Table S2.

Rare homozygous protein-altering variants detected in the proband

Gene symbolChr: position (hg19)AA changeMetaSVM score (prediction)NHLBI1000GTurkish DB (894 subjects)ExAC (overall)ExAC (highest subfrequency)
ACOX23: 58520203Y69*Truncating00000
CHDH3: 53851817A591V−1.051 (T)00000
LRRIQ112: 85531684I1422M−0.927 (T)0.0074140.010.00060.008610.02184 (south Asian)
OSBPL62: 179255872R817W−0.412 (T)00000
RASEF9: 85620405R347W−0.118 (T)0004.94E-050.0002312 (east Asian)
  • None of the listed genes are OMIM-related genes. AA, amino acid; Chr, chromosome; DB, database; ExAC, Exome Aggregation Consortium database; NHLBI, National Heart, Lung, and Blood Institute Exome Sequencing Project database; 1000G, 1000 Genome database. MetaSVM scores missense variants on a scale of −2 to 3, with scores <0 predicted to be tolerated (T) and scores >0 predicted to be damaging (D).