NM_005120.3(MED12):c.736-8A>C
|
rs62609586
|
0.22423
|
NM_005120.3(MED12):c.3930A>C (p.Pro1310=)
|
rs5030619
|
0.21992
|
NM_005120.3(MED12):c.2259G>A (p.Arg753=)
|
rs61752446
|
0.01916
|
NM_005120.3(MED12):c.5535C>T (p.Asn1845=)
|
rs34784349
|
0.01002
|
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser)
|
rs147354926
|
0.00685
|
NM_005120.3(MED12):c.2886C>T (p.Ser962=)
|
rs34761462
|
0.00604
|
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.1386G>T (p.Val462=)
|
rs186153976
|
0.00216
|
NM_005120.3(MED12):c.3699G>A (p.Ala1233=)
|
rs184162709
|
0.00133
|
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.2981+13G>A
|
rs73214870
|
0.00105
|
NM_005120.3(MED12):c.3204C>T (p.Pro1068=)
|
rs201807437
|
0.00104
|
NM_005120.3(MED12):c.438A>G (p.Leu146=)
|
rs35068602
|
0.00100
|
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)
|
rs200663107
|
0.00092
|
NM_005120.3(MED12):c.2613G>A (p.Gln871=)
|
rs372344160
|
0.00047
|
NM_005120.3(MED12):c.653C>T (p.Thr218Met)
|
rs369083173
|
0.00043
|
NM_005120.3(MED12):c.1695T>A (p.Ile565=)
|
rs138984044
|
0.00039
|
NM_005120.3(MED12):c.381G>A (p.Thr127=)
|
rs202125318
|
0.00039
|
NM_005120.3(MED12):c.5400+7G>A
|
rs201254124
|
0.00038
|
NM_005120.3(MED12):c.397-12A>T
|
rs192515277
|
0.00036
|
NM_005120.3(MED12):c.4416-15T>C
|
rs770290521
|
0.00031
|
NM_005120.3(MED12):c.4528-19T>C
|
rs370859385
|
0.00026
|
NM_005120.3(MED12):c.736-14C>G
|
rs373707149
|
0.00025
|
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.4111C>T (p.Pro1371Ser)
|
rs587778437
|
0.00018
|
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.1101+18C>T
|
rs200510424
|
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.321A>C (p.Ala107=)
|
rs748627661
|
0.00010
|
NM_005120.3(MED12):c.3357C>T (p.Val1119=)
|
rs773679943
|
0.00010
|
NM_005120.3(MED12):c.3843C>T (p.Tyr1281=)
|
rs369268877
|
0.00010
|
NM_005120.3(MED12):c.3942T>C (p.Ser1314=)
|
rs3810670
|
0.00010
|
NM_005120.3(MED12):c.5617A>G (p.Thr1873Ala)
|
rs372326268
|
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.2721G>A (p.Leu907=)
|
rs757010467
|
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.1349-11T>C
|
rs775255445
|
0.00008
|
NM_005120.3(MED12):c.2413A>C (p.Thr805Pro)
|
rs747413033
|
0.00008
|
NM_005120.3(MED12):c.27C>T (p.Tyr9=)
|
rs376743527
|
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.4359G>A (p.Lys1453=)
|
rs766087487
|
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.6409-14C>A
|
rs374791085
|
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.3692-12C>T
|
rs1343656787
|
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.568A>G (p.Ile190Val)
|
rs374780236
|
0.00006
|
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)
|
rs372606012
|
0.00006
|
NM_005120.3(MED12):c.1323C>T (p.Phe441=)
|
rs371928861
|
0.00005
|
NM_005120.3(MED12):c.2311A>G (p.Ile771Val)
|
rs749158402
|
0.00005
|
NM_005120.3(MED12):c.2685+17G>T
|
rs767584131
|
0.00005
|
NM_005120.3(MED12):c.4253+4G>A
|
rs750162341
|
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.5109C>T (p.Gly1703=)
|
rs781134410
|
0.00005
|
NM_005120.3(MED12):c.5301C>G (p.Pro1767=)
|
rs1381304769
|
0.00005
|
NM_005120.3(MED12):c.5490A>C (p.Thr1830=)
|
rs762466624
|
0.00005
|
NM_005120.3(MED12):c.6003G>A (p.Gln2001=)
|
rs1226474526
|
0.00005
|
NM_005120.3(MED12):c.6044+20G>T
|
rs1022385883
|
0.00005
|
NM_005120.3(MED12):c.6072A>T (p.Thr2024=)
|
rs200692655
|
0.00005
|
NM_005120.3(MED12):c.6139A>G (p.Ile2047Val)
|
rs748668603
|
0.00005
|
NM_005120.3(MED12):c.727A>C (p.Met243Leu)
|
rs1569480971
|
0.00005
|
NM_005120.3(MED12):c.906A>G (p.Thr302=)
|
rs1458066906
|
0.00005
|
NM_005120.3(MED12):c.1348+18G>A
|
rs776024292
|
0.00004
|
NM_005120.3(MED12):c.1364G>A (p.Arg455Gln)
|
rs760696164
|
0.00004
|
NM_005120.3(MED12):c.1682C>T (p.Pro561Leu)
|
rs766485358
|
0.00004
|
NM_005120.3(MED12):c.1744+4C>T
|
rs780750721
|
0.00004
|
NM_005120.3(MED12):c.1975-5C>T
|
rs200891932
|
0.00004
|
NM_005120.3(MED12):c.2136C>T (p.Pro712=)
|
rs377207665
|
0.00004
|
NM_005120.3(MED12):c.255C>T (p.Thr85=)
|
rs979820064
|
0.00004
|
NM_005120.3(MED12):c.2571G>A (p.Thr857=)
|
rs368090262
|
0.00004
|
NM_005120.3(MED12):c.3691+4C>T
|
rs373381746
|
0.00004
|
NM_005120.3(MED12):c.3721A>G (p.Thr1241Ala)
|
rs1028631372
|
0.00004
|
NM_005120.3(MED12):c.4028G>A (p.Arg1343His)
|
rs201044355
|
0.00004
|
NM_005120.3(MED12):c.4044C>T (p.Leu1348=)
|
rs367674919
|
0.00004
|
NM_005120.3(MED12):c.4416-6C>T
|
rs775717904
|
0.00004
|
NM_005120.3(MED12):c.4863+15C>T
|
rs778076528
|
0.00004
|
NM_005120.3(MED12):c.5135G>A (p.Arg1712Gln)
|
rs1196582695
|
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.5826+7G>C
|
rs374573886
|
0.00004
|
NM_005120.3(MED12):c.5966G>A (p.Arg1989His)
|
rs1569482448
|
0.00004
|
NM_005120.3(MED12):c.5981G>A (p.Arg1994Gln)
|
rs750926172
|
0.00004
|
NM_005120.3(MED12):c.6079A>G (p.Ile2027Val)
|
rs750648216
|
0.00004
|
NM_005120.3(MED12):c.6112G>A (p.Val2038Ile)
|
rs762612521
|
0.00004
|
NM_005120.3(MED12):c.6285A>G (p.Gln2095=)
|
rs794727673
|
0.00004
|
NM_005120.3(MED12):c.1486-8T>C
|
rs1202454929
|
0.00003
|
NM_005120.3(MED12):c.1619G>A (p.Arg540His)
|
rs774363039
|
0.00003
|
NM_005120.3(MED12):c.1659C>T (p.Ile553=)
|
rs763388314
|
0.00003
|
NM_005120.3(MED12):c.1794G>A (p.Leu598=)
|
rs776762599
|
0.00003
|
NM_005120.3(MED12):c.183C>T (p.Asn61=)
|
rs770411750
|
0.00003
|
NM_005120.3(MED12):c.2395C>T (p.Leu799=)
|
rs1280842063
|
0.00003
|
NM_005120.3(MED12):c.2429A>C (p.Glu810Ala)
|
rs752847512
|
0.00003
|
NM_005120.3(MED12):c.2484T>C (p.Asp828=)
|
rs781733323
|
0.00003
|
NM_005120.3(MED12):c.2542-5A>G
|
rs777247768
|
0.00003
|
NM_005120.3(MED12):c.2748C>A (p.Gly916=)
|
rs768686458
|
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.3333C>T (p.Asn1111=)
|
rs781289776
|
0.00003
|
NM_005120.3(MED12):c.3381G>T (p.Ser1127=)
|
rs369946933
|
0.00003
|
NM_005120.3(MED12):c.3782G>A (p.Arg1261Gln)
|
rs1388327076
|
0.00003
|
NM_005120.3(MED12):c.3985C>G (p.Arg1329Gly)
|
rs766827969
|
0.00003
|
NM_005120.3(MED12):c.4146C>T (p.Ile1382=)
|
rs923552252
|
0.00003
|
NM_005120.3(MED12):c.4232G>A (p.Ser1411Asn)
|
rs761320689
|
0.00003
|
NM_005120.3(MED12):c.448A>G (p.Thr150Ala)
|
rs758980420
|
0.00003
|
NM_005120.3(MED12):c.4711G>A (p.Asp1571Asn)
|
rs962560401
|
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.5836C>T (p.Pro1946Ser)
|
rs1195178209
|
0.00003
|
NM_005120.3(MED12):c.6168A>G (p.Gln2056=)
|
rs745565325
|
0.00003
|
NM_005120.3(MED12):c.6291G>A (p.Gln2097=)
|
rs756285149
|
0.00003
|
NM_005120.3(MED12):c.6326A>C (p.Gln2109Pro)
|
rs755793630
|
0.00003
|
NM_005120.3(MED12):c.6465C>T (p.Val2155=)
|
rs764620745
|
0.00003
|
NM_005120.3(MED12):c.735+19T>C
|
rs369585015
|
0.00003
|
NM_005120.3(MED12):c.927G>A (p.Leu309=)
|
rs957824537
|
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.1170C>T (p.Thr390=)
|
rs772236514
|
0.00002
|
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)
|
rs368913305
|
0.00002
|
NM_005120.3(MED12):c.1332C>T (p.Cys444=)
|
rs746205041
|
0.00002
|
NM_005120.3(MED12):c.1344T>G (p.Thr448=)
|
rs375202766
|
0.00002
|
NM_005120.3(MED12):c.1363C>T (p.Arg455Trp)
|
rs1268612180
|
0.00002
|
NM_005120.3(MED12):c.1807C>T (p.Leu603=)
|
rs797045696
|
0.00002
|
NM_005120.3(MED12):c.1956C>T (p.Ser652=)
|
rs199873151
|
0.00002
|
NM_005120.3(MED12):c.1994C>G (p.Ser665Cys)
|
rs764981858
|
0.00002
|
NM_005120.3(MED12):c.204+7C>T
|
rs776275934
|
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.2202C>T (p.Tyr734=)
|
rs1366328614
|
0.00002
|
NM_005120.3(MED12):c.2227-4G>A
|
rs751157238
|
0.00002
|
NM_005120.3(MED12):c.2308G>A (p.Ala770Thr)
|
rs199860580
|
0.00002
|
NM_005120.3(MED12):c.2686-15C>T
|
rs200842589
|
0.00002
|
NM_005120.3(MED12):c.3110C>T (p.Thr1037Met)
|
rs377078179
|
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.3516C>G (p.Thr1172=)
|
rs1057521581
|
0.00002
|
NM_005120.3(MED12):c.3692-14C>T
|
rs747228964
|
0.00002
|
NM_005120.3(MED12):c.3693G>T (p.Gly1231=)
|
rs965896553
|
0.00002
|
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys)
|
rs202120461
|
0.00002
|
NM_005120.3(MED12):c.3796C>T (p.Arg1266Cys)
|
rs1060502168
|
0.00002
|
NM_005120.3(MED12):c.380C>T (p.Thr127Met)
|
rs775072642
|
0.00002
|
NM_005120.3(MED12):c.4077T>G (p.Ser1359=)
|
rs902073429
|
0.00002
|
NM_005120.3(MED12):c.4161C>T (p.Ile1387=)
|
rs776947543
|
0.00002
|
NM_005120.3(MED12):c.4231A>G (p.Ser1411Gly)
|
rs961569982
|
0.00002
|
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn)
|
rs759532414
|
0.00002
|
NM_005120.3(MED12):c.4253+16G>A
|
rs185066241
|
0.00002
|
NM_005120.3(MED12):c.4299T>C (p.Ala1433=)
|
rs763359998
|
0.00002
|
NM_005120.3(MED12):c.4380T>C (p.Ser1460=)
|
rs377119772
|
0.00002
|
NM_005120.3(MED12):c.439G>A (p.Ala147Thr)
|
rs748453083
|
0.00002
|
NM_005120.3(MED12):c.4415+13A>C
|
rs993419382
|
0.00002
|
NM_005120.3(MED12):c.4577A>G (p.Lys1526Arg)
|
rs774937112
|
0.00002
|
NM_005120.3(MED12):c.4761C>T (p.Ser1587=)
|
rs369563649
|
0.00002
|
NM_005120.3(MED12):c.4863+16G>A
|
rs745396813
|
0.00002
|
NM_005120.3(MED12):c.5088G>A (p.Pro1696=)
|
rs202167558
|
0.00002
|
NM_005120.3(MED12):c.5124C>A (p.Val1708=)
|
rs775912778
|
0.00002
|
NM_005120.3(MED12):c.5253G>A (p.Pro1751=)
|
rs770067057
|
0.00002
|
NM_005120.3(MED12):c.5343A>G (p.Glu1781=)
|
rs750991975
|
0.00002
|
NM_005120.3(MED12):c.5427C>T (p.Ser1809=)
|
rs772462354
|
0.00002
|
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser)
|
rs867576281
|
0.00002
|
NM_005120.3(MED12):c.5510G>C (p.Gly1837Ala)
|
rs200328506
|
0.00002
|
NM_005120.3(MED12):c.5561G>A (p.Arg1854His)
|
rs759125296
|
0.00002
|
NM_005120.3(MED12):c.5575C>T (p.Arg1859Cys)
|
rs759956340
|
0.00002
|
NM_005120.3(MED12):c.5576G>A (p.Arg1859His)
|
rs763700798
|
0.00002
|
NM_005120.3(MED12):c.5585G>A (p.Arg1862His)
|
rs773713291
|
0.00002
|
NM_005120.3(MED12):c.5652C>T (p.Gly1884=)
|
rs779068766
|
0.00002
|
NM_005120.3(MED12):c.5653G>A (p.Val1885Ile)
|
rs762659794
|
0.00002
|
NM_005120.3(MED12):c.5718C>T (p.Pro1906=)
|
rs746436864
|
0.00002
|
NM_005120.3(MED12):c.5749-5T>A
|
rs949727987
|
0.00002
|
NM_005120.3(MED12):c.5808C>T (p.Tyr1936=)
|
rs757398839
|
0.00002
|
NM_005120.3(MED12):c.5991C>T (p.Gly1997=)
|
rs780565385
|
0.00002
|
NM_005120.3(MED12):c.6076A>G (p.Met2026Val)
|
rs1294140756
|
0.00002
|
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser)
|
rs901541873
|
0.00002
|
NM_005120.3(MED12):c.6218A>G (p.Gln2073Arg)
|
rs2092345351
|
0.00002
|
NM_005120.3(MED12):c.6526C>T (p.Arg2176Cys)
|
rs777818556
|
0.00002
|
NM_005120.3(MED12):c.672T>C (p.His224=)
|
rs1407401085
|
0.00002
|
NM_005120.3(MED12):c.735+15A>G
|
rs202206536
|
0.00002
|
NM_005120.3(MED12):c.736-10G>A
|
rs764384329
|
0.00002
|
NM_005120.3(MED12):c.736-4A>G
|
rs371311763
|
0.00002
|
NM_005120.3(MED12):c.847-13C>T
|
rs374744294
|
0.00002
|
NM_005120.3(MED12):c.931G>A (p.Gly311Ser)
|
rs1477622307
|
0.00002
|
NM_005120.3(MED12):c.981G>A (p.Thr327=)
|
rs769757456
|
0.00002
|
NM_005120.3(MED12):c.1022C>T (p.Thr341Ile)
|
rs774518546
|
0.00001
|
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)
|
rs752300879
|
0.00001
|
NM_005120.3(MED12):c.1098A>G (p.Leu366=)
|
rs1325162892
|
0.00001
|
NM_005120.3(MED12):c.1102-9A>G
|
rs1165300427
|
0.00001
|
NM_005120.3(MED12):c.1140C>T (p.His380=)
|
rs753714929
|
0.00001
|
NM_005120.3(MED12):c.1208A>G (p.Asn403Ser)
|
rs1602295395
|
0.00001
|
NM_005120.3(MED12):c.1253G>A (p.Arg418His)
|
rs1431487428
|
0.00001
|
NM_005120.3(MED12):c.1257A>C (p.Ala419=)
|
rs754943978
|
0.00001
|
NM_005120.3(MED12):c.1269G>A (p.Glu423=)
|
rs758467351
|
0.00001
|
NM_005120.3(MED12):c.1298A>G (p.Gln433Arg)
|
rs1170167377
|
0.00001
|
NM_005120.3(MED12):c.1377T>A (p.Thr459=)
|
rs764293738
|
0.00001
|
NM_005120.3(MED12):c.147T>A (p.Pro49=)
|
rs774875020
|
0.00001
|
NM_005120.3(MED12):c.1485+14G>A
|
rs1276319871
|
0.00001
|
NM_005120.3(MED12):c.1485+5G>A
|
rs1006276729
|
0.00001
|
NM_005120.3(MED12):c.1513T>A (p.Ser505Thr)
|
rs763909049
|
0.00001
|
NM_005120.3(MED12):c.1545G>A (p.Lys515=)
|
rs1602295964
|
0.00001
|
NM_005120.3(MED12):c.1556G>A (p.Arg519Gln)
|
rs1323878836
|
0.00001
|
NM_005120.3(MED12):c.1599G>A (p.Gln533=)
|
rs914308415
|
0.00001
|
NM_005120.3(MED12):c.1602G>A (p.Ala534=)
|
rs1057523461
|
0.00001
|
NM_005120.3(MED12):c.1662C>T (p.Ala554=)
|
rs1379633991
|
0.00001
|
NM_005120.3(MED12):c.1738A>G (p.Met580Val)
|
rs576733100
|
0.00001
|
NM_005120.3(MED12):c.1744+14C>T
|
rs1263378137
|
0.00001
|
NM_005120.3(MED12):c.1745-19C>T
|
rs1057524262
|
0.00001
|
NM_005120.3(MED12):c.1746G>A (p.Thr582=)
|
rs773240125
|
0.00001
|
NM_005120.3(MED12):c.1754G>A (p.Arg585Gln)
|
rs747113641
|
0.00001
|
NM_005120.3(MED12):c.1773G>A (p.Val591=)
|
rs1476863671
|
0.00001
|
NM_005120.3(MED12):c.1814G>A (p.Arg605Gln)
|
rs1275427306
|
0.00001
|
NM_005120.3(MED12):c.1854C>T (p.Leu618=)
|
rs775882680
|
0.00001
|
NM_005120.3(MED12):c.1895G>A (p.Arg632Gln)
|
rs199582086
|
0.00001
|
NM_005120.3(MED12):c.1974+15C>T
|
rs186876895
|
0.00001
|
NM_005120.3(MED12):c.1975-7C>T
|
rs762265257
|
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.205-20G>A
|
rs780403920
|
0.00001
|
NM_005120.3(MED12):c.2119G>A (p.Glu707Lys)
|
rs768834535
|
0.00001
|
NM_005120.3(MED12):c.2129T>C (p.Val710Ala)
|
rs1187273369
|
0.00001
|
NM_005120.3(MED12):c.2137C>T (p.Pro713Ser)
|
rs772484830
|
0.00001
|
NM_005120.3(MED12):c.2169G>A (p.Gly723=)
|
rs1060504497
|
0.00001
|
NM_005120.3(MED12):c.2194G>A (p.Val732Met)
|
rs750304793
|
0.00001
|
NM_005120.3(MED12):c.2203G>A (p.Ala735Thr)
|
rs756039521
|
0.00001
|
NM_005120.3(MED12):c.2232G>A (p.Glu744=)
|
rs1012702212
|
0.00001
|
NM_005120.3(MED12):c.2265C>T (p.Val755=)
|
rs750186446
|
0.00001
|
NM_005120.3(MED12):c.2280G>A (p.Val760=)
|
rs753948557
|
0.00001
|
NM_005120.3(MED12):c.2305C>A (p.His769Asn)
|
rs755014778
|
0.00001
|
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr)
|
rs778325168
|
0.00001
|
NM_005120.3(MED12):c.2341G>A (p.Val781Ile)
|
rs2092300526
|
0.00001
|
NM_005120.3(MED12):c.2351G>A (p.Arg784His)
|
rs777238737
|
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.2535G>A (p.Thr845=)
|
rs915335433
|
0.00001
|
NM_005120.3(MED12):c.2544C>A (p.Val848=)
|
rs1204827056
|
0.00001
|
NM_005120.3(MED12):c.2631C>T (p.Phe877=)
|
rs751190759
|
0.00001
|
NM_005120.3(MED12):c.2698C>T (p.Leu900=)
|
rs1470081405
|
0.00001
|
NM_005120.3(MED12):c.2784T>G (p.Ala928=)
|
rs1431106485
|
0.00001
|
NM_005120.3(MED12):c.2849+11C>G
|
rs755525809
|
0.00001
|
NM_005120.3(MED12):c.2850-13C>T
|
rs1199760146
|
0.00001
|
NM_005120.3(MED12):c.2859C>T (p.Gly953=)
|
rs930308384
|
0.00001
|
NM_005120.3(MED12):c.2862C>T (p.Val954=)
|
rs748251157
|
0.00001
|
NM_005120.3(MED12):c.2937C>T (p.Tyr979=)
|
rs758935114
|
0.00001
|
NM_005120.3(MED12):c.2982-20C>T
|
rs773211847
|
0.00001
|
NM_005120.3(MED12):c.3063C>T (p.Phe1021=)
|
rs797045698
|
0.00001
|
NM_005120.3(MED12):c.3069C>T (p.Ile1023=)
|
rs753751305
|
0.00001
|
NM_005120.3(MED12):c.3070G>A (p.Asp1024Asn)
|
rs1469572055
|
0.00001
|
NM_005120.3(MED12):c.3149G>A (p.Arg1050His)
|
rs1228685555
|
0.00001
|
NM_005120.3(MED12):c.3192G>A (p.Gly1064=)
|
rs932149153
|
0.00001
|
NM_005120.3(MED12):c.3201T>A (p.Asp1067Glu)
|
rs758288118
|
0.00001
|
NM_005120.3(MED12):c.3219C>T (p.Asp1073=)
|
rs1266845318
|
0.00001
|
NM_005120.3(MED12):c.324A>G (p.Arg108=)
|
rs772440501
|
0.00001
|
NM_005120.3(MED12):c.3288T>G (p.Leu1096=)
|
rs1167877198
|
0.00001
|
NM_005120.3(MED12):c.33C>T (p.His11=)
|
rs1018272698
|
0.00001
|
NM_005120.3(MED12):c.3408C>T (p.Ile1136=)
|
rs756127182
|
0.00001
|
NM_005120.3(MED12):c.3409G>A (p.Ala1137Thr)
|
rs1317457286
|
0.00001
|
NM_005120.3(MED12):c.3609C>T (p.Cys1203=)
|
rs751742488
|
0.00001
|
NM_005120.3(MED12):c.3658G>A (p.Val1220Met)
|
rs1236099919
|
0.00001
|
NM_005120.3(MED12):c.3692-7A>G
|
rs1014804538
|
0.00001
|
NM_005120.3(MED12):c.3745C>T (p.Leu1249Phe)
|
rs1422779785
|
0.00001
|
NM_005120.3(MED12):c.3759G>T (p.Glu1253Asp)
|
rs1350628654
|
0.00001
|
NM_005120.3(MED12):c.3797G>A (p.Arg1266His)
|
rs587780391
|
0.00001
|
NM_005120.3(MED12):c.3849G>T (p.Leu1283=)
|
rs377409217
|
0.00001
|
