NM_005120.3(MED12):c.5401-87T>C
|
rs12852829
|
0.55167
|
NM_005120.3(MED12):c.6409-125T>C
|
rs7056408
|
0.53788
|
NM_005120.3(MED12):c.5026-189G>C
|
rs4844284
|
0.53371
|
NM_005120.2(MED12):c.-206A>G
|
rs11796153
|
0.52390
|
NM_005120.3(MED12):c.1974+93G>C
|
rs59024650
|
0.38224
|
NM_005120.3(MED12):c.554-83A>G
|
rs4844282
|
0.37502
|
NM_005120.3(MED12):c.4120-85C>T
|
rs6525471
|
0.33736
|
NM_005120.3(MED12):c.6491-58G>A
|
rs36072155
|
0.25638
|
NM_005120.3(MED12):c.5026-249A>T
|
rs12839587
|
0.24594
|
NM_005120.3(MED12):c.5025+156_5025+157del
|
rs34862123
|
0.23287
|
NM_005120.3(MED12):c.4415+29T>C
|
rs10521349
|
0.23097
|
NM_005120.3(MED12):c.4415+128A>G
|
rs12843026
|
0.22805
|
NM_005120.3(MED12):c.3354+54G>A
|
rs5030618
|
0.22662
|
NM_005120.3(MED12):c.1744+51A>G
|
rs12841977
|
0.22385
|
NM_005120.3(MED12):c.205-38C>T
|
rs12850852
|
0.22082
|
NM_005120.3(MED12):c.2422+120T>G
|
rs73214869
|
0.22003
|
NM_005120.3(MED12):c.2056-63G>T
|
rs5030616
|
0.21236
|
NM_005120.3(MED12):c.6408+53C>T
|
rs7051453
|
0.15337
|
NM_005120.3(MED12):c.5401-25C>T
|
rs41298482
|
0.15124
|
NM_005120.3(MED12):c.3354+27G>C
|
rs5030617
|
0.15058
|
NM_005120.3(MED12):c.6409-114T>C
|
rs3895088
|
0.14604
|
NM_005120.3(MED12):c.1102-136G>A
|
rs4844283
|
0.13635
|
NM_005120.3(MED12):c.2422+30C>T
|
rs2075790
|
0.12776
|
NM_005120.3(MED12):c.4618-105C>A
|
rs200721936
|
0.06659
|
NM_005120.2(MED12):c.-487G>A
|
rs12840573
|
0.05151
|
NM_005120.3(MED12):c.4047+223A>G
|
rs73539609
|
0.04554
|
NM_005120.3(MED12):c.1102-21T>C
|
rs143664908
|
0.03128
|
NM_005120.3(MED12):c.204+58G>C
|
rs144436978
|
0.02926
|
NM_005120.3(MED12):c.4864-54C>T
|
rs12010687
|
0.02482
|
NM_005120.3(MED12):c.100-64A>G
|
rs73634861
|
0.01914
|
NM_005120.3(MED12):c.554-21C>A
|
rs150228870
|
0.01912
|
NM_005120.3(MED12):c.6045-24C>T
|
rs140083803
|
0.01192
|
NC_000023.11:g.71118452A>G
|
rs146126405
|
0.00760
|
NM_005120.3(MED12):c.553+218G>C
|
rs144363608
|
0.00754
|
NM_005120.3(MED12):c.5025+72T>C
|
rs73634863
|
0.00703
|
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser)
|
rs147354926
|
0.00685
|
NM_005120.3(MED12):c.4528-21T>C
|
rs73634862
|
0.00590
|
NM_005120.3(MED12):c.4119+175G>A
|
rs60344770
|
0.00583
|
NC_000023.11:g.71142461G>A
|
rs142511140
|
0.00382
|
NM_005120.3(MED12):c.6409-123C>G
|
rs181905790
|
0.00363
|
NM_005120.3(MED12):c.1248+15T>C
|
rs187377817
|
0.00307
|
NM_005120.3(MED12):c.384A>G (p.Gln128=)
|
rs201566660
|
0.00225
|
NM_005120.3(MED12):c.397-39G>A
|
rs147633472
|
0.00185
|
NM_005120.3(MED12):c.3867+42G>A
|
rs186731406
|
0.00184
|
NM_005120.3(MED12):c.4617+51G>A
|
rs180686238
|
0.00163
|
NM_005120.3(MED12):c.3699G>A (p.Ala1233=)
|
rs184162709
|
0.00133
|
NM_005120.3(MED12):c.5025+32C>T
|
rs199897402
|
0.00131
|
NM_005120.3(MED12):c.554-204C>T
|
rs756332661
|
0.00130
|
NM_005120.3(MED12):c.5748+16G>T
|
rs199760183
|
0.00122
|
NM_005120.3(MED12):c.5400+6C>T
|
rs192656109
|
0.00121
|
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)
|
rs200663107
|
0.00092
|
NM_005120.3(MED12):c.2423-51C>G
|
rs199675815
|
0.00088
|
NM_005120.3(MED12):c.4617+25A>G
|
rs760499470
|
0.00087
|
NM_005120.3(MED12):c.6045-50C>T
|
rs372061858
|
0.00073
|
NM_005120.3(MED12):c.4527+35G>A
|
rs188143570
|
0.00055
|
NM_005120.3(MED12):c.2850-27C>T
|
rs144560611
|
0.00050
|
NM_005120.3(MED12):c.2613G>A (p.Gln871=)
|
rs372344160
