ClinVar Miner

List of variants in gene MED13L reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 572
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.1904G>A (p.Ser635Asn) rs144457722 0.00141
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile) rs142907547 0.00029
NM_015335.5(MED13L):c.5732-3C>T rs370245982 0.00024
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663 0.00020
NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser) rs201987892 0.00015
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.5413A>G (p.Ile1805Val) rs369034017 0.00009
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.1185A>C (p.Gln395His) rs374884525 0.00005
NM_015335.5(MED13L):c.1551A>C (p.Leu517Phe) rs765566328 0.00005
NM_015335.5(MED13L):c.3934+3A>G rs747852225 0.00005
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg) rs1210016465 0.00004
NM_015335.5(MED13L):c.5902A>G (p.Met1968Val) rs773154606 0.00004
NM_015335.5(MED13L):c.697C>T (p.Arg233Cys) rs766642871 0.00004
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.359C>T (p.Thr120Met) rs765903997 0.00003
NM_015335.5(MED13L):c.4166A>G (p.Tyr1389Cys) rs765745700 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.1073C>T (p.Thr358Met) rs139163900 0.00002
NM_015335.5(MED13L):c.1136G>A (p.Arg379Gln) rs758022508 0.00002
NM_015335.5(MED13L):c.1724C>T (p.Ser575Leu) rs377144746 0.00002
NM_015335.5(MED13L):c.1943C>G (p.Pro648Arg) rs1322326599 0.00002
NM_015335.5(MED13L):c.2197T>A (p.Cys733Ser) rs150711606 0.00002
NM_015335.5(MED13L):c.2509G>T (p.Val837Phe) rs1878842526 0.00002
NM_015335.5(MED13L):c.2929G>A (p.Ala977Thr) rs753702133 0.00002
NM_015335.5(MED13L):c.3644C>G (p.Thr1215Ser) rs763041697 0.00002
NM_015335.5(MED13L):c.4265T>C (p.Val1422Ala) rs780657499 0.00002
NM_015335.5(MED13L):c.5471A>G (p.Asn1824Ser) rs763491465 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.5986A>G (p.Ile1996Val) rs1272594944 0.00002
NM_015335.5(MED13L):c.6548C>T (p.Pro2183Leu) rs151124575 0.00002
NM_015335.5(MED13L):c.79C>T (p.Leu27Phe) rs1379524685 0.00002
NM_015335.5(MED13L):c.1029G>C (p.Gln343His) rs749587320 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.1169A>T (p.Gln390Leu) rs1213206833 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.1508C>T (p.Thr503Ile) rs1164114098 0.00001
NM_015335.5(MED13L):c.1525G>A (p.Gly509Arg) rs1427629915 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.1717C>A (p.Pro573Thr) rs368307140 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.1859G>A (p.Gly620Glu) rs780566155 0.00001
NM_015335.5(MED13L):c.1897T>G (p.Trp633Gly) rs1879194923 0.00001
NM_015335.5(MED13L):c.1967G>A (p.Cys656Tyr) rs577727855 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.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.2117G>A (p.Gly706Glu) rs200257416 0.00001
NM_015335.5(MED13L):c.2122A>G (p.Ser708Gly) rs762231074 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.2330C>G (p.Ser777Cys) rs1879044151 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.2598C>T (p.Pro866=) rs776039984 0.00001
NM_015335.5(MED13L):c.2704A>G (p.Met902Val) rs1468213991 0.00001
NM_015335.5(MED13L):c.2791-3C>T rs768223325 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.2918G>A (p.Arg973Gln) rs1280691679 0.00001
NM_015335.5(MED13L):c.2952A>G (p.Gln984=) rs1592929406 0.00001
NM_015335.5(MED13L):c.2965C>G (p.Pro989Ala) rs751953837 0.00001
NM_015335.5(MED13L):c.3134G>A (p.Arg1045His) rs1165240255 0.00001
NM_015335.5(MED13L):c.3155G>A (p.Arg1052Gln) rs977444793 0.00001
NM_015335.5(MED13L):c.3268C>T (p.Arg1090Trp) rs762410081 0.00001
