NM_000152.5(GAA):c.2331+20G>A
|
rs2304832
|
0.80041
|
NM_000152.5(GAA):c.2040+20A>G
|
rs2304836
|
0.72004
|
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
NM_000152.5(GAA):c.1327-18A>G
|
rs2278619
|
0.71811
|
NM_000152.5(GAA):c.1551+49C>A
|
rs2304843
|
0.66585
|
NM_000152.5(GAA):c.547-39T>G
|
rs12452721
|
0.65696
|
NM_000152.5(GAA):c.596A>G (p.His199Arg)
|
rs1042393
|
0.65667
|
NM_000152.5(GAA):c.547-4C>G
|
rs3816256
|
0.65665
|
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
NM_000152.5(GAA):c.1438-19G>C
|
rs2304844
|
0.65495
|
NM_000152.5(GAA):c.955+12G>A
|
rs2252455
|
0.65487
|
NM_000152.5(GAA):c.1203G>A (p.Gln401=)
|
rs1800304
|
0.65453
|
NM_000152.5(GAA):c.858+30T>C
|
rs2304845
|
0.65092
|
NM_000152.5(GAA):c.2553G>A (p.Gly851=)
|
rs1042397
|
0.57872
|
NM_000152.5(GAA):c.2133A>G (p.Thr711=)
|
rs1800310
|
0.23591
|
NM_000152.5(GAA):c.1581G>A (p.Arg527=)
|
rs1042396
|
0.20175
|
NM_000152.5(GAA):c.642C>T (p.Ser214=)
|
rs1800301
|
0.16610
|
NM_000152.5(GAA):c.2331+24T>C
|
rs2304831
|
0.13841
|
NM_000152.5(GAA):c.921A>T (p.Ala307=)
|
rs1800303
|
0.11304
|
NM_000152.5(GAA):c.1374C>T (p.Tyr458=)
|
rs1800305
|
0.10079
|
NM_000152.5(GAA):c.693-49C>T
|
rs78855075
|
0.09045
|
NM_000152.5(GAA):c.1754+12G>A
|
rs2304840
|
0.06396
|
NM_000152.5(GAA):c.2446G>A (p.Val816Ile)
|
rs1800314
|
0.05752
|
NM_000152.5(GAA):c.1636+43G>T
|
rs2304842
|
0.05728
|
NM_000152.5(GAA):c.*3G>A
|
rs1800317
|
0.05534
|
NM_000152.5(GAA):c.1888+21G>A
|
rs2304837
|
0.05276
|
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)
|
rs1800315
|
0.04402
|
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309
|
0.04051
|
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299
|
0.02215
|
NM_000152.5(GAA):c.1075+13C>T
|
rs41292402
|
0.01065
|
NM_000152.5(GAA):c.1551+42G>A
|
rs115427918
|
0.00904
|
NM_000152.5(GAA):c.2400C>T (p.Ser800=)
|
rs115705591
|
0.00724
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
NM_000152.5(GAA):c.852G>A (p.Ala284=)
|
rs142626724
|
0.00638
|
NM_000152.5(GAA):c.546+18G>A
|
rs190153982
|
0.00474
|
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894
|
0.00459
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
NM_000152.5(GAA):c.2646+39G>A
|
rs41292410
|
0.00350
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
NM_000152.5(GAA):c.2647-8C>T
|
rs139201641
|
0.00216
|
NM_000152.5(GAA):c.676C>G (p.Leu226Val)
|
rs113085339
|
0.00193
|
NM_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
NM_000152.5(GAA):c.258C>A (p.Pro86=)
|
rs146615896
|
0.00170
|
NM_000152.5(GAA):c.692+17G>C
|
rs199559553
|
0.00147
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00140
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
NM_000152.5(GAA):c.1755-18T>C
|
rs201399518
|
0.00082
|
NM_000152.5(GAA):c.2040+19C>T
|
rs559131285
|
0.00058
|
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr)
|
rs145712232
|
0.00057
|
NM_000152.5(GAA):c.1438-9G>A
|
rs202211401
|
0.00056
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00056
|
NM_000152.5(GAA):c.858+8G>A
|
rs5822325
|
0.00055
|
NM_000152.5(GAA):c.859-18G>A
|
rs377222482
|
0.00046
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000152.5(GAA):c.600C>T (p.Val200=)
|
rs150895924
|
0.00038
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_000152.5(GAA):c.2478G>A (p.Leu826=)
|
rs201183207
|
0.00031
|
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)
|
rs200294882
|
0.00026
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys)
|
rs144857480
|
0.00024
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
NM_000152.5(GAA):c.2040+17G>A
|
rs534129336
|
0.00023
|
NM_000152.5(GAA):c.1599C>T (p.Cys533=)
|
rs142766716
|
0.00022
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
0.00019
|
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu)
|
rs528369909
|
0.00018
|
NM_000152.5(GAA):c.1320G>T (p.Met440Ile)
|
rs550837627
|
0.00017
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324
|
0.00015
|
NM_000152.5(GAA):c.368G>A (p.Gly123Glu)
|
rs138034915
|
0.00015
|
NM_000152.5(GAA):c.2052G>A (p.Pro684=)
|
rs546463058
|
0.00014
|
NM_000152.5(GAA):c.1755-7A>G
|
rs781539108
|
0.00013
|
NM_000152.5(GAA):c.1872C>T (p.Leu624=)
|
rs373103422
|
0.00011
|
NM_000152.5(GAA):c.1637-12C>T
|
rs374923144
|
0.00010
|
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428
|
0.00010
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000152.5(GAA):c.1482A>G (p.Thr494=)
|
rs202064115
|
0.00009
|
NM_000152.5(GAA):c.546+6C>T
|
rs375727055
|
0.00009
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
NM_000152.5(GAA):c.1636+8C>T
|
rs572293131
|
0.00007
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
0.00007
|
NM_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
0.00007
|
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229
|
0.00006
|
NM_000152.5(GAA):c.1754+17G>A
|
rs769797291
|
0.00006
|
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)
|
rs200202628
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000152.5(GAA):c.2800-11C>G
|
rs374571499
|
0.00006
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
NM_000152.5(GAA):c.858+15G>A
|
rs754760986
|
0.00006
|
NM_000152.5(GAA):c.1075+20C>T
|
rs370379513
|
0.00005
|
NM_000152.5(GAA):c.1075+9T>C
|
rs751918816
|
0.00005
|
NM_000152.5(GAA):c.1437+19G>A
|
rs746904197
|
0.00005
|
NM_000152.5(GAA):c.1932C>T (p.Ala644=)
|
rs746194098
|
0.00005
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000152.5(GAA):c.-104C>T
|
rs960427191
|
0.00003
|
NM_000152.5(GAA):c.1075+12T>G
|
rs370842677
|
0.00003
|
NM_000152.5(GAA):c.1437+8G>A
|
rs779194427
|
0.00003
|
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)
|
rs759292700
|
0.00003
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
NM_000152.5(GAA):c.351G>A (p.Leu117=)
|
rs574947353
|
0.00003
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
NM_000152.5(GAA):c.955+14C>A
|
rs756921041
|
0.00003
|
NM_000152.5(GAA):c.-2C>T
|
rs560511228
|
0.00002
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
NM_000152.5(GAA):c.1194+17G>T
|
rs548850587
|
0.00002
|
NM_000152.5(GAA):c.1195-22C>T
|
rs1038744830
|
0.00002
|
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)
|
rs377286472
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000152.5(GAA):c.868A>G (p.Asn290Asp)
|
rs552929702
|
0.00002
|
NM_000152.5(GAA):c.972G>A (p.Pro324=)
|
rs763445243
|
0.00002
|
NM_000152.5(GAA):c.-33+17C>T
|
rs1157266131
|
0.00001
|
NM_000152.5(GAA):c.-37A>G
|
rs907981020
|
0.00001
|
NM_000152.5(GAA):c.1075+4G>A
|
rs754290055
|
0.00001
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
NM_000152.5(GAA):c.1485C>T (p.Ala495=)
|
rs765596792
|
0.00001
|
NM_000152.5(GAA):c.1551+12C>A
|
rs937342824
|
0.00001
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
NM_000152.5(GAA):c.2025C>T (p.Asn675=)
|
rs143951130
|
0.00001
|
NM_000152.5(GAA):c.2041-17C>T
|
rs746028622
|
0.00001
|
NM_000152.5(GAA):c.2166C>T (p.Thr722=)
|
rs759452172
|
0.00001
|
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn)
|
rs755272974
|
0.00001
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
NM_000152.5(GAA):c.2820G>A (p.Ser940=)
|
rs992579033
|
0.00001
|
NM_000152.5(GAA):c.692+9T>C
|
rs367661167
|
0.00001
|
NM_000152.5(GAA):c.780C>T (p.Leu260=)
|
rs372614893
|
0.00001
|
NM_000152.5(GAA):c.834G>A (p.Leu278=)
|
rs776314424
|
0.00001
|
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
|
rs772607616
|
0.00001
|
NM_000152.5(GAA):c.858+14C>T
|
rs746986703
|
0.00001
|
NM_000152.5(GAA):c.876C>T (p.Tyr292=)
|
rs763216519
|
0.00001
|
NC_000017.10:g.(?_78075324)_(78093682_?)dup
|
|
|
NM_000152.5(GAA):c.-32-13T>C
|
rs386834236
|
|
NM_000152.5(GAA):c.-32-4G>A
|
rs760925777
|
|
NM_000152.5(GAA):c.1000G>T (p.Gly334Cys)
|
rs886042960
|
|
NM_000152.5(GAA):c.1087A>G (p.Met363Val)
|
rs2039148780
|
|
NM_000152.5(GAA):c.108G>C (p.Leu36=)
|
rs1369758261
|
|
NM_000152.5(GAA):c.1092G>A (p.Pro364=)
|
rs777730774
|
|
NM_000152.5(GAA):c.1095A>C (p.Pro365=)
|
rs1555600060
|
|
NM_000152.5(GAA):c.1209C>T (p.Asn403=)
|
rs751333479
|
|
NM_000152.5(GAA):c.1239C>G (p.Asp413Glu)
|
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
NM_000152.5(GAA):c.1375G>C (p.Asp459His)
|
rs535644999
|
|
NM_000152.5(GAA):c.1437+20G>A
|
rs768737799
|
|
NM_000152.5(GAA):c.1461C>G (p.Phe487Leu)
|
|
|
NM_000152.5(GAA):c.1536C>T (p.Phe512=)
|
rs143491365
|
|
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe)
|
rs576056187
|
|
NM_000152.5(GAA):c.1724A>T (p.Tyr575Phe)
|
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
NM_000152.5(GAA):c.1952G>T (p.Gly651Val)
|
rs939350425
|
|
NM_000152.5(GAA):c.1976T>C (p.Val659Ala)
|
|
|
NM_000152.5(GAA):c.2012T>A (p.Met671Lys)
|
|
|
NM_000152.5(GAA):c.2040+19_2040+20inv
|
|
|
NM_000152.5(GAA):c.2041-17C>A
|
rs746028622
|
|
NM_000152.5(GAA):c.2051C>A (p.Pro684Gln)
|
rs147327209
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000152.5(GAA):c.2100C>T (p.Thr700=)
|
rs199571088
|
|
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
|
rs398123172
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
|
rs1292367136
|
|
NM_000152.5(GAA):c.2430C>T (p.Pro810=)
|
rs554839058
|
|
NM_000152.5(GAA):c.2481+4C>G
|
|
|
NM_000152.5(GAA):c.2526C>G (p.Ala842=)
|
rs886038259
|
|
NM_000152.5(GAA):c.2647-6G>A
|
rs201525743
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
NM_000152.5(GAA):c.297C>G (p.Thr99=)
|
rs771846178
|
|
NM_000152.5(GAA):c.623T>C (p.Leu208Pro)
|
rs2039071572
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
NM_000152.5(GAA):c.693G>T (p.Leu231=)
|
|
|
NM_000152.5(GAA):c.710C>A (p.Ala237Glu)
|
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
NM_000152.5(GAA):c.858+17_858+23del
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+6GCGGCGG[3]
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT
|
rs1555599729
|
|
NM_000152.5(GAA):c.860C>T (p.Pro287Leu)
|
rs1289916206
|
|