NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_144997.7(FLCN):c.1432+1G>C
|
rs755959303
|
0.00001
|
NM_144997.7(FLCN):c.1433-2A>G
|
rs398124528
|
0.00001
|
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)
|
rs398124529
|
0.00001
|
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)
|
rs879255683
|
0.00001
|
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs)
|
rs753009073
|
0.00001
|
NM_144997.7(FLCN):c.367C>T (p.Gln123Ter)
|
rs2047242821
|
0.00001
|
NM_144997.7(FLCN):c.490del (p.Arg164fs)
|
rs1414696397
|
0.00001
|
NM_144997.7(FLCN):c.764A>C (p.His255Pro)
|
rs879255665
|
0.00001
|
NM_144997.7(FLCN):c.779+1G>T
|
rs758175953
|
0.00001
|
NC_000017.10:g.(?_17116047)_(17118400_?)del
|
|
|
NC_000017.10:g.(?_17116310)_(17117959_?)del
|
|
|
NC_000017.10:g.(?_17116969)_(17117180_?)del
|
|
|
NC_000017.10:g.(?_17116969)_(17119827_?)del
|
|
|
NC_000017.10:g.(?_17116969)_(17120506_?)del
|
|
|
NC_000017.10:g.(?_17116969)_(17140502_?)del
|
|
|
NC_000017.10:g.(?_17119684)_(17140502_?)del
|
|
|
NC_000017.10:g.(?_17122323)_(17136215_?)del
|
|
|
NC_000017.10:g.(?_17124841)_(17125985_?)del
|
|
|
NC_000017.10:g.(?_17125805)_(17125985_?)del
|
|
|
NC_000017.10:g.(?_17127226)_(17127467_?)del
|
|
|
NC_000017.10:g.(?_17127226)_(17140502_?)del
|
|
|
NC_000017.10:g.(?_17131193)_(17131475_?)del
|
|
|
NC_000017.10:g.(?_17131193)_(17140502_?)del
|
|
|
NC_000017.10:g.(?_17135706)_(17147081_?)del
|
|
|
NC_000017.10:g.(?_17140226)_(17140502_?)del
|
|
|
NC_000017.11:g.(?_17213645)_(17213866_?)del
|
|
|
NC_000017.11:g.(?_17213645)_(17237188_?)del
|
|
|
NC_000017.11:g.(?_17213856)_(17212212_?)del
|
|
|
NC_000017.11:g.(?_17214975)_(17215326_?)del
|
|
|
NC_000017.11:g.(?_17216370)_(17228161_?)del
|
|
|
NC_000017.11:g.(?_17219209)_(17212212_?)del
|
|
|
NC_000017.11:g.(?_17221527)_(17224153_?)del
|
|
|
NC_000017.11:g.(?_17221531)_(17228143_?)del
|
|
|
NC_000017.11:g.(?_17224143)_(17219019_?)del
|
|
|
NC_000017.11:g.(?_17236912)_(17237188_?)del
|
|
|
NC_000017.11:g.(?_17237168)_(17231794_?)del
|
|
|
NC_000017.11:g.(?_17237168)_(17236912_?)del
|
|
|
NM_144997.5(FLCN):c.[1301-7_1304delGTTACAGAGTT;1323delCinsGA]
|
|
|
NM_144997.7(FLCN):c.(871+1_872-1)_(*1_?)del
|
|
|
NM_144997.7(FLCN):c.1007_1010del (p.Gly336fs)
|
|
|
NM_144997.7(FLCN):c.1013G>A (p.Trp338Ter)
|
|
|
NM_144997.7(FLCN):c.1014del (p.Trp338fs)
|
rs1131690830
|
|
NM_144997.7(FLCN):c.1015C>T (p.Gln339Ter)
|
rs2144894376
|
|
NM_144997.7(FLCN):c.1021del (p.Arg341fs)
|
rs1060502368
|
|
NM_144997.7(FLCN):c.1024_1026delinsGAGCTGGCAGCCCCGGAAT (p.Lys342fs)
|
|
|
NM_144997.7(FLCN):c.1029_1030insGCAGCCCCGGAATCTG (p.Pro344fs)
|
|
|
NM_144997.7(FLCN):c.1029del (p.Pro344fs)
|
|
|
NM_144997.7(FLCN):c.1036_1043del (p.Phe346fs)
|
rs879255670
|
|
NM_144997.7(FLCN):c.1038dup (p.Lys347fs)
|
|
|
NM_144997.7(FLCN):c.1054_1055del (p.Met352fs)
|
rs2047006361
|
|
NM_144997.7(FLCN):c.1060C>T (p.Gln354Ter)
|
rs398124523
|
|
NM_144997.7(FLCN):c.1062+1G>A
|
rs1131690832
|
|
NM_144997.7(FLCN):c.1062+2T>C
|
rs886039370
|
|
NM_144997.7(FLCN):c.1062+2T>G
|
rs886039370
|
|
NM_144997.7(FLCN):c.1063-10_1065del
|
|
|
NM_144997.7(FLCN):c.1063-151_1300+413dup
|
|
|
NM_144997.7(FLCN):c.1063-2A>G
|
rs2144871276
|
|
NM_144997.7(FLCN):c.107_108dup (p.Asp37fs)
|
|
|
NM_144997.7(FLCN):c.1097G>A (p.Trp366Ter)
|
rs2144870598
|
|
NM_144997.7(FLCN):c.1098G>A (p.Trp366Ter)
|
rs879255672
|
|
NM_144997.7(FLCN):c.1098_1102dup (p.Val368fs)
|
rs1131690831
|
|
NM_144997.7(FLCN):c.1117C>T (p.Gln373Ter)
|
rs398124524
|
|
NM_144997.7(FLCN):c.1124_1139del (p.Ile375fs)
|
rs879255673
|
|
NM_144997.7(FLCN):c.1126T>A (p.Trp376Arg)
|
|
|
NM_144997.7(FLCN):c.1127G>A (p.Trp376Ter)
|
rs2144869904
|
|
NM_144997.7(FLCN):c.1128G>A (p.Trp376Ter)
|
rs2046950183
|
|
NM_144997.7(FLCN):c.113del (p.Ser38fs)
|
rs878855212
|
|
NM_144997.7(FLCN):c.1141del (p.Val381fs)
|
rs2144869487
|
|
NM_144997.7(FLCN):c.1153C>T (p.Gln385Ter)
|
rs2144869206
|
|
NM_144997.7(FLCN):c.1153del (p.Gln385fs)
|
rs1555607960
|
|
NM_144997.7(FLCN):c.1156_1175del (p.Ser386fs)
|
rs886037610
|
|
NM_144997.7(FLCN):c.1176+1G>C
|
rs1555607929
|
|
NM_144997.7(FLCN):c.1176G>C (p.Arg392=)
|
rs2046948026
|
|
NM_144997.7(FLCN):c.1177-169_1538del
|
|
|
NM_144997.7(FLCN):c.1177-2A>G
|
rs1057520528
|
|
NM_144997.7(FLCN):c.1177-5_1177-3del
|
rs767671406
|
|
NM_144997.7(FLCN):c.1179del (p.Met394fs)
|
rs398124525
|
|
NM_144997.7(FLCN):c.1188del (p.Val397fs)
|
rs1567809782
|
|
NM_144997.7(FLCN):c.119del (p.Gly40fs)
|
|
|
NM_144997.7(FLCN):c.1203dup (p.Ile402fs)
|
rs398124526
|
|
NM_144997.7(FLCN):c.1213dup (p.Tyr405fs)
|
rs1131690837
|
|
NM_144997.7(FLCN):c.1215C>G (p.Tyr405Ter)
|
rs786202541
|
|
NM_144997.7(FLCN):c.1219del (p.Ser407fs)
|
rs878855213
|
|
NM_144997.7(FLCN):c.121C>T (p.Gln41Ter)
|
rs1254608489
|
|
NM_144997.7(FLCN):c.1222C>T (p.Gln408Ter)
|
rs2144858986
|
|
NM_144997.7(FLCN):c.1227C>A (p.Tyr409Ter)
|
rs561236067
|
|
NM_144997.7(FLCN):c.1227C>G (p.Tyr409Ter)
|
rs561236067
|
|
NM_144997.7(FLCN):c.1228G>T (p.Glu410Ter)
|
|
|
NM_144997.7(FLCN):c.1232_1233dup (p.Ala412fs)
|
|
|
NM_144997.7(FLCN):c.1245C>A (p.Cys415Ter)
|
rs748148728
|
|
NM_144997.7(FLCN):c.1252del (p.Leu418fs)
|
rs864622651
|
|
NM_144997.7(FLCN):c.1252dup (p.Leu418fs)
|
|
|
NM_144997.7(FLCN):c.1261dup (p.Ser421fs)
|
|
|
NM_144997.7(FLCN):c.1265del (p.Pro422fs)
|
rs2144857383
|
|
NM_144997.7(FLCN):c.1273C>T (p.Gln425Ter)
|
|
|
NM_144997.7(FLCN):c.1277_1278delinsA (p.Ile426fs)
|
|
|
NM_144997.7(FLCN):c.1277_1279delinsAA (p.Ile426fs)
|
|
|
NM_144997.7(FLCN):c.127G>T (p.Glu43Ter)
|
rs1555611494
|
|
NM_144997.7(FLCN):c.1285_1286insG (p.His429fs)
|
rs1555607651
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1286_1287delinsCAT (p.His429fs)
|
|
|
NM_144997.7(FLCN):c.1286_1287dup (p.Val430fs)
|
rs1555607640
|
|
NM_144997.7(FLCN):c.1286dup (p.His429fs)
|
rs879255675
|
|
NM_144997.7(FLCN):c.1293_1300+19del
|
|
|
NM_144997.7(FLCN):c.1294_1295del (p.Ser432fs)
|
|
|
NM_144997.7(FLCN):c.1294_1298del (p.Ser432fs)
|
|
|
NM_144997.7(FLCN):c.1300+1G>A
|
rs879255676
|
|
NM_144997.7(FLCN):c.1300+2T>C
|
|
|
NM_144997.7(FLCN):c.1300+2T>G
|
rs1064793766
|
|
NM_144997.7(FLCN):c.1300G>C (p.Glu434Gln)
|
|
|
NM_144997.7(FLCN):c.1300G>T (p.Glu434Ter)
|
rs1266098984
|
|
NM_144997.7(FLCN):c.1301-2A>G
|
rs1555607296
|
|
NM_144997.7(FLCN):c.1301_1302del
|
rs1567808098
|
|
NM_144997.7(FLCN):c.1302_1303dup (p.Phe435fs)
|
rs1131690829
|
|
NM_144997.7(FLCN):c.1305del (p.Phe435fs)
|
rs398124527
|
|
NM_144997.7(FLCN):c.1309del (p.Val437fs)
|
|
|
NM_144997.7(FLCN):c.1312_1313dup (p.Val439fs)
|
|
|
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs)
|
rs879255677
|
|
NM_144997.7(FLCN):c.1318del (p.Glu440fs)
|
rs1555607273
|
|
NM_144997.7(FLCN):c.1321_1322del (p.Val441fs)
|
|
|
NM_144997.7(FLCN):c.1321del (p.Val441fs)
|
rs2144840088
|
|
NM_144997.7(FLCN):c.1323delinsGA (p.His442fs)
|
rs878854341
|
|
NM_144997.7(FLCN):c.1326del (p.His442fs)
|
rs1597580340
|
|
NM_144997.7(FLCN):c.1329_1332dup (p.Ala445fs)
|
rs1085307771
|
|
NM_144997.7(FLCN):c.1333_1352del (p.Ala445fs)
|
rs2144839089
|
|
NM_144997.7(FLCN):c.1337_1343dup (p.Leu449fs)
|
rs2144839279
|
|
NM_144997.7(FLCN):c.1347_1353dup (p.Val452fs)
|
rs2046880504
|
|
NM_144997.7(FLCN):c.1352del (p.Pro451fs)
|
rs1131690828
|
|
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs)
|
rs1131690841
|
|
NM_144997.7(FLCN):c.1358_1374del (p.Gly453fs)
|
rs1555607179
|
|
NM_144997.7(FLCN):c.1359del (p.Cys454fs)
|
rs1555607212
|
|
NM_144997.7(FLCN):c.1360del (p.Cys454fs)
|
|
|
NM_144997.7(FLCN):c.1367_1398del (p.Asp456fs)
|
|
|
NM_144997.7(FLCN):c.1379_1380del (p.Leu460fs)
|
rs1064793128
|
|
NM_144997.7(FLCN):c.1389C>A (p.Tyr463Ter)
|
rs137852929
|
|
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter)
|
rs137852929
|
|
NM_144997.7(FLCN):c.1390G>T (p.Glu464Ter)
|
|
|
NM_144997.7(FLCN):c.1392dup (p.Phe465fs)
|
|
|
NM_144997.7(FLCN):c.1395del (p.Phe465fs)
|
|
|
NM_144997.7(FLCN):c.1397del (p.Val466fs)
|
rs2046877798
|
|
NM_144997.7(FLCN):c.1426dup (p.Asp476fs)
|
rs1131690835
|
|
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)
|
rs879255678
|
|
NM_144997.7(FLCN):c.1432+1G>A
|
rs755959303
|
|
NM_144997.7(FLCN):c.1432+2T>C
|
rs1567807517
|
|
NM_144997.7(FLCN):c.1433-1G>T
|
|
|
NM_144997.7(FLCN):c.1436dup (p.Thr481fs)
|
|
|
NM_144997.7(FLCN):c.1440del (p.Thr481fs)
|
rs1597579055
|
|
NM_144997.7(FLCN):c.1451_1458dup (p.Glu487fs)
|
rs757197845
|
|
NM_144997.7(FLCN):c.1451del (p.Asn484fs)
|
rs1567807238
|
|
NM_144997.7(FLCN):c.1459G>T (p.Glu487Ter)
|
rs786202475
|
|
NM_144997.7(FLCN):c.1474_1475delinsG (p.Asn492fs)
|
rs1597578868
|
|
NM_144997.7(FLCN):c.1477C>T (p.Gln493Ter)
|
rs2144832772
|
|
NM_144997.7(FLCN):c.1487_1490dup (p.Asp498fs)
|
rs879255679
|
|
NM_144997.7(FLCN):c.1487_1495delinsGGACCAGTGGCAC (p.Ser496fs)
|
|
|
NM_144997.7(FLCN):c.1490_1491del (p.Val497fs)
|
|
|
NM_144997.7(FLCN):c.1504C>T (p.Gln502Ter)
|
rs886042033
|
|
NM_144997.7(FLCN):c.1511_1512del (p.Leu504fs)
|
|
|
NM_144997.7(FLCN):c.1525GAG[1] (p.Glu510del)
|
rs879255681
|
|
NM_144997.7(FLCN):c.1528del (p.Glu510fs)
|
rs879255680
|
|
NM_144997.7(FLCN):c.1532G>A (p.Trp511Ter)
|
rs879255682
|
|
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)
|
rs398124530
|
|
NM_144997.7(FLCN):c.1533_1536del (p.Glu510_Trp511insTer)
|
rs886037608
|
|
NM_144997.7(FLCN):c.1538+1G>A
|
rs2046866025
|
|
NM_144997.7(FLCN):c.1538+1G>T
|
|
|
NM_144997.7(FLCN):c.1539-2A>G
|
rs878855214
|
|
NM_144997.7(FLCN):c.1540A>T (p.Lys514Ter)
|
rs886041478
|
|
NM_144997.7(FLCN):c.1553T>C (p.Leu518Pro)
|
|
|
NM_144997.7(FLCN):c.1556_1562del (p.Phe519fs)
|
|
|
NM_144997.7(FLCN):c.156dup (p.Gln53fs)
|
|
|
NM_144997.7(FLCN):c.1578_1599del (p.Ser526fs)
|
rs1057518043
|
|
NM_144997.7(FLCN):c.1584del (p.Glu530fs)
|
rs1131690827
|
|
NM_144997.7(FLCN):c.1589dup (p.Asp531fs)
|
|
|
NM_144997.7(FLCN):c.158del (p.Gln53fs)
|
rs1131690825
|
|
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter)
|
rs398124532
|
|
NM_144997.7(FLCN):c.1597_1598del (p.Gln533fs)
|
rs876660810
|
|
NM_144997.7(FLCN):c.1599_1600del (p.Lys534fs)
|
|
|
NM_144997.7(FLCN):c.1599_1600dup (p.Lys534fs)
|
rs1439151268
|
|
NM_144997.7(FLCN):c.1601del (p.Lys534fs)
|
rs886039371
|
|
NM_144997.7(FLCN):c.1607_1622del (p.Leu536fs)
|
rs1597574088
|
|
NM_144997.7(FLCN):c.1615dup (p.Leu539fs)
|
|
|
NM_144997.7(FLCN):c.1616dup (p.Ala541fs)
|
rs2144810362
|
|
NM_144997.7(FLCN):c.1619dup (p.Ala541fs)
|
rs2144810189
|
|
NM_144997.7(FLCN):c.1635del (p.Asp545fs)
|
|
|
NM_144997.7(FLCN):c.1637del (p.Asn546fs)
|
|
|
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)
|
rs1131690833
|
|
NM_144997.7(FLCN):c.1658G>A (p.Trp553Ter)
|
rs879255684
|
|
NM_144997.7(FLCN):c.1665_1666insTCAGAGGACAATGTCAAGCTGCTGAAGGTCT (p.Gly556fs)
|
|
|
NM_144997.7(FLCN):c.167del (p.Ser56fs)
|
rs1597617757
|
|
NM_144997.7(FLCN):c.168_193del (p.Ser56fs)
|
|
|
NM_144997.7(FLCN):c.171dup (p.Met58fs)
|
rs886041203
|
|
NM_144997.7(FLCN):c.179dup (p.His61fs)
|
|
|
NM_144997.7(FLCN):c.17_21del (p.Ala6fs)
|
rs1597618627
|
|
NM_144997.7(FLCN):c.185del (p.Ser62fs)
|
|
|
NM_144997.7(FLCN):c.189del (p.Ala64fs)
|
rs876660611
|
|
NM_144997.7(FLCN):c.194_195del (p.Glu65fs)
|
|
|
NM_144997.7(FLCN):c.199del (p.Ala67fs)
|
rs1555611438
|
|
NM_144997.7(FLCN):c.199dup (p.Ala67fs)
|
|
|
NM_144997.7(FLCN):c.1A>G (p.Met1Val)
|
rs2047316806
|
|
NM_144997.7(FLCN):c.202del (p.Ser68fs)
|
rs1060502370
|
|
NM_144997.7(FLCN):c.214del (p.Ser72fs)
|
rs1131690824
|
|
NM_144997.7(FLCN):c.228del (p.Lys78fs)
|
rs2047302808
|
|
NM_144997.7(FLCN):c.233del (p.Lys78fs)
|
rs1555611377
|
|
NM_144997.7(FLCN):c.235_238del (p.Ser79fs)
|
rs750146811
|
|
NM_144997.7(FLCN):c.236C>A (p.Ser79Ter)
|
|
|
NM_144997.7(FLCN):c.236C>G (p.Ser79Trp)
|
rs137852930
|
|
NM_144997.7(FLCN):c.237_240dup (p.Met81fs)
|
rs1597617148
|
|
NM_144997.7(FLCN):c.239del (p.Asp80fs)
|
rs1060502371
|
|
NM_144997.7(FLCN):c.241_242del (p.Met81fs)
|
rs1057518147
|
|
NM_144997.7(FLCN):c.250-1G>A
|
rs786202081
|
|
NM_144997.7(FLCN):c.250-2A>G
|
rs398124533
|
|
NM_144997.7(FLCN):c.252del (p.Cys85fs)
|
|
|
NM_144997.7(FLCN):c.259_280del (p.Ser87fs)
|
|
|
NM_144997.7(FLCN):c.260C>A (p.Ser87Ter)
|
|
|
NM_144997.7(FLCN):c.273del (p.His92fs)
|
rs2047248214
|
|
NM_144997.7(FLCN):c.296del (p.Asp99fs)
|
rs398124534
|
|
NM_144997.7(FLCN):c.299_302del (p.Lys100fs)
|
|
|
NM_144997.7(FLCN):c.2T>C (p.Met1Thr)
|
|
|
NM_144997.7(FLCN):c.301G>T (p.Glu101Ter)
|
rs1597613070
|
|
NM_144997.7(FLCN):c.30del (p.Cys11fs)
|
rs2145050572
|
|
NM_144997.7(FLCN):c.312_316dup (p.Tyr106fs)
|
|
|
NM_144997.7(FLCN):c.312del (p.Lys105fs)
|
rs1597612985
|
|
NM_144997.7(FLCN):c.318C>G (p.Tyr106Ter)
|
|
|
NM_144997.7(FLCN):c.319_320del (p.Val107fs)
|
rs2145012275
|
|
NM_144997.7(FLCN):c.319_320delinsCAC (p.Val107fs)
|
rs398124535
|
|
NM_144997.7(FLCN):c.31T>G (p.Cys11Gly)
|
rs879255659
|
|
NM_144997.7(FLCN):c.321dup (p.Ser108fs)
|
rs2145012125
|
|
NM_144997.7(FLCN):c.328C>T (p.Gln110Ter)
|
|
|
NM_144997.7(FLCN):c.332_349del (p.His111_Gln116del)
|
|
|
NM_144997.7(FLCN):c.33C>A (p.Cys11Ter)
|
rs754616167
|
|
NM_144997.7(FLCN):c.33C>G (p.Cys11Trp)
|
rs754616167
|
|
NM_144997.7(FLCN):c.346C>T (p.Gln116Ter)
|
rs398124536
|
|
NM_144997.7(FLCN):c.347dup (p.Leu117fs)
|
rs776896550
|
|
NM_144997.7(FLCN):c.35del (p.Glu12fs)
|
|
|
NM_144997.7(FLCN):c.365_372del (p.Arg122fs)
|
rs1567822638
|
|
NM_144997.7(FLCN):c.381dup (p.Ser128fs)
|
rs2145010299
|
|
NM_144997.7(FLCN):c.396+1G>A
|
rs2145009900
|
|
NM_144997.7(FLCN):c.397-13_397-4del
|
|
|
NM_144997.7(FLCN):c.397-1G>C
|
|
|
NM_144997.7(FLCN):c.397-1G>T
|
rs2144983515
|
|
NM_144997.7(FLCN):c.397-1_397delinsC
|
|
|
NM_144997.7(FLCN):c.397-2A>C
|
|
|
NM_144997.7(FLCN):c.397-7_399del
|
|
|
NM_144997.7(FLCN):c.3G>A (p.Met1Ile)
|
|
|
NM_144997.7(FLCN):c.3G>C (p.Met1Ile)
|
rs879255658
|
|
NM_144997.7(FLCN):c.3del (p.Met1fs)
|
rs1131690838
|
|
NM_144997.7(FLCN):c.404del (p.Pro135fs)
|
rs886037609
|
|
NM_144997.7(FLCN):c.412G>T (p.Glu138Ter)
|
rs1597607423
|
|
NM_144997.7(FLCN):c.420dup (p.Ile141fs)
|
rs2047181267
|
|
NM_144997.7(FLCN):c.430G>T (p.Gly144Ter)
|
|
|
NM_144997.7(FLCN):c.433del (p.Asp145fs)
|
rs1135401752
|
|
NM_144997.7(FLCN):c.436G>T (p.Glu146Ter)
|
|
|
NM_144997.7(FLCN):c.439C>T (p.Gln147Ter)
|
|
|
NM_144997.7(FLCN):c.44dup (p.Arg17fs)
|
rs1131690839
|
|
NM_144997.7(FLCN):c.453del (p.Phe152fs)
|
rs879255660
|
|
NM_144997.7(FLCN):c.464_475del (p.Thr155_Ile158del)
|
rs2047178513
|
|
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)
|
rs786203218
|
|
NM_144997.7(FLCN):c.476_479dup (p.Asp160fs)
|
rs2144979340
|
|
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)
|
rs587782069
|
|
NM_144997.7(FLCN):c.49del (p.Arg17fs)
|
rs758385503
|
|
NM_144997.7(FLCN):c.49dup (p.Arg17fs)
|
rs758385503
|
|
NM_144997.7(FLCN):c.503_513del (p.Arg168fs)
|
|
|
NM_144997.7(FLCN):c.503_518delinsATCAG (p.Arg168fs)
|
rs1064792959
|
|
NM_144997.7(FLCN):c.507G>A (p.Trp169Ter)
|
rs1555610290
|
|
NM_144997.7(FLCN):c.510C>A (p.Tyr170Ter)
|
rs1567819834
|
|
NM_144997.7(FLCN):c.518del (p.Ile173fs)
|
|
|
NM_144997.7(FLCN):c.521_527del (p.Thr174fs)
|
rs1085307478
|
|
NM_144997.7(FLCN):c.523_535del (p.Ile175fs)
|
rs2047175695
|
|
NM_144997.7(FLCN):c.557G>A (p.Trp186Ter)
|
rs876658409
|
|
NM_144997.7(FLCN):c.558G>A (p.Trp186Ter)
