NM_015335.5(MED13L):c.1904G>A (p.Ser635Asn)
|
rs144457722
|
0.00141
|
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile)
|
rs142907547
|
0.00035
|
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.3517G>A (p.Gly1173Ser)
|
rs201987892
|
0.00016
|
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu)
|
rs537593859
|
0.00015
|
NM_015335.5(MED13L):c.1970A>T (p.Asp657Val)
|
rs775442091
|
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.3788G>A (p.Arg1263Gln)
|
rs374506267
|
0.00006
|
NM_015335.5(MED13L):c.1185A>C (p.Gln395His)
|
rs374884525
|
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.697C>T (p.Arg233Cys)
|
rs766642871
|
0.00004
|
NM_015335.5(MED13L):c.1855T>G (p.Cys619Gly)
|
rs1345208839
|
0.00003
|
NM_015335.5(MED13L):c.4261A>G (p.Ile1421Val)
|
rs747089502
|
0.00003
|
NM_015335.5(MED13L):c.1943C>G (p.Pro648Arg)
|
rs1322326599
|
0.00002
|
NM_015335.5(MED13L):c.5471A>G (p.Asn1824Ser)
|
rs763491465
|
0.00002
|
NM_015335.5(MED13L):c.1029G>C (p.Gln343His)
|
rs749587320
|
0.00001
|
NM_015335.5(MED13L):c.1261G>A (p.Val421Ile)
|
rs935188053
|
0.00001
|
NM_015335.5(MED13L):c.1309G>A (p.Gly437Arg)
|
rs1478066317
|
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.1717C>A (p.Pro573Thr)
|
rs368307140
|
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.2330C>G (p.Ser777Cys)
|
rs1879044151
|
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.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.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.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.4114+2T>A
|
rs1393295692
|
0.00001
|
NM_015335.5(MED13L):c.4115-7A>T
|
rs1054976642
|
0.00001
|
NM_015335.5(MED13L):c.4265T>C (p.Val1422Ala)
|
rs780657499
|
0.00001
|
NM_015335.5(MED13L):c.4294G>A (p.Glu1432Lys)
|
rs758950766
|
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.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.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.5294A>G (p.Gln1765Arg)
|
rs369933421
|
0.00001
|
NM_015335.5(MED13L):c.5462A>G (p.Gln1821Arg)
|
rs1876884436
|
0.00001
|
NM_015335.5(MED13L):c.5510G>A (p.Arg1837His)
|
rs565032784
|
0.00001
|
NM_015335.5(MED13L):c.5615G>A (p.Arg1872His)
|
rs28940310
|
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.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
|
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
|
|
|
NM_015335.4(MED13L):c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr)
|
rs1555241160
|
|
NM_015335.5(MED13L):c.-9dup
|
rs2138617119
|
|
NM_015335.5(MED13L):c.1003A>G (p.Ile335Val)
|
|
|
NM_015335.5(MED13L):c.1009+5G>C
|
rs1879910076
|
|
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp)
|
|
|
NM_015335.5(MED13L):c.1036G>C (p.Ala346Pro)
|
|
|
NM_015335.5(MED13L):c.1042C>T (p.His348Tyr)
|
|
|
NM_015335.5(MED13L):c.1067T>G (p.Met356Arg)
|
|
|
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.1136G>A (p.Arg379Gln)
|
|
|
NM_015335.5(MED13L):c.1141T>C (p.Trp381Arg)
|
|
|
NM_015335.5(MED13L):c.1169A>T (p.Gln390Leu)
|
|
|
NM_015335.5(MED13L):c.1175+20T>C
|
rs1879642923
|
|
NM_015335.5(MED13L):c.1195C>T (p.Pro399Ser)
|
rs1879500574
|
|
NM_015335.5(MED13L):c.119A>G (p.His40Arg)
|
|
|
NM_015335.5(MED13L):c.1226C>T (p.Pro409Leu)
|
|
|
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)
|
|
|
NM_015335.5(MED13L):c.1271C>A (p.Ser424Tyr)
|
|
|
NM_015335.5(MED13L):c.1274G>C (p.Cys425Ser)
|
|
|
NM_015335.5(MED13L):c.1280G>A (p.Arg427Lys)
|
|
|
NM_015335.5(MED13L):c.1286A>G (p.Lys429Arg)
|
|
|
NM_015335.5(MED13L):c.1298G>A (p.Arg433His)
|
|
|
NM_015335.5(MED13L):c.1300_1302del (p.Cys434del)
|
|
|
NM_015335.5(MED13L):c.1338A>C (p.Gln446His)
|
|
|
NM_015335.5(MED13L):c.134C>G (p.Pro45Arg)
|
|
|
NM_015335.5(MED13L):c.1355G>C (p.Gly452Ala)
|
|
|
NM_015335.5(MED13L):c.1388C>A (p.Ala463Asp)
|
rs2137386497
|
|
NM_015335.5(MED13L):c.1390TCT[1] (p.Ser465del)
|
|
|
NM_015335.5(MED13L):c.1396A>C (p.Lys466Gln)
|
|
|
NM_015335.5(MED13L):c.1406C>T (p.Thr469Ile)
|
|
|
NM_015335.5(MED13L):c.1423A>G (p.Lys475Glu)
|
rs1879225158
|
|
NM_015335.5(MED13L):c.1444A>G (p.Arg482Gly)
|
|
|
NM_015335.5(MED13L):c.1448C>T (p.Pro483Leu)
|
rs2137386182
|
|
NM_015335.5(MED13L):c.145G>A (p.Ala49Thr)
|
|
|
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.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.1656A>G (p.Ile552Met)
|
rs746110094
|
|
NM_015335.5(MED13L):c.1658C>A (p.Ser553Tyr)
|
|
|
NM_015335.5(MED13L):c.1724C>T (p.Ser575Leu)
|
rs377144746
|
|
NM_015335.5(MED13L):c.1745T>C (p.Leu582Pro)
|
|
|
NM_015335.5(MED13L):c.1759C>G (p.Leu587Val)
|
|
|
NM_015335.5(MED13L):c.1804G>A (p.Val602Ile)
|
|
|
NM_015335.5(MED13L):c.1814G>A (p.Arg605Lys)
|
|
|
NM_015335.5(MED13L):c.1823T>C (p.Leu608Pro)
|
|
|
NM_015335.5(MED13L):c.1828G>T (p.Ala610Ser)
|
|
|
NM_015335.5(MED13L):c.1840G>A (p.Glu614Lys)
|
|
|
NM_015335.5(MED13L):c.1861A>G (p.Ile621Val)
|
|
|
NM_015335.5(MED13L):c.1897T>G (p.Trp633Gly)
|
|
|
NM_015335.5(MED13L):c.1928A>G (p.Asp643Gly)
|
rs1344076513
|
|
NM_015335.5(MED13L):c.1952T>G (p.Leu651Arg)
|
|
|
NM_015335.5(MED13L):c.1967G>A (p.Cys656Tyr)
|
|
|
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.199A>G (p.Asn67Asp)
|
|
|
NM_015335.5(MED13L):c.2013-1G>T
|
|
|
NM_015335.5(MED13L):c.2014C>T (p.Leu672Phe)
|
rs753868437
|
|
NM_015335.5(MED13L):c.2061G>T (p.Gln687His)
|
rs770538291
|
|
NM_015335.5(MED13L):c.2081A>G (p.His694Arg)
|
|
|
NM_015335.5(MED13L):c.2114C>G (p.Pro705Arg)
|
rs2137378723
|
|
NM_015335.5(MED13L):c.217C>T (p.Arg73Cys)
|
|
|
NM_015335.5(MED13L):c.2183C>T (p.Thr728Ile)
|
|
|
NM_015335.5(MED13L):c.2189A>G (p.Asn730Ser)
|
rs2137378538
|
|
NM_015335.5(MED13L):c.2197T>A (p.Cys733Ser)
|
|
|
NM_015335.5(MED13L):c.2227A>C (p.Lys743Gln)
|
|
|
NM_015335.5(MED13L):c.2239-3_2239-2del
|
|
|
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu)
|
rs368050346
|
|
NM_015335.5(MED13L):c.2255G>C (p.Gly752Ala)
|
|
|
NM_015335.5(MED13L):c.227T>C (p.Val76Ala)
|
|
|
NM_015335.5(MED13L):c.2282A>G (p.His761Arg)
|
|
|
NM_015335.5(MED13L):c.2288C>T (p.Thr763Met)
|
|
|
NM_015335.5(MED13L):c.2311G>A (p.Ala771Thr)
|
|
|
NM_015335.5(MED13L):c.2318C>T (p.Ser773Phe)
|
|
|
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>T (p.Ala788Val)
|
rs1299165203
|
|
NM_015335.5(MED13L):c.2375C>G (p.Ala792Gly)
|
|
|
NM_015335.5(MED13L):c.2470-5C>G
|
rs1162894958
|
|
NM_015335.5(MED13L):c.2479C>T (p.Pro827Ser)
|
|
|
NM_015335.5(MED13L):c.2483C>T (p.Ala828Val)
|
|
|
NM_015335.5(MED13L):c.2509G>T (p.Val837Phe)
|
|
|
NM_015335.5(MED13L):c.2530C>T (p.Leu844Phe)
|
|
|
NM_015335.5(MED13L):c.2539G>A (p.Asp847Asn)
|
|
|
NM_015335.5(MED13L):c.2558C>T (p.Pro853Leu)
|
|
|
NM_015335.5(MED13L):c.2570-1G>T
|
rs2137331044
|
|
NM_015335.5(MED13L):c.2581T>G (p.Leu861Val)
|
|
|
NM_015335.5(MED13L):c.2585A>C (p.Gln862Pro)
|
|
|
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu)
|
rs886039599
|
|
NM_015335.5(MED13L):c.2598C>T (p.Pro866=)
|
|
|
NM_015335.5(MED13L):c.2635C>A (p.Pro879Thr)
|
|
|
NM_015335.5(MED13L):c.2635C>G (p.Pro879Ala)
|
rs2137330781
|
|
NM_015335.5(MED13L):c.2662A>G (p.Ser888Gly)
|
|
|
NM_015335.5(MED13L):c.2674G>C (p.Val892Leu)
|
|
|
NM_015335.5(MED13L):c.269A>G (p.Asp90Gly)
|
rs2138459001
|
|
NM_015335.5(MED13L):c.26C>T (p.Ala9Val)
|
|
|
NM_015335.5(MED13L):c.2713A>C (p.Met905Leu)
|
|
|
NM_015335.5(MED13L):c.2776C>A (p.Pro926Thr)
|
|
|
NM_015335.5(MED13L):c.277A>G (p.Asn93Asp)
|
|
|
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.2832T>A (p.Phe944Leu)
|
rs764385703
|
|
NM_015335.5(MED13L):c.2847G>A (p.Met949Ile)
|
|
|
NM_015335.5(MED13L):c.2854C>T (p.Pro952Ser)
|
|
|
NM_015335.5(MED13L):c.2908T>C (p.Cys970Arg)
|
|
|
NM_015335.5(MED13L):c.2918G>A (p.Arg973Gln)
|
|
|
NM_015335.5(MED13L):c.2920C>T (p.Pro974Ser)
|
rs2137328362
|
|
NM_015335.5(MED13L):c.2929G>A (p.Ala977Thr)
|
|
|
NM_015335.5(MED13L):c.2944A>T (p.Ile982Phe)
|
rs2137328252
|
|
NM_015335.5(MED13L):c.2952A>G (p.Gln984=)
|
|
|
NM_015335.5(MED13L):c.2965C>G (p.Pro989Ala)
|
|
|
NM_015335.5(MED13L):c.2983A>G (p.Arg995Gly)
|
|
|
NM_015335.5(MED13L):c.2996A>G (p.Asn999Ser)
|
|
|
NM_015335.5(MED13L):c.2996A>T (p.Asn999Ile)
|
|
|
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.3173G>A (p.Arg1058Lys)
|
|
|
NM_015335.5(MED13L):c.3187G>T (p.Gly1063Trp)
|
rs2137307892
|
|
NM_015335.5(MED13L):c.3229A>G (p.Thr1077Ala)
|
|
|
NM_015335.5(MED13L):c.3269G>T (p.Arg1090Leu)
|
|
|
NM_015335.5(MED13L):c.3292G>A (p.Ala1098Thr)
|
|
|
NM_015335.5(MED13L):c.3295A>G (p.Thr1099Ala)
|
|
|
NM_015335.5(MED13L):c.3343C>A (p.Leu1115Ile)
|
|
|
NM_015335.5(MED13L):c.3376_3381del (p.Arg1126_Asn1127del)
|
|
|
NM_015335.5(MED13L):c.3428C>T (p.Ala1143Val)
|
rs763939921
|
|
NM_015335.5(MED13L):c.3451G>A (p.Asp1151Asn)
|
|
|
NM_015335.5(MED13L):c.3461A>G (p.Asn1154Ser)
|
rs867320311
|
|
NM_015335.5(MED13L):c.3476G>A (p.Arg1159His)
|
|
|
NM_015335.5(MED13L):c.3479G>A (p.Cys1160Tyr)
|
rs1565997289
|
|
NM_015335.5(MED13L):c.3503T>C (p.Met1168Thr)
|
|
|
NM_015335.5(MED13L):c.3524A>G (p.Asn1175Ser)
|
|
|
NM_015335.5(MED13L):c.3556A>G (p.Ile1186Val)
|
|
|
NM_015335.5(MED13L):c.3596G>A (p.Arg1199Lys)
|
|
|
NM_015335.5(MED13L):c.359C>T (p.Thr120Met)
|
|
|
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.3689A>G (p.Gln1230Arg)
|
rs1878042874
|
|
NM_015335.5(MED13L):c.3700A>G (p.Thr1234Ala)
|
|
|
NM_015335.5(MED13L):c.3706C>A (p.Pro1236Thr)
|
|
|
NM_015335.5(MED13L):c.3718C>G (p.Leu1240Val)
|
rs777146447
|
|
NM_015335.5(MED13L):c.3787C>T (p.Arg1263Trp)
|
|
|
NM_015335.5(MED13L):c.3806A>G (p.Asn1269Ser)
|
|
|
NM_015335.5(MED13L):c.3828T>A (p.Phe1276Leu)
|
|
|
NM_015335.5(MED13L):c.3833C>T (p.Ala1278Val)
|
|
|
NM_015335.5(MED13L):c.3848G>A (p.Arg1283Gln)
|
|
|
NM_015335.5(MED13L):c.3895G>A (p.Val1299Met)
|
|
|
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr)
|
rs1231044656
|
|
NM_015335.5(MED13L):c.3920G>C (p.Trp1307Ser)
|
|
|
NM_015335.5(MED13L):c.3929G>A (p.Ser1310Asn)
|
|
|
NM_015335.5(MED13L):c.3930C>G (p.Ser1310Arg)
|
|
|
NM_015335.5(MED13L):c.3932A>G (p.Asn1311Ser)
|
|
|
NM_015335.5(MED13L):c.3938T>G (p.Leu1313Arg)
|
rs759773785
|
|
NM_015335.5(MED13L):c.3986C>T (p.Ser1329Phe)
|
|
|
NM_015335.5(MED13L):c.4004A>G (p.Gln1335Arg)
|
|
|
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)
|
|
|
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.4086C>T (p.Phe1362=)
|
|
|
NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala)
|
rs1877746863
|
|
NM_015335.5(MED13L):c.4113C>T (p.Tyr1371=)
|
|
|
NM_015335.5(MED13L):c.4147C>T (p.Pro1383Ser)
|
|
|
NM_015335.5(MED13L):c.4150A>G (p.Thr1384Ala)
|
|
|
NM_015335.5(MED13L):c.4160T>C (p.Val1387Ala)
|
|
|
NM_015335.5(MED13L):c.4166A>G (p.Tyr1389Cys)
|
|
|
NM_015335.5(MED13L):c.4183A>G (p.Thr1395Ala)
|
|
|
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.4247G>A (p.Arg1416His)
|
|
|
NM_015335.5(MED13L):c.4259A>G (p.Tyr1420Cys)
|
rs2137286817
|
|
NM_015335.5(MED13L):c.4298G>A (p.Gly1433Glu)
|
rs2137286575
|
|
NM_015335.5(MED13L):c.4300G>A (p.Ala1434Thr)
|
rs1363042572
|
|
NM_015335.5(MED13L):c.4319A>G (p.Asp1440Gly)
|
|
|
NM_015335.5(MED13L):c.4328C>A (p.Ala1443Asp)
|
|
|
NM_015335.5(MED13L):c.4342T>G (p.Cys1448Gly)
|
|
|
NM_015335.5(MED13L):c.4373A>G (p.Lys1458Arg)
|
|
|
NM_015335.5(MED13L):c.4379T>C (p.Leu1460Pro)
|
|
|
NM_015335.5(MED13L):c.437T>A (p.Phe146Tyr)
|
|
|
NM_015335.5(MED13L):c.4386C>A (p.Asp1462Glu)
|
|
|
NM_015335.5(MED13L):c.4387G>A (p.Gly1463Arg)
|
rs1555243607
|
|
NM_015335.5(MED13L):c.4427C>T (p.Thr1476Ile)
|
|
|
NM_015335.5(MED13L):c.443G>A (p.Arg148Gln)
|
rs1461395322
|
|
NM_015335.5(MED13L):c.4490C>A (p.Ser1497Tyr)
|
|
|
NM_015335.5(MED13L):c.4495C>T (p.Leu1499Phe)
|
|
|
NM_015335.5(MED13L):c.4532-13T>G
|
|
|
NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala)
|
rs752521430
|
|
NM_015335.5(MED13L):c.4616A>G (p.Gln1539Arg)
|
|
|
NM_015335.5(MED13L):c.4618G>A (p.Ala1540Thr)
|
rs2137275405
|
|
NM_015335.5(MED13L):c.4621A>C (p.Thr1541Pro)
|
|
|
NM_015335.5(MED13L):c.4622C>T (p.Thr1541Met)
|
|
|
NM_015335.5(MED13L):c.4639C>A (p.Pro1547Thr)
|
|
|
NM_015335.5(MED13L):c.4639C>T (p.Pro1547Ser)
|
|
|
NM_015335.5(MED13L):c.4694C>T (p.Thr1565Ile)
|
|
|
NM_015335.5(MED13L):c.4700A>G (p.Asn1567Ser)
|
|
|
NM_015335.5(MED13L):c.4720G>A (p.Ala1574Thr)
|
|
|
NM_015335.5(MED13L):c.4720GCA[1] (p.Ala1575del)
|
|
|
NM_015335.5(MED13L):c.472A>G (p.Asn158Asp)
|
|
|
NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys)
|
|
|
NM_015335.5(MED13L):c.4745C>A (p.Ser1582Tyr)
|
rs748040838
|
|
NM_015335.5(MED13L):c.4766C>T (p.Ser1589Leu)
|
|
|
NM_015335.5(MED13L):c.4774T>C (p.Ser1592Pro)
|
|
|
NM_015335.5(MED13L):c.4784G>A (p.Gly1595Asp)
|
|
|
NM_015335.5(MED13L):c.4789A>G (p.Ser1597Gly)
|
rs2137274550
|
|
NM_015335.5(MED13L):c.478A>G (p.Ser160Gly)
|
|
|
NM_015335.5(MED13L):c.47A>G (p.Asp16Gly)
|
|
|
NM_015335.5(MED13L):c.4817G>A (p.Gly1606Glu)
|
|
|
NM_015335.5(MED13L):c.481G>A (p.Glu161Lys)
|
|
|
NM_015335.5(MED13L):c.4837G>A (p.Gly1613Arg)
|
|
|
NM_015335.5(MED13L):c.4867G>T (p.Ala1623Ser)
|
|
|
NM_015335.5(MED13L):c.4873A>G (p.Arg1625Gly)
|
|
|
NM_015335.5(MED13L):c.4886A>G (p.Asn1629Ser)
|
|
|
NM_015335.5(MED13L):c.4921A>G (p.Ser1641Gly)
|
|
|
NM_015335.5(MED13L):c.494G>A (p.Cys165Tyr)
|
|
|