NM_015335.5(MED13L):c.3292G>A (p.Ala1098Thr) rs149578923 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.3606G>A (p.Met1202Ile) rs752751372 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.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+2T>A rs1393295692 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.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.4373A>G (p.Lys1458Arg) rs776268079 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.4576C>A (p.Pro1526Thr) rs752521430 0.00001
NM_015335.5(MED13L):c.4622C>T (p.Thr1541Met) rs773553862 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.4859G>A (p.Gly1620Asp) rs775899433 0.00001
NM_015335.5(MED13L):c.4873A>G (p.Arg1625Gly) rs769363083 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.4957G>A (p.Val1653Ile) rs151181388 0.00001
NM_015335.5(MED13L):c.4988C>T (p.Thr1663Met) rs142102185 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.5294A>G (p.Gln1765Arg) rs369933421 0.00001
NM_015335.5(MED13L):c.5462A>G (p.Gln1821Arg) rs1876884436 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.5831C>T (p.Ser1944Phe) rs771909088 0.00001
NM_015335.5(MED13L):c.583G>A (p.Glu195Lys) rs374748495 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.6068A>G (p.Asp2023Gly) rs121918333 0.00001
NM_015335.5(MED13L):c.6184C>T (p.Pro2062Ser) rs1413572367 0.00001
NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu) rs774432060 0.00001
NM_015335.5(MED13L):c.6392C>T (p.Ser2131Leu) rs1875915792 0.00001
NM_015335.5(MED13L):c.6454C>T (p.Arg2152Trp) rs755044661 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.878C>T (p.Pro293Leu) rs537593859 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(chr12:116314744-116499832)x3
GRCh37/hg19 12q24.21(chr12:116318205-116408746)x3
GRCh37/hg19 12q24.21(chr12:116326288-116417238)x3
GRCh37/hg19 12q24.21(chr12:116327565-116409453)x3
GRCh37/hg19 12q24.21(chr12:116399137-116714901)x3
GRCh37/hg19 12q24.21(chr12:116414991-116639877)x3
GRCh37/hg19 12q24.21(chr12:116417092-116698142)x3
GRCh37/hg19 12q24.21(chr12:116463228-116535323)
NC_000012.11:g.(?_116534454)_(116534577_?)del
NC_000012.12:g.115970663_115970665delinsTAC rs1555241160
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.1009+5G>C rs1879910076
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp) rs2499932052
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.10G>A (p.Ala4Thr) rs1424018799
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.1175+20T>C rs1879642923
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.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.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.1286A>G (p.Lys429Arg) rs2499914095
NM_015335.5(MED13L):c.128G>C (p.Cys43Ser)
NM_015335.5(MED13L):c.1300_1302del (p.Cys434del) rs746994172
NM_015335.5(MED13L):c.1307T>C (p.Val436Ala)
NM_015335.5(MED13L):c.1338A>C (p.Gln446His) rs753979653
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.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.1406C>T (p.Thr469Ile) rs1879225668
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.148C>T (p.Pro50Ser)
NM_015335.5(MED13L):c.14C>G (p.Ala5Gly)
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.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.1691G>A (p.Arg564Gln)
NM_015335.5(MED13L):c.1745T>C (p.Leu582Pro) rs2499912113
NM_015335.5(MED13L):c.1759C>G (p.Leu587Val) rs2499912060
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>T (p.Ala616Val)
NM_015335.5(MED13L):c.1861A>G (p.Ile621Val) rs1166072333
NM_015335.5(MED13L):c.190C>G (p.Leu64Val) rs2500017004
NM_015335.5(MED13L):c.1928A>G (p.Asp643Gly) rs1344076513
