| 基因名 | 突变 |
|---|---|
| RRP15(NM_016052,ribosomal RNA processing 15 homolog (S. cerevisiae),282aa) | g.1:218475847G>T,c.351G>T,p.K117N |
| RRP15(NM_016052,ribosomal RNA processing 15 homolog (S. cerevisiae),282aa) | g.1:218458753C>T,c.95C>T,p.A32V |
| RRP15(NM_016052,ribosomal RNA processing 15 homolog (S. cerevisiae),282aa) | g.1:218458675C>T,c.17C>T,p.P6L |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99153441C>T,c.530G>A,p.R177H |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99150199G>A,c.734C>T,p.T245M |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99148340C>A,c.795G>T,p.K265N |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99148272C>T,c.863G>A,p.C288Y |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99148260A>G,c.875T>C,p.I292T |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99148017T>G,c.1009A>C,p.S337R |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99145720G>A,c.1048C>T,p.H350Y |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99141506G>A,c.1286C>T,p.S429L |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99141192C>T,c.1369G>A,p.V457M |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99140570G>A,c.1519C>T,p.P507S |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99139511C>T,c.1550G>A,p.C517Y |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99139505A>T,c.1556T>A,p.L519Q |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99139475G>A,c.1586C>T,p.A529V |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99133604C>T,c.1846G>A,p.D616N |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99133398G>A,c.1960C>T,p.R654C |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99133362G>A,c.1996C>T,p.R666C |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99132509T>C,c.2233A>G,p.S745G |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99131901C>T,c.2272G>A,p.V758M |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99130826C>T,c.2356G>A,p.G786R |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99130256A>G,c.2645T>C,p.V882A |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99126557C>T,c.3157G>A,p.V1053M |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99126522_99126524del,c.3190_3192del,p.1064del |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99126521_99126522insCTCCTCCTCCTC,c.3192_3193insGAGGAGGAGGAG,p.1064_1065ins4aa |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99125949C>T,c.3433G>A,p.G1145S |
| RRP12(NM_015179,ribosomal RNA processing 12 homolog (S. cerevisiae),1297aa) | g.10:99125931C>T,c.3451G>A,p.D1151N |