Table S2 Summary of germline and somatic point mutations in NF1-associated tumours

T196.3

Ex 2 and 3 deleted

2 exon deletion

Ex4c: c.648dup73 p.Leu216

(through splice site)

73 bp

duplication

(FS)

1

T196.12

Ex4c: c.655-1G > A

Splice site

T196.15

Ex6: c.750delT

p.Phe250LeufsX30

1 bp deletion

(FS)

T196.16

Ex16: c.2534_2557del24

p.Cys845X

24 bp deletion

(In-frame)

T196.7

Ex16: c.2844delA

p.Gly949AspfX3

1 bp deletion

(FS)

T196.4

Ex18: c.3047_c3048delGT

p.Cys1016SerfsX4

2 bp deletion

(FS)

T196.5

Ex27a: c.4537C > T

p.Arg1513X R

Nonsense

T196.13

Ex27b: c.4743delG

p.Asp1582IlefsX21

1 bp deletion

(FS)

T196.1

Ex44: c.7721_7722delAA

p.Lys257Ser4fsX4

2 bp deletion

(FS)

T543.1

Ex4a: c.373delGinsATGTGT

p.Arg125HisfsX22

Indel (FS)

Ex21: c.3568del80

p.Gly1190HisfsX3

80 bp deletion

(FS)

Unpublished data,

Cardiff

T543.3

Ex26: c.4388C > T

p.Ser1463Phe

Missense

T128.10

Ex6: c.784C > T p.Arg262Cys

Missense

Ex4b: c.574C > T p.Arg192X

R

Nonsense

Unpublished data,

Cardiff

T128.1

Ex8: c.1170delC

p.Asp390LysfsX6

1 bp deletion

(FS)

T128.17

Ex10c: c.1556A > C

p.Gln519Pro R

Missense

T128.8

Ex32: c.6055_6056delTC

p.Ser2019TrpfsX18

2 bp deletion

(FS)

NF29a-4

Ex6: c.801G > A p.Trp267X

Nonsense

Ex10a: c.1381C > T

p.Arg461X

Nonsense

37

NF17-8

Ex10c: c.1528-14_1546del33

p.Asp510fs (through splice

site)

32 bp deletion

[FS]

NF17-1

Ex10c: c.1641 + 1G > A

Splice site

NF17-9

Ex18: c.3049C > T

p.Glu1017X

Nonsense

NF29a-7

Ex19b: c.3303_3314+7del19

p.Glu1101 (through splice site)

19 bp deletion

[FS]

NF17-15

Ex23.1: c.3916C > T

p.Arg1306X R

Nonsense

NF29a-9

Ex27b: c.4756insT

p.Tyr1586LeufsX14

1 bp insertion

(FS)

NF17-18

Ex28: c.5205 + 1G > A

Splice site

NF17-23

Ex31: c.5772_5775delTTTG

p.Cys1924TrpfsX4

4 bp deletion

(FS)

NF29a-5

Ex40: c.7237_7253del17

p.Gln2413fsX2

17 bp deletion

(FS)

L-002 F

Ex9: c.1246C > T p.Arg416X

Nonsense

Ex3: c.246_247delTC

p.Glu83SerfsX15

2 bp deletion

(FS)

3

L-002 A

Ex5: c.655-1G > T

Splice site

L-002 D

Ex8: c.1105C > T p.Gln369X

Nonsense

L-002 E

Ex8: c.1153delC

p.Arg385AlafsX2

1 bp deletion

(FS)

L-002 B

Ex22: c.3757_3764del8

p.Leu1253ThrfsX8

8 bp deletion

(FS)

NF282-1

Ex9: c.1260+1G > A

Splice site

Ex23.2: c.4021C > T

p.Gln1341X

Nonsense

8

NF282-2

Ex23.2: c.4084C > T

p.Arg1362X

Nonsense

T473.6

Ex10b: c.1413_1414delAG

p.Lys471AsnfsX1

2 bp deletion

(FS)

Ex7: c.890delA

p.Leu297SerfsX20

1 bp deletion

(FS)

4

T473.12

Ex12b: c.1884insA p.Tyr628X

1 bp insertion

(FS)

T473.11

Ex16: c.2451insG

p.Ser818ValfsX12

1 bp insertion

(FS)

T473.18

Ex22: c.3807insC

p.Ser1270LeufsX13

1 bp insertion

(FS)

T473.20

Ex23.2: c.4087delA

p.Ser1363ValfsX22

1 bp deletion

(FS)

