Mutation details:

Protein level identifier (NP_001135811):

p.Ser95Tyrfs*16

cDNA level identifier (NM_001142339):

c.283_284insA

Gene level identifier:

g.64880_64881insA

Reference, alternative allele:

T, TA

Genomic location hg(19)

18:11753834 (not available on ExAC)

Gene name:

GNAL

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).