| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.38738202C>T | CA10235361 | GTPBP1,SUN2 | c.2011G>A (p.Gly671Ser) c.1873G>A (p.Gly625Ser) c.1777G>A (p.Gly593Ser) c.2074G>A (p.Gly692Ser) c.430G>A (p.Gly144Ser) c.1253C>T (n.1253C>T) c.325C>T c.1978G>A (p.Gly660Ser) c.*203C>T (n.*203C>T) c.2290G>A (p.Gly764Ser) c.2116G>A (p.Gly706Ser) c.2104G>A (p.Gly702Ser) c.2056G>A (p.Gly686Ser) c.2008G>A (p.Gly670Ser) c.1921G>A (p.Gly641Ser) c.1612G>A (p.Gly538Ser) c.1519G>A (p.Gly507Ser) c.1435G>A (p.Gly479Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.38738202C= | CA2404964240 | GTPBP1,SUN2 | c.2011G= (p.Gly671=) c.1873G= (p.Gly625=) c.1777G= (p.Gly593=) c.2074G= (p.Gly692=) c.430G= (p.Gly144=) c.1253C= (n.1253C=) c.325C= c.1978G= (p.Gly660=) c.*203C= (n.*203C=) c.2290G= (p.Gly764=) c.2116G= (p.Gly706=) c.2104G= (p.Gly702=) c.2056G= (p.Gly686=) c.2008G= (p.Gly670=) c.1921G= (p.Gly641=) c.1612G= (p.Gly538=) c.1519G= (p.Gly507=) c.1435G= (p.Gly479=) | dbSNP |