NM_015335.5(MED13L):c.3070T>C (p.Leu1024=)
|
rs1865787
|
0.15121
|
NM_015335.5(MED13L):c.5928T>C (p.Thr1976=)
|
rs2304460
|
0.14937
|
NM_015335.5(MED13L):c.2013-7C>T
|
rs199749418
|
0.12825
|
NM_015335.5(MED13L):c.6354C>T (p.Pro2118=)
|
rs3088260
|
0.06405
|
NM_015335.5(MED13L):c.579T>C (p.Asn193=)
|
rs11067880
|
0.03424
|
NM_015335.5(MED13L):c.6068-8C>T
|
rs61936939
|
0.01078
|
NM_015335.5(MED13L):c.948G>A (p.Lys316=)
|
rs61748072
|
0.01036
|
NM_015335.5(MED13L):c.1009+12C>G
|
rs113214439
|
0.00872
|
NM_015335.5(MED13L):c.4744T>A (p.Ser1582Thr)
|
rs150222863
|
0.00860
|
NM_015335.5(MED13L):c.3450C>T (p.Pro1150=)
|
rs78561507
|
0.00853
|
NM_015335.5(MED13L):c.5955C>T (p.Leu1985=)
|
rs113830913
|
0.00853
|
NM_015335.5(MED13L):c.1590C>T (p.Ala530=)
|
rs114269768
|
0.00638
|
NM_015335.5(MED13L):c.1863T>C (p.Ile621=)
|
rs61748071
|
0.00444
|
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg)
|
rs147863200
|
0.00377
|
NM_015335.5(MED13L):c.2239-16T>C
|
rs147314859
|
0.00355
|
NM_015335.5(MED13L):c.1725G>A (p.Ser575=)
|
rs77263223
|
0.00295
|
NM_015335.5(MED13L):c.1095G>A (p.Ser365=)
|
rs144327790
|
0.00284
|
NM_015335.5(MED13L):c.1283A>G (p.His428Arg)
|
rs144410580
|
0.00222
|
NM_015335.5(MED13L):c.1215T>G (p.Pro405=)
|
rs147976467
|
0.00182
|
NM_015335.5(MED13L):c.4593C>T (p.Thr1531=)
|
rs138774472
|
0.00172
|
NM_015335.5(MED13L):c.1904G>A (p.Ser635Asn)
|
rs144457722
|
0.00141
|
NM_015335.5(MED13L):c.4522C>T (p.His1508Tyr)
|
rs75575870
|
0.00136
|
NM_015335.5(MED13L):c.2056A>C (p.Lys686Gln)
|
rs139048741
|
0.00126
|
NM_015335.5(MED13L):c.5365-13G>A
|
rs187309577
|
0.00119
|
NM_015335.5(MED13L):c.6225+20C>T
|
rs146803417
|
0.00116
|
NM_015335.5(MED13L):c.3330T>C (p.Tyr1110=)
|
rs139711748
|
0.00114
|
NM_015335.5(MED13L):c.4467C>T (p.Ser1489=)
|
rs141892892
|
0.00113
|
NM_015335.5(MED13L):c.1008A>C (p.Leu336=)
|
rs150782464
|
0.00084
|
NM_015335.5(MED13L):c.1010-14G>A
|
rs368042803
|
0.00083
|
NM_015335.5(MED13L):c.771C>T (p.Asp257=)
|
rs148136300
|
0.00061
|
NM_015335.5(MED13L):c.2013-5T>C
|
rs372464585
|
0.00059
|
NM_015335.5(MED13L):c.1910G>A (p.Arg637His)
|
rs146499452
|
0.00052
|
NM_015335.5(MED13L):c.40C>T (p.Leu14=)
|
rs148454293
|
0.00048
|
NM_015335.5(MED13L):c.73-7T>C
|
rs199550041
|
0.00048
|
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile)
|
rs148416895
|
0.00046
|
NM_015335.5(MED13L):c.5809A>C (p.Ile1937Leu)
|
rs143602183
|
0.00044
|
NM_015335.5(MED13L):c.4459C>A (p.Pro1487Thr)
|
rs146112707
|
0.00041
|
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu)
|
rs112709561
|
0.00041
|
NM_015335.5(MED13L):c.2703_2705dup (p.Pro901_Met902insIle)
|
rs556713164
|
0.00035
|
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile)
|
rs142907547
|
0.00035
|
NM_015335.5(MED13L):c.1877C>T (p.Pro626Leu)
|
rs186297695
|
0.00034
|
NM_015335.5(MED13L):c.4758G>A (p.Pro1586=)
|
rs141818426
|
0.00034
|
NM_015335.5(MED13L):c.2239-7T>C
|
rs144147395
|
0.00032
|
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu)
|
rs113890513
|
0.00032
|
NM_015335.5(MED13L):c.5502C>T (p.His1834=)
|
rs200440551
|
0.00024
|
NM_015335.5(MED13L):c.5732-3C>T
|
rs370245982
|
0.00024
|
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu)
|
rs200187663
|
0.00023
|
NM_015335.5(MED13L):c.4853C>G (p.Thr1618Ser)
|
rs150339628
|
0.00023
|
NM_015335.5(MED13L):c.5559C>T (p.Thr1853=)
|
rs141451756
|
0.00020
|
NM_015335.5(MED13L):c.1316A>G (p.Asn439Ser)
|
rs189898124
|
0.00019
|
NM_015335.5(MED13L):c.201C>T (p.Asn67=)
|
rs144509091
|
0.00019
|
NM_015335.5(MED13L):c.4339-10A>G
|
rs376463996
|
0.00019
|
NM_015335.5(MED13L):c.5664A>G (p.Gln1888=)
|
rs143739741
|
0.00017
|
NM_015335.5(MED13L):c.969G>A (p.Met323Ile)
|
rs141207031
|
0.00017
|
NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser)
|
rs201987892
|
0.00016
|
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu)
|
rs537593859
|
0.00015
|
NM_015335.5(MED13L):c.3063C>T (p.Pro1021=)
|
rs142191700
|
0.00013
|
NM_015335.5(MED13L):c.3498G>T (p.Ala1166=)
|
rs200960898
|
0.00013
|
NM_015335.5(MED13L):c.4989G>A (p.Thr1663=)
|
rs755349611
|
0.00012
|
NM_015335.5(MED13L):c.2292G>A (p.Pro764=)
|
rs754150111
|
0.00011
|
NM_015335.5(MED13L):c.3079G>A (p.Ala1027Thr)
|
rs757625355
|
0.00011
|
NM_015335.5(MED13L):c.4767G>A (p.Ser1589=)
|
rs573917510
|
0.00011
|
NM_015335.5(MED13L):c.5508G>A (p.Gln1836=)
|
rs150860907
|
0.00011
|
NM_015335.5(MED13L):c.5563G>A (p.Val1855Ile)
|
rs182752795
|
0.00011
|
NM_015335.5(MED13L):c.1447C>A (p.Pro483Thr)
|
rs558160659
|
0.00010
|
NM_015335.5(MED13L):c.1970A>T (p.Asp657Val)
|
rs775442091
|
0.00010
|
NM_015335.5(MED13L):c.2682A>G (p.Ala894=)
|
rs146390612
|
0.00010
|
NM_015335.5(MED13L):c.650A>C (p.Asn217Thr)
|
rs772021396
|
0.00010
|
NM_015335.5(MED13L):c.656C>T (p.Thr219Met)
|
rs191743300
|
0.00010
|
NM_015335.5(MED13L):c.3935-12C>T
|
rs764151600
|
0.00009
|
NM_015335.5(MED13L):c.1308C>T (p.Val436=)
|
rs149631695
|
0.00008
|
NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly)
|
rs201414612
|
0.00008
|
NM_015335.5(MED13L):c.5768C>T (p.Thr1923Ile)
|
rs149651647
|
0.00008
|
NM_015335.5(MED13L):c.5890+11T>G
|
rs138264591
|
0.00008
|
NM_015335.5(MED13L):c.2035C>T (p.Arg679Trp)
|
rs368437832
|
0.00006
|
NM_015335.5(MED13L):c.3068C>T (p.Thr1023Met)
|
rs747244814
|
0.00006
|
NM_015335.5(MED13L):c.3354C>T (p.Ser1118=)
|
rs368878357
|
0.00006
|
NM_015335.5(MED13L):c.3429G>A (p.Ala1143=)
|
rs753776073
|
0.00006
|
NM_015335.5(MED13L):c.3788G>A (p.Arg1263Gln)
|
rs374506267
|
0.00006
|
NM_015335.5(MED13L):c.4868C>T (p.Ala1623Val)
|
rs201484832
|
0.00006
|
NM_015335.5(MED13L):c.5115C>T (p.Arg1705=)
|
rs370324246
|
0.00006
|
NM_015335.5(MED13L):c.5949T>C (p.Ser1983=)
|
rs755349550
|
0.00006
|
NM_015335.5(MED13L):c.6348G>A (p.Ser2116=)
|
rs769874135
|
0.00006
|
NM_015335.5(MED13L):c.6545A>G (p.Asn2182Ser)
|
rs762926166
|
0.00006
|
NM_015335.5(MED13L):c.1185A>C (p.Gln395His)
|
rs374884525
|
0.00005
|
NM_015335.5(MED13L):c.2570-7T>C
|
rs768826816
|
0.00005
|
NM_015335.5(MED13L):c.3934+3A>G
|
rs747852225
|
0.00005
|
NM_015335.5(MED13L):c.573G>C (p.Leu191Phe)
|
rs201690921
|
0.00005
|
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg)
|
rs1210016465
|
0.00004
|
NM_015335.5(MED13L):c.1503A>G (p.Gln501=)
|
rs538329234
|
0.00004
|
NM_015335.5(MED13L):c.2778C>T (p.Pro926=)
|
rs144357346
|
0.00004
|
NM_015335.5(MED13L):c.3273C>T (p.Pro1091=)
|
rs145072799
|
0.00004
|
NM_015335.5(MED13L):c.3306A>G (p.Pro1102=)
|
rs375910790
|
0.00004
|
NM_015335.5(MED13L):c.3435C>T (p.Val1145=)
|
rs568906108
|
0.00004
|
NM_015335.5(MED13L):c.4396C>T (p.Arg1466Cys)
|
rs530432287
|
0.00004
|
NM_015335.5(MED13L):c.5261T>C (p.Val1754Ala)
|
rs373887964
|
0.00004
|
NM_015335.5(MED13L):c.6522C>T (p.Asn2174=)
|
rs370692319
|
0.00004
|
NM_015335.5(MED13L):c.1124A>G (p.His375Arg)
|
rs376059806
|
0.00003
|
NM_015335.5(MED13L):c.1223A>G (p.Asn408Ser)
|
rs377207761
|
0.00003
|
NM_015335.5(MED13L):c.1390T>G (p.Ser464Ala)
|
rs769509528
|
0.00003
|
NM_015335.5(MED13L):c.1855T>G (p.Cys619Gly)
|
rs1345208839
|
0.00003
|
NM_015335.5(MED13L):c.2196A>G (p.Lys732=)
|
rs545013557
|
0.00003
|
NM_015335.5(MED13L):c.2470-13C>T
|
rs757038374
|
0.00003
|
NM_015335.5(MED13L):c.2913G>T (p.Leu971=)
|
rs201948814
|
0.00003
|
NM_015335.5(MED13L):c.3752G>A (p.Arg1251His)
|
rs142574863
|
0.00003
|
NM_015335.5(MED13L):c.3819G>A (p.Thr1273=)
|
rs542711978
|
0.00003
|
NM_015335.5(MED13L):c.4261A>G (p.Ile1421Val)
|
rs747089502
|
0.00003
|
NM_015335.5(MED13L):c.564A>G (p.Pro188=)
|
rs370983626
|
0.00003
|
NM_015335.5(MED13L):c.5850G>A (p.Leu1950=)
|
rs1482014512
|
0.00003
|
NM_015335.5(MED13L):c.626-10C>A
|
rs776407123
|
0.00003
|
NM_015335.5(MED13L):c.626-4A>G
|
rs768048151
|
0.00003
|
NM_015335.5(MED13L):c.6580G>A (p.Val2194Ile)
|
rs377611234
|
0.00003
|
NM_015335.5(MED13L):c.672A>T (p.Ala224=)
|
rs756122556
|
0.00003
|
NM_015335.5(MED13L):c.72+10C>T
|
rs779448093
|
0.00003
|
NM_015335.5(MED13L):c.1765C>T (p.Leu589Phe)
|
rs372595490
|
0.00002
|
NM_015335.5(MED13L):c.2351G>A (p.Arg784Gln)
|
rs749407155
|
0.00002
|
NM_015335.5(MED13L):c.3069G>A (p.Thr1023=)
|
rs780149328
|
0.00002
|
NM_015335.5(MED13L):c.4269G>T (p.Val1423=)
|
rs997965874
|
0.00002
|
NM_015335.5(MED13L):c.4353G>A (p.Gly1451=)
|
rs563931035
|
0.00002
|
NM_015335.5(MED13L):c.4788T>A (p.Ile1596=)
|
rs757338321
|
0.00002
|
NM_015335.5(MED13L):c.479+18T>C
|
rs200912170
|
0.00002
|
NM_015335.5(MED13L):c.5058G>A (p.Thr1686=)
|
rs74757206
|
0.00002
|
NM_015335.5(MED13L):c.5162C>T (p.Ser1721Phe)
|
rs755513948
|
0.00002
|
NM_015335.5(MED13L):c.5471A>G (p.Asn1824Ser)
|
rs763491465
|
0.00002
|
NM_015335.5(MED13L):c.6486G>A (p.Thr2162=)
|
rs763493523
|
0.00002
|
NM_015335.5(MED13L):c.6549G>A (p.Pro2183=)
|
rs768288594
|
0.00002
|
NM_015335.5(MED13L):c.1091G>A (p.Arg364Lys)
|
rs993003177
|
0.00001
|
NM_015335.5(MED13L):c.1175+5G>A
|
rs567368642
|
0.00001
|
NM_015335.5(MED13L):c.1198A>G (p.Thr400Ala)
|
rs143469047
|
0.00001
|
NM_015335.5(MED13L):c.1309G>A (p.Gly437Arg)
|
rs1478066317
|
0.00001
|
NM_015335.5(MED13L):c.1385C>T (p.Pro462Leu)
|
rs772715909
|
0.00001
|
NM_015335.5(MED13L):c.1525G>A (p.Gly509Arg)
|
rs1427629915
|
0.00001
|
NM_015335.5(MED13L):c.1654A>G (p.Ile552Val)
|
rs371805787
|
0.00001
|
NM_015335.5(MED13L):c.1859G>A (p.Gly620Glu)
|
rs780566155
|
0.00001
|
NM_015335.5(MED13L):c.1924G>C (p.Asp642His)
|
rs375037374
|
0.00001
|
NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe)
|
rs752891084
|
0.00001
|
NM_015335.5(MED13L):c.2075C>G (p.Pro692Arg)
|
rs781324695
|
0.00001
|
NM_015335.5(MED13L):c.2117G>A (p.Gly706Glu)
|
rs200257416
|
0.00001
|
NM_015335.5(MED13L):c.2211G>A (p.Thr737=)
|
rs747879843
|
0.00001
|
NM_015335.5(MED13L):c.2350C>T (p.Arg784Trp)
|
rs757359386
|
0.00001
|
NM_015335.5(MED13L):c.2468G>A (p.Gly823Glu)
|
rs1879015895
|
0.00001
|
NM_015335.5(MED13L):c.2488C>T (p.Arg830Cys)
|
rs375719087
|
0.00001
|
NM_015335.5(MED13L):c.2570-11C>G
|
rs765381458
|
0.00001
|
NM_015335.5(MED13L):c.2791-3C>T
|
rs768223325
|
0.00001
|
NM_015335.5(MED13L):c.2812G>A (p.Val938Ile)
|
rs750422287
|
0.00001
|
NM_015335.5(MED13L):c.2871G>A (p.Pro957=)
|
rs771187948
|
0.00001
|
NM_015335.5(MED13L):c.3000C>T (p.Asn1000=)
|
rs775221277
|
0.00001
|
NM_015335.5(MED13L):c.3355G>A (p.Val1119Met)
|
rs574079603
|
0.00001
|
NM_015335.5(MED13L):c.3606G>A (p.Met1202Ile)
|
rs752751372
|
0.00001
|
NM_015335.5(MED13L):c.360G>A (p.Thr120=)
|
rs534984622
|
0.00001
|
NM_015335.5(MED13L):c.3714T>G (p.Ala1238=)
|
rs749014322
|
0.00001
|
NM_015335.5(MED13L):c.3818C>T (p.Thr1273Met)
|
rs775807063
|
0.00001
|
NM_015335.5(MED13L):c.3834G>A (p.Ala1278=)
|
rs145466664
|
0.00001
|
NM_015335.5(MED13L):c.4265T>C (p.Val1422Ala)
|
rs780657499
|
0.00001
|
NM_015335.5(MED13L):c.4275A>G (p.Pro1425=)
|
rs112942800
|
0.00001
|
NM_015335.5(MED13L):c.4294G>A (p.Glu1432Lys)
|
rs758950766
|
0.00001
|
NM_015335.5(MED13L):c.4368C>T (p.Ile1456=)
|
rs1592915963
|
0.00001
|
NM_015335.5(MED13L):c.4386C>T (p.Asp1462=)
|
rs760971347
|
0.00001
|
NM_015335.5(MED13L):c.4471G>A (p.Glu1491Lys)
|
rs757111256
|
0.00001
|
NM_015335.5(MED13L):c.4508C>T (p.Ala1503Val)
|
rs775785751
|
0.00001
|
NM_015335.5(MED13L):c.451G>A (p.Glu151Lys)
|
rs773315749
|
0.00001
|
NM_015335.5(MED13L):c.4607C>T (p.Ala1536Val)
|
rs527644823
|
0.00001
|
NM_015335.5(MED13L):c.473A>G (p.Asn158Ser)
|
rs781607336
|
0.00001
|
NM_015335.5(MED13L):c.4839G>A (p.Gly1613=)
|
rs754275970
|
0.00001
|
NM_015335.5(MED13L):c.4859G>A (p.Gly1620Asp)
|
rs775899433
|
0.00001
|
NM_015335.5(MED13L):c.4880A>G (p.Gln1627Arg)
|
rs752932375
|
0.00001
|
NM_015335.5(MED13L):c.4907C>T (p.Thr1636Ile)
|
rs140287114
|
0.00001
|
NM_015335.5(MED13L):c.4956-10C>G
|
rs1060504701
|
0.00001
|
NM_015335.5(MED13L):c.4956-5T>A
|
rs771118133
|
0.00001
|
NM_015335.5(MED13L):c.4988C>T (p.Thr1663Met)
|
rs142102185
|
0.00001
|
NM_015335.5(MED13L):c.5052G>A (p.Pro1684=)
|
rs753488932
|
0.00001
|
NM_015335.5(MED13L):c.5376A>G (p.Pro1792=)
|
rs779527731
|
0.00001
|
NM_015335.5(MED13L):c.5409C>T (p.Ala1803=)
|
rs756949902
|
0.00001
|
NM_015335.5(MED13L):c.546G>A (p.Glu182=)
|
rs781132536
|
0.00001
|
NM_015335.5(MED13L):c.5615G>A (p.Arg1872His)
|
rs28940310
|
0.00001
|
NM_015335.5(MED13L):c.57C>A (p.Ser19=)
|
rs1060504702
|
0.00001
|
NM_015335.5(MED13L):c.6318T>C (p.Ala2106=)
|
rs1258835287
|
0.00001
|
NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu)
|
rs774432060
|
0.00001
|
NM_015335.5(MED13L):c.731C>T (p.Pro244Leu)
|
rs775015157
|
0.00001
|
NM_015335.5(MED13L):c.805G>A (p.Val269Ile)
|
rs1879944991
|
0.00001
|
NM_015335.5(MED13L):c.861C>A (p.Ile287=)
|
rs61756230
|
0.00001
|
NM_015335.5(MED13L):c.879G>A (p.Pro293=)
|
rs140586744
|
0.00001
|
NC_000012.11:g.(?_116418535)_(116420428_?)del
|
|
|
NC_000012.11:g.(?_116534454)_(116534577_?)del
|
|
|
NC_000012.11:g.(?_116534454)_(116549337_?)del
|
|
|
NC_000012.12:g.(?_115961246)_(116096772_?)del
|
|
|
NM_015335.4(MED13L):c.3519_3521delinsT (p.Tyr1174fs)
|
rs1565997261
|
|
NM_015335.5(MED13L):c.1003A>G (p.Ile335Val)
|
|
|
NM_015335.5(MED13L):c.1010-12C>T
|
|
|
NM_015335.5(MED13L):c.1010-4dup
|
rs771044608
|
|
NM_015335.5(MED13L):c.1010-6T>G
|
|
|
NM_015335.5(MED13L):c.1036G>C (p.Ala346Pro)
|
|
|
NM_015335.5(MED13L):c.1044C>T (p.His348=)
|
rs778123143
|
|
NM_015335.5(MED13L):c.1059T>C (p.Asp353=)
|
rs1592949351
|
|
NM_015335.5(MED13L):c.1064G>A (p.Gly355Glu)
|
|
|
NM_015335.5(MED13L):c.106A>G (p.Asn36Asp)
|
|
|
NM_015335.5(MED13L):c.1073C>T (p.Thr358Met)
|
|
|
NM_015335.5(MED13L):c.1076T>C (p.Met359Thr)
|
|
|
NM_015335.5(MED13L):c.107A>G (p.Asn36Ser)
|
|
|
NM_015335.5(MED13L):c.1086A>G (p.Pro362=)
|
rs2137415289
|
|
NM_015335.5(MED13L):c.1128G>A (p.Met376Ile)
|
|
|
NM_015335.5(MED13L):c.1135C>T (p.Arg379Ter)
|
|
|
NM_015335.5(MED13L):c.1136G>A (p.Arg379Gln)
|
|
|
NM_015335.5(MED13L):c.1164A>G (p.Arg388=)
|
rs1566011405
|
|
NM_015335.5(MED13L):c.1175+12C>T
|
|
|
NM_015335.5(MED13L):c.1176-1G>A
|
rs1566010195
|
|
NM_015335.5(MED13L):c.1176-3T>C
|
|
|
NM_015335.5(MED13L):c.1176-9C>A
|
|
|
NM_015335.5(MED13L):c.1192A>C (p.Thr398Pro)
|
|
|
NM_015335.5(MED13L):c.119A>G (p.His40Arg)
|
|
|
NM_015335.5(MED13L):c.124G>T (p.Asp42Tyr)
|
rs1247142719
|
|
NM_015335.5(MED13L):c.1260A>C (p.Arg420Ser)
|
rs768900677
|
|
NM_015335.5(MED13L):c.1271C>A (p.Ser424Tyr)
|
|
|
NM_015335.5(MED13L):c.1280+11A>G
|
|
|
NM_015335.5(MED13L):c.1280G>A (p.Arg427Lys)
|
|
|
NM_015335.5(MED13L):c.1281-17G>A
|
|
|
NM_015335.5(MED13L):c.1297C>T (p.Arg433Cys)
|
|
|
NM_015335.5(MED13L):c.1298G>A (p.Arg433His)
|
|
|
NM_015335.5(MED13L):c.1300_1302del (p.Cys434del)
|
|
|
NM_015335.5(MED13L):c.1319G>A (p.Arg440Gln)
|
|
|
NM_015335.5(MED13L):c.1328C>T (p.Thr443Ile)
|
|
|
NM_015335.5(MED13L):c.1344G>A (p.Gly448=)
|
|
|
NM_015335.5(MED13L):c.1349G>T (p.Ser450Ile)
|
|
|
NM_015335.5(MED13L):c.134C>G (p.Pro45Arg)
|
|
|
NM_015335.5(MED13L):c.1355G>C (p.Gly452Ala)
|
|
|
NM_015335.5(MED13L):c.1362A>G (p.Ser454=)
|
|
|
NM_015335.5(MED13L):c.1390TCT[1] (p.Ser465del)
|
|
|
NM_015335.5(MED13L):c.1394C>T (p.Ser465Phe)
|
|
|
NM_015335.5(MED13L):c.1396A>C (p.Lys466Gln)
|
|
|
NM_015335.5(MED13L):c.1405dup (p.Thr469fs)
|
rs2137386388
|
|
NM_015335.5(MED13L):c.1406C>T (p.Thr469Ile)
|
|
|
NM_015335.5(MED13L):c.1423A>G (p.Lys475Glu)
|
rs1879225158
|
|
NM_015335.5(MED13L):c.147C>A (p.Ala49=)
|
|
|
NM_015335.5(MED13L):c.1482C>T (p.Ala494=)
|
|
|
NM_015335.5(MED13L):c.1483G>A (p.Glu495Lys)
|
|
|
NM_015335.5(MED13L):c.1486G>T (p.Glu496Ter)
|
|
|
NM_015335.5(MED13L):c.1508C>T (p.Thr503Ile)
|
|
|
NM_015335.5(MED13L):c.150A>T (p.Pro50=)
|
rs778797919
|
|
NM_015335.5(MED13L):c.1543T>G (p.Ser515Ala)
|
rs777986630
|
|
NM_015335.5(MED13L):c.1551A>C (p.Leu517Phe)
|
|
|
NM_015335.5(MED13L):c.1551A>T (p.Leu517Phe)
|
|
|
NM_015335.5(MED13L):c.1563C>T (p.Ser521=)
|
|
|
NM_015335.5(MED13L):c.1589C>T (p.Ala530Val)
|
|
|
NM_015335.5(MED13L):c.1617A>C (p.Gln539His)
|
|
|
NM_015335.5(MED13L):c.1617A>G (p.Gln539=)
|
|
|
NM_015335.5(MED13L):c.1629T>A (p.Asn543Lys)
|
|
|
NM_015335.5(MED13L):c.1637A>G (p.Asp546Gly)
|
|
|
NM_015335.5(MED13L):c.1649C>G (p.Ser550Cys)
|
|
|
NM_015335.5(MED13L):c.1650C>G (p.Ser550=)
|
|
|
NM_015335.5(MED13L):c.1658C>A (p.Ser553Tyr)
|
|
|
NM_015335.5(MED13L):c.166A>G (p.Ile56Val)
|
|
|
NM_015335.5(MED13L):c.1689A>T (p.Pro563=)
|
|
|
NM_015335.5(MED13L):c.1722A>G (p.Pro574=)
|
|
|
NM_015335.5(MED13L):c.1724C>T (p.Ser575Leu)
|
rs377144746
|
|
NM_015335.5(MED13L):c.1728C>T (p.Val576=)
|
|
|
NM_015335.5(MED13L):c.1758A>T (p.Gly586=)
|
|
|
NM_015335.5(MED13L):c.1773G>A (p.Gln591=)
|
rs3741768
|
|
NM_015335.5(MED13L):c.1780A>G (p.Thr594Ala)
|
|
|
NM_015335.5(MED13L):c.1784T>C (p.Leu595Pro)
|
rs750811062
|
|
NM_015335.5(MED13L):c.1785G>C (p.Leu595=)
|
rs1592942104
|
|
NM_015335.5(MED13L):c.1797T>C (p.Thr599=)
|
|
|
NM_015335.5(MED13L):c.1803C>T (p.Leu601=)
|
|
|
NM_015335.5(MED13L):c.1804G>A (p.Val602Ile)
|
|
|
NM_015335.5(MED13L):c.1814G>A (p.Arg605Lys)
|
|
|
NM_015335.5(MED13L):c.1828G>T (p.Ala610Ser)
|
|
|
NM_015335.5(MED13L):c.1839C>T (p.Ser613=)
|
|
|
NM_015335.5(MED13L):c.1840G>A (p.Glu614Lys)
|
|
|
NM_015335.5(MED13L):c.1853A>G (p.Tyr618Cys)
|
|
|
NM_015335.5(MED13L):c.1861A>G (p.Ile621Val)
|
|
|
NM_015335.5(MED13L):c.1871C>T (p.Ser624Leu)
|
|
|
NM_015335.5(MED13L):c.1884A>T (p.Ser628=)
|
|
|
NM_015335.5(MED13L):c.1897T>G (p.Trp633Gly)
|
|
|
NM_015335.5(MED13L):c.1914C>T (p.Leu638=)
|
rs1279215396
|
|
NM_015335.5(MED13L):c.1928A>G (p.Asp643Gly)
|
rs1344076513
|
|
NM_015335.5(MED13L):c.192G>C (p.Leu64=)
|
|
|
NM_015335.5(MED13L):c.1969G>A (p.Asp657Asn)
|
rs760771799
|
|
NM_015335.5(MED13L):c.1973C>T (p.Ala658Val)
|
|
|
NM_015335.5(MED13L):c.1975A>G (p.Lys659Glu)
|
|
|
NM_015335.5(MED13L):c.1999A>G (p.Thr667Ala)
|
|
|
NM_015335.5(MED13L):c.2012+10CT[2]
|
rs564143152
|
|
NM_015335.5(MED13L):c.2012+12C>G
|
|
|
NM_015335.5(MED13L):c.2013-10_2013-9insTG
|
rs1555247737
|
|
NM_015335.5(MED13L):c.2013-10_2013-9insTTG
|
|
|
NM_015335.5(MED13L):c.2013-8_2013-7insTTTTTTTTTTTTTTTTTT
|
rs771649019
|
|
NM_015335.5(MED13L):c.2013-9dup
|
|
|
NM_015335.5(MED13L):c.2014C>T (p.Leu672Phe)
|
rs753868437
|
|
NM_015335.5(MED13L):c.2022A>C (p.Ala674=)
|
|
|
NM_015335.5(MED13L):c.2036G>A (p.Arg679Gln)
|
rs1366343903
|
|
NM_015335.5(MED13L):c.2056A>G (p.Lys686Glu)
|
|
|
NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter)
|
rs2137378964
|
|
NM_015335.5(MED13L):c.2081A>G (p.His694Arg)
|
|
|
NM_015335.5(MED13L):c.2097G>A (p.Leu699=)
|
|
|
NM_015335.5(MED13L):c.2109A>G (p.Gln703=)
|
|
|
NM_015335.5(MED13L):c.2110C>T (p.Gln704Ter)
|
|
|
NM_015335.5(MED13L):c.211G>A (p.Val71Ile)
|
|
|
NM_015335.5(MED13L):c.2175C>T (p.Tyr725=)
|
|
|
NM_015335.5(MED13L):c.2183C>T (p.Thr728Ile)
|
|
|
NM_015335.5(MED13L):c.2197T>A (p.Cys733Ser)
|
|
|
NM_015335.5(MED13L):c.2220T>G (p.Asp740Glu)
|
|
|
NM_015335.5(MED13L):c.2222C>G (p.Ser741Cys)
|
|
|
NM_015335.5(MED13L):c.2226G>C (p.Leu742=)
|
|
|
NM_015335.5(MED13L):c.2238+13A>T
|
|
|
NM_015335.5(MED13L):c.2238+13dup
|
|
|
NM_015335.5(MED13L):c.2239-3_2239-2del
|
|
|
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu)
|
rs368050346
|
|
NM_015335.5(MED13L):c.2260A>G (p.Lys754Glu)
|
|
|
NM_015335.5(MED13L):c.2268C>G (p.Val756=)
|
|
|
NM_015335.5(MED13L):c.2282A>G (p.His761Arg)
|
|
|
NM_015335.5(MED13L):c.2289G>T (p.Thr763=)
|
|
|
NM_015335.5(MED13L):c.230A>G (p.Lys77Arg)
|
|
|
NM_015335.5(MED13L):c.2311G>A (p.Ala771Thr)
|
|
|
NM_015335.5(MED13L):c.2316_2317del (p.Met772fs)
|
rs1566005476
|
|
NM_015335.5(MED13L):c.2320A>G (p.Ile774Val)
|
|
|
NM_015335.5(MED13L):c.2344+13A>G
|
|
|
NM_015335.5(MED13L):c.2345-8T>G
|
|
|
NM_015335.5(MED13L):c.2352G>A (p.Arg784=)
|
rs1226259653
|
|
NM_015335.5(MED13L):c.2352G>T (p.Arg784=)
|
rs1226259653
|
|
NM_015335.5(MED13L):c.2354A>T (p.Gln785Leu)
|
rs1555247342
|
|
NM_015335.5(MED13L):c.2375C>G (p.Ala792Gly)
|
|
|
NM_015335.5(MED13L):c.240C>T (p.Cys80=)
|
rs1593196040
|
|
NM_015335.5(MED13L):c.2465T>G (p.Leu822Arg)
|
|
|
NM_015335.5(MED13L):c.2469+11C>T
|
|
|
NM_015335.5(MED13L):c.2469+18A>G
|
|
|
NM_015335.5(MED13L):c.2470-12G>A
|
|
|
NM_015335.5(MED13L):c.2470-15A>G
|
|
|
NM_015335.5(MED13L):c.2470-20A>G
|
|
|
NM_015335.5(MED13L):c.2483C>T (p.Ala828Val)
|
|
|
NM_015335.5(MED13L):c.2485C>T (p.Leu829=)
|
|
|
NM_015335.5(MED13L):c.2489G>A (p.Arg830His)
|
|
|
NM_015335.5(MED13L):c.2509G>T (p.Val837Phe)
|
|
|
NM_015335.5(MED13L):c.2523C>T (p.Asp841=)
|
|
|
NM_015335.5(MED13L):c.2530C>T (p.Leu844Phe)
|
|
|
NM_015335.5(MED13L):c.2558C>T (p.Pro853Leu)
|
|
|
NM_015335.5(MED13L):c.2569+16T>A
|
|
|
NM_015335.5(MED13L):c.2570-14T>C
|
|
|
NM_015335.5(MED13L):c.2570-15A>T
|
|
|
NM_015335.5(MED13L):c.2570-8A>T
|
|
|
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly)
|
rs1555246154
|
|
NM_015335.5(MED13L):c.2581T>C (p.Leu861=)
|
rs1592930332
|
|
NM_015335.5(MED13L):c.2585A>C (p.Gln862Pro)
|
|
|
NM_015335.5(MED13L):c.2604A>G (p.Pro868=)
|
rs772409015
|
|
NM_015335.5(MED13L):c.2621A>C (p.His874Pro)
|
|
|
NM_015335.5(MED13L):c.263G>A (p.Trp88Ter)
|
rs1870202051
|
|
NM_015335.5(MED13L):c.2648A>G (p.Tyr883Cys)
|
|
|
NM_015335.5(MED13L):c.2662A>G (p.Ser888Gly)
|
|
|
NM_015335.5(MED13L):c.2705T>C (p.Met902Thr)
|
|
|
NM_015335.5(MED13L):c.2713A>C (p.Met905Leu)
|
|
|
NM_015335.5(MED13L):c.2744T>C (p.Met915Thr)
|
|
|
NM_015335.5(MED13L):c.277A>G (p.Asn93Asp)
|
|
|
NM_015335.5(MED13L):c.278A>G (p.Asn93Ser)
|
|
|
NM_015335.5(MED13L):c.2790+11A>G
|
|
|
NM_015335.5(MED13L):c.2790+12T>C
|
|
|
NM_015335.5(MED13L):c.2790+18A>G
|
|
|
NM_015335.5(MED13L):c.2809A>C (p.Lys937Gln)
|
|
|
NM_015335.5(MED13L):c.2818T>C (p.Ser940Pro)
|
|
|
NM_015335.5(MED13L):c.2824C>G (p.Gln942Glu)
|
|
|
NM_015335.5(MED13L):c.2826A>G (p.Gln942=)
|
|
|
NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu)
|
rs764385703
|
|
NM_015335.5(MED13L):c.2834T>C (p.Val945Ala)
|
|
|
NM_015335.5(MED13L):c.2845A>G (p.Met949Val)
|
|
|
NM_015335.5(MED13L):c.2854C>T (p.Pro952Ser)
|
|
|
NM_015335.5(MED13L):c.2868G>A (p.Leu956=)
|
|
|
NM_015335.5(MED13L):c.2886A>C (p.Leu962=)
|
|
|
NM_015335.5(MED13L):c.2911C>T (p.Leu971=)
|
rs2137328447
|
|
NM_015335.5(MED13L):c.2918G>A (p.Arg973Gln)
|
|
|
NM_015335.5(MED13L):c.2925A>G (p.Ser975=)
|
|
|
NM_015335.5(MED13L):c.2925A>T (p.Ser975=)
|
|
|
NM_015335.5(MED13L):c.2932A>G (p.Ile978Val)
|
|
|
NM_015335.5(MED13L):c.2959A>G (p.Met987Val)
|
|
|
NM_015335.5(MED13L):c.2965C>G (p.Pro989Ala)
|
|
|
NM_015335.5(MED13L):c.2996+7A>G
|
|
|
NM_015335.5(MED13L):c.2996A>G (p.Asn999Ser)
|
|
|
NM_015335.5(MED13L):c.2997-11T>G
|
|
|
NM_015335.5(MED13L):c.3015G>C (p.Gly1005=)
|
|
|
NM_015335.5(MED13L):c.3018C>T (p.Ser1006=)
|
|
|
NM_015335.5(MED13L):c.3064G>A (p.Val1022Met)
|
|
|
NM_015335.5(MED13L):c.3078C>T (p.Ser1026=)
|
|
|
NM_015335.5(MED13L):c.3095A>G (p.Asn1032Ser)
|
|
|
NM_015335.5(MED13L):c.311-10_311-4del
|
|
|
NM_015335.5(MED13L):c.311-20T>C
|
|
|
NM_015335.5(MED13L):c.311-21_311-16del
|
|
|
NM_015335.5(MED13L):c.311-4dup
|
rs150398214
|
|
NM_015335.5(MED13L):c.3114A>G (p.Leu1038=)
|
|
|
NM_015335.5(MED13L):c.3123A>C (p.Pro1041=)
|
|
|
NM_015335.5(MED13L):c.3165G>A (p.Arg1055=)
|
|
|
NM_015335.5(MED13L):c.3207A>G (p.Gln1069=)
|
|
|
NM_015335.5(MED13L):c.3213T>C (p.Ser1071=)
|
|
|
NM_015335.5(MED13L):c.3231C>T (p.Thr1077=)
|
|
|
NM_015335.5(MED13L):c.3255C>T (p.Thr1085=)
|
|
|
NM_015335.5(MED13L):c.3258C>G (p.Pro1086=)
|
|
|
NM_015335.5(MED13L):c.3265A>G (p.Thr1089Ala)
|
|
|
NM_015335.5(MED13L):c.327C>T (p.Leu109=)
|
|
|
NM_015335.5(MED13L):c.3285G>A (p.Val1095=)
|
|
|
NM_015335.5(MED13L):c.3290C>T (p.Pro1097Leu)
|
|
|
NM_015335.5(MED13L):c.3292G>A (p.Ala1098Thr)
|
|
|
NM_015335.5(MED13L):c.3295A>G (p.Thr1099Ala)
|
|
|
NM_015335.5(MED13L):c.3327C>T (p.Leu1109=)
|
|
|
NM_015335.5(MED13L):c.3336C>T (p.Thr1112=)
|
|
|
NM_015335.5(MED13L):c.3343C>A (p.Leu1115Ile)
|
|
|
NM_015335.5(MED13L):c.3347C>A (p.Ser1116Tyr)
|
rs1878063256
|
|
NM_015335.5(MED13L):c.3369T>C (p.Phe1123=)
|
|
|
NM_015335.5(MED13L):c.3381del (p.Phe1128fs)
|
|
|
NM_015335.5(MED13L):c.3396C>T (p.Cys1132=)
|
|
|
NM_015335.5(MED13L):c.3428C>T (p.Ala1143Val)
|
rs763939921
|
|
NM_015335.5(MED13L):c.3450C>A (p.Pro1150=)
|
|
|
NM_015335.5(MED13L):c.3476G>A (p.Arg1159His)
|
|
|
NM_015335.5(MED13L):c.3479G>A (p.Cys1160Tyr)
|
rs1565997289
|
|
NM_015335.5(MED13L):c.3495T>C (p.Ser1165=)
|
|
|
NM_015335.5(MED13L):c.3498G>A (p.Ala1166=)
|
rs200960898
|
|
NM_015335.5(MED13L):c.3522C>T (p.Tyr1174=)
|
|
|
NM_015335.5(MED13L):c.3578T>C (p.Ile1193Thr)
|
|
|
NM_015335.5(MED13L):c.3586G>A (p.Ala1196Thr)
|
|
|
NM_015335.5(MED13L):c.3590C>T (p.Ala1197Val)
|
|
|
NM_015335.5(MED13L):c.3595A>G (p.Arg1199Gly)
|
|
|
NM_015335.5(MED13L):c.3598C>T (p.Arg1200Cys)
|
|
|
NM_015335.5(MED13L):c.359C>T (p.Thr120Met)
|
|
|
NM_015335.5(MED13L):c.3645C>T (p.Thr1215=)
|
|
|
NM_015335.5(MED13L):c.3647A>G (p.Lys1216Arg)
|
|
|
NM_015335.5(MED13L):c.3658G>A (p.Glu1220Lys)
|
|
|
NM_015335.5(MED13L):c.3659A>G (p.Glu1220Gly)
|
|
|
NM_015335.5(MED13L):c.3667A>G (p.Ile1223Val)
|
rs1878044534
|
|
NM_015335.5(MED13L):c.3677TCC[3] (p.Leu1229del)
|
|
|
NM_015335.5(MED13L):c.3682C>T (p.Leu1228Phe)
|
|
|
NM_015335.5(MED13L):c.3694C>A (p.Gln1232Lys)
|
|
|
NM_015335.5(MED13L):c.36G>A (p.Ala12=)
|
|
|
NM_015335.5(MED13L):c.3700A>G (p.Thr1234Ala)
|
|
|
NM_015335.5(MED13L):c.3706C>A (p.Pro1236Thr)
|
|
|
NM_015335.5(MED13L):c.3726C>T (p.Phe1242=)
|
rs1422363356
|
|
NM_015335.5(MED13L):c.3734A>G (p.Tyr1245Cys)
|
rs1878039306
|
|
NM_015335.5(MED13L):c.3741C>T (p.Ser1247=)
|
|
|
NM_015335.5(MED13L):c.3743C>G (p.Ser1248Cys)
|
|
|
NM_015335.5(MED13L):c.3751C>T (p.Arg1251Cys)
|
|
|
NM_015335.5(MED13L):c.3779del (p.Ser1260fs)
|
|
|
NM_015335.5(MED13L):c.3783T>C (p.Tyr1261=)
|
|
|
NM_015335.5(MED13L):c.3787C>T (p.Arg1263Trp)
|
|
|
NM_015335.5(MED13L):c.3789G>C (p.Arg1263=)
|
|
|
NM_015335.5(MED13L):c.3801T>A (p.Asp1267Glu)
|
|
|
NM_015335.5(MED13L):c.3848G>A (p.Arg1283Gln)
|
|
|
NM_015335.5(MED13L):c.3882G>A (p.Val1294=)
|
|
|
NM_015335.5(MED13L):c.3885C>T (p.Asp1295=)
|
|
|
NM_015335.5(MED13L):c.3927C>T (p.His1309=)
|
|
|
NM_015335.5(MED13L):c.3929G>A (p.Ser1310Asn)
|
|
|
NM_015335.5(MED13L):c.3930C>T (p.Ser1310=)
|
|
|
NM_015335.5(MED13L):c.3935-1G>A
|
rs1565995146
|
|
NM_015335.5(MED13L):c.3935-9C>A
|
|
|
NM_015335.5(MED13L):c.395+8A>G
|
|
|
NM_015335.5(MED13L):c.395+9A>G
|
|
|
NM_015335.5(MED13L):c.3954C>T (p.Leu1318=)
|
|
|
NM_015335.5(MED13L):c.396-14T>C
|
|
|
NM_015335.5(MED13L):c.3960C>T (p.Ser1320=)
|
|
|
NM_015335.5(MED13L):c.4002C>G (p.Leu1334=)
|
rs772069193
|
|
NM_015335.5(MED13L):c.4004A>G (p.Gln1335Arg)
|
|
|
NM_015335.5(MED13L):c.401T>C (p.Leu134Pro)
|
rs1565875400
|
|
NM_015335.5(MED13L):c.4025G>A (p.Arg1342His)
|
|
|
NM_015335.5(MED13L):c.4065A>G (p.Gly1355=)
|
|
|
NM_015335.5(MED13L):c.4077G>A (p.Trp1359Ter)
|
rs1565995034
|
|
NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala)
|
rs1877746863
|
|
NM_015335.5(MED13L):c.4113C>T (p.Tyr1371=)
|
|
|
NM_015335.5(MED13L):c.4114+17G>A
|
|
|
NM_015335.5(MED13L):c.4114+8C>A
|
|
|
NM_015335.5(MED13L):c.4114+8C>G
|
|
|
NM_015335.5(MED13L):c.4115-10G>C
|
rs1031922673
|
|
NM_015335.5(MED13L):c.4115-18A>G
|
|
|
NM_015335.5(MED13L):c.4119G>A (p.Ser1373=)
|
|
|
NM_015335.5(MED13L):c.4137G>A (p.Pro1379=)
|
|
|
NM_015335.5(MED13L):c.4144A>G (p.Ile1382Val)
|
|
|
NM_015335.5(MED13L):c.4158G>C (p.Leu1386=)
|
rs2137287371
|
|
NM_015335.5(MED13L):c.4160T>C (p.Val1387Ala)
|
|
|
NM_015335.5(MED13L):c.4161A>G (p.Val1387=)
|
|
|
NM_015335.5(MED13L):c.4166A>G (p.Tyr1389Cys)
|
|
|
NM_015335.5(MED13L):c.4191G>A (p.Ser1397=)
|
|
|
NM_015335.5(MED13L):c.4206G>A (p.Pro1402=)
|
|
|
NM_015335.5(MED13L):c.4217G>A (p.Arg1406Lys)
|
|
|
NM_015335.5(MED13L):c.4247G>A (p.Arg1416His)
|
|
|
NM_015335.5(MED13L):c.4277A>G (p.Glu1426Gly)
|
|
|
NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter)
|
rs1877685759
|
|
NM_015335.5(MED13L):c.4319A>G (p.Asp1440Gly)
|
|
|
NM_015335.5(MED13L):c.4328C>A (p.Ala1443Asp)
|
|
|
NM_015335.5(MED13L):c.4330G>A (p.Val1444Ile)
|
|
|
NM_015335.5(MED13L):c.4339-20G>T
|
|
|
NM_015335.5(MED13L):c.4339-9T>C
|
|
|
NM_015335.5(MED13L):c.4342T>G (p.Cys1448Gly)
|
|
|
NM_015335.5(MED13L):c.4347G>A (p.Arg1449=)
|
|
|
NM_015335.5(MED13L):c.437T>A (p.Phe146Tyr)
|
|
|
NM_015335.5(MED13L):c.4382G>A (p.Arg1461His)
|
|
|
NM_015335.5(MED13L):c.4405A>G (p.Lys1469Glu)
|
|
|
NM_015335.5(MED13L):c.4458G>A (p.Gln1486=)
|
|
|
NM_015335.5(MED13L):c.4461T>G (p.Pro1487=)
|
|
|
NM_015335.5(MED13L):c.4484A>G (p.Asn1495Ser)
|
|
|
NM_015335.5(MED13L):c.4509G>T (p.Ala1503=)
|
|
|
NM_015335.5(MED13L):c.4519C>T (p.Arg1507Cys)
|
|
|
NM_015335.5(MED13L):c.4520G>A (p.Arg1507His)
|
|
|
NM_015335.5(MED13L):c.4525C>T (p.His1509Tyr)
|
|
|
NM_015335.5(MED13L):c.4531+17T>C
|
|
|
NM_015335.5(MED13L):c.4532-20C>G
|
|
|
NM_015335.5(MED13L):c.4569A>G (p.Leu1523=)
|
|
|
NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala)
|
rs752521430
|
|
NM_015335.5(MED13L):c.4599A>G (p.Pro1533=)
|
|
|
NM_015335.5(MED13L):c.4616A>G (p.Gln1539Arg)
|
|
|
NM_015335.5(MED13L):c.4622C>T (p.Thr1541Met)
|
|
|
NM_015335.5(MED13L):c.4623G>A (p.Thr1541=)
|
|
|
NM_015335.5(MED13L):c.4625C>A (p.Pro1542Gln)
|
|
|
NM_015335.5(MED13L):c.4631A>G (p.Asn1544Ser)
|
|
|
NM_015335.5(MED13L):c.4639C>A (p.Pro1547Thr)
|
|
|
NM_015335.5(MED13L):c.4639C>T (p.Pro1547Ser)
|
|
|
NM_015335.5(MED13L):c.4641C>T (p.Pro1547=)
|
|
|
NM_015335.5(MED13L):c.4660G>A (p.Ala1554Thr)
|
|
|
NM_015335.5(MED13L):c.4698G>A (p.Ser1566=)
|
|
|
NM_015335.5(MED13L):c.4699A>G (p.Asn1567Asp)
|
|
|
NM_015335.5(MED13L):c.4715del (p.Asn1572fs)
|
|
|
NM_015335.5(MED13L):c.4720G>A (p.Ala1574Thr)
|
|
|
NM_015335.5(MED13L):c.472A>G (p.Asn158Asp)
|
|
|
NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys)
|
|
|
NM_015335.5(MED13L):c.4745C>T (p.Ser1582Phe)
|
|
|
NM_015335.5(MED13L):c.475A>T (p.Lys159Ter)
|
|
|
NM_015335.5(MED13L):c.4766C>T (p.Ser1589Leu)
|
|
|
NM_015335.5(MED13L):c.4774T>C (p.Ser1592Pro)
|
|
|
NM_015335.5(MED13L):c.4786A>G (p.Ile1596Val)
|
|
|
NM_015335.5(MED13L):c.479+16G>A
|
|
|
NM_015335.5(MED13L):c.479+8T>C
|
rs2137816605
|
|
NM_015335.5(MED13L):c.480-15T>C
|
|
|
NM_015335.5(MED13L):c.480-9C>G
|
|
|
NM_015335.5(MED13L):c.480-9C>T
|
|
|
NM_015335.5(MED13L):c.481G>A (p.Glu161Lys)
|
|
|
NM_015335.5(MED13L):c.4831G>A (p.Val1611Ile)
|
|
|
NM_015335.5(MED13L):c.4837G>A (p.Gly1613Arg)
|
|
|
NM_015335.5(MED13L):c.4854T>G (p.Thr1618=)
|
|
|
NM_015335.5(MED13L):c.4875A>G (p.Arg1625=)
|
|
|
NM_015335.5(MED13L):c.4878G>A (p.Thr1626=)
|
|
|
NM_015335.5(MED13L):c.4886A>G (p.Asn1629Ser)
|
|
|
NM_015335.5(MED13L):c.4932G>C (p.Gln1644His)
|
|
|
NM_015335.5(MED13L):c.4949A>G (p.Gln1650Arg)
|
|
|
NM_015335.5(MED13L):c.494G>A (p.Cys165Tyr)
|
|
|
NM_015335.5(MED13L):c.4953G>A (p.Glu1651=)
|
|
|
NM_015335.5(MED13L):c.4953G>T (p.Glu1651Asp)
|
|
|
NM_015335.5(MED13L):c.4955+13_4955+14insAAT
|
|
|
NM_015335.5(MED13L):c.4955+1G>A
|
|
|
NM_015335.5(MED13L):c.4956-11TC[3]
|
|
|
NM_015335.5(MED13L):c.4956-3C>T
|
|
|
NM_015335.5(MED13L):c.4957G>A (p.Val1653Ile)
|
|
|
NM_015335.5(MED13L):c.4962A>G (p.Thr1654=)
|
|
|
NM_015335.5(MED13L):c.501C>T (p.Phe167=)
|
rs1383072937
|
|
NM_015335.5(MED13L):c.5024C>T (p.Pro1675Leu)
|
|
|
NM_015335.5(MED13L):c.5040C>T (p.Tyr1680=)
|
rs1592913487
|
|
NM_015335.5(MED13L):c.5051C>T (p.Pro1684Leu)
|
|
|
NM_015335.5(MED13L):c.5052G>C (p.Pro1684=)
|
|
|
NM_015335.5(MED13L):c.5057C>A (p.Thr1686Lys)
|
|
|
NM_015335.5(MED13L):c.5110A>G (p.Met1704Val)
|
|
|
NM_015335.5(MED13L):c.511C>T (p.Leu171=)
|
|
|
NM_015335.5(MED13L):c.5134G>A (p.Asp1712Asn)
|
rs1565992052
|
|
NM_015335.5(MED13L):c.5160T>C (p.Asn1720=)
|
rs2137270716
|
|
NM_015335.5(MED13L):c.5175+10T>G
|
|
|
NM_015335.5(MED13L):c.5175+11G>A
|
|
|
NM_015335.5(MED13L):c.5175+19A>G
|
|
|
NM_015335.5(MED13L):c.5175+1G>A
|
|
|
NM_015335.5(MED13L):c.5176-17dup
|
rs138808854
|
|
NM_015335.5(MED13L):c.5176-8G>A
|
|
|
NM_015335.5(MED13L):c.5181G>C (p.Val1727=)
|
rs2137265025
|
|
NM_015335.5(MED13L):c.5192A>G (p.Tyr1731Cys)
|
|
|
NM_015335.5(MED13L):c.5211G>A (p.Lys1737=)
|
|
|
NM_015335.5(MED13L):c.5253A>G (p.Ala1751=)
|
|
|
NM_015335.5(MED13L):c.5282C>A (p.Pro1761Gln)
|
|
|
NM_015335.5(MED13L):c.5283A>G (p.Pro1761=)
|
rs2137264574
|
|
NM_015335.5(MED13L):c.5284C>T (p.Leu1762=)
|
rs200641273
|
|
NM_015335.5(MED13L):c.5295G>A (p.Gln1765=)
|
|
|
NM_015335.5(MED13L):c.5299C>T (p.His1767Tyr)
|
rs2137264450
|
|
NM_015335.5(MED13L):c.5308T>C (p.Ser1770Pro)
|
|
|
NM_015335.5(MED13L):c.5313C>T (p.Leu1771=)
|
rs1017360857
|
|
NM_015335.5(MED13L):c.5316G>A (p.Thr1772=)
|
rs746426523
|
|
NM_015335.5(MED13L):c.5346G>A (p.Met1782Ile)
|
|
|
NM_015335.5(MED13L):c.5360C>T (p.Pro1787Leu)
|
|
|
NM_015335.5(MED13L):c.5365-15T>G
|
|
|
NM_015335.5(MED13L):c.5365-16T>C
|
|
|
NM_015335.5(MED13L):c.5365-18T>C
|
|
|
NM_015335.5(MED13L):c.5365-20G>T
|
|
|
NM_015335.5(MED13L):c.5365C>T (p.Arg1789Trp)
|
|
|
NM_015335.5(MED13L):c.53A>T (p.His18Leu)
|
|
|
NM_015335.5(MED13L):c.5413A>G (p.Ile1805Val)
|
|
|
NM_015335.5(MED13L):c.5445G>A (p.Thr1815=)
|
|
|
NM_015335.5(MED13L):c.5451T>C (p.Gly1817=)
|
|
|
NM_015335.5(MED13L):c.5457G>A (p.Ala1819=)
|
|
|
NM_015335.5(MED13L):c.5466A>G (p.Lys1822=)
|
|
|
NM_015335.5(MED13L):c.5481C>T (p.Phe1827=)
|
|
|
NM_015335.5(MED13L):c.5482G>T (p.Val1828Leu)
|
|
|
NM_015335.5(MED13L):c.5490T>C (p.Tyr1830=)
|
|
|
NM_015335.5(MED13L):c.5493T>C (p.Cys1831=)
|
|
|
NM_015335.5(MED13L):c.5502C>G (p.His1834Gln)
|
|
|
NM_015335.5(MED13L):c.5531C>G (p.Thr1844Ser)
|
|
|
NM_015335.5(MED13L):c.5540A>G (p.His1847Arg)
|
|
|
NM_015335.5(MED13L):c.5589-15T>G
|
|
|
NM_015335.5(MED13L):c.5589-17A>G
|
|
|
NM_015335.5(MED13L):c.5589-29TTCCCC[3]
|
|
|
NM_015335.5(MED13L):c.5589-9A>G
|
|
|
NM_015335.5(MED13L):c.5594G>A (p.Arg1865Gln)
|
|
|
NM_015335.5(MED13L):c.5603A>C (p.Lys1868Thr)
|
|
|
NM_015335.5(MED13L):c.5607A>T (p.Val1869=)
|
|
|
NM_015335.5(MED13L):c.5631G>T (p.Gln1877His)
|
rs1555241858
|
|
NM_015335.5(MED13L):c.5658T>A (p.Ile1886=)
|
rs1592904456
|
|
NM_015335.5(MED13L):c.5697G>A (p.Gly1899=)
|
|
|
NM_015335.5(MED13L):c.5708G>A (p.Arg1903His)
|
|
|
NM_015335.5(MED13L):c.5716C>T (p.His1906Tyr)
|
rs1876852244
|
|
NM_015335.5(MED13L):c.5766_5769del (p.Thr1923fs)
|
|
|
NM_015335.5(MED13L):c.578A>G (p.Asn193Ser)
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NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp)
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NM_015335.5(MED13L):c.5798G>A (p.Arg1933Gln)
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NM_015335.5(MED13L):c.5798G>T (p.Arg1933Leu)
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NM_015335.5(MED13L):c.5802G>A (p.Met1934Ile)
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rs554093251
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NM_015335.5(MED13L):c.5817C>T (p.Ala1939=)
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NM_015335.5(MED13L):c.5818del (p.Ala1940fs)
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NM_015335.5(MED13L):c.5827C>G (p.Pro1943Ala)
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NM_015335.5(MED13L):c.5831C>T (p.Ser1944Phe)
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NM_015335.5(MED13L):c.583G>A (p.Glu195Lys)
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NM_015335.5(MED13L):c.585_586delinsTT (p.Glu195_His196delinsAspTyr)
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NM_015335.5(MED13L):c.5891-12T>C
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NM_015335.5(MED13L):c.5891-16A>C
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NM_015335.5(MED13L):c.5891-16A>G
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NM_015335.5(MED13L):c.5891-8C>A
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NM_015335.5(MED13L):c.5902A>G (p.Met1968Val)
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NM_015335.5(MED13L):c.5929G>A (p.Ala1977Thr)
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NM_015335.5(MED13L):c.5939T>A (p.Met1980Lys)
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rs1876523724
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NM_015335.5(MED13L):c.593A>C (p.His198Pro)
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rs764593997
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NM_015335.5(MED13L):c.5943G>C (p.Gln1981His)
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NM_015335.5(MED13L):c.5946A>G (p.Ser1982=)
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NM_015335.5(MED13L):c.5985C>T (p.His1995=)
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rs1366083664
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NM_015335.5(MED13L):c.59A>G (p.Asn20Ser)
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NM_015335.5(MED13L):c.601C>T (p.Gln201Ter)
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rs1029377279
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NM_015335.5(MED13L):c.6037C>G (p.Pro2013Ala)
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rs1387712841
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NM_015335.5(MED13L):c.603G>T (p.Gln201His)
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rs1880117720
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NM_015335.5(MED13L):c.6057C>T (p.Ser2019=)
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NM_015335.5(MED13L):c.6060C>T (p.Pro2020=)
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NM_015335.5(MED13L):c.6067+16G>A
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NM_015335.5(MED13L):c.6067+7A>T
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NM_015335.5(MED13L):c.6068-13C>G
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NM_015335.5(MED13L):c.6068-17T>C
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NM_015335.5(MED13L):c.6068-17del
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NM_015335.5(MED13L):c.60C>T (p.Asn20=)
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rs746193221
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NM_015335.5(MED13L):c.6108C>T (p.Asp2036=)
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NM_015335.5(MED13L):c.611C>T (p.Pro204Leu)
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NM_015335.5(MED13L):c.6138C>T (p.Asn2046=)
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NM_015335.5(MED13L):c.6139C>G (p.Leu2047Val)
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NM_015335.5(MED13L):c.6156C>T (p.Asn2052=)
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NM_015335.5(MED13L):c.6189T>A (p.Ser2063=)
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NM_015335.5(MED13L):c.6239dup (p.Leu2081fs)
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NM_015335.5(MED13L):c.6245T>A (p.Leu2082His)
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rs2137203239
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NM_015335.5(MED13L):c.625+15T>G
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NM_015335.5(MED13L):c.625+16C>G
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NM_015335.5(MED13L):c.625+8T>G
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NM_015335.5(MED13L):c.626-12T>C
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NM_015335.5(MED13L):c.626-13C>T
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NM_015335.5(MED13L):c.6279G>A (p.Gln2093=)
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NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser)
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NM_015335.5(MED13L):c.6301G>A (p.Val2101Ile)
