NM_005120.3(MED12):c.6235A>G (p.Ile2079Val)
|
rs200820997
|
0.00017
|
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)
|
rs372606012
|
0.00006
|
NM_005120.3(MED12):c.4253+4G>A
|
rs750162341
|
0.00005
|
NM_005120.3(MED12):c.4864-6C>T
|
rs1018026145
|
0.00005
|
NM_005120.3(MED12):c.3691+4C>T
|
rs373381746
|
0.00004
|
NM_005120.3(MED12):c.5135G>A (p.Arg1712Gln)
|
rs1196582695
|
0.00004
|
NM_005120.3(MED12):c.5966G>A (p.Arg1989His)
|
rs1569482448
|
0.00004
|
NM_005120.3(MED12):c.2849+14C>T
|
rs398124196
|
0.00003
|
NM_005120.3(MED12):c.448A>G (p.Thr150Ala)
|
rs758980420
|
0.00003
|
NM_005120.3(MED12):c.6326A>C (p.Gln2109Pro)
|
rs755793630
|
0.00003
|
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)
|
rs368913305
|
0.00002
|
NM_005120.3(MED12):c.2227-4G>A
|
rs751157238
|
0.00002
|
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser)
|
rs863223704
|
0.00002
|
NM_005120.3(MED12):c.3693G>T (p.Gly1231=)
|
rs965896553
|
0.00002
|
NM_005120.3(MED12):c.3796C>T (p.Arg1266Cys)
|
rs1060502168
|
0.00002
|
NM_005120.3(MED12):c.439G>A (p.Ala147Thr)
|
rs748453083
|
0.00002
|
NM_005120.3(MED12):c.4577A>G (p.Lys1526Arg)
|
rs774937112
|
0.00002
|
NM_005120.3(MED12):c.5585G>A (p.Arg1862His)
|
rs773713291
|
0.00002
|
NM_005120.3(MED12):c.6076A>G (p.Met2026Val)
|
rs1294140756
|
0.00002
|
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser)
|
rs901541873
|
0.00002
|
NM_005120.3(MED12):c.6218A>G (p.Gln2073Arg)
|
rs2092345351
|
0.00002
|
NM_005120.3(MED12):c.6267+166G>A
|
rs1247198443
|
0.00002
|
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)
|
rs752300879
|
0.00001
|
NM_005120.3(MED12):c.1208A>G (p.Asn403Ser)
|
rs1602295395
|
0.00001
|
NM_005120.3(MED12):c.1253G>A (p.Arg418His)
|
rs1431487428
|
0.00001
|
NM_005120.3(MED12):c.1746G>A (p.Thr582=)
|
rs773240125
|
0.00001
|
NM_005120.3(MED12):c.1814G>A (p.Arg605Gln)
|
rs1275427306
|
0.00001
|
NM_005120.3(MED12):c.1996A>G (p.Met666Val)
|
rs1401003961
|
0.00001
|
NM_005120.3(MED12):c.2129T>C (p.Val710Ala)
|
rs1187273369
|
0.00001
|
NM_005120.3(MED12):c.2137C>T (p.Pro713Ser)
|
rs772484830
|
0.00001
|
NM_005120.3(MED12):c.2305C>A (p.His769Asn)
|
rs755014778
|
0.00001
|
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr)
|
rs778325168
|
0.00001
|
NM_005120.3(MED12):c.2341G>A (p.Val781Ile)
|
rs2092300526
|
0.00001
|
NM_005120.3(MED12):c.2351G>A (p.Arg784His)
|
rs777238737
|
0.00001
|
NM_005120.3(MED12):c.3070G>A (p.Asp1024Asn)
|
rs1469572055
|
0.00001
|
NM_005120.3(MED12):c.3210-27C>T
|
rs752463122
|
0.00001
|
NM_005120.3(MED12):c.3409G>A (p.Ala1137Thr)
|
rs1317457286
|
0.00001
|
NM_005120.3(MED12):c.3658G>A (p.Val1220Met)
|
rs1236099919
|
0.00001
|
NM_005120.3(MED12):c.3692-7A>G
|
rs1014804538
|
0.00001
|
NM_005120.3(MED12):c.3759G>T (p.Glu1253Asp)
|
rs1350628654
|
0.00001
|
NM_005120.3(MED12):c.4016C>T (p.Pro1339Leu)
|
rs757845624
|
0.00001
|
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp)
|
rs777250096
|
0.00001
|
NM_005120.3(MED12):c.4154C>T (p.Ala1385Val)
|
rs771349148
|
0.00001
|
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)
|
rs1366165823
|
0.00001
|
NM_005120.3(MED12):c.4382C>T (p.Ser1461Leu)
|
rs1458136598
|
0.00001
|
NM_005120.3(MED12):c.4617+3G>A
|
rs748647968
|
0.00001
|
NM_005120.3(MED12):c.4635C>G (p.Asp1545Glu)
|
rs151316557
|
0.00001
|
NM_005120.3(MED12):c.5087C>T (p.Pro1696Leu)
|
rs1211195670
|
0.00001
|
NM_005120.3(MED12):c.5134C>T (p.Arg1712Trp)
|
rs763233945
|
0.00001
|
NM_005120.3(MED12):c.5198G>A (p.Arg1733Gln)
|
rs754537871
|
0.00001
|
NM_005120.3(MED12):c.5210A>G (p.Tyr1737Cys)
|
rs2092332758
|
0.00001
|
NM_005120.3(MED12):c.5758G>A (p.Gly1920Ser)
|
rs1415832392
|
0.00001
|
NM_005120.3(MED12):c.5952T>C (p.Leu1984=)
|
rs2092336597
|
0.00001
|
NM_005120.3(MED12):c.5993A>G (p.Tyr1998Cys)
|
rs1324299187
|
0.00001
|
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser)
|
rs769232520
|
0.00001
|
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)
|
rs2092288110
|
0.00001
|
NM_005120.3(MED12):c.6186G>C (p.Gln2062His)
|
rs1362044936
|
0.00001
|
NM_005120.3(MED12):c.6416G>A (p.Arg2139His)
|
rs1262235402
|
0.00001
|
NM_005120.3(MED12):c.671A>G (p.His224Arg)
|
rs1459490134
|
0.00001
|
NM_005120.3(MED12):c.707C>T (p.Thr236Ile)
|
rs1278481602
|
0.00001
|
NM_005120.3(MED12):c.76C>G (p.Pro26Ala)
|
rs776154055
|
0.00001
|
NM_005120.3(MED12):c.817C>T (p.Leu273Phe)
|
rs1219519252
|
0.00001
|
NC_000023.10:g.(?_70338585)_(70362088_?)del
|
|
|
NC_000023.10:g.(?_70338585)_(70362088_?)dup
|
|
|
NC_000023.10:g.(?_70348944)_(70350084_?)dup
|
|
|
NC_000023.10:g.(?_70348958)_(70350070_?)dup
|
|
|
NC_000023.10:g.(?_70348964)_(70350064_?)dup
|
|
|
NC_000023.11:g.(?_71118745)_(71142228_?)dup
|
|
|
NC_000023.11:g.71124975GTT[1]
|
|
|
NC_000023.11:g.71141229GCA[3]
|
|
|
NC_000023.11:g.71141232GCAGCAGCAACAGCAACAGCAGCAGCAGCA[3]
|
rs773480549
|
|
NM_005120.2(MED12):c.6273_6278dup
|
rs748394417
|
|
NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln)
|
rs748394417
|
|
NM_005120.2(MED12):c.6300_6329del
|
rs773480549
|
|
NM_005120.3(MED12):c.100-10C>G
|
|
|
NM_005120.3(MED12):c.100-11T>G
|
|
|
NM_005120.3(MED12):c.100-15G>T
|
|
|
NM_005120.3(MED12):c.100-15_100-14delinsTT
|
|
|
NM_005120.3(MED12):c.1009C>T (p.Pro337Ser)
|
|
|
NM_005120.3(MED12):c.1012A>G (p.Thr338Ala)
|
|
|
NM_005120.3(MED12):c.1013C>T (p.Thr338Ile)
|
|
|
NM_005120.3(MED12):c.1030A>C (p.Thr344Pro)
|
rs1556334571
|
|
NM_005120.3(MED12):c.1060C>A (p.Gln354Lys)
|
|
|
NM_005120.3(MED12):c.106C>A (p.Leu36Met)
|
rs2147769903
|
|
NM_005120.3(MED12):c.1091G>A (p.Cys364Tyr)
|
rs2147780559
|
|
NM_005120.3(MED12):c.1101+3A>G
|
|
|
NM_005120.3(MED12):c.1102-6T>C
|
|
|
NM_005120.3(MED12):c.1103C>T (p.Thr368Ile)
|
|
|
NM_005120.3(MED12):c.1131G>A (p.Leu377=)
|
rs755897379
|
|
NM_005120.3(MED12):c.1234G>A (p.Ala412Thr)
|
|
|
NM_005120.3(MED12):c.1240A>G (p.Thr414Ala)
|
|
|
NM_005120.3(MED12):c.1249G>A (p.Val417Ile)
|
rs2147783166
|
|
NM_005120.3(MED12):c.1252C>T (p.Arg418Cys)
|
rs2147783217
|
|
NM_005120.3(MED12):c.1277A>C (p.Gln426Pro)
|
|
|
NM_005120.3(MED12):c.133_138del (p.Phe45_Asn46del)
|
|
|
NM_005120.3(MED12):c.137A>C (p.Asn46Thr)
|
|
|
NM_005120.3(MED12):c.1767G>C (p.Glu589Asp)
|
rs2147789356
|
|
NM_005120.3(MED12):c.1769G>A (p.Arg590Gln)
|
|
|
NM_005120.3(MED12):c.1769G>T (p.Arg590Leu)
|
|
|
NM_005120.3(MED12):c.1801T>G (p.Cys601Gly)
|
|
|
NM_005120.3(MED12):c.1821T>A (p.Asp607Glu)
|
rs375897167
|
|
NM_005120.3(MED12):c.1839G>A (p.Met613Ile)
|
|
|
NM_005120.3(MED12):c.1843A>G (p.Thr615Ala)
|
|
|
NM_005120.3(MED12):c.184G>A (p.Val62Ile)
|
rs1039763693
|
|
NM_005120.3(MED12):c.1889G>T (p.Gly630Val)
|
|
|
NM_005120.3(MED12):c.1913A>G (p.Asp638Gly)
|
|
|
NM_005120.3(MED12):c.1918C>A (p.Pro640Thr)
|
|
|
NM_005120.3(MED12):c.1922C>T (p.Ala641Val)
|
|
|
NM_005120.3(MED12):c.1924G>A (p.Asp642Asn)
|
rs1556335288
|
|
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr)
|
rs950787066
|
|
NM_005120.3(MED12):c.1945G>C (p.Ala649Pro)
|
|
|
NM_005120.3(MED12):c.1952GCA[4] (p.Ser655del)
|
|
|
NM_005120.3(MED12):c.1963A>G (p.Ser655Gly)
|
rs1569481250
|
|
NM_005120.3(MED12):c.1965C>G (p.Ser655Arg)
|
|
|
NM_005120.3(MED12):c.1970T>C (p.Leu657Pro)
|
rs2147790051
|
|
NM_005120.3(MED12):c.1975-16T>C
|
|
|
NM_005120.3(MED12):c.1975-9T>C
|
|
|
NM_005120.3(MED12):c.2009C>A (p.Pro670His)
|
|
|
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
|
|
|
NM_005120.3(MED12):c.2035A>G (p.Met679Val)
|
|
|
NM_005120.3(MED12):c.205-11T>G
|
|
|
NM_005120.3(MED12):c.205-3C>T
|
|
|
NM_005120.3(MED12):c.2068A>G (p.Thr690Ala)
|
rs878854752
|
|
NM_005120.3(MED12):c.2082G>A (p.Glu694=)
|
|
|
NM_005120.3(MED12):c.2093G>A (p.Ser698Asn)
|
rs863223710
|
|
NM_005120.3(MED12):c.2146G>C (p.Glu716Gln)
|
|
|
NM_005120.3(MED12):c.216C>T (p.Asn72=)
|
|
|
NM_005120.3(MED12):c.2194G>T (p.Val732Leu)
|
|
|
NM_005120.3(MED12):c.2199G>A (p.Gln733=)
|
|
|
NM_005120.3(MED12):c.2263G>A (p.Val755Ile)
|
|
|
NM_005120.3(MED12):c.2266G>A (p.Val756Ile)
|
|
|
NM_005120.3(MED12):c.2281G>A (p.Gly761Arg)
|
|
|
NM_005120.3(MED12):c.2296G>T (p.Asp766Tyr)
|
rs2147792986
|
|
NM_005120.3(MED12):c.2302C>T (p.Arg768Cys)
|
|
|
NM_005120.3(MED12):c.2303G>A (p.Arg768His)
|
|
|
NM_005120.3(MED12):c.2350C>T (p.Arg784Cys)
|
rs2147793341
|
|
NM_005120.3(MED12):c.2360C>G (p.Thr787Arg)
|
|
|
NM_005120.3(MED12):c.2363C>G (p.Ala788Gly)
|
|
|
NM_005120.3(MED12):c.2371+4G>C
|
|
|
NM_005120.3(MED12):c.2372-15T>A
|
|
|
NM_005120.3(MED12):c.2372-17_2372-6del
|
|
|
NM_005120.3(MED12):c.2380G>A (p.Ala794Thr)
|
|
|
NM_005120.3(MED12):c.2383C>T (p.Pro795Ser)
|
rs1602297729
|
|
NM_005120.3(MED12):c.2384C>T (p.Pro795Leu)
|
rs2092301217
|
|
NM_005120.3(MED12):c.2411T>G (p.Leu804Arg)
|
|
|
NM_005120.3(MED12):c.2422+11G>A
|
|
|
NM_005120.3(MED12):c.2422+6T>G
|
rs1569481413
|
|
NM_005120.3(MED12):c.244C>G (p.Arg82Gly)
|
|
|
NM_005120.3(MED12):c.2456G>A (p.Arg819Gln)
|
rs1192740859
|
|
NM_005120.3(MED12):c.245G>A (p.Arg82His)
|
|
|
NM_005120.3(MED12):c.2467T>G (p.Phe823Val)
|
|
|
NM_005120.3(MED12):c.2470C>T (p.Pro824Ser)
|
|
|
NM_005120.3(MED12):c.2529G>C (p.Gln843His)
|
rs2147795833
|
|
NM_005120.3(MED12):c.2532C>G (p.Val844=)
|
|
|
NM_005120.3(MED12):c.2534C>T (p.Thr845Met)
|
|
|
NM_005120.3(MED12):c.2542-4T>G
|
rs2147796325
|
|
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro)
|
rs1135401775
|
|
NM_005120.3(MED12):c.2549G>A (p.Arg850Gln)
|
rs2092303365
|
|
NM_005120.3(MED12):c.2559G>A (p.Leu853=)
|
rs2147796383
|
|
NM_005120.3(MED12):c.2570C>T (p.Thr857Met)
|
|
|
NM_005120.3(MED12):c.2574C>G (p.Ser858Arg)
|
|
|
NM_005120.3(MED12):c.2631C>G (p.Phe877Leu)
|
|
|
NM_005120.3(MED12):c.2663G>C (p.Gly888Ala)
|
rs2092303518
|
|
NM_005120.3(MED12):c.267T>C (p.Thr89=)
|
|
|
NM_005120.3(MED12):c.2685+6G>A
|
rs2147796689
|
|
NM_005120.3(MED12):c.272G>A (p.Arg91His)
|
rs1057524478
|
|
NM_005120.3(MED12):c.272G>T (p.Arg91Leu)
|
rs1057524478
|
|
NM_005120.3(MED12):c.2759C>T (p.Thr920Ile)
|
|
|
NM_005120.3(MED12):c.281C>T (p.Pro94Leu)
|
rs1602293842
|
|
NM_005120.3(MED12):c.2850G>T (p.Gly950=)
|
|
|
NM_005120.3(MED12):c.2860G>A (p.Val954Ile)
|
|
|
NM_005120.3(MED12):c.2894C>T (p.Ser965Phe)
|
rs2147799414
|
|
NM_005120.3(MED12):c.2899G>A (p.Ala967Thr)
|
|
|
NM_005120.3(MED12):c.2905C>T (p.Arg969Cys)
|
|
|
NM_005120.3(MED12):c.2982-14C>T
|
|
|
NM_005120.3(MED12):c.2992T>C (p.Ser998Pro)
|
|
|
NM_005120.3(MED12):c.299A>T (p.Asp100Val)
|
|
|
NM_005120.3(MED12):c.3008C>T (p.Thr1003Ile)
|
|
|
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)
|
rs879255526
|
|
NM_005120.3(MED12):c.3069C>G (p.Ile1023Met)
|
rs753751305
|
|
NM_005120.3(MED12):c.3109A>G (p.Thr1037Ala)
|
rs2147800946
|
|
NM_005120.3(MED12):c.3125G>A (p.Ser1042Asn)
|
rs1556336419
|
|
NM_005120.3(MED12):c.3163T>A (p.Cys1055Ser)
|
rs2147801044
|
|
NM_005120.3(MED12):c.3209+4T>C
|
|
|
NM_005120.3(MED12):c.3209+6G>A
|
|
|
NM_005120.3(MED12):c.3209+7G>T
|
rs2147801168
|
|
NM_005120.3(MED12):c.320C>T (p.Ala107Val)
|
rs2092284960
|
|
NM_005120.3(MED12):c.3220A>G (p.Ile1074Val)
|
rs2092308336
|
|
NM_005120.3(MED12):c.3222C>G (p.Ile1074Met)
|
|
|
NM_005120.3(MED12):c.3260C>T (p.Ser1087Leu)
|
|
|
NM_005120.3(MED12):c.3284T>C (p.Val1095Ala)
|
rs2147802401
|
|
NM_005120.3(MED12):c.3296T>C (p.Leu1099Ser)
|
|
|
NM_005120.3(MED12):c.3354+6A>C
|
|
|
NM_005120.3(MED12):c.33C>A (p.His11Gln)
|
|
|
NM_005120.3(MED12):c.3430G>A (p.Glu1144Lys)
|
|
|
NM_005120.3(MED12):c.3508C>T (p.Arg1170Trp)
|
rs1389138246
|
|
NM_005120.3(MED12):c.3509G>A (p.Arg1170Gln)
|
rs2147804813
|
|
NM_005120.3(MED12):c.3558T>A (p.Asn1186Lys)
|
|
|
NM_005120.3(MED12):c.3566A>G (p.Gln1189Arg)
|
rs2147804938
|
|
NM_005120.3(MED12):c.357C>G (p.Asp119Glu)
|
|
|
NM_005120.3(MED12):c.3587C>A (p.Thr1196Lys)
|
rs1556336812
|
|
NM_005120.3(MED12):c.3598C>T (p.Arg1200Cys)
|
|
|
NM_005120.3(MED12):c.3605C>A (p.Ser1202Tyr)
|
|
|
NM_005120.3(MED12):c.3605C>G (p.Ser1202Cys)
|
|
|
NM_005120.3(MED12):c.3613C>T (p.Arg1205Cys)
|
rs2092311027
|
|
NM_005120.3(MED12):c.3619C>G (p.Leu1207Val)
|
rs2092311035
|
|
NM_005120.3(MED12):c.361G>T (p.Ala121Ser)
|
|
|
NM_005120.3(MED12):c.3622C>G (p.Leu1208Val)
|
|
|
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys)
|
rs2092311077
|
|
NM_005120.3(MED12):c.3641G>A (p.Arg1214His)
|
rs2092311084
|
|
NM_005120.3(MED12):c.3691+9G>A
|
|
|
NM_005120.3(MED12):c.3728C>T (p.Thr1243Ile)
|
|
|
NM_005120.3(MED12):c.3731G>A (p.Gly1244Glu)
|
|
|
NM_005120.3(MED12):c.3742G>C (p.Glu1248Gln)
|
rs2092312145
|
|
NM_005120.3(MED12):c.3743A>T (p.Glu1248Val)
|
|
|
NM_005120.3(MED12):c.3760G>A (p.Gly1254Arg)
|
rs1459632977
|
|
NM_005120.3(MED12):c.3762AGG[1] (p.Gly1257del)
|
rs1602300077
|
|
NM_005120.3(MED12):c.3769G>A (p.Gly1257Ser)
|
rs776373565
|
|
NM_005120.3(MED12):c.3779G>T (p.Gly1260Val)
|
rs2147807429
|
|
NM_005120.3(MED12):c.3781C>T (p.Arg1261Trp)
|
|
|
NM_005120.3(MED12):c.37C>T (p.Pro13Ser)
|
|
|
NM_005120.3(MED12):c.3813G>T (p.Glu1271Asp)
|
|
|
NM_005120.3(MED12):c.3820A>G (p.Ser1274Gly)
|
rs2147807641
|
|
NM_005120.3(MED12):c.3868-11A>G
|
|
|
NM_005120.3(MED12):c.3919C>G (p.Leu1307Val)
|
|
|
NM_005120.3(MED12):c.3943G>A (p.Ala1315Thr)
|
|
|
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu)
|
rs2092313149
|
|
NM_005120.3(MED12):c.3955C>T (p.Arg1319Cys)
|
rs901783069
|
|
NM_005120.3(MED12):c.3956G>A (p.Arg1319His)
|
rs1421325265
|
|
NM_005120.3(MED12):c.397-12A>G
|
rs192515277
|
|
NM_005120.3(MED12):c.3989T>G (p.Leu1330Arg)
|
rs797045699
|
|
NM_005120.3(MED12):c.3998A>G (p.Asn1333Ser)
|
|
|
NM_005120.3(MED12):c.4011A>C (p.Glu1337Asp)
|
rs2147808786
|
|
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
|
|
|
NM_005120.3(MED12):c.4036C>T (p.Arg1346Cys)
|
|
|
NM_005120.3(MED12):c.4048-3C>T
|
|
|
NM_005120.3(MED12):c.4048A>G (p.Asn1350Asp)
|
|
|
NM_005120.3(MED12):c.4069C>T (p.Arg1357Cys)
|
|
|
NM_005120.3(MED12):c.4076C>A (p.Ser1359Tyr)
|
|
|
NM_005120.3(MED12):c.4084G>C (p.Glu1362Gln)
|
|
|
NM_005120.3(MED12):c.4123A>G (p.Met1375Val)
|
|
|
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)
|
rs863223696
|
|
NM_005120.3(MED12):c.4187C>T (p.Thr1396Ile)
|
|
|
NM_005120.3(MED12):c.4196C>A (p.Ser1399Tyr)
|
|
|
NM_005120.3(MED12):c.4199C>T (p.Ser1400Phe)
|
|
|
NM_005120.3(MED12):c.4208C>A (p.Thr1403Asn)
|
rs2147813483
|
|
NM_005120.3(MED12):c.4210G>A (p.Ala1404Thr)
|
rs2147813494
|
|
NM_005120.3(MED12):c.4220T>G (p.Met1407Arg)
|
rs2092319173
|
|
NM_005120.3(MED12):c.4223C>T (p.Pro1408Leu)
|
|
|
NM_005120.3(MED12):c.4255T>C (p.Ser1419Pro)
|
rs2147814288
|
|
NM_005120.3(MED12):c.4325A>G (p.His1442Arg)
|
|
|
NM_005120.3(MED12):c.4328T>G (p.Val1443Gly)
|
|
|
NM_005120.3(MED12):c.4337C>T (p.Ala1446Val)
|
|
|
NM_005120.3(MED12):c.4343G>A (p.Gly1448Glu)
|
rs2147814559
|
|
NM_005120.3(MED12):c.434A>G (p.Tyr145Cys)
|
|
|
NM_005120.3(MED12):c.4369C>G (p.Leu1457Val)
|
|
|
NM_005120.3(MED12):c.4413G>A (p.Lys1471=)
|
rs2092320033
|
|
NM_005120.3(MED12):c.4418T>C (p.Met1473Thr)
|
|
|
