基因名 突变
DAG1(NM_001165928,dystroglycan 1 (dystrophin-associated glycoprotein 1),895aa) g.3:49569737G>C,c.1793G>C,p.R598P
DAG1(NM_001165928,dystroglycan 1 (dystrophin-associated glycoprotein 1),895aa) g.3:49569701C>T,c.1757C>T,p.S586L
DAG1(NM_001165928,dystroglycan 1 (dystrophin-associated glycoprotein 1),895aa) g.3:49569634C>A,c.1690C>A,p.L564I
DAG1(NM_001165928,dystroglycan 1 (dystrophin-associated glycoprotein 1),895aa) g.3:49569415G>A,c.1471G>A,p.G491R
DAG1(NM_001165928,dystroglycan 1 (dystrophin-associated glycoprotein 1),895aa) g.3:49568797G>A,c.853G>A,p.A285T
DAG1(NM_001165928,dystroglycan 1 (dystrophin-associated glycoprotein 1),895aa) g.3:49568543C>G,c.599C>G,p.T200S
DAG1(NM_001165928,dystroglycan 1 (dystrophin-associated glycoprotein 1),895aa) g.3:49568479T>A,c.535T>A,p.S179T
DAG1(NM_001165928,dystroglycan 1 (dystrophin-associated glycoprotein 1),895aa) g.3:49568275G>A,c.331G>A,p.D111N
DAG1(NM_001165928,dystroglycan 1 (dystrophin-associated glycoprotein 1),895aa) g.3:49568237C>T,c.293C>T,p.A98V
DAG1(NM_001165928,dystroglycan 1 (dystrophin-associated glycoprotein 1),895aa) g.3:49548226A>G,c.259A>G,p.I87V
DAG1(NM_001165928,dystroglycan 1 (dystrophin-associated glycoprotein 1),895aa) g.3:49548225G>C,c.258G>C,p.L86F
DAG1(NM_001165928,dystroglycan 1 (dystrophin-associated glycoprotein 1),895aa) g.3:49548187G>A,c.220G>A,p.V74I
DAG1(NM_001165928,dystroglycan 1 (dystrophin-associated glycoprotein 1),895aa) g.3:49548127C>G,c.160C>G,p.L54V
DAG1(NM_001165928,dystroglycan 1 (dystrophin-associated glycoprotein 1),895aa) g.3:49548008C>G,c.41C>G,p.S14W
DAD1(NM_001344,defender against cell death 1,113aa) g.14:23057945A>G,c.119T>C,p.L40P
DACT3(NM_145056,dishevelled-binding antagonist of beta-catenin 3,629aa) g.19:47152827G>T,c.802C>A,p.P268T
DACT2(NM_214462,dishevelled-binding antagonist of beta-catenin 2,774aa) g.6:168720097C>A,c.217G>T,p.A73S
DACT2(NM_214462,dishevelled-binding antagonist of beta-catenin 2,774aa) g.6:168711961G>A,c.250C>T,p.R84W
DACT2(NM_214462,dishevelled-binding antagonist of beta-catenin 2,774aa) g.6:168710977G>A,c.529C>T,p.R177W
DACT2(NM_214462,dishevelled-binding antagonist of beta-catenin 2,774aa) g.6:168709764C>A,c.673G>T,p.A225S
DACT2(NM_214462,dishevelled-binding antagonist of beta-catenin 2,774aa) g.6:168709754G>A,c.683C>T,p.A228V
DACT2(NM_214462,dishevelled-binding antagonist of beta-catenin 2,774aa) g.6:168709728C>T,c.709G>A,p.A237T
DACT2(NM_214462,dishevelled-binding antagonist of beta-catenin 2,774aa) g.6:168709634C>T,c.803G>A,p.G268D
DACT2(NM_214462,dishevelled-binding antagonist of beta-catenin 2,774aa) g.6:168709623C>A,c.814G>T,p.V272L
DACT2(NM_214462,dishevelled-binding antagonist of beta-catenin 2,774aa) g.6:168709385T>C,c.1052A>G,p.E351G
DACT2(NM_214462,dishevelled-binding antagonist of beta-catenin 2,774aa) g.6:168709385del,c.1052del,p.351fs
DACT2(NM_214462,dishevelled-binding antagonist of beta-catenin 2,774aa) g.6:168709234_168709235insCCCCTGCCGGCA,c.1202_1203insTGCCGGCAGGGG,p.401ins4aa
DACT2(NM_214462,dishevelled-binding antagonist of beta-catenin 2,774aa) g.6:168709209G>C,c.1228C>G,p.P410A
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org