| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149010272G>A | CA339991 | SH3TC2 | c.3221C>T c.3325C>T (p.Arg1109Ter) c.*2609C>T (n.*2609C>T) c.*2713C>T (n.*2713C>T) c.2855C>T (n.2855C>T) c.2375C>T c.3304C>T (p.Arg1102Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149010272G>C | CA361664775 | SH3TC2 | c.3221C>G c.3325C>G (p.Arg1109Gly) c.*2609C>G (n.*2609C>G) c.*2713C>G (n.*2713C>G) c.2855C>G (n.2855C>G) c.2375C>G c.3304C>G (p.Arg1102Gly) | dbSNP |
| 5 | g.149010272G= | CA1590304818 | SH3TC2 | c.3221C= c.3325C= (p.Arg1109=) c.*2609C= (n.*2609C=) c.*2713C= (n.*2713C=) c.2855C= (n.2855C=) c.2375C= c.3304C= (p.Arg1102=) | dbSNP |