| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48134910A>C | CA490090497 | MYEF2,SLC24A5 | c.*7998T>G (n.*7998T>G) c.516A>C (p.Leu172=) c.336A>C (p.Leu112=) n.276A>C c.537A>C (p.Leu179=) c.*8153T>G (n.*8153T>G) c.270A>C (p.Leu90=) c.177A>C (p.Leu59=) | dbSNP |
| 15 | g.48134910A>G | CA490090498 | MYEF2,SLC24A5 | c.*7998T>C (n.*7998T>C) c.516A>G (p.Leu172=) c.336A>G (p.Leu112=) n.276A>G c.537A>G (p.Leu179=) c.*8153T>C (n.*8153T>C) c.270A>G (p.Leu90=) c.177A>G (p.Leu59=) | |
| 15 | g.48134910A>T | CA490090499 | MYEF2,SLC24A5 | c.*7998T>A (n.*7998T>A) c.516A>T (p.Leu172=) c.336A>T (p.Leu112=) n.276A>T c.537A>T (p.Leu179=) c.*8153T>A (n.*8153T>A) c.270A>T (p.Leu90=) c.177A>T (p.Leu59=) | |
| 15 | g.48134911T>A | CA392450476 | MYEF2,SLC24A5 | c.*7997A>T (n.*7997A>T) c.517T>A (p.Phe173Ile) c.337T>A (p.Phe113Ile) n.277T>A c.538T>A (p.Phe180Ile) c.*8152A>T (n.*8152A>T) c.271T>A (p.Phe91Ile) c.178T>A (p.Phe60Ile) | |
| 15 | g.48134911T>C | CA392450478 | MYEF2,SLC24A5 | c.*7997A>G (n.*7997A>G) c.517T>C (p.Phe173Leu) c.337T>C (p.Phe113Leu) n.277T>C c.538T>C (p.Phe180Leu) c.*8152A>G (n.*8152A>G) c.271T>C (p.Phe91Leu) c.178T>C (p.Phe60Leu) | |
| 15 | g.48134911T>G | CA392450477 | MYEF2,SLC24A5 | c.*7997A>C (n.*7997A>C) c.517T>G (p.Phe173Val) c.337T>G (p.Phe113Val) n.277T>G c.538T>G (p.Phe180Val) c.*8152A>C (n.*8152A>C) c.271T>G (p.Phe91Val) c.178T>G (p.Phe60Val) | |
| 15 | g.48134912T>A | CA392450481 | MYEF2,SLC24A5 | c.*7996A>T (n.*7996A>T) c.518T>A (p.Phe173Tyr) c.338T>A (p.Phe113Tyr) n.278T>A c.539T>A (p.Phe180Tyr) c.*8151A>T (n.*8151A>T) c.272T>A (p.Phe91Tyr) c.179T>A (p.Phe60Tyr) | |
| 15 | g.48134912T>C | CA392450484 | MYEF2,SLC24A5 | c.*7996A>G (n.*7996A>G) c.518T>C (p.Phe173Ser) c.338T>C (p.Phe113Ser) n.278T>C c.539T>C (p.Phe180Ser) c.*8151A>G (n.*8151A>G) c.272T>C (p.Phe91Ser) c.179T>C (p.Phe60Ser) | |
| 15 | g.48134912T>G | CA392450482 | MYEF2,SLC24A5 | c.*7996A>C (n.*7996A>C) c.518T>G (p.Phe173Cys) c.338T>G (p.Phe113Cys) n.278T>G c.539T>G (p.Phe180Cys) c.*8151A>C (n.*8151A>C) c.272T>G (p.Phe91Cys) c.179T>G (p.Phe60Cys) | |
| 15 | g.48134913C>A | CA392450486 | MYEF2,SLC24A5 | c.*7995G>T (n.*7995G>T) c.519C>A (p.Phe173Leu) c.339C>A (p.Phe113Leu) n.279C>A c.540C>A (p.Phe180Leu) c.*8150G>T (n.*8150G>T) c.273C>A (p.Phe91Leu) c.180C>A (p.Phe60Leu) | |
| 15 | g.48134913C>G | CA392450488 | MYEF2,SLC24A5 | c.*7995G>C (n.*7995G>C) c.519C>G (p.Phe173Leu) c.339C>G (p.Phe113Leu) n.279C>G c.540C>G (p.Phe180Leu) c.*8150G>C (n.*8150G>C) c.273C>G (p.Phe91Leu) c.180C>G (p.Phe60Leu) | |
| 15 | g.48134913C>T | CA490090500 | MYEF2,SLC24A5 | c.*7995G>A (n.*7995G>A) c.519C>T (p.Phe173=) c.339C>T (p.Phe113=) n.279C>T c.540C>T (p.Phe180=) c.*8150G>A (n.*8150G>A) c.273C>T (p.Phe91=) c.180C>T (p.Phe60=) | |
| 15 | g.48134916_48134926del | CA2580089522 | MYEF2,SLC24A5 | c.*7985_*7995del (n.*7985_*7995del) c.522_532del (p.Arg174SerfsTer5) c.342_352del (p.Arg114SerfsTer5) n.282_292del c.543_553del (p.Arg181SerfsTer5) c.*8140_*8150del (n.*8140_*8150del) c.276_286del (p.Arg92SerfsTer5) c.183_193del (p.Arg61SerfsTer5) | ClinVar gnomAD v4 |
| 15 | g.48134914A= | CA2175374238 | MYEF2,SLC24A5 | c.*7994T= (n.*7994T=) c.520A= (p.Arg174=) c.340A= (p.Arg114=) n.280A= c.541A= (p.Arg181=) c.*8149T= (n.*8149T=) c.274A= (p.Arg92=) c.181A= (p.Arg61=) | |
| 15 | g.48134914A>C | CA490090501 | MYEF2,SLC24A5 | c.*7994T>G (n.*7994T>G) c.520A>C (p.Arg174=) c.340A>C (p.Arg114=) n.280A>C c.541A>C (p.Arg181=) c.*8149T>G (n.*8149T>G) c.274A>C (p.Arg92=) c.181A>C (p.Arg61=) | |
| 15 | g.48134914A>G | CA392450491 | MYEF2,SLC24A5 | c.*7994T>C (n.*7994T>C) c.520A>G (p.Arg174Gly) c.340A>G (p.Arg114Gly) n.280A>G c.541A>G (p.Arg181Gly) c.*8149T>C (n.*8149T>C) c.274A>G (p.Arg92Gly) c.181A>G (p.Arg61Gly) | dbSNP gnomAD v4 |
| 15 | g.48134914A>T | CA392450493 | MYEF2,SLC24A5 | c.*7994T>A (n.*7994T>A) c.520A>T (p.Arg174Ter) c.340A>T (p.Arg114Ter) n.280A>T c.541A>T (p.Arg181Ter) c.*8149T>A (n.*8149T>A) c.274A>T (p.Arg92Ter) c.181A>T (p.Arg61Ter) | COSMIC |
| 15 | g.48134915G>A | CA392450495 | MYEF2,SLC24A5 | c.*7993C>T (n.*7993C>T) c.521G>A (p.Arg174Lys) c.341G>A (p.Arg114Lys) n.281G>A c.542G>A (p.Arg181Lys) c.*8148C>T (n.*8148C>T) c.275G>A (p.Arg92Lys) c.182G>A (p.Arg61Lys) | ClinVar dbSNP |
| 15 | g.48134915G>C | CA392450497 | MYEF2,SLC24A5 | c.*7993C>G (n.*7993C>G) c.521G>C (p.Arg174Thr) c.341G>C (p.Arg114Thr) n.281G>C c.542G>C (p.Arg181Thr) c.*8148C>G (n.*8148C>G) c.275G>C (p.Arg92Thr) c.182G>C (p.Arg61Thr) | |
| 15 | g.48134915G= | CA2175374239 | MYEF2,SLC24A5 | c.*7993C= (n.*7993C=) c.521G= (p.Arg174=) c.341G= (p.Arg114=) n.281G= c.542G= (p.Arg181=) c.*8148C= (n.*8148C=) c.275G= (p.Arg92=) c.182G= (p.Arg61=) | |
| 15 | g.48134915G>T | CA392450499 | MYEF2,SLC24A5 | c.*7993C>A (n.*7993C>A) c.521G>T (p.Arg174Ile) c.341G>T (p.Arg114Ile) n.281G>T c.542G>T (p.Arg181Ile) c.*8148C>A (n.*8148C>A) c.275G>T (p.Arg92Ile) c.182G>T (p.Arg61Ile) | |
| 15 | g.48134916A>C | CA392450502 | MYEF2,SLC24A5 | c.*7992T>G (n.*7992T>G) c.522A>C (p.Arg174Ser) c.342A>C (p.Arg114Ser) n.282A>C c.543A>C (p.Arg181Ser) c.*8147T>G (n.*8147T>G) c.276A>C (p.Arg92Ser) c.183A>C (p.Arg61Ser) | |
| 15 | g.48134916A>G | CA490090502 | MYEF2,SLC24A5 | c.*7992T>C (n.*7992T>C) c.522A>G (p.Arg174=) c.342A>G (p.Arg114=) n.282A>G c.543A>G (p.Arg181=) c.*8147T>C (n.*8147T>C) c.276A>G (p.Arg92=) c.183A>G (p.Arg61=) | |
| 15 | g.48134916A>T | CA392450504 | MYEF2,SLC24A5 | c.*7992T>A (n.*7992T>A) c.522A>T (p.Arg174Ser) c.342A>T (p.Arg114Ser) n.282A>T c.543A>T (p.Arg181Ser) c.*8147T>A (n.*8147T>A) c.276A>T (p.Arg92Ser) c.183A>T (p.Arg61Ser) | |
| 15 | g.48134917G>A | CA392450506 | MYEF2,SLC24A5 | c.*7991C>T (n.*7991C>T) c.523G>A (p.Asp175Asn) c.343G>A (p.Asp115Asn) n.283G>A c.544G>A (p.Asp182Asn) c.*8146C>T (n.*8146C>T) c.277G>A (p.Asp93Asn) c.184G>A (p.Asp62Asn) | |
| 15 | g.48134917G>C | CA392450508 | MYEF2,SLC24A5 | c.*7991C>G (n.*7991C>G) c.523G>C (p.Asp175His) c.343G>C (p.Asp115His) n.283G>C c.544G>C (p.Asp182His) c.*8146C>G (n.*8146C>G) c.277G>C (p.Asp93His) c.184G>C (p.Asp62His) | |
| 15 | g.48134917G>T | CA392450509 | MYEF2,SLC24A5 | c.*7991C>A (n.*7991C>A) c.523G>T (p.Asp175Tyr) c.343G>T (p.Asp115Tyr) n.283G>T c.544G>T (p.Asp182Tyr) c.*8146C>A (n.*8146C>A) c.277G>T (p.Asp93Tyr) c.184G>T (p.Asp62Tyr) | |
| 15 | g.48134918A>C | CA392450515 | MYEF2,SLC24A5 | c.*7990T>G (n.*7990T>G) c.524A>C (p.Asp175Ala) c.344A>C (p.Asp115Ala) n.284A>C c.545A>C (p.Asp182Ala) c.*8145T>G (n.*8145T>G) c.278A>C (p.Asp93Ala) c.185A>C (p.Asp62Ala) | |
| 15 | g.48134918A>G | CA392450512 | MYEF2,SLC24A5 | c.*7990T>C (n.*7990T>C) c.524A>G (p.Asp175Gly) c.344A>G (p.Asp115Gly) n.284A>G c.545A>G (p.Asp182Gly) c.*8145T>C (n.*8145T>C) c.278A>G (p.Asp93Gly) c.185A>G (p.Asp62Gly) | |
| 15 | g.48134918A>T | CA392450514 | MYEF2,SLC24A5 | c.*7990T>A (n.*7990T>A) c.524A>T (p.Asp175Val) c.344A>T (p.Asp115Val) n.284A>T c.545A>T (p.Asp182Val) c.*8145T>A (n.*8145T>A) c.278A>T (p.Asp93Val) c.185A>T (p.Asp62Val) | |
| 15 | g.48134919C>A | CA392450518 | MYEF2,SLC24A5 | c.*7989G>T (n.*7989G>T) c.525C>A (p.Asp175Glu) c.345C>A (p.Asp115Glu) n.285C>A c.546C>A (p.Asp182Glu) c.*8144G>T (n.*8144G>T) c.279C>A (p.Asp93Glu) c.186C>A (p.Asp62Glu) | |
| 15 | g.48134919C>G | CA392450520 | MYEF2,SLC24A5 | c.*7989G>C (n.*7989G>C) c.525C>G (p.Asp175Glu) c.345C>G (p.Asp115Glu) n.285C>G c.546C>G (p.Asp182Glu) c.*8144G>C (n.*8144G>C) c.279C>G (p.Asp93Glu) c.186C>G (p.Asp62Glu) | gnomAD v4 |
| 15 | g.48134919C>T | CA490090503 | MYEF2,SLC24A5 | c.*7989G>A (n.*7989G>A) c.525C>T (p.Asp175=) c.345C>T (p.Asp115=) n.285C>T c.546C>T (p.Asp182=) c.*8144G>A (n.*8144G>A) c.279C>T (p.Asp93=) c.186C>T (p.Asp62=) | |
| 15 | g.48134920T>A | CA392450523 | MYEF2,SLC24A5 | c.*7988A>T (n.*7988A>T) c.526T>A (p.Cys176Ser) c.346T>A (p.Cys116Ser) n.286T>A c.547T>A (p.Cys183Ser) c.*8143A>T (n.*8143A>T) c.280T>A (p.Cys94Ser) c.187T>A (p.Cys63Ser) | |
| 15 | g.48134920T>C | CA392450525 | MYEF2,SLC24A5 | c.*7988A>G (n.*7988A>G) c.526T>C (p.Cys176Arg) c.346T>C (p.Cys116Arg) n.286T>C c.547T>C (p.Cys183Arg) c.*8143A>G (n.*8143A>G) c.280T>C (p.Cys94Arg) c.187T>C (p.Cys63Arg) | gnomAD v4 |
| 15 | g.48134920T>G | CA392450527 | MYEF2,SLC24A5 | c.*7988A>C (n.*7988A>C) c.526T>G (p.Cys176Gly) c.346T>G (p.Cys116Gly) n.286T>G c.547T>G (p.Cys183Gly) c.*8143A>C (n.*8143A>C) c.280T>G (p.Cys94Gly) c.187T>G (p.Cys63Gly) | |
| 15 | g.48134922_48134923del | CA2575714866 | MYEF2,SLC24A5 | c.*7987_*7988del (n.*7987_*7988del) c.528_529del (p.Ala177SerfsTer5) c.348_349del (p.Ala117SerfsTer5) n.288_289del c.549_550del (p.Ala184SerfsTer5) c.*8142_*8143del (n.*8142_*8143del) c.282_283del (p.Ala95SerfsTer5) c.189_190del (p.Ala64SerfsTer5) | |
| 15 | g.48134921G>A | CA392450982 | MYEF2,SLC24A5 | c.*7987C>T (n.*7987C>T) c.527G>A (p.Cys176Tyr) c.347G>A (p.Cys116Tyr) n.287G>A c.548G>A (p.Cys183Tyr) c.*8142C>T (n.*8142C>T) c.281G>A (p.Cys94Tyr) c.188G>A (p.Cys63Tyr) | |
| 15 | g.48134921G>C | CA392450983 | MYEF2,SLC24A5 | c.*7987C>G (n.*7987C>G) c.527G>C (p.Cys176Ser) c.347G>C (p.Cys116Ser) n.287G>C c.548G>C (p.Cys183Ser) c.*8142C>G (n.*8142C>G) c.281G>C (p.Cys94Ser) c.188G>C (p.Cys63Ser) | |
| 15 | g.48134921G>T | CA392450984 | MYEF2,SLC24A5 | c.*7987C>A (n.*7987C>A) c.527G>T (p.Cys176Phe) c.347G>T (p.Cys116Phe) n.287G>T c.548G>T (p.Cys183Phe) c.*8142C>A (n.*8142C>A) c.281G>T (p.Cys94Phe) c.188G>T (p.Cys63Phe) | |
| 15 | g.48134922T>A | CA392450985 | MYEF2,SLC24A5 | c.*7986A>T (n.*7986A>T) c.528T>A (p.Cys176Ter) c.348T>A (p.Cys116Ter) n.288T>A c.549T>A (p.Cys183Ter) c.*8141A>T (n.*8141A>T) c.282T>A (p.Cys94Ter) c.189T>A (p.Cys63Ter) | ClinVar dbSNP |
| 15 | g.48134922T>C | CA490090504 | MYEF2,SLC24A5 | c.*7986A>G (n.*7986A>G) c.528T>C (p.Cys176=) c.348T>C (p.Cys116=) n.288T>C c.549T>C (p.Cys183=) c.*8141A>G (n.*8141A>G) c.282T>C (p.Cys94=) c.189T>C (p.Cys63=) | dbSNP gnomAD v4 |
| 15 | g.48134922T>G | CA392450986 | MYEF2,SLC24A5 | c.*7986A>C (n.*7986A>C) c.528T>G (p.Cys176Trp) c.348T>G (p.Cys116Trp) n.288T>G c.549T>G (p.Cys183Trp) c.*8141A>C (n.*8141A>C) c.282T>G (p.Cys94Trp) c.189T>G (p.Cys63Trp) | |
| 15 | g.48134922T= | CA2175374240 | MYEF2,SLC24A5 | c.*7986A= (n.*7986A=) c.528T= (p.Cys176=) c.348T= (p.Cys116=) n.288T= c.549T= (p.Cys183=) c.*8141A= (n.*8141A=) c.282T= (p.Cys94=) c.189T= (p.Cys63=) | |
| 15 | g.48134923G>A | CA392450989 | MYEF2,SLC24A5 | c.*7985C>T (n.*7985C>T) c.529G>A (p.Ala177Thr) c.349G>A (p.Ala117Thr) n.289G>A c.550G>A (p.Ala184Thr) c.*8140C>T (n.*8140C>T) c.283G>A (p.Ala95Thr) c.190G>A (p.Ala64Thr) | |
| 15 | g.48134923G>C | CA392450988 | MYEF2,SLC24A5 | c.*7985C>G (n.*7985C>G) c.529G>C (p.Ala177Pro) c.349G>C (p.Ala117Pro) n.289G>C c.550G>C (p.Ala184Pro) c.*8140C>G (n.*8140C>G) c.283G>C (p.Ala95Pro) c.190G>C (p.Ala64Pro) | |
| 15 | g.48134923G>T | CA392450987 | MYEF2,SLC24A5 | c.*7985C>A (n.*7985C>A) c.529G>T (p.Ala177Ser) c.349G>T (p.Ala117Ser) n.289G>T c.550G>T (p.Ala184Ser) c.*8140C>A (n.*8140C>A) c.283G>T (p.Ala95Ser) c.190G>T (p.Ala64Ser) | COSMIC |
| 15 | g.48134924C>A | CA392450990 | MYEF2,SLC24A5 | c.*7984G>T (n.*7984G>T) c.530C>A (p.Ala177Glu) c.350C>A (p.Ala117Glu) n.290C>A c.551C>A (p.Ala184Glu) c.*8139G>T (n.*8139G>T) c.284C>A (p.Ala95Glu) c.191C>A (p.Ala64Glu) | |
| 15 | g.48134924C>G | CA392450991 | MYEF2,SLC24A5 | c.*7984G>C (n.*7984G>C) c.530C>G (p.Ala177Gly) c.350C>G (p.Ala117Gly) n.290C>G c.551C>G (p.Ala184Gly) c.*8139G>C (n.*8139G>C) c.284C>G (p.Ala95Gly) c.191C>G (p.Ala64Gly) | |
| 15 | g.48134924C>T | CA392450992 | MYEF2,SLC24A5 | c.*7984G>A (n.*7984G>A) c.530C>T (p.Ala177Val) c.350C>T (p.Ala117Val) n.290C>T c.551C>T (p.Ala184Val) c.*8139G>A (n.*8139G>A) c.284C>T (p.Ala95Val) c.191C>T (p.Ala64Val) | |
| 15 | g.48134925A= | CA2175374241 | MYEF2,SLC24A5 | c.*7983T= (n.*7983T=) c.531A= (p.Ala177=) c.351A= (p.Ala117=) n.291A= c.552A= (p.Ala184=) c.*8138T= (n.*8138T=) c.285A= (p.Ala95=) c.192A= (p.Ala64=) | |
| 15 | g.48134925A>C | CA490090507 | MYEF2,SLC24A5 | c.*7983T>G (n.*7983T>G) c.531A>C (p.Ala177=) c.351A>C (p.Ala117=) n.291A>C c.552A>C (p.Ala184=) c.*8138T>G (n.*8138T>G) c.285A>C (p.Ala95=) c.192A>C (p.Ala64=) | |
| 15 | g.48134925A>G | CA490090506 | MYEF2,SLC24A5 | c.*7983T>C (n.*7983T>C) c.531A>G (p.Ala177=) c.351A>G (p.Ala117=) n.291A>G c.552A>G (p.Ala184=) c.*8138T>C (n.*8138T>C) c.285A>G (p.Ala95=) c.192A>G (p.Ala64=) | dbSNP gnomAD v4 |
| 15 | g.48134925A>T | CA490090505 | MYEF2,SLC24A5 | c.*7983T>A (n.*7983T>A) c.531A>T (p.Ala177=) c.351A>T (p.Ala117=) n.291A>T c.552A>T (p.Ala184=) c.*8138T>A (n.*8138T>A) c.285A>T (p.Ala95=) c.192A>T (p.Ala64=) | |
| 15 | g.48134926G>A | CA392450993 | MYEF2,SLC24A5 | c.*7982C>T (n.*7982C>T) c.532G>A (p.Ala178Thr) c.352G>A (p.Ala118Thr) n.292G>A c.553G>A (p.Ala185Thr) c.*8137C>T (n.*8137C>T) c.286G>A (p.Ala96Thr) c.193G>A (p.Ala65Thr) | gnomAD v4 |
| 15 | g.48134926G>C | CA392450994 | MYEF2,SLC24A5 | c.*7982C>G (n.*7982C>G) c.532G>C (p.Ala178Pro) c.352G>C (p.Ala118Pro) n.292G>C c.553G>C (p.Ala185Pro) c.*8137C>G (n.*8137C>G) c.286G>C (p.Ala96Pro) c.193G>C (p.Ala65Pro) | |
| 15 | g.48134926G>T | CA392450995 | MYEF2,SLC24A5 | c.*7982C>A (n.*7982C>A) c.532G>T (p.Ala178Ser) c.352G>T (p.Ala118Ser) n.292G>T c.553G>T (p.Ala185Ser) c.*8137C>A (n.*8137C>A) c.286G>T (p.Ala96Ser) c.193G>T (p.Ala65Ser) | |
| 15 | g.48134927C>A | CA392450996 | MYEF2,SLC24A5 | c.*7981G>T (n.*7981G>T) c.533C>A (p.Ala178Glu) c.353C>A (p.Ala118Glu) n.293C>A c.554C>A (p.Ala185Glu) c.*8136G>T (n.*8136G>T) c.287C>A (p.Ala96Glu) c.194C>A (p.Ala65Glu) | |
| 15 | g.48134927C= | CA2175374242 | MYEF2,SLC24A5 | c.*7981G= (n.*7981G=) c.533C= (p.Ala178=) c.353C= (p.Ala118=) n.293C= c.554C= (p.Ala185=) c.*8136G= (n.*8136G=) c.287C= (p.Ala96=) c.194C= (p.Ala65=) | |
| 15 | g.48134927C>G | CA392450997 | MYEF2,SLC24A5 | c.*7981G>C (n.*7981G>C) c.533C>G (p.Ala178Gly) c.353C>G (p.Ala118Gly) n.293C>G c.554C>G (p.Ala185Gly) c.*8136G>C (n.*8136G>C) c.287C>G (p.Ala96Gly) c.194C>G (p.Ala65Gly) | COSMIC |
| 15 | g.48134927C>T | CA7545904 | MYEF2,SLC24A5 | c.*7981G>A (n.*7981G>A) c.533C>T (p.Ala178Val) c.353C>T (p.Ala118Val) n.293C>T c.554C>T (p.Ala185Val) c.*8136G>A (n.*8136G>A) c.287C>T (p.Ala96Val) c.194C>T (p.Ala65Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48134928G>A | CA7545905 | MYEF2,SLC24A5 | c.*7980C>T (n.*7980C>T) c.534G>A (p.Ala178=) c.354G>A (p.Ala118=) n.294G>A c.555G>A (p.Ala185=) c.*8135C>T (n.*8135C>T) c.288G>A (p.Ala96=) c.195G>A (p.Ala65=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48134928G>C | CA490090509 | MYEF2,SLC24A5 | c.*7980C>G (n.*7980C>G) c.534G>C (p.Ala178=) c.354G>C (p.Ala118=) n.294G>C c.555G>C (p.Ala185=) c.*8135C>G (n.*8135C>G) c.288G>C (p.Ala96=) c.195G>C (p.Ala65=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48134928G= | CA2175374243 | MYEF2,SLC24A5 | c.*7980C= (n.*7980C=) c.534G= (p.Ala178=) c.354G= (p.Ala118=) n.294G= c.555G= (p.Ala185=) c.*8135C= (n.*8135C=) c.288G= (p.Ala96=) c.195G= (p.Ala65=) | |
