Mutation details:

Protein level identifier (n.a.):

p.Leu897Aspfs*27

cDNA level identifier (n.a.):

c.2689_2690delCT

Gene level identifier:

g.43452_43453delCT

Reference, alternative allele:

CAG, C

Genomic location hg(0)

3:148896389 (not available on ExAC)

Gene name:

CP

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

40

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).