
|
|
|
NM_001458.5(FLNC):c.669G>A (p.Gln223=)
|
|
|
NM_001458.5(FLNC):c.6703G>A (p.Gly2235Ser)
|
|
|
NM_001458.5(FLNC):c.6707G>C (p.Ser2236Thr)
|
|
|
NM_001458.5(FLNC):c.6713C>T (p.Thr2238Ile)
|
|
|
NM_001458.5(FLNC):c.6714C>G (p.Thr2238=)
|
|
|
NM_001458.5(FLNC):c.6716G>A (p.Arg2239Gln)
|
|
|
NM_001458.5(FLNC):c.6727+10G>A
|
|
|
NM_001458.5(FLNC):c.6727+9C>G
|
|
|
NM_001458.5(FLNC):c.6738C>T (p.Ser2246=)
|
|
|
NM_001458.5(FLNC):c.673G>T (p.Ala225Ser)
|
|
|
NM_001458.5(FLNC):c.675C>T (p.Ala225=)
|
|
|
NM_001458.5(FLNC):c.6774G>A (p.Ser2258=)
|
|
|
NM_001458.5(FLNC):c.6789C>T (p.Ala2263=)
|
|
|
NM_001458.5(FLNC):c.6798C>T (p.Ile2266=)
|
|
|
NM_001458.5(FLNC):c.6802G>T (p.Glu2268Ter)
|
|
|
NM_001458.5(FLNC):c.6809A>T (p.Glu2270Val)
|
|
|
NM_001458.5(FLNC):c.6826G>A (p.Val2276Met)
|
|
|
NM_001458.5(FLNC):c.6841dup (p.Gln2281fs)
|
|
|
NM_001458.5(FLNC):c.6845A>G (p.Glu2282Gly)
|
|
|
NM_001458.5(FLNC):c.6860C>T (p.Thr2287Met)
|
|
|
NM_001458.5(FLNC):c.6862G>C (p.Val2288Leu)
|
|
|
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs)
|
|
|
NM_001458.5(FLNC):c.6877C>T (p.Arg2293Cys)
|
|
|
NM_001458.5(FLNC):c.6891G>A (p.Val2297=)
|
|
|
NM_001458.5(FLNC):c.6915T>C (p.Thr2305=)
|
|
|
NM_001458.5(FLNC):c.6924G>A (p.Pro2308=)
|
|
|
NM_001458.5(FLNC):c.6925C>T (p.Leu2309=)
|
|
|
NM_001458.5(FLNC):c.6938G>A (p.Gly2313Asp)
|
|
|
NM_001458.5(FLNC):c.6955del (p.Ala2319fs)
|
|
|
NM_001458.5(FLNC):c.6957C>G (p.Ala2319=)
|
|
|
NM_001458.5(FLNC):c.6972G>A (p.Leu2324=)
|
|
|
NM_001458.5(FLNC):c.6975G>A (p.Glu2325=)
|
|
|
NM_001458.5(FLNC):c.699+8C>T
|
|
|
NM_001458.5(FLNC):c.6991G>T (p.Val2331Leu)
|
|
|
NM_001458.5(FLNC):c.6998-6C>T
|
|
|
NM_001458.5(FLNC):c.6999C>T (p.Ala2333=)
|
|
|
NM_001458.5(FLNC):c.7023G>A (p.Glu2341=)
|
|
|
NM_001458.5(FLNC):c.7030G>A (p.Ala2344Thr)
|
|
|
NM_001458.5(FLNC):c.7030G>C (p.Ala2344Pro)
|
|
|
NM_001458.5(FLNC):c.7071G>A (p.Ala2357=)
|
|
|
NM_001458.5(FLNC):c.707C>T (p.Ala236Val)
|
|
|
NM_001458.5(FLNC):c.7135+6C>T
|
|
|
NM_001458.5(FLNC):c.7164T>C (p.Asn2388=)
|
|
|
NM_001458.5(FLNC):c.7182C>T (p.Asp2394=)
|
|
|
NM_001458.5(FLNC):c.71C>A (p.Thr24Lys)
|
|
|
NM_001458.5(FLNC):c.720_721inv (p.Val241Met)
|
|
|
NM_001458.5(FLNC):c.7210C>T (p.Leu2404Phe)
|
|
|
NM_001458.5(FLNC):c.7225C>T (p.Arg2409Cys)
|
|
|
NM_001458.5(FLNC):c.7227C>T (p.Arg2409=)
|
|
|
NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys)
|
|
|
NM_001458.5(FLNC):c.7251+4T>G
|
|
|
NM_001458.5(FLNC):c.7251+7G>A
|
|
|
NM_001458.5(FLNC):c.7261del (p.Leu2421fs)
|
|
|
NM_001458.5(FLNC):c.7263C>G (p.Leu2421=)
|
|
|
NM_001458.5(FLNC):c.7275G>C (p.Gln2425His)
|
|
|
NM_001458.5(FLNC):c.7314C>A (p.Gly2438=)
|
|
|
NM_001458.5(FLNC):c.7315G>A (p.Val2439Met)
|
|
|
NM_001458.5(FLNC):c.7338_7339del (p.Pro2447fs)
|
rs1585171628
|
|
NM_001458.5(FLNC):c.7349C>A (p.Ala2450Asp)
|
|
|
NM_001458.5(FLNC):c.7380C>T (p.Asp2460=)
|
|
|
NM_001458.5(FLNC):c.7389G>A (p.Lys2463=)
|
|
|
NM_001458.5(FLNC):c.7400G>C (p.Arg2467Pro)
|
|
|
NM_001458.5(FLNC):c.7411C>A (p.His2471Asn)
|
|
|
NM_001458.5(FLNC):c.7414G>A (p.Glu2472Lys)
|
|
|
NM_001458.5(FLNC):c.7437T>C (p.Asp2479=)
|
|
|
NM_001458.5(FLNC):c.7439T>C (p.Val2480Ala)
|
|
|
NM_001458.5(FLNC):c.748G>A (p.Val250Ile)
|
|
|
NM_001458.5(FLNC):c.7491G>A (p.Gly2497=)
|
|
|
NM_001458.5(FLNC):c.7494G>A (p.Glu2498=)
|
|
|
NM_001458.5(FLNC):c.7507G>A (p.Gly2503Arg)
|
|
|
NM_001458.5(FLNC):c.7516G>A (p.Gly2506Ser)
|
|
|
NM_001458.5(FLNC):c.7526_7527delinsAG (p.Ser2509Ter)
|
|
|
NM_001458.5(FLNC):c.7559C>A (p.Thr2520Asn)
|
|
|
NM_001458.5(FLNC):c.7561G>A (p.Gly2521Ser)
|
|
|
NM_001458.5(FLNC):c.7562-1G>A
|
|
|
NM_001458.5(FLNC):c.7562-2_7581dup
|
|
|
NM_001458.5(FLNC):c.7571del (p.Ser2523_Ser2524insTer)
|
|
|
NM_001458.5(FLNC):c.7575G>A (p.Glu2525=)
|
|
|
NM_001458.5(FLNC):c.7581C>T (p.Ile2527=)
|
|
|
NM_001458.5(FLNC):c.7582G>A (p.Val2528Met)
|
|
|
NM_001458.5(FLNC):c.7584G>A (p.Val2528=)
|
|
|
NM_001458.5(FLNC):c.7589C>A (p.Thr2530Asn)
|
|
|
NM_001458.5(FLNC):c.7596T>C (p.Asn2532=)
|
|
|
NM_001458.5(FLNC):c.7599C>T (p.Ala2533=)
|
|
|
NM_001458.5(FLNC):c.7606G>C (p.Gly2536Arg)
|
|
|
NM_001458.5(FLNC):c.7635C>T (p.Pro2545=)
|
|
|
NM_001458.5(FLNC):c.7652A>G (p.Asp2551Gly)
|
|
|
NM_001458.5(FLNC):c.7653C>T (p.Asp2551=)
|
|
|
NM_001458.5(FLNC):c.7666C>T (p.Pro2556Ser)
|
|
|
NM_001458.5(FLNC):c.7691C>T (p.Thr2564Ile)
|
|
|
NM_001458.5(FLNC):c.7709A>G (p.Asn2570Ser)
|
|
|
NM_001458.5(FLNC):c.7710C>T (p.Asn2570=)
|
|
|
NM_001458.5(FLNC):c.7731C>T (p.Tyr2577=)
|
|
|
NM_001458.5(FLNC):c.7749C>T (p.Ile2583=)
|
|
|
NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs)
|
|
|
NM_001458.5(FLNC):c.7757_7758delinsA (p.Ser2586fs)
|
|
|
NM_001458.5(FLNC):c.7765A>G (p.Lys2589Glu)
|
|
|
NM_001458.5(FLNC):c.7776C>T (p.Val2592=)
|
|
|
NM_001458.5(FLNC):c.777G>A (p.Lys259=)
|
|
|
NM_001458.5(FLNC):c.7780+2T>C
|
|
|
NM_001458.5(FLNC):c.7781-10C>T
|
|
|
NM_001458.5(FLNC):c.7781-4T>C
