| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.238397627A>T | CA2198591 | TRAF3IP1 | c.1858A>T (p.Met620Leu) c.1660A>T (p.Met554Leu) n.869A>T n.206A>T c.1657A>T (p.Met553Leu) c.1960A>T (p.Met654Leu) c.1921A>T (p.Met641Leu) c.1888A>T (p.Met630Leu) c.1828A>T (p.Met610Leu) c.1762A>T (p.Met588Leu) c.826A>T (p.Met276Leu) c.1957A>T (p.Met653Leu) n.1686A>T n.1683A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.238397627A>C | CA2198590 | TRAF3IP1 | c.1858A>C (p.Met620Leu) c.1660A>C (p.Met554Leu) n.869A>C n.206A>C c.1657A>C (p.Met553Leu) c.1960A>C (p.Met654Leu) c.1921A>C (p.Met641Leu) c.1888A>C (p.Met630Leu) c.1828A>C (p.Met610Leu) c.1762A>C (p.Met588Leu) c.826A>C (p.Met276Leu) c.1957A>C (p.Met653Leu) n.1686A>C n.1683A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.238397627A>G | CA351246593 | TRAF3IP1 | c.1858A>G (p.Met620Val) c.1660A>G (p.Met554Val) n.869A>G n.206A>G c.1657A>G (p.Met553Val) c.1960A>G (p.Met654Val) c.1921A>G (p.Met641Val) c.1888A>G (p.Met630Val) c.1828A>G (p.Met610Val) c.1762A>G (p.Met588Val) c.826A>G (p.Met276Val) c.1957A>G (p.Met653Val) n.1686A>G n.1683A>G | dbSNP gnomAD v4 |
| 2 | g.238397627A= | CA1338105481 | TRAF3IP1 | c.1858A= (p.Met620=) c.1660A= (p.Met554=) n.869A= n.206A= c.1657A= (p.Met553=) c.1960A= (p.Met654=) c.1921A= (p.Met641=) c.1888A= (p.Met630=) c.1828A= (p.Met610=) c.1762A= (p.Met588=) c.826A= (p.Met276=) c.1957A= (p.Met653=) n.1686A= n.1683A= | dbSNP |