基因名 |
突变 |
TMEM143(NM_018273,transmembrane protein 143,459aa) |
g.19:48848505G>C,c.476C>G,p.P159R |
TMEM143(NM_018273,transmembrane protein 143,459aa) |
g.19:48846060G>C,c.702C>G,p.Y234X |
TMEM143(NM_018273,transmembrane protein 143,459aa) |
g.19:48845962G>A,c.800C>T,p.P267L |
TMEM143(NM_018273,transmembrane protein 143,459aa) |
g.19:48845944G>A,c.818C>T,p.T273M |
TMEM143(NM_018273,transmembrane protein 143,459aa) |
g.19:48837381T>C,c.1049A>G,p.N350S |
TMEM143(NM_018273,transmembrane protein 143,459aa) |
g.19:48836579G>A,c.1277C>T,p.P426L |
TMEM143(NM_018273,transmembrane protein 143,459aa) |
g.19:48836478_48836480del,c.1376_1378del,p.459_460del |
TMEM141(NM_032928,transmembrane protein 141,108aa) |
g.9:139686744T>G,c.247T>G,p.S83A |
TMEM141(NM_032928,transmembrane protein 141,108aa) |
g.9:139686439G>C,c.162G>C,p.R54S |
TMEM141(NM_032928,transmembrane protein 141,108aa) |
g.9:139686431A>T,c.154A>T,p.I52F |
TMEM141(NM_032928,transmembrane protein 141,108aa) |
g.9:139685842C>T,c.20C>T,p.S7F |
TMEM140(NM_018295,transmembrane protein 140,185aa) |
g.7:134849422C>T,c.229C>T,p.R77W |
TMEM140(NM_018295,transmembrane protein 140,185aa) |
g.7:134849284G>A,c.91G>A,p.A31T |
TMEM140(NM_018295,transmembrane protein 140,185aa) |
g.7:134849280T>A,c.87T>A,p.F29L |
TMEM140(NM_018295,transmembrane protein 140,185aa) |
g.7:134849213G>A,c.20G>A,p.R7Q |
TMEM140(NM_018295,transmembrane protein 140,185aa) |
g.7:134849209C>T,c.16C>T,p.P6S |
TMEM139(NM_001242774,transmembrane protein 139,216aa) |
g.7:142983834C>T,c.563C>T,p.P188L |
TMEM139(NM_001242774,transmembrane protein 139,216aa) |
g.7:142983743A>G,c.472A>G,p.R158G |
TMEM139(NM_001242774,transmembrane protein 139,216aa) |
g.7:142983705C>A,c.434C>A,p.A145D |
TMEM139(NM_001242774,transmembrane protein 139,216aa) |
g.7:142983699G>A,c.428G>A,p.R143Q |
TMEM139(NM_001242774,transmembrane protein 139,216aa) |
g.7:142983295G>A,c.245G>A,p.R82Q |
TMEM139(NM_001242774,transmembrane protein 139,216aa) |
g.7:142983219C>T,c.169C>T,p.R57W |
TMEM136(NM_001198670,transmembrane protein 136,267aa) |
g.11:120200914G>A,c.494G>A,p.R165H |
TMEM136(NM_001198670,transmembrane protein 136,267aa) |
g.11:120200849G>T,c.429G>T,p.E143D |
TMEM136(NM_001198670,transmembrane protein 136,267aa) |
g.11:120198203C>T,c.119C>T,p.S40L |
TMEM135(NM_022918,transmembrane protein 135,458aa) |
g.11:87032287G>C,c.1289G>C,p.G430A |
TMEM135(NM_022918,transmembrane protein 135,458aa) |
g.11:87017001G>A,c.722G>A,p.R241K |
TMEM135(NM_022918,transmembrane protein 135,458aa) |
g.11:87013438G>A,c.652G>A,p.G218R |