ClinVar Miner

List of variants in gene MED13L

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Gene type:
ClinVar version:
Total variants: 1541
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HGVS dbSNP gnomAD frequency
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 0.25650
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 0.17152
NM_015335.5(MED13L):c.5928T>C (p.Thr1976=) rs2304460 0.15213
NM_015335.5(MED13L):c.6067+142T>A rs1344863 0.15201
NM_015335.5(MED13L):c.3070T>C (p.Leu1024=) rs1865787 0.15121
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.1280+138T>C rs3764954 0.09799
NM_015335.5(MED13L):c.1176-212A>C rs11067877 0.09655
NM_015335.5(MED13L):c.6354C>T (p.Pro2118=) rs3088260 0.06405
NM_015335.5(MED13L):c.2570-334C>T rs147946489 0.04327
NM_015335.5(MED13L):c.579T>C (p.Asn193=) rs11067880 0.03209
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 0.01425
NM_015335.5(MED13L):c.4955+139A>G rs71469744 0.01308
NM_015335.5(MED13L):c.6068-8C>T rs61936939 0.01060
NM_015335.5(MED13L):c.948G>A (p.Lys316=) rs61748072 0.01036
NM_015335.5(MED13L):c.625+41C>T rs114742297 0.01019
NM_015335.5(MED13L):c.73-147C>T rs7132417 0.00960
NM_015335.5(MED13L):c.1009+12C>G rs113214439 0.00872
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.4744T>A (p.Ser1582Thr) rs150222863 0.00806
NM_015335.5(MED13L):c.1280+305T>G rs189380610 0.00789
NM_015335.5(MED13L):c.5891-171A>G rs16946502 0.00656
NM_015335.5(MED13L):c.5365-292T>C rs78938873 0.00648
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.1590C>T (p.Ala530=) rs114269768 0.00591
NM_015335.5(MED13L):c.5890+77G>A rs76301952 0.00515
NM_015335.5(MED13L):c.479+35C>T rs186688405 0.00434
NM_015335.5(MED13L):c.1863T>C (p.Ile621=) rs61748071 0.00391
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.1095G>A (p.Ser365=) rs144327790 0.00284
NM_015335.5(MED13L):c.1725G>A (p.Ser575=) rs77263223 0.00273
NM_015335.5(MED13L):c.1010-32A>G rs371607017 0.00242
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.2570-107C>T rs771532250 0.00192
NM_015335.5(MED13L):c.1215T>G (p.Pro405=) rs147976467 0.00182
NM_015335.5(MED13L):c.4338+22T>C rs373430724 0.00179
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.2056A>C (p.Lys686Gln) rs139048741 0.00126
NM_015335.5(MED13L):c.4522C>T (p.His1508Tyr) rs75575870 0.00125
NM_015335.5(MED13L):c.4467C>T (p.Ser1489=) rs141892892 0.00113
NM_015335.5(MED13L):c.5365-13G>A rs187309577 0.00112
NM_015335.5(MED13L):c.6225+20C>T rs146803417 0.00107
NM_015335.5(MED13L):c.3330T>C (p.Tyr1110=) rs139711748 0.00105
NM_015335.5(MED13L):c.5365-135A>G rs184714402 0.00104
NM_015335.5(MED13L):c.1010-14G>A rs368042803 0.00083
NM_015335.5(MED13L):c.1008A>C (p.Leu336=) rs150782464 0.00074
NM_015335.5(MED13L):c.5176-33G>T rs564990311 0.00069
NM_015335.5(MED13L):c.2013-9dup rs745375003 0.00066
NM_015335.5(MED13L):c.2013-5T>C rs372464585 0.00059
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile) rs148416895 0.00056
NM_015335.5(MED13L):c.4607C>T (p.Ala1536Val) rs527644823 0.00056
NM_015335.5(MED13L):c.4956-50C>T rs367828106 0.00055
NM_015335.5(MED13L):c.771C>T (p.Asp257=) rs148136300 0.00054
NM_015335.5(MED13L):c.3435C>T (p.Val1145=) rs568906108 0.00051
NM_015335.5(MED13L):c.40C>T (p.Leu14=) rs148454293 0.00048
NM_015335.5(MED13L):c.4758G>A (p.Pro1586=) rs141818426 0.00048
NM_015335.5(MED13L):c.1910G>A (p.Arg637His) rs146499452 0.00046
NM_015335.5(MED13L):c.73-7T>C rs199550041 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.5809A>C (p.Ile1937Leu) rs143602183 0.00038
NM_015335.5(MED13L):c.2997-27C>T rs199823264 0.00034
NM_015335.5(MED13L):c.2239-7T>C rs144147395 0.00032
NM_015335.5(MED13L):c.4532-49G>A rs371940656 0.00032
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu) rs113890513 0.00032
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile) rs142907547 0.00029
NM_015335.5(MED13L):c.2012+48G>A rs201872286 0.00028
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.1877C>T (p.Pro626Leu) rs186297695 0.00023
NM_015335.5(MED13L):c.4853C>G (p.Thr1618Ser) rs150339628 0.00021
NM_015335.5(MED13L):c.1316A>G (p.Asn439Ser) rs189898124 0.00020
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663 0.00020
NM_015335.5(MED13L):c.5559C>T (p.Thr1853=) rs141451756 0.00020
NM_015335.5(MED13L):c.201C>T (p.Asn67=) rs144509091 0.00019
NM_015335.5(MED13L):c.2790+11A>G rs183033606 0.00019
NM_015335.5(MED13L):c.4339-10A>G rs376463996 0.00019
NM_015335.5(MED13L):c.2470-15A>G rs145484216 0.00017
NM_015335.5(MED13L):c.5891-16A>G rs188574299 0.00017
NM_015335.5(MED13L):c.969G>A (p.Met323Ile) rs141207031 0.00017
NM_015335.5(MED13L):c.1124A>G (p.His375Arg) rs376059806 0.00016
NM_015335.5(MED13L):c.5664A>G (p.Gln1888=) rs143739741 0.00016
NM_015335.5(MED13L):c.107A>G (p.Asn36Ser) rs370115918 0.00015
NM_015335.5(MED13L):c.2469+34C>T rs368021400 0.00015
NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser) rs201987892 0.00015
NM_015335.5(MED13L):c.1176-26A>G rs553710147 0.00014
NM_015335.5(MED13L):c.395+26G>A rs367910902 0.00014
NM_015335.5(MED13L):c.2012+47G>C rs201563492 0.00013
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.479+47G>A rs375359082 0.00013
NM_015335.5(MED13L):c.5308T>C (p.Ser1770Pro) rs146125659 0.00013
NM_015335.5(MED13L):c.6156C>T (p.Asn2052=) rs373518640 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.*11A>G rs199672295 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.1797T>C (p.Thr599=) rs143609690 0.00009
NM_015335.5(MED13L):c.36G>A (p.Ala12=) rs562987588 0.00009
NM_015335.5(MED13L):c.3935-12C>T rs764151600 0.00009
NM_015335.5(MED13L):c.5413A>G (p.Ile1805Val) rs369034017 0.00009
NM_015335.5(MED13L):c.73-19A>T rs369506837 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.2013-45T>C rs774788667 0.00008
NM_015335.5(MED13L):c.4114+8C>G rs370491568 0.00008
NM_015335.5(MED13L):c.5768C>T (p.Thr1923Ile) rs149651647 0.00008
NM_015335.5(MED13L):c.789T>C (p.Asp263=) rs200184957 0.00008
NM_015335.5(MED13L):c.1447C>A (p.Pro483Thr) rs558160659 0.00007
NM_015335.5(MED13L):c.1871C>T (p.Ser624Leu) rs200545513 0.00007
NM_015335.5(MED13L):c.3354C>T (p.Ser1118=) rs368878357 0.00007
NM_015335.5(MED13L):c.3881T>A (p.Val1294Glu) rs554017223 0.00007
NM_015335.5(MED13L):c.4519C>T (p.Arg1507Cys) rs373715429 0.00007
NM_015335.5(MED13L):c.4698G>A (p.Ser1566=) rs372602814 0.00007
NM_015335.5(MED13L):c.4949A>G (p.Gln1650Arg) rs746027915 0.00007
NM_015335.5(MED13L):c.5211G>A (p.Lys1737=) rs376850639 0.00007
NM_015335.5(MED13L):c.5562C>T (p.Cys1854=) rs139063441 0.00007
NM_015335.5(MED13L):c.5890+11T>G rs138264591 0.00007
NM_015335.5(MED13L):c.73-45G>C rs768244395 0.00007
NM_015335.5(MED13L):c.2035C>T (p.Arg679Trp) rs368437832 0.00006
NM_015335.5(MED13L):c.2703_2705dup (p.Pro901_Met902insIle) rs556713164 0.00006
NM_015335.5(MED13L):c.2778C>T (p.Pro926=) rs144357346 0.00006
NM_015335.5(MED13L):c.3068C>T (p.Thr1023Met) rs747244814 0.00006
NM_015335.5(MED13L):c.3788G>A (p.Arg1263Gln) rs374506267 0.00006
NM_015335.5(MED13L):c.4275A>G (p.Pro1425=) rs112942800 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.5891-12T>C rs371509176 0.00006
NM_015335.5(MED13L):c.5949T>C (p.Ser1983=) rs755349550 0.00006
NM_015335.5(MED13L):c.6545A>G (p.Asn2182Ser) rs762926166 0.00006
NM_015335.5(MED13L):c.83C>T (p.Thr28Met) rs563883392 0.00006
NM_015335.5(MED13L):c.1094C>T (p.Ser365Leu) rs150761787 0.00005
NM_015335.5(MED13L):c.1175+12C>T rs554820958 0.00005
NM_015335.5(MED13L):c.1185A>C (p.Gln395His) rs374884525 0.00005
NM_015335.5(MED13L):c.1297C>T (p.Arg433Cys) rs762680575 0.00005
NM_015335.5(MED13L):c.1551A>C (p.Leu517Phe) rs765566328 0.00005
NM_015335.5(MED13L):c.1563C>T (p.Ser521=) rs996717363 0.00005
NM_015335.5(MED13L):c.1650C>G (p.Ser550=) rs140615409 0.00005
NM_015335.5(MED13L):c.2570-7T>C rs768826816 0.00005
NM_015335.5(MED13L):c.2705T>C (p.Met902Thr) rs371712978 0.00005
NM_015335.5(MED13L):c.2845A>G (p.Met949Val) rs760709095 0.00005
NM_015335.5(MED13L):c.3429G>A (p.Ala1143=) rs753776073 0.00005
NM_015335.5(MED13L):c.3934+3A>G rs747852225 0.00005
NM_015335.5(MED13L):c.4137G>A (p.Pro1379=) rs200776562 0.00005
NM_015335.5(MED13L):c.4339-9T>C rs373540299 0.00005
NM_015335.5(MED13L):c.4458G>A (p.Gln1486=) rs746608608 0.00005
NM_015335.5(MED13L):c.4932G>C (p.Gln1644His) rs746956983 0.00005
NM_015335.5(MED13L):c.573G>C (p.Leu191Phe) rs201690921 0.00005
NM_015335.5(MED13L):c.626-4A>G rs768048151 0.00005
NM_015335.5(MED13L):c.641A>G (p.Tyr214Cys) rs779946861 0.00005
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg) rs1210016465 0.00004
NM_015335.5(MED13L):c.1198A>G (p.Thr400Ala) rs143469047 0.00004
NM_015335.5(MED13L):c.1503A>G (p.Gln501=) rs538329234 0.00004
NM_015335.5(MED13L):c.1645C>A (p.His549Asn) rs778181763 0.00004
NM_015335.5(MED13L):c.166A>G (p.Ile56Val) rs777432809 0.00004
NM_015335.5(MED13L):c.2489G>A (p.Arg830His) rs371478740 0.00004
NM_015335.5(MED13L):c.2648A>G (p.Tyr883Cys) rs777444843 0.00004
NM_015335.5(MED13L):c.2868G>A (p.Leu956=) rs570146432 0.00004
NM_015335.5(MED13L):c.3306A>G (p.Pro1102=) rs375910790 0.00004
NM_015335.5(MED13L):c.4396C>T (p.Arg1466Cys) rs530432287 0.00004
NM_015335.5(MED13L):c.4525C>T (p.His1509Tyr) rs576128399 0.00004
NM_015335.5(MED13L):c.4660G>A (p.Ala1554Thr) rs756092906 0.00004
NM_015335.5(MED13L):c.5261T>C (p.Val1754Ala) rs373887964 0.00004
NM_015335.5(MED13L):c.5365C>T (p.Arg1789Trp) rs201983216 0.00004
NM_015335.5(MED13L):c.5371A>G (p.Ser1791Gly) rs746735422 0.00004
NM_015335.5(MED13L):c.5563G>A (p.Val1855Ile) rs182752795 0.00004
NM_015335.5(MED13L):c.5902A>G (p.Met1968Val) rs773154606 0.00004
NM_015335.5(MED13L):c.6068-13C>G rs752181605 0.00004
NM_015335.5(MED13L):c.6348G>A (p.Ser2116=) rs769874135 0.00004
NM_015335.5(MED13L):c.6388-4C>T rs367778594 0.00004
NM_015335.5(MED13L):c.6522C>T (p.Asn2174=) rs370692319 0.00004
NM_015335.5(MED13L):c.697C>T (p.Arg233Cys) rs766642871 0.00004
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.1617A>C (p.Gln539His) rs200603975 0.00003
NM_015335.5(MED13L):c.1728C>T (p.Val576=) rs145052784 0.00003
NM_015335.5(MED13L):c.1840G>A (p.Glu614Lys) rs762114479 0.00003
NM_015335.5(MED13L):c.1855T>G (p.Cys619Gly) rs1345208839 0.00003
NM_015335.5(MED13L):c.2145A>G (p.Pro715=) rs565179910 0.00003
NM_015335.5(MED13L):c.2220T>G (p.Asp740Glu) rs780951133 0.00003
NM_015335.5(MED13L):c.2320A>G (p.Ile774Val) rs200209262 0.00003
NM_015335.5(MED13L):c.2469+11C>T rs533099331 0.00003
NM_015335.5(MED13L):c.2470-12G>A rs774299382 0.00003
NM_015335.5(MED13L):c.2470-13C>T rs757038374 0.00003
NM_015335.5(MED13L):c.249A>G (p.Leu83=) rs138672862 0.00003
NM_015335.5(MED13L):c.2913G>T (p.Leu971=) rs201948814 0.00003
NM_015335.5(MED13L):c.3015G>C (p.Gly1005=) rs916455934 0.00003
NM_015335.5(MED13L):c.3064G>A (p.Val1022Met) rs781353182 0.00003
NM_015335.5(MED13L):c.3095A>G (p.Asn1032Ser) rs373734569 0.00003
NM_015335.5(MED13L):c.3114A>G (p.Leu1038=) rs765903489 0.00003
NM_015335.5(MED13L):c.3231C>T (p.Thr1077=) rs201077645 0.00003
NM_015335.5(MED13L):c.3273C>T (p.Pro1091=) rs145072799 0.00003
NM_015335.5(MED13L):c.3396C>T (p.Cys1132=) rs201742989 0.00003
NM_015335.5(MED13L):c.3495T>C (p.Ser1165=) rs140397237 0.00003
NM_015335.5(MED13L):c.3586G>A (p.Ala1196Thr) rs756687081 0.00003
NM_015335.5(MED13L):c.359C>T (p.Thr120Met) rs765903997 0.00003
NM_015335.5(MED13L):c.3752G>A (p.Arg1251His) rs142574863 0.00003
NM_015335.5(MED13L):c.3801T>A (p.Asp1267Glu) rs901597725 0.00003
NM_015335.5(MED13L):c.3819G>A (p.Thr1273=) rs542711978 0.00003
NM_015335.5(MED13L):c.3847C>T (p.Arg1283Trp) rs769123468 0.00003
NM_015335.5(MED13L):c.4119G>A (p.Ser1373=) rs376574569 0.00003
NM_015335.5(MED13L):c.4166A>G (p.Tyr1389Cys) rs765745700 0.00003
NM_015335.5(MED13L):c.4191G>A (p.Ser1397=) rs373550838 0.00003
NM_015335.5(MED13L):c.4261A>G (p.Ile1421Val) rs747089502 0.00003
NM_015335.5(MED13L):c.4319A>G (p.Asp1440Gly) rs971640387 0.00003
NM_015335.5(MED13L):c.4711A>G (p.Thr1571Ala) rs773833981 0.00003
NM_015335.5(MED13L):c.5253A>G (p.Ala1751=) rs763000628 0.00003
NM_015335.5(MED13L):c.5295G>A (p.Gln1765=) rs535136745 0.00003
NM_015335.5(MED13L):c.5445G>A (p.Thr1815=) rs767436852 0.00003
NM_015335.5(MED13L):c.5451T>C (p.Gly1817=) rs759694170 0.00003
NM_015335.5(MED13L):c.5594G>A (p.Arg1865Gln) rs759211676 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.6108C>T (p.Asp2036=) rs541206959 0.00003
NM_015335.5(MED13L):c.611C>T (p.Pro204Leu) rs772556855 0.00003
NM_015335.5(MED13L):c.626-10C>A rs776407123 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.1010-6T>G rs558433362 0.00002
NM_015335.5(MED13L):c.1073C>T (p.Thr358Met) rs139163900 0.00002
NM_015335.5(MED13L):c.1092A>G (p.Arg364=) rs374150159 0.00002
NM_015335.5(MED13L):c.1136G>A (p.Arg379Gln) rs758022508 0.00002
NM_015335.5(MED13L):c.1280+44C>T rs373042571 0.00002
NM_015335.5(MED13L):c.1281-17G>A rs754271014 0.00002
NM_015335.5(MED13L):c.1319G>A (p.Arg440Gln) rs201172345 0.00002
NM_015335.5(MED13L):c.1328C>T (p.Thr443Ile) rs779239191 0.00002
NM_015335.5(MED13L):c.1394C>T (p.Ser465Phe) rs761190378 0.00002
NM_015335.5(MED13L):c.1709G>A (p.Ser570Asn) rs767297698 0.00002
NM_015335.5(MED13L):c.1724C>T (p.Ser575Leu) rs377144746 0.00002
NM_015335.5(MED13L):c.1765C>T (p.Leu589Phe) rs372595490 0.00002
NM_015335.5(MED13L):c.1839C>T (p.Ser613=) rs770085367 0.00002
NM_015335.5(MED13L):c.1943C>G (p.Pro648Arg) rs1322326599 0.00002
NM_015335.5(MED13L):c.2022A>C (p.Ala674=) rs145117616 0.00002
NM_015335.5(MED13L):c.2197T>A (p.Cys733Ser) rs150711606 0.00002
NM_015335.5(MED13L):c.2222C>G (p.Ser741Cys) rs750559410 0.00002
NM_015335.5(MED13L):c.2260A>G (p.Lys754Glu) rs758655452 0.00002
NM_015335.5(MED13L):c.2351G>A (p.Arg784Gln) rs749407155 0.00002
NM_015335.5(MED13L):c.2509G>T (p.Val837Phe) rs1878842526 0.00002
NM_015335.5(MED13L):c.278A>G (p.Asn93Ser) rs758996097 0.00002
NM_015335.5(MED13L):c.2929G>A (p.Ala977Thr) rs753702133 0.00002
NM_015335.5(MED13L):c.3069G>A (p.Thr1023=) rs780149328 0.00002
NM_015335.5(MED13L):c.3165G>A (p.Arg1055=) rs377275459 0.00002
NM_015335.5(MED13L):c.3258C>G (p.Pro1086=) rs1477751856 0.00002
NM_015335.5(MED13L):c.3644C>G (p.Thr1215Ser) rs763041697 0.00002
NM_015335.5(MED13L):c.3756A>G (p.Gln1252=) rs952740214 0.00002
NM_015335.5(MED13L):c.3802A>G (p.Asn1268Asp) rs758996927 0.00002
NM_015335.5(MED13L):c.4265T>C (p.Val1422Ala) rs780657499 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.4745C>T (p.Ser1582Phe) rs748040838 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.4839G>A (p.Gly1613=) rs754275970 0.00002
NM_015335.5(MED13L):c.4962A>G (p.Thr1654=) rs756163418 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.5284C>T (p.Leu1762=) rs200641273 0.00002
NM_015335.5(MED13L):c.5471A>G (p.Asn1824Ser) rs763491465 0.00002
NM_015335.5(MED13L):c.5481C>T (p.Phe1827=) rs551222785 0.00002
NM_015335.5(MED13L):c.5540A>G (p.His1847Arg) rs755985478 0.00002
NM_015335.5(MED13L):c.5615G>A (p.Arg1872His) rs28940310 0.00002
NM_015335.5(MED13L):c.5630A>G (p.Gln1877Arg) rs772898348 0.00002
NM_015335.5(MED13L):c.565A>C (p.Ile189Leu) rs1477471791 0.00002
NM_015335.5(MED13L):c.5697G>A (p.Gly1899=) rs758420632 0.00002
NM_015335.5(MED13L):c.5798G>A (p.Arg1933Gln) rs778173015 0.00002
NM_015335.5(MED13L):c.5817C>T (p.Ala1939=) rs781200403 0.00002
NM_015335.5(MED13L):c.5986A>G (p.Ile1996Val) rs1272594944 0.00002
NM_015335.5(MED13L):c.6486G>A (p.Thr2162=) rs763493523 0.00002
NM_015335.5(MED13L):c.6548C>T (p.Pro2183Leu) rs151124575 0.00002
NM_015335.5(MED13L):c.6549G>A (p.Pro2183=) rs768288594 0.00002
NM_015335.5(MED13L):c.758C>T (p.Ser253Leu) rs768465757 0.00002
NM_015335.5(MED13L):c.760A>G (p.Lys254Glu) rs777805865 0.00002
NM_015335.5(MED13L):c.79C>T (p.Leu27Phe) rs1379524685 0.00002
NM_015335.5(MED13L):c.1010-12C>T rs1224014336 0.00001
NM_015335.5(MED13L):c.1029G>C (p.Gln343His) rs749587320 0.00001
NM_015335.5(MED13L):c.1064G>A (p.Gly355Glu) rs779614784 0.00001
NM_015335.5(MED13L):c.1067T>G (p.Met356Arg) rs757904452 0.00001
NM_015335.5(MED13L):c.106A>G (p.Asn36Asp) rs759751651 0.00001
NM_015335.5(MED13L):c.1072A>G (p.Thr358Ala) rs1193527567 0.00001
NM_015335.5(MED13L):c.1076T>C (p.Met359Thr) rs753631230 0.00001
NM_015335.5(MED13L):c.1091G>A (p.Arg364Lys) rs993003177 0.00001
NM_015335.5(MED13L):c.1169A>T (p.Gln390Leu) rs1213206833 0.00001
NM_015335.5(MED13L):c.1175+5G>A rs567368642 0.00001
NM_015335.5(MED13L):c.1176-9C>A rs1199219649 0.00001
NM_015335.5(MED13L):c.1261G>A (p.Val421Ile) rs935188053 0.00001
NM_015335.5(MED13L):c.1280G>A (p.Arg427Lys) rs1221238607 0.00001
NM_015335.5(MED13L):c.1298G>A (p.Arg433His) rs772983457 0.00001
NM_015335.5(MED13L):c.1309G>A (p.Gly437Arg) rs1478066317 0.00001
NM_015335.5(MED13L):c.1349G>T (p.Ser450Ile) rs1879229636 0.00001
NM_015335.5(MED13L):c.1362A>G (p.Ser454=) rs1314616641 0.00001
NM_015335.5(MED13L):c.1385C>T (p.Pro462Leu) rs772715909 0.00001
NM_015335.5(MED13L):c.1482C>T (p.Ala494=) rs775477557 0.00001
NM_015335.5(MED13L):c.1483G>A (p.Glu495Lys) rs1463662164 0.00001
NM_015335.5(MED13L):c.1508C>T (p.Thr503Ile) rs1164114098 0.00001
NM_015335.5(MED13L):c.1525G>A (p.Gly509Arg) rs1427629915 0.00001
NM_015335.5(MED13L):c.1589C>T (p.Ala530Val) rs761541301 0.00001
NM_015335.5(MED13L):c.1601G>T (p.Arg534Ile) rs775387694 0.00001
NM_015335.5(MED13L):c.1609A>G (p.Ser537Gly) rs1332032276 0.00001
NM_015335.5(MED13L):c.1649C>G (p.Ser550Cys) rs1236040665 0.00001
NM_015335.5(MED13L):c.1654A>G (p.Ile552Val) rs371805787 0.00001
NM_015335.5(MED13L):c.1717C>A (p.Pro573Thr) rs368307140 0.00001
NM_015335.5(MED13L):c.1722A>G (p.Pro574=) rs1592942209 0.00001
NM_015335.5(MED13L):c.1780A>G (p.Thr594Ala) rs1301592130 0.00001
NM_015335.5(MED13L):c.1803C>T (p.Leu601=) rs148895195 0.00001
NM_015335.5(MED13L):c.1804G>A (p.Val602Ile) rs759007334 0.00001
NM_015335.5(MED13L):c.1823T>C (p.Leu608Pro) rs1243886147 0.00001
NM_015335.5(MED13L):c.1853A>G (p.Tyr618Cys) rs747110033 0.00001
NM_015335.5(MED13L):c.1859G>A (p.Gly620Glu) rs780566155 0.00001
NM_015335.5(MED13L):c.1897T>G (p.Trp633Gly) rs1879194923 0.00001
NM_015335.5(MED13L):c.1924G>C (p.Asp642His) rs375037374 0.00001
NM_015335.5(MED13L):c.1967G>A (p.Cys656Tyr) rs577727855 0.00001
NM_015335.5(MED13L):c.1969G>A (p.Asp657Asn) rs760771799 0.00001
NM_015335.5(MED13L):c.1970A>T (p.Asp657Val) rs775442091 0.00001
NM_015335.5(MED13L):c.1975A>G (p.Lys659Glu) rs1407628951 0.00001
NM_015335.5(MED13L):c.2012+12C>G rs1310519317 0.00001
NM_015335.5(MED13L):c.2014C>T (p.Leu672Phe) rs753868437 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.2097G>A (p.Leu699=) rs779974031 0.00001
NM_015335.5(MED13L):c.2109A>G (p.Gln703=) rs1879123634 0.00001
NM_015335.5(MED13L):c.2117G>A (p.Gly706Glu) rs200257416 0.00001
NM_015335.5(MED13L):c.211G>A (p.Val71Ile) rs755079872 0.00001
NM_015335.5(MED13L):c.2122A>G (p.Ser708Gly) rs762231074 0.00001
NM_015335.5(MED13L):c.2196A>G (p.Lys732=) rs545013557 0.00001
NM_015335.5(MED13L):c.2211G>A (p.Thr737=) rs747879843 0.00001
NM_015335.5(MED13L):c.2238+13A>T rs893317441 0.00001
NM_015335.5(MED13L):c.2255G>C (p.Gly752Ala) rs1337705540 0.00001
NM_015335.5(MED13L):c.227T>C (p.Val76Ala) rs766945145 0.00001
NM_015335.5(MED13L):c.2282A>G (p.His761Arg) rs745882136 0.00001
NM_015335.5(MED13L):c.2288C>T (p.Thr763Met) rs2499901573 0.00001
NM_015335.5(MED13L):c.230A>G (p.Lys77Arg) rs142742835 0.00001
NM_015335.5(MED13L):c.2330C>G (p.Ser777Cys) rs1879044151 0.00001
NM_015335.5(MED13L):c.2345-8T>G rs1293325845 0.00001
NM_015335.5(MED13L):c.2350C>T (p.Arg784Trp) rs757359386 0.00001
NM_015335.5(MED13L):c.2375C>G (p.Ala792Gly) rs542946207 0.00001
NM_015335.5(MED13L):c.2468G>A (p.Gly823Glu) rs1879015895 0.00001
NM_015335.5(MED13L):c.2485C>T (p.Leu829=) rs977124027 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.2598C>T (p.Pro866=) rs776039984 0.00001
NM_015335.5(MED13L):c.2621A>C (p.His874Pro) rs747695084 0.00001
NM_015335.5(MED13L):c.2704A>G (p.Met902Val) rs1468213991 0.00001
NM_015335.5(MED13L):c.277A>G (p.Asn93Asp) rs771759533 0.00001
NM_015335.5(MED13L):c.2790+12T>C rs776949066 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.2815C>G (p.Pro939Ala) rs1195996739 0.00001
NM_015335.5(MED13L):c.2818T>C (p.Ser940Pro) rs374395763 0.00001
NM_015335.5(MED13L):c.2824C>G (p.Gln942Glu) rs1273935103 0.00001
NM_015335.5(MED13L):c.2826A>G (p.Gln942=) rs757139528 0.00001
NM_015335.5(MED13L):c.2834T>C (p.Val945Ala) rs1285890331 0.00001
NM_015335.5(MED13L):c.2871G>A (p.Pro957=) rs771187948 0.00001
NM_015335.5(MED13L):c.2918G>A (p.Arg973Gln) rs1280691679 0.00001
NM_015335.5(MED13L):c.2925A>G (p.Ser975=) rs371364463 0.00001
NM_015335.5(MED13L):c.2950C>A (p.Gln984Lys) rs1376289620 0.00001
NM_015335.5(MED13L):c.2952A>G (p.Gln984=) rs1592929406 0.00001
NM_015335.5(MED13L):c.2959A>G (p.Met987Val) rs1241663972 0.00001
NM_015335.5(MED13L):c.2965C>G (p.Pro989Ala) rs751953837 0.00001
NM_015335.5(MED13L):c.2997-11T>G rs751005695 0.00001
NM_015335.5(MED13L):c.3000C>T (p.Asn1000=) rs775221277 0.00001
NM_015335.5(MED13L):c.3078C>T (p.Ser1026=) rs559812857 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.3207A>G (p.Gln1069=) rs761547177 0.00001
NM_015335.5(MED13L):c.3265A>G (p.Thr1089Ala) rs2499857487 0.00001
NM_015335.5(MED13L):c.3268C>T (p.Arg1090Trp) rs762410081 0.00001
NM_015335.5(MED13L):c.3290C>T (p.Pro1097Leu) rs1160577475 0.00001
NM_015335.5(MED13L):c.3292G>A (p.Ala1098Thr) rs149578923 0.00001
NM_015335.5(MED13L):c.3327C>T (p.Leu1109=) rs947031478 0.00001
NM_015335.5(MED13L):c.3355G>A (p.Val1119Met) rs574079603 0.00001
NM_015335.5(MED13L):c.3518G>T (p.Gly1173Val) rs773730403 0.00001
NM_015335.5(MED13L):c.3578T>C (p.Ile1193Thr) rs778548484 0.00001
NM_015335.5(MED13L):c.3590C>T (p.Ala1197Val) rs2499856179 0.00001
NM_015335.5(MED13L):c.3598C>T (p.Arg1200Cys) rs753317259 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.3645C>T (p.Thr1215=) rs372042921 0.00001
NM_015335.5(MED13L):c.3647A>G (p.Lys1216Arg) rs147606548 0.00001
NM_015335.5(MED13L):c.3706C>A (p.Pro1236Thr) rs756880342 0.00001
NM_015335.5(MED13L):c.3714T>G (p.Ala1238=) rs749014322 0.00001
NM_015335.5(MED13L):c.3751C>T (p.Arg1251Cys) rs781283097 0.00001
NM_015335.5(MED13L):c.3818C>T (p.Thr1273Met) rs775807063 0.00001
NM_015335.5(MED13L):c.3833C>T (p.Ala1278Val) rs748882337 0.00001
NM_015335.5(MED13L):c.3834G>A (p.Ala1278=) rs145466664 0.00001
NM_015335.5(MED13L):c.3885C>T (p.Asp1295=) rs201731067 0.00001
NM_015335.5(MED13L):c.3930C>T (p.Ser1310=) rs769509460 0.00001
NM_015335.5(MED13L):c.3954C>T (p.Leu1318=) rs200215079 0.00001
NM_015335.5(MED13L):c.396-14T>C rs992491022 0.00001
NM_015335.5(MED13L):c.3986C>T (p.Ser1329Phe) rs1039570391 0.00001
NM_015335.5(MED13L):c.4086C>T (p.Phe1362=) rs749495593 0.00001
NM_015335.5(MED13L):c.4113C>T (p.Tyr1371=) rs767543191 0.00001
NM_015335.5(MED13L):c.4114+17G>A rs1401636623 0.00001
NM_015335.5(MED13L):c.4114+2T>A rs1393295692 0.00001
NM_015335.5(MED13L):c.4115-18A>G rs894572752 0.00001
NM_015335.5(MED13L):c.4115-7A>T rs1054976642 0.00001
NM_015335.5(MED13L):c.4150A>G (p.Thr1384Ala) rs1435773034 0.00001
NM_015335.5(MED13L):c.4160T>C (p.Val1387Ala) rs1282370786 0.00001
NM_015335.5(MED13L):c.4206G>A (p.Pro1402=) rs770880941 0.00001
NM_015335.5(MED13L):c.4247G>A (p.Arg1416His) rs1221429561 0.00001
NM_015335.5(MED13L):c.4294G>A (p.Glu1432Lys) rs758950766 0.00001
NM_015335.5(MED13L):c.4328C>A (p.Ala1443Asp) rs377383459 0.00001
NM_015335.5(MED13L):c.4342T>G (p.Cys1448Gly) rs1454130569 0.00001
NM_015335.5(MED13L):c.4347G>A (p.Arg1449=) rs765115941 0.00001
NM_015335.5(MED13L):c.4368C>T (p.Ile1456=) rs1592915963 0.00001
NM_015335.5(MED13L):c.4373A>G (p.Lys1458Arg) rs776268079 0.00001
NM_015335.5(MED13L):c.4382G>A (p.Arg1461His) rs543711219 0.00001
NM_015335.5(MED13L):c.4386C>T (p.Asp1462=) rs760971347 0.00001
NM_015335.5(MED13L):c.4461T>G (p.Pro1487=) rs1877532807 0.00001
NM_015335.5(MED13L):c.4468G>A (p.Gly1490Ser) rs749956782 0.00001
NM_015335.5(MED13L):c.4471G>A (p.Glu1491Lys) rs757111256 0.00001
NM_015335.5(MED13L):c.4478A>C (p.Asn1493Thr) rs1294988714 0.00001
NM_015335.5(MED13L):c.4484A>G (p.Asn1495Ser) rs1005060536 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.4520G>A (p.Arg1507His) rs774267211 0.00001
NM_015335.5(MED13L):c.4569A>G (p.Leu1523=) rs199567092 0.00001
NM_015335.5(MED13L):c.4576C>A (p.Pro1526Thr) rs752521430 0.00001
NM_015335.5(MED13L):c.4622C>T (p.Thr1541Met) rs773553862 0.00001
NM_015335.5(MED13L):c.4625C>A (p.Pro1542Gln) rs746833121 0.00001
NM_015335.5(MED13L):c.4693A>C (p.Thr1565Pro) rs1261763875 0.00001
NM_015335.5(MED13L):c.473A>G (p.Asn158Ser) rs781607336 0.00001
NM_015335.5(MED13L):c.4748C>G (p.Ser1583Cys) rs1181249892 0.00001
NM_015335.5(MED13L):c.4766C>T (p.Ser1589Leu) rs758612829 0.00001
NM_015335.5(MED13L):c.4831G>A (p.Val1611Ile) rs778049221 0.00001
NM_015335.5(MED13L):c.4859G>A (p.Gly1620Asp) rs775899433 0.00001
NM_015335.5(MED13L):c.4873A>G (p.Arg1625Gly) rs769363083 0.00001
NM_015335.5(MED13L):c.4875A>G (p.Arg1625=) rs1311202612 0.00001
NM_015335.5(MED13L):c.4877C>T (p.Thr1626Met) rs911625539 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.4953G>A (p.Glu1651=) rs779112405 0.00001
NM_015335.5(MED13L):c.4955+13_4955+14insAAT rs750980622 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.4957G>A (p.Val1653Ile) rs151181388 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.5057C>A (p.Thr1686Lys) rs1877397719 0.00001
NM_015335.5(MED13L):c.5176A>G (p.Ile1726Val) rs140835810 0.00001
NM_015335.5(MED13L):c.5235A>G (p.Gln1745=) rs766326918 0.00001
NM_015335.5(MED13L):c.5294A>G (p.Gln1765Arg) rs369933421 0.00001
NM_015335.5(MED13L):c.5365-16T>C rs774928015 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.5457G>A (p.Ala1819=) rs749664477 0.00001
NM_015335.5(MED13L):c.5462A>G (p.Gln1821Arg) rs1876884436 0.00001
NM_015335.5(MED13L):c.5466A>G (p.Lys1822=) rs139348045 0.00001
NM_015335.5(MED13L):c.546G>A (p.Glu182=) rs781132536 0.00001
NM_015335.5(MED13L):c.5470A>G (p.Asn1824Asp) rs1876883847 0.00001
NM_015335.5(MED13L):c.5510G>A (p.Arg1837His) rs565032784 0.00001
NM_015335.5(MED13L):c.5603A>C (p.Lys1868Thr) rs565360797 0.00001
NM_015335.5(MED13L):c.578A>G (p.Asn193Ser) rs531397958 0.00001
NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp) rs1342461504 0.00001
NM_015335.5(MED13L):c.57C>A (p.Ser19=) rs1060504702 0.00001
NM_015335.5(MED13L):c.5831C>T (p.Ser1944Phe) rs771909088 0.00001
NM_015335.5(MED13L):c.583G>A (p.Glu195Lys) rs374748495 0.00001
NM_015335.5(MED13L):c.5891-8C>A rs200004771 0.00001
NM_015335.5(MED13L):c.5946A>G (p.Ser1982=) rs138580123 0.00001
NM_015335.5(MED13L):c.5957A>G (p.Asn1986Ser) rs780504785 0.00001
NM_015335.5(MED13L):c.59A>G (p.Asn20Ser) rs1034459470 0.00001
NM_015335.5(MED13L):c.6013A>T (p.Ile2005Phe) rs1876518341 0.00001
NM_015335.5(MED13L):c.6067+16G>A rs766254994 0.00001
NM_015335.5(MED13L):c.6068A>G (p.Asp2023Gly) rs121918333 0.00001
NM_015335.5(MED13L):c.6138C>T (p.Asn2046=) rs1876391939 0.00001
NM_015335.5(MED13L):c.6184C>T (p.Pro2062Ser) rs1413572367 0.00001
NM_015335.5(MED13L):c.625+15T>G rs769590492 0.00001
NM_015335.5(MED13L):c.625+16C>G rs747657031 0.00001
NM_015335.5(MED13L):c.626-12T>C rs1879960776 0.00001
NM_015335.5(MED13L):c.6279G>A (p.Gln2093=) rs140340239 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.6387+20A>G rs764431907 0.00001
NM_015335.5(MED13L):c.6392C>T (p.Ser2131Leu) rs1875915792 0.00001
NM_015335.5(MED13L):c.6441C>G (p.Ala2147=) rs1448108995 0.00001
NM_015335.5(MED13L):c.6454C>T (p.Arg2152Trp) rs755044661 0.00001
NM_015335.5(MED13L):c.6501-18G>C rs966579813 0.00001
NM_015335.5(MED13L):c.6579C>T (p.Pro2193=) rs148564746 0.00001
NM_015335.5(MED13L):c.6616A>G (p.Ile2206Val) rs781079171 0.00001
NM_015335.5(MED13L):c.72+10C>T rs779448093 0.00001
NM_015335.5(MED13L):c.731C>T (p.Pro244Leu) rs775015157 0.00001
NM_015335.5(MED13L):c.732G>A (p.Pro244=) rs1359784128 0.00001
NM_015335.5(MED13L):c.780A>G (p.Gly260=) rs755169714 0.00001
NM_015335.5(MED13L):c.805G>A (p.Val269Ile) rs1879944991 0.00001
NM_015335.5(MED13L):c.813A>G (p.Val271=) rs763616244 0.00001
NM_015335.5(MED13L):c.861C>A (p.Ile287=) rs61756230 0.00001
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu) rs537593859 0.00001
NM_015335.5(MED13L):c.879G>A (p.Pro293=) rs140586744 0.00001
NM_015335.5(MED13L):c.898A>T (p.Ser300Cys) rs1325524709 0.00001
GRCh37/hg19 12q24.21(chr12:115882666-116463228)x3
GRCh37/hg19 12q24.21(chr12:116064267-116750726)x1
GRCh37/hg19 12q24.21(chr12:116299467-116528515)x3
GRCh37/hg19 12q24.21(chr12:116314744-116499832)x3
GRCh37/hg19 12q24.21(chr12:116318205-116408746)x3
GRCh37/hg19 12q24.21(chr12:116321989-116681294)x3
GRCh37/hg19 12q24.21(chr12:116326288-116417238)x3
GRCh37/hg19 12q24.21(chr12:116327565-116409453)x3
GRCh37/hg19 12q24.21(chr12:116374312-116535323)
GRCh37/hg19 12q24.21(chr12:116399137-116714901)x3
GRCh37/hg19 12q24.21(chr12:116414991-116639877)x3
GRCh37/hg19 12q24.21(chr12:116417092-116639877)x3
GRCh37/hg19 12q24.21(chr12:116417092-116698142)x3
GRCh37/hg19 12q24.21(chr12:116443463-116457804)x1
GRCh37/hg19 12q24.21(chr12:116446308-116638445)
GRCh37/hg19 12q24.21(chr12:116448190-116603459)x3
GRCh37/hg19 12q24.21(chr12:116456529-116488520)x1
GRCh37/hg19 12q24.21(chr12:116462247-116603459)x1
GRCh37/hg19 12q24.21(chr12:116463228-116535323)
GRCh37/hg19 12q24.21(chr12:116472293-116558850)x2
GRCh37/hg19 12q24.21(chr12:116481669-116569556)x1
GRCh37/hg19 12q24.21(chr12:116481670-116648914)x3
GRCh37/hg19 12q24.21(chr12:116484240-116564043)
GRCh37/hg19 12q24.21(chr12:116497982-116534949)x1
GRCh37/hg19 12q24.21(chr12:116503127-116558092)x1
GRCh37/hg19 12q24.21(chr12:116523800-116581474)
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
GRCh37/hg19 12q24.21(chr12:116534474-116549317)x1
GRCh37/hg19 12q24.21(chr12:116535307-116557569)x1
GRCh37/hg19 12q24.21(chr12:116622732-116685976)
GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1
GRCh37/hg19 12q24.21(chr12:116693044-116725907)x1
GRCh38/hg38 12q24.21(chr12:115996285-116022906)x3
GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1
NC_000012.11:g.(116460407_116534473)_(116549318_116675272)del
NC_000012.11:g.(?_116418535)_(116420428_?)del
NC_000012.11:g.(?_116440808)_(116440907_?)del
NC_000012.11:g.(?_116534454)_(116534577_?)del
NC_000012.11:g.(?_116534454)_(116549337_?)del
NC_000012.11:g.(?_116534474)_(116675510_?)del
NC_000012.12:g.(?_115961246)_(116096772_?)del
NC_000012.12:g.(?_115982183)_(116022795_?)del
NC_000012.12:g.115970663_115970665delinsTAC rs1555241160
NC_000012.12:g.115991433_115991435delinsA rs1565997261
NC_000012.12:g.116022564_116022565delinsAT rs1555250044
NM_015335.5(MED13L):c.-9dup rs2138617119
NM_015335.5(MED13L):c.1003A>G (p.Ile335Val) rs2499943294
NM_015335.5(MED13L):c.1004T>A (p.Ile335Asn)
NM_015335.5(MED13L):c.1007T>C (p.Leu336Pro)
NM_015335.5(MED13L):c.1009+20G>A
NM_015335.5(MED13L):c.1009+5G>C rs1879910076
NM_015335.5(MED13L):c.1010-17A>G
NM_015335.5(MED13L):c.1010-4dup rs771044608
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp) rs2499932052
NM_015335.5(MED13L):c.1025T>C (p.Met342Thr) rs1879657937
NM_015335.5(MED13L):c.1033G>A (p.Ala345Thr)
NM_015335.5(MED13L):c.1036G>C (p.Ala346Pro) rs1286999510
NM_015335.5(MED13L):c.1042C>T (p.His348Tyr) rs972562200
NM_015335.5(MED13L):c.1044C>T (p.His348=) rs778123143
NM_015335.5(MED13L):c.1056A>G (p.Gln352=)
NM_015335.5(MED13L):c.1059T>C (p.Asp353=) rs1592949351
NM_015335.5(MED13L):c.1077_1093del (p.Met359fs) rs1879651226
NM_015335.5(MED13L):c.1086A>G (p.Pro362=) rs2137415289
NM_015335.5(MED13L):c.1095G>T (p.Ser365=)
NM_015335.5(MED13L):c.10G>A (p.Ala4Thr) rs1424018799
NM_015335.5(MED13L):c.1108C>T (p.Pro370Ser)
NM_015335.5(MED13L):c.1108_1111dup (p.Lys371fs) rs2137415111
NM_015335.5(MED13L):c.1109_1110del (p.Pro370fs) rs1566011496
NM_015335.5(MED13L):c.1128G>A (p.Met376Ile) rs1431509333
NM_015335.5(MED13L):c.1135C>T (p.Arg379Ter) rs2499931468
NM_015335.5(MED13L):c.1141T>C (p.Trp381Arg) rs2499931445
NM_015335.5(MED13L):c.115G>C (p.Gly39Arg)
NM_015335.5(MED13L):c.1160A>G (p.Asn387Ser)
NM_015335.5(MED13L):c.1162_1166del (p.Arg388fs) rs2499931368
NM_015335.5(MED13L):c.1164A>G (p.Arg388=) rs1566011405
NM_015335.5(MED13L):c.1167C>G (p.Thr389=)
NM_015335.5(MED13L):c.1175+20T>C rs1879642923
NM_015335.5(MED13L):c.1176-1G>A rs1566010195
NM_015335.5(MED13L):c.1176-3T>C rs745505181
NM_015335.5(MED13L):c.1186del (p.Met396fs) rs1064794013
NM_015335.5(MED13L):c.1192A>C (p.Thr398Pro) rs777722490
NM_015335.5(MED13L):c.1195C>A (p.Pro399Thr)
NM_015335.5(MED13L):c.1195C>T (p.Pro399Ser) rs1879500574
NM_015335.5(MED13L):c.119A>G (p.His40Arg) rs2500017215
NM_015335.5(MED13L):c.1218dup (p.Ser407Ter) rs2137404791
NM_015335.5(MED13L):c.1225C>G (p.Pro409Ala)
NM_015335.5(MED13L):c.1226C>T (p.Pro409Leu) rs2499924848
NM_015335.5(MED13L):c.1248T>G (p.Asp416Glu)
NM_015335.5(MED13L):c.124G>T (p.Asp42Tyr) rs1247142719
NM_015335.5(MED13L):c.124dup (p.Asp42fs) rs869312875
NM_015335.5(MED13L):c.1250dup (p.Thr418fs)
NM_015335.5(MED13L):c.1260A>C (p.Arg420Ser) rs768900677
NM_015335.5(MED13L):c.1267T>G (p.Cys423Gly) rs2499924754
NM_015335.5(MED13L):c.1271C>A (p.Ser424Tyr) rs1272102782
NM_015335.5(MED13L):c.1271C>T (p.Ser424Phe)
NM_015335.5(MED13L):c.1274G>C (p.Cys425Ser) rs1566010110
NM_015335.5(MED13L):c.1275T>C (p.Cys425=)
NM_015335.5(MED13L):c.1280+11A>G rs1879495014
NM_015335.5(MED13L):c.1280+1G>A rs2499924697
NM_015335.5(MED13L):c.1286A>G (p.Lys429Arg) rs2499914095
NM_015335.5(MED13L):c.128G>C (p.Cys43Ser)
NM_015335.5(MED13L):c.129T>C (p.Cys43=)
NM_015335.5(MED13L):c.1300_1302del (p.Cys434del) rs746994172
NM_015335.5(MED13L):c.1307T>C (p.Val436Ala)
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.1338A>C (p.Gln446His) rs753979653
NM_015335.5(MED13L):c.1338_1341dup (p.Gly448fs) rs1555248025
NM_015335.5(MED13L):c.1344G>A (p.Gly448=) rs2499913818
NM_015335.5(MED13L):c.134C>G (p.Pro45Arg) rs2500017153
NM_015335.5(MED13L):c.1355G>C (p.Gly452Ala) rs753312390
NM_015335.5(MED13L):c.1361C>G (p.Ser454Ter) rs1555248020
NM_015335.5(MED13L):c.1367C>G (p.Ser456Cys)
NM_015335.5(MED13L):c.1382C>T (p.Pro461Leu)
NM_015335.5(MED13L):c.1383T>G (p.Pro461=)
NM_015335.5(MED13L):c.1388C>A (p.Ala463Asp) rs2137386497
NM_015335.5(MED13L):c.1390TCT[1] (p.Ser465del) rs1566007803
NM_015335.5(MED13L):c.1396A>C (p.Lys466Gln) rs1566007801
NM_015335.5(MED13L):c.1399C>T (p.His467Tyr)
NM_015335.5(MED13L):c.1405dup (p.Thr469fs) rs2137386388
NM_015335.5(MED13L):c.1406C>T (p.Thr469Ile) rs1879225668
NM_015335.5(MED13L):c.1420G>T (p.Glu474Ter) rs1879225327
NM_015335.5(MED13L):c.1423A>G (p.Lys475Glu) rs1879225158
NM_015335.5(MED13L):c.1444A>G (p.Arg482Gly) rs1879223663
NM_015335.5(MED13L):c.1448C>T (p.Pro483Leu) rs2137386182
NM_015335.5(MED13L):c.145G>A (p.Ala49Thr) rs2500017127
NM_015335.5(MED13L):c.147C>A (p.Ala49=) rs1593196164
NM_015335.5(MED13L):c.1486G>T (p.Glu496Ter) rs2499913247
NM_015335.5(MED13L):c.148C>T (p.Pro50Ser)
NM_015335.5(MED13L):c.1496dup (p.Met499fs) rs1879220710
NM_015335.5(MED13L):c.14C>G (p.Ala5Gly)
NM_015335.5(MED13L):c.150A>T (p.Pro50=) rs778797919
NM_015335.5(MED13L):c.1516C>T (p.Gln506Ter) rs2137385850
NM_015335.5(MED13L):c.1541A>G (p.Asp514Gly)
NM_015335.5(MED13L):c.1543T>G (p.Ser515Ala) rs777986630
NM_015335.5(MED13L):c.1550T>C (p.Leu517Ser)
NM_015335.5(MED13L):c.1551A>T (p.Leu517Phe) rs765566328
NM_015335.5(MED13L):c.155A>G (p.Gln52Arg)
NM_015335.5(MED13L):c.1588G>C (p.Ala530Pro)
NM_015335.5(MED13L):c.1598C>T (p.Ser533Phe)
NM_015335.5(MED13L):c.1600A>G (p.Arg534Gly)
NM_015335.5(MED13L):c.1617A>G (p.Gln539=) rs200603975
NM_015335.5(MED13L):c.1629T>A (p.Asn543Lys) rs548984466
NM_015335.5(MED13L):c.1637A>G (p.Asp546Gly) rs2499912668
NM_015335.5(MED13L):c.1642C>T (p.Pro548Ser)
NM_015335.5(MED13L):c.1646A>G (p.His549Arg)
NM_015335.5(MED13L):c.1649C>T (p.Ser550Phe) rs1236040665
NM_015335.5(MED13L):c.1654A>C (p.Ile552Leu)
NM_015335.5(MED13L):c.1656A>G (p.Ile552Met) rs746110094
NM_015335.5(MED13L):c.1658C>A (p.Ser553Tyr) rs2499912508
NM_015335.5(MED13L):c.1663C>T (p.Leu555=)
NM_015335.5(MED13L):c.1684C>T (p.Gln562Ter) rs2137385115
NM_015335.5(MED13L):c.1689A>T (p.Pro563=) rs758760275
NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter) rs1555247936
NM_015335.5(MED13L):c.1691G>A (p.Arg564Gln)
NM_015335.5(MED13L):c.1704dup (p.Glu569fs) rs2499912315
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) rs869025286
NM_015335.5(MED13L):c.173T>A (p.Leu58Ter) rs1870211191
NM_015335.5(MED13L):c.1744del (p.Leu582fs) rs2499912120
NM_015335.5(MED13L):c.1745T>C (p.Leu582Pro) rs2499912113
NM_015335.5(MED13L):c.1758A>T (p.Gly586=) rs2499912069
NM_015335.5(MED13L):c.1759C>G (p.Leu587Val) rs2499912060
NM_015335.5(MED13L):c.1764A>G (p.Glu588=)
NM_015335.5(MED13L):c.1773G>A (p.Gln591=) rs3741768
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.1802T>C (p.Leu601Pro) rs2499911829
NM_015335.5(MED13L):c.1814G>A (p.Arg605Lys) rs2137384488
NM_015335.5(MED13L):c.1822C>G (p.Leu608Val)
NM_015335.5(MED13L):c.1828G>T (p.Ala610Ser) rs762794873
NM_015335.5(MED13L):c.1847C>G (p.Ala616Gly)
NM_015335.5(MED13L):c.1847C>T (p.Ala616Val)
NM_015335.5(MED13L):c.1852dup (p.Tyr618fs) rs1879198833
NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs) rs1555247853
NM_015335.5(MED13L):c.1861A>G (p.Ile621Val) rs1166072333
NM_015335.5(MED13L):c.1884A>T (p.Ser628=) rs2499911437
NM_015335.5(MED13L):c.190C>G (p.Leu64Val) rs2500017004
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=) rs752853245
NM_015335.5(MED13L):c.1941_1948del (p.Pro648fs) rs1592941857
NM_015335.5(MED13L):c.1946C>T (p.Pro649Leu)
NM_015335.5(MED13L):c.1952T>G (p.Leu651Arg) rs2499911055
NM_015335.5(MED13L):c.1965A>G (p.Arg655=)
NM_015335.5(MED13L):c.1971del (p.Asp657fs) rs1555247805
NM_015335.5(MED13L):c.1973C>T (p.Ala658Val) rs1370758314
NM_015335.5(MED13L):c.1990T>G (p.Ser664Ala)
NM_015335.5(MED13L):c.1991C>T (p.Ser664Leu)
NM_015335.5(MED13L):c.1992dup (p.Glu665fs) rs1057518424
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs) rs1555247800
NM_015335.5(MED13L):c.1999A>G (p.Thr667Ala) rs1465270113
NM_015335.5(MED13L):c.199A>G (p.Asn67Asp) rs2500016983
NM_015335.5(MED13L):c.19T>C (p.Trp7Arg)
NM_015335.5(MED13L):c.1A>G (p.Met1Val) rs1131691818
NM_015335.5(MED13L):c.1A>T (p.Met1Leu) rs1131691818
NM_015335.5(MED13L):c.2012+10CT[2] rs564143152
NM_015335.5(MED13L):c.2013-10_2013-9insTG rs1555247737
NM_015335.5(MED13L):c.2013-10_2013-9insTTG rs1555247737
NM_015335.5(MED13L):c.2013-10del rs542425590
NM_015335.5(MED13L):c.2013-14_2013-10del rs542425590
NM_015335.5(MED13L):c.2013-1G>T rs778958638
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.2013-7C>G rs199749418
NM_015335.5(MED13L):c.2013-7_2013-6del rs2137379598
NM_015335.5(MED13L):c.2013-8_2013-7insTTTTTTTTTTTTTTTTTT rs771649019
NM_015335.5(MED13L):c.2013A>T (p.Arg671Ser)
NM_015335.5(MED13L):c.2016C>T (p.Leu672=)
NM_015335.5(MED13L):c.2027C>T (p.Pro676Leu)
NM_015335.5(MED13L):c.2032_2035del (p.Lys678fs) rs2499906615
NM_015335.5(MED13L):c.2036G>A (p.Arg679Gln) rs1366343903
NM_015335.5(MED13L):c.2049G>T (p.Trp683Cys)
NM_015335.5(MED13L):c.2056A>G (p.Lys686Glu) rs139048741
NM_015335.5(MED13L):c.2059C>T (p.Gln687Ter) rs1555247699
NM_015335.5(MED13L):c.2061G>T (p.Gln687His) rs770538291
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter) rs2137378964
NM_015335.5(MED13L):c.2077C>A (p.Leu693Ile)
NM_015335.5(MED13L):c.2081A>G (p.His694Arg) rs2499906418
NM_015335.5(MED13L):c.2090_2091insGAGCCACT (p.Asp697fs) rs1879125566
NM_015335.5(MED13L):c.2107C>T (p.Gln703Ter) rs1555247672
NM_015335.5(MED13L):c.2110C>T (p.Gln704Ter) rs2499906294
NM_015335.5(MED13L):c.2114C>G (p.Pro705Arg) rs2137378723
NM_015335.5(MED13L):c.215G>A (p.Trp72Ter)
NM_015335.5(MED13L):c.2175C>T (p.Tyr725=) rs1228712940
NM_015335.5(MED13L):c.217C>T (p.Arg73Cys) rs2500016944
NM_015335.5(MED13L):c.2183C>T (p.Thr728Ile) rs2499906060
NM_015335.5(MED13L):c.2189A>G (p.Asn730Ser) rs2137378538
NM_015335.5(MED13L):c.2206G>A (p.Gly736Arg)
NM_015335.5(MED13L):c.2226G>C (p.Leu742=) rs2499905855
NM_015335.5(MED13L):c.2227A>C (p.Lys743Gln) rs2499905849
NM_015335.5(MED13L):c.2238+13dup rs1353670419
NM_015335.5(MED13L):c.2239-11T>G rs2137373566
NM_015335.5(MED13L):c.2239-2A>G rs1555247469
NM_015335.5(MED13L):c.2239-3_2239-2del rs761911776
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu) rs368050346
NM_015335.5(MED13L):c.2243A>G (p.Glu748Gly)
NM_015335.5(MED13L):c.2249G>A (p.Gly750Glu)
NM_015335.5(MED13L):c.2268C>G (p.Val756=) rs1879047578
NM_015335.5(MED13L):c.2281C>A (p.His761Asn) rs2499901614
NM_015335.5(MED13L):c.2289G>T (p.Thr763=) rs370795699
NM_015335.5(MED13L):c.2311G>A (p.Ala771Thr) rs2499901460
NM_015335.5(MED13L):c.2316_2317del (p.Met772fs) rs1566005476
NM_015335.5(MED13L):c.2318C>T (p.Ser773Phe) rs2499901394
NM_015335.5(MED13L):c.2318del (p.Ser773fs) rs1879044510
NM_015335.5(MED13L):c.2320del (p.Ile774fs) rs2137373056
NM_015335.5(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_015335.5(MED13L):c.2340_2343del (p.Thr781fs) rs1879042937
NM_015335.5(MED13L):c.2344+13A>G rs2499901273
NM_015335.5(MED13L):c.2345-1G>T
NM_015335.5(MED13L):c.2345-3C>G rs1592939069
NM_015335.5(MED13L):c.2345-4A>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.2363C>G (p.Ala788Gly)
NM_015335.5(MED13L):c.2363C>T (p.Ala788Val) rs1299165203
NM_015335.5(MED13L):c.2399dup (p.Thr801fs) rs1135401766
NM_015335.5(MED13L):c.240C>T (p.Cys80=) rs1593196040
NM_015335.5(MED13L):c.2418C>T (p.Ser806=)
NM_015335.5(MED13L):c.2452G>A (p.Asp818Asn)
NM_015335.5(MED13L):c.2465T>G (p.Leu822Arg) rs1879016263
NM_015335.5(MED13L):c.2466T>C (p.Leu822=)
NM_015335.5(MED13L):c.2469+18A>G rs761274971
NM_015335.5(MED13L):c.2469+20A>G
NM_015335.5(MED13L):c.2470-17A>G
NM_015335.5(MED13L):c.2470-20A>G rs2499891704
NM_015335.5(MED13L):c.2470-5C>G rs1162894958
NM_015335.5(MED13L):c.2472T>G (p.Ala824=)
NM_015335.5(MED13L):c.2479C>T (p.Pro827Ser) rs2499891605
NM_015335.5(MED13L):c.2483C>T (p.Ala828Val) rs1878844223
NM_015335.5(MED13L):c.2502G>A (p.Met834Ile)
NM_015335.5(MED13L):c.2504del (p.Pro835fs) rs1555246952
NM_015335.5(MED13L):c.2523C>T (p.Asp841=) rs2499891439
NM_015335.5(MED13L):c.2524C>T (p.Arg842Ter) rs1064793483
NM_015335.5(MED13L):c.2530C>T (p.Leu844Phe) rs1361705924
NM_015335.5(MED13L):c.2536A>G (p.Lys846Glu)
NM_015335.5(MED13L):c.2539G>A (p.Asp847Asn) rs1878840373
NM_015335.5(MED13L):c.2553T>C (p.Ala851=)
NM_015335.5(MED13L):c.2558C>T (p.Pro853Leu) rs1878839436
NM_015335.5(MED13L):c.2569+11A>G
NM_015335.5(MED13L):c.2569+16T>A rs2499891168
NM_015335.5(MED13L):c.2569+8G>A
NM_015335.5(MED13L):c.2570-14T>C rs773510377
NM_015335.5(MED13L):c.2570-15A>T rs2499875603
NM_015335.5(MED13L):c.2570-17_2570-16del
NM_015335.5(MED13L):c.2570-1G>T rs2137331044
NM_015335.5(MED13L):c.2570-2A>G
NM_015335.5(MED13L):c.2570-74T>A rs11067873
NM_015335.5(MED13L):c.2570-8A>T rs776593973
NM_015335.5(MED13L):c.2572G>T (p.Val858Phe)
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.2581T>G (p.Leu861Val) rs1592930332
NM_015335.5(MED13L):c.2584C>T (p.Gln862Ter) rs2499875454
NM_015335.5(MED13L):c.2585A>C (p.Gln862Pro) rs2499875443
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015335.5(MED13L):c.2591T>A (p.Met864Lys) rs1057520056
NM_015335.5(MED13L):c.2593T>C (p.Phe865Leu)
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.5(MED13L):c.2600C>T (p.Thr867Ile) rs1555246143
NM_015335.5(MED13L):c.2604A>G (p.Pro868=) rs772409015
NM_015335.5(MED13L):c.2605C>A (p.Pro869Thr) rs1057524103
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser) rs1057524103
NM_015335.5(MED13L):c.2606C>T (p.Pro869Leu) rs1878458116
NM_015335.5(MED13L):c.2623C>G (p.Pro875Ala)
NM_015335.5(MED13L):c.2633C>T (p.Ser878Phe) rs1064794939
NM_015335.5(MED13L):c.2635C>A (p.Pro879Thr) rs2137330781
NM_015335.5(MED13L):c.2635C>G (p.Pro879Ala) rs2137330781
NM_015335.5(MED13L):c.2636C>T (p.Pro879Leu) rs1064795068
NM_015335.5(MED13L):c.2636del (p.Pro879fs)
NM_015335.5(MED13L):c.263G>A (p.Trp88Ter) rs1870202051
NM_015335.5(MED13L):c.2662A>G (p.Ser888Gly) rs1242612514
NM_015335.5(MED13L):c.2674G>C (p.Val892Leu) rs1169537877
NM_015335.5(MED13L):c.269A>G (p.Asp90Gly) rs2138459001
NM_015335.5(MED13L):c.26C>T (p.Ala9Val) rs2500191509
NM_015335.5(MED13L):c.2707G>T (p.Val903Phe)
NM_015335.5(MED13L):c.270T>C (p.Asp90=)
NM_015335.5(MED13L):c.2713A>C (p.Met905Leu) rs2499875034
NM_015335.5(MED13L):c.2744T>C (p.Met915Thr) rs2499874925
NM_015335.5(MED13L):c.2762del (p.Gly920_Leu921insTer) rs2499874839
NM_015335.5(MED13L):c.2776C>A (p.Pro926Thr) rs947804085
NM_015335.5(MED13L):c.2779G>A (p.Glu927Lys)
NM_015335.5(MED13L):c.2779_2782dup (p.Glu928fs)
NM_015335.5(MED13L):c.278A>C (p.Asn93Thr)
NM_015335.5(MED13L):c.278del (p.Asn93fs) rs2500016820
NM_015335.5(MED13L):c.2790+18A>G rs2499874606
NM_015335.5(MED13L):c.2809A>C (p.Lys937Gln) rs758431231
NM_015335.5(MED13L):c.2824C>T (p.Gln942Ter)
NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu) rs764385703
NM_015335.5(MED13L):c.2844del (p.Met949fs) rs35760315
NM_015335.5(MED13L):c.2847G>A (p.Met949Ile) rs2499872967
NM_015335.5(MED13L):c.2854C>T (p.Pro952Ser) rs2499872942
NM_015335.5(MED13L):c.2886A>C (p.Leu962=) rs2499872846
NM_015335.5(MED13L):c.2908T>C (p.Cys970Arg) rs771745124
NM_015335.5(MED13L):c.2911C>T (p.Leu971=) rs2137328447
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.2925A>T (p.Ser975=) rs371364463
NM_015335.5(MED13L):c.2930C>T (p.Ala977Val) rs1131691671
NM_015335.5(MED13L):c.2932A>C (p.Ile978Leu)
NM_015335.5(MED13L):c.2932A>G (p.Ile978Val) rs377007447
NM_015335.5(MED13L):c.2936C>T (p.Pro979Leu)
NM_015335.5(MED13L):c.293_294del (p.Ile98fs) rs1870200055
NM_015335.5(MED13L):c.2944A>T (p.Ile982Phe) rs2137328252
NM_015335.5(MED13L):c.2950C>T (p.Gln984Ter) rs1376289620
NM_015335.5(MED13L):c.2956C>T (p.Pro986Ser)
NM_015335.5(MED13L):c.2965C>A (p.Pro989Thr)
NM_015335.5(MED13L):c.2983A>G (p.Arg995Gly) rs2499872421
NM_015335.5(MED13L):c.2987A>G (p.Asp996Gly)
NM_015335.5(MED13L):c.2996+1G>A rs1878413465
NM_015335.5(MED13L):c.2996+7A>G rs775346686
NM_015335.5(MED13L):c.2996A>G (p.Asn999Ser) rs1420950414
NM_015335.5(MED13L):c.2996A>T (p.Asn999Ile) rs1420950414
NM_015335.5(MED13L):c.2997-159dup rs879503143
NM_015335.5(MED13L):c.2997-17G>A
NM_015335.5(MED13L):c.2997-2A>G rs1198136487
NM_015335.5(MED13L):c.3018C>T (p.Ser1006=) rs369196762
NM_015335.5(MED13L):c.3032A>G (p.Asp1011Gly) rs1878087235
NM_015335.5(MED13L):c.3033C>G (p.Asp1011Glu) rs1878087028
NM_015335.5(MED13L):c.3034T>C (p.Tyr1012His)
NM_015335.5(MED13L):c.3034del (p.Tyr1012fs) rs2499858354
NM_015335.5(MED13L):c.3046C>T (p.Pro1016Ser)
NM_015335.5(MED13L):c.3060A>C (p.Thr1020=) rs2499858262
NM_015335.5(MED13L):c.3090_3093del (p.Ser1031fs) rs1555245254
NM_015335.5(MED13L):c.3108A>T (p.Gly1036=)
NM_015335.5(MED13L):c.311-10_311-4del rs150398214
NM_015335.5(MED13L):c.311-15dup
NM_015335.5(MED13L):c.311-1G>A rs1219697193
NM_015335.5(MED13L):c.311-20T>C rs967376564
NM_015335.5(MED13L):c.311-21_311-16del rs2500384055
NM_015335.5(MED13L):c.311-21_311-17del
NM_015335.5(MED13L):c.311-4dup rs150398214
NM_015335.5(MED13L):c.3123A>C (p.Pro1041=) rs2499857993
NM_015335.5(MED13L):c.3126A>C (p.Ala1042=)
NM_015335.5(MED13L):c.3128C>A (p.Thr1043Asn)
NM_015335.5(MED13L):c.3129C>T (p.Thr1043=) rs1157981828
NM_015335.5(MED13L):c.3133C>T (p.Arg1045Cys) rs1565997620
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter) rs2137307992
NM_015335.5(MED13L):c.3161C>T (p.Pro1054Leu) rs2499857872
NM_015335.5(MED13L):c.3170C>G (p.Pro1057Arg)
NM_015335.5(MED13L):c.3173G>A (p.Arg1058Lys) rs2499857830
NM_015335.5(MED13L):c.3179C>G (p.Pro1060Arg)
NM_015335.5(MED13L):c.3187G>A (p.Gly1063Arg)
NM_015335.5(MED13L):c.3187G>T (p.Gly1063Trp) rs2137307892
NM_015335.5(MED13L):c.3191dup (p.Thr1065fs)
NM_015335.5(MED13L):c.319dup (p.Glu107fs) rs2137899583
NM_015335.5(MED13L):c.3205C>T (p.Gln1069Ter) rs2137307819
NM_015335.5(MED13L):c.3213T>C (p.Ser1071=) rs776386969
NM_015335.5(MED13L):c.3227G>A (p.Ser1076Asn) rs1878075866
NM_015335.5(MED13L):c.3229A>G (p.Thr1077Ala) rs1592924207
NM_015335.5(MED13L):c.3247G>C (p.Ala1083Pro)
NM_015335.5(MED13L):c.3255C>T (p.Thr1085=) rs2499857531
NM_015335.5(MED13L):c.3257C>A (p.Pro1086His)
NM_015335.5(MED13L):c.3269G>T (p.Arg1090Leu) rs888549047
NM_015335.5(MED13L):c.3270G>T (p.Arg1090=)
NM_015335.5(MED13L):c.3278A>G (p.Asn1093Ser)
NM_015335.5(MED13L):c.327C>T (p.Leu109=) rs1874076984
NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs) rs1878068615
NM_015335.5(MED13L):c.3285G>A (p.Val1095=) rs2499857372
NM_015335.5(MED13L):c.3291C>T (p.Pro1097=)
NM_015335.5(MED13L):c.3295A>G (p.Thr1099Ala) rs1270331554
NM_015335.5(MED13L):c.329G>A (p.Trp110Ter) rs2137899543
NM_015335.5(MED13L):c.3309del (p.Glu1105fs) rs2137307119
NM_015335.5(MED13L):c.3319del (p.His1107fs) rs2499857175
NM_015335.5(MED13L):c.3322A>G (p.Ser1108Gly)
NM_015335.5(MED13L):c.3329A>T (p.Tyr1110Phe)
NM_015335.5(MED13L):c.3336C>T (p.Thr1112=) rs2499857103
NM_015335.5(MED13L):c.3343C>A (p.Leu1115Ile) rs1473984872
NM_015335.5(MED13L):c.3346_3347dup (p.Asp1117fs) rs2137306954
NM_015335.5(MED13L):c.3347C>A (p.Ser1116Tyr) rs1878063256
NM_015335.5(MED13L):c.3369T>C (p.Phe1123=) rs1878061921
NM_015335.5(MED13L):c.3376_3381del (p.Arg1126_Asn1127del) rs2499856930
NM_015335.5(MED13L):c.3380del (p.Asn1127fs) rs2137306817
NM_015335.5(MED13L):c.3381del (p.Phe1128fs) rs2499856919
NM_015335.5(MED13L):c.3383_3384del (p.Asn1127_Phe1128insTer) rs2499856913
NM_015335.5(MED13L):c.3385_3391delinsAAA (p.Asp1129fs)
NM_015335.5(MED13L):c.338G>T (p.Gly113Val) rs2500383513
NM_015335.5(MED13L):c.3396C>A (p.Cys1132Ter)
NM_015335.5(MED13L):c.3401G>A (p.Cys1134Tyr)
NM_015335.5(MED13L):c.3409A>C (p.Asn1137His) rs1878060112
NM_015335.5(MED13L):c.3425G>A (p.Gly1142Glu) rs2499856777
NM_015335.5(MED13L):c.3428C>T (p.Ala1143Val) rs763939921
NM_015335.5(MED13L):c.3450C>A (p.Pro1150=) rs78561507
NM_015335.5(MED13L):c.3451G>A (p.Asp1151Asn) rs2499856682
NM_015335.5(MED13L):c.3459del (p.Asn1154fs) rs2499856672
NM_015335.5(MED13L):c.3461A>G (p.Asn1154Ser) rs867320311
NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter) rs1555245108
NM_015335.5(MED13L):c.3476G>A (p.Arg1159His) rs2499856607
NM_015335.5(MED13L):c.3479G>A (p.Cys1160Tyr) rs1565997289
NM_015335.5(MED13L):c.347A>G (p.Tyr116Cys)
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile) rs1592923871
NM_015335.5(MED13L):c.3487G>A (p.Gly1163Arg)
NM_015335.5(MED13L):c.3498G>A (p.Ala1166=) rs200960898
NM_015335.5(MED13L):c.34del (p.Ala12fs) rs1593238375
NM_015335.5(MED13L):c.3503T>C (p.Met1168Thr) rs2499856539
NM_015335.5(MED13L):c.3522C>T (p.Tyr1174=) rs1878054259
NM_015335.5(MED13L):c.3523A>G (p.Asn1175Asp) rs146115959
NM_015335.5(MED13L):c.3524A>G (p.Asn1175Ser) rs2499856443
NM_015335.5(MED13L):c.3538C>G (p.Leu1180Val)
NM_015335.5(MED13L):c.3552G>C (p.Leu1184Phe) rs2499856340
NM_015335.5(MED13L):c.3556A>G (p.Ile1186Val) rs969345718
NM_015335.5(MED13L):c.3595A>G (p.Arg1199Gly) rs1878049943
NM_015335.5(MED13L):c.3595_3596del (p.Arg1199fs) rs2499856135
NM_015335.5(MED13L):c.3596G>A (p.Arg1199Lys) rs1878049532
NM_015335.5(MED13L):c.3597G>T (p.Arg1199Ser)
NM_015335.5(MED13L):c.3611G>A (p.Cys1204Tyr)
NM_015335.5(MED13L):c.3627_3630del (p.Pro1210fs) rs2499855976