T473.13

Ex31: c.5888A > C

p.Asn1963Thr

Missense

T473.33

Ex34: c.6478A > G

p.Ser2160Gly

Missense

T473.36

Ex38: c.6859delG

p.Asp2287ThrfsX18

1 bp deletion

(FS)

T473.17

Ex40: c.7128delG

p.Tyr2377ThrfsX23

1 bp deletion

(FS)

T82.3

Ex12a: c.1754_1757delTAAC

p.Thr585ValfsX18

4 bp deletion

(FS)

Ex16: c.2445delG

p.Arg815SerfsX5

1 bp deletion

(FS)

Unpublished data,

Cardiff

T82.5

Ex35: c.6621_6625delGTGGA

p.Gln2207HisfsX11

5 bp deletion

(FS)

T77.3

Ex12a: c.1783G > A

p.Glu595Lys

Missense

Ex16: c.2446C > T

p.Arg816X R

Nonsense

Unpublished data,

Cardiff

T77.1

Ex29: c.5242C > T

p.Arg1748X R

Nonsense

T77.4

Ex31: c.5839C > T

p.Arg1947X

Nonsense

T141.4

Ex13: c.2233delA

p.Ser745AlafsX2

1 bp deletion

(FS)

Ex12b: c.1885G > A

p.Gly629Arg

Missense

Unpublished data,

Cardiff

T141.13

Ex30: c.5731delT

p.Ser1911LeufsX9 R

2 bp deletion

(FS)

T133

Ex16: c.2446C > T

p.Arg816X

Nonsense

Ex31: c.5897dupAC

p.Glu1966HisfsX25

2 bp

duplication

(FS)

Unpublished data,

Cardiff

T137

Ex31: c.5898dupAC

p.Glu1966HisfsX25

2 bp

duplication

(FS)

T437

Ex17: c.2875C > T

p.Gln959X

Nonsense

Ex2: c.67A > T p.Ile23Leu

Missense

4

T441

Ex4b: c.586G > T p.Glu196X

Nonsense

T459

Ex10c: c.1641+2T > G

Splice site

T433

Ex10c: c.1660C > G

p.Gln554Glu

Missense

T469

Ex12a: c.1724delCACA

p.Ser575X

4 bp deletion

(FS)

T468

Ex13: c.2041C > T p.Arg681X

Nonsense

T472

Ex13: c.2088G > A p.Trp696X

Nonsense

T463

Ex16: c.2410-3T > G

Splice site

T451

Ex20: c.3449C > T

p.Ser1150Leu

Missense

T456

Ex22: c.3709-2A > G

Splice site

T450

Ex23.2: c.4084C > T

p.Arg1362X R

Nonsense

T442

Ex27b: c.4687_4691del5

p.Phe1563GlyfsX36

5 bp deletion

(FS)

T443

Ex27b: c.4693insG

p.Ala1565GlyfsX35

1 bp insertion

(FS)

T467

Ex29: c.5380C > T

p.Gln1794X

Nonsense

T457

Ex34: c.6448A > T

p.Lys2150X

Nonsense

T471

Ex38: c.6895delG

p.Val2299TrpfsX8

1 bp deletion

(FS)

T434

Ex44: c.7699C > T

p.Gln2567X

Nonsense

T435

Ex44: c.7702C > T

p.Gln2568X

Nonsense

T460

Ex46: c.7924delT

p.Ser2642LeufsX16

1 bp deletion

(FS)

CSG6N

Ex21: c.3525_3526delAA

p.Arg1176SerfsX18

2 bp deletion

(FS)

Ex4c: c.587-8del6 Splicing

effect?

Intronic

deletion

6, 7

CSG13N

Ex9: c.1260 + 1G > A

Splice site

CSG48N

Ex10c: c.1604A > G

p.Gln535Arg

Missense

CSG29N

Ex14: c.2266C > T p.Gln756X

Nonsense

CSG33N

Ex16: c.2816delA

p.Asn939IlefsX12

1 bp deletion

(FS)

CSG19N

Ex17: c.2928del13

p.Glu977AsnfsX3

13 bp deletion

(FS)

CSG26N

Ex26: c.4514 + 1G > C

Splice site

CSG44N

Ex31: c.5774delT

p.Leu1925TrpfsX4

1 bp deletion

(FS)

CSG8N

Ex33: c.6292_6322del31

p.Arg2098PhefsX21

31 bp deletion

(FS)

CSG30N

Ex45: c.7908-2A > T

Splice site

NF482-

UHG B

Ex21: c.3525_3526delAA

p.Arg1176SerfsX18

2 bp deletion

(FS)

Ex4a: c.359_375del17

p.Phe120X

17 bp deletion

(FS)

3

NF482-

UHG C

Ex4c: c.603_621del19

p.Phe201fsX4

19 bp deletion

(FS)

NF482-

UHG A

Ex8: c.1185 + 1G > A

Splice site

NF482-

UHG D

Ex14: c.2252-30_2252-

6del??insT

Indel (FS?)

T191.5

Ex22: c.3721C > T

p.Arg1241X

Nonsense

Ex4b: c.505_524del20

p.Glu169X

20 bp deletion

(FS)

Unpublished data,

Cardiff

T191.9

Ex10b: c.1417delA

p.Thr473GlnfsX24

1 bp deletion

(FS)

T191.1

Ex18: c.2991 + 1 G > A

Splice site

T191.2

Ex22: c.3721C > T

p.Arg1241X R

Nonsense

T175.1

Ex23.2: c.4084C > T

p.Arg1362X

Nonsense

Ex12a: c.1738insT

p.Tyr580LeufsX7 R

1 bp insertion

(FS)

Unpublished data,

Cardiff

T175.2

Ex31: c.5817C > A

p.Cys1939X R

Nonsense

T209.1ii

Ex28: c.4950C > A

p.Tyr1650X

Nonsense

Ex7: c.1062 + 1G > A R

Splice site

Unpublished data,

Cardiff

T209.7

Ex10a: c.1318C > T

p.Arg440X R

Nonsense

T209.8

Ex15: c. 2326G > A

p. Ala776Thr R

Missense?/

splicing?

T209.5

Ex25: c.4345delA

p.Ser1449AlafsX12

1 bp deletion

(FS)

T209.6

Ex37: c.6790_6806del17

p.Tyr2264AspfsX8

17 bp deletion

(FS)

T506.5

Ex36: c.6756 + 2T > G

Splice site

Ex4b: c.480delG

p.Arg160SerfsX5

1 bp deletion

(FS)

4

T506.2

Ex6: c.731_732delAA

p.Glu244ValfsX5

2 bp deletion

(FS)

T506.4

Ex17: c.2987insAC

p.Val996AspfsX17

2 bp insertion

(FS)

T506.8

Ex19b: c.3306insA

p.Phe1103IlefsX2

1 bp insertion

(FS)

T506.1

Ex22: c.3745_3764del20

p.Ser1249ThrfsX7

20 bp deletion

(FS)

T506.9

Ex33: c.6364del114

p.Glu2122 (through splice site)

114 bp

deletion (FS)

T506.6

Ex40: c.7127-3T > G

Splice site

T106.3

Ex37: c.6791insA p.Tyr2264Xfs

1 bp insertion

(FS)

Ex13: c.2033delC

p.Pro678GlnfsX9 R

1 bp deletion

(FS)

Unpublished data,

Cardiff

T106.4

Ex26: c.4374_4375delCC

p.Leu1459X R

2 bp deletion

(FS)

T175.1

Ex37: c.6792C > G

p.Tyr2264X

Recurrent

nonsense

mutation that

causes a

splicing defect

Ex12a: c.1738insT

p.Tyr580LeufsX7 R

1 bp insertion

(FS)

Unpublished data,

Cardiff

T143.2

Ex19a: c.3124delGTAGinsAT

p.Val1042IlefsX16

Indel (FS)

T143.13

Ex30: c.5731delT

p.Ser1911LeufsX9 R

1 bp deletion

(FS)

T175.2A

Ex31: c.5817C > A

p.Cys1939X R

Nonsense

T541.3

Ex40: c.7127_7258del132

p.Gly2376. Is this a complete

exon 40 deletion??

132 bp Inframe deletion

(FS) Complete

exon 40

deletion ??

Ex12b: c.1888delG

p.Val630X R

1 bp deletion

(FS)

Unpublished data,

Cardiff

T541.1

Ex27b: c.4743insG

p.Asp1582GlufsX18

1 bp insertion

(FS)

T536B

Ex40: c.7169delG

p.Arg2390LysfsX6

1 bp deletion

(FS)

T210.1

Ex42: c.7458delC

p.Tyr2487Ilefs

1 bp deletion

(FS)

Ex7: c.1062 + 1G > A R

Splice site

Unpublished data, Cardiff

T210.6

Ex22: c.3870 + 2T > A

Splice site

T181.3

E6-27b: Partial deletion of

gene 90 kb

Partial gene

deletion

Ex3: c.227insG

p.Glu76GlyfsX30

1 bp insertion

(FS)

Unpublished data,

Cardiff

T211.2

Ex7: c.910C > T

p.Arg304X R

Nonsense

T211.3

Ex17: c 2855T > A

p.Leu952X

Nonsense

T34.1

Ex23.2: c 4108C > T

p.Gln1370X

Nonsense

T150.2

Ex34: c.6410delT

p.Leu2137TyrfsX40

1 bp deletion

(FS)

T181.1

Ex34: c.6409_6410delTT

p.Leu2137ThrfsX19

2 bp deletion

(FS)

T198

Ex42: c.7449delT

p.Ala2484GlnfsX18

1 bp deletion

(FS)

C176_3

NF1 microdeletion

Genomic

deletion

Ex4a: c.479 + 1G > A

Splice site

2

C174

Ex15: c.2326- ?_2409

Complete exon 15 deletion ?

Exon

deletion?

C186

Ex17: c.2990 + 1G > A R

Splice site

C176_1

Ex28: c.4812C > G

p.Tyr1604X R

Nonsense

C176_2

Ex31: c.5927G > A

p.Trp1976X R

Nonsense

L-001 D

NF1 microdeletion

Genomic

deletion

Ex4a: c.396_403del8

p.Leu134PhefsX21

8 bp deletion

(FS)

3

L-001 B

Ex19a: c.3189T > A

p.Cys1063X

Nonsense

L-001 E

Ex22: c.3774G > A

p.Trp1258X

Nonsense

L-001 C

Ex23.2: c.4086_4092del7

p.Arg1362AlafsX20

7 bp deletion

(FS)

L-001 A

Ex28: c.5026_5032del7

p.Leu1676Alafs10

17 bp deletion

(FS)

NF96-1 E

NF1 microdeletion

Genomic

deletion

Ex13: c.2050C > T

p.Glu684X

Nonsense

3

NF96-1 B

Ex20: c.3330delT

p.Phe1110LeufsX2

1 bp deletion

(FS)

NF96-1 A

Ex41: c.7394 + 1G > A

Splice site

NF96-1 C

Ex42: c.7438delG

p.Glu2480LysfsX22

1 bp deletion

(FS)

NF339-

UHG B

NF1 microdeletion

Ex3: c.288 + 2T > G

Splice site

3

NF339-

UHG C

Ex7: c.1007G > A

p.Trp336X

Nonsense

NF339-

UHG D

Ex15: c.2409 + 1G > A

Splice site

NF339-

UHG A

Ex27b: c.4697T > A

p.Leu1566X

Nonsense

T49.2

Ex1-42: gene deletion

E1-42: gene

deletion

Ex8: c.1177C > G

p.His393Asp

Missense

Unpublished data,

Cardiff

T49.8

Ex8: c.1178A > T

p.His393Leu

Missense

T49.1

Ex8: c.1181_1182delTT

p.Phe394X

2 bp deletion

(FS)

T49.5

Ex16: c.2446C > T

p.Arg816X R

Nonsense

T49.7

Ex17: c.2953C > T

p.Gln985X

Nonsense

T49.3

Ex24: c.4114_4115delGT

p.Val1372X

2 bp deletion

(FS)

T51.3

Whole gene deletion

Genomic

deletion

Ex7: c.1062 + 1G > A R

Splice site

Unpublished data,

Cardiff

T51.6

Ex8: c.1179_1180delCT

p.Phe394LeufsX18

2 bp deletion

(FS)

T51.5

Ex11: c.1645_1646delCT

p.Leu549AlafsX1

2 bp deletion

(FS)

T51.4

Ex16: c.2464G > T

p.Gly822X

Nonsense

T51.7

Ex41: c.7285C > T

p.Arg2429X R

Nonsense

T176.3

Large deletion

Genomic

deletion

Ex23.2: c.4110 + 1G > C

Splice site

Unpublished data,

Cardiff

T176.1

Ex28: c.4812C > G

p.Tyr1604X R

Nonsense

T176.2

Ex31: c.5928G > A

p.Trp1976X R

Nonsense

T217

Ex1: c.61-1G > C

Splice site

Ex12b: c.1900_1907del8

p.Ile634X

8 bp deletion

(FS)

Unpublished data,

Cardiff

T1440

Ex3: c.264_267delTACA

p.Thr89Trpfs

4 bp deletion

(FS)

Ex3: c.271G > A p.Glu91Lys

Missense

Unpublished data,

Cardiff

T183.1

Ex4a: c.373delGinsATGTGT

p.Arg125fs

Indel (FS)

Ex42: c.7449_7458del10

p.Leu2483IlefsX15

10 bp deletion (FS)

Unpublished data, Cardiff

T139

Ex4a: c.434_435delTC

p.Leu145GlufsX19

2 bp deletion

(FS)

Ex27a: c.4637C > G

p.Ser1546X

Nonsense

Unpublished data,

Cardiff

T108.12

Ex7: c.889-2A > G

Splice site

Ex7: c.910C > T p.Arg304X R

Nonsense

25

T199.1

Ex7: c.983_984delGT

p.Cys328Xfs

2 bp deletion

(FS)

Ex4b: c.528T > A

p.Asp176Glu

Missense

Unpublished data,

Cardiff

T374.5

Ex10a: c.1318C > T

p.Arg440X

Nonsense

Ex23.1: c.3916C > T

p.Arg1306X R

Nonsense

Unpublished data,

Cardiff

T996

Ex10b: c.1393-32T > C

Splice site

Ex6: c.731-11 T > G

Splice site

Unpublished data,

Cardiff

T227.3

Ex10b: c.1423insC

p.Leu475ProfsX9

1 bp insertion

(FS)

Ex15: c.2326-12C > T

Splice site

Unpublished data,

Cardiff

T161.4

Ex10b: c.1466A > G

p.Tyr489Cys

Missense

Ex17: c.2990 + 1G > A R

Splice site

Unpublished data,

Cardiff

T161.3

Ex10b: c.1466A > G

p.Tyr489Cys

Missense

Ex22: c.3721insC

p.Arg1241ProfsX7

1 bp insertion

(FS)

Unpublished data,

Cardiff

T214

Ex10b complete exon deletion

Single exon

deletion

Ex22: c.3826C > T

p.Arg1276X

Nonsense

Unpublished data,

Cardiff

CLJ8N

Ex13: c.2041C > T p.Arg681X

Nonsense

Ex13: c.2246C > G p.Ser749X

Nonsense

6, 7

T170.1A

Ex13: c.2041C > T p.Arg681X

Nonsense

Ex12a: c.1797G > A

p.Trp599X

Nonsense

Unpublished data, Cardiff

T1243

Ex13: c.2197_2214del17

p.Pro733fs

17 bp deletion

(FS)

Ex36: c.6709C > T

p.Arg2237X

Nonsense

Unpublished data,

Cardiff

NF253-

UHG D

Ex16: c.2850 + 2A > G

Splice site

Ex11: c.1663_1666delTTAG

p.Leu555IlefsX12

4 bp deletion

(FS)

3

T193

Ex17: c.2870delA

p.Asp957Ilefs

1 bp deletion

(FS)

Ex10a: c.1312G > T

p.Glu438X

Nonsense

Unpublished data,

Cardiff

L-004 D

Ex18: c.3113G > A

p.Arg1038Lys

Missense

Ex27b: c.4729delA

p.Thr1577LeufsX23

1 bp deletion

(FS)

3

HT1359.2

Ex18: c.3113 + 1G > A

Splice site

Ex10a: c.1277G > A

p.Trp426X R

Nonsense

Unpublished data,

Cardiff

T140.4

Ex22: c.3732delT

p.Thr1245LeufsX21

1 bp deletion

(FS)

Ex41: c.7285C > T

p.Arg2429X R

Nonsense

25

T37.1

Ex23.2: c.4084C > T

p.Arg1362X

Nonsense

Ex10b: c.1467T > G

p.Tyr489X

Nonsense

Unpublished data,

Cardiff

T205.1

Ex24: c.4196C > A

p.Ser1399X

Nonsense

Ex27a: c.4537C > T

p.Arg1513X R

Nonsense

Unpublished data,

Cardiff

T450.3

Ex27a: c.4537C > T

p.Arg1513X

Nonsense

Ex4b: c.574C > T

p.Arg192X R

Nonsense

Unpublished data,

Cardiff

T209.8

Ex:28: c.4950 C > G

p.Tyr1650X

Nonsense

Ex10a: c.1318 C > T

p.Arg440X R

Nonsense

Unpublished data,

Cardiff

NF116-

UHG A

Ex28: c.5122insG

p.Ala1708GlyfsX27

1 bp insertion

(FS)

Ex27a: c.4537C > T

p.Arg1513X R

Nonsense

3

T1308

Ex29: c.5546 + 19 T > A

Splice site

Ex22: c.3827G > A

p.Arg1276Gln

Missense

Unpublished data,

Cardiff

T149.5C

Ex34:

c.6512delATGAGAGAinsC

p.Tyr2171fs

Indel (FS)

Ex7: c.988G > A

p.Ala330Thr

Missense

Unpublished data,

Cardiff

T89.1

Ex37: c.6789_6792delTTAC

p.Asp2264ThrfsX5

4 bp deletion

(FS)

Ex12b: c.1888delG

p.Val630X R

1 bp deletion

(FS)

25

T106.1

Ex37: c.6791insA

p.Tyr2264XfsX1

1 bp insertion

(FS)

Ex13: c.2033delC

p.Pro678GlnfsX9 R

1 bp deletion

(FS)

25

L-004 B

Ex37: c.6791insA

p.Tyr2264XfsX1

1 bp insertion

(FS)

Ex23.1: c.3871_3974del103

Complete exon 23.1 deletion ?

103 bp

deletion (FS)

3

T1200

Ex37: c.6791insA

p.Tyr2264XfsX1

1 bp insertion

(FS)

Ex16: c.2825G > T

p.Ser942Ile

Missense

Unpublished data,

Cardiff

CLO1N

Ex37: c.6792C > A

p.Tyr2264X

Nonsense

mRNA study: Exon 4c skipped

Splice site?

6, 7

T1229

Ex39: c.7049_7064del16

p.Cys2350PhefsX19

16 bp deletion

(FS)

Ex13: c.2203T > C

p.Tyr735His

Missense

Unpublished data,

Cardiff

T164.1E

Ex41: c.7285C > T

p.Arg2429X

Nonsense

Ex23.2: c.4084C > T

p.Arg1362X R

Nonsense

Unpublished data,

Cardiff

T157.1A

Ex45: c.7907 + 3A > T

Splice site

Ex20: c.3492delC

p.Ile1165SerfsX2

1 bp deletion

(FS)

Unpublished data,

Cardiff

T98.6

1.5 Mb deletion

Genomic

deletion

Ex34: c.6387A > C

p.Arg2129Ser

Missense

25

T98

Complete gene deletion

Genomic

deletion

Ex20: c.3457_3460del4

p.Leu1153MetfsX3

4 bp deletion

(FS)

Unpublished data,

Cardiff

T158.1

Complete gene deletion

Genomic

deletion

Ex18: c.3058delG

p.Glu1020LysfsX2 R

1 bp deletion

(FS)

Unpublished data,

Cardiff

CCF1N

Complete gene deletion

Genomic

deletion

mRNA study: exons 12a and

12b skipped

Splice site?

5, 6

UWA128-

3

NI

NI

Ex4b: c.543_546delGTAT

p.Tyr182SerfsX7

4 bp deletion

(FS)

38

T219.1

NI

NI

Ex9: c.1225_1226delGT

p.Val409AlafsX18

2 bp deletion

(FS)

Unpublished data,

Cardiff

T116

NI

NI

Ex10c: c.1541_1542delAG

p.Gln514ArgfsX43

2 bp deletion

(FS)

25

T198.1

NI

NI

Ex10c: c.1555C > T

p.Gln519X

Nonsense

Unpublished data,

Cardiff

T128.17

NI

NI

Ex10c: c.1556A > C

p.Gln519Pro R

Missense

25

T198.2

NI

NI

Ex12a: c.1792A > T

p.Lys598X

Nonsense

Unpublished data,

Cardiff

T63.2

NI

NI

Ex13: c.2088delG p.Trp696X

1 bp deletion

(FS)

25

T146.5

NI

NI

Ex15: c.2326G > A

p.Ala776Thr R

Missense/

splicing?

Unpublished data,

Cardiff

T63.8

NI

NI

Ex15: c.2341_2358del18

p.His781Ala (in-frame)

18 bp deletion

(in-frame)

25

T1265.2

NI

NI

Ex17: c.2851-16T > C

Splice site

Unpublished data,

Cardiff

T233.1

NI

NI

Ex17: c.2879del38 p.Phe960X

38 bp deletion

(FS)

T158.2

NI

NI

Ex18: c.3058delG

p.Glu1020LysfsX2 R

1 bp deletion

(FS)

T158.4

NI

NI

Ex18: c.3058delG

p.Glu1020LysfsX2 R

1 bp deletion

(FS)

T192.1

NI

NI

Ex18: c.3113 + 1G > A R

Splice site

T192.2

NI

NI

Ex18: c.3113 + 1G > A R

Splice site

NF260-1

NI

NI

Ex22: c.3721C > T

p.Arg1241X R

Nonsense

8

38

NI

NI

Ex22: c.3727_3728delCT

p.Leu1243GlyfsX5

2 bp deletion

(FS)

