NM_015335.5(MED13L):c.2469+211T>C
|
rs10774844
|
0.98349
|
NM_015335.5(MED13L):c.5731+54A>G
|
rs1992069
|
0.92737
|
NM_015335.5(MED13L):c.5731+55T>A
|
rs1992068
|
0.92734
|
NM_015335.5(MED13L):c.4114+249T>C
|
rs2241768
|
0.45292
|
NM_015335.5(MED13L):c.5176-274G>A
|
rs73196099
|
0.25457
|
NM_015335.5(MED13L):c.5365-330A>T
|
rs56295994
|
0.21552
|
NM_015335.5(MED13L):c.2997-139A>C
|
rs3741767
|
0.18946
|
NM_015335.5(MED13L):c.5364+182A>G
|
rs12422761
|
0.18735
|
NM_015335.5(MED13L):c.73-179G>C
|
rs17498914
|
0.16803
|
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.6067+142T>A
|
rs1344863
|
0.14928
|
NM_015335.5(MED13L):c.4956-40A>G
|
rs56159580
|
0.14237
|
NM_015335.5(MED13L):c.2013-7C>T
|
rs199749418
|
0.12825
|
NM_015335.5(MED13L):c.2013-9G>T
|
rs200367922
|
0.10199
|
NM_015335.5(MED13L):c.1176-212A>C
|
rs11067877
|
0.09655
|
NM_015335.5(MED13L):c.1280+138T>C
|
rs3764954
|
0.09612
|
NM_015335.5(MED13L):c.6354C>T (p.Pro2118=)
|
rs3088260
|
0.06405
|
NM_015335.5(MED13L):c.2570-334C>T
|
rs147946489
|
0.04657
|
NM_015335.5(MED13L):c.579T>C (p.Asn193=)
|
rs11067880
|
0.03424
|
NM_015335.5(MED13L):c.4956-71del
|
rs57452298
|
0.01975
|
NM_015335.5(MED13L):c.395+60A>G
|
rs17498473
|
0.01828
|
NM_015335.5(MED13L):c.4532-257C>G
|
rs76168561
|
0.01532
|
NM_015335.5(MED13L):c.4955+139A>G
|
rs71469744
|
0.01378
|
NM_015335.5(MED13L):c.625+41C>T
|
rs114742297
|
0.01086
|
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.73-147C>T
|
rs7132417
|
0.00960
|
NM_015335.5(MED13L):c.1280+305T>G
|
rs189380610
|
0.00864
|
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.5891-171A>G
|
rs16946502
|
0.00656
|
NM_015335.5(MED13L):c.5365-292T>C
|
rs78938873
|
0.00654
|
NM_015335.5(MED13L):c.1590C>T (p.Ala530=)
|
rs114269768
|
0.00638
|
NM_015335.5(MED13L):c.2013-10T>G
|
rs779894322
|
0.00634
|
NM_015335.5(MED13L):c.395+59G>A
|
rs181624925
|
0.00614
|
NM_015335.5(MED13L):c.5890+77G>A
|
rs76301952
|
0.00554
|
NM_015335.5(MED13L):c.1863T>C (p.Ile621=)
|
rs61748071
|
0.00444
|
NM_015335.5(MED13L):c.479+35C>T
|
rs186688405
|
0.00434
|
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.*285T>C
|
rs182172437
|
0.00330
|
NM_015335.5(MED13L):c.5891-284G>A
|
rs531165588
|
0.00297
|
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.1010-32A>G
|
rs371607017
|
0.00262
|
NM_015335.5(MED13L):c.5891-42G>C
|
rs141073828
|
0.00235
|
NM_015335.5(MED13L):c.1283A>G (p.His428Arg)
|
rs144410580
|
0.00222
|
NM_015335.5(MED13L):c.4338+22T>C
|
rs373430724
|
0.00205
|
NM_015335.5(MED13L):c.2570-107C>T
|
rs771532250
|
0.00192
|
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.2013-2A>T
|
rs745395440
|
0.00146
|
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.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.5365-135A>G
|
rs184714402
|
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.5176-33G>T
|
rs564990311
|
0.00069
|
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.4956-50C>T
|
rs367828106
|
0.00054
|
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
|
0.00045
|
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.2997-27C>T
|
rs199823264
|
0.00037
|
NM_015335.5(MED13L):c.2703_2705dup (p.Pro901_Met902insIle)
|
rs556713164
|
0.00035
|
NM_015335.5(MED13L):c.1877C>T (p.Pro626Leu)
|
rs186297695
|
0.00034
|
NM_015335.5(MED13L):c.4532-49G>A
|
rs371940656
|
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.2012+48G>A
|
rs201872286
|
0.00030
|
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.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.2145A>G (p.Pro715=)
|
rs565179910
|
0.00015
|
NM_015335.5(MED13L):c.2469+34C>T
|
rs368021400
|
0.00015
|
NM_015335.5(MED13L):c.479+47G>A
|
rs375359082
|
0.00015
|
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu)
|
rs537593859
|
0.00015
|
NM_015335.5(MED13L):c.1176-26A>G
|
rs553710147
|
0.00014
|
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.*11A>G
|
rs199672295
|
0.00010
|
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.656C>T (p.Thr219Met)
|
rs191743300
|
0.00010
|
NM_015335.5(MED13L):c.2012+47G>C
|
rs201563492
|
0.00009
|
NM_015335.5(MED13L):c.2013-45T>C
|
rs774788667
|
0.00009
|
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.73-45G>C
|
rs768244395
|
0.00008
|
NM_015335.5(MED13L):c.5562C>T (p.Cys1854=)
|
rs139063441
|
0.00007
|
NM_015335.5(MED13L):c.3068C>T (p.Thr1023Met)
|
rs747244814
|
0.00006
|
NM_015335.5(MED13L):c.6348G>A (p.Ser2116=)
|
rs769874135
|
0.00006
|
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.249A>G (p.Leu83=)
|
rs138672862
|
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.697C>T (p.Arg233Cys)
|
rs766642871
|
0.00004
|
NM_015335.5(MED13L):c.1124A>G (p.His375Arg)
|
rs376059806
|
0.00003
|
NM_015335.5(MED13L):c.2470-13C>T
|
rs757038374
|
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.395+26G>A
|
rs367910902
|
0.00003
|
NM_015335.5(MED13L):c.626-10C>A
|
rs776407123
|
0.00003
|
NM_015335.5(MED13L):c.72+10C>T
|
rs779448093
|
0.00003
|
NM_015335.5(MED13L):c.1280+44C>T
|
rs373042571
|
0.00002
|
NM_015335.5(MED13L):c.1943C>G (p.Pro648Arg)
|
rs1322326599
|
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.5058G>A (p.Thr1686=)
|
rs74757206
|
0.00002
|
NM_015335.5(MED13L):c.1175+5G>A
|
rs567368642
|
0.00001
|
NM_015335.5(MED13L):c.1261G>A (p.Val421Ile)
|
rs935188053
|
0.00001
|
NM_015335.5(MED13L):c.1601G>T (p.Arg534Ile)
|
rs775387694
|
0.00001
|
NM_015335.5(MED13L):c.1717C>A (p.Pro573Thr)
|
rs368307140
|
0.00001
|
NM_015335.5(MED13L):c.1859G>A (p.Gly620Glu)
|
rs780566155
|
0.00001
|
NM_015335.5(MED13L):c.2704A>G (p.Met902Val)
|
rs1468213991
|
0.00001
|
NM_015335.5(MED13L):c.2815C>G (p.Pro939Ala)
|
rs1195996739
|
0.00001
|
NM_015335.5(MED13L):c.3134G>A (p.Arg1045His)
|
rs1165240255
|
0.00001
|
NM_015335.5(MED13L):c.3155G>A (p.Arg1052Gln)
|
rs977444793
|
0.00001
|
NM_015335.5(MED13L):c.3268C>T (p.Arg1090Trp)
|
rs762410081
|
0.00001
|
NM_015335.5(MED13L):c.4468G>A (p.Gly1490Ser)
|
rs749956782
|
0.00001
|
NM_015335.5(MED13L):c.4607C>T (p.Ala1536Val)
|
rs527644823
|
0.00001
|
NM_015335.5(MED13L):c.4748C>G (p.Ser1583Cys)
|
rs1181249892
|
0.00001
|
NM_015335.5(MED13L):c.4877C>T (p.Thr1626Met)
|
rs911625539
|
0.00001
|
NM_015335.5(MED13L):c.4956-5T>A
|
rs771118133
|
0.00001
|
NM_015335.5(MED13L):c.5462A>G (p.Gln1821Arg)
|
rs1876884436
|
0.00001
|
NM_015335.5(MED13L):c.5510G>A (p.Arg1837His)
|
rs565032784
|
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
|
GRCh37/hg19 12q24.21(chr12:116497982-116534949)x1
|
|
|
GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1
|
|
|
NM_015335.5(MED13L):c.1010-4dup
|
rs771044608
|
|
NM_015335.5(MED13L):c.1169A>T (p.Gln390Leu)
|
|
|
NM_015335.5(MED13L):c.1186del (p.Met396fs)
|
rs1064794013
|
|
NM_015335.5(MED13L):c.1195C>T (p.Pro399Ser)
|
rs1879500574
|
|
NM_015335.5(MED13L):c.1226C>T (p.Pro409Leu)
|
|
|
NM_015335.5(MED13L):c.1280+1G>A
|
|
|
NM_015335.5(MED13L):c.1318C>T (p.Arg440Ter)
|
rs1205283728
|
|
NM_015335.5(MED13L):c.1336C>T (p.Gln446Ter)
|
rs886041503
|
|
NM_015335.5(MED13L):c.1448C>T (p.Pro483Leu)
|
rs2137386182
|
|
NM_015335.5(MED13L):c.145G>A (p.Ala49Thr)
|
|
|
NM_015335.5(MED13L):c.1684C>T (p.Gln562Ter)
|
rs2137385115
|
|
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs)
|
rs869025286
|
|
NM_015335.5(MED13L):c.1724C>T (p.Ser575Leu)
|
rs377144746
|
|
NM_015335.5(MED13L):c.1759C>G (p.Leu587Val)
|
|
|
NM_015335.5(MED13L):c.1773G>A (p.Gln591=)
|
rs3741768
|
|
NM_015335.5(MED13L):c.1941_1948del (p.Pro648fs)
|
rs1592941857
|
|
NM_015335.5(MED13L):c.1952T>G (p.Leu651Arg)
|
|
|
NM_015335.5(MED13L):c.1967G>A (p.Cys656Tyr)
|
|
|
NM_015335.5(MED13L):c.1992dup (p.Glu665fs)
|
rs1057518424
|
|
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs)
|
rs1555247800
|
|
NM_015335.5(MED13L):c.1A>G (p.Met1Val)
|
rs1131691818
|
|
NM_015335.5(MED13L):c.2013-10del
|
rs542425590
|
|
NM_015335.5(MED13L):c.2013-29_2013-21dup
|
rs542425590
|
|
NM_015335.5(MED13L):c.2013-29_2013-22dup
|
