Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.33401738_33401778dup | CA2735804665 | PEPD | c.911_951dup (p.Gly318ProfsTer17) c.866_906dup (p.Gly303ProfsTer17) c.962_1002dup (p.Gly335ProfsTer17) n.974_1014dup c.590_630dup (p.Gly211ProfsTer17) c.953_993dup (p.Gly332ProfsTer17) n.794_834dup c.1161_1201dup c.648_688dup (n.648_688dup) c.720_760dup n.373_413dup n.398_438dup c.900_940dup n.586_626dup c.907_947dup c.788_828dup (p.Gly277ProfsTer17) c.719_759dup (p.Gly254ProfsTer17) c.402_442dup | dbSNP |
19 | g.33401760G>A | CA506687842 | PEPD | c.928C>T (p.Leu310=) c.883C>T (p.Leu295=) c.979C>T (p.Leu327=) n.991C>T c.607C>T (p.Leu203=) c.970C>T (p.Leu324=) n.811C>T c.1178C>T c.665C>T (n.665C>T) c.737C>T n.390C>T n.415C>T c.917C>T n.603C>T c.924C>T c.805C>T (p.Leu269=) c.736C>T (p.Leu246=) c.419C>T | ClinVar |
19 | g.33401760G>C | CA405224166 | PEPD | c.928C>G (p.Leu310Val) c.883C>G (p.Leu295Val) c.979C>G (p.Leu327Val) n.991C>G c.607C>G (p.Leu203Val) c.970C>G (p.Leu324Val) n.811C>G c.1178C>G c.665C>G (n.665C>G) c.737C>G n.390C>G n.415C>G c.917C>G n.603C>G c.924C>G c.805C>G (p.Leu269Val) c.736C>G (p.Leu246Val) c.419C>G | |
19 | g.33401760G>T | CA405224167 | PEPD | c.928C>A (p.Leu310Met) c.883C>A (p.Leu295Met) c.979C>A (p.Leu327Met) n.991C>A c.607C>A (p.Leu203Met) c.970C>A (p.Leu324Met) n.811C>A c.1178C>A c.665C>A (n.665C>A) c.737C>A n.390C>A n.415C>A c.917C>A n.603C>A c.924C>A c.805C>A (p.Leu269Met) c.736C>A (p.Leu246Met) c.419C>A | |
19 | g.33401761C>A | CA506687849 | PEPD | c.927G>T (p.Val309=) c.882G>T (p.Val294=) c.978G>T (p.Val326=) n.990G>T c.606G>T (p.Val202=) c.969G>T (p.Val323=) n.810G>T c.1177G>T c.664G>T (n.664G>T) c.736G>T n.389G>T n.414G>T c.916G>T n.602G>T c.923G>T c.804G>T (p.Val268=) c.735G>T (p.Val245=) c.418G>T | |
19 | g.33401761C>G | CA506687848 | PEPD | c.927G>C (p.Val309=) c.882G>C (p.Val294=) c.978G>C (p.Val326=) n.990G>C c.606G>C (p.Val202=) c.969G>C (p.Val323=) n.810G>C c.1177G>C c.664G>C (n.664G>C) c.736G>C n.389G>C n.414G>C c.916G>C n.602G>C c.923G>C c.804G>C (p.Val268=) c.735G>C (p.Val245=) c.418G>C | |
19 | g.33401761C>T | CA506687846 | PEPD | c.927G>A (p.Val309=) c.882G>A (p.Val294=) c.978G>A (p.Val326=) n.990G>A c.606G>A (p.Val202=) c.969G>A (p.Val323=) n.810G>A c.1177G>A c.664G>A (n.664G>A) c.736G>A n.389G>A n.414G>A c.916G>A n.602G>A c.923G>A c.804G>A (p.Val268=) c.735G>A (p.Val245=) c.418G>A | ClinVar |
19 | g.33401762A>C | CA405224169 | PEPD | c.926T>G (p.Val309Gly) c.881T>G (p.Val294Gly) c.977T>G (p.Val326Gly) n.989T>G c.605T>G (p.Val202Gly) c.968T>G (p.Val323Gly) n.809T>G c.1176T>G c.663T>G (n.663T>G) c.735T>G n.388T>G n.413T>G c.915T>G n.601T>G c.922T>G c.803T>G (p.Val268Gly) c.734T>G (p.Val245Gly) c.417T>G | |
19 | g.33401762A>G | CA405224172 | PEPD | c.926T>C (p.Val309Ala) c.881T>C (p.Val294Ala) c.977T>C (p.Val326Ala) n.989T>C c.605T>C (p.Val202Ala) c.968T>C (p.Val323Ala) n.809T>C c.1176T>C c.663T>C (n.663T>C) c.735T>C n.388T>C n.413T>C c.915T>C n.601T>C c.922T>C c.803T>C (p.Val268Ala) c.734T>C (p.Val245Ala) c.417T>C | |
19 | g.33401762A>T | CA405224175 | PEPD | c.926T>A (p.Val309Glu) c.881T>A (p.Val294Glu) c.977T>A (p.Val326Glu) n.989T>A c.605T>A (p.Val202Glu) c.968T>A (p.Val323Glu) n.809T>A c.1176T>A c.663T>A (n.663T>A) c.735T>A n.388T>A n.413T>A c.915T>A n.601T>A c.922T>A c.803T>A (p.Val268Glu) c.734T>A (p.Val245Glu) c.417T>A | |
19 | g.33401763C>A | CA405224179 | PEPD | c.925G>T (p.Val309Leu) c.880G>T (p.Val294Leu) c.976G>T (p.Val326Leu) n.988G>T c.604G>T (p.Val202Leu) c.967G>T (p.Val323Leu) n.808G>T c.1175G>T c.662G>T (n.662G>T) c.734G>T n.387G>T n.412G>T c.914G>T n.600G>T c.921G>T c.802G>T (p.Val268Leu) c.733G>T (p.Val245Leu) c.416G>T | |
19 | g.33401763C>G | CA405224185 | PEPD | c.925G>C (p.Val309Leu) c.880G>C (p.Val294Leu) c.976G>C (p.Val326Leu) n.988G>C c.604G>C (p.Val202Leu) c.967G>C (p.Val323Leu) n.808G>C c.1175G>C c.662G>C (n.662G>C) c.734G>C n.387G>C n.412G>C c.914G>C n.600G>C c.921G>C c.802G>C (p.Val268Leu) c.733G>C (p.Val245Leu) c.416G>C | |
19 | g.33401763C>T | CA405224187 | PEPD | c.925G>A (p.Val309Met) c.880G>A (p.Val294Met) c.976G>A (p.Val326Met) n.988G>A c.604G>A (p.Val202Met) c.967G>A (p.Val323Met) n.808G>A c.1175G>A c.662G>A (n.662G>A) c.734G>A n.387G>A n.412G>A c.914G>A n.600G>A c.921G>A c.802G>A (p.Val268Met) c.733G>A (p.Val245Met) c.416G>A | |
19 | g.33401764T>A | CA506687858 | PEPD | c.924A>T (p.Ala308=) c.879A>T (p.Ala293=) c.975A>T (p.Ala325=) n.987A>T c.603A>T (p.Ala201=) c.966A>T (p.Ala322=) n.807A>T c.1174A>T c.661A>T (n.661A>T) c.733A>T n.386A>T n.411A>T c.913A>T n.599A>T c.920A>T c.801A>T (p.Ala267=) c.732A>T (p.Ala244=) c.415A>T | dbSNP gnomAD v4 |
19 | g.33401764T>C | CA506687860 | PEPD | c.924A>G (p.Ala308=) c.879A>G (p.Ala293=) c.975A>G (p.Ala325=) n.987A>G c.603A>G (p.Ala201=) c.966A>G (p.Ala322=) n.807A>G c.1174A>G c.661A>G (n.661A>G) c.733A>G n.386A>G n.411A>G c.913A>G n.599A>G c.920A>G c.801A>G (p.Ala267=) c.732A>G (p.Ala244=) c.415A>G | |
19 | g.33401764T>G | CA506687861 | PEPD | c.924A>C (p.Ala308=) c.879A>C (p.Ala293=) c.975A>C (p.Ala325=) n.987A>C c.603A>C (p.Ala201=) c.966A>C (p.Ala322=) n.807A>C c.1174A>C c.661A>C (n.661A>C) c.733A>C n.386A>C n.411A>C c.913A>C n.599A>C c.920A>C c.801A>C (p.Ala267=) c.732A>C (p.Ala244=) c.415A>C | |
19 | g.33401764T= | CA2332706100 | PEPD | c.924A= (p.Ala308=) c.879A= (p.Ala293=) c.975A= (p.Ala325=) n.987A= c.603A= (p.Ala201=) c.966A= (p.Ala322=) n.807A= c.1174A= c.661A= (n.661A=) c.733A= n.386A= n.411A= c.913A= n.599A= c.920A= c.801A= (p.Ala267=) c.732A= (p.Ala244=) c.415A= | |
19 | g.33401765G>A | CA405224188 | PEPD | c.923C>T (p.Ala308Val) c.878C>T (p.Ala293Val) c.974C>T (p.Ala325Val) n.986C>T c.602C>T (p.Ala201Val) c.965C>T (p.Ala322Val) n.806C>T c.1173C>T c.660C>T (n.660C>T) c.732C>T n.385C>T n.410C>T c.912C>T n.598C>T c.919C>T c.800C>T (p.Ala267Val) c.731C>T (p.Ala244Val) c.414C>T | |
19 | g.33401765G>C | CA405224189 | PEPD | c.923C>G (p.Ala308Gly) c.878C>G (p.Ala293Gly) c.974C>G (p.Ala325Gly) n.986C>G c.602C>G (p.Ala201Gly) c.965C>G (p.Ala322Gly) n.806C>G c.1173C>G c.660C>G (n.660C>G) c.732C>G n.385C>G n.410C>G c.912C>G n.598C>G c.919C>G c.800C>G (p.Ala267Gly) c.731C>G (p.Ala244Gly) c.414C>G | |
19 | g.33401765G>T | CA405224196 | PEPD | c.923C>A (p.Ala308Glu) c.878C>A (p.Ala293Glu) c.974C>A (p.Ala325Glu) n.986C>A c.602C>A (p.Ala201Glu) c.965C>A (p.Ala322Glu) n.806C>A c.1173C>A c.660C>A (n.660C>A) c.732C>A n.385C>A n.410C>A c.912C>A n.598C>A c.919C>A c.800C>A (p.Ala267Glu) c.731C>A (p.Ala244Glu) c.414C>A | gnomAD v4 |
19 | g.33401766C>A | CA405224204 | PEPD | c.922G>T (p.Ala308Ser) c.877G>T (p.Ala293Ser) c.973G>T (p.Ala325Ser) n.985G>T c.601G>T (p.Ala201Ser) c.964G>T (p.Ala322Ser) n.805G>T c.1172G>T c.659G>T (n.659G>T) c.731G>T n.384G>T n.409G>T c.911G>T n.597G>T c.918G>T c.799G>T (p.Ala267Ser) c.730G>T (p.Ala244Ser) c.413G>T | |
19 | g.33401766C>G | CA405224202 | PEPD | c.922G>C (p.Ala308Pro) c.877G>C (p.Ala293Pro) c.973G>C (p.Ala325Pro) n.985G>C c.601G>C (p.Ala201Pro) c.964G>C (p.Ala322Pro) n.805G>C c.1172G>C c.659G>C (n.659G>C) c.731G>C n.384G>C n.409G>C c.911G>C n.597G>C c.918G>C c.799G>C (p.Ala267Pro) c.730G>C (p.Ala244Pro) c.413G>C | |
19 | g.33401766C>T | CA405224199 | PEPD | c.922G>A (p.Ala308Thr) c.877G>A (p.Ala293Thr) c.973G>A (p.Ala325Thr) n.985G>A c.601G>A (p.Ala201Thr) c.964G>A (p.Ala322Thr) n.805G>A c.1172G>A c.659G>A (n.659G>A) c.731G>A n.384G>A n.409G>A c.911G>A n.597G>A c.918G>A c.799G>A (p.Ala267Thr) c.730G>A (p.Ala244Thr) c.413G>A | gnomAD v4 |
19 | g.33401767C>A | CA405224206 | PEPD | c.921G>T (p.Glu307Asp) c.876G>T (p.Glu292Asp) c.972G>T (p.Glu324Asp) n.984G>T c.600G>T (p.Glu200Asp) c.963G>T (p.Glu321Asp) n.804G>T c.1171G>T c.658G>T (n.658G>T) c.730G>T n.383G>T n.408G>T c.910G>T n.596G>T c.917G>T c.798G>T (p.Glu266Asp) c.729G>T (p.Glu243Asp) c.412G>T | |
19 | g.33401767C= | CA2332706101 | PEPD | c.921G= (p.Glu307=) c.876G= (p.Glu292=) c.972G= (p.Glu324=) n.984G= c.600G= (p.Glu200=) c.963G= (p.Glu321=) n.804G= c.1171G= c.658G= (n.658G=) c.730G= n.383G= n.408G= c.910G= n.596G= c.917G= c.798G= (p.Glu266=) c.729G= (p.Glu243=) c.412G= | |
19 | g.33401767C>G | CA405224209 | PEPD | c.921G>C (p.Glu307Asp) c.876G>C (p.Glu292Asp) c.972G>C (p.Glu324Asp) n.984G>C c.600G>C (p.Glu200Asp) c.963G>C (p.Glu321Asp) n.804G>C c.1171G>C c.658G>C (n.658G>C) c.730G>C n.383G>C n.408G>C c.910G>C n.596G>C c.917G>C c.798G>C (p.Glu266Asp) c.729G>C (p.Glu243Asp) c.412G>C | |
19 | g.33401767C>T | CA506687871 | PEPD | c.921G>A (p.Glu307=) c.876G>A (p.Glu292=) c.972G>A (p.Glu324=) n.984G>A c.600G>A (p.Glu200=) c.963G>A (p.Glu321=) n.804G>A c.1171G>A c.658G>A (n.658G>A) c.730G>A n.383G>A n.408G>A c.910G>A n.596G>A c.917G>A c.798G>A (p.Glu266=) c.729G>A (p.Glu243=) c.412G>A | |
19 | g.33401768T>A | CA405224213 | PEPD | c.920A>T (p.Glu307Val) c.875A>T (p.Glu292Val) c.971A>T (p.Glu324Val) n.983A>T c.599A>T (p.Glu200Val) c.962A>T (p.Glu321Val) n.803A>T c.1170A>T c.657A>T (n.657A>T) c.729A>T n.382A>T n.407A>T c.909A>T n.595A>T c.916A>T c.797A>T (p.Glu266Val) c.728A>T (p.Glu243Val) c.411A>T | |
19 | g.33401768T>C | CA405224216 | PEPD | c.920A>G (p.Glu307Gly) c.875A>G (p.Glu292Gly) c.971A>G (p.Glu324Gly) n.983A>G c.599A>G (p.Glu200Gly) c.962A>G (p.Glu321Gly) n.803A>G c.1170A>G c.657A>G (n.657A>G) c.729A>G n.382A>G n.407A>G c.909A>G n.595A>G c.916A>G c.797A>G (p.Glu266Gly) c.728A>G (p.Glu243Gly) c.411A>G | |
19 | g.33401768T>G | CA405224219 | PEPD | c.920A>C (p.Glu307Ala) c.875A>C (p.Glu292Ala) c.971A>C (p.Glu324Ala) n.983A>C c.599A>C (p.Glu200Ala) c.962A>C (p.Glu321Ala) n.803A>C c.1170A>C c.657A>C (n.657A>C) c.729A>C n.382A>C n.407A>C c.909A>C n.595A>C c.916A>C c.797A>C (p.Glu266Ala) c.728A>C (p.Glu243Ala) c.411A>C | gnomAD v4 |
19 | g.33401768_33401774dup | CA2332706102 | PEPD | c.914_920dup (p.Glu307AspfsTer3) c.869_875dup (p.Glu292AspfsTer3) c.965_971dup (p.Glu324AspfsTer3) n.977_983dup c.593_599dup (p.Glu200AspfsTer3) c.956_962dup (p.Glu321AspfsTer3) n.797_803dup c.1164_1170dup c.651_657dup (n.651_657dup) c.723_729dup n.376_382dup n.401_407dup c.903_909dup n.589_595dup c.910_916dup c.791_797dup (p.Glu266AspfsTer3) c.722_728dup (p.Glu243AspfsTer3) c.405_411dup | dbSNP gnomAD v4 |
19 | g.33401769C>A | CA405224220 | PEPD | c.919G>T (p.Glu307Ter) c.874G>T (p.Glu292Ter) c.970G>T (p.Glu324Ter) n.982G>T c.598G>T (p.Glu200Ter) c.961G>T (p.Glu321Ter) n.802G>T c.1169G>T c.656G>T (n.656G>T) c.728G>T n.381G>T n.406G>T c.908G>T n.594G>T c.915G>T c.796G>T (p.Glu266Ter) c.727G>T (p.Glu243Ter) c.410G>T | |
19 | g.33401769C>G | CA405224221 | PEPD | c.919G>C (p.Glu307Gln) c.874G>C (p.Glu292Gln) c.970G>C (p.Glu324Gln) n.982G>C c.598G>C (p.Glu200Gln) c.961G>C (p.Glu321Gln) n.802G>C c.1169G>C c.656G>C (n.656G>C) c.728G>C n.381G>C n.406G>C c.908G>C n.594G>C c.915G>C c.796G>C (p.Glu266Gln) c.727G>C (p.Glu243Gln) c.410G>C | |
19 | g.33401769C>T | CA405224224 | PEPD | c.919G>A (p.Glu307Lys) c.874G>A (p.Glu292Lys) c.970G>A (p.Glu324Lys) n.982G>A c.598G>A (p.Glu200Lys) c.961G>A (p.Glu321Lys) n.802G>A c.1169G>A c.656G>A (n.656G>A) c.728G>A n.381G>A n.406G>A c.908G>A n.594G>A c.915G>A c.796G>A (p.Glu266Lys) c.727G>A (p.Glu243Lys) c.410G>A | |
19 | g.33401770A>C | CA405224228 | PEPD | c.918T>G (p.Tyr306Ter) c.873T>G (p.Tyr291Ter) c.969T>G (p.Tyr323Ter) n.981T>G c.597T>G (p.Tyr199Ter) c.960T>G (p.Tyr320Ter) n.801T>G c.1168T>G c.655T>G (n.655T>G) c.727T>G n.380T>G n.405T>G c.907T>G n.593T>G c.914T>G c.795T>G (p.Tyr265Ter) c.726T>G (p.Tyr242Ter) c.409T>G | |
19 | g.33401770A>G | CA506687884 | PEPD | c.918T>C (p.Tyr306=) c.873T>C (p.Tyr291=) c.969T>C (p.Tyr323=) n.981T>C c.597T>C (p.Tyr199=) c.960T>C (p.Tyr320=) n.801T>C c.1168T>C c.655T>C (n.655T>C) c.727T>C n.380T>C n.405T>C c.907T>C n.593T>C c.914T>C c.795T>C (p.Tyr265=) c.726T>C (p.Tyr242=) c.409T>C | ClinVar |
19 | g.33401770A>T | CA405224230 | PEPD | c.918T>A (p.Tyr306Ter) c.873T>A (p.Tyr291Ter) c.969T>A (p.Tyr323Ter) n.981T>A c.597T>A (p.Tyr199Ter) c.960T>A (p.Tyr320Ter) n.801T>A c.1168T>A c.655T>A (n.655T>A) c.727T>A n.380T>A n.405T>A c.907T>A n.593T>A c.914T>A c.795T>A (p.Tyr265Ter) c.726T>A (p.Tyr242Ter) c.409T>A | |
19 | g.33401771T>A | CA405224233 | PEPD | c.917A>T (p.Tyr306Phe) c.872A>T (p.Tyr291Phe) c.968A>T (p.Tyr323Phe) n.980A>T c.596A>T (p.Tyr199Phe) c.959A>T (p.Tyr320Phe) n.800A>T c.1167A>T c.654A>T (n.654A>T) c.726A>T n.379A>T n.404A>T c.906A>T n.592A>T c.913A>T c.794A>T (p.Tyr265Phe) c.725A>T (p.Tyr242Phe) c.408A>T | |
19 | g.33401771T>C | CA9364078 | PEPD | c.917A>G (p.Tyr306Cys) c.872A>G (p.Tyr291Cys) c.968A>G (p.Tyr323Cys) n.980A>G c.596A>G (p.Tyr199Cys) c.959A>G (p.Tyr320Cys) n.800A>G c.1167A>G c.654A>G (n.654A>G) c.726A>G n.379A>G n.404A>G c.906A>G n.592A>G c.913A>G c.794A>G (p.Tyr265Cys) c.725A>G (p.Tyr242Cys) c.408A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401771T>G | CA405224242 | PEPD | c.917A>C (p.Tyr306Ser) c.872A>C (p.Tyr291Ser) c.968A>C (p.Tyr323Ser) n.980A>C c.596A>C (p.Tyr199Ser) c.959A>C (p.Tyr320Ser) n.800A>C c.1167A>C c.654A>C (n.654A>C) c.726A>C n.379A>C n.404A>C c.906A>C n.592A>C c.913A>C c.794A>C (p.Tyr265Ser) c.725A>C (p.Tyr242Ser) c.408A>C | gnomAD v4 |
19 | g.33401771T= | CA2332706103 | PEPD | c.917A= (p.Tyr306=) c.872A= (p.Tyr291=) c.968A= (p.Tyr323=) n.980A= c.596A= (p.Tyr199=) c.959A= (p.Tyr320=) n.800A= c.1167A= c.654A= (n.654A=) c.726A= n.379A= n.404A= c.906A= n.592A= c.913A= c.794A= (p.Tyr265=) c.725A= (p.Tyr242=) c.408A= | |
19 | g.33401772A>C | CA405224248 | PEPD | c.916T>G (p.Tyr306Asp) c.871T>G (p.Tyr291Asp) c.967T>G (p.Tyr323Asp) n.979T>G c.595T>G (p.Tyr199Asp) c.958T>G (p.Tyr320Asp) n.799T>G c.1166T>G c.653T>G (n.653T>G) c.725T>G n.378T>G n.403T>G c.905T>G n.591T>G c.912T>G c.793T>G (p.Tyr265Asp) c.724T>G (p.Tyr242Asp) c.407T>G | |
19 | g.33401772A>G | CA405224251 | PEPD | c.916T>C (p.Tyr306His) c.871T>C (p.Tyr291His) c.967T>C (p.Tyr323His) n.979T>C c.595T>C (p.Tyr199His) c.958T>C (p.Tyr320His) n.799T>C c.1166T>C c.653T>C (n.653T>C) c.725T>C n.378T>C n.403T>C c.905T>C n.591T>C c.912T>C c.793T>C (p.Tyr265His) c.724T>C (p.Tyr242His) c.407T>C | |
19 | g.33401772A>T | CA405224246 | PEPD | c.916T>A (p.Tyr306Asn) c.871T>A (p.Tyr291Asn) c.967T>A (p.Tyr323Asn) n.979T>A c.595T>A (p.Tyr199Asn) c.958T>A (p.Tyr320Asn) n.799T>A c.1166T>A c.653T>A (n.653T>A) c.725T>A n.378T>A n.403T>A c.905T>A n.591T>A c.912T>A c.793T>A (p.Tyr265Asn) c.724T>A (p.Tyr242Asn) c.407T>A | |
19 | g.33401773G>A | CA506687893 | PEPD | c.915C>T (p.Val305=) c.870C>T (p.Val290=) c.966C>T (p.Val322=) n.978C>T c.594C>T (p.Val198=) c.957C>T (p.Val319=) n.798C>T c.1165C>T c.652C>T (n.652C>T) c.724C>T n.377C>T n.402C>T c.904C>T n.590C>T c.911C>T c.792C>T (p.Val264=) c.723C>T (p.Val241=) c.406C>T | dbSNP |
19 | g.33401773G>C | CA506687895 | PEPD | c.915C>G (p.Val305=) c.870C>G (p.Val290=) c.966C>G (p.Val322=) n.978C>G c.594C>G (p.Val198=) c.957C>G (p.Val319=) n.798C>G c.1165C>G c.652C>G (n.652C>G) c.724C>G n.377C>G n.402C>G c.904C>G n.590C>G c.911C>G c.792C>G (p.Val264=) c.723C>G (p.Val241=) c.406C>G | |
19 | g.33401773G= | CA2332706104 | PEPD | c.915C= (p.Val305=) c.870C= (p.Val290=) c.966C= (p.Val322=) n.978C= c.594C= (p.Val198=) c.957C= (p.Val319=) n.798C= c.1165C= c.652C= (n.652C=) c.724C= n.377C= n.402C= c.904C= n.590C= c.911C= c.792C= (p.Val264=) c.723C= (p.Val241=) c.406C= | |
19 | g.33401773G>T | CA506687897 | PEPD | c.915C>A (p.Val305=) c.870C>A (p.Val290=) c.966C>A (p.Val322=) n.978C>A c.594C>A (p.Val198=) c.957C>A (p.Val319=) n.798C>A c.1165C>A c.652C>A (n.652C>A) c.724C>A n.377C>A n.402C>A c.904C>A n.590C>A c.911C>A c.792C>A (p.Val264=) c.723C>A (p.Val241=) c.406C>A | |
19 | g.33401774A= | CA2332706105 | PEPD | c.914T= (p.Val305=) c.869T= (p.Val290=) c.965T= (p.Val322=) n.977T= c.593T= (p.Val198=) c.956T= (p.Val319=) n.797T= c.1164T= c.651T= (n.651T=) c.723T= n.376T= n.401T= c.903T= n.589T= c.910T= c.791T= (p.Val264=) c.722T= (p.Val241=) c.405T= | |
19 | g.33401774A>C | CA405224257 | PEPD | c.914T>G (p.Val305Gly) c.869T>G (p.Val290Gly) c.965T>G (p.Val322Gly) n.977T>G c.593T>G (p.Val198Gly) c.956T>G (p.Val319Gly) n.797T>G c.1164T>G c.651T>G (n.651T>G) c.723T>G n.376T>G n.401T>G c.903T>G n.589T>G c.910T>G c.791T>G (p.Val264Gly) c.722T>G (p.Val241Gly) c.405T>G | |
19 | g.33401774A>G | CA405224253 | PEPD | c.914T>C (p.Val305Ala) c.869T>C (p.Val290Ala) c.965T>C (p.Val322Ala) n.977T>C c.593T>C (p.Val198Ala) c.956T>C (p.Val319Ala) n.797T>C c.1164T>C c.651T>C (n.651T>C) c.723T>C n.376T>C n.401T>C c.903T>C n.589T>C c.910T>C c.791T>C (p.Val264Ala) c.722T>C (p.Val241Ala) c.405T>C | dbSNP gnomAD v4 |
19 | g.33401774A>T | CA405224256 | PEPD | c.914T>A (p.Val305Asp) c.869T>A (p.Val290Asp) c.965T>A (p.Val322Asp) n.977T>A c.593T>A (p.Val198Asp) c.956T>A (p.Val319Asp) n.797T>A c.1164T>A c.651T>A (n.651T>A) c.723T>A n.376T>A n.401T>A c.903T>A n.589T>A c.910T>A c.791T>A (p.Val264Asp) c.722T>A (p.Val241Asp) c.405T>A | gnomAD v4 |
19 | g.33401775C>A | CA405224261 | PEPD | c.913G>T (p.Val305Phe) c.868G>T (p.Val290Phe) c.964G>T (p.Val322Phe) n.976G>T c.592G>T (p.Val198Phe) c.955G>T (p.Val319Phe) n.796G>T c.1163G>T c.650G>T (n.650G>T) c.722G>T n.375G>T n.400G>T c.902G>T n.588G>T c.909G>T c.790G>T (p.Val264Phe) c.721G>T (p.Val241Phe) c.404G>T | |
19 | g.33401775C= | CA2332706106 | PEPD | c.913G= (p.Val305=) c.868G= (p.Val290=) c.964G= (p.Val322=) n.976G= c.592G= (p.Val198=) c.955G= (p.Val319=) n.796G= c.1163G= c.650G= (n.650G=) c.722G= n.375G= n.400G= c.902G= n.588G= c.909G= c.790G= (p.Val264=) c.721G= (p.Val241=) c.404G= | |
19 | g.33401775C>G | CA405224263 | PEPD | c.913G>C (p.Val305Leu) c.868G>C (p.Val290Leu) c.964G>C (p.Val322Leu) n.976G>C c.592G>C (p.Val198Leu) c.955G>C (p.Val319Leu) n.796G>C c.1163G>C c.650G>C (n.650G>C) c.722G>C n.375G>C n.400G>C c.902G>C n.588G>C c.909G>C c.790G>C (p.Val264Leu) c.721G>C (p.Val241Leu) c.404G>C | |
19 | g.33401775C>T | CA9364080 | PEPD | c.913G>A (p.Val305Ile) c.868G>A (p.Val290Ile) c.964G>A (p.Val322Ile) n.976G>A c.592G>A (p.Val198Ile) c.955G>A (p.Val319Ile) n.796G>A c.1163G>A c.650G>A (n.650G>A) c.722G>A n.375G>A n.400G>A c.902G>A n.588G>A c.909G>A c.790G>A (p.Val264Ile) c.721G>A (p.Val241Ile) c.404G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401776_33401778dup | CA9364079 | PEPD | c.911_913dup (p.Ala304_Val305insAla) c.866_868dup (p.Ala289_Val290insAla) c.962_964dup (p.Ala321_Val322insAla) n.974_976dup c.590_592dup (p.Ala197_Val198insAla) c.953_955dup (p.Ala318_Val319insAla) n.794_796dup c.1161_1163dup c.648_650dup (n.648_650dup) c.720_722dup n.373_375dup n.398_400dup c.900_902dup n.586_588dup c.907_909dup c.788_790dup (p.Ala263_Val264insAla) c.719_721dup (p.Ala240_Val241insAla) c.402_404dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.33401776G>A | CA9364081 | PEPD | c.912C>T (p.Ala304=) c.867C>T (p.Ala289=) c.963C>T (p.Ala321=) n.975C>T c.591C>T (p.Ala197=) c.954C>T (p.Ala318=) n.795C>T c.1162C>T c.649C>T (n.649C>T) c.721C>T n.374C>T n.399C>T c.901C>T n.587C>T c.908C>T c.789C>T (p.Ala263=) c.720C>T (p.Ala240=) c.403C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.33401776G>C | CA506687909 | PEPD | c.912C>G (p.Ala304=) c.867C>G (p.Ala289=) c.963C>G (p.Ala321=) n.975C>G c.591C>G (p.Ala197=) c.954C>G (p.Ala318=) n.795C>G c.1162C>G c.649C>G (n.649C>G) c.721C>G n.374C>G n.399C>G c.901C>G n.587C>G c.908C>G c.789C>G (p.Ala263=) c.720C>G (p.Ala240=) c.403C>G | |
19 | g.33401776G= | CA2332706107 | PEPD | c.912C= (p.Ala304=) c.867C= (p.Ala289=) c.963C= (p.Ala321=) n.975C= c.591C= (p.Ala197=) c.954C= (p.Ala318=) n.795C= c.1162C= c.649C= (n.649C=) c.721C= n.374C= n.399C= c.901C= n.587C= c.908C= c.789C= (p.Ala263=) c.720C= (p.Ala240=) c.403C= | |
19 | g.33401776G>T | CA506687911 | PEPD | c.912C>A (p.Ala304=) c.867C>A (p.Ala289=) c.963C>A (p.Ala321=) n.975C>A c.591C>A (p.Ala197=) c.954C>A (p.Ala318=) n.795C>A c.1162C>A c.649C>A (n.649C>A) c.721C>A n.374C>A n.399C>A c.901C>A n.587C>A c.908C>A c.789C>A (p.Ala263=) c.720C>A (p.Ala240=) c.403C>A | |
19 | g.33401777G>A | CA405224270 | PEPD | c.911C>T (p.Ala304Val) c.866C>T (p.Ala289Val) c.962C>T (p.Ala321Val) n.974C>T c.590C>T (p.Ala197Val) c.953C>T (p.Ala318Val) n.794C>T c.1161C>T c.648C>T (n.648C>T) c.720C>T n.373C>T n.398C>T c.900C>T n.586C>T c.907C>T c.788C>T (p.Ala263Val) c.719C>T (p.Ala240Val) c.402C>T | |
19 | g.33401777G>C | CA405224272 | PEPD | c.911C>G (p.Ala304Gly) c.866C>G (p.Ala289Gly) c.962C>G (p.Ala321Gly) n.974C>G c.590C>G (p.Ala197Gly) c.953C>G (p.Ala318Gly) n.794C>G c.1161C>G c.648C>G (n.648C>G) c.720C>G n.373C>G n.398C>G c.900C>G n.586C>G c.907C>G c.788C>G (p.Ala263Gly) c.719C>G (p.Ala240Gly) c.402C>G | |
19 | g.33401777G>T | CA405224274 | PEPD | c.911C>A (p.Ala304Asp) c.866C>A (p.Ala289Asp) c.962C>A (p.Ala321Asp) n.974C>A c.590C>A (p.Ala197Asp) c.953C>A (p.Ala318Asp) n.794C>A c.1161C>A c.648C>A (n.648C>A) c.720C>A n.373C>A n.398C>A c.900C>A n.586C>A c.907C>A c.788C>A (p.Ala263Asp) c.719C>A (p.Ala240Asp) c.402C>A | |
19 | g.33401778C>A | CA405224276 | PEPD | c.910G>T (p.Ala304Ser) c.865G>T (p.Ala289Ser) c.961G>T (p.Ala321Ser) n.973G>T c.589G>T (p.Ala197Ser) c.952G>T (p.Ala318Ser) n.793G>T c.1160G>T c.647G>T (n.647G>T) c.719G>T n.372G>T n.397G>T c.899G>T n.585G>T c.906G>T c.787G>T (p.Ala263Ser) c.718G>T (p.Ala240Ser) c.401G>T | |
19 | g.33401778C= | CA2332706108 | PEPD | c.910G= (p.Ala304=) c.865G= (p.Ala289=) c.961G= (p.Ala321=) n.973G= c.589G= (p.Ala197=) c.952G= (p.Ala318=) n.793G= c.1160G= c.647G= (n.647G=) c.719G= n.372G= n.397G= c.899G= n.585G= c.906G= c.787G= (p.Ala263=) c.718G= (p.Ala240=) c.401G= | |
19 | g.33401778C>G | CA405224278 | PEPD | c.910G>C (p.Ala304Pro) c.865G>C (p.Ala289Pro) c.961G>C (p.Ala321Pro) n.973G>C c.589G>C (p.Ala197Pro) c.952G>C (p.Ala318Pro) n.793G>C c.1160G>C c.647G>C (n.647G>C) c.719G>C n.372G>C n.397G>C c.899G>C n.585G>C c.906G>C c.787G>C (p.Ala263Pro) c.718G>C (p.Ala240Pro) c.401G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.33401778C>T | CA405224280 | PEPD | c.910G>A (p.Ala304Thr) c.865G>A (p.Ala289Thr) c.961G>A (p.Ala321Thr) n.973G>A c.589G>A (p.Ala197Thr) c.952G>A (p.Ala318Thr) n.793G>A c.1160G>A c.647G>A (n.647G>A) c.719G>A n.372G>A n.397G>A c.899G>A n.585G>A c.906G>A c.787G>A (p.Ala263Thr) c.718G>A (p.Ala240Thr) c.401G>A | |
19 | g.33401779C>A | CA405224283 | PEPD | c.909G>T (p.Lys303Asn) c.864G>T (p.Lys288Asn) c.960G>T (p.Lys320Asn) n.972G>T c.588G>T (p.Lys196Asn) c.951G>T (p.Lys317Asn) n.792G>T c.1159G>T c.646G>T (n.646G>T) c.718G>T n.371G>T n.396G>T c.898G>T n.584G>T c.905G>T c.786G>T (p.Lys262Asn) c.717G>T (p.Lys239Asn) c.400G>T | |
19 | g.33401779C>G | CA405224287 | PEPD | c.909G>C (p.Lys303Asn) c.864G>C (p.Lys288Asn) c.960G>C (p.Lys320Asn) n.972G>C c.588G>C (p.Lys196Asn) c.951G>C (p.Lys317Asn) n.792G>C c.1159G>C c.646G>C (n.646G>C) c.718G>C n.371G>C n.396G>C c.898G>C n.584G>C c.905G>C c.786G>C (p.Lys262Asn) c.717G>C (p.Lys239Asn) c.400G>C | |
19 | g.33401779C>T | CA506687921 | PEPD | c.909G>A (p.Lys303=) c.864G>A (p.Lys288=) c.960G>A (p.Lys320=) n.972G>A c.588G>A (p.Lys196=) c.951G>A (p.Lys317=) n.792G>A c.1159G>A c.646G>A (n.646G>A) c.718G>A n.371G>A n.396G>A c.898G>A n.584G>A c.905G>A c.786G>A (p.Lys262=) c.717G>A (p.Lys239=) c.400G>A | |
19 | g.33401780T>A | CA405224290 | PEPD | c.908A>T (p.Lys303Met) c.863A>T (p.Lys288Met) c.959A>T (p.Lys320Met) n.971A>T c.587A>T (p.Lys196Met) c.950A>T (p.Lys317Met) n.791A>T c.1158A>T c.645A>T (n.645A>T) c.717A>T n.370A>T n.395A>T c.897A>T n.583A>T c.904A>T c.785A>T (p.Lys262Met) c.716A>T (p.Lys239Met) c.399A>T | |
19 | g.33401780T>C | CA405224293 | PEPD | c.908A>G (p.Lys303Arg) c.863A>G (p.Lys288Arg) c.959A>G (p.Lys320Arg) n.971A>G c.587A>G (p.Lys196Arg) c.950A>G (p.Lys317Arg) n.791A>G c.1158A>G c.645A>G (n.645A>G) c.717A>G n.370A>G n.395A>G c.897A>G n.583A>G c.904A>G c.785A>G (p.Lys262Arg) c.716A>G (p.Lys239Arg) c.399A>G | gnomAD v4 |
19 | g.33401780T>G | CA405224296 | PEPD | c.908A>C (p.Lys303Thr) c.863A>C (p.Lys288Thr) c.959A>C (p.Lys320Thr) n.971A>C c.587A>C (p.Lys196Thr) c.950A>C (p.Lys317Thr) n.791A>C c.1158A>C c.645A>C (n.645A>C) c.717A>C n.370A>C n.395A>C c.897A>C n.583A>C c.904A>C c.785A>C (p.Lys262Thr) c.716A>C (p.Lys239Thr) c.399A>C | |
