The molecular lesion is at base 490 in ENSMUST00000022195.11, which was mutated from a C to a T in the F1 founder, resulting in a missense amino acid substitution at residue 108, arginine (R) to tryptophan (W), p.R108W. (J:251771)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count