Table 2 Pathogenic CDKN2A variants identified in proband cases in Australia, Spain and the United Kingdom

5′UTR

c.-34G > T

r.-34_-32 > p.M1

_

_

1

1

1

Exon 1α

c.9_32del24

p.A4_10Edel7

_

_

.

.

3

c.32_33ins9_32

p.M1_S8dup

_

_

1

.

4

c.52_57dup6

p.20T_21Adup

_

_

1

.

1

c.68G > A

p.G23D

_

_

.

.

1

c.71G > C

p.R24P

_

_

.

.

1

c.95T > C

p.L32P

_

_

1

.

1

c.104G > A

p.G35E

_

_

.

1

.

c.104G > C

p.G35A

_

_

.

.

1

c.106delG

p.A36RfsX17

_

_

.

1

.

c.113C > G

p.P38R

_

_

.

.

1

Exon 1β

_

_

c.45_60dup

p.V22PfsX46

.

1

.

_

_

c.81C > G

p.I27M

1

.

.

_

_

c.102G > A

p.W34X

1

.

.

_

_

c.193G > A

p.G65S

1

.

.

_

_

c.193G > C

p.G65R

1

.

.

Exon 2

c.159G > C

p.M53I

c.202G > C

p.D68H

.

.

5

c.176T > G

p.V59G

c.219T > G

p.S73R

.

3

.

c.188T > C

p.L63P

c.231T > C

p.A77A

.

.

2

c.194T > C

p.L65P

c.237T > C

p.A79A

1

1

.

c.202_203GC > TT

p.A68L

c.245_246GC > TT

p.R82L

1

.

.

c.206A > G

p.E69G

c.249A > G

p.G83G

3

.

.

c.212A > C

p.N71T

c.255A > C

p.Q85H

.

.

1

c.228_246del19

p.L77TfsX62

c.271_289del19

p.R90VfsX75

.

.

2

c.240_253del14

p.81PfsX56

c.92_105del14

p.95TfsX56

.

.

1

c.251A > C

p.D84A

c.294A > C

p.R84R

.

.

1

c.259C > T

p.R87W

c.302C > T

p.P101L

.

2

.

c.301G > T

p.G101W

c.344G > T

p.R115L

.

5

.

c.331G > A

p.G111S

c.374G > A

p.G125E

.

.

1

c.358delG

p.E120SfsX26

_

_

.

1

.

c.370C > T

p.R124C

_

_

.

2

.

c.379G > T

p.A127S

_

_

.

1

.

Intron 2

c.458-105A > G

p.156_157del

_

_

1

.

4

Total

14

19

31