Mutation details:

Protein level identifier (n.a.):

p.Asp690Thrfs*20

cDNA level identifier (n.a.):

c.2068delG

Gene level identifier:

g.35527delG

Reference, alternative allele:

TC, T

Genomic location hg(0)

3:148904315 (not available on ExAC)

Gene name:

CP

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).