基因名 |
突变 |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:110003046A>G,c.8T>C,p.M3T |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:110003036G>C,c.18C>G,p.N6K |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:110002974T>C,c.80A>G,p.K27R |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:109973945G>A,c.455C>T,p.A152V |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:109963510A>C,c.573T>G,p.H191Q |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:109961013T>G,c.723A>C,p.R241S |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:109954205T>C,c.827A>G,p.Q276R |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:109954164C>T,c.868G>A,p.V290I |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:109940905del,c.1181del,p.394fs |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:109904177G>A,c.1426C>T,p.R476X |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:109904162T>C,c.1441A>G,p.I481V |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:109904158T>C,c.1445A>G,p.N482S |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:109760586A>C,c.1735T>G,p.F579V |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:109760534A>G,c.1787T>C,p.I596T |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:109756436G>A,c.1819C>T,p.R607X |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:109756435C>T,c.1820G>A,p.R607Q |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:109756330T>C,c.1925A>G,p.H642R |
TMEM232(NM_001039763,transmembrane protein 232,657aa) |
g.5:109756315G>T,c.1940C>A,p.P647H |
TMEM231(NM_001077416,transmembrane protein 231,369aa) |
g.16:75590092G>C,c.78C>G,p.S26R |
TMEM231(NM_001077416,transmembrane protein 231,369aa) |
g.16:75589922G>T,c.248C>A,p.S83X |
TMEM231(NM_001077416,transmembrane protein 231,369aa) |
g.16:75589899G>C,c.271C>G,p.R91G |
TMEM231(NM_001077416,transmembrane protein 231,369aa) |
g.16:75589886G>A,c.284C>T,p.A95V |
TMEM231(NM_001077416,transmembrane protein 231,369aa) |
g.16:75576580A>G,c.743T>C,p.I248T |
TMEM231(NM_001077416,transmembrane protein 231,369aa) |
g.16:75575308C>G,c.869G>C,p.R290T |
TMEM231(NM_001077416,transmembrane protein 231,369aa) |
g.16:75574052T>G,c.950A>C,p.E317A |
TMEM230(NM_001009924,transmembrane protein 230,120aa) |
g.20:5090075A>G,c.2T>C,p.M1T |
TMEM230(NM_001009924,transmembrane protein 230,120aa) |
g.20:5086870T>C,c.186A>G,p.I62M |
TMEM230(NM_001009924,transmembrane protein 230,120aa) |
g.20:5081502C>T,c.298G>A,p.A100T |