NM_005476.7(GNE):c.1933+162G>C
|
rs615108
|
0.80967
|
NM_001128227.3(GNE):c.51+34T>C
|
rs7875447
|
0.75717
|
NM_005476.7(GNE):c.*2391C>T
|
rs1043313
|
0.71766
|
NM_005476.7(GNE):c.165-115A>G
|
rs7861442
|
0.50498
|
NM_005476.7(GNE):c.1282-302G>A
|
rs28576111
|
0.48653
|
NM_005476.7(GNE):c.1934-201C>T
|
rs616009
|
0.42970
|
NM_005476.7(GNE):c.1282-155C>T
|
rs10758350
|
0.30335
|
NM_001128227.3(GNE):c.52-9153G>A
|
rs35078360
|
0.17375
|
NM_005476.7(GNE):c.*1781G>A
|
rs16933086
|
0.17302
|
NM_005476.7(GNE):c.1817-81G>C
|
rs2296817
|
0.15990
|
NM_005476.7(GNE):c.982+247T>G
|
rs202137023
|
0.11498
|
NM_005476.7(GNE):c.1633+125G>C
|
rs10972795
|
0.09219
|
NM_005476.7(GNE):c.1634-117A>G
|
rs2296818
|
0.09084
|
NM_005476.7(GNE):c.616+269T>C
|
rs7871216
|
0.08144
|
NM_005476.7(GNE):c.1633+237C>T
|
rs11793464
|
0.08058
|
NM_005476.7(GNE):c.-42-248C>T
|
rs185612372
|
0.06896
|
NM_001128227.2(GNE):c.-230G>A
|
rs72624019
|
0.06001
|
NM_005476.7(GNE):c.983-273G>A
|
rs77468060
|
0.04525
|
NM_005476.7(GNE):c.1281+44G>A
|
rs16933102
|
0.03050
|
NM_005476.7(GNE):c.617-298T>C
|
rs16933114
|
0.02964
|
NM_005476.7(GNE):c.600C>T (p.Ile200=)
|
rs7047950
|
0.02902
|
NM_005476.7(GNE):c.-42-217A>G
|
rs143457494
|
0.02236
|
NM_005476.7(GNE):c.1633+118T>C
|
rs2772222
|
0.01972
|
NM_005476.7(GNE):c.1770C>T (p.Tyr590=)
|
rs111302956
|
0.01688
|
NC_000009.12:g.36277317G>A
|
rs115179729
|
0.01507
|
NM_005476.7(GNE):c.165-78G>A
|
rs79668204
|
0.01481
|
NM_005476.7(GNE):c.*74G>A
|
rs16933089
|
0.01338
|
NM_005476.7(GNE):c.1633+341G>T
|
rs867242865
|
0.01209
|
NM_005476.7(GNE):c.617-260A>C
|
rs16933112
|
0.01086
|
NM_005476.7(GNE):c.164+214A>G
|
rs116002444
|
0.00998
|
NM_001128227.2(GNE):c.-193C>T
|
rs117403207
|
0.00948
|
NM_005476.7(GNE):c.1933+168A>G
|
rs192421511
|
0.00940
|
NM_005476.7(GNE):c.770-115A>G
|
rs143985783
|
0.00900
|
NM_001128227.3(GNE):c.-10G>A
|
rs73449614
|
0.00894
|
NM_005476.7(GNE):c.165-195A>C
|
rs952800103
|
0.00715
|
NM_005476.7(GNE):c.-42-171A>G
|
rs182888437
|
0.00600
|
NM_005476.7(GNE):c.-42-141A>G
|
rs190263712
|
0.00597
|
NM_005476.7(GNE):c.1933+98del
|
rs371206506
|
0.00560
|
NM_001128227.3(GNE):c.51+294T>C
|
rs143985614
|
0.00552
|
NM_005476.7(GNE):c.165-211T>A
|
rs184718221
|
0.00455
|
NM_001128227.3(GNE):c.51+63A>G
|
rs185045598
|
0.00436
|
NM_005476.7(GNE):c.624T>G (p.Asp208Glu)
|
rs35224402
|
0.00389
|
NM_005476.7(GNE):c.1872G>A (p.Ala624=)
|
rs145361930
|
0.00126
|
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
|
rs35638832
|
0.00066
|
