Other candidate variants in the family
Other candidate variants in this family included MAP3K6NM_004672.5: c.2536C>T, p.(Arg846Cys), ABTB1NM_032548.3: c.787G>C, p.(Ala263Pro) and INVSNC_000009.12(INVS_v004):c.3017-5T>G. However, thePTPRT variant was the most relevant among all of them,
considering both the gene and the effect of the mutation, reason for
which it was selected for further characterization. The segregation of
these additional candidate variants is shown in Supplementary Table S4.