| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.27204929G>T | CA5016450 | TEK | c.2228G>T (p.Gly743Val) c.2099G>T (p.Gly700Val) c.1787G>T (p.Gly596Val) c.*729G>T (n.*729G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.27204929G>C | CA5016449 | TEK | c.2228G>C (p.Gly743Ala) c.2099G>C (p.Gly700Ala) c.1787G>C (p.Gly596Ala) c.*729G>C (n.*729G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.27204929G>A | CA5016451 | TEK | c.2228G>A (p.Gly743Glu) c.2099G>A (p.Gly700Glu) c.1787G>A (p.Gly596Glu) c.*729G>A (n.*729G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |