基因名 突变
SSBP1(NM_001256510,single-stranded DNA binding protein 1, mitochondrial,148aa) g.7:141441981T>C,c.37T>C,p.F13L
SSBP1(NM_001256510,single-stranded DNA binding protein 1, mitochondrial,148aa) g.7:141441976G>A,c.32G>A,p.R11H
SSB(NM_003142,Sjogren syndrome antigen B (autoantigen La),408aa) g.2:170667798A>G,c.1103A>G,p.D368G
SSB(NM_003142,Sjogren syndrome antigen B (autoantigen La),408aa) g.2:170665393T>C,c.650T>C,p.L217S
SS18(NM_001007559,synovial sarcoma translocation, chromosome 18,418aa) g.18:23637705G>A,c.233C>T,p.P78L
SS18(NM_001007559,synovial sarcoma translocation, chromosome 18,418aa) g.18:23637640G>A,c.298C>T,p.R100C
SS18(NM_001007559,synovial sarcoma translocation, chromosome 18,418aa) g.18:23612484C>G,c.1109G>C,p.G370A
SS18L1(NM_198935,synovial sarcoma translocation gene on chromosome 18-like 1,396aa) g.20:60747782G>A,c.961G>A,p.A321T
SS18L1(NM_198935,synovial sarcoma translocation gene on chromosome 18-like 1,396aa) g.20:60736519C>T,c.259C>T,p.P87S
SRXN1(NM_080725,sulfiredoxin 1,137aa) g.20:633682T>C,c.148A>G,p.I50V
SRSF9(NM_003769,serine/arginine-rich splicing factor 9,221aa) g.12:120907317G>T,c.96C>A,p.D32E
SRSF9(NM_003769,serine/arginine-rich splicing factor 9,221aa) g.12:120907309T>A,c.104A>T,p.Y35F
SRSF6(NM_006275,serine/arginine-rich splicing factor 6,344aa) g.20:42089605C>T,c.937C>T,p.R313C
SRSF6(NM_006275,serine/arginine-rich splicing factor 6,344aa) g.20:42089486G>A,c.818G>A,p.R273Q
SRSF6(NM_006275,serine/arginine-rich splicing factor 6,344aa) g.20:42089237C>T,c.673C>T,p.R225C
SRSF5(NM_001039465,serine/arginine-rich splicing factor 5,272aa) g.14:70238137C>T,c.778C>T,p.R260W
SRSF5(NM_001039465,serine/arginine-rich splicing factor 5,272aa) g.14:70238062G>A,c.703G>A,p.V235M
SRSF4(NM_005626,serine/arginine-rich splicing factor 4,494aa) g.1:29476700G>A,c.583C>T,p.R195C
SRSF4(NM_005626,serine/arginine-rich splicing factor 4,494aa) g.1:29475685C>T,c.722G>A,p.R241Q
SRSF4(NM_005626,serine/arginine-rich splicing factor 4,494aa) g.1:29475648T>G,c.759A>C,p.E253D
SRSF4(NM_005626,serine/arginine-rich splicing factor 4,494aa) g.1:29475394C>G,c.1013G>C,p.G338A
SRSF4(NM_005626,serine/arginine-rich splicing factor 4,494aa) g.1:29475341C>T,c.1066G>A,p.G356S
SRSF4(NM_005626,serine/arginine-rich splicing factor 4,494aa) g.1:29475308G>A,c.1099C>T,p.R367C
SRSF4(NM_005626,serine/arginine-rich splicing factor 4,494aa) g.1:29475221T>C,c.1186A>G,p.K396E
SRSF1(NM_001078166,serine/arginine-rich splicing factor 1,201aa) g.17:56083118T>C,c.596A>G,p.Q199R
SRSF12(NM_080743,serine/arginine-rich splicing factor 12,261aa) g.6:89816897C>T,c.146G>A,p.R49H
SRSF12(NM_080743,serine/arginine-rich splicing factor 12,261aa) g.6:89808547C>T,c.536G>A,p.R179Q
SRSF12(NM_080743,serine/arginine-rich splicing factor 12,261aa) g.6:89808481T>C,c.602A>G,p.Q201R
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