rs542425590
|
|
NM_015335.5(MED13L):c.2013-29_2013-27dup
|
rs542425590
|
|
NM_015335.5(MED13L):c.2013-29_2013-28dup
|
rs542425590
|
|
NM_015335.5(MED13L):c.2013-29dup
|
rs542425590
|
|
NM_015335.5(MED13L):c.2183C>T (p.Thr728Ile)
|
|
|
NM_015335.5(MED13L):c.2281C>A (p.His761Asn)
|
|
|
NM_015335.5(MED13L):c.2333C>T (p.Ala778Val)
|
rs1555247422
|
|
NM_015335.5(MED13L):c.2363C>T (p.Ala788Val)
|
rs1299165203
|
|
NM_015335.5(MED13L):c.2470-5C>G
|
rs1162894958
|
|
NM_015335.5(MED13L):c.2524C>T (p.Arg842Ter)
|
rs1064793483
|
|
NM_015335.5(MED13L):c.2539G>A (p.Asp847Asn)
|
|
|
NM_015335.5(MED13L):c.2570-74T>A
|
rs11067873
|
|
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly)
|
rs1555246154
|
|
NM_015335.5(MED13L):c.2581T>G (p.Leu861Val)
|
|
|
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu)
|
rs886039599
|
|
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu)
|
rs1555246145
|
|
NM_015335.5(MED13L):c.2605C>A (p.Pro869Thr)
|
rs1057524103
|
|
NM_015335.5(MED13L):c.2633C>T (p.Ser878Phe)
|
rs1064794939
|
|
NM_015335.5(MED13L):c.2636C>T (p.Pro879Leu)
|
rs1064795068
|
|
NM_015335.5(MED13L):c.269A>G (p.Asp90Gly)
|
rs2138459001
|
|
NM_015335.5(MED13L):c.26C>T (p.Ala9Val)
|
|
|
NM_015335.5(MED13L):c.2776C>A (p.Pro926Thr)
|
|
|
NM_015335.5(MED13L):c.2824C>G (p.Gln942Glu)
|
|
|
NM_015335.5(MED13L):c.2847G>A (p.Met949Ile)
|
|
|
NM_015335.5(MED13L):c.2908T>C (p.Cys970Arg)
|
|
|
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs)
|
rs1064796611
|
|
NM_015335.5(MED13L):c.2920C>T (p.Pro974Ser)
|
rs2137328362
|
|
NM_015335.5(MED13L):c.2930C>T (p.Ala977Val)
|
rs1131691671
|
|
NM_015335.5(MED13L):c.2944A>T (p.Ile982Phe)
|
rs2137328252
|
|
NM_015335.5(MED13L):c.2950C>A (p.Gln984Lys)
|
|
|
NM_015335.5(MED13L):c.2997-159dup
|
rs879503143
|
|
NM_015335.5(MED13L):c.2997-2A>G
|
rs1198136487
|
|
NM_015335.5(MED13L):c.3090_3093del (p.Ser1031fs)
|
rs1555245254
|
|
NM_015335.5(MED13L):c.3173G>A (p.Arg1058Lys)
|
|
|
NM_015335.5(MED13L):c.3269G>T (p.Arg1090Leu)
|
|
|
NM_015335.5(MED13L):c.3428C>T (p.Ala1143Val)
|
rs763939921
|
|
NM_015335.5(MED13L):c.3451G>A (p.Asp1151Asn)
|
|
|
NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter)
|
rs1555245108
|
|
NM_015335.5(MED13L):c.34del (p.Ala12fs)
|
rs1593238375
|
|
NM_015335.5(MED13L):c.3596G>A (p.Arg1199Lys)
|
|
|
NM_015335.5(MED13L):c.3765del (p.Cys1256fs)
|
rs147976828
|
|
NM_015335.5(MED13L):c.3833C>T (p.Ala1278Val)
|
|
|
NM_015335.5(MED13L):c.3895G>A (p.Val1299Met)
|
|
|
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr)
|
rs1231044656
|
|
NM_015335.5(MED13L):c.3920G>C (p.Trp1307Ser)
|
|
|
NM_015335.5(MED13L):c.3938T>G (p.Leu1313Arg)
|
