| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.30874552C>A | CA728375 | SDC3 | c.907G>T (p.Asp303Tyr) c.733G>T (p.Asp245Tyr) c.910G>T (p.Asp304Tyr) c.874G>T (p.Asp292Tyr) c.871G>T (p.Asp291Tyr) c.832G>T (p.Asp278Tyr) c.781G>T (p.Asp261Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.30874552C>T | CA728374 | SDC3 | c.907G>A (p.Asp303Asn) c.733G>A (p.Asp245Asn) c.910G>A (p.Asp304Asn) c.874G>A (p.Asp292Asn) c.871G>A (p.Asp291Asn) c.832G>A (p.Asp278Asn) c.781G>A (p.Asp261Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.30874552C= | CA1140050753 | SDC3 | c.907G= (p.Asp303=) c.733G= (p.Asp245=) c.910G= (p.Asp304=) c.874G= (p.Asp292=) c.871G= (p.Asp291=) c.832G= (p.Asp278=) c.781G= (p.Asp261=) | dbSNP |