|
NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg)
|
rs13551
|
0.27120
|
|
NM_000147.4(FUCA1):c.-12T>C
|
rs2070954
|
0.11405
|
|
NM_000147.4(FUCA1):c.-86T>G
|
rs2070953
|
0.10497
|
|
NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp)
|
rs2070955
|
0.10031
|
|
NM_000147.5(FUCA1):c.327G>A (p.Gln109=)
|
rs61996281
|
0.00982
|
|
NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile)
|
rs114490852
|
0.00944
|
|
NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe)
|
rs143691289
|
0.00371
|
|
NM_000147.5(FUCA1):c.778G>A (p.Val260Ile)
|
rs665
|
0.00227
|
|
NM_000147.5(FUCA1):c.389+14C>T
|
rs553138426
|
0.00148
|
|
NM_000147.5(FUCA1):c.648C>T (p.Tyr216=)
|
rs80358198
|
0.00136
|
|
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
|
rs150062050
|
0.00126
|
|
NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln)
|
rs145603001
|
0.00116
|
|
NM_000147.5(FUCA1):c.969+5G>C
|
rs115939152
|
0.00101
|
|
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=)
|
rs370453371
|
0.00047
|
|
NM_000147.5(FUCA1):c.969+18T>A
|
rs140246387
|
0.00041
|
|
NM_000147.5(FUCA1):c.1274G>A (p.Gly425Glu)
|
rs150422575
|
0.00037
|
|
NM_000147.5(FUCA1):c.502T>C (p.Leu168=)
|
rs147389792
|
0.00034
|
|
NM_000147.4(FUCA1):c.-44G>A
|
rs139832548
|
0.00029
|
|
NM_000147.5(FUCA1):c.260C>T (p.Pro87Leu)
|
rs138378067
|
0.00022
|
|
NM_000147.5(FUCA1):c.339C>T (p.Arg113=)
|
rs558060888
|
0.00021
|
|
NM_000147.5(FUCA1):c.525-8T>G
|
rs41268125
|
0.00021
|
|
NM_000147.5(FUCA1):c.*270T>C
|
rs143441916
|
0.00020
|
|
NM_000147.5(FUCA1):c.639A>G (p.Pro213=)
|
rs200409671
|
0.00015
|
|
NM_000147.5(FUCA1):c.405G>A (p.Thr135=)
|
rs145153173
|
0.00014
|
|
NM_000147.5(FUCA1):c.106C>T (p.Arg36Cys)
|
rs201209052
|
0.00012
|
|
NM_000147.5(FUCA1):c.1026T>G (p.Thr342=)
|
rs771696380
|
0.00011
|
|
NM_000147.5(FUCA1):c.1359C>T (p.Pro453=)
|
rs147866670
|
0.00011
|
|
NM_000147.5(FUCA1):c.34G>T (p.Gly12Cys)
|
rs530854024
|
0.00010
|
|
NM_000147.5(FUCA1):c.825A>T (p.Gly275=)
|
rs199675692
|
0.00010
|
|
NM_000147.5(FUCA1):c.11C>T (p.Pro4Leu)
|
rs747889861
|
0.00009
|
|
NM_000147.5(FUCA1):c.1077G>A (p.Gly359=)
|
rs777813005
|
0.00008
|
|
NM_000147.5(FUCA1):c.484C>T (p.Arg162Trp)
|
rs375270869
|
0.00008
|
|
NM_000147.5(FUCA1):c.970-20A>G
|
rs371684711
|
0.00008
|
|
NM_000147.5(FUCA1):c.1A>G (p.Met1Val)
|
rs558338123
|
0.00007
|
|
NM_000147.5(FUCA1):c.1179G>A (p.Ser393=)
|
rs370306169
|
0.00006
|
|
NM_000147.5(FUCA1):c.861C>T (p.Ser287=)
|
rs200962094
|
0.00006
|
|
NM_000147.5(FUCA1):c.1178C>T (p.Ser393Leu)
|
rs149168482
|
0.00005
|
|
NM_000147.5(FUCA1):c.37C>T (p.Pro13Ser)
|
rs569701574
|
0.00005
|
|
NM_000147.5(FUCA1):c.936G>A (p.Leu312=)
|
rs140932886
|
0.00005
|
|
NM_000147.5(FUCA1):c.1160+9T>C
|
rs778966131
|
0.00004
|
|
NM_000147.5(FUCA1):c.1335C>G (p.Pro445=)
|
rs372223382
|
0.00004
|
|
NM_000147.5(FUCA1):c.1360G>A (p.Ala454Thr)
|
rs377360830
|
0.00004
|
|
NM_000147.5(FUCA1):c.397G>C (p.Val133Leu)
|
rs1204848910
|
0.00004
|
|
NM_000147.5(FUCA1):c.39C>T (p.Pro13=)
|
rs1429674319
|
0.00004
|
|
NM_000147.5(FUCA1):c.517C>T (p.Arg173Trp)
|
rs768069468
|
0.00004
|
|
NM_000147.5(FUCA1):c.649G>A (p.Asp217Asn)
|
rs781345107
|
0.00004
|
|
NM_000147.5(FUCA1):c.*342C>A
|
rs1023386054
|
0.00003
|
|
NM_000147.5(FUCA1):c.*97T>C
|
rs1639121464
|
0.00003
|
|
NM_000147.5(FUCA1):c.1190C>T (p.Ala397Val)
|
rs766121368
|
0.00003
|
|
NM_000147.5(FUCA1):c.492G>C (p.Leu164Phe)
|
rs754110650
|
0.00003
|
|
NM_000147.5(FUCA1):c.67G>C (p.Gly23Arg)
|
rs551560114
|
0.00003
|
|
NM_000147.5(FUCA1):c.923G>A (p.Arg308His)
|
rs372537257
|
0.00003
|
|
NM_000147.5(FUCA1):c.1260+7A>C
|
rs771229488
|
0.00002
|
|
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter)
|
rs118204450
|
0.00002
|
|
NM_000147.5(FUCA1):c.1347C>A (p.Pro449=)
|
rs750761317
|
0.00002
|
|
NM_000147.5(FUCA1):c.438G>A (p.Pro146=)
|
rs766878135
|
0.00002
|
|
NM_000147.5(FUCA1):c.532C>T (p.Arg178Cys)
|
rs149540896
|
0.00002
|
|
NM_000147.5(FUCA1):c.662+8A>G
|
rs371032301
|
0.00002
|
|
NM_000147.5(FUCA1):c.6G>A (p.Arg2=)
|
rs1431712214
|
0.00002
|
|
NM_000147.5(FUCA1):c.*527A>G
|
rs886046322
|
0.00001
|
|
NM_000147.5(FUCA1):c.1024A>G (p.Thr342Ala)
|
rs769788583
|
0.00001
|
|
NM_000147.5(FUCA1):c.1075G>A (p.Gly359Arg)
|
rs749269943
|
0.00001
|
|
NM_000147.5(FUCA1):c.1126C>T (p.Arg376Trp)
|
rs548735209
|
0.00001
|
|
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg)
|
rs80358199
|
0.00001
|
|
NM_000147.5(FUCA1):c.1251A>C (p.Ser417=)
|
rs897246170
|
0.00001
|
|
NM_000147.5(FUCA1):c.12G>C (p.Pro4=)
|
rs775815377
|
0.00001
|
|
NM_000147.5(FUCA1):c.1326C>T (p.Ile442=)
|
rs924511473
|
0.00001
|
|
NM_000147.5(FUCA1):c.1378A>G (p.Ile460Val)
|
rs774128532
|
0.00001
|
|
NM_000147.5(FUCA1):c.137C>G (p.Ser46Cys)
|
rs367641377
|
0.00001
|
|
NM_000147.5(FUCA1):c.144G>A (p.Pro48=)
|
rs1383407330
|
0.00001
|
|
NM_000147.5(FUCA1):c.193G>A (p.Gly65Ser)
|
rs763135982
|
0.00001
|
|
NM_000147.5(FUCA1):c.244C>T (p.Gln82Ter)
|
rs80358196
|
0.00001
|
|
NM_000147.5(FUCA1):c.294G>C (p.Pro98=)
|
rs773469453
|
0.00001
|
|
NM_000147.5(FUCA1):c.30G>C (p.Pro10=)
|
rs886046326
|
0.00001
|
|
NM_000147.5(FUCA1):c.350C>T (p.Pro117Leu)
|
rs777581303
|
0.00001
|
|
NM_000147.5(FUCA1):c.388A>G (p.Lys130Glu)
|
rs980153372
|
0.00001
|
|
NM_000147.5(FUCA1):c.390-20T>C
|
rs1460987220
|
0.00001
|
|
NM_000147.5(FUCA1):c.445G>T (p.Val149Leu)
|
rs747625633
|
0.00001
|
|
NM_000147.5(FUCA1):c.465C>T (p.Ser155=)
|
rs563341708
|
0.00001
|
|
NM_000147.5(FUCA1):c.472G>A (p.Val158Met)
|
rs550936524
|
0.00001
|
|
NM_000147.5(FUCA1):c.485G>A (p.Arg162Gln)
|
rs372045495
|
0.00001
|
|
NM_000147.5(FUCA1):c.518G>A (p.Arg173Gln)
|
rs148194937
|
0.00001
|
|
NM_000147.5(FUCA1):c.522G>T (p.Lys174Asn)
|
rs1352828947
|
0.00001
|
|
NM_000147.5(FUCA1):c.525-3A>G
|
rs766757100
|
0.00001
|
|
NM_000147.5(FUCA1):c.533G>A (p.Arg178His)
|
rs145537354
|
0.00001
|
|
NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter)
|
rs997047045
|
0.00001
|
|
NM_000147.5(FUCA1):c.658A>C (p.Asn220His)
|
rs755082816
|
0.00001
|
|
NM_000147.5(FUCA1):c.662+9C>T
|
rs1009553855
|
0.00001
|
|
NM_000147.5(FUCA1):c.663-11A>G
|
rs759359539
|
0.00001
|
|
NM_000147.5(FUCA1):c.677T>G (p.Leu226Arg)
|
rs770733586
|
0.00001
|
|
NM_000147.5(FUCA1):c.759C>T (p.Ser253=)
|
rs757698879
|
0.00001
|
|
NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter)
|
rs587779399
|
0.00001
|
|
NM_000147.5(FUCA1):c.882G>C (p.Glu294Asp)
|
rs1483687600
|
0.00001
|
|
NM_000147.5(FUCA1):c.903G>A (p.Lys301=)
|
rs1639349703
|
0.00001
|
|
NM_000147.5(FUCA1):c.919C>T (p.Arg307Cys)
|
rs773719849
|
0.00001
|
|
NM_000147.5(FUCA1):c.927C>T (p.Asp309=)
|
rs1639347894
|
0.00001
|
|
NM_000147.5(FUCA1):c.933A>C (p.Ala311=)
|
rs1035389960
|
0.00001
|
|
NC_000001.10:g.(?_24172205)_(24172683_?)dup
|
|
|
|
NC_000001.10:g.(?_24172205)_(24194776_?)del
|
|
|
|
NC_000001.10:g.(?_24172205)_(24194776_?)dup
|
|
|
|
NC_000001.10:g.(?_24186268)_(24186413_?)dup
|
|
|
|
NC_000001.10:g.(?_24191961)_(24194776_?)del
|
|
|
|
NC_000001.11:g.(?_23859778)_(23859923_?)del
|
|
|
|
NG_013346.1:g.(24722_27196)_(28294_?)del
|
|
|
|
NM_000147.5(FUCA1):c.*286C>A
|
rs886046324
|
|
|
NM_000147.5(FUCA1):c.*438_*442del
|
rs886046323
|
|
|
NM_000147.5(FUCA1):c.*544T>A
|
rs886046321
|
|
|
NM_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr)
|
|
|
|
NM_000147.5(FUCA1):c.1014C>T (p.Asn338=)
|
rs2148438798
|
|
|
NM_000147.5(FUCA1):c.1016T>C (p.Ile339Thr)
|
|
|
|
NM_000147.5(FUCA1):c.1017T>C (p.Ile339=)
|
|
|
|
NM_000147.5(FUCA1):c.1032T>C (p.Asp344=)
|
|
|
|
NM_000147.5(FUCA1):c.1035A>T (p.Gly345=)
|
|
|
|
NM_000147.5(FUCA1):c.1038G>C (p.Leu346=)
|
|
|
|
NM_000147.5(FUCA1):c.1041T>C (p.Ile347=)
|
|
|
|
NM_000147.5(FUCA1):c.1048A>G (p.Ile350Val)
|
|
|
|
NM_000147.5(FUCA1):c.1054C>T (p.Gln352Ter)
|
|
|
|
NM_000147.5(FUCA1):c.1057G>T (p.Glu353Ter)
|
|
|
|
NM_000147.5(FUCA1):c.1065T>C (p.Leu355=)
|
|
|
|
NM_000147.5(FUCA1):c.1076G>A (p.Gly359Glu)
|
rs1393793214
|
|
|
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter)
|
rs864309551
|
|
|
NM_000147.5(FUCA1):c.1082G>T (p.Trp361Leu)
|
|
|
|
NM_000147.5(FUCA1):c.1089C>T (p.Ser363=)
|
|
|
|
NM_000147.5(FUCA1):c.1092C>T (p.Ile364=)
|
|
|
|
NM_000147.5(FUCA1):c.1102G>A (p.Ala368Thr)
|
|
|
|
NM_000147.5(FUCA1):c.1116C>T (p.Ser372=)
|
|
|
|
NM_000147.5(FUCA1):c.111C>T (p.Tyr37=)
|
|
|
|
NM_000147.5(FUCA1):c.1123T>C (p.Trp375Arg)
|
|
|
|
NM_000147.5(FUCA1):c.1123del (p.Trp375fs)
|
|
|
|
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter)
|
rs794727774
|
|
|
NM_000147.5(FUCA1):c.1131_1132delinsTT (p.Gln378Ter)
|
|
|
|
NM_000147.5(FUCA1):c.1134A>G (p.Gln378=)
|
|
|
|
NM_000147.5(FUCA1):c.1136G>C (p.Trp379Ser)
|
|
|
|
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln)
|
rs80358195
|
|
|
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter)
|
rs80358195
|
|
|
NM_000147.5(FUCA1):c.1149A>T (p.Thr383=)
|
|
|
|
NM_000147.5(FUCA1):c.1152A>G (p.Thr384=)
|
|
|
|
NM_000147.5(FUCA1):c.1158A>G (p.Val386=)
|
|
|
|
NM_000147.5(FUCA1):c.1160+10_1160+14del
|
|
|
|
NM_000147.5(FUCA1):c.1160+16T>C
|
rs2148438645
|
|
|
NM_000147.5(FUCA1):c.1160+17G>C
|
|
|
|
NM_000147.5(FUCA1):c.1160+20G>A
|
|
|
|
NM_000147.5(FUCA1):c.1160G>A (p.Trp387Ter)
|
rs80358197
|
|
|
NM_000147.5(FUCA1):c.1161-17T>C
|
|
|
|
NM_000147.5(FUCA1):c.1161-19G>A
|
|
|
|
NM_000147.5(FUCA1):c.1161-21GT[3]
|
|
|
|
NM_000147.5(FUCA1):c.1161-5C>T
|
|
|
|
NM_000147.5(FUCA1):c.1174G>A (p.Gly392Arg)
|
rs1639135764
|
|
|
NM_000147.5(FUCA1):c.1180G>A (p.Ala394Thr)
|
|
|
|
NM_000147.5(FUCA1):c.1183G>A (p.Val395Ile)
|
|
|
|
NM_000147.5(FUCA1):c.1192A>G (p.Ile398Val)
|
|
|
|
NM_000147.5(FUCA1):c.1206G>A (p.Trp402Ter)
|
|
|
|
NM_000147.5(FUCA1):c.1209A>G (p.Pro403=)
|
|
|
|
NM_000147.5(FUCA1):c.1214A>T (p.Asn405Ile)
|
|
|
|
NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter)
|
rs764863416
|
|
|
NM_000147.5(FUCA1):c.1226A>T (p.Asn409Ile)
|
|
|
|
NM_000147.5(FUCA1):c.1236C>T (p.Ser412=)
|
|
|
|
NM_000147.5(FUCA1):c.1237C>T (p.Pro413Ser)
|
|
|
|
NM_000147.5(FUCA1):c.1249T>G (p.Ser417Ala)
|
|
|
|
NM_000147.5(FUCA1):c.1260+14G>A
|
rs777928698
|
|
|
NM_000147.5(FUCA1):c.1260+14G>C
|
|
|
|
NM_000147.5(FUCA1):c.1260+14_1260+15insGACTGACTAA
|
rs571738393
|
|
|
NM_000147.5(FUCA1):c.1260+2T>A
|
|
|
|
NM_000147.5(FUCA1):c.1260+8G>A
|
|
|
|
NM_000147.5(FUCA1):c.1261-14T>A
|
|
|
|
NM_000147.5(FUCA1):c.1261-18C>T
|
|
|
|
NM_000147.5(FUCA1):c.1261-1G>A
|
|
|
|
NM_000147.5(FUCA1):c.1266A>G (p.Thr422=)
|
|
|
|
NM_000147.5(FUCA1):c.126G>A (p.Pro42=)
|
|
|
|
NM_000147.5(FUCA1):c.1272G>T (p.Leu424=)
|
rs2148436980
|
|
|
NM_000147.5(FUCA1):c.1281A>G (p.Gln427=)
|
|
|
|
NM_000147.5(FUCA1):c.1285_1286insT (p.Asp429fs)
|
rs1186488065
|
|
|
NM_000147.5(FUCA1):c.1286A>G (p.Asp429Gly)
|
|
|
|
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
|
|
|
|
NM_000147.5(FUCA1):c.1295G>A (p.Trp432Ter)
|
rs1639127458
|
|
|
NM_000147.5(FUCA1):c.1309G>C (p.Asp437His)
|
rs1639125891
|
|
|
NM_000147.5(FUCA1):c.1320C>G (p.Leu440=)
|
|
|
|
NM_000147.5(FUCA1):c.1323C>T (p.Phe441=)
|
|
|
|
NM_000147.5(FUCA1):c.1384C>A (p.Leu462Met)
|
rs770042348
|
|
|
NM_000147.5(FUCA1):c.1386G>C (p.Leu462=)
|
rs2148436874
|
|
|
NM_000147.5(FUCA1):c.1392A>T (p.Gly464=)
|
rs2148436869
|
|
|
NM_000147.5(FUCA1):c.151_160del (p.Ala51fs)
|
rs1570692560
|
|
|
NM_000147.5(FUCA1):c.153C>G (p.Ala51=)
|
|
|
|
NM_000147.5(FUCA1):c.15G>A (p.Gly5=)
|
|
|
|
NM_000147.5(FUCA1):c.15G>T (p.Gly5=)
|
|
|
|
NM_000147.5(FUCA1):c.162C>T (p.Asp54=)
|
|
|
|
NM_000147.5(FUCA1):c.167C>G (p.Ala56Gly)
|
rs886046325
|
|
|
NM_000147.5(FUCA1):c.167_170dup (p.Lys57fs)
|
|
|
|
NM_000147.5(FUCA1):c.16A>G (p.Met6Val)
|
|
|
|
NM_000147.5(FUCA1):c.170del (p.Lys57fs)
|
rs1639663980
|
|
|
NM_000147.5(FUCA1):c.177G>C (p.Gly59=)
|
|
|
|
NM_000147.5(FUCA1):c.185T>G (p.Ile62Ser)
|
rs2148450635
|
|
|
NM_000147.5(FUCA1):c.187C>T (p.His63Tyr)
|
rs2148450632
|
|
|
NM_000147.5(FUCA1):c.189C>T (p.His63=)
|
|
|
|
NM_000147.5(FUCA1):c.194G>A (p.Gly65Asp)
|
|
|
|
NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu)
|
|
|
|
NM_000147.5(FUCA1):c.209C>T (p.Pro70Leu)
|
rs770492031
|
|
|
NM_000147.5(FUCA1):c.212C>T (p.Ala71Val)
|
rs1224396509
|
|
|
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter)
|
rs1639662981
|
|
|
NM_000147.5(FUCA1):c.216G>A (p.Trp72Ter)
|
|
|
|
NM_000147.5(FUCA1):c.237del (p.Trp79fs)
|
rs1639662557
|
|
|
NM_000147.5(FUCA1):c.23C>A (p.Ser8Ter)
|
|
|
|
NM_000147.5(FUCA1):c.249C>T (p.Gly83=)
|
|
|
|
NM_000147.5(FUCA1):c.255G>A (p.Gly85=)
|
|
|
|
NM_000147.5(FUCA1):c.266A>T (p.Tyr89Phe)
|
|
|
|
NM_000147.5(FUCA1):c.27G>C (p.Arg9=)
|
|
|
|
NM_000147.5(FUCA1):c.291C>G (p.Tyr97Ter)
|
|
|
|
NM_000147.5(FUCA1):c.291C>T (p.Tyr97=)
|
|
|
|
NM_000147.5(FUCA1):c.293dup (p.Pro99fs)
|
|
|
|
NM_000147.5(FUCA1):c.297C>T (p.Pro99=)
|
|
|
|
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg)
|
rs2070956
|
|
|
NM_000147.5(FUCA1):c.30G>A (p.Pro10=)
|
|
|
|
NM_000147.5(FUCA1):c.312C>G (p.Ala104=)
|
|
|
|
NM_000147.5(FUCA1):c.315C>T (p.Asp105=)
|
|
|
|
NM_000147.5(FUCA1):c.31G>T (p.Ala11Ser)
|
rs1455700210
|
|
|
NM_000147.5(FUCA1):c.324G>T (p.Pro108=)
|
|
|
|
NM_000147.5(FUCA1):c.33G>T (p.Ala11=)
|
|
|
|
NM_000147.5(FUCA1):c.343T>C (p.Phe115Leu)
|
rs1639658693
|
|
|
NM_000147.5(FUCA1):c.345C>T (p.Phe115=)
|
|
|
|
NM_000147.5(FUCA1):c.351G>T (p.Pro117=)
|
|
|
|
NM_000147.5(FUCA1):c.355_364del (p.Glu119fs)
|
|
|
|
NM_000147.5(FUCA1):c.360G>T (p.Trp120Cys)
|
rs758745364
|
|
|
NM_000147.5(FUCA1):c.375G>A (p.Gln125=)
|
|
|
|
NM_000147.5(FUCA1):c.377C>T (p.Ala126Val)
