NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)
|
rs12021720
|
0.87100
|
NM_001918.5(DBT):c.1210-9A>T
|
rs34229137
|
0.31080
|
NM_001918.5(DBT):c.1150= (p.Ser384=)
|
rs12021720
|
0.12900
|
NM_001918.5(DBT):c.1210-10T>A
|
rs183058253
|
0.04736
|
NM_001918.5(DBT):c.715A>G (p.Ile239Val)
|
rs72973763
|
0.03442
|
NM_001918.5(DBT):c.1281+6T>G
|
rs140115881
|
0.01022
|
NM_001918.5(DBT):c.724T>C (p.Ser242Pro)
|
rs146249007
|
0.00864
|
NM_001918.5(DBT):c.1282-13_1282-9del
|
rs761681999
|
0.00456
|
NM_001918.5(DBT):c.506G>A (p.Arg169Gln)
|
rs34267966
|
0.00341
|
NM_001918.5(DBT):c.76T>C (p.Cys26Arg)
|
rs145674833
|
0.00302
|
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser)
|
rs75525811
|
0.00196
|
NM_001918.5(DBT):c.753C>T (p.Asp251=)
|
rs79292123
|
0.00179
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
NM_001918.5(DBT):c.1210-11T>A
|
rs751951997
|
0.00049
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
NM_001918.5(DBT):c.37A>G (p.Asn13Asp)
|
rs140308307
|
0.00024
|
NM_001918.5(DBT):c.1210-8A>T
|
rs535837017
|
0.00023
|
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)
|
rs74103423
|
0.00022
|
NM_001918.5(DBT):c.964T>C (p.Phe322Leu)
|
rs148571335
|
0.00022
|
NM_001918.5(DBT):c.1210-9_1210-8insT
|
rs201755806
|
0.00020
|
NM_001918.5(DBT):c.747C>A (p.Gly249=)
|
rs200612682
|
0.00013
|
NM_001918.5(DBT):c.318T>G (p.Ala106=)
|
rs146259768
|
0.00011
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_001918.5(DBT):c.556-7T>C
|
rs755448648
|
0.00009
|
NM_001918.5(DBT):c.1127G>A (p.Arg376His)
|
rs150934375
|
0.00006
|
NM_001918.5(DBT):c.1281+5A>G
|
rs199571242
|
0.00006
|
NM_001918.5(DBT):c.733C>A (p.Pro245Thr)
|
rs200339376
|
0.00006
|
NM_001918.5(DBT):c.90T>C (p.His30=)
|
rs377306925
|
0.00006
|
NM_001918.5(DBT):c.9A>G (p.Ala3=)
|
rs772869478
|
0.00006
|
NM_001918.5(DBT):c.1111G>A (p.Ala371Thr)
|
rs777868718
|
0.00005
|
NM_001918.5(DBT):c.291C>T (p.Ser97=)
|
rs201318480
|
0.00005
|
NM_001918.5(DBT):c.572T>G (p.Val191Gly)
|
rs146894954
|
0.00005
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
NM_001918.5(DBT):c.1051G>C (p.Glu351Gln)
|
rs142160613
|
0.00004
|
NM_001918.5(DBT):c.1143C>G (p.Gly381=)
|
rs1052326198
|
0.00004
|
NM_001918.5(DBT):c.1210-10_1210-9del
|
rs794726986
|
0.00004
|
NM_001918.5(DBT):c.27C>G (p.Thr9=)
|
rs371418997
|
0.00004
|
NM_001918.5(DBT):c.536G>A (p.Arg179His)
|
rs766629953
|
0.00004
|
NM_001918.5(DBT):c.562C>T (p.Leu188=)
|
rs370323452
|
0.00004
|
NM_001918.5(DBT):c.75_76del (p.Cys26fs)
|
rs768832921
|
0.00004
|
NM_001918.5(DBT):c.773-17A>C
|
rs144978854
|
0.00004
|
NM_001918.5(DBT):c.978C>T (p.Asn326=)
|
rs140659494
|
0.00004
|
NM_001918.5(DBT):c.1017+9T>C
|
rs773457541
|
0.00002
|
NM_001918.5(DBT):c.1210-11_1210-9del
|
rs1557944011
|
0.00002
|
NM_001918.5(DBT):c.1269T>C (p.Leu423=)
|
rs760929997
|
0.00002
|
NM_001918.5(DBT):c.15T>C (p.Arg5=)
|
rs773817425
|
0.00002
|
NM_001918.5(DBT):c.175+9G>A
|
rs779334816
|
0.00002
|
NM_001918.5(DBT):c.176-10del
|
rs745672858
|
0.00002
|
NM_001918.5(DBT):c.176-15C>A
|
rs762049483
|
0.00002
|
NM_001918.5(DBT):c.1A>G (p.Met1Val)
|
rs759312184
|
0.00002
|
NM_001918.5(DBT):c.34A>G (p.Arg12Gly)
|
rs1215222732
|
0.00002
|
NM_001918.5(DBT):c.401C>T (p.Pro134Leu)