|
0.00047
|
NM_005120.3(MED12):c.3475+52C>T
|
rs146560693
|
0.00047
|
NM_005120.3(MED12):c.2423-38T>C
|
rs190258600
|
0.00046
|
NM_005120.3(MED12):c.3355-25G>C
|
rs376673975
|
0.00044
|
NM_005120.3(MED12):c.653C>T (p.Thr218Met)
|
rs369083173
|
0.00043
|
NM_005120.3(MED12):c.381G>A (p.Thr127=)
|
rs202125318
|
0.00039
|
NM_005120.3(MED12):c.4416-25C>A
|
rs989329760
|
0.00039
|
NM_005120.3(MED12):c.204+25G>T
|
rs377763948
|
0.00038
|
NM_005120.3(MED12):c.4254-28G>T
|
rs369399007
|
0.00038
|
NM_005120.3(MED12):c.4416-15T>C
|
rs770290521
|
0.00031
|
NM_005120.3(MED12):c.3867+22C>G
|
rs149395528
|
0.00027
|
NM_005120.3(MED12):c.2055+19G>A
|
rs373450304
|
0.00020
|
NM_005120.3(MED12):c.934G>C (p.Val312Leu)
|
rs377403264
|
0.00020
|
NM_005120.3(MED12):c.4665G>A (p.Thr1555=)
|
rs375001801
|
0.00019
|
NM_005120.3(MED12):c.708C>T (p.Thr236=)
|
rs34668206
|
0.00019
|
NM_005120.3(MED12):c.846+37G>A
|
rs762621629
|
0.00019
|
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)
|
rs587778437
|
0.00018
|
NM_005120.3(MED12):c.3209+45A>T
|
rs762212314
|
0.00017
|
NM_005120.3(MED12):c.6235A>G (p.Ile2079Val)
|
rs200820997
|
0.00017
|
NM_005120.3(MED12):c.4179A>C (p.Ser1393=)
|
rs376058351
|
0.00015
|
NM_005120.3(MED12):c.554-16T>A
|
rs760845015
|
0.00015
|
NM_005120.3(MED12):c.5827-33G>A
|
rs768113300
|
0.00014
|
NM_005120.3(MED12):c.2849+39C>T
|
rs746081067
|
0.00013
|
NM_005120.3(MED12):c.5805C>T (p.Ser1935=)
|
rs201608537
|
0.00013
|
NM_005120.3(MED12):c.3918C>T (p.Asp1306=)
|
rs372389957
|
0.00012
|
NM_005120.3(MED12):c.4488C>T (p.Arg1496=)
|
rs531754497
|
0.00012
|
NM_005120.3(MED12):c.3942T>C (p.Ser1314=)
|
rs3810670
|
0.00010
|
NM_005120.3(MED12):c.6201A>G (p.Gln2067=)
|
rs375793297
|
0.00010
|
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala)
|
rs765417606
|
0.00009
|
NM_005120.3(MED12):c.3692-11G>A
|
rs773008879
|
0.00009
|
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser)
|
rs202009066
|
0.00009
|
NM_005120.3(MED12):c.5103T>C (p.Ser1701=)
|
rs762801267
|
0.00009
|
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro)
|
rs201843482
|
0.00009
|
NM_005120.3(MED12):c.966T>C (p.Ala322=)
|
rs370616416
|
0.00009
|
NM_005120.3(MED12):c.1028C>T (p.Ser343Leu)
|
rs764107388
|
0.00008
|
NM_005120.3(MED12):c.4425A>G (p.Leu1475=)
|
rs370211858
|
0.00008
|
NM_005120.3(MED12):c.4851G>A (p.Ala1617=)
|
rs377210068
|
0.00008
|
NM_005120.3(MED12):c.1167G>A (p.Lys389=)
|
rs374324656
|
0.00007
|
NM_005120.3(MED12):c.3111G>A (p.Thr1037=)
|
rs185658730
|
0.00007
|
NM_005120.3(MED12):c.4950G>A (p.Thr1650=)
|
rs756839501
|
0.00007
|
NM_005120.3(MED12):c.5593A>G (p.Met1865Val)
|
rs587778438
|
0.00007
|
NM_005120.3(MED12):c.5712G>A (p.Ala1904=)
|
rs189962028
|
0.00007
|
NM_005120.3(MED12):c.2220C>T (p.Ile740=)
|
rs370195616
|
0.00006
|
NM_005120.3(MED12):c.3222C>T (p.Ile1074=)
|
rs374156594
|
0.00006
|
NM_005120.3(MED12):c.4620G>T (p.Val1540=)
|
rs756385578
|
0.00006
|
NM_005120.3(MED12):c.5205C>T (p.Arg1735=)
|
rs747836622
|
0.00006
|
NM_005120.3(MED12):c.5400+44C>G
|
rs757133536
|
0.00006
|
NM_005120.3(MED12):c.568A>G (p.Ile190Val)
|
rs374780236
|
0.00006
|
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)
|
rs372606012
|
0.00006
|
NM_005120.3(MED12):c.1033C>T (p.Pro345Ser)
|
rs761157306
|
0.00005
|
NM_005120.3(MED12):c.2311A>G (p.Ile771Val)
|
rs749158402
|
0.00005
|
