| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.66398520T>C | CA8093104 | CDH5 | c.1550T>C (p.Ile517Thr) c.-134T>C (n.-134T>C) c.*673T>C (n.*673T>C) c.1205T>C (p.Ile402Thr) c.1577T>C (p.Ile526Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.66398520T>A | CA396194276 | CDH5 | c.1550T>A (p.Ile517Asn) c.-134T>A (n.-134T>A) c.*673T>A (n.*673T>A) c.1205T>A (p.Ile402Asn) c.1577T>A (p.Ile526Asn) | dbSNP gnomAD v4 |
| 16 | g.66398520T= | CA2228852428 | CDH5 | c.1550T= (p.Ile517=) c.-134T= (n.-134T=) c.*673T= (n.*673T=) c.1205T= (p.Ile402=) c.1577T= (p.Ile526=) | dbSNP dbSNP |