NM_000117.3(EMD):c.*59G>C
|
rs17426
|
0.18669
|
NM_000117.3(EMD):c.*60C>T
|
rs17427
|
0.17955
|
NM_000117.3(EMD):c.188-52G>A
|
rs184469118
|
0.01725
|
NM_000117.3(EMD):c.-134A>G
|
rs111878670
|
0.00566
|
NM_000117.3(EMD):c.83-13C>G
|
rs201140396
|
0.00292
|
NM_000117.3(EMD):c.399+64T>C
|
rs72616475
|
0.00207
|
NM_000117.3(EMD):c.399+18C>T
|
rs182540760
|
0.00199
|
NM_000117.3(EMD):c.399+49G>A
|
rs187060390
|
0.00102
|
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.12C>T (p.Tyr4=)
|
rs782011714
|
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.459C>T (p.Pro153=)
|
rs782147479
|
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.234G>A (p.Lys78=)
|
rs781889152
|
0.00003
|
NM_000117.3(EMD):c.243C>T (p.Asp81=)
|
rs150757295
|
0.00003
|
NM_000117.3(EMD):c.449+5G>A
|
rs370840449
|
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.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.449+10G>C
|
rs782467790
|
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.149C>A (p.Pro50His)
|
rs782021157
|
0.00001
|
NM_000117.3(EMD):c.168C>T (p.Ala56=)
|
rs782087009
|
0.00001
|
NM_000117.3(EMD):c.295T>C (p.Tyr99His)
|
rs781835089
|
0.00001
|
NM_000117.3(EMD):c.385G>A (p.Ala129Thr)
|
rs782768362
|
0.00001
|
NM_000117.3(EMD):c.400G>A (p.Val134Met)
|
rs201250825
|
0.00001
|
NM_000117.3(EMD):c.423T>G (p.Ser141=)
|
rs1209782193
|
0.00001
|
NM_000117.3(EMD):c.575C>T (p.Ser192Phe)
|
rs782393829
|
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.*88AGGGGC[1]
|
rs1191128249
|
|
NM_000117.3(EMD):c.-161CAACGATTCGGCTGTGACGCGA[1]
|
rs1463296648
|
|
NM_000117.3(EMD):c.-7A>C
|
rs797044612
|
|
NM_000117.3(EMD):c.103G>T (p.Glu35Ter)
|
rs782222974
|
|
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)
|
rs782507902
|
|
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.121_155del (p.Tyr41fs)
|
rs1557182286
|
|
NM_000117.3(EMD):c.124G>A (p.Glu42Lys)
|
rs1557182291
|
|
NM_000117.3(EMD):c.128C>G (p.Thr43Ser)
|
rs1569552081
|
|
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)
|
rs132630262
|
|
NM_000117.3(EMD):c.144C>G (p.Leu48=)
|
rs200537612
|
|
NM_000117.3(EMD):c.153dup (p.Ser52fs)
|
rs876661345
|
|
NM_000117.3(EMD):c.177_178del (p.Tyr59_Ser60delinsTer)
|
rs2067875732
|
|
NM_000117.3(EMD):c.187+1G>T
|
rs794729010
|
|
NM_000117.3(EMD):c.1A>G (p.Met1Val)
|
rs267606782
|
|
NM_000117.3(EMD):c.20T>A (p.Leu7His)
|
rs794729016
|
|
NM_000117.3(EMD):c.212C>T (p.Ala71Val)
|
rs2148128318
|
|
NM_000117.3(EMD):c.239_240insT (p.Glu80fs)
|
rs398123155
|
|
NM_000117.3(EMD):c.251_255del (p.Leu84fs)
|
rs782452523
|
|
NM_000117.3(EMD):c.266-2A>G
|
rs727503036
|
|
NM_000117.3(EMD):c.266-35_266-18dup
|
rs200992013
|
|
NM_000117.3(EMD):c.266G>A (p.Gly89Asp)
|
rs2148128462
|
|
NM_000117.3(EMD):c.282C>A (p.Tyr94Ter)
|
rs1557182431
|
|
NM_000117.3(EMD):c.284_298del (p.Tyr95_Tyr99del)
|
rs398123156
|
|
NM_000117.3(EMD):c.355C>T (p.Gln119Ter)
|
rs398123157
|
|
NM_000117.3(EMD):c.3G>A (p.Met1Ile)
|
rs886044771
|
|
NM_000117.3(EMD):c.400-13CT[2]
|
rs1427015192
|
|
NM_000117.3(EMD):c.408T>C (p.Asp136=)
|
rs1569552096
|
|
NM_000117.3(EMD):c.419T>A (p.Leu140Ter)
|
rs1057524848
|
|
NM_000117.3(EMD):c.430G>T (p.Glu144Ter)
|
rs1557182560
|
|
NM_000117.3(EMD):c.449+4C>G
|
rs886044810
|
|
NM_000117.3(EMD):c.449+4C>T
|
rs886044810
|
|
NM_000117.3(EMD):c.450-2A>G
|
rs398123158
|
|
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.468_471del (p.Arg157fs)
|
rs1569552102
|
|
NM_000117.3(EMD):c.46_82+6del
|
rs1557182198
|
|
NM_000117.3(EMD):c.484C>T (p.Gln162Ter)
|
rs1557182611
|
|
NM_000117.3(EMD):c.495G>T (p.Thr165=)
|
rs151074632
|
|
NM_000117.3(EMD):c.512C>A (p.Ser171Ter)
|
rs886044901
|
|
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer)
|
rs794729019
|
|
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.550A>C (p.Thr184Pro)
|
|
|
NM_000117.3(EMD):c.559T>C (p.Ser187Pro)
|
rs794729012
|
|
NM_000117.3(EMD):c.562A>C (p.Thr188Pro)
|
rs1557182639
|
|
NM_000117.3(EMD):c.571A>G (p.Met191Val)
|
rs397515752
|
|
NM_000117.3(EMD):c.576CTC[1] (p.Ser199del)
|
rs2067884874
|
|
NM_000117.3(EMD):c.600G>A (p.Trp200Ter)
|
rs1557182661
|
|
NM_000117.3(EMD):c.60del (p.Asn20fs)
|
rs886041854
|
|
NM_000117.3(EMD):c.610C>G (p.Arg204Gly)
|
rs782299893
|
|
NM_000117.3(EMD):c.616A>G (p.Ile206Val)
|
|
|
NM_000117.3(EMD):c.621del (p.Pro208fs)
|
rs1557182670
|
|
NM_000117.3(EMD):c.640_644dup (p.Gln219fs)
|
rs1557182676
|
|
NM_000117.3(EMD):c.648G>A (p.Gly216=)
|
|
|
NM_000117.3(EMD):c.65C>T (p.Pro22Leu)
|
rs794729017
|
|
NM_000117.3(EMD):c.682C>T (p.Gln228Ter)
|
|
|
NM_000117.3(EMD):c.703_704insA (p.Phe235fs)
|
rs1557182708
|
|
NM_000117.3(EMD):c.70G>A (p.Gly24Arg)
|
rs727504628
|
|
NM_000117.3(EMD):c.73C>A (p.Pro25Thr)
|
rs876661346
|
|
NM_000117.3(EMD):c.82+4C>A
|
rs376569563
|
|
NM_000117.3(EMD):c.82G>A (p.Gly28Arg)
|
rs1064797380
|
|