| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.6452092G>A | CA116851 | ESPN | c.351G>A c.623G>A (p.Arg208Gln) c.389G>A (p.Arg130Gln) c.376G>A c.2321G>A (p.Arg774Gln) c.446G>A (p.Arg149Gln) c.386G>A (p.Arg129Gln) n.376G>A c.470G>A (p.Arg157Gln) c.2258G>A (p.Arg753Gln) c.2231G>A (p.Arg744Gln) c.1862G>A (p.Arg621Gln) c.1199G>A (p.Arg400Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.6452092G>C | CA338100284 | ESPN | c.351G>C c.623G>C (p.Arg208Pro) c.389G>C (p.Arg130Pro) c.376G>C c.2321G>C (p.Arg774Pro) c.446G>C (p.Arg149Pro) c.386G>C (p.Arg129Pro) n.376G>C c.470G>C (p.Arg157Pro) c.2258G>C (p.Arg753Pro) c.2231G>C (p.Arg744Pro) c.1862G>C (p.Arg621Pro) c.1199G>C (p.Arg400Pro) | dbSNP gnomAD v4 |
| 1 | g.6452092G= | CA1141580552 | ESPN | c.351G= c.623G= (p.Arg208=) c.389G= (p.Arg130=) c.376G= c.2321G= (p.Arg774=) c.446G= (p.Arg149=) c.386G= (p.Arg129=) n.376G= c.470G= (p.Arg157=) c.2258G= (p.Arg753=) c.2231G= (p.Arg744=) c.1862G= (p.Arg621=) c.1199G= (p.Arg400=) | dbSNP |