Mutation details:

Protein level identifier (NP_001135811):

p.Arg198Thrfs*13

cDNA level identifier (NM_001142339):

c.591dupA

Gene level identifier:

g.175622_175623insA

Reference, alternative allele:

A, AA

Genomic location hg(19)

18:11864576 (not available on ExAC)

Gene name:

GNAL

Consequence:

frameshift

Pathogenicity scoring:

Definitely pathogenic

CADD score:

35

Positive functional evidence:

23449625;

Number of all included cases:

6 heterozygous (6 in total).