| 15 | g.48134928G>T | CA490090508 | MYEF2,SLC24A5 | c.*7980C>A (n.*7980C>A) c.534G>T (p.Ala178=) c.354G>T (p.Ala118=) n.294G>T c.555G>T (p.Ala185=) c.*8135C>A (n.*8135C>A) c.288G>T (p.Ala96=) c.195G>T (p.Ala65=) | |
| 15 | g.48134929T>A | CA392450998 | MYEF2,SLC24A5 | c.*7979A>T (n.*7979A>T) c.535T>A (p.Tyr179Asn) c.355T>A (p.Tyr119Asn) n.295T>A c.556T>A (p.Tyr186Asn) c.*8134A>T (n.*8134A>T) c.289T>A (p.Tyr97Asn) c.196T>A (p.Tyr66Asn) | |
| 15 | g.48134929T>C | CA392450999 | MYEF2,SLC24A5 | c.*7979A>G (n.*7979A>G) c.535T>C (p.Tyr179His) c.355T>C (p.Tyr119His) n.295T>C c.556T>C (p.Tyr186His) c.*8134A>G (n.*8134A>G) c.289T>C (p.Tyr97His) c.196T>C (p.Tyr66His) | |
| 15 | g.48134929T>G | CA392451000 | MYEF2,SLC24A5 | c.*7979A>C (n.*7979A>C) c.535T>G (p.Tyr179Asp) c.355T>G (p.Tyr119Asp) n.295T>G c.556T>G (p.Tyr186Asp) c.*8134A>C (n.*8134A>C) c.289T>G (p.Tyr97Asp) c.196T>G (p.Tyr66Asp) | |
| 15 | g.48134930A>C | CA392451003 | MYEF2,SLC24A5 | c.*7978T>G (n.*7978T>G) c.536A>C (p.Tyr179Ser) c.356A>C (p.Tyr119Ser) n.296A>C c.557A>C (p.Tyr186Ser) c.*8133T>G (n.*8133T>G) c.290A>C (p.Tyr97Ser) c.197A>C (p.Tyr66Ser) | |
| 15 | g.48134930A>G | CA392451001 | MYEF2,SLC24A5 | c.*7978T>C (n.*7978T>C) c.536A>G (p.Tyr179Cys) c.356A>G (p.Tyr119Cys) n.296A>G c.557A>G (p.Tyr186Cys) c.*8133T>C (n.*8133T>C) c.290A>G (p.Tyr97Cys) c.197A>G (p.Tyr66Cys) | |
| 15 | g.48134930A>T | CA392451002 | MYEF2,SLC24A5 | c.*7978T>A (n.*7978T>A) c.536A>T (p.Tyr179Phe) c.356A>T (p.Tyr119Phe) n.296A>T c.557A>T (p.Tyr186Phe) c.*8133T>A (n.*8133T>A) c.290A>T (p.Tyr97Phe) c.197A>T (p.Tyr66Phe) | |
| 15 | g.48134931C>A | CA392451004 | MYEF2,SLC24A5 | c.*7977G>T (n.*7977G>T) c.537C>A (p.Tyr179Ter) c.357C>A (p.Tyr119Ter) n.297C>A c.558C>A (p.Tyr186Ter) c.*8132G>T (n.*8132G>T) c.291C>A (p.Tyr97Ter) c.198C>A (p.Tyr66Ter) | |
| 15 | g.48134931C>G | CA392451005 | MYEF2,SLC24A5 | c.*7977G>C (n.*7977G>C) c.537C>G (p.Tyr179Ter) c.357C>G (p.Tyr119Ter) n.297C>G c.558C>G (p.Tyr186Ter) c.*8132G>C (n.*8132G>C) c.291C>G (p.Tyr97Ter) c.198C>G (p.Tyr66Ter) | |
| 15 | g.48134931C>T | CA490090510 | MYEF2,SLC24A5 | c.*7977G>A (n.*7977G>A) c.537C>T (p.Tyr179=) c.357C>T (p.Tyr119=) n.297C>T c.558C>T (p.Tyr186=) c.*8132G>A (n.*8132G>A) c.291C>T (p.Tyr97=) c.198C>T (p.Tyr66=) | ClinVar |
| 15 | g.48134932A>C | CA392451006 | MYEF2,SLC24A5 | c.*7976T>G (n.*7976T>G) c.538A>C (p.Thr180Pro) c.358A>C (p.Thr120Pro) n.298A>C c.559A>C (p.Thr187Pro) c.*8131T>G (n.*8131T>G) c.292A>C (p.Thr98Pro) c.199A>C (p.Thr67Pro) | |
| 15 | g.48134932A>G | CA392451007 | MYEF2,SLC24A5 | c.*7976T>C (n.*7976T>C) c.538A>G (p.Thr180Ala) c.358A>G (p.Thr120Ala) n.298A>G c.559A>G (p.Thr187Ala) c.*8131T>C (n.*8131T>C) c.292A>G (p.Thr98Ala) c.199A>G (p.Thr67Ala) | |
| 15 | g.48134932A>T | CA392451008 | MYEF2,SLC24A5 | c.*7976T>A (n.*7976T>A) c.538A>T (p.Thr180Ser) c.358A>T (p.Thr120Ser) n.298A>T c.559A>T (p.Thr187Ser) c.*8131T>A (n.*8131T>A) c.292A>T (p.Thr98Ser) c.199A>T (p.Thr67Ser) | |
| 15 | g.48134933C>A | CA392451009 | MYEF2,SLC24A5 | c.*7975G>T (n.*7975G>T) c.539C>A (p.Thr180Lys) c.359C>A (p.Thr120Lys) n.299C>A c.560C>A (p.Thr187Lys) c.*8130G>T (n.*8130G>T) c.293C>A (p.Thr98Lys) c.200C>A (p.Thr67Lys) | gnomAD v4 COSMIC |
| 15 | g.48134933C= | CA2175374244 | MYEF2,SLC24A5 | c.*7975G= (n.*7975G=) c.539C= (p.Thr180=) c.359C= (p.Thr120=) n.299C= c.560C= (p.Thr187=) c.*8130G= (n.*8130G=) c.293C= (p.Thr98=) c.200C= (p.Thr67=) | |
| 15 | g.48134933C>G | CA392451010 | MYEF2,SLC24A5 | c.*7975G>C (n.*7975G>C) c.539C>G (p.Thr180Arg) c.359C>G (p.Thr120Arg) n.299C>G c.560C>G (p.Thr187Arg) c.*8130G>C (n.*8130G>C) c.293C>G (p.Thr98Arg) c.200C>G (p.Thr67Arg) | |
| 15 | g.48134933C>T | CA392451011 | MYEF2,SLC24A5 | c.*7975G>A (n.*7975G>A) c.539C>T (p.Thr180Ile) c.359C>T (p.Thr120Ile) n.299C>T c.560C>T (p.Thr187Ile) c.*8130G>A (n.*8130G>A) c.293C>T (p.Thr98Ile) c.200C>T (p.Thr67Ile) | dbSNP gnomAD v4 |
| 15 | g.48134934A>C | CA490090511 | MYEF2,SLC24A5 | c.*7974T>G (n.*7974T>G) c.540A>C (p.Thr180=) c.360A>C (p.Thr120=) n.300A>C c.561A>C (p.Thr187=) c.*8129T>G (n.*8129T>G) c.294A>C (p.Thr98=) c.201A>C (p.Thr67=) | |
| 15 | g.48134934A>G | CA490090512 | MYEF2,SLC24A5 | c.*7974T>C (n.*7974T>C) c.540A>G (p.Thr180=) c.360A>G (p.Thr120=) n.300A>G c.561A>G (p.Thr187=) c.*8129T>C (n.*8129T>C) c.294A>G (p.Thr98=) c.201A>G (p.Thr67=) | |
| 15 | g.48134934A>T | CA490090513 | MYEF2,SLC24A5 | c.*7974T>A (n.*7974T>A) c.540A>T (p.Thr180=) c.360A>T (p.Thr120=) n.300A>T c.561A>T (p.Thr187=) c.*8129T>A (n.*8129T>A) c.294A>T (p.Thr98=) c.201A>T (p.Thr67=) | |
| 15 | g.48134935A= | CA2175374245 | MYEF2,SLC24A5 | c.*7973T= (n.*7973T=) c.541A= (p.Ile181=) c.361A= (p.Ile121=) n.301A= c.562A= (p.Ile188=) c.*8128T= (n.*8128T=) c.295A= (p.Ile99=) c.202A= (p.Ile68=) | |
| 15 | g.48134935A>C | CA392451012 | MYEF2,SLC24A5 | c.*7973T>G (n.*7973T>G) c.541A>C (p.Ile181Leu) c.361A>C (p.Ile121Leu) n.301A>C c.562A>C (p.Ile188Leu) c.*8128T>G (n.*8128T>G) c.295A>C (p.Ile99Leu) c.202A>C (p.Ile68Leu) | |
| 15 | g.48134935A>G | CA392451013 | MYEF2,SLC24A5 | c.*7973T>C (n.*7973T>C) c.541A>G (p.Ile181Val) c.361A>G (p.Ile121Val) n.301A>G c.562A>G (p.Ile188Val) c.*8128T>C (n.*8128T>C) c.295A>G (p.Ile99Val) c.202A>G (p.Ile68Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48134935A>T | CA392451014 | MYEF2,SLC24A5 | c.*7973T>A (n.*7973T>A) c.541A>T (p.Ile181Phe) c.361A>T (p.Ile121Phe) n.301A>T c.562A>T (p.Ile188Phe) c.*8128T>A (n.*8128T>A) c.295A>T (p.Ile99Phe) c.202A>T (p.Ile68Phe) | |
| 15 | g.48134936T>A | CA392451017 | MYEF2,SLC24A5 | c.*7972A>T (n.*7972A>T) c.542T>A (p.Ile181Asn) c.362T>A (p.Ile121Asn) n.302T>A c.563T>A (p.Ile188Asn) c.*8127A>T (n.*8127A>T) c.296T>A (p.Ile99Asn) c.203T>A (p.Ile68Asn) | |
| 15 | g.48134936T>C | CA392451016 | MYEF2,SLC24A5 | c.*7972A>G (n.*7972A>G) c.542T>C (p.Ile181Thr) c.362T>C (p.Ile121Thr) n.302T>C c.563T>C (p.Ile188Thr) c.*8127A>G (n.*8127A>G) c.296T>C (p.Ile99Thr) c.203T>C (p.Ile68Thr) | dbSNP |
| 15 | g.48134936T>G | CA392451015 | MYEF2,SLC24A5 | c.*7972A>C (n.*7972A>C) c.542T>G (p.Ile181Ser) c.362T>G (p.Ile121Ser) n.302T>G c.563T>G (p.Ile188Ser) c.*8127A>C (n.*8127A>C) c.296T>G (p.Ile99Ser) c.203T>G (p.Ile68Ser) | |
| 15 | g.48134936T= | CA2175374246 | MYEF2,SLC24A5 | c.*7972A= (n.*7972A=) c.542T= (p.Ile181=) c.362T= (p.Ile121=) n.302T= c.563T= (p.Ile188=) c.*8127A= (n.*8127A=) c.296T= (p.Ile99=) c.203T= (p.Ile68=) | |
| 15 | g.48134937T>A | CA490090514 | MYEF2,SLC24A5 | c.*7971A>T (n.*7971A>T) c.543T>A (p.Ile181=) c.363T>A (p.Ile121=) n.303T>A c.564T>A (p.Ile188=) c.*8126A>T (n.*8126A>T) c.297T>A (p.Ile99=) c.204T>A (p.Ile68=) | |
| 15 | g.48134937T>C | CA490090515 | MYEF2,SLC24A5 | c.*7971A>G (n.*7971A>G) c.543T>C (p.Ile181=) c.363T>C (p.Ile121=) n.303T>C c.564T>C (p.Ile188=) c.*8126A>G (n.*8126A>G) c.297T>C (p.Ile99=) c.204T>C (p.Ile68=) | |
| 15 | g.48134937T>G | CA392451018 | MYEF2,SLC24A5 | c.*7971A>C (n.*7971A>C) c.543T>G (p.Ile181Met) c.363T>G (p.Ile121Met) n.303T>G c.564T>G (p.Ile188Met) c.*8126A>C (n.*8126A>C) c.297T>G (p.Ile99Met) c.204T>G (p.Ile68Met) | |
| 15 | g.48134938A= | CA2175374247 | MYEF2,SLC24A5 | c.*7970T= (n.*7970T=) c.544A= (p.Ser182=) c.364A= (p.Ser122=) n.304A= c.565A= (p.Ser189=) c.*8125T= (n.*8125T=) c.298A= (p.Ser100=) c.205A= (p.Ser69=) | |
| 15 | g.48134938A>C | CA392451019 | MYEF2,SLC24A5 | c.*7970T>G (n.*7970T>G) c.544A>C (p.Ser182Arg) c.364A>C (p.Ser122Arg) n.304A>C c.565A>C (p.Ser189Arg) c.*8125T>G (n.*8125T>G) c.298A>C (p.Ser100Arg) c.205A>C (p.Ser69Arg) | |
| 15 | g.48134938A>G | CA7545906 | MYEF2,SLC24A5 | c.*7970T>C (n.*7970T>C) c.544A>G (p.Ser182Gly) c.364A>G (p.Ser122Gly) n.304A>G c.565A>G (p.Ser189Gly) c.*8125T>C (n.*8125T>C) c.298A>G (p.Ser100Gly) c.205A>G (p.Ser69Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48134938A>T | CA392451020 | MYEF2,SLC24A5 | c.*7970T>A (n.*7970T>A) c.544A>T (p.Ser182Cys) c.364A>T (p.Ser122Cys) n.304A>T c.565A>T (p.Ser189Cys) c.*8125T>A (n.*8125T>A) c.298A>T (p.Ser100Cys) c.205A>T (p.Ser69Cys) | |
| 15 | g.48134939G>A | CA392451021 | MYEF2,SLC24A5 | c.*7969C>T (n.*7969C>T) c.545G>A (p.Ser182Asn) c.365G>A (p.Ser122Asn) n.305G>A c.566G>A (p.Ser189Asn) c.*8124C>T (n.*8124C>T) c.299G>A (p.Ser100Asn) c.206G>A (p.Ser69Asn) | |
| 15 | g.48134939G>C | CA392451022 | MYEF2,SLC24A5 | c.*7969C>G (n.*7969C>G) c.545G>C (p.Ser182Thr) c.365G>C (p.Ser122Thr) n.305G>C c.566G>C (p.Ser189Thr) c.*8124C>G (n.*8124C>G) c.299G>C (p.Ser100Thr) c.206G>C (p.Ser69Thr) | |
| 15 | g.48134939G>T | CA392451023 | MYEF2,SLC24A5 | c.*7969C>A (n.*7969C>A) c.545G>T (p.Ser182Ile) c.365G>T (p.Ser122Ile) n.305G>T c.566G>T (p.Ser189Ile) c.*8124C>A (n.*8124C>A) c.299G>T (p.Ser100Ile) c.206G>T (p.Ser69Ile) | |
| 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 |
| 15 | g.48134955T>G | CA490090532 | MYEF2,SLC24A5 | c.*7953A>C (n.*7953A>C) c.561T>G (p.Leu187=) c.381T>G (p.Leu127=) n.321T>G c.582T>G (p.Leu194=) c.*8108A>C (n.*8108A>C) c.315T>G (p.Leu105=) c.222T>G (p.Leu74=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48134955T= | CA2175374251 | MYEF2,SLC24A5 | c.*7953A= (n.*7953A=) c.561T= (p.Leu187=) c.381T= (p.Leu127=) n.321T= c.582T= (p.Leu194=) c.*8108A= (n.*8108A=) c.315T= (p.Leu105=) c.222T= (p.Leu74=) | |
| 15 | g.48134956G>A | CA392451055 | MYEF2,SLC24A5 | c.*7952C>T (n.*7952C>T) c.562G>A (p.Gly188Ser) c.382G>A (p.Gly128Ser) n.322G>A c.583G>A (p.Gly195Ser) c.*8107C>T (n.*8107C>T) c.316G>A (p.Gly106Ser) c.223G>A (p.Gly75Ser) | |
| 15 | g.48134956G>C | CA392451057 | MYEF2,SLC24A5 | c.*7952C>G (n.*7952C>G) c.562G>C (p.Gly188Arg) c.382G>C (p.Gly128Arg) n.322G>C c.583G>C (p.Gly195Arg) c.*8107C>G (n.*8107C>G) c.316G>C (p.Gly106Arg) c.223G>C (p.Gly75Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48134956G= | CA2175374252 | MYEF2,SLC24A5 | c.*7952C= (n.*7952C=) c.562G= (p.Gly188=) c.382G= (p.Gly128=) n.322G= c.583G= (p.Gly195=) c.*8107C= (n.*8107C=) c.316G= (p.Gly106=) c.223G= (p.Gly75=) | |
| 15 | g.48134956G>T | CA392451056 | MYEF2,SLC24A5 | c.*7952C>A (n.*7952C>A) c.562G>T (p.Gly188Cys) c.382G>T (p.Gly128Cys) n.322G>T c.583G>T (p.Gly195Cys) c.*8107C>A (n.*8107C>A) c.316G>T (p.Gly106Cys) c.223G>T (p.Gly75Cys) | gnomAD v4 |
| 15 | g.48134957G>A | CA392451058 | MYEF2,SLC24A5 | c.*7951C>T (n.*7951C>T) c.563G>A (p.Gly188Asp) c.383G>A (p.Gly128Asp) n.323G>A c.584G>A (p.Gly195Asp) c.*8106C>T (n.*8106C>T) c.317G>A (p.Gly106Asp) c.224G>A (p.Gly75Asp) | |
| 15 | g.48134957G>C | CA392451059 | MYEF2,SLC24A5 | c.*7951C>G (n.*7951C>G) c.563G>C (p.Gly188Ala) c.383G>C (p.Gly128Ala) n.323G>C c.584G>C (p.Gly195Ala) c.*8106C>G (n.*8106C>G) c.317G>C (p.Gly106Ala) c.224G>C (p.Gly75Ala) | COSMIC |
| 15 | g.48134957G>T | CA392451060 | MYEF2,SLC24A5 | c.*7951C>A (n.*7951C>A) c.563G>T (p.Gly188Val) c.383G>T (p.Gly128Val) n.323G>T c.584G>T (p.Gly195Val) c.*8106C>A (n.*8106C>A) c.317G>T (p.Gly106Val) c.224G>T (p.Gly75Val) | |
| 15 | g.48134957_48134962delinsGTATAA | CA2175374253 | MYEF2,SLC24A5 | c.*7946_*7951delinsTTATAC (n.*7946_*7951delinsTTATAC) c.563_568delinsGTATAA (p.Gly188=) c.383_388delinsGTATAA (p.Gly128=) n.323_328delinsGTATAA c.584_589delinsGTATAA (p.Gly195=) c.*8101_*8106delinsTTATAC (n.*8101_*8106delinsTTATAC) c.317_322delinsGTATAA (p.Gly106=) c.224_229delinsGTATAA (p.Gly75=) | |
| 15 | g.48134958T>A | CA490090533 | MYEF2,SLC24A5 | c.*7950A>T (n.*7950A>T) c.564T>A (p.Gly188=) c.384T>A (p.Gly128=) n.324T>A c.585T>A (p.Gly195=) c.*8105A>T (n.*8105A>T) c.318T>A (p.Gly106=) c.225T>A (p.Gly75=) | |
| 15 | g.48134958T>C | CA490090534 | MYEF2,SLC24A5 | c.*7950A>G (n.*7950A>G) c.564T>C (p.Gly188=) c.384T>C (p.Gly128=) n.324T>C c.585T>C (p.Gly195=) c.*8105A>G (n.*8105A>G) c.318T>C (p.Gly106=) c.225T>C (p.Gly75=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48134958T>G | CA490090535 | MYEF2,SLC24A5 | c.*7950A>C (n.*7950A>C) c.564T>G (p.Gly188=) c.384T>G (p.Gly128=) n.324T>G c.585T>G (p.Gly195=) c.*8105A>C (n.*8105A>C) c.318T>G (p.Gly106=) c.225T>G (p.Gly75=) | |
| 15 | g.48134958T= | CA2175374254 | MYEF2,SLC24A5 | c.*7950A= (n.*7950A=) c.564T= (p.Gly188=) c.384T= (p.Gly128=) n.324T= c.585T= (p.Gly195=) c.*8105A= (n.*8105A=) c.318T= (p.Gly106=) c.225T= (p.Gly75=) | |
| 15 | g.48134962_48134966del | CA7545907 | MYEF2,SLC24A5 | c.*7946_*7950del (n.*7946_*7950del) c.568_572del (p.Ile190Ter) c.388_392del (p.Ile130Ter) n.328_332del c.589_593del (p.Ile197Ter) c.*8101_*8105del (n.*8101_*8105del) c.322_326del (p.Ile108Ter) c.229_233del (p.Ile77Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48134961_48134967del | CA2628304834 | MYEF2,SLC24A5 | c.*7944_*7950del (n.*7944_*7950del) c.567_573del (p.Ile189MetfsTer15) c.387_393del (p.Ile129MetfsTer15) n.327_333del c.588_594del (p.Ile196MetfsTer15) c.*8099_*8105del (n.*8099_*8105del) c.321_327del (p.Ile107MetfsTer15) c.228_234del (p.Ile76MetfsTer15) | gnomAD v4 |
| 15 | g.48134959A>C | CA392451061 | MYEF2,SLC24A5 | c.*7949T>G (n.*7949T>G) c.565A>C (p.Ile189Leu) c.385A>C (p.Ile129Leu) n.325A>C c.586A>C (p.Ile196Leu) c.*8104T>G (n.*8104T>G) c.319A>C (p.Ile107Leu) c.226A>C (p.Ile76Leu) | |
| 15 | g.48134959A>G | CA392451063 | MYEF2,SLC24A5 | c.*7949T>C (n.*7949T>C) c.565A>G (p.Ile189Val) c.385A>G (p.Ile129Val) n.325A>G c.586A>G (p.Ile196Val) c.*8104T>C (n.*8104T>C) c.319A>G (p.Ile107Val) c.226A>G (p.Ile76Val) | |
| 15 | g.48134959A>T | CA392451062 | MYEF2,SLC24A5 | c.*7949T>A (n.*7949T>A) c.565A>T (p.Ile189Leu) c.385A>T (p.Ile129Leu) n.325A>T c.586A>T (p.Ile196Leu) c.*8104T>A (n.*8104T>A) c.319A>T (p.Ile107Leu) c.226A>T (p.Ile76Leu) | |
| 15 | g.48134960T>A | CA392451064 | MYEF2,SLC24A5 | c.*7948A>T (n.*7948A>T) c.566T>A (p.Ile189Lys) c.386T>A (p.Ile129Lys) n.326T>A c.587T>A (p.Ile196Lys) c.*8103A>T (n.*8103A>T) c.320T>A (p.Ile107Lys) c.227T>A (p.Ile76Lys) | |
| 15 | g.48134960T>C | CA392451065 | MYEF2,SLC24A5 | c.*7948A>G (n.*7948A>G) c.566T>C (p.Ile189Thr) c.386T>C (p.Ile129Thr) n.326T>C c.587T>C (p.Ile196Thr) c.*8103A>G (n.*8103A>G) c.320T>C (p.Ile107Thr) c.227T>C (p.Ile76Thr) | gnomAD v4 |
| 15 | g.48134960T>G | CA392451066 | MYEF2,SLC24A5 | c.*7948A>C (n.*7948A>C) c.566T>G (p.Ile189Arg) c.386T>G (p.Ile129Arg) n.326T>G c.587T>G (p.Ile196Arg) c.*8103A>C (n.*8103A>C) c.320T>G (p.Ile107Arg) c.227T>G (p.Ile76Arg) | gnomAD v4 |
| 15 | g.48134961A= | CA2175374255 | MYEF2,SLC24A5 | c.*7947T= (n.*7947T=) c.567A= (p.Ile189=) c.387A= (p.Ile129=) n.327A= c.588A= (p.Ile196=) c.*8102T= (n.*8102T=) c.321A= (p.Ile107=) c.228A= (p.Ile76=) | |
| 15 | g.48134961A>C | CA490090537 | MYEF2,SLC24A5 | c.*7947T>G (n.*7947T>G) c.567A>C (p.Ile189=) c.387A>C (p.Ile129=) n.327A>C c.588A>C (p.Ile196=) c.*8102T>G (n.*8102T>G) c.321A>C (p.Ile107=) c.228A>C (p.Ile76=) | |
| 15 | g.48134961A>G | CA392451067 | MYEF2,SLC24A5 | c.*7947T>C (n.*7947T>C) c.567A>G (p.Ile189Met) c.387A>G (p.Ile129Met) n.327A>G c.588A>G (p.Ile196Met) c.*8102T>C (n.*8102T>C) c.321A>G (p.Ile107Met) c.228A>G (p.Ile76Met) | gnomAD v4 |
| 15 | g.48134961A>T | CA490090538 | MYEF2,SLC24A5 | c.*7947T>A (n.*7947T>A) c.567A>T (p.Ile189=) c.387A>T (p.Ile129=) n.327A>T c.588A>T (p.Ile196=) c.*8102T>A (n.*8102T>A) c.321A>T (p.Ile107=) c.228A>T (p.Ile76=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48134962A>C | CA392451068 | MYEF2,SLC24A5 | c.*7946T>G (n.*7946T>G) c.568A>C (p.Ile190Leu) c.388A>C (p.Ile130Leu) n.328A>C c.589A>C (p.Ile197Leu) c.*8101T>G (n.*8101T>G) c.322A>C (p.Ile108Leu) c.229A>C (p.Ile77Leu) | COSMIC |
| 15 | g.48134962A>G | CA392451069 | MYEF2,SLC24A5 | c.*7946T>C (n.*7946T>C) c.568A>G (p.Ile190Val) c.388A>G (p.Ile130Val) n.328A>G c.589A>G (p.Ile197Val) c.*8101T>C (n.*8101T>C) c.322A>G (p.Ile108Val) c.229A>G (p.Ile77Val) | |
| 15 | g.48134962A>T | CA392451070 | MYEF2,SLC24A5 | c.*7946T>A (n.*7946T>A) c.568A>T (p.Ile190Leu) c.388A>T (p.Ile130Leu) n.328A>T c.589A>T (p.Ile197Leu) c.*8101T>A (n.*8101T>A) c.322A>T (p.Ile108Leu) c.229A>T (p.Ile77Leu) | |
| 15 | g.48134963T>A | CA392451071 | MYEF2,SLC24A5 | c.*7945A>T (n.*7945A>T) c.569T>A (p.Ile190Lys) c.389T>A (p.Ile130Lys) n.329T>A c.590T>A (p.Ile197Lys) c.*8100A>T (n.*8100A>T) c.323T>A (p.Ile108Lys) c.230T>A (p.Ile77Lys) | COSMIC |
| 15 | g.48134963T>C | CA7545908 | MYEF2,SLC24A5 | c.*7945A>G (n.*7945A>G) c.569T>C (p.Ile190Thr) c.389T>C (p.Ile130Thr) n.329T>C c.590T>C (p.Ile197Thr) c.*8100A>G (n.*8100A>G) c.323T>C (p.Ile108Thr) c.230T>C (p.Ile77Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48134963T>G | CA392451072 | MYEF2,SLC24A5 | c.*7945A>C (n.*7945A>C) c.569T>G (p.Ile190Arg) c.389T>G (p.Ile130Arg) n.329T>G c.590T>G (p.Ile197Arg) c.*8100A>C (n.*8100A>C) c.323T>G (p.Ile108Arg) c.230T>G (p.Ile77Arg) | |
| 15 | g.48134963T= | CA2175374256 | MYEF2,SLC24A5 | c.*7945A= (n.*7945A=) c.569T= (p.Ile190=) c.389T= (p.Ile130=) n.329T= c.590T= (p.Ile197=) c.*8100A= (n.*8100A=) c.323T= (p.Ile108=) c.230T= (p.Ile77=) | |
| 15 | g.48134964A>C | CA490090539 | MYEF2,SLC24A5 | c.*7944T>G (n.*7944T>G) c.570A>C (p.Ile190=) c.390A>C (p.Ile130=) n.330A>C c.591A>C (p.Ile197=) c.*8099T>G (n.*8099T>G) c.324A>C (p.Ile108=) c.231A>C (p.Ile77=) | |
| 15 | g.48134964A>G | CA392451073 | MYEF2,SLC24A5 | c.*7944T>C (n.*7944T>C) c.570A>G (p.Ile190Met) c.390A>G (p.Ile130Met) n.330A>G c.591A>G (p.Ile197Met) c.*8099T>C (n.*8099T>C) c.324A>G (p.Ile108Met) c.231A>G (p.Ile77Met) | |
| 15 | g.48134964A>T | CA490090540 | MYEF2,SLC24A5 | c.*7944T>A (n.*7944T>A) c.570A>T (p.Ile190=) c.390A>T (p.Ile130=) n.330A>T c.591A>T (p.Ile197=) c.*8099T>A (n.*8099T>A) c.324A>T (p.Ile108=) c.231A>T (p.Ile77=) | |
| 15 | g.48134965_48134966insTAAT | CA10602371 | MYEF2,SLC24A5 | c.*7944_*7945insTAAT (n.*7944_*7945insTAAT) c.571_572insTAAT (p.Tyr191LeufsTer3) c.391_392insTAAT (p.Tyr131LeufsTer3) n.331_332insTAAT c.592_593insTAAT (p.Tyr198LeufsTer3) c.*8099_*8100insTAAT (n.*8099_*8100insTAAT) c.325_326insTAAT (p.Tyr109LeufsTer3) c.232_233insTAAT (p.Tyr78LeufsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48134965T>A | CA392451074 | MYEF2,SLC24A5 | c.*7943A>T (n.*7943A>T) c.571T>A (p.Tyr191Asn) c.391T>A (p.Tyr131Asn) n.331T>A c.592T>A (p.Tyr198Asn) c.*8098A>T (n.*8098A>T) c.325T>A (p.Tyr109Asn) c.232T>A (p.Tyr78Asn) | |
| 15 | g.48134965T>C | CA7545909 | MYEF2,SLC24A5 | c.*7943A>G (n.*7943A>G) c.571T>C (p.Tyr191His) c.391T>C (p.Tyr131His) n.331T>C c.592T>C (p.Tyr198His) c.*8098A>G (n.*8098A>G) c.325T>C (p.Tyr109His) c.232T>C (p.Tyr78His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48134965T>G | CA392451075 | MYEF2,SLC24A5 | c.*7943A>C (n.*7943A>C) c.571T>G (p.Tyr191Asp) c.391T>G (p.Tyr131Asp) n.331T>G c.592T>G (p.Tyr198Asp) c.*8098A>C (n.*8098A>C) c.325T>G (p.Tyr109Asp) c.232T>G (p.Tyr78Asp) | |
| 15 | g.48134965T= | CA2175374257 | MYEF2,SLC24A5 | c.*7943A= (n.*7943A=) c.571T= (p.Tyr191=) c.391T= (p.Tyr131=) n.331T= c.592T= (p.Tyr198=) c.*8098A= (n.*8098A=) c.325T= (p.Tyr109=) c.232T= (p.Tyr78=) | |
| 15 | g.48134966A>C | CA392451078 | MYEF2,SLC24A5 | c.*7942T>G (n.*7942T>G) c.572A>C (p.Tyr191Ser) c.392A>C (p.Tyr131Ser) n.332A>C c.593A>C (p.Tyr198Ser) c.*8097T>G (n.*8097T>G) c.326A>C (p.Tyr109Ser) c.233A>C (p.Tyr78Ser) | |
| 15 | g.48134966A>G | CA392451076 | MYEF2,SLC24A5 | c.*7942T>C (n.*7942T>C) c.572A>G (p.Tyr191Cys) c.392A>G (p.Tyr131Cys) n.332A>G c.593A>G (p.Tyr198Cys) c.*8097T>C (n.*8097T>C) c.326A>G (p.Tyr109Cys) c.233A>G (p.Tyr78Cys) | gnomAD v4 |
| 15 | g.48134966A>T | CA392451077 | MYEF2,SLC24A5 | c.*7942T>A (n.*7942T>A) c.572A>T (p.Tyr191Phe) c.392A>T (p.Tyr131Phe) n.332A>T c.593A>T (p.Tyr198Phe) c.*8097T>A (n.*8097T>A) c.326A>T (p.Tyr109Phe) c.233A>T (p.Tyr78Phe) | |
| 15 | g.48134967T>A | CA392451079 | MYEF2,SLC24A5 | c.*7941A>T (n.*7941A>T) c.573T>A (p.Tyr191Ter) c.393T>A (p.Tyr131Ter) n.333T>A c.594T>A (p.Tyr198Ter) c.*8096A>T (n.*8096A>T) c.327T>A (p.Tyr109Ter) c.234T>A (p.Tyr78Ter) | |
| 15 | g.48134967T>C | CA490090541 | MYEF2,SLC24A5 | c.*7941A>G (n.*7941A>G) c.573T>C (p.Tyr191=) c.393T>C (p.Tyr131=) n.333T>C c.594T>C (p.Tyr198=) c.*8096A>G (n.*8096A>G) c.327T>C (p.Tyr109=) c.234T>C (p.Tyr78=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48134967T>G | CA392451080 | MYEF2,SLC24A5 | c.*7941A>C (n.*7941A>C) c.573T>G (p.Tyr191Ter) c.393T>G (p.Tyr131Ter) n.333T>G c.594T>G (p.Tyr198Ter) c.*8096A>C (n.*8096A>C) c.327T>G (p.Tyr109Ter) c.234T>G (p.Tyr78Ter) | |
| 15 | g.48134967T= | CA2175374258 | MYEF2,SLC24A5 | c.*7941A= (n.*7941A=) c.573T= (p.Tyr191=) c.393T= (p.Tyr131=) n.333T= c.594T= (p.Tyr198=) c.*8096A= (n.*8096A=) c.327T= (p.Tyr109=) c.234T= (p.Tyr78=) | |
| 15 | g.48134968G>A | CA392451081 | MYEF2,SLC24A5 | c.*7940C>T (n.*7940C>T) c.574G>A (p.Asp192Asn) c.394G>A (p.Asp132Asn) n.334G>A c.595G>A (p.Asp199Asn) c.*8095C>T (n.*8095C>T) c.328G>A (p.Asp110Asn) c.235G>A (p.Asp79Asn) | dbSNP gnomAD v4 |
| 15 | g.48134968G>C | CA392451082 | MYEF2,SLC24A5 | c.*7940C>G (n.*7940C>G) c.574G>C (p.Asp192His) c.394G>C (p.Asp132His) n.334G>C c.595G>C (p.Asp199His) c.*8095C>G (n.*8095C>G) c.328G>C (p.Asp110His) c.235G>C (p.Asp79His) | |
| 15 | g.48134968G= | CA2175374259 | MYEF2,SLC24A5 | c.*7940C= (n.*7940C=) c.574G= (p.Asp192=) c.394G= (p.Asp132=) n.334G= c.595G= (p.Asp199=) c.*8095C= (n.*8095C=) c.328G= (p.Asp110=) c.235G= (p.Asp79=) | |
| 15 | g.48134968G>T | CA392451083 | MYEF2,SLC24A5 | c.*7940C>A (n.*7940C>A) c.574G>T (p.Asp192Tyr) c.394G>T (p.Asp132Tyr) n.334G>T c.595G>T (p.Asp199Tyr) c.*8095C>A (n.*8095C>A) c.328G>T (p.Asp110Tyr) c.235G>T (p.Asp79Tyr) | |
| 15 | g.48134969A>C | CA392451084 | MYEF2,SLC24A5 | c.*7939T>G (n.*7939T>G) c.575A>C (p.Asp192Ala) c.395A>C (p.Asp132Ala) n.335A>C c.596A>C (p.Asp199Ala) c.*8094T>G (n.*8094T>G) c.329A>C (p.Asp110Ala) c.236A>C (p.Asp79Ala) | |
| 15 | g.48134969A>G | CA392451085 | MYEF2,SLC24A5 | c.*7939T>C (n.*7939T>C) c.575A>G (p.Asp192Gly) c.395A>G (p.Asp132Gly) n.335A>G c.596A>G (p.Asp199Gly) c.*8094T>C (n.*8094T>C) c.329A>G (p.Asp110Gly) c.236A>G (p.Asp79Gly) | |
| 15 | g.48134969A>T | CA392451086 | MYEF2,SLC24A5 | c.*7939T>A (n.*7939T>A) c.575A>T (p.Asp192Val) c.395A>T (p.Asp132Val) n.335A>T c.596A>T (p.Asp199Val) c.*8094T>A (n.*8094T>A) c.329A>T (p.Asp110Val) c.236A>T (p.Asp79Val) | |
| 15 | g.48134970C>A | CA392451087 | MYEF2,SLC24A5 | c.*7938G>T (n.*7938G>T) c.576C>A (p.Asp192Glu) c.396C>A (p.Asp132Glu) n.336C>A c.597C>A (p.Asp199Glu) c.*8093G>T (n.*8093G>T) c.330C>A (p.Asp110Glu) c.237C>A (p.Asp79Glu) | gnomAD v4 |
| 15 | g.48134970C>G | CA392451088 | MYEF2,SLC24A5 | c.*7938G>C (n.*7938G>C) c.576C>G (p.Asp192Glu) c.396C>G (p.Asp132Glu) n.336C>G c.597C>G (p.Asp199Glu) c.*8093G>C (n.*8093G>C) c.330C>G (p.Asp110Glu) c.237C>G (p.Asp79Glu) | |
| 15 | g.48134970C>T | CA490090542 | MYEF2,SLC24A5 | c.*7938G>A (n.*7938G>A) c.576C>T (p.Asp192=) c.396C>T (p.Asp132=) n.336C>T c.597C>T (p.Asp199=) c.*8093G>A (n.*8093G>A) c.330C>T (p.Asp110=) c.237C>T (p.Asp79=) | |
| 15 | g.48134971A>C | CA392451091 | MYEF2,SLC24A5 | c.*7937T>G (n.*7937T>G) c.577A>C (p.Asn193His) c.397A>C (p.Asn133His) n.337A>C c.598A>C (p.Asn200His) c.*8092T>G (n.*8092T>G) c.331A>C (p.Asn111His) c.238A>C (p.Asn80His) | |
| 15 | g.48134971A>G | CA392451089 | MYEF2,SLC24A5 | c.*7937T>C (n.*7937T>C) c.577A>G (p.Asn193Asp) c.397A>G (p.Asn133Asp) n.337A>G c.598A>G (p.Asn200Asp) c.*8092T>C (n.*8092T>C) c.331A>G (p.Asn111Asp) c.238A>G (p.Asn80Asp) | |
| 15 | g.48134971A>T | CA392451090 | MYEF2,SLC24A5 | c.*7937T>A (n.*7937T>A) c.577A>T (p.Asn193Tyr) c.397A>T (p.Asn133Tyr) n.337A>T c.598A>T (p.Asn200Tyr) c.*8092T>A (n.*8092T>A) c.331A>T (p.Asn111Tyr) c.238A>T (p.Asn80Tyr) | |
| 15 | g.48134972A>C | CA392451092 | MYEF2,SLC24A5 | c.*7936T>G (n.*7936T>G) c.578A>C (p.Asn193Thr) c.398A>C (p.Asn133Thr) n.338A>C c.599A>C (p.Asn200Thr) c.*8091T>G (n.*8091T>G) c.332A>C (p.Asn111Thr) c.239A>C (p.Asn80Thr) | |
| 15 | g.48134972A>G | CA392451093 | MYEF2,SLC24A5 | c.*7936T>C (n.*7936T>C) c.578A>G (p.Asn193Ser) c.398A>G (p.Asn133Ser) n.338A>G c.599A>G (p.Asn200Ser) c.*8091T>C (n.*8091T>C) c.332A>G (p.Asn111Ser) c.239A>G (p.Asn80Ser) | |
| 15 | g.48134972A>T | CA392451094 | MYEF2,SLC24A5 | c.*7936T>A (n.*7936T>A) c.578A>T (p.Asn193Ile) c.398A>T (p.Asn133Ile) n.338A>T c.599A>T (p.Asn200Ile) c.*8091T>A (n.*8091T>A) c.332A>T (p.Asn111Ile) c.239A>T (p.Asn80Ile) | |
| 15 | g.48134973C>A | CA392451095 | MYEF2,SLC24A5 | c.*7935G>T (n.*7935G>T) c.579C>A (p.Asn193Lys) c.399C>A (p.Asn133Lys) n.339C>A c.600C>A (p.Asn200Lys) c.*8090G>T (n.*8090G>T) c.333C>A (p.Asn111Lys) c.240C>A (p.Asn80Lys) | |
| 15 | g.48134973C= | CA2175374260 | MYEF2,SLC24A5 | c.*7935G= (n.*7935G=) c.579C= (p.Asn193=) c.399C= (p.Asn133=) n.339C= c.600C= (p.Asn200=) c.*8090G= (n.*8090G=) c.333C= (p.Asn111=) c.240C= (p.Asn80=) | |
| 15 | g.48134973C>G | CA392451096 | MYEF2,SLC24A5 | c.*7935G>C (n.*7935G>C) c.579C>G (p.Asn193Lys) c.399C>G (p.Asn133Lys) n.339C>G c.600C>G (p.Asn200Lys) c.*8090G>C (n.*8090G>C) c.333C>G (p.Asn111Lys) c.240C>G (p.Asn80Lys) | |
| 15 | g.48134973C>T | CA7545910 | MYEF2,SLC24A5 | c.*7935G>A (n.*7935G>A) c.579C>T (p.Asn193=) c.399C>T (p.Asn133=) n.339C>T c.600C>T (p.Asn200=) c.*8090G>A (n.*8090G>A) c.333C>T (p.Asn111=) c.240C>T (p.Asn80=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48134974C>A | CA392451097 | MYEF2,SLC24A5 | c.*7934G>T (n.*7934G>T) c.580C>A (p.Gln194Lys) c.400C>A (p.Gln134Lys) n.340C>A c.601C>A (p.Gln201Lys) c.*8089G>T (n.*8089G>T) c.334C>A (p.Gln112Lys) c.241C>A (p.Gln81Lys) | dbSNP gnomAD v4 |
| 15 | g.48134974C= | CA2175374261 | MYEF2,SLC24A5 | c.*7934G= (n.*7934G=) c.580C= (p.Gln194=) c.400C= (p.Gln134=) n.340C= c.601C= (p.Gln201=) c.*8089G= (n.*8089G=) c.334C= (p.Gln112=) c.241C= (p.Gln81=) | |
| 15 | g.48134974C>G | CA392451098 | MYEF2,SLC24A5 | c.*7934G>C (n.*7934G>C) c.580C>G (p.Gln194Glu) c.400C>G (p.Gln134Glu) n.340C>G c.601C>G (p.Gln201Glu) c.*8089G>C (n.*8089G>C) c.334C>G (p.Gln112Glu) c.241C>G (p.Gln81Glu) | gnomAD v4 |
| 15 | g.48134974C>T | CA392451099 | MYEF2,SLC24A5 | c.*7934G>A (n.*7934G>A) c.580C>T (p.Gln194Ter) c.400C>T (p.Gln134Ter) n.340C>T c.601C>T (p.Gln201Ter) c.*8089G>A (n.*8089G>A) c.334C>T (p.Gln112Ter) c.241C>T (p.Gln81Ter) | |
| 15 | g.48134975A>C | CA392451100 | MYEF2,SLC24A5 | c.*7933T>G (n.*7933T>G) c.581A>C (p.Gln194Pro) c.401A>C (p.Gln134Pro) n.341A>C c.602A>C (p.Gln201Pro) c.*8088T>G (n.*8088T>G) c.335A>C (p.Gln112Pro) c.242A>C (p.Gln81Pro) | |
| 15 | g.48134975A>G | CA392451101 | MYEF2,SLC24A5 | c.*7933T>C (n.*7933T>C) c.581A>G (p.Gln194Arg) c.401A>G (p.Gln134Arg) n.341A>G c.602A>G (p.Gln201Arg) c.*8088T>C (n.*8088T>C) c.335A>G (p.Gln112Arg) c.242A>G (p.Gln81Arg) | gnomAD v4 |
| 15 | g.48134975A>T | CA392451102 | MYEF2,SLC24A5 | c.*7933T>A (n.*7933T>A) c.581A>T (p.Gln194Leu) c.401A>T (p.Gln134Leu) n.341A>T c.602A>T (p.Gln201Leu) c.*8088T>A (n.*8088T>A) c.335A>T (p.Gln112Leu) c.242A>T (p.Gln81Leu) | |
| 15 | g.48134975_48134976del | CA490090543 | MYEF2,SLC24A5 | c.*7932_*7933del (n.*7932_*7933del) c.581_582del (p.Gln194ArgfsTer5) c.401_402del (p.Gln134ArgfsTer5) n.341_342del c.602_603del (p.Gln201ArgfsTer5) c.*8087_*8088del (n.*8087_*8088del) c.335_336del (p.Gln112ArgfsTer5) c.242_243del (p.Gln81ArgfsTer5) | |
| 15 | g.48134976A>C | CA392451104 | MYEF2,SLC24A5 | c.*7932T>G (n.*7932T>G) c.582A>C (p.Gln194His) c.402A>C (p.Gln134His) n.342A>C c.603A>C (p.Gln201His) c.*8087T>G (n.*8087T>G) c.336A>C (p.Gln112His) c.243A>C (p.Gln81His) | |
| 15 | g.48134976A>G | CA490090544 | MYEF2,SLC24A5 | c.*7932T>C (n.*7932T>C) c.582A>G (p.Gln194=) c.402A>G (p.Gln134=) n.342A>G c.603A>G (p.Gln201=) c.*8087T>C (n.*8087T>C) c.336A>G (p.Gln112=) c.243A>G (p.Gln81=) | |
| 15 | g.48134976A>T | CA392451103 | MYEF2,SLC24A5 | c.*7932T>A (n.*7932T>A) c.582A>T (p.Gln194His) c.402A>T (p.Gln134His) n.342A>T c.603A>T (p.Gln201His) c.*8087T>A (n.*8087T>A) c.336A>T (p.Gln112His) c.243A>T (p.Gln81His) | |
| 15 | g.48134977G>A | CA392451105 | MYEF2,SLC24A5 | c.*7931C>T (n.*7931C>T) c.583G>A (p.Val195Ile) c.403G>A (p.Val135Ile) n.343G>A c.604G>A (p.Val202Ile) c.*8086C>T (n.*8086C>T) c.337G>A (p.Val113Ile) c.244G>A (p.Val82Ile) | ClinVar dbSNP |
| 15 | g.48134977G>C | CA392451107 | MYEF2,SLC24A5 | c.*7931C>G (n.*7931C>G) c.583G>C (p.Val195Leu) c.403G>C (p.Val135Leu) n.343G>C c.604G>C (p.Val202Leu) c.*8086C>G (n.*8086C>G) c.337G>C (p.Val113Leu) c.244G>C (p.Val82Leu) | |
| 15 | g.48134977G>T | CA392451106 | MYEF2,SLC24A5 | c.*7931C>A (n.*7931C>A) c.583G>T (p.Val195Phe) c.403G>T (p.Val135Phe) n.343G>T c.604G>T (p.Val202Phe) c.*8086C>A (n.*8086C>A) c.337G>T (p.Val113Phe) c.244G>T (p.Val82Phe) | gnomAD v4 |
| 15 | g.48134977_48134978insCGCTGATTTC | CA490090545 | MYEF2,SLC24A5 | c.*7930_*7931insGAAATCAGCG (n.*7930_*7931insGAAATCAGCG) c.583_584insCGCTGATTTC (p.Val195AlafsTer8) c.403_404insCGCTGATTTC (p.Val135AlafsTer8) n.343_344insCGCTGATTTC c.604_605insCGCTGATTTC (p.Val202AlafsTer8) c.*8085_*8086insGAAATCAGCG (n.*8085_*8086insGAAATCAGCG) c.337_338insCGCTGATTTC (p.Val113AlafsTer8) c.244_245insCGCTGATTTC (p.Val82AlafsTer8) | |
| 15 | g.48134978T>A | CA392451108 | MYEF2,SLC24A5 | c.*7930A>T (n.*7930A>T) c.584T>A (p.Val195Asp) c.404T>A (p.Val135Asp) n.344T>A c.605T>A (p.Val202Asp) c.*8085A>T (n.*8085A>T) c.338T>A (p.Val113Asp) c.245T>A (p.Val82Asp) | |
| 15 | g.48134978T>C | CA392451109 | MYEF2,SLC24A5 | c.*7930A>G (n.*7930A>G) c.584T>C (p.Val195Ala) c.404T>C (p.Val135Ala) n.344T>C c.605T>C (p.Val202Ala) c.*8085A>G (n.*8085A>G) c.338T>C (p.Val113Ala) c.245T>C (p.Val82Ala) | gnomAD v4 |
| 15 | g.48134978T>G | CA392451110 | MYEF2,SLC24A5 | c.*7930A>C (n.*7930A>C) c.584T>G (p.Val195Gly) c.404T>G (p.Val135Gly) n.344T>G c.605T>G (p.Val202Gly) c.*8085A>C (n.*8085A>C) c.338T>G (p.Val113Gly) c.245T>G (p.Val82Gly) | |
| 15 | g.48134979T>A | CA490090546 | MYEF2,SLC24A5 | c.*7929A>T (n.*7929A>T) c.585T>A (p.Val195=) c.405T>A (p.Val135=) n.345T>A c.606T>A (p.Val202=) c.*8084A>T (n.*8084A>T) c.339T>A (p.Val113=) c.246T>A (p.Val82=) | |
