| 基因名 | 突变 |
|---|---|
| RPTN(NM_001122965,repetin,784aa) | g.1:152128121G>A,c.1454C>T,p.S485F |
| RPTN(NM_001122965,repetin,784aa) | g.1:152127989T>C,c.1586A>G,p.Q529R |
| RPTN(NM_001122965,repetin,784aa) | g.1:152127455T>C,c.2120A>G,p.E707G |
| RPTN(NM_001122965,repetin,784aa) | g.1:152127372T>C,c.2203A>G,p.K735E |
| RPTN(NM_001122965,repetin,784aa) | g.1:152127354G>A,c.2221C>T,p.Q741X |
| RPTN(NM_001122965,repetin,784aa) | g.1:152127347C>T,c.2228G>A,p.R743Q |
| RPTN(NM_001122965,repetin,784aa) | g.1:152127272C>T,c.2303G>A,p.R768H |
| RPTN(NM_001122965,repetin,784aa) | g.1:152127222A>G,c.2353T>C,p.X785R |
| RPS6(NM_001010,ribosomal protein S6,249aa) | g.9:19378903C>T,c.152G>A,p.R51Q |
| RPS6(NM_001010,ribosomal protein S6,249aa) | g.9:19378402G>A,c.460C>T,p.R154C |
| RPS6KL1(NM_031464,ribosomal protein S6 kinase-like 1,549aa) | g.14:75388183C>T,c.62G>A,p.R21Q |
| RPS6KL1(NM_031464,ribosomal protein S6 kinase-like 1,549aa) | g.14:75388001C>T,c.244G>A,p.V82M |
| RPS6KL1(NM_031464,ribosomal protein S6 kinase-like 1,549aa) | g.14:75386576G>A,c.362C>T,p.P121L |
| RPS6KL1(NM_031464,ribosomal protein S6 kinase-like 1,549aa) | g.14:75386550C>T,c.388G>A,p.A130T |
| RPS6KL1(NM_031464,ribosomal protein S6 kinase-like 1,549aa) | g.14:75385230C>T,c.469G>A,p.G157R |
| RPS6KL1(NM_031464,ribosomal protein S6 kinase-like 1,549aa) | g.14:75378038T>G,c.577A>C,p.I193L |
| RPS6KL1(NM_031464,ribosomal protein S6 kinase-like 1,549aa) | g.14:75376810G>A,c.706C>T,p.R236X |
| RPS6KL1(NM_031464,ribosomal protein S6 kinase-like 1,549aa) | g.14:75376793G>C,c.723C>G,p.S241R |
| RPS6KL1(NM_031464,ribosomal protein S6 kinase-like 1,549aa) | g.14:75376687C>T,c.829G>A,p.A277T |
| RPS6KL1(NM_031464,ribosomal protein S6 kinase-like 1,549aa) | g.14:75376677G>A,c.839C>T,p.P280L |
| RPS6KL1(NM_031464,ribosomal protein S6 kinase-like 1,549aa) | g.14:75376501C>T,c.1015G>A,p.A339T |
| RPS6KL1(NM_031464,ribosomal protein S6 kinase-like 1,549aa) | g.14:75376462del,c.1054del,p.352fs |
| RPS6KL1(NM_031464,ribosomal protein S6 kinase-like 1,549aa) | g.14:75376345G>A,c.1171C>T,p.Q391X |
| RPS6KL1(NM_031464,ribosomal protein S6 kinase-like 1,549aa) | g.14:75375611G>A,c.1385C>T,p.T462M |
| RPS6KL1(NM_031464,ribosomal protein S6 kinase-like 1,549aa) | g.14:75375560G>A,c.1436C>T,p.T479M |
| RPS6KC1(NM_012424,ribosomal protein S6 kinase, 52kDa, polypeptide 1,1066aa) | g.1:213415395C>A,c.2576C>A,p.T859N |
| RPS6KC1(NM_012424,ribosomal protein S6 kinase, 52kDa, polypeptide 1,1066aa) | g.1:213415386A>G,c.2567A>G,p.E856G |
| RPS6KC1(NM_012424,ribosomal protein S6 kinase, 52kDa, polypeptide 1,1066aa) | g.1:213414543A>G,c.1724A>G,p.N575S |