Mutation details:

cDNA level identifier (n.a.):

c.3019-1G>A

Gene level identifier:

g.45643G>A

Archive identifier/Other designation:

IVS17-1G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

3:148894200 (not available on ExAC)

Gene name:

CP

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 homozygous (3 in total).