基因名 突变
CYP11B1(NM_000497,cytochrome P450, family 11, subfamily B, polypeptide 1,503aa) g.8:143961126A>G,c.104T>C,p.V35A
CYP11B1(NM_000497,cytochrome P450, family 11, subfamily B, polypeptide 1,503aa) g.8:143961102C>T,c.128G>A,p.R43Q
CYP11B1(NM_000497,cytochrome P450, family 11, subfamily B, polypeptide 1,503aa) g.8:143960551C>G,c.292G>C,p.E98Q
CYP11B1(NM_000497,cytochrome P450, family 11, subfamily B, polypeptide 1,503aa) g.8:143958593T>A,c.441A>T,p.E147D
CYP11B1(NM_000497,cytochrome P450, family 11, subfamily B, polypeptide 1,503aa) g.8:143958496C>T,c.538G>A,p.A180T
CYP11B1(NM_000497,cytochrome P450, family 11, subfamily B, polypeptide 1,503aa) g.8:143957293G>A,c.956C>T,p.T319M
CYP11B1(NM_000497,cytochrome P450, family 11, subfamily B, polypeptide 1,503aa) g.8:143957254C>T,c.995G>A,p.R332Q
CYP11B1(NM_000497,cytochrome P450, family 11, subfamily B, polypeptide 1,503aa) g.8:143957246T>C,c.1003A>G,p.N335D
CYP11B1(NM_000497,cytochrome P450, family 11, subfamily B, polypeptide 1,503aa) g.8:143957228G>A,c.1021C>T,p.R341C
CYP11B1(NM_000497,cytochrome P450, family 11, subfamily B, polypeptide 1,503aa) g.8:143957207C>T,c.1042G>A,p.A348T
CYP11B1(NM_000497,cytochrome P450, family 11, subfamily B, polypeptide 1,503aa) g.8:143957129G>T,c.1120C>A,p.R374R
CYP11B1(NM_000497,cytochrome P450, family 11, subfamily B, polypeptide 1,503aa) g.8:143956693G>A,c.1157C>T,p.A386V
CYP11B1(NM_000497,cytochrome P450, family 11, subfamily B, polypeptide 1,503aa) g.8:143956456A>G,c.1315T>C,p.Y439H
CYP11B1(NM_000497,cytochrome P450, family 11, subfamily B, polypeptide 1,503aa) g.8:143955850A>T,c.1451T>A,p.V484D
CYP11A1(NM_001099773,cytochrome P450, family 11, subfamily A, polypeptide 1,363aa) g.15:74636309T>G,c.176A>C,p.E59A
CYP11A1(NM_001099773,cytochrome P450, family 11, subfamily A, polypeptide 1,363aa) g.15:74631994T>C,c.617A>G,p.Q206R
CYP11A1(NM_001099773,cytochrome P450, family 11, subfamily A, polypeptide 1,363aa) g.15:74631619C>A,c.721G>T,p.V241L
CYLD(NM_015247,cylindromatosis (turban tumor syndrome),956aa) g.16:50813626C>A,c.1189C>A,p.R397S
CYLD(NM_015247,cylindromatosis (turban tumor syndrome),956aa) g.16:50785524C>T,c.514C>T,p.R172C
CYLC2(NM_001340,cylicin, basic protein of sperm head cytoskeleton 2,348aa) g.9:105779244G>A,c.*890+1G>A,p.3'UTRDonor
CYLC2(NM_001340,cylicin, basic protein of sperm head cytoskeleton 2,348aa) g.9:105767869C>A,c.956C>A,p.A319E
CYLC2(NM_001340,cylicin, basic protein of sperm head cytoskeleton 2,348aa) g.9:105767536G>A,c.623G>A,p.G208D
CYLC2(NM_001340,cylicin, basic protein of sperm head cytoskeleton 2,348aa) g.9:105767481A>G,c.568A>G,p.K190E
CYLC2(NM_001340,cylicin, basic protein of sperm head cytoskeleton 2,348aa) g.9:105767437C>T,c.524C>T,p.A175V
CYLC2(NM_001340,cylicin, basic protein of sperm head cytoskeleton 2,348aa) g.9:105767349G>T,c.436G>T,p.D146Y
CYLC2(NM_001340,cylicin, basic protein of sperm head cytoskeleton 2,348aa) g.9:105767283C>A,c.370C>A,p.Q124K
CYLC2(NM_001340,cylicin, basic protein of sperm head cytoskeleton 2,348aa) g.9:105767008G>A,c.212G>A,p.R71H
CYLC2(NM_001340,cylicin, basic protein of sperm head cytoskeleton 2,348aa) g.9:105765465G>A,c.100G>A,p.A34T
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