This A-to-G polymorphism at coding nucleotide 712, found in the SEG strain, changes codon 238 from isoleucine to valine (p.I238V). (J:38977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count