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: 827
Download table as spreadsheet
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.(?_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.(?_135288592)_(135741574_?)del
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.(?_152954030)_(154005142_?)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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.