- The identified variants in the present study.
| Family Number | Ref seq NM | Nucleotide change | Amino Acid Change | Variant Type | SIFT | Polyphen2 | ACMG |
|---|---|---|---|---|---|---|---|
| 1 | NM_000267.3 | Exons 1-58 deletion | / | Deletion | D | D | pathogenic |
| 2 | NM_000267.3 | c.5401C>T | p.Q1801* | Nonsense | D | D | Likely pathogenic |
| 3 | NM_000267.3 | Exon 1 deletion | / | Deletion | D | D | pathogenic |
| 4 | NM_000267.3 | c.2991-2A>C | / | Splicing | D | D | Likely pathogenic |
| 5 | NM_000267.3 | c.484C>T | p.Q162* | Nonsense | D | D | pathogenic |
| 6 | NM_000267.3 | c.5197T>C | p.S1733P# | Missense | T | D | Uncertain significance |
| 7 | NM_000267.3 | c.4922G>A | p.W1641* | Nonsense | D | D | pathogenic |
| 8 | NM_000267.3 | c.783_797delinsC | p.K261Nfs*25# | Frameshift | D | D | Likely pathogenic |
| 9 | NM_000267.3 | Exons 1-58 deletion | / | Deletion | D | D | pathogenic |
| 10 | NM_000267.3 | c.1019_1020del | p.S340Cfs*25 | Frameshift | D | D | pathogenic |
D (SIFT) possibly damaging; T (SIFT), tolerated; D (Polyphen2), probably damaging; #, novel variants.