ClinVar Miner

List of variants studied for X-linked Emery-Dreifuss muscular dystrophy by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 824
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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_000117.3(EMD):c.465C>T (p.Tyr155=) rs143447675 0.00404
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_000117.3(EMD):c.83-13C>G rs201140396 0.00292
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
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_000117.3(EMD):c.466G>A (p.Gly156Ser) rs144594695 0.00078
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
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_000117.3(EMD):c.646G>A (p.Gly216Arg) rs147920229 0.00026
NM_001159702.3(FHL1):c.760C>T (p.Arg254Cys) rs367592190 0.00023
NM_001159699.2(FHL1):c.737-9T>C rs914754937 0.00022
NM_000117.3(EMD):c.639T>C (p.Pro213=) rs782196388 0.00021
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00020
NM_000117.3(EMD):c.445G>C (p.Asp149His) rs2070818 0.00019
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232 0.00018
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_000117.3(EMD):c.432A>G (p.Glu144=) rs377125466 0.00014
NM_000117.3(EMD):c.537G>A (p.Leu179=) rs368661339 0.00014
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) rs374981936 0.00011
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_000117.3(EMD):c.188-18C>G rs376439797 0.00009
NM_000117.3(EMD):c.450-12C>T rs1185461600 0.00009
NM_000117.3(EMD):c.470G>A (p.Arg157Gln) rs148515772 0.00009
NM_001159699.2(FHL1):c.278A>G (p.Asn93Ser) rs761300463 0.00009
NM_000117.3(EMD):c.12C>T (p.Tyr4=) rs782011714 0.00007
NM_000117.3(EMD):c.400-14A>G rs781916367 0.00007
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_001159699.2(FHL1):c.736+8A>G rs376754350 0.00007
NM_000117.3(EMD):c.188-12C>T rs371016049 0.00006
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu) rs781053469 0.00006
NM_000117.3(EMD):c.108G>A (p.Lys36=) rs1057521050 0.00005
NM_000117.3(EMD):c.166G>A (p.Ala56Thr) rs1057520579 0.00005
NM_000117.3(EMD):c.215A>T (p.Asp72Val) rs794729021 0.00005
NM_000117.3(EMD):c.355C>A (p.Gln119Lys) rs398123157 0.00005
NM_000117.3(EMD):c.525C>T (p.Ser175=) rs782367505 0.00005
NM_000117.3(EMD):c.746A>G (p.Glu249Gly) rs781947413 0.00005
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_000117.3(EMD):c.171C>T (p.Ser57=) rs900267221 0.00004
NM_000117.3(EMD):c.183C>T (p.Phe61=) rs782643028 0.00004
NM_000117.3(EMD):c.30C>G (p.Thr10=) rs145781828 0.00004
NM_000117.3(EMD):c.459C>T (p.Pro153=) rs782147479 0.00004
NM_000117.3(EMD):c.581C>T (p.Ser194Leu) rs782697057 0.00004
NM_000117.3(EMD):c.585A>G (p.Ser195=) rs140970151 0.00004
NM_000117.3(EMD):c.608G>A (p.Arg203His) rs144842093 0.00004
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_000117.3(EMD):c.110A>T (p.Lys37Met) rs1085307681 0.00003
