Table 2 Details of the identified pathogenic/likely pathogenic variants

ENG

c.-127C > T

decreased translation

No

1

c.67 + 1G > A

splicing defects

No

1

c.97C > T

p.Gln33*

2

Yes

1

c.125 T > G

p.Val42Gly

2

No

1

c.132_133delTA

p.Thr45Hisfs

2

No

1

c.219G > A

p.Thr73 = (skipping of exon 2)

2

No

2

c.239 T > C

p.Leu80Pro

3

No

1

c.277C > T

p.Arg93*

3

Yes

1

c.277delC

p.Arg93Glufs*9

3

No

1

c.319delC

p.Leu107Cys fs

3

No

1

c.357C > G

p.Tyr120Ilefs*42

3

No

1

c.360 + 1G > C

splicing defects

No

1

c.360 + 1G > A

splicing defects

No

3

c.433delC

p.Gln145Argfs*18

4

No

1

c.461_462insG

p.Ile156Hisfs

4

No

1

c.478delG

p.Ala160Leufs*3

4

No

1

c.494C > A

p.Pr165His

4

No

1

c.497A > C

p.Gln166Pro

4

Yes

2

c.524-1G > C

splicing defects

No

1

c.581_595del15b

p.Leu194_Pro198del5AA

5

No

1

c.586 T > A

p.Trp196Arg

5

No

1

c.611_628del18b

p.Val204_Leu209del

5

No

1

c.614G > C

p.Arg205Pro

5

Yes

1

c.647_658del

p.His215_Ala218del

5

No

1

c.685delG

p.Ala229Profs*5

5

No

1

c.760C > T

p.Gln254*

6

No

1

c.785 T > C

p.L262P

6

Yes

1

c.816 + 2 T > A

splicing defects

No

3

c.817-1G > C

splicing defects

No

1

c.937 T > C

p.Ser313Pro

7

No

1

c.944 T > A

p.Val315Glu

7

No

1

c.952-961del10b

p.Pro318Alafs

7

No

1

c.965_966delTT

p.Ile322Serfs*11

7

No

1

c.991G > A

p.Gly331Ser

7

Yes

1

c.992-1G > A

splicing defects

No

1

c.1087 T > A

p.Cys363Ser

8

Yes

1

c.1089 T > G

p.Cys363Trp

8

No

1

c.1103 T > C

p.Met368Thr

8

Yes

2

c.1109 T > C

p.Leu370Pro

8

Yes

1

c.1134G > A

p.Ala378 = (splicing defect)

8

Yes

1

c.1134 + 1G > C

splicing defects

No

1

c.1134 + 1delG

splicing defects

No

1

c.1140_1141insCTACCCAGCATTTG

p.Lys381Leufs*5

9

No

1

c.1160_1173delTGACCTTCTGGGAC

p.Leu387Profs*4

9

No

1

c.1169G > A

p.Trp390*

9

Yes

1

c.1181G > A

p.Cys394Tyr

9

Yes

1

c.1195delA

p.Arg399Glyfs*22

9

No

1

c.1209_1210insTT

p.Val404Leufs*18

9

No

1

c.1235G > A

p.Cys412Tyr

9

Yes

2

c.1268A > G

p.Asn423Ser

9

Yes

1

c.1306C > T

p.Gln436*

10

Yes

1

c.1311 + 2 T > C

splicing defects

No

3

c.1319 T > C

p.Val440Ala

11

No

1

c.1346_1347delCT

p.Ser449Phefs*51

11

No

1

c.1411C > T

p.Gln471*

11

Yes

1

c.1429-2A > G

splicing defects

No

1

c.1465C > T

p.Gln489*

12

No

1

c.1513G > T

p.Glu505*

12

Yes

1

c.1517 T > C

p.Leu506Pro

12

Yes

2

c.1649_1650insAC

p.Val551Argfs*2

12

No

1

c.1672_1684del13b

p.Gly558fs

12

No

1

c.1675_1678delTCTC

p.Ser559Lysfs*13

12

No

1

c.1687delG

p.Glu563Lys fs

13

No

1

del exons 3–8

3–8

No

1

del exons 3–8

3–8

No

1

del exons 3–14

3–14

No

1

del exons 13–14

13–14

No

1

del exons 9–14

9–14

No

1

ACVRL1

c.90_102delGCTGGTGACCTGC

p.Leu31Argfs*19

3

No

2

c.95 T > A

p.Val32Glu

3

No

1

c.203delG

p.Gly68Alafs*54

3

No

1

c.270C > G

p.Cys90Trp

3

Yes

1

c.352C > T

p.Gln118*

4

Yes

1

c.430C > T

p.Arg144*

4

Yes

1

c.448C > T

p.Q150*

4

Yes

2

c.480_486dupCAGTCTC

p.Ile163fs

4

No

1

c.505C > T

p.Gln169*

4

Yes

1

c.525 + 1G > C

splicing defects

No

1

c.525 + 1delG

splicing defects

Yes

1

c.598C > G

p.Arg200Gly

5

Yes

3

c.614 T > G

p.Val205Gly

5

Yes

2

c.772 + 3_772 + 4dupAA

unknown, splicing defects?

No

1

c.830C > G

p.Thr277Arg

7

No

1

c.839A > G

p.His280Arg

7

Yes

2

c.899 T > C

p.Leu300Pro

7

No

1

c.926G > T

p.Gly309Val

7

Yes

1

c.956G > T

p.Gly319Val

7

No

1

c.969_970insA

p.Pro324Thr fs*73

7

No

1

c.982C > T

p.His328Tyr

7

Yes

1

c.982C > A

p.His328Asn

7

No

1

c.994A > T

p.Lys332*

7

Yes*

1

c.1044C > G

p.Asp348Glu

7

No

1

c.1069C > T

p.Gln357*

8

Yes

1

c.1120C > T

p.Arg374Trp

8

Yes

1

c.1121G > A

p.Arg374Gln

8

Yes

2

c.1132C > T

p.Pro378Ser

8

Yes

1

c.1231C > T

p.Arg411Trp

8

Yes

3

c.1232G > A

p.Arg411Gln

8

Yes

4

c.1271C > T

p.Pro424Leu

9

Yes

1

c.1327C > T

p.Cys443Arg

9

No

1

c.1345C > G

p.Pro449Ala

9

No

2

c.1412G > A

p.Cys471Tyr

10

No

2

c.1435C > T

p.Arg479*

10

Yes

7

c.1436G > A

p.Arg479Gln

10

Yes

1

c.1451G > A

p.Arg484Gln

10

Yes

3