The mutation is an in-frame 15bp deletion and insertion of a single A in exon 7. The 15bp in frame deletion (760_774) is predicted to remove amino acids FAAAI. (J:246596)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count