NM_000117.3(EMD):c.173C>T (p.Ser58Phe) rs781797234 0.00003
NM_000117.3(EMD):c.234G>A (p.Lys78=) rs781889152 0.00003
NM_000117.3(EMD):c.243C>T (p.Asp81=) rs150757295 0.00003
NM_000117.3(EMD):c.267C>G (p.Gly89=) rs1201464258 0.00003
NM_000117.3(EMD):c.361G>A (p.Val121Met) rs2067880161 0.00003
NM_000117.3(EMD):c.390C>T (p.Phe130=) rs781952981 0.00003
NM_000117.3(EMD):c.399+10C>T rs375654959 0.00003
NM_000117.3(EMD):c.39C>A (p.Thr13=) rs1352660201 0.00003
NM_000117.3(EMD):c.400-20G>A rs782354948 0.00003
NM_000117.3(EMD):c.412G>A (p.Asp138Asn) rs782737897 0.00003
NM_000117.3(EMD):c.449+5G>A rs370840449 0.00003
NM_000117.3(EMD):c.469C>T (p.Arg157Trp) rs782431693 0.00003
NM_000117.3(EMD):c.502C>T (p.Arg168Cys) rs886044839 0.00003
NM_000117.3(EMD):c.671C>T (p.Pro224Leu) rs782559230 0.00003
NM_000117.3(EMD):c.672G>A (p.Pro224=) rs1267603257 0.00003
NM_000117.3(EMD):c.677G>C (p.Trp226Ser) rs141732118 0.00003
NM_000117.3(EMD):c.714C>T (p.Val238=) rs782290874 0.00003
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_000117.3(EMD):c.137G>A (p.Arg46Gln) rs941514119 0.00002
NM_000117.3(EMD):c.148C>T (p.Pro50Ser) rs781936763 0.00002
NM_000117.3(EMD):c.188-13C>T rs782141516 0.00002
NM_000117.3(EMD):c.241G>A (p.Asp81Asn) rs141138209 0.00002
NM_000117.3(EMD):c.276C>T (p.Asp92=) rs782680849 0.00002
NM_000117.3(EMD):c.333C>T (p.Ala111=) rs782216150 0.00002
NM_000117.3(EMD):c.353G>A (p.Arg118His) rs782201984 0.00002
NM_000117.3(EMD):c.422C>T (p.Ser141Phe) rs1262954618 0.00002
NM_000117.3(EMD):c.449+10G>C rs782467790 0.00002
NM_000117.3(EMD):c.572T>C (p.Met191Thr) rs782244432 0.00002
NM_000117.3(EMD):c.610C>T (p.Arg204Cys) rs782299893 0.00002
NM_000117.3(EMD):c.611G>A (p.Arg204His) rs782642152 0.00002
NM_000117.3(EMD):c.618C>T (p.Ile206=) rs782496874 0.00002
NM_000117.3(EMD):c.662G>T (p.Arg221Leu) rs782057378 0.00002
NM_000117.3(EMD):c.704T>C (p.Phe235Ser) rs782627156 0.00002
NM_000117.3(EMD):c.717C>T (p.Leu239=) rs782369799 0.00002
NM_000117.3(EMD):c.82+17G>A rs1198190299 0.00002
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_000117.3(EMD):c.103G>A (p.Glu35Lys) rs782222974 0.00001
NM_000117.3(EMD):c.117C>T (p.Phe39=) rs782334564 0.00001
NM_000117.3(EMD):c.129C>T (p.Thr43=) rs781938390 0.00001
NM_000117.3(EMD):c.132G>A (p.Gln44=) rs1322660028 0.00001
NM_000117.3(EMD):c.149C>A (p.Pro50His) rs782021157 0.00001
NM_000117.3(EMD):c.153C>A (p.Pro51=) rs782051850 0.00001
NM_000117.3(EMD):c.15A>G (p.Ala5=) rs1365728244 0.00001
NM_000117.3(EMD):c.168C>T (p.Ala56=) rs782087009 0.00001
NM_000117.3(EMD):c.188-16C>T rs1269992805 0.00001
NM_000117.3(EMD):c.198G>T (p.Ser66=) rs1557182359 0.00001
NM_000117.3(EMD):c.240G>A (p.Glu80=) rs782641259 0.00001
NM_000117.3(EMD):c.242A>G (p.Asp81Gly) rs1557182377 0.00001
NM_000117.3(EMD):c.252C>T (p.Leu84=) rs782612830 0.00001
NM_000117.3(EMD):c.266-19C>T rs1057522166 0.00001
NM_000117.3(EMD):c.295T>C (p.Tyr99His) rs781835089 0.00001
NM_000117.3(EMD):c.297C>T (p.Tyr99=) rs1010675678 0.00001
NM_000117.3(EMD):c.306C>T (p.Thr102=) rs782579799 0.00001
NM_000117.3(EMD):c.315T>C (p.Tyr105=) rs1342409944 0.00001
NM_000117.3(EMD):c.330T>G (p.Ser110=) rs782666989 0.00001
NM_000117.3(EMD):c.359C>T (p.Ser120Leu) rs782038352 0.00001
NM_000117.3(EMD):c.400-4G>T rs782029952 0.00001
NM_000117.3(EMD):c.400-6C>T rs782396776 0.00001
NM_000117.3(EMD):c.400G>A (p.Val134Met) rs201250825 0.00001
NM_000117.3(EMD):c.403C>T (p.His135Tyr) rs782110153 0.00001
NM_000117.3(EMD):c.406G>C (p.Asp136His) rs869025401 0.00001
NM_000117.3(EMD):c.423T>G (p.Ser141=) rs1209782193 0.00001
NM_000117.3(EMD):c.436G>A (p.Glu146Lys) rs782732591 0.00001
NM_000117.3(EMD):c.444G>A (p.Lys148=) rs781889750 0.00001
NM_000117.3(EMD):c.449+12G>A rs1557182578 0.00001
NM_000117.3(EMD):c.450-13T>C rs375480222 0.00001
NM_000117.3(EMD):c.450-19C>T rs1557182589 0.00001
NM_000117.3(EMD):c.489C>T (p.Ser163=) rs782558454 0.00001
NM_000117.3(EMD):c.492C>T (p.Ile164=) rs1286873712 0.00001
NM_000117.3(EMD):c.494C>T (p.Thr165Met) rs397515751 0.00001
NM_000117.3(EMD):c.542A>G (p.Tyr181Cys) rs1569552104 0.00001
NM_000117.3(EMD):c.557C>T (p.Ser186Phe) rs372718547 0.00001
NM_000117.3(EMD):c.575C>T (p.Ser192Phe) rs782393829 0.00001
NM_000117.3(EMD):c.57C>T (p.Tyr19=) rs371661299 0.00001
NM_000117.3(EMD):c.582A>C (p.Ser194=) rs781933286 0.00001
NM_000117.3(EMD):c.593C>T (p.Ser198Phe) rs1569552105 0.00001
NM_000117.3(EMD):c.603C>T (p.Leu201=) rs1557182663 0.00001
NM_000117.3(EMD):c.619C>T (p.Arg207Trp) rs2067885563 0.00001
NM_000117.3(EMD):c.620G>A (p.Arg207Gln) rs782352489 0.00001
NM_000117.3(EMD):c.631C>T (p.Arg211Cys) rs782193940 0.00001
NM_000117.3(EMD):c.702C>T (p.Val234=) rs1057521076 0.00001
NM_000117.3(EMD):c.711C>T (p.Ile237=) rs727503037 0.00001
NM_000117.3(EMD):c.728A>C (p.Tyr243Ser) rs782208090 0.00001
NM_000117.3(EMD):c.735C>T (p.Phe245=) rs782312045 0.00001
NM_000117.3(EMD):c.82+9C>T rs1422586674 0.00001
NM_000117.3(EMD):c.83-18C>T rs782577051 0.00001
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
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_000023.10:g.(?_152014869)_(155171615_?)del
NC_000023.10:g.(?_152990712)_(153650075_?)del
NC_000023.10:g.(?_152990712)_(153650075_?)dup
NC_000023.10:g.(?_153128108)_(153609567_?)dup
NC_000023.10:g.(?_153357622)_(153664237_?)dup
NC_000023.10:g.(?_153577211)_(153640295_?)dup
NC_000023.10:g.(?_153577217)_(153609557_?)dup
NC_000023.10:g.(?_153587342)_(153609567_?)dup
NC_000023.10:g.(?_153607393)_(153608624_?)del
NC_000023.10:g.(?_153607825)_(153609577_?)del
NC_000023.10:g.(?_153607835)_(153609567_?)del
NC_000023.10:g.(?_153607835)_(153609567_?)dup
NC_000023.10:g.(?_153609093)_(153609182_?)del
NC_000023.11:g.(?_136209233)_(136211369_?)del
NM_000117.2(EMD):c.-248_*326dup1339
NM_000117.3(EMD):c.-161CAACGATTCGGCTGTGACGCGA[1] rs1463296648
NM_000117.3(EMD):c.102C>G (p.Tyr34Ter) rs2148128122
NM_000117.3(EMD):c.102C>T (p.Tyr34=)
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del) rs782507902
NM_000117.3(EMD):c.105G>A (p.Glu35=)
NM_000117.3(EMD):c.110A>G (p.Lys37Arg)
NM_000117.3(EMD):c.114C>A (p.Ile38=) rs2148128131
NM_000117.3(EMD):c.114C>T (p.Ile38=) rs2148128131
NM_000117.3(EMD):c.115_117del (p.Phe39del) rs781959238
NM_000117.3(EMD):c.118G>C (p.Glu40Gln) rs2067875036
NM_000117.3(EMD):c.121T>G (p.Tyr41Asp)
NM_000117.3(EMD):c.123C>A (p.Tyr41Ter) rs1060502612
NM_000117.3(EMD):c.12C>G (p.Tyr4Ter) rs782011714
NM_000117.3(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.3(EMD):c.135dup (p.Arg46fs) rs1557182301
NM_000117.3(EMD):c.136C>T (p.Arg46Trp) rs2067875291
NM_000117.3(EMD):c.139C>T (p.Arg47Trp)
NM_000117.3(EMD):c.143dup (p.Ser49fs)
NM_000117.3(EMD):c.144C>G (p.Leu48=) rs200537612
NM_000117.3(EMD):c.152C>G (p.Pro51Arg)
NM_000117.3(EMD):c.153C>G (p.Pro51=) rs782051850
NM_000117.3(EMD):c.153C>T (p.Pro51=) rs782051850
NM_000117.3(EMD):c.153del (p.Ser52fs) rs876661345
NM_000117.3(EMD):c.153dup (p.Ser52fs) rs876661345
NM_000117.3(EMD):c.162C>T (p.Ser54=)
NM_000117.3(EMD):c.168CTC[1] (p.Ser58del)
NM_000117.3(EMD):c.176A>G (p.Tyr59Cys) rs2148128196
NM_000117.3(EMD):c.177T>C (p.Tyr59=)
NM_000117.3(EMD):c.180C>G (p.Ser60Arg) rs2067875771
NM_000117.3(EMD):c.180C>T (p.Ser60=)
NM_000117.3(EMD):c.187+11C>A
NM_000117.3(EMD):c.187+12G>C
NM_000117.3(EMD):c.187+13C>T
NM_000117.3(EMD):c.187+16G>T
NM_000117.3(EMD):c.187+18G>A
NM_000117.3(EMD):c.187+1G>A rs794729010
NM_000117.3(EMD):c.187+1G>T rs794729010
NM_000117.3(EMD):c.187+20G>A
NM_000117.3(EMD):c.187+2T>G
NM_000117.3(EMD):c.187+4A>T rs2148128205
NM_000117.3(EMD):c.187+5G>C
NM_000117.3(EMD):c.187+7G>A
NM_000117.3(EMD):c.187+7G>T
NM_000117.3(EMD):c.188-12C>G
NM_000117.3(EMD):c.188-14T>C
NM_000117.3(EMD):c.188-15C>G
NM_000117.3(EMD):c.188-18C>T
NM_000117.3(EMD):c.188-20del
NM_000117.3(EMD):c.188-4C>T rs1557182352
NM_000117.3(EMD):c.188-6A>G rs2148128297
NM_000117.3(EMD):c.188-6A>T rs2148128297
NM_000117.3(EMD):c.188-7A>G rs2148128296
NM_000117.3(EMD):c.188-8C>G
NM_000117.3(EMD):c.188A>G (p.Asp63Gly) rs1557182355
NM_000117.3(EMD):c.189C>T (p.Asp63=) rs2148128303
NM_000117.3(EMD):c.192G>C (p.Leu64Phe) rs782066603
NM_000117.3(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.3(EMD):c.206G>A (p.Gly69Glu)
NM_000117.3(EMD):c.207G>A (p.Gly69=) rs1557182361
NM_000117.3(EMD):c.208G>T (p.Asp70Tyr) rs2148128314
NM_000117.3(EMD):c.20T>A (p.Leu7His) rs794729016
NM_000117.3(EMD):c.217_218dup (p.Met73fs) rs1557182364
NM_000117.3(EMD):c.218T>C (p.Met73Thr) rs2148128327
NM_000117.3(EMD):c.229C>T (p.Pro77Ser) rs1557182365
NM_000117.3(EMD):c.231C>G (p.Pro77=)
NM_000117.3(EMD):c.231C>T (p.Pro77=) rs2148128330
NM_000117.3(EMD):c.235A>G (p.Lys79Glu)
NM_000117.3(EMD):c.236A>G (p.Lys79Arg)
NM_000117.3(EMD):c.237A>C (p.Lys79Asn)
NM_000117.3(EMD):c.23C>G (p.Ser8Trp) rs869025400
NM_000117.3(EMD):c.23C>T (p.Ser8Leu) rs869025400
NM_000117.3(EMD):c.246T>A (p.Ala82=) rs2148128347
NM_000117.3(EMD):c.249A>G (p.Leu83=)
NM_000117.3(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.3(EMD):c.255C>T (p.Tyr85=) rs1303189631
NM_000117.3(EMD):c.256C>T (p.Gln86Ter)
NM_000117.3(EMD):c.262A>T (p.Lys88Ter)
NM_000117.3(EMD):c.265+10G>A
NM_000117.3(EMD):c.265+11G>T
NM_000117.3(EMD):c.265+12G>T
NM_000117.3(EMD):c.265+17G>A
NM_000117.3(EMD):c.265+7_265+8insTTTACTCTACCAGAGCA
NM_000117.3(EMD):c.265+8A>G
NM_000117.3(EMD):c.266-10C>T rs2067879183
NM_000117.3(EMD):c.266-10_266-9del
NM_000117.3(EMD):c.266-13C>A
NM_000117.3(EMD):c.266-13C>T
NM_000117.3(EMD):c.266-19del
NM_000117.3(EMD):c.266-3A>G rs2148128459
NM_000117.3(EMD):c.266-9C>G
NM_000117.3(EMD):c.266-9C>T rs782152177
NM_000117.3(EMD):c.266-9dup
NM_000117.3(EMD):c.270C>T (p.Tyr90=) rs2148128465
NM_000117.3(EMD):c.271A>G (p.Asn91Asp) rs2067879275
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
NM_000117.3(EMD):c.285T>C (p.Tyr95=) rs2148128483
NM_000117.3(EMD):c.294C>T (p.Ser98=) rs2148128485
NM_000117.3(EMD):c.2T>G (p.Met1Arg) rs2148127941
NM_000117.3(EMD):c.303C>T (p.Thr101=)
NM_000117.3(EMD):c.307A>G (p.Arg103Gly)
NM_000117.3(EMD):c.309G>A (p.Arg103=) rs2148128497
NM_000117.3(EMD):c.30C>T (p.Thr10=)
NM_000117.3(EMD):c.311C>A (p.Thr104Asn) rs1245332627
NM_000117.3(EMD):c.317G>A (p.Gly106Glu) rs1312994862
NM_000117.3(EMD):c.31G>A (p.Glu11Lys) rs2148127965
NM_000117.3(EMD):c.321G>A (p.Glu107=) rs1452250882
NM_000117.3(EMD):c.321G>T (p.Glu107Asp)
NM_000117.3(EMD):c.327G>A (p.Glu109=)
NM_000117.3(EMD):c.32A>G (p.Glu11Gly)
NM_000117.3(EMD):c.330T>A (p.Ser110=) rs782666989
NM_000117.3(EMD):c.330T>C (p.Ser110=) rs782666989
NM_000117.3(EMD):c.334G>A (p.Gly112Ser)
NM_000117.3(EMD):c.339G>A (p.Pro113=) rs2148128524
NM_000117.3(EMD):c.33G>A (p.Glu11=) rs782121776
NM_000117.3(EMD):c.33G>C (p.Glu11Asp) rs782121776
NM_000117.3(EMD):c.343A>T (p.Arg115Trp) rs2067879939
NM_000117.3(EMD):c.350T>G (p.Val117Gly) rs781924971
NM_000117.3(EMD):c.351C>T (p.Val117=) rs2148128529
NM_000117.3(EMD):c.356A>G (p.Gln119Arg)
NM_000117.3(EMD):c.369A>G (p.Ser123=) rs2148128541
NM_000117.3(EMD):c.377A>G (p.Asp126Gly)
NM_000117.3(EMD):c.37A>C (p.Thr13Pro) rs2148127968
NM_000117.3(EMD):c.384C>T (p.Asp128=) rs1603365838
NM_000117.3(EMD):c.391_397dup (p.Gln133fs)
NM_000117.3(EMD):c.397C>T (p.Gln133Ter)
NM_000117.3(EMD):c.399+16G>A
NM_000117.3(EMD):c.399+18C>A rs182540760
NM_000117.3(EMD):c.399+19G>A
NM_000117.3(EMD):c.399+19G>T
NM_000117.3(EMD):c.399+1G>T rs2148128554
NM_000117.3(EMD):c.399+2T>C
NM_000117.3(EMD):c.399G>C (p.Gln133His)
NM_000117.3(EMD):c.39C>T (p.Thr13=) rs1352660201
NM_000117.3(EMD):c.3G>A (p.Met1Ile) rs886044771
NM_000117.3(EMD):c.400-11C>T
NM_000117.3(EMD):c.400-12T>A
NM_000117.3(EMD):c.400-13C>T
NM_000117.3(EMD):c.400-13CT[2] rs1427015192
NM_000117.3(EMD):c.400-15G>A
NM_000117.3(EMD):c.400-15G>C
NM_000117.3(EMD):c.400-17C>G
NM_000117.3(EMD):c.400-3C>T
NM_000117.3(EMD):c.402G>C (p.Val134=) rs2148128710
NM_000117.3(EMD):c.406G>A (p.Asp136Asn) rs869025401
NM_000117.3(EMD):c.408T>C (p.Asp136=) rs1569552096
NM_000117.3(EMD):c.411C>G (p.Asp137Glu) rs2148128718
NM_000117.3(EMD):c.411C>T (p.Asp137=) rs2148128718
NM_000117.3(EMD):c.413A>G (p.Asp138Gly) rs1212579575
NM_000117.3(EMD):c.41C>A (p.Thr14Asn)
NM_000117.3(EMD):c.421TCT[2] (p.Ser143del) rs1557182551
NM_000117.3(EMD):c.425C>T (p.Ser142Phe) rs2067882775
NM_000117.3(EMD):c.430G>T (p.Glu144Ter) rs1557182560
NM_000117.3(EMD):c.433G>A (p.Glu145Lys) rs2067882908
NM_000117.3(EMD):c.437A>G (p.Glu146Gly) rs2148128747
NM_000117.3(EMD):c.438G>A (p.Glu146=)
NM_000117.3(EMD):c.448A>G (p.Arg150Gly)
NM_000117.3(EMD):c.449+10G>T rs782467790
NM_000117.3(EMD):c.449+11G>C
NM_000117.3(EMD):c.449+17C>G
NM_000117.3(EMD):c.449+18C>A
NM_000117.3(EMD):c.449+20A>T
NM_000117.3(EMD):c.449+4C>T rs886044810
NM_000117.3(EMD):c.449+7A>G
NM_000117.3(EMD):c.449G>C (p.Arg150Thr) rs1557182571
NM_000117.3(EMD):c.450-11T>C
NM_000117.3(EMD):c.450-13T>G rs375480222
NM_000117.3(EMD):c.450-14C>G
NM_000117.3(EMD):c.450-17C>G
NM_000117.3(EMD):c.450-17C>T
NM_000117.3(EMD):c.450-2A>G rs398123158
NM_000117.3(EMD):c.450-6C>T
NM_000117.3(EMD):c.450-8T>C
NM_000117.3(EMD):c.456C>T (p.Arg152=) rs2148128787
NM_000117.3(EMD):c.457C>T (p.Pro153Ser)
NM_000117.3(EMD):c.459C>G (p.Pro153=) rs782147479
NM_000117.3(EMD):c.460A>G (p.Met154Val) rs782806462
NM_000117.3(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.3(EMD):c.46C>T (p.Leu16=) rs2148127980
NM_000117.3(EMD):c.475_476del (p.Ser159fs) rs2067883871
NM_000117.3(EMD):c.483C>G (p.Tyr161Ter) rs2148128811
NM_000117.3(EMD):c.484C>T (p.Gln162Ter) rs1557182611
NM_000117.3(EMD):c.487A>G (p.Ser163Gly) rs1557182614
NM_000117.3(EMD):c.48G>T (p.Leu16=)
NM_000117.3(EMD):c.490A>C (p.Ile164Leu) rs2067884058
NM_000117.3(EMD):c.490A>G (p.Ile164Val)
NM_000117.3(EMD):c.495G>T (p.Thr165=) rs151074632
NM_000117.3(EMD):c.497A>G (p.His166Arg) rs1016943599
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys) rs2067884177
NM_000117.3(EMD):c.503G>A (p.Arg168His) rs898460509
NM_000117.3(EMD):c.503G>T (p.Arg168Leu)
NM_000117.3(EMD):c.510T>C (p.Val170=) rs2148128835
NM_000117.3(EMD):c.512C>A (p.Ser171Ter) rs886044901
NM_000117.3(EMD):c.516C>T (p.Ala172=)
NM_000117.3(EMD):c.520A>C (p.Arg174=)
NM_000117.3(EMD):c.524G>A (p.Ser175Asn)
NM_000117.3(EMD):c.525C>G (p.Ser175Arg) rs782367505
NM_000117.3(EMD):c.529C>T (p.Leu177=)
NM_000117.3(EMD):c.52C>A (p.Arg18=) rs2148127991
NM_000117.3(EMD):c.533A>G (p.Asp178Gly) rs2067884448
