Protein level identifier (NP_000152):

p.Pro69Leu

cDNA level identifier (NM_000161):

c.206C>T

Gene level identifier:

g.395C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

14:55369176 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous, 2 compound heterozygous (4 in total).