| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.140017747G>C | CA369520416 | TBXAS1 | c.1441G>C (p.Gly481Arg) c.1364+1887G>C (n.1364+1887G>C) c.*1230G>C (n.*1230G>C) c.1579G>C (p.Gly527Arg) c.1444G>C (p.Gly482Arg) c.1367+1887G>C (n.1367+1887G>C) c.1582G>C (p.Gly528Arg) c.1240G>C (p.Gly414Arg) c.1384G>C (p.Gly462Arg) c.-4294965588G>C c.1258G>C (p.Gly420Arg) c.1186G>C (p.Gly396Arg) | dbSNP gnomAD v4 |
| 7 | g.140017747G>A | CA4512051 | TBXAS1 | c.1441G>A (p.Gly481Arg) c.1364+1887G>A (n.1364+1887G>A) c.*1230G>A (n.*1230G>A) c.1579G>A (p.Gly527Arg) c.1444G>A (p.Gly482Arg) c.1367+1887G>A (n.1367+1887G>A) c.1582G>A (p.Gly528Arg) c.1240G>A (p.Gly414Arg) c.1384G>A (p.Gly462Arg) c.-4294965588G>A c.1258G>A (p.Gly420Arg) c.1186G>A (p.Gly396Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.140017747G>T | CA121734 | TBXAS1 | c.1441G>T (p.Gly481Trp) c.1364+1887G>T (n.1364+1887G>T) c.*1230G>T (n.*1230G>T) c.1579G>T (p.Gly527Trp) c.1444G>T (p.Gly482Trp) c.1367+1887G>T (n.1367+1887G>T) c.1582G>T (p.Gly528Trp) c.1240G>T (p.Gly414Trp) c.1384G>T (p.Gly462Trp) c.-4294965588G>T c.1258G>T (p.Gly420Trp) c.1186G>T (p.Gly396Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |