基因名 |
突变 |
STUB1(NM_005861,STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase,303aa) |
g.16:731512A>C,c.433A>C,p.K145Q |
STUB1(NM_005861,STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase,303aa) |
g.16:731318G>A,c.326G>A,p.S109N |
STUB1(NM_005861,STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase,303aa) |
g.16:730668G>A,c.143G>A,p.C48Y |
STT3B(NM_178862,STT3B, subunit of the oligosaccharyltransferase complex (catalytic),826aa) |
g.3:31658564A>G,c.1120A>G,p.T374A |
STT3B(NM_178862,STT3B, subunit of the oligosaccharyltransferase complex (catalytic),826aa) |
g.3:31656614A>G,c.895A>G,p.I299V |
STT3A(NM_001278503,STT3A, subunit of the oligosaccharyltransferase complex (catalytic),705aa) |
g.11:125489908C>T,c.1966C>T,p.R656C |
STT3A(NM_001278503,STT3A, subunit of the oligosaccharyltransferase complex (catalytic),705aa) |
g.11:125483986C>T,c.1559C>T,p.A520V |
STS(NM_000351,steroid sulfatase (microsomal), isozyme S,583aa) |
g.X:7268042G>A,c.1492G>A,p.D498N |
STS(NM_000351,steroid sulfatase (microsomal), isozyme S,583aa) |
g.X:7267976G>A,c.1426G>A,p.V476M |
STS(NM_000351,steroid sulfatase (microsomal), isozyme S,583aa) |
g.X:7252077G>A,c.1307G>A,p.R436H |
STS(NM_000351,steroid sulfatase (microsomal), isozyme S,583aa) |
g.X:7243431G>A,c.1148G>A,p.R383H |
STS(NM_000351,steroid sulfatase (microsomal), isozyme S,583aa) |
g.X:7243422G>C,c.1139G>C,p.G380A |
STS(NM_000351,steroid sulfatase (microsomal), isozyme S,583aa) |
g.X:7194113A>T,c.943A>T,p.M315L |
STS(NM_000351,steroid sulfatase (microsomal), isozyme S,583aa) |
g.X:7194104G>C,c.934G>C,p.V312L |
STS(NM_000351,steroid sulfatase (microsomal), isozyme S,583aa) |
g.X:7177455G>A,c.463G>A,p.G155S |
STS(NM_000351,steroid sulfatase (microsomal), isozyme S,583aa) |
g.X:7177443C>G,c.451C>G,p.P151A |
STS(NM_000351,steroid sulfatase (microsomal), isozyme S,583aa) |
g.X:7171310A>G,c.85A>G,p.I29V |
STS(NM_000351,steroid sulfatase (microsomal), isozyme S,583aa) |
g.X:7171292G>A,c.67G>A,p.A23T |
STRN(NM_003162,striatin, calmodulin binding protein,780aa) |
g.2:37126766T>C,c.695A>G,p.D232G |
STRN(NM_003162,striatin, calmodulin binding protein,780aa) |
g.2:37111123G>A,c.1138C>T,p.P380S |
STRN(NM_003162,striatin, calmodulin binding protein,780aa) |
g.2:37105041G>A,c.1316C>T,p.T439I |
STRN(NM_003162,striatin, calmodulin binding protein,780aa) |
g.2:37088298T>C,c.1646A>G,p.N549S |
STRN(NM_003162,striatin, calmodulin binding protein,780aa) |
g.2:37082450C>G,c.1883G>C,p.S628T |
STRN4(NM_001039877,striatin, calmodulin binding protein 4,760aa) |
g.19:47236438C>T,c.595G>A,p.V199I |
STRN4(NM_001039877,striatin, calmodulin binding protein 4,760aa) |
g.19:47236336C>T,c.697G>A,p.E233K |
STRN4(NM_001039877,striatin, calmodulin binding protein 4,760aa) |
g.19:47231259G>A,c.1045C>T,p.R349C |
STRN4(NM_001039877,striatin, calmodulin binding protein 4,760aa) |
g.19:47230801C>T,c.1177G>A,p.V393I |
STRN4(NM_001039877,striatin, calmodulin binding protein 4,760aa) |
g.19:47226434C>T,c.1723G>A,p.V575I |