Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.235766122G>C | CA39619459 | LYST | c.753C>G (p.Tyr251Ter) c.*1502C>G (n.*1502C>G) c.583C>G c.510C>G (p.Tyr170Ter) c.6078C>G (p.Tyr2026Ter) n.6512+117C>G c.5940C>G (p.Tyr1980Ter) c.3741C>G (p.Tyr1247Ter) c.5987C>G (p.Thr1996Arg) c.5849C>G (p.Thr1950Arg) n.6260C>G n.6169C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.235766122G>A | CA1466467 | LYST | c.753C>T (p.Tyr251=) c.*1502C>T (n.*1502C>T) c.583C>T c.510C>T (p.Tyr170=) c.6078C>T (p.Tyr2026=) n.6512+117C>T c.5940C>T (p.Tyr1980=) c.3741C>T (p.Tyr1247=) c.5987C>T (p.Thr1996Met) c.5849C>T (p.Thr1950Met) n.6260C>T n.6169C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.235766122G>T | CA344865 | LYST | c.753C>A (p.Tyr251Ter) c.*1502C>A (n.*1502C>A) c.583C>A c.510C>A (p.Tyr170Ter) c.6078C>A (p.Tyr2026Ter) n.6512+117C>A c.5940C>A (p.Tyr1980Ter) c.3741C>A (p.Tyr1247Ter) c.5987C>A (p.Thr1996Lys) c.5849C>A (p.Thr1950Lys) n.6260C>A n.6169C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |