NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
NM_030973.4(MED25):c.2088G>A (p.Leu696=)
|
rs371157406
|
0.00252
|
NM_030973.4(MED25):c.396C>T (p.Arg132=)
|
rs142353864
|
0.00125
|
NM_030973.4(MED25):c.602C>T (p.Pro201Leu)
|
rs144354024
|
0.00054
|
NM_030973.4(MED25):c.1677G>C (p.Met559Ile)
|
rs369006637
|
0.00041
|
NM_030973.4(MED25):c.135-6T>G
|
rs199743509
|
0.00036
|
NM_030973.4(MED25):c.679G>A (p.Val227Met)
|
rs369825113
|
0.00036
|
NM_030973.4(MED25):c.1132G>A (p.Gly378Ser)
|
rs138166258
|
0.00020
|
NM_030973.4(MED25):c.1482C>T (p.Phe494=)
|
rs185234938
|
0.00018
|
NM_030973.4(MED25):c.247C>G (p.Gln83Glu)
|
rs143148835
|
0.00018
|
NM_030973.4(MED25):c.733G>C (p.Val245Leu)
|
rs771068558
|
0.00016
|
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr)
|
rs199761611
|
0.00014
|
NM_030973.4(MED25):c.629C>T (p.Pro210Leu)
|
rs370423922
|
0.00014
|
NM_030973.4(MED25):c.1090G>A (p.Ala364Thr)
|
rs370994862
|
0.00013
|
NM_030973.4(MED25):c.1786G>A (p.Val596Ile)
|
rs369707406
|
0.00013
|
NM_030973.4(MED25):c.1438C>G (p.Leu480Val)
|
rs148214958
|
0.00011
|
NM_030973.4(MED25):c.286A>G (p.Thr96Ala)
|
rs201460460
|
0.00011
|
NM_030973.4(MED25):c.1055C>T (p.Pro352Leu)
|
rs764267049
|
0.00009
|
NM_030973.4(MED25):c.1801G>A (p.Ala601Thr)
|
rs767338688
|
0.00008
|
NM_030973.4(MED25):c.1101+4G>A
|
rs746210338
|
0.00007
|
NM_030973.4(MED25):c.1756C>T (p.Arg586Cys)
|
rs752175666
|
0.00007
|
NM_030973.4(MED25):c.1762C>T (p.Pro588Ser)
|
rs777358313
|
0.00006
|
NM_030973.4(MED25):c.418C>T (p.Arg140Trp)
|
rs781140315
|
0.00006
|
NM_030973.4(MED25):c.802G>A (p.Val268Ile)
|
rs1015978148
|
0.00006
|
NM_030973.4(MED25):c.1841C>T (p.Pro614Leu)
|
rs201294692
|
0.00005
|
NM_030973.4(MED25):c.1076C>T (p.Thr359Met)
|
rs750201507
|
0.00004
|
NM_030973.4(MED25):c.1873G>A (p.Ala625Thr)
|
rs1038939766
|
0.00004
|
NM_030973.4(MED25):c.1964C>T (p.Pro655Leu)
|
rs202187834
|
0.00004
|
NM_030973.4(MED25):c.2209G>A (p.Val737Ile)
|
rs767118345
|
0.00004
|
NM_030973.4(MED25):c.232C>G (p.Pro78Ala)
|
rs773539397
|
0.00004
|
NM_030973.4(MED25):c.309C>A (p.Phe103Leu)
|
rs918394135
|
0.00004
|
NM_030973.4(MED25):c.4G>C (p.Val2Leu)
|
rs780512266
|
0.00004
|
NM_030973.4(MED25):c.800C>T (p.Pro267Leu)
|
rs757939861
|
0.00004
|
NM_030973.4(MED25):c.1141C>T (p.Pro381Ser)
|
rs751399299
|
0.00003
|
NM_030973.4(MED25):c.1168G>A (p.Gly390Ser)
|
rs752599816
|
0.00003
|
NM_030973.4(MED25):c.1508C>T (p.Thr503Met)
|
rs759574296
|
0.00003
|
NM_030973.4(MED25):c.2045C>T (p.Pro682Leu)
|
rs764017333
|
0.00003
|
NM_030973.4(MED25):c.2098C>T (p.Pro700Ser)