|
rs1131691488
|
0.00002
|
NM_001918.5(DBT):c.434-5A>C
|
rs374530437
|
0.00002
|
NM_001918.5(DBT):c.62G>A (p.Arg21His)
|
rs533707792
|
0.00002
|
NM_001918.5(DBT):c.1017+8A>G
|
rs541924732
|
0.00001
|
NM_001918.5(DBT):c.1017G>A (p.Lys339=)
|
rs1490661508
|
0.00001
|
NM_001918.5(DBT):c.1018-10T>A
|
rs1328647470
|
0.00001
|
NM_001918.5(DBT):c.1110C>T (p.Ile370=)
|
rs771962372
|
0.00001
|
NM_001918.5(DBT):c.1138T>C (p.Leu380=)
|
rs756606257
|
0.00001
|
NM_001918.5(DBT):c.1158C>T (p.Leu386=)
|
rs139943180
|
0.00001
|
NM_001918.5(DBT):c.1171C>T (p.Leu391Phe)
|
rs1339599491
|
0.00001
|
NM_001918.5(DBT):c.1173T>G (p.Leu391=)
|
rs763246178
|
0.00001
|
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)
|
rs1449113689
|
0.00001
|
NM_001918.5(DBT):c.1210-18_1210-9del
|
rs780660910
|
0.00001
|
NM_001918.5(DBT):c.1217G>T (p.Gly406Val)
|
rs767154711
|
0.00001
|
NM_001918.5(DBT):c.1261G>T (p.Gly421Trp)
|
rs796051945
|
0.00001
|
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)
|
rs398123660
|
0.00001
|
NM_001918.5(DBT):c.1320G>A (p.Lys440=)
|
rs1243840387
|
0.00001
|
NM_001918.5(DBT):c.1350T>G (p.Ala450=)
|
rs149959750
|
0.00001
|
NM_001918.5(DBT):c.1371T>C (p.Gly457=)
|
rs1188716932
|
0.00001
|
NM_001918.5(DBT):c.1384C>T (p.Arg462Cys)
|
rs765257706
|
0.00001
|
NM_001918.5(DBT):c.1385G>A (p.Arg462His)
|
rs750594890
|
0.00001
|
NM_001918.5(DBT):c.1392C>T (p.Ser464=)
|
rs765967170
|
0.00001
|
NM_001918.5(DBT):c.1430T>G (p.Met477Arg)
|
rs398123662
|
0.00001
|
NM_001918.5(DBT):c.176-4G>A
|
rs769021966
|
0.00001
|
NM_001918.5(DBT):c.198G>A (p.Gln66=)
|
rs201714436
|
0.00001
|
NM_001918.5(DBT):c.206T>C (p.Leu69Pro)
|
rs1663813561
|
0.00001
|
NM_001918.5(DBT):c.231A>G (p.Arg77=)
|
rs1028461413
|
0.00001
|
NM_001918.5(DBT):c.270T>C (p.Asp90=)
|
rs913574975
|
0.00001
|
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys)
|
rs727503896
|
0.00001
|
NM_001918.5(DBT):c.378C>T (p.Asp126=)
|
rs1410915223
|
0.00001
|
NM_001918.5(DBT):c.387C>T (p.Ala129=)
|
rs200503541
|
0.00001
|
NM_001918.5(DBT):c.420G>A (p.Thr140=)
|
rs771792232
|
0.00001
|
NM_001918.5(DBT):c.42G>A (p.Ala14=)
|
rs758610837
|
0.00001
|
NM_001918.5(DBT):c.434-15_434-4del
|
rs727503895
|
0.00001
|
NM_001918.5(DBT):c.495G>A (p.Glu165=)
|
rs1481747202
|
0.00001
|
NM_001918.5(DBT):c.52-1G>A
|
rs755914063
|
0.00001
|
NM_001918.5(DBT):c.52-5del
|
rs1234151678
|
0.00001
|
NM_001918.5(DBT):c.5C>T (p.Ala2Val)
|
rs398123672
|
0.00001
|
NM_001918.5(DBT):c.61C>T (p.Arg21Cys)
|
rs398123673
|
0.00001
|
NM_001918.5(DBT):c.624T>C (p.Tyr208=)
|
rs752504160
|
0.00001
|
NM_001918.5(DBT):c.673A>C (p.Ile225Leu)
|
rs1472099889
|
0.00001
|
NM_001918.5(DBT):c.765C>T (p.Pro255=)
|
rs767126022
|
0.00001
|
NM_001918.5(DBT):c.772+7A>T
|
rs904010521
|
0.00001
|
NM_001918.5(DBT):c.781A>G (p.Lys261Glu)
|
rs926492799
|
0.00001
|
NM_001918.5(DBT):c.815A>G (p.Lys272Arg)
|
rs1662393960
|
0.00001
|
NM_001918.5(DBT):c.836G>T (p.Cys279Phe)
|
rs1662392597
|
0.00001
|
NM_001918.5(DBT):c.837T>C (p.Cys279=)
|
rs1662392437
|
0.00001
|
NM_001918.5(DBT):c.871C>T (p.Arg291Ter)
|
rs398123675
|
0.00001
|
NM_001918.5(DBT):c.884A>G (p.Lys295Arg)
|
rs139216072
|
0.00001
|
NM_001918.5(DBT):c.902G>A (p.Arg301His)
|
