ClinVar Miner

List of variants studied for Transposition of the great arteries, dextro-looped

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 839
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.5928T>C (p.Thr1976=) rs2304460 0.15213
NM_015335.5(MED13L):c.3070T>C (p.Leu1024=) rs1865787 0.15121
NM_015335.5(MED13L):c.2013-7C>T rs199749418 0.12825
NM_015335.5(MED13L):c.6354C>T (p.Pro2118=) rs3088260 0.06405
NM_015335.5(MED13L):c.579T>C (p.Asn193=) rs11067880 0.03209
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.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.1590C>T (p.Ala530=) rs114269768 0.00591
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.1095G>A (p.Ser365=) rs144327790 0.00284
NM_015335.5(MED13L):c.1725G>A (p.Ser575=) rs77263223 0.00273
NM_015335.5(MED13L):c.1283A>G (p.His428Arg) rs144410580 0.00222
NM_015335.5(MED13L):c.1215T>G (p.Pro405=) rs147976467 0.00182
NM_015335.5(MED13L):c.4593C>T (p.Thr1531=) rs138774472 0.00172
NM_015335.5(MED13L):c.1904G>A (p.Ser635Asn) rs144457722 0.00141
NM_015335.5(MED13L):c.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.1010-14G>A rs368042803 0.00083
NM_015335.5(MED13L):c.1008A>C (p.Leu336=) rs150782464 0.00074
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.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.2239-7T>C rs144147395 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.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.3517G>A (p.Gly1173Ser) rs201987892 0.00015
NM_015335.5(MED13L):c.3063C>T (p.Pro1021=) rs142191700 0.00013
NM_015335.5(MED13L):c.3498G>T (p.Ala1166=) rs200960898 0.00013
NM_015335.5(MED13L):c.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.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.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.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.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.1503A>G (p.Gln501=) rs538329234 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.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.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.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.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.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.1136G>A (p.Arg379Gln) rs758022508 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.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.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.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.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.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.6486G>A (p.Thr2162=) rs763493523 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.1064G>A (p.Gly355Glu) rs779614784 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.1175+5G>A rs567368642 0.00001
NM_015335.5(MED13L):c.1176-9C>A rs1199219649 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.1649C>G (p.Ser550Cys) rs1236040665 0.00001
NM_015335.5(MED13L):c.1654A>G (p.Ile552Val) rs371805787 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.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.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.2282A>G (p.His761Arg) rs745882136 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.2621A>C (p.His874Pro) rs747695084 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.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.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.3207A>G (p.Gln1069=) rs761547177 0.00001
NM_015335.5(MED13L):c.3265A>G (p.Thr1089Ala) rs2499857487 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.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.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.4113C>T (p.Tyr1371=) rs767543191 0.00001
NM_015335.5(MED13L):c.4114+17G>A rs1401636623 0.00001
NM_015335.5(MED13L):c.4115-18A>G rs894572752 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.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.4471G>A (p.Glu1491Lys) rs757111256 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.4622C>T (p.Thr1541Met) rs773553862 0.00001
NM_015335.5(MED13L):c.4625C>A (p.Pro1542Gln) rs746833121 0.00001
NM_015335.5(MED13L):c.473A>G (p.Asn158Ser) rs781607336 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.4875A>G (p.Arg1625=) rs1311202612 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.5235A>G (p.Gln1745=) rs766326918 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.5466A>G (p.Lys1822=) rs139348045 0.00001
NM_015335.5(MED13L):c.546G>A (p.Glu182=) rs781132536 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.59A>G (p.Asn20Ser) rs1034459470 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.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.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.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
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.115970663_115970665delinsTAC rs1555241160
NC_000012.12:g.115991433_115991435delinsA rs1565997261
NM_001200.4(BMP2):c.962A>T (p.His321Leu) rs2514427047
NM_004302.5(ACVR1B):c.912G>A (p.Met304Ile) rs2120691810
NM_015335.5(MED13L):c.1003A>G (p.Ile335Val) rs2499943294
NM_015335.5(MED13L):c.1004T>A (p.Ile335Asn)
NM_015335.5(MED13L):c.1009+20G>A
NM_015335.5(MED13L):c.1010-17A>G
NM_015335.5(MED13L):c.1010-4dup rs771044608
NM_015335.5(MED13L):c.1036G>C (p.Ala346Pro) rs1286999510
NM_015335.5(MED13L):c.1056A>G (p.Gln352=)
NM_015335.5(MED13L):c.1086A>G (p.Pro362=) rs2137415289
NM_015335.5(MED13L):c.1095G>T (p.Ser365=)
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.1160A>G (p.Asn387Ser)
NM_015335.5(MED13L):c.1164A>G (p.Arg388=) rs1566011405
NM_015335.5(MED13L):c.1167C>G (p.Thr389=)
NM_015335.5(MED13L):c.1176-1G>A rs1566010195
NM_015335.5(MED13L):c.1176-3T>C rs745505181
NM_015335.5(MED13L):c.1192A>C (p.Thr398Pro) rs777722490
NM_015335.5(MED13L):c.119A>G (p.His40Arg) rs2500017215
NM_015335.5(MED13L):c.1225C>G (p.Pro409Ala)
NM_015335.5(MED13L):c.1248T>G (p.Asp416Glu)
NM_015335.5(MED13L):c.124G>T (p.Asp42Tyr) rs1247142719
NM_015335.5(MED13L):c.1260A>C (p.Arg420Ser) rs768900677
NM_015335.5(MED13L):c.1271C>A (p.Ser424Tyr) rs1272102782
NM_015335.5(MED13L):c.1275T>C (p.Cys425=)
NM_015335.5(MED13L):c.1280+11A>G rs1879495014
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.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.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.1390TCT[1] (p.Ser465del) rs1566007803
NM_015335.5(MED13L):c.1396A>C (p.Lys466Gln) rs1566007801
NM_015335.5(MED13L):c.1405dup (p.Thr469fs) rs2137386388
NM_015335.5(MED13L):c.1406C>T (p.Thr469Ile) rs1879225668
NM_015335.5(MED13L):c.1423A>G (p.Lys475Glu) rs1879225158
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.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.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.1646A>G (p.His549Arg)
NM_015335.5(MED13L):c.1654A>C (p.Ile552Leu)
NM_015335.5(MED13L):c.1658C>A (p.Ser553Tyr) rs2499912508
NM_015335.5(MED13L):c.1663C>T (p.Leu555=)
NM_015335.5(MED13L):c.1689A>T (p.Pro563=) rs758760275
NM_015335.5(MED13L):c.1691G>A (p.Arg564Gln)
NM_015335.5(MED13L):c.1758A>T (p.Gly586=) rs2499912069
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.1814G>A (p.Arg605Lys) rs2137384488
NM_015335.5(MED13L):c.1828G>T (p.Ala610Ser) rs762794873
NM_015335.5(MED13L):c.1847C>G (p.Ala616Gly)
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.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.1965A>G (p.Arg655=)
NM_015335.5(MED13L):c.1973C>T (p.Ala658Val) rs1370758314
NM_015335.5(MED13L):c.1999A>G (p.Thr667Ala) rs1465270113
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.2016C>T (p.Leu672=)
NM_015335.5(MED13L):c.2027C>T (p.Pro676Leu)
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.2071C>T (p.Gln691Ter) rs2137378964
NM_015335.5(MED13L):c.2081A>G (p.His694Arg) rs2499906418
NM_015335.5(MED13L):c.2110C>T (p.Gln704Ter) rs2499906294
NM_015335.5(MED13L):c.2175C>T (p.Tyr725=) rs1228712940
NM_015335.5(MED13L):c.2183C>T (p.Thr728Ile) rs2499906060
NM_015335.5(MED13L):c.2226G>C (p.Leu742=) rs2499905855
NM_015335.5(MED13L):c.2238+13dup rs1353670419
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.2268C>G (p.Val756=) rs1879047578
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.2344+13A>G rs2499901273
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.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.2472T>G (p.Ala824=)
NM_015335.5(MED13L):c.2483C>T (p.Ala828Val) rs1878844223
NM_015335.5(MED13L):c.2502G>A (p.Met834Ile)
NM_015335.5(MED13L):c.2523C>T (p.Asp841=) rs2499891439
NM_015335.5(MED13L):c.2530C>T (p.Leu844Phe) rs1361705924
NM_015335.5(MED13L):c.2536A>G (p.Lys846Glu)
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.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.2570-8A>T rs776593973
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_015335.5(MED13L):c.2585A>C (p.Gln862Pro) rs2499875443
NM_015335.5(MED13L):c.2604A>G (p.Pro868=) rs772409015
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.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.2779_2782dup (p.Glu928fs)
NM_015335.5(MED13L):c.2790+18A>G rs2499874606
NM_015335.5(MED13L):c.2809A>C (p.Lys937Gln) rs758431231
NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu) rs764385703
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.2911C>T (p.Leu971=) rs2137328447
NM_015335.5(MED13L):c.2925A>T (p.Ser975=) rs371364463
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.2956C>T (p.Pro986Ser)
NM_015335.5(MED13L):c.2996+7A>G rs775346686
NM_015335.5(MED13L):c.2996A>G (p.Asn999Ser) rs1420950414
NM_015335.5(MED13L):c.2997-17G>A
NM_015335.5(MED13L):c.3018C>T (p.Ser1006=) rs369196762
NM_015335.5(MED13L):c.3046C>T (p.Pro1016Ser)
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.311-20T>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.3187G>A (p.Gly1063Arg)
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.3247G>C (p.Ala1083Pro)
NM_015335.5(MED13L):c.3255C>T (p.Thr1085=) rs2499857531
NM_015335.5(MED13L):c.3270G>T (p.Arg1090=)
NM_015335.5(MED13L):c.327C>T (p.Leu109=) rs1874076984
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.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.3347C>A (p.Ser1116Tyr) rs1878063256
NM_015335.5(MED13L):c.3369T>C (p.Phe1123=) rs1878061921
NM_015335.5(MED13L):c.3381del (p.Phe1128fs) rs2499856919
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.3476G>A (p.Arg1159His) rs2499856607
NM_015335.5(MED13L):c.3479G>A (p.Cys1160Tyr) rs1565997289
NM_015335.5(MED13L):c.3498G>A (p.Ala1166=) rs200960898
NM_015335.5(MED13L):c.3522C>T (p.Tyr1174=) rs1878054259
NM_015335.5(MED13L):c.3538C>G (p.Leu1180Val)
NM_015335.5(MED13L):c.3595A>G (p.Arg1199Gly) rs1878049943
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.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.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.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.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.379del (p.His127fs)
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.3916T>C (p.Ser1306Pro)
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.3934+10C>T
NM_015335.5(MED13L):c.3935-1G>A rs1565995146
NM_015335.5(MED13L):c.3935-9C>A rs753138376
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.4002C>G (p.Leu1334=) rs772069193
NM_015335.5(MED13L):c.4004A>G (p.Gln1335Arg) rs2499842671
NM_015335.5(MED13L):c.401T>C (p.Leu134Pro) rs1565875400
NM_015335.5(MED13L):c.4025G>A (p.Arg1342His) rs1157874688
NM_015335.5(MED13L):c.4065A>G (p.Gly1355=) rs2499842472
NM_015335.5(MED13L):c.4068A>T (p.Pro1356=)
NM_015335.5(MED13L):c.4077G>A (p.Trp1359Ter) rs1565995034
NM_015335.5(MED13L):c.409A>G (p.Lys137Glu)
NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala) rs1877746863
NM_015335.5(MED13L):c.4114+8C>A rs370491568
NM_015335.5(MED13L):c.4144A>G (p.Ile1382Val) rs142230139
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.4217G>A (p.Arg1406Lys) rs1231977383
NM_015335.5(MED13L):c.4223T>G (p.Leu1408Trp)
NM_015335.5(MED13L):c.4233A>G (p.Pro1411=)
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.4330G>A (p.Val1444Ile) rs1191265317
NM_015335.5(MED13L):c.4339-20G>T rs772341564
NM_015335.5(MED13L):c.437T>A (p.Phe146Tyr) rs2500281679
NM_015335.5(MED13L):c.4396C>G (p.Arg1466Gly)
NM_015335.5(MED13L):c.4405A>G (p.Lys1469Glu) rs1249794982
NM_015335.5(MED13L):c.443G>C (p.Arg148Pro)
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.4532-20C>G rs1877486276
NM_015335.5(MED13L):c.4570T>C (p.Leu1524=)
NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala) rs752521430
NM_015335.5(MED13L):c.4599A>G (p.Pro1533=) rs2499827666
NM_015335.5(MED13L):c.4616A>G (p.Gln1539Arg) rs766312873
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.4699A>G (p.Asn1567Asp) rs1197363993
NM_015335.5(MED13L):c.4708T>A (p.Ser1570Thr)
NM_015335.5(MED13L):c.4715del (p.Asn1572fs) rs2499827000
NM_015335.5(MED13L):c.4720G>A (p.Ala1574Thr) rs995747127
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.475A>T (p.Lys159Ter) rs2500281214
NM_015335.5(MED13L):c.4774T>C (p.Ser1592Pro) rs2499826735
NM_015335.5(MED13L):c.4786A>G (p.Ile1596Val) rs2499826692
NM_015335.5(MED13L):c.479+16G>A rs2500280986
NM_015335.5(MED13L):c.479+8T>C rs2137816605
NM_015335.5(MED13L):c.480-11C>G
NM_015335.5(MED13L):c.480-15T>C rs769094666
NM_015335.5(MED13L):c.480-9C>G rs747533413
NM_015335.5(MED13L):c.480-9C>T rs747533413
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.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.494G>A (p.Cys165Tyr) rs2499953263
NM_015335.5(MED13L):c.4953G>T (p.Glu1651Asp) rs779112405
NM_015335.5(MED13L):c.4955+1G>A rs2499825770
NM_015335.5(MED13L):c.4956-11TC[3] rs778820767
NM_015335.5(MED13L):c.4956-3C>T rs2499823373
NM_015335.5(MED13L):c.4956-7dup
NM_015335.5(MED13L):c.5008A>G (p.Ser1670Gly)
NM_015335.5(MED13L):c.5016C>T (p.Ala1672=)
NM_015335.5(MED13L):c.5024C>T (p.Pro1675Leu) rs748488755
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.5110A>G (p.Met1704Val) rs759517262
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.5160T>C (p.Asn1720=) rs2137270716
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.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.5282C>A (p.Pro1761Gln) rs1877277272
NM_015335.5(MED13L):c.5283A>G (p.Pro1761=) rs2137264574
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.5316G>A (p.Thr1772=) rs746426523
NM_015335.5(MED13L):c.5346G>A (p.Met1782Ile) rs2499816025
NM_015335.5(MED13L):c.5360C>T (p.Pro1787Leu) rs2499815983
NM_015335.5(MED13L):c.5365-15T>G rs1404193983
NM_015335.5(MED13L):c.5365-18T>C rs2499799519
NM_015335.5(MED13L):c.5365-20G>T rs2499799540
NM_015335.5(MED13L):c.53A>T (p.His18Leu) rs2500191265
NM_015335.5(MED13L):c.5482G>T (p.Val1828Leu) rs202075689
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.5531C>G (p.Thr1844Ser) rs777694778
NM_015335.5(MED13L):c.5545G>T (p.Glu1849Ter)
