| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.1758970G>A | CA267592 | CTSD | c.470C>T (p.Ser157Leu) c.365C>T (p.Ser122Leu) c.449C>T (p.Ser150Leu) c.464C>T (p.Ser155Leu) n.2898C>T n.865C>T c.*331C>T (n.*331C>T) c.-131C>T (n.-131C>T) c.425C>T (p.Ser142Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.1758970G>C | CA379097166 | CTSD | c.470C>G (p.Ser157Trp) c.365C>G (p.Ser122Trp) c.449C>G (p.Ser150Trp) c.464C>G (p.Ser155Trp) n.2898C>G n.865C>G c.*331C>G (n.*331C>G) c.-131C>G (n.-131C>G) c.425C>G (p.Ser142Trp) | dbSNP gnomAD v4 |
| 11 | g.1758970G>T | CA379097164 | CTSD | c.470C>A (p.Ser157Ter) c.365C>A (p.Ser122Ter) c.449C>A (p.Ser150Ter) c.464C>A (p.Ser155Ter) n.2898C>A n.865C>A c.*331C>A (n.*331C>A) c.-131C>A (n.-131C>A) c.425C>A (p.Ser142Ter) | dbSNP gnomAD v4 |
| 11 | g.1758970G= | CA1947828420 | CTSD | c.470C= (p.Ser157=) c.365C= (p.Ser122=) c.449C= (p.Ser150=) c.464C= (p.Ser155=) n.2898C= n.865C= c.*331C= (n.*331C=) c.-131C= (n.-131C=) c.425C= (p.Ser142=) | dbSNP |