rs770981889
|
0.00001
|
NM_001918.5(DBT):c.939+9C>T
|
rs779947502
|
0.00001
|
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)
|
rs398123676
|
0.00001
|
NC_000001.10:g.(?_100671776)_(100672202_?)del
|
|
|
NC_000001.10:g.(?_100680363)_(100684318_?)del
|
|
|
NC_000001.11:g.(?_100196235)_(100196442_?)del
|
|
|
NC_000001.11:g.(?_100214807)_(100230924_?)del
|
|
|
NC_000001.11:g.(?_100218757)_(100221872_?)del
|
|
|
NC_000001.11:g.(?_100240751)_(100240894_?)del
|
|
|
NC_000001.11:g.100196336_100215732del
|
|
|
NM_001918.5(DBT):c.1002G>T (p.Gln334His)
|
|
|
NM_001918.5(DBT):c.1014T>C (p.Tyr338=)
|
|
|
NM_001918.5(DBT):c.1017+10G>A
|
|
|
NM_001918.5(DBT):c.1017+11C>G
|
|
|
NM_001918.5(DBT):c.1017+15G>A
|
|
|
NM_001918.5(DBT):c.1017+16T>A
|
|
|
NM_001918.5(DBT):c.1017+1G>A
|
|
|
NM_001918.5(DBT):c.1017+1G>T
|
|
|
NM_001918.5(DBT):c.1018-10dup
|
rs1287581664
|
|
NM_001918.5(DBT):c.1018-15T>C
|
|
|
NM_001918.5(DBT):c.1018-16A>T
|
|
|
NM_001918.5(DBT):c.1018-17A>G
|
|
|
NM_001918.5(DBT):c.1018-2A>T
|
|
|
NM_001918.5(DBT):c.1018-3del
|
rs2100780335
|
|
NM_001918.5(DBT):c.1018-4T>C
|
|
|
NM_001918.5(DBT):c.1018-7T>G
|
rs2100780347
|
|
NM_001918.5(DBT):c.1018-9A>G
|
rs2100780356
|
|
NM_001918.5(DBT):c.1018-9del
|
rs2100780359
|
|
NM_001918.5(DBT):c.1032T>C (p.Ile344=)
|
|
|
NM_001918.5(DBT):c.1056G>A (p.Gln352=)
|
rs2100780252
|
|
NM_001918.5(DBT):c.1061T>C (p.Leu354Ser)
|
rs1296308942
|
|
NM_001918.5(DBT):c.1065T>A (p.Ile355=)
|
|
|
NM_001918.5(DBT):c.1068C>T (p.Val356=)
|
|
|
NM_001918.5(DBT):c.1077G>A (p.Val359=)
|
|
|
NM_001918.5(DBT):c.1089G>A (p.Gln363=)
|
rs2100780197
|
|
NM_001918.5(DBT):c.1098T>G (p.Ser366=)
|
rs1422504862
|
|
NM_001918.5(DBT):c.1107C>T (p.Asp369=)
|
rs2100780132
|
|
NM_001918.5(DBT):c.1116T>C (p.Thr372=)
|
|
|
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)
|
rs768389398
|
|
NM_001918.5(DBT):c.1131C>T (p.Leu377=)
|
rs1661802261
|
|
NM_001918.5(DBT):c.113_114del (p.Cys38fs)
|
rs2100844690
|
|
NM_001918.5(DBT):c.1140G>A (p.Leu380=)
|
rs2100780071
|
|
NM_001918.5(DBT):c.1152T>C (p.Ser384=)
|
rs2100780004
|
|
NM_001918.5(DBT):c.1158C>G (p.Leu386=)
|
rs139943180
|
|
NM_001918.5(DBT):c.1170T>G (p.Asp390Glu)
|
rs1661798658
|
|
NM_001918.5(DBT):c.1173T>C (p.Leu391=)
|
|
|
NM_001918.5(DBT):c.1185A>T (p.Thr395=)
|
|
|
NM_001918.5(DBT):c.1191T>A (p.Thr397=)
|
rs2100779891
|
|
NM_001918.5(DBT):c.1191T>C (p.Thr397=)
|
rs2100779891
|
|
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)
|
rs1553229654
|
|
NM_001918.5(DBT):c.1195del (p.Ser399fs)
|
rs2100779888
|
|
NM_001918.5(DBT):c.1200C>T (p.Asn400=)
|
|
|
NM_001918.5(DBT):c.1209+9T>C
|
|
|
NM_001918.5(DBT):c.1209+9_1209+10dup
|
|
|
NM_001918.5(DBT):c.120T>C (p.Phe40=)
|
|
|
NM_001918.5(DBT):c.1210-10del
|
rs398123658
|
|
NM_001918.5(DBT):c.1210-10dup
|
rs398123658
|
|
NM_001918.5(DBT):c.1210-11_1210-10inv
|
|
|
NM_001918.5(DBT):c.1210-12T>A
|
|
|
NM_001918.5(DBT):c.1210-12T>G
|
|
|
NM_001918.5(DBT):c.1210-1G>C
|
|
|
NM_001918.5(DBT):c.1210-3T>A
|
|
|
NM_001918.5(DBT):c.1210-4del
|
rs201117345
|
|
NM_001918.5(DBT):c.1210-4dup
|
rs201117345
|
|
NM_001918.5(DBT):c.1210-8_1210-7insT
|
|
|
NM_001918.5(DBT):c.1210-9_1210-8insTT
|
|
|
NM_001918.5(DBT):c.1210-9_1210-8inv
|
|
|
