基因名 突变
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17281235G>A,c.3328G>A,p.V1110M
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17279950C>A,c.3160C>A,p.L1054I
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17279899G>C,c.3109G>C,p.E1037Q
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17275337C>T,c.2752C>T,p.R918W
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17275018C>A,c.2707C>A,p.R903S
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17274980G>A,c.2669G>A,p.R890H
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17273443C>T,c.2471C>T,p.T824M
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17273397C>T,c.2425C>T,p.R809X
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17273371C>T,c.2399C>T,p.A800V
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17272769G>A,c.2152G>A,p.V718M
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17272767G>A,c.2150G>A,p.R717H
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17272037G>A,c.2072G>A,p.R691H
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17271989G>A,c.2024G>A,p.R675H
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17270750C>T,c.1964C>T,p.A655V
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17270749G>A,c.1963G>A,p.A655T
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17270696G>A,c.1910G>A,p.R637Q
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17270678C>T,c.1892C>T,p.A631V
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17270653C>T,c.1867C>T,p.R623W
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17266586C>A,c.1806C>A,p.S602R
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17266536G>C,c.1756G>C,p.D586H
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17266533G>A,c.1753G>A,p.E585K
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17266501G>A,c.1721G>A,p.R574Q
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17265567C>T,c.1538C>T,p.P513L
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17265560C>T,c.1531C>T,p.P511S
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17265507C>T,c.1478C>T,p.P493L
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17265472C>G,c.1443C>G,p.N481K
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17265416G>T,c.1387G>T,p.D463Y
CROCC(NM_014675,ciliary rootlet coiled-coil, rootletin,2017aa) g.1:17264920C>T,c.1316C>T,p.A439V
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