ClinVar Miner

List of variants in gene EMD studied for X-linked Emery-Dreifuss muscular dystrophy

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 524
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HGVS dbSNP gnomAD frequency
NM_000117.3(EMD):c.465C>T (p.Tyr155=) rs143447675 0.00375
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00298
NM_000117.3(EMD):c.83-13C>G rs201140396 0.00292
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
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_000117.3(EMD):c.646G>A (p.Gly216Arg) rs147920229 0.00026
NM_000117.3(EMD):c.639T>C (p.Pro213=) rs782196388 0.00021
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_000117.3(EMD):c.537G>A (p.Leu179=) rs368661339 0.00015
NM_000117.3(EMD):c.432A>G (p.Glu144=) rs377125466 0.00014
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00013
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) rs374981936 0.00010
NM_000117.3(EMD):c.188-18C>G rs376439797 0.00009
NM_000117.3(EMD):c.450-12C>T rs1185461600 0.00008
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_000117.3(EMD):c.470G>A (p.Arg157Gln) rs148515772 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_000117.3(EMD):c.108G>A (p.Lys36=) rs1057521050 0.00005
NM_000117.3(EMD):c.153C>A (p.Pro51=) rs782051850 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.399+19G>A rs1210419490 0.00005
NM_000117.3(EMD):c.525C>T (p.Ser175=) rs782367505 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.187+18G>A rs199589609 0.00004
NM_000117.3(EMD):c.30C>G (p.Thr10=) rs145781828 0.00004
NM_000117.3(EMD):c.317G>A (p.Gly106Glu) rs1312994862 0.00004
NM_000117.3(EMD):c.449+5G>A rs370840449 0.00004
NM_000117.3(EMD):c.459C>T (p.Pro153=) rs782147479 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_000117.3(EMD):c.746A>G (p.Glu249Gly) rs781947413 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.276C>T (p.Asp92=) rs782680849 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.413A>G (p.Asp138Gly) rs1212579575 0.00003
NM_000117.3(EMD):c.469C>T (p.Arg157Trp) rs782431693 0.00003
NM_000117.3(EMD):c.671C>T (p.Pro224Leu) rs782559230 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_000117.3(EMD):c.132G>A (p.Gln44=) rs1322660028 0.00002
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.177T>C (p.Tyr59=) rs782552135 0.00002
NM_000117.3(EMD):c.187+12G>C rs1350189520 0.00002
NM_000117.3(EMD):c.206G>A (p.Gly69Glu) rs782578669 0.00002
NM_000117.3(EMD):c.241G>A (p.Asp81Asn) rs141138209 0.00002
NM_000117.3(EMD):c.264G>C (p.Lys88Asn) rs782178894 0.00002
NM_000117.3(EMD):c.321G>T (p.Glu107Asp) rs1452250882 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.361G>A (p.Val121Met) rs2067880161 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.449+11G>C rs782616042 0.00002
NM_000117.3(EMD):c.449+20A>T rs1335628803 0.00002
NM_000117.3(EMD):c.534C>A (p.Asp178Glu) rs1430510939 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.632G>A (p.Arg211His) rs782596223 0.00002
NM_000117.3(EMD):c.662G>T (p.Arg221Leu) rs782057378 0.00002
NM_000117.3(EMD):c.672G>A (p.Pro224=) rs1267603257 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_000117.3(EMD):c.83-12G>A rs1418472251 0.00002
NM_000117.3(EMD):c.83-17G>A rs782637320 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.149C>A (p.Pro50His) rs782021157 0.00001
NM_000117.3(EMD):c.15A>G (p.Ala5=) rs1365728244 0.00001
NM_000117.3(EMD):c.188-13C>T rs782141516 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.207G>A (p.Gly69=) rs1557182361 0.00001
NM_000117.3(EMD):c.237A>C (p.Lys79Asn) rs148202306 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.266-13C>T rs372638635 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.345G>A (p.Arg115=) rs2067879966 0.00001
NM_000117.3(EMD):c.359C>T (p.Ser120Leu) rs782038352 0.00001
NM_000117.3(EMD):c.390C>T (p.Phe130=) rs781952981 0.00001
NM_000117.3(EMD):c.400-12T>A rs1603365912 0.00001
NM_000117.3(EMD):c.400-13C>T rs1557182538 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.415C>T (p.Leu139Phe) rs1460129668 0.00001
NM_000117.3(EMD):c.423T>G (p.Ser141=) rs1209782193 0.00001
NM_000117.3(EMD):c.425C>T (p.Ser142Phe) rs2067882775 0.00001
NM_000117.3(EMD):c.433G>A (p.Glu145Lys) rs2067882908 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.450-13T>G rs375480222 0.00001
NM_000117.3(EMD):c.450-19C>T rs1557182589 0.00001
NM_000117.3(EMD):c.455G>A (p.Arg152His) rs782317753 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.497A>G (p.His166Arg) rs1016943599 0.00001
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys) rs2067884177 0.00001
NM_000117.3(EMD):c.502C>T (p.Arg168Cys) rs886044839 0.00001
NM_000117.3(EMD):c.503G>T (p.Arg168Leu) rs898460509 0.00001
NM_000117.3(EMD):c.506_507del (p.Pro169fs) rs1422834817 0.00001
NM_000117.3(EMD):c.551C>T (p.Thr184Ile) rs1028555428 0.00001
NM_000117.3(EMD):c.557C>T (p.Ser186Phe) rs372718547 0.00001
NM_000117.3(EMD):c.571A>G (p.Met191Val) rs397515752 0.00001
NM_000117.3(EMD):c.572T>C (p.Met191Thr) rs782244432 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.581C>T (p.Ser194Leu) rs782697057 0.00001
NM_000117.3(EMD):c.582A>C (p.Ser194=) rs781933286 0.00001
NM_000117.3(EMD):c.587C>T (p.Ser196Phe) rs781900414 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.706G>A (p.Val236Met) rs782174448 0.00001
NM_000117.3(EMD):c.711C>T (p.Ile237=) rs727503037 0.00001
NM_000117.3(EMD):c.712G>A (p.Val238Ile) rs782455914 0.00001
NM_000117.3(EMD):c.718T>C (p.Phe240Leu) rs782644985 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.741G>A (p.Gln247=) rs1557182727 0.00001
NM_000117.3(EMD):c.82+12C>T rs1557182221 0.00001
NM_000117.3(EMD):c.82+9C>T rs1422586674 0.00001
NM_000117.3(EMD):c.86C>T (p.Ser29Leu) rs1414486158 0.00001
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_000023.10:g.(?_154379237)_(154381523_?)del
NM_000117.3(EMD):c.-161CAACGATTCGGCTGTGACGCGA[1] rs1463296648
NM_000117.3(EMD):c.101dup (p.Tyr34Ter) rs1569552079
NM_000117.3(EMD):c.102C>G (p.Tyr34Ter) rs2148128122
NM_000117.3(EMD):c.102C>T (p.Tyr34=) rs2148128122
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del) rs782507902
NM_000117.3(EMD):c.105G>A (p.Glu35=) rs2522787492
NM_000117.3(EMD):c.110A>G (p.Lys37Arg) rs1085307681
NM_000117.3(EMD):c.110_111delinsTC (p.Lys37Ile)
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.116_143del (p.Phe39fs) rs1569552080
NM_000117.3(EMD):c.118G>C (p.Glu40Gln) rs2067875036
NM_000117.3(EMD):c.121T>G (p.Tyr41Asp) rs1466415445
NM_000117.3(EMD):c.121_155del (p.Tyr41fs) rs1557182286
NM_000117.3(EMD):c.123C>A (p.Tyr41Ter) rs1060502612
NM_000117.3(EMD):c.125del (p.Glu42fs) rs2148128139
NM_000117.3(EMD):c.12C>A (p.Tyr4Ter) rs782011714
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) rs2148128155
NM_000117.3(EMD):c.139_140dup (p.Leu48fs) rs2148128153
NM_000117.3(EMD):c.143dup (p.Ser49fs) rs2522787619
NM_000117.3(EMD):c.144C>G (p.Leu48=) rs200537612
NM_000117.3(EMD):c.152C>G (p.Pro51Arg) rs2067875460
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.161C>T (p.Ser54Phe) rs782764813
NM_000117.3(EMD):c.162C>T (p.Ser54=) rs2522787711
NM_000117.3(EMD):c.168C>T (p.Ala56=) rs782087009
NM_000117.3(EMD):c.168CTC[1] (p.Ser58del) rs2522787737
NM_000117.3(EMD):c.16del (p.Asp6fs) rs1569552076
NM_000117.3(EMD):c.176A>G (p.Tyr59Cys) rs2148128196
NM_000117.3(EMD):c.178del (p.Ser60fs)
NM_000117.3(EMD):c.180C>G (p.Ser60Arg) rs2067875771
NM_000117.3(EMD):c.180C>T (p.Ser60=) rs2067875771
NM_000117.3(EMD):c.187+11C>A rs781880719
NM_000117.3(EMD):c.187+11C>T
NM_000117.3(EMD):c.187+13C>T rs1557182322
NM_000117.3(EMD):c.187+16G>T rs1166833869
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 rs782622770
NM_000117.3(EMD):c.187+2T>G rs2522787812
NM_000117.3(EMD):c.187+4A>T rs2148128205
NM_000117.3(EMD):c.187+5G>C rs2522787819
NM_000117.3(EMD):c.187+7G>A rs2522787824
NM_000117.3(EMD):c.187+7G>T rs2522787824
NM_000117.3(EMD):c.188-12C>G rs371016049
NM_000117.3(EMD):c.188-14T>C rs1189809189
NM_000117.3(EMD):c.188-15C>G rs2067876909
NM_000117.3(EMD):c.188-18C>T rs376439797
NM_000117.3(EMD):c.188-20del rs2522788165
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 rs2067876984
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.198G>C (p.Ser66=)
NM_000117.3(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.3(EMD):c.208G>A (p.Asp70Asn)
NM_000117.3(EMD):c.208G>T (p.Asp70Tyr) rs2148128314
NM_000117.3(EMD):c.209A>G (p.Asp70Gly)
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.226C>T (p.Leu76Phe)
NM_000117.3(EMD):c.229C>T (p.Pro77Ser) rs1557182365
NM_000117.3(EMD):c.22del (p.Ser8fs) rs2522787001
NM_000117.3(EMD):c.231C>G (p.Pro77=) rs2148128330
NM_000117.3(EMD):c.231C>T (p.Pro77=) rs2148128330
NM_000117.3(EMD):c.235A>G (p.Lys79Glu) rs2522788313
NM_000117.3(EMD):c.236A>G (p.Lys79Arg) rs2522788318
NM_000117.3(EMD):c.236_239del (p.Lys79fs)
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=) rs2522788335
NM_000117.3(EMD):c.250C>G (p.Leu84Val)
NM_000117.3(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.3(EMD):c.252C>G (p.Leu84=)
NM_000117.3(EMD):c.255C>T (p.Tyr85=) rs1303189631
NM_000117.3(EMD):c.256C>T (p.Gln86Ter) rs2522788352
NM_000117.3(EMD):c.262A>T (p.Lys88Ter) rs2522788362
NM_000117.3(EMD):c.265+10G>A rs2067877747
NM_000117.3(EMD):c.265+11G>T rs951717059
NM_000117.3(EMD):c.265+12G>T rs1344584265
NM_000117.3(EMD):c.265+17G>A rs2522788406
NM_000117.3(EMD):c.265+7_265+8insTTTACTCTACCAGAGCA rs2522788383
NM_000117.3(EMD):c.265+8A>G rs2522788384
NM_000117.3(EMD):c.266-10C>T rs2067879183
