|
NM_015335.5(MED13L):c.6068-8C>T
|
rs61936939
|
0.01078
|
|
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.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.1910G>A (p.Arg637His)
|
rs146499452
|
0.00052
|
|
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu)
|
rs112709561
|
0.00041
|
|
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu)
|
rs113890513
|
0.00032
|
|
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.1185A>C (p.Gln395His)
|
rs374884525
|
0.00005
|
|
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg)
|
rs1210016465
|
0.00004
|
|
NM_015335.5(MED13L):c.4711A>G (p.Thr1571Ala)
|
rs773833981
|
0.00003
|
|
NM_015335.5(MED13L):c.6580G>A (p.Val2194Ile)
|
rs377611234
|
0.00003
|
|
NM_015335.5(MED13L):c.4788T>A (p.Ile1596=)
|
rs757338321
|
0.00002
|
|
NM_015335.5(MED13L):c.5630A>G (p.Gln1877Arg)
|
rs772898348
|
0.00002
|
|
NM_015335.5(MED13L):c.1609A>G (p.Ser537Gly)
|
rs1332032276
|
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.2330C>G (p.Ser777Cys)
|
rs1879044151
|
0.00001
|
|
NM_015335.5(MED13L):c.3518G>T (p.Gly1173Val)
|
rs773730403
|
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.4576C>A (p.Pro1526Thr)
|
rs752521430
|
0.00001
|
|
NM_015335.5(MED13L):c.4693A>C (p.Thr1565Pro)
|
rs1261763875
|
0.00001
|
|
NM_015335.5(MED13L):c.5294A>G (p.Gln1765Arg)
|
rs369933421
|
0.00001
|
|
NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu)
|
rs774432060
|
0.00001
|
|
GRCh37/hg19 12q24.21(chr12:116446308-116638445)
|
|
|
|
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
|
|
|
|
GRCh37/hg19 12q24.21(chr12:116622732-116685976)
|
|
|
|
GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1
|
|
|
|
NM_015335.4(MED13L):c.516_517delinsAT (p.His172_Gly173delinsGlnTer)
|
rs1555250044
|
|
|
NM_015335.4(MED13L):c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr)
|
rs1555241160
|
|
|
NM_015335.5(MED13L):c.1009+5G>C
|
rs1879910076
|
|
|
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp)
|
|
|
|
NM_015335.5(MED13L):c.1042C>T (p.His348Tyr)
|
|
|
|
NM_015335.5(MED13L):c.1067T>G (p.Met356Arg)
|
|
|
|
NM_015335.5(MED13L):c.1072A>G (p.Thr358Ala)
|
|
|
|
NM_015335.5(MED13L):c.1077_1093del (p.Met359fs)
|
rs1879651226
|
|
|
NM_015335.5(MED13L):c.1141T>C (p.Trp381Arg)
|
|
|
|
NM_015335.5(MED13L):c.1175+20T>C
|
rs1879642923
|
|
|
NM_015335.5(MED13L):c.1218dup (p.Ser407Ter)
|
rs2137404791
|
|
|
NM_015335.5(MED13L):c.124dup (p.Asp42fs)
|
rs869312875
|
|
|
NM_015335.5(MED13L):c.1267T>G (p.Cys423Gly)
|
|
|
|
NM_015335.5(MED13L):c.1274G>C (p.Cys425Ser)
|
|
|
|
NM_015335.5(MED13L):c.1338_1341dup (p.Gly448fs)
|
rs1555248025
|
|
|
NM_015335.5(MED13L):c.1496dup (p.Met499fs)
|
rs1879220710
|
|
|
NM_015335.5(MED13L):c.1656A>G (p.Ile552Met)
|
rs746110094
|
|
|
NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter)
|
rs1555247936
|
|
|
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs)
|
rs869025286
|
|
|
NM_015335.5(MED13L):c.173T>A (p.Leu58Ter)
|
rs1870211191
|
|
|
NM_015335.5(MED13L):c.1744del (p.Leu582fs)
|
|
|
|
NM_015335.5(MED13L):c.1745T>C (p.Leu582Pro)
|
|
|
|
NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs)
|
rs1555247853
|
|
|
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs)
|
rs1555247800
|
|
|
NM_015335.5(MED13L):c.1A>G (p.Met1Val)
|
rs1131691818
|
|
|
NM_015335.5(MED13L):c.2012+10CT[2]
|
rs564143152
|
|
|
NM_015335.5(MED13L):c.2013-1G>T
|
|
|
|
NM_015335.5(MED13L):c.2013-29dup
|
rs542425590
|
|
|
NM_015335.5(MED13L):c.2032_2035del (p.Lys678fs)
|
|
|
|
NM_015335.5(MED13L):c.2059C>T (p.Gln687Ter)
|
rs1555247699
|
|
|
NM_015335.5(MED13L):c.2061G>T (p.Gln687His)
|
rs770538291
|
|
|
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter)
|
rs1592940794
|
|
|
NM_015335.5(MED13L):c.2107C>T (p.Gln703Ter)
|
rs1555247672
|
|
|
NM_015335.5(MED13L):c.2114C>G (p.Pro705Arg)
|
rs2137378723
|
|
|
NM_015335.5(MED13L):c.217C>T (p.Arg73Cys)
|
|
|
|
NM_015335.5(MED13L):c.2227A>C (p.Lys743Gln)
|
|
|
|
NM_015335.5(MED13L):c.2239-11T>G
|
rs2137373566
|
|
|
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu)
|
rs368050346
|
|
|
NM_015335.5(MED13L):c.227T>C (p.Val76Ala)
|
|
|
|
NM_015335.5(MED13L):c.2318del (p.Ser773fs)
|
rs1879044510
|
|
|
NM_015335.5(MED13L):c.2320del (p.Ile774fs)
|
rs2137373056
|
|
|
NM_015335.5(MED13L):c.2340_2343del (p.Thr781fs)
|
rs1879042937
|
|
|
NM_015335.5(MED13L):c.2345-3C>G
|
rs1592939069
|
|
|
NM_015335.5(MED13L):c.2363C>T (p.Ala788Val)
|
rs1299165203
|
|
|
NM_015335.5(MED13L):c.2399dup (p.Thr801fs)
|
rs1135401766
|
|
|
NM_015335.5(MED13L):c.2504del (p.Pro835fs)
|
rs1555246952
|
|
|
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly)
|
rs1555246154
|
|
|
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu)
|
rs886039599
|
|
|
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu)
|
rs1555246145
|
|
|
NM_015335.5(MED13L):c.2598C>T (p.Pro866=)
|
|
|
|
NM_015335.5(MED13L):c.2600C>T (p.Thr867Ile)
|
rs1555246143
|
|
|
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser)
|
rs1057524103
|
|
|
NM_015335.5(MED13L):c.2606C>T (p.Pro869Leu)
|
|
|
|
NM_015335.5(MED13L):c.2635C>G (p.Pro879Ala)
|
rs2137330781
|
|
|
NM_015335.5(MED13L):c.263G>A (p.Trp88Ter)
|
rs1870202051
|
|
|
NM_015335.5(MED13L):c.278del (p.Asn93fs)
|
|
|
|
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs)
|
rs1064796611
|
|
|
NM_015335.5(MED13L):c.2929G>A (p.Ala977Thr)
|
|
|
|
NM_015335.5(MED13L):c.2952A>G (p.Gln984=)
|
|
|
|
NM_015335.5(MED13L):c.2983A>G (p.Arg995Gly)
|
|
|
|
NM_015335.5(MED13L):c.2996+1G>A
|
rs1878413465
|
|
|
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.3034del (p.Tyr1012fs)
|
|
|
|
NM_015335.5(MED13L):c.3133C>T (p.Arg1045Cys)
|
rs1565997620
|
|
|
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter)
|
rs2137307992
|
|
|
NM_015335.5(MED13L):c.319dup (p.Glu107fs)
|
rs2137899583
|
|
|
NM_015335.5(MED13L):c.3205C>T (p.Gln1069Ter)
|
rs2137307819
|
|
|
NM_015335.5(MED13L):c.3227G>A (p.Ser1076Asn)
|
rs1878075866
|
|
|
NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs)
|
rs1878068615
|
|
|
NM_015335.5(MED13L):c.329G>A (p.Trp110Ter)
|
rs2137899543
|
|
|
NM_015335.5(MED13L):c.3309del (p.Glu1105fs)
|
rs2137307119
|
|
|
NM_015335.5(MED13L):c.3346_3347dup (p.Asp1117fs)
|
rs2137306954
|
|
|
NM_015335.5(MED13L):c.3380del (p.Asn1127fs)
|
rs2137306817
|
|
|
NM_015335.5(MED13L):c.3383_3384del (p.Asn1127_Phe1128insTer)
|
|
|
|
NM_015335.5(MED13L):c.338G>T (p.Gly113Val)
|
|
|
|
NM_015335.5(MED13L):c.3459del (p.Asn1154fs)
|
|
|
|
NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter)
|
rs1555245108
|
|
|
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile)
|
rs1592923871
|
|
|
NM_015335.5(MED13L):c.3524A>G (p.Asn1175Ser)
|
|
|
|
NM_015335.5(MED13L):c.3627_3630del (p.Pro1210fs)
|
|
|
|
NM_015335.5(MED13L):c.3718C>G (p.Leu1240Val)
|
rs777146447
|
|
|
NM_015335.5(MED13L):c.3765del (p.Cys1256fs)
|
rs147976828
|
|
|
NM_015335.5(MED13L):c.3828T>A (p.Phe1276Leu)
|
|
|
|
NM_015335.5(MED13L):c.392_395del (p.Glu131fs)
|
rs1874072493
|
|
|
NM_015335.5(MED13L):c.3942_3943del (p.Ile1315fs)
|
rs1555244212
|
|
|
NM_015335.5(MED13L):c.395+1G>A
|
rs1874072309
|
|
|
NM_015335.5(MED13L):c.4011_4024del (p.Ile1338fs)
|
|
|
|
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys)
|
rs2137290227
|
|
|
NM_015335.5(MED13L):c.4041G>A (p.Trp1347Ter)
|
rs2137290161
|
|
|
NM_015335.5(MED13L):c.404T>C (p.Met135Thr)
|
rs752482619
|
|
|
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter)
|
rs1592919048
|
|
|
NM_015335.5(MED13L):c.4083del (p.Gln1361fs)
|
rs1877748039
|
|
|
NM_015335.5(MED13L):c.4086C>T (p.Phe1362=)
|
|
|
|
NM_015335.5(MED13L):c.4087del (p.His1363fs)
|
|
|
|
NM_015335.5(MED13L):c.4108_4114+3del
|
|
|
|
NM_015335.5(MED13L):c.4120del (p.Glu1374fs)
|
rs1877698147
|
|
|
NM_015335.5(MED13L):c.4123G>T (p.Glu1375Ter)
|
rs1877697992
|
|
|
NM_015335.5(MED13L):c.4132G>T (p.Glu1378Ter)
|
|
|
|
NM_015335.5(MED13L):c.4136C>T (p.Pro1379Leu)
|
|
|
|
NM_015335.5(MED13L):c.4183A>G (p.Thr1395Ala)
|
|
|
|
NM_015335.5(MED13L):c.4190C>T (p.Ser1397Leu)
|
rs2137287209
|
|
|
NM_015335.5(MED13L):c.4213G>T (p.Glu1405Ter)
|
rs2137287115
|
|
|
NM_015335.5(MED13L):c.4271_4276delinsTTCCC (p.Cys1424fs)
|
rs1877686983
|
|
|
NM_015335.5(MED13L):c.4300G>A (p.Ala1434Thr)
|
rs1363042572
|
|
|
NM_015335.5(MED13L):c.4353del (p.Gln1452fs)
|
rs2137278830
|
|
|
NM_015335.5(MED13L):c.4373A>G (p.Lys1458Arg)
|
|
|
|
NM_015335.5(MED13L):c.4386C>A (p.Asp1462Glu)
|
|
|
|
NM_015335.5(MED13L):c.4403dup (p.Thr1470fs)
|
rs1131691764
|
|
|
NM_015335.5(MED13L):c.4417C>T (p.Gln1473Ter)
|
rs1877535811
|
|
|
NM_015335.5(MED13L):c.442C>T (p.Arg148Ter)
|
rs1872666696
|
|
|
NM_015335.5(MED13L):c.443G>A (p.Arg148Gln)
|
rs1461395322
|
|
|
NM_015335.5(MED13L):c.4452del (p.Phe1484fs)
|
rs1555243582
|
|
|
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter)
|
rs1555243580
|
|
|
NM_015335.5(MED13L):c.4539_4542del (p.Pro1512_Tyr1513insTer)
|
|
|
|
NM_015335.5(MED13L):c.4618G>A (p.Ala1540Thr)
|
rs2137275405
|
|
|
NM_015335.5(MED13L):c.4622del (p.Thr1541fs)
|
rs1877476585
|
|
|
NM_015335.5(MED13L):c.4694C>T (p.Thr1565Ile)
|
|
|
|
NM_015335.5(MED13L):c.4716del (p.Pro1573fs)
|
rs1064796113
|
|
|
NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys)
|
|
|
|
NM_015335.5(MED13L):c.4745C>A (p.Ser1582Tyr)
|
rs748040838
|
|
|
NM_015335.5(MED13L):c.4789A>G (p.Ser1597Gly)
|
rs2137274550
|
|
|
NM_015335.5(MED13L):c.478A>G (p.Ser160Gly)
|
|
|
|
NM_015335.5(MED13L):c.4792C>T (p.Gln1598Ter)
|
rs2137274539
|
|
|
NM_015335.5(MED13L):c.47A>G (p.Asp16Gly)
|
|
|
|
NM_015335.5(MED13L):c.480-1G>T
|
rs869025288
|
|
|
NM_015335.5(MED13L):c.4950A>C (p.Gln1650His)
|
|
|
|
NM_015335.5(MED13L):c.4956-2A>C
|
rs1057518705
|
|
|
NM_015335.5(MED13L):c.4975_4976insC (p.Ile1659fs)
|
rs1877403231
|
|
|
NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn)
|
|
|
|
NM_015335.5(MED13L):c.5039A>G (p.Tyr1680Cys)
|
|
|
|
NM_015335.5(MED13L):c.5057C>T (p.Thr1686Met)
|
rs1877397719
|
|
|
NM_015335.5(MED13L):c.5119T>C (p.Tyr1707His)
|
rs1877392834
|
|
|
NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs)
|
rs1555243059
|
|
|
NM_015335.5(MED13L):c.5173C>T (p.Gln1725Ter)
|
rs1135401765
|
|
|
NM_015335.5(MED13L):c.5194A>G (p.Met1732Val)
|
|
|
|
NM_015335.5(MED13L):c.5244_5248dup (p.Met1750fs)
|
rs2137264830
|
|
|
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs)
|
rs1877279397
|
|
|
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter)
|
rs886041448
|
|
|
NM_015335.5(MED13L):c.5364+1G>T
|
|
|
|
NM_015335.5(MED13L):c.5364+1dup
|
rs1877270718
|
|
|
NM_015335.5(MED13L):c.5365-1G>A
|
rs1876893450
|
|
|
NM_015335.5(MED13L):c.5383C>G (p.Leu1795Val)
|
rs750257495
|
|
|
NM_015335.5(MED13L):c.539G>C (p.Ser180Thr)
|
|
|
|
NM_015335.5(MED13L):c.541_556delinsA (p.Val181_His186delinsAsn)
|
rs2137446876
|
|
|
NM_015335.5(MED13L):c.5444del (p.Thr1815fs)
|
rs879255407
|
|
|
NM_015335.5(MED13L):c.5502del (p.His1834fs)
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rs1565987758
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NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter)
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rs139063441
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NM_015335.5(MED13L):c.5588+1G>A
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rs1135401810
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NM_015335.5(MED13L):c.5625_5630del (p.Leu1876_Gln1877del)
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rs1876856419
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NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs)
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rs1876855942
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NM_015335.5(MED13L):c.5659G>A (p.Val1887Ile)
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rs201002721
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NM_015335.5(MED13L):c.5695G>A (p.Gly1899Arg)
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rs2137241977
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NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter)
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rs1876853109
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NM_015335.5(MED13L):c.5722G>C (p.Glu1908Gln)
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NM_015335.5(MED13L):c.5737A>T (p.Ser1913Cys)
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NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs)
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rs1876629983
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NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp)
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NM_015335.5(MED13L):c.5904G>A (p.Met1968Ile)
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rs2137223825
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NM_015335.5(MED13L):c.5941C>T (p.Gln1981Ter)
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rs2137223723
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NM_015335.5(MED13L):c.5965C>T (p.Gln1989Ter)
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rs1555241166
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NM_015335.5(MED13L):c.5978G>A (p.Cys1993Tyr)
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rs2137223521
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NM_015335.5(MED13L):c.5986A>G (p.Ile1996Val)
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rs1272594944
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NM_015335.5(MED13L):c.5990dup (p.Leu1997fs)
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rs1876520009
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NM_015335.5(MED13L):c.6017_6035del (p.Gln2006fs)
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NM_015335.5(MED13L):c.6039del (p.Asn2014fs)
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NM_015335.5(MED13L):c.610C>G (p.Pro204Ala)
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NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs)