NM_005120.3(MED12):c.4864-6C>T
|
rs1018026145
|
0.00005
|
NM_005120.3(MED12):c.4880G>A (p.Arg1627His)
|
rs759857680
|
0.00005
|
NM_005120.3(MED12):c.4971T>C (p.Leu1657=)
|
rs398124198
|
0.00005
|
NM_005120.3(MED12):c.5490A>C (p.Thr1830=)
|
rs762466624
|
0.00005
|
NM_005120.3(MED12):c.6139A>G (p.Ile2047Val)
|
rs748668603
|
0.00005
|
NM_005120.3(MED12):c.2136C>T (p.Pro712=)
|
rs377207665
|
0.00004
|
NM_005120.3(MED12):c.3721A>G (p.Thr1241Ala)
|
rs1028631372
|
0.00004
|
NM_005120.3(MED12):c.5190G>C (p.Leu1730=)
|
rs753355369
|
0.00004
|
NM_005120.3(MED12):c.5442G>C (p.Val1814=)
|
rs773540568
|
0.00004
|
NM_005120.3(MED12):c.5775A>G (p.Ser1925=)
|
rs376753995
|
0.00004
|
NM_005120.3(MED12):c.5966G>A (p.Arg1989His)
|
rs1569482448
|
0.00004
|
NM_005120.3(MED12):c.6285A>G (p.Gln2095=)
|
rs794727673
|
0.00004
|
NM_005120.3(MED12):c.183C>T (p.Asn61=)
|
rs770411750
|
0.00003
|
NM_005120.3(MED12):c.204+13T>G
|
rs901178143
|
0.00003
|
NM_005120.3(MED12):c.2429A>C (p.Glu810Ala)
|
rs752847512
|
0.00003
|
NM_005120.3(MED12):c.2849+14C>T
|
rs398124196
|
0.00003
|
NM_005120.3(MED12):c.2895C>T (p.Ser965=)
|
rs1060504496
|
0.00003
|
NM_005120.3(MED12):c.3012C>T (p.Ile1004=)
|
rs775829185
|
0.00003
|
NM_005120.3(MED12):c.3782G>A (p.Arg1261Gln)
|
rs1388327076
|
0.00003
|
NM_005120.3(MED12):c.4146C>T (p.Ile1382=)
|
rs923552252
|
0.00003
|
NM_005120.3(MED12):c.4416-48T>C
|
rs12849277
|
0.00003
|
NM_005120.3(MED12):c.4428G>A (p.Leu1476=)
|
rs982066662
|
0.00003
|
NM_005120.3(MED12):c.5316G>A (p.Pro1772=)
|
rs398124199
|
0.00003
|
NM_005120.3(MED12):c.5778T>C (p.Ser1926=)
|
rs758530859
|
0.00003
|
NM_005120.3(MED12):c.6490+52C>T
|
rs369098007
|
0.00003
|
NM_005120.3(MED12):c.1031C>A (p.Thr344Asn)
|
rs773615925
|
0.00002
|
NM_005120.3(MED12):c.1066C>A (p.Arg356=)
|
rs763867883
|
0.00002
|
NM_005120.3(MED12):c.1132G>A (p.Val378Ile)
|
rs779969587
|
0.00002
|
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)
|
rs368913305
|
0.00002
|
NM_005120.3(MED12):c.1994C>G (p.Ser665Cys)
|
rs764981858
|
0.00002
|
NM_005120.3(MED12):c.2118C>T (p.Val706=)
|
rs1346228842
|
0.00002
|
NM_005120.3(MED12):c.2172T>C (p.Val724=)
|
rs187478018
|
0.00002
|
NM_005120.3(MED12):c.3110C>T (p.Thr1037Met)
|
rs377078179
|
0.00002
|
NM_005120.3(MED12):c.3209+35C>T
|
rs190123882
|
0.00002
|
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser)
|
rs863223704
|
0.00002
|
NM_005120.3(MED12):c.3355-16C>G
|
rs201933970
|
0.00002
|
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys)
|
rs202120461
|
0.00002
|
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn)
|
rs759532414
|
0.00002
|
NM_005120.3(MED12):c.439G>A (p.Ala147Thr)
|
rs748453083
|
0.00002
|
NM_005120.3(MED12):c.4898A>G (p.Glu1633Gly)
|
rs1295435834
|
0.00002
|
NM_005120.3(MED12):c.5585G>A (p.Arg1862His)
|
rs773713291
|
0.00002
|
NM_005120.3(MED12):c.5653G>A (p.Val1885Ile)
|
rs762659794
|
0.00002
|
NM_005120.3(MED12):c.5893C>T (p.Pro1965Ser)
|
rs2092336419
|
0.00002
|
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser)
|
rs901541873
|
0.00002
|
NM_005120.3(MED12):c.6526C>T (p.Arg2176Cys)
|
rs777818556
|
0.00002
|
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)
|
rs752300879
|
0.00001
|
NM_005120.3(MED12):c.1140C>T (p.His380=)
|
rs753714929
|
0.00001
|
NM_005120.3(MED12):c.1253G>A (p.Arg418His)
|
rs1431487428
|
0.00001
|
NM_005120.3(MED12):c.1754G>A (p.Arg585Gln)
