| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.140015731G>A | CA121739 | TBXAS1 | c.1235G>A (p.Arg412Gln) c.*1024G>A (n.*1024G>A) c.1373G>A (p.Arg458Gln) c.1238G>A (p.Arg413Gln) c.1376G>A (p.Arg459Gln) c.1034G>A (p.Arg345Gln) n.1206G>A c.1178G>A (p.Arg393Gln) c.-4294965794G>A c.1052G>A (p.Arg351Gln) c.980G>A (p.Arg327Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.140015731G>T | CA369517313 | TBXAS1 | c.1235G>T (p.Arg412Leu) c.*1024G>T (n.*1024G>T) c.1373G>T (p.Arg458Leu) c.1238G>T (p.Arg413Leu) c.1376G>T (p.Arg459Leu) c.1034G>T (p.Arg345Leu) n.1206G>T c.1178G>T (p.Arg393Leu) c.-4294965794G>T c.1052G>T (p.Arg351Leu) c.980G>T (p.Arg327Leu) | dbSNP gnomAD v4 |
| 7 | g.140015731G= | CA1747365631 | TBXAS1 | c.1235G= (p.Arg412=) c.*1024G= (n.*1024G=) c.1373G= (p.Arg458=) c.1238G= (p.Arg413=) c.1376G= (p.Arg459=) c.1034G= (p.Arg345=) n.1206G= c.1178G= (p.Arg393=) c.-4294965794G= c.1052G= (p.Arg351=) c.980G= (p.Arg327=) | dbSNP |