| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21864961G>A | CA672251 | HSPG2 | c.4508C>T (p.Ala1503Val) c.4511C>T (p.Ala1504Val) c.5054C>T (p.Ala1685Val) c.5006C>T (p.Ala1669Val) c.4985C>T (p.Ala1662Val) c.5057C>T (p.Ala1686Val) c.4562C>T (p.Ala1521Val) c.4703C>T (p.Ala1568Val) c.4652C>T (p.Ala1551Val) c.4649C>T (p.Ala1550Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21864961G>C | CA338954930 | HSPG2 | c.4508C>G (p.Ala1503Gly) c.4511C>G (p.Ala1504Gly) c.5054C>G (p.Ala1685Gly) c.5006C>G (p.Ala1669Gly) c.4985C>G (p.Ala1662Gly) c.5057C>G (p.Ala1686Gly) c.4562C>G (p.Ala1521Gly) c.4703C>G (p.Ala1568Gly) c.4652C>G (p.Ala1551Gly) c.4649C>G (p.Ala1550Gly) | dbSNP |
| 1 | g.21864961G= | CA1139838952 | HSPG2 | c.4508C= (p.Ala1503=) c.4511C= (p.Ala1504=) c.5054C= (p.Ala1685=) c.5006C= (p.Ala1669=) c.4985C= (p.Ala1662=) c.5057C= (p.Ala1686=) c.4562C= (p.Ala1521=) c.4703C= (p.Ala1568=) c.4652C= (p.Ala1551=) c.4649C= (p.Ala1550=) | dbSNP |
| 1 | g.21864961G>T | CA338954932 | HSPG2 | c.4508C>A (p.Ala1503Glu) c.4511C>A (p.Ala1504Glu) c.5054C>A (p.Ala1685Glu) c.5006C>A (p.Ala1669Glu) c.4985C>A (p.Ala1662Glu) c.5057C>A (p.Ala1686Glu) c.4562C>A (p.Ala1521Glu) c.4703C>A (p.Ala1568Glu) c.4652C>A (p.Ala1551Glu) c.4649C>A (p.Ala1550Glu) | dbSNP gnomAD v4 |