NM_005670.4(EPM2A):c.159C>G (p.Ala53=)
|
rs2235482
|
0.63686
|
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)
|
rs197922
|
0.32616
|
NM_005506.4(SCARB2):c.1113+14T>A
|
rs35369082
|
0.21009
|
NM_005670.4(EPM2A):c.402G>A (p.Gly134=)
|
rs35230590
|
0.18342
|
NM_005506.4(SCARB2):c.48G>C (p.Leu16=)
|
rs72857097
|
0.04875
|
NM_005506.4(SCARB2):c.1186G>A (p.Val396Ile)
|
rs2228380
|
0.02529
|
NM_000100.4(CSTB):c.15G>T (p.Ala5=)
|
rs4533
|
0.01826
|
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys)
|
rs187930476
|
0.01101
|
NM_005506.4(SCARB2):c.475A>G (p.Met159Val)
|
rs143655258
|
0.00858
|
NM_005506.4(SCARB2):c.362G>A (p.Arg121Gln)
|
rs73826386
|
0.00619
|
NM_000100.4(CSTB):c.67-3T>C
|
rs6383
|
0.00473
|
NM_005506.4(SCARB2):c.1239+14C>T
|
rs143699909
|
0.00432
|
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys)
|
rs113817924
|
0.00232
|
NM_005506.4(SCARB2):c.171T>C (p.Pro57=)
|
rs199895330
|
0.00232
|
NM_005670.4(EPM2A):c.393G>A (p.Glu131=)
|
rs61758155
|
0.00223
|
NM_005506.4(SCARB2):c.445G>A (p.Val149Met)
|
rs147159813
|
0.00217
|
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)
|
rs146321088
|
0.00197
|
NM_005670.4(EPM2A):c.719-4G>A
|
rs145030227
|
0.00191
|
NM_005506.4(SCARB2):c.704+16T>C
|
rs199686576
|
0.00148
|
NM_005670.4(EPM2A):c.129C>G (p.Ala43=)
|
rs547147183
|
0.00145
|
NM_005506.4(SCARB2):c.246G>C (p.Arg82=)
|
rs35035064
|
0.00116
|
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)
|
rs143558324
|
0.00114
|
NM_004287.5(GOSR2):c.322A>C (p.Thr108Pro)
|
rs138510884
|
0.00108
|
NM_000100.4(CSTB):c.121G>A (p.Val41Met)
|
rs143153487
|
0.00101
|
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)
|
rs147399860
|
0.00087
|
NM_005670.4(EPM2A):c.171G>T (p.Pro57=)
|
rs531330673
|
0.00086
|
NM_005670.4(EPM2A):c.24G>A (p.Val8=)
|
rs587780938
|
0.00077
|
NM_000100.4(CSTB):c.54C>T (p.His18=)
|
rs557717323
|
0.00073
|
NM_004287.5(GOSR2):c.369A>G (p.Ser123=)
|
rs150381512
|
0.00064
|
NM_005506.4(SCARB2):c.424-4G>A
|
rs368869126
|
0.00060
|
NM_005670.4(EPM2A):c.681C>T (p.Ala227=)
|
rs61758156
|
0.00057
|
NM_005506.4(SCARB2):c.486C>T (p.Ala162=)
|
rs143518519
|
0.00054
|
NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys)
|
rs143754727
|
0.00052
|
NM_005506.4(SCARB2):c.276-7C>G
|
rs200507087
|
0.00042
|
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser)
|
rs149997095
|
0.00041
|
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg)
|
rs374826256
|
0.00041
|
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)
|
rs150452237
|
0.00041
|
NM_005670.4(EPM2A):c.718+19C>G
|
rs370750611
|
0.00040
|
NM_005506.4(SCARB2):c.567T>C (p.His189=)
|
rs141208366
|
0.00037
|
NM_004287.5(GOSR2):c.72G>A (p.Thr24=)
|
rs145772886
|
0.00036
|
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln)
|
rs550455609
|
0.00032
|
NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser)
|
rs150907052
|
0.00031
|
NM_004287.5(GOSR2):c.29+8C>T
|
rs573306680
|
0.00029
|
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg)
|
rs753397854
|
0.00029
|
NM_005670.4(EPM2A):c.849T>C (p.Tyr283=)
|
rs142027344
|
0.00029
|
NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
NM_004287.5(GOSR2):c.336+1G>A
|
rs141554661
|
0.00026
|
NM_005506.4(SCARB2):c.275+7C>T
|
rs777137419
|
0.00026
|
NM_005670.4(EPM2A):c.876G>A (p.Val292=)
|
rs774234576
|
0.00025
|
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp)
|
rs946076987
|
0.00023
|
NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr)
|
rs148022786
|
0.00019
|
NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn)
|
rs142392473
|
0.00019
|
NM_004287.5(GOSR2):c.64C>T (p.Leu22=)
|
rs770760366
|
0.00016
|
NM_004287.5(GOSR2):c.94+7A>C
|
rs376231923
|
0.00016
|
NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr)
|
rs141250135
|
0.00016
|
NM_005506.4(SCARB2):c.228C>T (p.Leu76=)
|
rs35069772
|
0.00016
|
NM_005506.4(SCARB2):c.244C>T (p.Arg82Trp)
|
rs142690468
|
0.00016
|
NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys)
|
rs145870223
|
0.00016
|
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser)
|
rs141919651
|
0.00015
|
NM_005506.4(SCARB2):c.424-5C>T
|
rs192876326
|
0.00014
|
NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu)
|
rs200641543
|
0.00014
|
NM_004287.5(GOSR2):c.336+9G>A
|
rs200210055
|
0.00013
|
NM_004287.5(GOSR2):c.552G>T (p.Lys184Asn)
|
rs760846460
|
0.00012
|
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met)
|
rs149474488
|
0.00012
|
NM_005506.4(SCARB2):c.38C>T (p.Ser13Phe)
|
rs144791636
|
0.00012
|
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu)
|
rs117600063
|
0.00012
|
NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser)
|
rs61757376
|
0.00012
|
NM_005506.4(SCARB2):c.1210A>G (p.Met404Val)
|
rs147142116
|
0.00011
|
NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys)
|
rs138955932
|
0.00011
|
NM_005670.4(EPM2A):c.102G>C (p.Pro34=)
|
rs1014133463
|
0.00011
|
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val)
|
rs199856913
|
0.00011
|
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val)
|
rs144565191
|
0.00011
|
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val)
|
rs374043005
|
0.00011
|
NM_000100.4(CSTB):c.145G>A (p.Ala49Thr)
|
rs559906825
|
0.00010
|
NM_004287.5(GOSR2):c.246T>C (p.Thr82=)
|
rs141380070
|
0.00010
|
NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val)
|
rs144147706
|
0.00010
|
NM_005506.4(SCARB2):c.1265C>T (p.Ala422Val)
|
rs756606813
|
0.00010
|
NM_005506.4(SCARB2):c.1407G>A (p.Ala469=)
|
rs144878666
|
0.00010
|
NM_005506.4(SCARB2):c.826T>G (p.Ser276Ala)
|
rs188036542
|
0.00010
|
NM_005670.4(EPM2A):c.157G>A (p.Ala53Thr)
|
rs763719276
|
0.00010
|
NM_005670.4(EPM2A):c.49C>G (p.Arg17Gly)
|
rs767010700
|
0.00010
|
NM_005670.4(EPM2A):c.736C>T (p.Pro246Ser)
|
rs141975071
|
0.00010
|
NM_000100.4(CSTB):c.183C>T (p.Asp61=)
|
rs772899788
|
0.00009
|
NM_004287.5(GOSR2):c.203+3A>G
|
rs201423456
|
0.00009
|
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)
|
rs387906881
|
0.00009
|
NM_005506.4(SCARB2):c.1187+18C>T
|
rs202159028
|
0.00009
|
NM_005506.4(SCARB2):c.1385G>A (p.Gly462Glu)
|
rs117157204
|
0.00009
|
NM_005506.4(SCARB2):c.24G>A (p.Thr8=)
|
rs772501510
|
0.00009
|
NM_005506.4(SCARB2):c.275+20T>C
|
rs377180838
|
0.00009
|
NM_005506.4(SCARB2):c.402A>G (p.Arg134=)
|
rs778684185
|
0.00009
|
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn)
|
rs773017713
|
0.00009
|
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln)
|
rs368906199
|
0.00009
|
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr)
|
rs147324129
|
0.00008
|
NM_005670.4(EPM2A):c.222C>G (p.Asp74Glu)
|
rs748273406
|
0.00008
|
NM_000100.4(CSTB):c.45G>A (p.Glu15=)
|
rs1057521317
|
0.00007
|
NM_004287.5(GOSR2):c.336+14G>A
|
rs201083529
|
0.00007
|
NM_004287.5(GOSR2):c.519C>T (p.Gly173=)
|
rs552055294
|
0.00007
|
NM_005506.4(SCARB2):c.117+19T>C
|
rs774812479
|
0.00007
|
NM_005506.4(SCARB2):c.504T>A (p.Phe168Leu)
|
rs780352333
|
0.00007
|
NM_000100.4(CSTB):c.29A>C (p.Gln10Pro)
|
rs569851503
|
0.00006
|
NM_004287.5(GOSR2):c.149G>A (p.Arg50His)
|
rs377765254
|
0.00006
|
NM_004287.5(GOSR2):c.393G>T (p.Gln131His)
|
rs182039780
|
0.00006
|
NM_005506.4(SCARB2):c.1187+12T>C
|
rs532651260
|
0.00006
|
NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln)
|
rs751827409
|
0.00006
|
NM_005670.4(EPM2A):c.338A>G (p.Asn113Ser)
|
rs753867771
|
0.00006
|
NM_005670.4(EPM2A):c.436T>C (p.Tyr146His)
|
rs1393744393
|
0.00006
|
NM_005670.4(EPM2A):c.495G>T (p.Trp165Cys)
|
rs781291421
|
0.00006
|
NM_005670.4(EPM2A):c.984G>T (p.Val328=)
|
rs200996083
|
0.00006
|
NM_000100.4(CSTB):c.26C>T (p.Thr9Met)
|
rs778785343
|
0.00005
|
NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe)
|
rs137975476
|
0.00005
|
NM_004287.5(GOSR2):c.547G>A (p.Glu183Lys)
|
rs144472114
|
0.00005
|
NM_005506.4(SCARB2):c.118-12G>T
|
rs753744775
|
0.00005
|
NM_005506.4(SCARB2):c.1325T>C (p.Ile442Thr)
|
rs1064794450
|
0.00005
|
NM_005506.4(SCARB2):c.588T>C (p.Ser196=)
|
rs761204416
|
0.00005
|
NM_000100.4(CSTB):c.120C>T (p.Ala40=)
|
rs368198839
|
0.00004
|
NM_000100.4(CSTB):c.147G>A (p.Ala49=)
|
rs766654703
|
0.00004
|
NM_000100.4(CSTB):c.175G>A (p.Val59Ile)
|
rs531685360
|
0.00004
|
NM_000100.4(CSTB):c.192C>T (p.Phe64=)
|
rs773820884
|
0.00004
|
NM_000100.4(CSTB):c.221C>T (p.Pro74Leu)
|
rs753004113
|
0.00004
|
NM_000100.4(CSTB):c.224A>G (p.His75Arg)
|
rs755073483
|
0.00004
|
NM_000100.4(CSTB):c.264C>T (p.Asn88=)
|
rs767258722
|
0.00004
|
NM_000100.4(CSTB):c.67-10T>G
|
rs199873087
|
0.00004
|
NM_000100.4(CSTB):c.67-12C>T
|
rs776841907
|
0.00004
|
NM_004287.5(GOSR2):c.111C>T (p.Ile37=)
|
rs755662176
|
0.00004
|
NM_004287.5(GOSR2):c.204-7A>G
|
rs746177544
|
0.00004
|
NM_004287.5(GOSR2):c.272G>A (p.Arg91His)
|
rs145168042
|
0.00004
|
NM_004287.5(GOSR2):c.405C>T (p.Asn135=)
|
rs753166413
|
0.00004
|
NM_004287.5(GOSR2):c.477+20A>T
|
rs778488918
|
0.00004
|
NM_004287.5(GOSR2):c.637T>C (p.Ter213Arg)
|
rs1229223114
|
0.00004
|
NM_004287.5(GOSR2):c.80A>G (p.Lys27Arg)
|
rs373000501
|
0.00004
|
NM_005506.4(SCARB2):c.1089T>C (p.His363=)
|
rs753197792
|
0.00004
|
NM_005506.4(SCARB2):c.1240-18A>G
|
rs371940249
|
0.00004
|
NM_005506.4(SCARB2):c.1266G>A (p.Ala422=)
|
rs150330299
|
0.00004
|
NM_005506.4(SCARB2):c.1273C>T (p.Leu425=)
|
rs764452245
|
0.00004
|
NM_005506.4(SCARB2):c.1398+14dup
|
rs745656715
|
0.00004
|
NM_005506.4(SCARB2):c.522C>T (p.Asp174=)
|
rs375051752
|
0.00004
|
NM_005506.4(SCARB2):c.911A>G (p.Asn304Ser)
|
rs150870503
|
0.00004
|
NM_005506.4(SCARB2):c.914C>T (p.Thr305Met)
|
rs148588727
|
0.00004
|
NM_005506.4(SCARB2):c.915G>A (p.Thr305=)
|
rs762138695
|
0.00004
|
NM_005506.4(SCARB2):c.93G>A (p.Lys31=)
|
rs558215488
|
0.00004
|
NM_005506.4(SCARB2):c.9A>G (p.Arg3=)
|
rs148558907
|
0.00004
|
NM_005670.4(EPM2A):c.100C>G (p.Pro34Ala)
|
rs796052438
|
0.00004
|
NM_005670.4(EPM2A):c.348C>T (p.Asn116=)
|
rs760860945
|
0.00004
|
NM_005670.4(EPM2A):c.476+7A>G
|
rs756197281
|
0.00004
|
NM_005670.4(EPM2A):c.632C>T (p.Pro211Leu)
|
rs148475381
|
0.00004
|
NM_005670.4(EPM2A):c.845A>G (p.Gln282Arg)
|
rs763098296
|
0.00004
|
NM_005670.4(EPM2A):c.904G>A (p.Ala302Thr)
|
rs755742563
|
0.00004
|
NM_005670.4(EPM2A):c.918C>T (p.Asp306=)
|
rs375436219
|
0.00004
|
NM_005670.4(EPM2A):c.986G>A (p.Cys329Tyr)
|
rs780826386
|
0.00004
|
NM_000100.4(CSTB):c.167A>G (p.Lys56Arg)
|
rs935774172
|
0.00003
|
NM_000100.4(CSTB):c.96C>T (p.Asn32=)
|
rs1436155713
|
0.00003
|
NM_000100.4(CSTB):c.9C>T (p.Cys3=)
|
rs555930471
|
0.00003
|
NM_004287.5(GOSR2):c.105C>T (p.Asn35=)
|
rs780832143
|
0.00003
|
NM_004287.5(GOSR2):c.139C>T (p.Arg47Cys)
|
rs747328256
|
0.00003
|
NM_004287.5(GOSR2):c.269G>A (p.Arg90Gln)
|
rs760503363
|
0.00003
|
NM_004287.5(GOSR2):c.29+13C>T
|
rs747791818
|
0.00003
|
NM_004287.5(GOSR2):c.340T>C (p.Ser114Pro)
|
rs751635119
|
0.00003
|
NM_004287.5(GOSR2):c.447T>C (p.Asp149=)
|
rs750298260
|
0.00003
|
NM_004287.5(GOSR2):c.510C>G (p.Asn170Lys)
|
rs34572603
|
0.00003
|
NM_004287.5(GOSR2):c.538C>T (p.Arg180Trp)
|
rs1305687118
|
0.00003
|
NM_004287.5(GOSR2):c.57G>A (p.Met19Ile)
|
rs369247929
|
0.00003
|
NM_004287.5(GOSR2):c.619G>A (p.Val207Met)
|
rs780839289
|
0.00003
|
NM_004287.5(GOSR2):c.71C>T (p.Thr24Met)
|
rs528931142
|
0.00003
|
NM_004287.5(GOSR2):c.8C>A (p.Pro3His)
|
rs1131691533
|
0.00003
|
NM_005506.4(SCARB2):c.1057A>G (p.Ile353Val)
|
rs542349309
|
0.00003
|
NM_005506.4(SCARB2):c.1116G>A (p.Leu372=)
|
rs564647544
|
0.00003
|
NM_005506.4(SCARB2):c.117G>A (p.Lys39=)
|
rs1006710581
|
0.00003
|
NM_005506.4(SCARB2):c.1249A>G (p.Ile417Val)
|
rs778593496
|
0.00003
|
NM_005506.4(SCARB2):c.1263G>A (p.Thr421=)
|
rs137992547
|
0.00003
|
NM_005506.4(SCARB2):c.1332G>A (p.Ala444=)
|
rs768343387
|
0.00003
|
NM_005506.4(SCARB2):c.280C>T (p.Leu94Phe)
|
rs752416481
|
0.00003
|
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)
|
rs200053119
|
0.00003
|
NM_005506.4(SCARB2):c.468C>T (p.Ile156=)
|
rs771468161
|
0.00003
|
NM_005506.4(SCARB2):c.523G>A (p.Glu175Lys)
|
rs751711805
|
0.00003
|
NM_005506.4(SCARB2):c.582T>C (p.Asp194=)
|
rs772085575
|
0.00003
|
NM_005506.4(SCARB2):c.824+18A>G
|
rs755013803
|
0.00003
|
NM_005506.4(SCARB2):c.863A>G (p.Gln288Arg)
|
rs963202088
|
0.00003
|
NM_005670.4(EPM2A):c.156G>A (p.Leu52=)
|
rs1196934711
|
0.00003
|
NM_005670.4(EPM2A):c.190G>A (p.Val64Met)
|
rs749279494
|
0.00003
|
NM_005670.4(EPM2A):c.214G>A (p.Ala72Thr)
|
rs992596583
|
0.00003
|
NM_005670.4(EPM2A):c.241G>A (p.Val81Met)
|
rs747386643
|
0.00003
|
NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp)
|
rs376750373
|
0.00003
|
NM_005670.4(EPM2A):c.441T>C (p.Phe147=)
|
rs965931486
|
0.00003
|
NM_005670.4(EPM2A):c.553G>A (p.Gly185Arg)
|
rs796052423
|
0.00003
|
NM_005670.4(EPM2A):c.631C>A (p.Pro211Thr)
|
rs748048885
|
0.00003
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
NM_005670.4(EPM2A):c.761C>T (p.Ala254Val)
|
rs138798058
|
0.00003
|
NM_005670.4(EPM2A):c.762G>A (p.Ala254=)
|
rs199586710
|
0.00003
|
NM_005670.4(EPM2A):c.801C>T (p.Asn267=)
|
rs181746165
|
0.00003
|
NM_005670.4(EPM2A):c.807G>A (p.Gly269=)
|
rs755516128
|
0.00003
|
NM_005670.4(EPM2A):c.815G>A (p.Arg272His)
|
rs958366800
|
0.00003
|
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys)
|
rs754779408
|
0.00003
|
NM_005670.4(EPM2A):c.936G>A (p.Arg312=)
|
rs773315475
|
0.00003
|
NM_000100.4(CSTB):c.158A>G (p.Tyr53Cys)
|
rs762082236
|
0.00002
|
NM_000100.4(CSTB):c.168+13C>T
|
rs910966552
|
0.00002
|
NM_000100.4(CSTB):c.180C>T (p.Gly60=)
|
rs771027631
|
0.00002
|
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)
|
rs74315442
|
0.00002
|
NM_000100.4(CSTB):c.235C>T (p.Pro79Ser)
|
rs766285245
|
0.00002
|
NM_004287.5(GOSR2):c.133T>C (p.Phe45Leu)
|
rs1060500714
|
0.00002
|
NM_004287.5(GOSR2):c.229G>A (p.Val77Ile)
|
rs1407806851
|
0.00002
|
NM_004287.5(GOSR2):c.231C>T (p.Val77=)
|
rs774359254
|
0.00002
|
NM_004287.5(GOSR2):c.268C>T (p.Arg90Trp)
|
rs201101417
|
0.00002
|
NM_004287.5(GOSR2):c.29+9C>T
|
rs951923133
|
0.00002
|
NM_004287.5(GOSR2):c.30-14T>C
|
rs756098096
|
0.00002
|
NM_004287.5(GOSR2):c.336+13C>T
|
rs562959681
|
0.00002
|
NM_004287.5(GOSR2):c.546C>T (p.Ile182=)
|
rs1023140976
|
0.00002
|
NM_004287.5(GOSR2):c.563A>G (p.Gln188Arg)
|
rs776748629
|
0.00002
|
NM_004287.5(GOSR2):c.576T>C (p.Phe192=)
|
rs1433213435
|
0.00002
|
NM_004287.5(GOSR2):c.579G>A (p.Met193Ile)
|
rs768377570
|
0.00002
|
NM_004287.5(GOSR2):c.636A>G (p.Thr212=)
|
rs990159762
|
0.00002
|
NM_004287.5(GOSR2):c.68A>G (p.Glu23Gly)
|
rs200071814
|
0.00002
|
NM_004287.5(GOSR2):c.94+5G>A
|
rs754004382
|
0.00002
|
NM_005506.4(SCARB2):c.1105A>G (p.Ile369Val)
|
rs1311037416
|
0.00002
|
NM_005506.4(SCARB2):c.1235A>G (p.Asn412Ser)
|
rs771661901
|
0.00002
|
NM_005506.4(SCARB2):c.238A>C (p.Thr80Pro)
|
rs767397350
|
0.00002
|
NM_005506.4(SCARB2):c.275+14A>G
|
rs759250571
|
0.00002
|
NM_005506.4(SCARB2):c.291A>G (p.Lys97=)
|
rs377635556
|
0.00002
|
NM_005506.4(SCARB2):c.515C>T (p.Thr172Ile)
|
rs557392749
|
0.00002
|
NM_005506.4(SCARB2):c.746A>G (p.Asn249Ser)
|
rs199837910
|
0.00002
|
NM_005506.4(SCARB2):c.816C>G (p.Asp272Glu)
|
rs370666555
|
0.00002
|
NM_005506.4(SCARB2):c.825-3C>T
|
rs772593602
|
0.00002
|
NM_005506.4(SCARB2):c.825-8C>T
|
rs201397845
|
0.00002
|
NM_005506.4(SCARB2):c.904T>C (p.Leu302=)
|
rs377511764
|
0.00002
|
NM_005506.4(SCARB2):c.96T>C (p.Ala32=)
|
rs752537434
|
0.00002
|
NM_005670.4(EPM2A):c.154C>T (p.Leu52=)
|
rs1266603162
|
0.00002
|
NM_005670.4(EPM2A):c.249G>A (p.Thr83=)
|
rs1468442057
|
0.00002
|
NM_005670.4(EPM2A):c.261G>A (p.Lys87=)
|
rs755681637
|
0.00002
|
NM_005670.4(EPM2A):c.302-12T>C
|
rs771456156
|
0.00002
|
NM_005670.4(EPM2A):c.345C>T (p.Asn115=)
|
rs764231649
|
0.00002
|
NM_005670.4(EPM2A):c.352G>A (p.Val118Met)
|
rs903313803
|
0.00002
|
NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr)
|
rs796052430
|
0.00002
|
NM_005670.4(EPM2A):c.477-13A>G
|
rs778452911
|
0.00002
|
NM_005670.4(EPM2A):c.487A>G (p.Asn163Asp)
|
rs777767978
|
0.00002
|
NM_005670.4(EPM2A):c.595G>T (p.Val199Leu)
|
rs367827948
|
0.00002
|
NM_005670.4(EPM2A):c.620G>A (p.Arg207His)
|
rs571938170
|
0.00002
|
NM_005670.4(EPM2A):c.69G>T (p.Val23=)
|
rs951254850
|
0.00002
|
NM_005670.4(EPM2A):c.715G>A (p.Glu239Lys)
|
rs373652439
|
0.00002
|
NM_005670.4(EPM2A):c.768G>A (p.Leu256=)
|
rs753561820
|
0.00002
|
NM_005670.4(EPM2A):c.802G>A (p.Ala268Thr)
|
rs748514820
|
0.00002
|
NM_005670.4(EPM2A):c.825G>A (p.Ala275=)
|
rs762115387
|
0.00002
|
NM_005670.4(EPM2A):c.924G>A (p.Glu308=)
|
rs1439211009
|
0.00002
|
NM_005670.4(EPM2A):c.934C>T (p.Arg312Trp)
|
rs766334722
|
0.00002
|
NM_000100.4(CSTB):c.135C>T (p.Ser45=)
|
rs375008755
|
0.00001
|
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)
|
rs545986367
|
0.00001
|
NM_000100.4(CSTB):c.155A>T (p.Asn52Ile)
|
rs541671661
|
0.00001
|
NM_000100.4(CSTB):c.160T>G (p.Phe54Val)
|
rs774291632
|
0.00001
|
NM_000100.4(CSTB):c.169-10C>G
|
rs1487271257
|
0.00001
|
NM_000100.4(CSTB):c.169G>T (p.Val57Leu)
|
rs796052394
|
0.00001
|
NM_000100.4(CSTB):c.16C>G (p.Pro6Ala)
|
rs1236504207
|
0.00001
|
NM_000100.4(CSTB):c.174C>T (p.His58=)
|
rs763095750
|
0.00001
|
NM_000100.4(CSTB):c.177C>T (p.Val59=)
|
rs765477010
|
0.00001
|
NM_000100.4(CSTB):c.184G>A (p.Glu62Lys)
|
rs147307021
|
0.00001
|
NM_000100.4(CSTB):c.196C>T (p.His66Tyr)
|
rs748818442
|
0.00001
|
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs)
|
rs1044894207
|
0.00001
|
NM_000100.4(CSTB):c.201G>A (p.Leu67=)
|
rs1249703879
|
0.00001
|
NM_000100.4(CSTB):c.213A>G (p.Gln71=)
|
rs758639236
|
0.00001
|
NM_000100.4(CSTB):c.243C>T (p.Thr81=)
|
rs2083999070
|
0.00001
|
NM_000100.4(CSTB):c.268G>A (p.Ala90Thr)
|
rs761504637
|
0.00001
|
NM_000100.4(CSTB):c.269C>G (p.Ala90Gly)
|
rs138337167
|
0.00001
|
NM_000100.4(CSTB):c.274C>T (p.His92Tyr)
|
rs796052393
|
0.00001
|
NM_000100.4(CSTB):c.27G>C (p.Thr9=)
|
rs945357152
|
0.00001
|
NM_000100.4(CSTB):c.28C>G (p.Gln10Glu)
|
rs1399970116
|
0.00001
|
NM_000100.4(CSTB):c.290A>G (p.Tyr97Cys)
|
rs1186810947
|
0.00001
|
NM_000100.4(CSTB):c.85G>A (p.Glu29Lys)
|
rs1358304104
|
0.00001
|
NM_004287.5(GOSR2):c.104A>G (p.Asn35Ser)
|
rs148962223
|
0.00001
|
NM_004287.5(GOSR2):c.10C>G (p.Leu4Val)
|
rs756276963
|
0.00001
|
NM_004287.5(GOSR2):c.128A>G (p.Gln43Arg)
|
rs772763319
|
0.00001
|
NM_004287.5(GOSR2):c.140G>A (p.Arg47His)
|
rs771228855
|
0.00001
|
NM_004287.5(GOSR2):c.14T>A (p.Phe5Tyr)
|
rs897281647
|
0.00001
|
NM_004287.5(GOSR2):c.154G>A (p.Glu52Lys)
|
rs1286041018
|
0.00001
|
NM_004287.5(GOSR2):c.170A>G (p.Lys57Arg)
|
rs1396367618
|
0.00001
|
NM_004287.5(GOSR2):c.177C>T (p.Pro59=)
|
rs1467890727
|
0.00001
|
NM_004287.5(GOSR2):c.17A>G (p.Gln6Arg)
|
rs749270151
|
0.00001
|
NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter)
|
rs1380954046
|
0.00001
|
NM_004287.5(GOSR2):c.186A>G (p.Lys62=)
|
rs755897636
|
0.00001
|
NM_004287.5(GOSR2):c.1A>G (p.Met1Val)
|
rs879328855
|
0.00001
|
NM_004287.5(GOSR2):c.205C>T (p.Arg69Trp)
|
rs770149230
|
0.00001
|
NM_004287.5(GOSR2):c.206G>C (p.Arg69Pro)
|
rs780211637
|
0.00001
|
NM_004287.5(GOSR2):c.237C>T (p.His79=)
|
rs1186777949
|
0.00001
|
NM_004287.5(GOSR2):c.247G>A (p.Ala83Thr)
|
rs920586501
|
0.00001
|
NM_004287.5(GOSR2):c.248C>T (p.Ala83Val)
|
rs577835455
|
0.00001
|
NM_004287.5(GOSR2):c.249G>A (p.Ala83=)
|
rs1057520593
|
0.00001
|
NM_004287.5(GOSR2):c.260T>C (p.Phe87Ser)
|
rs374912150
|
0.00001
|
NM_004287.5(GOSR2):c.266A>G (p.His89Arg)
|
rs1598989011
|
0.00001
|
NM_004287.5(GOSR2):c.28A>G (p.Lys10Glu)
|
rs1278419518
|
0.00001
|
NM_004287.5(GOSR2):c.29+15G>T
|
rs374396285
|
0.00001
|
NM_004287.5(GOSR2):c.29+3G>A
|
rs794726915
|
0.00001
|
NM_004287.5(GOSR2):c.30-15C>T
|
rs750704163
|
0.00001
|
NM_004287.5(GOSR2):c.301C>T (p.Arg101Ter)
|
rs764802895
|
0.00001
|
NM_004287.5(GOSR2):c.331A>G (p.Thr111Ala)
|
rs780448159
|
0.00001
|
NM_004287.5(GOSR2):c.336C>T (p.Asn112=)
|
rs755211944
|
0.00001
|
NM_004287.5(GOSR2):c.358A>G (p.Met120Val)
|
rs769454681
|
0.00001
|
NM_004287.5(GOSR2):c.364G>A (p.Glu122Lys)
|
rs374613085
|
0.00001
|
NM_004287.5(GOSR2):c.371T>C (p.Leu124Pro)
|
rs1189596801
|
0.00001
|
NM_004287.5(GOSR2):c.375G>A (p.Gln125=)
|
rs768238866
|
0.00001
|
NM_004287.5(GOSR2):c.39C>T (p.His13=)
|
rs747877774
|
0.00001
|
NM_004287.5(GOSR2):c.451C>G (p.Leu151Val)
|
rs756144831
|
0.00001
|
NM_004287.5(GOSR2):c.478-4C>G
|
rs777442803
|
0.00001
|
NM_004287.5(GOSR2):c.541C>G (p.Leu181Val)
|
rs772342696
|
0.00001
|
NM_004287.5(GOSR2):c.553C>T (p.Arg185Trp)
|
rs771037415
|
0.00001
|
NM_004287.5(GOSR2):c.55A>G (p.Met19Val)
|
rs770329469
|
0.00001
|
NM_004287.5(GOSR2):c.56T>C (p.Met19Thr)
|
rs374861039
|
0.00001
|
NM_004287.5(GOSR2):c.77A>G (p.Asp26Gly)
|
rs773543394
|
0.00001
|
NM_004287.5(GOSR2):c.94+12A>G
|
rs369271685
|
0.00001
|
NM_004287.5(GOSR2):c.94+15G>A
|
rs777596710
|
0.00001
|
NM_004287.5(GOSR2):c.94+4A>G
|
rs796052540
|
0.00001
|
NM_004287.5(GOSR2):c.95-7T>C
|
rs752611190
|
0.00001
|
NM_005506.4(SCARB2):c.1015T>C (p.Phe339Leu)
|
rs780194648
|
0.00001
|
NM_005506.4(SCARB2):c.1039G>A (p.Glu347Lys)
|
rs559054010
|
0.00001
|
NM_005506.4(SCARB2):c.1067T>C (p.Met356Thr)
|
rs1010410881
|
0.00001
|
NM_005506.4(SCARB2):c.1113+19C>G
|
rs1362440207
|
0.00001
|
NM_005506.4(SCARB2):c.114G>A (p.Glu38=)
|
rs534686738
|
0.00001
|
NM_005506.4(SCARB2):c.117+10G>A
|
rs760111311
|
0.00001
|
NM_005506.4(SCARB2):c.117+13G>A
|
rs1391392584
|
0.00001
|
NM_005506.4(SCARB2):c.117+14G>A
|
rs772998739
|
0.00001
|
NM_005506.4(SCARB2):c.117+15G>T
|
rs762251387
|
0.00001
|
NM_005506.4(SCARB2):c.118-3T>G
|
rs755638994
|
0.00001
|
NM_005506.4(SCARB2):c.1187+2dup
|
rs727502783
|
0.00001
|
NM_005506.4(SCARB2):c.1188-5T>C
|
rs775387526
|
0.00001
|
NM_005506.4(SCARB2):c.1193C>T (p.Thr398Met)
|
rs759493134
|
0.00001
|
NM_005506.4(SCARB2):c.1194G>A (p.Thr398=)
|
rs574498998
|
0.00001
|
NM_005506.4(SCARB2):c.1208C>T (p.Thr403Ile)
|
rs770343701
|
0.00001
|
NM_005506.4(SCARB2):c.1239+8C>G
|
rs369265725
|
0.00001
|
NM_005506.4(SCARB2):c.1240-9C>T
|
rs369557905
|
0.00001
|
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter)
|
rs886041078
|
0.00001
|
NM_005506.4(SCARB2):c.1282A>G (p.Met428Val)
|
rs746370059
|
0.00001
|
NM_005506.4(SCARB2):c.1302C>G (p.Ile434Met)
|
rs1035540343
|
0.00001
|
NM_005506.4(SCARB2):c.1327A>G (p.Met443Val)
|
rs376806999
|
0.00001
|
NM_005506.4(SCARB2):c.1329G>A (p.Met443Ile)
|
rs1232863838
|
0.00001
|
NM_005506.4(SCARB2):c.1331C>T (p.Ala444Val)
|
rs773957659
|
0.00001
|
NM_005506.4(SCARB2):c.1339G>C (p.Val447Leu)
|
rs1350213956
|
0.00001
|
NM_005506.4(SCARB2):c.1369G>C (p.Ala457Pro)
|
rs757381866
|
0.00001
|
NM_005506.4(SCARB2):c.1382_1383del (p.Gln461fs)
|
rs1233094134
|
0.00001
|
NM_005506.4(SCARB2):c.1399-8T>C
|
rs1731903272
|
0.00001
|
NM_005506.4(SCARB2):c.1403C>T (p.Thr468Ile)
|
rs796052948
|
0.00001
|
NM_005506.4(SCARB2):c.1416A>C (p.Arg472Ser)
|
rs1191433680
|
0.00001
|
NM_005506.4(SCARB2):c.1425C>T (p.Leu475=)
|
rs780985651
|
0.00001
|
NM_005506.4(SCARB2):c.147A>C (p.Ala49=)
|
rs764449103
|
0.00001
|
NM_005506.4(SCARB2):c.172C>T (p.Leu58=)
|
rs1051789209
|
0.00001
|
NM_005506.4(SCARB2):c.18C>T (p.Phe6=)
|
rs1733112720
|
0.00001
|
NM_005506.4(SCARB2):c.203A>G (p.Asn68Ser)
|
rs1394046858
|
0.00001
|
NM_005506.4(SCARB2):c.245G>A (p.Arg82Gln)
|
rs1422181706
|
0.00001
|
NM_005506.4(SCARB2):c.263C>T (p.Pro88Leu)
|
rs1732696835
|
0.00001
|
NM_005506.4(SCARB2):c.264A>G (p.Pro88=)
|
rs765664728
|
0.00001
|
NM_005506.4(SCARB2):c.276-17C>T
|
rs1732375088
|
0.00001
|
NM_005506.4(SCARB2):c.33G>T (p.Thr11=)
|
rs774721226
|
0.00001
|
NM_005506.4(SCARB2):c.350A>G (p.Tyr117Cys)
|
rs754341111
|
0.00001
|
NM_005506.4(SCARB2):c.377G>C (p.Gly126Ala)
|
rs776680365
|
0.00001
|
NM_005506.4(SCARB2):c.400A>C (p.Arg134=)
|
rs747696444
|
0.00001
|
NM_005506.4(SCARB2):c.423+7A>C
|
rs1380805649
|
0.00001
|
NM_005506.4(SCARB2):c.463A>G (p.Ile155Val)
|
rs772434203
|
0.00001
|
NM_005506.4(SCARB2):c.469G>A (p.Glu157Lys)
|
rs760128942
|
0.00001
|
NM_005506.4(SCARB2):c.579C>T (p.Pro193=)
|
rs148029250
|
0.00001
|
NM_005506.4(SCARB2):c.593A>G (p.Tyr198Cys)
|
rs1018285383
|
0.00001
|
NM_005506.4(SCARB2):c.612+5G>A
|
rs1019363350
|
0.00001
|
NM_005506.4(SCARB2):c.613-14T>G
|
rs1484418425
|
0.00001
|
NM_005506.4(SCARB2):c.638A>T (p.Tyr213Phe)
|
rs751953388
|
0.00001
|
NM_005506.4(SCARB2):c.664T>C (p.Tyr222His)
|
rs1732253776
|
0.00001
|
NM_005506.4(SCARB2):c.690A>G (p.Glu230=)
|
rs957776724
|
0.00001
|
NM_005506.4(SCARB2):c.704+17A>G
|
rs762520392
|
0.00001
|
NM_005506.4(SCARB2):c.704+1G>A
|
rs886041076
|
0.00001
|
NM_005506.4(SCARB2):c.704+5G>A
|
rs774271963
|
0.00001
|
NM_005506.4(SCARB2):c.705-20C>G
|
rs747460425
|
0.00001
|
NM_005506.4(SCARB2):c.705-7A>G
|
rs1217073681
|
0.00001
|
NM_005506.4(SCARB2):c.709C>G (p.Leu237Val)
|
rs200332825
|
0.00001
|
NM_005506.4(SCARB2):c.716G>T (p.Trp239Leu)
|
rs755176349
|
0.00001
|
NM_005506.4(SCARB2):c.766T>C (p.Phe256Leu)
|
rs1241257632
|
0.00001
|
NM_005506.4(SCARB2):c.787G>C (p.Asp263His)
|
rs759410840
|
0.00001
|
NM_005506.4(SCARB2):c.79C>T (p.Arg27Trp)
|
rs1466314804
|
0.00001
|
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter)
|
rs121909118
|
0.00001
|
NM_005506.4(SCARB2):c.866G>A (p.Gly289Glu)
|
rs777478545
|
0.00001
|
NM_005506.4(SCARB2):c.921C>T (p.Asp307=)
|
rs1732196836
|
0.00001
|
NM_005506.4(SCARB2):c.953G>T (p.Cys318Phe)
|
rs148780369
|
0.00001
|
NM_005670.4(EPM2A):c.120G>A (p.Leu40=)
|
rs1264709179
|
0.00001
|
NM_005670.4(EPM2A):c.145G>A (p.Asp49Asn)
|
rs1367012950
|
0.00001
|
NM_005670.4(EPM2A):c.149G>T (p.Gly50Val)
|
rs796052422
|
0.00001
|
NM_005670.4(EPM2A):c.170C>T (p.Pro57Leu)
|
rs1229724993
|
0.00001
|
NM_005670.4(EPM2A):c.181C>G (p.Leu61Val)
|
rs563875151
|
0.00001
|
NM_005670.4(EPM2A):c.18G>A (p.Gly6=)
|
rs1432262857
|
0.00001
|
NM_005670.4(EPM2A):c.193G>A (p.Glu65Lys)
|
rs796052425
|
0.00001
|
NM_005670.4(EPM2A):c.210G>A (p.Glu70=)
|
rs878854780
|
0.00001
|
NM_005670.4(EPM2A):c.212C>A (p.Ala71Glu)
|
rs1263035227
|
0.00001
|
NM_005670.4(EPM2A):c.215C>T (p.Ala72Val)
|
rs1284392729
|
0.00001
|
NM_005670.4(EPM2A):c.223G>A (p.Gly75Arg)
|
rs1184012721
|
0.00001
|
NM_005670.4(EPM2A):c.237C>T (p.Gly79=)
|
rs755339527
|
0.00001
|
NM_005670.4(EPM2A):c.252C>T (p.Phe84=)
|
rs1362231306
|
0.00001
|
NM_005670.4(EPM2A):c.262T>C (p.Phe88Leu)
|
rs1463000703
|
0.00001
|
NM_005670.4(EPM2A):c.271C>T (p.Arg91Trp)
|
rs752244019
|
0.00001
|
NM_005670.4(EPM2A):c.272G>A (p.Arg91Gln)
|
rs767203075
|
0.00001
|
NM_005670.4(EPM2A):c.278C>T (p.Pro93Leu)
|
rs1239406349
|
0.00001
|
NM_005670.4(EPM2A):c.279G>A (p.Pro93=)
|
rs370423440
|
0.00001
|
NM_005670.4(EPM2A):c.289C>G (p.Leu97Val)
|
rs1398721266
|
0.00001
|
NM_005670.4(EPM2A):c.301+16G>A
|
rs1286855280
|
0.00001
|
NM_005670.4(EPM2A):c.301+1G>T
|
rs1361221383
|
0.00001
|
NM_005670.4(EPM2A):c.301+4T>C
|
rs761970395
|
0.00001
|
NM_005670.4(EPM2A):c.301+5T>C
|
rs776655093
|
0.00001
|
NM_005670.4(EPM2A):c.302-1G>C
|
rs369463720
|
0.00001
|
NM_005670.4(EPM2A):c.305A>G (p.Asn102Ser)
|
rs1448945231
|
0.00001
|
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)
|
rs137852915
|
0.00001
|
NM_005670.4(EPM2A):c.323G>A (p.Arg108His)
|
rs202234583
|
0.00001
|
NM_005670.4(EPM2A):c.332C>G (p.Thr111Ser)
|
rs1480939817
|
0.00001
|
NM_005670.4(EPM2A):c.335A>G (p.Tyr112Cys)
|
rs757199020
|
0.00001
|
NM_005670.4(EPM2A):c.36C>T (p.Ala12=)
|
rs1287653139
|
0.00001
|
NM_005670.4(EPM2A):c.397A>G (p.Thr133Ala)
|
rs773728573
|
0.00001
|
NM_005670.4(EPM2A):c.427A>G (p.Thr143Ala)
|
rs144204777
|
0.00001
|
NM_005670.4(EPM2A):c.437A>T (p.Tyr146Phe)
|
rs1780893400
|
0.00001
|
NM_005670.4(EPM2A):c.43G>A (p.Gly15Ser)
|
rs1310207444
|
0.00001
|
NM_005670.4(EPM2A):c.449C>T (p.Ala150Val)
|
rs753781421
|
0.00001
|
NM_005670.4(EPM2A):c.477-14T>C
|
rs914299630
|
0.00001
|
NM_005670.4(EPM2A):c.477-15A>G
|
rs542654431
|
0.00001
|
NM_005670.4(EPM2A):c.496C>G (p.Leu166Val)
|
rs147645370
|
0.00001
|
NM_005670.4(EPM2A):c.511C>T (p.Arg171Cys)
|
rs371974399
|
0.00001
|
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)
|
rs137852916
|
0.00001
|
NM_005670.4(EPM2A):c.524A>G (p.His175Arg)
|
rs1264840627
|
0.00001
|
NM_005670.4(EPM2A):c.569T>A (p.Met190Lys)
|
rs191406622
|
0.00001
|
NM_005670.4(EPM2A):c.600G>T (p.Gln200His)
|
rs142658692
|
0.00001
|
NM_005670.4(EPM2A):c.619C>T (p.Arg207Cys)
|
rs186710183
|
0.00001
|
NM_005670.4(EPM2A):c.666G>A (p.Arg222=)
|
rs762189100
|
0.00001
|
NM_005670.4(EPM2A):c.676T>G (p.Leu226Val)
|
rs754313309
|
0.00001
|
NM_005670.4(EPM2A):c.70G>T (p.Gly24Trp)
|
rs1554269710
|
0.00001
|
NM_005670.4(EPM2A):c.714C>T (p.Thr238=)
|
rs762653955
|
0.00001
|
NM_005670.4(EPM2A):c.719-2A>T
|
rs772082648
|
0.00001
|
NM_005670.4(EPM2A):c.719-5C>T
|
rs768538455
|
0.00001
|
NM_005670.4(EPM2A):c.726A>G (p.Val242=)
|
rs1485448690
|
0.00001
|
NM_005670.4(EPM2A):c.744G>A (p.Ala248=)
|
rs538717552
|
0.00001
|
NM_005670.4(EPM2A):c.774G>A (p.Lys258=)
|
rs1014840416
|
0.00001
|
NM_005670.4(EPM2A):c.813C>T (p.Gly271=)
|
rs1162902926
|
0.00001
|
NM_005670.4(EPM2A):c.814C>T (p.Arg272Cys)
|
rs765820100
|
0.00001
|
NM_005670.4(EPM2A):c.822C>T (p.Thr274=)
|
rs763812238
|
0.00001
|
NM_005670.4(EPM2A):c.824C>T (p.Ala275Val)
|
rs1027738243
|
0.00001
|
NM_005670.4(EPM2A):c.834C>T (p.Cys278=)
|
rs759427349
|
0.00001
|
NM_005670.4(EPM2A):c.927C>G (p.Ala309=)
|
rs1181128980
|
0.00001
|
NM_005670.4(EPM2A):c.935G>A (p.Arg312Gln)
|
rs762852066
|
0.00001
|
NM_005670.4(EPM2A):c.937G>A (p.Ala313Thr)
|
rs189479757
|
0.00001
|
NM_005670.4(EPM2A):c.970G>T (p.Val324Phe)
|
rs941854726
|
0.00001
|
NM_005670.4(EPM2A):c.973C>T (p.Arg325Cys)
|
rs746413047
|
0.00001
|
NM_005670.4(EPM2A):c.974G>A (p.Arg325His)
|
rs777308612
|
0.00001
|
NC_000004.11:g.(?_76481293)_(77700330_?)del
|
|
|
NC_000004.11:g.(?_77082846)_(77102274_?)dup
|
|
|
NC_000004.11:g.(?_77082866)_(77102264_?)del
|
|
|
NC_000004.11:g.(?_77082866)_(77102274_?)dup
|
|
|
NC_000004.11:g.(?_77116840)_(77134696_?)dup
|
|
|
NC_000004.11:g.(?_77116840)_(77134716_?)dup
|
|
|
NC_000004.11:g.(?_77116850)_(77134696_?)dup
|
|
|
NC_000004.12:g.76163382CT[1]
|
|
|
NC_000006.11:g.(?_145948552)_(145956642_?)del
|
|
|
NC_000006.11:g.(?_146056334)_(146056634_?)del
|
|
|
NC_000006.12:g.(?_145625675)_(145635506_?)del
|
|
|
NC_000006.12:g.(?_145686102)_(145686316_?)del
|
|
|
NC_000017.10:g.(?_44845686)_(45016126_?)del
|
|
|
NC_000017.10:g.(?_44845686)_(45016126_?)dup
|
|
|
NC_000017.10:g.(?_45000559)_(45016126_?)dup
|
|
|
NC_000017.11:g.(?_46923173)_(46940633_?)del
|
|
|
NC_000021.8:g.(?_43160998)_(47754702_?)del
|
|
|
NC_000021.8:g.(?_44838120)_(45629566_?)del
|
|
|
NC_000021.8:g.(?_44838120)_(45629566_?)dup
|
|
|
NC_000021.8:g.(?_44838130)_(45196150_?)dup
|
|
|
NC_000021.8:g.(?_45194063)_(45196170_?)dup
|
|
|
NC_000021.8:g.(?_45194083)_(45196150_?)del
|
|
|
NC_000021.9:g.(?_43772665)_(43777375_?)dup
|
|
|
NM_000100.4(CSTB):c.100A>G (p.Lys34Glu)
|
rs2084002121
|
|
NM_000100.4(CSTB):c.106C>T (p.Pro36Ser)
|
rs748162136
|
|
NM_000100.4(CSTB):c.111G>A (p.Val37=)
|
|
|
NM_000100.4(CSTB):c.113T>A (p.Phe38Tyr)
|
rs1365612504
|
|
NM_000100.4(CSTB):c.116A>G (p.Lys39Arg)
|
|
|
NM_000100.4(CSTB):c.121del (p.Val41fs)
|
rs1257171692
|
|
NM_000100.4(CSTB):c.12G>A (p.Gly4=)
|
rs1555888494
|
|
NM_000100.4(CSTB):c.137A>G (p.Gln46Arg)
|
|
|
NM_000100.4(CSTB):c.139G>C (p.Val47Leu)
|
rs140799752
|
|
NM_000100.4(CSTB):c.140T>G (p.Val47Gly)
|
rs2084001744
|
|
NM_000100.4(CSTB):c.144C>T (p.Val48=)
|
|
|
NM_000100.4(CSTB):c.145del (p.Ala49fs)
|
|
|
NM_000100.4(CSTB):c.146C>A (p.Ala49Glu)
|
rs754421704
|
|
NM_000100.4(CSTB):c.15G>A (p.Ala5=)
|
|
|
NM_000100.4(CSTB):c.168+19G>T
|
|
|
NM_000100.4(CSTB):c.168+5A>G
|
|
|
NM_000100.4(CSTB):c.168+6G>C
|
|
|
NM_000100.4(CSTB):c.168+7T>C
|
|
|
NM_000100.4(CSTB):c.168+8G>A
|
rs556221258
|
|
NM_000100.4(CSTB):c.169-13G>A
|
|
|
NM_000100.4(CSTB):c.169G>A (p.Val57Met)
|
rs796052394
|
|
NM_000100.4(CSTB):c.172C>T (p.His58Tyr)
|
rs2083999686
|
|
NM_000100.4(CSTB):c.17C>T (p.Pro6Leu)
|
|
|
NM_000100.4(CSTB):c.189C>G (p.Asp63Glu)
|
|
|
NM_000100.4(CSTB):c.191T>G (p.Phe64Cys)
|
rs1569005540
|
|
NM_000100.4(CSTB):c.193G>A (p.Val65Ile)
|
rs570768038
|
|
NM_000100.4(CSTB):c.193G>C (p.Val65Leu)
|
rs570768038
|
|
NM_000100.4(CSTB):c.200_203dup (p.Val69fs)
|
rs1601855887
|
|
NM_000100.4(CSTB):c.203G>C (p.Arg68Pro)
|
rs757707761
|
|
NM_000100.4(CSTB):c.207G>T (p.Val69=)
|
|
|
NM_000100.4(CSTB):c.214T>C (p.Ser72Pro)
|
rs796052392
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000100.4(CSTB):c.21C>A (p.Ser7=)
|
rs748254497
|
|
NM_000100.4(CSTB):c.232A>C (p.Lys78Gln)
|
rs2083999131
|
|
NM_000100.4(CSTB):c.246A>G (p.Leu82=)
|
rs2123385440
|
|
NM_000100.4(CSTB):c.251_254del (p.Asn84fs)
|
rs1555888363
|
|
NM_000100.4(CSTB):c.26C>A (p.Thr9Lys)
|
rs778785343
|
|
NM_000100.4(CSTB):c.273G>A (p.Lys91=)
|
rs540215875
|
|
NM_000100.4(CSTB):c.294C>T (p.Phe98=)
|
rs2123385381
|
|
NM_000100.4(CSTB):c.295T>C (p.Ter99Arg)
|
rs2083998796
|
|
NM_000100.4(CSTB):c.31C>T (p.Pro11Ser)
|
rs2084009509
|
|
NM_000100.4(CSTB):c.33G>A (p.Pro11=)
|
rs2123387882
|
|
NM_000100.4(CSTB):c.34G>A (p.Ala12Thr)
|
|
|
NM_000100.4(CSTB):c.39C>G (p.Thr13=)
|
rs1419893626
|
|
NM_000100.4(CSTB):c.42C>G (p.Ala14=)
|
rs2123387857
|
|
NM_000100.4(CSTB):c.47C>T (p.Thr16Ile)
|
rs2084009370
|
|
NM_000100.4(CSTB):c.55A>G (p.Ile19Val)
|
rs1349028244
|
|
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)
|
rs1569006250
|
|
NM_000100.4(CSTB):c.66+10C>A
|
|
|
NM_000100.4(CSTB):c.66+11C>T
|
|
|
NM_000100.4(CSTB):c.66+14G>A
|
|
|
NM_000100.4(CSTB):c.66+15G>C
|
|
|
NM_000100.4(CSTB):c.66+20G>C
|
rs1197240747
|
|
NM_000100.4(CSTB):c.66+3G>C
|
|
|
NM_000100.4(CSTB):c.67-4C>G
|
rs2084002305
|
|
NM_000100.4(CSTB):c.96_98del (p.Asn32del)
|
rs750620672
|
|
NM_000100.4(CSTB):c.9C>G (p.Cys3Trp)
|
rs555930471
|
|
NM_004287.5(GOSR2):c.101A>G (p.Glu34Gly)
|
rs1598980284
|
|
NM_004287.5(GOSR2):c.103A>G (p.Asn35Asp)
|
rs2087304609
|
|
NM_004287.5(GOSR2):c.106G>A (p.Glu36Lys)
|
|
|
NM_004287.5(GOSR2):c.10C>T (p.Leu4=)
|
|
|
NM_004287.5(GOSR2):c.121A>G (p.Ile41Val)
|
|
|
NM_004287.5(GOSR2):c.122T>C (p.Ile41Thr)
|
rs2087307019
|
|
NM_004287.5(GOSR2):c.136A>G (p.Ser46Gly)
|
rs534119817
|
|
NM_004287.5(GOSR2):c.15C>G (p.Phe5Leu)
|
rs2085950798
|
|
NM_004287.5(GOSR2):c.15C>T (p.Phe5=)
|
|
|
NM_004287.5(GOSR2):c.161del (p.Leu54fs)
|
rs2146892080
|
|
NM_004287.5(GOSR2):c.162G>T (p.Leu54Phe)
|
|
|
NM_004287.5(GOSR2):c.167G>T (p.Ser56Ile)
|
rs751458272
|
|
NM_004287.5(GOSR2):c.169A>G (p.Lys57Glu)
|
|
|
NM_004287.5(GOSR2):c.16C>T (p.Gln6Ter)
|
rs2146691974
|
|
NM_004287.5(GOSR2):c.176C>T (p.Pro59Leu)
|
rs1252615412
|
|
NM_004287.5(GOSR2):c.186_187del (p.Arg63fs)
|
|
|
NM_004287.5(GOSR2):c.199_200delinsCA (p.Arg67Gln)
|
rs1555709548
|
|
NM_004287.5(GOSR2):c.203+17G>T
|
|
|
NM_004287.5(GOSR2):c.203+8C>G
|
|
|
NM_004287.5(GOSR2):c.204-17C>G
|
|
|
NM_004287.5(GOSR2):c.204-1G>T
|
rs1187190721
|
|
NM_004287.5(GOSR2):c.204-8A>C
|
|
|
NM_004287.5(GOSR2):c.204-9C>T
|
|
|
NM_004287.5(GOSR2):c.205C>A (p.Arg69=)
|
rs770149230
|
|
NM_004287.5(GOSR2):c.206G>A (p.Arg69Gln)
|
rs780211637
|
|
NM_004287.5(GOSR2):c.20A>G (p.Gln7Arg)
|
rs2085951116
|
|
NM_004287.5(GOSR2):c.210del (p.Asp71fs)
|
rs2146911959
|
|
NM_004287.5(GOSR2):c.213C>A (p.Asp71Glu)
|
rs199930484
|
|
NM_004287.5(GOSR2):c.219A>G (p.Leu73=)
|
|
|
NM_004287.5(GOSR2):c.221dup (p.Tyr75fs)
|
|
|
NM_004287.5(GOSR2):c.226G>C (p.Asp76His)
|
rs2146912195
|
|
NM_004287.5(GOSR2):c.22dup (p.Thr8fs)
|
rs746855352
|
|
NM_004287.5(GOSR2):c.235C>T (p.His79Tyr)
|
rs1568171907
|
|
NM_004287.5(GOSR2):c.251T>C (p.Leu84Pro)
|
rs2087482910
|
|
NM_004287.5(GOSR2):c.258C>G (p.Asn86Lys)
|
rs1598988935
|
|
NM_004287.5(GOSR2):c.262C>T (p.Gln88Ter)
|
|
|
NM_004287.5(GOSR2):c.262del (p.Gln88fs)
|
rs776869841
|
|
NM_004287.5(GOSR2):c.271C>T (p.Arg91Cys)
|
rs2087485301
|
|
NM_004287.5(GOSR2):c.278C>T (p.Ala93Val)
|
rs2146913099
|
|
NM_004287.5(GOSR2):c.283G>A (p.Glu95Lys)
|
rs2146913169
|
|
NM_004287.5(GOSR2):c.285G>C (p.Glu95Asp)
|
rs2146913197
|
|
NM_004287.5(GOSR2):c.29+13C>A
|
|
|
NM_004287.5(GOSR2):c.29+17G>A
|
|
|
NM_004287.5(GOSR2):c.298C>A (p.Gln100Lys)
|
rs759305157
|
|
NM_004287.5(GOSR2):c.30-10C>T
|
rs2146849887
|
|
NM_004287.5(GOSR2):c.30-10_30-7del
|
|
|
NM_004287.5(GOSR2):c.30-12T>C
|
|
|
NM_004287.5(GOSR2):c.30-20C>T
|
|
|
NM_004287.5(GOSR2):c.30-4A>G
|
|
|
NM_004287.5(GOSR2):c.30-7T>A
|
rs2146850100
|
|
NM_004287.5(GOSR2):c.30-8T>A
|
rs925439682
|
|
NM_004287.5(GOSR2):c.300G>A (p.Gln100=)
|
|
|
NM_004287.5(GOSR2):c.300G>C (p.Gln100His)
|
rs2087488656
|
|
NM_004287.5(GOSR2):c.302G>A (p.Arg101Gln)
|
|
|
NM_004287.5(GOSR2):c.31C>G (p.Gln11Glu)
|
rs2146850344
|
|
NM_004287.5(GOSR2):c.320G>C (p.Arg107Pro)
|
rs750960207
|
|
NM_004287.5(GOSR2):c.336+17G>T
|
rs2146914624
|
|
NM_004287.5(GOSR2):c.336+20A>C
|
|
|
NM_004287.5(GOSR2):c.336+7C>A
|
|
|
NM_004287.5(GOSR2):c.337-13_337-12del
|
|
|
NM_004287.5(GOSR2):c.337-2A>G
|
rs1568177307
|
|
NM_004287.5(GOSR2):c.337-6dup
|
rs2146971287
|
|
NM_004287.5(GOSR2):c.350C>T (p.Thr117Ile)
|
rs1599019391
|
|
NM_004287.5(GOSR2):c.354A>G (p.Ile118Met)
|
|
|
NM_004287.5(GOSR2):c.363C>T (p.Asp121=)
|
rs886053078
|
|
NM_004287.5(GOSR2):c.374A>G (p.Gln125Arg)
|
|
|
NM_004287.5(GOSR2):c.380A>G (p.Asn127Ser)
|
|
|
NM_004287.5(GOSR2):c.381C>T (p.Asn127=)
|
rs761272920
|
|
NM_004287.5(GOSR2):c.383C>A (p.Ser128Tyr)
|
|
|
NM_004287.5(GOSR2):c.390C>T (p.Leu130=)
|
|
|
NM_004287.5(GOSR2):c.397G>A (p.Val133Ile)
|
|
|
NM_004287.5(GOSR2):c.3G>A (p.Met1Ile)
|
rs1174104260
|
|
NM_004287.5(GOSR2):c.3G>T (p.Met1Ile)
|
|
|
NM_004287.5(GOSR2):c.406G>A (p.Gly136Ser)
|
|
|
NM_004287.5(GOSR2):c.428A>T (p.Asp143Val)
|
rs2088079257
|
|
NM_004287.5(GOSR2):c.432_449del (p.His145_Gly150del)
|
rs1381386644
|
|
NM_004287.5(GOSR2):c.435C>T (p.His145=)
|
rs1599020227
|
|
NM_004287.5(GOSR2):c.437A>G (p.Asn146Ser)
|
|
|
NM_004287.5(GOSR2):c.439A>G (p.Ile147Val)
|
rs757363374
|
|
NM_004287.5(GOSR2):c.446A>G (p.Asp149Gly)
|
rs2088083666
|
|
NM_004287.5(GOSR2):c.460_461dup (p.Gln154fs)
|
|
|
NM_004287.5(GOSR2):c.477+19del
|
rs755765859
|
|
NM_004287.5(GOSR2):c.477+6G>T
|
rs1568177911
|
|
NM_004287.5(GOSR2):c.478-14C>T
|
rs1203026971
|
|
NM_004287.5(GOSR2):c.478-6C>T
|
|
|
NM_004287.5(GOSR2):c.478-7_478-6insAGAACAGAAG
|
|
|
NM_004287.5(GOSR2):c.478G>C (p.Gly160Arg)
|
|
|
NM_004287.5(GOSR2):c.47A>C (p.Gln16Pro)
|
rs746688685
|
|
NM_004287.5(GOSR2):c.480G>T (p.Gly160=)
|
|
|
NM_004287.5(GOSR2):c.494T>C (p.Ile165Thr)
|
|
|
NM_004287.5(GOSR2):c.4G>A (p.Asp2Asn)
|
rs1425442098
|
|
NM_004287.5(GOSR2):c.506C>G (p.Ala169Gly)
|
rs2088814830
|
|
NM_004287.5(GOSR2):c.50C>T (p.Ser17Phe)
|
|
|
NM_004287.5(GOSR2):c.524C>A (p.Ser175Tyr)
|
|
|
NM_004287.5(GOSR2):c.525C>T (p.Ser175=)
|
rs2147050274
|
|
NM_004287.5(GOSR2):c.528C>T (p.Asn176=)
|
rs2088817717
|
|
NM_004287.5(GOSR2):c.539G>A (p.Arg180Gln)
|
rs1348639194
|
|
NM_004287.5(GOSR2):c.557_584del (p.Ala186fs)
|
rs796052541
|
|
NM_004287.5(GOSR2):c.568A>G (p.Lys190Glu)
|
rs765094724
|
|
NM_004287.5(GOSR2):c.578T>C (p.Met193Thr)
|
rs1328118330
|
|
NM_004287.5(GOSR2):c.596T>C (p.Leu199Pro)
|
|
|
NM_004287.5(GOSR2):c.609C>T (p.Val203=)
|
|
|
NM_004287.5(GOSR2):c.611T>G (p.Met204Arg)
|
rs2147051685
|
|
NM_004287.5(GOSR2):c.618C>T (p.Leu206=)
|
|
|
NM_004287.5(GOSR2):c.619G>T (p.Val207Leu)
|
rs780839289
|
|
NM_004287.5(GOSR2):c.631C>T (p.Leu211=)
|
rs2147052221
|
|
NM_004287.5(GOSR2):c.634A>G (p.Thr212Ala)
|
rs956070241
|
|
NM_004287.5(GOSR2):c.639A>G (p.Ter213Trp)
|
rs2147052419
|
|
NM_004287.5(GOSR2):c.6T>A (p.Asp2Glu)
|
|
|
NM_004287.5(GOSR2):c.6T>C (p.Asp2=)
|
rs757594881
|
|
NM_004287.5(GOSR2):c.79A>C (p.Lys27Gln)
|
rs760997502
|
|
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr)
|
rs12944167
|
|
NM_004287.5(GOSR2):c.7C>G (p.Pro3Ala)
|
rs12944167
|
|
NM_004287.5(GOSR2):c.7C>T (p.Pro3Ser)
|
rs12944167
|
|
NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter)
|
rs1466441723
|
|
NM_004287.5(GOSR2):c.89_90del (p.Val30fs)
|
rs1330994397
|
|
NM_004287.5(GOSR2):c.92A>G (p.His31Arg)
|
|
|
NM_004287.5(GOSR2):c.94+12A>T
|
|
|
NM_004287.5(GOSR2):c.94+16_94+17del
|
rs780992578
|
|
NM_004287.5(GOSR2):c.94A>G (p.Ile32Val)
|
rs2086996915
|
|
NM_004287.5(GOSR2):c.95-17T>C
|
rs553054493
|
|
NM_004287.5(GOSR2):c.95-1G>C
|
rs1186314496
|
|
NM_004287.5(GOSR2):c.95-6G>T
|
rs1345182096
|
|
NM_004287.5(GOSR2):c.95-7T>G
|
rs752611190
|
|
NM_004287.5(GOSR2):c.96A>G (p.Ile32Met)
|
rs2146890867
|
|
NM_004287.5(GOSR2):c.99A>G (p.Val33=)
|
rs1555709339
|
|
NM_004287.5(GOSR2):c.9C>G (p.Pro3=)
|
rs750589437
|
|
NM_005506.4(SCARB2):c.1002dup (p.Ile335fs)
|
rs780638384
|
|
NM_005506.4(SCARB2):c.1005C>T (p.Ile335=)
|
|
|
NM_005506.4(SCARB2):c.1014T>G (p.Ser338=)
|
rs1732095676
|
|
NM_005506.4(SCARB2):c.1026T>C (p.Phe342=)
|
|
|
NM_005506.4(SCARB2):c.1030C>T (p.Gln344Ter)
|
|
|
NM_005506.4(SCARB2):c.1034C>A (p.Ala345Glu)
|
|
|
NM_005506.4(SCARB2):c.1043G>A (p.Arg348Lys)
|
rs1435706864
|
|
NM_005506.4(SCARB2):c.1056C>A (p.Ala352=)
|
|
|
NM_005506.4(SCARB2):c.105G>T (p.Gln35His)
|
|
|
NM_005506.4(SCARB2):c.1066A>C (p.Met356Leu)
|
|
|
NM_005506.4(SCARB2):c.1086C>T (p.Asp362=)
|
rs1238674003
|
|
NM_005506.4(SCARB2):c.1097T>C (p.Phe366Ser)
|
rs1374602411
|
|
NM_005506.4(SCARB2):c.1107T>A (p.Ile369=)
|
rs2109937710
|
|
NM_005506.4(SCARB2):c.1113+16C>T
|
|
|
NM_005506.4(SCARB2):c.1113+1G>T
|
rs2109937707
|
|
NM_005506.4(SCARB2):c.1114-15T>C
|
|
|
NM_005506.4(SCARB2):c.1114-18C>T
|
|
|
NM_005506.4(SCARB2):c.1114-19T>G
|
|
|
NM_005506.4(SCARB2):c.1114-3C>T
|
rs1560705500
|
|
NM_005506.4(SCARB2):c.1118C>T (p.Thr373Ile)
|
rs1732061373
|
|
NM_005506.4(SCARB2):c.1119T>G (p.Thr373=)
|
|
|
NM_005506.4(SCARB2):c.1142A>G (p.Lys381Arg)
|
|
|
NM_005506.4(SCARB2):c.1161T>C (p.Ile387=)
|
|
|
NM_005506.4(SCARB2):c.1164T>C (p.Tyr388=)
|
rs777550966
|
|
NM_005506.4(SCARB2):c.117+3G>A
|
rs1733107604
|
|
NM_005506.4(SCARB2):c.117+6G>C
|
rs2109974158
|
|
NM_005506.4(SCARB2):c.1172A>C (p.Lys391Thr)
|
rs1732060256
|
|
NM_005506.4(SCARB2):c.1179T>C (p.Asp393=)
|
rs2109936359
|
|
NM_005506.4(SCARB2):c.118-10T>G
|
rs1188258340
|
|
NM_005506.4(SCARB2):c.118-7T>C
|
rs190362739
|
|
NM_005506.4(SCARB2):c.1182C>T (p.Asp394=)
|
|
|
NM_005506.4(SCARB2):c.1187+10G>C
|
|
|
NM_005506.4(SCARB2):c.1187+13T>C
|
|
|
NM_005506.4(SCARB2):c.1187+20A>G
|
|
|
NM_005506.4(SCARB2):c.1188-11del
|
rs796052945
|
|
NM_005506.4(SCARB2):c.1188-15C>T
|
rs1480025542
|
|
NM_005506.4(SCARB2):c.1188-19T>G
|
|
|
NM_005506.4(SCARB2):c.1188-3T>C
|
rs1251392642
|
|
NM_005506.4(SCARB2):c.11G>A (p.Cys4Tyr)
|
rs1196467385
|
|
NM_005506.4(SCARB2):c.1201A>G (p.Ile401Val)
|
rs1405139421
|
|
NM_005506.4(SCARB2):c.1224G>A (p.Val408=)
|
rs1803391
|
|
NM_005506.4(SCARB2):c.1229A>T (p.Tyr410Phe)
|
rs777270813
|
|
NM_005506.4(SCARB2):c.1233C>G (p.Leu411=)
|
|
|
NM_005506.4(SCARB2):c.1239+12G>A
|
|
|
NM_005506.4(SCARB2):c.1239+14_1239+17dup
|
|
|
NM_005506.4(SCARB2):c.1239+15G>A
|
|
|
NM_005506.4(SCARB2):c.1240-15T>G
|
rs2109931990
|
|
NM_005506.4(SCARB2):c.1240-2A>G
|
|
|
NM_005506.4(SCARB2):c.1240-4C>T
|
|
|
NM_005506.4(SCARB2):c.1240-6C>G
|
|
|
NM_005506.4(SCARB2):c.1242T>C (p.Ser414=)
|
|
|
NM_005506.4(SCARB2):c.1245T>G (p.Val415=)
|
rs1262722686
|
|
NM_005506.4(SCARB2):c.1249A>T (p.Ile417Phe)
|
|
|
NM_005506.4(SCARB2):c.1260_1261dup (p.Thr421fs)
|
|
|
NM_005506.4(SCARB2):c.1275G>A (p.Leu425=)
|
|
|
NM_005506.4(SCARB2):c.127T>C (p.Leu43=)
|
|
|
NM_005506.4(SCARB2):c.1283T>C (p.Met428Thr)
|
rs2109931937
|
|
NM_005506.4(SCARB2):c.12C>T (p.Cys4=)
|
|
|
NM_005506.4(SCARB2):c.1305C>T (p.Ile435=)
|
|
|
NM_005506.4(SCARB2):c.1307C>T (p.Thr436Ile)
|
rs1731937544
|
|
NM_005506.4(SCARB2):c.1312A>G (p.Ile438Val)
|
|
|
NM_005506.4(SCARB2):c.1313T>C (p.Ile438Thr)
|
|
|
NM_005506.4(SCARB2):c.1317C>G (p.Pro439=)
|
rs1731937017
|
|
NM_005506.4(SCARB2):c.1319A>G (p.Tyr440Cys)
|
|
|
NM_005506.4(SCARB2):c.1365G>C (p.Trp455Cys)
|
rs995674389
|
|
NM_005506.4(SCARB2):c.1369G>A (p.Ala457Thr)
|
|
|
NM_005506.4(SCARB2):c.1371A>C (p.Ala457=)
|
|
|
NM_005506.4(SCARB2):c.1373G>T (p.Cys458Phe)
|
rs1578712032
|
|
NM_005506.4(SCARB2):c.1378G>A (p.Gly460Arg)
|
|
|
NM_005506.4(SCARB2):c.1386A>T (p.Gly462=)
|
rs1315496558
|
|
NM_005506.4(SCARB2):c.1393G>A (p.Asp465Asn)
|
rs1238888097
|
|
NM_005506.4(SCARB2):c.1398+10_1398+22del
|
rs778683141
|
|
NM_005506.4(SCARB2):c.1398+8C>A
|
rs755919906
|
|
NM_005506.4(SCARB2):c.1398+8C>T
|
rs755919906
|
|
NM_005506.4(SCARB2):c.1399-11C>G
|
rs1392686046
|
|
NM_005506.4(SCARB2):c.1399-13T>C
|
|
|
NM_005506.4(SCARB2):c.1399-15T>A
|
|
|
NM_005506.4(SCARB2):c.1399-16C>G
|
|
|
NM_005506.4(SCARB2):c.140C>T (p.Thr47Ile)
|
rs1732700794
|
|
NM_005506.4(SCARB2):c.1412A>T (p.Glu471Val)
|
rs755903502
|
|
NM_005506.4(SCARB2):c.141T>C (p.Thr47=)
|
rs2109960926
|
|
NM_005506.4(SCARB2):c.1430G>A (p.Arg477Gln)
|
rs1480481844
|
|
NM_005506.4(SCARB2):c.1432del (p.Thr478fs)
|
rs756112626
|
|
NM_005506.4(SCARB2):c.1433C>A (p.Thr478Asn)
|
rs2109930564
|
|
NM_005506.4(SCARB2):c.147A>G (p.Ala49=)
|
rs764449103
|
|
NM_005506.4(SCARB2):c.160G>A (p.Glu54Lys)
|
|
|
NM_005506.4(SCARB2):c.166C>T (p.Pro56Ser)
|
rs2109960897
|
|
NM_005506.4(SCARB2):c.172C>G (p.Leu58Val)
|
|
|
NM_005506.4(SCARB2):c.178G>T (p.Val60Leu)
|
rs1287892295
|
|
NM_005506.4(SCARB2):c.201C>T (p.Phe67=)
|
rs749098073
|
|
NM_005506.4(SCARB2):c.204T>C (p.Asn68=)
|
|
|
NM_005506.4(SCARB2):c.212A>G (p.Asn71Ser)
|
|
|
NM_005506.4(SCARB2):c.21C>T (p.Tyr7=)
|
rs1259404552
|
|
NM_005506.4(SCARB2):c.223A>T (p.Ile75Phe)
|
rs1560716099
|
|
NM_005506.4(SCARB2):c.226del (p.Leu76fs)
|
|
|
NM_005506.4(SCARB2):c.228C>G (p.Leu76=)
|
rs35069772
|
|
NM_005506.4(SCARB2):c.231A>T (p.Arg77Ser)
|
|
|
NM_005506.4(SCARB2):c.232G>A (p.Gly78Arg)
|
|
|
NM_005506.4(SCARB2):c.234G>C (p.Gly78=)
|
|
|
NM_005506.4(SCARB2):c.235del (p.Glu79fs)
|
rs1732698125
|
|
NM_005506.4(SCARB2):c.237G>C (p.Glu79Asp)
|
rs1348033527
|
|
NM_005506.4(SCARB2):c.245G>T (p.Arg82Leu)
|
rs1422181706
|
|
NM_005506.4(SCARB2):c.249G>A (p.Val83=)
|
|
|
NM_005506.4(SCARB2):c.251A>G (p.Glu84Gly)
|
|
|
NM_005506.4(SCARB2):c.256G>A (p.Val86Met)
|
rs1732697033
|
|
NM_005506.4(SCARB2):c.268A>C (p.Thr90Pro)
|
rs1732696609
|
|
NM_005506.4(SCARB2):c.275+12C>A
|
|
|
NM_005506.4(SCARB2):c.276-10T>G
|
|
|
NM_005506.4(SCARB2):c.276-7_276-5del
|
|
|
NM_005506.4(SCARB2):c.299T>C (p.Ile100Thr)
|
rs2109948743
|
|
NM_005506.4(SCARB2):c.303A>G (p.Gln101=)
|
rs1242165140
|
|
NM_005506.4(SCARB2):c.314A>T (p.Asn105Ile)
|
rs1732373905
|
|
NM_005506.4(SCARB2):c.315T>C (p.Asn105=)
|
rs2109948728
|
|
NM_005506.4(SCARB2):c.328T>C (p.Ser110Pro)
|
|
|
NM_005506.4(SCARB2):c.343A>C (p.Lys115Gln)
|
rs1732373432
|
|
NM_005506.4(SCARB2):c.345G>A (p.Lys115=)
|
|
|
NM_005506.4(SCARB2):c.346G>A (p.Ala116Thr)
|
|
|
NM_005506.4(SCARB2):c.346G>T (p.Ala116Ser)
|
rs1732373270
|
|
NM_005506.4(SCARB2):c.353T>G (p.Val118Gly)
|
|
|
NM_005506.4(SCARB2):c.365A>T (p.Asp122Val)
|
|
|
NM_005506.4(SCARB2):c.366C>G (p.Asp122Glu)
|
rs2109948680
|
|
NM_005506.4(SCARB2):c.372T>G (p.Ser124=)
|
rs2109948665
|
|
NM_005506.4(SCARB2):c.381C>G (p.Asp127Glu)
|
rs1553948511
|
|
NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser)
|
rs143558324
|
|
NM_005506.4(SCARB2):c.390T>C (p.Ile130=)
|
|
|
NM_005506.4(SCARB2):c.39C>A (p.Ser13=)
|
rs2109974322
|
|
NM_005506.4(SCARB2):c.405A>G (p.Thr135=)
|
|
|
NM_005506.4(SCARB2):c.424-18T>G
|
|
|
NM_005506.4(SCARB2):c.424-19A>G