18

T94

NI

NI

Ex23.2: c.4083insT

p.Arg1362SerfsX12

1 bp insertion

(FS)

25

T565

NI

NI

Ex25: c. 4270-2A > G

Splice site

Unpublished data,

Cardiff

T106.3

NI

NI

Ex26: c.4374_4375delCC

p.Asp1460X R

2 bp deletion

(FS)

25

T81.1

NI

NI

Ex27b: c.4662-5C > T

Splice site

25

T1284.5

NI

NI

Ex27b: c.4772 + 5G > A

Splice site

Unpublished data,

Cardiff

20

NI

NI

Ex33: c.6253_6354 + 5del117

p.Val2085 (through splice site)

17 bp deletion

(FS)

18

44

NI

NI

Ex40: c.7127-44_7174del92

p.Gly2376ValfsX8

92 bp deletion

(FS)

18

PNFs

45

Ex3: c.264_267delTACA

p.Thr89TrpfsX8

4 bp deletion

(FS)

Ex3: c.271G > A p.Glu91Lys

Missense

10

T399

Ex3: c.264_267delTACA

p.Thr89TrpfsX8

4 bp deletion

(FS)

Ex3: c.271G > T p.Glu91X

Nonsense

Unpublished data,

Cardiff

T7

Ex4a: c.479 + 1G > A

Splice site

Ex16: c.2446C > T

p.Arg816X R

Nonsense

39

19 UK

Ex7: c.910C > T p.Arg304X

Nonsense

Ex8: c.1177_1178delCA

p.His393LeufsX16

2 bp deletion

(FS)

Unpublished data,

Cardiff

c3 UK

Ex8: c.1063-2A > G

Splice site

Ex7: c.910C > T p.Arg304X R

Nonsense

14b

Ex13: c.2076C > G p.Tyr692X

Nonsense

Ex4b: c.532_558del27

p.Glu178 R

27 bp deletion

(in-frame)

T318

Ex13: c.2076C > G p.Tyr692X

Nonsense

Ex4b: c.532_558del27

p.Glu178 R

27 bp deletion

(in-frame)

T381.1

E18: c.3113 + 1G > A

Splice site

Ex10a: c.1277G > A

p.Trp426X R

Nonsense

T381.2

Ex18: c.3113 + 1G > A R

Splice site

31

Ex29: c.5234C > G

p.Ser1745X

Nonsense

Ex9: c.1246C > T p.Arg416X

Nonsense

c4 UK

Ex33: c.6289_6290insA

p.Leu2097fsX2

1 bp insertion

(FS)

Ex27b: c.4706T > G

p.Leu1569X R

Nonsense

T155

Ex33: c.6291insA

p.Leu2097XfsX9

1 bp insertion

(FS)

Ex27b: c.4706T > G

p.Leu1569X R

Nonsense

24

Complete gene deletion

Genomic

deletion

Ex4b: c.528T > A

p.Asp176Glu

Missense

Unpublished data,

Cardiff

T323

Complete gene deletion

(1.4 Mb ?)

Genomic

deletion

Ex26: c.4501_4502delCT

p.Leu1501PhefsX7 R

2 bp deletion

(FS)

T369

Complete gene deletion

(1.4 Mb ?)

Genomic

deletion

Ex26: c.4501_4502delCT

p.Leu1501PhefsX7 R

2 bp deletion

(FS)

c2 UK

NI

NI

Ex23.2: c.4083insT

p.Arg1362SerfsX12

1 bp insertion

(FS)

Unpublished data,

Cardiff

42

NI

NI

Ex27a: c.4515-2A > G

Splice site

T329 ?

NI

NI

Ex7: c.952_953delGA

p.Glu318LysfsX11

2 bp deletion

(FS)

Spinal neurofibromas

1

Ex7: c.899T > C p.Leu300Pro

Missense

Ex24: c.4111-2A > G

Splice site

16

13

1.4 Mb deletion

Genomic

deletion

Ex21_22 splice site mutation?

Splice site?

6

1.4 Mb deletion

Genomic

deletion

Ex27b: c.4690A > G

p.Lys1564Glu

Missense

MPNSTs

53

Ex4b: c.574C > T p.Arg192X

Nonsense

Ex24: c.4203insT p.Glu1402X

1 bp insertion

(FS)

18

T168

Ex5: c.663G > A p.Trp221X

Nonsense

Ex34: c.6444delA

p.Val2149SerfsX28

1 bp deletion

(FS)

T185

Ex6: c.773delA

p.Ser259AlafsX21

1 bp deletion

(FS)

Ex34: c.6410delT

p.Leu2137TyrfsX41

1 bp deletion (FS)

37

Ex16: c.2446C > T p.Arg816X

Nonsense

Ex6: c.731-5_741del19

through a splice site

19 bp deletion

(FS)

17

Ex20: c.3457_3460delCTCA

p.Leu1153MetfsX4

2 bp deletion

(FS)

Ex31: c.5789delC

p.Pro1930HisfX6

1 bp deletion

(FS)

17

20

1.4 Mb deletion

Genomic

deletion

Ex10c: c.1532delC

p.Pro511GlnfsX14

1 bp deletion

(FS)

17

44

Complete gene deletion

Genomic

deletion

Ex16: c.2446C > T

p.Arg816X R

Nonsense

18

T184

Segmental NF NI

NI

Ex27a: c.4580_4590del11

p.Pro1527GlnfsX11 R

11 bp deletion

(FS)

18

11

NI

NI

Ex27a: c.4580_4590del11

p.Pro1527GlnfsX11 R

11 bp deletion

(FS)

17

38

NI

NI

Ex12a: c.1831delCinsTT

p.Leu611PhefsX3

Indel (FS)

18

GISTs

NF1-1a

Ex24: c.4269 + 1G > T

Splice site

Ex29: c.5546 + 2T > A

Splice site

3

NF1-1b

Ex29: c.5242C > T

p.Arg1748X R

Nonsense

NF1-2a

Ex37: c.6791insA p.Tyr2264X

1 bp insertion

(FS)

Ex3: c.279T > A

p.Cys93X

Nonsense

3

NF1-2c

Ex10c: c. del21

21 bp in-frame

deletion

NF1-2b

Ex45: c.7846C > T

p.Arg2616X

Nonsense

JMML

D127

Ex14:

c.2288_2295dupTGAGGCGC

/Ex20: c.3366delT

Compound

heterozygous

NF1mutations

found in

blood cells

Ex14:

c.2288_2295dupTGAGGCGC

/Ex20: c.3366delT

Compound

heterozygous

NF1mutations

found in

blood cells

31

CZ051

Ex12a: c.1748A > G

p.Lys583Arg/Ex13:

c.2027delC p.T676TfsX11

Ex12a: c.1748A > G

p.Lys583Arg/Ex13:

c.2027delC p.T676TfsX11

D530

Ex6: c.821T > G p.Leu274Arg

/Ex34: c.6579 + 1G > C

With no

other tissue

analysed,

unable to

differentiate

germline from

somatic

NF1mutations

Ex6: c.821T > G p.L274R/

Ex34: c.6579 + 1G > C

With no

other tissue

analysed,

unable to

differentiate

germline from

somatic

NF1mutations

32

SC049

Ex3: c.205-2A > G/Ex23.2:

c.4084C > T p.Arg1362X

Ex3: c.205-2A > G/Ex23.2:

c.4084C > T p.R1362X

SCO87

Ex4b: c.482T > G p.Leu161X

/Ex4b: c.495_498delTGTT

p.T165TfsX11

Ex4b: c.482T > G p.L161X/

Ex4b: c.495_498delTGTT

p.T165TfsX11

D252

NI

NI

Ex29: c.5242C > T

p.Arg1748X R

Nonsense

Glomus tumours

NF1-G8

Ex4a: c.311T > G p.Leu104X

Nonsense

Ex44: c.7727C > A

p.Ser2576X

Nonsense

36

NF1-G3

Ex16: c.2546insG

p.Val850SerfsX15

1 bp insertion

(FS)

Ex29: c.5539_5546dup8

p.Ser1850ValfsX15

8 bp

duplication

(FS)

NF1-G5

Ex27a: c.4515-2A > T

Splice site

Ex18: c.3113 + 1G > C

Splice site

NF1-G1

mRNA study: Exon 29

partially skipped

Splice site?

Ex4a: c.403delC

p.Arg135GlyfsX30

1 bp deletion

(FS)

NF1-

G10a

Ex37: c.6789_6792delTTAC

p.Tyr2264AspfsX5

4 bp deletion

(FS)

Ex2: c.204 + 1G > A

Splice site

NF1-

G10b

Ex43: c.7600_7621del22

p.Lys2534GlyfsX8

22 bp deletion

(FS)

ACs

No NF1 somatic mutations

identified

No NF1 somatic mutations

identified

Gastric carcinoid tumours

No NF1 somatic mutations

identified

No NF1 somatic mutations

identified

PCs

No NF1 somatic mutations

identified

No NF1 somatic mutations

identified