List of variants in gene EMD studied for cardiovascular disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 485

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HGVS	dbSNP	gnomAD frequency
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_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.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_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_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_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.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.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_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_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_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.632G>A (p.Arg211His)	rs782596223	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_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.167C>T (p.Ala56Val)	rs781840855	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
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=)
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.116_143del (p.Phe39fs)	rs1569552080
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.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)
NM_000117.3(EMD):c.139_140dup (p.Leu48fs)	rs2148128153
NM_000117.3(EMD):c.143T>G (p.Leu48Arg)	rs2148128160
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.161C>T (p.Ser54Phe)
NM_000117.3(EMD):c.162C>T (p.Ser54=)
NM_000117.3(EMD):c.168CTC[1] (p.Ser58del)
NM_000117.3(EMD):c.16del (p.Asp6fs)	rs1569552076
NM_000117.3(EMD):c.176A>G (p.Tyr59Cys)	rs2148128196
NM_000117.3(EMD):c.177T>C (p.Tyr59=)
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=)
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.19C>T (p.Leu7Phe)	rs2067873080
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.22del (p.Ser8fs)
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.264G>C (p.Lys88Asn)
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+2T>A	rs1603365762
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.266-2A>G	rs727503036
NM_000117.3(EMD):c.266-35_266-18dup	rs200992013
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.274GAC[1] (p.Asp93del)
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.352C>T (p.Arg118Cys)	rs781847968
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.406del (p.Asp136fs)	rs2148128715
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.428_430del (p.Ser143_Glu144delinsTer)
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.441C>A (p.Cys147Ter)
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+1G>A	rs2148128756
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.450-1G>A
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.455G>A (p.Arg152His)
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.506_507del (p.Pro169fs)	rs1422834817
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)
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>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)
NM_000117.3(EMD):c.551C>T (p.Thr184Ile)
NM_000117.3(EMD):c.553T>C (p.Ser185Pro)
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.562A>C (p.Thr188Pro)	rs1557182639
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.605C>T (p.Thr202Ile)
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=)
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=)
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.662_663insT (p.Gln222fs)
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.674_678del (p.Leu225fs)	rs1557182692
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.715C>T (p.Leu239Phe)	rs2067886585
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.730C>T (p.His244Tyr)	rs2067886772
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.759C>G (p.Pro253=)	rs1569552110
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+1G>A	rs1557182214
NM_000117.3(EMD):c.82+1G>T	rs1557182214
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_000117.3:c.55_83del

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