Protein level identifier (n.a.):

p.Val324Alafs*111

cDNA level identifier (n.a.):

c.971delT

Gene level identifier:

g.1178806delT

Archive identifier/Other designation:

1072delT

Reference, alternative allele:

GA, G

Genomic location hg(19)

6:161969997 (not available on ExAC)

Gene name:

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 homozygous, 10 compound heterozygous (14 in total).