NM_015335.5(MED13L):c.1946C>T (p.Pro649Leu)
NM_015335.5(MED13L):c.1952T>G (p.Leu651Arg) rs2499911055
NM_015335.5(MED13L):c.1973C>T (p.Ala658Val) rs1370758314
NM_015335.5(MED13L):c.1991C>T (p.Ser664Leu)
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.2013A>T (p.Arg671Ser)
NM_015335.5(MED13L):c.2027C>T (p.Pro676Leu)
NM_015335.5(MED13L):c.2061G>T (p.Gln687His) rs770538291
NM_015335.5(MED13L):c.2077C>A (p.Leu693Ile)
NM_015335.5(MED13L):c.2081A>G (p.His694Arg) rs2499906418
NM_015335.5(MED13L):c.2114C>G (p.Pro705Arg) rs2137378723
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.2227A>C (p.Lys743Gln) rs2499905849
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.2311G>A (p.Ala771Thr) rs2499901460
NM_015335.5(MED13L):c.2318C>T (p.Ser773Phe) rs2499901394
NM_015335.5(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
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.2470-17A>G
NM_015335.5(MED13L):c.2470-5C>G rs1162894958
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.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.2558C>T (p.Pro853Leu) rs1878839436
NM_015335.5(MED13L):c.2569+8G>A
NM_015335.5(MED13L):c.2570-1G>T rs2137331044
NM_015335.5(MED13L):c.2570-2A>G
NM_015335.5(MED13L):c.2572G>T (p.Val858Phe)
NM_015335.5(MED13L):c.2581T>G (p.Leu861Val) rs1592930332
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.2606C>T (p.Pro869Leu) rs1878458116
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.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.2713A>C (p.Met905Leu) rs2499875034
NM_015335.5(MED13L):c.2776C>A (p.Pro926Thr) rs947804085
NM_015335.5(MED13L):c.2779G>A (p.Glu927Lys)
NM_015335.5(MED13L):c.278A>C (p.Asn93Thr)
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.2847G>A (p.Met949Ile) rs2499872967
NM_015335.5(MED13L):c.2854C>T (p.Pro952Ser) rs2499872942
NM_015335.5(MED13L):c.2908T>C (p.Cys970Arg) rs771745124
NM_015335.5(MED13L):c.2920C>T (p.Pro974Ser) rs2137328362
NM_015335.5(MED13L):c.2944A>T (p.Ile982Phe) rs2137328252
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.2996A>G (p.Asn999Ser) rs1420950414
NM_015335.5(MED13L):c.2996A>T (p.Asn999Ile) rs1420950414
NM_015335.5(MED13L):c.2997-2A>G rs1198136487
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.3046C>T (p.Pro1016Ser)
NM_015335.5(MED13L):c.3128C>A (p.Thr1043Asn)
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.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.3257C>A (p.Pro1086His)
NM_015335.5(MED13L):c.3269G>T (p.Arg1090Leu) rs888549047
NM_015335.5(MED13L):c.3278A>G (p.Asn1093Ser)
NM_015335.5(MED13L):c.3295A>G (p.Thr1099Ala) rs1270331554
NM_015335.5(MED13L):c.3322A>G (p.Ser1108Gly)
NM_015335.5(MED13L):c.3343C>A (p.Leu1115Ile) rs1473984872
NM_015335.5(MED13L):c.3376_3381del (p.Arg1126_Asn1127del) rs2499856930
NM_015335.5(MED13L):c.3401G>A (p.Cys1134Tyr)
NM_015335.5(MED13L):c.3428C>T (p.Ala1143Val) rs763939921
NM_015335.5(MED13L):c.3451G>A (p.Asp1151Asn) rs2499856682
NM_015335.5(MED13L):c.3461A>G (p.Asn1154Ser) rs867320311
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.3503T>C (p.Met1168Thr) rs2499856539
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.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.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.3689A>G (p.Gln1230Arg) rs1878042874
NM_015335.5(MED13L):c.3700A>G (p.Thr1234Ala) rs140989788
NM_015335.5(MED13L):c.3718C>G (p.Leu1240Val) rs777146447
NM_015335.5(MED13L):c.3757A>G (p.Thr1253Ala)
NM_015335.5(MED13L):c.3787C>T (p.Arg1263Trp) rs761966368
NM_015335.5(MED13L):c.3790G>A (p.Val1264Met)
NM_015335.5(MED13L):c.3797C>T (p.Ala1266Val)