NM_005120.3(MED12):c.4486C>T (p.Arg1496Cys)
|
rs759105512
|
|
NM_005120.3(MED12):c.4489G>A (p.Glu1497Lys)
|
rs868164882
|
|
NM_005120.3(MED12):c.4492G>A (p.Gly1498Arg)
|
rs2147817009
|
|
NM_005120.3(MED12):c.4535A>G (p.Asn1512Ser)
|
|
|
NM_005120.3(MED12):c.454C>T (p.Pro152Ser)
|
rs2147774389
|
|
NM_005120.3(MED12):c.4606C>T (p.Arg1536Trp)
|
rs2092323072
|
|
NM_005120.3(MED12):c.4638G>A (p.Thr1546=)
|
rs980389482
|
|
NM_005120.3(MED12):c.4639G>C (p.Val1547Leu)
|
|
|
NM_005120.3(MED12):c.4651A>G (p.Thr1551Ala)
|
rs1375497967
|
|
NM_005120.3(MED12):c.4652C>T (p.Thr1551Ile)
|
|
|
NM_005120.3(MED12):c.466G>A (p.Ala156Thr)
|
rs2147774436
|
|
NM_005120.3(MED12):c.4685T>G (p.Leu1562Arg)
|
rs2092327068
|
|
NM_005120.3(MED12):c.4720T>G (p.Ser1574Ala)
|
|
|
NM_005120.3(MED12):c.4728T>C (p.Asn1576=)
|
|
|
NM_005120.3(MED12):c.4762G>A (p.Val1588Met)
|
|
|
NM_005120.3(MED12):c.4762G>T (p.Val1588Leu)
|
rs767396596
|
|
NM_005120.3(MED12):c.4772A>G (p.Asn1591Ser)
|
rs2147822394
|
|
NM_005120.3(MED12):c.478A>G (p.Ile160Val)
|
|
|
NM_005120.3(MED12):c.4816A>G (p.Met1606Val)
|
|
|
NM_005120.3(MED12):c.4829A>G (p.Lys1610Arg)
|
|
|
NM_005120.3(MED12):c.4891A>G (p.Ser1631Gly)
|
|
|
NM_005120.3(MED12):c.4937G>A (p.Arg1646Gln)
|
rs2092328967
|
|
NM_005120.3(MED12):c.4979C>G (p.Thr1660Ser)
|
|
|
NM_005120.3(MED12):c.5005G>A (p.Asp1669Asn)
|
rs779481901
|
|
NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del)
|
|
|
NM_005120.3(MED12):c.503C>T (p.Ala168Val)
|
rs1602294043
|
|
NM_005120.3(MED12):c.5165G>A (p.Arg1722Gln)
|
|
|
NM_005120.3(MED12):c.5192G>A (p.Arg1731Lys)
|
rs1569482278
|
|
NM_005120.3(MED12):c.5237C>T (p.Pro1746Leu)
|
rs2147826599
|
|
NM_005120.3(MED12):c.5252C>A (p.Pro1751Gln)
|
rs748064846
|
|
NM_005120.3(MED12):c.5260C>G (p.Pro1754Ala)
|
|
|
NM_005120.3(MED12):c.5272G>C (p.Glu1758Gln)
|
|
|
NM_005120.3(MED12):c.5297C>A (p.Pro1766His)
|
|
|
NM_005120.3(MED12):c.5310C>A (p.Asp1770Glu)
|
|
|
NM_005120.3(MED12):c.5320G>A (p.Ala1774Thr)
|
|
|
NM_005120.3(MED12):c.5336C>T (p.Thr1779Ile)
|
rs1556338856
|
|
NM_005120.3(MED12):c.5344C>T (p.Arg1782Cys)
|
|
|
NM_005120.3(MED12):c.5345G>A (p.Arg1782His)
|
rs1060502167
|
|
NM_005120.3(MED12):c.5347AAG[2] (p.Lys1785del)
|
|
|
NM_005120.3(MED12):c.535C>T (p.His179Tyr)
|
|
|
NM_005120.3(MED12):c.536A>G (p.His179Arg)
|
rs2092285751
|
|
NM_005120.3(MED12):c.5400+4A>G
|
|
|
NM_005120.3(MED12):c.5400+6C>A
|
|
|
NM_005120.3(MED12):c.5401-3C>A
|
rs1180673067
|
|
NM_005120.3(MED12):c.5408G>A (p.Gly1803Glu)
|
rs2147827854
|
|
NM_005120.3(MED12):c.5417C>T (p.Pro1806Leu)
|
rs368093012
|
|
NM_005120.3(MED12):c.5422C>T (p.Arg1808Trp)
|
rs372271659
|
|
NM_005120.3(MED12):c.5423G>A (p.Arg1808Gln)
|
rs1432487094
|
|
NM_005120.3(MED12):c.5435A>G (p.Tyr1812Cys)
|
|
|
NM_005120.3(MED12):c.5440G>A (p.Val1814Met)
|
|
|
NM_005120.3(MED12):c.5475C>A (p.Asn1825Lys)
|
|
|
NM_005120.3(MED12):c.5487_5492dup (p.Thr1830_His1831insGlnThr)
|
rs2092334189
|
|
NM_005120.3(MED12):c.5497A>C (p.Asn1833His)
|
|
|
NM_005120.3(MED12):c.5552-3C>T
|
|
|
NM_005120.3(MED12):c.5621A>T (p.Tyr1874Phe)
|
|
|
NM_005120.3(MED12):c.5624C>T (p.Pro1875Leu)
|
|
|
NM_005120.3(MED12):c.5660G>A (p.Gly1887Asp)
|
|
|
NM_005120.3(MED12):c.566T>C (p.Ile189Thr)
|
|
|
NM_005120.3(MED12):c.5684C>T (p.Thr1895Ile)
|
|
|
NM_005120.3(MED12):c.5693A>G (p.Tyr1898Cys)
|
|
|
NM_005120.3(MED12):c.5708C>T (p.Pro1903Leu)
|
|
|
NM_005120.3(MED12):c.5717C>T (p.Pro1906Leu)
|
|
|
NM_005120.3(MED12):c.5734C>T (p.Arg1912Cys)
|
rs2147829625
|
|
NM_005120.3(MED12):c.5735G>T (p.Arg1912Leu)
|
rs767294730
|
|
NM_005120.3(MED12):c.5747A>G (p.Gln1916Arg)
|
rs2147829667
|
|
NM_005120.3(MED12):c.5748+11T>G
|
|
|
NM_005120.3(MED12):c.5753G>A (p.Ser1918Asn)
|
|
|
NM_005120.3(MED12):c.5761A>T (p.Met1921Leu)
|
|
|
NM_005120.3(MED12):c.5773T>C (p.Ser1925Pro)
|
rs2147830190
|
|
NM_005120.3(MED12):c.5794C>A (p.Pro1932Thr)
|
|
|
NM_005120.3(MED12):c.5794C>T (p.Pro1932Ser)
|
|
|
NM_005120.3(MED12):c.5819C>T (p.Thr1940Ile)
|
|
|
NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser)
|
rs2147830593
|
|
NM_005120.3(MED12):c.5849A>T (p.His1950Leu)
|
rs2092336344
|
|
NM_005120.3(MED12):c.5867A>C (p.His1956Pro)
|
|
|
NM_005120.3(MED12):c.5878G>A (p.Ala1960Thr)
|
rs2092336411
|
|
NM_005120.3(MED12):c.5897C>A (p.Pro1966His)
|
rs2147830796
|
|
NM_005120.3(MED12):c.5915C>T (p.Pro1972Leu)
|
rs2092336469
|
|
NM_005120.3(MED12):c.5922G>T (p.Gln1974His)
|
rs879255528
|
|
NM_005120.3(MED12):c.5923A>G (p.Ser1975Gly)
|
|
|
NM_005120.3(MED12):c.5957A>T (p.Asp1986Val)
|
|
|
NM_005120.3(MED12):c.5962A>G (p.Thr1988Ala)
|
|
|
NM_005120.3(MED12):c.5965C>T (p.Arg1989Cys)
|
rs1009330609
|
|
NM_005120.3(MED12):c.5970C>A (p.His1990Gln)
|
|
|
NM_005120.3(MED12):c.5972T>C (p.Leu1991Pro)
|
|
|
NM_005120.3(MED12):c.5983C>T (p.Pro1995Ser)
|
rs2092336678
|
|
NM_005120.3(MED12):c.5989G>T (p.Gly1997Cys)
|
rs1556339260
|
|
NM_005120.3(MED12):c.6015_6016delinsAA (p.Tyr2006Asn)
|
|
|
NM_005120.3(MED12):c.6017A>G (p.Tyr2006Cys)
|
|
|
NM_005120.3(MED12):c.6020G>A (p.Gly2007Glu)
|
rs2147831227
|
|
NM_005120.3(MED12):c.6022C>A (p.His2008Asn)
|
rs2147831234
|
|
NM_005120.3(MED12):c.6023A>G (p.His2008Arg)
|
|
|
NM_005120.3(MED12):c.6029T>C (p.Leu2010Pro)
|
|
|
NM_005120.3(MED12):c.6037A>G (p.Thr2013Ala)
|
rs777453338
|
|
NM_005120.3(MED12):c.6038C>G (p.Thr2013Ser)
|
|
|
NM_005120.3(MED12):c.6045-7T>G
|
|
|
NM_005120.3(MED12):c.6045G>A (p.Arg2015=)
|
|
|
NM_005120.3(MED12):c.6069G>C (p.Gln2023His)
|
|
|
NM_005120.3(MED12):c.6070A>T (p.Thr2024Ser)
|
|
|
NM_005120.3(MED12):c.6094C>G (p.Pro2032Ala)
|
rs2092344746
|
|
NM_005120.3(MED12):c.6103G>A (p.Ala2035Thr)
|
rs1602306821
|
|
NM_005120.3(MED12):c.6108G>C (p.Gln2036His)
|
|
|
NM_005120.3(MED12):c.6137C>G (p.Ala2046Gly)
|
|
|
NM_005120.3(MED12):c.6142C>G (p.Leu2048Val)
|
|
|
NM_005120.3(MED12):c.6150GCA[4] (p.Gln2075_Gln2076del)
|
rs769857818
|
|
NM_005120.3(MED12):c.6150GCA[5] (p.Gln2076del)
|
rs769857818
|
|
NM_005120.3(MED12):c.6150GCA[7] (p.Gln2076dup)
|
rs769857818
|
|
NM_005120.3(MED12):c.6168_6197del (p.Gln2067_Gln2076del)
|
|
|
NM_005120.3(MED12):c.616C>G (p.Arg206Gly)
|
rs1556334331
|
|
NM_005120.3(MED12):c.616C>T (p.Arg206Trp)
|
|
|
NM_005120.3(MED12):c.6177ACAGCAACAGCAGCAGCAGCAGCA[1] (p.Gln2069_Gln2076del)
|
rs773709991
|
|
NM_005120.3(MED12):c.6177ACAGCA[1] (p.Gln2075_Gln2076del)
|
rs753370104
|
|
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del)
|
rs767827315
|
|
NM_005120.3(MED12):c.6177_6194dup (p.Gln2076_Tyr2077insGlnGlnGlnGlnGlnGln)
|
|
|
NM_005120.3(MED12):c.6180_6182dup (p.Gln2076dup)
|
rs2147839452
|
|
NM_005120.3(MED12):c.6186GCA[3] (p.Gln2075_Gln2076del)
|
rs754533796
|
|
NM_005120.3(MED12):c.6186GCA[4] (p.Gln2076del)
|
|
|
NM_005120.3(MED12):c.6207_6218dup (p.Gln2076_Tyr2077insGlnGlnGlnGln)
|
|
|
NM_005120.3(MED12):c.6239G>A (p.Arg2080Gln)
|
rs1602306967
|
|
NM_005120.3(MED12):c.6239_6247dup (p.Gln2082_Gln2083insArgGlnGln)
|
|
|
NM_005120.3(MED12):c.6241CAG[4] (p.Gln2085_Gln2086del)
|
rs786200971
|
|
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del)
|
rs786200971
|
|
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup)
|
rs786200971
|
|
NM_005120.3(MED12):c.6241CAG[8] (p.Gln2085_Gln2086dup)
|
rs786200971
|
|
NM_005120.3(MED12):c.6266G>A (p.Arg2089Gln)
|
rs1001050248
|
|
NM_005120.3(MED12):c.6267+3A>C
|
rs2092345559
|
|
NM_005120.3(MED12):c.6268-3T>C
|
|
|
NM_005120.3(MED12):c.6274C>A (p.Gln2092Lys)
|
|
|
NM_005120.3(MED12):c.6279ACAGCA[1] (p.Gln2114_Gln2115del)
