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| Effect | Gene | mRNA | exon | II-2 | II-3 | II-1 | I-2 | I-1 |
|---|---|---|---|---|---|---|---|---|
| frameshift insertion | LYST | NM_000081 | exon27:c.7605_7605delinsAT | het. | het. | het. | het. | wild |
| stopgain SNV | LYST | NM_000081 | exon6:c.C3310T:p.R1104X | het. | het. | wild | wild | het. |
Het., heterozygous genotype; wild, wild type.
