| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.225419442C>T | CA1417451 | LBR | c.461G>A (p.Ser154Asn) n.588G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.225419442C>A | CA345000122 | LBR | c.461G>T (p.Ser154Ile) n.588G>T | dbSNP |
| 1 | g.225419442C>G | CA345000124 | LBR | c.461G>C (p.Ser154Thr) n.588G>C | dbSNP gnomAD v2 |
| 1 | g.225419442C= | CA1139922193 | LBR | c.461G= (p.Ser154=) n.588G= | dbSNP |