rs759773785
|
|
NM_015335.5(MED13L):c.3986C>T (p.Ser1329Phe)
|
|
|
NM_015335.5(MED13L):c.401dup (p.Met135fs)
|
rs1593039493
|
|
NM_015335.5(MED13L):c.4033A>G (p.Arg1345Gly)
|
rs2137290173
|
|
NM_015335.5(MED13L):c.4051C>T (p.Gln1351Ter)
|
rs1057524341
|
|
NM_015335.5(MED13L):c.4060C>T (p.Gln1354Ter)
|
rs1565995054
|
|
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter)
|
rs1592919048
|
|
NM_015335.5(MED13L):c.4190C>T (p.Ser1397Leu)
|
rs2137287209
|
|
NM_015335.5(MED13L):c.4230C>A (p.Asp1410Glu)
|
rs2137287044
|
|
NM_015335.5(MED13L):c.4235A>G (p.Tyr1412Cys)
|
rs1190857852
|
|
NM_015335.5(MED13L):c.4259A>G (p.Tyr1420Cys)
|
rs2137286817
|
|
NM_015335.5(MED13L):c.4298G>A (p.Gly1433Glu)
|
rs2137286575
|
|
NM_015335.5(MED13L):c.4342T>G (p.Cys1448Gly)
|
|
|
NM_015335.5(MED13L):c.4387G>A (p.Gly1463Arg)
|
rs1555243607
|
|
NM_015335.5(MED13L):c.43G>T (p.Glu15Ter)
|
rs1057520775
|
|
NM_015335.5(MED13L):c.4403dup (p.Thr1470fs)
|
rs1131691764
|
|
NM_015335.5(MED13L):c.4412_4413del (p.Val1471fs)
|
rs1592915896
|
|
NM_015335.5(MED13L):c.442C>T (p.Arg148Ter)
|
rs1872666696
|
|
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter)
|
rs1555243580
|
|
NM_015335.5(MED13L):c.4532-13T>G
|
|
|
NM_015335.5(MED13L):c.4577del (p.Pro1526fs)
|
rs1057518262
|
|
NM_015335.5(MED13L):c.4609C>T (p.Gln1537Ter)
|
rs1555243400
|
|
NM_015335.5(MED13L):c.4700A>G (p.Asn1567Ser)
|
|
|
NM_015335.5(MED13L):c.4716del (p.Pro1573fs)
|
rs1064796113
|
|
NM_015335.5(MED13L):c.4720GCA[1] (p.Ala1575del)
|
|
|
NM_015335.5(MED13L):c.4955G>A (p.Ser1652Asn)
|
rs2137273654
|
|
NM_015335.5(MED13L):c.5057C>T (p.Thr1686Met)
|
rs1877397719
|
|
NM_015335.5(MED13L):c.5083dup (p.Ser1695fs)
|
rs1555243086
|
|
NM_015335.5(MED13L):c.5084C>A (p.Ser1695Tyr)
|
rs775457796
|
|
NM_015335.5(MED13L):c.5175+21T>A
|
rs145094432
|
|
NM_015335.5(MED13L):c.5175G>T (p.Gln1725His)
|
rs1555243051
|
|
NM_015335.5(MED13L):c.5234A>G (p.Gln1745Arg)
|
|
|
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter)
|
rs886041448
|
|
NM_015335.5(MED13L):c.5288C>A (p.Pro1763His)
|
rs747112698
|
|
NM_015335.5(MED13L):c.5315C>T (p.Thr1772Met)
|
rs2137264380
|
|
NM_015335.5(MED13L):c.5365-22T>A
|
rs374679380
|
|
NM_015335.5(MED13L):c.5365-22T>C
|
rs374679380
|
|
NM_015335.5(MED13L):c.53A>T (p.His18Leu)
|
|
|
NM_015335.5(MED13L):c.5459_5460delinsTA (p.Ser1820Ile)
|
rs2137243699
|
|
NM_015335.5(MED13L):c.5470A>G (p.Asn1824Asp)
|
|
|
NM_015335.5(MED13L):c.5471del (p.Asn1824fs)
|
|
|
NM_015335.5(MED13L):c.5531C>G (p.Thr1844Ser)
|
|
|
NM_015335.5(MED13L):c.553C>T (p.Gln185Ter)
|
rs2137446910
|
|
NM_015335.5(MED13L):c.5589-1G>A
|
rs1064796543
|
|
