| 基因名 | 突变 |
|---|---|
| TNR(NM_003285,tenascin R,1358aa) | g.1:175355171T>C,c.1774A>G,p.T592A |
| TNR(NM_003285,tenascin R,1358aa) | g.1:175348723C>T,c.1928G>A,p.R643K |
| TNR(NM_003285,tenascin R,1358aa) | g.1:175336371C>T,c.2026G>A,p.V676M |
| TNR(NM_003285,tenascin R,1358aa) | g.1:175334409C>T,c.2324G>A,p.R775H |
| TNR(NM_003285,tenascin R,1358aa) | g.1:175325572C>T,c.3001G>A,p.G1001R |
| TNR(NM_003285,tenascin R,1358aa) | g.1:175299335C>T,c.3668G>A,p.R1223H |
| TNR(NM_003285,tenascin R,1358aa) | g.1:175293533T>A,c.3916A>T,p.T1306S |
| TNR(NM_003285,tenascin R,1358aa) | g.1:175292533C>T,c.4037G>A,p.R1346H |
| TNR(NM_003285,tenascin R,1358aa) | g.1:175292527A>G,c.4043T>C,p.M1348T |
| TNRC6C(NM_001142640,trinucleotide repeat containing 6C,1726aa) | g.17:76100687A>G,c.4942A>G,p.S1648G |
| TNRC6C(NM_001142640,trinucleotide repeat containing 6C,1726aa) | g.17:76098572G>A,c.4627G>A,p.D1543N |
| TNRC6C(NM_001142640,trinucleotide repeat containing 6C,1726aa) | g.17:76089062T>C,c.4010T>C,p.I1337T |
| TNRC6C(NM_001142640,trinucleotide repeat containing 6C,1726aa) | g.17:76083022C>T,c.3641C>T,p.P1214L |
| TNRC6C(NM_001142640,trinucleotide repeat containing 6C,1726aa) | g.17:76060866C>G,c.2450C>G,p.P817R |
| TNRC6C(NM_001142640,trinucleotide repeat containing 6C,1726aa) | g.17:76046979_76046980insA,c.1836_1837insA,p.612fs |
| TNRC6C(NM_001142640,trinucleotide repeat containing 6C,1726aa) | g.17:76046676C>A,c.1533C>A,p.N511K |
| TNRC6C(NM_001142640,trinucleotide repeat containing 6C,1726aa) | g.17:76046623G>A,c.1480G>A,p.D494N |
| TNRC6C(NM_001142640,trinucleotide repeat containing 6C,1726aa) | g.17:76046612G>C,c.1469G>C,p.G490A |
| TNRC6C(NM_001142640,trinucleotide repeat containing 6C,1726aa) | g.17:76046408G>A,c.1265G>A,p.R422Q |
| TNRC6C(NM_001142640,trinucleotide repeat containing 6C,1726aa) | g.17:76046096A>G,c.953A>G,p.N318S |
| TNRC6C(NM_001142640,trinucleotide repeat containing 6C,1726aa) | g.17:76045727A>G,c.584A>G,p.N195S |
| TNRC6C(NM_001142640,trinucleotide repeat containing 6C,1726aa) | g.17:76045663G>A,c.520G>A,p.A174T |
| TNRC6C(NM_001142640,trinucleotide repeat containing 6C,1726aa) | g.17:76045303G>A,c.160G>A,p.V54I |
| TNRC6B(NM_001162501,trinucleotide repeat containing 6B,1833aa) | g.22:40697319A>G,c.4102A>G,p.I1368V |
| TNRC6B(NM_001162501,trinucleotide repeat containing 6B,1833aa) | g.22:40697177_40697179del,c.3960_3962del,p.1320_1321del |
| TNRC6B(NM_001162501,trinucleotide repeat containing 6B,1833aa) | g.22:40676092G>A,c.3356G>A,p.R1119H |
| TNRC6B(NM_001162501,trinucleotide repeat containing 6B,1833aa) | g.22:40669482G>A,c.3019G>A,p.A1007T |
| TNRC6B(NM_001162501,trinucleotide repeat containing 6B,1833aa) | g.22:40666230T>C,c.2911T>C,p.S971P |