|
rs780117609
|
|
|
NM_000147.5(FUCA1):c.385G>T (p.Ala129Ser)
|
|
|
|
NM_000147.5(FUCA1):c.389+13C>A
|
|
|
|
NM_000147.5(FUCA1):c.389+14C>G
|
|
|
|
NM_000147.5(FUCA1):c.389+15G>C
|
rs1395597191
|
|
|
NM_000147.5(FUCA1):c.389+18G>A
|
|
|
|
NM_000147.5(FUCA1):c.389+18del
|
|
|
|
NM_000147.5(FUCA1):c.389+20G>A
|
|
|
|
NM_000147.5(FUCA1):c.389+4A>C
|
|
|
|
NM_000147.5(FUCA1):c.389+6T>C
|
rs577790391
|
|
|
NM_000147.5(FUCA1):c.390-11G>C
|
|
|
|
NM_000147.5(FUCA1):c.390-6C>T
|
|
|
|
NM_000147.5(FUCA1):c.390-95_768+150del
|
|
|
|
NM_000147.5(FUCA1):c.390-9T>C
|
|
|
|
NM_000147.5(FUCA1):c.393T>A (p.Tyr131Ter)
|
rs781230182
|
|
|
NM_000147.5(FUCA1):c.393T>C (p.Tyr131=)
|
|
|
|
NM_000147.5(FUCA1):c.400T>G (p.Leu134Val)
|
|
|
|
NM_000147.5(FUCA1):c.402G>A (p.Leu134=)
|
|
|
|
NM_000147.5(FUCA1):c.404C>A (p.Thr135Lys)
|
rs779017131
|
|
|
NM_000147.5(FUCA1):c.404C>G (p.Thr135Arg)
|
rs779017131
|
|
|
NM_000147.5(FUCA1):c.404C>T (p.Thr135Met)
|
|
|
|
NM_000147.5(FUCA1):c.417C>T (p.His139=)
|
|
|
|
NM_000147.5(FUCA1):c.420A>C (p.Glu140Asp)
|
rs1639606764
|
|
|
NM_000147.5(FUCA1):c.422G>C (p.Gly141Ala)
|
|
|
|
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val)
|
rs753232669
|
|
|
NM_000147.5(FUCA1):c.423C>T (p.Gly141=)
|
|
|
|
NM_000147.5(FUCA1):c.42G>A (p.Ala14=)
|
|
|
|
NM_000147.5(FUCA1):c.437C>G (p.Pro146Arg)
|
|
|
|
NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu)
|
rs2228424
|
|
|
NM_000147.5(FUCA1):c.437del (p.Pro146fs)
|
|
|
|
NM_000147.5(FUCA1):c.459G>A (p.Trp153Ter)
|
|
|
|
NM_000147.5(FUCA1):c.45G>A (p.Leu15=)
|
|
|
|
NM_000147.5(FUCA1):c.460_475del (p.Asn154fs)
|
|
|
|
NM_000147.5(FUCA1):c.462C>T (p.Asn154=)
|
|
|
|
NM_000147.5(FUCA1):c.464C>T (p.Ser155Phe)
|
rs587779398
|
|
|
NM_000147.5(FUCA1):c.46T>C (p.Leu16=)
|
|
|
|
NM_000147.5(FUCA1):c.46_48dup (p.Leu20_Phe21insLeu)
|
|
|
|
NM_000147.5(FUCA1):c.471C>T (p.Asp157=)
|
|
|
|
NM_000147.5(FUCA1):c.474G>A (p.Val158=)
|
|
|
|
NM_000147.5(FUCA1):c.489T>C (p.Asp163=)
|
rs1639604269
|
|
|
NM_000147.5(FUCA1):c.48GCT[5] (p.Leu20dup)
|
rs756742678
|
|
|
NM_000147.5(FUCA1):c.4C>A (p.Arg2=)
|
rs2070955
|
|
|
NM_000147.5(FUCA1):c.4C>G (p.Arg2Gly)
|
rs2070955
|
|
|
NM_000147.5(FUCA1):c.516C>G (p.Leu172=)
|
|
|
|
NM_000147.5(FUCA1):c.519G>A (p.Arg173=)
|
|
|
|
NM_000147.5(FUCA1):c.51G>A (p.Leu17=)
|
|
|
|
NM_000147.5(FUCA1):c.524+12G>C
|
|
|
|
NM_000147.5(FUCA1):c.524+14G>A
|
|
|
|
NM_000147.5(FUCA1):c.524+17G>T
|
|
|
|
NM_000147.5(FUCA1):c.524+18G>T
|
rs2148449061
|
|
|
NM_000147.5(FUCA1):c.524+4_524+5del
|
rs1158652644
|
|
|
NM_000147.5(FUCA1):c.524+7G>A
|
|
|
|
NM_000147.5(FUCA1):c.524+9C>T
|
|
|
|
NM_000147.5(FUCA1):c.525-13T>C
|
|
|
|
NM_000147.5(FUCA1):c.525-15_525-14del
