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Table 1 Secondary findings in prediction software's in clinical genomic whole-exome sequencing from families with FCHL

From: Secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL)

ID Related phenotype DANN SIFT FATHMM-MKL Mutation taster Identified variants
1 Diabetes mellitus non-insulin dependent D T D D CDK5 Regulatory Subunit Associated Protein 1-Like 1( CDKAL1) (NM_017774: exon3: c.G116A: p.R39Q)
2 Platelet-type bleeding disorder D D D N Integrin Subunit Alpha 2(ITGA2)(NM_002203:exon4:c.A352G:p.I118V)
Gracile bone dysplasia Kenny–Caffey syndrome type 2 D T N D FAM111 Trypsin-Like Peptidase A (FAM111A) (NM_001312911:exon4:c.C1216T:p Q406X)
3 Pseudohypoaldosteronism, type IIB F F F F WNK Lysine Deficient Protein Kinase 4(WNK4) (NM_032387: exon1: c.178delA: p.S60fs)
4 Hypertension D T N N Prostaglandin I2 Synthase (PTGIS)(NM_000961: exon1: c. G62A: p. R21H)
Episodic pain syndrome, familial, F F F F Sodium Voltage-Gated Channel Alpha Subunit 10(SCN10) (NM_001293307: exon26:c.5116_5117del:p.L1706fs)
Atrial septal defect 4 (ASD4) D D D D T-Box Transcription Factor 20(TBX20) (NM_001077653: exon4:c.G577A:p.G193S)
Mitral valve prolapse 2 MVP2 D T D D Dachsous Cadherin-Related 1(DCHS1)(NM_003737: exon10:c.G4330A:p.A1444T)
5 Cardiac arrhythmia, ankyrin-B-related,;Long QT syndrome D D D D Ankyrin 2(ANK2) (NM_001148: exon38:c.C6749T: p.S2250L)
6 Coronary artery disease & HDL deficiency D T D D ATP Binding Cassette Subfamily A Member 1(ABCA1) (NM_005502: exon5: c.C357A: p.D119E)
  1. B: Benign, T: tolerate, D: disease causing, N: natural, S: stop gain, F: frame shift