NM_015335.5(MED13L):c.4950A>C (p.Gln1650His)
|
|
|
NM_015335.5(MED13L):c.4953G>T (p.Glu1651Asp)
|
|
|
NM_015335.5(MED13L):c.4955+16A>T
|
|
|
NM_015335.5(MED13L):c.4956-3C>T
|
|
|
NM_015335.5(MED13L):c.4957G>A (p.Val1653Ile)
|
|
|
NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn)
|
|
|
NM_015335.5(MED13L):c.5024C>T (p.Pro1675Leu)
|
|
|
NM_015335.5(MED13L):c.5051C>T (p.Pro1684Leu)
|
|
|
NM_015335.5(MED13L):c.5057C>A (p.Thr1686Lys)
|
|
|
NM_015335.5(MED13L):c.5057C>T (p.Thr1686Met)
|
rs1877397719
|
|
NM_015335.5(MED13L):c.5084C>A (p.Ser1695Tyr)
|
rs775457796
|
|
NM_015335.5(MED13L):c.5110A>G (p.Met1704Val)
|
|
|
NM_015335.5(MED13L):c.5119T>C (p.Tyr1707His)
|
rs1877392834
|
|
NM_015335.5(MED13L):c.5175+10T>G
|
|
|
NM_015335.5(MED13L):c.5176A>G (p.Ile1726Val)
|
|
|
NM_015335.5(MED13L):c.5192A>G (p.Tyr1731Cys)
|
|
|
NM_015335.5(MED13L):c.5194A>G (p.Met1732Val)
|
|
|
NM_015335.5(MED13L):c.5215G>A (p.Glu1739Lys)
|
|
|
NM_015335.5(MED13L):c.5219A>T (p.Gln1740Leu)
|
|
|
NM_015335.5(MED13L):c.5233C>G (p.Gln1745Glu)
|
|
|
NM_015335.5(MED13L):c.5234A>G (p.Gln1745Arg)
|
|
|
NM_015335.5(MED13L):c.5282C>A (p.Pro1761Gln)
|
|
|
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)
|
|
|
NM_015335.5(MED13L):c.5346G>A (p.Met1782Ile)
|
|
|
NM_015335.5(MED13L):c.5350C>T (p.Leu1784Phe)
|
rs948548287
|
|
NM_015335.5(MED13L):c.5360C>T (p.Pro1787Leu)
|
|
|
NM_015335.5(MED13L):c.5383C>G (p.Leu1795Val)
|
rs750257495
|
|
NM_015335.5(MED13L):c.5393C>T (p.Pro1798Leu)
|
|
|
NM_015335.5(MED13L):c.539G>C (p.Ser180Thr)
|
|
|
NM_015335.5(MED13L):c.53A>T (p.His18Leu)
|
|
|
NM_015335.5(MED13L):c.5413A>G (p.Ile1805Val)
|
|
|
NM_015335.5(MED13L):c.5459_5460delinsTA (p.Ser1820Ile)
|
rs2137243699
|
|
NM_015335.5(MED13L):c.5470A>G (p.Asn1824Asp)
|
|
|
NM_015335.5(MED13L):c.5489A>G (p.Tyr1830Cys)
|
|
|
NM_015335.5(MED13L):c.5502C>G (p.His1834Gln)
|
|
|
NM_015335.5(MED13L):c.5531C>G (p.Thr1844Ser)
|
|
|
NM_015335.5(MED13L):c.5603A>C (p.Lys1868Thr)
|
|
|
NM_015335.5(MED13L):c.5603A>G (p.Lys1868Arg)
|
|
|
NM_015335.5(MED13L):c.5615G>C (p.Arg1872Pro)
|
|
|
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)
|
|
|
NM_015335.5(MED13L):c.5659G>A (p.Val1887Ile)
|
rs201002721
|
|
NM_015335.5(MED13L):c.565A>C (p.Ile189Leu)
|
|
|
NM_015335.5(MED13L):c.5665A>G (p.Met1889Val)
|
|
|
NM_015335.5(MED13L):c.5687T>A (p.Val1896Asp)
|
|
|
NM_015335.5(MED13L):c.5710C>G (p.Leu1904Val)
|
|
|
NM_015335.5(MED13L):c.5716C>T (p.His1906Tyr)
|
rs1876852244
|
|
NM_015335.5(MED13L):c.5719G>T (p.Gly1907Trp)
|
|
|
NM_015335.5(MED13L):c.5737A>T (p.Ser1913Cys)
|
|
|
NM_015335.5(MED13L):c.5773A>G (p.Ser1925Gly)
|
|
|
