| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.70439117G>A | CA340839861 | CTH | c.1208G>A (p.Ser403Asn) c.1076G>A (p.Ser359Asn) c.1112G>A (p.Ser371Asn) n.483G>A c.881G>A (p.Ser294Asn) c.638G>A (p.Ser213Asn) | dbSNP gnomAD v4 |
| 1 | g.70439117G>T | CA115891 | CTH | c.1208G>T (p.Ser403Ile) c.1076G>T (p.Ser359Ile) c.1112G>T (p.Ser371Ile) n.483G>T c.881G>T (p.Ser294Ile) c.638G>T (p.Ser213Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.70439117G>C | CA340839862 | CTH | c.1208G>C (p.Ser403Thr) c.1076G>C (p.Ser359Thr) c.1112G>C (p.Ser371Thr) n.483G>C c.881G>C (p.Ser294Thr) c.638G>C (p.Ser213Thr) | dbSNP gnomAD v4 |
| 1 | g.70439117G= | CA1139846959 | CTH | c.1208G= (p.Ser403=) c.1076G= (p.Ser359=) c.1112G= (p.Ser371=) n.483G= c.881G= (p.Ser294=) c.638G= (p.Ser213=) | dbSNP |