NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys)
|
rs113817924
|
0.00232
|
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.129C>G (p.Ala43=)
|
rs547147183
|
0.00145
|
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_005506.4(SCARB2):c.276-7C>G
|
rs200507087
|
0.00042
|
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_004287.5(GOSR2):c.29+8C>T
|
rs573306680
|
0.00029
|
NM_005670.4(EPM2A):c.849T>C (p.Tyr283=)
|
rs142027344
|
0.00029
|
NM_005670.4(EPM2A):c.876G>A (p.Val292=)
|
rs774234576
|
0.00025
|
NM_004287.5(GOSR2):c.64C>T (p.Leu22=)
|
rs770760366
|
0.00016
|
NM_005506.4(SCARB2):c.228C>T (p.Leu76=)
|
rs35069772
|
0.00016
|
NM_005506.4(SCARB2):c.424-5C>T
|
rs192876326
|
0.00014
|
NM_004287.5(GOSR2):c.336+9G>A
|
rs200210055
|
0.00013
|
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu)
|
rs117600063
|
0.00012
|
NM_005670.4(EPM2A):c.102G>C (p.Pro34=)
|
rs1014133463
|
0.00011
|
NM_004287.5(GOSR2):c.246T>C (p.Thr82=)
|
rs141380070
|
0.00010
|
NM_005506.4(SCARB2):c.1407G>A (p.Ala469=)
|
rs144878666
|
0.00010
|
NM_000100.4(CSTB):c.183C>T (p.Asp61=)
|
rs772899788
|
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.402A>G (p.Arg134=)
|
rs778684185
|
0.00009
|
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn)
|
rs773017713
|
0.00009
|
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_005506.4(SCARB2):c.1187+12T>C
|
rs532651260
|
0.00006
|
NM_005670.4(EPM2A):c.984G>T (p.Val328=)
|
rs200996083
|
0.00006
|
NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe)
|
rs137975476
|
0.00005
|
NM_005506.4(SCARB2):c.118-12G>T
|
rs753744775
|
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.192C>T (p.Phe64=)
|
rs773820884
|
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.405C>T (p.Asn135=)
|
rs753166413
|
0.00004
|
NM_004287.5(GOSR2):c.477+20A>T
|
rs778488918
|
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.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.348C>T (p.Asn116=)
|
rs760860945
|
0.00004
|
NM_005670.4(EPM2A):c.476+7A>G
|
rs756197281
|
0.00004
|
NM_005670.4(EPM2A):c.918C>T (p.Asp306=)
|
rs375436219
|
0.00004
|
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.447T>C (p.Asp149=)
|
rs750298260
|
0.00003
|
NM_005506.4(SCARB2):c.1116G>A (p.Leu372=)
|
rs564647544
|
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.468C>T (p.Ile156=)
|
rs771468161
|
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_005670.4(EPM2A):c.156G>A (p.Leu52=)
|
rs1196934711
|
0.00003
|
NM_005670.4(EPM2A):c.441T>C (p.Phe147=)
|
rs965931486
|
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.936G>A (p.Arg312=)
|
rs773315475
|
0.00003
|
NM_000100.4(CSTB):c.168+13C>T
|
rs910966552
|
0.00002
|
NM_000100.4(CSTB):c.180C>T (p.Gly60=)
|
rs771027631
|
0.00002
|
NM_004287.5(GOSR2):c.231C>T (p.Val77=)
|
rs774359254
|
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.576T>C (p.Phe192=)
|
rs1433213435
|
0.00002
|
NM_004287.5(GOSR2):c.636A>G (p.Thr212=)
|
rs990159762
|
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.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.477-13A>G
|
rs778452911
|
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.768G>A (p.Leu256=)
|
rs753561820
|
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_000100.4(CSTB):c.135C>T (p.Ser45=)
|
rs375008755
|
0.00001
|
NM_000100.4(CSTB):c.169-10C>G
|
rs1487271257
|
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.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.27G>C (p.Thr9=)
|
rs945357152
|
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.186A>G (p.Lys62=)
|
rs755897636
|
0.00001
|
NM_004287.5(GOSR2):c.237C>T (p.His79=)
|
rs1186777949
|
0.00001
|
NM_004287.5(GOSR2):c.249G>A (p.Ala83=)
|
rs1057520593
|
0.00001
|
NM_004287.5(GOSR2):c.29+15G>T
|
rs374396285
|
0.00001
|
NM_004287.5(GOSR2):c.30-15C>T
|
rs750704163
|
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.478-4C>G
|
rs777442803
|
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.95-7T>C
|
rs752611190
|
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.1188-5T>C
|
rs775387526
|
0.00001
|
NM_005506.4(SCARB2):c.1193C>T (p.Thr398Met)
|
rs759493134
|
0.00001
|
NM_005506.4(SCARB2):c.1240-9C>T
|
rs369557905
|
0.00001
|
NM_005506.4(SCARB2):c.1399-8T>C
|
rs1731903272
|
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.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.400A>C (p.Arg134=)
|
rs747696444
|
0.00001
|
NM_005506.4(SCARB2):c.423+7A>C
|
rs1380805649
|
0.00001
|
NM_005506.4(SCARB2):c.579C>T (p.Pro193=)
|
rs148029250
|
0.00001
|
NM_005506.4(SCARB2):c.613-14T>G
|
rs1484418425
|
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.705-20C>G
|
rs747460425
|
0.00001
|
NM_005506.4(SCARB2):c.921C>T (p.Asp307=)
|
rs1732196836
|
0.00001
|
NM_005670.4(EPM2A):c.120G>A (p.Leu40=)
|
rs1264709179
|
0.00001
|
NM_005670.4(EPM2A):c.18G>A (p.Gly6=)
|
rs1432262857
|
0.00001
|
NM_005670.4(EPM2A):c.210G>A (p.Glu70=)
|
rs878854780
|
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.279G>A (p.Pro93=)
|
rs370423440
|
0.00001
|
NM_005670.4(EPM2A):c.301+16G>A
|
rs1286855280
|
0.00001
|
NM_005670.4(EPM2A):c.36C>T (p.Ala12=)
|
rs1287653139
|
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.666G>A (p.Arg222=)
|
rs762189100
|
0.00001
|
NM_005670.4(EPM2A):c.714C>T (p.Thr238=)
|
rs762653955
|
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.822C>T (p.Thr274=)
|
rs763812238
|
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_000100.4(CSTB):c.111G>A (p.Val37=)
|
|
|
NM_000100.4(CSTB):c.12G>A (p.Gly4=)
|
rs1555888494
|
|
NM_000100.4(CSTB):c.144C>T (p.Val48=)
|
|
|
NM_000100.4(CSTB):c.15G>A (p.Ala5=)
|
|
|
NM_000100.4(CSTB):c.168+19G>T
|
|
|
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.207G>T (p.Val69=)
|
|
|
NM_000100.4(CSTB):c.21C>A (p.Ser7=)
|
rs748254497
|
|
NM_000100.4(CSTB):c.246A>G (p.Leu82=)
|
rs2123385440
|
|
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.33G>A (p.Pro11=)
|
rs2123387882
|
|
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.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.67-4C>G
|
rs2084002305
|
|
NM_004287.5(GOSR2):c.10C>T (p.Leu4=)
|
|
|
NM_004287.5(GOSR2):c.15C>T (p.Phe5=)
|
|
|
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.204-8A>C
|
|
|
NM_004287.5(GOSR2):c.204-9C>T
|
|
|
NM_004287.5(GOSR2):c.219A>G (p.Leu73=)
|
|
|
NM_004287.5(GOSR2):c.29+17G>A
|
|
|