NM_000117.3(EMD):c.266-10_266-9del rs1557182427
NM_000117.3(EMD):c.266-13C>A rs372638635
NM_000117.3(EMD):c.266-19C>T rs1057522166
NM_000117.3(EMD):c.266-19del rs2522788684
NM_000117.3(EMD):c.266-2A>G rs727503036
NM_000117.3(EMD):c.266-3A>G rs2148128459
NM_000117.3(EMD):c.266-9C>G rs782152177
NM_000117.3(EMD):c.266-9C>T rs782152177
NM_000117.3(EMD):c.266-9dup rs1557182427
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.274GAC[1] (p.Asp93del)
NM_000117.3(EMD):c.275A>G (p.Asp92Gly)
NM_000117.3(EMD):c.277G>T (p.Asp93Tyr)
NM_000117.3(EMD):c.27T>C (p.Asp9=)
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter) rs1557182431
NM_000117.3(EMD):c.284A>T (p.Tyr95Phe)
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.302C>G (p.Thr101Ser) rs1023451135
NM_000117.3(EMD):c.303C>T (p.Thr101=) rs1348212533
NM_000117.3(EMD):c.306C>A (p.Thr102=)
NM_000117.3(EMD):c.307A>G (p.Arg103Gly) rs369096485
NM_000117.3(EMD):c.309G>A (p.Arg103=) rs2148128497
NM_000117.3(EMD):c.30C>T (p.Thr10=) rs145781828
NM_000117.3(EMD):c.311C>A (p.Thr104Asn) rs1245332627
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.325G>A (p.Glu109Lys)
NM_000117.3(EMD):c.327G>A (p.Glu109=) rs2522788879
NM_000117.3(EMD):c.32A>G (p.Glu11Gly) rs2522787030
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) rs782365183
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.340T>C (p.Ser114Pro)
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) rs1557182458
NM_000117.3(EMD):c.359C>A (p.Ser120Ter)
NM_000117.3(EMD):c.369A>G (p.Ser123=) rs2148128541
NM_000117.3(EMD):c.377A>G (p.Asp126Gly) rs2522788971
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) rs2522789000
NM_000117.3(EMD):c.393T>C (p.His131=)
NM_000117.3(EMD):c.397C>T (p.Gln133Ter) rs2522789017
NM_000117.3(EMD):c.399+16G>A rs2522789032
NM_000117.3(EMD):c.399+17G>T
NM_000117.3(EMD):c.399+18C>A rs182540760
NM_000117.3(EMD):c.399+19G>T rs1210419490
NM_000117.3(EMD):c.399+1G>T rs2148128554
NM_000117.3(EMD):c.399+2T>C rs2522789026
NM_000117.3(EMD):c.399G>C (p.Gln133His) rs2522789019
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 rs2522789789
NM_000117.3(EMD):c.400-11_400-5dup
NM_000117.3(EMD):c.400-13CT[2] rs1427015192
NM_000117.3(EMD):c.400-15G>A rs1557182535
NM_000117.3(EMD):c.400-15G>C rs1557182535
NM_000117.3(EMD):c.400-17C>G rs2522789769
NM_000117.3(EMD):c.400-3C>T rs2522789807
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.406del (p.Asp136fs) rs2148128715
NM_000117.3(EMD):c.408T>C (p.Asp136=) rs1569552096
NM_000117.3(EMD):c.409G>A (p.Asp137Asn)
NM_000117.3(EMD):c.409_414del (p.Asp137_Asp138del)
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.41C>A (p.Thr14Asn) rs1429597161
NM_000117.3(EMD):c.421TCT[2] (p.Ser143del) rs1557182551
NM_000117.3(EMD):c.425C>G (p.Ser142Cys)
NM_000117.3(EMD):c.428_430del (p.Ser143_Glu144delinsTer) rs2522789891
NM_000117.3(EMD):c.430G>T (p.Glu144Ter) rs1557182560
NM_000117.3(EMD):c.437A>G (p.Glu146Gly) rs2148128747
NM_000117.3(EMD):c.438G>A (p.Glu146=) rs1557182564
NM_000117.3(EMD):c.439_449+3del
NM_000117.3(EMD):c.441C>A (p.Cys147Ter) rs2522789929
NM_000117.3(EMD):c.442A>G (p.Lys148Glu)
NM_000117.3(EMD):c.447T>C (p.Asp149=)
