| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.156815190T>A | CA342932723 | SH2D2A | c.155A>T (p.Asn52Ile) c.101A>T (p.Asn34Ile) n.222A>T n.207A>T c.71A>T (p.Asn24Ile) c.173A>T (p.Asn58Ile) c.161A>T (p.Asn54Ile) c.89A>T (p.Asn30Ile) c.143A>T (p.Asn48Ile) | dbSNP gnomAD v4 |
| 1 | g.156815190T>C | CA1167376 | SH2D2A | c.155A>G (p.Asn52Ser) c.101A>G (p.Asn34Ser) n.222A>G n.207A>G c.71A>G (p.Asn24Ser) c.173A>G (p.Asn58Ser) c.161A>G (p.Asn54Ser) c.89A>G (p.Asn30Ser) c.143A>G (p.Asn48Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |