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: 691
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.3070T>C (p.Leu1024=) rs1865787 0.15121
NM_015335.5(MED13L):c.5928T>C (p.Thr1976=) rs2304460 0.14937
NM_015335.5(MED13L):c.2013-7C>T rs199749418 0.12825
NM_015335.5(MED13L):c.6354C>T (p.Pro2118=) rs3088260 0.06405
NM_015335.5(MED13L):c.579T>C (p.Asn193=) rs11067880 0.03424
NM_015335.5(MED13L):c.6068-8C>T rs61936939 0.01078
NM_015335.5(MED13L):c.948G>A (p.Lys316=) rs61748072 0.01036
NM_015335.5(MED13L):c.1009+12C>G rs113214439 0.00872
NM_015335.5(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863 0.00860
NM_015335.5(MED13L):c.3450C>T (p.Pro1150=) rs78561507 0.00853
NM_015335.5(MED13L):c.5955C>T (p.Leu1985=) rs113830913 0.00853
NM_015335.5(MED13L):c.1590C>T (p.Ala530=) rs114269768 0.00638
NM_015335.5(MED13L):c.1863T>C (p.Ile621=) rs61748071 0.00444
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200 0.00377
NM_015335.5(MED13L):c.2239-16T>C rs147314859 0.00355
NM_015335.5(MED13L):c.1725G>A (p.Ser575=) rs77263223 0.00295
NM_015335.5(MED13L):c.1095G>A (p.Ser365=) rs144327790 0.00284
NM_015335.5(MED13L):c.1283A>G (p.His428Arg) rs144410580 0.00222
NM_015335.5(MED13L):c.1215T>G (p.Pro405=) rs147976467 0.00182
NM_015335.5(MED13L):c.4593C>T (p.Thr1531=) rs138774472 0.00172
NM_015335.5(MED13L):c.1904G>A (p.Ser635Asn) rs144457722 0.00141
NM_015335.5(MED13L):c.4522C>T (p.His1508Tyr) rs75575870 0.00136
NM_015335.5(MED13L):c.2056A>C (p.Lys686Gln) rs139048741 0.00126
NM_015335.5(MED13L):c.5365-13G>A rs187309577 0.00119
NM_015335.5(MED13L):c.6225+20C>T rs146803417 0.00116
NM_015335.5(MED13L):c.3330T>C (p.Tyr1110=) rs139711748 0.00114
NM_015335.5(MED13L):c.4467C>T (p.Ser1489=) rs141892892 0.00113
NM_015335.5(MED13L):c.1008A>C (p.Leu336=) rs150782464 0.00084
NM_015335.5(MED13L):c.1010-14G>A rs368042803 0.00083
NM_015335.5(MED13L):c.771C>T (p.Asp257=) rs148136300 0.00061
NM_015335.5(MED13L):c.2013-5T>C rs372464585 0.00059
NM_015335.5(MED13L):c.1910G>A (p.Arg637His) rs146499452 0.00052
NM_015335.5(MED13L):c.40C>T (p.Leu14=) rs148454293 0.00048
NM_015335.5(MED13L):c.73-7T>C rs199550041 0.00048
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile) rs148416895 0.00046
NM_015335.5(MED13L):c.5809A>C (p.Ile1937Leu) rs143602183 0.00044
NM_015335.5(MED13L):c.4459C>A (p.Pro1487Thr) rs146112707 0.00041
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu) rs112709561 0.00041
NM_015335.5(MED13L):c.2703_2705dup (p.Pro901_Met902insIle) rs556713164 0.00035
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile) rs142907547 0.00035
NM_015335.5(MED13L):c.1877C>T (p.Pro626Leu) rs186297695 0.00034
NM_015335.5(MED13L):c.4758G>A (p.Pro1586=) rs141818426 0.00034
NM_015335.5(MED13L):c.2239-7T>C rs144147395 0.00032
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu) rs113890513 0.00032
NM_015335.5(MED13L):c.5502C>T (p.His1834=) rs200440551 0.00024
NM_015335.5(MED13L):c.5732-3C>T rs370245982 0.00024
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663 0.00023
NM_015335.5(MED13L):c.4853C>G (p.Thr1618Ser) rs150339628 0.00023
NM_015335.5(MED13L):c.5559C>T (p.Thr1853=) rs141451756 0.00020
NM_015335.5(MED13L):c.1316A>G (p.Asn439Ser) rs189898124 0.00019
NM_015335.5(MED13L):c.201C>T (p.Asn67=) rs144509091 0.00019
NM_015335.5(MED13L):c.4339-10A>G rs376463996 0.00019
NM_015335.5(MED13L):c.5664A>G (p.Gln1888=) rs143739741 0.00017
NM_015335.5(MED13L):c.969G>A (p.Met323Ile) rs141207031 0.00017
NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser) rs201987892 0.00016
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu) rs537593859 0.00015
NM_015335.5(MED13L):c.3063C>T (p.Pro1021=) rs142191700 0.00013
NM_015335.5(MED13L):c.3498G>T (p.Ala1166=) rs200960898 0.00013
NM_015335.5(MED13L):c.4989G>A (p.Thr1663=) rs755349611 0.00012
NM_015335.5(MED13L):c.2292G>A (p.Pro764=) rs754150111 0.00011
NM_015335.5(MED13L):c.3079G>A (p.Ala1027Thr) rs757625355 0.00011
NM_015335.5(MED13L):c.4767G>A (p.Ser1589=) rs573917510 0.00011
NM_015335.5(MED13L):c.5508G>A (p.Gln1836=) rs150860907 0.00011
NM_015335.5(MED13L):c.5563G>A (p.Val1855Ile) rs182752795 0.00011
NM_015335.5(MED13L):c.1447C>A (p.Pro483Thr) rs558160659 0.00010
NM_015335.5(MED13L):c.1970A>T (p.Asp657Val) rs775442091 0.00010
NM_015335.5(MED13L):c.2682A>G (p.Ala894=) rs146390612 0.00010
NM_015335.5(MED13L):c.650A>C (p.Asn217Thr) rs772021396 0.00010
NM_015335.5(MED13L):c.656C>T (p.Thr219Met) rs191743300 0.00010
NM_015335.5(MED13L):c.3935-12C>T rs764151600 0.00009
NM_015335.5(MED13L):c.1308C>T (p.Val436=) rs149631695 0.00008
NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly) rs201414612 0.00008
NM_015335.5(MED13L):c.5890+11T>G rs138264591 0.00008
NM_015335.5(MED13L):c.2035C>T (p.Arg679Trp) rs368437832 0.00006
NM_015335.5(MED13L):c.3068C>T (p.Thr1023Met) rs747244814 0.00006
NM_015335.5(MED13L):c.3354C>T (p.Ser1118=) rs368878357 0.00006
NM_015335.5(MED13L):c.3429G>A (p.Ala1143=) rs753776073 0.00006
NM_015335.5(MED13L):c.3788G>A (p.Arg1263Gln) rs374506267 0.00006
NM_015335.5(MED13L):c.5115C>T (p.Arg1705=) rs370324246 0.00006
NM_015335.5(MED13L):c.6348G>A (p.Ser2116=) rs769874135 0.00006
NM_015335.5(MED13L):c.6545A>G (p.Asn2182Ser) rs762926166 0.00006
NM_015335.5(MED13L):c.1185A>C (p.Gln395His) rs374884525 0.00005
NM_015335.5(MED13L):c.2570-7T>C rs768826816 0.00005
NM_015335.5(MED13L):c.3934+3A>G rs747852225 0.00005
NM_015335.5(MED13L):c.573G>C (p.Leu191Phe) rs201690921 0.00005
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg) rs1210016465 0.00004
NM_015335.5(MED13L):c.1503A>G (p.Gln501=) rs538329234 0.00004
NM_015335.5(MED13L):c.2778C>T (p.Pro926=) rs144357346 0.00004
NM_015335.5(MED13L):c.3273C>T (p.Pro1091=) rs145072799 0.00004
NM_015335.5(MED13L):c.3306A>G (p.Pro1102=) rs375910790 0.00004
NM_015335.5(MED13L):c.3435C>T (p.Val1145=) rs568906108 0.00004
NM_015335.5(MED13L):c.4396C>T (p.Arg1466Cys) rs530432287 0.00004
NM_015335.5(MED13L):c.5261T>C (p.Val1754Ala) rs373887964 0.00004
NM_015335.5(MED13L):c.6522C>T (p.Asn2174=) rs370692319 0.00004
NM_015335.5(MED13L):c.1124A>G (p.His375Arg) rs376059806 0.00003
NM_015335.5(MED13L):c.1223A>G (p.Asn408Ser) rs377207761 0.00003
NM_015335.5(MED13L):c.1390T>G (p.Ser464Ala) rs769509528 0.00003
NM_015335.5(MED13L):c.1855T>G (p.Cys619Gly) rs1345208839 0.00003
NM_015335.5(MED13L):c.2196A>G (p.Lys732=) rs545013557 0.00003
NM_015335.5(MED13L):c.2470-13C>T rs757038374 0.00003
NM_015335.5(MED13L):c.2913G>T (p.Leu971=) rs201948814 0.00003
NM_015335.5(MED13L):c.3752G>A (p.Arg1251His) rs142574863 0.00003
NM_015335.5(MED13L):c.3819G>A (p.Thr1273=) rs542711978 0.00003
NM_015335.5(MED13L):c.4261A>G (p.Ile1421Val) rs747089502 0.00003
NM_015335.5(MED13L):c.564A>G (p.Pro188=) rs370983626 0.00003
NM_015335.5(MED13L):c.5850G>A (p.Leu1950=) rs1482014512 0.00003
NM_015335.5(MED13L):c.626-10C>A rs776407123 0.00003
NM_015335.5(MED13L):c.626-4A>G rs768048151 0.00003
NM_015335.5(MED13L):c.6580G>A (p.Val2194Ile) rs377611234 0.00003
NM_015335.5(MED13L):c.672A>T (p.Ala224=) rs756122556 0.00003
NM_015335.5(MED13L):c.72+10C>T rs779448093 0.00003
NM_015335.5(MED13L):c.1765C>T (p.Leu589Phe) rs372595490 0.00002
NM_015335.5(MED13L):c.2351G>A (p.Arg784Gln) rs749407155 0.00002
NM_015335.5(MED13L):c.3069G>A (p.Thr1023=) rs780149328 0.00002
NM_015335.5(MED13L):c.4269G>T (p.Val1423=) rs997965874 0.00002
NM_015335.5(MED13L):c.4788T>A (p.Ile1596=) rs757338321 0.00002
NM_015335.5(MED13L):c.479+18T>C rs200912170 0.00002
NM_015335.5(MED13L):c.5058G>A (p.Thr1686=) rs74757206 0.00002
NM_015335.5(MED13L):c.5162C>T (p.Ser1721Phe) rs755513948 0.00002
NM_015335.5(MED13L):c.5471A>G (p.Asn1824Ser) rs763491465 0.00002
NM_015335.5(MED13L):c.6486G>A (p.Thr2162=) rs763493523 0.00002
NM_015335.5(MED13L):c.6549G>A (p.Pro2183=) rs768288594 0.00002
NM_015335.5(MED13L):c.1091G>A (p.Arg364Lys) rs993003177 0.00001
NM_015335.5(MED13L):c.1175+5G>A rs567368642 0.00001
NM_015335.5(MED13L):c.1309G>A (p.Gly437Arg) rs1478066317 0.00001
NM_015335.5(MED13L):c.1385C>T (p.Pro462Leu) rs772715909 0.00001
NM_015335.5(MED13L):c.1525G>A (p.Gly509Arg) rs1427629915 0.00001
NM_015335.5(MED13L):c.1654A>G (p.Ile552Val) rs371805787 0.00001
NM_015335.5(MED13L):c.1859G>A (p.Gly620Glu) rs780566155 0.00001
NM_015335.5(MED13L):c.1924G>C (p.Asp642His) rs375037374 0.00001
NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe) rs752891084 0.00001
NM_015335.5(MED13L):c.2075C>G (p.Pro692Arg) rs781324695 0.00001
NM_015335.5(MED13L):c.2117G>A (p.Gly706Glu) rs200257416 0.00001
NM_015335.5(MED13L):c.2211G>A (p.Thr737=) rs747879843 0.00001
NM_015335.5(MED13L):c.2350C>T (p.Arg784Trp) rs757359386 0.00001
NM_015335.5(MED13L):c.2468G>A (p.Gly823Glu) rs1879015895 0.00001
NM_015335.5(MED13L):c.2488C>T (p.Arg830Cys) rs375719087 0.00001
NM_015335.5(MED13L):c.2570-11C>G rs765381458 0.00001
NM_015335.5(MED13L):c.2791-3C>T rs768223325 0.00001
NM_015335.5(MED13L):c.2812G>A (p.Val938Ile) rs750422287 0.00001
NM_015335.5(MED13L):c.2871G>A (p.Pro957=) rs771187948 0.00001
NM_015335.5(MED13L):c.3000C>T (p.Asn1000=) rs775221277 0.00001
NM_015335.5(MED13L):c.3355G>A (p.Val1119Met) rs574079603 0.00001
NM_015335.5(MED13L):c.3606G>A (p.Met1202Ile) rs752751372 0.00001
NM_015335.5(MED13L):c.360G>A (p.Thr120=) rs534984622 0.00001
NM_015335.5(MED13L):c.3818C>T (p.Thr1273Met) rs775807063 0.00001
NM_015335.5(MED13L):c.3834G>A (p.Ala1278=) rs145466664 0.00001
NM_015335.5(MED13L):c.4265T>C (p.Val1422Ala) rs780657499 0.00001
NM_015335.5(MED13L):c.4275A>G (p.Pro1425=) rs112942800 0.00001
NM_015335.5(MED13L):c.4294G>A (p.Glu1432Lys) rs758950766 0.00001
NM_015335.5(MED13L):c.4368C>T (p.Ile1456=) rs1592915963 0.00001
NM_015335.5(MED13L):c.4386C>T (p.Asp1462=) rs760971347 0.00001
NM_015335.5(MED13L):c.4471G>A (p.Glu1491Lys) rs757111256 0.00001
NM_015335.5(MED13L):c.4508C>T (p.Ala1503Val) rs775785751 0.00001
NM_015335.5(MED13L):c.451G>A (p.Glu151Lys) rs773315749 0.00001
NM_015335.5(MED13L):c.4607C>T (p.Ala1536Val) rs527644823 0.00001
NM_015335.5(MED13L):c.473A>G (p.Asn158Ser) rs781607336 0.00001
NM_015335.5(MED13L):c.4839G>A (p.Gly1613=) rs754275970 0.00001
NM_015335.5(MED13L):c.4859G>A (p.Gly1620Asp) rs775899433 0.00001
NM_015335.5(MED13L):c.4880A>G (p.Gln1627Arg) rs752932375 0.00001
NM_015335.5(MED13L):c.4907C>T (p.Thr1636Ile) rs140287114 0.00001
NM_015335.5(MED13L):c.4956-10C>G rs1060504701 0.00001
NM_015335.5(MED13L):c.4956-5T>A rs771118133 0.00001
NM_015335.5(MED13L):c.4988C>T (p.Thr1663Met) rs142102185 0.00001
NM_015335.5(MED13L):c.5052G>A (p.Pro1684=) rs753488932 0.00001
NM_015335.5(MED13L):c.5376A>G (p.Pro1792=) rs779527731 0.00001
NM_015335.5(MED13L):c.5409C>T (p.Ala1803=) rs756949902 0.00001
NM_015335.5(MED13L):c.546G>A (p.Glu182=) rs781132536 0.00001
NM_015335.5(MED13L):c.5615G>A (p.Arg1872His) rs28940310 0.00001
NM_015335.5(MED13L):c.57C>A (p.Ser19=) rs1060504702 0.00001
NM_015335.5(MED13L):c.6068A>G (p.Asp2023Gly) rs121918333 0.00001
NM_015335.5(MED13L):c.6318T>C (p.Ala2106=) rs1258835287 0.00001
NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu) rs774432060 0.00001
NM_015335.5(MED13L):c.731C>T (p.Pro244Leu) rs775015157 0.00001
NM_015335.5(MED13L):c.805G>A (p.Val269Ile) rs1879944991 0.00001
NM_015335.5(MED13L):c.861C>A (p.Ile287=) rs61756230 0.00001
NM_015335.5(MED13L):c.879G>A (p.Pro293=) rs140586744 0.00001
NC_000012.11:g.(?_116418535)_(116420428_?)del
NC_000012.11:g.(?_116534454)_(116534577_?)del
NC_000012.11:g.(?_116534454)_(116549337_?)del
NC_000012.12:g.(?_115961246)_(116096772_?)del
NM_001200.4(BMP2):c.962A>T (p.His321Leu)
NM_004302.5(ACVR1B):c.912G>A (p.Met304Ile) rs2120691810
NM_015335.4(MED13L):c.3519_3521delinsT (p.Tyr1174fs) rs1565997261
NM_015335.4(MED13L):c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr) rs1555241160
NM_015335.5(MED13L):c.1003A>G (p.Ile335Val)
NM_015335.5(MED13L):c.1010-12C>T
NM_015335.5(MED13L):c.1010-4dup rs771044608
NM_015335.5(MED13L):c.1010-6T>G
NM_015335.5(MED13L):c.1036G>C (p.Ala346Pro)
NM_015335.5(MED13L):c.1064G>A (p.Gly355Glu)
NM_015335.5(MED13L):c.106A>G (p.Asn36Asp)
NM_015335.5(MED13L):c.1073C>T (p.Thr358Met)
NM_015335.5(MED13L):c.1076T>C (p.Met359Thr)
NM_015335.5(MED13L):c.107A>G (p.Asn36Ser)
NM_015335.5(MED13L):c.1086A>G (p.Pro362=) rs2137415289
NM_015335.5(MED13L):c.1128G>A (p.Met376Ile)
NM_015335.5(MED13L):c.1135C>T (p.Arg379Ter)
NM_015335.5(MED13L):c.1136G>A (p.Arg379Gln)
NM_015335.5(MED13L):c.1164A>G (p.Arg388=) rs1566011405
NM_015335.5(MED13L):c.1175+12C>T
NM_015335.5(MED13L):c.1176-1G>A rs1566010195
NM_015335.5(MED13L):c.1176-3T>C
NM_015335.5(MED13L):c.1176-9C>A
NM_015335.5(MED13L):c.1192A>C (p.Thr398Pro)
NM_015335.5(MED13L):c.119A>G (p.His40Arg)
NM_015335.5(MED13L):c.124G>T (p.Asp42Tyr) rs1247142719
NM_015335.5(MED13L):c.1260A>C (p.Arg420Ser) rs768900677