| 15 | g.48134979T>C | CA490090547 | MYEF2,SLC24A5 | c.*7929A>G (n.*7929A>G) c.585T>C (p.Val195=) c.405T>C (p.Val135=) n.345T>C c.606T>C (p.Val202=) c.*8084A>G (n.*8084A>G) c.339T>C (p.Val113=) c.246T>C (p.Val82=) | |
| 15 | g.48134979T>G | CA490090548 | MYEF2,SLC24A5 | c.*7929A>C (n.*7929A>C) c.585T>G (p.Val195=) c.405T>G (p.Val135=) n.345T>G c.606T>G (p.Val202=) c.*8084A>C (n.*8084A>C) c.339T>G (p.Val113=) c.246T>G (p.Val82=) | |
| 15 | g.48134980T>A | CA392451111 | MYEF2,SLC24A5 | c.*7928A>T (n.*7928A>T) c.586T>A (p.Tyr196Asn) c.406T>A (p.Tyr136Asn) n.346T>A c.607T>A (p.Tyr203Asn) c.*8083A>T (n.*8083A>T) c.340T>A (p.Tyr114Asn) c.247T>A (p.Tyr83Asn) | |
| 15 | g.48134980T>C | CA392451112 | MYEF2,SLC24A5 | c.*7928A>G (n.*7928A>G) c.586T>C (p.Tyr196His) c.406T>C (p.Tyr136His) n.346T>C c.607T>C (p.Tyr203His) c.*8083A>G (n.*8083A>G) c.340T>C (p.Tyr114His) c.247T>C (p.Tyr83His) | |
| 15 | g.48134980T>G | CA392451113 | MYEF2,SLC24A5 | c.*7928A>C (n.*7928A>C) c.586T>G (p.Tyr196Asp) c.406T>G (p.Tyr136Asp) n.346T>G c.607T>G (p.Tyr203Asp) c.*8083A>C (n.*8083A>C) c.340T>G (p.Tyr114Asp) c.247T>G (p.Tyr83Asp) | |
| 15 | g.48134981A>C | CA392451114 | MYEF2,SLC24A5 | c.*7927T>G (n.*7927T>G) c.587A>C (p.Tyr196Ser) c.407A>C (p.Tyr136Ser) n.347A>C c.608A>C (p.Tyr203Ser) c.*8082T>G (n.*8082T>G) c.341A>C (p.Tyr114Ser) c.248A>C (p.Tyr83Ser) | |
| 15 | g.48134981A>G | CA392451115 | MYEF2,SLC24A5 | c.*7927T>C (n.*7927T>C) c.587A>G (p.Tyr196Cys) c.407A>G (p.Tyr136Cys) n.347A>G c.608A>G (p.Tyr203Cys) c.*8082T>C (n.*8082T>C) c.341A>G (p.Tyr114Cys) c.248A>G (p.Tyr83Cys) | |
| 15 | g.48134981A>T | CA392451116 | MYEF2,SLC24A5 | c.*7927T>A (n.*7927T>A) c.587A>T (p.Tyr196Phe) c.407A>T (p.Tyr136Phe) n.347A>T c.608A>T (p.Tyr203Phe) c.*8082T>A (n.*8082T>A) c.341A>T (p.Tyr114Phe) c.248A>T (p.Tyr83Phe) | |
| 15 | g.48134981_48134982insG | CA490090549 | MYEF2,SLC24A5 | c.*7926_*7927insC (n.*7926_*7927insC) c.587_588insG (p.Tyr196Ter) c.407_408insG (p.Tyr136Ter) n.347_348insG c.608_609insG (p.Tyr203Ter) c.*8081_*8082insC (n.*8081_*8082insC) c.341_342insG (p.Tyr114Ter) c.248_249insG (p.Tyr83Ter) | |
| 15 | g.48134982C>A | CA392451117 | MYEF2,SLC24A5 | c.*7926G>T (n.*7926G>T) c.588C>A (p.Tyr196Ter) c.408C>A (p.Tyr136Ter) n.348C>A c.609C>A (p.Tyr203Ter) c.*8081G>T (n.*8081G>T) c.342C>A (p.Tyr114Ter) c.249C>A (p.Tyr83Ter) | |
| 15 | g.48134982C>G | CA392451118 | MYEF2,SLC24A5 | c.*7926G>C (n.*7926G>C) c.588C>G (p.Tyr196Ter) c.408C>G (p.Tyr136Ter) n.348C>G c.609C>G (p.Tyr203Ter) c.*8081G>C (n.*8081G>C) c.342C>G (p.Tyr114Ter) c.249C>G (p.Tyr83Ter) | |
| 15 | g.48134982C>T | CA490090550 | MYEF2,SLC24A5 | c.*7926G>A (n.*7926G>A) c.588C>T (p.Tyr196=) c.408C>T (p.Tyr136=) n.348C>T c.609C>T (p.Tyr203=) c.*8081G>A (n.*8081G>A) c.342C>T (p.Tyr114=) c.249C>T (p.Tyr83=) | gnomAD v4 |
| 15 | g.48134983T>A | CA392451120 | MYEF2,SLC24A5 | c.*7925A>T (n.*7925A>T) c.589T>A (p.Trp197Arg) c.409T>A (p.Trp137Arg) n.349T>A c.610T>A (p.Trp204Arg) c.*8080A>T (n.*8080A>T) c.343T>A (p.Trp115Arg) c.250T>A (p.Trp84Arg) | |
| 15 | g.48134983T>C | CA269989581 | MYEF2,SLC24A5 | c.*7925A>G (n.*7925A>G) c.589T>C (p.Trp197Arg) c.409T>C (p.Trp137Arg) n.349T>C c.610T>C (p.Trp204Arg) c.*8080A>G (n.*8080A>G) c.343T>C (p.Trp115Arg) c.250T>C (p.Trp84Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48134983T>G | CA392451119 | MYEF2,SLC24A5 | c.*7925A>C (n.*7925A>C) c.589T>G (p.Trp197Gly) c.409T>G (p.Trp137Gly) n.349T>G c.610T>G (p.Trp204Gly) c.*8080A>C (n.*8080A>C) c.343T>G (p.Trp115Gly) c.250T>G (p.Trp84Gly) | |
| 15 | g.48134983T= | CA2175374262 | MYEF2,SLC24A5 | c.*7925A= (n.*7925A=) c.589T= (p.Trp197=) c.409T= (p.Trp137=) n.349T= c.610T= (p.Trp204=) c.*8080A= (n.*8080A=) c.343T= (p.Trp115=) c.250T= (p.Trp84=) | |
| 15 | g.48134984G>A | CA392451121 | MYEF2,SLC24A5 | c.*7924C>T (n.*7924C>T) c.590G>A (p.Trp197Ter) c.410G>A (p.Trp137Ter) n.350G>A c.611G>A (p.Trp204Ter) c.*8079C>T (n.*8079C>T) c.344G>A (p.Trp115Ter) c.251G>A (p.Trp84Ter) | gnomAD v4 |
| 15 | g.48134984G>C | CA392451122 | MYEF2,SLC24A5 | c.*7924C>G (n.*7924C>G) c.590G>C (p.Trp197Ser) c.410G>C (p.Trp137Ser) n.350G>C c.611G>C (p.Trp204Ser) c.*8079C>G (n.*8079C>G) c.344G>C (p.Trp115Ser) c.251G>C (p.Trp84Ser) | |
| 15 | g.48134984G>T | CA392451123 | MYEF2,SLC24A5 | c.*7924C>A (n.*7924C>A) c.590G>T (p.Trp197Leu) c.410G>T (p.Trp137Leu) n.350G>T c.611G>T (p.Trp204Leu) c.*8079C>A (n.*8079C>A) c.344G>T (p.Trp115Leu) c.251G>T (p.Trp84Leu) | |
| 15 | g.48134985dup | CA2695220132 | MYEF2,SLC24A5 | c.*7924dup (n.*7924dup) c.590+1dup c.410+1dup n.350+1dup c.611+1dup c.*8079dup (n.*8079dup) c.344+1dup c.251+1dup | |
| 15 | g.48134985G>A | CA392451124 | MYEF2,SLC24A5 | c.*7923C>T (n.*7923C>T) c.590+1G>A (n.590+1G>A) c.410+1G>A (n.410+1G>A) n.350+1G>A c.611+1G>A (n.611+1G>A) c.*8078C>T (n.*8078C>T) c.344+1G>A (n.344+1G>A) c.251+1G>A (n.251+1G>A) | |
| 15 | g.48134985G>C | CA392451125 | MYEF2,SLC24A5 | c.*7923C>G (n.*7923C>G) c.590+1G>C (n.590+1G>C) c.410+1G>C (n.410+1G>C) n.350+1G>C c.611+1G>C (n.611+1G>C) c.*8078C>G (n.*8078C>G) c.344+1G>C (n.344+1G>C) c.251+1G>C (n.251+1G>C) | |
| 15 | g.48134985G>T | CA392451126 | MYEF2,SLC24A5 | c.*7923C>A (n.*7923C>A) c.590+1G>T (n.590+1G>T) c.410+1G>T (n.410+1G>T) n.350+1G>T c.611+1G>T (n.611+1G>T) c.*8078C>A (n.*8078C>A) c.344+1G>T (n.344+1G>T) c.251+1G>T (n.251+1G>T) | gnomAD v4 |
| 15 | g.48134985_48134986insATTCTAGCCATATTTGCGGCGA | CA490090551 | MYEF2,SLC24A5 | c.*7922_*7923insTCGCCGCAAATATGGCTAGAAT (n.*7922_*7923insTCGCCGCAAATATGGCTAGAAT) c.590+1_590+2insATTCTAGCCATATTTGCGGCGA (n.590+1_590+2insATTCTAGCCATATTTGCGGCGA) c.410+1_410+2insATTCTAGCCATATTTGCGGCGA (n.410+1_410+2insATTCTAGCCATATTTGCGGCGA) n.350+1_350+2insATTCTAGCCATATTTGCGGCGA c.611+1_611+2insATTCTAGCCATATTTGCGGCGA (n.611+1_611+2insATTCTAGCCATATTTGCGGCGA) c.*8077_*8078insTCGCCGCAAATATGGCTAGAAT (n.*8077_*8078insTCGCCGCAAATATGGCTAGAAT) c.344+1_344+2insATTCTAGCCATATTTGCGGCGA (n.344+1_344+2insATTCTAGCCATATTTGCGGCGA) c.251+1_251+2insATTCTAGCCATATTTGCGGCGA (n.251+1_251+2insATTCTAGCCATATTTGCGGCGA) | |
| 15 | g.48134986T>A | CA392451127 | MYEF2,SLC24A5 | c.*7922A>T (n.*7922A>T) c.590+2T>A (n.590+2T>A) c.410+2T>A (n.410+2T>A) n.350+2T>A c.611+2T>A (n.611+2T>A) c.*8077A>T (n.*8077A>T) c.344+2T>A (n.344+2T>A) c.251+2T>A (n.251+2T>A) | |
| 15 | g.48134986T>C | CA392451128 | MYEF2,SLC24A5 | c.*7922A>G (n.*7922A>G) c.590+2T>C (n.590+2T>C) c.410+2T>C (n.410+2T>C) n.350+2T>C c.611+2T>C (n.611+2T>C) c.*8077A>G (n.*8077A>G) c.344+2T>C (n.344+2T>C) c.251+2T>C (n.251+2T>C) | dbSNP |
| 15 | g.48134986T>G | CA392451129 | MYEF2,SLC24A5 | c.*7922A>C (n.*7922A>C) c.590+2T>G (n.590+2T>G) c.410+2T>G (n.410+2T>G) n.350+2T>G c.611+2T>G (n.611+2T>G) c.*8077A>C (n.*8077A>C) c.344+2T>G (n.344+2T>G) c.251+2T>G (n.251+2T>G) | |
| 15 | g.48134986T= | CA2175374263 | MYEF2,SLC24A5 | c.*7922A= (n.*7922A=) c.590+2T= (n.590+2T=) c.410+2T= (n.410+2T=) n.350+2T= c.611+2T= (n.611+2T=) c.*8077A= (n.*8077A=) c.344+2T= (n.344+2T=) c.251+2T= (n.251+2T=) | |
| 15 | g.48134988del | CA2575714867 | MYEF2,SLC24A5 | c.*7921del (n.*7921del) c.590+4del (n.590+4del) c.410+4del (n.410+4del) n.350+4del c.611+4del (n.611+4del) c.*8076del (n.*8076del) c.344+4del (n.344+4del) c.251+4del (n.251+4del) | |
| 15 | g.48134988A= | CA2175374264 | MYEF2,SLC24A5 | c.*7920T= (n.*7920T=) c.590+4A= (n.590+4A=) c.410+4A= (n.410+4A=) n.350+4A= c.611+4A= (n.611+4A=) c.*8075T= (n.*8075T=) c.344+4A= (n.344+4A=) c.251+4A= (n.251+4A=) | |
| 15 | g.48134988A>G | CA7545911 | MYEF2,SLC24A5 | c.*7920T>C (n.*7920T>C) c.590+4A>G (n.590+4A>G) c.410+4A>G (n.410+4A>G) n.350+4A>G c.611+4A>G (n.611+4A>G) c.*8075T>C (n.*8075T>C) c.344+4A>G (n.344+4A>G) c.251+4A>G (n.251+4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48134988_48134989insTGCTAGTTAGCATATTTGCGCAAAGGATAGTGAAGAAATACAAGGCAAGCTAGTTAAG | CA2551420033 | MYEF2,SLC24A5 | c.*7919_*7920insCTTAACTAGCTTGCCTTGTATTTCTTCACTATCCTTTGCGCAAATATGCTAACTAGCA (n.*7919_*7920insCTTAACTAGCTTGCCTTGTATTTCTTCACTATCCTTTGCGCAAATATGCTAACTAGCA) c.590+4_590+5insTGCTAGTTAGCATATTTGCGCAAAGGATAGTGAAGAAATACAAGGCAAGCTAGTTAAG (n.590+4_590+5insTGCTAGTTAGCATATTTGCGCAAAGGATAGTGAAGAAATACAAGGCAAGCTAGTTAAG) c.410+4_410+5insTGCTAGTTAGCATATTTGCGCAAAGGATAGTGAAGAAATACAAGGCAAGCTAGTTAAG (n.410+4_410+5insTGCTAGTTAGCATATTTGCGCAAAGGATAGTGAAGAAATACAAGGCAAGCTAGTTAAG) n.350+4_350+5insTGCTAGTTAGCATATTTGCGCAAAGGATAGTGAAGAAATACAAGGCAAGCTAGTTAAG c.611+4_611+5insTGCTAGTTAGCATATTTGCGCAAAGGATAGTGAAGAAATACAAGGCAAGCTAGTTAAG (n.611+4_611+5insTGCTAGTTAGCATATTTGCGCAAAGGATAGTGAAGAAATACAAGGCAAGCTAGTTAAG) c.*8074_*8075insCTTAACTAGCTTGCCTTGTATTTCTTCACTATCCTTTGCGCAAATATGCTAACTAGCA (n.*8074_*8075insCTTAACTAGCTTGCCTTGTATTTCTTCACTATCCTTTGCGCAAATATGCTAACTAGCA) c.344+4_344+5insTGCTAGTTAGCATATTTGCGCAAAGGATAGTGAAGAAATACAAGGCAAGCTAGTTAAG (n.344+4_344+5insTGCTAGTTAGCATATTTGCGCAAAGGATAGTGAAGAAATACAAGGCAAGCTAGTTAAG) c.251+4_251+5insTGCTAGTTAGCATATTTGCGCAAAGGATAGTGAAGAAATACAAGGCAAGCTAGTTAAG (n.251+4_251+5insTGCTAGTTAGCATATTTGCGCAAAGGATAGTGAAGAAATACAAGGCAAGCTAGTTAAG) | |
| 15 | g.48134989G>A | CA2575714868 | MYEF2,SLC24A5 | c.*7919C>T (n.*7919C>T) c.590+5G>A (n.590+5G>A) c.410+5G>A (n.410+5G>A) n.350+5G>A c.611+5G>A (n.611+5G>A) c.*8074C>T (n.*8074C>T) c.344+5G>A (n.344+5G>A) c.251+5G>A (n.251+5G>A) | |
| 15 | g.48134990C>A | CA2628304835 | MYEF2,SLC24A5 | c.*7918G>T (n.*7918G>T) c.590+6C>A (n.590+6C>A) c.410+6C>A (n.410+6C>A) n.350+6C>A c.611+6C>A (n.611+6C>A) c.*8073G>T (n.*8073G>T) c.344+6C>A (n.344+6C>A) c.251+6C>A (n.251+6C>A) | gnomAD v4 |
| 15 | g.48134991T>C | CA2628304836 | MYEF2,SLC24A5 | c.*7917A>G (n.*7917A>G) c.590+7T>C (n.590+7T>C) c.410+7T>C (n.410+7T>C) n.350+7T>C c.611+7T>C (n.611+7T>C) c.*8072A>G (n.*8072A>G) c.344+7T>C (n.344+7T>C) c.251+7T>C (n.251+7T>C) | gnomAD v4 |
| 15 | g.48134993G>A | CA2628304837 | MYEF2,SLC24A5 | c.*7915C>T (n.*7915C>T) c.590+9G>A (n.590+9G>A) c.410+9G>A (n.410+9G>A) n.350+9G>A c.611+9G>A (n.611+9G>A) c.*8070C>T (n.*8070C>T) c.344+9G>A (n.344+9G>A) c.251+9G>A (n.251+9G>A) | gnomAD v4 |
| 15 | g.48134994A>G | CA2628304838 | MYEF2,SLC24A5 | c.*7914T>C (n.*7914T>C) c.590+10A>G (n.590+10A>G) c.410+10A>G (n.410+10A>G) n.350+10A>G c.611+10A>G (n.611+10A>G) c.*8069T>C (n.*8069T>C) c.344+10A>G (n.344+10A>G) c.251+10A>G (n.251+10A>G) | gnomAD v4 |
| 15 | g.48134995A>G | CA2628304839 | MYEF2,SLC24A5 | c.*7913T>C (n.*7913T>C) c.590+11A>G (n.590+11A>G) c.410+11A>G (n.410+11A>G) n.350+11A>G c.611+11A>G (n.611+11A>G) c.*8068T>C (n.*8068T>C) c.344+11A>G (n.344+11A>G) c.251+11A>G (n.251+11A>G) | gnomAD v4 |
| 15 | g.48134998T>G | CA617942710 | MYEF2,SLC24A5 | c.*7910A>C (n.*7910A>C) c.590+14T>G (n.590+14T>G) c.410+14T>G (n.410+14T>G) n.350+14T>G c.611+14T>G (n.611+14T>G) c.*8065A>C (n.*8065A>C) c.344+14T>G (n.344+14T>G) c.251+14T>G (n.251+14T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48134998T= | CA2175374265 | MYEF2,SLC24A5 | c.*7910A= (n.*7910A=) c.590+14T= (n.590+14T=) c.410+14T= (n.410+14T=) n.350+14T= c.611+14T= (n.611+14T=) c.*8065A= (n.*8065A=) c.344+14T= (n.344+14T=) c.251+14T= (n.251+14T=) | |
| 15 | g.48135003C>A | CA7545912 | MYEF2,SLC24A5 | c.*7905G>T (n.*7905G>T) c.590+19C>A (n.590+19C>A) c.410+19C>A (n.410+19C>A) n.350+19C>A c.611+19C>A (n.611+19C>A) c.*8060G>T (n.*8060G>T) c.344+19C>A (n.344+19C>A) c.251+19C>A (n.251+19C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48135003C= | CA2175374266 | MYEF2,SLC24A5 | c.*7905G= (n.*7905G=) c.590+19C= (n.590+19C=) c.410+19C= (n.410+19C=) n.350+19C= c.611+19C= (n.611+19C=) c.*8060G= (n.*8060G=) c.344+19C= (n.344+19C=) c.251+19C= (n.251+19C=) | |
| 15 | g.48135003C>G | CA2175374267 | MYEF2,SLC24A5 | c.*7905G>C (n.*7905G>C) c.590+19C>G (n.590+19C>G) c.410+19C>G (n.410+19C>G) n.350+19C>G c.611+19C>G (n.611+19C>G) c.*8060G>C (n.*8060G>C) c.344+19C>G (n.344+19C>G) c.251+19C>G (n.251+19C>G) | dbSNP |
| 15 | g.48135003C>T | CA2628304840 | MYEF2,SLC24A5 | c.*7905G>A (n.*7905G>A) c.590+19C>T (n.590+19C>T) c.410+19C>T (n.410+19C>T) n.350+19C>T c.611+19C>T (n.611+19C>T) c.*8060G>A (n.*8060G>A) c.344+19C>T (n.344+19C>T) c.251+19C>T (n.251+19C>T) | gnomAD v4 |
| 15 | g.48135004T= | CA2175374268 | MYEF2,SLC24A5 | c.*7904A= (n.*7904A=) c.590+20T= (n.590+20T=) c.410+20T= (n.410+20T=) n.350+20T= c.611+20T= (n.611+20T=) c.*8059A= (n.*8059A=) c.344+20T= (n.344+20T=) c.251+20T= (n.251+20T=) | |
| 15 | g.48135004_48135005insGTACGGA | CA2175374269 | MYEF2,SLC24A5 | c.*7903_*7904insTCCGTAC (n.*7903_*7904insTCCGTAC) c.590+20_590+21insGTACGGA (n.590+20_590+21insGTACGGA) c.410+20_410+21insGTACGGA (n.410+20_410+21insGTACGGA) n.350+20_350+21insGTACGGA c.611+20_611+21insGTACGGA (n.611+20_611+21insGTACGGA) c.*8058_*8059insTCCGTAC (n.*8058_*8059insTCCGTAC) c.344+20_344+21insGTACGGA (n.344+20_344+21insGTACGGA) c.251+20_251+21insGTACGGA (n.251+20_251+21insGTACGGA) | dbSNP |
| 15 | g.48135006A= | CA2175374270 | MYEF2,SLC24A5 | c.*7902T= (n.*7902T=) c.590+22A= (n.590+22A=) c.410+22A= (n.410+22A=) n.350+22A= c.611+22A= (n.611+22A=) c.*8057T= (n.*8057T=) c.344+22A= (n.344+22A=) c.251+22A= (n.251+22A=) | |
| 15 | g.48135006A>C | CA2175374271 | MYEF2,SLC24A5 | c.*7902T>G (n.*7902T>G) c.590+22A>C (n.590+22A>C) c.410+22A>C (n.410+22A>C) n.350+22A>C c.611+22A>C (n.611+22A>C) c.*8057T>G (n.*8057T>G) c.344+22A>C (n.344+22A>C) c.251+22A>C (n.251+22A>C) | dbSNP |
| 15 | g.48135007T>A | CA2575714869 | MYEF2,SLC24A5 | c.*7901A>T (n.*7901A>T) c.590+23T>A (n.590+23T>A) c.410+23T>A (n.410+23T>A) n.350+23T>A c.611+23T>A (n.611+23T>A) c.*8056A>T (n.*8056A>T) c.344+23T>A (n.344+23T>A) c.251+23T>A (n.251+23T>A) | gnomAD v4 |
| 15 | g.48135007T>C | CA7545913 | MYEF2,SLC24A5 | c.*7901A>G (n.*7901A>G) c.590+23T>C (n.590+23T>C) c.410+23T>C (n.410+23T>C) n.350+23T>C c.611+23T>C (n.611+23T>C) c.*8056A>G (n.*8056A>G) c.344+23T>C (n.344+23T>C) c.251+23T>C (n.251+23T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48135007T= | CA2175374272 | MYEF2,SLC24A5 | c.*7901A= (n.*7901A=) c.590+23T= (n.590+23T=) c.410+23T= (n.410+23T=) n.350+23T= c.611+23T= (n.611+23T=) c.*8056A= (n.*8056A=) c.344+23T= (n.344+23T=) c.251+23T= (n.251+23T=) | |
| 15 | g.48135008G>A | CA2575714870 | MYEF2,SLC24A5 | c.*7900C>T (n.*7900C>T) c.590+24G>A (n.590+24G>A) c.410+24G>A (n.410+24G>A) n.350+24G>A c.611+24G>A (n.611+24G>A) c.*8055C>T (n.*8055C>T) c.344+24G>A (n.344+24G>A) c.251+24G>A (n.251+24G>A) | gnomAD v4 |
| 15 | g.48135008G>T | CA2628304841 | MYEF2,SLC24A5 | c.*7900C>A (n.*7900C>A) c.590+24G>T (n.590+24G>T) c.410+24G>T (n.410+24G>T) n.350+24G>T c.611+24G>T (n.611+24G>T) c.*8055C>A (n.*8055C>A) c.344+24G>T (n.344+24G>T) c.251+24G>T (n.251+24G>T) | gnomAD v4 |
| 15 | g.48135009T>C | CA2628304842 | MYEF2,SLC24A5 | c.*7899A>G (n.*7899A>G) c.590+25T>C (n.590+25T>C) c.410+25T>C (n.410+25T>C) n.350+25T>C c.611+25T>C (n.611+25T>C) c.*8054A>G (n.*8054A>G) c.344+25T>C (n.344+25T>C) c.251+25T>C (n.251+25T>C) | gnomAD v4 |