基因名 突变
WASH1(NM_182905,WAS protein family homolog 1,465aa) g.9:17060C>A,c.788G>T,p.S263I
WASH1(NM_182905,WAS protein family homolog 1,465aa) g.9:16967A>G,c.881T>C,p.V294A
WASH1(NM_182905,WAS protein family homolog 1,465aa) g.9:16020A>G,c.1084T>C,p.W362R
WASH1(NM_182905,WAS protein family homolog 1,465aa) g.9:15989G>C,c.1115C>G,p.A372G
WASH1(NM_182905,WAS protein family homolog 1,465aa) g.9:15978C>T,c.1126G>A,p.G376S
WASH1(NM_182905,WAS protein family homolog 1,465aa) g.9:14863A>C,c.1342T>G,p.L448V
WASH1(NM_182905,WAS protein family homolog 1,465aa) g.9:14816C>G,c.1389G>C,p.W463C
WASF3(NM_006646,WAS protein family, member 3,502aa) g.13:27257015A>G,c.1255A>G,p.M419V
WASF3(NM_006646,WAS protein family, member 3,502aa) g.13:27257004C>T,c.1244C>T,p.S415L
WASF3(NM_006646,WAS protein family, member 3,502aa) g.13:27256902C>G,c.1142C>G,p.A381G
WASF3(NM_006646,WAS protein family, member 3,502aa) g.13:27255402C>G,c.928C>G,p.P310A
WASF3(NM_006646,WAS protein family, member 3,502aa) g.13:27255394C>T,c.920C>T,p.P307L
WASF3(NM_006646,WAS protein family, member 3,502aa) g.13:27255211C>T,c.737C>T,p.T246M
WASF3(NM_006646,WAS protein family, member 3,502aa) g.13:27255207G>A,c.733G>A,p.V245I
WASF2(NM_006990,WAS protein family, member 2,498aa) g.1:27755340C>T,c.61G>A,p.V21I
WASF2(NM_006990,WAS protein family, member 2,498aa) g.1:27745500del,c.220del,p.74fs
WASF2(NM_006990,WAS protein family, member 2,498aa) g.1:27742573T>C,c.443A>G,p.K148R
WASF2(NM_006990,WAS protein family, member 2,498aa) g.1:27739150G>A,c.740C>T,p.P247L
WASF2(NM_006990,WAS protein family, member 2,498aa) g.1:27736692A>T,c.833T>A,p.V278E
WASF2(NM_006990,WAS protein family, member 2,498aa) g.1:27736685G>T,c.840C>A,p.N280K
WASF2(NM_006990,WAS protein family, member 2,498aa) g.1:27736488G>A,c.1037C>T,p.T346M
WASF2(NM_006990,WAS protein family, member 2,498aa) g.1:27736359C>T,c.1166G>A,p.G389E
WASF2(NM_006990,WAS protein family, member 2,498aa) g.1:27736269G>A,c.1256C>T,p.P419L
WASF1(NM_003931,WAS protein family, member 1,559aa) g.6:110422931G>A,c.1382C>T,p.T461I
WASF1(NM_003931,WAS protein family, member 1,559aa) g.6:110421829G>A,c.1576C>T,p.R526C
WARS(NM_004184,tryptophanyl-tRNA synthetase,471aa) g.14:100835498G>C,c.25C>G,p.L9V
WARS(NM_004184,tryptophanyl-tRNA synthetase,471aa) g.14:100828198C>A,c.160G>T,p.A54S
WARS(NM_004184,tryptophanyl-tRNA synthetase,471aa) g.14:100826974G>T,c.339C>A,p.D113E
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