NM_000117.3(EMD):c.448A>G (p.Arg150Gly) rs2522789946
NM_000117.3(EMD):c.449+10G>T rs782467790
NM_000117.3(EMD):c.449+11G>T
NM_000117.3(EMD):c.449+17C>G rs2522789990
NM_000117.3(EMD):c.449+18C>A rs1403407870
NM_000117.3(EMD):c.449+19C>G
NM_000117.3(EMD):c.449+1G>A rs2148128756
NM_000117.3(EMD):c.449+4C>T rs886044810
NM_000117.3(EMD):c.449+7A>G rs2522789965
NM_000117.3(EMD):c.449G>A (p.Arg150Lys)
NM_000117.3(EMD):c.449G>C (p.Arg150Thr) rs1557182571
NM_000117.3(EMD):c.450-11T>C rs2522790090
NM_000117.3(EMD):c.450-14C>G rs2522790073
NM_000117.3(EMD):c.450-17C>G rs782368864
NM_000117.3(EMD):c.450-17C>T rs782368864
NM_000117.3(EMD):c.450-1G>A rs2522790106
NM_000117.3(EMD):c.450-2A>G rs398123158
NM_000117.3(EMD):c.450-6C>T rs1442814913
NM_000117.3(EMD):c.450-8T>C rs2522790094
NM_000117.3(EMD):c.456C>T (p.Arg152=) rs2148128787
NM_000117.3(EMD):c.457C>T (p.Pro153Ser) rs1044928339
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.489C>T (p.Ser163=) rs782558454
NM_000117.3(EMD):c.48G>T (p.Leu16=) rs2522787069
NM_000117.3(EMD):c.490A>C (p.Ile164Leu) rs2067884058
NM_000117.3(EMD):c.490A>G (p.Ile164Val) rs2067884058
NM_000117.3(EMD):c.495G>T (p.Thr165=) rs151074632
NM_000117.3(EMD):c.503G>A (p.Arg168His) rs898460509
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.512C>G (p.Ser171Ter) rs886044901
NM_000117.3(EMD):c.516C>T (p.Ala172=) rs2522790243
NM_000117.3(EMD):c.51C>T (p.Arg17=)
NM_000117.3(EMD):c.520A>C (p.Arg174=) rs2067884337
NM_000117.3(EMD):c.524G>A (p.Ser175Asn) rs2067884357
NM_000117.3(EMD):c.525C>G (p.Ser175Arg) rs782367505
NM_000117.3(EMD):c.527C>T (p.Ser176Phe)
NM_000117.3(EMD):c.529C>T (p.Leu177=) rs2522790267
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>T (p.Asp178=) rs1430510939
NM_000117.3(EMD):c.535C>T (p.Leu179=) rs1260147167
NM_000117.3(EMD):c.542A>G (p.Tyr181Cys) rs1569552104
NM_000117.3(EMD):c.543T>C (p.Tyr181=) rs2522790305
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer) rs794729019
NM_000117.3(EMD):c.546T>A (p.Tyr182Ter) rs2522790318
NM_000117.3(EMD):c.547C>A (p.Pro183Thr) rs104894806
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) rs2067884621
NM_000117.3(EMD):c.553T>C (p.Ser185Pro) rs2522790343
NM_000117.3(EMD):c.555C>T (p.Ser185=) rs2522790355
NM_000117.3(EMD):c.558C>T (p.Ser186=) rs2148128859
NM_000117.3(EMD):c.561C>T (p.Ser187=) rs2522790370
NM_000117.3(EMD):c.561_567dup (p.Phe190fs) rs2148128862
NM_000117.3(EMD):c.563C>A (p.Thr188Asn)
NM_000117.3(EMD):c.570del (p.Phe190fs) rs2148128871
NM_000117.3(EMD):c.570dup (p.Met191fs) rs2148128871
NM_000117.3(EMD):c.576C>G (p.Ser192=) rs2522790411
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) rs782697057
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) 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.596C>T (p.Ser199Leu)
NM_000117.3(EMD):c.599G>T (p.Trp200Leu) rs2522790469
NM_000117.3(EMD):c.59A>G (p.Asn20Ser) rs2522787108
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.615del (p.Ile206fs) rs2148128932
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=) rs2522790545
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.631del (p.Arg211fs) rs2148128957
