NM_001159699.2(FHL1):c.737-8C>T
|
rs2076705
|
0.53498
|
NM_001159699.2(FHL1):c.737-13T>C
|
rs11798700
|
0.01269
|
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn)
|
rs151315725
|
0.01175
|
NM_001159699.2(FHL1):c.204+5C>T
|
rs182106777
|
0.00542
|
NM_001159699.2(FHL1):c.489C>T (p.Asp163=)
|
rs149670651
|
0.00162
|
NM_001159699.2(FHL1):c.498C>T (p.Cys166=)
|
rs145445372
|
0.00107
|
NM_001159699.2(FHL1):c.786C>T (p.His262=)
|
rs141231353
|
0.00074
|
NM_001159699.2(FHL1):c.114G>A (p.Lys38=)
|
rs140149764
|
0.00067
|
NM_001159699.2(FHL1):c.225C>A (p.Arg75=)
|
rs143791173
|
0.00037
|
NM_001159699.2(FHL1):c.331C>T (p.Arg111Trp)
|
rs150911744
|
0.00030
|
NM_001159702.3(FHL1):c.760C>T (p.Arg254Cys)
|
rs367592190
|
0.00023
|
NM_001159699.2(FHL1):c.737-9T>C
|
rs914754937
|
0.00022
|
NM_001159699.2(FHL1):c.652G>A (p.Ala218Thr)
|
rs752366165
|
0.00018
|
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile)
|
rs139402062
|
0.00017
|
NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn)
|
rs754308516
|
0.00011
|
NM_001159699.2(FHL1):c.380-7T>C
|
rs759571993
|
0.00010
|
NM_001159699.2(FHL1):c.737-11_737-8del
|
rs754404850
|
0.00010
|
NM_001159699.2(FHL1):c.278A>G (p.Asn93Ser)
|
rs761300463
|
0.00009
|
NM_001159699.2(FHL1):c.736+8A>G
|
rs376754350
|
0.00007
|
NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu)
|
rs781053469
|
0.00006
|
NM_001159699.2(FHL1):c.408C>T (p.Thr136=)
|
rs755900253
|
0.00005
|
NM_001159699.2(FHL1):c.456C>T (p.Ile152=)
|
rs747594885
|
0.00005
|
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val)
|
rs146125558
|
0.00005
|
NM_001159699.2(FHL1):c.550-15C>A
|
rs764137409
|
0.00005
|
NM_001159699.2(FHL1):c.696T>C (p.Phe232=)
|
rs758030097
|
0.00005
|
NM_001159699.2(FHL1):c.737-18C>T
|
rs866716263
|
0.00005
|
NM_001159699.2(FHL1):c.817G>A (p.Val273Met)
|
rs190006104
|
0.00005
|
NM_001159699.2(FHL1):c.243C>T (p.Cys81=)
|
rs777580253
|
0.00004
|
NM_001159699.2(FHL1):c.380-16T>C
|
rs772665517
|
0.00004
|
NM_001159699.2(FHL1):c.651C>T (p.Thr217=)
|
rs370597064
|
0.00004
|
NM_001159699.2(FHL1):c.737-10T>C
|
rs767421819
|
0.00004
|
NM_001159699.2(FHL1):c.737-5C>A
|
rs771803774
|
0.00004
|
NM_001159699.2(FHL1):c.248G>A (p.Arg83His)
|
rs745544703
|
0.00003
|
NM_001159699.2(FHL1):c.253G>A (p.Ala85Thr)
|
rs139625615
|
0.00003
|
NM_001159699.2(FHL1):c.340T>A (p.Ser114Thr)
|
rs756434530
|
0.00003
|
NM_001159699.2(FHL1):c.379+4C>T
|
rs769453769
|
0.00003
|
NM_001159699.2(FHL1):c.549+7T>G
|
rs771700018
|
0.00003
|
NM_001159699.2(FHL1):c.792C>T (p.Tyr264=)
|
rs755385158
|
0.00003
|
NM_001159699.2(FHL1):c.816C>T (p.Ser272=)
|
rs758552293
|
0.00003
|
NM_001159699.2(FHL1):c.832A>G (p.Lys278Glu)
|
rs749265329
|
0.00003
|
NM_001159699.2(FHL1):c.834G>A (p.Lys278=)
|
rs200510559
|
0.00003
|
NM_001159699.2(FHL1):c.161A>G (p.Asn54Ser)
|
rs886043917
|
0.00002
|
NM_001159699.2(FHL1):c.179G>A (p.Arg60His)
|
rs11557264
|
0.00002
|
NM_001159699.2(FHL1):c.204+18G>T
|
rs764595951
|
0.00002
|
NM_001159699.2(FHL1):c.205-9G>C
|
rs1178092343
|
0.00002
|
NM_001159699.2(FHL1):c.215A>G (p.Tyr72Cys)
|
rs758269641
|
0.00002
|
NM_001159699.2(FHL1):c.247C>T (p.Arg83Cys)
|
rs1379221574
|
0.00002
|
NM_001159699.2(FHL1):c.284C>A (p.Thr95Asn)
|
rs764567944
|
0.00002
|
NM_001159699.2(FHL1):c.391G>T (p.Val131Leu)
|
rs374479477
|
0.00002
|
NM_001159699.2(FHL1):c.447G>A (p.Lys149=)
|
rs768142579
|
0.00002
|
NM_001159699.2(FHL1):c.534C>T (p.Cys178=)
|
rs377693754
|
0.00002
|
NM_001159699.2(FHL1):c.545A>G (p.Asn182Ser)
|
rs1569530504
|
0.00002
|
NM_001159699.2(FHL1):c.573T>G (p.Thr191=)
|
rs2073910530
|
0.00002
|
NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg)
|
rs1230410861
|
0.00002
|
NM_001159699.2(FHL1):c.612T>C (p.Cys204=)
|
rs752193492
|
0.00002
|
NM_001159699.2(FHL1):c.644G>A (p.Arg215His)
|
rs886043053
|
0.00002
|
NM_001159699.2(FHL1):c.737-12_737-8del
|
rs761074507
|
0.00002
|
NM_001159699.2(FHL1):c.809A>G (p.Lys270Arg)
|
rs768705041
|
0.00002
|
NM_001159699.2(FHL1):c.856C>G (p.Gln286Glu)
|
rs747922027
|
0.00002
|
NM_001159699.2(FHL1):c.110A>G (p.Gln37Arg)
|
rs1187549360
|
0.00001
|
NM_001159699.2(FHL1):c.118G>A (p.Gly40Ser)
|
rs772911535
|
0.00001
|
NM_001159699.2(FHL1):c.137A>G (p.Lys46Arg)
|
rs1226091388
|
0.00001
|
NM_001159699.2(FHL1):c.148A>G (p.Lys50Glu)
|
rs754421860
|
0.00001
|
NM_001159699.2(FHL1):c.159C>T (p.Ala53=)
|
rs1458693544
|
0.00001
|
NM_001159699.2(FHL1):c.165C>T (p.Thr55=)
|
rs770499208
|
0.00001
|
NM_001159699.2(FHL1):c.168T>C (p.Cys56=)
|
rs1192668098
|
0.00001
|
NM_001159699.2(FHL1):c.189C>T (p.Ile63=)
|
rs1424503926
|
0.00001
|
NM_001159699.2(FHL1):c.194C>T (p.Ala65Val)
|
rs372301312
|
0.00001
|
NM_001159699.2(FHL1):c.195G>A (p.Ala65=)
|
rs1394298803
|
0.00001
|
NM_001159699.2(FHL1):c.204+6G>A
|
rs763404867
|
0.00001
|
NM_001159699.2(FHL1):c.213C>T (p.His71=)
|
rs917304507
|
0.00001
|
NM_001159699.2(FHL1):c.239C>T (p.Thr80Ile)
|
rs746834335
|
0.00001
|
NM_001159699.2(FHL1):c.302A>G (p.Asn101Ser)
|
rs774919566
|
0.00001
|
NM_001159699.2(FHL1):c.303C>G (p.Asn101Lys)
|
rs762126486
|
0.00001
|
NM_001159699.2(FHL1):c.322T>A (p.Cys108Ser)
|
rs1375411779
|
0.00001
|
NM_001159699.2(FHL1):c.379+8C>T
|
rs1278172802
|
0.00001
|
NM_001159699.2(FHL1):c.380-9C>A
|
rs766762163
|
0.00001
|
NM_001159699.2(FHL1):c.401A>C (p.Lys134Thr)
|
rs1457366238
|
0.00001
|
NM_001159699.2(FHL1):c.457G>A (p.Gly153Arg)
|
rs191071512
|
0.00001
|
NM_001159699.2(FHL1):c.480A>C (p.Lys160Asn)
|
rs1157004659
|
0.00001
|
NM_001159699.2(FHL1):c.499G>A (p.Val167Met)
|
rs1332573754
|
0.00001
|
NM_001159699.2(FHL1):c.501G>A (p.Val167=)
|
rs765313795
|
0.00001
|