NM_005120.3(MED12):c.3864A>G (p.Gln1288=)
|
rs370431544
|
0.00001
|
NM_005120.3(MED12):c.3957C>A (p.Arg1319=)
|
rs368549870
|
0.00001
|
NM_005120.3(MED12):c.4016C>T (p.Pro1339Leu)
|
rs757845624
|
0.00001
|
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp)
|
rs777250096
|
0.00001
|
NM_005120.3(MED12):c.4041T>C (p.Ile1347=)
|
rs769884032
|
0.00001
|
NM_005120.3(MED12):c.4047+14G>A
|
rs774488297
|
0.00001
|
NM_005120.3(MED12):c.4120-11A>C
|
rs773425479
|
0.00001
|
NM_005120.3(MED12):c.4120-4C>G
|
rs1253682531
|
0.00001
|
NM_005120.3(MED12):c.4154C>T (p.Ala1385Val)
|
rs771349148
|
0.00001
|
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)
|
rs1366165823
|
0.00001
|
NM_005120.3(MED12):c.4194A>G (p.Ser1398=)
|
rs1319823223
|
0.00001
|
NM_005120.3(MED12):c.4197T>A (p.Ser1399=)
|
rs1389363000
|
0.00001
|
NM_005120.3(MED12):c.4415+20G>A
|
rs369776103
|
0.00001
|
NM_005120.3(MED12):c.4416-8G>T
|
rs770256156
|
0.00001
|
NM_005120.3(MED12):c.4470A>G (p.Lys1490=)
|
rs766138859
|
0.00001
|
NM_005120.3(MED12):c.4527+11C>G
|
rs2092322513
|
0.00001
|
NM_005120.3(MED12):c.4527+19T>C
|
rs2092322558
|
0.00001
|
NM_005120.3(MED12):c.4528-20T>G
|
rs1266001762
|
0.00001
|
NM_005120.3(MED12):c.4599C>G (p.Leu1533=)
|
rs2092323060
|
0.00001
|
NM_005120.3(MED12):c.4617+3G>A
|
rs748647968
|
0.00001
|
NM_005120.3(MED12):c.4635C>G (p.Asp1545Glu)
|
rs151316557
|
0.00001
|
NM_005120.3(MED12):c.4728-10C>T
|
rs1230205688
|
0.00001
|
NM_005120.3(MED12):c.4743T>A (p.Thr1581=)
|
rs1296958553
|
0.00001
|
NM_005120.3(MED12):c.477C>T (p.Leu159=)
|
rs1304010114
|
0.00001
|
NM_005120.3(MED12):c.4827C>T (p.Asn1609=)
|
rs779466860
|
0.00001
|
NM_005120.3(MED12):c.4863+19G>A
|
rs1396684605
|
0.00001
|
NM_005120.3(MED12):c.4929G>A (p.Lys1643=)
|
rs964113005
|
0.00001
|
NM_005120.3(MED12):c.492T>C (p.Cys164=)
|
rs886039163
|
0.00001
|
NM_005120.3(MED12):c.4941T>C (p.Asp1647=)
|
rs753148075
|
0.00001
|
NM_005120.3(MED12):c.4974C>T (p.Ile1658=)
|
rs376179450
|
0.00001
|
NM_005120.3(MED12):c.5013C>T (p.Ile1671=)
|
rs1569482185
|
0.00001
|
NM_005120.3(MED12):c.5026-12T>A
|
rs1057520901
|
0.00001
|
NM_005120.3(MED12):c.5026-13T>C
|
rs1338117954
|
0.00001
|
NM_005120.3(MED12):c.5058G>A (p.Ser1686=)
|
rs1346436513
|
0.00001
|
NM_005120.3(MED12):c.5087C>T (p.Pro1696Leu)
|
rs1211195670
|
0.00001
|
NM_005120.3(MED12):c.5134C>T (p.Arg1712Trp)
|
rs763233945
|
0.00001
|
NM_005120.3(MED12):c.5198G>A (p.Arg1733Gln)
|
rs754537871
|
0.00001
|
NM_005120.3(MED12):c.5206G>A (p.Ala1736Thr)
|
rs1042718707
|
0.00001
|
NM_005120.3(MED12):c.5210A>G (p.Tyr1737Cys)
|
rs2092332758
|
0.00001
|
NM_005120.3(MED12):c.5258C>T (p.Ala1753Val)
|
rs1246253918
|
0.00001
|
NM_005120.3(MED12):c.5360C>G (p.Thr1787Ser)
|
rs1444442163
|
0.00001
|
NM_005120.3(MED12):c.5418G>A (p.Pro1806=)
|
rs770957462
|
0.00001
|
NM_005120.3(MED12):c.5453C>T (p.Pro1818Leu)
|
rs761189421
|
0.00001
|
NM_005120.3(MED12):c.5469C>T (p.His1823=)
|
rs1224259784
|
0.00001
|
NM_005120.3(MED12):c.554-13C>G
|
rs1033217662
|
0.00001
|
NM_005120.3(MED12):c.5592A>G (p.Pro1864=)
|
rs1392245437
|
0.00001
|
NM_005120.3(MED12):c.5602C>G (p.Leu1868Val)
|
rs1326683020
|
0.00001
|
NM_005120.3(MED12):c.5613A>C (p.Arg1871=)
|
rs767241359
|
0.00001
|
NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser)
|
rs758621985
|
0.00001
|
NM_005120.3(MED12):c.5679T>C (p.Tyr1893=)
|
rs747217643
|
0.00001
|
NM_005120.3(MED12):c.5749-8C>T
|
rs1385689270
|
0.00001
|
NM_005120.3(MED12):c.5758G>A (p.Gly1920Ser)
|
rs1415832392
|
0.00001
|
NM_005120.3(MED12):c.5768G>T (p.Gly1923Val)
|
rs1046757174
|
0.00001
|
NM_005120.3(MED12):c.5809G>A (p.Gly1937Ser)
|
rs781638379
|
0.00001
|
NM_005120.3(MED12):c.5862G>A (p.Gln1954=)
|
rs1191896226
|
0.00001
|
NM_005120.3(MED12):c.5874C>T (p.Gly1958=)
|
rs370235478
|
0.00001
|
NM_005120.3(MED12):c.5916T>C (p.Pro1972=)
|
rs2092336480
|
0.00001
|
NM_005120.3(MED12):c.5952T>C (p.Leu1984=)
|
rs2092336597
|
0.00001
|
NM_005120.3(MED12):c.5993A>G (p.Tyr1998Cys)
|
rs1324299187
|
0.00001
|
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser)
|
rs769232520
|
0.00001
|
NM_005120.3(MED12):c.6037A>C (p.Thr2013Pro)
|
rs777453338
|
0.00001
|
NM_005120.3(MED12):c.6044+16G>C
|
rs367904425
|
0.00001
|
NM_005120.3(MED12):c.6124G>A (p.Val2042Ile)
|
rs755577187
|
0.00001
|
NM_005120.3(MED12):c.6145C>A (p.Pro2049Thr)
|
rs756758050
|
0.00001
|
NM_005120.3(MED12):c.6165G>A (p.Gln2055=)
|
rs2092345036
|
0.00001
|
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)
|
rs2092288110
|
0.00001
|
NM_005120.3(MED12):c.6183A>G (p.Gln2061=)
|
rs749041154
|
0.00001
|
NM_005120.3(MED12):c.6186G>C (p.Gln2062His)
|
rs1362044936
|
0.00001
|
NM_005120.3(MED12):c.621A>T (p.Pro207=)
|
rs1467258035
|
0.00001
|
NM_005120.3(MED12):c.6267+20T>C
|
rs1032542640
|
0.00001
|
NM_005120.3(MED12):c.6273G>A (p.Gln2091=)
|
rs1556340048
|
0.00001
|
NM_005120.3(MED12):c.6312G>A (p.Gln2104=)
|
rs1416010935
|
0.00001
|
NM_005120.3(MED12):c.6315A>G (p.Gln2105=)
|
rs1343388487
|
0.00001
|
NM_005120.3(MED12):c.6327G>A (p.Gln2109=)
|
rs1333460909
|
0.00001
|
NM_005120.3(MED12):c.6391C>G (p.Pro2131Ala)
|
rs748914486
|
0.00001
|
NM_005120.3(MED12):c.6399C>G (p.Ser2133=)
|
rs1321273556
|
0.00001
|
NM_005120.3(MED12):c.6416G>A (p.Arg2139His)
|
rs1262235402
|
0.00001
|
NM_005120.3(MED12):c.671A>G (p.His224Arg)
|
rs1459490134
|
0.00001
|
NM_005120.3(MED12):c.707C>T (p.Thr236Ile)
|
rs1278481602
|
0.00001
|
NM_005120.3(MED12):c.76C>G (p.Pro26Ala)
|
rs776154055
|
0.00001
|
NM_005120.3(MED12):c.817C>T (p.Leu273Phe)
|
rs1219519252
|
0.00001
|
NM_005120.3(MED12):c.872C>A (p.Ala291Glu)
|
rs754533515
|
0.00001
|
NM_005120.3(MED12):c.877C>T (p.Leu293=)
|
rs764716429
|
0.00001
|
NC_000023.10:g.(?_69748945)_(70644108_?)dup
|
|
|
NC_000023.10:g.(?_70337406)_(70363304_?)del
|
|
|
NC_000023.10:g.(?_70338585)_(70362088_?)del
|
|
|
NC_000023.10:g.(?_70338585)_(70362088_?)dup
|
|
|
NC_000023.10:g.(?_70348944)_(70350084_?)dup
|
|
|
NC_000023.10:g.(?_70348958)_(70350070_?)dup
|
|
|
NC_000023.10:g.(?_70348964)_(70350064_?)dup
|
|
|
NC_000023.11:g.(?_71118745)_(71142228_?)dup
|
|
|
NC_000023.11:g.(?_71118745)_(71224569_?)dup
|
|
|
NC_000023.11:g.71124975GTT[1]
|
|
|
NC_000023.11:g.71141229GCA[3]
|
|
|
NC_000023.11:g.71141232GCAGCAGCAACAGCAACAGCAGCAGCAGCA[3]
|
rs773480549
|
|
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.100-10C>G
|
|
|
NM_005120.3(MED12):c.100-11T>G
|
|
|
NM_005120.3(MED12):c.100-15G>T
|
|
|
NM_005120.3(MED12):c.100-15_100-14delinsAA
|
rs2147769578
|
|
NM_005120.3(MED12):c.100-15_100-14delinsTT
|
|
|
NM_005120.3(MED12):c.100-19C>T
|
rs930154299
|
|
NM_005120.3(MED12):c.100-2A>T
|
|
|
NM_005120.3(MED12):c.1009C>T (p.Pro337Ser)
|
|
|
NM_005120.3(MED12):c.1011A>C (p.Pro337=)
|
|
|
NM_005120.3(MED12):c.1011A>G (p.Pro337=)
|
rs749348331
|
|
NM_005120.3(MED12):c.1012A>G (p.Thr338Ala)
|
|
|
NM_005120.3(MED12):c.1013C>T (p.Thr338Ile)
|
|
|
NM_005120.3(MED12):c.1026C>T (p.Pro342=)
|
|
|
NM_005120.3(MED12):c.1029G>A (p.Ser343=)
|
|
|
NM_005120.3(MED12):c.1030A>C (p.Thr344Pro)
|
rs1556334571
|
|
NM_005120.3(MED12):c.1060C>A (p.Gln354Lys)
|
|
|
NM_005120.3(MED12):c.1068G>T (p.Arg356=)
|
|
|
NM_005120.3(MED12):c.106C>A (p.Leu36Met)
|
rs2147769903
|
|
NM_005120.3(MED12):c.1077T>G (p.Val359=)
|
|
|
NM_005120.3(MED12):c.1091G>A (p.Cys364Tyr)
|
rs2147780559
|
|
NM_005120.3(MED12):c.1101+14G>A
|
|
|
NM_005120.3(MED12):c.1101+14G>C
|
|
|
NM_005120.3(MED12):c.1101+16G>A
|
|
|
NM_005120.3(MED12):c.1101+19C>T
|
|
|
NM_005120.3(MED12):c.1101+3A>G
|
|
|
NM_005120.3(MED12):c.1102-14T>C
|
|
|
NM_005120.3(MED12):c.1102-20T>C
|
rs2147781663
|
|
NM_005120.3(MED12):c.1103C>T (p.Thr368Ile)
|
|
|
NM_005120.3(MED12):c.1113G>A (p.Leu371=)
|
rs780470012
|
|
NM_005120.3(MED12):c.1131G>A (p.Leu377=)
|
rs755897379
|
|
NM_005120.3(MED12):c.1197T>A (p.Ile399=)
|
|
|
NM_005120.3(MED12):c.1203G>A (p.Pro401=)
|
rs368546216
|
|
NM_005120.3(MED12):c.1217T>C (p.Met406Thr)
|
|
|
NM_005120.3(MED12):c.1234G>A (p.Ala412Thr)
|
|
|
NM_005120.3(MED12):c.1240A>G (p.Thr414Ala)
|
|
|
NM_005120.3(MED12):c.1248+13A>G
|
|
|
NM_005120.3(MED12):c.1248+7C>G
|
rs2147782206
|
|
NM_005120.3(MED12):c.1249-16C>T
|
|
|
NM_005120.3(MED12):c.1249-4G>T
|
rs1272068008
|
|
NM_005120.3(MED12):c.1249-7A>G
|
|
|
NM_005120.3(MED12):c.1249G>A (p.Val417Ile)
|
rs2147783166
|
|
NM_005120.3(MED12):c.1252C>T (p.Arg418Cys)
|
rs2147783217
|
|
NM_005120.3(MED12):c.1265G>A (p.Arg422Gln)
|
|
|
NM_005120.3(MED12):c.1277A>C (p.Gln426Pro)
|
|
|
NM_005120.3(MED12):c.1281G>A (p.Gln427=)
|
|
|
NM_005120.3(MED12):c.1300G>C (p.Ala434Pro)
|
|
|
NM_005120.3(MED12):c.1312C>T (p.Arg438Cys)
|
|
|
NM_005120.3(MED12):c.1314C>T (p.Arg438=)
|
|
|
NM_005120.3(MED12):c.1328A>G (p.Lys443Arg)
|
rs2092292301
|
|
NM_005120.3(MED12):c.133_138del (p.Phe45_Asn46del)
|
|
|
NM_005120.3(MED12):c.1348+14A>C
|
rs937971791
|
|
NM_005120.3(MED12):c.135C>T (p.Phe45=)
|
rs2147770770
|
|
NM_005120.3(MED12):c.1374T>C (p.His458=)
|
|
|
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile)
|
rs2092292878
|
|
NM_005120.3(MED12):c.137A>C (p.Asn46Thr)
|
|
|
NM_005120.3(MED12):c.137A>G (p.Asn46Ser)
|
|
|
NM_005120.3(MED12):c.1409G>A (p.Arg470His)
|
|
|
NM_005120.3(MED12):c.1416C>T (p.Asp472=)
|
rs1569481100
|
|
NM_005120.3(MED12):c.1425C>T (p.Asn475=)
|
|
|
NM_005120.3(MED12):c.1432G>A (p.Asp478Asn)
|
rs2092293014
|
|
NM_005120.3(MED12):c.1434C>G (p.Asp478Glu)
|
|
|
NM_005120.3(MED12):c.1438C>G (p.Leu480Val)
|
|
|
NM_005120.3(MED12):c.1448G>A (p.Arg483Gln)
|
|
|
NM_005120.3(MED12):c.144G>A (p.Gln48=)
|
|
|
NM_005120.3(MED12):c.1476T>C (p.Asp492=)
|
rs1602295711
|
|
NM_005120.3(MED12):c.1485+11A>G
|
|
|
NM_005120.3(MED12):c.1485+20G>C
|
|
|
NM_005120.3(MED12):c.1485+6C>T
|
rs565198403
|
|
NM_005120.3(MED12):c.1485+7G>A
|
rs2092293131
|
|
NM_005120.3(MED12):c.1485+9A>G
|
rs1602295737
|
|
NM_005120.3(MED12):c.1486-13C>T
|
|
|
NM_005120.3(MED12):c.1486-14C>T
|
|
|
NM_005120.3(MED12):c.1486-4C>A
|
|
|
NM_005120.3(MED12):c.1536C>T (p.Val512=)
|
rs942361290
|
|
NM_005120.3(MED12):c.153C>T (p.Val51=)
|
|
|
NM_005120.3(MED12):c.1554T>A (p.Gly518=)
|
rs2147786408
|
|
NM_005120.3(MED12):c.1565C>G (p.Ala522Gly)
|
rs1289442309
|
|
NM_005120.3(MED12):c.15G>C (p.Gly5=)
|
|
|
NM_005120.3(MED12):c.1612G>T (p.Ala538Ser)
|
|
|
NM_005120.3(MED12):c.1614T>C (p.Ala538=)
|
|
|
NM_005120.3(MED12):c.1617+16T>A
|
|
|
NM_005120.3(MED12):c.1617+8G>T
|
|
|
NM_005120.3(MED12):c.1618-18_1618-15del
|
rs1285811923
|
|
NM_005120.3(MED12):c.1622G>A (p.Cys541Tyr)
|
|
|
NM_005120.3(MED12):c.1633G>C (p.Glu545Gln)
|
rs2147787733
|
|
NM_005120.3(MED12):c.1636G>C (p.Ala546Pro)
|
|
|
NM_005120.3(MED12):c.1639G>A (p.Ala547Thr)
|
rs370812643
|
|
NM_005120.3(MED12):c.1639G>T (p.Ala547Ser)
|
|
|
NM_005120.3(MED12):c.1640C>T (p.Ala547Val)
|
|
|
NM_005120.3(MED12):c.1660G>A (p.Ala554Thr)
|
rs863223709
|
|
NM_005120.3(MED12):c.1666G>A (p.Gly556Ser)
|
rs2092295382
|
|
NM_005120.3(MED12):c.1671C>T (p.Ser557=)
|
rs1556335123
|
|
NM_005120.3(MED12):c.1684A>G (p.Ser562Gly)
|
|
|
NM_005120.3(MED12):c.1704T>A (p.Asp568Glu)
|
|
|
NM_005120.3(MED12):c.171C>T (p.Gly57=)
|
|
|
NM_005120.3(MED12):c.1744+10C>T
|
|
|
NM_005120.3(MED12):c.1744+5G>A
|
rs368353373
|
|
NM_005120.3(MED12):c.1744+6G>A
|
|
|
NM_005120.3(MED12):c.1745-10C>T
|
rs2147789290
|
|
NM_005120.3(MED12):c.1767G>C (p.Glu589Asp)
|
rs2147789356
|
|
NM_005120.3(MED12):c.1769G>A (p.Arg590Gln)
|
|
|
NM_005120.3(MED12):c.1769G>T (p.Arg590Leu)
|
|
|
NM_005120.3(MED12):c.1801T>G (p.Cys601Gly)
|
|
|
NM_005120.3(MED12):c.1821T>A (p.Asp607Glu)
|
rs375897167
|
|
NM_005120.3(MED12):c.1839G>A (p.Met613Ile)
|
|
|
NM_005120.3(MED12):c.1843A>G (p.Thr615Ala)
|
|
|
NM_005120.3(MED12):c.1844C>T (p.Thr615Ile)
|
|
|
NM_005120.3(MED12):c.184G>A (p.Val62Ile)
|
rs1039763693
|
|
NM_005120.3(MED12):c.1875C>T (p.Ala625=)
|
|
|
NM_005120.3(MED12):c.1889G>T (p.Gly630Val)
|
|
|
NM_005120.3(MED12):c.1913A>G (p.Asp638Gly)
|
|
|
NM_005120.3(MED12):c.1918C>A (p.Pro640Thr)
|
|
|
NM_005120.3(MED12):c.1922C>T (p.Ala641Val)
|
|
|
NM_005120.3(MED12):c.1923C>G (p.Ala641=)
|
rs754725206
|
|
NM_005120.3(MED12):c.1924G>A (p.Asp642Asn)
|
rs1556335288
|
|
NM_005120.3(MED12):c.1924_1974+17dup
|
|
|
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr)
|
rs950787066
|
|
NM_005120.3(MED12):c.1935G>A (p.Glu645=)
|
rs376986062
|
|
NM_005120.3(MED12):c.1943A>C (p.Glu648Ala)
|
|
|
NM_005120.3(MED12):c.1945G>C (p.Ala649Pro)
|
|
|
NM_005120.3(MED12):c.1952GCA[4] (p.Ser655del)
|
|
|
NM_005120.3(MED12):c.1962C>T (p.Ser654=)
|
|
|
NM_005120.3(MED12):c.1963A>G (p.Ser655Gly)
|
rs1569481250
|
|
NM_005120.3(MED12):c.1965C>G (p.Ser655Arg)
|
|
|
NM_005120.3(MED12):c.1970T>C (p.Leu657Pro)
|
rs2147790051
|
|
NM_005120.3(MED12):c.1974+7G>A
|
|
|
NM_005120.3(MED12):c.1975-16T>C
|
|
|
NM_005120.3(MED12):c.1975-9T>C
|
|
|
NM_005120.3(MED12):c.1984C>T (p.Leu662Phe)
|
|
|
NM_005120.3(MED12):c.1986C>T (p.Leu662=)
|
|
|
NM_005120.3(MED12):c.2009C>A (p.Pro670His)
|
|
|
NM_005120.3(MED12):c.2035A>G (p.Met679Val)
|
|
|
NM_005120.3(MED12):c.204+12C>G
|
|
|
NM_005120.3(MED12):c.204+12_204+13del
|
rs200301833
|
|
NM_005120.3(MED12):c.204+14G>C
|
|
|
NM_005120.3(MED12):c.204+9A>C
|
|
|
NM_005120.3(MED12):c.204+9A>G
|
|
|
NM_005120.3(MED12):c.205-11T>G
|
|
|
NM_005120.3(MED12):c.205-17C>T
|
|
|
NM_005120.3(MED12):c.205-3C>T
|
|
|
NM_005120.3(MED12):c.2055+18C>T
|
|
|
NM_005120.3(MED12):c.2055+20T>C
|
|
|
NM_005120.3(MED12):c.2056-16C>G
|
|
|
NM_005120.3(MED12):c.2068A>G (p.Thr690Ala)
|
rs878854752
|
|
NM_005120.3(MED12):c.2082G>A (p.Glu694=)
|
|
|
NM_005120.3(MED12):c.2091C>T (p.Gly697=)
|
|
|
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.2143A>G (p.Lys715Glu)
|
|
|
NM_005120.3(MED12):c.2146G>C (p.Glu716Gln)
|
|
|
NM_005120.3(MED12):c.216C>T (p.Asn72=)
|
|
|
NM_005120.3(MED12):c.2170G>T (p.Val724Phe)
|
|
|
NM_005120.3(MED12):c.2178C>T (p.Tyr726=)
|
|
|
NM_005120.3(MED12):c.2193C>T (p.His731=)
|
|
|
NM_005120.3(MED12):c.2194G>T (p.Val732Leu)
|
|
|
NM_005120.3(MED12):c.2199G>A (p.Gln733=)
|
|
|
NM_005120.3(MED12):c.2235A>G (p.Ser745=)
|
|
|
NM_005120.3(MED12):c.2247G>A (p.Glu749=)
|
|
|
NM_005120.3(MED12):c.2260T>C (p.Leu754=)
|
|
|
NM_005120.3(MED12):c.2263G>A (p.Val755Ile)
|
|
|
NM_005120.3(MED12):c.2266G>A (p.Val756Ile)
|
|
|
NM_005120.3(MED12):c.2271G>A (p.Leu757=)
|
rs756091104
|
|
NM_005120.3(MED12):c.2271G>C (p.Leu757=)
|
|
|
NM_005120.3(MED12):c.2281G>A (p.Gly761Arg)
|
|
|
NM_005120.3(MED12):c.2286G>A (p.Lys762=)
|
rs1602297586
|
|
NM_005120.3(MED12):c.2296G>T (p.Asp766Tyr)
|
rs2147792986
|
|
NM_005120.3(MED12):c.2302C>T (p.Arg768Cys)
|
|
|
NM_005120.3(MED12):c.2303G>A (p.Arg768His)
|
|
|
NM_005120.3(MED12):c.2325C>G (p.Thr775=)
|
rs2147793224
|
|
NM_005120.3(MED12):c.232G>A (p.Ala78Thr)
|
|
|
NM_005120.3(MED12):c.2334C>T (p.Ile778=)
|
|
|
NM_005120.3(MED12):c.2350C>T (p.Arg784Cys)
|
rs2147793341
|
|
NM_005120.3(MED12):c.2360C>G (p.Thr787Arg)
|
|
|
NM_005120.3(MED12):c.2363C>G (p.Ala788Gly)
|
|
|
NM_005120.3(MED12):c.2371+13C>T
|
|
|
NM_005120.3(MED12):c.2371+4G>C
|
|
|
NM_005120.3(MED12):c.2371+7T>G
|
|
|
NM_005120.3(MED12):c.2372-10C>G
|
rs752691764
|
|
NM_005120.3(MED12):c.2372-10C>T
|
rs752691764
|
|
NM_005120.3(MED12):c.2372-15T>A
|
|
|
NM_005120.3(MED12):c.2372-17_2372-6del
|
|
|
NM_005120.3(MED12):c.2372-8C>G
|
|
|
NM_005120.3(MED12):c.2372-8dup
|
rs1457000276
|
|
NM_005120.3(MED12):c.2372-9C>A
|
rs758698633
|
|
NM_005120.3(MED12):c.2372-9C>G
|
rs758698633
|
|
NM_005120.3(MED12):c.2372-9C>T
|
|
|
NM_005120.3(MED12):c.2380G>A (p.Ala794Thr)
|
|
|
NM_005120.3(MED12):c.2383C>T (p.Pro795Ser)
|
rs1602297729
|
|
NM_005120.3(MED12):c.2384C>T (p.Pro795Leu)
|
rs2092301217
|
|
NM_005120.3(MED12):c.2411T>G (p.Leu804Arg)
|
|
|
NM_005120.3(MED12):c.2422+11G>A
|
|
|
NM_005120.3(MED12):c.2422+6T>G
|
rs1569481413
|
|
NM_005120.3(MED12):c.2423-6C>T
|
|
|
NM_005120.3(MED12):c.2436G>A (p.Gly812=)
|
|
|
NM_005120.3(MED12):c.244C>G (p.Arg82Gly)
|
|
|
NM_005120.3(MED12):c.2451C>A (p.Arg817=)
|
rs2147795617
|
|
NM_005120.3(MED12):c.2456G>A (p.Arg819Gln)
|
rs1192740859
|
|
NM_005120.3(MED12):c.2457G>A (p.Arg819=)
|
rs2147795650
|
|
NM_005120.3(MED12):c.245G>A (p.Arg82His)
|
|
|
NM_005120.3(MED12):c.2466C>T (p.Ala822=)
|
rs2147795665
|
|
NM_005120.3(MED12):c.2467T>G (p.Phe823Val)
|
|
|
NM_005120.3(MED12):c.2469C>T (p.Phe823=)
|
rs2147795677
|
|
NM_005120.3(MED12):c.2470C>T (p.Pro824Ser)
|
|
|
NM_005120.3(MED12):c.2478T>C (p.Ala826=)
|
rs2147795724
|
|
NM_005120.3(MED12):c.2481A>G (p.Glu827=)
|
rs2147795738
|
|
NM_005120.3(MED12):c.2529G>C (p.Gln843His)
|
rs2147795833
|
|
NM_005120.3(MED12):c.2532C>G (p.Val844=)
|
|
|
NM_005120.3(MED12):c.2534C>T (p.Thr845Met)
|
|
|
NM_005120.3(MED12):c.2535G>C (p.Thr845=)
|
rs915335433
|
|
NM_005120.3(MED12):c.2541+13G>C
|
rs2147795910
|
|
NM_005120.3(MED12):c.2542-19C>T
|
|
|
NM_005120.3(MED12):c.2542-4T>G
|
rs2147796325
|
|
NM_005120.3(MED12):c.2549G>A (p.Arg850Gln)
|
rs2092303365
|
|
NM_005120.3(MED12):c.2559G>A (p.Leu853=)
|
rs2147796383
|
|
NM_005120.3(MED12):c.2568C>T (p.Ile856=)
|
|
|
NM_005120.3(MED12):c.2570C>T (p.Thr857Met)
|
|
|
NM_005120.3(MED12):c.2571G>C (p.Thr857=)
|
rs368090262
|
|
NM_005120.3(MED12):c.2574C>G (p.Ser858Arg)
|
|
|
NM_005120.3(MED12):c.2616T>C (p.His872=)
|
|
|
NM_005120.3(MED12):c.2619G>A (p.Val873=)
|
rs763140070
|
|
NM_005120.3(MED12):c.2622G>A (p.Gln874=)
|
|
|
NM_005120.3(MED12):c.2631C>G (p.Phe877Leu)
|
|
|
NM_005120.3(MED12):c.2649A>G (p.Ser883=)
|
|
|
NM_005120.3(MED12):c.2652C>T (p.Leu884=)
|
|
|
NM_005120.3(MED12):c.2667C>T (p.Leu889=)
|
|
|
NM_005120.3(MED12):c.2670C>T (p.Ile890=)
|
rs1602298322
|
|
NM_005120.3(MED12):c.267T>C (p.Thr89=)
|
|
|
NM_005120.3(MED12):c.2685+20G>A
|
|
|
NM_005120.3(MED12):c.2685+6G>A
|
rs2147796689
|
|
NM_005120.3(MED12):c.2686-16C>A
|
|
|
NM_005120.3(MED12):c.2686-17C>G
|
|
|
NM_005120.3(MED12):c.2686-20A>T
|
|
|
NM_005120.3(MED12):c.2727C>T (p.Leu909=)
|
|
|
NM_005120.3(MED12):c.272G>A (p.Arg91His)
|
rs1057524478
|
|
NM_005120.3(MED12):c.272G>T (p.Arg91Leu)
|
rs1057524478
|
|
NM_005120.3(MED12):c.2759C>T (p.Thr920Ile)
|
|
|
NM_005120.3(MED12):c.2778C>T (p.Ile926=)
|
|
|
NM_005120.3(MED12):c.2817C>T (p.Leu939=)
|
|
|
NM_005120.3(MED12):c.281C>T (p.Pro94Leu)
|
rs1602293842
|
|
NM_005120.3(MED12):c.2823G>A (p.Gln941=)
|
|
|
NM_005120.3(MED12):c.2835A>G (p.Ala945=)
|
|
|
NM_005120.3(MED12):c.2849+15G>A
|
|
|
NM_005120.3(MED12):c.2850-16T>C
|
|
|
NM_005120.3(MED12):c.2850-7C>G
|
rs1556336208
|
|
NM_005120.3(MED12):c.2850G>T (p.Gly950=)
|
|
|
NM_005120.3(MED12):c.285A>G (p.Gln95=)
|
|
|
NM_005120.3(MED12):c.2860G>A (p.Val954Ile)
|
|
|
NM_005120.3(MED12):c.2871T>C (p.His957=)
|
rs1602298730
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.2894C>T (p.Ser965Phe)
|
rs2147799414
|
|
NM_005120.3(MED12):c.2899G>A (p.Ala967Thr)
|
|
|
NM_005120.3(MED12):c.2905C>T (p.Arg969Cys)
|
|
|
NM_005120.3(MED12):c.2919T>C (p.Ala973=)
|
|
|
NM_005120.3(MED12):c.2940C>T (p.Thr980=)
|
|
|
NM_005120.3(MED12):c.2952T>C (p.His984=)
|
|
|
NM_005120.3(MED12):c.2964A>G (p.Lys988=)
|
rs1346914696
|
|
NM_005120.3(MED12):c.2981+9G>C
|
|
|
NM_005120.3(MED12):c.2982-14C>T
|
|
|
NM_005120.3(MED12):c.2992T>C (p.Ser998Pro)
|
|
|
NM_005120.3(MED12):c.299A>T (p.Asp100Val)
|
|
|
NM_005120.3(MED12):c.3008C>T (p.Thr1003Ile)
|
|
|
NM_005120.3(MED12):c.3009C>G (p.Thr1003=)
|
|
|
NM_005120.3(MED12):c.300T>C (p.Asp100=)
|
rs2147773351
|
|
NM_005120.3(MED12):c.3021C>T (p.Asn1007=)
|
|
|
NM_005120.3(MED12):c.3033G>A (p.Ser1011=)
|
|
|
NM_005120.3(MED12):c.3039A>C (p.Ser1013=)
|
|
|
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)
|
rs879255526
|
|
NM_005120.3(MED12):c.3069C>A (p.Ile1023=)
|
rs753751305
|
|
NM_005120.3(MED12):c.3069C>G (p.Ile1023Met)
|
rs753751305
|
|
NM_005120.3(MED12):c.3105C>G (p.Thr1035=)
|
|
|
NM_005120.3(MED12):c.3109A>G (p.Thr1037Ala)
|
rs2147800946
|
|
NM_005120.3(MED12):c.310C>T (p.Leu104=)
|
|
|
NM_005120.3(MED12):c.3125G>A (p.Ser1042Asn)
|
rs1556336419
|
|
NM_005120.3(MED12):c.3129T>G (p.Leu1043=)
|
|
|
NM_005120.3(MED12):c.3156C>T (p.Ser1052=)
|
|
|
NM_005120.3(MED12):c.3163T>A (p.Cys1055Ser)
|
rs2147801044
|
|
NM_005120.3(MED12):c.3181G>A (p.Val1061Ile)
|
|
|
NM_005120.3(MED12):c.3195C>T (p.His1065=)
|
|
|
NM_005120.3(MED12):c.3209+4T>C
|
|
|
NM_005120.3(MED12):c.3209+6G>A
|
|
|
NM_005120.3(MED12):c.3209+7G>T
|
rs2147801168
|
|
NM_005120.3(MED12):c.320C>T (p.Ala107Val)
|
rs2092284960
|
|
NM_005120.3(MED12):c.3210-18A>G
|
|
|
NM_005120.3(MED12):c.3210-20G>A
|
rs1032124326
|
|
NM_005120.3(MED12):c.3210-7T>C
|
|
|
NM_005120.3(MED12):c.3220A>G (p.Ile1074Val)
|
rs2092308336
|
|
NM_005120.3(MED12):c.3222C>G (p.Ile1074Met)
|
|
|
NM_005120.3(MED12):c.3223G>T (p.Ala1075Ser)
|
|
|
NM_005120.3(MED12):c.3246C>G (p.Thr1082=)
|
|
|
NM_005120.3(MED12):c.3260C>T (p.Ser1087Leu)
|
|
|
NM_005120.3(MED12):c.327C>T (p.Ser109=)
|
|
|
NM_005120.3(MED12):c.3284T>C (p.Val1095Ala)
|
rs2147802401
|
|
NM_005120.3(MED12):c.3296T>C (p.Leu1099Ser)
|
|
|
NM_005120.3(MED12):c.3297G>A (p.Leu1099=)
|
|
|
NM_005120.3(MED12):c.3354+6A>C
|
|
|
NM_005120.3(MED12):c.3355-11T>C
|
|
|
NM_005120.3(MED12):c.3355-14G>T
|
|
|
NM_005120.3(MED12):c.3355-16_3355-13del
|
rs1556336608
|
|
NM_005120.3(MED12):c.3355-8dup
|
rs750373111
|
|
NM_005120.3(MED12):c.336C>T (p.Ala112=)
|
|
|
NM_005120.3(MED12):c.3381G>A (p.Ser1127=)
|
rs369946933
|
|
NM_005120.3(MED12):c.3390T>G (p.Thr1130=)
|
|
|
NM_005120.3(MED12):c.3393T>C (p.Phe1131=)
|
|
|
NM_005120.3(MED12):c.3399C>T (p.Ala1133=)
|
rs1042095169
|
|
NM_005120.3(MED12):c.33C>A (p.His11Gln)
|
|
|
NM_005120.3(MED12):c.3412C>A (p.Arg1138=)
|
rs1057523906
|
|
NM_005120.3(MED12):c.3426C>T (p.Leu1142=)
|
|
|
NM_005120.3(MED12):c.3430G>A (p.Glu1144Lys)
|
|
|
NM_005120.3(MED12):c.3476-12T>C
|
|
|
NM_005120.3(MED12):c.3476-20C>G
|
|
|
NM_005120.3(MED12):c.3476-6T>A
|
|
|
NM_005120.3(MED12):c.3480T>C (p.Cys1160=)
|
rs1463883892
|
|
NM_005120.3(MED12):c.3483T>C (p.Ser1161=)
|
|
|
NM_005120.3(MED12):c.3488dup (p.Asp1164fs)
|
|
|
NM_005120.3(MED12):c.3498G>A (p.Glu1166=)
|
rs1556336751
|
|
NM_005120.3(MED12):c.3508C>T (p.Arg1170Trp)
|
rs1389138246
|
|
NM_005120.3(MED12):c.3509G>A (p.Arg1170Gln)
|
rs2147804813
|
|
NM_005120.3(MED12):c.3516C>A (p.Thr1172=)
|
rs1057521581
|
|
NM_005120.3(MED12):c.3546A>G (p.Thr1182=)
|
|
|
NM_005120.3(MED12):c.3558T>A (p.Asn1186Lys)
|
|
|
NM_005120.3(MED12):c.3566A>G (p.Gln1189Arg)
|
rs2147804938
|
|
NM_005120.3(MED12):c.3567G>T (p.Gln1189His)
|
rs2147804945
|
|
NM_005120.3(MED12):c.3577+12T>C
|
|
|
NM_005120.3(MED12):c.3578-11G>A
|
|
|
NM_005120.3(MED12):c.3578-11G>T
|
|
|
NM_005120.3(MED12):c.357C>G (p.Asp119Glu)
|
|
|
NM_005120.3(MED12):c.3582G>A (p.Lys1194=)
|
rs1060504499
|
|
NM_005120.3(MED12):c.3587C>A (p.Thr1196Lys)
|
rs1556336812
|
|
NM_005120.3(MED12):c.3598C>T (p.Arg1200Cys)
|
|
|
NM_005120.3(MED12):c.3605C>A (p.Ser1202Tyr)
|
|
|
NM_005120.3(MED12):c.3605C>G (p.Ser1202Cys)
|
|
|
NM_005120.3(MED12):c.3618C>T (p.His1206=)
|
|
|
NM_005120.3(MED12):c.3619C>G (p.Leu1207Val)
|
rs2092311035
|
|
NM_005120.3(MED12):c.361G>T (p.Ala121Ser)
|
|
|
NM_005120.3(MED12):c.3622C>G (p.Leu1208Val)
|
|
|
NM_005120.3(MED12):c.3641G>A (p.Arg1214His)
|
rs2092311084
|
|
NM_005120.3(MED12):c.3654A>G (p.Gly1218=)
|
|
|
NM_005120.3(MED12):c.3657C>T (p.Ala1219=)
|
|
|
NM_005120.3(MED12):c.3691+10T>C
|
|
|
NM_005120.3(MED12):c.3691+9G>A
|
|
|
NM_005120.3(MED12):c.3691+9dup
|
rs966516434
|
|
NM_005120.3(MED12):c.3692-16C>T
|
rs2147807080
|
|
NM_005120.3(MED12):c.3692-17C>T
|
|
|
NM_005120.3(MED12):c.3692-20C>T
|
|
|
NM_005120.3(MED12):c.3692-5C>T
|
|
|
NM_005120.3(MED12):c.369C>T (p.Thr123=)
|
rs769484204
|
|
NM_005120.3(MED12):c.3728C>T (p.Thr1243Ile)
|
|
|
NM_005120.3(MED12):c.3731G>A (p.Gly1244Glu)
|
|
|
NM_005120.3(MED12):c.3736A>G (p.Thr1246Ala)
|
|
|
NM_005120.3(MED12):c.3743A>T (p.Glu1248Val)
|
|
|
NM_005120.3(MED12):c.3760G>A (p.Gly1254Arg)
|
rs1459632977
|
|
NM_005120.3(MED12):c.3762AGG[1] (p.Gly1257del)
|
rs1602300077
|
|
NM_005120.3(MED12):c.3769G>A (p.Gly1257Ser)
|
rs776373565
|
|
NM_005120.3(MED12):c.3779G>T (p.Gly1260Val)
|
rs2147807429
|
|
NM_005120.3(MED12):c.3781C>T (p.Arg1261Trp)
|
|
|
NM_005120.3(MED12):c.3789G>C (p.Gln1263His)
|
|
|
NM_005120.3(MED12):c.378C>T (p.Leu126=)
