基因名 突变
GYPB(NM_002100,glycophorin B (MNS blood group),91aa) g.4:144922436T>G,c.38A>C,p.E13A
GYPB(NM_002100,glycophorin B (MNS blood group),91aa) g.4:144922409G>C,c.65C>G,p.T22S
GYPB(NM_002100,glycophorin B (MNS blood group),91aa) g.4:144920596G>A,c.143C>T,p.T48M
GYPB(NM_002100,glycophorin B (MNS blood group),91aa) g.4:144920566G>C,c.173C>G,p.P58R
GYPB(NM_002100,glycophorin B (MNS blood group),91aa) g.4:144918712C>G,c.251G>C,p.S84T
GYPB(NM_002100,glycophorin B (MNS blood group),91aa) g.4:144918703C>T,c.260G>A,p.R87Q
GYPA(NM_002099,glycophorin A (MNS blood group),150aa) g.4:145041741T>G,c.38A>C,p.E13A
GYPA(NM_002099,glycophorin A (MNS blood group),150aa) g.4:145041720A>G,c.59T>C,p.L20S
GYPA(NM_002099,glycophorin A (MNS blood group),150aa) g.4:145041708T>C,c.71A>G,p.E24G
GYPA(NM_002099,glycophorin A (MNS blood group),150aa) g.4:145041707C>A,c.72G>T,p.E24D
GYPA(NM_002099,glycophorin A (MNS blood group),150aa) g.4:145040841G>A,c.230C>T,p.T77I
GYPA(NM_002099,glycophorin A (MNS blood group),150aa) g.4:145038027C>T,c.337G>A,p.G113S
GYPA(NM_002099,glycophorin A (MNS blood group),150aa) g.4:145035851C>T,c.427G>A,p.E143K
GYLTL1B(NM_152312,glycosyltransferase-like 1B,721aa) g.11:45950388C>T,c.2158C>T,p.R720X
GYLTL1B(NM_152312,glycosyltransferase-like 1B,721aa) g.11:45950326G>A,c.2096G>A,p.R699H
GYLTL1B(NM_152312,glycosyltransferase-like 1B,721aa) g.11:45950277C>T,c.2047C>T,p.R683C
GYLTL1B(NM_152312,glycosyltransferase-like 1B,721aa) g.11:45950259C>T,c.2029C>T,p.R677C
GYLTL1B(NM_152312,glycosyltransferase-like 1B,721aa) g.11:45949502C>T,c.1636C>T,p.R546W
GYLTL1B(NM_152312,glycosyltransferase-like 1B,721aa) g.11:45949054G>A,c.1514G>A,p.R505H
GYLTL1B(NM_152312,glycosyltransferase-like 1B,721aa) g.11:45949008C>G,c.1468C>G,p.H490D
GYLTL1B(NM_152312,glycosyltransferase-like 1B,721aa) g.11:45948955T>G,c.1415T>G,p.L472R
GYLTL1B(NM_152312,glycosyltransferase-like 1B,721aa) g.11:45948889G>A,c.1349G>A,p.C450Y
GYLTL1B(NM_152312,glycosyltransferase-like 1B,721aa) g.11:45947785G>A,c.895G>A,p.A299T
GYLTL1B(NM_152312,glycosyltransferase-like 1B,721aa) g.11:45946196C>T,c.632C>T,p.S211L
GYLTL1B(NM_152312,glycosyltransferase-like 1B,721aa) g.11:45945812A>G,c.476A>G,p.H159R
GYLTL1B(NM_152312,glycosyltransferase-like 1B,721aa) g.11:45945797G>A,c.461G>A,p.R154H
GYLTL1B(NM_152312,glycosyltransferase-like 1B,721aa) g.11:45944554C>G,c.121C>G,p.R41G
GYG2(NM_003918,glycogenin 2,501aa) g.X:2799118A>G,c.1370A>G,p.Q457R
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