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.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.337-6dup
|
rs2146971287
|
|
NM_004287.5(GOSR2):c.363C>T (p.Asp121=)
|
rs886053078
|
|
NM_004287.5(GOSR2):c.381C>T (p.Asn127=)
|
rs761272920
|
|
NM_004287.5(GOSR2):c.390C>T (p.Leu130=)
|
|
|
NM_004287.5(GOSR2):c.435C>T (p.His145=)
|
rs1599020227
|
|
NM_004287.5(GOSR2):c.478-14C>T
|
rs1203026971
|
|
NM_004287.5(GOSR2):c.478-6C>T
|
|
|
NM_004287.5(GOSR2):c.480G>T (p.Gly160=)
|
|
|
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.609C>T (p.Val203=)
|
|
|
NM_004287.5(GOSR2):c.618C>T (p.Leu206=)
|
|
|
NM_004287.5(GOSR2):c.631C>T (p.Leu211=)
|
rs2147052221
|
|
NM_004287.5(GOSR2):c.6T>C (p.Asp2=)
|
rs757594881
|
|
NM_004287.5(GOSR2):c.94+12A>T
|
|
|
NM_004287.5(GOSR2):c.94+16_94+17del
|
rs780992578
|
|
NM_004287.5(GOSR2):c.95-6G>T
|
rs1345182096
|
|
NM_004287.5(GOSR2):c.95-7T>G
|
rs752611190
|
|
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.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.1056C>A (p.Ala352=)
|
|
|
NM_005506.4(SCARB2):c.1086C>T (p.Asp362=)
|
rs1238674003
|
|
NM_005506.4(SCARB2):c.1107T>A (p.Ile369=)
|
rs2109937710
|
|
NM_005506.4(SCARB2):c.1113+16C>T
|
|
|
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.1119T>G (p.Thr373=)
|
|
|
NM_005506.4(SCARB2):c.1161T>C (p.Ile387=)
|
|
|
NM_005506.4(SCARB2):c.1164T>C (p.Tyr388=)
|
rs777550966
|
|
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.1224G>A (p.Val408=)
|
rs1803391
|
|
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.1240-4C>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.1275G>A (p.Leu425=)
|
|
|
NM_005506.4(SCARB2):c.127T>C (p.Leu43=)
|
|
|
NM_005506.4(SCARB2):c.12C>T (p.Cys4=)
|
|
|
NM_005506.4(SCARB2):c.1305C>T (p.Ile435=)
|
|
|
NM_005506.4(SCARB2):c.1317C>G (p.Pro439=)
|
rs1731937017
|
|
NM_005506.4(SCARB2):c.1371A>C (p.Ala457=)
|
|
|
NM_005506.4(SCARB2):c.1386A>T (p.Gly462=)
|
rs1315496558
|
|
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.1399-13T>C
|
|
|
NM_005506.4(SCARB2):c.1399-15T>A
|
|
|
NM_005506.4(SCARB2):c.1399-16C>G
|
|
|
NM_005506.4(SCARB2):c.141T>C (p.Thr47=)
|
rs2109960926
|
|
NM_005506.4(SCARB2):c.147A>G (p.Ala49=)
|
rs764449103
|
|
NM_005506.4(SCARB2):c.201C>T (p.Phe67=)
|
rs749098073
|
|
NM_005506.4(SCARB2):c.204T>C (p.Asn68=)
|
|
|
NM_005506.4(SCARB2):c.21C>T (p.Tyr7=)
|
rs1259404552
|
|
NM_005506.4(SCARB2):c.228C>G (p.Leu76=)
|
rs35069772
|
|
NM_005506.4(SCARB2):c.234G>C (p.Gly78=)
|
|
|
NM_005506.4(SCARB2):c.249G>A (p.Val83=)
|
|
|
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.303A>G (p.Gln101=)
|
rs1242165140
|
|
NM_005506.4(SCARB2):c.315T>C (p.Asn105=)
|
rs2109948728
|
|
NM_005506.4(SCARB2):c.345G>A (p.Lys115=)
|
|
|
NM_005506.4(SCARB2):c.372T>G (p.Ser124=)
|
rs2109948665
|
|
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.444G>A (p.Gln148=)
|
|
|
NM_005506.4(SCARB2):c.459G>A (p.Arg153=)
|
rs2109947357
|
|
NM_005506.4(SCARB2):c.495G>A (p.Gln165=)
|
rs748957598
|
|
NM_005506.4(SCARB2):c.526T>C (p.Leu176=)
|
rs2109947255
|
|
NM_005506.4(SCARB2):c.549A>G (p.Glu183=)
|
rs2109947229
|
|
NM_005506.4(SCARB2):c.57C>T (p.Thr19=)
|
|
|
NM_005506.4(SCARB2):c.585C>A (p.Ile195=)
