Mutation details:

cDNA level identifier (n.a.):

c.304+2_304+13del12

Gene level identifier:

g.379_390del12

Reference, alternative allele:

GTAAGACCCCGGG, G

Genomic location hg(0)

2:73114866 (not available on ExAC)

Gene name:

SPR

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).