NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys)
|
rs144857480
|
0.00024
|
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg)
|
rs138183791
|
0.00024
|
NM_000152.5(GAA):c.1310G>A (p.Arg437His)
|
rs150868652
|
0.00023
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
0.00019
|
NM_000152.5(GAA):c.913G>A (p.Gly305Arg)
|
rs200154987
|
0.00019
|
NM_000152.5(GAA):c.1320G>T (p.Met440Ile)
|
rs550837627
|
0.00017
|
NM_000152.5(GAA):c.1888+5G>T
|
rs528282884
|
0.00014
|
NM_000152.5(GAA):c.546+3G>A
|
rs371405931
|
0.00013
|
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys)
|
rs375433002
|
0.00012
|
NM_000152.5(GAA):c.362A>G (p.Gln121Arg)
|
rs150284874
|
0.00012
|
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln)
|
rs140376273
|
0.00011
|
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg)
|
rs550065979
|
0.00010
|
NM_000152.5(GAA):c.2122C>T (p.His708Tyr)
|
rs149916476
|
0.00010
|
NM_000152.5(GAA):c.725C>A (p.Ala242Glu)
|
rs745861849
|
0.00010
|
NM_000152.5(GAA):c.76C>T (p.Leu26Phe)
|
rs149761650
|
0.00010
|
NM_000152.5(GAA):c.851C>G (p.Ala284Gly)
|
rs147569830
|
0.00010
|
NM_000152.5(GAA):c.1630G>A (p.Val544Met)
|
rs567695610
|
0.00009
|
NM_000152.5(GAA):c.546+6C>T
|
rs375727055
|
0.00009
|
NM_000152.5(GAA):c.682G>A (p.Gly228Ser)
|
rs747150907
|
0.00009
|
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)
|
rs372786811
|
0.00007
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
NM_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
0.00007
|
NM_000152.5(GAA):c.857C>T (p.Thr286Met)
|
rs375310352
|
0.00007
|
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu)
|
rs756126944
|
0.00006
|
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser)
|
rs940955642
|
0.00006
|
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)
|
rs200202628
|
0.00006
|
NM_000152.5(GAA):c.359C>G (p.Ala120Gly)
|
rs779208773
|
0.00006
|
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
|
rs560661191
|
0.00006
|
NM_000152.5(GAA):c.43G>A (p.Val15Ile)
|
rs772157487
|
0.00006
|
NM_000152.5(GAA):c.55G>A (p.Val19Met)
|
rs200343198
|
0.00006
|
NM_000152.5(GAA):c.862G>A (p.Gly288Ser)
|
rs200125735
|
0.00006
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
NM_000152.5(GAA):c.1639G>A (p.Val547Met)
|
rs751102729
|
0.00005
|
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr)
|
rs367632754
|
0.00005
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
0.00005
|
NM_000152.5(GAA):c.2510G>A (p.Arg837His)
|
rs746095374
|
0.00005
|
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn)
|
rs372604133
|
0.00005
|
NM_000152.5(GAA):c.2672G>A (p.Arg891His)
|
rs199524847
|
0.00005
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
NM_000152.5(GAA):c.1198G>A (p.Val400Ile)
|
rs758334520
|
0.00004
|
NM_000152.5(GAA):c.11G>A (p.Arg4Lys)
|
rs372147077
|
0.00004
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00004
|
NM_000152.5(GAA):c.196C>T (p.Arg66Trp)
|
rs371971763
|
0.00004
|
NM_000152.5(GAA):c.2330C>T (p.Thr777Met)
|
rs746779016
|
0.00004
|
NM_000152.5(GAA):c.2331G>A (p.Thr777=)
|
rs375311693
|
0.00004
|
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu)
|
rs773498009
|
0.00004
|
NM_000152.5(GAA):c.502C>T (p.Arg168Trp)
|
rs777473001
|
0.00004
|
NM_000152.5(GAA):c.643G>A (p.Glu215Lys)
|
rs201286896
|
0.00004
|
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys)
|
rs767821988
|
0.00003
|
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp)
|
rs776704385
|
0.00003
|
NM_000152.5(GAA):c.1417G>A (p.Gly473Ser)
|
rs201409613
|
0.00003
|
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala)
|
rs886043976
|
0.00003
|
NM_000152.5(GAA):c.1661C>T (p.Ala554Val)
|
rs772260861
|
0.00003
|
NM_000152.5(GAA):c.17C>T (p.Pro6Leu)
|
rs771409180
|
0.00003
|
NM_000152.5(GAA):c.1849G>A (p.Val617Met)
|
rs767977395
|
0.00003
|
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
|
rs763301606
|
0.00003
|
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)
|
rs752735168
|
0.00003
|
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu)
|
rs532624326
|
0.00003
|
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala)
|
rs201485261
|
0.00003
|
NM_000152.5(GAA):c.2656G>A (p.Val886Met)
|
rs372802420
|
0.00003
|
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser)
|
rs375021198
|
0.00003
|
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe)
|
rs769312350
|
0.00003
|
NM_000152.5(GAA):c.292A>T (p.Ile98Phe)
|
rs745963730
|
0.00003
|
NM_000152.5(GAA):c.319G>A (p.Gly107Ser)
|
rs151323405
|
0.00003
|
NM_000152.5(GAA):c.31C>T (p.Arg11Trp)
|
rs772394815
|
0.00003
|
NM_000152.5(GAA):c.426C>A (p.Ser142Arg)
|
rs762255493
|
0.00003
|
NM_000152.5(GAA):c.686G>A (p.Arg229His)
|
rs776509432
|
0.00003
|
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys)
|
rs200509552
|
0.00003
|
NM_000152.5(GAA):c.1147A>G (p.Ile383Val)
|
rs794727837
|
0.00002
|
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys)
|
rs749186162
|
0.00002
|
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln)
|
rs748788550
|
0.00002
|
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys)
|
