基因名 |
突变 |
TMEM38B(NM_018112,transmembrane protein 38B,291aa) |
g.9:108484853G>C,c.493G>C,p.V165L |
TMEM38B(NM_018112,transmembrane protein 38B,291aa) |
g.9:108484850T>A,c.490T>A,p.L164M |
TMEM38B(NM_018112,transmembrane protein 38B,291aa) |
g.9:108467928A>G,c.163A>G,p.M55V |
TMEM38A(NM_024074,transmembrane protein 38A,299aa) |
g.19:16799060G>A,c.778G>A,p.D260N |
TMEM38A(NM_024074,transmembrane protein 38A,299aa) |
g.19:16799021G>A,c.739G>A,p.V247M |
TMEM38A(NM_024074,transmembrane protein 38A,299aa) |
g.19:16791247G>C,c.321G>C,p.K107N |
TMEM38A(NM_024074,transmembrane protein 38A,299aa) |
g.19:16772042C>T,c.14C>T,p.S5L |
TMEM37(NM_183240,transmembrane protein 37,190aa) |
g.2:120194861G>A,c.418G>A,p.G140S |
TMEM37(NM_183240,transmembrane protein 37,190aa) |
g.2:120194744G>T,c.301G>T,p.A101S |
TMEM37(NM_183240,transmembrane protein 37,190aa) |
g.2:120194673G>A,c.230G>A,p.G77D |
TMEM37(NM_183240,transmembrane protein 37,190aa) |
g.2:120194652C>G,c.209C>G,p.T70R |
TMEM37(NM_183240,transmembrane protein 37,190aa) |
g.2:120194651A>C,c.208A>C,p.T70P |
TMEM37(NM_183240,transmembrane protein 37,190aa) |
g.2:120194651_120194652insGTGTGC,c.208_209insGTGTGC,p.70ins2aa |
TMEM37(NM_183240,transmembrane protein 37,190aa) |
g.2:120194495C>T,c.52C>T,p.R18C |
TMEM37(NM_183240,transmembrane protein 37,190aa) |
g.2:120194492C>A,c.49C>A,p.P17T |
TMEM33(NM_018126,transmembrane protein 33,247aa) |
g.4:41956181G>A,c.709G>A,p.A237T |
TMEM31(NM_182541,transmembrane protein 31,168aa) |
g.X:102968656G>T,c.237G>T,p.E79D |
TMEM30B(NM_001017970,transmembrane protein 30B,351aa) |
g.14:61747708A>T,c.158T>A,p.L53H |
TMEM30B(NM_001017970,transmembrane protein 30B,351aa) |
g.14:61747594G>A,c.272C>T,p.P91L |
TMEM30B(NM_001017970,transmembrane protein 30B,351aa) |
g.14:61747119G>C,c.747C>G,p.D249E |
TMEM30B(NM_001017970,transmembrane protein 30B,351aa) |
g.14:61746823T>A,c.1043A>T,p.D348V |
TMEM30A(NM_018247,transmembrane protein 30A,361aa) |
g.6:75994300G>C,c.55C>G,p.P19A |
TMEM30A(NM_018247,transmembrane protein 30A,361aa) |
g.6:75969145C>G,c.603G>C,p.K201N |
TMEM2(NM_013390,transmembrane protein 2,1383aa) |
g.9:74365261G>T,c.29C>A,p.S10Y |
TMEM2(NM_013390,transmembrane protein 2,1383aa) |
g.9:74365109C>T,c.181G>A,p.A61T |
TMEM2(NM_013390,transmembrane protein 2,1383aa) |
g.9:74360477T>A,c.491A>T,p.D164V |
TMEM2(NM_013390,transmembrane protein 2,1383aa) |
g.9:74360234C>T,c.734G>A,p.R245K |
TMEM2(NM_013390,transmembrane protein 2,1383aa) |
g.9:74360096C>T,c.872G>A,p.R291H |