A C-to-T change at the twelfth nucleotide in exon 6 results in a substitution of arginine with tryptophan at postion 304 (p.R304W). (J:59724)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count