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Total exon detection results.
| Gene | Reference sequence | Nucleotide change/ mutation name | Amino acid change | Gene subregion | Heterozygosity | Chromosome location | Reference | Variant type | Inherited |
| ASL | NM_ 001024943.1 | c.281G > T | p.Arg94Leu | EX3 | Heterozygous | Chr:65547428 | – | VUS | Father |
| ASL | NM_ 000048 | c.208-15 T > A | – | – | Heterozygous | Chr:65547340 | – | VUS | Mother |