rs771213237
|
0.00002
|
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp)
|
rs199748889
|
0.00002
|
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln)
|
rs886053545
|
0.00002
|
NM_000152.5(GAA):c.1437+6G>A
|
rs754249803
|
0.00002
|
NM_000152.5(GAA):c.1544T>C (p.Met515Thr)
|
rs1338245575
|
0.00002
|
NM_000152.5(GAA):c.1936G>A (p.Val646Ile)
|
rs770029932
|
0.00002
|
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser)
|
rs774307734
|
0.00002
|
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg)
|
rs148412962
|
0.00002
|
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser)
|
rs1365945556
|
0.00002
|
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser)
|
rs745378120
|
0.00002
|
NM_000152.5(GAA):c.2597A>T (p.Glu866Val)
|
rs951742543
|
0.00002
|
NM_000152.5(GAA):c.280C>A (p.Pro94Thr)
|
rs749496973
|
0.00002
|
NM_000152.5(GAA):c.370C>G (p.Gln124Glu)
|
rs1291571294
|
0.00002
|
NM_000152.5(GAA):c.412C>G (p.Leu138Val)
|
rs761221259
|
0.00002
|
NM_000152.5(GAA):c.446C>T (p.Thr149Met)
|
rs750628023
|
0.00002
|
NM_000152.5(GAA):c.614C>T (p.Pro205Leu)
|
rs775065551
|
0.00002
|
NM_000152.5(GAA):c.685C>T (p.Arg229Cys)
|
rs375295347
|
0.00002
|
NM_000152.5(GAA):c.859C>T (p.Pro287Ser)
|
rs369735511
|
0.00002
|
NM_000152.5(GAA):c.866C>T (p.Ala289Val)
|
rs145903608
|
0.00002
|
NM_000152.5(GAA):c.899C>T (p.Ala300Val)
|
rs1032949450
|
0.00002
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000152.5(GAA):c.979G>A (p.Ala327Thr)
|
rs756562462
|
0.00002
|
NM_000152.5(GAA):c.-32-3C>T
|
rs1055945806
|
0.00001
|
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr)
|
rs1334402365
|
0.00001
|
NM_000152.5(GAA):c.1059G>C (p.Gln353His)
|
rs376146090
|
0.00001
|
NM_000152.5(GAA):c.1075+4G>A
|
rs754290055
|
0.00001
|
NM_000152.5(GAA):c.1076-3C>T
|
rs1220435321
|
0.00001
|
NM_000152.5(GAA):c.109C>G (p.Leu37Val)
|
rs369775994
|
0.00001
|
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
|
rs963719602
|
0.00001
|
NM_000152.5(GAA):c.1171A>G (p.Met391Val)
|
rs778634337
|
0.00001
|
NM_000152.5(GAA):c.1184A>T (p.His395Leu)
|
rs775121651
|
0.00001
|
NM_000152.5(GAA):c.1195-8G>A
|
rs1194778188
|
0.00001
|
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe)
|
rs777431563
|
0.00001
|
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp)
|
rs772730706
|
0.00001
|
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu)
|
rs765235868
|
0.00001
|
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg)
|
rs201463496
|
0.00001
|
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp)
|
rs777372252
|
0.00001
|
NM_000152.5(GAA):c.1319T>C (p.Met440Thr)
|
rs768847441
|
0.00001
|
NM_000152.5(GAA):c.1324G>A (p.Val442Met)
|
rs377559348
|
0.00001
|
NM_000152.5(GAA):c.1326+20G>A
|
rs774138443
|
0.00001
|
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn)
|
rs2039191738
|
0.00001
|
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile)
|
rs768500880
|
0.00001
|
NM_000152.5(GAA):c.1438G>A (p.Val480Ile)
|
rs769574574
|
0.00001
|
NM_000152.5(GAA):c.1514A>C (p.Glu505Ala)
|
rs1418481698
|
0.00001
|
NM_000152.5(GAA):c.151G>A (p.Glu51Lys)
|
rs2039030436
|
0.00001
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser)
|
rs368568190
|
0.00001
|
NM_000152.5(GAA):c.1643T>C (p.Val548Ala)
|
rs754686630
|
0.00001
|
NM_000152.5(GAA):c.1660G>C (p.Ala554Pro)
|
rs1283351706
|
0.00001
|
NM_000152.5(GAA):c.1669A>G (p.Ile557Val)
|
rs747150965
|
0.00001
|
NM_000152.5(GAA):c.1755-3C>T
|
rs748327755
|
0.00001
|
NM_000152.5(GAA):c.1757C>T (p.Ala586Val)
|
rs770021831
|
0.00001
|
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp)
|
rs770983413
|
0.00001
|
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln)
|
rs528010457
|
0.00001
|
NM_000152.5(GAA):c.1774G>A (p.Gly592Arg)
|
rs1387345310
|
0.00001
|
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro)
|
rs2039267331
|
0.00001
|
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala)
|
rs1235035841
|
0.00001
|
NM_000152.5(GAA):c.1886C>T (p.Pro629Leu)
|
rs746961289
|
0.00001
|
NM_000152.5(GAA):c.1889-7C>G
|
rs765713320
|
0.00001
|
NM_000152.5(GAA):c.1989G>T (p.Gln663His)
|
rs1189531783
|
0.00001
|
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser)
|
rs916566117
|
0.00001
|
NM_000152.5(GAA):c.2005C>A (p.Pro669Thr)
|
rs752507985
|
0.00001
|
NM_000152.5(GAA):c.2012T>C (p.Met671Thr)
|
rs398123170
|
0.00001
|
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser)
|
rs776486462
|
0.00001
|
NM_000152.5(GAA):c.206A>G (p.Gln69Arg)
|
rs767191385
|
0.00001
|
NM_000152.5(GAA):c.2078A>G (p.Gln693Arg)
|
rs779338215
|
0.00001
|
NM_000152.5(GAA):c.2137T>C (p.Phe713Leu)
|
rs755618776
|
0.00001
|
NM_000152.5(GAA):c.214C>A (p.Pro72Thr)
|
rs923068950
|
0.00001
|
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe)
|
rs1290010789
|
0.00001
|
NM_000152.5(GAA):c.217G>A (p.Gly73Ser)
|
rs760644219
|
0.00001
|
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu)
|
rs1232306443
|
0.00001
|
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg)
|
rs763612880
|
0.00001
|
NM_000152.5(GAA):c.2218G>T (p.Val740Leu)
|
rs752122499
|
0.00001
|
