基因名 突变
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33772359C>T,c.341G>A,p.G114D
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33772329T>C,c.371A>G,p.N124S
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33772246C>T,c.454G>A,p.D152N
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33771996G>A,c.704C>T,p.S235F
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33771990A>G,c.710T>C,p.F237S
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33771704C>T,c.996G>A,p.M332I
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33770840T>A,c.1166A>T,p.H389L
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33769211C>T,c.1293G>A,p.M431I
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33769039G>A,c.1465C>T,p.R489C
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33769038C>A,c.1466G>T,p.R489L
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33768601G>T,c.1903C>A,p.P635T
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33768383T>A,c.1925A>T,p.D642V
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33768381T>C,c.1927A>G,p.R643G
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33768354C>T,c.1954G>A,p.E652K
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33768334T>G,c.1974A>C,p.K658N
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33768284G>A,c.2024C>T,p.T675I
SLFN13(NM_144682,schlafen family member 13,897aa) g.17:33768158del,c.2150del,p.717fs
SLFN12(NM_018042,schlafen family member 12,578aa) g.17:33749919A>C,c.129T>G,p.S43R
SLFN12(NM_018042,schlafen family member 12,578aa) g.17:33749831C>T,c.217G>A,p.D73N
SLFN12(NM_018042,schlafen family member 12,578aa) g.17:33749758A>G,c.290T>C,p.M97T
SLFN12(NM_018042,schlafen family member 12,578aa) g.17:33749659T>A,c.389A>T,p.D130V
SLFN12(NM_018042,schlafen family member 12,578aa) g.17:33749546A>G,c.502T>C,p.C168R
SLFN12(NM_018042,schlafen family member 12,578aa) g.17:33738752A>G,c.1342T>C,p.S448P
SLFN12(NM_018042,schlafen family member 12,578aa) g.17:33738463A>G,c.1631T>C,p.L544P
SLFN12L(NM_001195790,schlafen family member 12-like,588aa) g.17:33814758T>C,c.1A>G,p.M1V
SLFN12L(NM_001195790,schlafen family member 12-like,588aa) g.17:33806842del,c.387del,p.129fs
SLFN12L(NM_001195790,schlafen family member 12-like,588aa) g.17:33806644C>T,c.585G>A,p.M195I
SLFN12L(NM_001195790,schlafen family member 12-like,588aa) g.17:33806546G>A,c.683C>T,p.S228L
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