Mirror of Marxist-Leninist/mva-hackathon-2026 incl. genome-wide addendum, dosage model, contraindications
4533472 verified | proband_id,chrom_1,pos_1,ref_1,alt_1,chrom_2,pos_2,ref_2,alt_2,epcr,finding_type,notes | |
| PROBAND01,chr15,40209701,T,G,chr15,40220612,T,G,0.99,primary,"BUB1B NM_001211.6 c.2210T>G p.Leu737Ter plus c.3006T>G p.Asn1002Lys; both high-quality heterozygous calls; trans is inferred and requires segregation or long-molecule phasing." | |