NM_001918.5(DBT):c.1212T>C (p.Ile404=)
|
|
|
NM_001918.5(DBT):c.1212T>G (p.Ile404Met)
|
rs2100779467
|
|
NM_001918.5(DBT):c.1215T>C (p.Gly405=)
|
|
|
NM_001918.5(DBT):c.1219A>G (p.Thr407Ala)
|
|
|
NM_001918.5(DBT):c.1221C>T (p.Thr407=)
|
|
|
NM_001918.5(DBT):c.1227C>T (p.Ala409=)
|
|
|
NM_001918.5(DBT):c.1230A>C (p.Lys410Asn)
|
|
|
NM_001918.5(DBT):c.1232C>T (p.Pro411Leu)
|
rs2100779419
|
|
NM_001918.5(DBT):c.1238T>C (p.Ile413Thr)
|
|
|
NM_001918.5(DBT):c.123T>C (p.Gly41=)
|
rs2100844658
|
|
NM_001918.5(DBT):c.1245A>G (p.Pro415=)
|
|
|
NM_001918.5(DBT):c.1248T>C (p.Pro416=)
|
rs2100779369
|
|
NM_001918.5(DBT):c.1251A>G (p.Glu417=)
|
|
|
NM_001918.5(DBT):c.1259T>C (p.Ile420Thr)
|
|
|
NM_001918.5(DBT):c.1260T>C (p.Ile420=)
|
|
|
NM_001918.5(DBT):c.1264G>A (p.Ala422Thr)
|
|
|
NM_001918.5(DBT):c.1264dup (p.Ala422fs)
|
rs1401829291
|
|
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)
|
rs794727262
|
|
NM_001918.5(DBT):c.1275A>G (p.Ser425=)
|
rs1570806049
|
|
NM_001918.5(DBT):c.1276A>G (p.Ile426Val)
|
rs1471693880
|
|
NM_001918.5(DBT):c.1281+10T>C
|
rs2100779244
|
|
NM_001918.5(DBT):c.1281+13G>A
|
|
|
NM_001918.5(DBT):c.1281+18C>T
|
|
|
NM_001918.5(DBT):c.1281+1G>C
|
rs1557943881
|
|
NM_001918.5(DBT):c.1281+2T>A
|
rs2100779270
|
|
NM_001918.5(DBT):c.1281+8_1281+20del
|
|
|
NM_001918.5(DBT):c.1281+9A>G
|
|
|
NM_001918.5(DBT):c.1282-10_1282-9dup
|
|
|
NM_001918.5(DBT):c.1282-11_1282-9del
|
|
|
NM_001918.5(DBT):c.1282-12_1282-9del
|
rs1557939390
|
|
NM_001918.5(DBT):c.1282-13T>A
|
rs1374973220
|
|
NM_001918.5(DBT):c.1282-13T>C
|
|
|
NM_001918.5(DBT):c.1282-13_1282-10dup
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-14T>A
|
rs1315625069
|
|
NM_001918.5(DBT):c.1282-14_1282-10dup
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-14_1282-9del
|
rs760164623
|
|
NM_001918.5(DBT):c.1282-15T>A
|
rs763988935
|
|
NM_001918.5(DBT):c.1282-15_1282-10dup
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-15_1282-9del
|
rs1557939402
|
|
NM_001918.5(DBT):c.1282-16T>A
|
|
|
NM_001918.5(DBT):c.1282-16T>C
|
|
|
NM_001918.5(DBT):c.1282-16_1282-9del
|
|
|
NM_001918.5(DBT):c.1282-18T>C
|
|
|
NM_001918.5(DBT):c.1282-18_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-19T>C
|
|
|
NM_001918.5(DBT):c.1282-19_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-20T>C
|
|
|
NM_001918.5(DBT):c.1282-20_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-21_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-21_1282-10dup
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-22_1282-10del
|
|
|
NM_001918.5(DBT):c.1282-23_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-23_1282-10dup
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-24_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-24_1282-10dup
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-25_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-26_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-4C>A
|
rs1410431336
|
|
NM_001918.5(DBT):c.1282-4C>T
|
rs1410431336
|
|
NM_001918.5(DBT):c.1282-7T>C
|
|
|
NM_001918.5(DBT):c.1282-8A>G
|
rs764781766
|
|
NM_001918.5(DBT):c.1282-9C>A
|
rs1404199687
|
|
NM_001918.5(DBT):c.1282-9dup
|
|
|
NM_001918.5(DBT):c.1283C>T (p.Ala428Val)