|
|
|
NM_005506.4(SCARB2):c.424-1G>A
|
rs1732338984
|
|
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs)
|
rs727502773
|
|
NM_005506.4(SCARB2):c.440C>T (p.Ser147Phe)
|
|
|
NM_005506.4(SCARB2):c.443A>G (p.Gln148Arg)
|
rs1560710284
|
|
NM_005506.4(SCARB2):c.444G>A (p.Gln148=)
|
|
|
NM_005506.4(SCARB2):c.451T>A (p.Phe151Ile)
|
rs1732338247
|
|
NM_005506.4(SCARB2):c.451T>C (p.Phe151Leu)
|
rs1732338247
|
|
NM_005506.4(SCARB2):c.459G>A (p.Arg153=)
|
rs2109947357
|
|
NM_005506.4(SCARB2):c.465C>G (p.Ile155Met)
|
|
|
NM_005506.4(SCARB2):c.488A>G (p.Tyr163Cys)
|
rs1326652823
|
|
NM_005506.4(SCARB2):c.495G>A (p.Gln165=)
|
rs748957598
|
|
NM_005506.4(SCARB2):c.508A>T (p.Thr170Ser)
|
rs2109947296
|
|
NM_005506.4(SCARB2):c.511C>T (p.His171Tyr)
|
rs756489019
|
|
NM_005506.4(SCARB2):c.523G>C (p.Glu175Gln)
|
rs751711805
|
|
NM_005506.4(SCARB2):c.526T>C (p.Leu176=)
|
rs2109947255
|
|
NM_005506.4(SCARB2):c.527T>C (p.Leu176Ser)
|
|
|
NM_005506.4(SCARB2):c.541A>C (p.Lys181Gln)
|
|
|
NM_005506.4(SCARB2):c.549A>G (p.Glu183=)
|
rs2109947229
|
|
NM_005506.4(SCARB2):c.55_75del (p.Thr19_Val25del)
|
rs1401788267
|
|
NM_005506.4(SCARB2):c.57C>T (p.Thr19=)
|
|
|
NM_005506.4(SCARB2):c.584T>G (p.Ile195Ser)
|
rs2109947161
|
|
NM_005506.4(SCARB2):c.585C>A (p.Ile195=)
|
|
|
NM_005506.4(SCARB2):c.594T>C (p.Tyr198=)
|
|
|
NM_005506.4(SCARB2):c.605T>C (p.Phe202Ser)
|
rs768181886
|
|
NM_005506.4(SCARB2):c.606C>T (p.Phe202=)
|
rs963757755
|
|
NM_005506.4(SCARB2):c.612+15C>G
|
rs2109947094
|
|
NM_005506.4(SCARB2):c.612+8G>A
|
|
|
NM_005506.4(SCARB2):c.612+9A>G
|
rs1255966631
|
|
NM_005506.4(SCARB2):c.613-16A>C
|
|
|
NM_005506.4(SCARB2):c.613-7T>C
|
|
|
NM_005506.4(SCARB2):c.638A>C (p.Tyr213Ser)
|
rs751953388
|
|
NM_005506.4(SCARB2):c.638_639del (p.Tyr213fs)
|
rs2109944333
|
|
NM_005506.4(SCARB2):c.65C>T (p.Thr22Met)
|
rs1733110733
|
|
NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer)
|
rs886041075
|
|
NM_005506.4(SCARB2):c.678A>G (p.Thr226=)
|
rs987942921
|
|
NM_005506.4(SCARB2):c.684T>C (p.Ile228=)
|
rs2109944274
|
|
NM_005506.4(SCARB2):c.705-16T>G
|
|
|
NM_005506.4(SCARB2):c.705-19T>C
|
|
|
NM_005506.4(SCARB2):c.705-3T>C
|
|
|
NM_005506.4(SCARB2):c.705G>A (p.Thr235=)
|
rs2109943699
|
|
NM_005506.4(SCARB2):c.713A>G (p.Asp238Gly)
|
rs1732242578
|
|
NM_005506.4(SCARB2):c.727G>A (p.Asp243Asn)
|
rs751498101
|
|
NM_005506.4(SCARB2):c.72G>A (p.Leu24=)
|
rs2109974267
|
|
NM_005506.4(SCARB2):c.72G>T (p.Leu24=)
|
rs2109974267
|
|
NM_005506.4(SCARB2):c.741_743del (p.Met247del)
|
rs1732241629
|
|
NM_005506.4(SCARB2):c.752C>T (p.Thr251Ile)
|
rs1553948166
|
|
NM_005506.4(SCARB2):c.764C>T (p.Ser255Phe)
|
rs1211983888
|
|
NM_005506.4(SCARB2):c.781A>G (p.Thr261Ala)
|
rs1732241039
|
|
NM_005506.4(SCARB2):c.78C>A (p.Ala26=)
|
|
|
NM_005506.4(SCARB2):c.78C>G (p.Ala26=)
|
rs756157659
|
|
NM_005506.4(SCARB2):c.802G>A (p.Val268Ile)
|
|
|
NM_005506.4(SCARB2):c.810A>T (p.Pro270=)
|
|
|
NM_005506.4(SCARB2):c.81G>C (p.Arg27=)
|
rs1481115543
|
|
NM_005506.4(SCARB2):c.825-13T>C
|
rs2109942083
|
|
NM_005506.4(SCARB2):c.825-17T>C
|
rs2109942090
|
|
NM_005506.4(SCARB2):c.833A>G (p.Tyr278Cys)
|
rs774730087
|
|
NM_005506.4(SCARB2):c.839C>G (p.Thr280Ser)
|
rs768765087
|
|
NM_005506.4(SCARB2):c.84C>T (p.Val28=)
|
rs781459404
|
|
NM_005506.4(SCARB2):c.850del (p.Tyr284fs)
|
rs2109942038
|
|
NM_005506.4(SCARB2):c.854A>G (p.Glu285Gly)
|
|
|
NM_005506.4(SCARB2):c.858T>C (p.Ser286=)
|
|
|
NM_005506.4(SCARB2):c.869T>A (p.Leu290Gln)
|
rs1553948019
|
|
NM_005506.4(SCARB2):c.879T>C (p.Phe293=)
|
rs2109941982
|
|
NM_005506.4(SCARB2):c.881G>A (p.Arg294Gln)
|
rs752667549
|
|
NM_005506.4(SCARB2):c.889G>C (p.Val297Leu)
|
|
|
NM_005506.4(SCARB2):c.88C>T (p.Gln30Ter)
|
|
|
NM_005506.4(SCARB2):c.8G>A (p.Arg3Gln)
|
rs937537878
|
|
NM_005506.4(SCARB2):c.901A>G (p.Ile301Val)
|
rs2109941946
|
|
NM_005506.4(SCARB2):c.903A>G (p.Ile301Met)
|
rs1485497925
|
|
NM_005506.4(SCARB2):c.910A>G (p.Asn304Asp)
|
rs1732197179
|
|
NM_005506.4(SCARB2):c.927C>T (p.Ala309=)
|
rs775395230
|
|
NM_005506.4(SCARB2):c.951C>G (p.Asn317Lys)
|
rs1732195814
|
|
NM_005506.4(SCARB2):c.956del (p.Leu319fs)
|
rs1732195544
|
|
NM_005506.4(SCARB2):c.962C>T (p.Ser321Leu)
|
rs1553947990
|
|
NM_005506.4(SCARB2):c.967G>A (p.Val323Ile)
|
rs2109941801
|
|
NM_005506.4(SCARB2):c.970C>G (p.Leu324Val)
|
rs1732195035
|
|
NM_005506.4(SCARB2):c.986G>A (p.Cys329Tyr)
|
|
|
NM_005506.4(SCARB2):c.994+19G>T
|
rs2109941762
|
|
NM_005506.4(SCARB2):c.995-16_1062delinsG
|
|
|
NM_005506.4(SCARB2):c.998C>T (p.Ala333Val)
|
rs2109937871
|
|
NM_005506.4(SCARB2):c.9A>T (p.Arg3=)
|
rs148558907
|
|
NM_005670.4(EPM2A):c.101C>A (p.Pro34Gln)
|
rs1776814515
|
|
NM_005670.4(EPM2A):c.101C>T (p.Pro34Leu)
|
|
|
NM_005670.4(EPM2A):c.102G>A (p.Pro34=)
|
rs1014133463
|
|
NM_005670.4(EPM2A):c.105C>G (p.Arg35=)
|
rs1583156996
|
|
NM_005670.4(EPM2A):c.108T>G (p.Gly36=)
|
rs1583156988
|
|
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs)
|
rs1204045237
|
|
NM_005670.4(EPM2A):c.111C>T (p.Ala37=)
|
rs1425061464
|
|
NM_005670.4(EPM2A):c.112_153dup (p.Val38_Ala51dup)
|
rs1339413651
|
|
NM_005670.4(EPM2A):c.117C>T (p.Arg39=)
|
|
|
NM_005670.4(EPM2A):c.118C>A (p.Leu40Met)
|
|
|
NM_005670.4(EPM2A):c.118C>T (p.Leu40=)
|
rs1583156932
|
|
NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer)
|
rs1170939620
|
|
NM_005670.4(EPM2A):c.11G>A (p.Arg4His)
|
|
|
NM_005670.4(EPM2A):c.125C>T (p.Pro42Leu)
|
|
|
NM_005670.4(EPM2A):c.126G>T (p.Pro42=)
|
|
|
NM_005670.4(EPM2A):c.130G>A (p.Gly44Ser)
|
|
|
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)
|
rs374338349
|
|
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro)
|
rs374338349
|
|
NM_005670.4(EPM2A):c.141G>A (p.Ala47=)
|
rs1363081086
|
|
NM_005670.4(EPM2A):c.148G>T (p.Gly50Trp)
|
|
|
NM_005670.4(EPM2A):c.149G>A (p.Gly50Glu)
|
rs796052422
|
|
NM_005670.4(EPM2A):c.14T>G (p.Phe5Cys)
|
rs2128650105
|
|
NM_005670.4(EPM2A):c.155T>G (p.Leu52Arg)
|
|
|
NM_005670.4(EPM2A):c.158C>T (p.Ala53Val)
|
rs1776804791
|
|
NM_005670.4(EPM2A):c.158_159inv (p.Ala53Gly)
|
|
|
NM_005670.4(EPM2A):c.159C>A (p.Ala53=)
|
|
|
NM_005670.4(EPM2A):c.159C>T (p.Ala53=)
|
|
|
NM_005670.4(EPM2A):c.159_160delinsGT (p.Ala53_Leu54=)
|
rs2128649621
|
|
NM_005670.4(EPM2A):c.162G>A (p.Leu54=)
|
rs1223558074
|
|
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)
|
rs187930476
|
|
NM_005670.4(EPM2A):c.164A>C (p.Gln55Pro)
|
rs1776803315
|
|
NM_005670.4(EPM2A):c.166G>C (p.Glu56Gln)
|
rs796052424
|
|
NM_005670.4(EPM2A):c.168G>A (p.Glu56=)
|
|
|
NM_005670.4(EPM2A):c.169C>A (p.Pro57Thr)
|
rs1308438113
|
|
NM_005670.4(EPM2A):c.16G>C (p.Gly6Arg)
|
rs1776824378
|
|
NM_005670.4(EPM2A):c.171G>A (p.Pro57=)
|
rs531330673
|
|
NM_005670.4(EPM2A):c.171G>C (p.Pro57=)
|
|
|
NM_005670.4(EPM2A):c.177G>A (p.Leu59=)
|
|
|
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
|
|
|
NM_005670.4(EPM2A):c.194_214dup (p.Ala71_Ala72insGluLeuAlaAlaGluGluAla)
|
|
|
NM_005670.4(EPM2A):c.201G>A (p.Ala67=)
|
rs1583156346
|
|
NM_005670.4(EPM2A):c.201G>T (p.Ala67=)
|
|
|
NM_005670.4(EPM2A):c.204C>A (p.Ala68=)
|
rs1200399183
|
|
NM_005670.4(EPM2A):c.206_207delinsGC (p.Glu69Gly)
|
rs1583156284
|
|
NM_005670.4(EPM2A):c.211_231dup (p.Ala71_Glu77dup)
|
rs2128649485
|
|
NM_005670.4(EPM2A):c.212C>T (p.Ala71Val)
|
rs1263035227
|
|
NM_005670.4(EPM2A):c.217C>G (p.Gln73Glu)
|
rs1165179833
|
|
NM_005670.4(EPM2A):c.226G>C (p.Ala76Pro)
|
rs1333556119
|
|
NM_005670.4(EPM2A):c.22G>A (p.Val8Met)
|
rs1326700627
|
|
NM_005670.4(EPM2A):c.234G>A (p.Pro78=)
|
rs2128649479
|
|
NM_005670.4(EPM2A):c.235G>T (p.Gly79Cys)
|
rs374826256
|
|
NM_005670.4(EPM2A):c.243G>C (p.Val81=)
|
|
|
NM_005670.4(EPM2A):c.246C>T (p.Asp82=)
|
rs1776792686
|
|
NM_005670.4(EPM2A):c.248C>T (p.Thr83Met)
|
rs780634800
|
|
NM_005670.4(EPM2A):c.252C>G (p.Phe84Leu)
|
rs1362231306
|
|
NM_005670.4(EPM2A):c.256T>G (p.Tyr86Asp)
|
|
|
NM_005670.4(EPM2A):c.258C>G (p.Tyr86Ter)
|
rs750988816
|
|
NM_005670.4(EPM2A):c.258C>T (p.Tyr86=)
|
|
|
NM_005670.4(EPM2A):c.267G>A (p.Leu89=)
|
|
|
NM_005670.4(EPM2A):c.270G>A (p.Lys90=)
|
|
|
NM_005670.4(EPM2A):c.275A>G (p.Glu92Gly)
|
rs1776788119
|
|
NM_005670.4(EPM2A):c.276G>A (p.Glu92=)
|
rs766208204
|
|
NM_005670.4(EPM2A):c.281G>A (p.Gly94Glu)
|
rs2128649334
|
|
NM_005670.4(EPM2A):c.291C>T (p.Leu97=)
|
|
|
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)
|
|
|
NM_005670.4(EPM2A):c.298_299delinsTT (p.Glu100Leu)
|
|
|
NM_005670.4(EPM2A):c.301+11C>G
|
rs2128649268
|
|
NM_005670.4(EPM2A):c.301+14A>G
|
|
|
NM_005670.4(EPM2A):c.301+16del
|
rs2128649260
|
|
NM_005670.4(EPM2A):c.301+20G>A
|
|
|
NM_005670.4(EPM2A):c.301+2T>C
|
|
|
NM_005670.4(EPM2A):c.301+5T>G
|
rs776655093
|
|
NM_005670.4(EPM2A):c.302-17A>G
|
rs1286332017
|
|
NM_005670.4(EPM2A):c.302-20A>T
|
rs779211684
|
|
NM_005670.4(EPM2A):c.302-2A>G
|
rs780648601
|
|
NM_005670.4(EPM2A):c.302-4C>T
|
rs1780908908
|
|
NM_005670.4(EPM2A):c.302-7G>A
|
rs1780909090
|
|
NM_005670.4(EPM2A):c.30A>G (p.Pro10=)
|
|
|
NM_005670.4(EPM2A):c.31C>T (p.Pro11Ser)
|
rs1583157330
|
|
NM_005670.4(EPM2A):c.333T>C (p.Thr111=)
|
rs1780905564
|
|
NM_005670.4(EPM2A):c.347A>G (p.Asn116Ser)
|
|
|
NM_005670.4(EPM2A):c.34G>A (p.Ala12Thr)
|
rs1776822048
|
|
NM_005670.4(EPM2A):c.360T>C (p.Gly120=)
|
rs2128614372
|
|
NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs)
|
rs1780901751
|
|
NM_005670.4(EPM2A):c.37G>A (p.Val13Met)
|
rs567454946
|
|
NM_005670.4(EPM2A):c.37G>C (p.Val13Leu)
|
rs567454946
|
|
NM_005670.4(EPM2A):c.394G>T (p.Ala132Ser)
|
rs1054138980
|
|
NM_005670.4(EPM2A):c.39G>T (p.Val13=)
|
|
|
NM_005670.4(EPM2A):c.406A>G (p.Thr136Ala)
|
rs746523076
|
|
NM_005670.4(EPM2A):c.411T>C (p.Asn137=)
|
|
|
NM_005670.4(EPM2A):c.424A>G (p.Thr142Ala)
|
|
|
NM_005670.4(EPM2A):c.42C>G (p.Ala14=)
|
rs2128650003
|
|
NM_005670.4(EPM2A):c.447T>G (p.Ile149Met)
|
rs2128614175
|
|
NM_005670.4(EPM2A):c.452G>A (p.Gly151Asp)
|
rs1173939028
|
|
NM_005670.4(EPM2A):c.45C>A (p.Gly15=)
|
rs2128649993
|
|
NM_005670.4(EPM2A):c.464T>C (p.Met155Thr)
|
rs1199898061
|
|
NM_005670.4(EPM2A):c.466_469dup (p.Tyr157fs)
|
rs1554263320
|
|
NM_005670.4(EPM2A):c.476+19T>G
|
|
|
NM_005670.4(EPM2A):c.476+5A>G
|
rs1780888090
|
|
NM_005670.4(EPM2A):c.477-19C>T
|
|
|
NM_005670.4(EPM2A):c.48C>A (p.Ala16=)
|
rs1776820090
|
|
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter)
|
rs781291421
|
|
NM_005670.4(EPM2A):c.4C>A (p.Arg2Ser)
|
|
|
NM_005670.4(EPM2A):c.4C>T (p.Arg2Cys)
|
rs796052431
|
|
NM_005670.4(EPM2A):c.4_39del (p.Arg2_Val13del)
|
rs1583157261
|
|
NM_005670.4(EPM2A):c.501T>C (p.Gly167=)
|
|
|
NM_005670.4(EPM2A):c.505T>C (p.Cys169Arg)
|
rs1776588357
|
|
NM_005670.4(EPM2A):c.513T>C (p.Arg171=)
|
|
|
NM_005670.4(EPM2A):c.525T>C (p.His175=)
|
rs2128562729
|
|
NM_005670.4(EPM2A):c.539T>C (p.Leu180Pro)
|
rs1490039469
|
|
NM_005670.4(EPM2A):c.53C>A (p.Pro18Gln)
|
rs1422428137
|
|
NM_005670.4(EPM2A):c.546T>C (p.His182=)
|
rs1776583674
|
|
NM_005670.4(EPM2A):c.558T>C (p.Ile186=)
|
|
|
NM_005670.4(EPM2A):c.55G>A (p.Glu19Lys)
|
rs2128649959
|
|
NM_005670.4(EPM2A):c.560C>G (p.Thr187Arg)
|
rs1582935082
|
|
NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile)
|
rs1582935082
|
|
NM_005670.4(EPM2A):c.564T>G (p.Ala188=)
|
rs1342189516
|
|
NM_005670.4(EPM2A):c.568A>G (p.Met190Val)
|
|
|
NM_005670.4(EPM2A):c.575T>C (p.Phe192Ser)
|
rs2128562619
|
|
NM_005670.4(EPM2A):c.58C>G (p.Leu20Val)
|
|
|
NM_005670.4(EPM2A):c.58C>T (p.Leu20=)
|
rs2128649954
|
|
NM_005670.4(EPM2A):c.59T>A (p.Leu20Gln)
|
rs2128649947
|
|
NM_005670.4(EPM2A):c.603T>C (p.Asn201=)
|
rs748995485
|
|
NM_005670.4(EPM2A):c.61C>T (p.Leu21=)
|
rs2128649940
|
|
NM_005670.4(EPM2A):c.634A>G (p.Met212Val)
|
rs1562424241
|
|
NM_005670.4(EPM2A):c.636G>A (p.Met212Ile)
|
rs1776570738
|
|
NM_005670.4(EPM2A):c.639T>C (p.Thr213=)
|
|
|
NM_005670.4(EPM2A):c.639_640delinsAA (p.Pro214Thr)
|
rs1554256996
|
|
NM_005670.4(EPM2A):c.640C>G (p.Pro214Ala)
|
rs1278542056
|
|
NM_005670.4(EPM2A):c.64G>C (p.Val22Leu)
|
rs1776818861
|
|
NM_005670.4(EPM2A):c.651G>A (p.Met217Ile)
|
rs2128562483
|
|
NM_005670.4(EPM2A):c.65T>A (p.Val22Glu)
|
rs1776818676
|
|
NM_005670.4(EPM2A):c.67G>C (p.Val23Leu)
|
rs1060503233
|
|
NM_005670.4(EPM2A):c.698C>T (p.Thr233Ile)
|
|
|
NM_005670.4(EPM2A):c.69G>A (p.Val23=)
|
|
|
NM_005670.4(EPM2A):c.701C>A (p.Pro234Gln)
|
rs1554256976
|
|
NM_005670.4(EPM2A):c.706A>G (p.Met236Val)
|
rs906096146
|
|
NM_005670.4(EPM2A):c.707T>C (p.Met236Thr)
|
rs1776560298
|
|
NM_005670.4(EPM2A):c.70G>C (p.Gly24Arg)
|
rs1554269710
|
|
NM_005670.4(EPM2A):c.714C>G (p.Thr238=)
|
rs762653955
|
|
NM_005670.4(EPM2A):c.716A>T (p.Glu239Val)
|
|
|
NM_005670.4(EPM2A):c.719-15C>T
|
|
|
NM_005670.4(EPM2A):c.719-8del
|
|
|
NM_005670.4(EPM2A):c.721C>G (p.Arg241Gly)
|
rs104893950
|
|
NM_005670.4(EPM2A):c.731T>G (p.Met244Arg)
|
rs749563452
|
|
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu)
|
rs1387516050
|
|
NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter)
|
rs1776817138
|
|
NM_005670.4(EPM2A):c.758A>G (p.His253Arg)
|
rs749937487
|
|
NM_005670.4(EPM2A):c.758A>T (p.His253Leu)
|
rs749937487
|
|
NM_005670.4(EPM2A):c.759T>C (p.His253=)
|
rs1775923559
|
|
NM_005670.4(EPM2A):c.759_760insATGCA (p.Ala254fs)
|
rs1775923311
|
|
NM_005670.4(EPM2A):c.767T>C (p.Leu256Pro)
|
rs2128556216
|
|
NM_005670.4(EPM2A):c.770A>G (p.Glu257Gly)
|
rs1351520468
|
|
NM_005670.4(EPM2A):c.777A>G (p.Gly259=)
|
|
|
NM_005670.4(EPM2A):c.77G>T (p.Arg26Leu)
|
rs796052433
|
|
NM_005670.4(EPM2A):c.783C>T (p.Ile261=)
|
|
|
NM_005670.4(EPM2A):c.784G>A (p.Val262Met)
|
rs1582913143
|
|
NM_005670.4(EPM2A):c.789C>T (p.Tyr263=)
|
|
|
NM_005670.4(EPM2A):c.790G>A (p.Val264Met)
|
|
|
NM_005670.4(EPM2A):c.792G>A (p.Val264=)
|
|
|
NM_005670.4(EPM2A):c.794A>G (p.His265Arg)
|
rs201053542
|
|
NM_005670.4(EPM2A):c.797G>C (p.Cys266Ser)
|
rs778069029
|
|
NM_005670.4(EPM2A):c.800A>G (p.Asn267Ser)
|
rs1220880720
|
|
NM_005670.4(EPM2A):c.81C>G (p.Pro27=)
|
|
|
NM_005670.4(EPM2A):c.81C>T (p.Pro27=)
|
|
|
NM_005670.4(EPM2A):c.82G>A (p.Glu28Lys)
|
rs1776816199
|
|
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)
|
rs137852917
|
|
NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys)
|
rs137852917
|
|
NM_005670.4(EPM2A):c.841C>T (p.Leu281Phe)
|
rs367551823
|
|
NM_005670.4(EPM2A):c.848A>G (p.Tyr283Cys)
|
rs897601301
|
|
NM_005670.4(EPM2A):c.85C>G (p.Leu29Val)
|
rs2128649886
|
|
NM_005670.4(EPM2A):c.861G>A (p.Trp287Ter)
|
|
|
NM_005670.4(EPM2A):c.86T>C (p.Leu29Pro)
|
rs2128649883
|
|
NM_005670.4(EPM2A):c.874G>T (p.Val292Leu)
|
|
|
NM_005670.4(EPM2A):c.876G>T (p.Val292=)
|
rs774234576
|
|
NM_005670.4(EPM2A):c.894C>T (p.Ala298=)
|
rs1775904922
|
|
NM_005670.4(EPM2A):c.901C>A (p.Pro301Thr)
|
rs1050606699
|
|
NM_005670.4(EPM2A):c.902C>T (p.Pro301Leu)
|
rs796052428
|
|
NM_005670.4(EPM2A):c.903G>A (p.Pro301=)
|
rs141361861
|
|
NM_005670.4(EPM2A):c.903G>C (p.Pro301=)
|
rs141361861
|
|
NM_005670.4(EPM2A):c.911A>G (p.Tyr304Cys)
|
|
|
NM_005670.4(EPM2A):c.92G>A (p.Arg31His)
|
rs1562535536
|
|
NM_005670.4(EPM2A):c.92_124del (p.Arg31_Arg41del)
|
rs2128649765
|
|
NM_005670.4(EPM2A):c.934dup (p.Arg312fs)
|
rs2128555980
|
|
NM_005670.4(EPM2A):c.942A>G (p.Gln314=)
|
|
|
NM_005670.4(EPM2A):c.94T>A (p.Trp32Arg)
|
rs104893955
|
|
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)
|
rs104893955
|
|
NM_005670.4(EPM2A):c.957G>C (p.Gln319His)
|
|
|
NM_005670.4(EPM2A):c.962T>G (p.Phe321Cys)
|
rs772620616
|
|
NM_005670.4(EPM2A):c.96G>A (p.Trp32Ter)
|
|
|
NM_005670.4(EPM2A):c.975T>C (p.Arg325=)
|
rs370469632
|
|
NM_005670.4(EPM2A):c.977C>T (p.Ser326Phe)
|
rs1404589826
|
|
NM_005670.4(EPM2A):c.979T>C (p.Ser327Pro)
|
rs768781694
|
|
NM_005670.4(EPM2A):c.981T>G (p.Ser327=)
|
rs2128555915
|
|
NM_005670.4(EPM2A):c.994_*12del (p.Ter332del)
|
|
|
NM_005670.4(EPM2A):c.9C>T (p.Phe3=)
|
rs2128650111
|
|