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rs869025287
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NM_015335.5(MED13L):c.6151C>T (p.Pro2051Ser)
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rs2137216697
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NM_015335.5(MED13L):c.6155A>C (p.Asn2052Thr)
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rs766487372
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NM_015335.5(MED13L):c.6184C>T (p.Pro2062Ser)
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NM_015335.5(MED13L):c.6195dup (p.Gly2066fs)
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rs2137216530
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NM_015335.5(MED13L):c.6226-1G>C
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rs1876150289
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NM_015335.5(MED13L):c.6234_6235del (p.Glu2079fs)
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NM_015335.5(MED13L):c.6260del (p.Pro2087fs)
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rs1565982697
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NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu)
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rs1876147349
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NM_015335.5(MED13L):c.6331del (p.Gln2111fs)
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NM_015335.5(MED13L):c.6356A>G (p.Gln2119Arg)
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NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met)
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rs869312707
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NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu)
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rs1565981137
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NM_015335.5(MED13L):c.6556C>T (p.Gln2186Ter)
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rs1555239555
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NM_015335.5(MED13L):c.6577C>A (p.Pro2193Thr)
|
rs2137182119
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NM_015335.5(MED13L):c.6626T>C (p.Ile2209Thr)
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NM_015335.5(MED13L):c.745A>T (p.Lys249Ter)
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rs1879951118
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NM_015335.5(MED13L):c.747_748del (p.Lys250fs)
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rs1592953902
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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.760_1175+967del
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NM_015335.5(MED13L):c.799G>A (p.Val267Met)
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NM_015335.5(MED13L):c.829C>G (p.Arg277Gly)
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NM_015335.5(MED13L):c.82dup (p.Thr28fs)
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rs1870221353
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NM_015335.5(MED13L):c.881_882insAATCCCGGT (p.Val294_Pro295insIleProVal)
|
|
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NM_015335.5(MED13L):c.889_890del (p.Ser297fs)
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NM_015335.5(MED13L):c.898A>T (p.Ser300Cys)
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NM_015335.5(MED13L):c.970C>T (p.Pro324Ser)
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rs1183900324
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