NM_015335.5(MED13L):c.578A>G (p.Asn193Ser)
|
|
|
NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp)
|
|
|
NM_015335.5(MED13L):c.5798G>T (p.Arg1933Leu)
|
|
|
NM_015335.5(MED13L):c.5827C>A (p.Pro1943Thr)
|
rs1555241424
|
|
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.5902A>G (p.Met1968Val)
|
|
|
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.5929G>A (p.Ala1977Thr)
|
|
|
NM_015335.5(MED13L):c.5939T>A (p.Met1980Lys)
|
rs1876523724
|
|
NM_015335.5(MED13L):c.5943G>C (p.Gln1981His)
|
|
|
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.5957A>G (p.Asn1986Ser)
|
|
|
NM_015335.5(MED13L):c.5972C>T (p.Ala1991Val)
|
|
|
NM_015335.5(MED13L):c.5978G>A (p.Cys1993Tyr)
|
rs2137223521
|
|
NM_015335.5(MED13L):c.5986A>G (p.Ile1996Val)
|
rs1272594944
|
|
NM_015335.5(MED13L):c.59A>G (p.Asn20Ser)
|
|
|
NM_015335.5(MED13L):c.6010A>G (p.Thr2004Ala)
|
|
|
NM_015335.5(MED13L):c.601C>G (p.Gln201Glu)
|
|
|
NM_015335.5(MED13L):c.6067+5G>A
|
|
|
NM_015335.5(MED13L):c.6079G>T (p.Val2027Phe)
|
rs1876393490
|
|
NM_015335.5(MED13L):c.610C>G (p.Pro204Ala)
|
|
|
NM_015335.5(MED13L):c.6139C>G (p.Leu2047Val)
|
|
|
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.6184C>T (p.Pro2062Ser)
|
|
|
NM_015335.5(MED13L):c.6228C>A (p.Ser2076Arg)
|
rs2137203328
|
|
NM_015335.5(MED13L):c.6245T>A (p.Leu2082His)
|
rs2137203239
|
|
NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu)
|
rs1876147349
|
|
NM_015335.5(MED13L):c.6301G>A (p.Val2101Ile)
|
|
|
NM_015335.5(MED13L):c.6310G>T (p.Ala2104Ser)
|
rs1019178380
|
|
NM_015335.5(MED13L):c.6329C>T (p.Pro2110Leu)
|
|
|
NM_015335.5(MED13L):c.6356A>G (p.Gln2119Arg)
|
|
|
NM_015335.5(MED13L):c.6368A>G (p.Gln2123Arg)
|
|
|
NM_015335.5(MED13L):c.6392C>T (p.Ser2131Leu)
|
|
|
NM_015335.5(MED13L):c.6454C>T (p.Arg2152Trp)
|
|
|
NM_015335.5(MED13L):c.652G>A (p.Gly218Arg)
|
|
|
NM_015335.5(MED13L):c.6539C>T (p.Thr2180Met)
|
rs1875744082
|
|
NM_015335.5(MED13L):c.6548C>T (p.Pro2183Leu)
|
|
|
NM_015335.5(MED13L):c.6554C>A (p.Thr2185Asn)
|
|
|
NM_015335.5(MED13L):c.6562C>T (p.Arg2188Cys)
|
|
|
NM_015335.5(MED13L):c.6569C>G (p.Ser2190Cys)
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NM_015335.5(MED13L):c.6570dup (p.Cys2191fs)
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rs1592888491
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NM_015335.5(MED13L):c.6577C>A (p.Pro2193Thr)
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rs2137182119
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NM_015335.5(MED13L):c.6592G>C (p.Val2198Leu)
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NM_015335.5(MED13L):c.6626T>C (p.Ile2209Thr)