NM_005476.7(GNE):c.1245C>T (p.Gly415=)
|
rs140784655
|
0.00059
|
NM_005476.7(GNE):c.2004C>T (p.Ser668=)
|
rs150045137
|
0.00038
|
NM_005476.7(GNE):c.1509C>G (p.Pro503=)
|
rs141172610
|
0.00036
|
NM_005476.7(GNE):c.843C>T (p.His281=)
|
rs138694766
|
0.00023
|
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)
|
rs199877522
|
0.00021
|
NM_005476.7(GNE):c.1933+3G>A
|
rs370730412
|
0.00021
|
NM_005476.7(GNE):c.804G>A (p.Lys268=)
|
rs141814943
|
0.00013
|
NM_005476.7(GNE):c.1620T>C (p.Leu540=)
|
rs774849278
|
0.00012
|
NM_005476.7(GNE):c.1634-7G>A
|
rs139442869
|
0.00012
|
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)
|
rs62541771
|
0.00011
|
NM_001128227.3(GNE):c.-3G>A
|
rs368762704
|
0.00010
|
NM_005476.7(GNE):c.1412-4G>A
|
rs146067766
|
0.00009
|
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln)
|
rs138357804
|
0.00009
|
NM_005476.7(GNE):c.1412-5C>T
|
rs369078814
|
0.00008
|
NM_005476.7(GNE):c.165-9C>T
|
rs760509369
|
0.00008
|
NM_005476.7(GNE):c.1651A>G (p.Ile551Val)
|
rs754313408
|
0.00008
|
NM_005476.7(GNE):c.1070+5G>A
|
rs374170125
|
0.00006
|
NM_005476.7(GNE):c.1242T>C (p.Leu414=)
|
rs371881711
|
0.00006
|
NM_005476.7(GNE):c.1281+6A>T
|
rs201025841
|
0.00006
|
NM_005476.7(GNE):c.1871C>T (p.Ala624Val)
|
rs200278654
|
0.00006
|
NM_005476.7(GNE):c.23G>A (p.Arg8Gln)
|
rs763057654
|
0.00005
|
NM_001128227.3(GNE):c.-4C>T
|
rs769506627
|
0.00004
|
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
|
rs200763627
|
0.00004
|
NM_005476.7(GNE):c.1020A>G (p.Gln340=)
|
rs747807631
|
0.00004
|
NM_005476.7(GNE):c.1129A>G (p.Ile377Val)
|
rs776568062
|
0.00004
|
NM_005476.7(GNE):c.1234G>A (p.Val412Ile)
|
rs369714039
|
0.00004
|
NM_005476.7(GNE):c.1429C>T (p.Arg477Cys)
|
rs551854437
|
0.00004
|
NM_005476.7(GNE):c.1572G>A (p.Ala524=)
|
rs112824871
|
0.00004
|
NM_005476.7(GNE):c.1908G>A (p.Ala636=)
|
rs200812140
|
0.00004
|
NM_005476.7(GNE):c.305T>C (p.Leu102Pro)
|
rs760704097
|
0.00004
|
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)
|
rs369328625
|
0.00004
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
NM_005476.7(GNE):c.725C>T (p.Ser242Leu)
|
rs771167726
|
0.00004
|
NM_005476.7(GNE):c.726A>G (p.Ser242=)
|
rs763368889
|
0.00004
|
NM_001128227.3(GNE):c.43G>C (p.Gly15Arg)
|
rs762425552
|
0.00003
|
NM_005476.7(GNE):c.1070+7A>G
|
rs149675783
|
0.00003
|
NM_005476.7(GNE):c.1156A>C (p.Lys386Gln)
|
rs1180382282
|
0.00003
|
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)
|
rs745517517
|
0.00003
|
NM_005476.7(GNE):c.1816+4G>C
|