NM_015335.5(MED13L):c.1271C>A (p.Ser424Tyr)
NM_015335.5(MED13L):c.1280+11A>G
NM_015335.5(MED13L):c.1280G>A (p.Arg427Lys)
NM_015335.5(MED13L):c.1281-17G>A
NM_015335.5(MED13L):c.1297C>T (p.Arg433Cys)
NM_015335.5(MED13L):c.1298G>A (p.Arg433His)
NM_015335.5(MED13L):c.1300_1302del (p.Cys434del)
NM_015335.5(MED13L):c.1319G>A (p.Arg440Gln)
NM_015335.5(MED13L):c.1328C>T (p.Thr443Ile)
NM_015335.5(MED13L):c.1344G>A (p.Gly448=)
NM_015335.5(MED13L):c.1349G>T (p.Ser450Ile)
NM_015335.5(MED13L):c.134C>G (p.Pro45Arg)
NM_015335.5(MED13L):c.1355G>C (p.Gly452Ala)
NM_015335.5(MED13L):c.1362A>G (p.Ser454=)
NM_015335.5(MED13L):c.1390TCT[1] (p.Ser465del)
NM_015335.5(MED13L):c.1394C>T (p.Ser465Phe)
NM_015335.5(MED13L):c.1396A>C (p.Lys466Gln)
NM_015335.5(MED13L):c.1405dup (p.Thr469fs) rs2137386388
NM_015335.5(MED13L):c.1406C>T (p.Thr469Ile)
NM_015335.5(MED13L):c.1423A>G (p.Lys475Glu) rs1879225158
NM_015335.5(MED13L):c.147C>A (p.Ala49=)
NM_015335.5(MED13L):c.1482C>T (p.Ala494=)
NM_015335.5(MED13L):c.1483G>A (p.Glu495Lys)
NM_015335.5(MED13L):c.1486G>T (p.Glu496Ter)
NM_015335.5(MED13L):c.1508C>T (p.Thr503Ile)
NM_015335.5(MED13L):c.1543T>G (p.Ser515Ala) rs777986630
NM_015335.5(MED13L):c.1551A>C (p.Leu517Phe)
NM_015335.5(MED13L):c.1551A>T (p.Leu517Phe)
NM_015335.5(MED13L):c.1563C>T (p.Ser521=)
NM_015335.5(MED13L):c.1589C>T (p.Ala530Val)
NM_015335.5(MED13L):c.1617A>C (p.Gln539His)
NM_015335.5(MED13L):c.1617A>G (p.Gln539=)
NM_015335.5(MED13L):c.1629T>A (p.Asn543Lys)
NM_015335.5(MED13L):c.1637A>G (p.Asp546Gly)
NM_015335.5(MED13L):c.1649C>G (p.Ser550Cys)
NM_015335.5(MED13L):c.1650C>G (p.Ser550=)
NM_015335.5(MED13L):c.1658C>A (p.Ser553Tyr)
NM_015335.5(MED13L):c.166A>G (p.Ile56Val)
NM_015335.5(MED13L):c.1689A>T (p.Pro563=)
NM_015335.5(MED13L):c.1722A>G (p.Pro574=)
NM_015335.5(MED13L):c.1724C>T (p.Ser575Leu) rs377144746
NM_015335.5(MED13L):c.1728C>T (p.Val576=)
NM_015335.5(MED13L):c.1758A>T (p.Gly586=)
NM_015335.5(MED13L):c.1773G>A (p.Gln591=) rs3741768
NM_015335.5(MED13L):c.1780A>G (p.Thr594Ala)
NM_015335.5(MED13L):c.1784T>C (p.Leu595Pro) rs750811062
NM_015335.5(MED13L):c.1785G>C (p.Leu595=) rs1592942104
NM_015335.5(MED13L):c.1797T>C (p.Thr599=)
NM_015335.5(MED13L):c.1803C>T (p.Leu601=)
NM_015335.5(MED13L):c.1804G>A (p.Val602Ile)
NM_015335.5(MED13L):c.1814G>A (p.Arg605Lys)
NM_015335.5(MED13L):c.1828G>T (p.Ala610Ser)
NM_015335.5(MED13L):c.1839C>T (p.Ser613=)
NM_015335.5(MED13L):c.1840G>A (p.Glu614Lys)
NM_015335.5(MED13L):c.1853A>G (p.Tyr618Cys)
NM_015335.5(MED13L):c.1861A>G (p.Ile621Val)
NM_015335.5(MED13L):c.1871C>T (p.Ser624Leu)
NM_015335.5(MED13L):c.1884A>T (p.Ser628=)
NM_015335.5(MED13L):c.1897T>G (p.Trp633Gly)
NM_015335.5(MED13L):c.1914C>T (p.Leu638=) rs1279215396
NM_015335.5(MED13L):c.1928A>G (p.Asp643Gly) rs1344076513
NM_015335.5(MED13L):c.192G>C (p.Leu64=)
NM_015335.5(MED13L):c.1969G>A (p.Asp657Asn) rs760771799
NM_015335.5(MED13L):c.1973C>T (p.Ala658Val)
NM_015335.5(MED13L):c.1975A>G (p.Lys659Glu)
NM_015335.5(MED13L):c.1999A>G (p.Thr667Ala)
NM_015335.5(MED13L):c.2012+10CT[2] rs564143152
NM_015335.5(MED13L):c.2012+12C>G
NM_015335.5(MED13L):c.2013-10_2013-9insTG rs1555247737
NM_015335.5(MED13L):c.2013-10_2013-9insTTG
NM_015335.5(MED13L):c.2013-9dup
NM_015335.5(MED13L):c.2014C>T (p.Leu672Phe) rs753868437
NM_015335.5(MED13L):c.2022A>C (p.Ala674=)
NM_015335.5(MED13L):c.2036G>A (p.Arg679Gln) rs1366343903
NM_015335.5(MED13L):c.2056A>G (p.Lys686Glu)
NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter) rs2137378964
NM_015335.5(MED13L):c.2081A>G (p.His694Arg)
NM_015335.5(MED13L):c.2097G>A (p.Leu699=)
NM_015335.5(MED13L):c.2109A>G (p.Gln703=)
NM_015335.5(MED13L):c.2110C>T (p.Gln704Ter)
NM_015335.5(MED13L):c.211G>A (p.Val71Ile)
NM_015335.5(MED13L):c.2175C>T (p.Tyr725=)
NM_015335.5(MED13L):c.2183C>T (p.Thr728Ile)
NM_015335.5(MED13L):c.2197T>A (p.Cys733Ser)
NM_015335.5(MED13L):c.2220T>G (p.Asp740Glu)
NM_015335.5(MED13L):c.2222C>G (p.Ser741Cys)
NM_015335.5(MED13L):c.2226G>C (p.Leu742=)
NM_015335.5(MED13L):c.2238+13A>T
NM_015335.5(MED13L):c.2238+13dup
NM_015335.5(MED13L):c.2239-3_2239-2del
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu) rs368050346
NM_015335.5(MED13L):c.2260A>G (p.Lys754Glu)
NM_015335.5(MED13L):c.2268C>G (p.Val756=)
NM_015335.5(MED13L):c.2282A>G (p.His761Arg)
NM_015335.5(MED13L):c.2289G>T (p.Thr763=)
NM_015335.5(MED13L):c.230A>G (p.Lys77Arg)
NM_015335.5(MED13L):c.2311G>A (p.Ala771Thr)
NM_015335.5(MED13L):c.2316_2317del (p.Met772fs) rs1566005476
NM_015335.5(MED13L):c.2320A>G (p.Ile774Val)
NM_015335.5(MED13L):c.2344+13A>G
NM_015335.5(MED13L):c.2345-8T>G
NM_015335.5(MED13L):c.2352G>A (p.Arg784=) rs1226259653
NM_015335.5(MED13L):c.2352G>T (p.Arg784=) rs1226259653
NM_015335.5(MED13L):c.2354A>T (p.Gln785Leu) rs1555247342
NM_015335.5(MED13L):c.2375C>G (p.Ala792Gly)
NM_015335.5(MED13L):c.2465T>G (p.Leu822Arg)
NM_015335.5(MED13L):c.2469+11C>T
NM_015335.5(MED13L):c.2469+18A>G
NM_015335.5(MED13L):c.2470-12G>A
NM_015335.5(MED13L):c.2470-15A>G
NM_015335.5(MED13L):c.2470-20A>G
NM_015335.5(MED13L):c.2483C>T (p.Ala828Val)
NM_015335.5(MED13L):c.2485C>T (p.Leu829=)
NM_015335.5(MED13L):c.2489G>A (p.Arg830His)
NM_015335.5(MED13L):c.2509G>T (p.Val837Phe)
NM_015335.5(MED13L):c.2523C>T (p.Asp841=)
NM_015335.5(MED13L):c.2530C>T (p.Leu844Phe)
NM_015335.5(MED13L):c.2558C>T (p.Pro853Leu)
NM_015335.5(MED13L):c.2569+16T>A
NM_015335.5(MED13L):c.2570-14T>C
NM_015335.5(MED13L):c.2570-15A>T
NM_015335.5(MED13L):c.2570-8A>T
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_015335.5(MED13L):c.2585A>C (p.Gln862Pro)
NM_015335.5(MED13L):c.2604A>G (p.Pro868=) rs772409015
NM_015335.5(MED13L):c.2621A>C (p.His874Pro)
NM_015335.5(MED13L):c.263G>A (p.Trp88Ter) rs1870202051
NM_015335.5(MED13L):c.2648A>G (p.Tyr883Cys)
NM_015335.5(MED13L):c.2662A>G (p.Ser888Gly)
NM_015335.5(MED13L):c.2705T>C (p.Met902Thr)
NM_015335.5(MED13L):c.2713A>C (p.Met905Leu)
NM_015335.5(MED13L):c.2744T>C (p.Met915Thr)
NM_015335.5(MED13L):c.277A>G (p.Asn93Asp)
NM_015335.5(MED13L):c.278A>G (p.Asn93Ser)
NM_015335.5(MED13L):c.2790+11A>G
NM_015335.5(MED13L):c.2790+12T>C
NM_015335.5(MED13L):c.2790+18A>G
NM_015335.5(MED13L):c.2809A>C (p.Lys937Gln)
NM_015335.5(MED13L):c.2818T>C (p.Ser940Pro)
NM_015335.5(MED13L):c.2824C>G (p.Gln942Glu)
NM_015335.5(MED13L):c.2826A>G (p.Gln942=)
NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu) rs764385703
NM_015335.5(MED13L):c.2834T>C (p.Val945Ala)
NM_015335.5(MED13L):c.2845A>G (p.Met949Val)
NM_015335.5(MED13L):c.2854C>T (p.Pro952Ser)
NM_015335.5(MED13L):c.2868G>A (p.Leu956=)
NM_015335.5(MED13L):c.2886A>C (p.Leu962=)
NM_015335.5(MED13L):c.2911C>T (p.Leu971=) rs2137328447
NM_015335.5(MED13L):c.2918G>A (p.Arg973Gln)
NM_015335.5(MED13L):c.2925A>G (p.Ser975=)
NM_015335.5(MED13L):c.2925A>T (p.Ser975=)
NM_015335.5(MED13L):c.2932A>G (p.Ile978Val)
NM_015335.5(MED13L):c.2959A>G (p.Met987Val)
NM_015335.5(MED13L):c.2965C>G (p.Pro989Ala)
NM_015335.5(MED13L):c.2996+7A>G
NM_015335.5(MED13L):c.2996A>G (p.Asn999Ser)
NM_015335.5(MED13L):c.2997-11T>G
NM_015335.5(MED13L):c.3015G>C (p.Gly1005=)
NM_015335.5(MED13L):c.3018C>T (p.Ser1006=)
NM_015335.5(MED13L):c.3064G>A (p.Val1022Met)
NM_015335.5(MED13L):c.3078C>T (p.Ser1026=)
NM_015335.5(MED13L):c.3095A>G (p.Asn1032Ser)
NM_015335.5(MED13L):c.311-10_311-4del
NM_015335.5(MED13L):c.311-20T>C
NM_015335.5(MED13L):c.311-21_311-16del
NM_015335.5(MED13L):c.311-4dup rs150398214
NM_015335.5(MED13L):c.3114A>G (p.Leu1038=)
NM_015335.5(MED13L):c.3123A>C (p.Pro1041=)
NM_015335.5(MED13L):c.3165G>A (p.Arg1055=)
NM_015335.5(MED13L):c.3207A>G (p.Gln1069=)
NM_015335.5(MED13L):c.3213T>C (p.Ser1071=)
NM_015335.5(MED13L):c.3231C>T (p.Thr1077=)
NM_015335.5(MED13L):c.3255C>T (p.Thr1085=)
NM_015335.5(MED13L):c.3258C>G (p.Pro1086=)
NM_015335.5(MED13L):c.3265A>G (p.Thr1089Ala)
NM_015335.5(MED13L):c.327C>T (p.Leu109=)
NM_015335.5(MED13L):c.3285G>A (p.Val1095=)
NM_015335.5(MED13L):c.3290C>T (p.Pro1097Leu)
NM_015335.5(MED13L):c.3292G>A (p.Ala1098Thr)
NM_015335.5(MED13L):c.3295A>G (p.Thr1099Ala)
NM_015335.5(MED13L):c.3327C>T (p.Leu1109=)
NM_015335.5(MED13L):c.3336C>T (p.Thr1112=)
NM_015335.5(MED13L):c.3343C>A (p.Leu1115Ile)
NM_015335.5(MED13L):c.3347C>A (p.Ser1116Tyr) rs1878063256
NM_015335.5(MED13L):c.3369T>C (p.Phe1123=)
NM_015335.5(MED13L):c.3381del (p.Phe1128fs)
NM_015335.5(MED13L):c.3396C>T (p.Cys1132=)
NM_015335.5(MED13L):c.3428C>T (p.Ala1143Val) rs763939921
NM_015335.5(MED13L):c.3450C>A (p.Pro1150=)
NM_015335.5(MED13L):c.3476G>A (p.Arg1159His)
NM_015335.5(MED13L):c.3479G>A (p.Cys1160Tyr) rs1565997289