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NM_015335.5(MED13L):c.681_682delinsTG (p.Met227_Ser228delinsIleAla)
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NM_015335.5(MED13L):c.698G>T (p.Arg233Leu)
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NM_015335.5(MED13L):c.727T>C (p.Tyr243His)
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NM_015335.5(MED13L):c.735G>T (p.Met245Ile)
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NM_015335.5(MED13L):c.747G>T (p.Lys249Asn)
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rs921393421
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NM_015335.5(MED13L):c.752A>G (p.Glu251Gly)
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rs28940309
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NM_015335.5(MED13L):c.769G>A (p.Asp257Asn)
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NM_015335.5(MED13L):c.785A>G (p.Asp262Gly)
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NM_015335.5(MED13L):c.787G>A (p.Asp263Asn)
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NM_015335.5(MED13L):c.799G>A (p.Val267Met)
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NM_015335.5(MED13L):c.79C>T (p.Leu27Phe)
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NM_015335.5(MED13L):c.7G>A (p.Ala3Thr)
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NM_015335.5(MED13L):c.829C>G (p.Arg277Gly)
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NM_015335.5(MED13L):c.850T>A (p.Phe284Ile)
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NM_015335.5(MED13L):c.88A>G (p.Ile30Val)
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rs2138459773
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NM_015335.5(MED13L):c.896C>G (p.Ala299Gly)
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NM_015335.5(MED13L):c.898A>T (p.Ser300Cys)
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NM_015335.5(MED13L):c.92A>G (p.Lys31Arg)
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NM_015335.5(MED13L):c.941G>T (p.Ser314Ile)
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NM_015335.5(MED13L):c.970C>T (p.Pro324Ser)
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rs1183900324
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NM_015335.5(MED13L):c.971C>T (p.Pro324Leu)
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NM_015335.5(MED13L):c.986C>T (p.Thr329Ile)
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NM_015335.5(MED13L):c.993A>G (p.Pro331=)
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rs780190117
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