Table 1.
Pathogenic and likely pathogenic variants in known and candidate genes associated with BAVM
| Patient | Inheritance | Zygosity | Chr | Position | Mutation type | Gene symbol | Ref transcript | Variant nomenclature | VR/TR | ExAC AF-East Asian | ExAC AF-total |
| Pathogenic variants | |||||||||||
| AVM306 | de novo | Het | 17 | 6406847 | Stop-gain | PITPNM3 | NM_031220.3 | c.274C>T (p.Arg92Ter) | 8/29 | 0 | 0 |
| AVM464 | de novo | Het | 1 | 109778600 | Missense | SARS | NM_006513.3 | c.971T>C (p.Ile324Thr) | 36/61 | 0 | 0 |
| AVM334 | de novo | Het | 12 | 65640008 | Missense | LEMD3 | NM_001167614.1 | c.2636C>G (p.Thr879Ser) | 61/114 | 0 | 0 |
| AVM558 | Maternal | Het | 9 | 130587149 | Frameshift | ENG | NM_000118.3 | c.920dupA (p.Asn307LysfsTer27) | 29/42 | 0 | 0 |
| Likely pathogenic variants | |||||||||||
| AVM028 | de novo | Het | 22 | 33253342 | Missense | TIMP3 | NM_000362.4 | c.311T>C (p.Leu104Pro) | 35/64 | 0 | 0 |
| AVM359 | de novo | Het | 11 | 9055289 | Missense | SCUBE2 | NM_001170690.1 | c.1592G>A (p.Cys531Tyr) | 22/44 | 0 | 0 |
| AVM558 | de novo | Het | 2 | 102476316 | Missense | MAP4K4 | NM_001242559.1 | c.1694G>A (p.Arg565Gln) | 42/97 | 0 | 0 |
| AVM206 | de novo | Het | 18 | 25565098 | Missense | CDH2 | NM_001792.3 | c.2075A>G (p.Asn692Ser) | 97/197 | 0 | 0 |
| AVM467 | de novo | Het | 3 | 57139956 | Missense | IL17RD | NM_017563.3 | c.676G>A (p.Gly226Ser) | 35/71 | 0 | 0.000075 |
| AVM457 | de novo | Het | 8 | 69030813 | Missense | PREX2 | NM_024870.2 | c.3355G>A (p.Ala1119Thr) | 23/56 | 0 | 0.0000082 |
| AVM427 | de novo | Het | 5 | 79747363 | Missense | ZFYVE16 | NM_014733.3 | c.3442G>T (p.Asp1148Tyr) | 32/58 | 0 | 0 |
| AVM312 | Paternal | Het | 7 | 55238010 | Stop-gain | EGFR | NM_201284.1 | c.1891G>T (p.Glu631Ter) | 42/84 | 0 | 0 |
AF, allele frequency; BAVM, brain arteriovenous malformation; Chr, chromosome; ExAC, Exome Aggregation Consortium; pLI, probability of loss-of-function intolerance; Ref, reference; VR/TR,variant reads/total reads.