Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.55466995T>A | CA392553206 | DNAAF4,DNAAF4-CCPG1 | c.572A>T (p.Glu191Val) c.*382A>T (n.*382A>T) c.406-16628A>T (n.406-16628A>T) n.827A>T | dbSNP |
15 | g.55466995T>G | CA392553210 | DNAAF4,DNAAF4-CCPG1 | c.572A>C (p.Glu191Ala) c.*382A>C (n.*382A>C) c.406-16628A>C (n.406-16628A>C) n.827A>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.55466995T>C | CA7575015 | DNAAF4,DNAAF4-CCPG1 | c.572A>G (p.Glu191Gly) c.*382A>G (n.*382A>G) c.406-16628A>G (n.406-16628A>G) n.827A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |