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Table 1 NGS Genetic Information of mutation of proband and proband's father

From: A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia

DNA Sample Blood of the Proband’s Father Blood of the Proband Tissue of the Proband
gene RASA1 RASA1 RASA1
chr:posi 5:86686626 5:86686626 5:86686626
ref > alt A > T A > T A > T
type SNV SNV SNV
geno 0/1 0/1 0/1
AD 8787 + 7664 8491 + 7769 10,029 + 10,997
hgvs_c c.3070A > T c.3070A > T c.3070A > T
hgvs_p p.Lys1024* p.Lys1024* p.Lys1024*
impact stop gained stop gained stop gained
impact_severity HIGH HIGH HIGH
aaf_1kg_eas None None None
in_exac None None None