NM_001360.3(DHCR7):c.438T>C (p.Asn146=)
|
rs949177
|
0.90629
|
NM_002296.4(LBR):c.843A>G (p.Val281=)
|
rs61749339
|
0.01280
|
NM_014762.4(DHCR24):c.360C>T (p.Asp120=)
|
rs61733134
|
0.00798
|
NM_001360.3(DHCR7):c.549C>T (p.Cys183=)
|
rs115446684
|
0.00470
|
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=)
|
rs142351862
|
0.00444
|
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)
|
rs139721775
|
0.00296
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu)
|
rs139186585
|
0.00143
|
NM_015922.3(NSDHL):c.306C>T (p.Phe102=)
|
rs141089248
|
0.00138
|
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser)
|
rs144512551
|
0.00129
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_014762.4(DHCR24):c.731C>T (p.Pro244Leu)
|
rs138667252
|
0.00061
|
NM_015922.3(NSDHL):c.834C>T (p.Phe278=)
|
rs149698967
|
0.00057
|
NM_014762.4(DHCR24):c.463G>A (p.Val155Met)
|
rs138933459
|
0.00051
|
NM_015922.3(NSDHL):c.351T>C (p.Phe117=)
|
rs138711934
|
0.00045
|
NM_006579.3(EBP):c.650C>T (p.Thr217Met)
|
rs150348311
|
0.00044
|
NM_015922.3(NSDHL):c.678C>T (p.Phe226=)
|
rs147293409
|
0.00044
|
NM_000431.4(MVK):c.-15+16C>T
|
rs758229545
|
0.00041
|
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu)
|
rs201466849
|
0.00041
|
NM_002296.4(LBR):c.1315-13T>C
|
rs201793983
|
0.00041
|
NM_000431.4(MVK):c.371+20A>G
|
rs142078694
|
0.00036
|
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile)
|
rs143587828
|
0.00030
|
NM_000431.4(MVK):c.-14-17T>C
|
rs186232847
|
0.00029
|
NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala)
|
rs139166382
|
0.00029
|
NM_001360.3(DHCR7):c.988G>A (p.Val330Met)
|
rs139724817
|
0.00029
|
NM_006579.3(EBP):c.13G>A (p.Ala5Thr)
|
rs201992088
|
0.00027
|
NM_001360.3(DHCR7):c.586A>G (p.Met196Val)
|
rs200474791
|
0.00026
|
NM_000431.4(MVK):c.680C>T (p.Ser227Leu)
|
rs201360189
|
0.00022
|
NM_000431.4(MVK):c.829C>T (p.Arg277Cys)
|
rs104895321
|
0.00021
|
NM_001360.3(DHCR7):c.131T>C (p.Ile44Thr)
|
rs142897396
|
0.00019
|
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser)
|
rs148609143
|
0.00019
|
NM_000431.4(MVK):c.663T>G (p.Ile221Met)
|
rs757289914
|
0.00018
|
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)
|
rs104895304
|
0.00018
|
NM_015922.3(NSDHL):c.987C>T (p.Val329=)
|
rs149122192
|
0.00017
|
NM_000431.4(MVK):c.524A>G (p.Asn175Ser)
|
rs138818135
|
0.00014
|
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)
|
rs142808899
|
0.00014
|
NM_000431.4(MVK):c.877G>A (p.Val293Met)
|
rs104895356
|
0.00013
|
NM_001360.3(DHCR7):c.1088G>A (p.Arg363His)
|
rs200539324
|
0.00012
|
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)
|
rs80338856
|
0.00012
|
NM_000431.4(MVK):c.785C>T (p.Ala262Val)
|
rs763106439
|
0.00011
|
NM_000431.4(MVK):c.937G>A (p.Ala313Thr)
|
rs371789705
|
0.00011
|
NM_001360.3(DHCR7):c.127G>A (p.Val43Ile)
|
rs200984695
|
0.00011
|
NM_001360.3(DHCR7):c.485C>T (p.Ala162Val)
|
rs398123606
|
0.00011
|
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)
|
rs542266962
|
0.00010
|
NM_000431.4(MVK):c.361C>T (p.Arg121Trp)
|
rs368026034
|
0.00009
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)
|
rs777425801
|
0.00009
|
NM_001360.3(DHCR7):c.690G>C (p.Gly230=)
|
rs773393807
|
0.00009
|
NM_001360.3(DHCR7):c.122C>T (p.Ala41Val)
|
rs761265690
|
0.00008
|
NM_000431.4(MVK):c.346T>C (p.Tyr116His)
|
rs104895382
|
0.00007
|
NM_000431.4(MVK):c.942T>A (p.Ser314=)
|
rs201216490
|
0.00007
|
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)
|
rs80338862
|
0.00007
|
NM_001360.3(DHCR7):c.1405C>T (p.Arg469Cys)
|
rs148660993
|
0.00007
|
NM_000431.4(MVK):c.-15G>A
|
rs567278499
|
0.00006
|
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)
|
rs104895317
|
0.00006
|
NM_000431.4(MVK):c.886-15A>T
|
rs367853629
|
0.00006
|
NM_000431.4(MVK):c.889C>A (p.Leu297Ile)
|
rs1047311477
|
0.00006
|
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys)
|
rs61757582
|
0.00006
|
NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr)
|
rs140400648
|
0.00006
|
NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys)
|
rs199506852
|
0.00006
|
NM_001360.3(DHCR7):c.1406G>A (p.Arg469His)
|
rs201150384
|
0.00006
|
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)
|
rs200334114
|
0.00006
|
NM_001360.3(DHCR7):c.92G>A (p.Arg31His)
|
rs370307688
|
0.00006
|
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser)
|
rs773929129
|
0.00005
|
NM_000431.4(MVK):c.1067C>T (p.Thr356Met)
|
rs104895342
|
0.00005
|
NM_000431.4(MVK):c.1139A>G (p.His380Arg)
|
rs104895324
|
0.00005
|
NM_000431.4(MVK):c.394G>A (p.Val132Ile)
|
rs104895336
|
0.00005
|
NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys)
|
rs531038145
|
0.00005
|
NM_001360.3(DHCR7):c.223A>T (p.Ile75Phe)
|
rs370748173
|
0.00005
|
NM_001360.3(DHCR7):c.303C>T (p.Thr101=)
|
rs777709295
|
0.00005
|
NM_001360.3(DHCR7):c.418G>A (p.Val140Met)
|
rs373908315
|
0.00005
|
NM_001360.3(DHCR7):c.964-5C>T
|
rs767108226
|
0.00005
|
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)
|
rs80338859
|
0.00005
|
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys)
|
rs368359145
|
0.00004
|
NM_000431.4(MVK):c.442G>A (p.Ala148Thr)
|
rs104895298
|
0.00004
|
NM_000431.4(MVK):c.608T>C (p.Val203Ala)
|
rs104895332
|
0.00004
|
NM_000431.4(MVK):c.681G>A (p.Ser227=)
|
rs764412001
|
0.00004
|
NM_000431.4(MVK):c.722G>A (p.Arg241His)
|
rs372166675
|
0.00004
|
NM_000431.4(MVK):c.863C>T (p.Pro288Leu)
|
rs104895355
|
0.00004
|
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)
|
rs547012639
|
0.00004
|
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met)
|
rs567600444
|
0.00004
|
NM_001360.3(DHCR7):c.1366G>A (p.Gly456Ser)
|
rs201847193
|
0.00004
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00004
|
NM_001360.3(DHCR7):c.545G>A (p.Trp182Ter)
|
rs536394774
|
0.00004
|
NM_001360.3(DHCR7):c.583G>A (p.Ala195Thr)
|
rs151170252
|
0.00004
|
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)
|
rs80338857
|
0.00004
|
NM_001360.3(DHCR7):c.770C>T (p.Ala257Val)
|
rs770925697
|
0.00004
|
NM_006579.3(EBP):c.188G>A (p.Arg63Gln)
|
rs782638360
|
0.00004
|
NM_000431.4(MVK):c.362G>A (p.Arg121Gln)
|
rs371511147
|
0.00003
|
NM_000431.4(MVK):c.372-9G>A
|
rs1325994522
|
0.00003
|
NM_000431.4(MVK):c.857C>T (p.Pro286Leu)
|
rs104895379
|
0.00003
|
NM_000431.4(MVK):c.974G>A (p.Arg325His)
|
rs374686559
|
0.00003
|
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs)
|
rs1318653026
|
0.00003
|
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter)
|
rs750345068
|
0.00003
|
NM_001360.3(DHCR7):c.1267G>A (p.Gly423Ser)
|
rs902179640
|
0.00003
|
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)
|
rs80338864
|
0.00003
|
NM_001360.3(DHCR7):c.289G>A (p.Ala97Thr)
|
rs150563256
|
0.00003
|
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)
|
rs121909767
|
0.00003
|
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232
|
0.00003
|
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)
|
rs1032242817
|
0.00003
|
NM_001360.3(DHCR7):c.822C>T (p.Asn274=)
|
rs139787408
|
0.00003
|
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)
|
rs565893436
|
0.00003
|
NM_000431.4(MVK):c.298G>A (p.Asp100Asn)
|
rs751713601
|
0.00002
|
NM_000431.4(MVK):c.317G>A (p.Arg106His)
|
rs778337320
|
0.00002
|
NM_000431.4(MVK):c.37A>T (p.Lys13Ter)
|
rs104895307
|
0.00002
|
NM_000431.4(MVK):c.418G>A (p.Gly140Arg)
|
rs781108404
|
0.00002
|
NM_000431.4(MVK):c.511G>A (p.Gly171Arg)
|
rs104895337
|
0.00002
|
NM_000431.4(MVK):c.830G>A (p.Arg277His)
|
rs104895352
|
0.00002
|
NM_000431.4(MVK):c.927C>T (p.Gly309=)
|
rs762580578
|
0.00002
|
NM_001360.3(DHCR7):c.1159G>A (p.Gly387Arg)
|
rs765707139
|
0.00002
|
NM_001360.3(DHCR7):c.1231G>A (p.Asp411Asn)
|
rs372055524
|
0.00002
|
NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)
|
rs751604696
|
0.00002
|
NM_001360.3(DHCR7):c.1369C>T (p.Arg457Trp)
|
rs371873032
|
0.00002
|
NM_001360.3(DHCR7):c.1370G>A (p.Arg457Gln)
|
rs886043122
|
0.00002
|
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln)
|
rs775034584
|
0.00002
|
NM_001360.3(DHCR7):c.279G>A (p.Thr93=)
|
rs774554996
|
0.00002
|
NM_001360.3(DHCR7):c.321G>C (p.Gln107His)
|
rs104886040
|
0.00002
|
NM_001360.3(DHCR7):c.520T>G (p.Phe174Val)
|
rs886044698
|
0.00002
|
NM_001360.3(DHCR7):c.543G>C (p.Leu181=)
|
rs146839126
|
0.00002
|
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)
|
rs775773057
|
0.00002
|
NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln)
|
rs781879080
|
0.00002
|
NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser)
|
rs782332983
|
0.00002
|
NM_015922.3(NSDHL):c.790-9T>A
|
rs1323999679
|
0.00002
|
NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg)
|
rs782141957
|
0.00002
|
NM_000431.4(MVK):c.1006G>A (p.Gly336Ser)
|
rs104895358
|
0.00001
|
NM_000431.4(MVK):c.1116C>T (p.Ile372=)
|
rs368066027
|
0.00001
|
NM_000431.4(MVK):c.1134C>T (p.Ser378=)
|
rs1885921145
|
0.00001
|
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter)
|
rs104895360
|
0.00001
|
NM_000431.4(MVK):c.188A>T (p.Asp63Val)
|
rs1165875328
|
0.00001
|
NM_000431.4(MVK):c.380C>T (p.Pro127Leu)
|
rs775474803
|
0.00001
|
NM_000431.4(MVK):c.423G>A (p.Ala141=)
|
rs756068705
|
0.00001
|
NM_000431.4(MVK):c.483C>T (p.Cys161=)
|
rs777886684
|
0.00001
|
NM_000431.4(MVK):c.484G>A (p.Glu162Lys)
|
rs200457031
|
0.00001
|
NM_000431.4(MVK):c.564G>A (p.Trp188Ter)
|
rs104895311
|
0.00001
|
NM_000431.4(MVK):c.565G>T (p.Ala189Ser)
|
rs1403009347
|
0.00001
|
NM_000431.4(MVK):c.58C>A (p.His20Asn)
|
rs11544299
|
0.00001
|
NM_000431.4(MVK):c.604G>A (p.Gly202Arg)
|
rs104895301
|
0.00001
|
NM_000431.4(MVK):c.613A>G (p.Asn205Asp)
|
rs104895364
|
0.00001
|
NM_000431.4(MVK):c.709A>T (p.Thr237Ser)
|
rs104895366
|
0.00001
|
NM_000431.4(MVK):c.721C>T (p.Arg241Cys)
|
rs758427037
|
0.00001
|
NM_000431.4(MVK):c.755A>G (p.Asn252Ser)
|
rs112324119
|
0.00001
|
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)
|
rs80338860
|
0.00001
|
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)
|
rs371302153
|
0.00001
|
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His)
|
rs142213147
|
0.00001
|
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)
|
rs373306653
|
0.00001
|
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)
|
rs779709646
|
0.00001
|
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter)
|
rs1555145605
|
0.00001
|
NM_001360.3(DHCR7):c.1153G>A (p.Ala385Thr)
|
rs750989470
|
0.00001
|
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr)
|
rs770819693
|
0.00001
|
NM_001360.3(DHCR7):c.1225G>A (p.Val409Ile)
|
rs757861528
|
0.00001
|
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)
|
rs535561852
|
0.00001
|
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)
|
rs760428437
|
0.00001
|
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln)
|
rs1331331095
|
0.00001
|
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser)
|
rs1478872904
|
0.00001
|
NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)
|
rs104886039
|
0.00001
|
NM_001360.3(DHCR7):c.342C>A (p.Leu114=)
|
rs773047702
|
0.00001
|
NM_001360.3(DHCR7):c.412+3A>T
|
rs786200926
|
0.00001
|
NM_001360.3(DHCR7):c.413-2A>G
|
rs775575609
|
0.00001
|
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)
|
rs753960624
|
0.00001
|
NM_001360.3(DHCR7):c.513C>T (p.Thr171=)
|
rs566499249
|
0.00001
|
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser)
|
rs769218623
|
0.00001
|
NM_001360.3(DHCR7):c.523G>A (p.Asp175Asn)
|
rs368269558
|
0.00001
|
NM_001360.3(DHCR7):c.52G>A (p.Val18Ile)
|
rs770947907
|
0.00001
|
NM_001360.3(DHCR7):c.616G>A (p.Ala206Thr)
|
rs542744675
|
0.00001
|
NM_001360.3(DHCR7):c.626+1G>T
|
rs1471145742
|
0.00001
|
NM_001360.3(DHCR7):c.638G>A (p.Gly213Asp)
|
rs769583377
|
0.00001
|
NM_001360.3(DHCR7):c.651C>A (p.Tyr217Ter)
|
rs749076525
|
0.00001
|
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)
|
rs779896782
|
0.00001
|
NM_001360.3(DHCR7):c.658A>T (p.Met220Leu)
|
rs200659923
|
0.00001
|
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg)
|
rs777248132
|
0.00001
|
NM_001360.3(DHCR7):c.778C>G (p.Arg260Gly)
|
rs777617141
|
0.00001
|
NM_001360.3(DHCR7):c.823G>A (p.Val275Ile)
|
rs775628929
|
0.00001
|
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter)
|
rs756564881
|
0.00001
|
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)
|
rs398123607
|
0.00001
|
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)
|
rs121909765
|
0.00001
|
NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter)
|
rs774187452
|
0.00001
|
NM_001360.3(DHCR7):c.947A>G (p.Tyr316Cys)
|
rs754992933
|
0.00001
|
NM_001360.3(DHCR7):c.956C>T (p.Thr319Met)
|
rs766583874
|
0.00001
|
NM_001360.3(DHCR7):c.964-10C>T
|
rs753345689
|
0.00001
|
NM_001360.3(DHCR7):c.99-7C>T
|
rs1177383343
|
0.00001
|
NM_002296.4(LBR):c.1366C>G (p.Leu456Val)
|
rs377110126
|
0.00001
|
NM_002296.4(LBR):c.860T>C (p.Ile287Thr)
|
rs201093644
|
0.00001
|
NM_006579.3(EBP):c.414C>T (p.Ile138=)
|
rs976210101
|
0.00001
|
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys)
|
rs119475041
|
0.00001
|
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu)
|
rs145580873
|
0.00001
|
NM_015922.3(NSDHL):c.565C>T (p.Pro189Ser)
|
rs782376691
|
0.00001
|
NM_015922.3(NSDHL):c.612C>T (p.Phe204=)
|
rs782252634
|
0.00001
|
GRCh37/hg19 11q13.4(chr11:71155018-71156024)
|
|
|
NM_000431.4(MVK):c.1039+1G>C
|
|
|
NM_000431.4(MVK):c.1059G>A (p.Val353=)
|
rs2136257119
|
|
NM_000431.4(MVK):c.1133C>G (p.Ser378Cys)
|
|
|
NM_000431.4(MVK):c.1144del (p.Ala382fs)
|
|
|
NM_000431.4(MVK):c.115C>T (p.Leu39Phe)
|
|
|
NM_000431.4(MVK):c.119G>T (p.Arg40Leu)
|
rs373095009
|
|
NM_000431.4(MVK):c.129_130del (p.His44fs)
|
rs104895368
|
|
NM_000431.4(MVK):c.226+1del
|
|
|
NM_000431.4(MVK):c.227-20C>A
|
|
|
NM_000431.4(MVK):c.227-9G>A
|
|
|
NM_000431.4(MVK):c.247C>T (p.Pro83Ser)
|
|
|
NM_000431.4(MVK):c.250del (p.Thr84fs)
|
|
|
NM_000431.4(MVK):c.277_283del (p.Glu93fs)
|
rs104895369
|
|
NM_000431.4(MVK):c.291G>T (p.Leu97Phe)
|
|
|
NM_000431.4(MVK):c.307G>A (p.Val103Ile)
|
|
|
NM_000431.4(MVK):c.316C>T (p.Arg106Cys)
|
|
|
NM_000431.4(MVK):c.337del (p.Leu113fs)
|
|
|
NM_000431.4(MVK):c.33G>A (p.Pro11=)
|
rs779289416
|
|
NM_000431.4(MVK):c.340_344del (p.Tyr114fs)
|
rs104895370
|
|
NM_000431.4(MVK):c.341A>G (p.Tyr114Cys)
|
|
|
NM_000431.4(MVK):c.371+1GT[4]
|
rs1337419856
|
|
NM_000431.4(MVK):c.372-8T>C
|
|
|
NM_000431.4(MVK):c.388G>A (p.Asp130Asn)
|
|
|
NM_000431.4(MVK):c.417dup (p.Gly140fs)
