基因名 突变
SPATA12(NM_181727,spermatogenesis associated 12,190aa) g.3:57107910C>T,c.188C>T,p.A63V
SPAST(NM_014946,spastin,616aa) g.2:32379449A>C,c.1735A>C,p.N579H
SPAST(NM_014946,spastin,616aa) g.2:32340779G>A,c.879G>A,p.P293P
SPAST(NM_014946,spastin,616aa) g.2:32312644C>G,c.499C>G,p.Q167E
SPAST(NM_014946,spastin,616aa) g.2:32289031C>T,c.131C>T,p.S44L
SPARC(NM_003118,secreted protein, acidic, cysteine-rich (osteonectin),303aa) g.5:151052711C>T,c.187G>A,p.E63K
SPARC(NM_003118,secreted protein, acidic, cysteine-rich (osteonectin),303aa) g.5:151045999G>T,c.657C>A,p.D219E
SPARC(NM_003118,secreted protein, acidic, cysteine-rich (osteonectin),303aa) g.5:151045995C>T,c.661G>A,p.E221K
SPARC(NM_003118,secreted protein, acidic, cysteine-rich (osteonectin),303aa) g.5:151045923C>T,c.733G>A,p.G245R
SPARC(NM_003118,secreted protein, acidic, cysteine-rich (osteonectin),303aa) g.5:151043660C>T,c.871G>A,p.G291S
SPARCL1(NM_001128310,SPARC-like 1 (hevin),664aa) g.4:88416188G>T,c.146C>A,p.A49D
SPARCL1(NM_001128310,SPARC-like 1 (hevin),664aa) g.4:88415636G>C,c.316C>G,p.H106D
SPARCL1(NM_001128310,SPARC-like 1 (hevin),664aa) g.4:88415387C>T,c.565G>A,p.G189R
SPARCL1(NM_001128310,SPARC-like 1 (hevin),664aa) g.4:88415194A>T,c.758T>A,p.V253E
SPARCL1(NM_001128310,SPARC-like 1 (hevin),664aa) g.4:88415065T>C,c.887A>G,p.Q296R
SPARCL1(NM_001128310,SPARC-like 1 (hevin),664aa) g.4:88415038A>G,c.914T>C,p.I305T
SPARCL1(NM_001128310,SPARC-like 1 (hevin),664aa) g.4:88414795T>C,c.1157A>G,p.Q386R
SPARCL1(NM_001128310,SPARC-like 1 (hevin),664aa) g.4:88412806T>C,c.1255A>G,p.T419A
SPARCL1(NM_001128310,SPARC-like 1 (hevin),664aa) g.4:88400698C>T,c.1850G>A,p.R617Q
SPANXN4(NM_001009613,SPANX family, member N4,99aa) g.X:142121832G>A,c.100G>A,p.A34T
SPANXN3(NM_001009609,SPANX family, member N3,141aa) g.X:142605182G>C,c.38C>G,p.T13R
SPANXN3(NM_001009609,SPANX family, member N3,141aa) g.X:142596941C>G,c.129G>C,p.K43N
SPANXN3(NM_001009609,SPANX family, member N3,141aa) g.X:142596805C>T,c.265G>A,p.V89I
SPANXN2(NM_001009615,SPANX family, member N2,180aa) g.X:142803740G>A,c.23C>T,p.T8I
SPANXN2(NM_001009615,SPANX family, member N2,180aa) g.X:142795185C>T,c.493G>A,p.E165K
SPANXN1(NM_001009614,SPANX family, member N1,72aa) g.X:144337224G>A,c.109G>A,p.E37K
SPANXN1(NM_001009614,SPANX family, member N1,72aa) g.X:144337221C>T,c.106C>T,p.P36S
SPANXN1(NM_001009614,SPANX family, member N1,72aa) g.X:144337200A>G,c.85A>G,p.T29A
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