Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.49567494C>G | CA402418491 | LIPG | c.332C>G (p.Thr111Arg) c.440C>G (p.Thr147Arg) c.296C>G (p.Thr99Arg) c.92C>G (p.Thr31Arg) c.-372C>G (n.-372C>G) | dbSNP |
18 | g.49567494C>T | CA8959057 | LIPG | c.332C>T (p.Thr111Ile) c.440C>T (p.Thr147Ile) c.296C>T (p.Thr99Ile) c.92C>T (p.Thr31Ile) c.-372C>T (n.-372C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49567494C>A | CA402418490 | LIPG | c.332C>A (p.Thr111Lys) c.440C>A (p.Thr147Lys) c.296C>A (p.Thr99Lys) c.92C>A (p.Thr31Lys) c.-372C>A (n.-372C>A) | dbSNP gnomAD v2 gnomAD v4 |