| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.160136611C>T | CA4083926 | SLC22A1 | c.1022C>T (p.Pro341Leu) c.*495C>T (n.*495C>T) c.446C>T (p.Pro149Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160136611C>G | CA4083927 | SLC22A1 | c.1022C>G (p.Pro341Arg) c.*495C>G (n.*495C>G) c.446C>G (p.Pro149Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160136611C>A | CA366327624 | SLC22A1 | c.1022C>A (p.Pro341Gln) c.*495C>A (n.*495C>A) c.446C>A (p.Pro149Gln) | dbSNP gnomAD v4 |
| 6 | g.160136611C= | CA1676922151 | SLC22A1 | c.1022C= (p.Pro341=) c.*495C= (n.*495C=) c.446C= (p.Pro149=) | dbSNP |