| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11788011G>C | CA595062 | C1orf167,MTHFR | c.3326G>C (p.Cys1109Ser) c.3812G>C (p.Cys1271Ser) c.*2669C>G (n.*2669C>G) c.1962G>C c.4763C>G (n.4763C>G) c.3884G>C (p.Cys1295Ser) c.1311G>C c.1141G>C n.200G>C c.3947G>C (p.Cys1316Ser) c.3893G>C (p.Cys1298Ser) c.3539G>C (p.Cys1180Ser) c.2228G>C (p.Cys743Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11788011G>A | CA338469970 | C1orf167,MTHFR | c.3326G>A (p.Cys1109Tyr) c.3812G>A (p.Cys1271Tyr) c.*2669C>T (n.*2669C>T) c.1962G>A c.4763C>T (n.4763C>T) c.3884G>A (p.Cys1295Tyr) c.1311G>A c.1141G>A n.200G>A c.3947G>A (p.Cys1316Tyr) c.3893G>A (p.Cys1298Tyr) c.3539G>A (p.Cys1180Tyr) c.2228G>A (p.Cys743Tyr) | dbSNP gnomAD v4 |
| 1 | g.11788011G= | CA1139878581 | C1orf167,MTHFR | c.3326G= (p.Cys1109=) c.3812G= (p.Cys1271=) c.*2669C= (n.*2669C=) c.1962G= c.4763C= (n.4763C=) c.3884G= (p.Cys1295=) c.1311G= c.1141G= n.200G= c.3947G= (p.Cys1316=) c.3893G= (p.Cys1298=) c.3539G= (p.Cys1180=) c.2228G= (p.Cys743=) | dbSNP |