|
rs2100761237
|
|
NM_001918.5(DBT):c.1292G>C (p.Arg431Pro)
|
rs776490043
|
|
NM_001918.5(DBT):c.129T>G (p.Pro43=)
|
|
|
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys)
|
rs772490888
|
|
NM_001918.5(DBT):c.1314A>G (p.Val438=)
|
|
|
NM_001918.5(DBT):c.1317T>C (p.Tyr439=)
|
rs2100761130
|
|
NM_001918.5(DBT):c.1324C>T (p.Gln442Ter)
|
rs1276927916
|
|
NM_001918.5(DBT):c.1333_1336del (p.Met444_Asn445insTer)
|
rs2100761028
|
|
NM_001918.5(DBT):c.1342_1351del (p.Trp448fs)
|
|
|
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)
|
rs749366506
|
|
NM_001918.5(DBT):c.1347A>G (p.Ser449=)
|
|
|
NM_001918.5(DBT):c.1372G>T (p.Ala458Ser)
|
|
|
NM_001918.5(DBT):c.1375A>G (p.Thr459Ala)
|
|
|
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)
|
rs1553228626
|
|
NM_001918.5(DBT):c.1383A>C (p.Ser461=)
|
rs2100760925
|
|
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro)
|
rs750594890
|
|
NM_001918.5(DBT):c.1389C>T (p.Phe463=)
|
rs886044964
|
|
NM_001918.5(DBT):c.138G>A (p.Lys46=)
|
|
|
NM_001918.5(DBT):c.1394A>G (p.Asn465Ser)
|
|
|
NM_001918.5(DBT):c.1398G>A (p.Leu466=)
|
rs1661085210
|
|
NM_001918.5(DBT):c.1407C>G (p.Ser469=)
|
rs2100760846
|
|
NM_001918.5(DBT):c.1410T>C (p.Tyr470=)
|
rs2100760833
|
|
NM_001918.5(DBT):c.1419C>T (p.Asn473=)
|
|
|
NM_001918.5(DBT):c.1420C>A (p.Pro474Thr)
|
|
|
NM_001918.5(DBT):c.143_146dup (p.His49fs)
|
rs1384034981
|
|
NM_001918.5(DBT):c.1441C>T (p.Leu481=)
|
|
|
NM_001918.5(DBT):c.14G>A (p.Arg5His)
|
|
|
NM_001918.5(DBT):c.159C>T (p.Phe53=)
|
rs772209054
|
|
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del)
|
rs771945254
|
|
NM_001918.5(DBT):c.16A>G (p.Met6Val)
|
|
|
NM_001918.5(DBT):c.175+10A>G
|
|
|
NM_001918.5(DBT):c.175+16A>G
|
|
|
NM_001918.5(DBT):c.175+1G>A
|
rs2100844517
|
|
NM_001918.5(DBT):c.175+7A>T
|
|
|
NM_001918.5(DBT):c.176-15C>G
|
|
|
NM_001918.5(DBT):c.176-15C>T
|
|
|
NM_001918.5(DBT):c.17dup (p.Met6fs)
|
rs2100772715
|
|
NM_001918.5(DBT):c.181C>T (p.Arg61Cys)
|
|
|
NM_001918.5(DBT):c.182G>A (p.Arg61His)
|
|
|
NM_001918.5(DBT):c.207C>G (p.Leu69=)
|
|
|
NM_001918.5(DBT):c.207C>T (p.Leu69=)
|
|
|
NM_001918.5(DBT):c.215T>C (p.Ile72Thr)
|
rs565879664
|
|
NM_001918.5(DBT):c.225G>A (p.Gly75=)
|
rs2100834832
|
|
NM_001918.5(DBT):c.228T>C (p.Ile76=)
|
|
|
NM_001918.5(DBT):c.230G>A (p.Arg77Lys)
|
|
|
NM_001918.5(DBT):c.241_242del (p.Thr80_Val81insTer)
|
rs2100834784
|
|
NM_001918.5(DBT):c.243T>G (p.Val81=)
|
|
|
NM_001918.5(DBT):c.246A>G (p.Lys82=)
|
|
|
NM_001918.5(DBT):c.247del (p.Glu83fs)
|
|
|
NM_001918.5(DBT):c.251+15A>G
|
|
|
NM_001918.5(DBT):c.251+17A>G
|
|
|
NM_001918.5(DBT):c.251+18A>G
|
|
|
NM_001918.5(DBT):c.251+19dup
|
rs201469612
|
|
NM_001918.5(DBT):c.251+8A>T
|
|
|
NM_001918.5(DBT):c.251+9A>G
|
|
|
NM_001918.5(DBT):c.252-12T>G
|
|
|
NM_001918.5(DBT):c.252-1G>T
|
rs1663522846
|
|
NM_001918.5(DBT):c.252-8T>C
|
rs2100827755
|
|
NM_001918.5(DBT):c.258A>G (p.Val86=)
|
|
|
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)
|
rs1217050849
|
|
NM_001918.5(DBT):c.261del (p.Glu88fs)
|
rs1570836175
|
|
NM_001918.5(DBT):c.264A>G (p.Glu88=)
|
rs1557956728
|
|
NM_001918.5(DBT):c.272_275del (p.Thr91fs)
|
rs398123666
|
|
NM_001918.5(DBT):c.273A>C (p.Thr91=)
|
rs2100827682
|
|
NM_001918.5(DBT):c.273A>G (p.Thr91=)
|
|
|
NM_001918.5(DBT):c.280C>T (p.Gln94Ter)
|
|
|
NM_001918.5(DBT):c.282G>A (p.Gln94=)
|
rs2100827660
|
|
NM_001918.5(DBT):c.288T>C (p.Asp96=)
|
|
|
NM_001918.5(DBT):c.292A>G (p.Ile98Val)
|
|
|
NM_001918.5(DBT):c.296G>A (p.Cys99Tyr)
|
rs1557956678
|
|
NM_001918.5(DBT):c.29G>A (p.Trp10Ter)
|
rs572340170
|
|
NM_001918.5(DBT):c.300A>G (p.Glu100=)
|
rs772023545
|
|
NM_001918.5(DBT):c.304C>T (p.Gln102Ter)
|
rs2100827593
|
|
NM_001918.5(DBT):c.311A>G (p.Asp104Gly)
|
rs1553232188
|
|
NM_001918.5(DBT):c.311A>T (p.Asp104Val)
|
rs1553232188
|
|
NM_001918.5(DBT):c.321T>A (p.Ser107=)
|
|
|
NM_001918.5(DBT):c.333T>C (p.Thr111=)
|
|
|
NM_001918.5(DBT):c.336T>C (p.Ser112=)
|
rs1254104594
|
|
NM_001918.5(DBT):c.342T>C (p.Tyr114=)
|
rs1207748719
|
|
NM_001918.5(DBT):c.351C>T (p.Val117=)
|
rs767953425
|
|
NM_001918.5(DBT):c.363_364del (p.Tyr122fs)
|
rs753574354
|
|
NM_001918.5(DBT):c.364dup (p.Tyr122fs)
|
|
|
NM_001918.5(DBT):c.365_366del (p.Tyr122fs)
|
rs2100827350
|
|
NM_001918.5(DBT):c.366T>C (p.Tyr122=)
|
|
|
NM_001918.5(DBT):c.369T>C (p.Tyr123=)
|
rs2100827345
|
|
NM_001918.5(DBT):c.36G>A (p.Arg12=)
|
rs147775797
|
|
NM_001918.5(DBT):c.36G>C (p.Arg12Ser)
|
|
|
NM_001918.5(DBT):c.384T>C (p.Ile128=)
|
rs918466852
|
|
NM_001918.5(DBT):c.398A>T (p.Lys133Met)
|
|
|
NM_001918.5(DBT):c.39T>C (p.Asn13=)
|
rs1431500513
|
|
NM_001918.5(DBT):c.408A>G (p.Val136=)
|
rs528365976
|
|
NM_001918.5(DBT):c.427T>C (p.Leu143=)
|
rs2100827179
|
|
NM_001918.5(DBT):c.42G>C (p.Ala14=)
|
|
|
NM_001918.5(DBT):c.42G>T (p.Ala14=)
|
rs758610837
|
|
NM_001918.5(DBT):c.433+10G>A
|
rs1024314250
|
|
NM_001918.5(DBT):c.433+10G>C
|
rs1024314250
|
|
NM_001918.5(DBT):c.433+13T>G
|
|
|
NM_001918.5(DBT):c.433+17A>C
|
|
|
NM_001918.5(DBT):c.433+6G>A
|
|
|
NM_001918.5(DBT):c.433+7dup
|
rs2100827150
|
|
NM_001918.5(DBT):c.433+8A>G
|
|
|
NM_001918.5(DBT):c.434-11C>T
|
|
|
NM_001918.5(DBT):c.434-14T>C
|
|
|
NM_001918.5(DBT):c.434-17T>G
|
|
|
NM_001918.5(DBT):c.434-1G>A
|
rs754004231
|
|
NM_001918.5(DBT):c.434-4C>T
|
|
|
NM_001918.5(DBT):c.437C>A (p.Ser146Ter)
|
|
|
NM_001918.5(DBT):c.442G>T (p.Glu148Ter)
|
rs1570820579
|
|
NM_001918.5(DBT):c.449TTG[1] (p.Val151del)
|
rs773087765
|
|
NM_001918.5(DBT):c.451G>A (p.Val151Ile)
|
rs1282153768
|
|
NM_001918.5(DBT):c.457del (p.Thr153fs)
|
|
|
NM_001918.5(DBT):c.45G>T (p.Gly15=)
|
|
|
NM_001918.5(DBT):c.465A>C (p.Ala155=)
|
|
|
NM_001918.5(DBT):c.474T>C (p.His158=)
|
rs2100804457
|
|
NM_001918.5(DBT):c.475G>A (p.Asp159Asn)
|
|
|
NM_001918.5(DBT):c.479A>C (p.Glu160Ala)
|
|
|
NM_001918.5(DBT):c.480A>G (p.Glu160=)
|
|
|
NM_001918.5(DBT):c.483T>C (p.His161=)
|
rs2100804431
|
|
NM_001918.5(DBT):c.488_489del (p.His163fs)
|
rs760861011
|
|
NM_001918.5(DBT):c.4G>A (p.Ala2Thr)
|
rs760664814
|
|
NM_001918.5(DBT):c.501G>A (p.Lys167=)
|
|
|
NM_001918.5(DBT):c.501_513del (p.Lys167fs)
|
|
|
NM_001918.5(DBT):c.51+11T>C
|
|
|
NM_001918.5(DBT):c.51+13_51+14insT
|
|
|
NM_001918.5(DBT):c.51+14G>C
|
|
|
NM_001918.5(DBT):c.51+18G>C
|
|
|
NM_001918.5(DBT):c.51+18G>T
|
|
|
NM_001918.5(DBT):c.51+1G>T
|
rs398123669
|
|
NM_001918.5(DBT):c.51+7A>G
|
|
|
NM_001918.5(DBT):c.510A>G (p.Lys170=)
|
rs1570820389
|
|