NM_015335.5(MED13L):c.5603A>C (p.Lys1868Thr)
|
|
|
NM_015335.5(MED13L):c.5615G>C (p.Arg1872Pro)
|
|
|
NM_015335.5(MED13L):c.5687T>A (p.Val1896Asp)
|
|
|
NM_015335.5(MED13L):c.5695G>A (p.Gly1899Arg)
|
rs2137241977
|
|
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter)
|
rs1876853109
|
|
NM_015335.5(MED13L):c.5710C>G (p.Leu1904Val)
|
|
|
NM_015335.5(MED13L):c.5719G>T (p.Gly1907Trp)
|
|
|
NM_015335.5(MED13L):c.5785A>G (p.Lys1929Glu)
|
rs1064795586
|
|
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs)
|
rs1876629983
|
|
NM_015335.5(MED13L):c.5798G>T (p.Arg1933Leu)
|
|
|
NM_015335.5(MED13L):c.5802G>A (p.Met1934Ile)
|
rs554093251
|
|
NM_015335.5(MED13L):c.5866C>T (p.Gln1956Ter)
|
rs1565985681
|
|
NM_015335.5(MED13L):c.5951A>G (p.Gln1984Arg)
|
rs2137223630
|
|
NM_015335.5(MED13L):c.5953C>G (p.Leu1985Val)
|
rs2137223609
|
|
NM_015335.5(MED13L):c.6010A>G (p.Thr2004Ala)
|
|
|
NM_015335.5(MED13L):c.6067+5G>A
|
|
|
NM_015335.5(MED13L):c.6073dup (p.Met2025fs)
|
rs1131691386
|
|
NM_015335.5(MED13L):c.6139C>G (p.Leu2047Val)
|
|
|
NM_015335.5(MED13L):c.6228C>A (p.Ser2076Arg)
|
rs2137203328
|
|
NM_015335.5(MED13L):c.626-27A>C
|
rs11611238
|
|
NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser)
|
|
|
NM_015335.5(MED13L):c.6284dup (p.Ala2096fs)
|
rs886041624
|
|
NM_015335.5(MED13L):c.6310G>T (p.Ala2104Ser)
|
rs1019178380
|
|
NM_015335.5(MED13L):c.6368A>G (p.Gln2123Arg)
|
|
|
NM_015335.5(MED13L):c.6392C>T (p.Ser2131Leu)
|
|
|
NM_015335.5(MED13L):c.6418C>T (p.Gln2140Ter)
|
rs1555239936
|
|
NM_015335.5(MED13L):c.6461dup (p.His2155fs)
|
rs1592890905
|
|
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met)
|
rs869312707
|
|
NM_015335.5(MED13L):c.6509T>G (p.Leu2170Trp)
|
|
|
NM_015335.5(MED13L):c.652G>A (p.Gly218Arg)
|
|
|
NM_015335.5(MED13L):c.6539C>T (p.Thr2180Met)
|
rs1875744082
|
|
NM_015335.5(MED13L):c.6554C>A (p.Thr2185Asn)
|
|
|
NM_015335.5(MED13L):c.6556C>T (p.Gln2186Ter)
|
rs1555239555
|
|
NM_015335.5(MED13L):c.6592G>C (p.Val2198Leu)
|
|
|
NM_015335.5(MED13L):c.72+27G>C
|
rs751073934
|
|
NM_015335.5(MED13L):c.72+41dup
|
rs377558672
|
|
NM_015335.5(MED13L):c.72+42G>C
|
rs765021303
|
|
NM_015335.5(MED13L):c.73-10_73-9dup
|
rs765651929
|
|
NM_015335.5(MED13L):c.735G>T (p.Met245Ile)
|
|
|
NM_015335.5(MED13L):c.769G>A (p.Asp257Asn)
|
|
|
NM_015335.5(MED13L):c.785A>G (p.Asp262Gly)
|
|
|
NM_015335.5(MED13L):c.79C>T (p.Leu27Phe)
|
|
|
NM_015335.5(MED13L):c.878del (p.Pro293fs)
|
rs1555249561
|
|
NM_015335.5(MED13L):c.88A>G (p.Ile30Val)
|
rs2138459773
|
|
NM_015335.5(MED13L):c.896C>G (p.Ala299Gly)
|
|
|
NM_015335.5(MED13L):c.941G>T (p.Ser314Ile)
|
|
|
NM_015335.5(MED13L):c.971C>T (p.Pro324Leu)
|
|
|