| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32081652_32081653dup | CA16621835 | TNXB | c.3762_3763dup (p.Arg1255ProfsTer14) c.4503_4504dup (p.Arg1502ProfsTer14) c.4023_4024dup (p.Arg1342ProfsTer14) | ClinVar dbSNP |
| 6 | g.32081653dup | CA3735106 | TNXB | c.3763dup (p.Arg1255ProfsTer3) c.4504dup (p.Arg1502ProfsTer3) c.4024dup (p.Arg1342ProfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.32081653del | CA449822620 | TNXB | c.3763del (p.Arg1255AlafsTer13) c.4504del (p.Arg1502AlafsTer13) c.4024del (p.Arg1342AlafsTer13) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |