CRISPR/Cas9 technology generated a G to C substitution at nucleotide -1 of exon 10 (c.2146-1G>C, i.e. IVS10-1G>C in human) generating a splice acceptor site mutation. (J:326270)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count