NM_005458.8(GABBR2):c.51A>G (p.Pro17=)
|
rs893078508
|
0.00045
|
NM_005458.8(GABBR2):c.48G>A (p.Pro16=)
|
rs1023207573
|
0.00036
|
NM_005458.8(GABBR2):c.1662C>T (p.Thr554=)
|
rs144905072
|
0.00026
|
NM_005458.8(GABBR2):c.1767G>A (p.Lys589=)
|
rs150053493
|
0.00026
|
NM_005458.8(GABBR2):c.1771-9G>A
|
rs77949482
|
0.00021
|
NM_005458.8(GABBR2):c.330C>T (p.Asn110=)
|
rs139594158
|
0.00021
|
NM_005458.8(GABBR2):c.1044C>T (p.Gly348=)
|
rs151275459
|
0.00016
|
NM_005458.8(GABBR2):c.1662+20C>T
|
rs374526767
|
0.00016
|
NM_005458.8(GABBR2):c.1384G>A (p.Glu462Lys)
|
rs202080871
|
0.00014
|
NM_005458.8(GABBR2):c.1977C>T (p.Ile659=)
|
rs140073399
|
0.00014
|
NM_005458.8(GABBR2):c.2318C>T (p.Thr773Met)
|
rs138346207
|
0.00014
|
NM_005458.8(GABBR2):c.201G>A (p.Glu67=)
|
rs145012175
|
0.00013
|
NM_005458.8(GABBR2):c.2343C>T (p.Asn781=)
|
rs376785497
|
0.00013
|
NM_005458.8(GABBR2):c.68T>C (p.Leu23Pro)
|
rs933385444
|
0.00012
|
NM_005458.8(GABBR2):c.1071C>T (p.Tyr357=)
|
rs568256004
|
0.00011
|
NM_005458.8(GABBR2):c.2631T>C (p.Asp877=)
|
rs141289569
|
0.00011
|
NM_005458.8(GABBR2):c.1329C>T (p.Asn443=)
|
rs778274646
|
0.00010
|
NM_005458.8(GABBR2):c.1893+17G>A
|
rs79647519
|
0.00009
|
NM_005458.8(GABBR2):c.2265G>A (p.Thr755=)
|
rs375061314
|
0.00009
|
NM_005458.8(GABBR2):c.1212C>T (p.Asn404=)
|
rs140891913
|
0.00008
|
NM_005458.8(GABBR2):c.2295T>C (p.Asn765=)
|
rs201747907
|
0.00008
|
NM_005458.8(GABBR2):c.957C>T (p.Phe319=)
|
rs768785875
|
0.00008
|
NM_005458.8(GABBR2):c.90G>T (p.Pro30=)
|
rs1039627589
|
0.00007
|
NM_005458.8(GABBR2):c.1181C>T (p.Thr394Met)
|
rs76761930
|
0.00006
|
NM_005458.8(GABBR2):c.1668G>A (p.Arg556=)
|
rs763017992
|
0.00006
|
NM_005458.8(GABBR2):c.324C>T (p.Cys108=)
|
rs145095054
|
0.00006
|
NM_005458.8(GABBR2):c.459+18T>G
|
rs371370334
|
0.00006
|
NM_005458.8(GABBR2):c.1821C>T (p.Ile607=)
|
rs371719408
|
0.00005
|
NM_005458.8(GABBR2):c.1950C>T (p.Asn650=)
|
rs765315126
|
0.00005
|
NM_005458.8(GABBR2):c.2529C>T (p.Phe843=)
|
rs765315548
|
0.00005
|
NM_005458.8(GABBR2):c.2660+8C>A
|
rs764167824
|
0.00005
|
NM_005458.8(GABBR2):c.321+11G>C
|
rs533615750
|
0.00005
|
NM_005458.8(GABBR2):c.477C>A (p.Thr159=)
|
rs150681816
|
0.00005
|
NM_005458.8(GABBR2):c.1177C>G (p.His393Asp)
|
rs768482972
|
0.00004
|
NM_005458.8(GABBR2):c.2076C>T (p.Ile692=)
|
rs141903124
|
0.00004
|
NM_005458.8(GABBR2):c.2121C>T (p.Ala707=)
|
rs148077461
|
0.00004
|
NM_005458.8(GABBR2):c.2595G>A (p.Gln865=)
|
rs769395669
|
0.00004
|
NM_005458.8(GABBR2):c.2618G>A (p.Arg873Gln)
|
rs368856308
|
0.00004
|
NM_005458.8(GABBR2):c.2679C>T (p.Ser893=)
|
rs765127236
|
0.00004
|
NM_005458.8(GABBR2):c.2786A>G (p.His929Arg)
|
rs374827661
|
0.00004
|
NM_005458.8(GABBR2):c.321+16C>A
|
rs539837952
|
0.00004
|
NM_005458.8(GABBR2):c.56C>T (p.Pro19Leu)
|
rs1054346747
|
0.00004
|
NM_005458.8(GABBR2):c.606G>A (p.Thr202=)
|
rs200832069
|
0.00004
|
NM_005458.8(GABBR2):c.60C>T (p.Pro20=)
|
rs1000877593
|
0.00004
|
NM_005458.8(GABBR2):c.612C>T (p.Asp204=)
|
rs142025089
|
0.00004
|
NM_005458.8(GABBR2):c.910C>T (p.Arg304Trp)
|
rs56020006
|
0.00004
|
NM_005458.8(GABBR2):c.1227C>T (p.Phe409=)
|
rs148029910
|
0.00003
|
NM_005458.8(GABBR2):c.1545G>C (p.Ser515=)
|
rs374493679
|
0.00003
|
NM_005458.8(GABBR2):c.1836G>A (p.Leu612=)
|
rs751465284
|
0.00003
|
NM_005458.8(GABBR2):c.189G>T (p.Pro63=)
|
rs770193688
|
0.00003
|
NM_005458.8(GABBR2):c.2703C>T (p.His901=)
|
rs776455748
|
0.00003
|
NM_005458.8(GABBR2):c.2776C>T (p.Arg926Cys)
|
rs528154834
|
0.00003
|
NM_005458.8(GABBR2):c.441A>C (p.Gln147His)
|
rs759633668
|
0.00003
|
NM_005458.8(GABBR2):c.480G>A (p.Thr160=)
|
rs756392600
|
0.00003
|
NM_005458.8(GABBR2):c.804C>T (p.Tyr268=)
|
rs749450235
|
0.00003
|
NM_005458.8(GABBR2):c.1005A>G (p.Pro335=)
|
rs112301334
|
0.00002
|
NM_005458.8(GABBR2):c.1297+14T>C
|
rs751707576
|
0.00002
|
NM_005458.8(GABBR2):c.1308G>A (p.Glu436=)
|
rs749742145
|
0.00002
|
NM_005458.8(GABBR2):c.1423C>T (p.Arg475Trp)
|
rs375938732
|
0.00002
|
NM_005458.8(GABBR2):c.1529+19C>T
|
rs757422808
|
0.00002
|
NM_005458.8(GABBR2):c.1530-7T>G
|
rs772567106
|
0.00002
|
NM_005458.8(GABBR2):c.1530-8C>T
|
rs1391961866
|
0.00002
|
NM_005458.8(GABBR2):c.1771-8C>T
|
rs201679845
|
0.00002
|
NM_005458.8(GABBR2):c.2094C>T (p.Asn698=)
|
rs763391651
|
0.00002
|
NM_005458.8(GABBR2):c.2169C>T (p.Ile723=)
|
rs749200227
|
0.00002
|
NM_005458.8(GABBR2):c.2230-15C>T
|
rs779722077
|
0.00002
|
NM_005458.8(GABBR2):c.2319G>A (p.Thr773=)
|
rs747984740
|
0.00002
|
NM_005458.8(GABBR2):c.2466G>A (p.Lys822=)
|
rs756618371
|
0.00002
|
NM_005458.8(GABBR2):c.2728G>A (p.Val910Met)
|
rs771303727
|
0.00002
|
NM_005458.8(GABBR2):c.2766C>T (p.Thr922=)
|
rs548342323
|
0.00002
|
NM_005458.8(GABBR2):c.30C>T (p.Pro10=)
|
rs1554727793
|
0.00002
|
NM_005458.8(GABBR2):c.369C>T (p.Tyr123=)
|
rs754632417
|
0.00002
|
NM_005458.8(GABBR2):c.534A>C (p.Ser178=)
|
rs79679873
|
0.00002
|
NM_005458.8(GABBR2):c.781G>A (p.Ala261Thr)
|
rs555622986
|
0.00002
|
NM_005458.8(GABBR2):c.831T>C (p.Tyr277=)
|
rs564869712
|
0.00002
|
NM_005458.8(GABBR2):c.885G>A (p.Thr295=)
|
rs200940989
|
0.00002
|
NM_005458.8(GABBR2):c.103C>T (p.Leu35=)
|
rs1830935072
|
0.00001
|
NM_005458.8(GABBR2):c.1095C>T (p.Ile365=)
|
rs964673442
|
0.00001
|
NM_005458.8(GABBR2):c.1096G>A (p.Ala366Thr)
|
rs1342775753
|
0.00001
|
NM_005458.8(GABBR2):c.1117A>G (p.Met373Val)
|
rs1017426048
|
0.00001
|
NM_005458.8(GABBR2):c.1150C>A (p.Arg384=)
|
rs773210565
|
0.00001
|
NM_005458.8(GABBR2):c.1182G>A (p.Thr394=)
|
rs779647290
|
0.00001
|
NM_005458.8(GABBR2):c.1194C>T (p.Ile398=)
|
rs757999651
|
0.00001
|
NM_005458.8(GABBR2):c.1358A>G (p.Asn453Ser)
|
rs376438203
|
0.00001
|
NM_005458.8(GABBR2):c.141C>G (p.Pro47=)
|
rs1170259663
|
0.00001
|
NM_005458.8(GABBR2):c.1529+7C>T
|
rs371668688
|
0.00001
|
NM_005458.8(GABBR2):c.1563C>T (p.Asn521=)
|
rs1326276691
|
0.00001
|
NM_005458.8(GABBR2):c.1653A>G (p.Thr551=)
|
rs778577033
|
0.00001
|
NM_005458.8(GABBR2):c.1680C>T (p.Leu560=)
|
rs374404921
|
0.00001
|
NM_005458.8(GABBR2):c.1695G>A (p.Thr565=)
|
rs761993188
|
0.00001
|
NM_005458.8(GABBR2):c.1698C>T (p.Thr566=)
|
rs775385636
|
0.00001
|
NM_005458.8(GABBR2):c.1737C>T (p.His579=)
|
rs560132993
|
0.00001
|
NM_005458.8(GABBR2):c.1746C>T (p.Phe582=)
|
rs745662893
|
0.00001
|
NM_005458.8(GABBR2):c.1770+7A>G
|
rs1263069525
|
0.00001
|
NM_005458.8(GABBR2):c.1771-4G>A
|
rs1208296420
|
0.00001
|
NM_005458.8(GABBR2):c.1800C>T (p.Ile600=)
|
rs1242527608
|
0.00001
|
NM_005458.8(GABBR2):c.1827G>A (p.Leu609=)
|
rs764113280
|
0.00001
|
NM_005458.8(GABBR2):c.1851T>C (p.Ala617=)
|
rs1367884140