19 | g.33401781T>A | CA405224300 | PEPD | c.907A>T (p.Lys303Ter) c.862A>T (p.Lys288Ter) c.958A>T (p.Lys320Ter) n.970A>T c.586A>T (p.Lys196Ter) c.949A>T (p.Lys317Ter) n.790A>T c.1157A>T c.644A>T (n.644A>T) c.716A>T n.369A>T n.394A>T c.896A>T n.582A>T c.903A>T c.784A>T (p.Lys262Ter) c.715A>T (p.Lys239Ter) c.398A>T | |
19 | g.33401781T>C | CA405224302 | PEPD | c.907A>G (p.Lys303Glu) c.862A>G (p.Lys288Glu) c.958A>G (p.Lys320Glu) n.970A>G c.586A>G (p.Lys196Glu) c.949A>G (p.Lys317Glu) n.790A>G c.1157A>G c.644A>G (n.644A>G) c.716A>G n.369A>G n.394A>G c.896A>G n.582A>G c.903A>G c.784A>G (p.Lys262Glu) c.715A>G (p.Lys239Glu) c.398A>G | gnomAD v4 |
19 | g.33401781T>G | CA405224305 | PEPD | c.907A>C (p.Lys303Gln) c.862A>C (p.Lys288Gln) c.958A>C (p.Lys320Gln) n.970A>C c.586A>C (p.Lys196Gln) c.949A>C (p.Lys317Gln) n.790A>C c.1157A>C c.644A>C (n.644A>C) c.716A>C n.369A>C n.394A>C c.896A>C n.582A>C c.903A>C c.784A>C (p.Lys262Gln) c.715A>C (p.Lys239Gln) c.398A>C | |
19 | g.33401782C>A | CA405224307 | PEPD | c.906G>T (p.Gln302His) c.861G>T (p.Gln287His) c.957G>T (p.Gln319His) n.969G>T c.585G>T (p.Gln195His) c.948G>T (p.Gln316His) n.789G>T c.1156G>T c.643G>T (n.643G>T) c.715G>T n.368G>T n.393G>T c.895G>T n.581G>T c.902G>T c.783G>T (p.Gln261His) c.714G>T (p.Gln238His) c.397G>T | |
19 | g.33401782C>G | CA405224310 | PEPD | c.906G>C (p.Gln302His) c.861G>C (p.Gln287His) c.957G>C (p.Gln319His) n.969G>C c.585G>C (p.Gln195His) c.948G>C (p.Gln316His) n.789G>C c.1156G>C c.643G>C (n.643G>C) c.715G>C n.368G>C n.393G>C c.895G>C n.581G>C c.902G>C c.783G>C (p.Gln261His) c.714G>C (p.Gln238His) c.397G>C | |
19 | g.33401782C>T | CA506687932 | PEPD | c.906G>A (p.Gln302=) c.861G>A (p.Gln287=) c.957G>A (p.Gln319=) n.969G>A c.585G>A (p.Gln195=) c.948G>A (p.Gln316=) n.789G>A c.1156G>A c.643G>A (n.643G>A) c.715G>A n.368G>A n.393G>A c.895G>A n.581G>A c.902G>A c.783G>A (p.Gln261=) c.714G>A (p.Gln238=) c.397G>A | |
19 | g.33401783T>A | CA405224314 | PEPD | c.905A>T (p.Gln302Leu) c.860A>T (p.Gln287Leu) c.956A>T (p.Gln319Leu) n.968A>T c.584A>T (p.Gln195Leu) c.947A>T (p.Gln316Leu) n.788A>T c.1155A>T c.642A>T (n.642A>T) c.714A>T n.367A>T n.392A>T c.894A>T n.580A>T c.901A>T c.782A>T (p.Gln261Leu) c.713A>T (p.Gln238Leu) c.396A>T | |
19 | g.33401783T>C | CA405224317 | PEPD | c.905A>G (p.Gln302Arg) c.860A>G (p.Gln287Arg) c.956A>G (p.Gln319Arg) n.968A>G c.584A>G (p.Gln195Arg) c.947A>G (p.Gln316Arg) n.788A>G c.1155A>G c.642A>G (n.642A>G) c.714A>G n.367A>G n.392A>G c.894A>G n.580A>G c.901A>G c.782A>G (p.Gln261Arg) c.713A>G (p.Gln238Arg) c.396A>G | |
19 | g.33401783T>G | CA405224319 | PEPD | c.905A>C (p.Gln302Pro) c.860A>C (p.Gln287Pro) c.956A>C (p.Gln319Pro) n.968A>C c.584A>C (p.Gln195Pro) c.947A>C (p.Gln316Pro) n.788A>C c.1155A>C c.642A>C (n.642A>C) c.714A>C n.367A>C n.392A>C c.894A>C n.580A>C c.901A>C c.782A>C (p.Gln261Pro) c.713A>C (p.Gln238Pro) c.396A>C | |
19 | g.33401784G>A | CA405224327 | PEPD | c.904C>T (p.Gln302Ter) c.859C>T (p.Gln287Ter) c.955C>T (p.Gln319Ter) n.967C>T c.583C>T (p.Gln195Ter) c.946C>T (p.Gln316Ter) n.787C>T c.1154C>T c.641C>T (n.641C>T) c.713C>T n.366C>T n.391C>T c.893C>T n.579C>T c.900C>T c.781C>T (p.Gln261Ter) c.712C>T (p.Gln238Ter) c.395C>T | dbSNP gnomAD v2 |
19 | g.33401784G>C | CA405224330 | PEPD | c.904C>G (p.Gln302Glu) c.859C>G (p.Gln287Glu) c.955C>G (p.Gln319Glu) n.967C>G c.583C>G (p.Gln195Glu) c.946C>G (p.Gln316Glu) n.787C>G c.1154C>G c.641C>G (n.641C>G) c.713C>G n.366C>G n.391C>G c.893C>G n.579C>G c.900C>G c.781C>G (p.Gln261Glu) c.712C>G (p.Gln238Glu) c.395C>G | |
19 | g.33401784G= | CA2332706109 | PEPD | c.904C= (p.Gln302=) c.859C= (p.Gln287=) c.955C= (p.Gln319=) n.967C= c.583C= (p.Gln195=) c.946C= (p.Gln316=) n.787C= c.1154C= c.641C= (n.641C=) c.713C= n.366C= n.391C= c.893C= n.579C= c.900C= c.781C= (p.Gln261=) c.712C= (p.Gln238=) c.395C= | |
19 | g.33401784G>T | CA405224324 | PEPD | c.904C>A (p.Gln302Lys) c.859C>A (p.Gln287Lys) c.955C>A (p.Gln319Lys) n.967C>A c.583C>A (p.Gln195Lys) c.946C>A (p.Gln316Lys) n.787C>A c.1154C>A c.641C>A (n.641C>A) c.713C>A n.366C>A n.391C>A c.893C>A n.579C>A c.900C>A c.781C>A (p.Gln261Lys) c.712C>A (p.Gln238Lys) c.395C>A | |
19 | g.33401785G>A | CA506687940 | PEPD | c.903C>T (p.Asp301=) c.858C>T (p.Asp286=) c.954C>T (p.Asp318=) n.966C>T c.582C>T (p.Asp194=) c.945C>T (p.Asp315=) n.786C>T c.1153C>T c.640C>T (n.640C>T) c.712C>T n.365C>T n.390C>T c.892C>T n.578C>T c.899C>T c.780C>T (p.Asp260=) c.711C>T (p.Asp237=) c.394C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.33401785G>C | CA405224333 | PEPD | c.903C>G (p.Asp301Glu) c.858C>G (p.Asp286Glu) c.954C>G (p.Asp318Glu) n.966C>G c.582C>G (p.Asp194Glu) c.945C>G (p.Asp315Glu) n.786C>G c.1153C>G c.640C>G (n.640C>G) c.712C>G n.365C>G n.390C>G c.892C>G n.578C>G c.899C>G c.780C>G (p.Asp260Glu) c.711C>G (p.Asp237Glu) c.394C>G | |
19 | g.33401785G= | CA2332706110 | PEPD | c.903C= (p.Asp301=) c.858C= (p.Asp286=) c.954C= (p.Asp318=) n.966C= c.582C= (p.Asp194=) c.945C= (p.Asp315=) n.786C= c.1153C= c.640C= (n.640C=) c.712C= n.365C= n.390C= c.892C= n.578C= c.899C= c.780C= (p.Asp260=) c.711C= (p.Asp237=) c.394C= | |
19 | g.33401785G>T | CA405224335 | PEPD | c.903C>A (p.Asp301Glu) c.858C>A (p.Asp286Glu) c.954C>A (p.Asp318Glu) n.966C>A c.582C>A (p.Asp194Glu) c.945C>A (p.Asp315Glu) n.786C>A c.1153C>A c.640C>A (n.640C>A) c.712C>A n.365C>A n.390C>A c.892C>A n.578C>A c.899C>A c.780C>A (p.Asp260Glu) c.711C>A (p.Asp237Glu) c.394C>A | |
19 | g.33401786T>A | CA405224338 | PEPD | c.902A>T (p.Asp301Val) c.857A>T (p.Asp286Val) c.953A>T (p.Asp318Val) n.965A>T c.581A>T (p.Asp194Val) c.944A>T (p.Asp315Val) n.785A>T c.1152A>T c.639A>T (n.639A>T) c.711A>T n.364A>T n.389A>T c.891A>T n.577A>T c.898A>T c.779A>T (p.Asp260Val) c.710A>T (p.Asp237Val) c.393A>T | |
19 | g.33401786T>C | CA405224342 | PEPD | c.902A>G (p.Asp301Gly) c.857A>G (p.Asp286Gly) c.953A>G (p.Asp318Gly) n.965A>G c.581A>G (p.Asp194Gly) c.944A>G (p.Asp315Gly) n.785A>G c.1152A>G c.639A>G (n.639A>G) c.711A>G n.364A>G n.389A>G c.891A>G n.577A>G c.898A>G c.779A>G (p.Asp260Gly) c.710A>G (p.Asp237Gly) c.393A>G | |
19 | g.33401786T>G | CA405224346 | PEPD | c.902A>C (p.Asp301Ala) c.857A>C (p.Asp286Ala) c.953A>C (p.Asp318Ala) n.965A>C c.581A>C (p.Asp194Ala) c.944A>C (p.Asp315Ala) n.785A>C c.1152A>C c.639A>C (n.639A>C) c.711A>C n.364A>C n.389A>C c.891A>C n.577A>C c.898A>C c.779A>C (p.Asp260Ala) c.710A>C (p.Asp237Ala) c.393A>C | |
19 | g.33401787C>A | CA9364082 | PEPD | c.901G>T (p.Asp301Tyr) c.856G>T (p.Asp286Tyr) c.952G>T (p.Asp318Tyr) n.964G>T c.580G>T (p.Asp194Tyr) c.943G>T (p.Asp315Tyr) n.784G>T c.1151G>T c.638G>T (n.638G>T) c.710G>T n.363G>T n.388G>T c.890G>T n.576G>T c.897G>T c.778G>T (p.Asp260Tyr) c.709G>T (p.Asp237Tyr) c.392G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401787C= | CA2332706111 | PEPD | c.901G= (p.Asp301=) c.856G= (p.Asp286=) c.952G= (p.Asp318=) n.964G= c.580G= (p.Asp194=) c.943G= (p.Asp315=) n.784G= c.1151G= c.638G= (n.638G=) c.710G= n.363G= n.388G= c.890G= n.576G= c.897G= c.778G= (p.Asp260=) c.709G= (p.Asp237=) c.392G= | |
19 | g.33401787C>G | CA405224350 | PEPD | c.901G>C (p.Asp301His) c.856G>C (p.Asp286His) c.952G>C (p.Asp318His) n.964G>C c.580G>C (p.Asp194His) c.943G>C (p.Asp315His) n.784G>C c.1151G>C c.638G>C (n.638G>C) c.710G>C n.363G>C n.388G>C c.890G>C n.576G>C c.897G>C c.778G>C (p.Asp260His) c.709G>C (p.Asp237His) c.392G>C | |
19 | g.33401787C>T | CA405224348 | PEPD | c.901G>A (p.Asp301Asn) c.856G>A (p.Asp286Asn) c.952G>A (p.Asp318Asn) n.964G>A c.580G>A (p.Asp194Asn) c.943G>A (p.Asp315Asn) n.784G>A c.1151G>A c.638G>A (n.638G>A) c.710G>A n.363G>A n.388G>A c.890G>A n.576G>A c.897G>A c.778G>A (p.Asp260Asn) c.709G>A (p.Asp237Asn) c.392G>A | |
19 | g.33401788T>A | CA506687951 | PEPD | c.900A>T (p.Ala300=) c.855A>T (p.Ala285=) c.951A>T (p.Ala317=) n.963A>T c.579A>T (p.Ala193=) c.942A>T (p.Ala314=) n.783A>T c.1150A>T c.637A>T (n.637A>T) c.709A>T n.362A>T n.387A>T c.889A>T n.575A>T c.896A>T c.777A>T (p.Ala259=) c.708A>T (p.Ala236=) c.391A>T | |