|
|
|
|
NM_000147.5(FUCA1):c.525-19TTCTGTTT[3]
|
rs864309552
|
|
|
NM_000147.5(FUCA1):c.525-20G>A
|
|
|
|
NM_000147.5(FUCA1):c.525-7G>C
|
|
|
|
NM_000147.5(FUCA1):c.525-9_525-5del
|
rs759886522
|
|
|
NM_000147.5(FUCA1):c.541C>T (p.Leu181=)
|
rs760734726
|
|
|
NM_000147.5(FUCA1):c.543A>G (p.Leu181=)
|
|
|
|
NM_000147.5(FUCA1):c.54G>A (p.Leu18=)
|
|
|
|
NM_000147.5(FUCA1):c.557T>A (p.Leu186Ter)
|
|
|
|
NM_000147.5(FUCA1):c.55_60dup (p.Leu20_Phe21insLeuLeu)
|
|
|
|
NM_000147.5(FUCA1):c.563G>A (p.Trp188Ter)
|
|
|
|
NM_000147.5(FUCA1):c.564G>A (p.Trp188Ter)
|
rs189315801
|
|
|
NM_000147.5(FUCA1):c.573A>G (p.Pro191=)
|
|
|
|
NM_000147.5(FUCA1):c.574C>G (p.Leu192Val)
|
rs2148447710
|
|
|
NM_000147.5(FUCA1):c.577dup (p.Tyr193fs)
|
|
|
|
NM_000147.5(FUCA1):c.579T>A (p.Tyr193Ter)
|
|
|
|
NM_000147.5(FUCA1):c.580C>A (p.Leu194Ile)
|
rs1639545879
|
|
|
NM_000147.5(FUCA1):c.585T>G (p.Leu195=)
|
|
|
|
NM_000147.5(FUCA1):c.5G>A (p.Arg2Gln)
|
|
|
|
NM_000147.5(FUCA1):c.606A>C (p.Lys202Asn)
|
|
|
|
NM_000147.5(FUCA1):c.607del (p.Thr203fs)
|
|
|
|
NM_000147.5(FUCA1):c.609A>G (p.Thr203=)
|
|
|
|
NM_000147.5(FUCA1):c.610_614del (p.Gln204fs)
|
|
|
|
NM_000147.5(FUCA1):c.614A>G (p.His205Arg)
|
rs2148447684
|
|
|
NM_000147.5(FUCA1):c.648C>A (p.Tyr216Ter)
|
rs80358198
|
|
|
NM_000147.5(FUCA1):c.654T>C (p.Leu218=)
|
|
|
|
NM_000147.5(FUCA1):c.655G>T (p.Val219Phe)
|
|
|
|
NM_000147.5(FUCA1):c.657T>C (p.Val219=)
|
|
|
|
NM_000147.5(FUCA1):c.661del (p.Ser221fs)
|
|
|
|
NM_000147.5(FUCA1):c.662+10T>A
|
|
|
|
NM_000147.5(FUCA1):c.662+12A>G
|
|
|
|
NM_000147.5(FUCA1):c.662+3A>G
|
|
|
|
NM_000147.5(FUCA1):c.662+5G>C
|
rs941666554
|
|
|
NM_000147.5(FUCA1):c.662_662+8del
|
rs766794815
|
|
|
NM_000147.5(FUCA1):c.663-11_663-10del
|
|
|
|
NM_000147.5(FUCA1):c.663-3C>T
|
|
|
|
NM_000147.5(FUCA1):c.66C>T (p.Leu22=)
|
|
|
|
NM_000147.5(FUCA1):c.671del (p.Pro224fs)
|
rs2148446020
|
|
|
NM_000147.5(FUCA1):c.679_683del (p.Ile227fs)
|
|
|
|
NM_000147.5(FUCA1):c.679_683dup (p.Trp228Ter)
|
|
|
|
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg)
|
rs1639470403
|
|
|
NM_000147.5(FUCA1):c.698G>A (p.Trp233Ter)
|
|
|
|
NM_000147.5(FUCA1):c.699G>A (p.Trp233Ter)
|
|
|
|
NM_000147.5(FUCA1):c.6G>C (p.Arg2=)
|
|
|
|
NM_000147.5(FUCA1):c.70G>A (p.Ala24Thr)
|
|
|
|
NM_000147.5(FUCA1):c.729A>G (p.Thr243=)
|
|
|
|
NM_000147.5(FUCA1):c.72G>A (p.Ala24=)
|
|
|
|
NM_000147.5(FUCA1):c.738T>G (p.Leu246=)
|
|
|
|
NM_000147.5(FUCA1):c.750C>T (p.Tyr250=)
|
|
|
|
NM_000147.5(FUCA1):c.755A>G (p.Asp252Gly)
|
rs779515820
|
|
|
NM_000147.5(FUCA1):c.768+19T>A
|
|
|
|
NM_000147.5(FUCA1):c.768+1G>A
|
rs1639468949
|
|
|
NM_000147.5(FUCA1):c.768+1G>T
|
|
|
|
NM_000147.5(FUCA1):c.768+8A>G
|
rs752291671
|
|
|
NM_000147.5(FUCA1):c.769-14C>A
|
|
|
|
NM_000147.5(FUCA1):c.769-18T>C
|
|
|
|
NM_000147.5(FUCA1):c.769-2A>C
|
|
|
|
NM_000147.5(FUCA1):c.769-4T>C
|
|
|
|
NM_000147.5(FUCA1):c.775G>T (p.Val259Leu)
|
|
|
|
NM_000147.5(FUCA1):c.777G>A (p.Val259=)
|
|
|
|
NM_000147.5(FUCA1):c.781G>A (p.Val261Ile)
|
|
|
|
NM_000147.5(FUCA1):c.783A>G (p.Val261=)
|
|
|
|
NM_000147.5(FUCA1):c.7G>A (p.Ala3Thr)
|
rs61996282
|
|
|
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro)
|
rs61996282
|
|
|
NM_000147.5(FUCA1):c.7del (p.Ala3fs)
|
rs1639669672
|
|
|
NM_000147.5(FUCA1):c.80C>A (p.Ser27Ter)
|
|
|
|
NM_000147.5(FUCA1):c.810del (p.Cys271fs)
|
rs1557510081
|
|
|
NM_000147.5(FUCA1):c.81G>C (p.Ser27=)
|
|
|
|
NM_000147.5(FUCA1):c.82del (p.Val28fs)
|
rs1639666186
|
|
|
NM_000147.5(FUCA1):c.843T>C (p.Asp281=)
|
|
|
|
NM_000147.5(FUCA1):c.849C>A (p.Phe283Leu)
|
rs754452752
|
|
|
NM_000147.5(FUCA1):c.84G>T (p.Val28=)
|
|
|
|
NM_000147.5(FUCA1):c.863T>G (p.Leu288Trp)
|
|
|
|
NM_000147.5(FUCA1):c.86G>T (p.Arg29Leu)
|
rs1639666097
|
|
|
NM_000147.5(FUCA1):c.871C>G (p.His291Asp)
|
rs2148442832
|
|
|
NM_000147.5(FUCA1):c.89G>C (p.Arg30Pro)
|
|
|
|
NM_000147.5(FUCA1):c.8C>T (p.Ala3Val)
|
|
|
|
NM_000147.5(FUCA1):c.905T>C (p.Phe302Ser)
|
|
|
|
NM_000147.5(FUCA1):c.908C>T (p.Ser303Phe)
|
|
|
|
NM_000147.5(FUCA1):c.910T>C (p.Trp304Arg)
|
rs2148442806
|
|
|
NM_000147.5(FUCA1):c.917A>G (p.Tyr306Cys)
|
|
|
|
NM_000147.5(FUCA1):c.917A>T (p.Tyr306Phe)
|
rs749790121
|
|
|
NM_000147.5(FUCA1):c.91G>A (p.Ala31Thr)
|
rs774539460
|
|
|
NM_000147.5(FUCA1):c.920G>A (p.Arg307His)
|
|
|
|
NM_000147.5(FUCA1):c.933A>G (p.Ala311=)
|
|
|
|
NM_000147.5(FUCA1):c.93C>T (p.Ala31=)
|
|
|
|
NM_000147.5(FUCA1):c.943G>A (p.Val315Ile)
|
rs746590345
|
|
|
NM_000147.5(FUCA1):c.949G>A (p.Glu317Lys)
|
|
|
|
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)
|
rs201499886
|
|
|
NM_000147.5(FUCA1):c.954A>G (p.Glu318=)
|
|
|
|
NM_000147.5(FUCA1):c.969+11C>A
|
rs2148442736
|
|
|
NM_000147.5(FUCA1):c.969+15G>A
|
|
|
|
NM_000147.5(FUCA1):c.969+1G>A
|
rs1570679652
|
|
|
NM_000147.5(FUCA1):c.969+1G>T
|
|
|
|
NM_000147.5(FUCA1):c.969+5G>A
|
|
|
|
NM_000147.5(FUCA1):c.969G>A (p.Ser323=)
|
|
|
|
NM_000147.5(FUCA1):c.970-12T>C
|
|
|
|
NM_000147.5(FUCA1):c.970-17G>A
|
|
|
|
NM_000147.5(FUCA1):c.970-18T>C
|
|
|
|
NM_000147.5(FUCA1):c.970-6C>T
|
|
|
|
NM_000147.5(FUCA1):c.970-7T>C
|
|
|
|
NM_000147.5(FUCA1):c.971A>G (p.Glu324Gly)
|
|
|
|
NM_000147.5(FUCA1):c.995G>A (p.Gly332Glu)
|
rs1177361428
|
|
|
NM_000147.5(FUCA1):c.998G>A (p.Gly333Asp)
|
|
|
|
NM_000147.5(FUCA1):c.9T>C (p.Ala3=)
|
|
|
|
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys)
|
rs1556405057
|
|