|
0.00001
|
NM_005458.8(GABBR2):c.1865G>A (p.Arg622Gln)
|
rs139429887
|
0.00001
|
NM_005458.8(GABBR2):c.1893+9T>C
|
rs1339841740
|
0.00001
|
NM_005458.8(GABBR2):c.1911G>A (p.Arg637=)
|
rs146358304
|
0.00001
|
NM_005458.8(GABBR2):c.1924C>T (p.Arg642Cys)
|
rs756391068
|
0.00001
|
NM_005458.8(GABBR2):c.1992G>A (p.Lys664=)
|
rs1221811623
|
0.00001
|
NM_005458.8(GABBR2):c.2058C>T (p.Leu686=)
|
rs1162481197
|
0.00001
|
NM_005458.8(GABBR2):c.2061C>T (p.Asn687=)
|
rs1286722453
|
0.00001
|
NM_005458.8(GABBR2):c.2079G>A (p.Gly693=)
|
rs1464116569
|
0.00001
|
NM_005458.8(GABBR2):c.2095G>A (p.Val699Met)
|
rs1830549332
|
0.00001
|
NM_005458.8(GABBR2):c.2115C>T (p.Ile705=)
|
rs374267671
|
0.00001
|
NM_005458.8(GABBR2):c.2127C>T (p.Val709=)
|
rs776899839
|
0.00001
|
NM_005458.8(GABBR2):c.2154T>C (p.Asn718=)
|
rs780225675
|
0.00001
|
NM_005458.8(GABBR2):c.2220C>T (p.Phe740=)
|
rs754518079
|
0.00001
|
NM_005458.8(GABBR2):c.2229+15C>T
|
rs930278779
|
0.00001
|
NM_005458.8(GABBR2):c.2229+9G>A
|
rs539015155
|
0.00001
|
NM_005458.8(GABBR2):c.2264C>T (p.Thr755Met)
|
rs1304352816
|
0.00001
|
NM_005458.8(GABBR2):c.2412+13G>A
|
rs1006006412
|
0.00001
|
NM_005458.8(GABBR2):c.2412+3A>G
|
rs74429712
|
0.00001
|
NM_005458.8(GABBR2):c.2542+16C>T
|
rs376889851
|
0.00001
|
NM_005458.8(GABBR2):c.2543-19A>G
|
rs1230835801
|
0.00001
|
NM_005458.8(GABBR2):c.2574C>T (p.Leu858=)
|
rs762613895
|
0.00001
|
NM_005458.8(GABBR2):c.2643T>C (p.Asp881=)
|
rs968176642
|
0.00001
|
NM_005458.8(GABBR2):c.2661-18C>A
|
rs1260879279
|
0.00001
|
NM_005458.8(GABBR2):c.2670T>C (p.Arg890=)
|
rs138830482
|
0.00001
|
NM_005458.8(GABBR2):c.2721C>T (p.Ile907=)
|
rs772523931
|
0.00001
|
NM_005458.8(GABBR2):c.2754C>T (p.Cys918=)
|
rs756193791
|
0.00001
|
NM_005458.8(GABBR2):c.2823G>A (p.Leu941=)
|
rs1830287587
|
0.00001
|
NM_005458.8(GABBR2):c.354C>T (p.Tyr118=)
|
rs747923407
|
0.00001
|
NM_005458.8(GABBR2):c.384G>A (p.Leu128=)
|
rs762239276
|
0.00001
|
NM_005458.8(GABBR2):c.411C>T (p.Ser137=)
|
rs56067237
|
0.00001
|
NM_005458.8(GABBR2):c.420C>T (p.Ser140=)
|
rs1004160731
|
0.00001
|
NM_005458.8(GABBR2):c.43C>T (p.Pro15Ser)
|
rs1003032218
|
0.00001
|
NM_005458.8(GABBR2):c.459+11A>G
|
rs932380002
|
0.00001
|
NM_005458.8(GABBR2):c.501A>G (p.Lys167=)
|
rs1441542258
|
0.00001
|
NM_005458.8(GABBR2):c.53C>A (p.Pro18Gln)
|
rs1830936972
|
0.00001
|
NM_005458.8(GABBR2):c.600G>A (p.Thr200=)
|
rs553850957
|
0.00001
|
NM_005458.8(GABBR2):c.630+8C>T
|
rs750566465
|
0.00001
|
NM_005458.8(GABBR2):c.630+9G>A
|
rs539049663
|
0.00001
|
NM_005458.8(GABBR2):c.733-4A>G
|
rs779284295
|
0.00001
|
NM_005458.8(GABBR2):c.798+19T>C
|
rs775875553
|
0.00001
|
NM_005458.8(GABBR2):c.855C>T (p.Tyr285=)
|
rs758329114
|
0.00001
|
NM_005458.8(GABBR2):c.943A>G (p.Ile315Val)
|
rs769962887
|
0.00001
|
NM_005458.8(GABBR2):c.969C>T (p.Ser323=)
|
rs745748763
|
0.00001
|
NM_005458.8(GABBR2):c.993A>G (p.Ser331=)
|
rs770674486
|
0.00001
|
NC_000009.11:g.(?_101124992_101125835del
|
|
|
NM_005458.8(GABBR2):c.1000-12_1000-11del
|
|
|
NM_005458.8(GABBR2):c.1000-5T>C
|
|
|
NM_005458.8(GABBR2):c.1029C>T (p.Asn343=)
|
rs770947335
|
|
NM_005458.8(GABBR2):c.1042G>A (p.Gly348Ser)
|
rs2131603743
|
|
NM_005458.8(GABBR2):c.1128G>A (p.Leu376=)
|
|
|
NM_005458.8(GABBR2):c.1155C>T (p.Ile385=)
|
|
|
NM_005458.8(GABBR2):c.1167C>T (p.Asn389=)
|
rs2131603472
|
|
NM_005458.8(GABBR2):c.1197C>T (p.Ile399=)
|
|
|
NM_005458.8(GABBR2):c.1204G>A (p.Ala402Thr)
|
|
|
NM_005458.8(GABBR2):c.1206C>T (p.Ala402=)
|
rs2131603340
|
|
NM_005458.8(GABBR2):c.1236+10A>T
|
|
|
NM_005458.8(GABBR2):c.1236+13C>T
|
|
|
NM_005458.8(GABBR2):c.1236+14C>T
|
|
|
NM_005458.8(GABBR2):c.1237-17T>C
|
|
|
NM_005458.8(GABBR2):c.1237-18G>T
|
rs2131529859
|
|
NM_005458.8(GABBR2):c.1237-18GTTTT[4]
|
rs762098632
|
|
NM_005458.8(GABBR2):c.1237-22_1237-18del
|
rs912771584
|
|
NM_005458.8(GABBR2):c.1239T>C (p.Gly413=)
|
|
|
NM_005458.8(GABBR2):c.1254G>A (p.Arg418=)
|
|
|
NM_005458.8(GABBR2):c.1258G>A (p.Gly420Arg)
|
|
|
NM_005458.8(GABBR2):c.1287T>C (p.Thr429=)
|
rs2131529653
|
|
NM_005458.8(GABBR2):c.1298-4A>G
|
|
|
NM_005458.8(GABBR2):c.12G>C (p.Pro4=)
|
rs1830938419
|
|
NM_005458.8(GABBR2):c.12G>T (p.Pro4=)
|
|
|
NM_005458.8(GABBR2):c.1328A>G (p.Asn443Ser)
|
rs2131507509
|
|
NM_005458.8(GABBR2):c.132G>A (p.Arg44=)
|
|
|
NM_005458.8(GABBR2):c.1336G>A (p.Ala446Thr)
|
rs1832246999
|
|
NM_005458.8(GABBR2):c.1338C>T (p.Ala446=)
|
|
|
NM_005458.8(GABBR2):c.1362C>T (p.Asp454=)
|
rs2131507363
|
|
NM_005458.8(GABBR2):c.1378+10G>A
|
|
|
NM_005458.8(GABBR2):c.1378+17_1378+18delinsAA
|
rs2131507270
|
|
NM_005458.8(GABBR2):c.1379-14T>C
|
|
|
NM_005458.8(GABBR2):c.1379-16T>C
|
|
|
NM_005458.8(GABBR2):c.1379-20G>A
|
|
|
NM_005458.8(GABBR2):c.1379-8T>C
|
|
|
NM_005458.8(GABBR2):c.1389A>C (p.Pro463=)
|
|
|
NM_005458.8(GABBR2):c.1410C>A (p.Ile470=)
|
|
|
NM_005458.8(GABBR2):c.1449C>T (p.Ser483=)
|
rs1832129255
|
|
NM_005458.8(GABBR2):c.1455C>T (p.Leu485=)
|
|
|
NM_005458.8(GABBR2):c.1466C>T (p.Thr489Ile)
|
|
|
NM_005458.8(GABBR2):c.1500C>T (p.Leu500=)
|
rs1832128442
|
|
NM_005458.8(GABBR2):c.1503C>T (p.Phe501=)
|
|
|
NM_005458.8(GABBR2):c.1529+13G>C
|
|
|
NM_005458.8(GABBR2):c.1529+14G>A
|
|
|
NM_005458.8(GABBR2):c.1529+17C>T
|
|
|
NM_005458.8(GABBR2):c.1529+17del
|
|
|
NM_005458.8(GABBR2):c.1529+20_1529+22del
|
rs1832127254
|
|
NM_005458.8(GABBR2):c.1529+8A>G
|
rs1588135597
|
|
NM_005458.8(GABBR2):c.1530-12_1530-11del
|
|
|
NM_005458.8(GABBR2):c.1530-13T>C
|
|
|
NM_005458.8(GABBR2):c.1530-5G>T
|
|
|
NM_005458.8(GABBR2):c.1533C>G (p.Leu511=)
|
|
|
NM_005458.8(GABBR2):c.1545G>A (p.Ser515=)
|
rs374493679
|
|
NM_005458.8(GABBR2):c.1545G>T (p.Ser515=)
|
|
|
NM_005458.8(GABBR2):c.1572C>T (p.Ile524=)
|
|
|
NM_005458.8(GABBR2):c.1575T>C (p.Leu525=)
|
rs2131489566
|
|
NM_005458.8(GABBR2):c.1581G>A (p.Gly527=)
|
|
|
NM_005458.8(GABBR2):c.1608C>T (p.Leu536=)
|
rs2131489514
|
|
NM_005458.8(GABBR2):c.1611T>C (p.Phe537=)
|
|
|
NM_005458.8(GABBR2):c.1620T>C (p.Asp540=)
|
|
|
NM_005458.8(GABBR2):c.1644C>T (p.Thr548=)
|
rs750038687
|
|
NM_005458.8(GABBR2):c.1653A>T (p.Thr551=)
|
rs778577033
|
|
NM_005458.8(GABBR2):c.165G>T (p.Pro55=)
|
rs2131892997
|
|
NM_005458.8(GABBR2):c.1663-10T>C
|
|
|
NM_005458.8(GABBR2):c.1663-11A>G
|
|
|
NM_005458.8(GABBR2):c.1663-21_1663-20del
|
rs1398044515
|
|
NM_005458.8(GABBR2):c.1663-4C>G
|
|
|
NM_005458.8(GABBR2):c.1683C>T (p.Thr561=)
|
|
|
NM_005458.8(GABBR2):c.1686G>T (p.Val562=)
|
rs2131462613
|
|
NM_005458.8(GABBR2):c.1707G>A (p.Gly569=)
|
|
|
NM_005458.8(GABBR2):c.1717G>A (p.Ala573Thr)
|
rs2131462514
|
|
NM_005458.8(GABBR2):c.1746C>A (p.Phe582Leu)
|
rs745662893
|
|
NM_005458.8(GABBR2):c.1770+15_1770+17del
|
rs778385295
|
|
NM_005458.8(GABBR2):c.1770+17del
|
|
|
NM_005458.8(GABBR2):c.1771-15C>T
|
|
|
NM_005458.8(GABBR2):c.1771-19G>T
|
|
|
NM_005458.8(GABBR2):c.1771-716_1893+5del
|
rs1564031661
|
|
NM_005458.8(GABBR2):c.1771-7T>A
|
|
|
NM_005458.8(GABBR2):c.1771-9G>T
|
|
|
NM_005458.8(GABBR2):c.1772T>A (p.Ile591Asn)
|
rs2131445506
|
|
NM_005458.8(GABBR2):c.1784A>G (p.Gln595Arg)
|
rs1831610035
|
|
NM_005458.8(GABBR2):c.1803G>A (p.Val601=)
|
rs780693472
|
|
NM_005458.8(GABBR2):c.1803G>C (p.Val601=)
|
rs780693472
|
|
NM_005458.8(GABBR2):c.1803G>T (p.Val601=)
|
rs780693472
|
|
NM_005458.8(GABBR2):c.1806G>C (p.Gly602=)
|
rs1831609555
|
|
NM_005458.8(GABBR2):c.1825C>G (p.Leu609Val)
|
rs2131445381
|
|
NM_005458.8(GABBR2):c.1861C>T (p.Leu621=)
|
|
|
NM_005458.8(GABBR2):c.1863G>T (p.Leu621=)
|
|
|
NM_005458.8(GABBR2):c.1864C>A (p.Arg622=)
|
rs1019993431
|
|
NM_005458.8(GABBR2):c.1893+11_1893+34del
|
rs2131445129
|
|
NM_005458.8(GABBR2):c.1893+12A>G
|
rs2131445203
|
|
NM_005458.8(GABBR2):c.1893+14G>C
|
rs2131445193
|
|
NM_005458.8(GABBR2):c.1893+16C>A
|
|
|
NM_005458.8(GABBR2):c.1893+16C>T
|
|
|
NM_005458.8(GABBR2):c.1893+7_1893+35delinsAACAATCAGAAGCTATATAAAGTTGTATACATGTCTTCCCTCCTCAGTAAACTGGGGAGGCCTAGACAGAAAGAAAGCCCATTTTATTTGTGTTCCCTCAGCACCTACCGGGGCCTGGTATGCAGTAGCTACTTAAAAGTCTGATGAATTGAATTGACATGAAAGAATATAAAAAGAAGAAATATAACTCCCATTCCTCTTTGCAGCCTGGGATATTTTTATTACTCTGTGAGACTCCTACCCCACTTTACGTCTGTTTGATAGGGATCGGCTGGGGGATAAATATTTTCGGTGCCAAAGCTGACCTGTATTTCATTCACTTCATGTTTATATATCCCCTCACTCTCCAGAAAAGCTAATGTGATGGAGTAGTTCTGGAAGAGACTCATGGAAAAACAAACAAAACTCAGGCAGAAGCTTAAGAAATATCACCAGGTTTGGTTTTTAACGATTAAAGCCATTTTTAAAG
|
rs2131445123
|
|
NM_005458.8(GABBR2):c.1893+8_1893+31del
|
rs2131445138
|
|
NM_005458.8(GABBR2):c.1894-10_1894-9del
|
rs780232385
|
|
NM_005458.8(GABBR2):c.1902A>G (p.Pro634=)
|
rs2131362162
|
|
NM_005458.8(GABBR2):c.1920C>T (p.Ser640=)
|
|
|
NM_005458.8(GABBR2):c.1927C>T (p.Pro643Ser)
|
|
|
NM_005458.8(GABBR2):c.1943G>A (p.Cys648Tyr)
|
|
|
NM_005458.8(GABBR2):c.1978G>A (p.Val660Ile)
|
|
|
NM_005458.8(GABBR2):c.1980C>T (p.Val660=)
|
|
|
NM_005458.8(GABBR2):c.198G>A (p.Lys66=)
|
|
|
NM_005458.8(GABBR2):c.2033C>G (p.Thr678Ser)
|
|
|
NM_005458.8(GABBR2):c.2034C>G (p.Thr678=)
|
rs767121791
|
|
NM_005458.8(GABBR2):c.2040C>T (p.Asn680=)
|
rs2131355196
|
|
NM_005458.8(GABBR2):c.2053G>A (p.Ala685Thr)
|
rs2131355168
|
|
NM_005458.8(GABBR2):c.2054C>T (p.Ala685Val)
|
|
|
NM_005458.8(GABBR2):c.2055A>C (p.Ala685=)
|
rs1411488846
|
|
NM_005458.8(GABBR2):c.2075T>C (p.Ile692Thr)
|
|
|
NM_005458.8(GABBR2):c.2093A>G (p.Asn698Ser)
|
rs2131355065
|
|
NM_005458.8(GABBR2):c.2115C>A (p.Ile705=)
|
|
|
NM_005458.8(GABBR2):c.2141G>A (p.Arg714Gln)
|
rs1830548460
|
|
NM_005458.8(GABBR2):c.2145C>T (p.Asp715=)
|
|
|
NM_005458.8(GABBR2):c.2172G>A (p.Val724=)
|
|
|
NM_005458.8(GABBR2):c.2190C>T (p.Phe730=)
|
rs2131354850
|
|
NM_005458.8(GABBR2):c.21C>A (p.Ser7=)
|
rs984433851
|
|
NM_005458.8(GABBR2):c.21C>G (p.Ser7=)
|
|
|
NM_005458.8(GABBR2):c.21C>T (p.Ser7=)
|
|
|
NM_005458.8(GABBR2):c.2226G>T (p.Pro742=)
|
rs79435794
|
|
NM_005458.8(GABBR2):c.2229+18A>G
|
rs2131354749
|
|
NM_005458.8(GABBR2):c.2229+8C>G
|
|
|
NM_005458.8(GABBR2):c.2230-8C>A
|
|
|
NM_005458.8(GABBR2):c.2232C>G (p.Leu744=)
|
rs2131350280
|
|
NM_005458.8(GABBR2):c.2239C>T (p.Leu747=)
|
rs2131350264
|
|
NM_005458.8(GABBR2):c.2283G>A (p.Gln761=)
|
|
|
NM_005458.8(GABBR2):c.2296C>G (p.Gln766Glu)
|
rs1830500078
|
|
NM_005458.8(GABBR2):c.231G>A (p.Val77=)
|
|
|
NM_005458.8(GABBR2):c.2322C>A (p.Ser774=)
|
|
|
NM_005458.8(GABBR2):c.2325C>T (p.Thr775=)
|
rs2131350098
|
|
NM_005458.8(GABBR2):c.2328G>T (p.Ser776=)
|
|
|
NM_005458.8(GABBR2):c.234C>A (p.Leu78=)
|
|
|
NM_005458.8(GABBR2):c.237C>T (p.Pro79=)
|
rs757037079
|
|
NM_005458.8(GABBR2):c.2385C>T (p.Asn795=)
|
rs778238324
|
|
NM_005458.8(GABBR2):c.23G>A (p.Gly8Glu)
|
rs950352036
|
|
NM_005458.8(GABBR2):c.23G>C (p.Gly8Ala)
|
rs950352036
|
|
NM_005458.8(GABBR2):c.2403G>A (p.Lys801=)
|
|
|
NM_005458.8(GABBR2):c.2412+12T>C
|
|
|
NM_005458.8(GABBR2):c.2412+7dup
|
rs752425703
|
|
NM_005458.8(GABBR2):c.2413-10del
|
|
|
NM_005458.8(GABBR2):c.2413-14C>A
|
|
|
NM_005458.8(GABBR2):c.2413-6T>C
|
|
|
NM_005458.8(GABBR2):c.2413-8T>C
|
|
|
NM_005458.8(GABBR2):c.2450A>C (p.Gln817Pro)
|
|
|
NM_005458.8(GABBR2):c.2472C>A (p.Thr824=)
|
rs767941134
|
|
NM_005458.8(GABBR2):c.2476A>C (p.Ile826Leu)
|
rs1014873104
|
|
NM_005458.8(GABBR2):c.2493C>T (p.Tyr831=)
|
rs2131344070
|
|
NM_005458.8(GABBR2):c.24G>A (p.Gly8=)
|
|
|
NM_005458.8(GABBR2):c.2514C>T (p.Leu838=)
|
|
|
NM_005458.8(GABBR2):c.2527_2532delinsACAGGTAAGAGCACAGGTAA (p.Phe843fs)
|
|
|
NM_005458.8(GABBR2):c.2542+13G>A
|
|
|
NM_005458.8(GABBR2):c.2542+18C>T
|
|
|
NM_005458.8(GABBR2):c.2542+7G>A
|
rs371247282
|
|
NM_005458.8(GABBR2):c.2542+9G>T
|
|
|
NM_005458.8(GABBR2):c.2543-13_2543-11del
|
|
|
NM_005458.8(GABBR2):c.2543-14T>G
|
|
|
NM_005458.8(GABBR2):c.2543-17T>C
|
|
|
NM_005458.8(GABBR2):c.2543-6A>C
|
rs1449186952
|
|
NM_005458.8(GABBR2):c.2543-7C>T
|
|
|
NM_005458.8(GABBR2):c.2544T>C (p.Asp848=)
|
|
|
NM_005458.8(GABBR2):c.2553G>A (p.Lys851=)
|
|
|
NM_005458.8(GABBR2):c.2555C>T (p.Ala852Val)
|
rs1830341096
|
|
NM_005458.8(GABBR2):c.255C>T (p.Ile85=)
|
rs763713514
|
|
NM_005458.8(GABBR2):c.2568T>C (p.Asn856=)
|
|
|
NM_005458.8(GABBR2):c.2571C>A (p.His857Gln)
|
|
|
NM_005458.8(GABBR2):c.2575G>C (p.Asp859His)
|
rs79773606
|
|
NM_005458.8(GABBR2):c.2586C>T (p.Pro862=)
|
|
|
NM_005458.8(GABBR2):c.2613C>T (p.Pro871=)
|
|
|
NM_005458.8(GABBR2):c.263T>A (p.Ile88Asn)
|
|
|
NM_005458.8(GABBR2):c.2646A>T (p.Ile882=)
|
|
|
NM_005458.8(GABBR2):c.2660+20G>A
|
|
|
NM_005458.8(GABBR2):c.2661-12C>A
|
|
|
NM_005458.8(GABBR2):c.2664C>T (p.Ile888=)
|
rs371566642
|
|
NM_005458.8(GABBR2):c.2667G>A (p.Gln889=)
|
rs2131331775
|
|
NM_005458.8(GABBR2):c.2682C>G (p.Leu894=)
|
|
|
NM_005458.8(GABBR2):c.2706C>T (p.Ala902=)
|
rs2131331668
|
|
NM_005458.8(GABBR2):c.2733C>T (p.Asp911=)
|
|
|
NM_005458.8(GABBR2):c.2737A>G (p.Ser913Gly)
|
rs1830289381
|
|
NM_005458.8(GABBR2):c.2741G>A (p.Cys914Tyr)
|
|
|
NM_005458.8(GABBR2):c.2765C>T (p.Thr922Ile)
|
rs1830288897
|
|
NM_005458.8(GABBR2):c.2777G>C (p.Arg926Pro)
|
rs901968471
|
|
NM_005458.8(GABBR2):c.280C>A (p.Leu94Met)
|
rs1830931550
|
|
NM_005458.8(GABBR2):c.280C>T (p.Leu94=)
|
rs1830931550
|
|
NM_005458.8(GABBR2):c.2817G>A (p.Ser939=)
|
rs752078517
|
|
NM_005458.8(GABBR2):c.2817G>C (p.Ser939=)
|
rs752078517
|
|
NM_005458.8(GABBR2):c.282G>A (p.Leu94=)
|
|
|
NM_005458.8(GABBR2):c.297C>T (p.Leu99=)
|
|
|
NM_005458.8(GABBR2):c.304C>A (p.Arg102=)
|
rs763374888
|
|
NM_005458.8(GABBR2):c.306G>A (p.Arg102=)
|
|
|
NM_005458.8(GABBR2):c.306G>C (p.Arg102=)
|
|
|
NM_005458.8(GABBR2):c.321+10C>T
|
|
|
NM_005458.8(GABBR2):c.321+17C>T
|
|
|
NM_005458.8(GABBR2):c.321+20T>C
|
|
|
NM_005458.8(GABBR2):c.322-10T>C
|
rs2131780535
|
|
NM_005458.8(GABBR2):c.322-15T>C
|
rs2131780541
|
|
NM_005458.8(GABBR2):c.322-20_322-17del
|
|
|
NM_005458.8(GABBR2):c.322-9G>A
|
|
|
NM_005458.8(GABBR2):c.322-9G>T
|
|
|
NM_005458.8(GABBR2):c.339G>A (p.Gly113=)
|
|
|
NM_005458.8(GABBR2):c.339G>C (p.Gly113=)
|
rs766579887
|
|
NM_005458.8(GABBR2):c.33G>A (p.Gly11=)
|
|
|
NM_005458.8(GABBR2):c.33G>T (p.Gly11=)
|
|
|
NM_005458.8(GABBR2):c.33GCC[3] (p.Pro18_Pro20del)
|
rs751111546
|
|
NM_005458.8(GABBR2):c.33GCC[7] (p.Pro20dup)
|
rs751111546
|
|
NM_005458.8(GABBR2):c.33GCC[8] (p.Pro19_Pro20dup)
|
rs751111546
|
|
NM_005458.8(GABBR2):c.33GCC[9] (p.Pro18_Pro20dup)
|
rs751111546
|
|
NM_005458.8(GABBR2):c.34C>T (p.Pro12Ser)
|
rs1229507395
|
|
NM_005458.8(GABBR2):c.372G>A (p.Gly124=)
|
rs776543603
|
|
NM_005458.8(GABBR2):c.372G>C (p.Gly124=)
|
|
|
NM_005458.8(GABBR2):c.375T>A (p.Pro125=)
|
rs2808536
|
|
NM_005458.8(GABBR2):c.381C>T (p.His127=)
|
rs139973950
|
|
NM_005458.8(GABBR2):c.39G>A (p.Pro13=)
|
|
|
NM_005458.8(GABBR2):c.402C>A (p.Val134=)
|
|
|
NM_005458.8(GABBR2):c.422T>C (p.Ile141Thr)
|
rs1588236381
|
|
NM_005458.8(GABBR2):c.423C>T (p.Ile141=)
|
|
|
NM_005458.8(GABBR2):c.438C>T (p.Leu146=)
|
|
|
NM_005458.8(GABBR2):c.459+12G>A
|
|
|
NM_005458.8(GABBR2):c.459+20C>A
|
|
|
NM_005458.8(GABBR2):c.459+20_459+22del
|
|
|
NM_005458.8(GABBR2):c.460-10T>C
|
rs745358488
|
|
NM_005458.8(GABBR2):c.460-17del
|
rs1564109426
|
|
NM_005458.8(GABBR2):c.460-20G>A
|
|
|
NM_005458.8(GABBR2):c.460-6T>C
|
rs778633817
|
|
NM_005458.8(GABBR2):c.460-8T>C
|
rs2131740671
|
|
NM_005458.8(GABBR2):c.480G>C (p.Thr160=)
|
|
|
NM_005458.8(GABBR2):c.492C>T (p.Ala164=)
|
|
|
NM_005458.8(GABBR2):c.495T>C (p.Asp165=)
|
|
|
NM_005458.8(GABBR2):c.513T>C (p.Tyr171=)
|
|
|
NM_005458.8(GABBR2):c.51_56dup (p.Pro20_Ala21insProPro)
|
|
|
NM_005458.8(GABBR2):c.525C>T (p.Thr175=)
|
|
|
NM_005458.8(GABBR2):c.526G>A (p.Val176Ile)
|
rs1160950834
|
|
NM_005458.8(GABBR2):c.528C>G (p.Val176=)
|
|
|
NM_005458.8(GABBR2):c.534A>G (p.Ser178=)
|
rs79679873
|
|
NM_005458.8(GABBR2):c.543G>A (p.Ala181=)
|
|
|
NM_005458.8(GABBR2):c.561G>C (p.Leu187=)
|
|
|
NM_005458.8(GABBR2):c.573G>A (p.Lys191=)
|
|
|
NM_005458.8(GABBR2):c.58C>T (p.Pro20Ser)
|
rs1430262254
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NM_005458.8(GABBR2):c.591C>G (p.Arg197=)
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NM_005458.8(GABBR2):c.591C>T (p.Arg197=)
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rs774158039
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NM_005458.8(GABBR2):c.606G>C (p.Thr202=)
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rs200832069
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NM_005458.8(GABBR2):c.615T>G (p.Val205=)
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NM_005458.8(GABBR2):c.630+9G>C
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rs539049663
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NM_005458.8(GABBR2):c.64C>T (p.Arg22Cys)
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NM_005458.8(GABBR2):c.67C>T (p.Leu23=)
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rs1830936070
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NM_005458.8(GABBR2):c.6T>A (p.Ala2=)
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NM_005458.8(GABBR2):c.735G>A (p.Gly245=)
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NM_005458.8(GABBR2):c.744G>A (p.Val248=)
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NM_005458.8(GABBR2):c.745C>A (p.Arg249=)
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NM_005458.8(GABBR2):c.759C>A (p.Gly253=)
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rs1826910024
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NM_005458.8(GABBR2):c.764T>C (p.Phe255Ser)
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rs2131642695
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NM_005458.8(GABBR2):c.78A>C (p.Leu26=)
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NM_005458.8(GABBR2):c.78A>G (p.Leu26=)
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rs923485543
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NM_005458.8(GABBR2):c.798+16G>C
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NM_005458.8(GABBR2):c.798+19T>A
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NM_005458.8(GABBR2):c.799-14T>G
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NM_005458.8(GABBR2):c.799-17C>T
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NM_005458.8(GABBR2):c.799-20A>T
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NM_005458.8(GABBR2):c.840C>A (p.Ile280=)
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rs868643062
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NM_005458.8(GABBR2):c.87G>C (p.Leu29=)
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rs2131893138
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NM_005458.8(GABBR2):c.901C>T (p.Arg301Cys)
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NM_005458.8(GABBR2):c.912G>T (p.Arg304=)
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NM_005458.8(GABBR2):c.921G>A (p.Leu307=)
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rs2131630838
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NM_005458.8(GABBR2):c.948C>A (p.Gly316=)
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rs369085352
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NM_005458.8(GABBR2):c.98T>C (p.Leu33Pro)
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rs1762573750
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NM_005458.8(GABBR2):c.999+10T>C
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NM_005458.8(GABBR2):c.999+17C>A
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NM_005458.8(GABBR2):c.999+8C>A
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rs376018425
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NM_005458.8(GABBR2):c.999+8C>T
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NM_005458.8(GABBR2):c.999+9C>A
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rs1334305434
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NM_005458.8(GABBR2):c.9C>T (p.Ser3=)
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