Table 7.
Potential diagnostic variants predicted by multiple submissions in CAGI4.
| Patient ID | SID# | Genomic position (hg19) | Gene | Transcript | Nucleotide change | Protein change |
|---|---|---|---|---|---|---|
| 1011 | 12, SickKids | 17:48266777:AGGGCCAGG:A | COL1A1 | NM_000088.3 | c.2782_2789delCCTGGCCC | p.Pro928CysfsTer10 |
| 1014 | 9, 11 | 13:100623343:T:A | ZIC5 | NM_033132.4 | c.587A>T | p.Asp196Val |
| 1024 | 12, SickKids | 16:3778350:TG:AA | CREBBP | NM_004380.2 | c.6697_6698delCAinsTT | p.Gln2233Leu |
| 1025 | 12, SickKids | 5:36985083:AA:A | NIPBL | NM_133433.4 | c.1808dupA | p.Ser604ValfsTer2 |
| 1028 | 9, 11 | 7:155595841:C:A | SHH | NM_000193.4 | c.1142G>T | p.Arg381Leu |
| 1041 | 9, 11 | X:153297872:C:T | MECP2 | NM_004992.3 | c.163G>A | p.Glu55Lys |
| 1060 | 9, 12, SickKids | 9:140648627:C:T | EHMT1 | NM_024757.5 | c.1253C>T | p.Ser418Leu |
| 1064 | 11, 12 | 11:6654044:G:A | DCHS1 | NM_003737.4 | c.2699C>T | p.Thr900Met |
| 1076 | 9, 11 | 11:47470494:T:A | RAPSN | NM_005055.5 | c.23A>T | p.Gln8Leu |
| 1083 | 9, 11 | 11:118307298:G:C | KMT2A | NM_001197104.1 | c.71G>C | p.Arg24Pro |
| 1099 | 9, 12 | 5:88056849:T:TT | MEF2C | NM_001193347.1 | c.412dupA | p.Ile138AsnfsTer2 |
| 1105 | 9, 11 | 10:112361827:A:T | SMC3 | NM_005445.3 | c.2996A>T | p.Lys999Met |
| 1106 | 11, 12 | 20:47991474:A:G | KCNB1 | NM_004975.4 | c.623T>C | p.Leu208Pro |