NM_005120.3(MED12):c.5400+6C>T
|
rs192656109
|
0.00121
|
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.381G>A (p.Thr127=)
|
rs202125318
|
0.00039
|
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala)
|
rs765417606
|
0.00009
|
NM_005120.3(MED12):c.1033C>T (p.Pro345Ser)
|
rs761157306
|
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.6139A>G (p.Ile2047Val)
|
rs748668603
|
0.00005
|
NM_005120.3(MED12):c.3721A>G (p.Thr1241Ala)
|
rs1028631372
|
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.2849+14C>T
|
rs398124196
|
0.00003
|
NM_005120.3(MED12):c.3782G>A (p.Arg1261Gln)
|
rs1388327076
|
0.00003
|
NM_005120.3(MED12):c.5316G>A (p.Pro1772=)
|
rs398124199
|
0.00003
|
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.3110C>T (p.Thr1037Met)
|
rs377078179
|
0.00002
|
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser)
|
rs863223704
|
0.00002
|
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys)
|
rs202120461
|
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.1253G>A (p.Arg418His)
|
rs1431487428
|
0.00001
|
NM_005120.3(MED12):c.1996A>G (p.Met666Val)
|
rs1401003961
|
0.00001
|
NM_005120.3(MED12):c.2116G>A (p.Val706Ile)
|
rs1300750523
|
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.2450G>A (p.Arg817His)
|
rs749801457
|
0.00001
|
NM_005120.3(MED12):c.3219C>T (p.Asp1073=)
|
rs1266845318
|
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.4159A>G (p.Ile1387Val)
|
rs1366165823
|
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.5134C>T (p.Arg1712Trp)
|
rs763233945
|
0.00001
|
NM_005120.3(MED12):c.5203C>T (p.Arg1735Cys)
|
rs778386823
|
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.5826+3A>G
|
rs1302805754
|
0.00001
|
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser)
|
rs769232520
|
0.00001
|
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.1247A>T (p.Gln416Leu)
|
|
|
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.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.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.2275G>A (p.Gly759Arg)
|
|
|
NM_005120.3(MED12):c.2320A>G (p.Ile774Val)
|
rs2147793183
|
|
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.2963A>G (p.Lys988Arg)
|
rs2147799533
|
|
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.3354+6A>G
|
rs770027742
|
|
NM_005120.3(MED12):c.3405C>T (p.Leu1135=)
|
|
|
NM_005120.3(MED12):c.3410C>G (p.Ala1137Gly)
|
rs2147803636
|
|
NM_005120.3(MED12):c.3479G>A (p.Cys1160Tyr)
|
rs2092310486
|
|
NM_005120.3(MED12):c.34C>T (p.Arg12Trp)
|
|
|
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.3647T>C (p.Val1216Ala)
|
rs2147805932
|
|
NM_005120.3(MED12):c.3667G>A (p.Val1223Ile)
|
rs1057524217
|
|
NM_005120.3(MED12):c.3691+5G>A
|
rs2147806182
|
|
NM_005120.3(MED12):c.3691+8G>A
|
rs2092311203
|
|
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.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.4011A>C (p.Glu1337Asp)
|
rs2147808786
|
|
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
|
|
|
NM_005120.3(MED12):c.4097T>C (p.Met1366Thr)
|
|
|
NM_005120.3(MED12):c.4144A>G (p.Ile1382Val)
|
|
|
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.4415+3A>G
|
rs1602301683
|
|
NM_005120.3(MED12):c.4416-77CTCTT[13]
|
rs56658066
|
|
NM_005120.3(MED12):c.4416-77CTCTT[16]
|
rs56658066
|
|
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.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.4620G>A (p.Val1540=)
|
rs756385578
|
|
NM_005120.3(MED12):c.4684C>T (p.Leu1562=)
|
|
|
NM_005120.3(MED12):c.4728-11T>G
|
rs2147822249
|
|
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.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.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.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.5563G>A (p.Val1855Met)
|
rs1085307774
|
|
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.5674T>G (p.Ser1892Ala)
|
rs2147829347
|
|
NM_005120.3(MED12):c.5734C>T (p.Arg1912Cys)
|
rs2147829625
|
|
NM_005120.3(MED12):c.5882G>T (p.Gly1961Val)
|
|
|
NM_005120.3(MED12):c.5917T>C (p.Tyr1973His)
|
|
|
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.6206_6207insGCATCAGCAGCAACAGCA (p.2065_2069Q[5]HQQQQQ[1])
|
rs2147839617
|
|
NM_005120.3(MED12):c.6238C>T (p.Arg2080Trp)
|
|
|
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.6336_6362del (p.Gln2115_Gln2123del)
|
rs1353930135
|
|
NM_005120.3(MED12):c.6365A>G (p.Gln2122Arg)
|
rs2147842352
|
|
NM_005120.3(MED12):c.641G>A (p.Gly214Asp)
|
|
|
NM_005120.3(MED12):c.6422G>A (p.Gly2141Glu)
|
rs1556340261
|
|
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.85C>A (p.Pro29Thr)
|
rs2147767136
|
|
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.956T>C (p.Val319Ala)
|
rs2147779816
|
|
NM_005120.3(MED12):c.994C>T (p.Pro332Ser)
|
|
|