| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.104143452G>C | CA5680080 | CFAP43 | c.4132C>G (p.Arg1378Gly) c.2127C>G c.678C>G c.4135C>G (p.Arg1379Gly) c.4048C>G (p.Arg1350Gly) c.4249C>G (p.Arg1417Gly) c.4162C>G (p.Arg1388Gly) c.3778-1059C>G (n.3778-1059C>G) c.3478C>G (p.Arg1160Gly) c.2032C>G (p.Arg678Gly) c.4246C>G (p.Arg1416Gly) c.3901C>G (p.Arg1301Gly) c.2635C>G (p.Arg879Gly) n.6257C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104143452G>A | CA378085236 | CFAP43 | c.4132C>T (p.Arg1378Ter) c.2127C>T c.678C>T c.4135C>T (p.Arg1379Ter) c.4048C>T (p.Arg1350Ter) c.4249C>T (p.Arg1417Ter) c.4162C>T (p.Arg1388Ter) c.3778-1059C>T (n.3778-1059C>T) c.3478C>T (p.Arg1160Ter) c.2032C>T (p.Arg678Ter) c.4246C>T (p.Arg1416Ter) c.3901C>T (p.Arg1301Ter) c.2635C>T (p.Arg879Ter) n.6257C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.104143452G>T | CA5680081 | CFAP43 | c.4132C>A (p.Arg1378=) c.2127C>A c.678C>A c.4135C>A (p.Arg1379=) c.4048C>A (p.Arg1350=) c.4249C>A (p.Arg1417=) c.4162C>A (p.Arg1388=) c.3778-1059C>A (n.3778-1059C>A) c.3478C>A (p.Arg1160=) c.2032C>A (p.Arg678=) c.4246C>A (p.Arg1416=) c.3901C>A (p.Arg1301=) c.2635C>A (p.Arg879=) n.6257C>A | dbSNP ExAC gnomAD v2 |