| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46709165G>A | CA2357973 | TMIE | c.251G>A (p.Arg84Gln) c.92G>A (p.Arg31Gln) c.149G>A (p.Arg50Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46709165G>T | CA261934 | TMIE | c.251G>T (p.Arg84Leu) c.92G>T (p.Arg31Leu) c.149G>T (p.Arg50Leu) | ClinVar dbSNP |
| 3 | g.46709165G= | CA1362234561 | TMIE | c.251G= (p.Arg84=) c.92G= (p.Arg31=) c.149G= (p.Arg50=) | dbSNP |