NM_015335.5(MED13L):c.3630T>A (p.Pro1210=) rs2499855971
NM_015335.5(MED13L):c.3658G>A (p.Glu1220Lys) rs867266643
NM_015335.5(MED13L):c.3659A>G (p.Glu1220Gly) rs1878044979
NM_015335.5(MED13L):c.3666C>T (p.Pro1222=) rs2137305799
NM_015335.5(MED13L):c.3667A>G (p.Ile1223Val) rs1878044534
NM_015335.5(MED13L):c.3677TCC[3] (p.Leu1229del) rs1365521051
NM_015335.5(MED13L):c.3682C>G (p.Leu1228Val)
NM_015335.5(MED13L):c.3682C>T (p.Leu1228Phe) rs768950576
NM_015335.5(MED13L):c.3689A>G (p.Gln1230Arg) rs1878042874
NM_015335.5(MED13L):c.3694C>A (p.Gln1232Lys) rs2499855641
NM_015335.5(MED13L):c.3700A>G (p.Thr1234Ala) rs140989788
NM_015335.5(MED13L):c.3711T>C (p.Phe1237=)
NM_015335.5(MED13L):c.3718C>G (p.Leu1240Val) rs777146447
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=) rs755712233
NM_015335.5(MED13L):c.3743C>G (p.Ser1248Cys) rs1264848005
NM_015335.5(MED13L):c.374C>T (p.Ala125Val) rs2500383363
NM_015335.5(MED13L):c.3757A>G (p.Thr1253Ala)
NM_015335.5(MED13L):c.3760_3761del (p.Leu1254fs) rs2137305263
NM_015335.5(MED13L):c.3765del (p.Cys1256fs) rs147976828
NM_015335.5(MED13L):c.3768T>C (p.Cys1256=) rs765216049
NM_015335.5(MED13L):c.3779del (p.Ser1260fs) rs2499855262
NM_015335.5(MED13L):c.3783T>C (p.Tyr1261=) rs2499855244
NM_015335.5(MED13L):c.3787C>T (p.Arg1263Trp) rs761966368
NM_015335.5(MED13L):c.3789G>C (p.Arg1263=) rs1878034483
NM_015335.5(MED13L):c.3790G>A (p.Val1264Met)
NM_015335.5(MED13L):c.3797C>T (p.Ala1266Val)
NM_015335.5(MED13L):c.379del (p.His127fs)
NM_015335.5(MED13L):c.3806A>G (p.Asn1269Ser) rs2499855113
NM_015335.5(MED13L):c.3828T>A (p.Phe1276Leu) rs1878031116
NM_015335.5(MED13L):c.3848G>A (p.Arg1283Gln) rs747696546
NM_015335.5(MED13L):c.3868A>G (p.Thr1290Ala)
NM_015335.5(MED13L):c.3882G>A (p.Val1294=) rs2499854689
NM_015335.5(MED13L):c.3886G>A (p.Glu1296Lys)
NM_015335.5(MED13L):c.3895G>A (p.Val1299Met) rs1565996916
NM_015335.5(MED13L):c.3911_3912del (p.Val1304fs) rs1555244975
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr) rs1231044656
NM_015335.5(MED13L):c.3916T>C (p.Ser1306Pro)
NM_015335.5(MED13L):c.3920G>C (p.Trp1307Ser) rs2499854489
NM_015335.5(MED13L):c.3925C>T (p.His1309Tyr)
NM_015335.5(MED13L):c.3927C>T (p.His1309=) rs139460643
NM_015335.5(MED13L):c.3929G>A (p.Ser1310Asn) rs772703700
NM_015335.5(MED13L):c.392_395del (p.Glu131fs) rs1874072493
NM_015335.5(MED13L):c.3930C>G (p.Ser1310Arg) rs769509460
NM_015335.5(MED13L):c.3932A>G (p.Asn1311Ser) rs2499854439
NM_015335.5(MED13L):c.3934+10C>T
NM_015335.5(MED13L):c.3935-1G>A rs1565995146
NM_015335.5(MED13L):c.3935-2A>G rs1555244216
NM_015335.5(MED13L):c.3935-9C>A rs753138376
NM_015335.5(MED13L):c.3938T>G (p.Leu1313Arg) rs759773785
NM_015335.5(MED13L):c.3942_3943del (p.Ile1315fs) rs1555244212
NM_015335.5(MED13L):c.3943A>T (p.Ile1315Phe)
NM_015335.5(MED13L):c.395+1G>A rs1874072309
NM_015335.5(MED13L):c.395+8A>G rs1399208716
NM_015335.5(MED13L):c.395+9A>G rs2500383190
NM_015335.5(MED13L):c.3960C>T (p.Ser1320=) rs1877754261
NM_015335.5(MED13L):c.3961C>T (p.Gln1321Ter) rs2499842872
NM_015335.5(MED13L):c.4002C>G (p.Leu1334=) rs772069193
NM_015335.5(MED13L):c.4003C>T (p.Gln1335Ter)
NM_015335.5(MED13L):c.4004A>G (p.Gln1335Arg) rs2499842671
NM_015335.5(MED13L):c.4011_4024del (p.Ile1338fs) rs2499842648
NM_015335.5(MED13L):c.401T>C (p.Leu134Pro) rs1565875400
NM_015335.5(MED13L):c.401dup (p.Met135fs) rs1593039493
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) rs2137290227
NM_015335.5(MED13L):c.4025G>A (p.Arg1342His) rs1157874688
NM_015335.5(MED13L):c.4033A>G (p.Arg1345Gly) rs2137290173
NM_015335.5(MED13L):c.4041G>A (p.Trp1347Ter) rs2137290161
NM_015335.5(MED13L):c.404T>C (p.Met135Thr) rs752482619
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.4065A>G (p.Gly1355=) rs2499842472
NM_015335.5(MED13L):c.4068A>T (p.Pro1356=)
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4077G>A (p.Trp1359Ter) rs1565995034
NM_015335.5(MED13L):c.4081C>T (p.Gln1361Ter)
NM_015335.5(MED13L):c.4083del (p.Gln1361fs) rs1877748039
NM_015335.5(MED13L):c.4087del (p.His1363fs) rs2499842382
NM_015335.5(MED13L):c.409A>G (p.Lys137Glu)
NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala) rs1877746863
NM_015335.5(MED13L):c.4108_4114+3del rs2499842261
NM_015335.5(MED13L):c.4114+8C>A rs370491568
NM_015335.5(MED13L):c.4115-10G>C rs1031922673
NM_015335.5(MED13L):c.4120del (p.Glu1374fs) rs1877698147
NM_015335.5(MED13L):c.4123G>T (p.Glu1375Ter) rs1877697992
NM_015335.5(MED13L):c.4132G>T (p.Glu1378Ter) rs2499839774
NM_015335.5(MED13L):c.4136C>T (p.Pro1379Leu) rs2499839762
NM_015335.5(MED13L):c.4144A>G (p.Ile1382Val) rs142230139
NM_015335.5(MED13L):c.4147C>T (p.Pro1383Ser) rs2499839734
NM_015335.5(MED13L):c.4158G>C (p.Leu1386=) rs2137287371
NM_015335.5(MED13L):c.4161A>G (p.Val1387=) rs2137287341
NM_015335.5(MED13L):c.4183A>G (p.Thr1395Ala) rs1268946870
NM_015335.5(MED13L):c.4190C>T (p.Ser1397Leu) rs2137287209
NM_015335.5(MED13L):c.4203_4209del (p.Leu1401fs)
NM_015335.5(MED13L):c.4213G>T (p.Glu1405Ter) rs2137287115
NM_015335.5(MED13L):c.4217G>A (p.Arg1406Lys) rs1231977383
NM_015335.5(MED13L):c.4223T>G (p.Leu1408Trp)
NM_015335.5(MED13L):c.4224G>T (p.Leu1408Phe) rs1565994535
NM_015335.5(MED13L):c.4230C>A (p.Asp1410Glu) rs2137287044
NM_015335.5(MED13L):c.4233A>G (p.Pro1411=)
NM_015335.5(MED13L):c.4235A>G (p.Tyr1412Cys) rs1190857852
NM_015335.5(MED13L):c.4241G>C (p.Gly1414Ala)
NM_015335.5(MED13L):c.4259A>G (p.Tyr1420Cys) rs2137286817
NM_015335.5(MED13L):c.4271_4276delinsTTCCC (p.Cys1424fs) rs1877686983
NM_015335.5(MED13L):c.4277A>G (p.Glu1426Gly) rs1438954026
NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter) rs1877685759
NM_015335.5(MED13L):c.4293C>T (p.Leu1431=)
NM_015335.5(MED13L):c.4296A>T (p.Glu1432Asp)
NM_015335.5(MED13L):c.4298G>A (p.Gly1433Glu) rs2137286575
NM_015335.5(MED13L):c.4300G>A (p.Ala1434Thr) rs1363042572
NM_015335.5(MED13L):c.4330G>A (p.Val1444Ile) rs1191265317
NM_015335.5(MED13L):c.4338+5G>A rs1877682848
NM_015335.5(MED13L):c.4339-20G>T rs772341564
NM_015335.5(MED13L):c.4353del (p.Gln1452fs) rs2137278830
NM_015335.5(MED13L):c.4358A>C (p.His1453Pro) rs2499831679
NM_015335.5(MED13L):c.4379T>C (p.Leu1460Pro) rs2499831622
NM_015335.5(MED13L):c.437T>A (p.Phe146Tyr) rs2500281679
NM_015335.5(MED13L):c.4386C>A (p.Asp1462Glu) rs760971347
NM_015335.5(MED13L):c.4387G>A (p.Gly1463Arg) rs1555243607
NM_015335.5(MED13L):c.4396C>G (p.Arg1466Gly)
NM_015335.5(MED13L):c.4397G>T (p.Arg1466Leu)
NM_015335.5(MED13L):c.43G>T (p.Glu15Ter) rs1057520775
NM_015335.5(MED13L):c.4403dup (p.Thr1470fs) rs1131691764
NM_015335.5(MED13L):c.4405A>G (p.Lys1469Glu) rs1249794982
NM_015335.5(MED13L):c.4412_4413del (p.Val1471fs) rs1592915896
NM_015335.5(MED13L):c.4414G>A (p.Ala1472Thr) rs749844719
NM_015335.5(MED13L):c.4417C>T (p.Gln1473Ter) rs1877535811
NM_015335.5(MED13L):c.4427C>T (p.Thr1476Ile) rs1877534984
NM_015335.5(MED13L):c.4429G>A (p.Asp1477Asn)
NM_015335.5(MED13L):c.442C>T (p.Arg148Ter) rs1872666696
NM_015335.5(MED13L):c.443G>A (p.Arg148Gln) rs1461395322
NM_015335.5(MED13L):c.443G>C (p.Arg148Pro)
NM_015335.5(MED13L):c.4452del (p.Phe1484fs) rs1555243582
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter) rs1555243580
NM_015335.5(MED13L):c.4467_4473del (p.Ser1489fs) rs1877531485
NM_015335.5(MED13L):c.4471G>T (p.Glu1491Ter)
NM_015335.5(MED13L):c.4490C>A (p.Ser1497Tyr) rs763779891
NM_015335.5(MED13L):c.4495C>T (p.Leu1499Phe) rs2499831063
NM_015335.5(MED13L):c.4509G>A (p.Ala1503=)
NM_015335.5(MED13L):c.4509G>T (p.Ala1503=) rs544089602
NM_015335.5(MED13L):c.4531+17T>C rs2499830870
NM_015335.5(MED13L):c.4532-13T>G rs1284749965
NM_015335.5(MED13L):c.4532-20C>G rs1877486276
NM_015335.5(MED13L):c.4537T>C (p.Tyr1513His) rs926542891
NM_015335.5(MED13L):c.4539_4542del (p.Pro1512_Tyr1513insTer) rs2499827975
NM_015335.5(MED13L):c.4570T>C (p.Leu1524=)
NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala) rs752521430
NM_015335.5(MED13L):c.4577del (p.Pro1526fs) rs1057518262
NM_015335.5(MED13L):c.4585T>C (p.Tyr1529His)
NM_015335.5(MED13L):c.4599A>G (p.Pro1533=) rs2499827666
NM_015335.5(MED13L):c.4609C>T (p.Gln1537Ter) rs1555243400
NM_015335.5(MED13L):c.4616A>G (p.Gln1539Arg) rs766312873
NM_015335.5(MED13L):c.4618G>A (p.Ala1540Thr) rs2137275405
NM_015335.5(MED13L):c.4621A>C (p.Thr1541Pro) rs1204058870
NM_015335.5(MED13L):c.4621A>G (p.Thr1541Ala)
NM_015335.5(MED13L):c.4622del (p.Thr1541fs) rs1877476585
NM_015335.5(MED13L):c.4623G>A (p.Thr1541=) rs149358508
NM_015335.5(MED13L):c.4626A>G (p.Pro1542=)
NM_015335.5(MED13L):c.4631A>G (p.Asn1544Ser) rs2499827476
NM_015335.5(MED13L):c.4639C>A (p.Pro1547Thr) rs1877474653
NM_015335.5(MED13L):c.4639C>T (p.Pro1547Ser) rs1877474653
NM_015335.5(MED13L):c.4641C>T (p.Pro1547=) rs2499827395
NM_015335.5(MED13L):c.4643T>C (p.Leu1548Ser)
NM_015335.5(MED13L):c.4670C>G (p.Pro1557Arg) rs781121460
NM_015335.5(MED13L):c.4670dup (p.Ala1558fs) rs1565993028
NM_015335.5(MED13L):c.4694C>T (p.Thr1565Ile) rs2499827148
NM_015335.5(MED13L):c.4699A>G (p.Asn1567Asp) rs1197363993
NM_015335.5(MED13L):c.4700A>G (p.Asn1567Ser) rs2499827105
NM_015335.5(MED13L):c.4708T>A (p.Ser1570Thr)
NM_015335.5(MED13L):c.4715del (p.Asn1572fs) rs2499827000
NM_015335.5(MED13L):c.4716del (p.Pro1573fs) rs1064796113
NM_015335.5(MED13L):c.4720G>A (p.Ala1574Thr) rs995747127
NM_015335.5(MED13L):c.4720GCA[1] (p.Ala1575del) rs2499826940
NM_015335.5(MED13L):c.4722A>C (p.Ala1574=) rs770636795
NM_015335.5(MED13L):c.472A>G (p.Asn158Asp) rs2500281281
NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys) rs898633108
NM_015335.5(MED13L):c.4745C>A (p.Ser1582Tyr) rs748040838
NM_015335.5(MED13L):c.475A>T (p.Lys159Ter) rs2500281214
NM_015335.5(MED13L):c.4774T>C (p.Ser1592Pro) rs2499826735
NM_015335.5(MED13L):c.4784G>A (p.Gly1595Asp) rs2499826701
NM_015335.5(MED13L):c.4786A>G (p.Ile1596Val) rs2499826692
NM_015335.5(MED13L):c.4789A>G (p.Ser1597Gly) rs2137274550
NM_015335.5(MED13L):c.478A>G (p.Ser160Gly) rs769061925
NM_015335.5(MED13L):c.479+16G>A rs2500280986
NM_015335.5(MED13L):c.479+8T>C rs2137816605
NM_015335.5(MED13L):c.4792C>T (p.Gln1598Ter) rs2137274539
NM_015335.5(MED13L):c.47A>G (p.Asp16Gly) rs2500191290
NM_015335.5(MED13L):c.480-11C>G
NM_015335.5(MED13L):c.480-15T>C rs769094666
