Gene | Chromosome | site | RSID | Gene type | Protein reference | Variant type |
---|---|---|---|---|---|---|
EPAS1 | chr2 | 46,607,682 | rs768469246 | Heterozygote | p.A624D | Missense |
SETD2 | chr3 | 47,125,703 | rs758229404 | Heterozygote | p.N1856S | Missense |
MSH3 | chr5 | 79,950,708 | NA | Heterozygote | p.A60_A62dup | Non-frame shift insertion |
BMPR1A | chr10 | 88,679,172 | NA | Heterozygote | p.K371T | Missense |
ERCC4 | chr16 | 14,015,937 | rs187435008 | Heterozygote | p.R86H | Missense |
CDH1 | chr16 | 68,867,343 | rs142927667 | Heterozygote | p.E864K | Missense |
AR | chrX | 66,765,158 | rs3032358 | Homozygote | p.Q79_Q8 0dupl | Non-frame shift insertion |
AR | chrX | 66,766,356 | NA | Heterozygote | p.G473del | Non-frame shift deletion |