Exon 21 was replaced with a modified one in which a T to G transition results in the amino acid substitution of alanine for serine at position 1076 (S1076A). A self-excising neo cassette inserted downstream of the modified exon was removed. (J:190988)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count