NM_015335.5(MED13L):c.480-1G>T rs869025288
NM_015335.5(MED13L):c.480-9C>G rs747533413
NM_015335.5(MED13L):c.480-9C>T rs747533413
NM_015335.5(MED13L):c.4805C>T (p.Thr1602Ile)
NM_015335.5(MED13L):c.4814C>G (p.Ser1605Ter) rs1877459454
NM_015335.5(MED13L):c.4817G>A (p.Gly1606Glu) rs938023282
NM_015335.5(MED13L):c.4817G>T (p.Gly1606Val)
NM_015335.5(MED13L):c.481G>A (p.Glu161Lys) rs2499953337
NM_015335.5(MED13L):c.4837G>A (p.Gly1613Arg) rs2499826477
NM_015335.5(MED13L):c.4854T>G (p.Thr1618=) rs1231927640
NM_015335.5(MED13L):c.4867G>T (p.Ala1623Ser) rs1877454199
NM_015335.5(MED13L):c.4869G>A (p.Ala1623=)
NM_015335.5(MED13L):c.4878G>A (p.Thr1626=) rs747696659
NM_015335.5(MED13L):c.4881A>G (p.Gln1627=)
NM_015335.5(MED13L):c.4886A>G (p.Asn1629Ser) rs2499826213
NM_015335.5(MED13L):c.4899dup (p.Gly1634fs) rs2499826159
NM_015335.5(MED13L):c.4905C>A (p.Asp1635Glu) rs2499826129
NM_015335.5(MED13L):c.4921A>G (p.Ser1641Gly) rs1877448884
NM_015335.5(MED13L):c.4921_4922del (p.Ser1641fs) rs1877448690
NM_015335.5(MED13L):c.494G>A (p.Cys165Tyr) rs2499953263
NM_015335.5(MED13L):c.4950A>C (p.Gln1650His) rs1243736959
NM_015335.5(MED13L):c.4953G>T (p.Glu1651Asp) rs779112405
NM_015335.5(MED13L):c.4955+16A>T rs2499825649
NM_015335.5(MED13L):c.4955+1G>A rs2499825770
NM_015335.5(MED13L):c.4955G>A (p.Ser1652Asn) rs2137273654
NM_015335.5(MED13L):c.4956-11TC[3] rs778820767
NM_015335.5(MED13L):c.4956-2A>C rs1057518705
NM_015335.5(MED13L):c.4956-3C>T rs2499823373
NM_015335.5(MED13L):c.4956-7dup
NM_015335.5(MED13L):c.4975_4976insC (p.Ile1659fs) rs1877403231
NM_015335.5(MED13L):c.5000_5001del (p.Ser1667fs)
NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn) rs2499823119
NM_015335.5(MED13L):c.5008A>C (p.Ser1670Arg)
NM_015335.5(MED13L):c.5008A>G (p.Ser1670Gly)
NM_015335.5(MED13L):c.5009G>C (p.Ser1670Thr) rs1442810819
NM_015335.5(MED13L):c.5016C>T (p.Ala1672=)
NM_015335.5(MED13L):c.501C>T (p.Phe167=) rs1383072937
NM_015335.5(MED13L):c.5024C>T (p.Pro1675Leu) rs748488755
NM_015335.5(MED13L):c.5029G>T (p.Val1677Phe) rs1877399404
NM_015335.5(MED13L):c.5033T>A (p.Val1678Asp) rs1555243099
NM_015335.5(MED13L):c.5039A>G (p.Tyr1680Cys) rs2499822871
NM_015335.5(MED13L):c.5040C>T (p.Tyr1680=) rs1592913487
NM_015335.5(MED13L):c.5051C>T (p.Pro1684Leu) rs907555134
NM_015335.5(MED13L):c.5052G>C (p.Pro1684=) rs753488932
NM_015335.5(MED13L):c.5057C>T (p.Thr1686Met) rs1877397719
NM_015335.5(MED13L):c.5073G>C (p.Glu1691Asp)
NM_015335.5(MED13L):c.5083dup (p.Ser1695fs) rs1555243086
NM_015335.5(MED13L):c.5084C>A (p.Ser1695Tyr) rs775457796
NM_015335.5(MED13L):c.5110A>G (p.Met1704Val) rs759517262
NM_015335.5(MED13L):c.5119T>C (p.Tyr1707His) rs1877392834
NM_015335.5(MED13L):c.511C>T (p.Leu171=) rs2499953204
NM_015335.5(MED13L):c.5121C>T (p.Tyr1707=)
NM_015335.5(MED13L):c.5131C>G (p.Leu1711Val)
NM_015335.5(MED13L):c.5134G>A (p.Asp1712Asn) rs1565992052
NM_015335.5(MED13L):c.5149C>T (p.His1717Tyr)
NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs) rs1555243059
NM_015335.5(MED13L):c.5160T>C (p.Asn1720=) rs2137270716
NM_015335.5(MED13L):c.5173C>T (p.Gln1725Ter) rs1135401765
NM_015335.5(MED13L):c.5175+10T>G rs540492867
NM_015335.5(MED13L):c.5175+11G>A rs1289550657
NM_015335.5(MED13L):c.5175+19A>G rs1877387659
NM_015335.5(MED13L):c.5175+1G>A rs2499822062
NM_015335.5(MED13L):c.5175+21T>A rs145094432
NM_015335.5(MED13L):c.5175G>T (p.Gln1725His) rs1555243051
NM_015335.5(MED13L):c.5176-17dup rs138808854
NM_015335.5(MED13L):c.5176-8G>A rs1877285199
NM_015335.5(MED13L):c.5181G>C (p.Val1727=) rs2137265025
NM_015335.5(MED13L):c.5192A>G (p.Tyr1731Cys) rs1427255705
NM_015335.5(MED13L):c.5194A>G (p.Met1732Val) rs145290490
NM_015335.5(MED13L):c.5206A>G (p.Met1736Val)
NM_015335.5(MED13L):c.5213A>G (p.Asp1738Gly)
NM_015335.5(MED13L):c.5215G>A (p.Glu1739Lys) rs2499816749
NM_015335.5(MED13L):c.5219A>T (p.Gln1740Leu) rs754490654
NM_015335.5(MED13L):c.5233C>G (p.Gln1745Glu) rs2499816666
NM_015335.5(MED13L):c.5234A>G (p.Gln1745Arg) rs1877281530
NM_015335.5(MED13L):c.5244_5248dup (p.Met1750fs) rs2137264830
NM_015335.5(MED13L):c.5246C>G (p.Ser1749Cys)
NM_015335.5(MED13L):c.5248A>C (p.Met1750Leu) rs2499816606
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs) rs1877279397
NM_015335.5(MED13L):c.5273G>C (p.Cys1758Ser)
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter) rs886041448
NM_015335.5(MED13L):c.5281C>G (p.Pro1761Ala)
NM_015335.5(MED13L):c.5282C>A (p.Pro1761Gln) rs1877277272
NM_015335.5(MED13L):c.5283A>G (p.Pro1761=) rs2137264574
NM_015335.5(MED13L):c.5285del (p.Leu1762fs) rs886043314
NM_015335.5(MED13L):c.5288C>A (p.Pro1763His) rs747112698
NM_015335.5(MED13L):c.5299C>T (p.His1767Tyr) rs2137264450
NM_015335.5(MED13L):c.5313C>T (p.Leu1771=) rs1017360857
NM_015335.5(MED13L):c.5315C>T (p.Thr1772Met) rs2137264380
NM_015335.5(MED13L):c.5316G>A (p.Thr1772=) rs746426523
NM_015335.5(MED13L):c.5321T>A (p.Phe1774Tyr) rs1592911270
NM_015335.5(MED13L):c.5327C>T (p.Pro1776Leu) rs1592911259
NM_015335.5(MED13L):c.5344A>G (p.Met1782Val) rs2499816030
NM_015335.5(MED13L):c.5346G>A (p.Met1782Ile) rs2499816025
NM_015335.5(MED13L):c.5350C>T (p.Leu1784Phe) rs948548287
NM_015335.5(MED13L):c.5360C>T (p.Pro1787Leu) rs2499815983
NM_015335.5(MED13L):c.5364+1G>T rs2499815967
NM_015335.5(MED13L):c.5364+1dup rs1877270718
NM_015335.5(MED13L):c.5365-15T>G rs1404193983
NM_015335.5(MED13L):c.5365-18T>C rs2499799519
NM_015335.5(MED13L):c.5365-1G>A rs1876893450
NM_015335.5(MED13L):c.5365-20G>T rs2499799540
NM_015335.5(MED13L):c.5365-22T>A rs374679380
NM_015335.5(MED13L):c.5365-22T>C rs374679380
NM_015335.5(MED13L):c.5383C>G (p.Leu1795Val) rs750257495
NM_015335.5(MED13L):c.5393C>T (p.Pro1798Leu) rs1225690527
NM_015335.5(MED13L):c.539G>C (p.Ser180Thr) rs1216800188
NM_015335.5(MED13L):c.53A>T (p.His18Leu) rs2500191265
NM_015335.5(MED13L):c.541_556delinsA (p.Val181_His186delinsAsn) rs2137446876
NM_015335.5(MED13L):c.5444del (p.Thr1815fs) rs879255407
NM_015335.5(MED13L):c.5459_5460delinsTA (p.Ser1820Ile) rs2137243699
NM_015335.5(MED13L):c.5461C>T (p.Gln1821Ter)
NM_015335.5(MED13L):c.5471del (p.Asn1824fs) rs2499798910
NM_015335.5(MED13L):c.5482G>A (p.Val1828Met)
NM_015335.5(MED13L):c.5482G>T (p.Val1828Leu) rs202075689
NM_015335.5(MED13L):c.5489A>G (p.Tyr1830Cys) rs2499798795
NM_015335.5(MED13L):c.5490T>C (p.Tyr1830=) rs2499798789
NM_015335.5(MED13L):c.5493T>C (p.Cys1831=) rs2499798782
NM_015335.5(MED13L):c.5502C>G (p.His1834Gln) rs200440551
NM_015335.5(MED13L):c.5502del (p.His1834fs) rs1565987758
NM_015335.5(MED13L):c.5512T>C (p.Trp1838Arg)
NM_015335.5(MED13L):c.5530A>G (p.Thr1844Ala)
NM_015335.5(MED13L):c.5531C>G (p.Thr1844Ser) rs777694778
NM_015335.5(MED13L):c.553C>T (p.Gln185Ter) rs2137446910
NM_015335.5(MED13L):c.5545G>T (p.Glu1849Ter)
NM_015335.5(MED13L):c.5551T>C (p.Leu1851=)
NM_015335.5(MED13L):c.5554G>C (p.Glu1852Gln)
NM_015335.5(MED13L):c.5559C>G (p.Thr1853=)
NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter) rs139063441
NM_015335.5(MED13L):c.5581C>G (p.Pro1861Ala)
NM_015335.5(MED13L):c.5583A>G (p.Pro1861=)
NM_015335.5(MED13L):c.5586C>G (p.Asn1862Lys)
NM_015335.5(MED13L):c.5586del (p.Asn1862fs) rs2499798316
NM_015335.5(MED13L):c.5588+1G>A rs1135401810
NM_015335.5(MED13L):c.5589-15T>G rs764431242
NM_015335.5(MED13L):c.5589-17A>G rs777020453
NM_015335.5(MED13L):c.5589-18C>T
NM_015335.5(MED13L):c.5589-1G>A rs1064796543
NM_015335.5(MED13L):c.5589-29TTCCCC[3] rs950387382
NM_015335.5(MED13L):c.5589-9A>C
NM_015335.5(MED13L):c.5589-9A>G rs1565987503
NM_015335.5(MED13L):c.5603A>G (p.Lys1868Arg) rs565360797
NM_015335.5(MED13L):c.5607A>T (p.Val1869=) rs2499797356
NM_015335.5(MED13L):c.5610T>C (p.Ser1870=)
NM_015335.5(MED13L):c.5614C>T (p.Arg1872Cys) rs1876857794
NM_015335.5(MED13L):c.5615G>C (p.Arg1872Pro) rs28940310
NM_015335.5(MED13L):c.5625_5630del (p.Leu1876_Gln1877del) rs1876856419
NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs) rs1876855942
NM_015335.5(MED13L):c.5631G>T (p.Gln1877His) rs1555241858
NM_015335.5(MED13L):c.5650A>C (p.Ile1884Leu) rs748101708
NM_015335.5(MED13L):c.5651T>C (p.Ile1884Thr) rs2499797173
NM_015335.5(MED13L):c.5658T>A (p.Ile1886=) rs1592904456
NM_015335.5(MED13L):c.5659G>A (p.Val1887Ile) rs201002721
NM_015335.5(MED13L):c.5665A>G (p.Met1889Val) rs2499797107
NM_015335.5(MED13L):c.5687T>A (p.Val1896Asp) rs2499797061
NM_015335.5(MED13L):c.5692A>T (p.Ile1898Phe)
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.5707C>A (p.Arg1903Ser)
NM_015335.5(MED13L):c.5707C>T (p.Arg1903Cys)
NM_015335.5(MED13L):c.5708G>A (p.Arg1903His) rs1039753021
NM_015335.5(MED13L):c.5710C>G (p.Leu1904Val) rs2499796913
NM_015335.5(MED13L):c.5716C>T (p.His1906Tyr) rs1876852244
NM_015335.5(MED13L):c.5719G>T (p.Gly1907Trp) rs2499796895
NM_015335.5(MED13L):c.5722G>C (p.Glu1908Gln) rs2499796876
NM_015335.5(MED13L):c.5732-15G>A
NM_015335.5(MED13L):c.5732-18T>C
NM_015335.5(MED13L):c.5737A>T (p.Ser1913Cys) rs919712205
NM_015335.5(MED13L):c.5751_5752insTACTACA (p.Glu1918fs)
NM_015335.5(MED13L):c.5755T>G (p.Cys1919Gly)
NM_015335.5(MED13L):c.5766_5769del (p.Thr1923fs) rs2499974537
NM_015335.5(MED13L):c.5773A>G (p.Ser1925Gly) rs752560133
NM_015335.5(MED13L):c.5785A>G (p.Lys1929Glu) rs1064795586
NM_015335.5(MED13L):c.5793G>T (p.Val1931=)
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs) rs1876629983
NM_015335.5(MED13L):c.5798G>T (p.Arg1933Leu) rs778173015
NM_015335.5(MED13L):c.57del (p.Asn20fs)
NM_015335.5(MED13L):c.5802G>A (p.Met1934Ile) rs554093251
NM_015335.5(MED13L):c.5814T>C (p.Ser1938=)
NM_015335.5(MED13L):c.5818G>A (p.Ala1940Thr)
NM_015335.5(MED13L):c.5818del (p.Ala1940fs) rs2499974370
NM_015335.5(MED13L):c.5827C>A (p.Pro1943Thr) rs1555241424
NM_015335.5(MED13L):c.5827C>G (p.Pro1943Ala) rs1555241424
NM_015335.5(MED13L):c.5836C>G (p.Leu1946Val)
NM_015335.5(MED13L):c.585_586delinsTT (p.Glu195_His196delinsAspTyr) rs2499952819
NM_015335.5(MED13L):c.5866C>T (p.Gln1956Ter) rs1565985681
NM_015335.5(MED13L):c.5870G>T (p.Gly1957Val)
NM_015335.5(MED13L):c.5891-16A>C rs188574299
NM_015335.5(MED13L):c.5904G>A (p.Met1968Ile) rs2137223825
NM_015335.5(MED13L):c.5920C>T (p.Arg1974Ter) rs2499969945
NM_015335.5(MED13L):c.5921G>A (p.Arg1974Gln) rs1876524831
NM_015335.5(MED13L):c.5928_5929inv (p.Ala1977Thr)
