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Table 3 Summary of variants related to syndromes in syndromic brain arteriovenous malformation

From: Mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation

Gene

Patient ID

Chr

Position

Zygosity

Mutation type

Variant nomenclature

VR:TR

CADD score

gnomAD_EAS_AF

ENG

BAVM1

9

130587169

Het

Missense

c.901G>C

39:73

16.89

0

ACVRL1

BAVM2

12

52309874

Het

Missense

c.1103C>T

38:65

29.2

0

BMPR2

BAVM3

BAVM4

BAVM5

2

2

2

203383698

203421066

203421066

Het

Het

Het

Missense

Missense

Missense

c.775C>T

c.2678G>A

c.2678G>A

39:65

47:99

47:99

31

24.4

24.4

0

0

0

RASA1

BAVM6

BAVM7

5

5

86649000

86685291

Het

Het

Missense

Missense

c.1280G>A

c.3007G>A

38:72

28:67

25.6

25.3

0.0001095

0.00005439

  1. AF allele frequency, BAVM brain arteriovenous malformation, CADD combined annotation-dependent depletion, Chr chromosome, EAS East Asian, gnomAD Genome Aggregation Database, Het heterozygous, VR:TR variant reads: total reads