rs760700813
|
0.00003
|
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)
|
rs757523840
|
0.00003
|
NM_005476.7(GNE):c.1907C>T (p.Ala636Val)
|
rs756488394
|
0.00003
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)
|
rs121908630
|
0.00003
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00003
|
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)
|
rs1236647498
|
0.00003
|
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)
|
rs1057516374
|
0.00003
|
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp)
|
rs150132839
|
0.00002
|
NM_005476.7(GNE):c.1130del (p.Ile377fs)
|
rs982936794
|
0.00002
|
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg)
|
rs866841518
|
0.00002
|
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr)
|
rs769745306
|
0.00002
|
NM_005476.7(GNE):c.1408G>C (p.Val470Leu)
|
rs749320547
|
0.00002
|
NM_005476.7(GNE):c.1598G>A (p.Gly533Glu)
|
rs201808007
|
0.00002
|
NM_005476.7(GNE):c.1622T>C (p.Ile541Thr)
|
rs369119154
|
0.00002
|
NM_005476.7(GNE):c.1674C>T (p.His558=)
|
rs144931111
|
0.00002
|
NM_005476.7(GNE):c.1714G>C (p.Val572Leu)
|
rs121908632
|
0.00002
|
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)
|
rs748949603
|
0.00002
|
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)
|
rs776384541
|
0.00002
|
NM_005476.7(GNE):c.2029C>T (p.His677Tyr)
|
rs527267621
|
0.00002
|
NM_005476.7(GNE):c.207C>T (p.Asn69=)
|
rs781586600
|
0.00002
|
NM_005476.7(GNE):c.302G>A (p.Arg101His)
|
rs144727134
|
0.00002
|
NM_005476.7(GNE):c.32G>A (p.Arg11Gln)
|
rs1401082365
|
0.00002
|
NM_005476.7(GNE):c.604C>T (p.Arg202Cys)
|
rs756309840
|
0.00002
|
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)
|
rs762106720
|
0.00002
|
NM_001128227.3(GNE):c.15T>C (p.Gly5=)
|
rs192260997
|
0.00001
|
NM_001128227.3(GNE):c.78A>T (p.Lys26Asn)
|
rs767777879
|
0.00001
|
NM_001190388.1(GNE):c.34C>A (p.Pro12Thr)
|
rs1479837278
|
0.00001
|
NM_005476.7(GNE):c.103G>A (p.Glu35Lys)
|
rs758157078
|
0.00001
|
NM_005476.7(GNE):c.1081T>C (p.Tyr361His)
|
rs1192630467
|
0.00001
|
NM_005476.7(GNE):c.1117T>G (p.Phe373Val)
|
rs794727868
|
0.00001
|
NM_005476.7(GNE):c.1186A>C (p.Ile396Leu)
|
rs886042509
|
0.00001
|
NM_005476.7(GNE):c.1250C>T (p.Thr417Met)
|
rs1554659711
|
0.00001
|
NM_005476.7(GNE):c.1251G>A (p.Thr417=)
|
rs758086020
|
0.00001
|
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)
|
rs747199032
|
0.00001
|
NM_005476.7(GNE):c.1259G>A (p.Arg420Gln)
|
rs780092539
|
0.00001
|
NM_005476.7(GNE):c.1276A>C (p.Met426Leu)
|
rs750404513
|
0.00001