NM_015335.5(MED13L):c.3495T>C (p.Ser1165=)
NM_015335.5(MED13L):c.3498G>A (p.Ala1166=) rs200960898
NM_015335.5(MED13L):c.3522C>T (p.Tyr1174=)
NM_015335.5(MED13L):c.3578T>C (p.Ile1193Thr)
NM_015335.5(MED13L):c.3586G>A (p.Ala1196Thr)
NM_015335.5(MED13L):c.3590C>T (p.Ala1197Val)
NM_015335.5(MED13L):c.3595A>G (p.Arg1199Gly)
NM_015335.5(MED13L):c.3598C>T (p.Arg1200Cys)
NM_015335.5(MED13L):c.359C>T (p.Thr120Met)
NM_015335.5(MED13L):c.3645C>T (p.Thr1215=)
NM_015335.5(MED13L):c.3647A>G (p.Lys1216Arg)
NM_015335.5(MED13L):c.3658G>A (p.Glu1220Lys)
NM_015335.5(MED13L):c.3659A>G (p.Glu1220Gly)
NM_015335.5(MED13L):c.3667A>G (p.Ile1223Val) rs1878044534
NM_015335.5(MED13L):c.3677TCC[3] (p.Leu1229del)
NM_015335.5(MED13L):c.3682C>T (p.Leu1228Phe)
NM_015335.5(MED13L):c.3694C>A (p.Gln1232Lys)
NM_015335.5(MED13L):c.36G>A (p.Ala12=)
NM_015335.5(MED13L):c.3700A>G (p.Thr1234Ala)
NM_015335.5(MED13L):c.3706C>A (p.Pro1236Thr)
NM_015335.5(MED13L):c.3726C>T (p.Phe1242=) rs1422363356
NM_015335.5(MED13L):c.3734A>G (p.Tyr1245Cys) rs1878039306
NM_015335.5(MED13L):c.3741C>T (p.Ser1247=)
NM_015335.5(MED13L):c.3743C>G (p.Ser1248Cys)
NM_015335.5(MED13L):c.3751C>T (p.Arg1251Cys)
NM_015335.5(MED13L):c.3779del (p.Ser1260fs)
NM_015335.5(MED13L):c.3783T>C (p.Tyr1261=)
NM_015335.5(MED13L):c.3787C>T (p.Arg1263Trp)
NM_015335.5(MED13L):c.3789G>C (p.Arg1263=)
NM_015335.5(MED13L):c.3801T>A (p.Asp1267Glu)
NM_015335.5(MED13L):c.3848G>A (p.Arg1283Gln)
NM_015335.5(MED13L):c.3882G>A (p.Val1294=)
NM_015335.5(MED13L):c.3885C>T (p.Asp1295=)
NM_015335.5(MED13L):c.3927C>T (p.His1309=)
NM_015335.5(MED13L):c.3929G>A (p.Ser1310Asn)
NM_015335.5(MED13L):c.3930C>T (p.Ser1310=)
NM_015335.5(MED13L):c.3935-1G>A rs1565995146
NM_015335.5(MED13L):c.3935-9C>A
NM_015335.5(MED13L):c.395+8A>G
NM_015335.5(MED13L):c.395+9A>G
NM_015335.5(MED13L):c.3954C>T (p.Leu1318=)
NM_015335.5(MED13L):c.396-14T>C
NM_015335.5(MED13L):c.3960C>T (p.Ser1320=)
NM_015335.5(MED13L):c.4002C>G (p.Leu1334=) rs772069193
NM_015335.5(MED13L):c.4004A>G (p.Gln1335Arg)
NM_015335.5(MED13L):c.401T>C (p.Leu134Pro) rs1565875400
NM_015335.5(MED13L):c.4025G>A (p.Arg1342His)
NM_015335.5(MED13L):c.4065A>G (p.Gly1355=)
NM_015335.5(MED13L):c.4077G>A (p.Trp1359Ter) rs1565995034
NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala) rs1877746863
NM_015335.5(MED13L):c.4113C>T (p.Tyr1371=)
NM_015335.5(MED13L):c.4114+17G>A
NM_015335.5(MED13L):c.4114+8C>A
NM_015335.5(MED13L):c.4114+8C>G
NM_015335.5(MED13L):c.4115-18A>G
NM_015335.5(MED13L):c.4119G>A (p.Ser1373=)
NM_015335.5(MED13L):c.4137G>A (p.Pro1379=)
NM_015335.5(MED13L):c.4144A>G (p.Ile1382Val)
NM_015335.5(MED13L):c.4158G>C (p.Leu1386=) rs2137287371
NM_015335.5(MED13L):c.4160T>C (p.Val1387Ala)
NM_015335.5(MED13L):c.4161A>G (p.Val1387=)
NM_015335.5(MED13L):c.4166A>G (p.Tyr1389Cys)
NM_015335.5(MED13L):c.4191G>A (p.Ser1397=)
NM_015335.5(MED13L):c.4206G>A (p.Pro1402=)
NM_015335.5(MED13L):c.4217G>A (p.Arg1406Lys)
NM_015335.5(MED13L):c.4247G>A (p.Arg1416His)
NM_015335.5(MED13L):c.4277A>G (p.Glu1426Gly)
NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter) rs1877685759
NM_015335.5(MED13L):c.4319A>G (p.Asp1440Gly)
NM_015335.5(MED13L):c.4328C>A (p.Ala1443Asp)
NM_015335.5(MED13L):c.4330G>A (p.Val1444Ile)
NM_015335.5(MED13L):c.4339-20G>T
NM_015335.5(MED13L):c.4339-9T>C
NM_015335.5(MED13L):c.4342T>G (p.Cys1448Gly)
NM_015335.5(MED13L):c.4347G>A (p.Arg1449=)
NM_015335.5(MED13L):c.437T>A (p.Phe146Tyr)
NM_015335.5(MED13L):c.4382G>A (p.Arg1461His)
NM_015335.5(MED13L):c.4405A>G (p.Lys1469Glu)
NM_015335.5(MED13L):c.4458G>A (p.Gln1486=)
NM_015335.5(MED13L):c.4461T>G (p.Pro1487=)
NM_015335.5(MED13L):c.4484A>G (p.Asn1495Ser)
NM_015335.5(MED13L):c.4509G>T (p.Ala1503=)
NM_015335.5(MED13L):c.4519C>T (p.Arg1507Cys)
NM_015335.5(MED13L):c.4520G>A (p.Arg1507His)
NM_015335.5(MED13L):c.4525C>T (p.His1509Tyr)
NM_015335.5(MED13L):c.4531+17T>C
NM_015335.5(MED13L):c.4532-20C>G
NM_015335.5(MED13L):c.4569A>G (p.Leu1523=)
NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala) rs752521430
NM_015335.5(MED13L):c.4599A>G (p.Pro1533=)
NM_015335.5(MED13L):c.4616A>G (p.Gln1539Arg)
NM_015335.5(MED13L):c.4622C>T (p.Thr1541Met)
NM_015335.5(MED13L):c.4623G>A (p.Thr1541=)
NM_015335.5(MED13L):c.4625C>A (p.Pro1542Gln)
