| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43614018A>G | CA253647 | GTPBP2,POLH,POLR1C | c.1603A>G (p.Lys535Glu) c.*287A>G (n.*287A>G) c.449+6101T>C (n.449+6101T>C) c.1231A>G (p.Lys411Glu) c.1417A>G (p.Lys473Glu) c.1351A>G (p.Lys451Glu) c.1147A>G (p.Lys383Glu) c.945+84747A>G (n.945+84747A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.43614018A>C | CA364266911 | GTPBP2,POLH,POLR1C | c.1603A>C (p.Lys535Gln) c.*287A>C (n.*287A>C) c.449+6101T>G (n.449+6101T>G) c.1231A>C (p.Lys411Gln) c.1417A>C (p.Lys473Gln) c.1351A>C (p.Lys451Gln) c.1147A>C (p.Lys383Gln) c.945+84747A>C (n.945+84747A>C) | dbSNP gnomAD v2 gnomAD v4 |