Table 1 Mutational spectrum of the COL1A1 and the COL1A2 genes among Estonian OI patients

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