NM_015335.5(MED13L):c.5551T>C (p.Leu1851=)
NM_015335.5(MED13L):c.5559C>G (p.Thr1853=)
NM_015335.5(MED13L):c.5581C>G (p.Pro1861Ala)
NM_015335.5(MED13L):c.5583A>G (p.Pro1861=)
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.5589-29TTCCCC[3] rs950387382
NM_015335.5(MED13L):c.5589-9A>C
NM_015335.5(MED13L):c.5589-9A>G rs1565987503
NM_015335.5(MED13L):c.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.5631G>T (p.Gln1877His) rs1555241858
NM_015335.5(MED13L):c.5658T>A (p.Ile1886=) rs1592904456
NM_015335.5(MED13L):c.5708G>A (p.Arg1903His) rs1039753021
NM_015335.5(MED13L):c.5716C>T (p.His1906Tyr) rs1876852244
NM_015335.5(MED13L):c.5732-15G>A
NM_015335.5(MED13L):c.5732-18T>C
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.5798G>T (p.Arg1933Leu) rs778173015
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>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.5891-16A>C rs188574299
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.5943G>C (p.Gln1981His) rs1245093318
NM_015335.5(MED13L):c.5985C>T (p.His1995=) rs1366083664
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) rs1876520009
NM_015335.5(MED13L):c.601C>T (p.Gln201Ter) rs1029377279
NM_015335.5(MED13L):c.6030C>T (p.Ala2010=)
NM_015335.5(MED13L):c.6037C>G (p.Pro2013Ala) rs1387712841
NM_015335.5(MED13L):c.603G>T (p.Gln201His) rs1880117720
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+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.60C>T (p.Asn20=) rs746193221
NM_015335.5(MED13L):c.6139C>G (p.Leu2047Val) rs1002419793
NM_015335.5(MED13L):c.6189T>A (p.Ser2063=) rs2499964299
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.626-6C>T
NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser) rs1555240376
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.6311C>T (p.Ala2104Val) rs1177608611
NM_015335.5(MED13L):c.6322A>G (p.Asn2108Asp)
NM_015335.5(MED13L):c.6329C>T (p.Pro2110Leu) rs2499956209
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.6388-7dup rs753004245
NM_015335.5(MED13L):c.6427G>T (p.Glu2143Ter)
NM_015335.5(MED13L):c.6435G>T (p.Leu2145=) rs1185471273
NM_015335.5(MED13L):c.6444G>C (p.Arg2148Ser)
NM_015335.5(MED13L):c.6465C>T (p.His2155=)
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015335.5(MED13L):c.6500+18C>T rs2499947398
NM_015335.5(MED13L):c.6501-9C>G rs2137182384
NM_015335.5(MED13L):c.6527T>C (p.Leu2176Pro)
NM_015335.5(MED13L):c.6540G>A (p.Thr2180=) rs371240974
NM_015335.5(MED13L):c.6562C>T (p.Arg2188Cys) rs2499940940
NM_015335.5(MED13L):c.6569C>G (p.Ser2190Cys) rs1161076932
NM_015335.5(MED13L):c.6570dup (p.Cys2191fs) rs1592888491
NM_015335.5(MED13L):c.6582C>T (p.Val2194=) rs956746436
NM_015335.5(MED13L):c.6584A>G (p.His2195Arg)
NM_015335.5(MED13L):c.658C>T (p.Leu220=)
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.681_682delinsTG (p.Met227_Ser228delinsIleAla) rs2499946063
NM_015335.5(MED13L):c.682T>G (p.Ser228Ala) rs1879954912
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.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.732G>C (p.Pro244=) rs1359784128
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015335.5(MED13L):c.785A>G (p.Asp262Gly) rs1417904088
NM_015335.5(MED13L):c.7G>A (p.Ala3Thr) rs2500191685
NM_015335.5(MED13L):c.806T>C (p.Val269Ala)
NM_015335.5(MED13L):c.821-6T>C
NM_015335.5(MED13L):c.829C>G (p.Arg277Gly) rs1879920345
NM_015335.5(MED13L):c.867G>C (p.Gln289His) rs145709378
NM_015335.5(MED13L):c.911A>G (p.His304Arg)
NM_015335.5(MED13L):c.940A>G (p.Ser314Gly)
NM_015335.5(MED13L):c.942T>C (p.Ser314=) rs762959649
NM_015335.5(MED13L):c.979C>T (p.Pro327Ser) rs2499943410
NM_015335.5(MED13L):c.987C>G (p.Thr329=) rs1879911823
NM_015335.5(MED13L):c.993A>G (p.Pro331=) rs780190117

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.