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.*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.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.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.813-14T>G
|
rs180682682
|
0.00058
|
NM_014989.7(RIMS1):c.-140T>C
|
rs528494309
|
0.00049
|
NM_014989.7(RIMS1):c.3786G>A (p.Ser1262=)
|
rs369147538
|
0.00046
|
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.2523A>G (p.Glu841=)
|
rs186078277
|
0.00029
|
NM_014989.7(RIMS1):c.942G>A (p.Arg314=)
|
rs185069362
|
0.00025
|
NM_014989.7(RIMS1):c.*1458A>T
|
rs549225918
|
0.00023
|
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.3194+9C>A
|
rs564292772
|
0.00017
|
NM_014989.7(RIMS1):c.3399-4A>G
|
rs368216570
|
0.00017
|
NM_014989.7(RIMS1):c.*1310A>G
|
rs191038983
|
0.00015
|
NM_014989.7(RIMS1):c.2242-12C>T
|
rs190023733
|
0.00014
|
NM_014989.7(RIMS1):c.165-5C>G
|
rs532652925
|
0.00013
|
NM_014989.7(RIMS1):c.4860+15G>A
|
rs553488575
|
0.00007
|
NM_014989.7(RIMS1):c.1533G>A (p.Pro511=)
|
rs201473375
|
0.00006
|
NM_014989.7(RIMS1):c.4506-5G>A
|
rs201556693
|
0.00006
|
NM_014989.7(RIMS1):c.1311G>A (p.Arg437=)
|
rs769837216
|
0.00005
|
NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser)
|
rs200935038
|
0.00005
|
NM_014989.7(RIMS1):c.39C>G (p.Pro13=)
|
rs538562890
|
0.00003
|
NM_014989.7(RIMS1):c.4599C>T (p.Thr1533=)
|
rs200818374
|
0.00003
|
NM_014989.7(RIMS1):c.*783G>A
|
rs150486970
|
0.00001
|
NM_014989.7(RIMS1):c.458A>C (p.Asn153Thr)
|
rs552482751
|
0.00001
|
NM_014989.7(RIMS1):c.4842A>G (p.Pro1614=)
|
rs376289027
|
0.00001
|
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
|
|
|
NM_014989.7(RIMS1):c.*1453dup
|
rs537509888
|
|
NM_014989.7(RIMS1):c.*2049T>A
|
rs542135172
|
|
NM_014989.7(RIMS1):c.*2429G>A
|
rs570975514
|
|
NM_014989.7(RIMS1):c.1362T>C (p.His454=)
|
rs758749274
|
|
NM_014989.7(RIMS1):c.1679-12del
|
|
|
NM_014989.7(RIMS1):c.1679-12dup
|
|
|
NM_014989.7(RIMS1):c.1719C>T (p.His573=)
|
|
|
NM_014989.7(RIMS1):c.1958-10dup
|
rs761135970
|
|
NM_014989.7(RIMS1):c.2081+15del
|
|
|
NM_014989.7(RIMS1):c.2082-3del
|
|
|
NM_014989.7(RIMS1):c.2242-15C>T
|
|
|
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.246-6G>A
|
|
|
NM_014989.7(RIMS1):c.3308+84_3308+86del
|
rs200346289
|
|
NM_014989.7(RIMS1):c.3465G>C (p.Ala1155=)
|
rs190562383
|
|
NM_014989.7(RIMS1):c.435C>A (p.Gly145=)
|
rs566900718
|
|
NM_014989.7(RIMS1):c.459+12A>G
|
rs552585116
|
|
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.4860+80_4860+81del
|
rs67994138
|
|