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.165-18A>G
|
rs374105190
|
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_001128227.3(GNE):c.51+17T>G
|
rs144416128
|
0.00014
|
NM_005476.7(GNE):c.804G>A (p.Lys268=)
|
rs141814943
|
0.00013
|
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)
|
rs62541771
|
0.00011
|
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.1293T>A (p.Val431=)
|
rs143485388
|
0.00007
|
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.1234G>A (p.Val412Ile)
|
rs369714039
|
0.00004
|
NM_005476.7(GNE):c.1429C>T (p.Arg477Cys)
|
rs551854437
|
0.00004
|
NM_005476.7(GNE):c.1908G>A (p.Ala636=)
|
rs200812140
|
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.765C>T (p.Asp255=)
|
rs775805166
|
0.00004
|
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.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00003
|
NM_005476.7(GNE):c.2029C>T (p.His677Tyr)
|
rs527267621
|
0.00002
|
NM_005476.7(GNE):c.302G>A (p.Arg101His)
|
rs144727134
|
0.00002
|
NM_005476.7(GNE):c.604C>T (p.Arg202Cys)
|
rs756309840
|
0.00002
|
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.2135T>C (p.Met712Thr)
|
rs28937594
|
0.00001
|
NM_005476.7(GNE):c.485G>A (p.Arg162His)
|
rs747640708
|
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
|
NC_000009.12:g.36277073CT[2]
|
rs534444344
|
|
NM_005476.7(GNE):c.*277ATA[1]
|
rs140089561
|
|
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.1071-175C>A
|
rs144485929
|
|
NM_005476.7(GNE):c.1233C>T (p.Ala411=)
|
rs1057523203
|
|
NM_005476.7(GNE):c.1281+27T>C
|
rs115052162
|
|
NM_005476.7(GNE):c.1281+50dup
|
rs150174400
|
|
NM_005476.7(GNE):c.1282-267dup
|
rs377239651
|
|
NM_005476.7(GNE):c.1282-281C>T
|
rs140478304
|
|
NM_005476.7(GNE):c.1500_1529delinsA (p.Arg501fs)
|
rs1554658924
|
|
NM_005476.7(GNE):c.1538G>T (p.Trp513Leu)
|
rs2133021459
|
|
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.1710TGT[1] (p.Val572del)
|
rs762796465
|
|
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter)
|
rs111302956
|
|
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)
|
rs387906347
|
|
NM_005476.7(GNE):c.1817-213del
|
rs556551893
|
|
NM_005476.7(GNE):c.1978A>G (p.Met660Val)
|
rs1554658048
|
|
NM_005476.7(GNE):c.2050C>T (p.Arg684Cys)
|
rs139347806
|
|
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.328C>G (p.His110Asp)
|
rs2133113061
|
|
NM_005476.7(GNE):c.476G>C (p.Cys159Ser)
|
|
|
NM_005476.7(GNE):c.694del (p.Met232fs)
|
rs1554661549
|
|
NM_005476.7(GNE):c.711G>C (p.Leu237Phe)
|
rs724159957
|
|
NM_005476.7(GNE):c.724T>A (p.Ser242Thr)
|
|
|
NM_005476.7(GNE):c.982+253del
|
rs34150061
|
|