Mutation details:

Protein level identifier (n.a.):

p.Asp430Thrfs*36

cDNA level identifier (n.a.):

c.1282_1286dupTACAC

Gene level identifier:

g.19888_19892dupTACAC

Reference, alternative allele:

T, TGTGTA

Genomic location hg(0)

3:148919950 (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:

1 homozygous (1 in total).