| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104162023G>C | CA378091921 | CFAP43 | c.3352C>G (p.Arg1118Gly) c.1434C>G c.3355C>G (p.Arg1119Gly) c.3469C>G (p.Arg1157Gly) c.2698C>G (p.Arg900Gly) c.1252C>G (p.Arg418Gly) c.3466C>G (p.Arg1156Gly) c.3121C>G (p.Arg1041Gly) c.1855C>G (p.Arg619Gly) n.3238C>G | dbSNP gnomAD v4 |
| 10 | g.104162023G>A | CA5680324 | CFAP43 | c.3352C>T (p.Arg1118Ter) c.1434C>T c.3355C>T (p.Arg1119Ter) c.3469C>T (p.Arg1157Ter) c.2698C>T (p.Arg900Ter) c.1252C>T (p.Arg418Ter) c.3466C>T (p.Arg1156Ter) c.3121C>T (p.Arg1041Ter) c.1855C>T (p.Arg619Ter) n.3238C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |