| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109561068G>A | CA312714 | MMAB | c.556C>T (p.Arg186Trp) c.*121C>T (n.*121C>T) c.400C>T (p.Arg134Trp) c.781C>T (n.781C>T) c.*437C>T (n.*437C>T) n.716C>T c.401C>T (p.Pro134Leu) c.283C>T (p.Arg95Trp) c.280C>T (p.Arg94Trp) n.667C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109561068G>T | CA481711176 | MMAB | c.556C>A (p.Arg186=) c.*121C>A (n.*121C>A) c.400C>A (p.Arg134=) c.781C>A (n.781C>A) c.*437C>A (n.*437C>A) n.716C>A c.401C>A (p.Pro134Gln) c.283C>A (p.Arg95=) c.280C>A (p.Arg94=) n.667C>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.109561068G= | CA2062448209 | MMAB | c.556C= (p.Arg186=) c.*121C= (n.*121C=) c.400C= (p.Arg134=) c.781C= (n.781C=) c.*437C= (n.*437C=) n.716C= c.401C= (p.Pro134=) c.283C= (p.Arg95=) c.280C= (p.Arg94=) n.667C= | dbSNP |
| 12 | g.109561068G>C | CA386636913 | MMAB | c.556C>G (p.Arg186Gly) c.*121C>G (n.*121C>G) c.400C>G (p.Arg134Gly) c.781C>G (n.781C>G) c.*437C>G (n.*437C>G) n.716C>G c.401C>G (p.Pro134Arg) c.283C>G (p.Arg95Gly) c.280C>G (p.Arg94Gly) n.667C>G | ClinVar dbSNP |