Mutation details:

Protein level identifier (n.a.):

p.Tyr420*

cDNA level identifier (n.a.):

c.1257_1258delTT

Gene level identifier:

g.19863_19864delTT

Reference, alternative allele:

TAA, T

Genomic location hg(0)

3:148919978 (not available on ExAC)

Gene name:

CP

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).