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.3886G>A (p.Glu1296Lys)
NM_015335.5(MED13L):c.3895G>A (p.Val1299Met) rs1565996916
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr) rs1231044656
NM_015335.5(MED13L):c.3920G>C (p.Trp1307Ser) rs2499854489
NM_015335.5(MED13L):c.3929G>A (p.Ser1310Asn) rs772703700
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.3938T>G (p.Leu1313Arg) rs759773785
NM_015335.5(MED13L):c.3943A>T (p.Ile1315Phe)
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.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.404T>C (p.Met135Thr) rs752482619
NM_015335.5(MED13L):c.409A>G (p.Lys137Glu)
NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala) rs1877746863
NM_015335.5(MED13L):c.4147C>T (p.Pro1383Ser) rs2499839734
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.4224G>T (p.Leu1408Phe) rs1565994535
NM_015335.5(MED13L):c.4230C>A (p.Asp1410Glu) rs2137287044
NM_015335.5(MED13L):c.4235A>G (p.Tyr1412Cys) rs1190857852
NM_015335.5(MED13L):c.4259A>G (p.Tyr1420Cys) rs2137286817
NM_015335.5(MED13L):c.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.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.4397G>T (p.Arg1466Leu)
NM_015335.5(MED13L):c.4414G>A (p.Ala1472Thr) rs749844719
NM_015335.5(MED13L):c.4427C>T (p.Thr1476Ile) rs1877534984
NM_015335.5(MED13L):c.443G>A (p.Arg148Gln) rs1461395322
NM_015335.5(MED13L):c.443G>C (p.Arg148Pro)
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.4532-13T>G rs1284749965
NM_015335.5(MED13L):c.4537T>C (p.Tyr1513His) rs926542891
NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala) rs752521430
NM_015335.5(MED13L):c.4585T>C (p.Tyr1529His)
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.4639C>A (p.Pro1547Thr) rs1877474653
NM_015335.5(MED13L):c.4639C>T (p.Pro1547Ser) rs1877474653
NM_015335.5(MED13L):c.4643T>C (p.Leu1548Ser)
NM_015335.5(MED13L):c.4694C>T (p.Thr1565Ile) rs2499827148
NM_015335.5(MED13L):c.4700A>G (p.Asn1567Ser) rs2499827105
NM_015335.5(MED13L):c.4708T>A (p.Ser1570Thr)
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.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.4774T>C (p.Ser1592Pro) rs2499826735
NM_015335.5(MED13L):c.4784G>A (p.Gly1595Asp) rs2499826701
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.47A>G (p.Asp16Gly) rs2500191290
NM_015335.5(MED13L):c.4805C>T (p.Thr1602Ile)
NM_015335.5(MED13L):c.4817G>A (p.Gly1606Glu) rs938023282
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.4867G>T (p.Ala1623Ser) rs1877454199
NM_015335.5(MED13L):c.4886A>G (p.Asn1629Ser) rs2499826213
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.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.4956-3C>T rs2499823373
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.5024C>T (p.Pro1675Leu) rs748488755
NM_015335.5(MED13L):c.5029G>T (p.Val1677Phe) rs1877399404
NM_015335.5(MED13L):c.5051C>T (p.Pro1684Leu) rs907555134
NM_015335.5(MED13L):c.5057C>T (p.Thr1686Met) rs1877397719
NM_015335.5(MED13L):c.5073G>C (p.Glu1691Asp)
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.5149C>T (p.His1717Tyr)
NM_015335.5(MED13L):c.5175+10T>G rs540492867
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.5246C>G (p.Ser1749Cys)
NM_015335.5(MED13L):c.5248A>C (p.Met1750Leu) rs2499816606
NM_015335.5(MED13L):c.5273G>C (p.Cys1758Ser)
NM_015335.5(MED13L):c.5281C>G (p.Pro1761Ala)
NM_015335.5(MED13L):c.5282C>A (p.Pro1761Gln) rs1877277272
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.5315C>T (p.Thr1772Met) rs2137264380
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.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.5459_5460delinsTA (p.Ser1820Ile) rs2137243699
