Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.25770933G>C | CA10159903 | MYO18B | c.1641G>C (p.Trp547Cys) n.212G>C c.1767G>C (p.Trp589Cys) c.1284G>C (p.Trp428Cys) c.-753G>C (n.-753G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.25770933G>A | CA411005666 | MYO18B | c.1641G>A (p.Trp547Ter) n.212G>A c.1767G>A (p.Trp589Ter) c.1284G>A (p.Trp428Ter) c.-753G>A (n.-753G>A) | dbSNP COSMIC |
22 | g.25770933G>T | CA411005667 | MYO18B | c.1641G>T (p.Trp547Cys) n.212G>T c.1767G>T (p.Trp589Cys) c.1284G>T (p.Trp428Cys) c.-753G>T (n.-753G>T) | dbSNP gnomAD v4 |