Mutation details:

Protein level identifier (n.a.):

p.Asp992Glufs*11

cDNA level identifier (n.a.):

c.2975dupA

Gene level identifier:

g.44173dupA

Reference, alternative allele:

G, GT

Genomic location hg(0)

3:148895669 (not available on ExAC)

Gene name:

CP

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).