NM_015335.5(MED13L):c.5482G>A (p.Val1828Met)
NM_015335.5(MED13L):c.5489A>G (p.Tyr1830Cys) rs2499798795
NM_015335.5(MED13L):c.5502C>G (p.His1834Gln) rs200440551
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.5554G>C (p.Glu1852Gln)
NM_015335.5(MED13L):c.5581C>G (p.Pro1861Ala)
NM_015335.5(MED13L):c.5586C>G (p.Asn1862Lys)
NM_015335.5(MED13L):c.5603A>G (p.Lys1868Arg) rs565360797
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.5631G>T (p.Gln1877His) rs1555241858
NM_015335.5(MED13L):c.5651T>C (p.Ile1884Thr) rs2499797173
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.5707C>A (p.Arg1903Ser)
NM_015335.5(MED13L):c.5707C>T (p.Arg1903Cys)
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.5737A>T (p.Ser1913Cys) rs919712205
NM_015335.5(MED13L):c.5755T>G (p.Cys1919Gly)
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.5818G>A (p.Ala1940Thr)
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.5870G>T (p.Gly1957Val)
NM_015335.5(MED13L):c.5904G>A (p.Met1968Ile) rs2137223825
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.5943G>C (p.Gln1981His) rs1245093318
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.5972C>T (p.Ala1991Val) rs2499969730
NM_015335.5(MED13L):c.5978G>A (p.Cys1993Tyr) rs2137223521
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.601C>G (p.Gln201Glu) rs1029377279
NM_015335.5(MED13L):c.6041A>G (p.Asn2014Ser)
NM_015335.5(MED13L):c.6067+5G>A rs2499969479
NM_015335.5(MED13L):c.6079G>T (p.Val2027Phe) rs1876393490
NM_015335.5(MED13L):c.6104T>C (p.Met2035Thr)
NM_015335.5(MED13L):c.610C>G (p.Pro204Ala) rs1472219916
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.6179G>C (p.Gly2060Ala)
NM_015335.5(MED13L):c.6200T>C (p.Val2067Ala)
NM_015335.5(MED13L):c.6228C>A (p.Ser2076Arg) rs2137203328
NM_015335.5(MED13L):c.6239G>A (p.Arg2080His)
NM_015335.5(MED13L):c.6245T>A (p.Leu2082His) rs2137203239
NM_015335.5(MED13L):c.6263A>C (p.Glu2088Ala)
NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu) rs1876147349
NM_015335.5(MED13L):c.6301G>A (p.Val2101Ile) rs747734369
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.6350G>T (p.Cys2117Phe)
NM_015335.5(MED13L):c.6356A>G (p.Gln2119Arg) rs1565982593
NM_015335.5(MED13L):c.6368A>G (p.Gln2123Arg) rs1876139296
NM_015335.5(MED13L):c.6380T>A (p.Phe2127Tyr)
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.6428A>G (p.Glu2143Gly)
NM_015335.5(MED13L):c.6444G>C (p.Arg2148Ser)
NM_015335.5(MED13L):c.6446A>G (p.Asn2149Ser)
NM_015335.5(MED13L):c.6527T>C (p.Leu2176Pro)
NM_015335.5(MED13L):c.6539C>T (p.Thr2180Met) rs1875744082
NM_015335.5(MED13L):c.6554C>A (p.Thr2185Asn) rs1875742513
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.6584A>G (p.His2195Arg)
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.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.698G>T (p.Arg233Leu) rs757472716
NM_015335.5(MED13L):c.727T>C (p.Tyr243His) rs2499945923
NM_015335.5(MED13L):c.735G>T (p.Met245Ile) rs2499945894
NM_015335.5(MED13L):c.747G>T (p.Lys249Asn) rs921393421
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly) rs28940309
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.829C>G (p.Arg277Gly) rs1879920345
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.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.92A>G (p.Lys31Arg) rs372265285
NM_015335.5(MED13L):c.941G>T (p.Ser314Ile) rs970819884
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.986C>T (p.Thr329Ile) rs769022047
NM_015335.5(MED13L):c.993A>G (p.Pro331=) rs780190117

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