NM_000117.3(EMD):c.534C>A (p.Asp178Glu)
NM_000117.3(EMD):c.534C>T (p.Asp178=) rs1430510939
NM_000117.3(EMD):c.535C>T (p.Leu179=) rs1260147167
NM_000117.3(EMD):c.543T>C (p.Tyr181=)
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer) rs794729019
NM_000117.3(EMD):c.546T>A (p.Tyr182Ter)
NM_000117.3(EMD):c.547C>T (p.Pro183Ser) rs104894806
NM_000117.3(EMD):c.548C>A (p.Pro183His) rs104894805
NM_000117.3(EMD):c.548C>T (p.Pro183Leu) rs104894805
NM_000117.3(EMD):c.549T>C (p.Pro183=) rs886044848
NM_000117.3(EMD):c.550_552del (p.Thr184del)
NM_000117.3(EMD):c.551C>T (p.Thr184Ile)
NM_000117.3(EMD):c.555C>T (p.Ser185=)
NM_000117.3(EMD):c.558C>T (p.Ser186=) rs2148128859
NM_000117.3(EMD):c.561C>T (p.Ser187=)
NM_000117.3(EMD):c.561_567dup (p.Phe190fs) rs2148128862
NM_000117.3(EMD):c.570del (p.Phe190fs) rs2148128871
NM_000117.3(EMD):c.570dup (p.Met191fs) rs2148128871
NM_000117.3(EMD):c.571A>G (p.Met191Val) rs397515752
NM_000117.3(EMD):c.576C>G (p.Ser192=)
NM_000117.3(EMD):c.576CTC[1] (p.Ser199del) rs2067884874
NM_000117.3(EMD):c.578C>T (p.Ser193Phe) rs1220835396
NM_000117.3(EMD):c.579C>A (p.Ser193=) rs781952637
NM_000117.3(EMD):c.581C>G (p.Ser194Ter)
NM_000117.3(EMD):c.581_582del (p.Ser194fs) rs1557182654
NM_000117.3(EMD):c.582A>G (p.Ser194=) rs781933286
NM_000117.3(EMD):c.587C>G (p.Ser196Cys)
NM_000117.3(EMD):c.587C>T (p.Ser196Phe) rs781900414
NM_000117.3(EMD):c.591C>G (p.Ser197=) rs1227767189
NM_000117.3(EMD):c.591C>T (p.Ser197=) rs1227767189
NM_000117.3(EMD):c.599G>T (p.Trp200Leu)
NM_000117.3(EMD):c.59A>G (p.Asn20Ser)
NM_000117.3(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.3(EMD):c.607del (p.Arg203fs) rs1569552106
NM_000117.3(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.3(EMD):c.610C>G (p.Arg204Gly) rs782299893
NM_000117.3(EMD):c.618C>G (p.Ile206Met) rs782496874
NM_000117.3(EMD):c.619del (p.Arg207fs) rs2067885544
NM_000117.3(EMD):c.620G>C (p.Arg207Pro) rs782352489
NM_000117.3(EMD):c.621G>C (p.Arg207=)
NM_000117.3(EMD):c.621del (p.Pro208fs) rs1557182670
NM_000117.3(EMD):c.623C>G (p.Pro208Arg) rs987808355
NM_000117.3(EMD):c.631C>G (p.Arg211Gly) rs782193940
NM_000117.3(EMD):c.639T>G (p.Pro213=)
NM_000117.3(EMD):c.63C>T (p.Ile21=)
NM_000117.3(EMD):c.640_644dup (p.Gln219fs) rs1557182676
NM_000117.3(EMD):c.641G>C (p.Gly214Ala) rs2148128967
NM_000117.3(EMD):c.643_653dup (p.Gln219fs) rs2148128961
NM_000117.3(EMD):c.643del (p.Ala215fs)
NM_000117.3(EMD):c.650_654del (p.Leu217fs) rs730880352
NM_000117.3(EMD):c.650_654dup (p.Gln219fs) rs730880352
NM_000117.3(EMD):c.651G>A (p.Leu217=) rs2067885915
NM_000117.3(EMD):c.651_655dup (p.Gln219fs)
NM_000117.3(EMD):c.656A>G (p.Gln219Arg)
NM_000117.3(EMD):c.65C>T (p.Pro22Leu) rs794729017
NM_000117.3(EMD):c.662G>A (p.Arg221His) rs782057378
NM_000117.3(EMD):c.663C>T (p.Arg221=)
NM_000117.3(EMD):c.667G>A (p.Val223Ile)
NM_000117.3(EMD):c.669C>T (p.Val223=)
NM_000117.3(EMD):c.66G>A (p.Pro22=)
NM_000117.3(EMD):c.66G>T (p.Pro22=)
NM_000117.3(EMD):c.670C>T (p.Pro224Ser) rs1557182687
NM_000117.3(EMD):c.671C>G (p.Pro224Arg)
NM_000117.3(EMD):c.672G>C (p.Pro224=)
NM_000117.3(EMD):c.674del (p.Leu225fs)
NM_000117.3(EMD):c.676_677del (p.Trp226fs)
NM_000117.3(EMD):c.680_684del (p.Gly227fs) rs2148128987
NM_000117.3(EMD):c.681C>A (p.Gly227=)
NM_000117.3(EMD):c.683A>G (p.Gln228Arg)
NM_000117.3(EMD):c.684GCT[2] (p.Leu231del) rs2067886222
NM_000117.3(EMD):c.688C>T (p.Leu230=) rs980424914
NM_000117.3(EMD):c.68_69delinsCT (p.His23Pro) rs2067873549
NM_000117.3(EMD):c.697C>T (p.Leu233=) rs1603366026
NM_000117.3(EMD):c.69C>G (p.His23Gln)
NM_000117.3(EMD):c.706G>A (p.Val236Met)
NM_000117.3(EMD):c.709A>G (p.Ile237Val) rs2148129009
NM_000117.3(EMD):c.70G>A (p.Gly24Arg) rs727504628
NM_000117.3(EMD):c.70G>C (p.Gly24Arg)
NM_000117.3(EMD):c.712G>A (p.Val238Ile) rs782455914
NM_000117.3(EMD):c.717_718del (p.Phe240fs) rs1603366041
NM_000117.3(EMD):c.718T>C (p.Phe240Leu)
NM_000117.3(EMD):c.718TTC[1] (p.Phe241del) rs2148129019
NM_000117.3(EMD):c.720C>T (p.Phe240=) rs2067886666
NM_000117.3(EMD):c.723C>T (p.Phe241=)
NM_000117.3(EMD):c.725T>G (p.Ile242Ser) rs2067886717
NM_000117.3(EMD):c.73C>A (p.Pro25Thr) rs876661346
NM_000117.3(EMD):c.741G>A (p.Gln247=)
NM_000117.3(EMD):c.74C>G (p.Pro25Arg) rs2067873634
NM_000117.3(EMD):c.74C>T (p.Pro25Leu) rs2067873634
NM_000117.3(EMD):c.762C>G (p.Phe254Leu)
NM_000117.3(EMD):c.762C>T (p.Phe254=) rs1603366051
NM_000117.3(EMD):c.77T>C (p.Val26Ala) rs727505029
NM_000117.3(EMD):c.77dup (p.Val27fs) rs2067873691
NM_000117.3(EMD):c.79del (p.Val26_Val27insTer)
NM_000117.3(EMD):c.82+12C>T
NM_000117.3(EMD):c.82+19G>C
NM_000117.3(EMD):c.82+20A>C
NM_000117.3(EMD):c.82+3A>G
NM_000117.3(EMD):c.82+4C>A rs376569563
NM_000117.3(EMD):c.82+4C>T
NM_000117.3(EMD):c.82G>A (p.Gly28Arg) rs1064797380
NM_000117.3(EMD):c.82G>C (p.Gly28Arg) rs1064797380
NM_000117.3(EMD):c.83-12G>A
NM_000117.3(EMD):c.83-13C>T
NM_000117.3(EMD):c.83-16C>T
NM_000117.3(EMD):c.83-17G>A rs782637320
NM_000117.3(EMD):c.83-2A>C rs727504901
NM_000117.3(EMD):c.83-6G>A
NM_000117.3(EMD):c.83-9T>C
NM_000117.3(EMD):c.83G>A (p.Gly28Glu) rs781978021
NM_000117.3(EMD):c.85T>C (p.Ser29Pro) rs2067874763
NM_000117.3(EMD):c.86C>T (p.Ser29Leu)
NM_000117.3(EMD):c.87A>G (p.Ser29=)
NM_000117.3(EMD):c.92G>C (p.Arg31Pro)
NM_000117.3(EMD):c.92G>T (p.Arg31Leu) rs2148128120
NM_000117.3(EMD):c.95G>C (p.Arg32Thr)
NM_000117.3(EMD):c.96G>A (p.Arg32=)
NM_000117.3(EMD):c.9C>T (p.Asn3=)
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.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.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>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_001449.4(FHL1):c.157-?_*1334+?dup

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