| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48134940T>A | CA16042928 | MYEF2,SLC24A5 | c.*7968A>T (n.*7968A>T) c.546T>A (p.Ser182Arg) c.366T>A (p.Ser122Arg) n.306T>A c.567T>A (p.Ser189Arg) c.*8123A>T (n.*8123A>T) c.300T>A (p.Ser100Arg) c.207T>A (p.Ser69Arg) | ClinVar dbSNP |
| 15 | g.48134940T>C | CA490090516 | MYEF2,SLC24A5 | c.*7968A>G (n.*7968A>G) c.546T>C (p.Ser182=) c.366T>C (p.Ser122=) n.306T>C c.567T>C (p.Ser189=) c.*8123A>G (n.*8123A>G) c.300T>C (p.Ser100=) c.207T>C (p.Ser69=) | |
| 15 | g.48134940T>G | CA392451024 | MYEF2,SLC24A5 | c.*7968A>C (n.*7968A>C) c.546T>G (p.Ser182Arg) c.366T>G (p.Ser122Arg) n.306T>G c.567T>G (p.Ser189Arg) c.*8123A>C (n.*8123A>C) c.300T>G (p.Ser100Arg) c.207T>G (p.Ser69Arg) | |
| 15 | g.48134940T= | CA2175374248 | MYEF2,SLC24A5 | c.*7968A= (n.*7968A=) c.546T= (p.Ser182=) c.366T= (p.Ser122=) n.306T= c.567T= (p.Ser189=) c.*8123A= (n.*8123A=) c.300T= (p.Ser100=) c.207T= (p.Ser69=) | |
| 15 | g.48134941G>A | CA392451025 | MYEF2,SLC24A5 | c.*7967C>T (n.*7967C>T) c.547G>A (p.Ala183Thr) c.367G>A (p.Ala123Thr) n.307G>A c.568G>A (p.Ala190Thr) c.*8122C>T (n.*8122C>T) c.301G>A (p.Ala101Thr) c.208G>A (p.Ala70Thr) | |
| 15 | g.48134941G>C | CA392451026 | MYEF2,SLC24A5 | c.*7967C>G (n.*7967C>G) c.547G>C (p.Ala183Pro) c.367G>C (p.Ala123Pro) n.307G>C c.568G>C (p.Ala190Pro) c.*8122C>G (n.*8122C>G) c.301G>C (p.Ala101Pro) c.208G>C (p.Ala70Pro) | |
| 15 | g.48134941G>T | CA392451027 | MYEF2,SLC24A5 | c.*7967C>A (n.*7967C>A) c.547G>T (p.Ala183Ser) c.367G>T (p.Ala123Ser) n.307G>T c.568G>T (p.Ala190Ser) c.*8122C>A (n.*8122C>A) c.301G>T (p.Ala101Ser) c.208G>T (p.Ala70Ser) | |
| 15 | g.48134942C>A | CA392451028 | MYEF2,SLC24A5 | c.*7966G>T (n.*7966G>T) c.548C>A (p.Ala183Glu) c.368C>A (p.Ala123Glu) n.308C>A c.569C>A (p.Ala190Glu) c.*8121G>T (n.*8121G>T) c.302C>A (p.Ala101Glu) c.209C>A (p.Ala70Glu) | |
| 15 | g.48134942C>G | CA392451029 | MYEF2,SLC24A5 | c.*7966G>C (n.*7966G>C) c.548C>G (p.Ala183Gly) c.368C>G (p.Ala123Gly) n.308C>G c.569C>G (p.Ala190Gly) c.*8121G>C (n.*8121G>C) c.302C>G (p.Ala101Gly) c.209C>G (p.Ala70Gly) | |
| 15 | g.48134942C>T | CA392451030 | MYEF2,SLC24A5 | c.*7966G>A (n.*7966G>A) c.548C>T (p.Ala183Val) c.368C>T (p.Ala123Val) n.308C>T c.569C>T (p.Ala190Val) c.*8121G>A (n.*8121G>A) c.302C>T (p.Ala101Val) c.209C>T (p.Ala70Val) | dbSNP gnomAD v4 |
| 15 | g.48134943A>C | CA490090517 | MYEF2,SLC24A5 | c.*7965T>G (n.*7965T>G) c.549A>C (p.Ala183=) c.369A>C (p.Ala123=) n.309A>C c.570A>C (p.Ala190=) c.*8120T>G (n.*8120T>G) c.303A>C (p.Ala101=) c.210A>C (p.Ala70=) | |
| 15 | g.48134943A>G | CA490090518 | MYEF2,SLC24A5 | c.*7965T>C (n.*7965T>C) c.549A>G (p.Ala183=) c.369A>G (p.Ala123=) n.309A>G c.570A>G (p.Ala190=) c.*8120T>C (n.*8120T>C) c.303A>G (p.Ala101=) c.210A>G (p.Ala70=) | gnomAD v4 |
| 15 | g.48134943A>T | CA490090519 | MYEF2,SLC24A5 | c.*7965T>A (n.*7965T>A) c.549A>T (p.Ala183=) c.369A>T (p.Ala123=) n.309A>T c.570A>T (p.Ala190=) c.*8120T>A (n.*8120T>A) c.303A>T (p.Ala101=) c.210A>T (p.Ala70=) | |
| 15 | g.48134944G>A | CA392451033 | MYEF2,SLC24A5 | c.*7964C>T (n.*7964C>T) c.550G>A (p.Ala184Thr) c.370G>A (p.Ala124Thr) n.310G>A c.571G>A (p.Ala191Thr) c.*8119C>T (n.*8119C>T) c.304G>A (p.Ala102Thr) c.211G>A (p.Ala71Thr) | |
| 15 | g.48134944G>C | CA392451032 | MYEF2,SLC24A5 | c.*7964C>G (n.*7964C>G) c.550G>C (p.Ala184Pro) c.370G>C (p.Ala124Pro) n.310G>C c.571G>C (p.Ala191Pro) c.*8119C>G (n.*8119C>G) c.304G>C (p.Ala102Pro) c.211G>C (p.Ala71Pro) | |
| 15 | g.48134944G>T | CA392451031 | MYEF2,SLC24A5 | c.*7964C>A (n.*7964C>A) c.550G>T (p.Ala184Ser) c.370G>T (p.Ala124Ser) n.310G>T c.571G>T (p.Ala191Ser) c.*8119C>A (n.*8119C>A) c.304G>T (p.Ala102Ser) c.211G>T (p.Ala71Ser) | |
| 15 | g.48134945C>A | CA392451034 | MYEF2,SLC24A5 | c.*7963G>T (n.*7963G>T) c.551C>A (p.Ala184Glu) c.371C>A (p.Ala124Glu) n.311C>A c.572C>A (p.Ala191Glu) c.*8118G>T (n.*8118G>T) c.305C>A (p.Ala102Glu) c.212C>A (p.Ala71Glu) | |
| 15 | g.48134945C>G | CA392451035 | MYEF2,SLC24A5 | c.*7963G>C (n.*7963G>C) c.551C>G (p.Ala184Gly) c.371C>G (p.Ala124Gly) n.311C>G c.572C>G (p.Ala191Gly) c.*8118G>C (n.*8118G>C) c.305C>G (p.Ala102Gly) c.212C>G (p.Ala71Gly) | |
| 15 | g.48134945C>T | CA392451036 | MYEF2,SLC24A5 | c.*7963G>A (n.*7963G>A) c.551C>T (p.Ala184Val) c.371C>T (p.Ala124Val) n.311C>T c.572C>T (p.Ala191Val) c.*8118G>A (n.*8118G>A) c.305C>T (p.Ala102Val) c.212C>T (p.Ala71Val) | |
| 15 | g.48134946A>C | CA490090520 | MYEF2,SLC24A5 | c.*7962T>G (n.*7962T>G) c.552A>C (p.Ala184=) c.372A>C (p.Ala124=) n.312A>C c.573A>C (p.Ala191=) c.*8117T>G (n.*8117T>G) c.306A>C (p.Ala102=) c.213A>C (p.Ala71=) | |
| 15 | g.48134946A>G | CA490090522 | MYEF2,SLC24A5 | c.*7962T>C (n.*7962T>C) c.552A>G (p.Ala184=) c.372A>G (p.Ala124=) n.312A>G c.573A>G (p.Ala191=) c.*8117T>C (n.*8117T>C) c.306A>G (p.Ala102=) c.213A>G (p.Ala71=) | |
| 15 | g.48134946A>T | CA490090521 | MYEF2,SLC24A5 | c.*7962T>A (n.*7962T>A) c.552A>T (p.Ala184=) c.372A>T (p.Ala124=) n.312A>T c.573A>T (p.Ala191=) c.*8117T>A (n.*8117T>A) c.306A>T (p.Ala102=) c.213A>T (p.Ala71=) | |
| 15 | g.48134947G>A | CA392451037 | MYEF2,SLC24A5 | c.*7961C>T (n.*7961C>T) c.553G>A (p.Ala185Thr) c.373G>A (p.Ala125Thr) n.313G>A c.574G>A (p.Ala192Thr) c.*8116C>T (n.*8116C>T) c.307G>A (p.Ala103Thr) c.214G>A (p.Ala72Thr) | gnomAD v4 |
| 15 | g.48134947G>C | CA392451038 | MYEF2,SLC24A5 | c.*7961C>G (n.*7961C>G) c.553G>C (p.Ala185Pro) c.373G>C (p.Ala125Pro) n.313G>C c.574G>C (p.Ala192Pro) c.*8116C>G (n.*8116C>G) c.307G>C (p.Ala103Pro) c.214G>C (p.Ala72Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48134947G= | CA2175374249 | MYEF2,SLC24A5 | c.*7961C= (n.*7961C=) c.553G= (p.Ala185=) c.373G= (p.Ala125=) n.313G= c.574G= (p.Ala192=) c.*8116C= (n.*8116C=) c.307G= (p.Ala103=) c.214G= (p.Ala72=) | |
| 15 | g.48134947G>T | CA392451039 | MYEF2,SLC24A5 | c.*7961C>A (n.*7961C>A) c.553G>T (p.Ala185Ser) c.373G>T (p.Ala125Ser) n.313G>T c.574G>T (p.Ala192Ser) c.*8116C>A (n.*8116C>A) c.307G>T (p.Ala103Ser) c.214G>T (p.Ala72Ser) | |
| 15 | g.48134948C>A | CA392451040 | MYEF2,SLC24A5 | c.*7960G>T (n.*7960G>T) c.554C>A (p.Ala185Glu) c.374C>A (p.Ala125Glu) n.314C>A c.575C>A (p.Ala192Glu) c.*8115G>T (n.*8115G>T) c.308C>A (p.Ala103Glu) c.215C>A (p.Ala72Glu) | gnomAD v4 |
| 15 | g.48134948C= | CA2175374250 | MYEF2,SLC24A5 | c.*7960G= (n.*7960G=) c.554C= (p.Ala185=) c.374C= (p.Ala125=) n.314C= c.575C= (p.Ala192=) c.*8115G= (n.*8115G=) c.308C= (p.Ala103=) c.215C= (p.Ala72=) | |
| 15 | g.48134948C>G | CA392451041 | MYEF2,SLC24A5 | c.*7960G>C (n.*7960G>C) c.554C>G (p.Ala185Gly) c.374C>G (p.Ala125Gly) n.314C>G c.575C>G (p.Ala192Gly) c.*8115G>C (n.*8115G>C) c.308C>G (p.Ala103Gly) c.215C>G (p.Ala72Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48134948C>T | CA392451042 | MYEF2,SLC24A5 | c.*7960G>A (n.*7960G>A) c.554C>T (p.Ala185Val) c.374C>T (p.Ala125Val) n.314C>T c.575C>T (p.Ala192Val) c.*8115G>A (n.*8115G>A) c.308C>T (p.Ala103Val) c.215C>T (p.Ala72Val) | |
| 15 | g.48134949A>C | CA490090523 | MYEF2,SLC24A5 | c.*7959T>G (n.*7959T>G) c.555A>C (p.Ala185=) c.375A>C (p.Ala125=) n.315A>C c.576A>C (p.Ala192=) c.*8114T>G (n.*8114T>G) c.309A>C (p.Ala103=) c.216A>C (p.Ala72=) | |
| 15 | g.48134949A>G | CA490090524 | MYEF2,SLC24A5 | c.*7959T>C (n.*7959T>C) c.555A>G (p.Ala185=) c.375A>G (p.Ala125=) n.315A>G c.576A>G (p.Ala192=) c.*8114T>C (n.*8114T>C) c.309A>G (p.Ala103=) c.216A>G (p.Ala72=) | |
| 15 | g.48134949A>T | CA490090525 | MYEF2,SLC24A5 | c.*7959T>A (n.*7959T>A) c.555A>T (p.Ala185=) c.375A>T (p.Ala125=) n.315A>T c.576A>T (p.Ala192=) c.*8114T>A (n.*8114T>A) c.309A>T (p.Ala103=) c.216A>T (p.Ala72=) | |
| 15 | g.48134950G>A | CA392451043 | MYEF2,SLC24A5 | c.*7958C>T (n.*7958C>T) c.556G>A (p.Val186Ile) c.376G>A (p.Val126Ile) n.316G>A c.577G>A (p.Val193Ile) c.*8113C>T (n.*8113C>T) c.310G>A (p.Val104Ile) c.217G>A (p.Val73Ile) | |
| 15 | g.48134950G>C | CA392451044 | MYEF2,SLC24A5 | c.*7958C>G (n.*7958C>G) c.556G>C (p.Val186Leu) c.376G>C (p.Val126Leu) n.316G>C c.577G>C (p.Val193Leu) c.*8113C>G (n.*8113C>G) c.310G>C (p.Val104Leu) c.217G>C (p.Val73Leu) | |
| 15 | g.48134950G>T | CA392451045 | MYEF2,SLC24A5 | c.*7958C>A (n.*7958C>A) c.556G>T (p.Val186Phe) c.376G>T (p.Val126Phe) n.316G>T c.577G>T (p.Val193Phe) c.*8113C>A (n.*8113C>A) c.310G>T (p.Val104Phe) c.217G>T (p.Val73Phe) | |
| 15 | g.48134951T>A | CA392451047 | MYEF2,SLC24A5 | c.*7957A>T (n.*7957A>T) c.557T>A (p.Val186Asp) c.377T>A (p.Val126Asp) n.317T>A c.578T>A (p.Val193Asp) c.*8112A>T (n.*8112A>T) c.311T>A (p.Val104Asp) c.218T>A (p.Val73Asp) | |
| 15 | g.48134951T>C | CA392451048 | MYEF2,SLC24A5 | c.*7957A>G (n.*7957A>G) c.557T>C (p.Val186Ala) c.377T>C (p.Val126Ala) n.317T>C c.578T>C (p.Val193Ala) c.*8112A>G (n.*8112A>G) c.311T>C (p.Val104Ala) c.218T>C (p.Val73Ala) | |
| 15 | g.48134951T>G | CA392451046 | MYEF2,SLC24A5 | c.*7957A>C (n.*7957A>C) c.557T>G (p.Val186Gly) c.377T>G (p.Val126Gly) n.317T>G c.578T>G (p.Val193Gly) c.*8112A>C (n.*8112A>C) c.311T>G (p.Val104Gly) c.218T>G (p.Val73Gly) | |
| 15 | g.48134952T>A | CA490090526 | MYEF2,SLC24A5 | c.*7956A>T (n.*7956A>T) c.558T>A (p.Val186=) c.378T>A (p.Val126=) n.318T>A c.579T>A (p.Val193=) c.*8111A>T (n.*8111A>T) c.312T>A (p.Val104=) c.219T>A (p.Val73=) | |
| 15 | g.48134952T>C | CA490090527 | MYEF2,SLC24A5 | c.*7956A>G (n.*7956A>G) c.558T>C (p.Val186=) c.378T>C (p.Val126=) n.318T>C c.579T>C (p.Val193=) c.*8111A>G (n.*8111A>G) c.312T>C (p.Val104=) c.219T>C (p.Val73=) | ClinVar gnomAD v4 |
| 15 | g.48134952T>G | CA490090528 | MYEF2,SLC24A5 | c.*7956A>C (n.*7956A>C) c.558T>G (p.Val186=) c.378T>G (p.Val126=) n.318T>G c.579T>G (p.Val193=) c.*8111A>C (n.*8111A>C) c.312T>G (p.Val104=) c.219T>G (p.Val73=) | |
| 15 | g.48134953C>A | CA392451049 | MYEF2,SLC24A5 | c.*7955G>T (n.*7955G>T) c.559C>A (p.Leu187Ile) c.379C>A (p.Leu127Ile) n.319C>A c.580C>A (p.Leu194Ile) c.*8110G>T (n.*8110G>T) c.313C>A (p.Leu105Ile) c.220C>A (p.Leu74Ile) | |
| 15 | g.48134953C>G | CA392451050 | MYEF2,SLC24A5 | c.*7955G>C (n.*7955G>C) c.559C>G (p.Leu187Val) c.379C>G (p.Leu127Val) n.319C>G c.580C>G (p.Leu194Val) c.*8110G>C (n.*8110G>C) c.313C>G (p.Leu105Val) c.220C>G (p.Leu74Val) | |
| 15 | g.48134953C>T | CA392451051 | MYEF2,SLC24A5 | c.*7955G>A (n.*7955G>A) c.559C>T (p.Leu187Phe) c.379C>T (p.Leu127Phe) n.319C>T c.580C>T (p.Leu194Phe) c.*8110G>A (n.*8110G>A) c.313C>T (p.Leu105Phe) c.220C>T (p.Leu74Phe) | |
| 15 | g.48134954T>A | CA392451052 | MYEF2,SLC24A5 | c.*7954A>T (n.*7954A>T) c.560T>A (p.Leu187His) c.380T>A (p.Leu127His) n.320T>A c.581T>A (p.Leu194His) c.*8109A>T (n.*8109A>T) c.314T>A (p.Leu105His) c.221T>A (p.Leu74His) | |
| 15 | g.48134954T>C | CA392451053 | MYEF2,SLC24A5 | c.*7954A>G (n.*7954A>G) c.560T>C (p.Leu187Pro) c.380T>C (p.Leu127Pro) n.320T>C c.581T>C (p.Leu194Pro) c.*8109A>G (n.*8109A>G) c.314T>C (p.Leu105Pro) c.221T>C (p.Leu74Pro) | ClinVar |
| 15 | g.48134954T>G | CA392451054 | MYEF2,SLC24A5 | c.*7954A>C (n.*7954A>C) c.560T>G (p.Leu187Arg) c.380T>G (p.Leu127Arg) n.320T>G c.581T>G (p.Leu194Arg) c.*8109A>C (n.*8109A>C) c.314T>G (p.Leu105Arg) c.221T>G (p.Leu74Arg) | |
| 15 | g.48134955T>A | CA490090531 | MYEF2,SLC24A5 | c.*7953A>T (n.*7953A>T) c.561T>A (p.Leu187=) c.381T>A (p.Leu127=) n.321T>A c.582T>A (p.Leu194=) c.*8108A>T (n.*8108A>T) c.315T>A (p.Leu105=) c.222T>A (p.Leu74=) | |
| 15 | g.48134955T>C | CA269989566 | MYEF2,SLC24A5 | c.*7953A>G (n.*7953A>G) c.561T>C (p.Leu187=) c.381T>C (p.Leu127=) n.321T>C c.582T>C (p.Leu194=) c.*8108A>G (n.*8108A>G) c.315T>C (p.Leu105=) c.222T>C (p.Leu74=) | dbSNP gnomAD v2 gnomAD v4 |