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Table 3 Mutations identified in the GRC Custom 5-gene panel stratified according to the exon, number of samples and, in some cases, the different genes (NOTCH3, CACNA1A and ATP1A2)

From: Investigating diagnostic sequencing techniques for CADASIL diagnosis

Mutation

No. of samples

Cysteine altering

Exon/intron

Between exons 2 and 24

rs number

HGMD disease causing

p.Arg54Cys

2

Y

2

Y

–

HGMD CM003012

p.Asp45His

1

N

2

Y

rs142031490

–

p.Gly53Ser

1

N

2

Y

–

HGMD CM106869

p.Arg113Ter

1

N

3

Y

–

–

p.Arg90Cys

1

Y

3

Y

–

HGMD CM971055

p.Arg133Cys

1

Y

4

Y

rs137852642

HGMD CM971057

p.Arg141Cys

2

Y

4

Y

–

HGMD CM971058

p.Arg153Cys

3

Y

4

Y

–

HGMD CM971060

p.Arg169Cys

1

Y

4

Y

rs28933696

HGMD CM961043

p.Arg182Cys

2

Y

4

Y

rs28933697

HGMD CM961044

p.Asp139Val

1

N

4

Y

rs766608781

–

p.Cys183Arg

1

Y

4

Y

–

HGMD CM001270

p.Cys224Tyr

1

Y

4

Y

–

HGMD CM971065

p.Asp239Asn

1

N

5

Y

–

–

p.Cys233Tyr

1

Y

5

Y

–

HGMD CM052273

p.Cys260Arg

2

Y

5

Y

–

HGMD CM095351

p.Arg332Cys

1

Y

6

Y

rs137852641

HGMD CM014070

p.Cys271Tyr

1

Y

6

Y

–

HGMD CM060011

p.Cys291Ser

1

Y

6

Y

–

–

p.Cys318Phe

1

Y

6

Y

–

–

p.Ser299Arg

1

N

6

Y

–

–

p.Arg449Cys

1

Y

8

Y

–

HGMD CM023659

p.Cys473Leu

1

Y

9

Y

–

–

p.Gly490Ala

1

N

9

Y

rs374248747

–

p.Tyr465Cys

1

Y

9

Y

–

HGMD CM035647

p.Thr514Met

1

N

10

Y

–

–

p.Arg544Cys

1

Y

11

Y

rs201118034

HGMD CM994179

p.Arg587Cys;Arg587Cys

1

Y

11

Y

–

HGMD CM061879

p.Arg607His

1

N

11

Y

rs747661515

HGMD CM003019

p.Asp547Gly

1

N

11

Y

–

–

p.Cys597Trp

1

Y

11

Y

–

–

p.Arg640Cys

1

Y

12

Y

–

HGMD CM125168

p.Arg640Cys

1

Y

12

Y

–

HGMD CM125168

p.Val644Asp

1

N

12

Y

rs148046938

–

p.Pro857Leu

1

N

17

Y

–

–

p.Cys977Gly

1

Y

18

Y

–

HGMD CM050017

p.Arg1006Cys

1

Y

19

Y

–

HGMD CM971069

p.Arg1100Leu

1

N

20

Y

–

–

p.Tyr1106Cys

1

Y

20

Y

–

–

p.Cys1119Tyr

1

Y

21

Y

–

–

p.Arg1231Cys

1

Y

22

Y

rs201680145

HGMD CM971071

p.Arg587Ser

1

N

22

Y

–

HGMD CM061879

p.Leu1518Met

1

N

25

N

rs148166997

HGMD CM119551

p.Glu2268Lys

1

N

33

N

–

–

p.Pro2178Ser

1

N

33

N

–

–

chr19:15311579_15311580delinsTA

1

N

Intron 1

N

–

–

p.Ala987Ser (CACNA1A)

1

–

–

–

–

–

p.Asp1723Asn (CACNA1A)

1

–

–

–

rs368257155

–

p.Glu219Gln (ATP1A2)

1

–

–

–

–

–