NM_015335.5(MED13L):c.5929G>A (p.Ala1977Thr) rs1233644604
NM_015335.5(MED13L):c.5939T>A (p.Met1980Lys) rs1876523724
NM_015335.5(MED13L):c.593A>C (p.His198Pro) rs764593997
NM_015335.5(MED13L):c.5941C>T (p.Gln1981Ter) rs2137223723
NM_015335.5(MED13L):c.5943G>C (p.Gln1981His) rs1245093318
NM_015335.5(MED13L):c.5949_5950del (p.Gln1984fs) rs869025289
NM_015335.5(MED13L):c.5950C>T (p.Gln1984Ter) rs1876522232
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.5965C>T (p.Gln1989Ter) rs1555241166
NM_015335.5(MED13L):c.5972C>T (p.Ala1991Val) rs2499969730
NM_015335.5(MED13L):c.5973T>G (p.Ala1991=) rs2499969727
NM_015335.5(MED13L):c.5978G>A (p.Cys1993Tyr) rs2137223521
NM_015335.5(MED13L):c.5985C>T (p.His1995=) rs1366083664
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) rs1876520009
NM_015335.5(MED13L):c.6008C>T (p.Ser2003Leu) rs2499969657
NM_015335.5(MED13L):c.6010A>G (p.Thr2004Ala) rs2499969652
NM_015335.5(MED13L):c.6017_6035del (p.Gln2006fs) rs2499969575
NM_015335.5(MED13L):c.601C>G (p.Gln201Glu) rs1029377279
NM_015335.5(MED13L):c.601C>T (p.Gln201Ter) rs1029377279
NM_015335.5(MED13L):c.6022G>T (p.Ala2008Ser)
NM_015335.5(MED13L):c.6030C>T (p.Ala2010=)
NM_015335.5(MED13L):c.6037C>G (p.Pro2013Ala) rs1387712841
NM_015335.5(MED13L):c.6039del (p.Asn2014fs) rs2499969554
NM_015335.5(MED13L):c.603G>T (p.Gln201His) rs1880117720
NM_015335.5(MED13L):c.6041A>G (p.Asn2014Ser)
NM_015335.5(MED13L):c.6057C>T (p.Ser2019=) rs2499969515
NM_015335.5(MED13L):c.6060C>T (p.Pro2020=) rs370627474
NM_015335.5(MED13L):c.6067+1G>A
NM_015335.5(MED13L):c.6067+5G>A rs2499969479
NM_015335.5(MED13L):c.6067+7A>T rs759519110
NM_015335.5(MED13L):c.6068-17T>C rs370925505
NM_015335.5(MED13L):c.6068-17del rs35517594
NM_015335.5(MED13L):c.6073dup (p.Met2025fs) rs1131691386
NM_015335.5(MED13L):c.6076_6105dup
NM_015335.5(MED13L):c.6079G>T (p.Val2027Phe) rs1876393490
NM_015335.5(MED13L):c.607dup (p.Ser203fs) rs869025291
NM_015335.5(MED13L):c.60C>T (p.Asn20=) rs746193221
NM_015335.5(MED13L):c.6104T>C (p.Met2035Thr)
NM_015335.5(MED13L):c.610C>G (p.Pro204Ala) rs1472219916
NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs) rs869025287
NM_015335.5(MED13L):c.6139C>G (p.Leu2047Val) rs1002419793
NM_015335.5(MED13L):c.6151C>T (p.Pro2051Ser) rs2137216697
NM_015335.5(MED13L):c.6155A>C (p.Asn2052Thr) rs766487372
NM_015335.5(MED13L):c.6164del (p.Pro2055fs) rs2499964381
NM_015335.5(MED13L):c.6179G>C (p.Gly2060Ala)
NM_015335.5(MED13L):c.6189T>A (p.Ser2063=) rs2499964299
NM_015335.5(MED13L):c.6195dup (p.Gly2066fs) rs2137216530
NM_015335.5(MED13L):c.6200T>C (p.Val2067Ala)
NM_015335.5(MED13L):c.6226-1G>C rs1876150289
NM_015335.5(MED13L):c.6228C>A (p.Ser2076Arg) rs2137203328
NM_015335.5(MED13L):c.6234_6235del (p.Glu2079fs) rs2499956505
NM_015335.5(MED13L):c.6239G>A (p.Arg2080His)
NM_015335.5(MED13L):c.6239dup (p.Leu2081fs) rs2499956501
NM_015335.5(MED13L):c.6242T>A (p.Leu2081His)
NM_015335.5(MED13L):c.6245T>A (p.Leu2082His) rs2137203239
NM_015335.5(MED13L):c.625+8T>G rs2499952506
NM_015335.5(MED13L):c.626-13C>T rs2499946364
NM_015335.5(MED13L):c.626-1_626dup rs2499946313
NM_015335.5(MED13L):c.626-27A>C rs11611238
NM_015335.5(MED13L):c.626-2A>G rs1555249664
NM_015335.5(MED13L):c.626-6C>T
NM_015335.5(MED13L):c.6260del (p.Pro2087fs) rs1565982697
NM_015335.5(MED13L):c.6263A>C (p.Glu2088Ala)
NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu) rs1876147349
NM_015335.5(MED13L):c.6277C>T (p.Gln2093Ter) rs2499956371
NM_015335.5(MED13L):c.627dup (p.Leu210fs) rs1879959408
NM_015335.5(MED13L):c.6280C>A (p.Pro2094Thr) rs1555240376
NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser) rs1555240376
NM_015335.5(MED13L):c.6284dup (p.Ala2096fs) rs886041624
NM_015335.5(MED13L):c.6293G>C (p.Gly2098Ala)
NM_015335.5(MED13L):c.6301G>A (p.Val2101Ile) rs747734369
NM_015335.5(MED13L):c.6303A>G (p.Val2101=) rs1379838467
NM_015335.5(MED13L):c.6310G>T (p.Ala2104Ser) rs1019178380
NM_015335.5(MED13L):c.6311C>T (p.Ala2104Val) rs1177608611
NM_015335.5(MED13L):c.6314A>G (p.Lys2105Arg)
NM_015335.5(MED13L):c.6322A>G (p.Asn2108Asp)
NM_015335.5(MED13L):c.6329C>T (p.Pro2110Leu) rs2499956209
NM_015335.5(MED13L):c.6331C>T (p.Gln2111Ter) rs1555240361
NM_015335.5(MED13L):c.6331del (p.Gln2111fs) rs2499956196
NM_015335.5(MED13L):c.6335G>A (p.Trp2112Ter) rs2499956168
NM_015335.5(MED13L):c.6336G>A (p.Trp2112Ter) rs1555240359
NM_015335.5(MED13L):c.6350G>T (p.Cys2117Phe)
NM_015335.5(MED13L):c.6356A>G (p.Gln2119Arg) rs1565982593
NM_015335.5(MED13L):c.6367C>T (p.Gln2123Ter) rs1876139497
NM_015335.5(MED13L):c.6368A>G (p.Gln2123Arg) rs1876139296
NM_015335.5(MED13L):c.6372C>A (p.Cys2124Ter)
NM_015335.5(MED13L):c.6380T>A (p.Phe2127Tyr)
NM_015335.5(MED13L):c.6387+11_6387+12insCTTAAAGGTTG rs2499955974
NM_015335.5(MED13L):c.6387+4G>C rs2499956001
NM_015335.5(MED13L):c.6387+8del rs2499955981
NM_015335.5(MED13L):c.6388-13G>A rs1312649517
NM_015335.5(MED13L):c.6388-17C>T
NM_015335.5(MED13L):c.6388-20T>C
NM_015335.5(MED13L):c.6388-21CT[2] rs778053175
NM_015335.5(MED13L):c.6388-2A>G rs1592891007
NM_015335.5(MED13L):c.6388-7dup rs753004245
NM_015335.5(MED13L):c.6392C>G (p.Ser2131Trp)
NM_015335.5(MED13L):c.6393_6415delinsAC (p.Leu2132_Ala2139delinsPro) rs2499947780
NM_015335.5(MED13L):c.6418C>T (p.Gln2140Ter) rs1555239936
NM_015335.5(MED13L):c.6426dup (p.Glu2143fs) rs2499947744
NM_015335.5(MED13L):c.6427G>T (p.Glu2143Ter)
NM_015335.5(MED13L):c.6428A>G (p.Glu2143Gly)
NM_015335.5(MED13L):c.6435G>T (p.Leu2145=) rs1185471273
NM_015335.5(MED13L):c.6444G>C (p.Arg2148Ser)
NM_015335.5(MED13L):c.6446A>G (p.Asn2149Ser)
NM_015335.5(MED13L):c.6461dup (p.His2155fs) rs1592890905
NM_015335.5(MED13L):c.6462A>T (p.Pro2154=)
NM_015335.5(MED13L):c.6465C>T (p.His2155=)
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu) rs1565981137
NM_015335.5(MED13L):c.6500+18C>T rs2499947398
NM_015335.5(MED13L):c.6501-2del rs2499941147
NM_015335.5(MED13L):c.6501-9C>G rs2137182384
NM_015335.5(MED13L):c.6509T>G (p.Leu2170Trp) rs2499941131
NM_015335.5(MED13L):c.6527T>C (p.Leu2176Pro)
NM_015335.5(MED13L):c.652G>A (p.Gly218Arg) rs546865056
NM_015335.5(MED13L):c.6539C>T (p.Thr2180Met) rs1875744082
NM_015335.5(MED13L):c.6540G>A (p.Thr2180=) rs371240974
NM_015335.5(MED13L):c.6554C>A (p.Thr2185Asn) rs1875742513
NM_015335.5(MED13L):c.6556C>T (p.Gln2186Ter) rs1555239555
NM_015335.5(MED13L):c.6562C>T (p.Arg2188Cys) rs2499940940
NM_015335.5(MED13L):c.6563G>A (p.Arg2188His)
NM_015335.5(MED13L):c.6569C>G (p.Ser2190Cys) rs1161076932
NM_015335.5(MED13L):c.6570dup (p.Cys2191fs) rs1592888491
NM_015335.5(MED13L):c.6577C>A (p.Pro2193Thr) rs2137182119
NM_015335.5(MED13L):c.6577C>G (p.Pro2193Ala)
NM_015335.5(MED13L):c.6582C>T (p.Val2194=) rs956746436
NM_015335.5(MED13L):c.6583C>T (p.His2195Tyr) rs2137182061
NM_015335.5(MED13L):c.6584A>G (p.His2195Arg)
NM_015335.5(MED13L):c.658C>T (p.Leu220=)
NM_015335.5(MED13L):c.6592G>C (p.Val2198Leu) rs1479014847
NM_015335.5(MED13L):c.661A>C (p.Thr221Pro)
NM_015335.5(MED13L):c.6626T>C (p.Ile2209Thr) rs2499940690
NM_015335.5(MED13L):c.663A>G (p.Thr221=)
NM_015335.5(MED13L):c.672A>G (p.Ala224=) rs756122556
NM_015335.5(MED13L):c.680T>A (p.Met227Lys)
NM_015335.5(MED13L):c.681G>T (p.Met227Ile) rs768094617
NM_015335.5(MED13L):c.681_682delinsTG (p.Met227_Ser228delinsIleAla) rs2499946063
NM_015335.5(MED13L):c.682T>G (p.Ser228Ala) rs1879954912
NM_015335.5(MED13L):c.690A>G (p.Pro230=) rs1592953981
NM_015335.5(MED13L):c.698G>T (p.Arg233Leu) rs757472716
NM_015335.5(MED13L):c.699T>C (p.Arg233=)
NM_015335.5(MED13L):c.70C>T (p.Leu24=) rs1278724763
NM_015335.5(MED13L):c.712G>T (p.Glu238Ter) rs1879953298
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.722A>G (p.Tyr241Cys) rs564830776
NM_015335.5(MED13L):c.727T>C (p.Tyr243His) rs2499945923
NM_015335.5(MED13L):c.73-10_73-9dup rs765651929
NM_015335.5(MED13L):c.73-1G>A rs1555225472
NM_015335.5(MED13L):c.73-5del rs1593196291
NM_015335.5(MED13L):c.732G>C (p.Pro244=) rs1359784128
NM_015335.5(MED13L):c.735G>T (p.Met245Ile) rs2499945894
NM_015335.5(MED13L):c.745A>T (p.Lys249Ter) rs1879951118
NM_015335.5(MED13L):c.746dup (p.Lys250fs) rs1566014158
NM_015335.5(MED13L):c.747G>T (p.Lys249Asn) rs921393421
NM_015335.5(MED13L):c.747_748del (p.Lys250fs) rs1592953902
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015335.5(MED13L):c.758del (p.Glu252_Ser253insTer)
NM_015335.5(MED13L):c.760_1175+967del
NM_015335.5(MED13L):c.769G>A (p.Asp257Asn) rs2499945750
NM_015335.5(MED13L):c.785A>G (p.Asp262Gly) rs1417904088
NM_015335.5(MED13L):c.787G>A (p.Asp263Asn) rs1248970090
NM_015335.5(MED13L):c.799G>A (p.Val267Met) rs1279967440
NM_015335.5(MED13L):c.7G>A (p.Ala3Thr) rs2500191685
NM_015335.5(MED13L):c.806T>C (p.Val269Ala)
NM_015335.5(MED13L):c.820+4A>G
NM_015335.5(MED13L):c.821-6T>C
NM_015335.5(MED13L):c.829C>G (p.Arg277Gly) rs1879920345
NM_015335.5(MED13L):c.82dup (p.Thr28fs) rs1870221353
NM_015335.5(MED13L):c.839A>G (p.Tyr280Cys) rs2499944016
NM_015335.5(MED13L):c.839A>T (p.Tyr280Phe)
NM_015335.5(MED13L):c.850T>A (p.Phe284Ile) rs747135110
NM_015335.5(MED13L):c.864_865del (p.Gln289fs)
NM_015335.5(MED13L):c.867G>C (p.Gln289His) rs145709378
NM_015335.5(MED13L):c.878del (p.Pro293fs) rs1555249561
NM_015335.5(MED13L):c.881_882insAATCCCGGT (p.Val294_Pro295insIleProVal) rs2499943835
NM_015335.5(MED13L):c.889_890del (p.Ser297fs) rs2499943809
NM_015335.5(MED13L):c.88A>G (p.Ile30Val) rs2138459773
NM_015335.5(MED13L):c.896C>G (p.Ala299Gly) rs1879916394
NM_015335.5(MED13L):c.898A>G (p.Ser300Gly)
NM_015335.5(MED13L):c.911A>G (p.His304Arg)
NM_015335.5(MED13L):c.92A>G (p.Lys31Arg) rs372265285
NM_015335.5(MED13L):c.940A>G (p.Ser314Gly)
NM_015335.5(MED13L):c.941G>T (p.Ser314Ile) rs970819884
NM_015335.5(MED13L):c.942T>C (p.Ser314=) rs762959649
NM_015335.5(MED13L):c.970C>T (p.Pro324Ser) rs1183900324
NM_015335.5(MED13L):c.971C>T (p.Pro324Leu) rs2499943458
NM_015335.5(MED13L):c.979C>T (p.Pro327Ser) rs2499943410
NM_015335.5(MED13L):c.986C>T (p.Thr329Ile) rs769022047
NM_015335.5(MED13L):c.987C>G (p.Thr329=) rs1879911823
NM_015335.5(MED13L):c.987del (p.Ser330fs) rs2499943377
NM_015335.5(MED13L):c.993A>G (p.Pro331=) rs780190117
NM_015335.5(MED13L):c.995A>G (p.Glu332Gly) rs1440142042
t(12;19)(q24.21;q12)

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