| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.41159152G>A | CA204546 | C6 | c.1786C>T (p.Arg596Ter) n.330C>T c.1813C>T (p.Arg605Ter) c.1870C>T (p.Arg624Ter) c.1843C>T (p.Arg615Ter) c.1426C>T (p.Arg476Ter) c.886C>T (p.Arg296Ter) n.812-2161G>A n.319-2161G>A n.770-2161G>A n.812-42124G>A n.1833-2161G>A c.1399C>T (p.Arg467Ter) n.325-2161G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.41159152G>C | CA359597285 | C6 | c.1786C>G (p.Arg596Gly) n.330C>G c.1813C>G (p.Arg605Gly) c.1870C>G (p.Arg624Gly) c.1843C>G (p.Arg615Gly) c.1426C>G (p.Arg476Gly) c.886C>G (p.Arg296Gly) n.812-2161G>C n.319-2161G>C n.770-2161G>C n.812-42124G>C n.1833-2161G>C c.1399C>G (p.Arg467Gly) n.325-2161G>C | dbSNP gnomAD v4 |