Table 2.
A summary of mutation identified in the LAMA2 gene
| Patient | Nucleic acid alternation | Amino acid alternation | Location | Zygosity | Affected domain | GenBank accession No. | ClinVar accession |
|---|---|---|---|---|---|---|---|
| 1 | c.8665G>A | Gly2889Arg | Exon61 | Hom. | LamG4 | KY054725 | SCV000323176.1 |
| 2 | c.397-4_c.478del | - | Intron3_Exon4 | cHet. | LamG2 | KY100117 | SCV000590914.1 |
| c.7452-1G>A | - | Intron53 | cHet. | LamNT | KY100118 | SCV000590915.1 | |
| 3 | c.8665G>A | Gly2889Arg | Exon61 | Hom. | LamG4 |
Hom, homozygous; Het, heterozygous; cHet, compound heterozygous; Lam, laminin; LamNT, laminin N-terminal domain