NM_014989.7(RIMS1):c.1083A>G (p.Leu361=)
|
rs2463730
|
0.97497
|
NM_014989.7(RIMS1):c.666A>G (p.Leu222=)
|
rs2249021
|
0.68629
|
NM_014989.7(RIMS1):c.2928-80C>T
|
rs6923891
|
0.64993
|
NM_014989.7(RIMS1):c.1857+61C>T
|
rs2807519
|
0.64829
|
NM_014989.7(RIMS1):c.*1038A>G
|
rs2815736
|
0.52128
|
NM_014989.7(RIMS1):c.812+93G>A
|
rs17725666
|
0.28373
|
NM_014989.7(RIMS1):c.1209G>A (p.Ala403=)
|
rs114505309
|
0.27986
|
NM_014989.7(RIMS1):c.4548C>T (p.Phe1516=)
|
rs2815738
|
0.20033
|
NM_014989.7(RIMS1):c.*1964C>A
|
rs1055270
|
0.13021
|
NM_014989.7(RIMS1):c.*1494T>C
|
rs73750480
|
0.11554
|
NM_014989.7(RIMS1):c.*1076A>G
|
rs9446638
|
0.11417
|
NM_014989.7(RIMS1):c.460-37C>T
|
rs41265489
|
0.06803
|
NM_014989.7(RIMS1):c.3482+79A>T
|
rs6925880
|
0.05401
|
NM_014989.7(RIMS1):c.3555-91G>A
|
rs76570730
|
0.03149
|
NM_014989.7(RIMS1):c.3470C>T (p.Pro1157Leu)
|
rs41265501
|
0.02304
|
NM_014989.7(RIMS1):c.3053+74A>T
|
rs9442761
|
0.02076
|
NM_014989.7(RIMS1):c.1679-20565G>A
|
rs9446600
|
0.02013
|
NM_014989.7(RIMS1):c.1776G>A (p.Glu592=)
|
rs77121218
|
0.01826
|
NM_014989.7(RIMS1):c.*75G>A
|
rs11751101
|
0.01731
|
NM_014989.7(RIMS1):c.743C>T (p.Ser248Leu)
|
rs116476753
|
0.01524
|
NM_014989.7(RIMS1):c.*280C>T
|
rs9446637
|
0.01505
|
NM_014989.7(RIMS1):c.*1390dup
|
rs142802827
|
0.01135
|
NM_014989.7(RIMS1):c.*138G>T
|
rs55642181
|
0.00886
|
NM_014989.7(RIMS1):c.648G>A (p.Ser216=)
|
rs116303981
|
0.00829
|
NM_014989.7(RIMS1):c.2895G>A (p.Pro965=)
|
rs41265493
|
0.00819
|
NM_014989.7(RIMS1):c.2670T>C (p.His890=)
|
rs34821160
|
0.00550
|
NM_014989.7(RIMS1):c.*2125G>C
|
rs138055062
|
0.00491
|
NM_014989.7(RIMS1):c.*2251G>A
|
rs116453051
|
0.00452
|
NM_014989.7(RIMS1):c.*1991T>G
|
rs41265503
|
0.00445
|
NM_014989.7(RIMS1):c.5076A>G (p.Ser1692=)
|
rs61736795
|
0.00409
|
NM_014989.7(RIMS1):c.1459G>A (p.Ala487Thr)
|
rs200422266
|
0.00320
|
NM_014989.7(RIMS1):c.438C>T (p.Arg146=)
|
rs142196418
|
0.00298
|
NM_014989.7(RIMS1):c.4923C>T (p.Ile1641=)
|
rs144188801
|
0.00249
|
NM_014989.7(RIMS1):c.4983G>A (p.Pro1661=)
|
rs377743730
|
0.00237
|
NM_014989.7(RIMS1):c.1230C>G (p.Gly410=)
|
rs544554763
|
0.00200
|
NM_014989.7(RIMS1):c.3308+12T>G
|
rs115294253
|
0.00192
|
NM_014989.7(RIMS1):c.3171C>T (p.Ser1057=)
|
rs201355521
|
0.00174
|
NM_014989.7(RIMS1):c.*283A>G
|
rs140634975
|
0.00168
|
NM_014989.7(RIMS1):c.*1935A>G
|
rs115062476
|
0.00159
|
NM_014989.7(RIMS1):c.2082-9T>C
|
rs199746605
|
0.00152
|
NM_014989.7(RIMS1):c.594A>G (p.Thr198=)
|
rs149442461
|
0.00147
|
NM_014989.7(RIMS1):c.*1702G>A
|
rs539479642
|
0.00121
|
NM_014989.7(RIMS1):c.-127G>A
|
rs371884894
|
0.00121
|
NM_014989.7(RIMS1):c.3465G>A (p.Ala1155=)
|
rs190562383
|
0.00108
|
NM_014989.7(RIMS1):c.2699-8T>C
|
rs149883454
|
0.00100
|
NM_014989.7(RIMS1):c.1764A>G (p.Gln588=)
|
rs192179523
|
0.00088
|
NM_014989.7(RIMS1):c.3471G>A (p.Pro1157=)
|
rs374938269
|
0.00086
|
NM_014989.7(RIMS1):c.2367T>C (p.Asp789=)
|
rs370823273
|
0.00077
|
NM_014989.7(RIMS1):c.*1690G>A
|
rs773379819
|
0.00059
|
NM_014989.7(RIMS1):c.813-14T>G
|
rs180682682
|
0.00058
|
NM_014989.7(RIMS1):c.255T>C (p.His85=)
|
rs375667218
|
0.00054
|
NM_014989.7(RIMS1):c.2294A>G (p.Gln765Arg)
|
rs199629596
|
0.00050
|
NM_014989.7(RIMS1):c.-140T>C
|
rs528494309
|
0.00049
|
NM_014989.7(RIMS1):c.2874C>T (p.Arg958=)
|
rs77297702
|
0.00046
|
NM_014989.7(RIMS1):c.3786G>A (p.Ser1262=)
|
rs369147538
|
0.00046
|
NM_014989.7(RIMS1):c.-121C>T
|
rs532687860
|
0.00045
|
NM_014989.7(RIMS1):c.*1280G>A
|
rs574994605
|
0.00043
|
NM_014989.7(RIMS1):c.3923C>A (p.Ser1308Tyr)
|
rs375771440
|
0.00042
|
NM_014989.7(RIMS1):c.3804A>G (p.Gly1268=)
|
rs369787158
|
0.00041
|
NM_014989.7(RIMS1):c.4159C>T (p.Arg1387Trp)
|
rs201017334
|
0.00039
|
NM_014989.7(RIMS1):c.3725C>T (p.Pro1242Leu)
|
rs201454406
|
0.00035
|
NM_014989.7(RIMS1):c.3703G>A (p.Gly1235Arg)
|
rs200637817
|
0.00033
|
NM_014989.7(RIMS1):c.*2291C>T
|
rs78214534
|
0.00032
|
NM_014989.7(RIMS1):c.3117-7G>A
|
rs202107254
|
0.00032
|
NM_014989.7(RIMS1):c.4959C>T (p.Ile1653=)
|
rs375969391
|
0.00031
|
NM_014989.7(RIMS1):c.3187A>T (p.Ile1063Phe)
|
rs928403826
|
0.00030
|
NM_014989.7(RIMS1):c.2523A>G (p.Glu841=)
|
rs186078277
|
0.00029
|
NM_014989.7(RIMS1):c.1679-16555A>G
|
rs547118232
|
0.00027
|
NM_014989.7(RIMS1):c.3851-20T>C
|
rs759179148
|
0.00027
|
NM_014989.7(RIMS1):c.4191G>A (p.Lys1397=)
|
rs372513852
|
0.00025
|
NM_014989.7(RIMS1):c.942G>A (p.Arg314=)
|
rs185069362
|
0.00025
|
NM_014989.7(RIMS1):c.3430C>T (p.Arg1144Ter)
|
rs202076893
|
0.00024
|
NM_014989.7(RIMS1):c.3834C>T (p.Ser1278=)
|
rs192801038
|
0.00024
|
NM_014989.7(RIMS1):c.*1458A>T
|
rs549225918
|
0.00023
|
NM_014989.7(RIMS1):c.1131G>A (p.Met377Ile)
|
rs558241050
|
0.00021
|
NM_014989.7(RIMS1):c.812+16C>T
|
rs536645397
|
0.00020
|
NM_014989.7(RIMS1):c.812+13T>A
|
rs575748980
|
0.00019
|
NM_014989.7(RIMS1):c.3941T>C (p.Leu1314Pro)
|
rs201798320
|
0.00018
|
NM_014989.7(RIMS1):c.868C>G (p.Arg290Gly)
|
rs200278023
|
0.00018
|
NM_014989.7(RIMS1):c.3194+9C>A
|
rs564292772
|
0.00017
|
NM_014989.7(RIMS1):c.3399-4A>G
|
rs368216570
|
0.00017
|
NM_014989.7(RIMS1):c.4197C>T (p.Thr1399=)
|
rs201885523
|
0.00016
|
NM_014989.7(RIMS1):c.798A>G (p.Glu266=)
|
rs755868505
|
0.00016
|
NM_014989.7(RIMS1):c.*1310A>G
|
rs191038983
|
0.00015
|
NM_014989.7(RIMS1):c.4367-20C>A
|
rs372419337
|
0.00015
|
NM_014989.7(RIMS1):c.1679-20641C>T
|
rs374026843
|
0.00014
|
NM_014989.7(RIMS1):c.2242-12C>T
|
rs190023733
|
0.00014
|
NM_014989.7(RIMS1):c.2803T>C (p.Ser935Pro)
|
rs370152913
|
0.00014
|
NM_014989.7(RIMS1):c.4945T>A (p.Ser1649Thr)
|
rs201355053
|
0.00014
|
NM_014989.7(RIMS1):c.1250C>T (p.Ala417Val)
|
rs946852723
|
0.00013
|
NM_014989.7(RIMS1):c.165-5C>G
|
rs532652925
|
0.00013
|
NM_014989.7(RIMS1):c.5053A>G (p.Thr1685Ala)
|
rs200035429
|
0.00013
|
NM_014989.7(RIMS1):c.1449C>T (p.Leu483=)
|
rs1057239467
|
0.00012
|
NM_014989.7(RIMS1):c.1957+13T>A
|
rs369155622
|
0.00012
|
NM_014989.7(RIMS1):c.3850+7G>A
|
rs753948585
|
0.00012
|
NM_014989.7(RIMS1):c.732G>A (p.Gly244=)
|
rs369651873
|
0.00012
|
NM_014989.7(RIMS1):c.165-13T>A
|
rs778746250
|
0.00011
|
NM_014989.7(RIMS1):c.1724G>A (p.Arg575Gln)
|
rs760384666
|
0.00011
|
NM_014989.7(RIMS1):c.3454A>C (p.Ile1152Leu)
|
rs375329977
|
0.00011
|
NM_014989.7(RIMS1):c.3711G>A (p.Ser1237=)
|
rs761517626
|
0.00011
|
NM_014989.7(RIMS1):c.3851-13T>C
|
rs761123612
|
0.00011
|
NM_014989.7(RIMS1):c.164+13C>T
|
rs372776213
|
0.00010
|
NM_014989.7(RIMS1):c.169G>C (p.Val57Leu)
|
rs200005095
|
0.00010
|
NM_014989.7(RIMS1):c.1744T>G (p.Ser582Ala)
|
rs377567871
|
0.00010
|
NM_014989.7(RIMS1):c.2894C>T (p.Pro965Leu)
|
rs752875047
|
0.00010
|
NM_014989.7(RIMS1):c.164+15G>T
|
rs368246743
|
0.00009
|
NM_014989.7(RIMS1):c.2764C>A (p.Pro922Thr)
|
rs549248313
|
0.00009
|
NM_014989.7(RIMS1):c.3308+20A>G
|
rs543410071
|
0.00009
|
NM_014989.7(RIMS1):c.3392G>A (p.Arg1131Gln)
|
rs562081460
|
0.00009
|
NM_014989.7(RIMS1):c.3588C>T (p.His1196=)
|
rs762158019
|
0.00009
|
NM_014989.7(RIMS1):c.4112G>A (p.Arg1371His)
|
rs62407506
|
0.00009
|
NM_014989.7(RIMS1):c.4371G>A (p.Ser1457=)
|
rs774184109
|
0.00009
|
NM_014989.7(RIMS1):c.1194C>G (p.Thr398=)
|
rs1480817024
|
0.00008
|
NM_014989.7(RIMS1):c.1280C>T (p.Ala427Val)
|
rs562760443
|
0.00008
|
NM_014989.7(RIMS1):c.1320C>A (p.Gly440=)
|
rs772564728
|
0.00008
|
NM_014989.7(RIMS1):c.3116+3A>G
|
rs1400563675
|
0.00008
|
NM_014989.7(RIMS1):c.3122T>C (p.Leu1041Pro)
|
rs368839251
|
0.00008
|
NM_014989.7(RIMS1):c.3482+6A>G
|
rs774534544
|
0.00008
|
NM_014989.7(RIMS1):c.3921G>T (p.Gly1307=)
|
rs769179703
|
0.00008
|
NM_014989.7(RIMS1):c.4044C>T (p.Ser1348=)
|
rs372890774
|
0.00008
|
NM_014989.7(RIMS1):c.4725A>G (p.Pro1575=)
|
rs373017297
|
0.00008
|
NM_014989.7(RIMS1):c.*2386T>G
|
rs886061723
|
0.00007
|
NM_014989.7(RIMS1):c.1088G>T (p.Arg363Leu)
|
rs371189625
|
0.00007
|
NM_014989.7(RIMS1):c.2373-16C>T
|
rs951089798
|
0.00007
|
NM_014989.7(RIMS1):c.3482+12C>T
|
rs369171178
|
0.00007
|
NM_014989.7(RIMS1):c.3758C>T (p.Pro1253Leu)
|
rs367601102
|
0.00007
|
NM_014989.7(RIMS1):c.3850+6C>T
|
rs764137197
|
0.00007
|
NM_014989.7(RIMS1):c.460-19C>T
|
rs749192970
|
0.00007
|
NM_014989.7(RIMS1):c.4860+15G>A
|
rs553488575
|
0.00007
|
NM_014989.7(RIMS1):c.*44G>A
|
rs762926493
|
0.00006
|
NM_014989.7(RIMS1):c.1405C>G (p.Pro469Ala)
|
rs773912494
|
0.00006
|
NM_014989.7(RIMS1):c.1533G>A (p.Pro511=)
|
rs201473375
|
0.00006
|
NM_014989.7(RIMS1):c.1581G>A (p.Gln527=)
|
rs757931095
|
0.00006
|
NM_014989.7(RIMS1):c.164+14A>G
|
rs554798338
|
0.00006
|
NM_014989.7(RIMS1):c.1746G>A (p.Ser582=)
|
rs369457976
|
0.00006
|
NM_014989.7(RIMS1):c.1902C>T (p.Phe634=)
|
rs367563850
|
0.00006
|
NM_014989.7(RIMS1):c.211A>C (p.Arg71=)
|
rs980106766
|
0.00006
|
NM_014989.7(RIMS1):c.2308C>T (p.Pro770Ser)
|
rs368179729
|
0.00006
|
NM_014989.7(RIMS1):c.2459G>A (p.Arg820His)
|
rs121918302
|
0.00006
|
NM_014989.7(RIMS1):c.245C>T (p.Pro82Leu)
|
rs376491487
|
0.00006
|
NM_014989.7(RIMS1):c.248G>A (p.Arg83Lys)
|
rs373573052
|
0.00006
|
NM_014989.7(RIMS1):c.2771-1G>A
|
rs772096088
|
0.00006
|
NM_014989.7(RIMS1):c.3182G>A (p.Trp1061Ter)
|
rs749393051
|
0.00006
|
NM_014989.7(RIMS1):c.3949G>A (p.Glu1317Lys)
|
rs778328311
|
0.00006
|
NM_014989.7(RIMS1):c.423G>A (p.Ala141=)
|
rs377211296
|
0.00006
|
NM_014989.7(RIMS1):c.4367-5G>C
|
rs371247831
|
0.00006
|
NM_014989.7(RIMS1):c.4506-5G>A
|
rs201556693
|
0.00006
|
NM_014989.7(RIMS1):c.4619-8A>C
|
rs753724273
|
0.00006
|
NM_014989.7(RIMS1):c.617G>A (p.Arg206Lys)
|
rs756083640
|
0.00006
|
NM_014989.7(RIMS1):c.723G>A (p.Arg241=)
|
rs775491268
|
0.00006
|
NM_014989.7(RIMS1):c.*1025G>T
|
rs538581208
|
0.00005
|
NM_014989.7(RIMS1):c.*1682C>T
|
rs886061721
|
0.00005
|
NM_014989.7(RIMS1):c.*397G>A
|
rs575379426
|
0.00005
|
NM_014989.7(RIMS1):c.1311G>A (p.Arg437=)
|
rs769837216
|
0.00005
|
NM_014989.7(RIMS1):c.164+19C>T
|
rs776768970
|
0.00005
|
NM_014989.7(RIMS1):c.1821C>G (p.Thr607=)
|
rs370529408
|
0.00005
|
NM_014989.7(RIMS1):c.2343T>C (p.Tyr781=)
|
rs751241899
|
0.00005
|
NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser)
|
rs200935038
|
0.00005
|
NM_014989.7(RIMS1):c.3807A>G (p.Arg1269=)
|
rs748161195
|
0.00005
|
NM_014989.7(RIMS1):c.3835G>A (p.Gly1279Ser)
|
rs570683146
|
0.00005
|
NM_014989.7(RIMS1):c.4710A>G (p.Lys1570=)
|
rs764183183
|
0.00005
|
NM_014989.7(RIMS1):c.561A>G (p.Thr187=)
|
rs746569613
|
0.00005
|
NM_014989.7(RIMS1):c.826G>A (p.Gly276Arg)
|
rs757160554
|
0.00005
|
NM_014989.7(RIMS1):c.986A>G (p.Asp329Gly)
|
rs1350804216
|
0.00005
|
NM_014989.7(RIMS1):c.*2132A>G
|
rs985097971
|
0.00004
|
NM_014989.7(RIMS1):c.*453G>C
|
rs555043314
|
0.00004
|
NM_014989.7(RIMS1):c.1317G>A (p.Pro439=)
|
rs1410925622
|
0.00004
|
NM_014989.7(RIMS1):c.1408C>T (p.Leu470Phe)
|
rs771801671
|
0.00004
|
NM_014989.7(RIMS1):c.165-7G>A
|
rs759602264
|
0.00004
|
NM_014989.7(RIMS1):c.165-8C>T
|
rs569516900
|
0.00004
|
NM_014989.7(RIMS1):c.185C>T (p.Ala62Val)
|
rs769975046
|
0.00004
|
NM_014989.7(RIMS1):c.2082-16A>G
|
rs949666266
|
0.00004
|
NM_014989.7(RIMS1):c.2114C>G (p.Pro705Arg)
|
rs761237560
|
0.00004
|
NM_014989.7(RIMS1):c.246-11C>G
|
rs369767778
|
0.00004
|
NM_014989.7(RIMS1):c.2624T>C (p.Leu875Pro)
|
rs775018237
|
0.00004
|
NM_014989.7(RIMS1):c.2701T>G (p.Ser901Ala)
|
rs763830459
|
0.00004
|
NM_014989.7(RIMS1):c.2758G>A (p.Val920Ile)
|
rs376566413
|
0.00004
|
NM_014989.7(RIMS1):c.2890A>G (p.Lys964Glu)
|
rs767699562
|
0.00004
|
NM_014989.7(RIMS1):c.3554+14T>G
|
rs1257931231
|
0.00004
|
NM_014989.7(RIMS1):c.3651G>A (p.Ser1217=)
|
rs758907133
|
0.00004
|
NM_014989.7(RIMS1):c.3730C>G (p.Leu1244Val)
|
rs755561621
|
0.00004
|
NM_014989.7(RIMS1):c.3785C>T (p.Ser1262Leu)
|
rs757548948
|
0.00004
|
NM_014989.7(RIMS1):c.3850+19T>A
|
rs377521076
|
0.00004
|
NM_014989.7(RIMS1):c.4259T>C (p.Val1420Ala)
|
rs373553229
|
0.00004
|
NM_014989.7(RIMS1):c.443C>T (p.Ser148Phe)
|
rs746654049
|
0.00004
|
NM_014989.7(RIMS1):c.4618+10A>T
|
rs754067691
|
0.00004
|
NM_014989.7(RIMS1):c.5021G>A (p.Arg1674Gln)
|
rs374255650
|
0.00004
|
NM_014989.7(RIMS1):c.527G>A (p.Gly176Glu)
|
rs376314364
|
0.00004
|
NM_014989.7(RIMS1):c.708C>T (p.Ser236=)
|
rs774958376
|
0.00004
|
NM_014989.7(RIMS1):c.923G>C (p.Arg308Pro)
|
rs552247029
|
0.00004
|
NM_014989.7(RIMS1):c.*542A>T
|
rs774599192
|
0.00003
|
NM_014989.7(RIMS1):c.1045G>A (p.Glu349Lys)
|
rs866911868
|
0.00003
|
NM_014989.7(RIMS1):c.1228G>A (p.Gly410Ser)
|
rs1341234255
|
0.00003
|
NM_014989.7(RIMS1):c.1384C>A (p.Pro462Thr)
|
rs541997223
|
0.00003
|
NM_014989.7(RIMS1):c.164+18G>A
|
rs542773372
|
0.00003
|
NM_014989.7(RIMS1):c.1748A>G (p.His583Arg)
|
rs371482102
|
0.00003
|
NM_014989.7(RIMS1):c.1757C>T (p.Thr586Met)
|
rs1184964123
|
0.00003
|
NM_014989.7(RIMS1):c.1758G>A (p.Thr586=)
|
rs374761298
|
0.00003
|
NM_014989.7(RIMS1):c.223A>C (p.Asn75His)
|
rs764174237
|
0.00003
|
NM_014989.7(RIMS1):c.2568G>A (p.Ala856=)
|
rs769466745
|
0.00003
|
NM_014989.7(RIMS1):c.2680T>G (p.Ser894Ala)
|
rs765767872
|
0.00003
|
NM_014989.7(RIMS1):c.2739G>A (p.Glu913=)
|
rs765679811
|
0.00003
|
NM_014989.7(RIMS1):c.2957G>A (p.Arg986Lys)
|
rs755633898
|
0.00003
|
NM_014989.7(RIMS1):c.3002T>C (p.Val1001Ala)
|
rs770258909
|
0.00003
|
NM_014989.7(RIMS1):c.3072C>A (p.Pro1024=)
|
rs1321963354
|
0.00003
|
NM_014989.7(RIMS1):c.3144A>G (p.Leu1048=)
|
rs1157529804
|
0.00003
|
NM_014989.7(RIMS1):c.3272C>T (p.Ser1091Leu)
|
rs770557500
|
0.00003
|
NM_014989.7(RIMS1):c.33C>A (p.Arg11=)
|
rs571540836
|
0.00003
|
NM_014989.7(RIMS1):c.3431G>A (p.Arg1144Gln)
|
rs765007580
|
0.00003
|
NM_014989.7(RIMS1):c.3464C>T (p.Ala1155Val)
|
rs754554575
|
0.00003
|
NM_014989.7(RIMS1):c.3565A>G (p.Thr1189Ala)
|
rs768861591
|
0.00003
|
NM_014989.7(RIMS1):c.3713C>T (p.Ala1238Val)
|
rs764984137
|
0.00003
|
NM_014989.7(RIMS1):c.3726G>A (p.Pro1242=)
|
rs201739376
|
0.00003
|
NM_014989.7(RIMS1):c.39C>G (p.Pro13=)
|
rs538562890
|
0.00003
|
NM_014989.7(RIMS1):c.422C>T (p.Ala141Val)
|
rs757314703
|
0.00003
|
NM_014989.7(RIMS1):c.4236C>T (p.Asp1412=)
|
rs1025135186
|
0.00003
|
NM_014989.7(RIMS1):c.4267G>A (p.Val1423Ile)
|
rs755848328
|
0.00003
|
NM_014989.7(RIMS1):c.4317T>C (p.Val1439=)
|
rs372862808
|
0.00003
|
NM_014989.7(RIMS1):c.4599C>T (p.Thr1533=)
|
rs200818374
|
0.00003
|
NM_014989.7(RIMS1):c.738G>A (p.Glu246=)
|
rs571664453
|
0.00003
|
NM_014989.7(RIMS1):c.*1705C>T
|
rs886061722
|
0.00002
|
NM_014989.7(RIMS1):c.1297A>G (p.Thr433Ala)
|
rs996767502
|
0.00002
|
NM_014989.7(RIMS1):c.1324A>C (p.Lys442Gln)
|
rs748842760
|
0.00002
|
NM_014989.7(RIMS1):c.1534T>C (p.Ser512Pro)
|
rs773402330
|
0.00002
|
NM_014989.7(RIMS1):c.1679-18T>G
|
rs369124358
|
0.00002
|
NM_014989.7(RIMS1):c.1723C>T (p.Arg575Trp)
|
rs767118962
|
0.00002
|
NM_014989.7(RIMS1):c.1778G>C (p.Gly593Ala)
|
rs373920978
|
0.00002
|
NM_014989.7(RIMS1):c.1784G>A (p.Arg595Gln)
|
rs368099198
|
0.00002
|
NM_014989.7(RIMS1):c.1823T>C (p.Met608Thr)
|
rs764921828
|
0.00002
|
NM_014989.7(RIMS1):c.1957+15T>C
|
rs185914907
|
0.00002
|
NM_014989.7(RIMS1):c.1987C>A (p.Pro663Thr)
|
rs916352306
|
0.00002
|
NM_014989.7(RIMS1):c.2326C>T (p.Arg776Cys)
|
rs749913369
|
0.00002
|
NM_014989.7(RIMS1):c.2381G>A (p.Ser794Asn)
|
rs1371294816
|
0.00002
|
NM_014989.7(RIMS1):c.2727C>A (p.Ile909=)
|
rs762174705
|
0.00002
|
NM_014989.7(RIMS1):c.2797A>G (p.Ser933Gly)
|
rs761516244
|
0.00002
|
NM_014989.7(RIMS1):c.2843A>G (p.His948Arg)
|
rs758230907
|
0.00002
|
NM_014989.7(RIMS1):c.2977C>G (p.His993Asp)
|
rs1481729611
|
0.00002
|
NM_014989.7(RIMS1):c.3399-8G>A
|
rs770137468
|
0.00002
|
NM_014989.7(RIMS1):c.3482+8T>G
|
rs756305958
|
0.00002
|
NM_014989.7(RIMS1):c.3680G>A (p.Cys1227Tyr)
|
rs745568882
|
0.00002
|
NM_014989.7(RIMS1):c.3737+16C>T
|
rs749572947
|
0.00002
|
NM_014989.7(RIMS1):c.3755G>A (p.Ser1252Asn)
|
rs1270038692
|
0.00002
|
NM_014989.7(RIMS1):c.3798C>G (p.Arg1266=)
|
rs377076067
|
0.00002
|
NM_014989.7(RIMS1):c.3825A>G (p.Pro1275=)
|
rs762649590
|
0.00002
|
NM_014989.7(RIMS1):c.3948C>T (p.Arg1316=)
|
rs577388594
|
0.00002
|
NM_014989.7(RIMS1):c.4057A>G (p.Thr1353Ala)
|
rs886061709
|
0.00002
|
NM_014989.7(RIMS1):c.4073G>A (p.Arg1358His)
|
rs750430793
|
0.00002
|
NM_014989.7(RIMS1):c.4186A>G (p.Met1396Val)
|
rs200994612
|
0.00002
|
NM_014989.7(RIMS1):c.4331G>A (p.Arg1444Gln)
|
rs377214599
|
0.00002
|
NM_014989.7(RIMS1):c.4366+14A>T
|
rs772920772
|
0.00002
|
NM_014989.7(RIMS1):c.4428T>C (p.Ala1476=)
|
rs774797525
|
0.00002
|
NM_014989.7(RIMS1):c.4526G>A (p.Arg1509Gln)
|
rs746144932
|
0.00002
|
NM_014989.7(RIMS1):c.5071C>T (p.Arg1691Ter)
|
rs528476500
|
0.00002
|
NM_014989.7(RIMS1):c.632G>A (p.Arg211Gln)
|
rs765005045
|
0.00002
|
NM_014989.7(RIMS1):c.672A>G (p.Thr224=)
|
rs778273984
|
0.00002
|
NM_014989.7(RIMS1):c.706A>G (p.Ser236Gly)
|
rs771519899
|
0.00002
|
NM_014989.7(RIMS1):c.812+10C>A
|
rs757648777
|
0.00002
|
NM_014989.7(RIMS1):c.*202G>C
|
rs1265999499
|
0.00001
|
NM_014989.7(RIMS1):c.*538C>T
|
rs886061713
|
0.00001
|
NM_014989.7(RIMS1):c.*545C>A
|
rs886061714
|
0.00001
|
NM_014989.7(RIMS1):c.*783G>A
|
rs150486970
|
0.00001
|
NM_014989.7(RIMS1):c.1009G>A (p.Gly337Ser)
|
rs568357069
|
0.00001
|
NM_014989.7(RIMS1):c.1017G>C (p.Ala339=)
|
rs895184023
|
0.00001
|
NM_014989.7(RIMS1):c.1038A>C (p.Arg346Ser)
|
rs535650527
|
0.00001
|
NM_014989.7(RIMS1):c.1096G>A (p.Val366Met)
|
rs1375315005
|
0.00001
|
NM_014989.7(RIMS1):c.1104G>A (p.Pro368=)
|
rs1174407674
|
0.00001
|
NM_014989.7(RIMS1):c.1106C>T (p.Pro369Leu)
|
rs199847427
|
0.00001
|
NM_014989.7(RIMS1):c.1107G>A (p.Pro369=)
|
rs768668079
|
0.00001
|
NM_014989.7(RIMS1):c.110T>C (p.Met37Thr)
|
rs762678879
|
0.00001
|
NM_014989.7(RIMS1):c.1137C>G (p.Ala379=)
|
rs1223993301
|
0.00001
|
NM_014989.7(RIMS1):c.1167C>G (p.Arg389=)
|
rs2048536674
|
0.00001
|
NM_014989.7(RIMS1):c.1174G>A (p.Asp392Asn)
|
rs766056557
|
0.00001
|
NM_014989.7(RIMS1):c.1213C>T (p.Pro405Ser)
|
rs1366874463
|
0.00001
|
NM_014989.7(RIMS1):c.1214C>G (p.Pro405Arg)
|
rs1405075703
|
0.00001
|
NM_014989.7(RIMS1):c.1241C>T (p.Pro414Leu)
|
rs915042810
|
0.00001
|
NM_014989.7(RIMS1):c.1244C>T (p.Ala415Val)
|
rs1187616371
|
0.00001
|
NM_014989.7(RIMS1):c.1261C>T (p.Pro421Ser)
|
rs757531469
|
0.00001
|
NM_014989.7(RIMS1):c.1263G>T (p.Pro421=)
|
rs939428580
|
0.00001
|
NM_014989.7(RIMS1):c.1305G>C (p.Glu435Asp)
|
rs1017235293
|
0.00001
|
NM_014989.7(RIMS1):c.1360C>T (p.His454Tyr)
|
rs750685709
|
0.00001
|
NM_014989.7(RIMS1):c.1386G>A (p.Pro462=)
|
rs946973429
|
0.00001
|
NM_014989.7(RIMS1):c.1439C>G (p.Ser480Trp)
|
rs777283802
|
0.00001
|
NM_014989.7(RIMS1):c.1479G>T (p.Glu493Asp)
|
rs753784735
|
0.00001
|
NM_014989.7(RIMS1):c.1531C>A (p.Pro511Thr)
|
rs769080026
|
0.00001
|
NM_014989.7(RIMS1):c.1556C>T (p.Ser519Phe)
|
rs886061707
|
0.00001
|
NM_014989.7(RIMS1):c.1679-20563C>T
|
rs891525901
|
0.00001
|
NM_014989.7(RIMS1):c.1687G>A (p.Asp563Asn)
|
rs1212149722
|
0.00001
|
NM_014989.7(RIMS1):c.1745C>T (p.Ser582Leu)
|
rs779418222
|
0.00001
|
NM_014989.7(RIMS1):c.1747-19C>T
|
rs1258752192
|
0.00001
|
NM_014989.7(RIMS1):c.1771A>G (p.Lys591Glu)
|
rs1379766279
|
0.00001
|
NM_014989.7(RIMS1):c.1795C>T (p.Arg599Cys)
|
rs745682771
|
0.00001
|
NM_014989.7(RIMS1):c.186G>A (p.Ala62=)
|
rs773456988
|
0.00001
|
NM_014989.7(RIMS1):c.1889G>A (p.Arg630Gln)
|
rs1351490013
|
0.00001
|
NM_014989.7(RIMS1):c.1908C>T (p.Thr636=)
|
rs766715883
|
0.00001
|
NM_014989.7(RIMS1):c.1956A>G (p.Ala652=)
|
rs764354585
|
0.00001
|
NM_014989.7(RIMS1):c.1957+17T>A
|
rs1179472836
|
0.00001
|
NM_014989.7(RIMS1):c.1958-20C>T
|
rs1213243958
|
0.00001
|
NM_014989.7(RIMS1):c.197C>A (p.Ala66Asp)
|
rs767344401
|
0.00001
|
NM_014989.7(RIMS1):c.1994C>T (p.Pro665Leu)
|
rs535265738
|
0.00001
|
NM_014989.7(RIMS1):c.2024T>C (p.Ile675Thr)
|
rs762108313
|
0.00001
|
NM_014989.7(RIMS1):c.2034A>G (p.Glu678=)
|
rs371238404
|
0.00001
|
NM_014989.7(RIMS1):c.2082-17T>C
|
rs1233156060
|
0.00001
|
NM_014989.7(RIMS1):c.2088T>A (p.Ile696=)
|
rs1183448976
|
0.00001
|
NM_014989.7(RIMS1):c.2092C>T (p.Arg698Trp)
|
rs778633409
|
0.00001
|
NM_014989.7(RIMS1):c.2093G>A (p.Arg698Gln)
|
rs746162365
|
0.00001
|
NM_014989.7(RIMS1):c.2129-20A>C
|
rs1371441250
|
0.00001
|
NM_014989.7(RIMS1):c.2166T>C (p.Pro722=)
|
rs1324221824
|
0.00001
|
NM_014989.7(RIMS1):c.2214C>T (p.Ala738=)
|
rs773228374
|
0.00001
|
NM_014989.7(RIMS1):c.2241T>C (p.Ser747=)
|
rs760492397
|
0.00001
|
NM_014989.7(RIMS1):c.2242-11A>G
|
rs375778238
|
0.00001
|
NM_014989.7(RIMS1):c.2261A>G (p.Lys754Arg)
|
rs565763987
|
0.00001
|
NM_014989.7(RIMS1):c.2290C>T (p.Leu764=)
|
rs545435038
|
0.00001
|
NM_014989.7(RIMS1):c.2311G>A (p.Ala771Thr)
|
rs921889672
|
0.00001
|
NM_014989.7(RIMS1):c.2340C>A (p.Pro780=)
|
rs1013902229
|
0.00001
|
NM_014989.7(RIMS1):c.2370A>G (p.Arg790=)
|
rs531497232
|
0.00001
|
NM_014989.7(RIMS1):c.2372+9T>C
|
rs1307382580
|
0.00001
|
NM_014989.7(RIMS1):c.2373-13A>G
|
rs2073024231
|
0.00001
|
NM_014989.7(RIMS1):c.2394C>A (p.Thr798=)
|
rs553452408
|
0.00001
|
NM_014989.7(RIMS1):c.2405A>G (p.Lys802Arg)
|
rs1326597880
|
0.00001
|
NM_014989.7(RIMS1):c.2446T>G (p.Ser816Ala)
|
rs1474776367
|
0.00001
|
NM_014989.7(RIMS1):c.2545-3C>T
|
rs1237532509
|
0.00001
|
NM_014989.7(RIMS1):c.2545-4T>C
|
rs747921988
|
0.00001
|
NM_014989.7(RIMS1):c.2694A>G (p.Leu898=)
|
rs750439884
|
0.00001
|
NM_014989.7(RIMS1):c.2698+13C>G
|
rs1243936510
|
0.00001
|
NM_014989.7(RIMS1):c.2708G>A (p.Arg903Gln)
|
rs776822598
|
0.00001
|
NM_014989.7(RIMS1):c.2827C>G (p.Gln943Glu)
|
rs2076646164
|
0.00001
|
NM_014989.7(RIMS1):c.2834G>A (p.Arg945Lys)
|
rs778829870
|
0.00001
|
NM_014989.7(RIMS1):c.2859A>C (p.Ser953=)
|
rs768201322
|
0.00001
|
NM_014989.7(RIMS1):c.2865T>C (p.Ser955=)
|
rs2076658233
|
0.00001
|
NM_014989.7(RIMS1):c.2868T>A (p.Pro956=)
|
rs2076660465
|
0.00001
|
NM_014989.7(RIMS1):c.2873G>A (p.Arg958His)
|
rs373238402
|
0.00001
|
NM_014989.7(RIMS1):c.2896C>T (p.Arg966Cys)
|
rs764444309
|
0.00001
|
NM_014989.7(RIMS1):c.2902C>T (p.Arg968Cys)
|
rs750178485
|
0.00001
|
NM_014989.7(RIMS1):c.2963G>A (p.Arg988His)
|
rs1282302870
|
0.00001
|
NM_014989.7(RIMS1):c.2988C>T (p.Ala996=)
|
rs746198807
|
0.00001
|
NM_014989.7(RIMS1):c.2993G>A (p.Arg998Gln)
|
rs1414432029
|
0.00001
|
NM_014989.7(RIMS1):c.3003T>C (p.Val1001=)
|
rs776155814
|
0.00001
|
NM_014989.7(RIMS1):c.308G>A (p.Arg103Gln)
|
rs771165778
|
0.00001
|
NM_014989.7(RIMS1):c.3112A>G (p.Thr1038Ala)
|
rs760584050
|
0.00001
|
NM_014989.7(RIMS1):c.3117-15G>A
|
rs760467719
|
0.00001
|
NM_014989.7(RIMS1):c.3168G>A (p.Gln1056=)
|
rs1489346752
|
0.00001
|
NM_014989.7(RIMS1):c.3179A>C (p.His1060Pro)
|
rs777807498
|
0.00001
|
NM_014989.7(RIMS1):c.3194+20G>A
|
rs2079844903
|
0.00001
|
NM_014989.7(RIMS1):c.3203T>G (p.Leu1068Arg)
|
rs753857836
|
0.00001
|
NM_014989.7(RIMS1):c.3221C>T (p.Thr1074Ile)
|
rs779032928
|
0.00001
|
NM_014989.7(RIMS1):c.3235A>G (p.Arg1079Gly)
|
rs1439060096
|
0.00001
|
NM_014989.7(RIMS1):c.3249C>T (p.Ser1083=)
|
rs769791945
|
0.00001
|
NM_014989.7(RIMS1):c.3263G>A (p.Cys1088Tyr)
|
rs555990552
|
0.00001
|
NM_014989.7(RIMS1):c.3277G>A (p.Val1093Ile)
|
rs767219735
|
0.00001
|
NM_014989.7(RIMS1):c.3279A>G (p.Val1093=)
|
rs375979731
|
0.00001
|
NM_014989.7(RIMS1):c.3281T>G (p.Leu1094Trp)
|
rs761114297
|
0.00001
|
NM_014989.7(RIMS1):c.3301C>T (p.Leu1101=)
|
rs765280842
|
0.00001
|
NM_014989.7(RIMS1):c.3335C>T (p.Ala1112Val)
|
rs1309378321
|
0.00001
|
NM_014989.7(RIMS1):c.3363A>G (p.Arg1121=)
|
rs1469027478
|
0.00001
|
NM_014989.7(RIMS1):c.3401G>C (p.Gly1134Ala)
|
rs766454945
|
0.00001
|
NM_014989.7(RIMS1):c.3423T>C (p.Asp1141=)
|
rs1413941974
|
0.00001
|
NM_014989.7(RIMS1):c.3461A>G (p.His1154Arg)
|
rs1243887480
|
0.00001
|
NM_014989.7(RIMS1):c.3495G>A (p.Lys1165=)
|
rs749648250
|
0.00001
|
NM_014989.7(RIMS1):c.3554+4G>A
|
rs981668271
|
0.00001
|
NM_014989.7(RIMS1):c.3555-8T>C
|
rs780240075
|
0.00001
|
NM_014989.7(RIMS1):c.3589G>A (p.Ala1197Thr)
|
rs770686490
|
0.00001
|
NM_014989.7(RIMS1):c.3619A>G (p.Ile1207Val)
|
rs752187263
|
0.00001
|
NM_014989.7(RIMS1):c.3700C>T (p.Pro1234Ser)
|
rs376024280
|
0.00001
|
NM_014989.7(RIMS1):c.3737+17C>G
|
rs771849903
|
0.00001
|
NM_014989.7(RIMS1):c.3737G>C (p.Arg1246Thr)
|
rs575184601
|
0.00001
|
NM_014989.7(RIMS1):c.3738-15G>A
|
rs1295057192
|
0.00001
|
NM_014989.7(RIMS1):c.3738-20G>A
|
rs771118720
|
0.00001
|
NM_014989.7(RIMS1):c.3767C>T (p.Ser1256Phe)
|
rs867013808
|
0.00001
|
NM_014989.7(RIMS1):c.3777A>G (p.Ala1259=)
|
rs371867783
|
0.00001
|
NM_014989.7(RIMS1):c.3791G>A (p.Ser1264Asn)
|
rs1044722458
|
0.00001
|
NM_014989.7(RIMS1):c.3832A>G (p.Ser1278Gly)
|
rs1055696778
|
0.00001
|
NM_014989.7(RIMS1):c.3851-4G>A
|
rs764588841
|
0.00001
|
NM_014989.7(RIMS1):c.3856T>A (p.Leu1286Ile)
|
rs930435911
|
0.00001
|
NM_014989.7(RIMS1):c.3872G>A (p.Arg1291Gln)
|
rs183670898
|
0.00001
|
NM_014989.7(RIMS1):c.3902G>A (p.Arg1301Gln)
|
rs765299650
|
0.00001
|
NM_014989.7(RIMS1):c.3946C>T (p.Arg1316Cys)
|
rs749244330
|
0.00001
|
NM_014989.7(RIMS1):c.3953A>G (p.Gln1318Arg)
|
rs745512624
|
0.00001
|
NM_014989.7(RIMS1):c.4003G>A (p.Val1335Ile)
|
rs768977249
|
0.00001
|
NM_014989.7(RIMS1):c.402T>C (p.Tyr134=)
|
rs767877250
|
0.00001
|
NM_014989.7(RIMS1):c.4039G>A (p.Val1347Ile)
|
rs942946408
|
0.00001
|
NM_014989.7(RIMS1):c.4049T>C (p.Ile1350Thr)
|
rs2095617894
|
0.00001
|
NM_014989.7(RIMS1):c.4050T>A (p.Ile1350=)
|
rs759878173
|
0.00001
|
NM_014989.7(RIMS1):c.4072C>T (p.Arg1358Cys)
|
rs765099299
|
0.00001
|
NM_014989.7(RIMS1):c.4111C>T (p.Arg1371Cys)
|
rs995769455
|
0.00001
|
NM_014989.7(RIMS1):c.4158A>T (p.Arg1386Ser)
|
rs905742345
|
0.00001
|
NM_014989.7(RIMS1):c.4218C>T (p.Tyr1406=)
|
rs773008896
|
0.00001
|
NM_014989.7(RIMS1):c.4261G>C (p.Gly1421Arg)
|
rs375678476
|
0.00001
|
NM_014989.7(RIMS1):c.4295C>A (p.Ser1432Tyr)
|
rs1243030421
|
0.00001
|
NM_014989.7(RIMS1):c.4306G>A (p.Ala1436Thr)
|
rs746442447
|
0.00001
|
NM_014989.7(RIMS1):c.436C>T (p.Arg146Cys)
|
rs1244940591
|
0.00001
|
NM_014989.7(RIMS1):c.4391G>C (p.Ser1464Thr)
|
rs1405665405
|
0.00001
|
NM_014989.7(RIMS1):c.4400A>G (p.Gln1467Arg)
|
rs1340040382
|
0.00001
|
NM_014989.7(RIMS1):c.4416A>G (p.Thr1472=)
|
rs1204154365
|
0.00001
|
NM_014989.7(RIMS1):c.4442T>C (p.Met1481Thr)
|
rs200471435
|
0.00001
|
NM_014989.7(RIMS1):c.4455G>A (p.Pro1485=)
|
rs765647581
|
0.00001
|
NM_014989.7(RIMS1):c.4460G>A (p.Arg1487Gln)
|
rs1195456228
|
0.00001
|
NM_014989.7(RIMS1):c.447A>G (p.Leu149=)
|
rs1468734756
|
0.00001
|
NM_014989.7(RIMS1):c.4512A>G (p.Ile1504Met)
|
rs746893761
|
0.00001
|
NM_014989.7(RIMS1):c.4581G>A (p.Gln1527=)
|
rs1345346015
|
0.00001
|
NM_014989.7(RIMS1):c.458A>C (p.Asn153Thr)
|
rs552482751
|
0.00001
|
NM_014989.7(RIMS1):c.4590C>A (p.Gly1530=)
|
rs1376609475
|
0.00001
|
NM_014989.7(RIMS1):c.459C>T (p.Asn153=)
|
rs1238525429
|
0.00001
|
NM_014989.7(RIMS1):c.460-17T>C
|
rs773824677
|
0.00001
|
NM_014989.7(RIMS1):c.463G>A (p.Asp155Asn)
|
rs771667572
|
0.00001
|
NM_014989.7(RIMS1):c.4665G>A (p.Val1555=)
|
rs375475877
|
0.00001
|
NM_014989.7(RIMS1):c.471+8T>G
|
rs764381785
|
0.00001
|
NM_014989.7(RIMS1):c.4721-10C>T
|
rs763313558
|
0.00001
|
NM_014989.7(RIMS1):c.477G>A (p.Met159Ile)
|
rs371251844
|
0.00001
|
NM_014989.7(RIMS1):c.4782A>T (p.Arg1594Ser)
|
rs763952135
|
0.00001
|
NM_014989.7(RIMS1):c.4798C>T (p.Leu1600Phe)
|
rs756721052
|
0.00001
|
NM_014989.7(RIMS1):c.4827T>G (p.Val1609=)
|
rs202151519
|
0.00001
|
NM_014989.7(RIMS1):c.4842A>G (p.Pro1614=)
|
rs376289027
|
0.00001
|
NM_014989.7(RIMS1):c.4968C>T (p.Tyr1656=)
|
rs2098829208
|
0.00001
|
NM_014989.7(RIMS1):c.4999C>A (p.Pro1667Thr)
|
rs371351752
|
0.00001
|
NM_014989.7(RIMS1):c.5005C>T (p.Leu1669Phe)
|
rs2098829571
|
0.00001
|
NM_014989.7(RIMS1):c.5024G>A (p.Arg1675Gln)
|
rs767732863
|
0.00001
|
NM_014989.7(RIMS1):c.5072G>A (p.Arg1691Gln)
|
rs749878015
|
0.00001
|
NM_014989.7(RIMS1):c.542G>A (p.Gly181Glu)
|
rs1262321010
|
0.00001
|
NM_014989.7(RIMS1):c.606T>G (p.Ser202=)
|
rs774277304
|
0.00001
|
NM_014989.7(RIMS1):c.612A>G (p.Val204=)
|
rs767598016
|
0.00001
|
NM_014989.7(RIMS1):c.647C>T (p.Ser216Leu)
|
rs373901709
|
0.00001
|
NM_014989.7(RIMS1):c.721A>G (p.Arg241Gly)
|
rs1300461389
|
0.00001
|
NM_014989.7(RIMS1):c.744G>A (p.Ser248=)
|
rs751517177
|
0.00001
|
NM_014989.7(RIMS1):c.813-3T>C
|
rs376288569
|
0.00001
|
NM_014989.7(RIMS1):c.876C>T (p.Arg292=)
|
rs776775023
|
0.00001
|
NM_014989.7(RIMS1):c.895C>G (p.Gln299Glu)
|
rs527686277
|
0.00001
|
NM_014989.7(RIMS1):c.900C>G (p.Pro300=)
|
rs774160444
|
0.00001
|
NM_014989.7(RIMS1):c.917A>C (p.Glu306Ala)
|
rs760207205
|
0.00001
|
NM_014989.7(RIMS1):c.976G>A (p.Asp326Asn)
|
rs2048522784
|
0.00001
|
GRCh37/hg19 6q13(chr6:72181114-72765924)x3
|
|
|
GRCh37/hg19 6q13(chr6:72863880-72873297)x1
|
|
|
GRCh37/hg19 6q13(chr6:72863880-72873653)x1
|
|
|
GRCh37/hg19 6q13(chr6:72866259-72873297)x3
|
|
|
GRCh37/hg19 6q13(chr6:72866914-72873297)x3
|
|
|
GRCh37/hg19 6q13(chr6:72868178-72873653)x3
|
|
|
GRCh37/hg19 6q13(chr6:72923329-73077688)x3
|
|
|
NC_000006.11:g.(?_72596727)_(72984155_?)dup
|
|
|
NC_000006.11:g.(?_72678666)_(72678786_?)del
|
|
|
NC_000006.11:g.(?_72889258)_(73023395_?)del
|
|
|
NC_000006.11:g.(?_72974678)_(72975206_?)del
|
|
|
NC_000006.11:g.(?_72984032)_(73001769_?)del
|
|
|
NC_000006.11:g.(?_73016941)_(73023395_?)dup
|
|
|
NM_014989.7(RIMS1):c.*1134C>T
|
rs1175994935
|
|
NM_014989.7(RIMS1):c.*1230A>C
|
rs1379307160
|
|
NM_014989.7(RIMS1):c.*1355C>T
|
rs886061716
|
|
NM_014989.7(RIMS1):c.*1446A>G
|
rs886061719
|
|
NM_014989.7(RIMS1):c.*1453dup
|
rs537509888
|
|
NM_014989.7(RIMS1):c.*1457dup
|
rs886061718
|
|
NM_014989.7(RIMS1):c.*189A>T
|
rs1409375849
|
|
NM_014989.7(RIMS1):c.*2049T>A
|
rs542135172
|
|
NM_014989.7(RIMS1):c.*2357C>G
|
rs2098844396
|
|
NM_014989.7(RIMS1):c.*2429G>A
|
rs570975514
|
|
NM_014989.7(RIMS1):c.*517dup
|
rs201958591
|
|
NM_014989.7(RIMS1):c.*864G>T
|
rs886061715
|
|
NM_014989.7(RIMS1):c.*941T>C
|
rs2098836015
|
|
NM_014989.7(RIMS1):c.-181G>A
|
rs886061704
|
|
NM_014989.7(RIMS1):c.-182_-180dup
|
rs555947867
|
|
NM_014989.7(RIMS1):c.101A>G (p.Asn34Ser)
|
|
|
NM_014989.7(RIMS1):c.1024G>A (p.Glu342Lys)
|
|
|
NM_014989.7(RIMS1):c.1031_1036dup (p.Gln345_Arg346insLysGln)
|
|
|
NM_014989.7(RIMS1):c.1044G>C (p.Glu348Asp)
|
|
|
NM_014989.7(RIMS1):c.1046A>C (p.Glu349Ala)
|
rs763316706
|
|
NM_014989.7(RIMS1):c.1046A>G (p.Glu349Gly)
|
|
|
NM_014989.7(RIMS1):c.104T>C (p.Ile35Thr)
|
rs1767960073
|
|
NM_014989.7(RIMS1):c.1066C>A (p.Arg356Ser)
|
|
|
NM_014989.7(RIMS1):c.1077G>A (p.Pro359=)
|
|
|
NM_014989.7(RIMS1):c.1085C>T (p.Ala362Val)
|
|
|
NM_014989.7(RIMS1):c.1100A>C (p.Lys367Thr)
|
rs2153970308
|
|
NM_014989.7(RIMS1):c.1124T>C (p.Met375Thr)
|
rs2048533179
|
|
NM_014989.7(RIMS1):c.1127_1128delinsTA (p.Arg376Leu)
|
|
|
NM_014989.7(RIMS1):c.1136C>T (p.Ala379Val)
|
|
|
NM_014989.7(RIMS1):c.1139G>A (p.Arg380Gln)
|
|
|
NM_014989.7(RIMS1):c.1149C>G (p.Arg383=)
|
|
|
NM_014989.7(RIMS1):c.1151C>T (p.Ala384Val)
|
rs1233906052
|
|
NM_014989.7(RIMS1):c.1152C>T (p.Ala384=)
|
rs2153970357
|
|
NM_014989.7(RIMS1):c.1161G>C (p.Glu387Asp)
|
|
|
NM_014989.7(RIMS1):c.1177G>C (p.Val393Leu)
|
|
|
NM_014989.7(RIMS1):c.1183C>A (p.Leu395Ile)
|
|
|
NM_014989.7(RIMS1):c.1185_1211del (p.Arg397_Pro405del)
|
rs929895906
|
|
NM_014989.7(RIMS1):c.1187C>T (p.Pro396Leu)
|
rs2153970380
|
|
NM_014989.7(RIMS1):c.1189C>T (p.Arg397Cys)
|
rs2048538281
|
|
NM_014989.7(RIMS1):c.1190G>A (p.Arg397His)
|
|
|
NM_014989.7(RIMS1):c.1193C>G (p.Thr398Ser)
|
|
|
NM_014989.7(RIMS1):c.1194C>T (p.Thr398=)
|
rs1480817024
|
|
NM_014989.7(RIMS1):c.1199C>T (p.Ala400Val)
|
|
|
NM_014989.7(RIMS1):c.1204G>C (p.Ala402Pro)
|
|
|
NM_014989.7(RIMS1):c.1204G>T (p.Ala402Ser)
|
|
|
NM_014989.7(RIMS1):c.1213C>G (p.Pro405Ala)
|
rs1366874463
|
|
NM_014989.7(RIMS1):c.1219G>A (p.Gly407Ser)
|
|
|
NM_014989.7(RIMS1):c.1224G>C (p.Lys408Asn)
|
|
|
NM_014989.7(RIMS1):c.1226C>T (p.Ala409Val)
|
|
|
NM_014989.7(RIMS1):c.1227C>T (p.Ala409=)
|
rs2048541756
|
|
NM_014989.7(RIMS1):c.123C>T (p.Asp41=)
|
rs2150296763
|
|
NM_014989.7(RIMS1):c.1240C>T (p.Pro414Ser)
|
rs1245468267
|
|
NM_014989.7(RIMS1):c.1241C>G (p.Pro414Arg)
|
rs915042810
|
|
NM_014989.7(RIMS1):c.1243_1257dup (p.Ala419_Ser420insAlaAlaAlaArgAla)
|
|
|
NM_014989.7(RIMS1):c.1245G>A (p.Ala415=)
|
rs1255182222
|
|
NM_014989.7(RIMS1):c.1247C>T (p.Ala416Val)
|
|
|
NM_014989.7(RIMS1):c.1249G>A (p.Ala417Thr)
|
rs1261413990
|
|
NM_014989.7(RIMS1):c.1250C>A (p.Ala417Asp)
|
rs946852723
|
|
NM_014989.7(RIMS1):c.1251C>A (p.Ala417=)
|
rs2153970465
|
|
NM_014989.7(RIMS1):c.1252A>G (p.Arg418Gly)
|
|
|
NM_014989.7(RIMS1):c.1256_1267dup (p.Ala419_Pro422dup)
|
rs2153970468
|
|
NM_014989.7(RIMS1):c.1259C>T (p.Ser420Leu)
|
rs1318051819
|
|
NM_014989.7(RIMS1):c.1265_1276dup (p.Pro422_Pro425dup)
|
rs1386779788
|
|
NM_014989.7(RIMS1):c.1266_1267delinsCT (p.Asp423Tyr)
|
|
|
NM_014989.7(RIMS1):c.1274C>T (p.Pro425Leu)
|
|
|
NM_014989.7(RIMS1):c.1276C>A (p.Arg426=)
|
rs2048546656
|
|
NM_014989.7(RIMS1):c.1279dup (p.Ala427fs)
|
|
|
NM_014989.7(RIMS1):c.1285T>G (p.Ser429Ala)
|
|
|
NM_014989.7(RIMS1):c.1287G>A (p.Ser429=)
|
|
|
NM_014989.7(RIMS1):c.1287G>C (p.Ser429=)
|
rs895110491
|
|
NM_014989.7(RIMS1):c.1308C>G (p.Thr436=)
|
rs1350578810
|
|
NM_014989.7(RIMS1):c.1309A>G (p.Arg437Gly)
|
rs2048549775
|
|
NM_014989.7(RIMS1):c.1314G>A (p.Ala438=)
|
|
|
NM_014989.7(RIMS1):c.1315C>G (p.Pro439Ala)
|
rs1311976270
|
|
NM_014989.7(RIMS1):c.1319G>A (p.Gly440Asp)
|
|
|
NM_014989.7(RIMS1):c.1319G>T (p.Gly440Val)
|
|
|
NM_014989.7(RIMS1):c.1320C>T (p.Gly440=)
|
|
|
NM_014989.7(RIMS1):c.1326G>A (p.Lys442=)
|
rs574729806
|
|
NM_014989.7(RIMS1):c.1328_1329delinsCC (p.Gln443Pro)
|
rs2048551875
|
|
NM_014989.7(RIMS1):c.1332A>G (p.Leu444=)
|
|
|
NM_014989.7(RIMS1):c.1334C>G (p.Thr445Arg)
|
|
|
NM_014989.7(RIMS1):c.1335G>A (p.Thr445=)
|
rs1224473981
|
|
NM_014989.7(RIMS1):c.1341C>T (p.His447=)
|
|
|
NM_014989.7(RIMS1):c.1345C>T (p.Pro449Ser)
|
|
|
NM_014989.7(RIMS1):c.1346C>T (p.Pro449Leu)
|
|
|
NM_014989.7(RIMS1):c.1353G>A (p.Ala451=)
|
rs753920737
|
|
NM_014989.7(RIMS1):c.1353G>T (p.Ala451=)
|
rs753920737
|
|
NM_014989.7(RIMS1):c.1360C>G (p.His454Asp)
|
rs750685709
|
|
NM_014989.7(RIMS1):c.1361A>G (p.His454Arg)
|
|
|
NM_014989.7(RIMS1):c.1362T>C (p.His454=)
|
rs758749274
|
|
NM_014989.7(RIMS1):c.1362T>G (p.His454Gln)
|
|
|
NM_014989.7(RIMS1):c.1364G>A (p.Gly455Glu)
|
rs2048555576
|
|
NM_014989.7(RIMS1):c.1366C>G (p.Pro456Ala)
|
rs2048555679
|
|
NM_014989.7(RIMS1):c.1367C>G (p.Pro456Arg)
|
|
|
NM_014989.7(RIMS1):c.1375G>T (p.Ala459Ser)
|
|
|
NM_014989.7(RIMS1):c.1380A>C (p.Glu460Asp)
|
|
|
NM_014989.7(RIMS1):c.1382C>T (p.Ala461Val)
|
rs886061706
|
|
NM_014989.7(RIMS1):c.1384C>G (p.Pro462Ala)
|
|
|
NM_014989.7(RIMS1):c.1384C>T (p.Pro462Ser)
|
|
|
NM_014989.7(RIMS1):c.1385C>G (p.Pro462Arg)
|
rs560642940
|
|
NM_014989.7(RIMS1):c.1386G>T (p.Pro462=)
|
rs946973429
|
|
NM_014989.7(RIMS1):c.138GGA[1] (p.Glu48del)
|
|
|
NM_014989.7(RIMS1):c.1391_1405del (p.Leu464_Glu468del)
|
rs1562517260
|
|
NM_014989.7(RIMS1):c.1394A>C (p.Lys465Thr)
|
|
|
NM_014989.7(RIMS1):c.1395A>C (p.Lys465Asn)
|
|
|
NM_014989.7(RIMS1):c.1404G>T (p.Glu468Asp)
|
|
|
NM_014989.7(RIMS1):c.1411A>C (p.Arg471=)
|
|
|
NM_014989.7(RIMS1):c.1419G>C (p.Gln473His)
|
|
|
NM_014989.7(RIMS1):c.1432C>T (p.Pro478Ser)
|
rs764468029
|
|
NM_014989.7(RIMS1):c.1446C>T (p.Val482=)
|
|
|
NM_014989.7(RIMS1):c.144A>T (p.Glu48Asp)
|
rs2150296877
|
|
NM_014989.7(RIMS1):c.1450A>G (p.Met484Val)
|
rs772371424
|
|
NM_014989.7(RIMS1):c.1453C>G (p.Arg485Gly)
|
rs940684990
|
|
NM_014989.7(RIMS1):c.1453C>T (p.Arg485Trp)
|
|
|
NM_014989.7(RIMS1):c.1476G>A (p.Val492=)
|
|
|
NM_014989.7(RIMS1):c.1477G>C (p.Glu493Gln)
|
rs796052194
|
|
NM_014989.7(RIMS1):c.1481C>A (p.Thr494Asn)
|
rs2153970664
|
|
NM_014989.7(RIMS1):c.1483A>C (p.Met495Leu)
|
|
|
NM_014989.7(RIMS1):c.1487T>C (p.Leu496Pro)
|
rs2048566694
|
|
NM_014989.7(RIMS1):c.1491G>A (p.Arg497=)
|
|
|
NM_014989.7(RIMS1):c.1494C>T (p.Asn498=)
|
|
|
NM_014989.7(RIMS1):c.1507T>C (p.Ser503Pro)
|
rs2153970683
|
|
NM_014989.7(RIMS1):c.1513C>T (p.Gln505Ter)
|
rs747271770
|
|
NM_014989.7(RIMS1):c.1524G>A (p.Ser508=)
|
rs1472103002
|
|
NM_014989.7(RIMS1):c.1541C>G (p.Pro514Arg)
|
rs2153970711
|
|
NM_014989.7(RIMS1):c.1547C>T (p.Pro516Leu)
|
|
|
NM_014989.7(RIMS1):c.1548G>A (p.Pro516=)
|
rs760326366
|
|
NM_014989.7(RIMS1):c.1549C>T (p.His517Tyr)
|
|
|
NM_014989.7(RIMS1):c.1551C>T (p.His517=)
|
rs2153970716
|
|
NM_014989.7(RIMS1):c.1566C>T (p.Gly522=)
|
|
|
NM_014989.7(RIMS1):c.1567G>T (p.Gly523Cys)
|
rs778848762
|
|
NM_014989.7(RIMS1):c.164+17C>G
|
|
|
NM_014989.7(RIMS1):c.164+20G>A
|
|
|
NM_014989.7(RIMS1):c.164A>G (p.Lys55Arg)
|
rs777506314
|
|
NM_014989.7(RIMS1):c.164A>T (p.Lys55Met)
|
rs777506314
|
|
NM_014989.7(RIMS1):c.165-11A>G
|
|
|
NM_014989.7(RIMS1):c.165-18_165-15del
|
rs2151337243
|
|
NM_014989.7(RIMS1):c.165-3del
|
rs766721792
|
|
NM_014989.7(RIMS1):c.1679-11G>A
|
|
|
NM_014989.7(RIMS1):c.1679-12del
|
|
|
NM_014989.7(RIMS1):c.1679-12dup
|
|
|
NM_014989.7(RIMS1):c.1679-16551C>T
|
rs1012788466
|
|
NM_014989.7(RIMS1):c.1679-20550G>A
|
|
|
NM_014989.7(RIMS1):c.1679-20587G>A
|
rs181193740
|
|
NM_014989.7(RIMS1):c.1679-20589C>T
|
|
|
NM_014989.7(RIMS1):c.1679-20601G>A
|
rs2054153366
|
|
NM_014989.7(RIMS1):c.1679-6G>C
|
rs2154085357
|
|
NM_014989.7(RIMS1):c.1679-9A>G
|
rs1589870304
|
|
NM_014989.7(RIMS1):c.1679-9A>T
|
rs1589870304
|
|
NM_014989.7(RIMS1):c.1681G>A (p.Asp561Asn)
|
rs2062948314
|
|
NM_014989.7(RIMS1):c.1691A>T (p.Tyr564Phe)
|
|
|
NM_014989.7(RIMS1):c.1700T>G (p.Leu567Trp)
|
|
|
NM_014989.7(RIMS1):c.1703A>C (p.Asp568Ala)
|
|
|
NM_014989.7(RIMS1):c.1704T>C (p.Asp568=)
|
rs886061708
|
|
NM_014989.7(RIMS1):c.1704T>G (p.Asp568Glu)
|
rs886061708
|
|
NM_014989.7(RIMS1):c.1708G>A (p.Ala570Thr)
|
|
|
NM_014989.7(RIMS1):c.1713G>A (p.Thr571=)
|
rs982149443
|
|
NM_014989.7(RIMS1):c.1719C>T (p.His573=)
|
|
|
NM_014989.7(RIMS1):c.1721G>A (p.Ser574Asn)
|
|
|
NM_014989.7(RIMS1):c.1723C>G (p.Arg575Gly)
|
rs767118962
|
|
NM_014989.7(RIMS1):c.1725G>A (p.Arg575=)
|
|
|
NM_014989.7(RIMS1):c.1729A>G (p.Thr577Ala)
|
rs1460349303
|
|
NM_014989.7(RIMS1):c.1731A>G (p.Thr577=)
|
rs754194607
|
|
NM_014989.7(RIMS1):c.1734A>G (p.Ser578=)
|
rs960564097
|
|
NM_014989.7(RIMS1):c.1735C>A (p.Pro579Thr)
|
|
|
NM_014989.7(RIMS1):c.1738A>G (p.Ile580Val)
|
|
|
NM_014989.7(RIMS1):c.1765C>A (p.Pro589Thr)
|
rs2063719341
|
|
NM_014989.7(RIMS1):c.1778G>A (p.Gly593Glu)
|
rs373920978
|
|
NM_014989.7(RIMS1):c.1796G>A (p.Arg599His)
|
|
|
NM_014989.7(RIMS1):c.179A>T (p.Asp60Val)
|
rs1488436859
|
|
NM_014989.7(RIMS1):c.1803T>C (p.Ile601=)
|
|
|
NM_014989.7(RIMS1):c.1807A>C (p.Asn603His)
|
rs2063731646
|
|
NM_014989.7(RIMS1):c.1833C>T (p.Asp611=)
|
rs1589942630
|
|
NM_014989.7(RIMS1):c.1845G>A (p.Leu615=)
|
|
|
NM_014989.7(RIMS1):c.184G>A (p.Ala62Thr)
|
rs1192278460
|
|
NM_014989.7(RIMS1):c.1858-19T>C
|
|
|
NM_014989.7(RIMS1):c.1858-20A>T
|
rs1223637411
|
|
NM_014989.7(RIMS1):c.1890A>C (p.Arg630=)
|
rs1590028055
|
|
NM_014989.7(RIMS1):c.1891C>G (p.Leu631Val)
|
rs2064905352
|
|
NM_014989.7(RIMS1):c.1892T>C (p.Leu631Pro)
|
rs2064906287
|
|
NM_014989.7(RIMS1):c.1909A>C (p.Lys637Gln)
|
|
|
NM_014989.7(RIMS1):c.190C>A (p.Pro64Thr)
|
|
|
NM_014989.7(RIMS1):c.1920G>A (p.Lys640=)
|
|
|
NM_014989.7(RIMS1):c.1944A>G (p.Gly648=)
|
|
|
NM_014989.7(RIMS1):c.1957+10C>A
|
rs376761576
|
|
NM_014989.7(RIMS1):c.1957+5dup
|
rs755711003
|
|
NM_014989.7(RIMS1):c.1958-10dup
|
rs761135970
|
|
NM_014989.7(RIMS1):c.1958-18C>G
|
|
|
NM_014989.7(RIMS1):c.1958-18C>T
|
rs2067300125
|
|
NM_014989.7(RIMS1):c.1958-18del
|
rs2154113515
|
|
NM_014989.7(RIMS1):c.1962T>C (p.Asp654=)
|
|
|
NM_014989.7(RIMS1):c.1963G>C (p.Glu655Gln)
|
|
|
NM_014989.7(RIMS1):c.1989C>G (p.Pro663=)
|
rs1590192769
|
|
NM_014989.7(RIMS1):c.1990C>G (p.Leu664Val)
|
|
|
NM_014989.7(RIMS1):c.1992G>A (p.Leu664=)
|
|
|
NM_014989.7(RIMS1):c.1999G>A (p.Ala667Thr)
|
|
|
NM_014989.7(RIMS1):c.19C>A (p.Pro7Thr)
|
|
|
NM_014989.7(RIMS1):c.2051A>G (p.Gln684Arg)
|
rs2154113778
|
|
NM_014989.7(RIMS1):c.2074C>T (p.Pro692Ser)
|
rs2067341321
|
|
NM_014989.7(RIMS1):c.2075C>T (p.Pro692Leu)
|
|
|
NM_014989.7(RIMS1):c.2077A>G (p.Ile693Val)
|
rs765521036
|
|
NM_014989.7(RIMS1):c.2081+15del
|
|
|
NM_014989.7(RIMS1):c.2082-18A>G
|
|
|
NM_014989.7(RIMS1):c.2082-3del
|
|
|
NM_014989.7(RIMS1):c.2086A>C (p.Ile696Leu)
|
rs201709343
|
|
NM_014989.7(RIMS1):c.2107T>A (p.Ser703Thr)
|
rs772471723
|
|
NM_014989.7(RIMS1):c.2128+16C>A
|
|
|
NM_014989.7(RIMS1):c.2128+16C>T
|
|
|
NM_014989.7(RIMS1):c.2153A>G (p.Lys718Arg)
|
|
|
NM_014989.7(RIMS1):c.2155A>G (p.Met719Val)
|
|
|
NM_014989.7(RIMS1):c.2170A>G (p.Ile724Val)
|
|
|
NM_014989.7(RIMS1):c.2175T>C (p.Ser725=)
|
rs2154129173
|
|
NM_014989.7(RIMS1):c.2176G>A (p.Val726Ile)
|
|
|
NM_014989.7(RIMS1):c.2194C>T (p.Pro732Ser)
|
rs2154129232
|
|
NM_014989.7(RIMS1):c.2221G>A (p.Val741Ile)
|
|
|
NM_014989.7(RIMS1):c.2236C>T (p.Leu746Phe)
|
|
|
NM_014989.7(RIMS1):c.2241+14G>A
|
rs1590432210
|
|
NM_014989.7(RIMS1):c.2241+7A>T
|
rs763963051
|
|
NM_014989.7(RIMS1):c.2241+8_2241+16del
|
rs2071112858
|
|
NM_014989.7(RIMS1):c.2242-14C>T
|
|
|
NM_014989.7(RIMS1):c.2242-15C>T
|
|
|
NM_014989.7(RIMS1):c.2258A>T (p.Asp753Val)
|
rs2154134123
|
|
NM_014989.7(RIMS1):c.2269C>T (p.His757Tyr)
|
rs2072637990
|
|
NM_014989.7(RIMS1):c.227A>T (p.Gln76Leu)
|
rs753365349
|
|
NM_014989.7(RIMS1):c.2316A>C (p.Arg772Ser)
|
|
|
NM_014989.7(RIMS1):c.231_232delinsTT (p.His78Tyr)
|
rs2151338336
|
|
NM_014989.7(RIMS1):c.2327G>A (p.Arg776His)
|
|
|
NM_014989.7(RIMS1):c.2328T>C (p.Arg776=)
|
|
|
NM_014989.7(RIMS1):c.2354A>T (p.Tyr785Phe)
|
rs2154134384
|
|
NM_014989.7(RIMS1):c.2372+15del
|
|
|
NM_014989.7(RIMS1):c.2372+27del
|
rs199898147
|
|
NM_014989.7(RIMS1):c.2372+27dup
|
rs199898147
|
|
NM_014989.7(RIMS1):c.2373-6T>C
|
rs2154135558
|
|
NM_014989.7(RIMS1):c.2379A>C (p.Lys793Asn)
|
|
|
NM_014989.7(RIMS1):c.237A>G (p.Gln79=)
|
|
|
NM_014989.7(RIMS1):c.238C>T (p.Pro80Ser)
|
rs780463911
|
|
NM_014989.7(RIMS1):c.2399C>T (p.Thr800Ile)
|
rs2154135608
|
|
NM_014989.7(RIMS1):c.2400A>G (p.Thr800=)
|
|
|
NM_014989.7(RIMS1):c.2407A>G (p.Lys803Glu)
|
rs2154135629
|
|
NM_014989.7(RIMS1):c.2433A>G (p.Gln811=)
|
|
|
NM_014989.7(RIMS1):c.2440G>A (p.Val814Ile)
|
|
|
NM_014989.7(RIMS1):c.244C>T (p.Pro82Ser)
|
|
|
NM_014989.7(RIMS1):c.2452G>A (p.Val818Ile)
|
rs1319510320
|
|
NM_014989.7(RIMS1):c.2454A>G (p.Val818=)
|
|
|
NM_014989.7(RIMS1):c.246-6G>A
|
|
|
NM_014989.7(RIMS1):c.2464G>A (p.Asp822Asn)
|
|
|