19 | g.33401788T>C | CA506687953 | PEPD | c.900A>G (p.Ala300=) c.855A>G (p.Ala285=) c.951A>G (p.Ala317=) n.963A>G c.579A>G (p.Ala193=) c.942A>G (p.Ala314=) n.783A>G c.1150A>G c.637A>G (n.637A>G) c.709A>G n.362A>G n.387A>G c.889A>G n.575A>G c.896A>G c.777A>G (p.Ala259=) c.708A>G (p.Ala236=) c.391A>G | |
19 | g.33401788T>G | CA506687955 | PEPD | c.900A>C (p.Ala300=) c.855A>C (p.Ala285=) c.951A>C (p.Ala317=) n.963A>C c.579A>C (p.Ala193=) c.942A>C (p.Ala314=) n.783A>C c.1150A>C c.637A>C (n.637A>C) c.709A>C n.362A>C n.387A>C c.889A>C n.575A>C c.896A>C c.777A>C (p.Ala259=) c.708A>C (p.Ala236=) c.391A>C | |
19 | g.33401789G>A | CA405224355 | PEPD | c.899C>T (p.Ala300Val) c.854C>T (p.Ala285Val) c.950C>T (p.Ala317Val) n.962C>T c.578C>T (p.Ala193Val) c.941C>T (p.Ala314Val) n.782C>T c.1149C>T c.636C>T (n.636C>T) c.708C>T n.361C>T n.386C>T c.888C>T n.574C>T c.895C>T c.776C>T (p.Ala259Val) c.707C>T (p.Ala236Val) c.390C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.33401789G>C | CA405224358 | PEPD | c.899C>G (p.Ala300Gly) c.854C>G (p.Ala285Gly) c.950C>G (p.Ala317Gly) n.962C>G c.578C>G (p.Ala193Gly) c.941C>G (p.Ala314Gly) n.782C>G c.1149C>G c.636C>G (n.636C>G) c.708C>G n.361C>G n.386C>G c.888C>G n.574C>G c.895C>G c.776C>G (p.Ala259Gly) c.707C>G (p.Ala236Gly) c.390C>G | |
19 | g.33401789G= | CA2332706112 | PEPD | c.899C= (p.Ala300=) c.854C= (p.Ala285=) c.950C= (p.Ala317=) n.962C= c.578C= (p.Ala193=) c.941C= (p.Ala314=) n.782C= c.1149C= c.636C= (n.636C=) c.708C= n.361C= n.386C= c.888C= n.574C= c.895C= c.776C= (p.Ala259=) c.707C= (p.Ala236=) c.390C= | |
19 | g.33401789G>T | CA405224362 | PEPD | c.899C>A (p.Ala300Glu) c.854C>A (p.Ala285Glu) c.950C>A (p.Ala317Glu) n.962C>A c.578C>A (p.Ala193Glu) c.941C>A (p.Ala314Glu) n.782C>A c.1149C>A c.636C>A (n.636C>A) c.708C>A n.361C>A n.386C>A c.888C>A n.574C>A c.895C>A c.776C>A (p.Ala259Glu) c.707C>A (p.Ala236Glu) c.390C>A | |
19 | g.33401790C>A | CA405224365 | PEPD | c.898G>T (p.Ala300Ser) c.853G>T (p.Ala285Ser) c.949G>T (p.Ala317Ser) n.961G>T c.577G>T (p.Ala193Ser) c.940G>T (p.Ala314Ser) n.781G>T c.1148G>T c.635G>T (n.635G>T) c.707G>T n.360G>T n.385G>T c.586G>T c.887G>T n.573G>T c.894G>T c.775G>T (p.Ala259Ser) c.706G>T (p.Ala236Ser) c.389G>T | |
19 | g.33401790C>G | CA405224367 | PEPD | c.898G>C (p.Ala300Pro) c.853G>C (p.Ala285Pro) c.949G>C (p.Ala317Pro) n.961G>C c.577G>C (p.Ala193Pro) c.940G>C (p.Ala314Pro) n.781G>C c.1148G>C c.635G>C (n.635G>C) c.707G>C n.360G>C n.385G>C c.586G>C c.887G>C n.573G>C c.894G>C c.775G>C (p.Ala259Pro) c.706G>C (p.Ala236Pro) c.389G>C | |
19 | g.33401790C>T | CA405224370 | PEPD | c.898G>A (p.Ala300Thr) c.853G>A (p.Ala285Thr) c.949G>A (p.Ala317Thr) n.961G>A c.577G>A (p.Ala193Thr) c.940G>A (p.Ala314Thr) n.781G>A c.1148G>A c.635G>A (n.635G>A) c.707G>A n.360G>A n.385G>A c.586G>A c.887G>A n.573G>A c.894G>A c.775G>A (p.Ala259Thr) c.706G>A (p.Ala236Thr) c.389G>A | gnomAD v4 |
19 | g.33401791A>C | CA506687963 | PEPD | c.897T>G (p.Thr299=) c.852T>G (p.Thr284=) c.948T>G (p.Thr316=) n.960T>G c.576T>G (p.Thr192=) c.939T>G (p.Thr313=) n.780T>G c.1147T>G c.634T>G (n.634T>G) c.706T>G n.359T>G n.384T>G c.585T>G (p.Thr195=) c.886T>G n.572T>G c.893T>G c.774T>G (p.Thr258=) c.705T>G (p.Thr235=) c.388T>G | |
19 | g.33401791A>G | CA506687965 | PEPD | c.897T>C (p.Thr299=) c.852T>C (p.Thr284=) c.948T>C (p.Thr316=) n.960T>C c.576T>C (p.Thr192=) c.939T>C (p.Thr313=) n.780T>C c.1147T>C c.634T>C (n.634T>C) c.706T>C n.359T>C n.384T>C c.585T>C (p.Thr195=) c.886T>C n.572T>C c.893T>C c.774T>C (p.Thr258=) c.705T>C (p.Thr235=) c.388T>C | |
19 | g.33401791A>T | CA506687967 | PEPD | c.897T>A (p.Thr299=) c.852T>A (p.Thr284=) c.948T>A (p.Thr316=) n.960T>A c.576T>A (p.Thr192=) c.939T>A (p.Thr313=) n.780T>A c.1147T>A c.634T>A (n.634T>A) c.706T>A n.359T>A n.384T>A c.585T>A (p.Thr195=) c.886T>A n.572T>A c.893T>A c.774T>A (p.Thr258=) c.705T>A (p.Thr235=) c.388T>A | |
19 | g.33401792G>A | CA405224374 | PEPD | c.896C>T (p.Thr299Ile) c.851C>T (p.Thr284Ile) c.947C>T (p.Thr316Ile) n.959C>T c.575C>T (p.Thr192Ile) c.938C>T (p.Thr313Ile) n.779C>T c.1146C>T c.633C>T (n.633C>T) c.705C>T n.358C>T n.383C>T c.584C>T (p.Thr195Ile) c.885C>T n.571C>T c.892C>T c.773C>T (p.Thr258Ile) c.704C>T (p.Thr235Ile) c.387C>T | gnomAD v4 |
19 | g.33401792G>C | CA405224379 | PEPD | c.896C>G (p.Thr299Ser) c.851C>G (p.Thr284Ser) c.947C>G (p.Thr316Ser) n.959C>G c.575C>G (p.Thr192Ser) c.938C>G (p.Thr313Ser) n.779C>G c.1146C>G c.633C>G (n.633C>G) c.705C>G n.358C>G n.383C>G c.584C>G (p.Thr195Ser) c.885C>G n.571C>G c.892C>G c.773C>G (p.Thr258Ser) c.704C>G (p.Thr235Ser) c.387C>G | |
19 | g.33401792G>T | CA405224377 | PEPD | c.896C>A (p.Thr299Asn) c.851C>A (p.Thr284Asn) c.947C>A (p.Thr316Asn) n.959C>A c.575C>A (p.Thr192Asn) c.938C>A (p.Thr313Asn) n.779C>A c.1146C>A c.633C>A (n.633C>A) c.705C>A n.358C>A n.383C>A c.584C>A (p.Thr195Asn) c.885C>A n.571C>A c.892C>A c.773C>A (p.Thr258Asn) c.704C>A (p.Thr235Asn) c.387C>A | |
19 | g.33401793T>A | CA405224382 | PEPD | c.895A>T (p.Thr299Ser) c.850A>T (p.Thr284Ser) c.946A>T (p.Thr316Ser) n.958A>T c.574A>T (p.Thr192Ser) c.937A>T (p.Thr313Ser) n.778A>T c.1145A>T c.632A>T (n.632A>T) c.704A>T n.357A>T n.382A>T c.583A>T (p.Thr195Ser) c.884A>T n.570A>T c.891A>T c.772A>T (p.Thr258Ser) c.703A>T (p.Thr235Ser) c.386A>T | ClinVar dbSNP |
19 | g.33401793T>C | CA405224384 | PEPD | c.895A>G (p.Thr299Ala) c.850A>G (p.Thr284Ala) c.946A>G (p.Thr316Ala) n.958A>G c.574A>G (p.Thr192Ala) c.937A>G (p.Thr313Ala) n.778A>G c.1145A>G c.632A>G (n.632A>G) c.704A>G n.357A>G n.382A>G c.583A>G (p.Thr195Ala) c.884A>G n.570A>G c.891A>G c.772A>G (p.Thr258Ala) c.703A>G (p.Thr235Ala) c.386A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.33401793T>G | CA405224387 | PEPD | c.895A>C (p.Thr299Pro) c.850A>C (p.Thr284Pro) c.946A>C (p.Thr316Pro) n.958A>C c.574A>C (p.Thr192Pro) c.937A>C (p.Thr313Pro) n.778A>C c.1145A>C c.632A>C (n.632A>C) c.704A>C n.357A>C n.382A>C c.583A>C (p.Thr195Pro) c.884A>C n.570A>C c.891A>C c.772A>C (p.Thr258Pro) c.703A>C (p.Thr235Pro) c.386A>C | |
19 | g.33401793T= | CA2332706113 | PEPD | c.895A= (p.Thr299=) c.850A= (p.Thr284=) c.946A= (p.Thr316=) n.958A= c.574A= (p.Thr192=) c.937A= (p.Thr313=) n.778A= c.1145A= c.632A= (n.632A=) c.704A= n.357A= n.382A= c.583A= (p.Thr195=) c.884A= n.570A= c.891A= c.772A= (p.Thr258=) c.703A= (p.Thr235=) c.386A= | |
19 | g.33401794G>A | CA506687976 | PEPD | c.894C>T (p.Phe298=) c.849C>T (p.Phe283=) c.945C>T (p.Phe315=) n.957C>T c.573C>T (p.Phe191=) c.936C>T (p.Phe312=) n.777C>T c.1144C>T c.631C>T (n.631C>T) c.703C>T n.356C>T n.381C>T c.582C>T (p.Phe194=) c.883C>T n.569C>T c.890C>T c.771C>T (p.Phe257=) c.702C>T (p.Phe234=) c.385C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.33401794G>C | CA405224389 | PEPD | c.894C>G (p.Phe298Leu) c.849C>G (p.Phe283Leu) c.945C>G (p.Phe315Leu) n.957C>G c.573C>G (p.Phe191Leu) c.936C>G (p.Phe312Leu) n.777C>G c.1144C>G c.631C>G (n.631C>G) c.703C>G n.356C>G n.381C>G c.582C>G (p.Phe194Leu) c.883C>G n.569C>G c.890C>G c.771C>G (p.Phe257Leu) c.702C>G (p.Phe234Leu) c.385C>G | |
19 | g.33401794G= | CA2332706114 | PEPD | c.894C= (p.Phe298=) c.849C= (p.Phe283=) c.945C= (p.Phe315=) n.957C= c.573C= (p.Phe191=) c.936C= (p.Phe312=) n.777C= c.1144C= c.631C= (n.631C=) c.703C= n.356C= n.381C= c.582C= (p.Phe194=) c.883C= n.569C= c.890C= c.771C= (p.Phe257=) c.702C= (p.Phe234=) c.385C= | |
19 | g.33401794G>T | CA405224392 | PEPD | c.894C>A (p.Phe298Leu) c.849C>A (p.Phe283Leu) c.945C>A (p.Phe315Leu) n.957C>A c.573C>A (p.Phe191Leu) c.936C>A (p.Phe312Leu) n.777C>A c.1144C>A c.631C>A (n.631C>A) c.703C>A n.356C>A n.381C>A c.582C>A (p.Phe194Leu) c.883C>A n.569C>A c.890C>A c.771C>A (p.Phe257Leu) c.702C>A (p.Phe234Leu) c.385C>A | |
19 | g.33401795A>C | CA405224399 | PEPD | c.893T>G (p.Phe298Cys) c.848T>G (p.Phe283Cys) c.944T>G (p.Phe315Cys) n.956T>G c.572T>G (p.Phe191Cys) c.935T>G (p.Phe312Cys) n.776T>G c.1143T>G c.630T>G (n.630T>G) c.702T>G n.355T>G n.380T>G c.581T>G (p.Phe194Cys) c.882T>G n.568T>G c.889T>G c.770T>G (p.Phe257Cys) c.701T>G (p.Phe234Cys) c.384T>G | |
