| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.69433088C>G | CA3294271 | MARVELD2 | c.1498C>G (p.Arg500Gly) c.1150C>G (p.Arg384Gly) c.1462C>G (p.Arg488Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69433088C>T | CA114831 | MARVELD2 | c.1498C>T (p.Arg500Ter) c.1150C>T (p.Arg384Ter) c.1462C>T (p.Arg488Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69433088C= | CA1553927559 | MARVELD2 | c.1498C= (p.Arg500=) c.1150C= (p.Arg384=) c.1462C= (p.Arg488=) | dbSNP |