| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.44265183A>G | CA3833197 | NFKBIE,POLR1C | c.164T>C (p.Val55Ala) c.581T>C (p.Val194Ala) c.946-176707A>G (n.946-176707A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44265183A>C | CA364308954 | NFKBIE,POLR1C | c.164T>G (p.Val55Gly) c.581T>G (p.Val194Gly) c.946-176707A>C (n.946-176707A>C) | dbSNP |
| 6 | g.44265183A>T | CA364308957 | NFKBIE,POLR1C | c.164T>A (p.Val55Asp) c.581T>A (p.Val194Asp) c.946-176707A>T (n.946-176707A>T) | dbSNP |
| 6 | g.44265183A= | CA1624894108 | NFKBIE,POLR1C | c.164T= (p.Val55=) c.581T= (p.Val194=) c.946-176707A= (n.946-176707A=) | dbSNP |