|
rs104895373
|
|
NM_000431.4(MVK):c.439G>A (p.Ala147Thr)
|
rs104895363
|
|
NM_000431.4(MVK):c.518G>A (p.Cys173Tyr)
|
rs1267793765
|
|
NM_000431.4(MVK):c.631+4G>A
|
|
|
NM_000431.4(MVK):c.662T>C (p.Ile221Thr)
|
|
|
NM_000431.4(MVK):c.665C>A (p.Ser222Ter)
|
|
|
NM_000431.4(MVK):c.677+12G>A
|
rs539146613
|
|
NM_000431.4(MVK):c.677+1G>A
|
|
|
NM_000431.4(MVK):c.706A>G (p.Asn236Asp)
|
|
|
NM_000431.4(MVK):c.718C>T (p.Pro240Ser)
|
rs758952837
|
|
NM_000431.4(MVK):c.719C>G (p.Pro240Arg)
|
rs1458254066
|
|
NM_000431.4(MVK):c.71A>C (p.His24Pro)
|
|
|
NM_000431.4(MVK):c.733G>T (p.Ala245Ser)
|
rs2136245024
|
|
NM_000431.4(MVK):c.78+1G>A
|
rs1884864809
|
|
NM_000431.4(MVK):c.78+1G>T
|
|
|
NM_000431.4(MVK):c.780C>A (p.Ile260=)
|
rs34975996
|
|
NM_000431.4(MVK):c.781G>A (p.Val261Met)
|
|
|
NM_000431.4(MVK):c.790del (p.Leu264fs)
|
|
|
NM_000431.4(MVK):c.832G>A (p.Val278Met)
|
rs574045811
|
|
NM_000431.4(MVK):c.843G>T (p.Glu281Asp)
|
rs758317084
|
|
NM_000431.4(MVK):c.848G>C (p.Gly283Ala)
|
|
|
NM_000431.4(MVK):c.877G>T (p.Val293Leu)
|
|
|
NM_000431.4(MVK):c.885+2dup
|
|
|
NM_000431.4(MVK):c.925G>A (p.Gly309Ser)
|
rs104895305
|
|
NM_000431.4(MVK):c.943_944del (p.Leu315fs)
|
rs776735249
|
|
NM_000431.4(MVK):c.973C>T (p.Arg325Cys)
|
|
|
NM_000431.4(MVK):c.976G>A (p.Gly326Arg)
|
rs104895308
|
|
NM_001360.3(DHCR7):c.1001C>G (p.Thr334Ser)
|
|
|
NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp)
|
rs1409887214
|
|
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln)
|
rs121909768
|
|
NM_001360.3(DHCR7):c.1057del (p.Val353fs)
|
rs759720450
|
|
NM_001360.3(DHCR7):c.1066del (p.His356fs)
|
rs774291653
|
|
NM_001360.3(DHCR7):c.1093G>T (p.Asp365Tyr)
|
|
|
NM_001360.3(DHCR7):c.1098G>A (p.Gly366=)
|
rs2135939894
|
|
NM_001360.3(DHCR7):c.1139_1140delinsTA (p.Cys380Leu)
|
|
|
NM_001360.3(DHCR7):c.1155_1162del (p.Asp386fs)
|
|
|
NM_001360.3(DHCR7):c.1163A>C (p.Gln388Pro)
|
|
|
NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr)
|
rs544442568
|
|
NM_001360.3(DHCR7):c.1170C>A (p.His390Gln)
|
|
|
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu)
|
rs773134475
|
|
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser)
|
rs61757582
|
|
NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu)
|
rs1949268068
|
|
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg)
|
rs80338862
|
|
NM_001360.3(DHCR7):c.1231_1234del (p.Gly410_Asp411insTer)
|
|
|
NM_001360.3(DHCR7):c.1270G>T (p.Gly424Cys)
|
|
|
NM_001360.3(DHCR7):c.1295A>G (p.Tyr432Cys)
|
rs1565584679
|
|
NM_001360.3(DHCR7):c.1297A>G (p.Ile433Val)
|
rs1244124212
|
|
NM_001360.3(DHCR7):c.12A>G (p.Lys4=)
|
rs757934834
|
|
NM_001360.3(DHCR7):c.1324C>T (p.His442Tyr)
|
|
|
NM_001360.3(DHCR7):c.1327C>G (p.Arg443Gly)
|
|
|
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)
|
rs781687341
|
|
NM_001360.3(DHCR7):c.1328G>C (p.Arg443Pro)
|
rs781687341
|
|
NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro)
|
rs751604696
|
|
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln)
|
rs80338864
|
|
NM_001360.3(DHCR7):c.1348del (p.Arg450fs)
|
rs886042362
|
|
NM_001360.3(DHCR7):c.1349G>T (p.Arg450Leu)
|
|
|
NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)
|
|
|
NM_001360.3(DHCR7):c.1375T>C (p.Trp459Arg)
|
|
|
NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter)
|
rs1555145550
|
|
NM_001360.3(DHCR7):c.14C>T (p.Ser5Leu)
|
rs1127869
|
|
NM_001360.3(DHCR7):c.156C>G (p.Phe52Leu)
|
|
|
NM_001360.3(DHCR7):c.187C>T (p.Gln63Ter)
|
|
|
NM_001360.3(DHCR7):c.214G>A (p.Val72Met)
|
|
|
NM_001360.3(DHCR7):c.237T>C (p.His79=)
|
rs1316013264
|
|
NM_001360.3(DHCR7):c.249G>A (p.Ser83=)
|
|
|
NM_001360.3(DHCR7):c.304T>C (p.Leu102=)
|
rs1591113264
|
|
NM_001360.3(DHCR7):c.306G>C (p.Leu102Phe)
|
|
|
NM_001360.3(DHCR7):c.310G>T (p.Val104Phe)
|
|
|
NM_001360.3(DHCR7):c.314C>A (p.Thr105Asn)
|
|
|
NM_001360.3(DHCR7):c.322-9G>A
|
rs2135945639
|
|
NM_001360.3(DHCR7):c.322G>T (p.Val108Leu)
|
|
|
NM_001360.3(DHCR7):c.322_330del
|
|
|
NM_001360.3(DHCR7):c.335C>T (p.Thr112Met)
|
|
|
NM_001360.3(DHCR7):c.355del (p.His119fs)
|
rs747827699
|
|
NM_001360.3(DHCR7):c.356A>G (p.His119Arg)
|
rs28938174
|
|
NM_001360.3(DHCR7):c.356A>T (p.His119Leu)
|
rs28938174
|
|
NM_001360.3(DHCR7):c.369C>T (p.Pro123=)
|
rs373452254
|
|
NM_001360.3(DHCR7):c.37A>G (p.Lys13Glu)
|
|
|
NM_001360.3(DHCR7):c.385_412+5del
|
rs746482788
|
|
NM_001360.3(DHCR7):c.38A>G (p.Lys13Arg)
|
|
|
NM_001360.3(DHCR7):c.413-12C>T
|
|
|
NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu)
|
rs1555146475
|
|
NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys)
|
rs949177
|
|
NM_001360.3(DHCR7):c.439G>A (p.Gly147Ser)
|
|
|
NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)
|
rs143312232
|
|
NM_001360.3(DHCR7):c.523G>C (p.Asp175His)
|
|
|
NM_001360.3(DHCR7):c.587T>C (p.Met196Thr)
|
|
|
NM_001360.3(DHCR7):c.636del (p.Gly213fs)
|
|
|
NM_001360.3(DHCR7):c.650A>G (p.Tyr217Cys)
|
|
|
NM_001360.3(DHCR7):c.660G>C (p.Met220Ile)
|
rs767377692
|
|
NM_001360.3(DHCR7):c.676A>G (p.Asn226Asp)
|
|
|
NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln)
|
|
|
NM_001360.3(DHCR7):c.687C>G (p.Ile229Met)
|
rs267603172
|
|
NM_001360.3(DHCR7):c.700G>C (p.Asp234His)
|
|
|
NM_001360.3(DHCR7):c.70G>A (p.Ala24Thr)
|
rs146867923
|
|
NM_001360.3(DHCR7):c.725G>C (p.Arg242Pro)
|
|
|
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)
|
rs121909764
|
|
NM_001360.3(DHCR7):c.740C>T (p.Ala247Val)
|
rs886041354
|
|
NM_001360.3(DHCR7):c.760T>C (p.Ser254Pro)
|
|
|
NM_001360.3(DHCR7):c.76C>T (p.Gln26Ter)
|
|
|
NM_001360.3(DHCR7):c.770C>G (p.Ala257Gly)
|
|
|
NM_001360.3(DHCR7):c.779G>A (p.Arg260Gln)
|
|
|
NM_001360.3(DHCR7):c.803A>G (p.Asn268Ser)
|
|
|
NM_001360.3(DHCR7):c.803del (p.Asn268fs)
|
rs1555146023
|
|
NM_001360.3(DHCR7):c.809T>C (p.Met270Thr)
|
|
|
NM_001360.3(DHCR7):c.822C>A (p.Asn274Lys)
|
rs139787408
|
|
NM_001360.3(DHCR7):c.830A>G (p.Gln277Arg)
|
|
|
NM_001360.3(DHCR7):c.831+1G>T
|
|
|
NM_001360.3(DHCR7):c.831+4C>T
|
|
|
NM_001360.3(DHCR7):c.835A>G (p.Ile279Val)
|
|
|
NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu)
|
rs184297154
|
|
NM_001360.3(DHCR7):c.861C>A (p.Asn287Lys)
|
rs766495775
|
|
NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser)
|
|
|
NM_001360.3(DHCR7):c.903_906delinsATTT (p.His301Gln)
|
|
|
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)
|
rs80338858
|
|
NM_001360.3(DHCR7):c.907G>C (p.Gly303Arg)
|
|
|
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp)
|
rs142808899
|
|
NM_001360.3(DHCR7):c.911G>A (p.Trp304Ter)
|
|
|
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys)
|
rs367585401
|
|
NM_001360.3(DHCR7):c.928G>A (p.Asp310Asn)
|
|
|
NM_001360.3(DHCR7):c.963+1G>A
|
|
|
NM_001360.3(DHCR7):c.963+1G>T
|
rs1057516973
|
|
NM_001360.3(DHCR7):c.963+2T>G
|
rs1057517070
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001360.3(DHCR7):c.964-1G>T
|
rs138659167
|
|
NM_001360.3(DHCR7):c.964-31_970delinsTGTCCACCCCGC
|
|
|
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His)
|
rs1173707321
|
|
NM_001360.3(DHCR7):c.979T>C (p.Tyr327His)
|
|
|
NM_001360.3(DHCR7):c.98+1G>C
|
|
|
NM_006579.3(EBP):c.175G>A (p.Gly59Arg)
|
rs782558322
|
|
NM_006579.3(EBP):c.185G>A (p.Arg62Gln)
|
|
|
NM_006579.3(EBP):c.193T>C (p.Ser65Pro)
|
|
|
NM_006579.3(EBP):c.250G>A (p.Val84Ile)
|
|
|
NM_006579.3(EBP):c.25C>T (p.His9Tyr)
|
|
|
NM_006579.3(EBP):c.27C>G (p.His9Gln)
|
|
|
NM_006579.3(EBP):c.283G>A (p.Ala95Thr)
|
rs2147154752
|
|
NM_006579.3(EBP):c.347A>G (p.Asn116Ser)
|
|
|
NM_006579.3(EBP):c.50G>C (p.Arg17Thr)
|
|
|
NM_006579.3(EBP):c.604G>C (p.Val202Leu)
|
|
|
NM_006579.3(EBP):c.626A>C (p.Lys209Thr)
|
|
|
NM_014762.4(DHCR24):c.1024A>G (p.Ile342Val)
|
rs2101555676
|
|
NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg)
|
rs2125017628
|
|
NM_015922.3(NSDHL):c.1037C>G (p.Ala346Gly)
|
rs782563536
|
|
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)
|
rs142351862
|
|
NM_015922.3(NSDHL):c.1100G>A (p.Arg367His)
|
|
|
NM_015922.3(NSDHL):c.1118A>G (p.Lys373Arg)
|
rs1933665377
|
|
NM_015922.3(NSDHL):c.19G>A (p.Glu7Lys)
|
|
|
NM_015922.3(NSDHL):c.268-15dup
|
rs782031217
|
|
NM_015922.3(NSDHL):c.273G>C (p.Leu91=)
|
|
|
NM_015922.3(NSDHL):c.529A>G (p.Ile177Val)
|
|
|
NM_015922.3(NSDHL):c.656C>T (p.Ala219Val)
|
|
|
NM_015922.3(NSDHL):c.691G>A (p.Gly231Arg)
|
|
|
NM_015922.3(NSDHL):c.74T>C (p.Val25Ala)
|
|
|
NM_015922.3(NSDHL):c.754G>C (p.Glu252Gln)
|
|
|
NM_015922.3(NSDHL):c.770A>G (p.Asp257Gly)
|
|
|
NM_015922.3(NSDHL):c.780G>A (p.Leu260=)
|
|
|
NM_015922.3(NSDHL):c.830C>G (p.Thr277Arg)
|
|
|
NM_015922.3(NSDHL):c.842G>T (p.Arg281Leu)
|
|
|
NM_015922.3(NSDHL):c.847C>G (p.Leu283Val)
|
|
|