| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.133012017C>T | CA4884886 | TG | c.6379C>T (p.Arg2127Ter) c.1745C>T c.778C>T (p.Arg260Ter) n.440C>T c.379C>T c.3034C>T c.6187C>T (p.Arg2063Ter) c.6316C>T (p.Arg2106Ter) c.6313C>T (p.Arg2105Ter) c.6208C>T (p.Arg2070Ter) c.6160C>T (p.Arg2054Ter) c.6118C>T (p.Arg2040Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.133012017C= | CA1821041058 | TG | c.6379C= (p.Arg2127=) c.1745C= c.778C= (p.Arg260=) n.440C= c.379C= c.3034C= c.6187C= (p.Arg2063=) c.6316C= (p.Arg2106=) c.6313C= (p.Arg2105=) c.6208C= (p.Arg2070=) c.6160C= (p.Arg2054=) c.6118C= (p.Arg2040=) | dbSNP |
| 8 | g.133012017C>G | CA372229783 | TG | c.6379C>G (p.Arg2127Gly) c.1745C>G c.778C>G (p.Arg260Gly) n.440C>G c.379C>G c.3034C>G c.6187C>G (p.Arg2063Gly) c.6316C>G (p.Arg2106Gly) c.6313C>G (p.Arg2105Gly) c.6208C>G (p.Arg2070Gly) c.6160C>G (p.Arg2054Gly) c.6118C>G (p.Arg2040Gly) | dbSNP gnomAD v4 |