NM_001918.5(DBT):c.512C>T (p.Thr171Ile)
|
|
|
NM_001918.5(DBT):c.514C>T (p.Leu172=)
|
rs1344704881
|
|
NM_001918.5(DBT):c.516_522del (p.Ala173fs)
|
rs2100804340
|
|
NM_001918.5(DBT):c.52-10T>G
|
|
|
NM_001918.5(DBT):c.52-18T>G
|
rs1052822218
|
|
NM_001918.5(DBT):c.52-4G>A
|
rs2100844854
|
|
NM_001918.5(DBT):c.52-5T>C
|
|
|
NM_001918.5(DBT):c.52-6del
|
rs2100844868
|
|
NM_001918.5(DBT):c.52-9C>T
|
|
|
NM_001918.5(DBT):c.528A>G (p.Ala176=)
|
|
|
NM_001918.5(DBT):c.531_537del (p.Arg178fs)
|
rs1372109444
|
|
NM_001918.5(DBT):c.533G>A (p.Arg178His)
|
|
|
NM_001918.5(DBT):c.537T>C (p.Arg179=)
|
|
|
NM_001918.5(DBT):c.538C>G (p.Leu180Val)
|
rs2100804291
|
|
NM_001918.5(DBT):c.549A>G (p.Glu183=)
|
rs2100804264
|
|
NM_001918.5(DBT):c.54T>C (p.Ile18=)
|
rs1171616529
|
|
NM_001918.5(DBT):c.555+8C>A
|
rs548611008
|
|
NM_001918.5(DBT):c.555+8C>T
|
|
|
NM_001918.5(DBT):c.555dup (p.Ile186fs)
|
|
|
NM_001918.5(DBT):c.556-12A>G
|
|
|
NM_001918.5(DBT):c.556-14A>G
|
|
|
NM_001918.5(DBT):c.556-3dup
|
|
|
NM_001918.5(DBT):c.556-5T>C
|
|
|
NM_001918.5(DBT):c.576T>C (p.Val192=)
|
|
|
NM_001918.5(DBT):c.577G>A (p.Gly193Ser)
|
rs398123671
|
|
NM_001918.5(DBT):c.579C>T (p.Gly193=)
|
|
|
NM_001918.5(DBT):c.581C>A (p.Ser194Ter)
|
|
|
NM_001918.5(DBT):c.595A>G (p.Arg199Gly)
|
rs2100799976
|
|
NM_001918.5(DBT):c.630A>G (p.Glu210=)
|
|
|
NM_001918.5(DBT):c.634C>T (p.Gln212Ter)
|
rs1553230841
|
|
NM_001918.5(DBT):c.639del (p.Gly214fs)
|
|
|
NM_001918.5(DBT):c.63C>G (p.Arg21=)
|
|
|
NM_001918.5(DBT):c.642A>C (p.Gly214=)
|
|
|
NM_001918.5(DBT):c.645T>G (p.Ala215=)
|
|
|
NM_001918.5(DBT):c.650dup (p.Leu217fs)
|
|
|
NM_001918.5(DBT):c.663C>T (p.Pro221=)
|
rs1662468729
|
|
NM_001918.5(DBT):c.666A>G (p.Lys222=)
|
|
|
NM_001918.5(DBT):c.667G>A (p.Val223Ile)
|
|
|
NM_001918.5(DBT):c.668T>G (p.Val223Gly)
|
rs772801811
|
|
NM_001918.5(DBT):c.676A>G (p.Met226Val)
|
|
|
NM_001918.5(DBT):c.696A>G (p.Pro232=)
|
rs2100799691
|
|
NM_001918.5(DBT):c.6T>A (p.Ala2=)
|
rs1240475402
|
|
NM_001918.5(DBT):c.6T>G (p.Ala2=)
|
rs1240475402
|
|
NM_001918.5(DBT):c.702C>T (p.Asp234=)
|
|
|
NM_001918.5(DBT):c.709G>C (p.Val237Leu)
|
rs947272551
|
|
NM_001918.5(DBT):c.714T>C (p.Pro238=)
|
|
|
NM_001918.5(DBT):c.715A>C (p.Ile239Leu)
|
|
|
NM_001918.5(DBT):c.725C>G (p.Ser242Ter)
|
rs201559874
|
|
NM_001918.5(DBT):c.735G>A (p.Pro245=)
|
|
|
NM_001918.5(DBT):c.741C>T (p.Phe247=)
|
|
|
NM_001918.5(DBT):c.744A>C (p.Thr248=)
|
rs765082016
|
|
NM_001918.5(DBT):c.747C>G (p.Gly249=)
|
rs200612682
|
|
NM_001918.5(DBT):c.75A>T (p.Thr25=)
|
|
|
NM_001918.5(DBT):c.762del (p.Glu254fs)
|
rs2100799447
|
|
NM_001918.5(DBT):c.772+11T>C
|
|
|
NM_001918.5(DBT):c.772+17C>G
|
|
|
NM_001918.5(DBT):c.772+17_772+19del
|
|
|
NM_001918.5(DBT):c.772+19A>G
|
|
|
NM_001918.5(DBT):c.772+1G>C
|
rs2100799417
|
|
NM_001918.5(DBT):c.772+2T>G
|
|
|
NM_001918.5(DBT):c.772+7A>G
|
|
|
NM_001918.5(DBT):c.772+8T>C
|
|
|
NM_001918.5(DBT):c.772+8TAA[2]
|
|
|
NM_001918.5(DBT):c.772+9A>G
|
rs2100799392
|
|
NM_001918.5(DBT):c.773-14T>G
|
|
|
NM_001918.5(DBT):c.773-4T>C
|
|
|
NM_001918.5(DBT):c.783del (p.Ala262fs)
|
|
|
NM_001918.5(DBT):c.787A>G (p.Met263Val)
|
rs753685282
|
|
NM_001918.5(DBT):c.788T>C (p.Met263Thr)
|
rs1553230703
|
|