NM_001159699.2(FHL1):c.519G>A (p.Lys173=)
|
rs750331409
|
0.00001
|
NM_001159699.2(FHL1):c.531T>C (p.His177=)
|
rs1268549852
|
0.00001
|
NM_001159699.2(FHL1):c.537G>C (p.Val179=)
|
rs753535765
|
0.00001
|
NM_001159699.2(FHL1):c.549+5G>A
|
rs747714932
|
0.00001
|
NM_001159699.2(FHL1):c.550-10C>T
|
rs376922604
|
0.00001
|
NM_001159699.2(FHL1):c.550-4C>T
|
rs1188178386
|
0.00001
|
NM_001159699.2(FHL1):c.551C>T (p.Ala184Val)
|
rs753677369
|
0.00001
|
NM_001159699.2(FHL1):c.579G>C (p.Gln193His)
|
rs2073910764
|
0.00001
|
NM_001159699.2(FHL1):c.607G>T (p.Val203Leu)
|
rs1300278653
|
0.00001
|
NM_001159699.2(FHL1):c.60G>A (p.Lys20=)
|
rs1297632047
|
0.00001
|
NM_001159699.2(FHL1):c.708G>A (p.Lys236=)
|
rs1253823085
|
0.00001
|
NM_001159699.2(FHL1):c.711T>C (p.Cys237=)
|
rs757798011
|
0.00001
|
NM_001159699.2(FHL1):c.728C>A (p.Pro243His)
|
rs746311721
|
0.00001
|
NM_001159699.2(FHL1):c.729C>G (p.Pro243=)
|
rs1060504733
|
0.00001
|
NM_001159699.2(FHL1):c.736+18T>C
|
rs774416768
|
0.00001
|
NM_001159699.2(FHL1):c.737-14T>C
|
rs769912263
|
0.00001
|
NM_001159699.2(FHL1):c.737-2dup
|
rs752156219
|
0.00001
|
NM_001159699.2(FHL1):c.767A>C (p.Tyr256Ser)
|
rs1161827184
|
0.00001
|
NM_001159699.2(FHL1):c.789C>T (p.Asp263=)
|
rs1057523997
|
0.00001
|
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)
|
rs869025431
|
0.00001
|
NM_001159699.2(FHL1):c.836G>A (p.Arg279His)
|
rs377071251
|
0.00001
|
NM_001159699.2(FHL1):c.861G>T (p.Val287=)
|
rs886043219
|
0.00001
|
NM_001159699.2(FHL1):c.863A>T (p.Tyr288Phe)
|
rs760214177
|
0.00001
|
NM_001159699.2(FHL1):c.870C>T (p.Pro290=)
|
rs775356347
|
0.00001
|
NM_001159702.3(FHL1):c.714C>T (p.Ser238=)
|
rs780429969
|
0.00001
|
NM_001159702.3(FHL1):c.797G>A (p.Arg266Gln)
|
rs199818971
|
0.00001
|
GRCh38/hg38 Xq26.3(chrX:136209840-136213009)x0
|
|
|
NC_000023.10:g.(?_135284455)_(135289168_?)del
|
|
|
NC_000023.10:g.(?_135288556)_(135293528_?)del
|
|
|
NC_000023.10:g.(?_135288556)_(135293528_?)dup
|
|
|
NC_000023.10:g.(?_135288592)_(135292184_?)dup
|
|
|
NC_000023.10:g.(?_135289169)_(135292189_?)dup
|
|
|
NC_000023.10:g.(?_135292010)_(135292184_?)del
|
|
|
NC_000023.11:g.(?_136209233)_(136211369_?)del
|
|
|
NM_001159699.2(FHL1):c.104dup (p.Tyr35Ter)
|
|
|
NM_001159699.2(FHL1):c.105T>C (p.Tyr35=)
|
|
|
NM_001159699.2(FHL1):c.108G>A (p.Val36=)
|
rs2073842775
|
|
NM_001159699.2(FHL1):c.108del (p.Gln37fs)
|
rs1060502840
|
|
NM_001159699.2(FHL1):c.111A>G (p.Gln37=)
|
|
|
NM_001159699.2(FHL1):c.120C>A (p.Gly40=)
|
|
|
NM_001159699.2(FHL1):c.121C>T (p.His41Tyr)
|
rs1569530250
|
|
NM_001159699.2(FHL1):c.132C>T (p.Cys44=)
|
|
|
NM_001159699.2(FHL1):c.135G>A (p.Leu45=)
|
rs1603270464
|
|
NM_001159699.2(FHL1):c.139T>C (p.Cys47Arg)
|
|
|
NM_001159699.2(FHL1):c.140_141delinsTA (p.Cys47Leu)
|
rs2148371771
|
|
NM_001159699.2(FHL1):c.143T>A (p.Phe48Tyr)