|
|
|
NM_005120.3(MED12):c.3795C>T (p.Gly1265=)
|
|
|
NM_005120.3(MED12):c.3797_3798delinsAT (p.Arg1266His)
|
rs2147807577
|
|
NM_005120.3(MED12):c.37C>T (p.Pro13Ser)
|
|
|
NM_005120.3(MED12):c.3800A>G (p.Asn1267Ser)
|
|
|
NM_005120.3(MED12):c.3802A>G (p.Ile1268Val)
|
|
|
NM_005120.3(MED12):c.3807T>C (p.Ser1269=)
|
rs1319771105
|
|
NM_005120.3(MED12):c.3813G>T (p.Glu1271Asp)
|
|
|
NM_005120.3(MED12):c.3820A>G (p.Ser1274Gly)
|
rs2147807641
|
|
NM_005120.3(MED12):c.3823C>T (p.Leu1275=)
|
|
|
NM_005120.3(MED12):c.3861C>T (p.Cys1287=)
|
|
|
NM_005120.3(MED12):c.3867+10_3867+11del
|
rs2147807790
|
|
NM_005120.3(MED12):c.3868-11A>G
|
|
|
NM_005120.3(MED12):c.3884G>A (p.Arg1295His)
|
rs1556337063
|
|
NM_005120.3(MED12):c.3919C>G (p.Leu1307Val)
|
|
|
NM_005120.3(MED12):c.3934T>C (p.Leu1312=)
|
rs1406760316
|
|
NM_005120.3(MED12):c.3943G>A (p.Ala1315Thr)
|
|
|
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu)
|
rs2092313149
|
|
NM_005120.3(MED12):c.3951G>A (p.Ala1317=)
|
|
|
NM_005120.3(MED12):c.3951G>T (p.Ala1317=)
|
rs755194632
|
|
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.3960C>T (p.Leu1320=)
|
|
|
NM_005120.3(MED12):c.397-7C>T
|
rs2092285587
|
|
NM_005120.3(MED12):c.397-8C>T
|
|
|
NM_005120.3(MED12):c.3989T>G (p.Leu1330Arg)
|
rs797045699
|
|
NM_005120.3(MED12):c.3990G>C (p.Leu1330=)
|
|
|
NM_005120.3(MED12):c.3998A>G (p.Asn1333Ser)
|
|
|
NM_005120.3(MED12):c.399C>A (p.Val133=)
|
rs754050535
|
|
NM_005120.3(MED12):c.4011A>C (p.Glu1337Asp)
|
rs2147808786
|
|
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
|
|
|
NM_005120.3(MED12):c.4036C>T (p.Arg1346Cys)
|
|
|
NM_005120.3(MED12):c.4047+13C>T
|
|
|
NM_005120.3(MED12):c.4047+20G>A
|
|
|
NM_005120.3(MED12):c.4048-11C>G
|
|
|
NM_005120.3(MED12):c.4048-11dup
|
rs1213691583
|
|
NM_005120.3(MED12):c.4048-1G>A
|
rs2092317530
|
|
NM_005120.3(MED12):c.4048-20G>T
|
|
|
NM_005120.3(MED12):c.4048-3C>T
|
|
|
NM_005120.3(MED12):c.4048A>G (p.Asn1350Asp)
|
|
|
NM_005120.3(MED12):c.4070G>A (p.Arg1357His)
|
rs2147811858
|
|
NM_005120.3(MED12):c.4074G>A (p.Gln1358=)
|
rs2147811874
|
|
NM_005120.3(MED12):c.4076C>A (p.Ser1359Tyr)
|
|
|
NM_005120.3(MED12):c.4080C>T (p.Ser1360=)
|
rs2147811888
|
|
NM_005120.3(MED12):c.4084G>C (p.Glu1362Gln)
|
|
|
NM_005120.3(MED12):c.4087C>T (p.Leu1363=)
|
|
|
NM_005120.3(MED12):c.4116C>T (p.Asn1372=)
|
|
|
NM_005120.3(MED12):c.4120-17C>A
|
|
|
NM_005120.3(MED12):c.4120-5C>T
|
rs2147813260
|
|
NM_005120.3(MED12):c.4120-7T>A
|
|
|
NM_005120.3(MED12):c.4120-7T>C
|
rs2147813240
|
|
NM_005120.3(MED12):c.4123A>G (p.Met1375Val)
|
|
|
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)
|
rs863223696
|
|
NM_005120.3(MED12):c.4187C>T (p.Thr1396Ile)
|
|
|
NM_005120.3(MED12):c.4196C>A (p.Ser1399Tyr)
|
|
|
NM_005120.3(MED12):c.4199C>T (p.Ser1400Phe)
|
|
|
NM_005120.3(MED12):c.4208C>A (p.Thr1403Asn)
|
rs2147813483
|
|
NM_005120.3(MED12):c.4210G>A (p.Ala1404Thr)
|
rs2147813494
|
|
NM_005120.3(MED12):c.4220T>G (p.Met1407Arg)
|
rs2092319173
|
|
NM_005120.3(MED12):c.4223C>T (p.Pro1408Leu)
|
|
|
NM_005120.3(MED12):c.4245T>C (p.Pro1415=)
|
rs2147813683
|
|
NM_005120.3(MED12):c.4254-11_4254-8del
|
|
|
NM_005120.3(MED12):c.4255T>C (p.Ser1419Pro)
|
rs2147814288
|
|
NM_005120.3(MED12):c.4260A>G (p.Leu1420=)
|
rs34299769
|
|
NM_005120.3(MED12):c.4290C>T (p.Pro1430=)
|
rs2147814427
|
|
NM_005120.3(MED12):c.4325A>G (p.His1442Arg)
|
|
|
NM_005120.3(MED12):c.4328T>G (p.Val1443Gly)
|
|
|
NM_005120.3(MED12):c.4337C>T (p.Ala1446Val)
|
|
|
NM_005120.3(MED12):c.4343G>A (p.Gly1448Glu)
|
rs2147814559
|
|
NM_005120.3(MED12):c.434A>G (p.Tyr145Cys)
|
|
|
NM_005120.3(MED12):c.4369C>G (p.Leu1457Val)
|
|
|
NM_005120.3(MED12):c.4415+11T>A
|
|
|
NM_005120.3(MED12):c.4415+9G>A
|
|
|
NM_005120.3(MED12):c.4416-13C>T
|
|
|
NM_005120.3(MED12):c.4416-16_4416-15insC
|
|
|
NM_005120.3(MED12):c.4416-16_4416-15insCTTCTC
|
|
|
NM_005120.3(MED12):c.4416-16_4416-15insCTTCTCTTCTCTTCTCTTCTC
|
rs58328145
|
|
NM_005120.3(MED12):c.4416-20C>T
|
|
|
NM_005120.3(MED12):c.4416-42_4416-9del
|
|
|
NM_005120.3(MED12):c.4416-7T>A
|
|
|
NM_005120.3(MED12):c.4418T>C (p.Met1473Thr)
|
|
|
NM_005120.3(MED12):c.4449G>A (p.Ser1483=)
|
|
|
NM_005120.3(MED12):c.4486C>T (p.Arg1496Cys)
|
rs759105512
|
|
NM_005120.3(MED12):c.4488C>A (p.Arg1496=)
|
|
|
NM_005120.3(MED12):c.4489G>A (p.Glu1497Lys)
|
rs868164882
|
|
NM_005120.3(MED12):c.4491G>A (p.Glu1497=)
|
|
|
NM_005120.3(MED12):c.4509C>T (p.Leu1503=)
|
rs2147817069
|
|
NM_005120.3(MED12):c.4512C>T (p.Tyr1504=)
|
rs2092322482
|
|
NM_005120.3(MED12):c.4527+14G>A
|
|
|
NM_005120.3(MED12):c.4527+16C>T
|
|
|
NM_005120.3(MED12):c.4527+18A>G
|
|
|
NM_005120.3(MED12):c.4527+18A>T
|
|
|
NM_005120.3(MED12):c.4535A>G (p.Asn1512Ser)
|
|
|
NM_005120.3(MED12):c.4543C>A (p.Arg1515=)
|
|
|
NM_005120.3(MED12):c.454C>T (p.Pro152Ser)
|
rs2147774389
|
|
NM_005120.3(MED12):c.4566T>C (p.Asp1522=)
|
|
|
NM_005120.3(MED12):c.4584T>C (p.Leu1528=)
|
rs1220815401
|
|
NM_005120.3(MED12):c.4593G>A (p.Glu1531=)
|
|
|
NM_005120.3(MED12):c.4606C>T (p.Arg1536Trp)
|
rs2092323072
|
|
NM_005120.3(MED12):c.4617+13G>C
|
|
|
NM_005120.3(MED12):c.4618-13G>T
|
|
|
NM_005120.3(MED12):c.4618-19C>T
|
|
|
NM_005120.3(MED12):c.4618-7C>T
|
|
|
NM_005120.3(MED12):c.4623G>A (p.Gly1541=)
|
|
|
NM_005120.3(MED12):c.4638G>A (p.Thr1546=)
|
rs980389482
|
|
NM_005120.3(MED12):c.4639G>C (p.Val1547Leu)
|
|
|
NM_005120.3(MED12):c.4651A>G (p.Thr1551Ala)
|
rs1375497967
|
|
NM_005120.3(MED12):c.4652C>T (p.Thr1551Ile)
|
|
|
NM_005120.3(MED12):c.4662C>A (p.Thr1554=)
|
|
|
NM_005120.3(MED12):c.466G>A (p.Ala156Thr)
|
rs2147774436
|
|
NM_005120.3(MED12):c.46C>A (p.Arg16=)
|
|
|
NM_005120.3(MED12):c.4701C>T (p.Ser1567=)
|
|
|
NM_005120.3(MED12):c.4720T>G (p.Ser1574Ala)
|
|
|
NM_005120.3(MED12):c.4727+17C>T
|
|
|
NM_005120.3(MED12):c.4727+18G>A
|
|
|
NM_005120.3(MED12):c.4728-6T>A
|
|
|
NM_005120.3(MED12):c.4728-9C>T
|
|
|
NM_005120.3(MED12):c.4728T>C (p.Asn1576=)
|
|
|
NM_005120.3(MED12):c.4762G>A (p.Val1588Met)
|
|
|
NM_005120.3(MED12):c.4762G>T (p.Val1588Leu)
|
rs767396596
|
|
NM_005120.3(MED12):c.4764G>A (p.Val1588=)
|
|
|
NM_005120.3(MED12):c.4772A>G (p.Asn1591Ser)
|
rs2147822394
|
|
NM_005120.3(MED12):c.4779A>G (p.Thr1593=)
|
|
|
NM_005120.3(MED12):c.478A>G (p.Ile160Val)
|
|
|
NM_005120.3(MED12):c.4806G>A (p.Ser1602=)
|
rs755218771
|
|
NM_005120.3(MED12):c.4806G>C (p.Ser1602=)
|
rs755218771
|
|
NM_005120.3(MED12):c.4806G>T (p.Ser1602=)
|
rs755218771
|
|
NM_005120.3(MED12):c.4816A>G (p.Met1606Val)
|
|
|
NM_005120.3(MED12):c.4829A>G (p.Lys1610Arg)
|
|
|
NM_005120.3(MED12):c.4863+7A>G
|
rs2147822616
|
|
NM_005120.3(MED12):c.4864-12del
|
|
|
NM_005120.3(MED12):c.4891A>G (p.Ser1631Gly)
|
|
|
NM_005120.3(MED12):c.489C>A (p.Thr163=)
|
|
|
NM_005120.3(MED12):c.4902G>A (p.Lys1634=)
|
|
|
NM_005120.3(MED12):c.4914G>A (p.Leu1638=)
|
rs2092328932
|
|
NM_005120.3(MED12):c.4937G>A (p.Arg1646Gln)
|
rs2092328967
|
|
NM_005120.3(MED12):c.4979C>G (p.Thr1660Ser)
|
|
|
NM_005120.3(MED12):c.4980C>T (p.Thr1660=)
|
rs2147823550
|
|
NM_005120.3(MED12):c.4995T>C (p.Ile1665=)
|
|
|
NM_005120.3(MED12):c.5005G>A (p.Asp1669Asn)
|
rs779481901
|
|
NM_005120.3(MED12):c.5025+10A>G
|
|
|
NM_005120.3(MED12):c.5025+11T>C
|
|
|
NM_005120.3(MED12):c.5025+1G>C
|
|
|
NM_005120.3(MED12):c.5025+20C>T
|
|
|
NM_005120.3(MED12):c.5026-4G>T
|
|
|
NM_005120.3(MED12):c.503C>T (p.Ala168Val)
|
rs1602294043
|
|
NM_005120.3(MED12):c.5088G>T (p.Pro1696=)
|
|
|
NM_005120.3(MED12):c.5142G>A (p.Val1714=)
|
rs2147826171
|
|
NM_005120.3(MED12):c.5172G>C (p.Leu1724=)
|
rs1602304398
|
|
NM_005120.3(MED12):c.5175C>T (p.Leu1725=)
|
|
|
NM_005120.3(MED12):c.5184A>G (p.Thr1728=)
|
|
|
NM_005120.3(MED12):c.5192G>A (p.Arg1731Lys)
|
rs1569482278
|
|
NM_005120.3(MED12):c.5205C>G (p.Arg1735=)
|
rs747836622
|
|
NM_005120.3(MED12):c.5237C>T (p.Pro1746Leu)
|
rs2147826599
|
|
NM_005120.3(MED12):c.5252C>A (p.Pro1751Gln)
|
rs748064846
|
|
NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu)
|
rs748064846
|
|
NM_005120.3(MED12):c.5253G>C (p.Pro1751=)
|
|
|