NM_014989.7(RIMS1):c.2477G>A (p.Arg826Gln)
|
|
|
NM_014989.7(RIMS1):c.2500G>C (p.Asp834His)
|
|
|
NM_014989.7(RIMS1):c.2515C>A (p.Gln839Lys)
|
|
|
NM_014989.7(RIMS1):c.2532A>T (p.Glu844Asp)
|
rs2154135847
|
|
NM_014989.7(RIMS1):c.2544+18A>G
|
rs2154135919
|
|
NM_014989.7(RIMS1):c.2544+19A>G
|
|
|
NM_014989.7(RIMS1):c.2544+3G>A
|
|
|
NM_014989.7(RIMS1):c.2545-5C>G
|
|
|
NM_014989.7(RIMS1):c.2545-7C>T
|
|
|
NM_014989.7(RIMS1):c.2545-9C>T
|
|
|
NM_014989.7(RIMS1):c.2553A>G (p.Ile851Met)
|
rs2073159102
|
|
NM_014989.7(RIMS1):c.256C>G (p.Gln86Glu)
|
rs1427244177
|
|
NM_014989.7(RIMS1):c.2584C>A (p.Pro862Thr)
|
rs762763754
|
|
NM_014989.7(RIMS1):c.2585C>T (p.Pro862Leu)
|
|
|
NM_014989.7(RIMS1):c.258A>G (p.Gln86=)
|
|
|
NM_014989.7(RIMS1):c.2592G>T (p.Trp864Cys)
|
rs2154136312
|
|
NM_014989.7(RIMS1):c.2617T>C (p.Ser873Pro)
|
rs1170905918
|
|
NM_014989.7(RIMS1):c.2627C>G (p.Pro876Arg)
|
rs2154136390
|
|
NM_014989.7(RIMS1):c.2633C>T (p.Pro878Leu)
|
rs2073191481
|
|
NM_014989.7(RIMS1):c.2657G>A (p.Arg886Lys)
|
rs2073197014
|
|
NM_014989.7(RIMS1):c.2661A>T (p.Arg887=)
|
|
|
NM_014989.7(RIMS1):c.2675A>G (p.Glu892Gly)
|
|
|
NM_014989.7(RIMS1):c.2689A>G (p.Lys897Glu)
|
|
|
NM_014989.7(RIMS1):c.2696A>G (p.Gln899Arg)
|
rs2073215261
|
|
NM_014989.7(RIMS1):c.2698+13C>T
|
|
|
NM_014989.7(RIMS1):c.2699-17G>T
|
rs2154139591
|
|
NM_014989.7(RIMS1):c.2699-19_2699-18del
|
|
|
NM_014989.7(RIMS1):c.269G>T (p.Ser90Ile)
|
|
|
NM_014989.7(RIMS1):c.26G>T (p.Gly9Val)
|
|
|
NM_014989.7(RIMS1):c.2708G>T (p.Arg903Leu)
|
|
|
NM_014989.7(RIMS1):c.2731G>A (p.Asp911Asn)
|
|
|
NM_014989.7(RIMS1):c.2734T>C (p.Tyr912His)
|
|
|
NM_014989.7(RIMS1):c.2739G>C (p.Glu913Asp)
|
|
|
NM_014989.7(RIMS1):c.2751T>C (p.Gly917=)
|
rs1379140741
|
|
NM_014989.7(RIMS1):c.2757C>T (p.Gly919=)
|
|
|
NM_014989.7(RIMS1):c.2763TCC[3] (p.Pro923dup)
|
rs2154139833
|
|
NM_014989.7(RIMS1):c.2764C>T (p.Pro922Ser)
|
|
|
NM_014989.7(RIMS1):c.2770+12A>G
|
rs2074052728
|
|
NM_014989.7(RIMS1):c.2770+2T>C
|
rs1590681805
|
|
NM_014989.7(RIMS1):c.2770+4C>G
|
|
|
NM_014989.7(RIMS1):c.2770+4C>T
|
|
|
NM_014989.7(RIMS1):c.2770+8G>T
|
rs985216768
|
|
NM_014989.7(RIMS1):c.2771-11_2771-5dup
|
rs760008174
|
|
NM_014989.7(RIMS1):c.2771-13G>A
|
|
|
NM_014989.7(RIMS1):c.2771-2A>G
|
|
|
NM_014989.7(RIMS1):c.2786G>A (p.Ser929Asn)
|
|
|
NM_014989.7(RIMS1):c.2787T>G (p.Ser929Arg)
|
rs2076629294
|
|
NM_014989.7(RIMS1):c.2792G>A (p.Arg931Lys)
|
rs776281976
|
|
NM_014989.7(RIMS1):c.2801A>G (p.Lys934Arg)
|
rs2076635179
|
|
NM_014989.7(RIMS1):c.2815A>T (p.Thr939Ser)
|
|
|
NM_014989.7(RIMS1):c.2822C>T (p.Pro941Leu)
|
rs2154153609
|
|
NM_014989.7(RIMS1):c.2855G>A (p.Arg952His)
|
|
|
NM_014989.7(RIMS1):c.2859A>G (p.Ser953=)
|
rs768201322
|
|
NM_014989.7(RIMS1):c.285G>A (p.Val95=)
|
rs2153804136
|
|
NM_014989.7(RIMS1):c.2868T>C (p.Pro956=)
|
rs2076660465
|
|
NM_014989.7(RIMS1):c.2870A>G (p.His957Arg)
|
rs780751006
|
|
NM_014989.7(RIMS1):c.2872C>A (p.Arg958Ser)
|
|
|
NM_014989.7(RIMS1):c.2875G>A (p.Gly959Ser)
|
|
|
NM_014989.7(RIMS1):c.2897G>A (p.Arg966His)
|
|
|
NM_014989.7(RIMS1):c.2903G>A (p.Arg968His)
|
|
|
NM_014989.7(RIMS1):c.2915T>C (p.Val972Ala)
|
|
|
NM_014989.7(RIMS1):c.2918C>T (p.Pro973Leu)
|
rs2154153916
|
|
NM_014989.7(RIMS1):c.2919A>G (p.Pro973=)
|
|
|
NM_014989.7(RIMS1):c.2927+10G>A
|
|
|
NM_014989.7(RIMS1):c.2927+15G>A
|
|
|
NM_014989.7(RIMS1):c.2928-13G>T
|
rs2154155501
|
|
NM_014989.7(RIMS1):c.2928-16T>C
|
|
|
NM_014989.7(RIMS1):c.2928-8C>A
|
rs2076936521
|
|
NM_014989.7(RIMS1):c.2933T>C (p.Leu978Ser)
|
|
|
NM_014989.7(RIMS1):c.2939A>C (p.Glu980Ala)
|
|
|
NM_014989.7(RIMS1):c.2964T>C (p.Arg988=)
|
rs2076946454
|
|
NM_014989.7(RIMS1):c.2977C>T (p.His993Tyr)
|
rs1481729611
|
|
NM_014989.7(RIMS1):c.2982T>C (p.His994=)
|
rs2154155656
|
|
NM_014989.7(RIMS1):c.2992C>T (p.Arg998Ter)
|
|
|
NM_014989.7(RIMS1):c.29C>G (p.Pro10Arg)
|
rs546636252
|
|
NM_014989.7(RIMS1):c.3016A>G (p.Arg1006Gly)
|
rs747580614
|
|
NM_014989.7(RIMS1):c.3048A>C (p.Gln1016His)
|
rs762076813
|
|
NM_014989.7(RIMS1):c.3053+13A>G
|
rs1159363969
|
|
NM_014989.7(RIMS1):c.3053+6T>A
|
rs2154155856
|
|
NM_014989.7(RIMS1):c.3053+9C>A
|
|
|
NM_014989.7(RIMS1):c.3054-9T>C
|
|
|
NM_014989.7(RIMS1):c.305C>G (p.Ala102Gly)
|
|
|
NM_014989.7(RIMS1):c.3064A>G (p.Met1022Val)
|
|
|
NM_014989.7(RIMS1):c.3069G>A (p.Leu1023=)
|
rs763216349
|
|
NM_014989.7(RIMS1):c.3069G>T (p.Leu1023=)
|
|
|
NM_014989.7(RIMS1):c.307C>T (p.Arg103Trp)
|
|
|
NM_014989.7(RIMS1):c.3089G>A (p.Arg1030Gln)
|
|
|
NM_014989.7(RIMS1):c.3089G>C (p.Arg1030Pro)
|
rs367992303
|
|
NM_014989.7(RIMS1):c.3102C>G (p.Cys1034Trp)
|
|
|
NM_014989.7(RIMS1):c.3104T>C (p.Leu1035Pro)
|
rs2077604325
|
|
NM_014989.7(RIMS1):c.3107A>G (p.His1036Arg)
|
rs2077606163
|
|
NM_014989.7(RIMS1):c.3114C>A (p.Thr1038=)
|
|
|
NM_014989.7(RIMS1):c.3116+12G>A
|
rs114108296
|
|
NM_014989.7(RIMS1):c.3116+17G>A
|
|
|
NM_014989.7(RIMS1):c.3116+8C>T
|
rs1277312139
|
|
NM_014989.7(RIMS1):c.3117-18T>C
|
|
|
NM_014989.7(RIMS1):c.3117-7G>T
|
|
|
NM_014989.7(RIMS1):c.311G>A (p.Arg104His)
|
|
|
NM_014989.7(RIMS1):c.3129G>C (p.Arg1043Ser)
|
|
|
NM_014989.7(RIMS1):c.3130C>T (p.His1044Tyr)
|
rs2079772495
|
|
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs)
|
rs587783021
|
|
NM_014989.7(RIMS1):c.3142T>G (p.Leu1048Val)
|
rs2154172898
|
|
NM_014989.7(RIMS1):c.3143T>G (p.Leu1048Ter)
|
rs2079788926
|
|
NM_014989.7(RIMS1):c.3145C>T (p.Pro1049Ser)
|
rs751902187
|
|
NM_014989.7(RIMS1):c.3148C>A (p.Pro1050Thr)
|
rs1467543209
|
|
NM_014989.7(RIMS1):c.3162A>G (p.Leu1054=)
|
rs993752467
|
|
NM_014989.7(RIMS1):c.3173G>A (p.Ser1058Asn)
|
rs2079811827
|
|
NM_014989.7(RIMS1):c.3176C>G (p.Ser1059Cys)
|
rs1007717234
|
|
NM_014989.7(RIMS1):c.3178C>T (p.His1060Tyr)
|
|
|
NM_014989.7(RIMS1):c.3194+10C>G
|
|
|
NM_014989.7(RIMS1):c.3194+17T>C
|
rs1472359099
|
|
NM_014989.7(RIMS1):c.3194+1G>A
|
rs1057519205
|
|
NM_014989.7(RIMS1):c.3194+8C>A
|
rs958123512
|
|
NM_014989.7(RIMS1):c.3196T>C (p.Ser1066Pro)
|
rs2080031740
|
|
NM_014989.7(RIMS1):c.319G>A (p.Gly107Ser)
|
|
|
NM_014989.7(RIMS1):c.3203T>C (p.Leu1068Pro)
|
rs753857836
|
|
NM_014989.7(RIMS1):c.3206C>T (p.Pro1069Leu)
|
|
|
NM_014989.7(RIMS1):c.3208G>A (p.Ala1070Thr)
|
|
|
NM_014989.7(RIMS1):c.320G>T (p.Gly107Val)
|
|
|
NM_014989.7(RIMS1):c.321C>T (p.Gly107=)
|
|
|
NM_014989.7(RIMS1):c.3240G>T (p.Gln1080His)
|
|
|
NM_014989.7(RIMS1):c.3243C>T (p.Asp1081=)
|
|
|
NM_014989.7(RIMS1):c.3257A>C (p.His1086Pro)
|
rs2080077422
|
|
NM_014989.7(RIMS1):c.3257A>G (p.His1086Arg)
|
|
|
NM_014989.7(RIMS1):c.3267T>G (p.Phe1089Leu)
|
rs2154174019
|
|
NM_014989.7(RIMS1):c.3268A>G (p.Asn1090Asp)
|
|
|
NM_014989.7(RIMS1):c.3293A>G (p.Asp1098Gly)
|
|
|
NM_014989.7(RIMS1):c.3294T>C (p.Asp1098=)
|
rs2080106947
|
|
NM_014989.7(RIMS1):c.3295G>A (p.Glu1099Lys)
|
|
|
NM_014989.7(RIMS1):c.32G>A (p.Arg11His)
|
rs1335808918
|
|
NM_014989.7(RIMS1):c.32_33delinsAA (p.Arg11Gln)
|
|
|
NM_014989.7(RIMS1):c.3308+14G>C
|
rs2154174212
|
|
NM_014989.7(RIMS1):c.3308+5G>C
|
|
|
NM_014989.7(RIMS1):c.3308+6A>C
|
|
|
NM_014989.7(RIMS1):c.3308+7A>C
|
|
|
NM_014989.7(RIMS1):c.3308+84_3308+86del
|
rs200346289
|
|
NM_014989.7(RIMS1):c.3308G>A (p.Ser1103Asn)
|
|
|
NM_014989.7(RIMS1):c.3309-10C>T
|
|
|
NM_014989.7(RIMS1):c.3322T>C (p.Phe1108Leu)
|
|
|
NM_014989.7(RIMS1):c.3330C>T (p.Asp1110=)
|
rs2080346008
|
|
NM_014989.7(RIMS1):c.3338G>A (p.Arg1113Lys)
|
|
|
NM_014989.7(RIMS1):c.3338G>C (p.Arg1113Thr)
|
rs2154175134
|
|
NM_014989.7(RIMS1):c.333C>G (p.Asp111Glu)
|
|
|
NM_014989.7(RIMS1):c.3364C>T (p.Pro1122Ser)
|
|
|
NM_014989.7(RIMS1):c.337G>A (p.Ala113Thr)
|
rs2031973314
|
|
NM_014989.7(RIMS1):c.3399-2_3399-1del
|
|
|
NM_014989.7(RIMS1):c.3399-2del
|
|
|
NM_014989.7(RIMS1):c.339_341dup (p.Pro114_Thr115insPro)
|
|
|
NM_014989.7(RIMS1):c.3401G>A (p.Gly1134Asp)
|
rs766454945
|
|
NM_014989.7(RIMS1):c.3410C>T (p.Ser1137Phe)
|
rs2085055169
|
|
NM_014989.7(RIMS1):c.3414C>A (p.Pro1138=)
|
|
|
NM_014989.7(RIMS1):c.3416C>G (p.Ser1139Cys)
|
|
|
NM_014989.7(RIMS1):c.3434C>G (p.Pro1145Arg)
|
|
|
NM_014989.7(RIMS1):c.3463_3464delinsAG (p.Ala1155Arg)
|
|
|
NM_014989.7(RIMS1):c.3464C>A (p.Ala1155Glu)
|
rs754554575
|
|
NM_014989.7(RIMS1):c.3465G>C (p.Ala1155=)
|
rs190562383
|
|
NM_014989.7(RIMS1):c.3472G>T (p.Glu1158Ter)
|
|
|
NM_014989.7(RIMS1):c.3478G>T (p.Asp1160Tyr)
|
|
|
NM_014989.7(RIMS1):c.3482+15_3482+16delinsGC
|
rs2154193940
|
|
NM_014989.7(RIMS1):c.3482+18C>T
|
rs2085133807
|
|
NM_014989.7(RIMS1):c.3482+20C>T
|
