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 |