| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.56881616G>C | CA359785749 | MAP3K1 | c.2416G>C (p.Asp806His) c.2038G>C (p.Asp680His) c.2161G>C (p.Asp721His) c.2137G>C (p.Asp713His) c.2005G>C (p.Asp669His) c.1927G>C (p.Asp643His) n.2447G>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.56881616G>A | CA3272999 | MAP3K1 | c.2416G>A (p.Asp806Asn) c.2038G>A (p.Asp680Asn) c.2161G>A (p.Asp721Asn) c.2137G>A (p.Asp713Asn) c.2005G>A (p.Asp669Asn) c.1927G>A (p.Asp643Asn) n.2447G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.56881616G= | CA1548139240 | MAP3K1 | c.2416G= (p.Asp806=) c.2038G= (p.Asp680=) c.2161G= (p.Asp721=) c.2137G= (p.Asp713=) c.2005G= (p.Asp669=) c.1927G= (p.Asp643=) n.2447G= | dbSNP |