A new splice acceptor site was generated by a point mutation (T-to-G) 7 nt of upstream of exon 8. The mutation results in the incorporation of 6 nt (2 codons; FQ) into the transcribed mRNA between exon 7 (Q302) and 8 (V303). (J:85651)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count