| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.56956889G>A | CA210869 | C8B | c.*112C>T (n.*112C>T) c.*376C>T (n.*376C>T) c.271C>T (p.Gln91Ter) n.509C>T c.85C>T (p.Gln29Ter) c.115C>T (p.Gln39Ter) n.371C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.56956889G= | CA1142099922 | C8B | c.*112C= (n.*112C=) c.*376C= (n.*376C=) c.271C= (p.Gln91=) n.509C= c.85C= (p.Gln29=) c.115C= (p.Gln39=) n.371C= | dbSNP |