19 | g.33401795A>G | CA405224401 | PEPD | c.893T>C (p.Phe298Ser) c.848T>C (p.Phe283Ser) c.944T>C (p.Phe315Ser) n.956T>C c.572T>C (p.Phe191Ser) c.935T>C (p.Phe312Ser) n.776T>C c.1143T>C c.630T>C (n.630T>C) c.702T>C n.355T>C n.380T>C c.581T>C (p.Phe194Ser) c.882T>C n.568T>C c.889T>C c.770T>C (p.Phe257Ser) c.701T>C (p.Phe234Ser) c.384T>C | |
19 | g.33401795A>T | CA405224403 | PEPD | c.893T>A (p.Phe298Tyr) c.848T>A (p.Phe283Tyr) c.944T>A (p.Phe315Tyr) n.956T>A c.572T>A (p.Phe191Tyr) c.935T>A (p.Phe312Tyr) n.776T>A c.1143T>A c.630T>A (n.630T>A) c.702T>A n.355T>A n.380T>A c.581T>A (p.Phe194Tyr) c.882T>A n.568T>A c.889T>A c.770T>A (p.Phe257Tyr) c.701T>A (p.Phe234Tyr) c.384T>A | |
19 | g.33401796A= | CA2332706115 | PEPD | c.892T= (p.Phe298=) c.847T= (p.Phe283=) c.943T= (p.Phe315=) n.955T= c.571T= (p.Phe191=) c.934T= (p.Phe312=) n.775T= c.1142T= c.629T= (n.629T=) c.701T= n.354T= n.379T= c.580T= (p.Phe194=) c.881T= n.567T= c.888T= c.769T= (p.Phe257=) c.700T= (p.Phe234=) c.383T= | |
19 | g.33401796A>C | CA9364083 | PEPD | c.892T>G (p.Phe298Val) c.847T>G (p.Phe283Val) c.943T>G (p.Phe315Val) n.955T>G c.571T>G (p.Phe191Val) c.934T>G (p.Phe312Val) n.775T>G c.1142T>G c.629T>G (n.629T>G) c.701T>G n.354T>G n.379T>G c.580T>G (p.Phe194Val) c.881T>G n.567T>G c.888T>G c.769T>G (p.Phe257Val) c.700T>G (p.Phe234Val) c.383T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401796A>G | CA405224414 | PEPD | c.892T>C (p.Phe298Leu) c.847T>C (p.Phe283Leu) c.943T>C (p.Phe315Leu) n.955T>C c.571T>C (p.Phe191Leu) c.934T>C (p.Phe312Leu) n.775T>C c.1142T>C c.629T>C (n.629T>C) c.701T>C n.354T>C n.379T>C c.580T>C (p.Phe194Leu) c.881T>C n.567T>C c.888T>C c.769T>C (p.Phe257Leu) c.700T>C (p.Phe234Leu) c.383T>C | |
19 | g.33401796A>T | CA405224418 | PEPD | c.892T>A (p.Phe298Ile) c.847T>A (p.Phe283Ile) c.943T>A (p.Phe315Ile) n.955T>A c.571T>A (p.Phe191Ile) c.934T>A (p.Phe312Ile) n.775T>A c.1142T>A c.629T>A (n.629T>A) c.701T>A n.354T>A n.379T>A c.580T>A (p.Phe194Ile) c.881T>A n.567T>A c.888T>A c.769T>A (p.Phe257Ile) c.700T>A (p.Phe234Ile) c.383T>A | |
19 | g.33401797C>A | CA405224423 | PEPD | c.891G>T (p.Lys297Asn) c.846G>T (p.Lys282Asn) c.942G>T (p.Lys314Asn) n.954G>T c.570G>T (p.Lys190Asn) c.933G>T (p.Lys311Asn) n.774G>T c.1141G>T c.628G>T (n.628G>T) c.700G>T n.353G>T n.378G>T c.579G>T (p.Lys193Asn) c.880G>T n.566G>T c.887G>T c.768G>T (p.Lys256Asn) c.699G>T (p.Lys233Asn) c.382G>T | |
19 | g.33401797C>G | CA405224425 | PEPD | c.891G>C (p.Lys297Asn) c.846G>C (p.Lys282Asn) c.942G>C (p.Lys314Asn) n.954G>C c.570G>C (p.Lys190Asn) c.933G>C (p.Lys311Asn) n.774G>C c.1141G>C c.628G>C (n.628G>C) c.700G>C n.353G>C n.378G>C c.579G>C (p.Lys193Asn) c.880G>C n.566G>C c.887G>C c.768G>C (p.Lys256Asn) c.699G>C (p.Lys233Asn) c.382G>C | |
19 | g.33401797C>T | CA506687988 | PEPD | c.891G>A (p.Lys297=) c.846G>A (p.Lys282=) c.942G>A (p.Lys314=) n.954G>A c.570G>A (p.Lys190=) c.933G>A (p.Lys311=) n.774G>A c.1141G>A c.628G>A (n.628G>A) c.700G>A n.353G>A n.378G>A c.579G>A (p.Lys193=) c.880G>A n.566G>A c.887G>A c.768G>A (p.Lys256=) c.699G>A (p.Lys233=) c.382G>A | gnomAD v4 |
19 | g.33401798T>A | CA405224429 | PEPD | c.890A>T (p.Lys297Met) c.845A>T (p.Lys282Met) c.941A>T (p.Lys314Met) n.953A>T c.569A>T (p.Lys190Met) c.932A>T (p.Lys311Met) n.773A>T c.1140A>T c.627A>T (n.627A>T) c.699A>T n.352A>T n.377A>T c.578A>T (p.Lys193Met) c.879A>T n.565A>T c.886A>T c.767A>T (p.Lys256Met) c.698A>T (p.Lys233Met) c.381A>T | |
19 | g.33401798T>C | CA405224431 | PEPD | c.890A>G (p.Lys297Arg) c.845A>G (p.Lys282Arg) c.941A>G (p.Lys314Arg) n.953A>G c.569A>G (p.Lys190Arg) c.932A>G (p.Lys311Arg) n.773A>G c.1140A>G c.627A>G (n.627A>G) c.699A>G n.352A>G n.377A>G c.578A>G (p.Lys193Arg) c.879A>G n.565A>G c.886A>G c.767A>G (p.Lys256Arg) c.698A>G (p.Lys233Arg) c.381A>G | gnomAD v4 |
19 | g.33401798T>G | CA405224427 | PEPD | c.890A>C (p.Lys297Thr) c.845A>C (p.Lys282Thr) c.941A>C (p.Lys314Thr) n.953A>C c.569A>C (p.Lys190Thr) c.932A>C (p.Lys311Thr) n.773A>C c.1140A>C c.627A>C (n.627A>C) c.699A>C n.352A>C n.377A>C c.578A>C (p.Lys193Thr) c.879A>C n.565A>C c.886A>C c.767A>C (p.Lys256Thr) c.698A>C (p.Lys233Thr) c.381A>C | |
19 | g.33401799T>A | CA405224438 | PEPD | c.889A>T (p.Lys297Ter) c.844A>T (p.Lys282Ter) c.940A>T (p.Lys314Ter) n.952A>T c.568A>T (p.Lys190Ter) c.931A>T (p.Lys311Ter) n.772A>T c.1139A>T c.626A>T (n.626A>T) c.698A>T n.351A>T n.376A>T c.577A>T (p.Lys193Ter) c.878A>T n.564A>T c.885A>T c.766A>T (p.Lys256Ter) c.697A>T (p.Lys233Ter) c.380A>T | |
19 | g.33401799T>C | CA405224433 | PEPD | c.889A>G (p.Lys297Glu) c.844A>G (p.Lys282Glu) c.940A>G (p.Lys314Glu) n.952A>G c.568A>G (p.Lys190Glu) c.931A>G (p.Lys311Glu) n.772A>G c.1139A>G c.626A>G (n.626A>G) c.698A>G n.351A>G n.376A>G c.577A>G (p.Lys193Glu) c.878A>G n.564A>G c.885A>G c.766A>G (p.Lys256Glu) c.697A>G (p.Lys233Glu) c.380A>G | |
19 | g.33401799T>G | CA405224436 | PEPD | c.889A>C (p.Lys297Gln) c.844A>C (p.Lys282Gln) c.940A>C (p.Lys314Gln) n.952A>C c.568A>C (p.Lys190Gln) c.931A>C (p.Lys311Gln) n.772A>C c.1139A>C c.626A>C (n.626A>C) c.698A>C n.351A>C n.376A>C c.577A>C (p.Lys193Gln) c.878A>C n.564A>C c.885A>C c.766A>C (p.Lys256Gln) c.697A>C (p.Lys233Gln) c.380A>C | |
19 | g.33401799T= | CA2332706116 | PEPD | c.889A= (p.Lys297=) c.844A= (p.Lys282=) c.940A= (p.Lys314=) n.952A= c.568A= (p.Lys190=) c.931A= (p.Lys311=) n.772A= c.1139A= c.626A= (n.626A=) c.698A= n.351A= n.376A= c.577A= (p.Lys193=) c.878A= n.564A= c.885A= c.766A= (p.Lys256=) c.697A= (p.Lys233=) c.380A= | |
19 | g.33401799_33401800insTCTC | CA9364084 | PEPD | c.888_889insGAGA (p.Lys297GlufsTer12) c.843_844insGAGA (p.Lys282GlufsTer12) c.939_940insGAGA (p.Lys314GlufsTer12) n.951_952insGAGA c.567_568insGAGA (p.Lys190GlufsTer12) c.930_931insGAGA (p.Lys311GlufsTer12) n.771_772insGAGA c.1138_1139insGAGA c.625_626insGAGA (n.625_626insGAGA) c.697_698insGAGA n.350_351insGAGA n.375_376insGAGA c.576_577insGAGA (p.Lys193GlufsTer?) c.877_878insGAGA n.563_564insGAGA c.884_885insGAGA c.765_766insGAGA (p.Lys256GlufsTer12) c.696_697insGAGA (p.Lys233GlufsTer12) c.379_380insGAGA | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.33401800G>A | CA506687999 | PEPD | c.888C>T (p.Gly296=) c.843C>T (p.Gly281=) c.939C>T (p.Gly313=) n.951C>T c.567C>T (p.Gly189=) c.930C>T (p.Gly310=) n.771C>T c.1138C>T c.625C>T (n.625C>T) c.697C>T n.350C>T n.375C>T c.576C>T (p.Gly192=) c.877C>T n.563C>T c.884C>T c.765C>T (p.Gly255=) c.696C>T (p.Gly232=) c.379C>T | |
19 | g.33401800G>C | CA506688001 | PEPD | c.888C>G (p.Gly296=) c.843C>G (p.Gly281=) c.939C>G (p.Gly313=) n.951C>G c.567C>G (p.Gly189=) c.930C>G (p.Gly310=) n.771C>G c.1138C>G c.625C>G (n.625C>G) c.697C>G n.350C>G n.375C>G c.576C>G (p.Gly192=) c.877C>G n.563C>G c.884C>G c.765C>G (p.Gly255=) c.696C>G (p.Gly232=) c.379C>G | |
19 | g.33401800G>T | CA506688002 | PEPD | c.888C>A (p.Gly296=) c.843C>A (p.Gly281=) c.939C>A (p.Gly313=) n.951C>A c.567C>A (p.Gly189=) c.930C>A (p.Gly310=) n.771C>A c.1138C>A c.625C>A (n.625C>A) c.697C>A n.350C>A n.375C>A c.576C>A (p.Gly192=) c.877C>A n.563C>A c.884C>A c.765C>A (p.Gly255=) c.696C>A (p.Gly232=) c.379C>A | |
19 | g.33401801C>A | CA405224443 | PEPD | c.887G>T (p.Gly296Val) c.842G>T (p.Gly281Val) c.938G>T (p.Gly313Val) n.950G>T c.566G>T (p.Gly189Val) c.929G>T (p.Gly310Val) n.770G>T c.1137G>T c.624G>T (n.624G>T) c.696G>T n.349G>T n.374G>T c.575G>T (p.Gly192Val) c.876G>T n.562G>T c.883G>T c.764G>T (p.Gly255Val) c.695G>T (p.Gly232Val) c.378G>T | dbSNP gnomAD v4 |
19 | g.33401801C= | CA2332706117 | PEPD | c.887G= (p.Gly296=) c.842G= (p.Gly281=) c.938G= (p.Gly313=) n.950G= c.566G= (p.Gly189=) c.929G= (p.Gly310=) n.770G= c.1137G= c.624G= (n.624G=) c.696G= n.349G= n.374G= c.575G= (p.Gly192=) c.876G= n.562G= c.883G= c.764G= (p.Gly255=) c.695G= (p.Gly232=) c.378G= | |
