Mutation details:

cDNA level identifier (n.a.):

c.2554+1G>T

Gene level identifier:

g.40052G>T

Archive identifier/Other designation:

IVS14 +1G>T

Reference, alternative allele:

C, A

Genomic location hg(0)

3:148899791 (not available on ExAC)

Gene name:

CP

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).