Table 1. Case-specific coding variants found in whole exome sequencing data in the associated locus.

Gene	Protein	Genomic coordinates	Coding sequence variant	Amino acid consequence	Predicted effect
LAMP3	lysosomal-associated membrane protein 3	chr34:16092728C>T	c.1159G>A XM_843796.4	p.(E387K) XP_848889.2	Deleterious
ABCC5	ATP-binding cassette subfamily A member 5	chr34:16887330G>A	c.2524C>T NM_001128100.1	p.(P842S) NP_001121572.1	Neutral
KLHL6	kelch-like family member 6	chr34:16447091G>A	c.1713C>T XM_545220.6	p.(I571I) XP_545220.3	No effect