| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.113879664A>G | CA457460859 | PPP1R3A | c.1428T>C (p.Asn476=) c.465T>C (p.Asn155=) c.825T>C (p.Asn275=) | dbSNP |
| 7 | g.113879664A>C | CA369102251 | PPP1R3A | c.1428T>G (p.Asn476Lys) c.465T>G (p.Asn155Lys) c.825T>G (p.Asn275Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.113879664A>T | CA4445264 | PPP1R3A | c.1428T>A (p.Asn476Lys) c.465T>A (p.Asn155Lys) c.825T>A (p.Asn275Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.113879664A= | CA1735669382 | PPP1R3A | c.1428T= (p.Asn476=) c.465T= (p.Asn155=) c.825T= (p.Asn275=) | dbSNP dbSNP |