| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3234182_3234189dup | CA2580614987 | SLC4A11 | c.425_432dup (p.Arg145AlafsTer?) c.356_363dup (p.Arg122AlafsTer?) c.368_375dup (p.Arg126AlafsTer?) c.473_480dup (p.Arg161AlafsTer?) c.554_561dup (p.Arg188AlafsTer?) c.908_915dup (p.Arg306AlafsTer?) c.392_399dup (p.Arg134AlafsTer?) n.593_600dup n.1018_1025dup n.983_990dup | ClinVar dbSNP gnomAD v4 |
| 20 | g.3234182_3234189del | CA358681 | SLC4A11 | c.425_432del (p.Arg142GlnfsTer4) c.356_363del (p.Arg119GlnfsTer4) c.368_375del (p.Arg123GlnfsTer4) c.473_480del (p.Arg158GlnfsTer4) c.554_561del (p.Arg185GlnfsTer4) c.908_915del (p.Arg303GlnfsTer4) c.392_399del (p.Arg131GlnfsTer4) n.593_600del n.1018_1025del n.983_990del | ClinVar dbSNP gnomAD v3 gnomAD v4 |