Table 1.
Summary of misreported variants and corrections
| Paper Annotation | Correct Annotation | Type of Error | Error Source | Notes | ||
|---|---|---|---|---|---|---|
| c.208_215del | p.(P70fs*123) | c.208_215del | p.(Pro70Glyfs*54) | Amino acid position | Kantaputra et al. (2014) | |
| c.213insGCCGCAC | p.(Leu72Alafs*57) | c.207_213dup | p.(Leu72Alafs*57) | c.DNA position | Sandberg et al. (2008) | |
| c.247_248delC | p.(D83Qfs*43) | c.247_248del | p.(Asp83Glnfs*43) | c.DNA position | Jurecka et al. (2014b) | |
| c.262_263insA | p.(Pro89Alafs*38) | c.263dup | p.(Pro89Alafs*38) | c.DNA position | Jurecka et al. (2014b) | |
| c.306_312delCTACCAG+146del | p.(Y103SfsX9) | c.306_312+146del | p.(Tyr103Serfs*25) | c.DNA position | Uttarilli et al. (2015) | |
| c.31091insCCTGAAG_delATACT | — | c.750_754delinsCCTGAAG | p.(Glu250Aspfs*4) | Reference sequence | Jurecka et al. (2011b) | The reference sequence used by Jurecka likely is NC_000005.9 |
| c.356358 del | p.(Y86del) | c.356_358del | p.(Pro119_Ser120delinsArg) | Amino acid position | Karageorgos et al. (2004) | |
| c.375_376insT | p.(Glu126*) | c.375dup | p.(Glu126*) | c.DNA position | Jurecka et al. (2012a) | |
| c.436G>T | p.(Trp146Leu) | c.437G>T | p.(Trp146Leu) | c.DNA position | Simonaro and Schuchman (1995) | |
| c.496delT | p.(Phe166Leufs*18) | c.498del | p.(Phe166Leufs*18) | c.DNA position | Uttarilli et al. (2015) | |
| c.592C>T | p.(R197*) | c.589C>T | p.(Arg197*) | c.DNA position | Petry et al. (2005) | Also reported by Karageorgos et al. (2007b) |
| c.629_635del | p.(Tyr210*) | c.630_636del | p.(Tyr210*) | c.DNA position | Karageorgos et al. (2007b) | |
| c.659_660del | p.(I220fs*5) | c.659_660del | p.(Ile220Serfs*5) | Annotation error | Uttarilli et al. (2015) | |
| c.785insA | p.(Asn262Lysfs*14) | c.785dup | p.(Asn262Lysfs*14) | c.DNA position | Chistiakov et al. (2014) | |
| c.883_884dupTT | p.(F295Ffs*42) | c.883_884dup | p.(Ile296Serfs*43) | Amino acid position, annotation | Ferla et al. (2015) | |
| c.1036delG | p.(E346Sfs*11) | c.1036del | p.(Glu346Serfs*13) | Amino acid position, annotation | Ferla et al. (2015) | |
| c.1285_1286insT | p.(His430Profs*5) | c.1286dup | p.(His430Profs*5) | c.DNA position | Isbrandt et al. (1994) | |
| c.1325C>T | p.(T442R) | c.1325C>T | p.(Thr442Met) | Annotation error | Karageorgos et al. (2007b) | |
| c.1348G>C | p.(Trp450Cys) | c.1350G>C | p.(Trp450Cys) | c.DNA position | Mathew et al. (2015) | |
| c.1457A>G | p.(D486V) | c.1457A>T | p.(Asp486Val) | Annotation error | Nouri et al. (2012) | |
| c.1531_1553del | p.(V512Pfs*3) | c.1534_1556del | p.(Val512Profs*3) | c.DNA position | Petry et al. (2005) | Also reported by Garcia et al. (2010) |