|
rs747113641
|
0.00001
|
NM_005120.3(MED12):c.1895G>A (p.Arg632Gln)
|
rs199582086
|
0.00001
|
NM_005120.3(MED12):c.1929C>T (p.Asp643=)
|
rs758195942
|
0.00001
|
NM_005120.3(MED12):c.1996A>G (p.Met666Val)
|
rs1401003961
|
0.00001
|
NM_005120.3(MED12):c.201C>G (p.Ala67=)
|
rs374555675
|
0.00001
|
NM_005120.3(MED12):c.2116G>A (p.Val706Ile)
|
rs1300750523
|
0.00001
|
NM_005120.3(MED12):c.2128G>A (p.Val710Met)
|
rs797045697
|
0.00001
|
NM_005120.3(MED12):c.2137C>T (p.Pro713Ser)
|
rs772484830
|
0.00001
|
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr)
|
rs778325168
|
0.00001
|
NM_005120.3(MED12):c.2422+16C>A
|
rs774516868
|
0.00001
|
NM_005120.3(MED12):c.2450G>A (p.Arg817His)
|
rs749801457
|
0.00001
|
NM_005120.3(MED12):c.3219C>T (p.Asp1073=)
|
rs1266845318
|
0.00001
|
NM_005120.3(MED12):c.3288T>G (p.Leu1096=)
|
rs1167877198
|
0.00001
|
NM_005120.3(MED12):c.3609C>T (p.Cys1203=)
|
rs751742488
|
0.00001
|
NM_005120.3(MED12):c.3691+38A>G
|
rs369769263
|
0.00001
|
NM_005120.3(MED12):c.3745C>T (p.Leu1249Phe)
|
rs1422779785
|
0.00001
|
NM_005120.3(MED12):c.3797G>A (p.Arg1266His)
|
rs587780391
|
0.00001
|
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp)
|
rs777250096
|
0.00001
|
NM_005120.3(MED12):c.4048-4A>G
|
rs1222848911
|
0.00001
|
NM_005120.3(MED12):c.4120-4C>G
|
rs1253682531
|
0.00001
|
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)
|
rs1366165823
|
0.00001
|
NM_005120.3(MED12):c.4265G>A (p.Arg1422His)
|
rs1255849432
|
0.00001
|
NM_005120.3(MED12):c.4416-8G>T
|
rs770256156
|
0.00001
|
NM_005120.3(MED12):c.4702G>A (p.Gly1568Ser)
|
rs1218546722
|
0.00001
|
NM_005120.3(MED12):c.4879C>T (p.Arg1627Cys)
|
rs776748297
|
0.00001
|
NM_005120.3(MED12):c.5026-12T>A
|
rs1057520901
|
0.00001
|
NM_005120.3(MED12):c.5134C>T (p.Arg1712Trp)
|
rs763233945
|
0.00001
|
NM_005120.3(MED12):c.5203C>T (p.Arg1735Cys)
|
rs778386823
|
0.00001
|
NM_005120.3(MED12):c.5206G>A (p.Ala1736Thr)
|
rs1042718707
|
0.00001
|
NM_005120.3(MED12):c.5258C>T (p.Ala1753Val)
|
rs1246253918
|
0.00001
|
NM_005120.3(MED12):c.5418G>A (p.Pro1806=)
|
rs770957462
|
0.00001
|
NM_005120.3(MED12):c.5584C>T (p.Arg1862Cys)
|
rs200279192
|
0.00001
|
NM_005120.3(MED12):c.5612G>A (p.Arg1871Gln)
|
rs761581305
|
0.00001
|
NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser)
|
rs758621985
|
0.00001
|
NM_005120.3(MED12):c.5809G>A (p.Gly1937Ser)
|
rs781638379
|
0.00001
|
NM_005120.3(MED12):c.5826+3A>G
|
rs1302805754
|
0.00001
|
NM_005120.3(MED12):c.5952T>C (p.Leu1984=)
|
rs2092336597
|
0.00001
|
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser)
|
rs769232520
|
0.00001
|
NM_005120.3(MED12):c.6045-5T>C
|
rs1294743596
|
0.00001
|
NM_005120.3(MED12):c.621A>T (p.Pro207=)
|
rs1467258035
|
0.00001
|
NM_005120.3(MED12):c.6315A>G (p.Gln2105=)
|
rs1343388487
|
0.00001
|
NM_005120.3(MED12):c.6491-40G>A
|
rs780779497
|
0.00001
|
NM_005120.3(MED12):c.845G>A (p.Arg282Gln)
|
rs1278775881
|
0.00001
|
NM_005120.3(MED12):c.877C>T (p.Leu293=)
|
rs764716429
|
0.00001
|
NM_005120.2(MED12):c.6273_6278dup
|
rs748394417
|
|
NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln)
|
rs748394417
|
|
NM_005120.2(MED12):c.6300_6329del
|
rs773480549
|
|
NM_005120.3(MED12):c.1053G>T (p.Met351Ile)
|
rs2147780368
|
|
NM_005120.3(MED12):c.1070C>T (p.Pro357Leu)
|
rs2147780460
|
|
NM_005120.3(MED12):c.1088G>T (p.Ser363Ile)
|
rs2147780535
|
|
NM_005120.3(MED12):c.1113G>A (p.Leu371=)
|
rs780470012
|
|
NM_005120.3(MED12):c.1203G>A (p.Pro401=)
|
rs368546216
|
|
NM_005120.3(MED12):c.1247A>T (p.Gln416Leu)
|
|
|
NM_005120.3(MED12):c.1249-2A>G
|
|
|
NM_005120.3(MED12):c.1273dup (p.Glu425fs)
|
rs1556334780
|
|
NM_005120.3(MED12):c.133T>G (p.Phe45Val)
|
rs2147770734
|
|
NM_005120.3(MED12):c.1745-3C>T
|
rs1602296746
|
|
NM_005120.3(MED12):c.1753C>G (p.Arg585Gly)
|
|
|
NM_005120.3(MED12):c.1810A>T (p.Ile604Phe)
|
|
|
NM_005120.3(MED12):c.1861C>T (p.Arg621Ter)
|
rs2147789622
|
|
NM_005120.3(MED12):c.1892C>T (p.Pro631Leu)
|
rs1057524167
|
|
NM_005120.3(MED12):c.1926T>A (p.Asp642Glu)
|
|
|
NM_005120.3(MED12):c.1943A>C (p.Glu648Ala)
|
|
|
NM_005120.3(MED12):c.1977T>G (p.Asp659Glu)
|
|
|
NM_005120.3(MED12):c.1993T>C (p.Ser665Pro)
|
|
|
NM_005120.3(MED12):c.1994C>T (p.Ser665Phe)
|
rs764981858
|
|
NM_005120.3(MED12):c.204+5G>C
|
rs2147771855
|
|
NM_005120.3(MED12):c.2093G>A (p.Ser698Asn)
|
rs863223710
|
|
NM_005120.3(MED12):c.2123AGG[1] (p.Glu709del)
|
rs1261680398
|
|
NM_005120.3(MED12):c.2178C>T (p.Tyr726=)
|
|
|
NM_005120.3(MED12):c.221GCA[1] (p.Ser75del)
|
|
|
NM_005120.3(MED12):c.2252A>G (p.Asn751Ser)
|
rs863223700
|
|
NM_005120.3(MED12):c.2266G>A (p.Val756Ile)
|
|
|
NM_005120.3(MED12):c.2271G>A (p.Leu757=)
|
rs756091104
|
|
NM_005120.3(MED12):c.2275G>A (p.Gly759Arg)
|
|
|
NM_005120.3(MED12):c.2320A>G (p.Ile774Val)
|
rs2147793183
|
|
NM_005120.3(MED12):c.2384C>T (p.Pro795Leu)
|
rs2092301217
|
|
NM_005120.3(MED12):c.2443C>T (p.Arg815Trp)
|
|
|
NM_005120.3(MED12):c.2516A>G (p.Tyr839Cys)
|
rs2147795814
|
|
NM_005120.3(MED12):c.2568C>A (p.Ile856=)
|
|
|
NM_005120.3(MED12):c.2596C>T (p.His866Tyr)
|
rs2147796486
|
|
NM_005120.3(MED12):c.2635C>T (p.Leu879Phe)
|
rs2147796576
|
|
NM_005120.3(MED12):c.2714C>G (p.Ala905Gly)
|
|
|
NM_005120.3(MED12):c.2729A>G (p.Lys910Arg)
|
|
|
NM_005120.3(MED12):c.272G>T (p.Arg91Leu)
|
rs1057524478
|
|
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu)
|
rs2147797835
|
|
NM_005120.3(MED12):c.2750G>A (p.Ser917Asn)
|
rs1556336129
|
|
NM_005120.3(MED12):c.2791C>T (p.Arg931Trp)
|
rs2147798245
|
|
NM_005120.3(MED12):c.2836C>G (p.Gln946Glu)
|
rs2147798531
|
|
NM_005120.3(MED12):c.2868G>C (p.Lys956Asn)
|
rs2147799309
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.2963A>G (p.Lys988Arg)
|
rs2147799533
|
|
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)
|
rs80338759
|
|
NM_005120.3(MED12):c.3063C>A (p.Phe1021Leu)
|
rs797045698
|
|
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)
|
rs879255526
|
|
NM_005120.3(MED12):c.3122A>G (p.Lys1041Arg)
|
|
|
NM_005120.3(MED12):c.3205G>A (p.Asp1069Asn)
|
|
|
NM_005120.3(MED12):c.3251A>C (p.Tyr1084Ser)
|
|
|
NM_005120.3(MED12):c.3284T>C (p.Val1095Ala)
|
rs2147802401
|
|
NM_005120.3(MED12):c.3306C>T (p.Ser1102=)
|
rs2147802558
|
|
NM_005120.3(MED12):c.3354+6A>G
|
rs770027742
|
|
NM_005120.3(MED12):c.3355-16_3355-13del
|
rs1556336608
|
|
NM_005120.3(MED12):c.3355-8dup
|
rs750373111
|
|
NM_005120.3(MED12):c.3405C>T (p.Leu1135=)
|
|
|
NM_005120.3(MED12):c.3410C>G (p.Ala1137Gly)
|
rs2147803636
|
|
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)
|
rs387907360
|
|
NM_005120.3(MED12):c.3479G>A (p.Cys1160Tyr)
|
rs2092310486
|
|
NM_005120.3(MED12):c.3480T>C (p.Cys1160=)
|
rs1463883892
|
|
NM_005120.3(MED12):c.34C>T (p.Arg12Trp)