|
|
|
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup)
|
rs761195801
|
|
NM_005120.3(MED12):c.6279_6290del (p.Gln2112_Gln2115del)
|
|
|
NM_005120.3(MED12):c.6288GCA[11] (p.Gln2115_His2116insGlnGlnGlnGln)
|
|
|
NM_005120.3(MED12):c.6288GCA[4] (p.Gln2113_Gln2115del)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[6] (p.Gln2115del)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[8] (p.Gln2115dup)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup)
|
rs766775649
|
|
NM_005120.3(MED12):c.628G>C (p.Ala210Pro)
|
rs1379201163
|
|
NM_005120.3(MED12):c.6297GCAGCAGCAGCAACAGCAACA[3] (p.Gln2109_Gln2115dup)
|
rs1425637621
|
|
NM_005120.3(MED12):c.6300_6314dup (p.Gln2111_Gln2115dup)
|
rs2092346839
|
|
NM_005120.3(MED12):c.6309ACAGCA[1] (p.Gln2114_Gln2115del)
|
rs764789036
|
|
NM_005120.3(MED12):c.6309ACAGCA[3] (p.Gln2114_Gln2115dup)
|
rs764789036
|
|
NM_005120.3(MED12):c.6309_6323dup (p.Gln2115_His2116insGlnGlnGlnGlnGln)
|
|
|
NM_005120.3(MED12):c.6309_6326dup (p.Gln2110_Gln2115dup)
|
rs2147841816
|
|
NM_005120.3(MED12):c.6312_6338del (p.Gln2107_Gln2115del)
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NM_005120.3(MED12):c.6318GCA[6] (p.Gln2115_His2116insGlnGln)
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NM_005120.3(MED12):c.6318_6347del (p.Gln2106_Gln2115del)
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NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del)
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rs727503869
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NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del)
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rs1353930135
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NM_005120.3(MED12):c.6336_6362dup (p.Gln2123_Ala2124insGlnHisGlnGlnGlnGlnGlnGlnGln)
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NM_005120.3(MED12):c.6352CAGCAACAG[3] (p.Gln2121_Gln2123dup)
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rs1433422316
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NM_005120.3(MED12):c.6360G>C (p.Gln2120His)
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NM_005120.3(MED12):c.6371C>T (p.Ala2124Val)
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NM_005120.3(MED12):c.6386C>G (p.Pro2129Arg)
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NM_005120.3(MED12):c.6397_6408delTCCCAGCCCCAG (p.Ser2133_Gln2136del)
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NM_005120.3(MED12):c.6408+16C>T
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rs1057522248
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NM_005120.3(MED12):c.6416_6439del (p.Arg2139_Gln2146del)
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NM_005120.3(MED12):c.6472C>A (p.Leu2158Ile)
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rs2147844978
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NM_005120.3(MED12):c.6479A>G (p.Gln2160Arg)
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NM_005120.3(MED12):c.647G>T (p.Gly216Val)
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rs2092288219
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NM_005120.3(MED12):c.6488C>G (p.Ser2163Cys)
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NM_005120.3(MED12):c.6490+6C>T
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rs2147845031
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NM_005120.3(MED12):c.6506C>A (p.Pro2169His)
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NM_005120.3(MED12):c.6509G>T (p.Ser2170Ile)
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NM_005120.3(MED12):c.6520T>A (p.Phe2174Ile)
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NM_005120.3(MED12):c.6529_6530delinsCT (p.Tyr2177Leu)
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rs2092350107
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NM_005120.3(MED12):c.658G>C (p.Gly220Arg)
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rs2147777706
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NM_005120.3(MED12):c.66C>A (p.Pro22=)
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rs2092281557
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NM_005120.3(MED12):c.691C>T (p.Arg231Trp)
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NM_005120.3(MED12):c.701A>G (p.Asp234Gly)
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NM_005120.3(MED12):c.706A>G (p.Thr236Ala)
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rs2147777907
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NM_005120.3(MED12):c.70G>A (p.Val24Ile)
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rs2092281566
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NM_005120.3(MED12):c.715C>G (p.Leu239Val)
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NM_005120.3(MED12):c.728T>C (p.Met243Thr)
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NM_005120.3(MED12):c.733C>A (p.Gln245Lys)
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NM_005120.3(MED12):c.735+13G>T
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NM_005120.3(MED12):c.736-3T>C
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rs2092288995
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NM_005120.3(MED12):c.823C>G (p.Leu275Val)
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rs2147778826
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NM_005120.3(MED12):c.846+3A>T
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NM_005120.3(MED12):c.85C>A (p.Pro29Thr)
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rs2147767136
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NM_005120.3(MED12):c.883C>T (p.Arg295Cys)
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NM_005120.3(MED12):c.884G>A (p.Arg295His)
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NM_005120.3(MED12):c.886C>T (p.Arg296Trp)
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NM_005120.3(MED12):c.89A>G (p.Lys30Arg)
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rs2147767167
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NM_005120.3(MED12):c.907C>T (p.Arg303Trp)
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NM_005120.3(MED12):c.908G>A (p.Arg303Gln)
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NM_005120.3(MED12):c.919C>G (p.Leu307Val)
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NM_005120.3(MED12):c.934G>A (p.Val312Met)
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rs377403264
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NM_005120.3(MED12):c.938G>A (p.Ser313Asn)
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rs1317622485
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NM_005120.3(MED12):c.941G>A (p.Ser314Asn)
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NM_005120.3(MED12):c.959T>C (p.Ile320Thr)
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NM_005120.3(MED12):c.965C>T (p.Ala322Val)
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rs2092289745
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NM_005120.3(MED12):c.968A>C (p.Gln323Pro)
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NM_005120.3(MED12):c.988A>C (p.Thr330Pro)
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rs2147780054
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NM_005120.3(MED12):c.99G>A (p.Glu33=)
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