|
rs1185698194
|
|
NM_144997.7(FLCN):c.563del (p.Phe188fs)
|
rs1597606551
|
|
NM_144997.7(FLCN):c.566_577delinsCC (p.Leu189fs)
|
|
|
NM_144997.7(FLCN):c.576_586del (p.Lys192fs)
|
rs2047172274
|
|
NM_144997.7(FLCN):c.578del (p.Val193fs)
|
|
|
NM_144997.7(FLCN):c.57_58del (p.Phe20fs)
|
rs2145049426
|
|
NM_144997.7(FLCN):c.583G>T (p.Gly195Ter)
|
rs1567819544
|
|
NM_144997.7(FLCN):c.584del (p.Gly195fs)
|
rs878855217
|
|
NM_144997.7(FLCN):c.59del (p.Phe20fs)
|
rs876658390
|
|
NM_144997.7(FLCN):c.601C>T (p.Gln201Ter)
|
|
|
NM_144997.7(FLCN):c.603_607del (p.Lys203fs)
|
rs1131690836
|
|
NM_144997.7(FLCN):c.605dup (p.Lys203fs)
|
|
|
NM_144997.7(FLCN):c.610G>T (p.Ala204Ser)
|
rs1456509027
|
|
NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter)
|
rs398124538
|
|
NM_144997.7(FLCN):c.617dup (p.Val207fs)
|
|
|
NM_144997.7(FLCN):c.618+1G>A
|
|
|
NM_144997.7(FLCN):c.619-1G>A
|
rs1131690840
|
|
NM_144997.7(FLCN):c.624dup (p.Glu209Ter)
|
rs2144952338
|
|
NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs)
|
rs879255661
|
|
NM_144997.7(FLCN):c.634C>T (p.Gln212Ter)
|
rs558699420
|
|
NM_144997.7(FLCN):c.649C>T (p.Gln217Ter)
|
rs1555609899
|
|
NM_144997.7(FLCN):c.658C>T (p.Gln220Ter)
|
|
|
NM_144997.7(FLCN):c.65C>A (p.Thr22Lys)
|
|
|
NM_144997.7(FLCN):c.671_672del (p.Thr224fs)
|
|
|
NM_144997.7(FLCN):c.67_79del (p.Glu23fs)
|
rs2145048688
|
|
NM_144997.7(FLCN):c.694C>T (p.Gln232Ter)
|
|
|
NM_144997.7(FLCN):c.708del (p.Asn236fs)
|
rs886039369
|
|
NM_144997.7(FLCN):c.735_738del (p.Ser246fs)
|
rs879255662
|
|
NM_144997.7(FLCN):c.739_761delinsCAGCGAG (p.Asp247fs)
|
rs2047123162
|
|
NM_144997.7(FLCN):c.752G>A (p.Trp251Ter)
|
rs879255663
|
|
NM_144997.7(FLCN):c.754dup (p.Ala252fs)
|
|
|
NM_144997.7(FLCN):c.755del (p.Ala252fs)
|
rs2144948439
|
|
NM_144997.7(FLCN):c.763C>T (p.His255Tyr)
|
rs879255664
|
|
NM_144997.7(FLCN):c.767CCT[1] (p.Ser257del)
|
|
|
NM_144997.7(FLCN):c.770_773del (p.Ser257fs)
|
|
|
NM_144997.7(FLCN):c.774del (p.Phe258fs)
|
rs2144947980
|
|
NM_144997.7(FLCN):c.779+1G>C
|
rs758175953
|
|
NM_144997.7(FLCN):c.779G>A (p.Trp260Ter)
|
rs368778627
|
|
NM_144997.7(FLCN):c.780-1G>C
|
rs878855218
|
|
NM_144997.7(FLCN):c.780-1G>T
|
rs878855218
|
|
NM_144997.7(FLCN):c.780-2A>G
|
rs1555609514
|
|
NM_144997.7(FLCN):c.780G>A (p.Trp260Ter)
|
rs1131690826
|
|
NM_144997.7(FLCN):c.792_798dup (p.Ser267fs)
|
|
|
NM_144997.7(FLCN):c.792del (p.Cys265fs)
|
rs1567816339
|
|
NM_144997.7(FLCN):c.802del (p.Arg268fs)
|
|
|
NM_144997.7(FLCN):c.804del (p.Arg268_Leu269insTer)
|
rs1567816285
|
|
NM_144997.7(FLCN):c.808dup (p.Thr270fs)
|
rs2047092163
|
|
NM_144997.7(FLCN):c.810del (p.Glu271fs)
|
rs2144933364
|
|
NM_144997.7(FLCN):c.826_842del (p.Gly276fs)
|
rs2144931929
|
|
NM_144997.7(FLCN):c.827_828insAG (p.Ala277fs)
|
rs2144932834
|
|
NM_144997.7(FLCN):c.828_829dup (p.Ala277fs)
|
rs398124539
|
|
NM_144997.7(FLCN):c.828delinsAGA (p.Ala277fs)
|
rs878855220
|
|
NM_144997.7(FLCN):c.838G>T (p.Glu280Ter)
|
rs1060502367
|
|
NM_144997.7(FLCN):c.838_839delinsTTGGTC (p.Glu280fs)
|
|
|
NM_144997.7(FLCN):c.83dup (p.Leu29fs)
|
rs398124540
|
|
NM_144997.7(FLCN):c.846del (p.Leu283fs)
|
|
|
NM_144997.7(FLCN):c.851del (p.Val284fs)
|
rs879255666
|
|
NM_144997.7(FLCN):c.853C>T (p.Gln285Ter)
|
rs879255667
|
|
NM_144997.7(FLCN):c.859G>T (p.Glu287Ter)
|
|
|
NM_144997.7(FLCN):c.862A>T (p.Lys288Ter)
|
|
|
NM_144997.7(FLCN):c.875T>G (p.Leu292Ter)
|
rs879255668
|
|
NM_144997.7(FLCN):c.887C>A (p.Ser296Ter)
|
|
|
NM_144997.7(FLCN):c.887C>G (p.Ser296Ter)
|
rs1490424623
|
|
NM_144997.7(FLCN):c.889_890del (p.Glu297fs)
|
rs1597592246
|
|
NM_144997.7(FLCN):c.890_893del (p.Glu297fs)
|
rs398124541
|
|
NM_144997.7(FLCN):c.896G>A (p.Trp299Ter)
|
|
|
NM_144997.7(FLCN):c.89del (p.Pro30fs)
|
|
|
NM_144997.7(FLCN):c.906dup (p.Glu303Ter)
|
|
|
NM_144997.7(FLCN):c.907G>T (p.Glu303Ter)
|
|
|
NM_144997.7(FLCN):c.913del (p.Glu305fs)
|
rs2047014823
|
|
NM_144997.7(FLCN):c.919G>T (p.Glu307Ter)
|
rs932256543
|
|
NM_144997.7(FLCN):c.919del (p.Glu307fs)
|
rs2144897537
|
|
NM_144997.7(FLCN):c.91C>T (p.Gln31Ter)
|
rs1597618162
|
|
NM_144997.7(FLCN):c.922G>T (p.Glu308Ter)
|
|
|
NM_144997.7(FLCN):c.922del (p.Glu308fs)
|
|
|
NM_144997.7(FLCN):c.927_954dup (p.Gly319fs)
|
rs398124542
|
|
NM_144997.7(FLCN):c.927dup (p.Ala310fs)
|
rs879255669
|
|
NM_144997.7(FLCN):c.932_933del (p.Pro311fs)
|
rs1555608614
|
|
NM_144997.7(FLCN):c.932del (p.Pro311fs)
|
rs1555608617
|
|
NM_144997.7(FLCN):c.933del (p.Val312fs)
|
rs886041041
|
|
NM_144997.7(FLCN):c.938del (p.Leu313fs)
|
|
|
NM_144997.7(FLCN):c.943G>T (p.Glu315Ter)
|
rs587781952
|
|
NM_144997.7(FLCN):c.946_947del (p.Ser316fs)
|
rs1597591875
|
|
NM_144997.7(FLCN):c.970C>T (p.Gln324Ter)
|
rs2144896021
|
|
NM_144997.7(FLCN):c.979dup (p.Ala327fs)
|
rs1555608552
|
|
NM_144997.7(FLCN):c.987del (p.Ser330fs)
|
rs878855221
|
|
NM_144997.7(FLCN):c.989_990dup (p.Ser331fs)
|
|
|
NM_144997.7(FLCN):c.995dup (p.Ser333fs)
|
rs2144895051
|
|
NM_144997.7(FLCN):c.997_998del (p.Ser333fs)
|
rs1555608515
|
|
NM_144997.7(FLCN):c.998C>G (p.Ser333Ter)
|
|
|
Single allele
|
|
|