NM_001918.5(DBT):c.792C>G (p.Val264=)
|
rs2100797477
|
|
NM_001918.5(DBT):c.799A>T (p.Met267Leu)
|
|
|
NM_001918.5(DBT):c.799_800del (p.Met267fs)
|
|
|
NM_001918.5(DBT):c.804T>A (p.Ser268=)
|
rs1283378890
|
|
NM_001918.5(DBT):c.804T>C (p.Ser268=)
|
rs1283378890
|
|
NM_001918.5(DBT):c.813G>A (p.Leu271=)
|
|
|
NM_001918.5(DBT):c.828del (p.Phe276fs)
|
|
|
NM_001918.5(DBT):c.82_84dup (p.Asn28dup)
|
rs746916491
|
|
NM_001918.5(DBT):c.831T>C (p.Gly277=)
|
rs2100797397
|
|
NM_001918.5(DBT):c.834T>C (p.Tyr278=)
|
rs2100797369
|
|
NM_001918.5(DBT):c.849C>T (p.Asp283=)
|
|
|
NM_001918.5(DBT):c.84T>C (p.Asn28=)
|
|
|
NM_001918.5(DBT):c.853A>C (p.Thr285Pro)
|
rs1662391542
|
|
NM_001918.5(DBT):c.855T>C (p.Thr285=)
|
|
|
NM_001918.5(DBT):c.861G>A (p.Leu287=)
|
|
|
NM_001918.5(DBT):c.86T>C (p.Val29Ala)
|
rs1473273369
|
|
NM_001918.5(DBT):c.870C>T (p.Leu290=)
|
|
|
NM_001918.5(DBT):c.872G>A (p.Arg291Gln)
|
|
|
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)
|
rs775808731
|
|
NM_001918.5(DBT):c.876A>G (p.Glu292=)
|
|
|
NM_001918.5(DBT):c.87T>A (p.Val29=)
|
rs2100844766
|
|
NM_001918.5(DBT):c.881T>A (p.Leu294Ter)
|
|
|
NM_001918.5(DBT):c.883A>C (p.Lys295Gln)
|
rs1158505606
|
|
NM_001918.5(DBT):c.891T>C (p.Ile297=)
|
rs1184322880
|
|
NM_001918.5(DBT):c.894A>C (p.Ala298=)
|
|
|
NM_001918.5(DBT):c.897T>C (p.Phe299=)
|
rs2100797177
|
|
NM_001918.5(DBT):c.899C>T (p.Ala300Val)
|
|
|
NM_001918.5(DBT):c.903T>C (p.Arg301=)
|
|
|
NM_001918.5(DBT):c.910_919del (p.Lys304fs)
|
rs2100797119
|
|
NM_001918.5(DBT):c.913C>T (p.Leu305Phe)
|
|
|
NM_001918.5(DBT):c.915C>T (p.Leu305=)
|
rs2100797139
|
|
NM_001918.5(DBT):c.916T>C (p.Ser306Pro)
|
rs2100797134
|
|
NM_001918.5(DBT):c.917C>G (p.Ser306Cys)
|
rs794727856
|
|
NM_001918.5(DBT):c.932T>C (p.Phe311Ser)
|
rs1662388035
|
|
NM_001918.5(DBT):c.933C>T (p.Phe311=)
|
rs2100797103
|
|
NM_001918.5(DBT):c.936A>G (p.Leu312=)
|
|
|
NM_001918.5(DBT):c.939+10A>G
|
rs1450707467
|
|
NM_001918.5(DBT):c.939+13C>G
|
|
|
NM_001918.5(DBT):c.939+7T>C
|
|
|
NM_001918.5(DBT):c.940-10T>C
|
rs1306548973
|
|
NM_001918.5(DBT):c.940-17C>A
|
|
|
NM_001918.5(DBT):c.940-18T>G
|
rs2100788572
|
|
NM_001918.5(DBT):c.940-4A>C
|
|
|
NM_001918.5(DBT):c.940-5A>C
|
rs1296647053
|
|
NM_001918.5(DBT):c.940-7T>C
|
rs2100788531
|
|
NM_001918.5(DBT):c.940-7del
|
rs2100788542
|
|
NM_001918.5(DBT):c.940-9G>T
|
|
|
NM_001918.5(DBT):c.940G>T (p.Ala314Ser)
|
|
|
NM_001918.5(DBT):c.945T>C (p.Ala315=)
|
rs2100788485
|
|
NM_001918.5(DBT):c.947_950del (p.Ser316fs)
|
|
|
NM_001918.5(DBT):c.960A>G (p.Leu320=)
|
rs2100788475
|
|
NM_001918.5(DBT):c.961C>T (p.Gln321Ter)
|
rs1662088383
|
|
NM_001918.5(DBT):c.961_962del (p.Gln321fs)
|
rs2100788460
|
|
NM_001918.5(DBT):c.962A>T (p.Gln321Leu)
|
rs758048048
|
|
NM_001918.5(DBT):c.963G>A (p.Gln321=)
|
rs762063921
|
|
NM_001918.5(DBT):c.963G>C (p.Gln321His)
|
|
|
NM_001918.5(DBT):c.967_975dup (p.Pro323_Leu325dup)
|
rs1557946237
|
|
NM_001918.5(DBT):c.979G>A (p.Ala327Thr)
|
|
|
NM_001918.5(DBT):c.990T>C (p.Asp330=)
|
rs2100788342
|
|
NM_001918.5(DBT):c.991G>A (p.Glu331Lys)
|
rs2100788336
|
|
NM_001918.5(DBT):c.995A>G (p.Asn332Ser)
|
|
|
NM_001918.5(DBT):c.99G>A (p.Lys33=)
|
rs2100844736
|
|
NM_001918.5(DBT):c.9A>T (p.Ala3=)
|
rs772869478
|
|