| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214978438del | CA252480 | ABCA12 | c.5012del (p.Asn1671IlefsTer4) c.4058del (p.Asn1353IlefsTer4) n.5312del c.5021del (p.Asn1674IlefsTer4) n.5510del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.214978438dup | CA539536376 | ABCA12 | c.5012dup (p.Asn1671LysfsTer2) c.4058dup (p.Asn1353LysfsTer2) n.5312dup c.5021dup (p.Asn1674LysfsTer2) n.5510dup | ClinVar dbSNP gnomAD v2 COSMIC COSMIC |