| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11787392G>A | CA595037 | C1orf167,MTHFR | c.3086G>A (p.Arg1029His) c.3572G>A (p.Arg1191His) c.*3288C>T (n.*3288C>T) c.1722G>A c.5382C>T (n.5382C>T) c.3644G>A (p.Arg1215His) c.1071G>A c.901G>A n.124G>A c.3707G>A (p.Arg1236His) c.3653G>A (p.Arg1218His) c.3299G>A (p.Arg1100His) c.1988G>A (p.Arg663His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11787392G= | CA1139990325 | C1orf167,MTHFR | c.3086G= (p.Arg1029=) c.3572G= (p.Arg1191=) c.*3288C= (n.*3288C=) c.1722G= c.5382C= (n.5382C=) c.3644G= (p.Arg1215=) c.1071G= c.901G= n.124G= c.3707G= (p.Arg1236=) c.3653G= (p.Arg1218=) c.3299G= (p.Arg1100=) c.1988G= (p.Arg663=) | dbSNP |
| 1 | g.11787392G>T | CA338469146 | C1orf167,MTHFR | c.3086G>T (p.Arg1029Leu) c.3572G>T (p.Arg1191Leu) c.*3288C>A (n.*3288C>A) c.1722G>T c.5382C>A (n.5382C>A) c.3644G>T (p.Arg1215Leu) c.1071G>T c.901G>T n.124G>T c.3707G>T (p.Arg1236Leu) c.3653G>T (p.Arg1218Leu) c.3299G>T (p.Arg1100Leu) c.1988G>T (p.Arg663Leu) | dbSNP gnomAD v4 |