Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152110849A>C | CA1098517 | TCHH | c.2368T>G (p.Leu790Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152110849A>T | CA1098516 | TCHH | c.2368T>A (p.Leu790Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152110849A>G | CA420917588 | TCHH | c.2368T>C (p.Leu790=) | dbSNP gnomAD v4 |