NM_000152.5(GAA):c.221G>A (p.Arg74His)
|
rs764797280
|
0.00001
|
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn)
|
rs755272974
|
0.00001
|
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys)
|
rs760063214
|
0.00001
|
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys)
|
rs201980859
|
0.00001
|
NM_000152.5(GAA):c.2459C>T (p.Ala820Val)
|
rs786204304
|
0.00001
|
NM_000152.5(GAA):c.247G>A (p.Asp83Asn)
|
rs771101156
|
0.00001
|
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys)
|
rs752421149
|
0.00001
|
NM_000152.5(GAA):c.2521A>G (p.Met841Val)
|
rs1184116513
|
0.00001
|
NM_000152.5(GAA):c.2536G>A (p.Ala846Thr)
|
rs1464282302
|
0.00001
|
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp)
|
rs1445358978
|
0.00001
|
NM_000152.5(GAA):c.260A>G (p.Asn87Ser)
|
rs117530672
|
0.00001
|
NM_000152.5(GAA):c.2651C>T (p.Thr884Met)
|
rs759144318
|
0.00001
|
NM_000152.5(GAA):c.2735C>T (p.Ala912Val)
|
rs778874712
|
0.00001
|
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
|
rs1343332597
|
0.00001
|
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln)
|
rs1034101189
|
0.00001
|
NM_000152.5(GAA):c.2845G>A (p.Val949Ile)
|
rs183458422
|
0.00001
|
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
|
rs1245412108
|
0.00001
|
NM_000152.5(GAA):c.286A>G (p.Lys96Glu)
|
rs778816809
|
0.00001
|
NM_000152.5(GAA):c.298C>A (p.Gln100Lys)
|
rs780027584
|
0.00001
|
NM_000152.5(GAA):c.314C>T (p.Ala105Val)
|
rs761409404
|
0.00001
|
NM_000152.5(GAA):c.328T>C (p.Tyr110His)
|
rs761311330
|
0.00001
|
NM_000152.5(GAA):c.347G>T (p.Gly116Val)
|
rs754285414
|
0.00001
|
NM_000152.5(GAA):c.364A>G (p.Met122Val)
|
rs2039040448
|
0.00001
|
NM_000152.5(GAA):c.395G>C (p.Ser132Thr)
|
rs772908626
|
0.00001
|
NM_000152.5(GAA):c.425G>A (p.Ser142Asn)
|
rs754195673
|
0.00001
|
NM_000152.5(GAA):c.435A>T (p.Glu145Asp)
|
rs765586839
|
0.00001
|
NM_000152.5(GAA):c.461G>A (p.Arg154His)
|
rs781124934
|
0.00001
|
NM_000152.5(GAA):c.472A>G (p.Thr158Ala)
|
rs1598570556
|
0.00001
|
NM_000152.5(GAA):c.488A>T (p.Asp163Val)
|
rs755903462
|
0.00001
|
NM_000152.5(GAA):c.49G>A (p.Ala17Thr)
|
rs751425831
|
0.00001
|
NM_000152.5(GAA):c.503G>T (p.Arg168Leu)
|
rs376685205
|
0.00001
|
NM_000152.5(GAA):c.511G>A (p.Val171Met)
|
rs886053543
|
0.00001
|
NM_000152.5(GAA):c.514A>G (p.Met172Val)
|
rs1307823755
|
0.00001
|
NM_000152.5(GAA):c.530A>C (p.Asn177Thr)
|
rs936395356
|
0.00001
|
NM_000152.5(GAA):c.532C>T (p.Arg178Cys)
|
rs762439362
|
0.00001
|
NM_000152.5(GAA):c.539A>G (p.His180Arg)
|
rs773474041
|
0.00001
|
NM_000152.5(GAA):c.549C>G (p.Ile183Met)
|
rs778132082
|
0.00001
|
NM_000152.5(GAA):c.560C>G (p.Ala187Gly)
|
rs749876645
|
0.00001
|
NM_000152.5(GAA):c.574G>A (p.Glu192Lys)
|
rs1407372901
|
0.00001
|
NM_000152.5(GAA):c.576G>C (p.Glu192Asp)
|
rs760655446
|
0.00001
|
NM_000152.5(GAA):c.607C>T (p.Arg203Trp)
|
rs751286274
|
0.00001
|
NM_000152.5(GAA):c.608G>A (p.Arg203Gln)
|
rs754446365
|
0.00001
|
NM_000152.5(GAA):c.625T>C (p.Tyr209His)
|
rs930808379
|
0.00001
|
NM_000152.5(GAA):c.631G>A (p.Val211Met)
|
rs760995790
|
0.00001
|
NM_000152.5(GAA):c.634G>A (p.Glu212Lys)
|
rs768596085
|
0.00001
|
NM_000152.5(GAA):c.683G>A (p.Gly228Asp)
|
rs1470881018
|
0.00001
|
NM_000152.5(GAA):c.704C>T (p.Thr235Met)
|
rs752950890
|
0.00001
|
NM_000152.5(GAA):c.706G>T (p.Val236Leu)
|
rs777964427
|
0.00001
|
NM_000152.5(GAA):c.70G>A (p.Ala24Thr)
|
rs139716763
|
0.00001
|
NM_000152.5(GAA):c.723T>G (p.Phe241Leu)
|
rs1160112655
|
0.00001
|
NM_000152.5(GAA):c.745T>C (p.Ser249Pro)
|
rs1386718298
|
0.00001
|
NM_000152.5(GAA):c.74C>T (p.Ala25Val)
|
rs768867363
|
0.00001
|
NM_000152.5(GAA):c.758C>G (p.Pro253Arg)
|
rs1169157671
|
0.00001
|
NM_000152.5(GAA):c.764A>G (p.Gln255Arg)
|
rs1405975877
|
0.00001
|
NM_000152.5(GAA):c.795T>A (p.Ser265Arg)
|
rs779785396
|
0.00001
|
NM_000152.5(GAA):c.804G>A (p.Met268Ile)
|
rs1185610552
|
0.00001
|
NM_000152.5(GAA):c.863G>A (p.Gly288Asp)
|
rs769074720
|
0.00001
|
NM_000152.5(GAA):c.910G>A (p.Gly304Ser)
|
rs140301384
|
0.00001
|
NM_000152.5(GAA):c.955+5G>C
|
rs759508507
|
0.00001
|
NM_000152.5(GAA):c.969G>T (p.Gln323His)
|
rs1266693289
|
0.00001
|
NM_000152.5(GAA):c.995C>T (p.Ser332Leu)
|
rs757608620
|
0.00001
|
NC_000017.10:g.(?_78078341)_(78093140_?)dup
|
|
|
NC_000017.10:g.(?_78078341)_(78093150_?)dup
|
|
|
NC_000017.10:g.(?_78090757)_(78093140_?)dup
|
|
|
NM_000152.5(GAA):c.-32-13T>C
|
rs386834236
|
|
NM_000152.5(GAA):c.-32-3del
|
|
|
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)
|
rs886042960
|
|
NM_000152.5(GAA):c.1007T>C (p.Ile336Thr)
|
|
|
NM_000152.5(GAA):c.1033C>T (p.Pro345Ser)
|
|
|
NM_000152.5(GAA):c.1036G>C (p.Glu346Gln)
|
|
|
NM_000152.5(GAA):c.1039C>T (p.Pro347Ser)
|
rs2039144354
|
|
NM_000152.5(GAA):c.1049T>C (p.Val350Ala)
|
rs2039144934
|
|
NM_000152.5(GAA):c.1054C>A (p.Gln352Lys)
|
|
|
NM_000152.5(GAA):c.1069G>A (p.Val357Ile)
|
rs754449703
|
|
NM_000152.5(GAA):c.1069G>T (p.Val357Phe)
|
rs754449703
|
|
NM_000152.5(GAA):c.1075+5G>A
|
|
|
NM_000152.5(GAA):c.1076-11T>C
|
|
|
NM_000152.5(GAA):c.1090C>T (p.Pro364Ser)
|
|
|
NM_000152.5(GAA):c.1091C>T (p.Pro364Leu)
|
|
|
NM_000152.5(GAA):c.1097A>C (p.Tyr366Ser)