|
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser)
|
rs1057516798
|
0.00001
|
NM_005476.7(GNE):c.1531C>T (p.Pro511Ser)
|
rs966918577
|
0.00001
|
NM_005476.7(GNE):c.1638C>T (p.Ile546=)
|
rs147768211
|
0.00001
|
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys)
|
rs1306768272
|
0.00001
|
NM_005476.7(GNE):c.165-8G>A
|
rs918998080
|
0.00001
|
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)
|
rs762009737
|
0.00001
|
NM_005476.7(GNE):c.1742G>T (p.Cys581Phe)
|
rs756926638
|
0.00001
|
NM_005476.7(GNE):c.1771G>A (p.Ala591Thr)
|
rs752286512
|
0.00001
|
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)
|
rs372732220
|
0.00001
|
NM_005476.7(GNE):c.1812T>C (p.His604=)
|
rs541458680
|
0.00001
|
NM_005476.7(GNE):c.1933+8T>C
|
rs768321445
|
0.00001
|
NM_005476.7(GNE):c.2003C>T (p.Ser668Phe)
|
rs1258671706
|
0.00001
|
NM_005476.7(GNE):c.2023T>C (p.Tyr675His)
|
rs1191857860
|
0.00001
|
NM_005476.7(GNE):c.2070C>T (p.Ser690=)
|
rs776582567
|
0.00001
|
NM_005476.7(GNE):c.2071G>A (p.Val691Met)
|
rs763775540
|
0.00001
|
NM_005476.7(GNE):c.2079C>T (p.Asp693=)
|
rs548244588
|
0.00001
|
NM_005476.7(GNE):c.2113G>A (p.Ala705Thr)
|
rs201216576
|
0.00001
|
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)
|
rs28937594
|
0.00001
|
NM_005476.7(GNE):c.455A>C (p.Lys152Thr)
|
rs1157107103
|
0.00001
|
NM_005476.7(GNE):c.466T>C (p.Tyr156His)
|
rs794727505
|
0.00001
|
NM_005476.7(GNE):c.485G>A (p.Arg162His)
|
rs747640708
|
0.00001
|
NM_005476.7(GNE):c.722T>G (p.Ile241Ser)
|
rs759945787
|
0.00001
|
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)
|
rs773729410
|
0.00001
|
NM_005476.7(GNE):c.766G>A (p.Ala256Thr)
|
rs375740268
|
0.00001
|
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)
|
rs757091387
|
0.00001
|
GRCh37/hg19 9p13.3(chr9:36276891-36276941)x3
|
|
|
NC_000009.12:g.36277073CT[2]
|
rs534444344
|
|
NM_001128227.3(GNE):c.4G>A (p.Glu2Lys)
|
rs1403279875
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
NM_001128227.3(GNE):c.7del (p.Thr3fs)
|
rs1563966097
|
|
NM_005476.7(GNE):c.*277ATA[1]
|
rs140089561
|
|
NM_005476.7(GNE):c.-42-1G>T
|
|
|
NM_005476.7(GNE):c.1020A>C (p.Gln340His)
|
rs747807631
|
|
NM_005476.7(GNE):c.1023C>A (p.Asp341Glu)
|
|
|
NM_005476.7(GNE):c.1063T>C (p.Tyr355His)
|
rs886044389
|
|
NM_005476.7(GNE):c.1064A>C (p.Tyr355Ser)
|
|
|
NM_005476.7(GNE):c.1070+208dup
|
rs71336431
|
|
NM_005476.7(GNE):c.1070+226_1070+227del
|
rs71336431
|
|
NM_005476.7(GNE):c.1070+227del
|
rs71336431
|
|
NM_005476.7(GNE):c.1070+2dup
|