|
|
|
NM_001159699.2(FHL1):c.143T>C (p.Phe48Ser)
|
|
|
NM_001159699.2(FHL1):c.146A>G (p.Asp49Gly)
|
|
|
NM_001159699.2(FHL1):c.148A>C (p.Lys50Gln)
|
rs754421860
|
|
NM_001159699.2(FHL1):c.150G>T (p.Lys50Asn)
|
|
|
NM_001159699.2(FHL1):c.156T>A (p.Cys52Ter)
|
|
|
NM_001159699.2(FHL1):c.166T>C (p.Cys56Arg)
|
rs2148371880
|
|
NM_001159699.2(FHL1):c.167G>A (p.Cys56Tyr)
|
rs1556638703
|
|
NM_001159699.2(FHL1):c.177C>T (p.Cys59=)
|
|
|
NM_001159699.2(FHL1):c.178C>T (p.Arg60Cys)
|
|
|
NM_001159699.2(FHL1):c.183G>A (p.Lys61=)
|
rs780792982
|
|
NM_001159699.2(FHL1):c.190G>A (p.Gly64Ser)
|
rs1467233713
|
|
NM_001159699.2(FHL1):c.198C>T (p.Asp66=)
|
|
|
NM_001159699.2(FHL1):c.199T>C (p.Ser67Pro)
|
|
|
NM_001159699.2(FHL1):c.200C>T (p.Ser67Phe)
|
rs1327221666
|
|
NM_001159699.2(FHL1):c.204+17T>C
|
|
|
NM_001159699.2(FHL1):c.204+7G>C
|
|
|
NM_001159699.2(FHL1):c.205-13G>A
|
|
|
NM_001159699.2(FHL1):c.205-14T>C
|
|
|
NM_001159699.2(FHL1):c.205-19C>T
|
|
|
NM_001159699.2(FHL1):c.205-1G>A
|
rs2073859427
|
|
NM_001159699.2(FHL1):c.215A>T (p.Tyr72Phe)
|
|
|
NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter)
|
rs2073860048
|
|
NM_001159699.2(FHL1):c.222C>T (p.Asn74=)
|
|
|
NM_001159699.2(FHL1):c.223C>T (p.Arg75Cys)
|
rs1343871742
|
|
NM_001159699.2(FHL1):c.225C>T (p.Arg75=)
|
|
|
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn)
|
rs746834335
|
|
NM_001159699.2(FHL1):c.240C>T (p.Thr80=)
|
|
|
NM_001159699.2(FHL1):c.243C>A (p.Cys81Ter)
|
rs777580253
|
|
NM_001159699.2(FHL1):c.246C>T (p.Phe82=)
|
|
|
NM_001159699.2(FHL1):c.258G>C (p.Lys86Asn)
|
rs2073861633
|
|
NM_001159699.2(FHL1):c.259T>C (p.Cys87Arg)
|
rs2148373315
|
|
NM_001159699.2(FHL1):c.261C>T (p.Cys87=)
|
|
|
NM_001159699.2(FHL1):c.263T>C (p.Leu88Pro)
|
|
|
NM_001159699.2(FHL1):c.263_276del (p.Leu88fs)
|
|
|
NM_001159699.2(FHL1):c.268C>T (p.Pro90Ser)
|
|
|
NM_001159699.2(FHL1):c.288del (p.Phe96fs)
|
rs2148373432
|
|
NM_001159699.2(FHL1):c.297G>A (p.Lys99=)
|
|
|
NM_001159699.2(FHL1):c.300CAA[1] (p.Asn101del)
|
rs1237021594
|
|
NM_001159699.2(FHL1):c.301A>C (p.Asn101His)
|
rs2073862975
|
|
NM_001159699.2(FHL1):c.309C>A (p.Ile103=)
|
rs372049507
|
|
NM_001159699.2(FHL1):c.317A>G (p.Asn106Ser)
|
|
|
NM_001159699.2(FHL1):c.339dup (p.Ser114fs)
|
|
|
NM_001159699.2(FHL1):c.349T>C (p.Cys117Arg)
|
rs2073864792
|
|
NM_001159699.2(FHL1):c.353A>T (p.Lys118Met)
|
rs1311888697
|
|
NM_001159699.2(FHL1):c.356G>T (p.Gly119Val)
|
rs1556638919
|
|
NM_001159699.2(FHL1):c.360C>G (p.Cys120Trp)
|
rs1277704131
|
|
NM_001159699.2(FHL1):c.360dup (p.Phe121fs)
|
rs1556638935
|
|
NM_001159699.2(FHL1):c.377_379+24del
|
rs2148373814
|
|
NM_001159699.2(FHL1):c.379+10C>T
|
rs2148373876
|
|
NM_001159699.2(FHL1):c.379+11C>T
|
|
|
NM_001159699.2(FHL1):c.379+18C>T
|
rs2148373890
|
|
