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)
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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)