|
|
|
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser)
|
rs1602299778
|
|
NM_005120.3(MED12):c.3509G>A (p.Arg1170Gln)
|
rs2147804813
|
|
NM_005120.3(MED12):c.3572A>T (p.Asp1191Val)
|
rs2147804957
|
|
NM_005120.3(MED12):c.3641G>A (p.Arg1214His)
|
rs2092311084
|
|
NM_005120.3(MED12):c.3646G>A (p.Val1216Met)
|
rs2147805923
|
|
NM_005120.3(MED12):c.3647T>C (p.Val1216Ala)
|
rs2147805932
|
|
NM_005120.3(MED12):c.3662T>C (p.Phe1221Ser)
|
|
|
NM_005120.3(MED12):c.3667G>A (p.Val1223Ile)
|
rs1057524217
|
|
NM_005120.3(MED12):c.3691+2dup
|
|
|
NM_005120.3(MED12):c.3691+5G>A
|
rs2147806182
|
|
NM_005120.3(MED12):c.3691+8G>A
|
rs2092311203
|
|
NM_005120.3(MED12):c.3692-22A>C
|
rs73539607
|
|
NM_005120.3(MED12):c.369C>T (p.Thr123=)
|
rs769484204
|
|
NM_005120.3(MED12):c.3760G>A (p.Gly1254Arg)
|
rs1459632977
|
|
NM_005120.3(MED12):c.3773G>T (p.Ser1258Ile)
|
rs2147807409
|
|
NM_005120.3(MED12):c.3775G>A (p.Gly1259Ser)
|
|
|
NM_005120.3(MED12):c.3779G>T (p.Gly1260Val)
|
rs2147807429
|
|
NM_005120.3(MED12):c.3844G>A (p.Val1282Met)
|
rs398124197
|
|
NM_005120.3(MED12):c.3851G>A (p.Arg1284His)
|
rs979229015
|
|
NM_005120.3(MED12):c.3860G>T (p.Cys1287Phe)
|
|
|
NM_005120.3(MED12):c.3868-21C>A
|
|
|
NM_005120.3(MED12):c.3868-7T>A
|
rs587780392
|
|
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys)
|
rs863223706
|
|
NM_005120.3(MED12):c.3884G>A (p.Arg1295His)
|
rs1556337063
|
|
NM_005120.3(MED12):c.3920T>C (p.Leu1307Pro)
|
rs2147808430
|
|
NM_005120.3(MED12):c.3928_3930delinsTCC (p.Pro1310Ser)
|
rs863223712
|
|
NM_005120.3(MED12):c.3955C>T (p.Arg1319Cys)
|
rs901783069
|
|
NM_005120.3(MED12):c.3956G>A (p.Arg1319His)
|
rs1421325265
|
|
NM_005120.3(MED12):c.3968T>C (p.Leu1323Pro)
|
rs1556337085
|
|
NM_005120.3(MED12):c.397-12A>G
|
rs192515277
|
|
NM_005120.3(MED12):c.4009G>A (p.Glu1337Lys)
|
rs1057520129
|
|
NM_005120.3(MED12):c.4011A>C (p.Glu1337Asp)
|
rs2147808786
|
|
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
|
|
|
NM_005120.3(MED12):c.4048-11dup
|
rs1213691583
|
|
NM_005120.3(MED12):c.4048-12C>T
|
rs1556337459
|
|
NM_005120.3(MED12):c.4048-6T>C
|
rs2147811804
|
|
NM_005120.3(MED12):c.4070G>A (p.Arg1357His)
|
rs2147811858
|
|
NM_005120.3(MED12):c.4097T>C (p.Met1366Thr)
|
|
|
NM_005120.3(MED12):c.4119+183G>A
|
rs147423866
|
|
NM_005120.3(MED12):c.4144A>G (p.Ile1382Val)
|
|
|
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)
|
rs863223696
|
|
NM_005120.3(MED12):c.4210G>A (p.Ala1404Thr)
|
rs2147813494
|
|
NM_005120.3(MED12):c.4222C>A (p.Pro1408Thr)
|
rs867023185
|
|
NM_005120.3(MED12):c.4225A>G (p.Ser1409Gly)
|
rs2092319198
|
|
NM_005120.3(MED12):c.4255T>C (p.Ser1419Pro)
|
rs2147814288
|
|
NM_005120.3(MED12):c.4354G>C (p.Glu1452Gln)
|
rs2147814607
|
|
NM_005120.3(MED12):c.4355A>C (p.Glu1452Ala)
|
rs2092319925
|
|
NM_005120.3(MED12):c.4372G>C (p.Gly1458Arg)
|
rs863223698
|
|
NM_005120.3(MED12):c.4400G>A (p.Arg1467Gln)
|
rs1488533087
|
|
NM_005120.3(MED12):c.4415+33G>A
|
rs372112475
|
|
NM_005120.3(MED12):c.4415+3A>G
|
rs1602301683
|
|
NM_005120.3(MED12):c.4416-66_4416-65insTTTCT
|
|
|
NM_005120.3(MED12):c.4416-73T>C
|
|
|
NM_005120.3(MED12):c.4416-74_4416-73insCCTCTTCTCT
|
|
|
NM_005120.3(MED12):c.4416-77CTCTT[13]
|
rs56658066
|
|
NM_005120.3(MED12):c.4416-77CTCTT[14]
|
rs56658066
|
|
NM_005120.3(MED12):c.4416-77CTCTT[15]
|
rs56658066
|
|