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NM_015335.5(MED13L):c.6303A>G (p.Val2101=)
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NM_015335.5(MED13L):c.6311C>T (p.Ala2104Val)
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rs1177608611
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NM_015335.5(MED13L):c.6329C>T (p.Pro2110Leu)
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NM_015335.5(MED13L):c.6387+11_6387+12insCTTAAAGGTTG
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NM_015335.5(MED13L):c.6387+20A>G
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NM_015335.5(MED13L):c.6387+4G>C
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NM_015335.5(MED13L):c.6387+8del
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NM_015335.5(MED13L):c.6388-13G>A
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NM_015335.5(MED13L):c.6388-21CT[2]
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NM_015335.5(MED13L):c.6388-4C>T
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NM_015335.5(MED13L):c.6388-7dup
|
rs753004245
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NM_015335.5(MED13L):c.641A>G (p.Tyr214Cys)
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NM_015335.5(MED13L):c.6435G>T (p.Leu2145=)
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NM_015335.5(MED13L):c.6441C>G (p.Ala2147=)
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NM_015335.5(MED13L):c.6454C>T (p.Arg2152Trp)
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NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met)
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rs869312707
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NM_015335.5(MED13L):c.6500+18C>T
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NM_015335.5(MED13L):c.6501-18G>C
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NM_015335.5(MED13L):c.6501-9C>G
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rs2137182384
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NM_015335.5(MED13L):c.6540G>A (p.Thr2180=)
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rs371240974
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NM_015335.5(MED13L):c.6562C>T (p.Arg2188Cys)
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NM_015335.5(MED13L):c.6569C>G (p.Ser2190Cys)
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NM_015335.5(MED13L):c.6570dup (p.Cys2191fs)
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rs1592888491
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NM_015335.5(MED13L):c.6579C>T (p.Pro2193=)
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NM_015335.5(MED13L):c.6582C>T (p.Val2194=)
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NM_015335.5(MED13L):c.672A>G (p.Ala224=)
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NM_015335.5(MED13L):c.681_682delinsTG (p.Met227_Ser228delinsIleAla)
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NM_015335.5(MED13L):c.690A>G (p.Pro230=)
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rs1592953981
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NM_015335.5(MED13L):c.698G>T (p.Arg233Leu)
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NM_015335.5(MED13L):c.70C>T (p.Leu24=)
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NM_015335.5(MED13L):c.712G>T (p.Glu238Ter)
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rs1879953298
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NM_015335.5(MED13L):c.722A>G (p.Tyr241Cys)
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rs564830776
|
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NM_015335.5(MED13L):c.727T>C (p.Tyr243His)
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NM_015335.5(MED13L):c.73-10_73-9dup
|
rs765651929
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NM_015335.5(MED13L):c.73-19A>T
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NM_015335.5(MED13L):c.73-5del
|
rs1593196291
|
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NM_015335.5(MED13L):c.732G>A (p.Pro244=)
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NM_015335.5(MED13L):c.732G>C (p.Pro244=)
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NM_015335.5(MED13L):c.752A>G (p.Glu251Gly)
|
rs28940309
|
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NM_015335.5(MED13L):c.758C>T (p.Ser253Leu)
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NM_015335.5(MED13L):c.780A>G (p.Gly260=)
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NM_015335.5(MED13L):c.785A>G (p.Asp262Gly)
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NM_015335.5(MED13L):c.789T>C (p.Asp263=)
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NM_015335.5(MED13L):c.7G>A (p.Ala3Thr)
|
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NM_015335.5(MED13L):c.813A>G (p.Val271=)
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NM_015335.5(MED13L):c.829C>G (p.Arg277Gly)
|
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NM_015335.5(MED13L):c.83C>T (p.Thr28Met)
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NM_015335.5(MED13L):c.867G>C (p.Gln289His)
|
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NM_015335.5(MED13L):c.942T>C (p.Ser314=)
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NM_015335.5(MED13L):c.979C>T (p.Pro327Ser)
|
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NM_015335.5(MED13L):c.987C>G (p.Thr329=)
|
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NM_015335.5(MED13L):c.993A>G (p.Pro331=)
|
rs780190117
|
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