NM_001159699.2(FHL1):c.379+19C>A
|
|
|
NM_001159699.2(FHL1):c.379+19C>T
|
|
|
NM_001159699.2(FHL1):c.379+1G>A
|
rs2073866799
|
|
NM_001159699.2(FHL1):c.379+7C>T
|
|
|
NM_001159699.2(FHL1):c.380-10C>G
|
|
|
NM_001159699.2(FHL1):c.380-14G>A
|
|
|
NM_001159699.2(FHL1):c.380-16T>G
|
|
|
NM_001159699.2(FHL1):c.380-2A>G
|
rs2148375467
|
|
NM_001159699.2(FHL1):c.380-6C>T
|
|
|
NM_001159699.2(FHL1):c.380-9C>T
|
rs766762163
|
|
NM_001159699.2(FHL1):c.385C>A (p.Gln129Lys)
|
|
|
NM_001159699.2(FHL1):c.388_390dup (p.Asn130dup)
|
rs2073883748
|
|
NM_001159699.2(FHL1):c.390C>T (p.Asn130=)
|
|
|
NM_001159699.2(FHL1):c.391G>A (p.Val131Met)
|
|
|
NM_001159699.2(FHL1):c.393G>A (p.Val131=)
|
rs2148375546
|
|
NM_001159699.2(FHL1):c.393_394dup (p.Glu132fs)
|
|
|
NM_001159699.2(FHL1):c.398A>G (p.Tyr133Cys)
|
|
|
NM_001159699.2(FHL1):c.404G>C (p.Gly135Ala)
|
rs886042453
|
|
NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)
|
rs1569530437
|
|
NM_001159699.2(FHL1):c.413G>A (p.Trp138Ter)
|
rs122458140
|
|
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys)
|
rs1556639109
|
|
NM_001159699.2(FHL1):c.414del (p.Trp138fs)
|
rs2148375686
|
|
NM_001159699.2(FHL1):c.416A>G (p.His139Arg)
|
rs267606812
|
|
NM_001159699.2(FHL1):c.417C>A (p.His139Gln)
|
rs267606813
|
|
NM_001159699.2(FHL1):c.417C>G (p.His139Gln)
|
rs267606813
|
|
NM_001159699.2(FHL1):c.419A>G (p.Lys140Arg)
|
|
|
NM_001159699.2(FHL1):c.419_420del (p.Lys140fs)
|
rs2073885767
|
|
NM_001159699.2(FHL1):c.424T>C (p.Cys142Arg)
|
rs1569530450
|
|
NM_001159699.2(FHL1):c.425G>C (p.Cys142Ser)
|
|
|
NM_001159699.2(FHL1):c.427T>C (p.Phe143Leu)
|
rs1603271576
|
|
NM_001159699.2(FHL1):c.428_430dup (p.Phe143_Thr144insIle)
|
rs1603271580
|
|
NM_001159699.2(FHL1):c.429C>T (p.Phe143=)
|
|
|
NM_001159699.2(FHL1):c.432C>G (p.Thr144=)
|
rs1603271583
|
|
NM_001159699.2(FHL1):c.432C>T (p.Thr144=)
|
rs1603271583
|
|
NM_001159699.2(FHL1):c.436A>G (p.Ser146Gly)
|
rs878854460
|
|
NM_001159699.2(FHL1):c.441del (p.Cys148fs)
|
rs2148375860
|
|
NM_001159699.2(FHL1):c.449A>C (p.Gln150Pro)
|
rs2148375919
|
|
NM_001159699.2(FHL1):c.452T>A (p.Val151Asp)
|
rs2073887416
|
|
NM_001159699.2(FHL1):c.456C>A (p.Ile152=)
|
rs747594885
|
|
NM_001159699.2(FHL1):c.466A>C (p.Ser156Arg)
|
|
|
NM_001159699.2(FHL1):c.466_470del (p.Ser156fs)
|
rs1556639151
|
|
NM_001159699.2(FHL1):c.469T>C (p.Phe157Leu)
|
rs2073888626
|
|
NM_001159699.2(FHL1):c.471C>T (p.Phe157=)
|
rs2148376029
|
|
NM_001159699.2(FHL1):c.482_484dup (p.Gly161dup)
|
rs1314023088
|
|
NM_001159699.2(FHL1):c.494A>G (p.Tyr165Cys)
|
rs2148376111
|
|
NM_001159699.2(FHL1):c.494_496del (p.Tyr165del)
|
rs886044209
|
|
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)
|
rs1603271659
|
|
NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr)
|
rs122459146
|
|
NM_001159699.2(FHL1):c.498C>G (p.Cys166Trp)
