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. 2023 Nov 28;29:1611343. doi: 10.3389/pore.2023.1611343

TABLE 2.

Details of mutant genes.

Genes Chr Mutations Type Variant allele frequencies (%) CGC cancer types
BRCA1 17 NM_007297:exon9:c.G3702C:p.Q1234H Non-synonymous SNV 16.1 Ovarian (somatic)
BLM 15 NM_000057:exon16:c.A3167G:p.K1056R Non-synonymous SNV 39.5 Leukemia, lymphoma, skin squamous carcinoma, other tumor types (germline)
FOXA1 14 NM_004496:exon2:c.754_774del:p.252_258del Non-frameshift deletion 17.3 breast, prostate (somatic)
SETX 9 NM_001351527:exon10:c.4301_4310del:p.D1434fs Frameshift deletion 26.7 Undertermined