ClinVar Miner

List of variants studied for X-linked myopathy with postural muscle atrophy

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 381
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HGVS dbSNP gnomAD frequency
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_001159702.3(FHL1):c.-101+3A>G rs895540444 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
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His) rs775496863 0.00001
GRCh38/hg38 Xq26.3(chrX:136209840-136213009)x0
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.865dup (p.Cys289fs) rs1603273697
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.889T>G (p.Ter297Glu) rs122459148
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

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