TABLE 2.
Chromosome | Gene | Position | Ref/Alt | Effect |
---|---|---|---|---|
chr2 | LOC100525562 | 63348710 | T/G | stop_gained |
chr3 | IMMT | 58600395 | A/G | splice_acceptor_variant&intron_variant |
chr13 | MRAP | 195965524 | A/G | splice_acceptor_variant&intron_variant |
chr17 | PCM1 | 5704650 | A/T | stop_lost |