NM_000117.3(EMD):c.639T>G (p.Pro213=) rs782196388
NM_000117.3(EMD):c.63C>T (p.Ile21=) rs2522787118
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) rs2522790590
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) rs2522790624
NM_000117.3(EMD):c.656A>G (p.Gln219Arg) rs2522790628
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.662_663insT (p.Gln222fs) rs2522790651
NM_000117.3(EMD):c.663C>T (p.Arg221=) rs2522790655
NM_000117.3(EMD):c.666G>C (p.Gln222His)
NM_000117.3(EMD):c.667G>A (p.Val223Ile) rs2522790663
NM_000117.3(EMD):c.669C>T (p.Val223=) rs2522790667
NM_000117.3(EMD):c.66G>A (p.Pro22=) rs1557182206
NM_000117.3(EMD):c.66G>T (p.Pro22=) rs1557182206
NM_000117.3(EMD):c.670C>T (p.Pro224Ser) rs1557182687
NM_000117.3(EMD):c.671C>G (p.Pro224Arg) rs782559230
NM_000117.3(EMD):c.672G>C (p.Pro224=) rs1267603257
NM_000117.3(EMD):c.674_678del (p.Leu225fs) rs1557182692
NM_000117.3(EMD):c.674del (p.Leu225fs) rs2522790689
NM_000117.3(EMD):c.676_677del (p.Trp226fs) rs2522790701
NM_000117.3(EMD):c.680_684del (p.Gly227fs) rs2148128987
NM_000117.3(EMD):c.681C>A (p.Gly227=) rs781875808
NM_000117.3(EMD):c.683A>G (p.Gln228Arg) rs2522790721
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) rs1557182208
NM_000117.3(EMD):c.69C>T (p.His23=)
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) rs727504628
NM_000117.3(EMD):c.715C>T (p.Leu239Phe) rs2067886585
NM_000117.3(EMD):c.717_718del (p.Phe240fs) rs1603366041
NM_000117.3(EMD):c.718TTC[1] (p.Phe241del) rs2148129019
NM_000117.3(EMD):c.71G>T (p.Gly24Val)
NM_000117.3(EMD):c.720C>T (p.Phe240=) rs2067886666
NM_000117.3(EMD):c.723C>T (p.Phe241=) rs2522790802
NM_000117.3(EMD):c.725T>G (p.Ile242Ser) rs2067886717
NM_000117.3(EMD):c.736A>T (p.Met246Leu)
NM_000117.3(EMD):c.73C>A (p.Pro25Thr) rs876661346
NM_000117.3(EMD):c.740_743del (p.Gln247fs)
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.752G>A (p.Gly251Asp)
NM_000117.3(EMD):c.753C>T (p.Gly251=)
NM_000117.3(EMD):c.762C>G (p.Phe254Leu) rs1603366051
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) rs2522787159
NM_000117.3(EMD):c.82+10G>A
NM_000117.3(EMD):c.82+19G>C rs2522787218
NM_000117.3(EMD):c.82+1G>A rs1557182214
NM_000117.3(EMD):c.82+1G>T rs1557182214
NM_000117.3(EMD):c.82+20A>C rs2522787223
NM_000117.3(EMD):c.82+3A>G rs2522787173
NM_000117.3(EMD):c.82+4C>A rs376569563
NM_000117.3(EMD):c.82+4C>T rs376569563
NM_000117.3(EMD):c.82+8G>A
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.83-13C>T rs201140396
NM_000117.3(EMD):c.83-16C>T rs1557182270
NM_000117.3(EMD):c.83-18C>T rs782577051
NM_000117.3(EMD):c.83-2A>C rs727504901
NM_000117.3(EMD):c.83-3C>T
NM_000117.3(EMD):c.83-6G>A rs2522787426
NM_000117.3(EMD):c.83-7C>T
NM_000117.3(EMD):c.83-9T>C rs2522787422
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.87A>G (p.Ser29=) rs910093145
NM_000117.3(EMD):c.92G>C (p.Arg31Pro) rs2148128120
NM_000117.3(EMD):c.92G>T (p.Arg31Leu) rs2148128120
NM_000117.3(EMD):c.95G>C (p.Arg32Thr) rs2522787464
NM_000117.3(EMD):c.96G>A (p.Arg32=) rs2522787466
NM_000117.3(EMD):c.9C>G (p.Asn3Lys)
NM_000117.3(EMD):c.9C>T (p.Asn3=) rs781878601
NM_000117.3:c.55_83del

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