cDNA level identifier (NM_032409):

c.1488+1G>A

Gene level identifier:

g.15778G>A

Reference, alternative allele:

G, A

Genomic location hg(0)

1:20975725 (not available on ExAC)

Gene name:

Consequence:

splice site

Pathogenicity scoring:

Not available

CADD score:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 7 compound heterozygous (8 in total).