|
rs2143854757
|
|
NM_000152.5(GAA):c.1103G>T (p.Gly368Val)
|
rs368244038
|
|
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)
|
rs2039149745
|
|
NM_000152.5(GAA):c.1118T>G (p.Leu373Arg)
|
rs2039150286
|
|
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys)
|
rs752002666
|
|
NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn)
|
|
|
NM_000152.5(GAA):c.1135TCC[1] (p.Ser380del)
|
|
|
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr)
|
rs377233099
|
|
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe)
|
rs377233099
|
|
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr)
|
rs1193750279
|
|
NM_000152.5(GAA):c.1158G>T (p.Gln386His)
|
rs1400466814
|
|
NM_000152.5(GAA):c.115C>A (p.Pro39Thr)
|
rs759236536
|
|
NM_000152.5(GAA):c.1160T>C (p.Val387Ala)
|
|
|
NM_000152.5(GAA):c.1160TGG[1] (p.Val388del)
|
|
|
NM_000152.5(GAA):c.1172T>A (p.Met391Lys)
|
|
|
NM_000152.5(GAA):c.1173G>A (p.Met391Ile)
|
rs2143855905
|
|
NM_000152.5(GAA):c.1178G>C (p.Arg393Thr)
|
|
|
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr)
|
rs190889375
|
|
NM_000152.5(GAA):c.1184A>G (p.His395Arg)
|
rs775121651
|
|
NM_000152.5(GAA):c.118C>G (p.Arg40Gly)
|
rs767409395
|
|
NM_000152.5(GAA):c.1192C>A (p.Leu398Met)
|
rs369707231
|
|
NM_000152.5(GAA):c.1194+3G>T
|
rs368539333
|
|
NM_000152.5(GAA):c.1194+6T>C
|
rs1470004759
|
|
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro)
|
rs2039157992
|
|
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro)
|
rs372799904
|
|
NM_000152.5(GAA):c.1234_1236dup (p.Arg412dup)
|
rs2143857460
|
|
NM_000152.5(GAA):c.1240T>C (p.Phe414Leu)
|
rs886042630
|
|
NM_000152.5(GAA):c.1246T>G (p.Phe416Val)
|
|
|
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg)
|
rs2039159106
|
|
NM_000152.5(GAA):c.1254G>A (p.Lys418=)
|
rs769131433
|
|
NM_000152.5(GAA):c.1256A>G (p.Asp419Gly)
|
rs1397577545
|
|
NM_000152.5(GAA):c.1267G>A (p.Asp423Asn)
|
|
|
NM_000152.5(GAA):c.1273C>A (p.Pro425Thr)
|
rs1283810246
|
|
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser)
|
rs1283810246
|
|
NM_000152.5(GAA):c.1276G>A (p.Ala426Thr)
|
rs2143857881
|
|
NM_000152.5(GAA):c.1303G>A (p.Gly435Ser)
|
|
|
NM_000152.5(GAA):c.1315A>G (p.Met439Val)
|
|
|
NM_000152.5(GAA):c.1317G>A (p.Met439Ile)
|
rs991245388
|
|
NM_000152.5(GAA):c.1320G>A (p.Met440Ile)
|
|
|
NM_000152.5(GAA):c.1326+6T>C
|
rs1199225255
|
|
NM_000152.5(GAA):c.1326G>A (p.Val442=)
|
|
|
NM_000152.5(GAA):c.1327-7T>G
|
rs774490566
|
|
NM_000152.5(GAA):c.133T>G (p.Ser45Ala)
|
rs1322709296
|
|
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile)
|
rs145712232
|
|
NM_000152.5(GAA):c.1345T>G (p.Ser449Ala)
|
|
|
NM_000152.5(GAA):c.134C>T (p.Ser45Phe)
|
rs1179395024
|
|
NM_000152.5(GAA):c.1358G>A (p.Gly453Glu)
|
rs2039191662
|
|
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu)
|
rs2039191855
|
|
NM_000152.5(GAA):c.1372T>C (p.Tyr458His)
|
rs1567832012
|
|
NM_000152.5(GAA):c.1375G>T (p.Asp459Tyr)
|
rs535644999
|
|
NM_000152.5(GAA):c.1380G>C (p.Glu460Asp)
|
|
|
NM_000152.5(GAA):c.1382G>A (p.Gly461Asp)
|
rs1277491722
|
|
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp)
|
rs2039193001
|
|
NM_000152.5(GAA):c.1392_1393delinsTT (p.Arg464_Gly465delinsSerTrp)
|
|
|
NM_000152.5(GAA):c.1393G>C (p.Gly465Arg)
|
|
|
NM_000152.5(GAA):c.1393G>T (p.Gly465Trp)
|
|
|
NM_000152.5(GAA):c.1396G>C (p.Val466Leu)
|
rs375006053
|
|
NM_000152.5(GAA):c.1402A>C (p.Ile468Leu)
|
rs886043148
|
|
NM_000152.5(GAA):c.1409A>G (p.Asn470Ser)
|
|
|
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
|
rs886043068
|
|
NM_000152.5(GAA):c.1424C>T (p.Pro475Leu)
|
|
|
NM_000152.5(GAA):c.1426C>A (p.Leu476Met)
|
rs756613882
|
|
NM_000152.5(GAA):c.1431T>G (p.Ile477Met)
|
rs1598580369
|
|
NM_000152.5(GAA):c.1438-10C>G
|
rs1029231930
|
|
NM_000152.5(GAA):c.1438-7_1438-5del
|
rs764583466
|
|
NM_000152.5(GAA):c.1439T>A (p.Val480Glu)
|
|
|
NM_000152.5(GAA):c.1439T>C (p.Val480Ala)
|
rs1224298513
|
|
NM_000152.5(GAA):c.1454C>T (p.Thr485Ile)
|
rs2143872073
|
|
NM_000152.5(GAA):c.1456G>A (p.Ala486Thr)
|
rs1283045273
|
|
NM_000152.5(GAA):c.1457C>T (p.Ala486Val)
|
rs2039213698
|
|
NM_000152.5(GAA):c.1468T>C (p.Phe490Leu)
|
rs2143872278
|
|
NM_000152.5(GAA):c.1469T>G (p.Phe490Cys)
|
|
|
NM_000152.5(GAA):c.1472_1474del (p.Thr491del)
|
|
|
NM_000152.5(GAA):c.1484C>T (p.Ala495Val)
|
|
|
NM_000152.5(GAA):c.148G>A (p.Glu50Lys)
|
rs1555598609
|
|
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys)
|
rs1473805095
|
|
NM_000152.5(GAA):c.1502A>G (p.Asp501Gly)
|
rs2143872652
|
|
NM_000152.5(GAA):c.1508T>C (p.Val503Ala)
|
|
|
NM_000152.5(GAA):c.1518C>G (p.Phe506Leu)
|
rs1464913441
|
|
NM_000152.5(GAA):c.1532C>T (p.Pro511Leu)
|
|
|
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu)
|
rs143491365
|
|
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)
|
rs777571608
|
|
NM_000152.5(GAA):c.1546T>C (p.Trp516Arg)
|
|
|
NM_000152.5(GAA):c.1551+4A>C
|
|
|
NM_000152.5(GAA):c.1551+6T>C
|
|
|
NM_000152.5(GAA):c.1552-14_1552-1del
|
rs1567833173
|
|
NM_000152.5(GAA):c.1552-3C>T
|
rs375470378
|
|
NM_000152.5(GAA):c.1553_1555dup (p.Asp518_Met519insAsn)
|
rs2039221468
|
|
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser)
|
rs1555600852
|
|
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys)
|
rs2039222579
|
|
NM_000152.5(GAA):c.1572C>G (p.Asn524Lys)
|
rs1417304813
|
|
NM_000152.5(GAA):c.1576A>G (p.Ile526Val)
|
rs2039222806
|
|
NM_000152.5(GAA):c.1579A>G (p.Arg527Gly)
|
|
|
NM_000152.5(GAA):c.1580G>A (p.Arg527Lys)
|
|
|
NM_000152.5(GAA):c.1594G>C (p.Gly532Arg)
|
|
|
NM_000152.5(GAA):c.1594G>T (p.Gly532Cys)
|
rs773576381
|
|
NM_000152.5(GAA):c.159C>A (p.His53Gln)
|
|
|
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg)
|
rs1039935633
|
|
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu)
|
rs1039935633
|
|
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys)
|
rs1351247900
|
|
NM_000152.5(GAA):c.1606A>G (p.Asn536Asp)
|
rs2039224225
|
|
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys)
|
rs2039224372
|
|
NM_000152.5(GAA):c.1611G>T (p.Glu537Asp)
|
|
|
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser)
|
rs2039224662
|
|
NM_000152.5(GAA):c.161C>T (p.Pro54Leu)
|
rs768898668
|
|
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu)
|
rs1598582130
|
|
NM_000152.5(GAA):c.1628A>G (p.Tyr543Cys)
|
rs1160583761
|
|
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met)
|
rs1598582152
|
|
NM_000152.5(GAA):c.1631T>A (p.Val544Glu)
|
rs1567833361
|
|
NM_000152.5(GAA):c.1635T>A (p.Pro545=)
|
|
|
NM_000152.5(GAA):c.1637-10_1637-9delinsGA
|
rs2143882002
|
|
NM_000152.5(GAA):c.1637-12_1637-9del
|
|
|
NM_000152.5(GAA):c.1638_1639delinsCA (p.Val547Met)
|
|
|
NM_000152.5(GAA):c.1642G>T (p.Val548Phe)
|
rs1567834141
|
|
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala)
|
rs2039246325
|
|
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg)
|
rs746401921
|
|
NM_000152.5(GAA):c.166C>A (p.His56Asn)
|
|
|
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe)
|
rs576056187
|
|
NM_000152.5(GAA):c.167A>T (p.His56Leu)
|
rs113740017
|
|
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu)
|
rs886043997
|
|
NM_000152.5(GAA):c.1693C>T (p.Leu565Phe)
|
|
|
NM_000152.5(GAA):c.1699A>C (p.Thr567Pro)
|
rs543222774
|
|
NM_000152.5(GAA):c.16C>T (p.Pro6Ser)
|
rs1424116613
|
|
NM_000152.5(GAA):c.1711C>G (p.Leu571Val)
|
|
|
NM_000152.5(GAA):c.1715A>C (p.His572Pro)
|
rs1424756308
|
|
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys)
|
rs1175728529
|
|
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp)
|
rs1555601255
|
|
NM_000152.5(GAA):c.1739C>T (p.Ala580Val)
|
rs909561836
|
|
NM_000152.5(GAA):c.1741A>G (p.Ile581Val)
|
rs559258217
|
|
NM_000152.5(GAA):c.1743C>G (p.Ile581Met)
|
rs527970795
|
|
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr)
|
rs369098202
|
|
NM_000152.5(GAA):c.1744G>C (p.Ala582Pro)
|
|
|
NM_000152.5(GAA):c.1750C>A (p.His584Asn)
|
rs780475756
|
|
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp)
|
rs1555601273
|
|
NM_000152.5(GAA):c.1754+6G>C
|
rs1282791373
|
|
NM_000152.5(GAA):c.1762G>A (p.Val588Met)
|
rs370138790
|
|
NM_000152.5(GAA):c.1794C>G (p.Ile598Met)
|
rs2039262568
|
|
NM_000152.5(GAA):c.17C>A (p.Pro6Gln)
|
rs771409180
|
|
NM_000152.5(GAA):c.1805C>T (p.Thr602Ile)
|
|
|
NM_000152.5(GAA):c.1817A>C (p.His606Pro)
|
rs1311698018
|
|
NM_000152.5(GAA):c.1822C>G (p.Arg608Gly)
|
|
|
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu)
|
rs377126280
|
|
NM_000152.5(GAA):c.1825T>C (p.Tyr609His)
|
|
|
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe)
|
rs2039264297
|
|
NM_000152.5(GAA):c.1837T>C (p.Trp613Arg)
|
|
|
NM_000152.5(GAA):c.1867C>G (p.Gln623Glu)
|
rs2143889579
|
|
NM_000152.5(GAA):c.1869G>T (p.Gln623His)
|
|
|
NM_000152.5(GAA):c.1870C>T (p.Leu624Phe)
|
rs764377962
|
|
NM_000152.5(GAA):c.1873G>A (p.Ala625Thr)
|
|
|
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser)
|
rs757445420
|
|
NM_000152.5(GAA):c.1876T>C (p.Ser626Pro)
|
rs1235035841
|
|
NM_000152.5(GAA):c.1880C>G (p.Ser627Cys)
|
|
|
NM_000152.5(GAA):c.1882G>A (p.Val628Met)
|
rs745911962
|
|
NM_000152.5(GAA):c.1882G>C (p.Val628Leu)
|
|
|
NM_000152.5(GAA):c.1885C>T (p.Pro629Ser)
|
|
|
NM_000152.5(GAA):c.1888+5G>C
|
|
|
NM_000152.5(GAA):c.1888+6_1888+14del
|
rs2039268703
|
|
NM_000152.5(GAA):c.1895T>C (p.Leu632Pro)
|
|
|
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro)
|
rs2039274878
|
|
NM_000152.5(GAA):c.1919C>T (p.Pro640Leu)
|
|
|
NM_000152.5(GAA):c.1926C>A (p.Val642=)
|
rs1346499760
|
|
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu)
|
rs770248553
|
|
NM_000152.5(GAA):c.1948C>A (p.Leu650Met)
|
rs1359573192
|
|
NM_000152.5(GAA):c.194C>A (p.Pro65His)
|
rs1482530928
|
|
NM_000152.5(GAA):c.194C>T (p.Pro65Leu)
|
|
|
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp)
|
rs939350425
|
|
NM_000152.5(GAA):c.1964A>G (p.Glu655Gly)
|
rs1269689890
|
|
NM_000152.5(GAA):c.1968G>C (p.Glu656Asp)
|
|
|
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly)
|
rs2039278476
|
|
NM_000152.5(GAA):c.1975G>C (p.Val659Leu)
|
rs2143892513
|
|
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile)
|
rs2039278795
|
|
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr)
|
rs916566117
|
|
NM_000152.5(GAA):c.2005C>G (p.Pro669Ala)
|
|
|
NM_000152.5(GAA):c.2018A>C (p.Asn673Thr)
|
rs1598585837
|
|
NM_000152.5(GAA):c.2035A>G (p.Ser679Gly)
|
rs1567835990
|
|
NM_000152.5(GAA):c.2040+19_2040+20inv
|
|
|
NM_000152.5(GAA):c.2040+4G>C
|
rs1598585909
|
|
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser)
|
rs2039286160
|
|
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg)
|
rs1484576607
|
|
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys)
|
rs1598586309
|
|
NM_000152.5(GAA):c.205C>G (p.Gln69Glu)
|
rs370174315
|
|
NM_000152.5(GAA):c.2064C>A (p.Ser688Arg)
|
|
|
NM_000152.5(GAA):c.2077C>A (p.Gln693Lys)
|
rs2039287681
|
|
NM_000152.5(GAA):c.2084T>C (p.Met695Thr)
|
rs2143895805
|
|
NM_000152.5(GAA):c.2093C>T (p.Ala698Val)
|
rs1001458871
|
|
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile)
|
rs2039288481
|
|
NM_000152.5(GAA):c.209C>A (p.Ala70Glu)
|
rs775376321
|
|
NM_000152.5(GAA):c.2101C>G (p.Leu701Val)
|
|
|
NM_000152.5(GAA):c.2108A>G (p.Tyr703Cys)
|
|
|
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr)
|
rs375681364
|
|
NM_000152.5(GAA):c.2110G>C (p.Ala704Pro)
|
rs375681364
|
|
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser)
|
rs375681364
|
|
NM_000152.5(GAA):c.2120C>T (p.Pro707Leu)
|
rs139009731
|
|
NM_000152.5(GAA):c.2122C>A (p.His708Asn)
|
rs149916476
|
|
NM_000152.5(GAA):c.2122C>G (p.His708Asp)
|
rs149916476
|
|
NM_000152.5(GAA):c.2124C>G (p.His708Gln)
|
rs751187069
|
|
NM_000152.5(GAA):c.212A>G (p.His71Arg)
|
rs760205477
|
|
NM_000152.5(GAA):c.2132_2133inv (p.Thr711Met)
|
|
|
NM_000152.5(GAA):c.2140C>T (p.His714Tyr)
|
rs1332887976
|
|
NM_000152.5(GAA):c.2152G>C (p.Val718Leu)
|
|
|
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr)
|
rs143324027
|
|
NM_000152.5(GAA):c.2156C>T (p.Ala719Val)
|
rs146762316
|
|
NM_000152.5(GAA):c.2170G>A (p.Ala724Thr)
|
rs1393059819
|
|
NM_000152.5(GAA):c.217G>T (p.Gly73Cys)
|
rs760644219
|
|
NM_000152.5(GAA):c.2189+3G>C
|
rs2143897458
|
|
NM_000152.5(GAA):c.2190-10C>A
|
rs1567838707
|
|
NM_000152.5(GAA):c.2203T>A (p.Ser735Thr)
|
rs1377188867
|
|
NM_000152.5(GAA):c.2204C>G (p.Ser735Cys)
|
|
|
NM_000152.5(GAA):c.2204C>T (p.Ser735Phe)
|
|
|
NM_000152.5(GAA):c.2210C>T (p.Thr737Ile)
|
|
|
NM_000152.5(GAA):c.2215A>G (p.Thr739Ala)
|
rs578245757
|
|
NM_000152.5(GAA):c.2218G>A (p.Val740Met)
|
rs752122499
|
|
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu)
|
rs767773929
|
|
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe)
|
rs1347832021
|
|
NM_000152.5(GAA):c.2239G>T (p.Gly747Trp)
|
rs778981088
|
|
NM_000152.5(GAA):c.223C>T (p.Pro75Ser)
|
rs755561471
|
|
NM_000152.5(GAA):c.2242G>A (p.Glu748Lys)
|
rs1057516363
|
|
NM_000152.5(GAA):c.2266C>T (p.Leu756Phe)
|
|
|
NM_000152.5(GAA):c.2270A>G (p.Gln757Arg)
|
rs768165130
|
|
NM_000152.5(GAA):c.2280G>T (p.Lys760Asn)
|
rs2143919634
|
|
NM_000152.5(GAA):c.2294G>T (p.Gly765Val)
|
rs1292367136
|
|
NM_000152.5(GAA):c.229G>T (p.Ala77Ser)
|
rs781365881
|
|
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser)
|
rs2039369551
|
|
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe)
|
rs372800172
|
|
NM_000152.5(GAA):c.2327A>G (p.Gln776Arg)
|
|
|
NM_000152.5(GAA):c.2330_2331+4dup
|
rs762245732
|
|
NM_000152.5(GAA):c.2331+4A>C
|
rs2039371081
|
|
NM_000152.5(GAA):c.2331+6T>G
|
|
|
NM_000152.5(GAA):c.2338G>C (p.Val780Leu)
|
rs1126690
|
|
NM_000152.5(GAA):c.2341G>A (p.Glu781Lys)
|
|
|
NM_000152.5(GAA):c.2345C>T (p.Ala782Val)
|
rs994916972
|
|
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe)
|
rs762310752
|
|
NM_000152.5(GAA):c.2354G>T (p.Ser785Ile)
|
|
|
NM_000152.5(GAA):c.2359C>A (p.Pro787Thr)
|
|
|
NM_000152.5(GAA):c.235C>T (p.Pro79Ser)
|
rs756342288
|
|
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)
|
rs2039384789
|
|
NM_000152.5(GAA):c.2362C>T (p.Pro788Ser)
|
|
|
NM_000152.5(GAA):c.2363C>A (p.Pro788His)
|
|
|
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln)
|
rs773629231
|
|
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser)
|
rs776111131
|
|
NM_000152.5(GAA):c.2380C>T (p.Arg794Cys)
|
|
|
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro)
|
rs200505871
|
|
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr)
|
rs539031621
|
|
NM_000152.5(GAA):c.2405G>A (p.Gly802Glu)
|
|
|
NM_000152.5(GAA):c.2410T>C (p.Trp804Arg)
|
rs2143925115
|
|
NM_000152.5(GAA):c.2416A>C (p.Thr806Pro)
|
|
|
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser)
|
rs774470696
|
|
NM_000152.5(GAA):c.2431C>G (p.Leu811Val)
|
|
|
NM_000152.5(GAA):c.2444A>C (p.Asn815Thr)
|
rs1365945556
|
|
NM_000152.5(GAA):c.244T>C (p.Cys82Arg)
|
rs1252748852
|
|
NM_000152.5(GAA):c.2453T>C (p.Leu818Pro)
|
|
|
NM_000152.5(GAA):c.2459_2461del (p.Ala820del)
|
rs1182634884
|
|
NM_000152.5(GAA):c.2463G>C (p.Gly821=)
|
|
|
NM_000152.5(GAA):c.2467A>G (p.Ile823Val)
|
|
|
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe)
|
rs758038288
|
|
NM_000152.5(GAA):c.2474C>T (p.Pro825Leu)
|
rs886042703
|
|
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg)
|
rs1555602967
|
|
NM_000152.5(GAA):c.2481+4C>G
|
|
|
NM_000152.5(GAA):c.2481+5C>G
|
rs1598592432
|
|
NM_000152.5(GAA):c.2481+6T>C
|
rs1479232207
|
|
NM_000152.5(GAA):c.2486C>G (p.Pro829Arg)
|
rs778187006
|
|
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg)
|
rs1598593166
|
|
NM_000152.5(GAA):c.2489G>C (p.Gly830Ala)
|
|
|
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile)
|
rs1555603057
|
|
NM_000152.5(GAA):c.2498C>T (p.Thr833Ile)
|
|
|
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp)
|
rs771259598
|
|
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys)
|
rs920085419
|
|
NM_000152.5(GAA):c.2518C>G (p.Pro840Ala)
|
rs930247743
|
|
NM_000152.5(GAA):c.2522T>C (p.Met841Thr)
|
rs758016479
|
|
NM_000152.5(GAA):c.2523G>C (p.Met841Ile)
|
rs1555603087
|
|
NM_000152.5(GAA):c.2525C>T (p.Ala842Val)
|
rs2143929732
|
|
NM_000152.5(GAA):c.2527C>G (p.Leu843Val)
|
rs2143929760
|
|
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro)
|
rs775524898
|
|
NM_000152.5(GAA):c.2540T>G (p.Leu847Arg)
|
rs1555603096
|
|
NM_000152.5(GAA):c.2552G>A (p.Gly851Glu)
|
rs764943318
|
|
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly)
|
rs2039404008
|
|
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys)
|
rs1039438307
|
|
NM_000152.5(GAA):c.2581G>C (p.Asp861His)
|
|
|
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala)
|
rs951742543
|
|
NM_000152.5(GAA):c.259A>C (p.Asn87His)
|
|
|
NM_000152.5(GAA):c.261C>G (p.Asn87Lys)
|
rs1052555748
|
|
NM_000152.5(GAA):c.2637G>A (p.Leu879=)
|
rs2039406388
|
|
NM_000152.5(GAA):c.2645A>G (p.Asn882Ser)
|
|
|
NM_000152.5(GAA):c.2646+3G>A
|
|
|
NM_000152.5(GAA):c.2646+4A>C
|
|
|
NM_000152.5(GAA):c.2646+4A>G
|
|
|
NM_000152.5(GAA):c.264C>G (p.Ser88Arg)
|
|
|
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro)
|
rs199524847
|
|
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu)
|
rs199524847
|
|
NM_000152.5(GAA):c.2678C>T (p.Thr893Ile)
|
|
|
NM_000152.5(GAA):c.2684A>G (p.Glu895Gly)
|
|
|
NM_000152.5(GAA):c.268T>A (p.Phe90Ile)
|
rs755402236
|
|
NM_000152.5(GAA):c.2696T>G (p.Leu899Arg)
|
|
|
NM_000152.5(GAA):c.26C>T (p.Ser9Phe)
|
rs1598568879
|
|
NM_000152.5(GAA):c.2705A>G (p.Gln902Arg)
|
|
|
NM_000152.5(GAA):c.2714C>G (p.Thr905Ser)
|
|
|
NM_000152.5(GAA):c.271G>T (p.Asp91Tyr)
|
rs1800299
|
|
NM_000152.5(GAA):c.2722G>A (p.Gly908Ser)
|
|
|
NM_000152.5(GAA):c.2722G>T (p.Gly908Cys)
|
rs2039415739
|
|
NM_000152.5(GAA):c.2723G>T (p.Gly908Val)
|
rs2143933949
|
|
NM_000152.5(GAA):c.2729C>T (p.Ala910Val)
|
|
|
NM_000152.5(GAA):c.2732C>T (p.Thr911Met)
|
rs1027032995
|
|
NM_000152.5(GAA):c.2741A>C (p.Gln914Pro)
|
|
|
NM_000152.5(GAA):c.2745G>C (p.Gln915His)
|
rs2143934282
|
|
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe)
|
rs773667152
|
|
NM_000152.5(GAA):c.2758G>T (p.Gly920Cys)
|
|
|
NM_000152.5(GAA):c.2759G>A (p.Gly920Asp)
|
|
|
NM_000152.5(GAA):c.2761G>T (p.Val921Phe)
|
rs1555603286
|
|
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu)
|
rs1555603301
|
|
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr)
|
rs1598594483
|
|
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn)
|
rs756199247
|
|
NM_000152.5(GAA):c.2798A>G (p.Lys933Arg)
|
|
|
NM_000152.5(GAA):c.2799+2C>T
|
rs1555603318
|
|
NM_000152.5(GAA):c.2799+4A>T
|
|
|
NM_000152.5(GAA):c.2800-1G>A
|
|
|
NM_000152.5(GAA):c.2829G>A (p.Met943Ile)
|
rs2039430526
|
|
NM_000152.5(GAA):c.2855G>T (p.Cys952Phe)
|
|
|
NM_000152.5(GAA):c.2857T>C (p.Ter953Gln)
|
|
|
NM_000152.5(GAA):c.289G>A (p.Ala97Thr)
|
rs2143827017
|
|
NM_000152.5(GAA):c.298C>G (p.Gln100Glu)
|
|
|
NM_000152.5(GAA):c.29A>T (p.His10Leu)
|
|
|
NM_000152.5(GAA):c.310G>A (p.Glu104Lys)
|
rs201902338
|
|
NM_000152.5(GAA):c.310G>C (p.Glu104Gln)
|
rs201902338
|
|
NM_000152.5(GAA):c.311_313del (p.Glu104del)
|
rs2039038181
|
|
NM_000152.5(GAA):c.318_323dup (p.Gly107_Cys108dup)
|
rs2143827403
|
|
NM_000152.5(GAA):c.31C>G (p.Arg11Gly)
|
rs772394815
|
|
NM_000152.5(GAA):c.32G>T (p.Arg11Leu)
|
rs138812846
|
|
NM_000152.5(GAA):c.341A>G (p.Lys114Arg)
|
|
|
NM_000152.5(GAA):c.347G>A (p.Gly116Glu)
|
rs754285414
|
|
NM_000152.5(GAA):c.347G>C (p.Gly116Ala)
|
rs754285414
|
|
NM_000152.5(GAA):c.355G>A (p.Gly119Arg)
|
rs1555598802
|
|
NM_000152.5(GAA):c.368G>T (p.Gly123Val)
|
rs138034915
|
|
NM_000152.5(GAA):c.383T>C (p.Phe128Ser)
|
rs2039041547
|
|
NM_000152.5(GAA):c.396C>G (p.Ser132Arg)
|
rs2143828304
|
|
NM_000152.5(GAA):c.407A>G (p.Tyr136Cys)
|
|
|
NM_000152.5(GAA):c.415G>A (p.Glu139Lys)
|
|
|
NM_000152.5(GAA):c.419A>T (p.Asn140Ile)
|
|
|
NM_000152.5(GAA):c.41C>T (p.Ala14Val)
|
rs1221096819
|
|
NM_000152.5(GAA):c.427T>G (p.Ser143Ala)
|
rs1423110429
|
|
NM_000152.5(GAA):c.433G>A (p.Glu145Lys)
|
rs2143828679
|
|
NM_000152.5(GAA):c.446C>A (p.Thr149Lys)
|
|
|
NM_000152.5(GAA):c.448G>A (p.Ala150Thr)
|
rs991177340
|
|
NM_000152.5(GAA):c.452C>T (p.Thr151Ile)
|
rs1567826289
|
|
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del)
|
rs1555598888
|
|
NM_000152.5(GAA):c.466A>T (p.Thr156Ser)
|
rs1598570529
|
|
NM_000152.5(GAA):c.467C>A (p.Thr156Asn)
|
rs1394741472
|
|
NM_000152.5(GAA):c.467C>T (p.Thr156Ile)
|
rs1394741472
|
|
NM_000152.5(GAA):c.482C>A (p.Pro161His)
|
|
|
NM_000152.5(GAA):c.485A>G (p.Lys162Arg)
|
|
|
NM_000152.5(GAA):c.487G>A (p.Asp163Asn)
|
rs1204103099
|
|
NM_000152.5(GAA):c.497C>T (p.Thr166Ile)
|
|
|
NM_000152.5(GAA):c.49G>T (p.Ala17Ser)
|
rs751425831
|
|
NM_000152.5(GAA):c.503G>C (p.Arg168Pro)
|
rs376685205
|
|
NM_000152.5(GAA):c.515T>C (p.Met172Thr)
|
|
|
NM_000152.5(GAA):c.52C>T (p.Leu18Phe)
|
|
|
NM_000152.5(GAA):c.545C>G (p.Thr182Arg)
|
rs200524747
|
|
NM_000152.5(GAA):c.545C>T (p.Thr182Met)
|
rs200524747
|
|
NM_000152.5(GAA):c.546+5G>A
|
|
|
NM_000152.5(GAA):c.547-5_547-4delinsGG
|
|
|
NM_000152.5(GAA):c.547A>G (p.Ile183Val)
|
|
|
NM_000152.5(GAA):c.54C>T (p.Leu18=)
|
rs886053542
|
|
NM_000152.5(GAA):c.557C>A (p.Pro186Gln)
|
|
|
NM_000152.5(GAA):c.566G>A (p.Arg189Lys)
|
rs1598571878
|
|
NM_000152.5(GAA):c.571T>G (p.Tyr191Asp)
|
rs149295512
|
|
NM_000152.5(GAA):c.572A>G (p.Tyr191Cys)
|
|
|
NM_000152.5(GAA):c.583T>G (p.Leu195Val)
|
rs1323831512
|
|
NM_000152.5(GAA):c.58T>A (p.Ser20Thr)
|
|
|
NM_000152.5(GAA):c.590C>A (p.Thr197Asn)
|
rs761890037
|
|
NM_000152.5(GAA):c.590C>T (p.Thr197Ile)
|
rs761890037
|
|
NM_000152.5(GAA):c.593C>A (p.Pro198Gln)
|
rs765075888
|
|
NM_000152.5(GAA):c.593C>T (p.Pro198Leu)
|
|
|
NM_000152.5(GAA):c.595_596inv (p.His199Cys)
|
|
|
NM_000152.5(GAA):c.596A>T (p.His199Leu)
|
|
|
NM_000152.5(GAA):c.598G>T (p.Val200Phe)
|
|
|
NM_000152.5(GAA):c.599T>A (p.Val200Asp)
|
|
|
NM_000152.5(GAA):c.59C>G (p.Ser20Cys)
|
rs752449306
|
|
NM_000152.5(GAA):c.5G>C (p.Gly2Ala)
|
rs1245992455
|
|
NM_000152.5(GAA):c.613C>G (p.Pro205Ala)
|
|
|
NM_000152.5(GAA):c.613C>T (p.Pro205Ser)
|
|
|
NM_000152.5(GAA):c.616T>C (p.Ser206Pro)
|
|
|
NM_000152.5(GAA):c.619C>T (p.Pro207Ser)
|
|
|
NM_000152.5(GAA):c.623T>C (p.Leu208Pro)
|
rs2039071572
|
|
NM_000152.5(GAA):c.626A>G (p.Tyr209Cys)
|
|
|
NM_000152.5(GAA):c.637T>C (p.Phe213Leu)
|
|
|
NM_000152.5(GAA):c.649C>T (p.Pro217Ser)
|
rs1567827215
|
|
NM_000152.5(GAA):c.663C>G (p.Ile221Met)
|
rs142878958
|
|
NM_000152.5(GAA):c.667C>T (p.Arg223Cys)
|
rs886043961
|
|
NM_000152.5(GAA):c.667_668delinsTA (p.Arg223Tyr)
|
rs2143834814
|
|
NM_000152.5(GAA):c.686G>C (p.Arg229Pro)
|
rs776509432
|
|
NM_000152.5(GAA):c.688G>C (p.Val230Leu)
|
rs145866792
|
|
NM_000152.5(GAA):c.68C>T (p.Thr23Ile)
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rs2039027538
|
|
NM_000152.5(GAA):c.693-5C>G
|
rs763538104
|
|
NM_000152.5(GAA):c.703A>G (p.Thr235Ala)
|
rs781731240
|
|
NM_000152.5(GAA):c.712C>T (p.Pro238Ser)
|
rs1294294268
|
|
NM_000152.5(GAA):c.716T>C (p.Leu239Pro)
|
rs2143845990
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
NM_000152.5(GAA):c.733T>G (p.Phe245Val)
|
|
|
NM_000152.5(GAA):c.737T>G (p.Leu246Arg)
|
rs1555599608
|
|
NM_000152.5(GAA):c.752C>G (p.Ser251Trp)
|
|
|
NM_000152.5(GAA):c.757C>T (p.Pro253Ser)
|
rs2143846362
|
|
NM_000152.5(GAA):c.769A>G (p.Ile257Val)
|
rs199674786
|
|
NM_000152.5(GAA):c.775G>A (p.Gly259Ser)
|
rs2143846660
|
|
NM_000152.5(GAA):c.77T>G (p.Leu26Arg)
|
rs1385098269
|
|
NM_000152.5(GAA):c.781G>C (p.Ala261Pro)
|
rs543360994
|
|
NM_000152.5(GAA):c.782C>T (p.Ala261Val)
|
rs2143846719
|
|
NM_000152.5(GAA):c.787C>T (p.His263Tyr)
|
rs1555599660
|
|
NM_000152.5(GAA):c.790C>T (p.Leu264Phe)
|
|
|
NM_000152.5(GAA):c.794G>A (p.Ser265Asn)
|
rs772002851
|
|
NM_000152.5(GAA):c.809G>A (p.Ser270Asn)
|
rs1429834723
|
|
NM_000152.5(GAA):c.816C>G (p.Ser272Arg)
|
|
|
NM_000152.5(GAA):c.821C>T (p.Thr274Ile)
|
|
|
NM_000152.5(GAA):c.830C>T (p.Thr277Ile)
|
rs1598575278
|
|
NM_000152.5(GAA):c.840_842dup (p.Arg281dup)
|
rs2039123030
|
|
NM_000152.5(GAA):c.851C>A (p.Ala284Glu)
|
|
|
NM_000152.5(GAA):c.851C>T (p.Ala284Val)
|
rs147569830
|
|
NM_000152.5(GAA):c.858+4C>G
|
rs886042706
|
|
NM_000152.5(GAA):c.858+5A>G
|
rs2039124887
|
|
NM_000152.5(GAA):c.859-10C>T
|
rs2143848802
|
|
NM_000152.5(GAA):c.859-3C>T
|
rs1356743231
|
|
NM_000152.5(GAA):c.859-8T>G
|
rs2143848824
|
|
NM_000152.5(GAA):c.866C>A (p.Ala289Glu)
|
|
|
NM_000152.5(GAA):c.883C>A (p.His295Asn)
|
rs751639773
|
|
NM_000152.5(GAA):c.883C>T (p.His295Tyr)
|
rs751639773
|
|
NM_000152.5(GAA):c.899C>A (p.Ala300Glu)
|
rs1032949450
|
|
NM_000152.5(GAA):c.8T>C (p.Val3Ala)
|
rs1037603957
|
|
NM_000152.5(GAA):c.924C>A (p.His308Gln)
|
rs370105640
|
|
NM_000152.5(GAA):c.928G>A (p.Val310Met)
|
|
|
NM_000152.5(GAA):c.928G>T (p.Val310Leu)
|
rs941586376
|
|
NM_000152.5(GAA):c.93_95del (p.Leu32del)
|
rs1278892703
|
|
NM_000152.5(GAA):c.954G>A (p.Met318Ile)
|
rs2143850104
|
|
NM_000152.5(GAA):c.955+5G>A
|
rs759508507
|
|
NM_000152.5(GAA):c.955G>A (p.Asp319Asn)
|
rs1359009455
|
|
NM_000152.5(GAA):c.956-3C>T
|
rs1421879461
|
|
NM_000152.5(GAA):c.956-8C>A
|
rs369149976
|
|
NM_000152.5(GAA):c.956A>G (p.Asp319Gly)
|
|
|
NM_000152.5(GAA):c.958_959delinsAG (p.Val320Arg)
|
|
|
NM_000152.5(GAA):c.960G>A (p.Val320=)
|
rs2143852588
|
|
NM_000152.5(GAA):c.961G>A (p.Val321Ile)
|
rs895612400
|
|
NM_000152.5(GAA):c.961G>T (p.Val321Phe)
|
|
|
NM_000152.5(GAA):c.971C>G (p.Pro324Arg)
|
|
|
NM_000152.5(GAA):c.974G>A (p.Ser325Asn)
|
rs905633601
|
|
NM_000152.5(GAA):c.976C>T (p.Pro326Ser)
|
rs2039142344
|
|
NM_000152.5(GAA):c.982C>T (p.Leu328Phe)
|
rs1555599956
|
|
NM_000152.5(GAA):c.98A>G (p.His33Arg)
|
rs773479616
|
|