NM_015335.5(MED13L):c.4631A>G (p.Asn1544Ser)
NM_015335.5(MED13L):c.4639C>A (p.Pro1547Thr)
NM_015335.5(MED13L):c.4639C>T (p.Pro1547Ser)
NM_015335.5(MED13L):c.4641C>T (p.Pro1547=)
NM_015335.5(MED13L):c.4660G>A (p.Ala1554Thr)
NM_015335.5(MED13L):c.4698G>A (p.Ser1566=)
NM_015335.5(MED13L):c.4699A>G (p.Asn1567Asp)
NM_015335.5(MED13L):c.4715del (p.Asn1572fs)
NM_015335.5(MED13L):c.4720G>A (p.Ala1574Thr)
NM_015335.5(MED13L):c.472A>G (p.Asn158Asp)
NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys)
NM_015335.5(MED13L):c.4745C>T (p.Ser1582Phe)
NM_015335.5(MED13L):c.475A>T (p.Lys159Ter)
NM_015335.5(MED13L):c.4766C>T (p.Ser1589Leu)
NM_015335.5(MED13L):c.4774T>C (p.Ser1592Pro)
NM_015335.5(MED13L):c.4786A>G (p.Ile1596Val)
NM_015335.5(MED13L):c.479+16G>A
NM_015335.5(MED13L):c.479+8T>C rs2137816605
NM_015335.5(MED13L):c.480-15T>C
NM_015335.5(MED13L):c.480-9C>G
NM_015335.5(MED13L):c.480-9C>T
NM_015335.5(MED13L):c.481G>A (p.Glu161Lys)
NM_015335.5(MED13L):c.4831G>A (p.Val1611Ile)
NM_015335.5(MED13L):c.4837G>A (p.Gly1613Arg)
NM_015335.5(MED13L):c.4854T>G (p.Thr1618=)
NM_015335.5(MED13L):c.4875A>G (p.Arg1625=)
NM_015335.5(MED13L):c.4878G>A (p.Thr1626=)
NM_015335.5(MED13L):c.4886A>G (p.Asn1629Ser)
NM_015335.5(MED13L):c.4932G>C (p.Gln1644His)
NM_015335.5(MED13L):c.4949A>G (p.Gln1650Arg)
NM_015335.5(MED13L):c.494G>A (p.Cys165Tyr)
NM_015335.5(MED13L):c.4953G>A (p.Glu1651=)
NM_015335.5(MED13L):c.4953G>T (p.Glu1651Asp)
NM_015335.5(MED13L):c.4955+13_4955+14insAAT
NM_015335.5(MED13L):c.4955+1G>A
NM_015335.5(MED13L):c.4956-11TC[3]
NM_015335.5(MED13L):c.4956-3C>T
NM_015335.5(MED13L):c.4957G>A (p.Val1653Ile)
NM_015335.5(MED13L):c.4962A>G (p.Thr1654=)
NM_015335.5(MED13L):c.5024C>T (p.Pro1675Leu)
NM_015335.5(MED13L):c.5051C>T (p.Pro1684Leu)
NM_015335.5(MED13L):c.5052G>C (p.Pro1684=)
NM_015335.5(MED13L):c.5057C>A (p.Thr1686Lys)
NM_015335.5(MED13L):c.5110A>G (p.Met1704Val)
NM_015335.5(MED13L):c.511C>T (p.Leu171=)
NM_015335.5(MED13L):c.5134G>A (p.Asp1712Asn) rs1565992052
NM_015335.5(MED13L):c.5160T>C (p.Asn1720=) rs2137270716
NM_015335.5(MED13L):c.5175+10T>G
NM_015335.5(MED13L):c.5175+11G>A
NM_015335.5(MED13L):c.5175+19A>G
NM_015335.5(MED13L):c.5175+1G>A
NM_015335.5(MED13L):c.5176-17dup rs138808854
NM_015335.5(MED13L):c.5176-8G>A
NM_015335.5(MED13L):c.5181G>C (p.Val1727=) rs2137265025
NM_015335.5(MED13L):c.5192A>G (p.Tyr1731Cys)
NM_015335.5(MED13L):c.5211G>A (p.Lys1737=)
NM_015335.5(MED13L):c.5253A>G (p.Ala1751=)
NM_015335.5(MED13L):c.5282C>A (p.Pro1761Gln)
NM_015335.5(MED13L):c.5283A>G (p.Pro1761=) rs2137264574
NM_015335.5(MED13L):c.5284C>T (p.Leu1762=) rs200641273
NM_015335.5(MED13L):c.5295G>A (p.Gln1765=)
NM_015335.5(MED13L):c.5299C>T (p.His1767Tyr) rs2137264450
NM_015335.5(MED13L):c.5308T>C (p.Ser1770Pro)
NM_015335.5(MED13L):c.5313C>T (p.Leu1771=) rs1017360857
NM_015335.5(MED13L):c.5316G>A (p.Thr1772=) rs746426523
NM_015335.5(MED13L):c.5346G>A (p.Met1782Ile)
NM_015335.5(MED13L):c.5360C>T (p.Pro1787Leu)
NM_015335.5(MED13L):c.5365-15T>G
NM_015335.5(MED13L):c.5365-16T>C
NM_015335.5(MED13L):c.5365-18T>C
NM_015335.5(MED13L):c.5365-20G>T
NM_015335.5(MED13L):c.5365C>T (p.Arg1789Trp)
NM_015335.5(MED13L):c.53A>T (p.His18Leu)
NM_015335.5(MED13L):c.5413A>G (p.Ile1805Val)
NM_015335.5(MED13L):c.5445G>A (p.Thr1815=)
NM_015335.5(MED13L):c.5451T>C (p.Gly1817=)
NM_015335.5(MED13L):c.5457G>A (p.Ala1819=)
NM_015335.5(MED13L):c.5466A>G (p.Lys1822=)
NM_015335.5(MED13L):c.5481C>T (p.Phe1827=)
NM_015335.5(MED13L):c.5482G>T (p.Val1828Leu)
NM_015335.5(MED13L):c.5490T>C (p.Tyr1830=)
NM_015335.5(MED13L):c.5493T>C (p.Cys1831=)
NM_015335.5(MED13L):c.5502C>G (p.His1834Gln)
NM_015335.5(MED13L):c.5531C>G (p.Thr1844Ser)
NM_015335.5(MED13L):c.5540A>G (p.His1847Arg)
NM_015335.5(MED13L):c.5589-15T>G
NM_015335.5(MED13L):c.5589-17A>G
NM_015335.5(MED13L):c.5589-29TTCCCC[3]
NM_015335.5(MED13L):c.5589-9A>G
NM_015335.5(MED13L):c.5594G>A (p.Arg1865Gln)
NM_015335.5(MED13L):c.5603A>C (p.Lys1868Thr)
NM_015335.5(MED13L):c.5607A>T (p.Val1869=)
NM_015335.5(MED13L):c.5631G>T (p.Gln1877His) rs1555241858
NM_015335.5(MED13L):c.5658T>A (p.Ile1886=) rs1592904456
NM_015335.5(MED13L):c.5697G>A (p.Gly1899=)
NM_015335.5(MED13L):c.5708G>A (p.Arg1903His)
NM_015335.5(MED13L):c.5716C>T (p.His1906Tyr) rs1876852244
NM_015335.5(MED13L):c.5766_5769del (p.Thr1923fs)
NM_015335.5(MED13L):c.578A>G (p.Asn193Ser)
NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp)
NM_015335.5(MED13L):c.5798G>A (p.Arg1933Gln)
NM_015335.5(MED13L):c.5798G>T (p.Arg1933Leu)
NM_015335.5(MED13L):c.5802G>A (p.Met1934Ile) rs554093251
NM_015335.5(MED13L):c.5817C>T (p.Ala1939=)
NM_015335.5(MED13L):c.5818del (p.Ala1940fs)
NM_015335.5(MED13L):c.5827C>G (p.Pro1943Ala)
NM_015335.5(MED13L):c.5831C>T (p.Ser1944Phe)
NM_015335.5(MED13L):c.583G>A (p.Glu195Lys)
NM_015335.5(MED13L):c.585_586delinsTT (p.Glu195_His196delinsAspTyr)
NM_015335.5(MED13L):c.5891-12T>C
NM_015335.5(MED13L):c.5891-16A>C
NM_015335.5(MED13L):c.5891-16A>G
NM_015335.5(MED13L):c.5891-8C>A
NM_015335.5(MED13L):c.5902A>G (p.Met1968Val)
NM_015335.5(MED13L):c.5929G>A (p.Ala1977Thr)
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)
NM_015335.5(MED13L):c.5946A>G (p.Ser1982=)
NM_015335.5(MED13L):c.5985C>T (p.His1995=) rs1366083664
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) rs1876520009
NM_015335.5(MED13L):c.59A>G (p.Asn20Ser)
NM_015335.5(MED13L):c.601C>T (p.Gln201Ter) rs1029377279
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=)
NM_015335.5(MED13L):c.6060C>T (p.Pro2020=)
NM_015335.5(MED13L):c.6067+16G>A
NM_015335.5(MED13L):c.6067+7A>T
NM_015335.5(MED13L):c.6068-13C>G
NM_015335.5(MED13L):c.6068-17T>C
NM_015335.5(MED13L):c.6068-17del
NM_015335.5(MED13L):c.6108C>T (p.Asp2036=)
NM_015335.5(MED13L):c.611C>T (p.Pro204Leu)
NM_015335.5(MED13L):c.6138C>T (p.Asn2046=)
NM_015335.5(MED13L):c.6139C>G (p.Leu2047Val)
NM_015335.5(MED13L):c.6156C>T (p.Asn2052=)
NM_015335.5(MED13L):c.6189T>A (p.Ser2063=)
NM_015335.5(MED13L):c.6239dup (p.Leu2081fs)
NM_015335.5(MED13L):c.6245T>A (p.Leu2082His) rs2137203239
NM_015335.5(MED13L):c.625+15T>G
NM_015335.5(MED13L):c.625+16C>G
NM_015335.5(MED13L):c.625+8T>G
NM_015335.5(MED13L):c.626-12T>C
NM_015335.5(MED13L):c.626-13C>T
NM_015335.5(MED13L):c.6279G>A (p.Gln2093=)
NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser)
NM_015335.5(MED13L):c.6301G>A (p.Val2101Ile)
NM_015335.5(MED13L):c.6303A>G (p.Val2101=)
NM_015335.5(MED13L):c.6311C>T (p.Ala2104Val) rs1177608611
NM_015335.5(MED13L):c.6329C>T (p.Pro2110Leu)
NM_015335.5(MED13L):c.6387+11_6387+12insCTTAAAGGTTG
NM_015335.5(MED13L):c.6387+20A>G
NM_015335.5(MED13L):c.6387+4G>C
NM_015335.5(MED13L):c.6387+8del
NM_015335.5(MED13L):c.6388-13G>A
NM_015335.5(MED13L):c.6388-21CT[2]
NM_015335.5(MED13L):c.6388-4C>T
NM_015335.5(MED13L):c.6388-7dup rs753004245
NM_015335.5(MED13L):c.641A>G (p.Tyr214Cys)
NM_015335.5(MED13L):c.6435G>T (p.Leu2145=)
NM_015335.5(MED13L):c.6441C>G (p.Ala2147=)
NM_015335.5(MED13L):c.6454C>T (p.Arg2152Trp)
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015335.5(MED13L):c.6500+18C>T
NM_015335.5(MED13L):c.6501-18G>C
NM_015335.5(MED13L):c.6501-9C>G rs2137182384
NM_015335.5(MED13L):c.6540G>A (p.Thr2180=) rs371240974
NM_015335.5(MED13L):c.6562C>T (p.Arg2188Cys)
NM_015335.5(MED13L):c.6569C>G (p.Ser2190Cys)
NM_015335.5(MED13L):c.6570dup (p.Cys2191fs) rs1592888491
NM_015335.5(MED13L):c.6579C>T (p.Pro2193=)
NM_015335.5(MED13L):c.6582C>T (p.Val2194=)
NM_015335.5(MED13L):c.672A>G (p.Ala224=)
NM_015335.5(MED13L):c.681_682delinsTG (p.Met227_Ser228delinsIleAla)
NM_015335.5(MED13L):c.698G>T (p.Arg233Leu)
NM_015335.5(MED13L):c.70C>T (p.Leu24=)
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)
NM_015335.5(MED13L):c.73-10_73-9dup rs765651929
NM_015335.5(MED13L):c.73-19A>T
NM_015335.5(MED13L):c.732G>A (p.Pro244=)
NM_015335.5(MED13L):c.732G>C (p.Pro244=)
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015335.5(MED13L):c.758C>T (p.Ser253Leu)
NM_015335.5(MED13L):c.780A>G (p.Gly260=)
NM_015335.5(MED13L):c.785A>G (p.Asp262Gly)
NM_015335.5(MED13L):c.789T>C (p.Asp263=)
NM_015335.5(MED13L):c.7G>A (p.Ala3Thr)
NM_015335.5(MED13L):c.813A>G (p.Val271=)
NM_015335.5(MED13L):c.829C>G (p.Arg277Gly)
NM_015335.5(MED13L):c.83C>T (p.Thr28Met)
NM_015335.5(MED13L):c.867G>C (p.Gln289His)
NM_015335.5(MED13L):c.942T>C (p.Ser314=)
NM_015335.5(MED13L):c.979C>T (p.Pro327Ser)
NM_015335.5(MED13L):c.987C>G (p.Thr329=)
NM_015335.5(MED13L):c.993A>G (p.Pro331=) rs780190117

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