|
|
|
NM_005506.4(SCARB2):c.594T>C (p.Tyr198=)
|
|
|
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.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.72G>T (p.Leu24=)
|
rs2109974267
|
|
NM_005506.4(SCARB2):c.78C>A (p.Ala26=)
|
|
|
NM_005506.4(SCARB2):c.78C>G (p.Ala26=)
|
rs756157659
|
|
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.84C>T (p.Val28=)
|
rs781459404
|
|
NM_005506.4(SCARB2):c.858T>C (p.Ser286=)
|
|
|
NM_005506.4(SCARB2):c.879T>C (p.Phe293=)
|
rs2109941982
|
|
NM_005506.4(SCARB2):c.927C>T (p.Ala309=)
|
rs775395230
|
|
NM_005506.4(SCARB2):c.994+19G>T
|
rs2109941762
|
|
NM_005506.4(SCARB2):c.9A>T (p.Arg3=)
|
rs148558907
|
|
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.111C>T (p.Ala37=)
|
rs1425061464
|
|
NM_005670.4(EPM2A):c.117C>T (p.Arg39=)
|
|
|
NM_005670.4(EPM2A):c.118C>T (p.Leu40=)
|
rs1583156932
|
|
NM_005670.4(EPM2A):c.126G>T (p.Pro42=)
|
|
|
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.168G>A (p.Glu56=)
|
|
|
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.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.234G>A (p.Pro78=)
|
rs2128649479
|
|
NM_005670.4(EPM2A):c.243G>C (p.Val81=)
|
|
|
NM_005670.4(EPM2A):c.246C>T (p.Asp82=)
|
rs1776792686
|
|
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.276G>A (p.Glu92=)
|
rs766208204
|
|
NM_005670.4(EPM2A):c.291C>T (p.Leu97=)
|
|
|
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.302-17A>G
|
rs1286332017
|
|
NM_005670.4(EPM2A):c.302-20A>T
|
rs779211684
|
|
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.333T>C (p.Thr111=)
|
rs1780905564
|
|
NM_005670.4(EPM2A):c.360T>C (p.Gly120=)
|
rs2128614372
|
|
NM_005670.4(EPM2A):c.39G>T (p.Val13=)
|
|
|
NM_005670.4(EPM2A):c.411T>C (p.Asn137=)
|
|
|
NM_005670.4(EPM2A):c.42C>G (p.Ala14=)
|
rs2128650003
|
|
NM_005670.4(EPM2A):c.45C>A (p.Gly15=)
|
rs2128649993
|
|
NM_005670.4(EPM2A):c.476+19T>G
|
|
|
NM_005670.4(EPM2A):c.477-19C>T
|
|
|
NM_005670.4(EPM2A):c.48C>A (p.Ala16=)
|
rs1776820090
|
|
NM_005670.4(EPM2A):c.501T>C (p.Gly167=)
|
|
|
NM_005670.4(EPM2A):c.513T>C (p.Arg171=)
|
|
|
NM_005670.4(EPM2A):c.525T>C (p.His175=)
|
rs2128562729
|
|
NM_005670.4(EPM2A):c.546T>C (p.His182=)
|
rs1776583674
|
|
NM_005670.4(EPM2A):c.558T>C (p.Ile186=)
|
|
|
NM_005670.4(EPM2A):c.564T>G (p.Ala188=)
|
rs1342189516
|
|
NM_005670.4(EPM2A):c.58C>T (p.Leu20=)
|
rs2128649954
|
|
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.639T>C (p.Thr213=)
|
|
|
NM_005670.4(EPM2A):c.69G>A (p.Val23=)
|
|
|
NM_005670.4(EPM2A):c.714C>G (p.Thr238=)
|
rs762653955
|
|
NM_005670.4(EPM2A):c.719-15C>T
|
|
|
NM_005670.4(EPM2A):c.759T>C (p.His253=)
|
rs1775923559
|
|
NM_005670.4(EPM2A):c.777A>G (p.Gly259=)
|
|
|
NM_005670.4(EPM2A):c.783C>T (p.Ile261=)
|
|
|
NM_005670.4(EPM2A):c.789C>T (p.Tyr263=)
|
|
|
NM_005670.4(EPM2A):c.792G>A (p.Val264=)
|
|
|
NM_005670.4(EPM2A):c.81C>G (p.Pro27=)
|
|
|
NM_005670.4(EPM2A):c.81C>T (p.Pro27=)
|
|
|
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.903G>A (p.Pro301=)
|
rs141361861
|
|
NM_005670.4(EPM2A):c.942A>G (p.Gln314=)
|
|
|
NM_005670.4(EPM2A):c.975T>C (p.Arg325=)
|
rs370469632
|
|
NM_005670.4(EPM2A):c.9C>T (p.Phe3=)
|
rs2128650111
|
|