NM_005120.3(MED12):c.5260C>G (p.Pro1754Ala)
|
|
|
NM_005120.3(MED12):c.5268G>T (p.Leu1756=)
|
rs1375174608
|
|
NM_005120.3(MED12):c.5272G>C (p.Glu1758Gln)
|
|
|
NM_005120.3(MED12):c.5295G>C (p.Glu1765Asp)
|
|
|
NM_005120.3(MED12):c.5297C>A (p.Pro1766His)
|
|
|
NM_005120.3(MED12):c.5303A>G (p.Lys1768Arg)
|
rs1295791827
|
|
NM_005120.3(MED12):c.5320G>A (p.Ala1774Thr)
|
|
|
NM_005120.3(MED12):c.5336C>T (p.Thr1779Ile)
|
rs1556338856
|
|
NM_005120.3(MED12):c.5344C>T (p.Arg1782Cys)
|
|
|
NM_005120.3(MED12):c.5345G>A (p.Arg1782His)
|
rs1060502167
|
|
NM_005120.3(MED12):c.5347AAG[2] (p.Lys1785del)
|
|
|
NM_005120.3(MED12):c.5349G>A (p.Lys1783=)
|
|
|
NM_005120.3(MED12):c.535C>T (p.His179Tyr)
|
|
|
NM_005120.3(MED12):c.536A>G (p.His179Arg)
|
rs2092285751
|
|
NM_005120.3(MED12):c.5370G>A (p.Lys1790=)
|
|
|
NM_005120.3(MED12):c.5376C>T (p.Arg1792=)
|
|
|
NM_005120.3(MED12):c.5379C>T (p.Ser1793=)
|
|
|
NM_005120.3(MED12):c.5400+11C>T
|
|
|
NM_005120.3(MED12):c.5400+15C>T
|
rs1157498636
|
|
NM_005120.3(MED12):c.5400+16G>A
|
|
|
NM_005120.3(MED12):c.5400+2T>C
|
rs2147827179
|
|
NM_005120.3(MED12):c.5400+4A>G
|
|
|
NM_005120.3(MED12):c.5400+6C>A
|
|
|
NM_005120.3(MED12):c.5400+9C>T
|
|
|
NM_005120.3(MED12):c.5401-3C>A
|
rs1180673067
|
|
NM_005120.3(MED12):c.5405A>G (p.Tyr1802Cys)
|
|
|
NM_005120.3(MED12):c.5408G>A (p.Gly1803Glu)
|
rs2147827854
|
|
NM_005120.3(MED12):c.5417C>T (p.Pro1806Leu)
|
rs368093012
|
|
NM_005120.3(MED12):c.5422C>T (p.Arg1808Trp)
|
rs372271659
|
|
NM_005120.3(MED12):c.5423G>A (p.Arg1808Gln)
|
rs1432487094
|
|
NM_005120.3(MED12):c.5435A>G (p.Tyr1812Cys)
|
|
|
NM_005120.3(MED12):c.543C>T (p.Asp181=)
|
|
|
NM_005120.3(MED12):c.5440G>A (p.Val1814Met)
|
|
|
NM_005120.3(MED12):c.5475C>A (p.Asn1825Lys)
|
|
|
NM_005120.3(MED12):c.5485A>G (p.Ile1829Val)
|
|
|
NM_005120.3(MED12):c.5487_5492dup (p.Thr1830_His1831insGlnThr)
|
rs2092334189
|
|
NM_005120.3(MED12):c.5497A>C (p.Asn1833His)
|
|
|
NM_005120.3(MED12):c.5511C>T (p.Gly1837=)
|
|
|
NM_005120.3(MED12):c.553+13T>C
|
rs2147774701
|
|
NM_005120.3(MED12):c.553+17dup
|
|
|
NM_005120.3(MED12):c.553+9C>T
|
rs1602294060
|
|
NM_005120.3(MED12):c.5552-20C>T
|
|
|
NM_005120.3(MED12):c.5552-3C>T
|
|
|
NM_005120.3(MED12):c.5552-4T>A
|
rs2147828853
|
|
NM_005120.3(MED12):c.5580T>A (p.Pro1860=)
|
|
|
NM_005120.3(MED12):c.5616A>G (p.Pro1872=)
|
rs750250372
|
|
NM_005120.3(MED12):c.5621A>T (p.Tyr1874Phe)
|
|
|
NM_005120.3(MED12):c.5624C>T (p.Pro1875Leu)
|
|
|
NM_005120.3(MED12):c.5655C>T (p.Val1885=)
|
rs1556339100
|
|
NM_005120.3(MED12):c.5660G>A (p.Gly1887Asp)
|
|
|
NM_005120.3(MED12):c.566T>C (p.Ile189Thr)
|
|
|
NM_005120.3(MED12):c.5670C>T (p.Pro1890=)
|
rs2147829327
|
|
NM_005120.3(MED12):c.567C>T (p.Ile189=)
|
|
|
NM_005120.3(MED12):c.5684C>T (p.Thr1895Ile)
|
|
|
NM_005120.3(MED12):c.5693A>G (p.Tyr1898Cys)
|
|
|
NM_005120.3(MED12):c.5708C>T (p.Pro1903Leu)
|
|
|
NM_005120.3(MED12):c.5717C>T (p.Pro1906Leu)
|
|
|
NM_005120.3(MED12):c.5728C>A (p.Arg1910Ser)
|
|
|
NM_005120.3(MED12):c.5734C>T (p.Arg1912Cys)
|
rs2147829625
|
|
NM_005120.3(MED12):c.5735G>T (p.Arg1912Leu)
|
rs767294730
|
|
NM_005120.3(MED12):c.5745C>G (p.Leu1915=)
|
|
|
NM_005120.3(MED12):c.5747A>G (p.Gln1916Arg)
|
rs2147829667
|
|
NM_005120.3(MED12):c.5748+11T>G
|
|
|
NM_005120.3(MED12):c.5749-11T>G
|
|
|
NM_005120.3(MED12):c.5749-11del
|
rs2147830057
|
|
NM_005120.3(MED12):c.5749-15C>T
|
|
|
NM_005120.3(MED12):c.5749-17C>T
|
|
|
NM_005120.3(MED12):c.5749-20G>T
|
|
|
NM_005120.3(MED12):c.5753G>A (p.Ser1918Asn)
|
|
|
NM_005120.3(MED12):c.5754T>C (p.Ser1918=)
|
rs1602305150
|
|
NM_005120.3(MED12):c.5760C>T (p.Gly1920=)
|
rs1437807483
|
|
NM_005120.3(MED12):c.5761A>T (p.Met1921Leu)
|
|
|
NM_005120.3(MED12):c.5773T>C (p.Ser1925Pro)
|
rs2147830190
|
|
NM_005120.3(MED12):c.5794C>A (p.Pro1932Thr)
|
|
|
NM_005120.3(MED12):c.5794C>T (p.Pro1932Ser)
|
|
|
NM_005120.3(MED12):c.579C>T (p.Tyr193=)
|
|
|
NM_005120.3(MED12):c.5819C>T (p.Thr1940Ile)
|
|
|
NM_005120.3(MED12):c.5826+8C>T
|
rs2147830320
|
|
NM_005120.3(MED12):c.5827-15C>G
|
rs1234497074
|
|
NM_005120.3(MED12):c.5827-15C>T
|
|
|
NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser)
|
rs2147830593
|
|
NM_005120.3(MED12):c.5841T>C (p.Tyr1947=)
|
|
|
NM_005120.3(MED12):c.5849A>T (p.His1950Leu)
|
rs2092336344
|
|
NM_005120.3(MED12):c.5867A>C (p.His1956Pro)
|
|
|
NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala)
|
|
|
NM_005120.3(MED12):c.5878G>A (p.Ala1960Thr)
|
rs2092336411
|
|
NM_005120.3(MED12):c.5897C>A (p.Pro1966His)
|
rs2147830796
|
|
NM_005120.3(MED12):c.5904C>T (p.Tyr1968=)
|
rs2092336448
|
|
NM_005120.3(MED12):c.5922G>T (p.Gln1974His)
|
rs879255528
|
|
NM_005120.3(MED12):c.5923A>G (p.Ser1975Gly)
|
|
|
NM_005120.3(MED12):c.5928C>T (p.Thr1976=)
|
rs2147830882
|
|
NM_005120.3(MED12):c.5957A>T (p.Asp1986Val)
|
|
|
NM_005120.3(MED12):c.5962A>G (p.Thr1988Ala)
|
|
|
NM_005120.3(MED12):c.5965C>T (p.Arg1989Cys)
|
rs1009330609
|
|
NM_005120.3(MED12):c.5970C>A (p.His1990Gln)
|
|
|
NM_005120.3(MED12):c.5972T>C (p.Leu1991Pro)
|
|
|
NM_005120.3(MED12):c.5978A>C (p.Gln1993Pro)
|
|
|
NM_005120.3(MED12):c.5983C>T (p.Pro1995Ser)
|
rs2092336678
|
|
NM_005120.3(MED12):c.5989G>T (p.Gly1997Cys)
|
rs1556339260
|
|
NM_005120.3(MED12):c.6015_6016delinsAA (p.Tyr2006Asn)
|
|
|
NM_005120.3(MED12):c.6020G>A (p.Gly2007Glu)
|
rs2147831227
|
|
NM_005120.3(MED12):c.6022C>A (p.His2008Asn)
|
rs2147831234
|
|
NM_005120.3(MED12):c.6023A>G (p.His2008Arg)
|
|
|
NM_005120.3(MED12):c.6024T>C (p.His2008=)
|
|
|
NM_005120.3(MED12):c.6029T>C (p.Leu2010Pro)
|
|
|
NM_005120.3(MED12):c.6037A>G (p.Thr2013Ala)
|
rs777453338
|
|
NM_005120.3(MED12):c.6038C>G (p.Thr2013Ser)
|
|
|
NM_005120.3(MED12):c.6044+15G>C
|
rs2147831315
|
|
NM_005120.3(MED12):c.6045-10A>G
|
|
|
NM_005120.3(MED12):c.6045-13C>G
|
|
|
NM_005120.3(MED12):c.6045-7T>G
|
|
|
NM_005120.3(MED12):c.6046T>C (p.Phe2016Leu)
|
rs2092344632
|
|
NM_005120.3(MED12):c.6048T>C (p.Phe2016=)
|
|
|
NM_005120.3(MED12):c.605C>G (p.Ala202Gly)
|
|
|
NM_005120.3(MED12):c.6060A>T (p.Thr2020=)
|
|
|
NM_005120.3(MED12):c.6069G>C (p.Gln2023His)
|
|
|
NM_005120.3(MED12):c.6070A>T (p.Thr2024Ser)
|
|
|
NM_005120.3(MED12):c.6075C>A (p.Pro2025=)
|
|
|
NM_005120.3(MED12):c.6078G>T (p.Met2026Ile)
|
|
|
NM_005120.3(MED12):c.6094C>G (p.Pro2032Ala)
|
rs2092344746
|
|
NM_005120.3(MED12):c.60G>A (p.Gly20=)
|
|
|
NM_005120.3(MED12):c.6103G>A (p.Ala2035Thr)
|
rs1602306821
|
|
NM_005120.3(MED12):c.6108G>C (p.Gln2036His)
|
|
|
NM_005120.3(MED12):c.6109G>A (p.Gly2037Ser)
|
|
|
NM_005120.3(MED12):c.6111C>T (p.Gly2037=)
|
|
|
NM_005120.3(MED12):c.6114C>T (p.Val2038=)
|
|
|
NM_005120.3(MED12):c.6123C>T (p.Gly2041=)
|
|
|
NM_005120.3(MED12):c.6128G>A (p.Arg2043His)
|
|
|
NM_005120.3(MED12):c.6137C>G (p.Ala2046Gly)
|
|
|
NM_005120.3(MED12):c.6138C>T (p.Ala2046=)
|
rs2147838956
|
|
NM_005120.3(MED12):c.6142C>G (p.Leu2048Val)
|
|
|
NM_005120.3(MED12):c.6150GCA[3] (p.Gln2074_Gln2076del)
|
|
|
NM_005120.3(MED12):c.6150GCA[4] (p.Gln2075_Gln2076del)
|
rs769857818
|
|
NM_005120.3(MED12):c.6150GCA[5] (p.Gln2076del)
|
rs769857818
|
|
NM_005120.3(MED12):c.6150GCA[7] (p.Gln2076dup)
|
rs769857818
|
|
NM_005120.3(MED12):c.6165GCAACAGCA[1] (p.Gln2074_Gln2076del)
|
rs762261992
|
|
NM_005120.3(MED12):c.6165GCAACAGCA[3] (p.Gln2074_Gln2076dup)
|
rs762261992
|
|
NM_005120.3(MED12):c.6168_6197del (p.Gln2067_Gln2076del)
|
|
|
NM_005120.3(MED12):c.616C>G (p.Arg206Gly)
|
rs1556334331
|
|
NM_005120.3(MED12):c.616C>T (p.Arg206Trp)
|
|
|
NM_005120.3(MED12):c.6177A>G (p.Gln2059=)
|
rs775267316
|
|
NM_005120.3(MED12):c.6177ACAGCAACAGCAGCAGCAGCAGCA[1] (p.Gln2069_Gln2076del)
|
rs773709991
|
|
NM_005120.3(MED12):c.6177ACAGCA[1] (p.Gln2075_Gln2076del)
|
rs753370104
|
|
NM_005120.3(MED12):c.6177ACAGCA[3] (p.Gln2075_Gln2076dup)
|
rs753370104
|
|
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del)
|
rs767827315
|
|
NM_005120.3(MED12):c.6177_6194dup (p.Gln2076_Tyr2077insGlnGlnGlnGlnGlnGln)
|
|
|
NM_005120.3(MED12):c.6180_6182dup (p.Gln2076dup)
|
rs2147839452
|
|
NM_005120.3(MED12):c.6186GCA[3] (p.Gln2075_Gln2076del)
|
