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 |