|
|
NM_014989.7(RIMS1):c.3483-16A>G
|
|
|
NM_014989.7(RIMS1):c.3483-5C>T
|
rs1440228737
|
|
NM_014989.7(RIMS1):c.3483-7T>C
|
rs760127185
|
|
NM_014989.7(RIMS1):c.3497C>A (p.Ser1166Tyr)
|
rs988782938
|
|
NM_014989.7(RIMS1):c.3511A>C (p.Ile1171Leu)
|
rs2154220503
|
|
NM_014989.7(RIMS1):c.3515A>G (p.Gln1172Arg)
|
rs772247587
|
|
NM_014989.7(RIMS1):c.3525T>C (p.Thr1175=)
|
rs2154220527
|
|
NM_014989.7(RIMS1):c.3531A>G (p.Lys1177=)
|
rs1273236349
|
|
NM_014989.7(RIMS1):c.3533G>C (p.Gly1178Ala)
|
|
|
NM_014989.7(RIMS1):c.3534C>T (p.Gly1178=)
|
|
|
NM_014989.7(RIMS1):c.3554+13T>C
|
rs2091432283
|
|
NM_014989.7(RIMS1):c.3554+1G>A
|
|
|
NM_014989.7(RIMS1):c.3554+2T>C
|
rs2091423571
|
|
NM_014989.7(RIMS1):c.3554+6_3554+10del
|
|
|
NM_014989.7(RIMS1):c.3554+7T>C
|
|
|
NM_014989.7(RIMS1):c.3580A>G (p.Arg1194Gly)
|
rs2154249614
|
|
NM_014989.7(RIMS1):c.3583G>A (p.Gly1195Arg)
|
rs2154249615
|
|
NM_014989.7(RIMS1):c.3607G>C (p.Asp1203His)
|
|
|
NM_014989.7(RIMS1):c.3617T>C (p.Val1206Ala)
|
|
|
NM_014989.7(RIMS1):c.3622A>G (p.Arg1208Gly)
|
|
|
NM_014989.7(RIMS1):c.3626G>A (p.Gly1209Glu)
|
|
|
NM_014989.7(RIMS1):c.3640C>T (p.Arg1214Cys)
|
rs753429456
|
|
NM_014989.7(RIMS1):c.3650C>T (p.Ser1217Leu)
|
|
|
NM_014989.7(RIMS1):c.3661T>G (p.Ser1221Ala)
|
|
|
NM_014989.7(RIMS1):c.3663T>C (p.Ser1221=)
|
rs2154249787
|
|
NM_014989.7(RIMS1):c.3667A>G (p.Ile1223Val)
|
|
|
NM_014989.7(RIMS1):c.366A>G (p.Thr122=)
|
|
|
NM_014989.7(RIMS1):c.3670A>G (p.Arg1224Gly)
|
|
|
NM_014989.7(RIMS1):c.3691C>T (p.His1231Tyr)
|
rs2093268075
|
|
NM_014989.7(RIMS1):c.3694C>A (p.Leu1232Ile)
|
rs2093269214
|
|
NM_014989.7(RIMS1):c.3697G>T (p.Val1233Phe)
|
rs771939866
|
|
NM_014989.7(RIMS1):c.3710C>T (p.Ser1237Leu)
|
rs776226425
|
|
NM_014989.7(RIMS1):c.3714G>A (p.Ala1238=)
|
|
|
NM_014989.7(RIMS1):c.3714G>T (p.Ala1238=)
|
rs373917034
|
|
NM_014989.7(RIMS1):c.3722C>A (p.Ser1241Tyr)
|
|
|
NM_014989.7(RIMS1):c.3736A>G (p.Arg1246Gly)
|
|
|
NM_014989.7(RIMS1):c.3737+14G>C
|
rs2154250046
|
|
NM_014989.7(RIMS1):c.3737+20C>T
|
|
|
NM_014989.7(RIMS1):c.3737+4G>A
|
rs1470043085
|
|
NM_014989.7(RIMS1):c.3737+6T>A
|
|
|
NM_014989.7(RIMS1):c.3741G>T (p.Met1247Ile)
|
rs1215196156
|
|
NM_014989.7(RIMS1):c.3746G>A (p.Arg1249Gln)
|
rs199933558
|
|
NM_014989.7(RIMS1):c.3752G>A (p.Arg1251Lys)
|
|
|
NM_014989.7(RIMS1):c.376G>T (p.Asp126Tyr)
|
rs762416777
|
|
NM_014989.7(RIMS1):c.3783A>T (p.Thr1261=)
|
rs1269656409
|
|
NM_014989.7(RIMS1):c.3785C>G (p.Ser1262Trp)
|
|
|
NM_014989.7(RIMS1):c.378T>A (p.Asp126Glu)
|
|
|
NM_014989.7(RIMS1):c.378T>C (p.Asp126=)
|
|
|
NM_014989.7(RIMS1):c.3796C>T (p.Arg1266Cys)
|
|
|
NM_014989.7(RIMS1):c.3797G>A (p.Arg1266His)
|
rs373941007
|
|
NM_014989.7(RIMS1):c.3804A>C (p.Gly1268=)
|
|
|
NM_014989.7(RIMS1):c.3826G>C (p.Val1276Leu)
|
rs770652754
|
|
NM_014989.7(RIMS1):c.3833G>A (p.Ser1278Asn)
|
|
|
NM_014989.7(RIMS1):c.3836G>A (p.Gly1279Asp)
|
|
|
NM_014989.7(RIMS1):c.3837C>A (p.Gly1279=)
|
rs2093465094
|
|
NM_014989.7(RIMS1):c.3842T>C (p.Ile1281Thr)
|
|
|
NM_014989.7(RIMS1):c.3845A>G (p.Glu1282Gly)
|
rs2154252461
|
|
NM_014989.7(RIMS1):c.384C>T (p.Cys128=)
|
|
|
NM_014989.7(RIMS1):c.3850+11A>G
|
|
|
NM_014989.7(RIMS1):c.3851-14A>T
|
|
|
NM_014989.7(RIMS1):c.3854G>T (p.Ser1285Ile)
|
|
|
NM_014989.7(RIMS1):c.3891G>C (p.Met1297Ile)
|
|
|
NM_014989.7(RIMS1):c.3895G>T (p.Val1299Leu)
|
rs2095258165
|
|
NM_014989.7(RIMS1):c.3909G>T (p.Lys1303Asn)
|
|
|
NM_014989.7(RIMS1):c.3911A>G (p.Gln1304Arg)
|
|
|
NM_014989.7(RIMS1):c.3919G>A (p.Gly1307Arg)
|
rs2095260209
|
|
NM_014989.7(RIMS1):c.391C>T (p.Leu131Phe)
|
|
|
NM_014989.7(RIMS1):c.3929C>G (p.Ser1310Cys)
|
|
|
NM_014989.7(RIMS1):c.3935A>G (p.Gln1312Arg)
|
|
|
NM_014989.7(RIMS1):c.3947G>A (p.Arg1316His)
|
|
|
NM_014989.7(RIMS1):c.3959C>A (p.Ser1320Tyr)
|
rs140943787
|
|
NM_014989.7(RIMS1):c.3959C>T (p.Ser1320Phe)
|
rs140943787
|
|
NM_014989.7(RIMS1):c.3960C>T (p.Ser1320=)
|
rs2154283459
|
|
NM_014989.7(RIMS1):c.3963+16T>C
|
|
|
NM_014989.7(RIMS1):c.3963+9A>G
|
|
|
NM_014989.7(RIMS1):c.3964-3T>C
|
|
|
NM_014989.7(RIMS1):c.3965A>G (p.Tyr1322Cys)
|
|
|
NM_014989.7(RIMS1):c.3973C>T (p.His1325Tyr)
|
|
|
NM_014989.7(RIMS1):c.3974A>G (p.His1325Arg)
|
|
|
NM_014989.7(RIMS1):c.3980A>G (p.Asp1327Gly)
|
rs1473853499
|
|
NM_014989.7(RIMS1):c.3983A>G (p.Gln1328Arg)
|
|
|
NM_014989.7(RIMS1):c.3985T>C (p.Tyr1329His)
|
|
|
NM_014989.7(RIMS1):c.4007C>G (p.Ser1336Cys)
|
rs1261478393
|
|
NM_014989.7(RIMS1):c.4008T>C (p.Ser1336=)
|
rs2154295951
|
|
NM_014989.7(RIMS1):c.4013A>G (p.Lys1338Arg)
|
rs1339410173
|
|
NM_014989.7(RIMS1):c.4017A>G (p.Ser1339=)
|
|
|
NM_014989.7(RIMS1):c.4027G>A (p.Asp1343Asn)
|
rs2154295976
|
|
NM_014989.7(RIMS1):c.4029T>C (p.Asp1343=)
|
|
|
NM_014989.7(RIMS1):c.4047C>G (p.Ala1349=)
|
rs766627529
|
|
NM_014989.7(RIMS1):c.4048A>C (p.Ile1350Leu)
|
|
|
NM_014989.7(RIMS1):c.4048A>G (p.Ile1350Val)
|
|
|
NM_014989.7(RIMS1):c.4054C>T (p.Arg1352Ter)
|
rs763959819
|
|
NM_014989.7(RIMS1):c.4055G>A (p.Arg1352Gln)
|
|
|
NM_014989.7(RIMS1):c.4067C>T (p.Ala1356Val)
|
rs2095619223
|
|
NM_014989.7(RIMS1):c.406C>A (p.Arg136Ser)
|
|
|
NM_014989.7(RIMS1):c.4088G>A (p.Ser1363Asn)
|
rs1203140123
|
|
NM_014989.7(RIMS1):c.4097C>T (p.Ser1366Leu)
|
rs2154296125
|
|
NM_014989.7(RIMS1):c.4101G>A (p.Glu1367=)
|
rs2154296140
|
|
NM_014989.7(RIMS1):c.4103A>G (p.Gln1368Arg)
|
|
|
NM_014989.7(RIMS1):c.4111C>G (p.Arg1371Gly)
|
rs995769455
|
|
NM_014989.7(RIMS1):c.4120G>A (p.Gly1374Ser)
|
|
|
NM_014989.7(RIMS1):c.4130+10C>A
|
|
|
NM_014989.7(RIMS1):c.4130+14A>G
|
|
|
NM_014989.7(RIMS1):c.4130+16T>A
|
rs573469854
|
|
NM_014989.7(RIMS1):c.4130+6T>C
|
|
|
NM_014989.7(RIMS1):c.4148T>C (p.Met1383Thr)
|
|
|
NM_014989.7(RIMS1):c.4160G>A (p.Arg1387Gln)
|
rs752455133
|
|
NM_014989.7(RIMS1):c.4160G>T (p.Arg1387Leu)
|
rs752455133
|
|
NM_014989.7(RIMS1):c.4175G>A (p.Gly1392Glu)
|
|
|
NM_014989.7(RIMS1):c.4182C>A (p.Ser1394=)
|
rs1186628970
|
|
NM_014989.7(RIMS1):c.4184T>C (p.Ile1395Thr)
|
rs2154342186
|
|
NM_014989.7(RIMS1):c.4188G>A (p.Met1396Ile)
|
rs2154342198
|
|
NM_014989.7(RIMS1):c.4196C>T (p.Thr1399Ile)
|
|
|
NM_014989.7(RIMS1):c.4199G>A (p.Ser1400Asn)
|
|
|
NM_014989.7(RIMS1):c.41C>T (p.Thr14Met)
|
|
|
NM_014989.7(RIMS1):c.4205G>C (p.Ser1402Thr)
|
rs1347202021
|
|
NM_014989.7(RIMS1):c.4222C>G (p.Leu1408Val)
|
rs1248871069
|
|
NM_014989.7(RIMS1):c.4237G>A (p.Gly1413Ser)
|
|
|
NM_014989.7(RIMS1):c.4250A>T (p.Asp1417Val)
|
|
|
NM_014989.7(RIMS1):c.4251C>T (p.Asp1417=)
|
|
|
NM_014989.7(RIMS1):c.4257T>G (p.Ala1419=)
|
|
|
NM_014989.7(RIMS1):c.4264A>G (p.Thr1422Ala)
|
|
|
NM_014989.7(RIMS1):c.4266A>G (p.Thr1422=)
|
|
|
NM_014989.7(RIMS1):c.4268T>G (p.Val1423Gly)
|
|
|
NM_014989.7(RIMS1):c.4288C>T (p.Arg1430Trp)
|
rs754285811
|
|
NM_014989.7(RIMS1):c.4308C>A (p.Ala1436=)
|
|
|
NM_014989.7(RIMS1):c.4310A>G (p.Lys1437Arg)
|
|
|
NM_014989.7(RIMS1):c.4339A>G (p.Arg1447Gly)
|
|
|
NM_014989.7(RIMS1):c.4341A>G (p.Arg1447=)
|
|
|
NM_014989.7(RIMS1):c.4359T>C (p.Ser1453=)
|
rs540808324
|
|
NM_014989.7(RIMS1):c.435C>A (p.Gly145=)
|
rs566900718
|
|
NM_014989.7(RIMS1):c.4367-14CT[2]
|
|
|
NM_014989.7(RIMS1):c.4367-7C>T
|
|
|
NM_014989.7(RIMS1):c.4389A>C (p.Lys1463Asn)
|
rs2154437892
|
|
NM_014989.7(RIMS1):c.4412A>G (p.Glu1471Gly)
|
rs2154437947
|
|
NM_014989.7(RIMS1):c.4430A>C (p.Glu1477Ala)
|
|
|
NM_014989.7(RIMS1):c.4444G>A (p.Val1482Ile)
|
rs2098688415
|
|
NM_014989.7(RIMS1):c.4452G>T (p.Gln1484His)
|
|
|
NM_014989.7(RIMS1):c.4454C>T (p.Pro1485Leu)
|
|
|
NM_014989.7(RIMS1):c.4481T>A (p.Ile1494Asn)
|
|
|
NM_014989.7(RIMS1):c.4506-14C>T
|
|
|
NM_014989.7(RIMS1):c.450G>A (p.Arg150=)
|
|
|
NM_014989.7(RIMS1):c.4518T>C (p.Pro1506=)
|
|
|
NM_014989.7(RIMS1):c.4524G>T (p.Val1508=)
|
rs768744035
|
|
NM_014989.7(RIMS1):c.4525C>A (p.Arg1509=)
|
rs2098719796
|
|
NM_014989.7(RIMS1):c.4529T>C (p.Leu1510Pro)
|
|
|
NM_014989.7(RIMS1):c.459+12A>G
|
rs552585116
|
|
NM_014989.7(RIMS1):c.459+14G>A
|
|
|
NM_014989.7(RIMS1):c.4598C>T (p.Thr1533Ile)
|
rs2154442838
|
|
NM_014989.7(RIMS1):c.45G>A (p.Val15=)
|
rs375752630
|
|
NM_014989.7(RIMS1):c.460-13T>C
|
|
|
NM_014989.7(RIMS1):c.460-6C>T
|
|
|
NM_014989.7(RIMS1):c.4606A>G (p.Thr1536Ala)
|
rs794727553
|
|
NM_014989.7(RIMS1):c.460G>C (p.Glu154Gln)
|
rs1429333427
|
|
NM_014989.7(RIMS1):c.4613C>A (p.Ala1538Glu)
|
rs2098720562
|
|
NM_014989.7(RIMS1):c.4618+11T>G
|
|
|
NM_014989.7(RIMS1):c.4618+19_4618+20del
|
rs113359739
|
|
NM_014989.7(RIMS1):c.4618+20del
|
rs113359739
|
|
NM_014989.7(RIMS1):c.4618+20dup
|
rs113359739
|
|
NM_014989.7(RIMS1):c.4618+9C>G
|
|
|
NM_014989.7(RIMS1):c.4668A>C (p.Glu1556Asp)
|
rs2098802156
|
|
NM_014989.7(RIMS1):c.4674T>C (p.Ile1558=)
|
rs1596374235
|
|
NM_014989.7(RIMS1):c.4681C>T (p.Arg1561Ter)
|
rs1168986146
|
|
NM_014989.7(RIMS1):c.469G>C (p.Val157Leu)
|
|
|
NM_014989.7(RIMS1):c.4700C>G (p.Pro1567Arg)
|
|
|
NM_014989.7(RIMS1):c.471+18C>A
|
rs2153808082
|
|
NM_014989.7(RIMS1):c.471+6A>C
|
|
|
NM_014989.7(RIMS1):c.471+97C>A
|
rs144273575
|
|
NM_014989.7(RIMS1):c.4712C>T (p.Ser1571Phe)
|
rs2098802494
|
|
NM_014989.7(RIMS1):c.472-16T>C
|
|
|
NM_014989.7(RIMS1):c.4720+10A>G
|
|
|
NM_014989.7(RIMS1):c.4720+8G>A
|
rs2154456863
|
|
NM_014989.7(RIMS1):c.4721-13T>C
|
|
|
NM_014989.7(RIMS1):c.4731C>T (p.Val1577=)
|
rs752572719
|
|
NM_014989.7(RIMS1):c.4746G>A (p.Leu1582=)
|
rs557685336
|
|
NM_014989.7(RIMS1):c.4773G>A (p.Lys1591=)
|
rs2154458313
|
|
NM_014989.7(RIMS1):c.4776G>C (p.Lys1592Asn)
|
|
|
NM_014989.7(RIMS1):c.4797C>G (p.Thr1599=)
|
|
|
NM_014989.7(RIMS1):c.481G>C (p.Val161Leu)
|
|
|
NM_014989.7(RIMS1):c.4821_4822delinsCT (p.Ser1607_Leu1608=)
|
rs2154458386
|
|
NM_014989.7(RIMS1):c.4835A>C (p.Glu1612Ala)
|
rs2098810988
|
|
NM_014989.7(RIMS1):c.4845G>T (p.Gln1615His)
|
|
|
NM_014989.7(RIMS1):c.4846G>T (p.Gly1616Cys)
|
rs2098811074
|
|
NM_014989.7(RIMS1):c.4860+10_4860+13del
|
rs545358156
|
|
NM_014989.7(RIMS1):c.4860+16T>C
|
rs2154458490
|
|
NM_014989.7(RIMS1):c.4860+3C>T
|
rs2154458466
|
|
NM_014989.7(RIMS1):c.4860+80_4860+81del
|
rs67994138
|
|
NM_014989.7(RIMS1):c.4861-10A>G
|
|
|
NM_014989.7(RIMS1):c.4898A>G (p.Lys1633Arg)
|
|
|
NM_014989.7(RIMS1):c.4938C>T (p.Leu1646=)
|
rs781655530
|
|
NM_014989.7(RIMS1):c.4947_4948delinsAC (p.Ser1650Arg)
|
rs2154461267
|
|
NM_014989.7(RIMS1):c.4951A>C (p.Met1651Leu)
|
|
|
NM_014989.7(RIMS1):c.4970A>G (p.Lys1657Arg)
|
rs2098829238
|
|
NM_014989.7(RIMS1):c.497G>T (p.Arg166Leu)
|
rs753531827
|
|
NM_014989.7(RIMS1):c.49C>T (p.Pro17Ser)
|
|
|
NM_014989.7(RIMS1):c.5011C>A (p.Pro1671Thr)
|
rs2154461386
|
|
NM_014989.7(RIMS1):c.5016C>T (p.Leu1672=)
|
|
|
NM_014989.7(RIMS1):c.5020C>A (p.Arg1674=)
|
rs773188454
|
|
NM_014989.7(RIMS1):c.5020C>T (p.Arg1674Trp)
|
|
|
NM_014989.7(RIMS1):c.5031C>T (p.Ser1677=)
|
|
|
NM_014989.7(RIMS1):c.5045A>G (p.Glu1682Gly)
|
|
|
NM_014989.7(RIMS1):c.5058G>A (p.Gly1686=)
|
|
|
NM_014989.7(RIMS1):c.507A>G (p.Gln169=)
|
|
|
NM_014989.7(RIMS1):c.528G>C (p.Gly176=)
|
|
|
NM_014989.7(RIMS1):c.52C>A (p.Pro18Thr)
|
rs980168624
|
|
NM_014989.7(RIMS1):c.531A>G (p.Ala177=)
|
rs530407518
|
|
NM_014989.7(RIMS1):c.537C>G (p.Phe179Leu)
|
|
|
NM_014989.7(RIMS1):c.54C>A (p.Pro18=)
|
rs771432103
|
|
NM_014989.7(RIMS1):c.567G>A (p.Gln189=)
|
rs1273656704
|
|
NM_014989.7(RIMS1):c.568G>C (p.Asp190His)
|
rs2153967269
|
|
NM_014989.7(RIMS1):c.569A>T (p.Asp190Val)
|
|
|
NM_014989.7(RIMS1):c.581_583dup (p.Ser194_Asp195insGly)
|
|
|
NM_014989.7(RIMS1):c.583G>A (p.Asp195Asn)
|
rs2048174140
|
|
NM_014989.7(RIMS1):c.603C>T (p.Gly201=)
|
|
|
NM_014989.7(RIMS1):c.606T>C (p.Ser202=)
|
|
|
NM_014989.7(RIMS1):c.616A>G (p.Arg206Gly)
|
rs2048176752
|
|
NM_014989.7(RIMS1):c.623A>G (p.Lys208Arg)
|
|
|
NM_014989.7(RIMS1):c.639A>G (p.Gln213=)
|
rs2153967301
|
|
NM_014989.7(RIMS1):c.642G>A (p.Glu214=)
|
rs371815320
|
|
NM_014989.7(RIMS1):c.642G>C (p.Glu214Asp)
|
rs371815320
|
|
NM_014989.7(RIMS1):c.646T>A (p.Ser216Thr)
|
rs1289889610
|
|
NM_014989.7(RIMS1):c.648G>T (p.Ser216=)
|
rs116303981
|
|
NM_014989.7(RIMS1):c.649C>T (p.Arg217Trp)
|
rs185303689
|
|
NM_014989.7(RIMS1):c.650G>A (p.Arg217Gln)
|
|
|
NM_014989.7(RIMS1):c.659C>T (p.Thr220Ile)
|
|
|
NM_014989.7(RIMS1):c.666A>T (p.Leu222=)
|
rs2249021
|
|
NM_014989.7(RIMS1):c.674C>T (p.Ala225Val)
|
rs2153967315
|
|
NM_014989.7(RIMS1):c.686C>G (p.Ser229Cys)
|
|
|
NM_014989.7(RIMS1):c.690G>C (p.Gln230His)
|
|
|
NM_014989.7(RIMS1):c.69C>G (p.Pro23=)
|
rs998453434
|
|
NM_014989.7(RIMS1):c.708C>A (p.Ser236Arg)
|
rs774958376
|
|
NM_014989.7(RIMS1):c.709G>T (p.Ala237Ser)
|
rs1344104997
|
|
NM_014989.7(RIMS1):c.70G>A (p.Asp24Asn)
|
rs1767956481
|
|
NM_014989.7(RIMS1):c.717A>T (p.Pro239=)
|
|
|
NM_014989.7(RIMS1):c.722G>A (p.Arg241Lys)
|
|
|
NM_014989.7(RIMS1):c.724A>G (p.Ser242Gly)
|
rs1313186837
|
|
NM_014989.7(RIMS1):c.72C>G (p.Asp24Glu)
|
rs760113036
|
|
NM_014989.7(RIMS1):c.752C>A (p.Ala251Asp)
|
rs1470925915
|
|
NM_014989.7(RIMS1):c.755T>C (p.Leu252Ser)
|
|
|
NM_014989.7(RIMS1):c.757G>C (p.Gly253Arg)
|
rs2048184109
|
|
NM_014989.7(RIMS1):c.797A>G (p.Glu266Gly)
|
|
|
NM_014989.7(RIMS1):c.801T>C (p.Pro267=)
|
rs2153967375
|
|
NM_014989.7(RIMS1):c.806G>A (p.Arg269Lys)
|
|
|
NM_014989.7(RIMS1):c.806G>C (p.Arg269Thr)
|
|
|
NM_014989.7(RIMS1):c.812+10C>G
|
rs757648777
|
|
NM_014989.7(RIMS1):c.813-13T>C
|
|
|
NM_014989.7(RIMS1):c.813-7A>G
|
rs2153970080
|
|
NM_014989.7(RIMS1):c.825A>T (p.Pro275=)
|
|
|
NM_014989.7(RIMS1):c.831T>C (p.Leu277=)
|
|
|
NM_014989.7(RIMS1):c.835G>C (p.Glu279Gln)
|
rs2048512084
|
|
NM_014989.7(RIMS1):c.846C>T (p.Gly282=)
|
|
|
NM_014989.7(RIMS1):c.851G>C (p.Gly284Ala)
|
|
|
NM_014989.7(RIMS1):c.865G>A (p.Glu289Lys)
|
rs2153970118
|
|
NM_014989.7(RIMS1):c.876C>G (p.Arg292=)
|
rs776775023
|
|
NM_014989.7(RIMS1):c.87C>T (p.Thr29=)
|
rs1305981369
|
|
NM_014989.7(RIMS1):c.881C>G (p.Pro294Arg)
|
|
|
NM_014989.7(RIMS1):c.888C>A (p.Thr296=)
|
|
|
NM_014989.7(RIMS1):c.88G>C (p.Glu30Gln)
|
|
|
NM_014989.7(RIMS1):c.891A>G (p.Ser297=)
|
|
|
NM_014989.7(RIMS1):c.898_899delinsTG (p.Pro300Cys)
|
rs2153970143
|
|
NM_014989.7(RIMS1):c.904G>A (p.Glu302Lys)
|
rs2153970144
|
|
NM_014989.7(RIMS1):c.905A>C (p.Glu302Ala)
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rs2048516807
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NM_014989.7(RIMS1):c.906G>A (p.Glu302=)
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rs1320811399
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NM_014989.7(RIMS1):c.908G>C (p.Gly303Ala)
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rs1227363529
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NM_014989.7(RIMS1):c.913G>C (p.Val305Leu)
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rs886061705
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NM_014989.7(RIMS1):c.915C>G (p.Val305=)
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rs1159719316
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NM_014989.7(RIMS1):c.925G>A (p.Glu309Lys)
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NM_014989.7(RIMS1):c.926A>G (p.Glu309Gly)
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NM_014989.7(RIMS1):c.928C>G (p.Arg310Gly)
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rs758719701
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NM_014989.7(RIMS1):c.928C>T (p.Arg310Cys)
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rs758719701
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NM_014989.7(RIMS1):c.941G>T (p.Arg314Leu)
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rs375918012
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NM_014989.7(RIMS1):c.943G>A (p.Glu315Lys)
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NM_014989.7(RIMS1):c.948C>A (p.Ser316Arg)
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NM_014989.7(RIMS1):c.948C>G (p.Ser316Arg)
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rs755535927
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NM_014989.7(RIMS1):c.949C>G (p.Arg317Gly)
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rs2153970191
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NM_014989.7(RIMS1):c.950G>A (p.Arg317Gln)
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NM_014989.7(RIMS1):c.952A>G (p.Arg318Gly)
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NM_014989.7(RIMS1):c.954G>C (p.Arg318Ser)
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rs2048521720
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NM_014989.7(RIMS1):c.959A>G (p.Glu320Gly)
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rs2048522093
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NM_014989.7(RIMS1):c.966G>T (p.Gly322=)
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NM_014989.7(RIMS1):c.979T>A (p.Tyr327Asn)
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NM_014989.7(RIMS1):c.979T>G (p.Tyr327Asp)
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NM_014989.7(RIMS1):c.993G>A (p.Pro331=)
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