rs754533796
|
|
NM_005120.3(MED12):c.6186GCA[4] (p.Gln2076del)
|
|
|
NM_005120.3(MED12):c.6186GCA[6] (p.Gln2076dup)
|
rs754533796
|
|
NM_005120.3(MED12):c.6191_6192insACAGCAACA (p.Gln2074_Gln2076dup)
|
rs752416697
|
|
NM_005120.3(MED12):c.6195G>A (p.Gln2065=)
|
rs1001762438
|
|
NM_005120.3(MED12):c.6198G>A (p.Gln2066=)
|
|
|
NM_005120.3(MED12):c.6201ACAGCA[3] (p.Gln2075_Gln2076dup)
|
rs758203078
|
|
NM_005120.3(MED12):c.6204G>A (p.Gln2068=)
|
rs1283568825
|
|
NM_005120.3(MED12):c.6207A>G (p.Gln2069=)
|
|
|
NM_005120.3(MED12):c.6207_6218dup (p.Gln2076_Tyr2077insGlnGlnGlnGln)
|
|
|
NM_005120.3(MED12):c.6208CAG[10] (p.Gln2074_Gln2076dup)
|
rs757160341
|
|
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del)
|
rs757160341
|
|
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.6239G>A (p.Arg2080Gln)
|
rs1602306967
|
|
NM_005120.3(MED12):c.6239_6247dup (p.Gln2082_Gln2083insArgGlnGln)
|
|
|
NM_005120.3(MED12):c.6241CAG[4] (p.Gln2085_Gln2086del)
|
rs786200971
|
|
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.6264G>A (p.Leu2088=)
|
|
|
NM_005120.3(MED12):c.6266G>A (p.Arg2089Gln)
|
rs1001050248
|
|
NM_005120.3(MED12):c.6267+3A>C
|
rs2092345559
|
|
NM_005120.3(MED12):c.6268-17C>G
|
|
|
NM_005120.3(MED12):c.6268-3T>C
|
|
|
NM_005120.3(MED12):c.6268-7C>G
|
|
|
NM_005120.3(MED12):c.6268-7del
|
rs2147841483
|
|
NM_005120.3(MED12):c.6274C>A (p.Gln2092Lys)
|
|
|
NM_005120.3(MED12):c.6279ACAGCA[1] (p.Gln2114_Gln2115del)
|
|
|
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup)
|
rs761195801
|
|
NM_005120.3(MED12):c.6279_6290del (p.Gln2112_Gln2115del)
|
|
|
NM_005120.3(MED12):c.6288GCA[10] (p.Gln2113_Gln2115dup)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[11] (p.Gln2115_His2116insGlnGlnGlnGln)
|
|
|
NM_005120.3(MED12):c.6288GCA[4] (p.Gln2113_Gln2115del)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[6] (p.Gln2115del)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[8] (p.Gln2115dup)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup)
|
rs766775649
|
|
NM_005120.3(MED12):c.6294G>A (p.Gln2098=)
|
rs1408739478
|
|
NM_005120.3(MED12):c.6297G>A (p.Gln2099=)
|
rs1480313864
|
|
NM_005120.3(MED12):c.6297GCAGCAGCAGCAACAGCAACA[3] (p.Gln2109_Gln2115dup)
|
rs1425637621
|
|
NM_005120.3(MED12):c.629C>T (p.Ala210Val)
|
|
|
NM_005120.3(MED12):c.6300G>A (p.Gln2100=)
|
rs1556340080
|
|
NM_005120.3(MED12):c.6300_6314dup (p.Gln2111_Gln2115dup)
|
rs2092346839
|
|
NM_005120.3(MED12):c.6303G>A (p.Gln2101=)
|
rs1490399010
|
|
NM_005120.3(MED12):c.6306G>A (p.Gln2102=)
|
|
|
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.6309_6323dup (p.Gln2115_His2116insGlnGlnGlnGlnGln)
|
|
|
NM_005120.3(MED12):c.6309_6326dup (p.Gln2110_Gln2115dup)
|
rs2147841816
|
|
NM_005120.3(MED12):c.6312_6338del (p.Gln2107_Gln2115del)
|
|
|
NM_005120.3(MED12):c.6318GCA[6] (p.Gln2115_His2116insGlnGln)
|
|
|
NM_005120.3(MED12):c.6318_6347del (p.Gln2106_Gln2115del)
|
|
|
NM_005120.3(MED12):c.6321G>A (p.Gln2107=)
|
rs778103349
|
|
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del)
|
rs727503869
|
|
NM_005120.3(MED12):c.6324G>A (p.Gln2108=)
|
rs749807888
|
|
NM_005120.3(MED12):c.6333G>A (p.Gln2111=)
|
rs1556340108
|
|
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del)
|
rs1353930135
|
|
NM_005120.3(MED12):c.6336_6362dup (p.Gln2123_Ala2124insGlnHisGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)
|
rs398124200
|
|
NM_005120.3(MED12):c.6351G>A (p.Gln2117=)
|
rs1175039083
|
|
NM_005120.3(MED12):c.6352CAGCAACAG[3] (p.Gln2121_Gln2123dup)
|
rs1433422316
|
|
NM_005120.3(MED12):c.6360G>A (p.Gln2120=)
|
rs779631682
|
|
NM_005120.3(MED12):c.6360G>C (p.Gln2120His)
|
|
|
NM_005120.3(MED12):c.6371C>T (p.Ala2124Val)
|
|
|
NM_005120.3(MED12):c.6372G>A (p.Ala2124=)
|
|
|
NM_005120.3(MED12):c.6384A>G (p.Gln2128=)
|
rs1569482811
|
|
NM_005120.3(MED12):c.6386C>G (p.Pro2129Arg)
|
|
|
NM_005120.3(MED12):c.6393C>G (p.Pro2131=)
|
rs2147842475
|
|
NM_005120.3(MED12):c.6397_6408delTCCCAGCCCCAG (p.Ser2133_Gln2136del)
|
|
|
NM_005120.3(MED12):c.6408+16C>T
|
rs1057522248
|
|
NM_005120.3(MED12):c.6408+19C>T
|
|
|
NM_005120.3(MED12):c.6408+1G>A
|
rs2092347488
|
|
NM_005120.3(MED12):c.6408+22del
|
|
|
NM_005120.3(MED12):c.6408+9_6408+12del
|
|
|
NM_005120.3(MED12):c.6409-12A>G
|
|
|
NM_005120.3(MED12):c.6409-14C>G
|
|
|
NM_005120.3(MED12):c.6411C>T (p.Phe2137=)
|
|
|
NM_005120.3(MED12):c.6416_6439del (p.Arg2139_Gln2146del)
|
|
|
NM_005120.3(MED12):c.641G>A (p.Gly214Asp)
|
|
|
NM_005120.3(MED12):c.6426T>G (p.Leu2142=)
|
|
|
NM_005120.3(MED12):c.6435C>T (p.Thr2145=)
|
|
|
NM_005120.3(MED12):c.6477A>G (p.Gln2159=)
|
|
|
NM_005120.3(MED12):c.6479A>G (p.Gln2160Arg)
|
|
|
NM_005120.3(MED12):c.6488C>G (p.Ser2163Cys)
|
|
|
NM_005120.3(MED12):c.6490+10C>T
|
|
|
NM_005120.3(MED12):c.6490+6C>T
|
rs2147845031
|
|
NM_005120.3(MED12):c.6491-20T>C
|
|
|
NM_005120.3(MED12):c.6495C>A (p.Thr2165=)
|
rs2147845582
|
|
NM_005120.3(MED12):c.6502C>A (p.Gln2168Lys)
|
|
|
NM_005120.3(MED12):c.6506C>A (p.Pro2169His)
|
|
|
NM_005120.3(MED12):c.6509G>T (p.Ser2170Ile)
|
|
|
NM_005120.3(MED12):c.6520T>A (p.Phe2174Ile)
|
|
|
NM_005120.3(MED12):c.6527G>A (p.Arg2176His)
|
|
|
NM_005120.3(MED12):c.6529_6530delinsCT (p.Tyr2177Leu)
|
rs2092350107
|
|
NM_005120.3(MED12):c.658G>C (p.Gly220Arg)
|
rs2147777706
|
|
NM_005120.3(MED12):c.669C>G (p.Pro223=)
|
rs2092288251
|
|
NM_005120.3(MED12):c.66C>A (p.Pro22=)
|
rs2092281557
|
|
NM_005120.3(MED12):c.691C>T (p.Arg231Trp)
|
|
|
NM_005120.3(MED12):c.692G>A (p.Arg231Gln)
|
|
|
NM_005120.3(MED12):c.6G>T (p.Ala2=)
|
|
|
NM_005120.3(MED12):c.701A>G (p.Asp234Gly)
|
|
|
NM_005120.3(MED12):c.705C>T (p.Tyr235=)
|
rs2147777898
|
|
NM_005120.3(MED12):c.706A>G (p.Thr236Ala)
|
rs2147777907
|
|
NM_005120.3(MED12):c.708C>G (p.Thr236=)
|
rs34668206
|
|
NM_005120.3(MED12):c.70G>A (p.Val24Ile)
|
rs2092281566
|
|
NM_005120.3(MED12):c.715C>G (p.Leu239Val)
|
|
|
NM_005120.3(MED12):c.726C>T (p.Phe242=)
|
|
|
NM_005120.3(MED12):c.733C>A (p.Gln245Lys)
|
|
|
NM_005120.3(MED12):c.735+13G>T
|
|
|
NM_005120.3(MED12):c.736-3T>C
|
rs2092288995
|
|
NM_005120.3(MED12):c.751A>C (p.Arg251=)
|
|
|
NM_005120.3(MED12):c.772G>T (p.Val258Leu)
|
|
|
NM_005120.3(MED12):c.789G>A (p.Glu263=)
|
|
|
NM_005120.3(MED12):c.795C>T (p.Ile265=)
|
|
|
NM_005120.3(MED12):c.796C>T (p.Arg266Cys)
|
|
|
NM_005120.3(MED12):c.82G>A (p.Asp28Asn)
|
|
|
NM_005120.3(MED12):c.831G>A (p.Leu277=)
|
rs2092289079
|
|
NM_005120.3(MED12):c.846+10G>A
|
|
|
NM_005120.3(MED12):c.846+20T>C
|
|
|
NM_005120.3(MED12):c.846+3A>T
|
|
|
NM_005120.3(MED12):c.846+6dup
|
|
|
NM_005120.3(MED12):c.847-12G>A
|
|
|
NM_005120.3(MED12):c.85C>A (p.Pro29Thr)
|
rs2147767136
|
|
NM_005120.3(MED12):c.876C>T (p.Tyr292=)
|
|
|
NM_005120.3(MED12):c.883C>T (p.Arg295Cys)
|
|
|
NM_005120.3(MED12):c.884G>A (p.Arg295His)
|
|
|
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)
|
rs1556334519
|
|
NM_005120.3(MED12):c.89A>G (p.Lys30Arg)
|
rs2147767167
|
|
NM_005120.3(MED12):c.903T>C (p.Cys301=)
|
|
|
NM_005120.3(MED12):c.907C>T (p.Arg303Trp)
|
|
|
NM_005120.3(MED12):c.908G>A (p.Arg303Gln)
|
|
|
NM_005120.3(MED12):c.913C>T (p.Leu305=)
|
|
|
NM_005120.3(MED12):c.919C>G (p.Leu307Val)
|
|
|
NM_005120.3(MED12):c.934G>A (p.Val312Met)
|
rs377403264
|
|
NM_005120.3(MED12):c.938G>A (p.Ser313Asn)
|
rs1317622485
|
|
NM_005120.3(MED12):c.941G>A (p.Ser314Asn)
|
|
|
NM_005120.3(MED12):c.945C>T (p.His315=)
|
|
|
NM_005120.3(MED12):c.954T>C (p.His318=)
|
|
|
NM_005120.3(MED12):c.958A>G (p.Ile320Val)
|
rs781192327
|
|
NM_005120.3(MED12):c.958A>T (p.Ile320Leu)
|
|
|
NM_005120.3(MED12):c.959T>C (p.Ile320Thr)
|
|
|
NM_005120.3(MED12):c.965C>T (p.Ala322Val)
|
rs2092289745
|
|
NM_005120.3(MED12):c.968A>C (p.Gln323Pro)
|
|
|
NM_005120.3(MED12):c.96G>A (p.Lys32=)
|
rs2147767218
|
|
NM_005120.3(MED12):c.982C>T (p.Leu328=)
|
|
|
NM_005120.3(MED12):c.988A>C (p.Thr330Pro)
|
rs2147780054
|
|
NM_005120.3(MED12):c.99+9G>A
|
|
|
NM_005120.3(MED12):c.993C>T (p.Thr331=)
|
|
|
NM_005120.3(MED12):c.998C>T (p.Ala333Val)
|
|
|
NM_005120.3(MED12):c.99G>A (p.Glu33=)
|
|
|