NM_005120.3(MED12):c.4416-77CTCTT[16]
|
rs56658066
|
|
NM_005120.3(MED12):c.4416-77CTCTT[7]
|
rs56658066
|
|
NM_005120.3(MED12):c.4416-78_4416-74dup
|
|
|
NM_005120.3(MED12):c.4442T>C (p.Phe1481Ser)
|
rs2147816845
|
|
NM_005120.3(MED12):c.4489G>A (p.Glu1497Lys)
|
rs868164882
|
|
NM_005120.3(MED12):c.4509C>T (p.Leu1503=)
|
rs2147817069
|
|
NM_005120.3(MED12):c.4523A>G (p.His1508Arg)
|
|
|
NM_005120.3(MED12):c.4552C>G (p.Gln1518Glu)
|
|
|
NM_005120.3(MED12):c.4568G>A (p.Cys1523Tyr)
|
|
|
NM_005120.3(MED12):c.458T>C (p.Val153Ala)
|
|
|
NM_005120.3(MED12):c.4618-106del
|
rs35646519
|
|
NM_005120.3(MED12):c.4618-106dup
|
rs35646519
|
|
NM_005120.3(MED12):c.4620G>A (p.Val1540=)
|
rs756385578
|
|
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg)
|
rs794727576
|
|
NM_005120.3(MED12):c.4684C>T (p.Leu1562=)
|
|
|
NM_005120.3(MED12):c.4728-11T>G
|
rs2147822249
|
|
NM_005120.3(MED12):c.473G>A (p.Trp158Ter)
|
rs1556334114
|
|
NM_005120.3(MED12):c.4772A>G (p.Asn1591Ser)
|
rs2147822394
|
|
NM_005120.3(MED12):c.4828A>G (p.Lys1610Glu)
|
|
|
NM_005120.3(MED12):c.4831C>G (p.Arg1611Gly)
|
rs727503868
|
|
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys)
|
rs727503868
|
|
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)
|
rs1569482153
|
|
NM_005120.3(MED12):c.4896G>A (p.Leu1632=)
|
|
|
NM_005120.3(MED12):c.4904T>C (p.Val1635Ala)
|
|
|
NM_005120.3(MED12):c.4910A>C (p.Gln1637Pro)
|
|
|
NM_005120.3(MED12):c.4997C>T (p.Ala1666Val)
|
rs2092329067
|
|
NM_005120.3(MED12):c.5005G>A (p.Asp1669Asn)
|
rs779481901
|
|
NM_005120.3(MED12):c.5042C>A (p.Thr1681Asn)
|
rs2092332349
|
|
NM_005120.3(MED12):c.5068C>A (p.Leu1690Ile)
|
|
|
NM_005120.3(MED12):c.5125C>T (p.Arg1709Ter)
|
rs886041581
|
|
NM_005120.3(MED12):c.5135_5138dup (p.Val1714fs)
|
rs1556338764
|
|
NM_005120.3(MED12):c.5139A>C (p.Arg1713=)
|
|
|
NM_005120.3(MED12):c.5179C>T (p.His1727Tyr)
|
|
|
NM_005120.3(MED12):c.5197C>T (p.Arg1733Trp)
|
|
|
NM_005120.3(MED12):c.5237C>T (p.Pro1746Leu)
|
rs2147826599
|
|
NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu)
|
rs748064846
|
|
NM_005120.3(MED12):c.5263A>T (p.Thr1755Ser)
|
|
|
NM_005120.3(MED12):c.5272G>C (p.Glu1758Gln)
|
|
|
NM_005120.3(MED12):c.5303A>C (p.Lys1768Thr)
|
rs1295791827
|
|
NM_005120.3(MED12):c.5303A>G (p.Lys1768Arg)
|
rs1295791827
|
|
NM_005120.3(MED12):c.5405A>G (p.Tyr1802Cys)
|
|
|
NM_005120.3(MED12):c.5422C>T (p.Arg1808Trp)
|
rs372271659
|
|
NM_005120.3(MED12):c.5512T>C (p.Ser1838Pro)
|
rs2147828251
|
|
NM_005120.3(MED12):c.553+302C>G
|
rs62609584
|
|
NM_005120.3(MED12):c.5563G>A (p.Val1855Met)
|
rs1085307774
|
|
NM_005120.3(MED12):c.5571A>C (p.Pro1857=)
|
|
|
NM_005120.3(MED12):c.5589A>C (p.Leu1863Phe)
|
|
|
NM_005120.3(MED12):c.5621A>T (p.Tyr1874Phe)
|
|
|
NM_005120.3(MED12):c.5641A>G (p.Thr1881Ala)
|
rs2147829238
|
|
NM_005120.3(MED12):c.5642C>G (p.Thr1881Ser)
|
|
|
NM_005120.3(MED12):c.5667A>G (p.Glu1889=)
|
|
|
NM_005120.3(MED12):c.5674T>G (p.Ser1892Ala)
|
rs2147829347
|
|
NM_005120.3(MED12):c.5709T>A (p.Pro1903=)
|
rs1602304963
|
|
NM_005120.3(MED12):c.5734C>T (p.Arg1912Cys)
|
rs2147829625
|
|
NM_005120.3(MED12):c.5769A>G (p.Gly1923=)
|
|
|
NM_005120.3(MED12):c.5808C>G (p.Tyr1936Ter)
|
|
|
NM_005120.3(MED12):c.5882G>T (p.Gly1961Val)
|
|
|
NM_005120.3(MED12):c.5898dup (p.Ser1967fs)
|
rs879255527
|
|
NM_005120.3(MED12):c.5917T>C (p.Tyr1973His)
|
|
|
NM_005120.3(MED12):c.5920C>T (p.Gln1974Ter)
|
rs1569482431
|
|
NM_005120.3(MED12):c.5922G>T (p.Gln1974His)
|
rs879255528
|
|
NM_005120.3(MED12):c.5954T>C (p.Val1985Ala)
|
rs2092336606
|
|
NM_005120.3(MED12):c.5957A>C (p.Asp1986Ala)
|
rs1064796982
|
|
NM_005120.3(MED12):c.5965C>T (p.Arg1989Cys)
|
rs1009330609
|
|
NM_005120.3(MED12):c.5983C>T (p.Pro1995Ser)
|
rs2092336678
|
|
NM_005120.3(MED12):c.6037A>G (p.Thr2013Ala)
|
rs777453338
|
|
NM_005120.3(MED12):c.607G>A (p.Glu203Lys)
|
rs1219301632
|
|
NM_005120.3(MED12):c.6109G>A (p.Gly2037Ser)
|
|
|
NM_005120.3(MED12):c.610T>A (p.Tyr204Asn)
|
|
|
NM_005120.3(MED12):c.6177ACAGCA[1] (p.Gln2075_Gln2076del)
|
rs753370104
|
|
NM_005120.3(MED12):c.6186GCA[3] (p.Gln2075_Gln2076del)
|
rs754533796
|
|
NM_005120.3(MED12):c.6206_6207insGCATCAGCAGCAACAGCA (p.2065_2069Q[5]HQQQQQ[1])
|
rs2147839617
|
|
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup)
|
rs757160341
|
|
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup)
|
rs757160341
|
|
NM_005120.3(MED12):c.6210G>A (p.Gln2070=)
|
rs1229904793
|
|
NM_005120.3(MED12):c.6226_6227insCAG (p.Gln2076delinsProGlu)
|
rs2147839929
|
|
NM_005120.3(MED12):c.6238C>T (p.Arg2080Trp)
|
|
|
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del)
|
rs786200971
|
|
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup)
|
rs786200971
|
|
NM_005120.3(MED12):c.6241CAG[8] (p.Gln2085_Gln2086dup)
|
rs786200971
|
|
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup)
|
rs761195801
|
|
NM_005120.3(MED12):c.6288GCA[10] (p.Gln2113_Gln2115dup)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup)
|
rs766775649
|
|
NM_005120.3(MED12):c.628G>C (p.Ala210Pro)
|
rs1379201163
|
|
NM_005120.3(MED12):c.6297G>A (p.Gln2099=)
|
rs1480313864
|
|
NM_005120.3(MED12):c.6309ACAGCA[1] (p.Gln2114_Gln2115del)
|
rs764789036
|
|
NM_005120.3(MED12):c.6309ACAGCA[3] (p.Gln2114_Gln2115dup)
|
rs764789036
|
|
NM_005120.3(MED12):c.6318GCA[5] (p.Gln2115dup)
|
rs1168018409
|
|
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del)
|
rs727503869
|
|
NM_005120.3(MED12):c.6330A>G (p.Gln2110=)
|
|
|
NM_005120.3(MED12):c.6336A>G (p.Gln2112=)
|
|
|
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del)
|
rs1353930135
|
|
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)
|
rs398124200
|
|
NM_005120.3(MED12):c.6365A>G (p.Gln2122Arg)
|
rs2147842352
|
|
NM_005120.3(MED12):c.6409-71dup
|
rs371432455
|
|
NM_005120.3(MED12):c.6418C>T (p.Gln2140Ter)
|
rs2147844739
|
|
NM_005120.3(MED12):c.641G>A (p.Gly214Asp)
|
|
|
NM_005120.3(MED12):c.6422G>A (p.Gly2141Glu)
|
rs1556340261
|
|
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)
|
rs1085307941
|
|
NM_005120.3(MED12):c.659G>A (p.Gly220Glu)
|
rs2147777713
|
|
NM_005120.3(MED12):c.692G>A (p.Arg231Gln)
|
|
|
NM_005120.3(MED12):c.70G>T (p.Val24Phe)
|
rs2092281566
|
|
NM_005120.3(MED12):c.734A>G (p.Gln245Arg)
|
rs1569480972
|
|
NM_005120.3(MED12):c.736-53_736-40dup
|
rs71951253
|
|
NM_005120.3(MED12):c.85C>A (p.Pro29Thr)
|
rs2147767136
|
|
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)
|
rs1556334519
|
|
NM_005120.3(MED12):c.892G>T (p.Ala298Ser)
|
rs2147779555
|
|
NM_005120.3(MED12):c.938G>A (p.Ser313Asn)
|
rs1317622485
|
|
NM_005120.3(MED12):c.93G>C (p.Gln31His)
|
rs1057521988
|
|
NM_005120.3(MED12):c.956T>C (p.Val319Ala)
|
rs2147779816
|
|
NM_005120.3(MED12):c.994C>T (p.Pro332Ser)
|
|
|