|
|
|
NM_001458.5(FLNC):c.7781-8C>A
|
|
|
NM_001458.5(FLNC):c.7782T>C (p.Gly2594=)
|
|
|
NM_001458.5(FLNC):c.7797A>G (p.Gly2599=)
|
|
|
NM_001458.5(FLNC):c.7807C>T (p.Leu2603Phe)
|
|
|
NM_001458.5(FLNC):c.7819T>G (p.Ser2607Ala)
|
|
|
NM_001458.5(FLNC):c.7824G>A (p.Thr2608=)
|
|
|
NM_001458.5(FLNC):c.7832T>G (p.Val2611Gly)
|
|
|
NM_001458.5(FLNC):c.783G>C (p.Lys261Asn)
|
|
|
NM_001458.5(FLNC):c.7840G>A (p.Val2614Met)
|
|
|
NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs)
|
rs1554402003
|
|
NM_001458.5(FLNC):c.7893CTC[1] (p.Ser2633del)
|
|
|
NM_001458.5(FLNC):c.7907G>T (p.Ser2636Ile)
|
|
|
NM_001458.5(FLNC):c.7931G>C (p.Gly2644Ala)
|
|
|
NM_001458.5(FLNC):c.7946T>C (p.Phe2649Ser)
|
|
|
NM_001458.5(FLNC):c.7998C>T (p.Asn2666=)
|
|
|
NM_001458.5(FLNC):c.7999ATG[2] (p.Met2669del)
|
|
|
NM_001458.5(FLNC):c.802G>A (p.Val268Ile)
|
|
|
NM_001458.5(FLNC):c.8073G>A (p.Val2691=)
|
|
|
NM_001458.5(FLNC):c.8109C>G (p.Asp2703Glu)
|
|
|
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.8131G>T (p.Gly2711Cys)
|
|
|
NM_001458.5(FLNC):c.8136C>T (p.Asp2712=)
|
|
|
NM_001458.5(FLNC):c.8143G>T (p.Val2715Phe)
|
|
|
NM_001458.5(FLNC):c.8171T>C (p.Val2724Ala)
|
|
|
NM_001458.5(FLNC):c.824C>A (p.Pro275His)
|
|
|
NM_001458.5(FLNC):c.842A>G (p.Tyr281Cys)
|
|
|
NM_001458.5(FLNC):c.855C>T (p.Ile285=)
|
|
|
NM_001458.5(FLNC):c.863A>G (p.Gln288Arg)
|
|
|
NM_001458.5(FLNC):c.867C>G (p.Gly289=)
|
|
|
NM_001458.5(FLNC):c.868A>G (p.Asn290Asp)
|
|
|
NM_001458.5(FLNC):c.873C>T (p.Thr291=)
|
|
|
NM_001458.5(FLNC):c.897C>T (p.Thr299=)
|
|
|
NM_001458.5(FLNC):c.913G>A (p.Ala305Thr)
|
|
|
NM_001458.5(FLNC):c.914C>G (p.Ala305Gly)
|
|
|
NM_001458.5(FLNC):c.918C>T (p.Gly306=)
|
|
|
NM_001458.5(FLNC):c.935T>G (p.Val312Gly)
|
|
|
NM_001458.5(FLNC):c.942C>T (p.Ile314=)
|
|
|
NM_001458.5(FLNC):c.943G>A (p.Glu315Lys)
|
|
|
NM_001458.5(FLNC):c.95C>T (p.Ala32Val)
|
|
|
NM_001458.5(FLNC):c.963C>T (p.Thr321=)
|
|
|
NM_001458.5(FLNC):c.969+10G>A
|
|
|
NM_001458.5(FLNC):c.970-5A>C
|
|
|
NM_001458.5(FLNC):c.977T>C (p.Val326Ala)
|
|
|
NM_001458.5(FLNC):c.987C>A (p.Asn329Lys)
|
|
|
NM_001927.4(DES):c.1000G>A (p.Glu334Lys)
|
rs1227068284
|
|
NM_001927.4(DES):c.1004T>C (p.Ile335Thr)
|
|
|
NM_001927.4(DES):c.1008C>T (p.Asp336=)
|
rs531293539
|
|
NM_001927.4(DES):c.1009G>A (p.Ala337Thr)
|
rs59962885
|
|
NM_001927.4(DES):c.1010C>A (p.Ala337Asp)
|
|
|
NM_001927.4(DES):c.1011C>T (p.Ala337=)
|
rs369537705
|
|
NM_001927.4(DES):c.1013T>C (p.Leu338Pro)
|
rs57496341
|
|
NM_001927.4(DES):c.1013T>G (p.Leu338Arg)
|
rs57496341
|
|
NM_001927.4(DES):c.1014G>C (p.Leu338=)
|
rs12920
|
|
NM_001927.4(DES):c.1017G>C (p.Lys339Asn)
|
|
|
NM_001927.4(DES):c.1019G>A (p.Gly340Asp)
|
rs1559353118
|
|
NM_001927.4(DES):c.1022C>T (p.Thr341Ile)
|
|
|
NM_001927.4(DES):c.1023+6T>G
|
|
|
NM_001927.4(DES):c.1024-3C>A
|
rs1553603530
|
|
NM_001927.4(DES):c.1024-7C>G
|
rs779098835
|
|
NM_001927.4(DES):c.1024-7C>T
|
rs779098835
|
|
NM_001927.4(DES):c.1024-9C>T
|
rs201552590
|
|
NM_001927.4(DES):c.1024A>G (p.Asn342Asp)
|
rs267607482
|
|
NM_001927.4(DES):c.1026C>T (p.Asn342=)
|
rs61731508
|
|
NM_001927.4(DES):c.1027G>A (p.Asp343Asn)
|
rs763903197
|
|
NM_001927.4(DES):c.1027_1032dup (p.Asp343_Ser344dup)
|
|
|
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)
|
rs57639980
|
|
NM_001927.4(DES):c.1038G>A (p.Met346Ile)
|
rs778340812
|
|
NM_001927.4(DES):c.1041G>A (p.Arg347=)
|
|
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
|
NM_001927.4(DES):c.1049G>A (p.Arg350Gln)
|
rs57965306
|
|
NM_001927.4(DES):c.1049G>C (p.Arg350Pro)
|
rs57965306
|
|
NM_001927.4(DES):c.1049G>T (p.Arg350Leu)
|
|
|
NM_001927.4(DES):c.104T>C (p.Phe35Ser)
|
rs1575012999
|
|
NM_001927.4(DES):c.1050G>A (p.Arg350=)
|
rs769505280
|
|
NM_001927.4(DES):c.1055T>C (p.Leu352Ser)
|
|
|
NM_001927.4(DES):c.1059G>A (p.Glu353=)
|
rs1575014856
|
|
NM_001927.4(DES):c.1063C>G (p.Arg355Gly)
|
rs762808690
|
|
NM_001927.4(DES):c.1064G>A (p.Arg355Gln)
|
rs61368398
|
|
NM_001927.4(DES):c.1064G>C (p.Arg355Pro)
|
rs61368398
|
|
NM_001927.4(DES):c.1079C>T (p.Ala360Val)
|
|
|
NM_001927.4(DES):c.1090C>A (p.Gln364Lys)
|
|
|
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del)
|
rs58687088
|
|
NM_001927.4(DES):c.1099A>C (p.Ile367Leu)
|
|
|
NM_001927.4(DES):c.109C>G (p.Arg37Gly)
|
rs537881554
|
|
NM_001927.4(DES):c.109C>T (p.Arg37Trp)
|
rs537881554
|
|
NM_001927.4(DES):c.10G>A (p.Ala4Thr)
|
|
|
NM_001927.4(DES):c.1100T>C (p.Ile367Thr)
|
rs1480755998
|
|
NM_001927.4(DES):c.1101T>C (p.Ile367=)
|
rs1575014904
|
|
NM_001927.4(DES):c.1103C>T (p.Ala368Val)
|
|
|
NM_001927.4(DES):c.1104G>A (p.Ala368=)
|
rs1058284
|
|
NM_001927.4(DES):c.1105C>T (p.Arg369Cys)
|
rs1475674849
|
|
NM_001927.4(DES):c.1106G>T (p.Arg369Leu)
|
|
|
NM_001927.4(DES):c.1109T>C (p.Leu370Pro)
|
rs59308628
|
|
NM_001927.4(DES):c.110G>T (p.Arg37Leu)
|
|
|
NM_001927.4(DES):c.1110GGA[2] (p.Glu373del)
|
|
|
NM_001927.4(DES):c.1119A>C (p.Glu373Asp)
|
|
|
NM_001927.4(DES):c.1123C>T (p.Arg375Trp)
|
rs375218723
|
|
NM_001927.4(DES):c.1132_1153del (p.Lys378fs)
|
rs1575014943
|
|
NM_001927.4(DES):c.1134G>A (p.Lys378=)
|
rs1575014950
|
|
NM_001927.4(DES):c.1142T>C (p.Met381Thr)
|
|
|
NM_001927.4(DES):c.1144G>A (p.Ala382Thr)
|
|
|
NM_001927.4(DES):c.1147C>T (p.Arg383Cys)
|
|
|
NM_001927.4(DES):c.1148G>A (p.Arg383His)
|
rs1292042317
|
|
NM_001927.4(DES):c.1148G>C (p.Arg383Pro)
|
|
|
NM_001927.4(DES):c.114G>A (p.Ala38=)
|
rs368901105
|
|
NM_001927.4(DES):c.114G>T (p.Ala38=)
|
rs368901105
|
|
NM_001927.4(DES):c.1158C>T (p.Arg386=)
|
rs774323736
|
|
NM_001927.4(DES):c.1158_1160del (p.Glu387del)
|
rs1559353314
|
|
NM_001927.4(DES):c.1159G>A (p.Glu387Lys)
|
rs865961434
|
|
NM_001927.4(DES):c.115G>A (p.Gly39Ser)
|
|
|
NM_001927.4(DES):c.1172T>C (p.Leu391Pro)
|
|
|
NM_001927.4(DES):c.1172T>G (p.Leu391Arg)
|
|
|
NM_001927.4(DES):c.1179C>T (p.Asn393=)
|
rs955390251
|
|
NM_001927.4(DES):c.1180G>A (p.Val394Met)
|
rs776786349
|
|
NM_001927.4(DES):c.1180G>T (p.Val394Leu)
|
rs776786349
|
|
NM_001927.4(DES):c.1191C>T (p.Ala397=)
|
|
|
NM_001927.4(DES):c.1193T>C (p.Leu398Pro)
|
|
|
NM_001927.4(DES):c.1201G>A (p.Glu401Lys)
|
rs57694264
|
|
NM_001927.4(DES):c.1202A>G (p.Glu401Gly)
|
|
|
NM_001927.4(DES):c.1205T>C (p.Ile402Thr)
|
rs1553603571
|
|
NM_001927.4(DES):c.1205T>G (p.Ile402Ser)
|
|
|
NM_001927.4(DES):c.1209C>T (p.Ala403=)
|
|
|
NM_001927.4(DES):c.1213del (p.Tyr405fs)
|
rs886043080
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
NM_001927.4(DES):c.1217G>A (p.Arg406Gln)
|
rs1057520275
|
|
NM_001927.4(DES):c.1219A>C (p.Lys407Gln)
|
rs1553603573
|
|
NM_001927.4(DES):c.1227G>A (p.Leu409=)
|
rs143954788
|
|
NM_001927.4(DES):c.1227G>T (p.Leu409=)
|
|
|
NM_001927.4(DES):c.1228G>A (p.Glu410Lys)
|
|
|
NM_001927.4(DES):c.1237G>A (p.Glu413Lys)
|
rs61726467
|
|
NM_001927.4(DES):c.1237G>T (p.Glu413Ter)
|
rs61726467
|
|
NM_001927.4(DES):c.1238A>G (p.Glu413Gly)
|
|
|
NM_001927.4(DES):c.1243C>G (p.Arg415Gly)
|
|
|
NM_001927.4(DES):c.1243C>T (p.Arg415Trp)
|
rs751942358
|
|
NM_001927.4(DES):c.1243del (p.Arg415fs)
|
|
|
NM_001927.4(DES):c.1244G>A (p.Arg415Gln)
|
rs1262288015
|
|
NM_001927.4(DES):c.1250A>G (p.Asn417Ser)
|
|
|
NM_001927.4(DES):c.1255C>A (p.Pro419Thr)
|
rs62635763
|
|
NM_001927.4(DES):c.1255C>T (p.Pro419Ser)
|
rs62635763
|
|
NM_001927.4(DES):c.1257C>T (p.Pro419=)
|
rs143154982
|
|
NM_001927.4(DES):c.1262A>G (p.Gln421Arg)
|
rs756613339
|
|
NM_001927.4(DES):c.1266C>A (p.Thr422=)
|
|
|
NM_001927.4(DES):c.1269C>T (p.Tyr423=)
|
rs765867148
|
|
NM_001927.4(DES):c.1272T>C (p.Ser424=)
|
rs370720293
|
|
NM_001927.4(DES):c.1279A>T (p.Asn427Tyr)
|
|
|
NM_001927.4(DES):c.1281C>T (p.Asn427=)
|
|
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
|
NM_001927.4(DES):c.1285del (p.Arg429fs)
|
|
|
NM_001927.4(DES):c.1286G>A (p.Arg429Gln)
|
rs200580581
|
|
NM_001927.4(DES):c.1288+1G>A
|
rs112224037
|
|
NM_001927.4(DES):c.12C>A (p.Ala4=)
|
rs762566962
|
|
NM_001927.4(DES):c.12C>G (p.Ala4=)
|
|
|
NM_001927.4(DES):c.1300G>A (p.Glu434Lys)
|
rs952020807
|
|
NM_001927.4(DES):c.1310G>A (p.Gly437Asp)
|
rs878854471
|
|
NM_001927.4(DES):c.1312T>G (p.Ser438Ala)
|
rs1553603818
|
|
NM_001927.4(DES):c.131G>T (p.Gly44Val)
|
|
|
NM_001927.4(DES):c.1322A>T (p.His441Leu)
|
rs1064796937
|
|
NM_001927.4(DES):c.1323T>G (p.His441Gln)
|
|
|
NM_001927.4(DES):c.1325C>A (p.Thr442Asn)
|
rs121913005
|
|
NM_001927.4(DES):c.1325C>T (p.Thr442Ile)
|
rs121913005
|
|
NM_001927.4(DES):c.1335G>A (p.Thr445=)
|
|
|
NM_001927.4(DES):c.1353C>G (p.Ile451Met)
|
rs121913002
|
|
NM_001927.4(DES):c.1353C>T (p.Ile451=)
|
rs121913002
|
|
NM_001927.4(DES):c.1354_1358del (p.Glu452fs)
|
rs1060503171
|
|
NM_001927.4(DES):c.1359A>C (p.Thr453=)
|
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.1371+1G>A
|
rs748323823
|
|
NM_001927.4(DES):c.1372-3dup
|
rs876657769
|
|
NM_001927.4(DES):c.1374C>T (p.Val458=)
|
rs727502952
|
|
NM_001927.4(DES):c.1375G>A (p.Val459Ile)
|
rs73991549
|
|
NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu)
|
rs1060503170
|
|
NM_001927.4(DES):c.1404A>G (p.Glu468=)
|
rs397516691
|
|
NM_001927.4(DES):c.1407G>A (p.Val469=)
|
|
|
NM_001927.4(DES):c.1408C>T (p.Leu470Phe)
|
rs1060503172
|
|
NM_001927.4(DES):c.1409T>C (p.Leu470Pro)
|
|
|
NM_001927.4(DES):c.1411T>C (p.Ter471Gln)
|
rs886044329
|
|
NM_001927.4(DES):c.150G>T (p.Thr50=)
|
rs1179760415
|
|
NM_001927.4(DES):c.154C>A (p.Arg52Ser)
|
rs794728990
|
|
NM_001927.4(DES):c.157G>A (p.Val53Met)
|
|
|
NM_001927.4(DES):c.166G>C (p.Val56Leu)
|
rs578066781
|
|
NM_001927.4(DES):c.167T>A (p.Val56Glu)
|
rs1170549656
|
|
NM_001927.4(DES):c.170C>T (p.Ser57Leu)
|
rs372825868
|
|
NM_001927.4(DES):c.176C>T (p.Thr59Met)
|
|
|
NM_001927.4(DES):c.17C>T (p.Ser6Leu)
|
rs1214936508
|
|
NM_001927.4(DES):c.182G>A (p.Gly61Asp)
|
|
|
NM_001927.4(DES):c.184G>A (p.Gly62Arg)
|
rs886044090
|
|
NM_001927.4(DES):c.186G>T (p.Gly62=)
|
|
|
NM_001927.4(DES):c.188C>A (p.Ala63Asp)
|
|
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
|
NM_001927.4(DES):c.194dup (p.Leu66fs)
|
|
|
NM_001927.4(DES):c.195C>T (p.Gly65=)
|
rs1256584430
|
|
NM_001927.4(DES):c.196C>A (p.Leu66Met)
|
rs1320380570
|
|
NM_001927.4(DES):c.1A>G (p.Met1Val)
|
rs1057523274
|
|
NM_001927.4(DES):c.208C>T (p.Arg70Trp)
|
|
|
NM_001927.4(DES):c.209G>C (p.Arg70Pro)
|
rs933438188
|
|
NM_001927.4(DES):c.210G>A (p.Arg70=)
|
rs761255472
|
|
NM_001927.4(DES):c.212C>T (p.Ala71Val)
|
rs759235186
|
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
|
NM_001927.4(DES):c.217C>A (p.Arg73=)
|
|
|
NM_001927.4(DES):c.218G>A (p.Arg73Gln)
|
rs752518966
|
|
NM_001927.4(DES):c.218G>T (p.Arg73Leu)
|
rs752518966
|
|
NM_001927.4(DES):c.221T>A (p.Leu74Gln)
|
|
|
NM_001927.4(DES):c.225G>A (p.Gly75=)
|
|
|
NM_001927.4(DES):c.226del (p.Thr76fs)
|
rs1399282762
|
|
NM_001927.4(DES):c.229A>G (p.Thr77Ala)
|
rs769034192
|
|
NM_001927.4(DES):c.233G>T (p.Arg78Leu)
|
rs573916832
|
|
NM_001927.4(DES):c.243C>T (p.Ser81=)
|
rs201594392
|
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
|
NM_001927.4(DES):c.254_255insT (p.Gly86fs)
|
|
|
NM_001927.4(DES):c.258C>G (p.Gly86=)
|
rs994454109
|
|
NM_001927.4(DES):c.258C>T (p.Gly86=)
|
|
|
NM_001927.4(DES):c.268G>C (p.Asp90His)
|
rs1267102255
|
|
NM_001927.4(DES):c.269A>T (p.Asp90Val)
|
|
|
NM_001927.4(DES):c.275C>T (p.Ser92Leu)
|
|
|
NM_001927.4(DES):c.280G>A (p.Ala94Thr)
|
|
|
NM_001927.4(DES):c.284A>T (p.Asp95Val)
|
|
|
NM_001927.4(DES):c.285C>T (p.Asp95=)
|
|
|
NM_001927.4(DES):c.286G>T (p.Ala96Ser)
|
rs201190593
|
|
NM_001927.4(DES):c.28C>A (p.Arg10Ser)
|
rs1196125127
|
|
NM_001927.4(DES):c.291G>A (p.Val97=)
|
|
|
NM_001927.4(DES):c.295C>G (p.Gln99Glu)
|
rs794728992
|
|
NM_001927.4(DES):c.298G>A (p.Glu100Lys)
|
|
|
NM_001927.4(DES):c.2T>C (p.Met1Thr)
|
|
|
NM_001927.4(DES):c.306G>A (p.Leu102=)
|
|
|
NM_001927.4(DES):c.309del (p.Thr104fs)
|
|
|
NM_001927.4(DES):c.310A>G (p.Thr104Ala)
|
rs1559352310
|
|
NM_001927.4(DES):c.311C>T (p.Thr104Met)
|
|
|
NM_001927.4(DES):c.313C>T (p.Arg105Cys)
|
rs794728993
|
|
NM_001927.4(DES):c.314G>T (p.Arg105Leu)
|
|
|
NM_001927.4(DES):c.320A>C (p.Asn107Thr)
|
|
|
NM_001927.4(DES):c.322G>A (p.Glu108Lys)
|
rs62636490
|
|
NM_001927.4(DES):c.322G>T (p.Glu108Ter)
|
rs62636490
|
|
NM_001927.4(DES):c.323A>G (p.Glu108Gly)
|
|
|
NM_001927.4(DES):c.324G>A (p.Glu108=)
|
rs138677215
|
|
NM_001927.4(DES):c.325A>G (p.Lys109Glu)
|
|
|
NM_001927.4(DES):c.326A>G (p.Lys109Arg)
|
|
|
NM_001927.4(DES):c.328G>C (p.Val110Leu)
|
rs373081285
|
|
NM_001927.4(DES):c.335T>G (p.Leu112Arg)
|
|
|
NM_001927.4(DES):c.347A>G (p.Asn116Ser)
|
rs267607499
|
|
NM_001927.4(DES):c.347A>T (p.Asn116Ile)
|
rs267607499
|
|
NM_001927.4(DES):c.348T>C (p.Asn116=)
|
|
|
NM_001927.4(DES):c.349G>C (p.Asp117His)
|
|
|
NM_001927.4(DES):c.352C>A (p.Arg118Ser)
|
rs1188232371
|
|
NM_001927.4(DES):c.357C>T (p.Phe119=)
|
|
|
NM_001927.4(DES):c.359C>A (p.Ala120Asp)
|
|
|
NM_001927.4(DES):c.35C>T (p.Ser12Phe)
|
rs267607495
|
|
NM_001927.4(DES):c.360C>T (p.Ala120=)
|
rs1553603246
|
|
NM_001927.4(DES):c.361A>C (p.Asn121His)
|
|
|
NM_001927.4(DES):c.367A>G (p.Ile123Val)
|
|
|
NM_001927.4(DES):c.371A>C (p.Glu124Ala)
|
rs564121737
|
|
NM_001927.4(DES):c.371A>G (p.Glu124Gly)
|
|
|
NM_001927.4(DES):c.372G>A (p.Glu124=)
|
rs34365369
|
|
NM_001927.4(DES):c.373A>T (p.Lys125Ter)
|
rs886043000
|
|
NM_001927.4(DES):c.376G>T (p.Val126Leu)
|
rs876657770
|
|
NM_001927.4(DES):c.379C>G (p.Arg127Gly)
|
|
|
NM_001927.4(DES):c.37T>C (p.Ser13Pro)
|
|
|
NM_001927.4(DES):c.380G>C (p.Arg127Pro)
|
rs397516694
|
|
NM_001927.4(DES):c.38C>A (p.Ser13Tyr)
|
rs62636495
|
|
NM_001927.4(DES):c.38C>T (p.Ser13Phe)
|
rs62636495
|
|
NM_001927.4(DES):c.391C>A (p.Gln131Lys)
|
rs771499260
|
|
NM_001927.4(DES):c.394C>T (p.Gln132Ter)
|
rs1060503165
|
|
NM_001927.4(DES):c.404C>G (p.Ala135Gly)
|
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
NM_001927.4(DES):c.406C>G (p.Leu136Val)
|
|
|
NM_001927.4(DES):c.407T>A (p.Leu136His)
|
rs397516695
|
|
NM_001927.4(DES):c.408C>T (p.Leu136=)
|
rs111828114
|
|
NM_001927.4(DES):c.410C>A (p.Ala137Asp)
|
rs775115627
|
|
NM_001927.4(DES):c.415G>A (p.Glu139Lys)
|
rs763769862
|
|
NM_001927.4(DES):c.427C>G (p.Leu143Val)
|
|
|
NM_001927.4(DES):c.434G>A (p.Gly145Asp)
|
rs1553603267
|
|
NM_001927.4(DES):c.444G>A (p.Pro148=)
|
|
|
NM_001927.4(DES):c.447G>C (p.Thr149=)
|
rs1575013396
|
|
NM_001927.4(DES):c.449G>A (p.Arg150Gln)
|
rs876661344
|
|
NM_001927.4(DES):c.452_459del (p.Val151fs)
|
|
|
NM_001927.4(DES):c.45C>T (p.Arg15=)
|
rs1575012917
|
|
NM_001927.4(DES):c.461T>A (p.Leu154His)
|
rs755106109
|
|
NM_001927.4(DES):c.467A>T (p.Glu156Val)
|
|
|
NM_001927.4(DES):c.469G>A (p.Glu157Lys)
|
|
|
NM_001927.4(DES):c.488G>A (p.Arg163Gln)
|
rs1457012198
|
|
NM_001927.4(DES):c.488_505dup (p.Arg163_Val168dup)
|
|
|
NM_001927.4(DES):c.489G>A (p.Arg163=)
|
rs1448975712
|
|
NM_001927.4(DES):c.50C>A (p.Thr17Asn)
|
|
|
NM_001927.4(DES):c.514C>T (p.Gln172Ter)
|
rs1559352440
|
|
NM_001927.4(DES):c.517C>A (p.Arg173Ser)
|
|
|
NM_001927.4(DES):c.519C>A (p.Arg173=)
|
|
|
NM_001927.4(DES):c.524G>A (p.Arg175His)
|
rs878854472
|
|
NM_001927.4(DES):c.525C>A (p.Arg175=)
|
|
|
NM_001927.4(DES):c.525_526del (p.Val176fs)
|
|
|
NM_001927.4(DES):c.540C>T (p.Arg180=)
|
rs757644636
|
|
NM_001927.4(DES):c.541G>C (p.Asp181His)
|
rs1297244198
|
|
NM_001927.4(DES):c.543C>T (p.Asp181=)
|
|
|
NM_001927.4(DES):c.544_555del (p.Asn182_Asp185del)
|
|
|
NM_001927.4(DES):c.552C>T (p.Leu184=)
|
rs1050510822
|
|
NM_001927.4(DES):c.556G>T (p.Asp186Tyr)
|
rs878854473
|
|
NM_001927.4(DES):c.558C>G (p.Asp186Glu)
|
rs1575013561
|
|
NM_001927.4(DES):c.559C>T (p.Leu187=)
|
|
|
NM_001927.4(DES):c.55G>C (p.Gly19Arg)
|
rs936853024
|
|
NM_001927.4(DES):c.560T>G (p.Leu187Arg)
|
|
|
NM_001927.4(DES):c.565C>T (p.Arg189Trp)
|
rs1223277151
|
|
NM_001927.4(DES):c.566G>A (p.Arg189Gln)
|
rs1025323214
|
|
NM_001927.4(DES):c.571A>G (p.Lys191Glu)
|
|
|
NM_001927.4(DES):c.578+10C>T
|
rs969392028
|
|
NM_001927.4(DES):c.579-5C>A
|
rs886042889
|
|
NM_001927.4(DES):c.58G>A (p.Gly20Arg)
|
rs759306707
|
|
NM_001927.4(DES):c.598T>C (p.Leu200=)
|
rs1320454372
|
|
NM_001927.4(DES):c.5G>T (p.Ser2Ile)
|
rs58999456
|
|
NM_001927.4(DES):c.600G>A (p.Leu200=)
|
rs1575014014
|
|
NM_001927.4(DES):c.603G>C (p.Lys201Asn)
|
rs765376573
|
|
NM_001927.4(DES):c.609A>C (p.Glu203Asp)
|
rs369495436
|
|
NM_001927.4(DES):c.60G>A (p.Gly20=)
|
|
|
NM_001927.4(DES):c.610G>T (p.Ala204Ser)
|
rs1575014034
|
|
NM_001927.4(DES):c.615G>A (p.Glu205=)
|
rs1295010624
|
|
NM_001927.4(DES):c.623T>C (p.Leu208Ser)
|
rs373062962
|
|
NM_001927.4(DES):c.629C>T (p.Ala210Val)
|
rs1060503169
|
|
NM_001927.4(DES):c.62C>A (p.Ala21Asp)
|
|
|
NM_001927.4(DES):c.634C>T (p.Arg212Ter)
|
rs781590560
|
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
|
NM_001927.4(DES):c.637G>A (p.Ala213Thr)
|
rs918962036
|
|
NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
|
NM_001927.4(DES):c.639+13_639+15del
|
rs876657448
|
|
NM_001927.4(DES):c.639G>A (p.Ala213=)
|
rs377337947
|
|
NM_001927.4(DES):c.63C>T (p.Ala21=)
|
rs201458068
|
|
NM_001927.4(DES):c.640-10C>T
|
|
|
NM_001927.4(DES):c.640-4C>G
|
rs375680081
|
|
NM_001927.4(DES):c.642C>T (p.Asp214=)
|
rs370239228
|
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
|
NM_001927.4(DES):c.656C>T (p.Thr219Ile)
|
rs144901249
|
|
NM_001927.4(DES):c.65C>G (p.Pro22Arg)
|
rs748158450
|
|
NM_001927.4(DES):c.662C>T (p.Ala221Val)
|
rs746814065
|
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
|
NM_001927.4(DES):c.669T>C (p.Ile223=)
|
rs75882680
|
|
NM_001927.4(DES):c.669_670delinsCC (p.Asp224His)
|
|
|
NM_001927.4(DES):c.66G>A (p.Pro22=)
|
|
|
NM_001927.4(DES):c.679C>T (p.Arg227Cys)
|
rs767743962
|
|
NM_001927.4(DES):c.680G>A (p.Arg227His)
|
rs141486420
|
|
NM_001927.4(DES):c.680G>T (p.Arg227Leu)
|
|
|
NM_001927.4(DES):c.690A>G (p.Glu230=)
|
rs142145822
|
|
NM_001927.4(DES):c.694C>T (p.Leu232Phe)
|
rs764764823
|
|
NM_001927.4(DES):c.696C>T (p.Leu232=)
|
|
|
NM_001927.4(DES):c.699C>T (p.Asn233=)
|
rs758066814
|
|
NM_001927.4(DES):c.700G>A (p.Glu234Lys)
|
rs774739275
|
|
NM_001927.4(DES):c.708C>T (p.Ile236=)
|
rs886044078
|
|
NM_001927.4(DES):c.709G>A (p.Ala237Thr)
|
rs397516697
|
|
NM_001927.4(DES):c.711G>A (p.Ala237=)
|
rs757102249
|
|
NM_001927.4(DES):c.718A>G (p.Lys240Glu)
|
|
|
NM_001927.4(DES):c.727C>T (p.His243Tyr)
|
rs769647148
|
|
NM_001927.4(DES):c.734A>G (p.Glu245Gly)
|
rs1575014243
|
|
NM_001927.4(DES):c.735+10G>A
|
|
|
NM_001927.4(DES):c.735+1G>A
|
rs397516698
|
|
NM_001927.4(DES):c.735+1G>T
|
rs397516698
|
|
NM_001927.4(DES):c.735+3A>G
|
rs267607483
|
|
NM_001927.4(DES):c.735+3A>T
|
rs267607483
|
|
NM_001927.4(DES):c.735+6C>T
|
|
|
NM_001927.4(DES):c.735G>A (p.Glu245=)
|
rs267607486
|
|
NM_001927.4(DES):c.735_735+3dup
|
|
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
|
NM_001927.4(DES):c.736-9G>A
|
rs1553603433
|
|
NM_001927.4(DES):c.738G>C (p.Glu246Asp)
|
|
|
NM_001927.4(DES):c.742C>T (p.Arg248Cys)
|
rs772117708
|
|
NM_001927.4(DES):c.746A>C (p.Glu249Ala)
|
|
|
NM_001927.4(DES):c.74_75insGCTCGGCTCCCC (p.Gly27_Leu30dup)
|
|
|
NM_001927.4(DES):c.75A>G (p.Pro25=)
|
rs1318299
|
|
NM_001927.4(DES):c.75A>T (p.Pro25=)
|
|
|
NM_001927.4(DES):c.761T>G (p.Leu254Arg)
|
rs1559352926
|
|
NM_001927.4(DES):c.767A>G (p.Glu256Gly)
|
rs1553603440
|
|
NM_001927.4(DES):c.770A>G (p.Gln257Arg)
|
|
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
|
NM_001927.4(DES):c.792C>T (p.Asp264=)
|
rs150370918
|
|
NM_001927.4(DES):c.796T>C (p.Ser266Pro)
|
|
|
NM_001927.4(DES):c.79G>A (p.Gly27Ser)
|
rs727504877
|
|
NM_001927.4(DES):c.7C>T (p.Gln3Ter)
|
|
|
NM_001927.4(DES):c.802C>G (p.Pro268Ala)
|
rs1434613160
|
|
NM_001927.4(DES):c.80G>A (p.Gly27Asp)
|
rs1575012966
|
|
NM_001927.4(DES):c.816C>T (p.Ala272=)
|
rs759823001
|
|
NM_001927.4(DES):c.817G>A (p.Ala273Thr)
|
|
|
NM_001927.4(DES):c.817G>T (p.Ala273Ser)
|
rs770258461
|
|
NM_001927.4(DES):c.822C>T (p.Leu274=)
|
rs763599850
|
|
NM_001927.4(DES):c.826G>A (p.Asp276Asn)
|
|
|
NM_001927.4(DES):c.828C>T (p.Asp276=)
|
rs1058261
|
|
NM_001927.4(DES):c.830T>A (p.Ile277Asn)
|
|
|
NM_001927.4(DES):c.832C>T (p.Arg278Trp)
|
rs794728985
|
|
NM_001927.4(DES):c.833G>C (p.Arg278Pro)
|
rs761475402
|
|
NM_001927.4(DES):c.839A>G (p.Gln280Arg)
|
rs750160975
|
|
NM_001927.4(DES):c.840G>A (p.Gln280=)
|
|
|
NM_001927.4(DES):c.840G>C (p.Gln280His)
|
|
|
NM_001927.4(DES):c.853G>A (p.Ala285Thr)
|
rs876657771
|
|
NM_001927.4(DES):c.855G>A (p.Ala285=)
|
|
|
NM_001927.4(DES):c.858T>C (p.Ala286=)
|
|
|
NM_001927.4(DES):c.869C>A (p.Ser290Tyr)
|
rs981782522
|
|
NM_001927.4(DES):c.86C>T (p.Pro29Leu)
|
|
|
NM_001927.4(DES):c.883T>G (p.Trp295Gly)
|
rs794728986
|
|
NM_001927.4(DES):c.885G>A (p.Trp295Ter)
|
|
|
NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
|
NM_001927.4(DES):c.894G>A (p.Ser298=)
|
rs747073500
|
|
NM_001927.4(DES):c.897+10C>T
|
|
|
NM_001927.4(DES):c.897+4G>A
|
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
NM_001927.4(DES):c.897+6T>G
|
|
|
NM_001927.4(DES):c.898-5C>T
|
rs371053066
|
|
NM_001927.4(DES):c.898-6C>T
|
|
|
NM_001927.4(DES):c.8A>G (p.Gln3Arg)
|
|
|
NM_001927.4(DES):c.906C>A (p.Asp302Glu)
|
|
|
NM_001927.4(DES):c.912C>A (p.Thr304=)
|
|
|
NM_001927.4(DES):c.912C>T (p.Thr304=)
|
rs778826152
|
|
NM_001927.4(DES):c.924C>T (p.Asn308=)
|
rs578191306
|
|
NM_001927.4(DES):c.933C>T (p.Asn311=)
|
rs756434148
|
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
|
NM_001927.4(DES):c.937G>A (p.Ala313Thr)
|
rs766252091
|
|
NM_001927.4(DES):c.939C>T (p.Ala313=)
|
rs1060504848
|
|
NM_001927.4(DES):c.93T>C (p.Ser31=)
|
rs2017800
|
|
NM_001927.4(DES):c.93T>G (p.Ser31Arg)
|
rs2017800
|
|
NM_001927.4(DES):c.943C>T (p.Arg315Cys)
|
rs748742357
|
|
NM_001927.4(DES):c.944G>A (p.Arg315His)
|
rs771455648
|
|
NM_001927.4(DES):c.973C>T (p.Arg325Ter)
|
|
|
NM_001927.4(DES):c.974G>A (p.Arg325Gln)
|
rs766035912
|
|
NM_001927.4(DES):c.976C>T (p.His326Tyr)
|
rs794728987
|
|
NM_001927.4(DES):c.986A>C (p.Gln329Pro)
|
rs1060503168
|
|
NM_001927.4(DES):c.992A>C (p.Tyr331Ser)
|
|
|
NM_001927.4(DES):c.993C>T (p.Tyr331=)
|
|
|
NM_001927.4(DES):c.995C>T (p.Thr332Ile)
|
rs368453327
|
|
NM_001927.4(DES):c.999C>T (p.Cys333=)
|
rs1157722667
|
|
NM_001927.4(DES):c.99C>T (p.Pro33=)
|
rs774006810
|
|
NM_006790.2(MYOT):c.1008G>T (p.Val336=)
|
rs142828368
|
|
NM_006790.2(MYOT):c.1102C>T (p.Leu368=)
|
rs747319274
|
|
NM_006790.2(MYOT):c.1139T>C (p.Leu380Pro)
|
rs902179316
|
|
NM_006790.2(MYOT):c.1152A>G (p.Arg384=)
|
rs199541037
|
|
NM_006790.2(MYOT):c.1159G>A (p.Glu387Lys)
|
rs373489115
|
|
NM_006790.2(MYOT):c.1190+7T>C
|
rs192405601
|
|
NM_006790.2(MYOT):c.1195T>C (p.Tyr399His)
|
rs147239483
|
|
NM_006790.2(MYOT):c.1203T>A (p.Asp401Glu)
|
rs78633961
|
|
NM_006790.2(MYOT):c.120T>A (p.Ile40=)
|
rs139254363
|
|
NM_006790.2(MYOT):c.1275A>G (p.Ala425=)
|
rs140678912
|
|
NM_006790.2(MYOT):c.1275A>T (p.Ala425=)
|
rs140678912
|
|
NM_006790.2(MYOT):c.1286C>G (p.Ala429Gly)
|
rs144731446
|
|
NM_006790.2(MYOT):c.1300T>C (p.Cys434Arg)
|
rs769872126
|
|
NM_006790.2(MYOT):c.1317C>T (p.Asp439=)
|
rs147891371
|
|
NM_006790.2(MYOT):c.1335C>T (p.Asn445=)
|
rs769506328
|
|
NM_006790.2(MYOT):c.1345C>G (p.Pro449Ala)
|
rs766650528
|
|
NM_006790.2(MYOT):c.1364G>A (p.Arg455Gln)
|
rs141801816
|
|
NM_006790.2(MYOT):c.1364G>C (p.Arg455Pro)
|
rs141801816
|
|
NM_006790.2(MYOT):c.1398T>G (p.Leu466=)
|
rs150033934
|
|
NM_006790.2(MYOT):c.1401T>A (p.Asn467Lys)
|
rs145427063
|
|
NM_006790.2(MYOT):c.1401T>C (p.Asn467=)
|
rs145427063
|
|
NM_006790.2(MYOT):c.1404G>C (p.Gly468=)
|
rs200075800
|
|
NM_006790.2(MYOT):c.1413G>T (p.Leu471Phe)
|
rs146426896
|
|
NM_006790.2(MYOT):c.1439A>G (p.Glu480Gly)
|
rs727504026
|
|
NM_006790.2(MYOT):c.1453C>T (p.Arg485Cys)
|
rs140755418
|
|
NM_006790.2(MYOT):c.145G>C (p.Glu49Gln)
|
rs199760778
|
|
NM_006790.2(MYOT):c.1497A>T (p.Ter499Tyr)
|
rs779978043
|
|
NM_006790.2(MYOT):c.149A>G (p.Gln50Arg)
|
rs34717730
|
|
NM_006790.2(MYOT):c.164C>T (p.Ser55Phe)
|
rs121908457
|
|
NM_006790.2(MYOT):c.170C>T (p.Thr57Ile)
|
rs28937597
|
|
NM_006790.2(MYOT):c.179C>G (p.Ser60Cys)
|
rs121908458
|
|
NM_006790.2(MYOT):c.17G>A (p.Arg6His)
|
rs387906882
|
|
NM_006790.2(MYOT):c.182A>C (p.His61Pro)
|
rs372276337
|
|
NM_006790.2(MYOT):c.1A>T (p.Met1Leu)
|
rs1561657261
|
|
NM_006790.2(MYOT):c.220C>A (p.Gln74Lys)
|
rs6890689
|
|
NM_006790.2(MYOT):c.240C>T (p.Asn80=)
|
rs529067126
|
|
NM_006790.2(MYOT):c.257C>A (p.Thr86Lys)
|
rs1205992276
|
|
NM_006790.2(MYOT):c.323A>C (p.Asn108Thr)
|
rs142416150
|
|
NM_006790.2(MYOT):c.335T>A (p.Ile112Asn)
|
rs752723849
|
|
NM_006790.2(MYOT):c.342C>T (p.Ser114=)
|