|
rs745533616
|
0.00003
|
NM_030973.4(MED25):c.764C>G (p.Ala255Gly)
|
rs763825256
|
0.00003
|
NM_030973.4(MED25):c.904C>T (p.Arg302Cys)
|
rs775122561
|
0.00003
|
NM_030973.4(MED25):c.956C>A (p.Pro319His)
|
rs139822988
|
0.00003
|
NM_030973.4(MED25):c.1094C>T (p.Pro365Leu)
|
rs536678372
|
0.00002
|
NM_030973.4(MED25):c.125C>T (p.Pro42Leu)
|
rs779085896
|
0.00002
|
NM_030973.4(MED25):c.131T>G (p.Ile44Ser)
|
rs376462101
|
0.00002
|
NM_030973.4(MED25):c.1604A>G (p.Asn535Ser)
|
rs1198078458
|
0.00002
|
NM_030973.4(MED25):c.1691C>T (p.Ala564Val)
|
rs750211605
|
0.00002
|
NM_030973.4(MED25):c.1861C>T (p.Pro621Ser)
|
rs543247926
|
0.00002
|
NM_030973.4(MED25):c.1891C>T (p.Pro631Ser)
|
rs764083423
|
0.00002
|
NM_030973.4(MED25):c.1900A>G (p.Ile634Val)
|
rs776084741
|
0.00002
|
NM_030973.4(MED25):c.1973C>T (p.Thr658Ile)
|
rs768469811
|
0.00002
|
NM_030973.4(MED25):c.2113C>A (p.Pro705Thr)
|
rs367802464
|
0.00002
|
NM_030973.4(MED25):c.315C>T (p.Gly105=)
|
rs1441161522
|
0.00002
|
NM_030973.4(MED25):c.368A>C (p.Gln123Pro)
|
rs750315392
|
0.00002
|
NM_030973.4(MED25):c.557G>A (p.Arg186Gln)
|
rs1376475717
|
0.00002
|
NM_030973.4(MED25):c.569C>T (p.Ala190Val)
|
rs780526739
|
0.00002
|
NM_030973.4(MED25):c.697G>A (p.Gly233Ser)
|
rs778397363
|
0.00002
|
NM_030973.4(MED25):c.748G>A (p.Ala250Thr)
|
rs371817340
|
0.00002
|
NM_030973.4(MED25):c.769C>G (p.Leu257Val)
|
rs1057519203
|
0.00002
|
NM_030973.4(MED25):c.846G>T (p.Gln282His)
|
rs762885909
|
0.00002
|
NM_030973.4(MED25):c.943G>A (p.Gly315Arg)
|
rs1483220422
|
0.00002
|
NM_030973.4(MED25):c.1003G>A (p.Ala335Thr)
|
rs1018204701
|
0.00001
|
NM_030973.4(MED25):c.1006C>T (p.Pro336Ser)
|
rs780177056
|
0.00001
|
NM_030973.4(MED25):c.1039G>C (p.Val347Leu)
|
rs146715554
|
0.00001
|
NM_030973.4(MED25):c.1086C>T (p.Pro362=)
|
rs780086993
|
0.00001
|
NM_030973.4(MED25):c.1101+1G>A
|
rs769486726
|
0.00001
|
NM_030973.4(MED25):c.1103C>A (p.Ala368Glu)
|
rs769174134
|
0.00001
|
NM_030973.4(MED25):c.1103C>T (p.Ala368Val)
|
rs769174134
|
0.00001
|
NM_030973.4(MED25):c.1108A>G (p.Thr370Ala)
|
rs201553319
|
0.00001
|
NM_030973.4(MED25):c.112C>A (p.His38Asn)
|
rs1191519479
|
0.00001
|
NM_030973.4(MED25):c.1157C>T (p.Ala386Val)
|
rs1427321438
|
0.00001
|
NM_030973.4(MED25):c.117C>G (p.Tyr39Ter)
|
rs749356375
|
0.00001
|
NM_030973.4(MED25):c.1190A>G (p.Asn397Ser)
|
rs756897347
|
0.00001
|
NM_030973.4(MED25):c.1210G>A (p.Gly404Arg)
|
rs1213960931
|
0.00001
|
NM_030973.4(MED25):c.1230+7G>T
|
rs1412475364
|
0.00001
|
NM_030973.4(MED25):c.1271C>T (p.Thr424Met)
|
rs2074060664
|
0.00001
|
NM_030973.4(MED25):c.1308C>T (p.Gly436=)
|
rs750031901
|
0.00001
|
NM_030973.4(MED25):c.1322C>T (p.Thr441Met)
|
rs754342751
|
0.00001
|
NM_030973.4(MED25):c.135-3C>T
|
rs750459702
|
0.00001
|
NM_030973.4(MED25):c.1366C>T (p.Gln456Ter)
|
rs758524310
|
0.00001
|
NM_030973.4(MED25):c.1395C>A (p.Phe465Leu)
|
rs143046644
|
0.00001
|
NM_030973.4(MED25):c.1396C>T (p.Arg466Trp)
|
rs759187460
|
0.00001
|
NM_030973.4(MED25):c.1442A>G (p.Glu481Gly)
|
rs2074064696
|
0.00001
|
NM_030973.4(MED25):c.1455C>T (p.Gly485=)
|
rs765634152
|
0.00001
|
NM_030973.4(MED25):c.145G>T (p.Gly49Cys)
|
rs780112917
|
0.00001
|
NM_030973.4(MED25):c.1511C>T (p.Ala504Val)
|
rs1479368676
|
0.00001
|
NM_030973.4(MED25):c.1525C>T (p.Arg509Cys)
|
rs1418129935
|
0.00001
|
NM_030973.4(MED25):c.1678G>C (p.Gly560Arg)
|
rs866498468
|
0.00001
|
NM_030973.4(MED25):c.16G>C (p.Glu6Gln)
|
rs755457665
|
0.00001
|
NM_030973.4(MED25):c.1757G>A (p.Arg586His)
|
rs1184393042
|
0.00001
|
NM_030973.4(MED25):c.1778_1779del (p.Gln593fs)
|
rs763039409
|
0.00001
|
NM_030973.4(MED25):c.1888C>A (p.Pro630Thr)
|
rs900142190
|
0.00001
|
NM_030973.4(MED25):c.2023G>A (p.Ala675Thr)
|
rs1448159136
|
0.00001
|
NM_030973.4(MED25):c.2042C>T (p.Pro681Leu)
|
rs974538844
|
0.00001
|
NM_030973.4(MED25):c.2116G>A (p.Ala706Thr)
|
rs762953015
|
0.00001
|
NM_030973.4(MED25):c.2168G>A (p.Gly723Asp)
|
rs2074102870
|
0.00001
|
NM_030973.4(MED25):c.2192C>T (p.Pro731Leu)
|
rs765135124
|
0.00001
|
NM_030973.4(MED25):c.235G>A (p.Glu79Lys)
|
rs1359745073
|
0.00001
|
NM_030973.4(MED25):c.23C>T (p.Pro8Leu)
|
rs980805046
|
0.00001
|
NM_030973.4(MED25):c.292C>T (p.Leu98Phe)
|
rs753652217
|
0.00001
|
NM_030973.4(MED25):c.295G>A (p.Asp99Asn)
|
rs778775959
|
0.00001
|
NM_030973.4(MED25):c.29G>T (p.Arg10Leu)
|
rs545524810
|
0.00001
|
NM_030973.4(MED25):c.316G>A (p.Gly106Arg)
|
rs535472885
|
0.00001
|
NM_030973.4(MED25):c.344C>T (p.Ala115Val)
|
rs764375282
|
0.00001
|
NM_030973.4(MED25):c.395G>A (p.Arg132His)
|
rs1441155267
|
0.00001
|
NM_030973.4(MED25):c.407G>A (p.Gly136Asp)
|
rs1391030807
|
0.00001
|
NM_030973.4(MED25):c.413C>T (p.Thr138Met)
|
rs200785685
|
0.00001
|
NM_030973.4(MED25):c.502A>T (p.Asn168Tyr)
|
rs1189793403
|
0.00001
|
NM_030973.4(MED25):c.508G>A (p.Val170Met)
|
rs561534872
|
0.00001
|
NM_030973.4(MED25):c.525+6G>A
|
rs1012023208
|
0.00001
|
NM_030973.4(MED25):c.526C>T (p.Arg176Trp)
|
rs757456871
|
0.00001
|
NM_030973.4(MED25):c.556C>T (p.Arg186Trp)
|
rs776291104
|
0.00001
|
NM_030973.4(MED25):c.574C>T (p.Arg192Trp)
|
rs201157765
|
0.00001
|
NM_030973.4(MED25):c.617C>T (p.Pro206Leu)