|
rs145445372
|
|
NM_001159699.2(FHL1):c.500T>G (p.Val167Gly)
|
|
|
NM_001159699.2(FHL1):c.502A>T (p.Thr168Ser)
|
rs2073890274
|
|
NM_001159699.2(FHL1):c.505T>A (p.Cys169Ser)
|
rs122458144
|
|
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg)
|
rs122458144
|
|
NM_001159699.2(FHL1):c.505T>G (p.Cys169Gly)
|
rs122458144
|
|
NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr)
|
rs122458145
|
|
NM_001159699.2(FHL1):c.507C>G (p.Cys169Trp)
|
|
|
NM_001159699.2(FHL1):c.50T>C (p.Met17Thr)
|
|
|
NM_001159699.2(FHL1):c.510T>C (p.His170=)
|
rs1603271708
|
|
NM_001159699.2(FHL1):c.515C>A (p.Thr172Asn)
|
|
|
NM_001159699.2(FHL1):c.518del (p.Lys173fs)
|
|
|
NM_001159699.2(FHL1):c.525C>T (p.Ala175=)
|
|
|
NM_001159699.2(FHL1):c.530A>G (p.His177Arg)
|
|
|
NM_001159699.2(FHL1):c.531T>G (p.His177Gln)
|
|
|
NM_001159699.2(FHL1):c.534C>G (p.Cys178Trp)
|
rs377693754
|
|
NM_001159699.2(FHL1):c.536T>G (p.Val179Gly)
|
rs1556639237
|
|
NM_001159699.2(FHL1):c.545A>C (p.Asn182Thr)
|
rs1569530504
|
|
NM_001159699.2(FHL1):c.549+20C>T
|
|
|
NM_001159699.2(FHL1):c.549+3A>G
|
|
|
NM_001159699.2(FHL1):c.549+4T>C
|
|
|
NM_001159699.2(FHL1):c.549+4T>G
|
|
|
NM_001159699.2(FHL1):c.54G>A (p.Ala18=)
|
|
|
NM_001159699.2(FHL1):c.550-13C>G
|
rs372709825
|
|
NM_001159699.2(FHL1):c.550-13C>T
|
|
|
NM_001159699.2(FHL1):c.550-15C>T
|
rs764137409
|
|
NM_001159699.2(FHL1):c.550-16A>G
|
|
|
NM_001159699.2(FHL1):c.550-18C>G
|
|
|
NM_001159699.2(FHL1):c.552C>T (p.Ala184=)
|
|
|
NM_001159699.2(FHL1):c.558A>G (p.Thr186=)
|
rs2148378187
|
|
NM_001159699.2(FHL1):c.55G>T (p.Glu19Ter)
|
rs2148371451
|
|
NM_001159699.2(FHL1):c.562G>A (p.Gly188Arg)
|
rs2148378198
|
|
NM_001159699.2(FHL1):c.572C>G (p.Thr191Ser)
|
|
|
NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter)
|
rs1603272191
|
|
NM_001159699.2(FHL1):c.585G>A (p.Gln195=)
|
rs2148378283
|
|
NM_001159699.2(FHL1):c.588C>A (p.Pro196=)
|
|
|
NM_001159699.2(FHL1):c.590G>A (p.Trp197Ter)
|
rs1191211949
|
|
NM_001159699.2(FHL1):c.597C>G (p.Ala199=)
|
|
|
NM_001159699.2(FHL1):c.600T>C (p.Asp200=)
|
|
|
NM_001159699.2(FHL1):c.613_614del (p.Val205fs)
|
rs1569530588
|
|
NM_001159699.2(FHL1):c.617C>A (p.Thr206Asn)
|
|
|
NM_001159699.2(FHL1):c.618del (p.Cys207fs)
|
rs2148378462
|
|
NM_001159699.2(FHL1):c.621C>G (p.Cys207Trp)
|
rs2148378483
|
|
NM_001159699.2(FHL1):c.623C>G (p.Ser208Cys)
|
rs1406462908
|
|
NM_001159699.2(FHL1):c.635C>G (p.Ala212Gly)
|
rs2073912710
|
|
NM_001159699.2(FHL1):c.63T>C (p.Phe21=)
|
rs2073841797
|
|
NM_001159699.2(FHL1):c.63T>G (p.Phe21Leu)
|
rs2073841797
|
|
NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter)
|
rs1603272223
|
|
NM_001159699.2(FHL1):c.644_650dup (p.Ala218fs)
|
rs2073913069
|
|
NM_001159699.2(FHL1):c.653C>T (p.Ala218Val)
|
|
|
NM_001159699.2(FHL1):c.661dup (p.Asp221fs)
|
rs1556639379
|
|
NM_001159699.2(FHL1):c.665A>G (p.Gln222Arg)
|
rs915687031
|
|
NM_001159699.2(FHL1):c.669T>C (p.Tyr223=)
|
rs1603272258
|
|
NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs)
|
rs1603272263
|
|
NM_001159699.2(FHL1):c.671dup (p.Tyr224Ter)
|
|
|
NM_001159699.2(FHL1):c.672C>G (p.Tyr224Ter)
|
|
|
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg)
|
rs122459149
|
|
NM_001159699.2(FHL1):c.68G>T (p.Cys23Phe)
|
rs2073842039
|
|
NM_001159699.2(FHL1):c.693C>G (p.Asn231Lys)
|
rs2073914454
|
|
NM_001159699.2(FHL1):c.701C>G (p.Ala234Gly)
|
|
|
NM_001159699.2(FHL1):c.703AAG[3] (p.Lys236dup)
|
rs1569530609
|
|
NM_001159699.2(FHL1):c.708_736+22del
|
rs2148378774
|
|
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)
|
rs122458141
|
|
NM_001159699.2(FHL1):c.725A>G (p.Asn242Ser)
|
rs2073916017
|
|
NM_001159699.2(FHL1):c.726C>T (p.Asn242=)
|
rs781537817
|
|
NM_001159699.2(FHL1):c.729C>A (p.Pro243=)
|
rs1060504733
|
|
NM_001159699.2(FHL1):c.72C>G (p.His24Gln)
|
|
|
NM_001159699.2(FHL1):c.736+1G>A
|
rs786200914
|
|
NM_001159699.2(FHL1):c.736+1G>C
|
rs786200914
|
|
NM_001159699.2(FHL1):c.736+2T>G
|
rs2073916521
|
|
NM_001159699.2(FHL1):c.736+3_736+4del
|
|
|
NM_001159699.2(FHL1):c.736+5G>T
|
|
|
NM_001159699.2(FHL1):c.736+9A>T
|
|
|
NM_001159699.2(FHL1):c.737-10T>G
|
|
|
NM_001159699.2(FHL1):c.737-11T>C
|
|
|
NM_001159699.2(FHL1):c.737-13T>G
|
|
|
NM_001159699.2(FHL1):c.737-13_737-9del
|
rs374867802
|
|
NM_001159699.2(FHL1):c.737-14_737-13insCTTT
|
rs767661713
|
|
NM_001159699.2(FHL1):c.737-16T>C
|
|
|
NM_001159699.2(FHL1):c.737-18_737-15del
|
rs2148383206
|
|
NM_001159699.2(FHL1):c.737-22_737-19del
|
|
|
NM_001159699.2(FHL1):c.737-3del
|
rs368428875
|
|
NM_001159699.2(FHL1):c.737-3dup
|
|
|
NM_001159699.2(FHL1):c.737-6C>T
|
|
|
NM_001159699.2(FHL1):c.737-7C>T
|
rs774150299
|
|
NM_001159699.2(FHL1):c.737-8C>A
|
rs2076705
|
|
NM_001159699.2(FHL1):c.737-9_737-8delinsCT
|
rs1603273550
|
|
NM_001159699.2(FHL1):c.737-9del
|
rs374867802
|
|
NM_001159699.2(FHL1):c.737-9dup
|
rs374867802
|
|
NM_001159699.2(FHL1):c.738G>T (p.Gly246=)
|
|
|
NM_001159699.2(FHL1):c.740T>C (p.Phe247Ser)
|
|
|
NM_001159699.2(FHL1):c.750C>T (p.Gly250=)
|
|
|
NM_001159699.2(FHL1):c.753C>T (p.Ser251=)
|
rs2148383466
|
|
NM_001159699.2(FHL1):c.757G>A (p.Val253Met)
|
|
|
NM_001159699.2(FHL1):c.75C>T (p.Tyr25=)
|
rs2148371522
|
|
NM_001159699.2(FHL1):c.76T>C (p.Cys26Arg)
|
rs2148371530
|
|
NM_001159699.2(FHL1):c.776A>G (p.Gln259Arg)
|
rs1389916579
|
|
NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr)
|
rs2148371537
|
|
NM_001159699.2(FHL1):c.780C>A (p.Ser260=)
|
|
|
NM_001159699.2(FHL1):c.780C>T (p.Ser260=)
|
|
|
NM_001159699.2(FHL1):c.784C>T (p.His262Tyr)
|
rs1569530811
|
|
NM_001159699.2(FHL1):c.786C>A (p.His262Gln)
|
rs141231353
|
|
NM_001159699.2(FHL1):c.792C>G (p.Tyr264Ter)
|
|
|
NM_001159699.2(FHL1):c.794G>A (p.Cys265Tyr)
|
rs56391414
|
|
NM_001159699.2(FHL1):c.794G>C (p.Cys265Ser)
|
rs56391414
|
|
NM_001159699.2(FHL1):c.801delinsAA (p.His267fs)
|
|
|
NM_001159699.2(FHL1):c.802T>C (p.Cys268Arg)
|
|
|
NM_001159699.2(FHL1):c.803G>A (p.Cys268Tyr)
|
rs1569530823
|
|
NM_001159699.2(FHL1):c.810dup (p.Cys271fs)
|
rs2073964376
|
|
NM_001159699.2(FHL1):c.811T>C (p.Cys271Arg)
|
rs1569530825
|
|
NM_001159699.2(FHL1):c.812G>A (p.Cys271Tyr)
|
rs869025431
|
|
NM_001159699.2(FHL1):c.812dup (p.Cys271fs)
|
|
|
NM_001159699.2(FHL1):c.814T>A (p.Ser272Thr)
|
rs2073964922
|
|
NM_001159699.2(FHL1):c.816C>A (p.Ser272=)
|
rs758552293
|
|
NM_001159699.2(FHL1):c.817G>C (p.Val273Leu)
|
rs190006104
|
|
NM_001159699.2(FHL1):c.819G>C (p.Val273=)
|
rs2148383774
|
|
NM_001159699.2(FHL1):c.823C>G (p.Leu275Val)
|
rs2148383784
|
|
NM_001159699.2(FHL1):c.823C>T (p.Leu275=)
|
|
|
NM_001159699.2(FHL1):c.825G>C (p.Leu275=)
|
|
|
NM_001159699.2(FHL1):c.826G>A (p.Ala276Thr)
|
|
|
NM_001159699.2(FHL1):c.830A>G (p.Asn277Ser)
|
rs2148383804
|
|
NM_001159699.2(FHL1):c.831del (p.Asn277fs)
|
|
|
NM_001159699.2(FHL1):c.834dup (p.Arg279fs)
|
|
|
NM_001159699.2(FHL1):c.835C>T (p.Arg279Cys)
|
|
|
NM_001159699.2(FHL1):c.837C>A (p.Arg279=)
|
|
|
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs)
|
rs1603273685
|
|
NM_001159699.2(FHL1):c.847C>A (p.His283Asn)
|
rs2148383871
|
|
NM_001159699.2(FHL1):c.852G>A (p.Gln284=)
|
rs774024150
|
|
NM_001159699.2(FHL1):c.852G>C (p.Gln284His)
|
rs774024150
|
|
NM_001159699.2(FHL1):c.853G>T (p.Glu285Ter)
|
|
|
NM_001159699.2(FHL1):c.855G>A (p.Glu285=)
|
rs1556639756
|
|
NM_001159699.2(FHL1):c.856C>T (p.Gln286Ter)
|
|
|
NM_001159699.2(FHL1):c.857_870dup (p.Asp291fs)
|
|
|
NM_001159699.2(FHL1):c.863_864dup (p.Cys289fs)
|
rs2148383945
|
|
NM_001159699.2(FHL1):c.865T>C (p.Cys289Arg)
|
|
|
NM_001159699.2(FHL1):c.865T>G (p.Cys289Gly)
|
rs2073967346
|
|
NM_001159699.2(FHL1):c.866G>C (p.Cys289Ser)
|
rs1603273709
|
|
NM_001159699.2(FHL1):c.866G>T (p.Cys289Phe)
|
rs1603273709
|
|
NM_001159699.2(FHL1):c.868C>T (p.Pro290Ser)
|
rs1039991254
|
|
NM_001159699.2(FHL1):c.870C>A (p.Pro290=)
|
|
|
NM_001159699.2(FHL1):c.874T>A (p.Cys292Ser)
|
rs1556639771
|
|
NM_001159699.2(FHL1):c.875G>A (p.Cys292Tyr)
|
rs2148384040
|
|
NM_001159699.2(FHL1):c.876T>C (p.Cys292=)
|
|
|
NM_001159699.2(FHL1):c.876_877del (p.Ala293fs)
|
|
|
NM_001159699.2(FHL1):c.87C>T (p.Pro29=)
|
|
|
NM_001159699.2(FHL1):c.888G>A (p.Leu296=)
|
|
|
NM_001159699.2(FHL1):c.891A>C (p.Ter297Tyr)
|
rs2073968496
|
|
NM_001159699.2(FHL1):c.91C>G (p.Gln31Glu)
|
|
|
NM_001159702.3(FHL1):c.718C>T (p.Pro240Ser)
|
rs1603272887
|
|
NM_001159702.3(FHL1):c.838G>A (p.Val280Met)
|
rs267606811
|
|
NM_001449.4(FHL1):c.157-?_*1334+?dup
|
|
|