Table 2.
Novel variants detected by NGS
| Gene | Nucleotide change | Amino acid change | Mutation type | Sillence type |
|---|---|---|---|---|
| COL1A1 | c.387delT | p.Pro129Profs*30 | Frameshift | I |
| COL1A1 | c.495T>G | p.Tyr165* | Nonsense | I |
| COL1A1 | c.1615-2A>T | Splice site | III | |
| COL1A1 | c.2347G>T | p.Glu783* | Nonsense | I |
| COL1A1 | c.2451+2T>G | Splice site | I | |
| COL1A1 | c.2574delT | p.Pro859Leufs*249 | Frameshift | I |
| COL1A1 | c.2716_2717dupCG | p.Gly906Alafs*40 | Frameshift | I |
| COL1A1 | c.3112delG | p.Glu1038fs*70 | Frameshift | I |
| COL1A1 | c.3262-2A>G | Splice site | I | |
| COL1A1 | c.3904C>T | p.Pro1302Ser | Missense | I |
| COL1A2 | c.395G>A | p.Arg132His | Missense | I |
| COL1A2 | c.1252-7delT | Splice site | I | |
| COL1A2 | c.1503+12_14delCAC | Splice site | IV | |
| COL1A2 | c.2419_2427dup | p.Pro807_Pro809dup | In-frame insertion | IV |
| COL1A2 | c.2952_2960dup | p.Gly985_Val987dup | In-frame insertion | I |