Table 2.
CHM variants identified in this cohort of patients
| Subjects | Nucleotide Change | Amino Acid Change | Mutation Type | Exon/Intron | ACMG category | References |
|---|---|---|---|---|---|---|
| F1 | c.1960 T > C | p.Ter654Gln | read through | EX15 | LP | Novel |
| F2 | c.877C > T | p.Arg293* | nonsense | EX7 | P | [22, 23] |
| F3 | c.1257del | p.Ile420*fs1 | frameshift | EX10 | LP | Novel |
| F4 | c.1103_1121delATGGCAACACTCCATTTTT | p.Tyr368Cysfs35 | frameshift | EX8 | LP | Novel |
| F5 | c.1414-2A > T | – | splicing | IN 11 | P | Novel |
| F6 | c.1213C > T | p.Gln405* | nonsense | EX8 | P | Novel |
| F7 | c.117-1G > A | – | splicing | EX2 | LP | Novel |
P pathogenic, LP Likely pathogenic