Table 2.
Genetic characteristics of 20 HLDs patients
| Pt | Gene | Transcript | CDS | Protein | Or | N/R | GE | CA | SI | Po | MT | Co | MC | PR |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | TUBB4A | NM_006087.3 | c.1164 G > T | p.(M388I) | d | N | 3.4 | 23.8 | D | D | D | D | N | D |
| 2 | TUBB4A | NM_006087.3 | c.1062 C > G | p.(C354W) | d | R | 0.6 | 25.5 | D | D | D | D | D | D |
| 3 | TUBB4A | NM_006087.3 | c.1062 C > G | p.(C354W) | d | R | 0.6 | 25.5 | D | D | D | D | D | D |
| 4 | POLR3A | NM_007055.3 | c.661_662insCCT | p.(P220_L221insS) | m | N | 5.1 | – | – | – | – | – | – | – |
| c.1770 + 5 G > C | p.(P591Vfs*28) | p | N | 4.8 | 7.2 | – | – | – | – | – | -– | |||
| 5 | POLR1C | NM_001318876.1 | c.322 C > T | p.(H108Y) | p | N | 5.6 | 29.8 | D | D | D | D | D | D |
| c.883_885delAAG | p.(K295del) | m | R | 4.9 | 14.6 | – | – | – | – | – | – | |||
| 6 | POLR1C | NM_001318876.1 | c.326 G > A | p.(R109H) | p | R | 4.8 | 34.0 | D | D | D | D | D | D |
| c.901 C > T | p.(R301W) | m | N | 4.9 | 35.0 | D | D | D | D | D | D | |||
| 7 | SOX10 | NM_006941.3 | c.227 T > A | p.(V76D) | d | N | 4.4 | 27.6 | D | D | D | D | D | D |
| 8 | TMEM106B | NM_001134232.1 | c.754 G > A | p.(D252N) | d | # | 5.4 | 32.0 | D | D | D | D | D | D |
| 9 | DEGS1 | NM_001321541.1 | c.110 T > C | p.(M37T) | p | # | 5.5 | 24.6 | D | D | D | D | D | D |
| c.770 G > A | p.(W257*) | m | # | 5.9 | 43.0 | – | – | D | – | – | – | |||
| 10 | TMEM63A | NM_014698.2 | c.1385 T > A | p.(I462N) | d | # | 5.1 | 31.0 | D | D | D | D | D | D |
| 11 | TMEM63A | NM_014698.2 | c.503 G > A | p.(G168E) | d | # | 5.9 | 26.9 | D | D | D | D | D | D |
Pt patient, Or origin, m maternal, p paternal, d de novo, N novel, R reported, GE GERP + + RS, CA CADD, SI SIFT, Po PolyPhen, MT mutation taster, Co Condel, MC M-CAP, PR PROVEAN, D probably damaging in polyphen or deleterious in other software, N neutral, # patients with these variants have been reported in our previous paper