基因名 突变
MN1(NM_002430,meningioma (disrupted in balanced translocation) 1,1320aa) g.22:28194749C>T,c.1783G>A,p.V595M
MN1(NM_002430,meningioma (disrupted in balanced translocation) 1,1320aa) g.22:28192982C>G,c.3550G>C,p.E1184Q
MMS22L(NM_198468,MMS22-like, DNA repair protein,1243aa) g.6:97720648A>G,c.538T>C,p.Y180H
MMS22L(NM_198468,MMS22-like, DNA repair protein,1243aa) g.6:97717794C>T,c.681G>A,p.M227I
MMS22L(NM_198468,MMS22-like, DNA repair protein,1243aa) g.6:97681784T>C,c.1255A>G,p.N419D
MMS22L(NM_198468,MMS22-like, DNA repair protein,1243aa) g.6:97679326T>A,c.1505A>T,p.H502L
MMS22L(NM_198468,MMS22-like, DNA repair protein,1243aa) g.6:97677118G>A,c.1691C>T,p.T564M
MMS22L(NM_198468,MMS22-like, DNA repair protein,1243aa) g.6:97626374A>G,c.2624T>C,p.V875A
MMS22L(NM_198468,MMS22-like, DNA repair protein,1243aa) g.6:97621047T>C,c.2731A>G,p.M911V
MMS22L(NM_198468,MMS22-like, DNA repair protein,1243aa) g.6:97616054G>A,c.2902C>T,p.R968W
MMS22L(NM_198468,MMS22-like, DNA repair protein,1243aa) g.6:97613299G>A,c.3044C>T,p.P1015L
MMS22L(NM_198468,MMS22-like, DNA repair protein,1243aa) g.6:97609932C>T,c.3331G>A,p.E1111K
MMS22L(NM_198468,MMS22-like, DNA repair protein,1243aa) g.6:97599674G>A,c.3455C>T,p.P1152L
MMS19(NM_022362,MMS19 nucleotide excision repair homolog (S. cerevisiae),1030aa) g.10:99243880T>G,c.141A>C,p.L47F
MMS19(NM_022362,MMS19 nucleotide excision repair homolog (S. cerevisiae),1030aa) g.10:99240758G>C,c.203C>G,p.A68G
MMS19(NM_022362,MMS19 nucleotide excision repair homolog (S. cerevisiae),1030aa) g.10:99236625C>T,c.589G>A,p.V197I
MMS19(NM_022362,MMS19 nucleotide excision repair homolog (S. cerevisiae),1030aa) g.10:99227333T>G,c.1226A>C,p.Q409P
MMS19(NM_022362,MMS19 nucleotide excision repair homolog (S. cerevisiae),1030aa) g.10:99226656G>C,c.1300C>G,p.Q434E
MMS19(NM_022362,MMS19 nucleotide excision repair homolog (S. cerevisiae),1030aa) g.10:99225846C>T,c.1576G>A,p.V526I
MMS19(NM_022362,MMS19 nucleotide excision repair homolog (S. cerevisiae),1030aa) g.10:99225645G>A,c.1673C>T,p.A558V
MMS19(NM_022362,MMS19 nucleotide excision repair homolog (S. cerevisiae),1030aa) g.10:99221826T>C,c.2063A>G,p.N688S
MMS19(NM_022362,MMS19 nucleotide excision repair homolog (S. cerevisiae),1030aa) g.10:99220707C>T,c.2369G>A,p.G790D
MMS19(NM_022362,MMS19 nucleotide excision repair homolog (S. cerevisiae),1030aa) g.10:99219865C>T,c.2594G>A,p.R865H
MMS19(NM_022362,MMS19 nucleotide excision repair homolog (S. cerevisiae),1030aa) g.10:99218456C>T,c.3086G>A,p.G1029D
MMRN2(NM_024756,multimerin 2,949aa) g.10:88717154C>T,c.145G>A,p.G49S
MMRN2(NM_024756,multimerin 2,949aa) g.10:88704156T>C,c.518A>G,p.Q173R
MMRN2(NM_024756,multimerin 2,949aa) g.10:88704129C>G,c.545G>C,p.G182A
MMRN2(NM_024756,multimerin 2,949aa) g.10:88703732C>T,c.809G>A,p.R270H
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