|
rs368059409
|
0.00001
|
NM_030973.4(MED25):c.688+20C>T
|
rs763013887
|
0.00001
|
NM_030973.4(MED25):c.751G>A (p.Ala251Thr)
|
rs775622130
|
0.00001
|
NM_030973.4(MED25):c.911C>T (p.Ser304Leu)
|
rs546822136
|
0.00001
|
NM_030973.4(MED25):c.931C>G (p.Gln311Glu)
|
rs2074049438
|
0.00001
|
NM_030973.4(MED25):c.949G>T (p.Gly317Cys)
|
rs1280659782
|
0.00001
|
NC_000019.10:g.(?_49828429)_(49829110_?)del
|
|
|
NM_030973.3(MED25):c.1482+1G>A
|
rs1568624159
|
|
NM_030973.4(MED25):c.1025C>T (p.Ser342Phe)
|
rs1600325791
|
|
NM_030973.4(MED25):c.102del (p.Leu35fs)
|
rs2073953986
|
|
NM_030973.4(MED25):c.1048G>A (p.Val350Met)
|
|
|
NM_030973.4(MED25):c.1060T>C (p.Ser354Pro)
|
rs2123880302
|
|
NM_030973.4(MED25):c.1068G>A (p.Leu356=)
|
rs2074050942
|
|
NM_030973.4(MED25):c.1078G>A (p.Ala360Thr)
|
|
|
NM_030973.4(MED25):c.1079C>G (p.Ala360Gly)
|
rs2123880339
|
|
NM_030973.4(MED25):c.107G>A (p.Arg36His)
|
rs1555800954
|
|
NM_030973.4(MED25):c.107G>T (p.Arg36Leu)
|
rs1555800954
|
|
NM_030973.4(MED25):c.1097C>G (p.Ser366Cys)
|
|
|
NM_030973.4(MED25):c.1102-13T>G
|
|
|
NM_030973.4(MED25):c.1106G>A (p.Gly369Asp)
|
|
|
NM_030973.4(MED25):c.1128G>A (p.Val376=)
|
|
|
NM_030973.4(MED25):c.112C>T (p.His38Tyr)
|
|
|
NM_030973.4(MED25):c.1131C>T (p.Ser377=)
|
|
|
NM_030973.4(MED25):c.1133G>A (p.Gly378Asp)
|
rs1600326536
|
|
NM_030973.4(MED25):c.1148_1165del (p.Gln383_Ala388del)
|
rs765219800
|
|
NM_030973.4(MED25):c.1148_1165dup (p.Gln383_Ala388dup)
|
rs765219800
|
|
NM_030973.4(MED25):c.1150C>G (p.Leu384Val)
|
rs1248219304
|
|
NM_030973.4(MED25):c.1160C>G (p.Pro387Arg)
|
rs1433808506
|
|
NM_030973.4(MED25):c.1179G>C (p.Gln393His)
|
rs951202638
|
|
NM_030973.4(MED25):c.1201G>A (p.Ala401Thr)
|
rs1219247533
|
|
NM_030973.4(MED25):c.1202C>T (p.Ala401Val)
|
rs868663771
|
|
NM_030973.4(MED25):c.1230+5G>C
|
rs2074057180
|
|
NM_030973.4(MED25):c.1230+6G>A
|
rs2074057196
|
|
NM_030973.4(MED25):c.1231-3C>T
|
|
|
NM_030973.4(MED25):c.1243G>A (p.Ala415Thr)
|
rs771844561
|
|
NM_030973.4(MED25):c.1244C>T (p.Ala415Val)
|
rs775141134
|
|
NM_030973.4(MED25):c.124C>T (p.Pro42Ser)
|
rs199588409
|
|
NM_030973.4(MED25):c.1250T>C (p.Val417Ala)
|
rs2123882109
|
|
NM_030973.4(MED25):c.1288C>G (p.Gln430Glu)
|
rs2074060785
|
|
NM_030973.4(MED25):c.1296C>T (p.Tyr432=)
|
|
|
NM_030973.4(MED25):c.1304A>G (p.His435Arg)
|
|
|
NM_030973.4(MED25):c.1350G>A (p.Met450Ile)
|
rs1568623987
|
|
NM_030973.4(MED25):c.1363C>A (p.Gln455Lys)
|
|
|
NM_030973.4(MED25):c.1374G>A (p.Leu458=)
|
rs2074062447
|
|
NM_030973.4(MED25):c.1388C>G (p.Pro463Arg)
|
|
|
NM_030973.4(MED25):c.1391del (p.Leu464fs)
|
|
|
NM_030973.4(MED25):c.13_36del (p.Glu6_Ser13del)
|
rs2073952891
|
|
NM_030973.4(MED25):c.140_144del (p.Phe47fs)
|
rs2123860743
|
|
NM_030973.4(MED25):c.1410G>A (p.Met470Ile)
|
|
|
NM_030973.4(MED25):c.1430A>G (p.Asn477Ser)
|
rs2074064545
|
|
NM_030973.4(MED25):c.1438del (p.Leu480fs)
|
rs2123882986
|
|
NM_030973.4(MED25):c.145G>C (p.Gly49Arg)
|
|
|
NM_030973.4(MED25):c.1483-5C>G
|
|
|
NM_030973.4(MED25):c.1501C>T (p.Pro501Ser)
|
rs2074084894
|
|
NM_030973.4(MED25):c.1504del (p.His502fs)
|
rs2123886765
|
|
NM_030973.4(MED25):c.1518_1519del (p.Cys506_Glu507delinsTer)
|
rs775019484
|
|
NM_030973.4(MED25):c.1526G>A (p.Arg509His)
|
rs1156431468
|
|
NM_030973.4(MED25):c.1559A>T (p.Lys520Met)
|
rs2074085416
|
|
NM_030973.4(MED25):c.1566_1569del (p.Phe522fs)
|
rs2074085486
|
|
NM_030973.4(MED25):c.1567A>T (p.Met523Leu)
|
rs1568625142
|
|
NM_030973.4(MED25):c.1590_1603del (p.Ser531fs)
|
rs1239980123
|
|
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser)
|
rs964471885
|
|
NM_030973.4(MED25):c.1615C>G (p.Gln539Glu)
|
|
|
NM_030973.4(MED25):c.1628_1637del (p.Asn543fs)
|
rs770792425
|
|
NM_030973.4(MED25):c.1643A>C (p.Gln548Pro)
|
rs2074086161
|
|
NM_030973.4(MED25):c.1643A>G (p.Gln548Arg)
|
rs2074086161
|
|
NM_030973.4(MED25):c.1655_1663del (p.Leu552_Gln554del)
|
rs2123887022
|
|
NM_030973.4(MED25):c.1677G>A (p.Met559Ile)
|
rs369006637
|
|
NM_030973.4(MED25):c.1677G>T (p.Met559Ile)
|
rs369006637
|
|
NM_030973.4(MED25):c.1679G>C (p.Gly560Ala)
|
|
|
NM_030973.4(MED25):c.1680_1682del (p.Gly561del)
|
|
|
NM_030973.4(MED25):c.1682G>T (p.Gly561Val)
|
rs1474701596
|
|
NM_030973.4(MED25):c.1693C>T (p.Pro565Ser)
|
|
|
NM_030973.4(MED25):c.1696_1697del (p.Pro566fs)
|
rs2074089681
|
|
NM_030973.4(MED25):c.1699G>A (p.Gly567Arg)
|
|
|
NM_030973.4(MED25):c.1702C>G (p.Leu568Val)
|
|
|
NM_030973.4(MED25):c.1703T>C (p.Leu568Pro)
|
rs2123887728
|
|
NM_030973.4(MED25):c.170T>C (p.Phe57Ser)
|
rs2073956256
|
|
NM_030973.4(MED25):c.170T>G (p.Phe57Cys)
|
|
|
NM_030973.4(MED25):c.1727C>T (p.Ala576Val)
|
rs193291405
|
|
NM_030973.4(MED25):c.1730G>A (p.Arg577Lys)
|
|
|
NM_030973.4(MED25):c.1753C>T (p.Leu585Phe)
|
|
|
NM_030973.4(MED25):c.1763C>T (p.Pro588Leu)
|
|
|
NM_030973.4(MED25):c.1767_1768delinsAT (p.Pro590Ser)
|
|
|
NM_030973.4(MED25):c.1771C>G (p.Gln591Glu)
|
rs1600331179
|
|
NM_030973.4(MED25):c.1775C>T (p.Pro592Leu)
|
|
|
NM_030973.4(MED25):c.1795_1803del (p.Ser599_Ala601del)
|
rs764613506
|
|
NM_030973.4(MED25):c.1795_1803dup (p.Ser599_Ala601dup)
|
rs764613506
|
|
NM_030973.4(MED25):c.1799G>A (p.Gly600Glu)
|
rs1188355950
|
|
NM_030973.4(MED25):c.1801del (p.Ala601fs)
|
|
|
NM_030973.4(MED25):c.1805C>T (p.Thr602Met)
|
|
|
NM_030973.4(MED25):c.1807G>A (p.Gly603Arg)
|
rs2123888223
|
|
NM_030973.4(MED25):c.1812GCCCCA[3] (p.605PQ[3])
|
rs2074092563
|
|
NM_030973.4(MED25):c.1831G>A (p.Ala611Thr)
|
rs2074092949
|
|
NM_030973.4(MED25):c.1852C>T (p.Pro618Ser)
|
rs777988894
|
|
NM_030973.4(MED25):c.1853C>T (p.Pro618Leu)
|
rs1600331387
|
|
NM_030973.4(MED25):c.1855C>A (p.Gln619Lys)
|
rs769034498
|
|
NM_030973.4(MED25):c.1885C>T (p.Pro629Ser)
|
rs1368000406
|
|
NM_030973.4(MED25):c.1888C>G (p.Pro630Ala)
|
rs900142190
|
|
NM_030973.4(MED25):c.1889C>T (p.Pro630Leu)
|
rs775342932
|
|
NM_030973.4(MED25):c.189dup (p.Thr64fs)
|
|
|
NM_030973.4(MED25):c.1910C>T (p.Pro637Leu)
|
rs764747321
|
|
NM_030973.4(MED25):c.1912C>T (p.Gln638Ter)
|
|
|
NM_030973.4(MED25):c.1915A>G (p.Asn639Asp)
|
rs776959726
|
|
NM_030973.4(MED25):c.1919del (p.Pro640fs)
|
rs1223073957
|
|
NM_030973.4(MED25):c.1934A>G (p.Gln645Arg)
|
rs1425868838
|
|
NM_030973.4(MED25):c.1951C>T (p.Leu651Phe)
|
rs2123888587
|
|
NM_030973.4(MED25):c.1952T>G (p.Leu651Arg)
|
rs878855132
|
|
NM_030973.4(MED25):c.1955A>G (p.Asn652Ser)
|
rs1051416581
|
|
NM_030973.4(MED25):c.1967C>T (p.Pro656Leu)
|
|
|
NM_030973.4(MED25):c.1972A>C (p.Thr658Pro)
|
rs1030696258
|
|
NM_030973.4(MED25):c.1975G>A (p.Gly659Arg)
|
|
|
NM_030973.4(MED25):c.1976G>T (p.Gly659Val)
|
|
|
NM_030973.4(MED25):c.1981C>G (p.Pro661Ala)
|
rs748129176
|
|
NM_030973.4(MED25):c.1991A>G (p.Gln664Arg)
|
|
|
NM_030973.4(MED25):c.2003A>C (p.His668Pro)
|
|
|
NM_030973.4(MED25):c.200G>C (p.Ser67Thr)
|
|
|
NM_030973.4(MED25):c.2026C>A (p.Pro676Thr)
|
rs1263091655
|
|
NM_030973.4(MED25):c.2028_2030del (p.Ala677del)
|
rs1600331974
|
|
NM_030973.4(MED25):c.2060G>A (p.Gly687Glu)
|
|
|
NM_030973.4(MED25):c.2065C>T (p.Pro689Ser)
|
rs1352294152
|
|
NM_030973.4(MED25):c.2068_2069del (p.Gln690fs)
|
rs2074097900
|
|
NM_030973.4(MED25):c.2070G>C (p.Gln690His)
|
|
|
NM_030973.4(MED25):c.2095C>G (p.Pro699Ala)
|
rs770600111
|
|
NM_030973.4(MED25):c.20G>T (p.Gly7Val)
|
rs2123860220
|
|
NM_030973.4(MED25):c.2132G>A (p.Arg711Gln)
|
|
|
NM_030973.4(MED25):c.2137C>T (p.Pro713Ser)
|
|
|
NM_030973.4(MED25):c.2144dup (p.Gly716fs)
|
rs1568625990
|
|
NM_030973.4(MED25):c.2147-3C>T
|
rs1555803003
|
|
NM_030973.4(MED25):c.2147G>A (p.Gly716Asp)
|
rs2074102680
|
|
NM_030973.4(MED25):c.2185C>T (p.Pro729Ser)
|
rs536619167
|
|
NM_030973.4(MED25):c.2191C>T (p.Pro731Ser)
|
rs1236215092
|
|
NM_030973.4(MED25):c.2200C>T (p.Gln734Ter)
|
rs1600332988
|
|
NM_030973.4(MED25):c.2239A>C (p.Ile747Leu)
|
rs2074103858
|
|
NM_030973.4(MED25):c.229G>C (p.Ala77Pro)
|
rs1290551836
|
|
NM_030973.4(MED25):c.23C>A (p.Pro8Gln)
|
rs980805046
|
|
NM_030973.4(MED25):c.248A>G (p.Gln83Arg)
|
rs2073964192
|
|
NM_030973.4(MED25):c.249A>C (p.Gln83His)
|
rs1291395600
|
|
NM_030973.4(MED25):c.259C>G (p.Pro87Ala)
|
|
|
NM_030973.4(MED25):c.275A>G (p.Tyr92Cys)
|
rs549136898
|
|
NM_030973.4(MED25):c.282dup (p.Val95fs)
|
rs1568618345
|
|
NM_030973.4(MED25):c.283G>A (p.Val95Ile)
|
rs1475262890
|
|
NM_030973.4(MED25):c.287C>G (p.Thr96Ser)
|
rs2123862294
|
|
NM_030973.4(MED25):c.28C>T (p.Arg10Cys)
|
|
|
NM_030973.4(MED25):c.305+14C>G
|
rs773627830
|
|
NM_030973.4(MED25):c.306-6dup
|
|
|
NM_030973.4(MED25):c.311T>C (p.Met104Thr)
|
|
|
NM_030973.4(MED25):c.314G>A (p.Gly105Asp)
|
rs1281336559
|
|
NM_030973.4(MED25):c.316G>C (p.Gly106Arg)
|
|
|
NM_030973.4(MED25):c.320G>C (p.Gly107Ala)
|
rs1448711945
|
|
NM_030973.4(MED25):c.320del (p.Gly107fs)
|
rs776360611
|
|
NM_030973.4(MED25):c.322G>A (p.Gly108Ser)
|
rs2074030164
|
|
NM_030973.4(MED25):c.330C>A (p.Ser110Arg)
|
rs898525772
|
|
NM_030973.4(MED25):c.340A>G (p.Ile114Val)
|
|
|
NM_030973.4(MED25):c.343G>A (p.Ala115Thr)
|
rs1433714797
|
|
NM_030973.4(MED25):c.367C>A (p.Gln123Lys)
|
rs764968113
|
|
NM_030973.4(MED25):c.377A>T (p.Asp126Val)
|
rs751058652
|
|
NM_030973.4(MED25):c.389A>G (p.Lys130Arg)
|
|
|
NM_030973.4(MED25):c.393_394delinsCT (p.Met131_Arg132delinsIleCys)
|
rs1555801968
|
|
NM_030973.4(MED25):c.397G>A (p.Glu133Lys)
|
|
|
NM_030973.4(MED25):c.404+4A>C
|
|
|
NM_030973.4(MED25):c.405T>C (p.Ile135=)
|
rs2123876614
|
|
NM_030973.4(MED25):c.406G>A (p.Gly136Ser)
|
|
|
NM_030973.4(MED25):c.419G>A (p.Arg140Gln)
|
rs748347831
|
|
NM_030973.4(MED25):c.421G>C (p.Val141Leu)
|
rs1398290748
|
|
NM_030973.4(MED25):c.439A>C (p.Asn147His)
|
rs2074034296
|
|
NM_030973.4(MED25):c.440A>C (p.Asn147Thr)
|
rs575908777
|
|
NM_030973.4(MED25):c.440A>G (p.Asn147Ser)
|
|
|
NM_030973.4(MED25):c.449del (p.Pro150fs)
|
rs1600323331
|
|
NM_030973.4(MED25):c.459G>T (p.Leu153Phe)
|
rs1461710400
|
|
NM_030973.4(MED25):c.475A>G (p.Thr159Ala)
|
|
|
NM_030973.4(MED25):c.506T>C (p.Leu169Pro)
|
rs2123876804
|
|
NM_030973.4(MED25):c.518T>C (p.Ile173Thr)
|
rs781753774
|
|
NM_030973.4(MED25):c.520G>A (p.Gly174Arg)
|
|
|
NM_030973.4(MED25):c.525G>A (p.Glu175=)
|
rs2074035059
|
|
NM_030973.4(MED25):c.526-3C>T
|
|
|
NM_030973.4(MED25):c.527G>A (p.Arg176Gln)
|
rs1364981975
|
|
NM_030973.4(MED25):c.544A>G (p.Ile182Val)
|
rs1568622523
|
|
