| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.3976716G>A | CA9088523 | EEF2 | c.2415C>T (p.Gly805=) c.108-416C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.3976716G>C | CA504985225 | EEF2 | c.2415C>G (p.Gly805=) c.108-416C>G | |
| 19 | g.3976716G= | CA2319151919 | EEF2 | c.2415C= (p.Gly805=) c.108-416C= | |
| 19 | g.3976716G>T | CA504985227 | EEF2 | c.2415C>A (p.Gly805=) c.108-416C>A | gnomAD v4 |
| 19 | g.3976717C>A | CA403388791 | EEF2 | c.2414G>T (p.Gly805Val) c.108-417G>T | |
| 19 | g.3976717C>G | CA403388788 | EEF2 | c.2414G>C (p.Gly805Ala) c.108-417G>C | |
| 19 | g.3976717C>T | CA403388790 | EEF2 | c.2414G>A (p.Gly805Asp) c.108-417G>A | |
| 19 | g.3976718C>A | CA403388794 | EEF2 | c.2413G>T (p.Gly805Cys) c.108-418G>T | gnomAD v4 |
| 19 | g.3976718C>G | CA403388795 | EEF2 | c.2413G>C (p.Gly805Arg) c.108-418G>C | |
| 19 | g.3976718C>T | CA403388797 | EEF2 | c.2413G>A (p.Gly805Ser) c.108-418G>A | gnomAD v4 |
| 19 | g.3976719C>A | CA9088525 | EEF2 | c.2412G>T (p.Thr804=) c.108-419G>T | dbSNP ExAC gnomAD v4 |
| 19 | g.3976719C= | CA2319151920 | EEF2 | c.2412G= (p.Thr804=) c.108-419G= | |
| 19 | g.3976719C>G | CA504985238 | EEF2 | c.2412G>C (p.Thr804=) c.108-419G>C | dbSNP |
| 19 | g.3976719C>T | CA9088524 | EEF2 | c.2412G>A (p.Thr804=) c.108-419G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.3976720G>A | CA9088526 | EEF2 | c.2411C>T (p.Thr804Met) c.108-420C>T | dbSNP ExAC gnomAD v4 |
| 19 | g.3976720G>C | CA403388803 | EEF2 | c.2411C>G (p.Thr804Arg) c.108-420C>G | |
| 19 | g.3976720G= | CA2319151921 | EEF2 | c.2411C= (p.Thr804=) c.108-420C= | |
| 19 | g.3976720G>T | CA403388804 | EEF2 | c.2411C>A (p.Thr804Lys) c.108-420C>A | gnomAD v4 |
| 19 | g.3976721T>A | CA403388809 | EEF2 | c.2410A>T (p.Thr804Ser) c.108-421A>T | |
| 19 | g.3976721T>C | CA403388808 | EEF2 | c.2410A>G (p.Thr804Ala) c.108-421A>G | |
| 19 | g.3976721T>G | CA403388806 | EEF2 | c.2410A>C (p.Thr804Pro) c.108-421A>C | |
| 19 | g.3976722G>A | CA504985253 | EEF2 | c.2409C>T (p.Asn803=) c.108-422C>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.3976722G>C | CA403388811 | EEF2 | c.2409C>G (p.Asn803Lys) c.108-422C>G | |
| 19 | g.3976722G= | CA2319151922 | EEF2 | c.2409C= (p.Asn803=) c.108-422C= | |
| 19 | g.3976722G>T | CA403388813 | EEF2 | c.2409C>A (p.Asn803Lys) c.108-422C>A | gnomAD v4 |
| 19 | g.3976723T>A | CA403388815 | EEF2 | c.2408A>T (p.Asn803Ile) c.108-423A>T | |
| 19 | g.3976723T>C | CA403388816 | EEF2 | c.2408A>G (p.Asn803Ser) c.108-423A>G | |
| 19 | g.3976723T>G | CA403388818 | EEF2 | c.2408A>C (p.Asn803Thr) c.108-423A>C | |
| 19 | g.3976724T>A | CA403388821 | EEF2 | c.2407A>T (p.Asn803Tyr) c.108-424A>T | |
| 19 | g.3976724T>C | CA403388823 | EEF2 | c.2407A>G (p.Asn803Asp) c.108-424A>G | |
| 19 | g.3976724T>G | CA403388825 | EEF2 | c.2407A>C (p.Asn803His) c.108-424A>C | |
| 19 | g.3976725G>A | CA504985264 | EEF2 | c.2406C>T (p.Ser802=) c.108-425C>T | gnomAD v4 |
| 19 | g.3976725G>C | CA504985267 | EEF2 | c.2406C>G (p.Ser802=) c.108-425C>G | |
| 19 | g.3976725G>T | CA504985266 | EEF2 | c.2406C>A (p.Ser802=) c.108-425C>A | gnomAD v4 |
| 19 | g.3976726G>A | CA403388826 | EEF2 | c.2405C>T (p.Ser802Phe) c.108-426C>T | |
| 19 | g.3976726G>C | CA403388827 | EEF2 | c.2405C>G (p.Ser802Cys) c.108-426C>G | |
| 19 | g.3976726G>T | CA403388828 | EEF2 | c.2405C>A (p.Ser802Tyr) c.108-426C>A | gnomAD v4 |
| 19 | g.3976727A= | CA2319151923 | EEF2 | c.2404T= (p.Ser802=) c.108-427T= | |
| 19 | g.3976727A>C | CA304441452 | EEF2 | c.2404T>G (p.Ser802Ala) c.108-427T>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.3976727A>G | CA403388831 | EEF2 | c.2404T>C (p.Ser802Pro) c.108-427T>C | gnomAD v4 |
| 19 | g.3976727A>T | CA403388829 | EEF2 | c.2404T>A (p.Ser802Thr) c.108-427T>A | gnomAD v4 |
| 19 | g.3976728C>A | CA403388833 | EEF2 | c.2403G>T (p.Arg801Ser) c.108-428G>T | gnomAD v4 |
| 19 | g.3976728C= | CA2319151924 | EEF2 | c.2403G= (p.Arg801=) c.108-428G= | |
| 19 | g.3976728C>G | CA403388835 | EEF2 | c.2403G>C (p.Arg801Ser) c.108-428G>C | gnomAD v4 |
| 19 | g.3976728C>T | CA504985282 | EEF2 | c.2403G>A (p.Arg801=) c.108-428G>A | dbSNP |
| 19 | g.3976729C>A | CA403388838 | EEF2 | c.2402G>T (p.Arg801Met) c.108-429G>T | gnomAD v4 |
| 19 | g.3976729C>G | CA403388839 | EEF2 | c.2402G>C (p.Arg801Thr) c.108-429G>C | |
| 19 | g.3976729C>T | CA403388840 | EEF2 | c.2402G>A (p.Arg801Lys) c.108-429G>A | |
| 19 | g.3976730T>A | CA403388841 | EEF2 | c.2401A>T (p.Arg801Trp) c.108-430A>T | |
| 19 | g.3976730T>C | CA403388842 | EEF2 | c.2401A>G (p.Arg801Gly) c.108-430A>G | gnomAD v4 |