VARIANT | ZYGOSITY | VARIANT CLASSIFICATION | |
---|---|---|---|
c.818G>A (p.Cys273Tyr) | heterozygous | Likely Pathogenic | |
c.1439C>T (p.Ser480Leu) | heterozygous | Uncertain Significance | |
c.1657A>G (p.Met553Val) | heterozygous | Uncertain Significance | |
c.5293C>T (p.Pro1765Ser) | heterozygous | Uncertain Significance | |
c.1814G>A (p.Ser605Asn) | heterozygous | Uncertain Significance | |
c.1603C>G (p.Gin535Glu) | heterozygous | Uncertain Significance |