rs886043636
|
|
NM_005476.7(GNE):c.1071-175C>A
|
rs144485929
|
|
NM_005476.7(GNE):c.1071-4G>T
|
rs567349676
|
|
NM_005476.7(GNE):c.1085G>A (p.Gly362Glu)
|
rs755188930
|
|
NM_005476.7(GNE):c.1087G>A (p.Asp363Asn)
|
rs766459139
|
|
NM_005476.7(GNE):c.1126T>C (p.Ser376Pro)
|
rs1554659760
|
|
NM_005476.7(GNE):c.1132G>C (p.Asp378His)
|
rs199877522
|
|
NM_005476.7(GNE):c.1134T>A (p.Asp378Glu)
|
|
|
NM_005476.7(GNE):c.1153_1158del (p.Lys385_Lys386del)
|
rs1554659740
|
|
NM_005476.7(GNE):c.1158A>T (p.Lys386Asn)
|
rs1828920194
|
|
NM_005476.7(GNE):c.118G>A (p.Glu40Lys)
|
|
|
NM_005476.7(GNE):c.1204C>A (p.His402Asn)
|
|
|
NM_005476.7(GNE):c.1220dup (p.Ser408fs)
|
rs2133041569
|
|
NM_005476.7(GNE):c.1259G>C (p.Arg420Pro)
|
|
|
NM_005476.7(GNE):c.125A>C (p.Asp42Ala)
|
rs1587347675
|
|
NM_005476.7(GNE):c.1264G>A (p.Ala422Thr)
|
rs1828910974
|
|
NM_005476.7(GNE):c.1281+27T>C
|
rs115052162
|
|
NM_005476.7(GNE):c.1281+50dup
|
rs150174400
|
|
NM_005476.7(GNE):c.1281G>A (p.Lys427=)
|
rs1554659670
|
|
NM_005476.7(GNE):c.1282-267dup
|
rs377239651
|
|
NM_005476.7(GNE):c.1282-281C>T
|
rs140478304
|
|
NM_005476.7(GNE):c.1301A>G (p.Tyr434Cys)
|
rs1447770049
|
|
NM_005476.7(GNE):c.1302T>C (p.Tyr434=)
|
rs886044498
|
|
NM_005476.7(GNE):c.1352A>C (p.Gln451Pro)
|
|
|
NM_005476.7(GNE):c.1379C>T (p.Ala460Val)
|
rs121908631
|
|
NM_005476.7(GNE):c.1412G>A (p.Gly471Asp)
|
rs1439999698
|
|
NM_005476.7(GNE):c.1500_1529delinsA (p.Arg501fs)
|
rs1554658924
|
|
NM_005476.7(GNE):c.1510C>T (p.Leu504Phe)
|
rs748005215
|
|
NM_005476.7(GNE):c.1526A>C (p.His509Pro)
|
rs751302642
|
|
NM_005476.7(GNE):c.1538G>T (p.Trp513Leu)
|
rs2133021459
|
|
NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)
|
|
|
NM_005476.7(GNE):c.1541T>C (p.Val514Ala)
|
|
|
NM_005476.7(GNE):c.1546A>C (p.Asn516His)
|
rs1563930141
|
|
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser)
|
rs1554658910
|
|
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)
|
rs764698870
|
|
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys)
|
rs986773986
|
|
NM_005476.7(GNE):c.160T>A (p.Tyr54Asn)
|
|
|
NM_005476.7(GNE):c.1613T>C (p.Val538Ala)
|
|
|
NM_005476.7(GNE):c.1616C>T (p.Thr539Ile)
|
|
|
NM_005476.7(GNE):c.1633+66G>A
|
|
|
NM_005476.7(GNE):c.1633_1633+3del
|
rs1554658877
|
|
NM_005476.7(GNE):c.1634G>A (p.Gly545Glu)
|
|
|
NM_005476.7(GNE):c.164+1G>A
|
rs1554664043
|
|
NM_005476.7(GNE):c.165-179del
|
rs66781293
|
|
NM_005476.7(GNE):c.165-180_165-179del
|
rs66781293
|
|
NM_005476.7(GNE):c.165-181_165-179del
|
rs66781293
|
|
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr)
|
rs886043979
|
|
NM_005476.7(GNE):c.1686del (p.Cys563fs)
|
rs886044449
|
|
NM_005476.7(GNE):c.1703G>C (p.Gly568Ala)
|
rs1419793175
|
|
NM_005476.7(GNE):c.1703G>T (p.Gly568Val)
|
|
|
NM_005476.7(GNE):c.1710TGT[1] (p.Val572del)
|
rs762796465
|
|
NM_005476.7(GNE):c.1729C>A (p.Pro577Thr)
|
rs886044550
|
|
NM_005476.7(GNE):c.1730C>T (p.Pro577Leu)
|
rs1828512489
|
|
NM_005476.7(GNE):c.1740del (p.Cys581fs)
|
rs1554658453
|
|
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter)
|
rs111302956
|
|
NM_005476.7(GNE):c.1772C>T (p.Ala591Val)
|
|
|
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs)
|
rs1436850036
|
|
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)
|
rs387906347
|
|
NM_005476.7(GNE):c.1816+10C>T
|
rs1554658425
|
|
NM_005476.7(GNE):c.1816+2T>C
|
|
|
NM_005476.7(GNE):c.1817-213del
|
rs556551893
|
|
NM_005476.7(GNE):c.1821C>T (p.Asp607=)
|
|
|
NM_005476.7(GNE):c.182T>C (p.Ile61Thr)
|
|
|
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter)
|
rs886042195
|
|
NM_005476.7(GNE):c.1943C>T (p.Ala648Val)
|
|
|
NM_005476.7(GNE):c.1978A>G (p.Met660Val)
|
rs1554658048
|
|
NM_005476.7(GNE):c.1982A>G (p.Asn661Ser)
|
rs765173992
|
|
NM_005476.7(GNE):c.2021A>G (p.His674Arg)
|
rs1554658011
|
|
NM_005476.7(GNE):c.2043C>A (p.Asp681Glu)
|
rs568010488
|
|
NM_005476.7(GNE):c.2050C>T (p.Arg684Cys)
|
rs139347806
|
|
NM_005476.7(GNE):c.2063T>C (p.Leu688Ser)
|
|
|
NM_005476.7(GNE):c.2083G>T (p.Asp695Tyr)
|
rs2132992493
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)
|
rs121908627
|
|
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)
|
rs886044539
|
|
NM_005476.7(GNE):c.2120T>C (p.Leu707Pro)
|
rs886044099
|
|
NM_005476.7(GNE):c.221_222del (p.Thr74fs)
|
rs2133113896
|
|
NM_005476.7(GNE):c.233G>A (p.Gly78Glu)
|
rs886043490
|
|
NM_005476.7(GNE):c.234AGA[1] (p.Glu79del)
|
|
|
NM_005476.7(GNE):c.274C>A (p.Leu92Ile)
|
|
|
NM_005476.7(GNE):c.297T>G (p.Leu99=)
|
rs544304534
|
|
NM_005476.7(GNE):c.302G>C (p.Arg101Pro)
|
|
|
NM_005476.7(GNE):c.317T>C (p.Ile106Thr)
|
rs773920008
|
|
NM_005476.7(GNE):c.31C>T (p.Arg11Trp)
|
rs769716748
|
|
NM_005476.7(GNE):c.328C>G (p.His110Asp)
|
rs2133113061
|
|
NM_005476.7(GNE):c.329A>G (p.His110Arg)
|
rs886043739
|
|
NM_005476.7(GNE):c.377T>A (p.Met126Lys)
|
|
|
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)
|
rs372872777
|
|
NM_005476.7(GNE):c.38G>C (p.Cys13Ser)
|
rs1209266607
|
|
NM_005476.7(GNE):c.404G>T (p.Gly135Val)
|
|
|
NM_005476.7(GNE):c.429T>C (p.Asp143=)
|
rs1587339981
|
|
NM_005476.7(GNE):c.469C>T (p.His157Tyr)
|
|
|
NM_005476.7(GNE):c.470_471del (p.His157fs)
|
rs1554663368
|
|
NM_005476.7(GNE):c.476G>C (p.Cys159Ser)
|
|
|
NM_005476.7(GNE):c.481A>G (p.Thr161Ala)
|
rs1292723201
|
|
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)
|
rs769215411
|
|
NM_005476.7(GNE):c.487A>G (p.Ser163Gly)
|
rs752740158
|
|
NM_005476.7(GNE):c.490G>A (p.Ala164Thr)
|
|
|
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)
|
rs886044514
|
|
NM_005476.7(GNE):c.501C>T (p.His167=)
|
rs1554663342
|
|
NM_005476.7(GNE):c.557A>G (p.Tyr186Cys)
|
|
|
NM_005476.7(GNE):c.568C>T (p.Leu190Phe)
|
rs886042560
|
|
NM_005476.7(GNE):c.5A>G (p.Glu2Gly)
|
rs1830025657
|
|
NM_005476.7(GNE):c.601_604dup (p.Arg202fs)
|
rs886042120
|
|
NM_005476.7(GNE):c.616+1del
|
rs1554663295
|
|
NM_005476.7(GNE):c.616G>A (p.Gly206Ser)
|
rs766266918
|
|
NM_005476.7(GNE):c.616_616+3del
|
|
|
NM_005476.7(GNE):c.617-2A>G
|
rs1554661582
|
|
NM_005476.7(GNE):c.638A>T (p.Asp213Val)
|
rs1554661565
|
|
NM_005476.7(GNE):c.655C>T (p.Gln219Ter)
|
rs1057516906
|
|
NM_005476.7(GNE):c.688A>G (p.Ile230Val)
|
|
|
NM_005476.7(GNE):c.694del (p.Met232fs)
|
rs1554661549
|
|
NM_005476.7(GNE):c.695T>C (p.Met232Thr)
|
rs761468890
|
|
NM_005476.7(GNE):c.710T>C (p.Leu237Ser)
|
rs886043407
|
|
NM_005476.7(GNE):c.711G>C (p.Leu237Phe)
|
rs724159957
|
|
NM_005476.7(GNE):c.723_727del (p.Ile241_Ser242insTer)
|
rs2133078032
|
|
NM_005476.7(GNE):c.724T>A (p.Ser242Thr)
|
|
|
NM_005476.7(GNE):c.734A>C (p.Lys245Thr)
|
|
|
NM_005476.7(GNE):c.748C>A (p.Leu250Met)
|
rs886042585
|
|
NM_005476.7(GNE):c.769+3dup
|
rs756817842
|
|
NM_005476.7(GNE):c.783G>T (p.Met261Ile)
|
rs1554661095
|
|
NM_005476.7(GNE):c.787C>T (p.Arg263Ter)
|
rs200643106
|
|
NM_005476.7(GNE):c.81G>A (p.Pro27=)
|
rs768397785
|
|
NM_005476.7(GNE):c.829C>G (p.Arg277Gly)
|
rs762106720
|
|
NM_005476.7(GNE):c.831_833delinsATCCCAA (p.Ala278fs)
|
|
|
NM_005476.7(GNE):c.853G>C (p.Asp285His)
|
|
|
NM_005476.7(GNE):c.890T>C (p.Met297Thr)
|
rs778668749
|
|
NM_005476.7(GNE):c.917G>A (p.Arg306Gln)
|
rs1455785164
|
|
NM_005476.7(GNE):c.949A>G (p.Asn317Asp)
|
rs1554661042
|
|
NM_005476.7(GNE):c.952C>G (p.Leu318Val)
|
rs1554661032
|
|
NM_005476.7(GNE):c.961C>T (p.Arg321Cys)
|
rs1554661030
|
|
NM_005476.7(GNE):c.961del (p.Arg321fs)
|
rs1829284063
|
|
NM_005476.7(GNE):c.962G>A (p.Arg321His)
|
|
|
NM_005476.7(GNE):c.982+253del
|
rs34150061
|
|
NM_005476.7(GNE):c.982+3del
|
rs1587313110
|
|
NM_005476.7(GNE):c.982+8C>T
|
rs1563938239
|
|