NM_030973.4(MED25):c.547G>A (p.Val183Met)
|
rs1555802134
|
|
NM_030973.4(MED25):c.575G>A (p.Arg192Gln)
|
|
|
NM_030973.4(MED25):c.58T>A (p.Phe20Ile)
|
|
|
NM_030973.4(MED25):c.601C>A (p.Pro201Thr)
|
|
|
NM_030973.4(MED25):c.601C>G (p.Pro201Ala)
|
rs149611039
|
|
NM_030973.4(MED25):c.602del (p.Pro201fs)
|
rs748546983
|
|
NM_030973.4(MED25):c.602dup (p.Ala202fs)
|
rs748546983
|
|
NM_030973.4(MED25):c.61G>A (p.Val21Met)
|
rs2073953656
|
|
NM_030973.4(MED25):c.650C>T (p.Pro217Leu)
|
|
|
NM_030973.4(MED25):c.658A>T (p.Met220Leu)
|
rs905166588
|
|
NM_030973.4(MED25):c.671G>A (p.Arg224Gln)
|
|
|
NM_030973.4(MED25):c.693_695del (p.Gly233del)
|
|
|
NM_030973.4(MED25):c.703G>A (p.Ala235Thr)
|
rs2074043556
|
|
NM_030973.4(MED25):c.740del (p.Leu247fs)
|
rs2074044055
|
|
NM_030973.4(MED25):c.743C>T (p.Pro248Leu)
|
|
|
NM_030973.4(MED25):c.755C>T (p.Pro252Leu)
|
rs2074044376
|
|
NM_030973.4(MED25):c.761G>A (p.Gly254Asp)
|
rs2074044441
|
|
NM_030973.4(MED25):c.769C>T (p.Leu257Phe)
|
|
|
NM_030973.4(MED25):c.773C>T (p.Ser258Leu)
|
rs950408993
|
|
NM_030973.4(MED25):c.784C>T (p.Gln262Ter)
|
rs2074044739
|
|
NM_030973.4(MED25):c.787C>A (p.Gln263Lys)
|
|
|
NM_030973.4(MED25):c.787C>T (p.Gln263Ter)
|
rs765215168
|
|
NM_030973.4(MED25):c.794T>C (p.Leu265Pro)
|
|
|
NM_030973.4(MED25):c.801dup (p.Val268fs)
|
rs775072432
|
|
NM_030973.4(MED25):c.807_809del (p.Pro270del)
|
rs767980819
|
|
NM_030973.4(MED25):c.809C>A (p.Pro270Gln)
|
|
|
NM_030973.4(MED25):c.809C>T (p.Pro270Leu)
|
rs756463606
|
|
NM_030973.4(MED25):c.824C>T (p.Pro275Leu)
|
|
|
NM_030973.4(MED25):c.836G>A (p.Ser279Asn)
|
|
|
NM_030973.4(MED25):c.853G>A (p.Ala285Thr)
|
rs1318288681
|
|
NM_030973.4(MED25):c.854C>A (p.Ala285Glu)
|
rs191366132
|
|
NM_030973.4(MED25):c.906C>A (p.Arg302=)
|
rs1182901692
|
|
NM_030973.4(MED25):c.906C>G (p.Arg302=)
|
rs1182901692
|
|
NM_030973.4(MED25):c.906C>T (p.Arg302=)
|
rs1182901692
|
|
NM_030973.4(MED25):c.908-3_908-2del
|
rs766739944
|
|
NM_030973.4(MED25):c.918C>G (p.Ile306Met)
|
rs1447845181
|
|
NM_030973.4(MED25):c.924del (p.Leu309fs)
|
rs2074049374
|
|
NM_030973.4(MED25):c.930A>T (p.Gln310His)
|
rs2074049426
|
|
NM_030973.4(MED25):c.947T>G (p.Val316Gly)
|
|
|
NM_030973.4(MED25):c.955C>T (p.Pro319Ser)
|
rs886357105
|
|
NM_030973.4(MED25):c.956C>T (p.Pro319Leu)
|
rs139822988
|
|
NM_030973.4(MED25):c.959T>G (p.Phe320Cys)
|
rs2074049850
|
|
NM_030973.4(MED25):c.962G>C (p.Ser321Thr)
|
rs377259236
|
|
NM_030973.4(MED25):c.965A>G (p.Gln322Arg)
|
|
|
NM_030973.4(MED25):c.973G>C (p.Ala325Pro)
|
|
|
NM_030973.4(MED25):c.98A>G (p.Glu33Gly)
|
|
|