Gene | Position | Transcript ID | Exon | Coding sequence change | Protein change | Variant type |
---|---|---|---|---|---|---|
PRIM2 | chr6:57398207 | NM_000947 | 10 | c.910G > T | p.Gly304* | nonsense |
CDH1 | chr16:68844233 | NM_004360 | 6 | c.821G > A | p.Gly274Asp | missense |
ATRX | chrX:76778812 | NM_000489 | 31 | c.6767C > G | p.Ser2256Cys | missense |
KCNB1 | chr20:47991162 | NM_004975 | 2 | c.935G > A | p.Arg312His | missense |