From: Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients
No | Patient ID | Gene | Mutation | Exon | Mutation type | Protein alteration | Sillence OI type |
---|---|---|---|---|---|---|---|
1 | EE01# | COL1A2 | c.1630G>GT* | Exon 28 | Missense | p.Gly544Cys | III |
2 | EE02 | COL1A1 | c.1821 + 1G>GA | Intron 26 | Splice site | – | III |
3 | EE03 | COL1A1 | c.1897G>GT* | Exon 26 | Nonsense | p.Glu633* | IV |
4 | EE04 | COL1A1 | c.750 + 2T>TA* | Intron 10 | Splice site | – | IV |
5 | EE05 | COL1A1 | c.1821 + 1G>GA | Intron 26 | Splice site | – | I |
6 | EE07# | COL1A1 | c.2317G>T* | Exon 33_34 | Missense | p.Gly773Cys | II |
7 | EE08 | COL1A1 | c.3217G>GA* | Exon 45 | Missense | p.Gly1073Ser | III |
8 | EE09 | COL1A1 | c.1155 + 2T>TG* | Intron 17 | Splice site | – | I |
9 | EE10 | COL1A1 | c.1128_hetdelT | Exon 17 | Frameshift | p.Gly377Alafs*164 | I |
10 | EE11# | COL1A1 | c.3235G>GA | Exon 45 | Missense | p.Gly1079Ser | I |
11 | EE13 | COL1A1 | c.2089C>CT | Exon 31 | Nonsense | p.Arg697* | IV |
12 | EE14# | COL1A1 | c.904-9G>GA | Intron 13 | Splice site | – | I |
13 | EE15 | COL1A2 | c.1009G>GA | Exon 19 | Missense | p.Gly337Ser | III |
14 | EE16# | COL1A2 | c.2324G>GA | Exon 38 | Missense | p.Gly775Glu | III |
15 | EE17# | COL1A1 | c.3045 + 1G>GA | Intron 42 | Splice site | – | IV |
16 | EE18 | COL1A1 | c.505G>GA* | Exon 6 | Missense | p.Glu169Lys | I |
17 | EE19 | COL1A1 | c.299-1G>GC* | Intron 3 | Splice site | – | IV |
18 | EE20 | COL1A2 | с.937-3С>CT | Intron 18 | Splice site | – | I |
19 | EE21 | COL1A1 | c.3262G>GT* | Exon 46 | Nonsense | p.Gly1088* | IV |
20 | EE22 | COL1A1 | c.3262G>GT* | Exon 46 | Nonsense | p.Gly1088* | I |
21 | EE24 | COL1A1 | c.1767 + 5G>GA* | Intron 25 | Splice site | – | IV |
22 | EE25 | COL1A1 | c.1354-2A>AG | Intron 20 | Splice site | – | I |
23 | EE27# | COL1A1 | c.3208-1G>GA* | Intron 44 | Splice site | – | I |
24 | EE29# | COL1A2 | c.865G>AG | Exon 17 | Missense | p.Gly289Ser | III |
25 | EE30 | COL1A2 | c.2026-1_2031het dup* | Intron-Exon 34 | Splice site, frameshift | – | III/IV |
26 | EE31# | COL1A1 | c.1081C>CT | Exon 17 | Nonsense | p.Arg361* | I |