基因名 突变
RCBTB2(NM_001268,regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2,551aa) g.13:49089456C>A,c.234G>T,p.L78F
RCBTB2(NM_001268,regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2,551aa) g.13:49089421C>T,c.269G>A,p.R90Q
RCBTB2(NM_001268,regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2,551aa) g.13:49076863C>T,c.1114G>A,p.V372M
RCBTB1(NM_018191,regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1,531aa) g.13:50141345G>A,c.71C>T,p.A24V
RCBTB1(NM_018191,regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1,531aa) g.13:50141330G>A,c.86C>T,p.T29I
RCBTB1(NM_018191,regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1,531aa) g.13:50140824T>G,c.207A>C,p.E69D
RCAN3(NM_013441,RCAN family member 3,241aa) g.1:24861748C>A,c.707C>A,p.T236N
RCAN3(NM_013441,RCAN family member 3,241aa) g.1:24861714G>A,c.673G>A,p.D225N
RCAN3(NM_013441,RCAN family member 3,241aa) g.1:24861709G>T,c.668G>T,p.R223L
RCAN3(NM_013441,RCAN family member 3,241aa) g.1:24859594C>T,c.391C>T,p.R131W
RCAN3(NM_013441,RCAN family member 3,241aa) g.1:24859585G>A,c.382G>A,p.G128S
RCAN3(NM_013441,RCAN family member 3,241aa) g.1:24840882A>G,c.20A>G,p.K7R
RCAN2(NM_005822,regulator of calcineurin 2,197aa) g.6:46190889C>A,c.583G>T,p.V195L
RCAN1(NM_004414,regulator of calcineurin 1,252aa) g.21:35987210G>T,c.101C>A,p.A34E
RCAN1(NM_004414,regulator of calcineurin 1,252aa) g.21:35893925G>A,c.458C>T,p.P153L
RC3H2(NM_001100588,ring finger and CCCH-type domains 2,1191aa) g.9:125659716C>T,c.73G>A,p.V25M
RC3H2(NM_001100588,ring finger and CCCH-type domains 2,1191aa) g.9:125620351T>C,c.2305A>G,p.T769A
RC3H1(NM_172071,ring finger and CCCH-type domains 1,1133aa) g.1:173961948G>A,c.176C>T,p.T59I
RC3H1(NM_172071,ring finger and CCCH-type domains 1,1133aa) g.1:173952711A>G,c.437T>C,p.V146A
RC3H1(NM_172071,ring finger and CCCH-type domains 1,1133aa) g.1:173915951C>T,c.2761G>A,p.G921S
RC3H1(NM_172071,ring finger and CCCH-type domains 1,1133aa) g.1:173915909G>C,c.2803C>G,p.P935A
RC3H1(NM_172071,ring finger and CCCH-type domains 1,1133aa) g.1:173907923G>A,c.3338C>T,p.P1113L
RBPMS(NM_006867,RNA binding protein with multiple splicing,196aa) g.8:30416431A>G,c.556A>G,p.T186A
RBPMS2(NM_194272,RNA binding protein with multiple splicing 2,209aa) g.15:65041211C>T,c.406G>A,p.A136T
RBPMS2(NM_194272,RNA binding protein with multiple splicing 2,209aa) g.15:65033392C>T,c.617G>A,p.R206H
RBPJ(NM_203284,recombination signal binding protein for immunoglobulin kappa J region,486aa) g.4:26426018C>G,c.548C>G,p.T183R
RBPJ(NM_203284,recombination signal binding protein for immunoglobulin kappa J region,486aa) g.4:26425973C>G,c.503C>G,p.A168G
RBPJ(NM_203284,recombination signal binding protein for immunoglobulin kappa J region,486aa) g.4:26417189A>G,c.245A>G,p.E82G
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