rs34593399
|
|
NM_006790.2(MYOT):c.343G>A (p.Ala115Thr)
|
rs114194130
|
|
NM_006790.2(MYOT):c.343G>T (p.Ala115Ser)
|
rs114194130
|
|
NM_006790.2(MYOT):c.387A>G (p.Ile129Met)
|
rs1554102960
|
|
NM_006790.2(MYOT):c.391G>T (p.Ala131Ser)
|
rs1554102961
|
|
NM_006790.2(MYOT):c.392C>A (p.Ala131Glu)
|
rs982468554
|
|
NM_006790.2(MYOT):c.398C>T (p.Pro133Leu)
|
rs779568205
|
|
NM_006790.2(MYOT):c.445G>C (p.Glu149Gln)
|
rs71578935
|
|
NM_006790.2(MYOT):c.471G>A (p.Leu157=)
|
rs762886873
|
|
NM_006790.2(MYOT):c.533G>A (p.Arg178His)
|
rs150293853
|
|
NM_006790.2(MYOT):c.563G>T (p.Arg188Ile)
|
rs370165036
|
|
NM_006790.2(MYOT):c.571G>C (p.Gly191Arg)
|
rs199789331
|
|
NM_006790.2(MYOT):c.594G>A (p.Val198=)
|
rs372287923
|
|
NM_006790.2(MYOT):c.617G>A (p.Gly206Asp)
|
rs151094883
|
|
NM_006790.2(MYOT):c.61T>C (p.Leu21=)
|
rs150786535
|
|
NM_006790.2(MYOT):c.629C>T (p.Ser210Leu)
|
rs756669574
|
|
NM_006790.2(MYOT):c.630G>A (p.Ser210=)
|
rs375308029
|
|
NM_006790.2(MYOT):c.650A>G (p.His217Arg)
|
rs758565747
|
|
NM_006790.2(MYOT):c.653C>A (p.Ala218Glu)
|
rs533510304
|
|
NM_006790.2(MYOT):c.656G>A (p.Arg219Gln)
|
rs745792335
|
|
NM_006790.2(MYOT):c.683+10T>A
|
rs1296659208
|
|
NM_006790.2(MYOT):c.758T>C (p.Ile253Thr)
|
rs201113539
|
|
NM_006790.2(MYOT):c.780G>A (p.Ser260=)
|
rs116773838
|
|
NM_006790.2(MYOT):c.782T>C (p.Ile261Thr)
|
rs764439615
|
|
NM_006790.2(MYOT):c.784G>C (p.Asp262His)
|
rs1271782226
|
|
NM_006790.2(MYOT):c.816+5G>T
|
rs750433300
|
|
NM_006790.2(MYOT):c.822T>C (p.Ser274=)
|
rs138678049
|
|
NM_006790.2(MYOT):c.83C>T (p.Thr28Ile)
|
rs767662244
|
|
NM_006790.2(MYOT):c.86C>T (p.Ser29Phe)
|
rs1580847200
|
|
NM_006790.2(MYOT):c.870T>A (p.Val290=)
|
rs946857518
|
|
NM_006790.2(MYOT):c.937G>A (p.Val313Ile)
|
rs760955035
|
|
NM_006790.2(MYOT):c.981T>C (p.Asn327=)
|
rs148479015
|
|
NM_006790.2(MYOT):c.98G>T (p.Ser33Ile)
|
rs1554102559
|
|
NM_006790.2(MYOT):c.999C>A (p.Thr333=)
|
rs1320608556
|
|
NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn)
|
|
|
NM_006790.3(MYOT):c.1020C>T (p.Val340=)
|
|
|
NM_006790.3(MYOT):c.1025-3T>C
|
|
|
NM_006790.3(MYOT):c.1025-5T>C
|
rs200696022
|
|
NM_006790.3(MYOT):c.1084G>C (p.Glu362Gln)
|
|
|
NM_006790.3(MYOT):c.1122del (p.Ile375fs)
|
|
|
NM_006790.3(MYOT):c.1128T>C (p.Pro376=)
|
|
|
NM_006790.3(MYOT):c.1184G>A (p.Arg395Gln)
|
|
|
NM_006790.3(MYOT):c.1194A>G (p.Leu398=)
|
|
|
NM_006790.3(MYOT):c.1236T>C (p.Asp412=)
|
|
|
NM_006790.3(MYOT):c.1266T>A (p.Thr422=)
|
|
|
NM_006790.3(MYOT):c.1291G>A (p.Val431Met)
|
|
|
NM_006790.3(MYOT):c.1325-4T>A
|
rs544136408
|
|
NM_006790.3(MYOT):c.1346del (p.Pro449fs)
|
rs780331457
|
|
NM_006790.3(MYOT):c.1370G>A (p.Arg457Gln)
|
|
|
NM_006790.3(MYOT):c.137A>T (p.Gln46Leu)
|
|
|
NM_006790.3(MYOT):c.1418T>C (p.Val473Ala)
|
|
|
NM_006790.3(MYOT):c.1442G>A (p.Gly481Glu)
|
|
|
NM_006790.3(MYOT):c.1457T>C (p.Leu486Ser)
|
|
|
NM_006790.3(MYOT):c.1471G>A (p.Gly491Arg)
|
|
|
NM_006790.3(MYOT):c.147G>C (p.Glu49Asp)
|
|
|
NM_006790.3(MYOT):c.151A>G (p.Arg51Gly)
|
|
|
NM_006790.3(MYOT):c.220= (p.Gln74=)
|
rs6890689
|
|
NM_006790.3(MYOT):c.232G>A (p.Gly78Ser)
|
|
|
NM_006790.3(MYOT):c.252G>C (p.Arg84Ser)
|
|
|
NM_006790.3(MYOT):c.385A>G (p.Ile129Val)
|
|
|
NM_006790.3(MYOT):c.420G>A (p.Lys140=)
|
|
|
NM_006790.3(MYOT):c.436C>T (p.Pro146Ser)
|
|
|
NM_006790.3(MYOT):c.449T>C (p.Ile150Thr)
|
|
|
NM_006790.3(MYOT):c.490A>C (p.Lys164Gln)
|
|
|
NM_006790.3(MYOT):c.511C>T (p.Leu171Phe)
|
|
|
NM_006790.3(MYOT):c.524G>A (p.Gly175Glu)
|
|
|
NM_006790.3(MYOT):c.532-5T>C
|
|
|
NM_006790.3(MYOT):c.560G>A (p.Arg187His)
|
|
|
NM_006790.3(MYOT):c.609T>A (p.Asp203Glu)
|
|
|
NM_006790.3(MYOT):c.642C>A (p.Asn214Lys)
|
|
|
NM_006790.3(MYOT):c.642C>T (p.Asn214=)
|
|
|
NM_006790.3(MYOT):c.654G>A (p.Ala218=)
|
rs142477496
|
|
NM_006790.3(MYOT):c.655C>T (p.Arg219Ter)
|
|
|
NM_006790.3(MYOT):c.660G>C (p.Leu220=)
|
|
|
NM_006790.3(MYOT):c.67C>A (p.Pro23Thr)
|
|
|
NM_006790.3(MYOT):c.680_683del (p.Val227fs)
|
|
|
NM_006790.3(MYOT):c.683+8del
|
rs760217241
|
|
NM_006790.3(MYOT):c.684-7C>T
|
rs751768323
|
|
NM_006790.3(MYOT):c.686G>A (p.Ser229Asn)
|
|
|
NM_006790.3(MYOT):c.701G>A (p.Arg234Lys)
|
|
|
NM_006790.3(MYOT):c.751C>T (p.Arg251Cys)
|
|
|
NM_006790.3(MYOT):c.752G>A (p.Arg251His)
|
|
|
NM_006790.3(MYOT):c.859G>A (p.Gly287Arg)
|
rs374221793
|
|
NM_006790.3(MYOT):c.888C>T (p.His296=)
|
rs565902195
|
|
NM_006790.3(MYOT):c.943G>A (p.Ala315Thr)
|
|
|
NM_006790.3(MYOT):c.951T>C (p.Asp317=)
|
|
|
NM_006790.3(MYOT):c.951T>G (p.Asp317Glu)
|
|
|
NM_006790.3(MYOT):c.966A>G (p.Ala322=)
|
|
|
NM_007078.2(LDB3):c.-23-?_93+?dup
|
|
|
NM_007078.3(LDB3):c.1014A>G (p.Thr338=)
|
rs150209221
|
|
NM_007078.3(LDB3):c.1017T>G (p.Ala339=)
|
rs727504526
|
|
NM_007078.3(LDB3):c.1018G>C (p.Ala340Pro)
|
rs755329877
|
|
NM_007078.3(LDB3):c.1035C>T (p.Ile345=)
|
rs121908336
|
|
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr)
|
rs201968775
|
|
NM_007078.3(LDB3):c.1041C>A (p.Ser347=)
|
rs45555240
|
|
NM_007078.3(LDB3):c.1041C>T (p.Ser347=)
|
rs45555240
|
|
NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr)
|
rs147042608
|
|
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile)
|
rs200796750
|
|
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala)
|
rs138251566
|
|
NM_007078.3(LDB3):c.1053A>T (p.Thr351=)
|
|
|
NM_007078.3(LDB3):c.1071T>A (p.Pro357=)
|
rs143823978
|
|
NM_007078.3(LDB3):c.1074C>T (p.Ala358=)
|
rs45459491
|
|
NM_007078.3(LDB3):c.1075G>A (p.Asp359Asn)
|
rs557956141
|
|
NM_007078.3(LDB3):c.1086-247_1231+2del
|
rs1564653469
|
|
NM_007078.3(LDB3):c.1092G>A (p.Gln364=)
|
|
|
NM_007078.3(LDB3):c.1094C>T (p.Ala365Val)
|
|
|
NM_007078.3(LDB3):c.1105A>G (p.Ser369Gly)
|
rs181700296
|
|
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr)
|
rs45539535
|
|
NM_007078.3(LDB3):c.1119C>T (p.Ala373=)
|
rs773647394
|
|
NM_007078.3(LDB3):c.1121C>T (p.Ala374Val)
|
rs1554860812
|
|
NM_007078.3(LDB3):c.1132C>T (p.Pro378Ser)
|
rs373546361
|
|
NM_007078.3(LDB3):c.1147A>G (p.Ser383Gly)
|
|
|
NM_007078.3(LDB3):c.1150T>A (p.Tyr384Asn)
|
rs1554860857
|
|
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly)
|
rs777547764
|
|
NM_007078.3(LDB3):c.115G>C (p.Ala39Pro)
|
|
|
NM_007078.3(LDB3):c.1164C>T (p.Pro388=)
|
rs780108812
|
|
NM_007078.3(LDB3):c.1165G>A (p.Ala389Thr)
|
rs924634578
|
|
NM_007078.3(LDB3):c.1167C>T (p.Ala389=)
|
rs768844187
|
|
NM_007078.3(LDB3):c.1200T>G (p.Thr400=)
|
rs1447980981
|
|
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln)
|
rs150868546
|
|
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys)
|
rs139104492
|
|
NM_007078.3(LDB3):c.1231G>C (p.Val411Leu)
|
|
|
NM_007078.3(LDB3):c.1232-8T>G
|
|
|
NM_007078.3(LDB3):c.123C>T (p.Ser41=)
|
|
|
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg)
|
rs141870580
|
|
NM_007078.3(LDB3):c.1253C>T (p.Pro418Leu)
|
rs141870580
|
|
NM_007078.3(LDB3):c.1254G>A (p.Pro418=)
|
rs145942370
|
|
NM_007078.3(LDB3):c.1256C>A (p.Ser419Tyr)
|
rs368888118
|
|
NM_007078.3(LDB3):c.1263G>A (p.Gly421=)
|
rs139834701
|
|
NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn)
|
rs746183666
|
|
NM_007078.3(LDB3):c.1294del (p.Ser432fs)
|
|
|
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1])
|
rs397517209
|
|
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[3] (p.434APAYTPSP[3])
|
rs397517209
|
|
NM_007078.3(LDB3):c.1312A>G (p.Thr438Ala)
|
rs111941389
|
|
NM_007078.3(LDB3):c.1313C>A (p.Thr438Asn)
|
|
|
NM_007078.3(LDB3):c.1313C>G (p.Thr438Ser)
|
rs767914340
|
|
NM_007078.3(LDB3):c.1317C>T (p.Pro439=)
|
rs397517208
|
|
NM_007078.3(LDB3):c.1321C>T (p.Pro441Ser)
|
rs757728320
|
|
NM_007078.3(LDB3):c.1328C>T (p.Pro443Leu)
|
rs1554863327
|
|
NM_007078.3(LDB3):c.1335C>T (p.Tyr445=)
|
rs587781024
|
|
NM_007078.3(LDB3):c.1337C>T (p.Thr446Ile)
|
|
|
NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala)
|
rs397517211
|
|
NM_007078.3(LDB3):c.1351C>G (p.Pro451Ala)
|
|
|
NM_007078.3(LDB3):c.1361C>T (p.Thr454Ile)
|
|
|
NM_007078.3(LDB3):c.1381T>G (p.Tyr461Asp)
|
rs145655904
|
|
NM_007078.3(LDB3):c.1386C>T (p.Thr462=)
|
rs764330273
|
|
NM_007078.3(LDB3):c.139G>A (p.Asp47Asn)
|
rs397517212
|
|
NM_007078.3(LDB3):c.1403A>G (p.Asn468Ser)
|
rs730880129
|
|
NM_007078.3(LDB3):c.1418C>A (p.Pro473His)
|
|
|
NM_007078.3(LDB3):c.1421C>T (p.Ser474Leu)
|
rs1011836119
|
|
NM_007078.3(LDB3):c.1422G>A (p.Ser474=)
|
rs142625982
|
|
NM_007078.3(LDB3):c.1426G>T (p.Ala476Ser)
|
|
|
NM_007078.3(LDB3):c.1434C>T (p.Ser478=)
|
|
|
NM_007078.3(LDB3):c.1435G>A (p.Gly479Arg)
|
rs370521488
|
|
NM_007078.3(LDB3):c.1442C>G (p.Pro481Arg)
|
rs12761754
|
|
NM_007078.3(LDB3):c.1445C>T (p.Ala482Val)
|
rs774313535
|
|
NM_007078.3(LDB3):c.1446G>A (p.Ala482=)
|
|
|
NM_007078.3(LDB3):c.144C>T (p.Leu48=)
|
rs397517213
|
|
NM_007078.3(LDB3):c.1453G>T (p.Ala485Ser)
|
rs397517214
|
|
NM_007078.3(LDB3):c.1457dup (p.Ser486fs)
|
|
|
NM_007078.3(LDB3):c.1458C>T (p.Ser486=)
|
|
|
NM_007078.3(LDB3):c.1459C>T (p.Arg487Cys)
|
|
|
NM_007078.3(LDB3):c.145G>A (p.Val49Met)
|
|
|
NM_007078.3(LDB3):c.145G>C (p.Val49Leu)
|
|
|
NM_007078.3(LDB3):c.1460G>A (p.Arg487His)
|
rs146265188
|
|
NM_007078.3(LDB3):c.1468T>C (p.Trp490Arg)
|
rs1589675054
|
|
NM_007078.3(LDB3):c.1471G>A (p.Val491Met)
|
|
|
NM_007078.3(LDB3):c.1471G>T (p.Val491Leu)
|
rs397517215
|
|
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu)
|
rs139709036
|
|
NM_007078.3(LDB3):c.147G>A (p.Val49=)
|
rs45591834
|
|
NM_007078.3(LDB3):c.1487T>C (p.Phe496Ser)
|
rs147072071
|
|
NM_007078.3(LDB3):c.1497G>T (p.Lys499Asn)
|
rs1278770988
|
|
NM_007078.3(LDB3):c.149T>C (p.Val50Ala)
|
|
|
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val)
|
rs755362259
|
|
NM_007078.3(LDB3):c.1503C>T (p.Ala501=)
|
rs147692024
|
|
NM_007078.3(LDB3):c.1505C>T (p.Pro502Leu)
|
rs528611881
|
|
NM_007078.3(LDB3):c.1506G>A (p.Pro502=)
|
rs45579241
|