Coding nucleotide 190 was deleted (c.190delG) using an sgRNA with CRISPR/Cas9 technology. This results in a frameshift and premature stop codon (p.E64Rfs*14). (J:285212)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count