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