19 | g.33401801C>G | CA405224444 | PEPD | c.887G>C (p.Gly296Ala) c.842G>C (p.Gly281Ala) c.938G>C (p.Gly313Ala) n.950G>C c.566G>C (p.Gly189Ala) c.929G>C (p.Gly310Ala) n.770G>C c.1137G>C c.624G>C (n.624G>C) c.696G>C n.349G>C n.374G>C c.575G>C (p.Gly192Ala) c.876G>C n.562G>C c.883G>C c.764G>C (p.Gly255Ala) c.695G>C (p.Gly232Ala) c.378G>C | |
19 | g.33401801C>T | CA405224445 | PEPD | c.887G>A (p.Gly296Asp) c.842G>A (p.Gly281Asp) c.938G>A (p.Gly313Asp) n.950G>A c.566G>A (p.Gly189Asp) c.929G>A (p.Gly310Asp) n.770G>A c.1137G>A c.624G>A (n.624G>A) c.696G>A n.349G>A n.374G>A c.575G>A (p.Gly192Asp) c.876G>A n.562G>A c.883G>A c.764G>A (p.Gly255Asp) c.695G>A (p.Gly232Asp) c.378G>A | |
19 | g.33401802C>A | CA405224448 | PEPD | c.886G>T (p.Gly296Cys) c.841G>T (p.Gly281Cys) c.937G>T (p.Gly313Cys) n.949G>T c.565G>T (p.Gly189Cys) c.928G>T (p.Gly310Cys) n.769G>T c.1136G>T c.623G>T (n.623G>T) c.695G>T n.348G>T n.373G>T c.574G>T (p.Gly192Cys) c.875G>T n.561G>T c.882G>T c.763G>T (p.Gly255Cys) c.694G>T (p.Gly232Cys) c.377G>T | gnomAD v4 |
19 | g.33401802C= | CA2332706118 | PEPD | c.886G= (p.Gly296=) c.841G= (p.Gly281=) c.937G= (p.Gly313=) n.949G= c.565G= (p.Gly189=) c.928G= (p.Gly310=) n.769G= c.1136G= c.623G= (n.623G=) c.695G= n.348G= n.373G= c.574G= (p.Gly192=) c.875G= n.561G= c.882G= c.763G= (p.Gly255=) c.694G= (p.Gly232=) c.377G= | |
19 | g.33401802C>G | CA405224451 | PEPD | c.886G>C (p.Gly296Arg) c.841G>C (p.Gly281Arg) c.937G>C (p.Gly313Arg) n.949G>C c.565G>C (p.Gly189Arg) c.928G>C (p.Gly310Arg) n.769G>C c.1136G>C c.623G>C (n.623G>C) c.695G>C n.348G>C n.373G>C c.574G>C (p.Gly192Arg) c.875G>C n.561G>C c.882G>C c.763G>C (p.Gly255Arg) c.694G>C (p.Gly232Arg) c.377G>C | |
19 | g.33401802C>T | CA9364085 | PEPD | c.886G>A (p.Gly296Ser) c.841G>A (p.Gly281Ser) c.937G>A (p.Gly313Ser) n.949G>A c.565G>A (p.Gly189Ser) c.928G>A (p.Gly310Ser) n.769G>A c.1136G>A c.623G>A (n.623G>A) c.695G>A n.348G>A n.373G>A c.574G>A (p.Gly192Ser) c.875G>A n.561G>A c.882G>A c.763G>A (p.Gly255Ser) c.694G>A (p.Gly232Ser) c.377G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401803G>A | CA9364086 | PEPD | c.885C>T (p.Asn295=) c.840C>T (p.Asn280=) c.936C>T (p.Asn312=) n.948C>T c.564C>T (p.Asn188=) c.927C>T (p.Asn309=) n.768C>T c.1135C>T c.622C>T (n.622C>T) c.694C>T n.347C>T n.372C>T c.573C>T (p.Asn191=) c.874C>T n.560C>T c.881C>T c.762C>T (p.Asn254=) c.693C>T (p.Asn231=) c.376C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.33401803G>C | CA405224458 | PEPD | c.885C>G (p.Asn295Lys) c.840C>G (p.Asn280Lys) c.936C>G (p.Asn312Lys) n.948C>G c.564C>G (p.Asn188Lys) c.927C>G (p.Asn309Lys) n.768C>G c.1135C>G c.622C>G (n.622C>G) c.694C>G n.347C>G n.372C>G c.573C>G (p.Asn191Lys) c.874C>G n.560C>G c.881C>G c.762C>G (p.Asn254Lys) c.693C>G (p.Asn231Lys) c.376C>G | |
19 | g.33401803G= | CA2332706119 | PEPD | c.885C= (p.Asn295=) c.840C= (p.Asn280=) c.936C= (p.Asn312=) n.948C= c.564C= (p.Asn188=) c.927C= (p.Asn309=) n.768C= c.1135C= c.622C= (n.622C=) c.694C= n.347C= n.372C= c.573C= (p.Asn191=) c.874C= n.560C= c.881C= c.762C= (p.Asn254=) c.693C= (p.Asn231=) c.376C= | |
19 | g.33401803G>T | CA405224464 | PEPD | c.885C>A (p.Asn295Lys) c.840C>A (p.Asn280Lys) c.936C>A (p.Asn312Lys) n.948C>A c.564C>A (p.Asn188Lys) c.927C>A (p.Asn309Lys) n.768C>A c.1135C>A c.622C>A (n.622C>A) c.694C>A n.347C>A n.372C>A c.573C>A (p.Asn191Lys) c.874C>A n.560C>A c.881C>A c.762C>A (p.Asn254Lys) c.693C>A (p.Asn231Lys) c.376C>A | |
19 | g.33401804T>A | CA405224473 | PEPD | c.884A>T (p.Asn295Ile) c.839A>T (p.Asn280Ile) c.935A>T (p.Asn312Ile) n.947A>T c.563A>T (p.Asn188Ile) c.926A>T (p.Asn309Ile) n.767A>T c.1134A>T c.621A>T (n.621A>T) c.693A>T n.346A>T n.371A>T c.572A>T (p.Asn191Ile) c.873A>T n.559A>T c.880A>T c.761A>T (p.Asn254Ile) c.692A>T (p.Asn231Ile) c.375A>T | |
19 | g.33401804T>C | CA405224470 | PEPD | c.884A>G (p.Asn295Ser) c.839A>G (p.Asn280Ser) c.935A>G (p.Asn312Ser) n.947A>G c.563A>G (p.Asn188Ser) c.926A>G (p.Asn309Ser) n.767A>G c.1134A>G c.621A>G (n.621A>G) c.693A>G n.346A>G n.371A>G c.572A>G (p.Asn191Ser) c.873A>G n.559A>G c.880A>G c.761A>G (p.Asn254Ser) c.692A>G (p.Asn231Ser) c.375A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401804T>G | CA405224468 | PEPD | c.884A>C (p.Asn295Thr) c.839A>C (p.Asn280Thr) c.935A>C (p.Asn312Thr) n.947A>C c.563A>C (p.Asn188Thr) c.926A>C (p.Asn309Thr) n.767A>C c.1134A>C c.621A>C (n.621A>C) c.693A>C n.346A>C n.371A>C c.572A>C (p.Asn191Thr) c.873A>C n.559A>C c.880A>C c.761A>C (p.Asn254Thr) c.692A>C (p.Asn231Thr) c.375A>C | |
19 | g.33401804T= | CA2332706120 | PEPD | c.884A= (p.Asn295=) c.839A= (p.Asn280=) c.935A= (p.Asn312=) n.947A= c.563A= (p.Asn188=) c.926A= (p.Asn309=) n.767A= c.1134A= c.621A= (n.621A=) c.693A= n.346A= n.371A= c.572A= (p.Asn191=) c.873A= n.559A= c.880A= c.761A= (p.Asn254=) c.692A= (p.Asn231=) c.375A= | |
19 | g.33401805T>A | CA405224484 | PEPD | c.883A>T (p.Asn295Tyr) c.838A>T (p.Asn280Tyr) c.934A>T (p.Asn312Tyr) n.946A>T c.562A>T (p.Asn188Tyr) c.925A>T (p.Asn309Tyr) n.766A>T c.1133A>T c.620A>T (n.620A>T) c.692A>T n.345A>T n.370A>T c.571A>T (p.Asn191Tyr) c.872A>T n.558A>T c.879A>T c.760A>T (p.Asn254Tyr) c.691A>T (p.Asn231Tyr) c.374A>T | |
19 | g.33401805T>C | CA405224487 | PEPD | c.883A>G (p.Asn295Asp) c.838A>G (p.Asn280Asp) c.934A>G (p.Asn312Asp) n.946A>G c.562A>G (p.Asn188Asp) c.925A>G (p.Asn309Asp) n.766A>G c.1133A>G c.620A>G (n.620A>G) c.692A>G n.345A>G n.370A>G c.571A>G (p.Asn191Asp) c.872A>G n.558A>G c.879A>G c.760A>G (p.Asn254Asp) c.691A>G (p.Asn231Asp) c.374A>G | |
19 | g.33401805T>G | CA405224490 | PEPD | c.883A>C (p.Asn295His) c.838A>C (p.Asn280His) c.934A>C (p.Asn312His) n.946A>C c.562A>C (p.Asn188His) c.925A>C (p.Asn309His) n.766A>C c.1133A>C c.620A>C (n.620A>C) c.692A>C n.345A>C n.370A>C c.571A>C (p.Asn191His) c.872A>C n.558A>C c.879A>C c.760A>C (p.Asn254His) c.691A>C (p.Asn231His) c.374A>C | |
19 | g.33401806G>A | CA506688020 | PEPD | c.882C>T (p.Ala294=) c.837C>T (p.Ala279=) c.933C>T (p.Ala311=) n.945C>T c.561C>T (p.Ala187=) c.924C>T (p.Ala308=) n.765C>T c.1132C>T c.619C>T (n.619C>T) c.691C>T n.344C>T n.369C>T c.570C>T (p.Ala190=) c.871C>T n.557C>T c.878C>T c.759C>T (p.Ala253=) c.690C>T (p.Ala230=) c.373C>T | |
19 | g.33401806G>C | CA506688021 | PEPD | c.882C>G (p.Ala294=) c.837C>G (p.Ala279=) c.933C>G (p.Ala311=) n.945C>G c.561C>G (p.Ala187=) c.924C>G (p.Ala308=) n.765C>G c.1132C>G c.619C>G (n.619C>G) c.691C>G n.344C>G n.369C>G c.570C>G (p.Ala190=) c.871C>G n.557C>G c.878C>G c.759C>G (p.Ala253=) c.690C>G (p.Ala230=) c.373C>G | |
19 | g.33401806G>T | CA506688023 | PEPD | c.882C>A (p.Ala294=) c.837C>A (p.Ala279=) c.933C>A (p.Ala311=) n.945C>A c.561C>A (p.Ala187=) c.924C>A (p.Ala308=) n.765C>A c.1132C>A c.619C>A (n.619C>A) c.691C>A n.344C>A n.369C>A c.570C>A (p.Ala190=) c.871C>A n.557C>A c.878C>A c.759C>A (p.Ala253=) c.690C>A (p.Ala230=) c.373C>A | |
19 | g.33401807G>A | CA405224493 | PEPD | c.881C>T (p.Ala294Val) c.836C>T (p.Ala279Val) c.932C>T (p.Ala311Val) n.944C>T c.560C>T (p.Ala187Val) c.923C>T (p.Ala308Val) n.764C>T c.1131C>T c.618C>T (n.618C>T) c.690C>T n.343C>T n.368C>T c.569C>T (p.Ala190Val) c.870C>T n.556C>T c.877C>T c.758C>T (p.Ala253Val) c.689C>T (p.Ala230Val) c.372C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.33401807G>C | CA405224495 | PEPD | c.881C>G (p.Ala294Gly) c.836C>G (p.Ala279Gly) c.932C>G (p.Ala311Gly) n.944C>G c.560C>G (p.Ala187Gly) c.923C>G (p.Ala308Gly) n.764C>G c.1131C>G c.618C>G (n.618C>G) c.690C>G n.343C>G n.368C>G c.569C>G (p.Ala190Gly) c.870C>G n.556C>G c.877C>G c.758C>G (p.Ala253Gly) c.689C>G (p.Ala230Gly) c.372C>G | ClinVar |
19 | g.33401807G= | CA2332706121 | PEPD | c.881C= (p.Ala294=) c.836C= (p.Ala279=) c.932C= (p.Ala311=) n.944C= c.560C= (p.Ala187=) c.923C= (p.Ala308=) n.764C= c.1131C= c.618C= (n.618C=) c.690C= n.343C= n.368C= c.569C= (p.Ala190=) c.870C= n.556C= c.877C= c.758C= (p.Ala253=) c.689C= (p.Ala230=) c.372C= | |
19 | g.33401807G>T | CA405224496 | PEPD | c.881C>A (p.Ala294Asp) c.836C>A (p.Ala279Asp) c.932C>A (p.Ala311Asp) n.944C>A c.560C>A (p.Ala187Asp) c.923C>A (p.Ala308Asp) n.764C>A c.1131C>A c.618C>A (n.618C>A) c.690C>A n.343C>A n.368C>A c.569C>A (p.Ala190Asp) c.870C>A n.556C>A c.877C>A c.758C>A (p.Ala253Asp) c.689C>A (p.Ala230Asp) c.372C>A | |
19 | g.33401808C>A | CA405224499 | PEPD | c.880G>T (p.Ala294Ser) c.835G>T (p.Ala279Ser) c.931G>T (p.Ala311Ser) n.943G>T c.559G>T (p.Ala187Ser) c.922G>T (p.Ala308Ser) n.763G>T c.1130G>T c.617G>T (n.617G>T) c.689G>T n.342G>T n.367G>T c.568G>T (p.Ala190Ser) c.869G>T n.555G>T c.876G>T c.757G>T (p.Ala253Ser) c.688G>T (p.Ala230Ser) c.371G>T n.1045G>T c.313G>T | |
19 | g.33401808C= | CA2332706122 | PEPD | c.880G= (p.Ala294=) c.835G= (p.Ala279=) c.931G= (p.Ala311=) n.943G= c.559G= (p.Ala187=) c.922G= (p.Ala308=) n.763G= c.1130G= c.617G= (n.617G=) c.689G= n.342G= n.367G= c.568G= (p.Ala190=) c.869G= n.555G= c.876G= c.757G= (p.Ala253=) c.688G= (p.Ala230=) c.371G= n.1045G= c.313G= | |
19 | g.33401808C>G | CA405224502 | PEPD | c.880G>C (p.Ala294Pro) c.835G>C (p.Ala279Pro) c.931G>C (p.Ala311Pro) n.943G>C c.559G>C (p.Ala187Pro) c.922G>C (p.Ala308Pro) n.763G>C c.1130G>C c.617G>C (n.617G>C) c.689G>C n.342G>C n.367G>C c.568G>C (p.Ala190Pro) c.869G>C n.555G>C c.876G>C c.757G>C (p.Ala253Pro) c.688G>C (p.Ala230Pro) c.371G>C n.1045G>C c.313G>C | |
19 | g.33401808C>T | CA9364087 | PEPD | c.880G>A (p.Ala294Thr) c.835G>A (p.Ala279Thr) c.931G>A (p.Ala311Thr) n.943G>A c.559G>A (p.Ala187Thr) c.922G>A (p.Ala308Thr) n.763G>A c.1130G>A c.617G>A (n.617G>A) c.689G>A n.342G>A n.367G>A c.568G>A (p.Ala190Thr) c.869G>A n.555G>A c.876G>A c.757G>A (p.Ala253Thr) c.688G>A (p.Ala230Thr) c.371G>A n.1045G>A c.313G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401809G>A | CA9364088 | PEPD | c.879C>T (p.Pro293=) c.834C>T (p.Pro278=) c.930C>T (p.Pro310=) n.942C>T c.558C>T (p.Pro186=) c.921C>T (p.Pro307=) n.762C>T c.1129C>T c.616C>T (n.616C>T) c.688C>T n.341C>T n.366C>T c.567C>T (p.Pro189=) c.868C>T n.554C>T c.875C>T c.756C>T (p.Pro252=) c.687C>T (p.Pro229=) c.370C>T n.1044C>T c.312C>T (p.Pro104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401809G>C | CA506688032 | PEPD | c.879C>G (p.Pro293=) c.834C>G (p.Pro278=) c.930C>G (p.Pro310=) n.942C>G c.558C>G (p.Pro186=) c.921C>G (p.Pro307=) n.762C>G c.1129C>G c.616C>G (n.616C>G) c.688C>G n.341C>G n.366C>G c.567C>G (p.Pro189=) c.868C>G n.554C>G c.875C>G c.756C>G (p.Pro252=) c.687C>G (p.Pro229=) c.370C>G n.1044C>G c.312C>G (p.Pro104=) | |
19 | g.33401809G= | CA2332706123 | PEPD | c.879C= (p.Pro293=) c.834C= (p.Pro278=) c.930C= (p.Pro310=) n.942C= c.558C= (p.Pro186=) c.921C= (p.Pro307=) n.762C= c.1129C= c.616C= (n.616C=) c.688C= n.341C= n.366C= c.567C= (p.Pro189=) c.868C= n.554C= c.875C= c.756C= (p.Pro252=) c.687C= (p.Pro229=) c.370C= n.1044C= c.312C= (p.Pro104=) | |
19 | g.33401809G>T | CA506688030 | PEPD | c.879C>A (p.Pro293=) c.834C>A (p.Pro278=) c.930C>A (p.Pro310=) n.942C>A c.558C>A (p.Pro186=) c.921C>A (p.Pro307=) n.762C>A c.1129C>A c.616C>A (n.616C>A) c.688C>A n.341C>A n.366C>A c.567C>A (p.Pro189=) c.868C>A n.554C>A c.875C>A c.756C>A (p.Pro252=) c.687C>A (p.Pro229=) c.370C>A n.1044C>A c.312C>A (p.Pro104=) | |
19 | g.33401810G>A | CA405224508 | PEPD | c.878C>T (p.Pro293Leu) c.833C>T (p.Pro278Leu) c.929C>T (p.Pro310Leu) n.941C>T c.557C>T (p.Pro186Leu) c.920C>T (p.Pro307Leu) n.761C>T c.1128C>T c.615C>T (n.615C>T) c.687C>T n.340C>T n.365C>T c.566C>T (p.Pro189Leu) c.867C>T n.553C>T c.874C>T c.755C>T (p.Pro252Leu) c.686C>T (p.Pro229Leu) c.369C>T n.1043C>T c.311C>T (p.Pro104Leu) | |
19 | g.33401810G>C | CA405224509 | PEPD | c.878C>G (p.Pro293Arg) c.833C>G (p.Pro278Arg) c.929C>G (p.Pro310Arg) n.941C>G c.557C>G (p.Pro186Arg) c.920C>G (p.Pro307Arg) n.761C>G c.1128C>G c.615C>G (n.615C>G) c.687C>G n.340C>G n.365C>G c.566C>G (p.Pro189Arg) c.867C>G n.553C>G c.874C>G c.755C>G (p.Pro252Arg) c.686C>G (p.Pro229Arg) c.369C>G n.1043C>G c.311C>G (p.Pro104Arg) | |
19 | g.33401810G>T | CA405224512 | PEPD | c.878C>A (p.Pro293His) c.833C>A (p.Pro278His) c.929C>A (p.Pro310His) n.941C>A c.557C>A (p.Pro186His) c.920C>A (p.Pro307His) n.761C>A c.1128C>A c.615C>A (n.615C>A) c.687C>A n.340C>A n.365C>A c.566C>A (p.Pro189His) c.867C>A n.553C>A c.874C>A c.755C>A (p.Pro252His) c.686C>A (p.Pro229His) c.369C>A n.1043C>A c.311C>A (p.Pro104His) | |
19 | g.33401811G>A | CA405224522 | PEPD | c.877C>T (p.Pro293Ser) c.832C>T (p.Pro278Ser) c.928C>T (p.Pro310Ser) n.940C>T c.556C>T (p.Pro186Ser) c.919C>T (p.Pro307Ser) n.760C>T c.1127C>T c.614C>T (n.614C>T) c.686C>T n.339C>T n.364C>T c.565C>T (p.Pro189Ser) c.866C>T n.552C>T c.873C>T c.754C>T (p.Pro252Ser) c.685C>T (p.Pro229Ser) c.368C>T n.1042C>T c.310C>T (p.Pro104Ser) | |
19 | g.33401811G>C | CA405224520 | PEPD | c.877C>G (p.Pro293Ala) c.832C>G (p.Pro278Ala) c.928C>G (p.Pro310Ala) n.940C>G c.556C>G (p.Pro186Ala) c.919C>G (p.Pro307Ala) n.760C>G c.1127C>G c.614C>G (n.614C>G) c.686C>G n.339C>G n.364C>G c.565C>G (p.Pro189Ala) c.866C>G n.552C>G c.873C>G c.754C>G (p.Pro252Ala) c.685C>G (p.Pro229Ala) c.368C>G n.1042C>G c.310C>G (p.Pro104Ala) | |
19 | g.33401811G>T | CA405224517 | PEPD | c.877C>A (p.Pro293Thr) c.832C>A (p.Pro278Thr) c.928C>A (p.Pro310Thr) n.940C>A c.556C>A (p.Pro186Thr) c.919C>A (p.Pro307Thr) n.760C>A c.1127C>A c.614C>A (n.614C>A) c.686C>A n.339C>A n.364C>A c.565C>A (p.Pro189Thr) c.866C>A n.552C>A c.873C>A c.754C>A (p.Pro252Thr) c.685C>A (p.Pro229Thr) c.368C>A n.1042C>A c.310C>A (p.Pro104Thr) | |
19 | g.33401812A>C | CA405224529 | PEPD | c.876T>G (p.Phe292Leu) c.831T>G (p.Phe277Leu) c.927T>G (p.Phe309Leu) n.939T>G c.555T>G (p.Phe185Leu) c.918T>G (p.Phe306Leu) n.759T>G c.1126T>G c.613T>G (n.613T>G) c.685T>G n.338T>G n.363T>G c.564T>G (p.Phe188Leu) c.865T>G n.551T>G c.872T>G c.753T>G (p.Phe251Leu) c.684T>G (p.Phe228Leu) c.367T>G n.1041T>G c.309T>G (p.Phe103Leu) | |
19 | g.33401812A>G | CA506688042 | PEPD | c.876T>C (p.Phe292=) c.831T>C (p.Phe277=) c.927T>C (p.Phe309=) n.939T>C c.555T>C (p.Phe185=) c.918T>C (p.Phe306=) n.759T>C c.1126T>C c.613T>C (n.613T>C) c.685T>C n.338T>C n.363T>C c.564T>C (p.Phe188=) c.865T>C n.551T>C c.872T>C c.753T>C (p.Phe251=) c.684T>C (p.Phe228=) c.367T>C n.1041T>C c.309T>C (p.Phe103=) | |
19 | g.33401812A>T | CA405224527 | PEPD | c.876T>A (p.Phe292Leu) c.831T>A (p.Phe277Leu) c.927T>A (p.Phe309Leu) n.939T>A c.555T>A (p.Phe185Leu) c.918T>A (p.Phe306Leu) n.759T>A c.1126T>A c.613T>A (n.613T>A) c.685T>A n.338T>A n.363T>A c.564T>A (p.Phe188Leu) c.865T>A n.551T>A c.872T>A c.753T>A (p.Phe251Leu) c.684T>A (p.Phe228Leu) c.367T>A n.1041T>A c.309T>A (p.Phe103Leu) | |
19 | g.33401814del | CA2695228562 | PEPD | c.876del (p.Ala294ProfsTer27) c.831del (p.Ala279ProfsTer27) c.927del (p.Ala311ProfsTer27) n.939del c.555del (p.Ala187ProfsTer27) c.918del (p.Ala308ProfsTer27) n.759del c.1126del c.613del (n.613del) c.685del n.338del n.363del c.564del (p.Ala190ProfsTer?) c.865del n.551del c.872del c.753del (p.Ala253ProfsTer27) c.684del (p.Ala230ProfsTer27) c.367del n.1041del c.309del (p.Phe103=) | |
19 | g.33401813A>C | CA405224532 | PEPD | c.875T>G (p.Phe292Cys) c.830T>G (p.Phe277Cys) c.926T>G (p.Phe309Cys) n.938T>G c.554T>G (p.Phe185Cys) c.917T>G (p.Phe306Cys) n.758T>G c.1125T>G c.612T>G (n.612T>G) c.684T>G n.337T>G n.362T>G c.563T>G (p.Phe188Cys) c.864T>G n.550T>G c.871T>G c.752T>G (p.Phe251Cys) c.683T>G (p.Phe228Cys) c.366T>G n.1040T>G c.308T>G (p.Phe103Cys) | |
19 | g.33401813A>G | CA405224535 | PEPD | c.875T>C (p.Phe292Ser) c.830T>C (p.Phe277Ser) c.926T>C (p.Phe309Ser) n.938T>C c.554T>C (p.Phe185Ser) c.917T>C (p.Phe306Ser) n.758T>C c.1125T>C c.612T>C (n.612T>C) c.684T>C n.337T>C n.362T>C c.563T>C (p.Phe188Ser) c.864T>C n.550T>C c.871T>C c.752T>C (p.Phe251Ser) c.683T>C (p.Phe228Ser) c.366T>C n.1040T>C c.308T>C (p.Phe103Ser) | |
19 | g.33401813A>T | CA405224536 | PEPD | c.875T>A (p.Phe292Tyr) c.830T>A (p.Phe277Tyr) c.926T>A (p.Phe309Tyr) n.938T>A c.554T>A (p.Phe185Tyr) c.917T>A (p.Phe306Tyr) n.758T>A c.1125T>A c.612T>A (n.612T>A) c.684T>A n.337T>A n.362T>A c.563T>A (p.Phe188Tyr) c.864T>A n.550T>A c.871T>A c.752T>A (p.Phe251Tyr) c.683T>A (p.Phe228Tyr) c.366T>A n.1040T>A c.308T>A (p.Phe103Tyr) | |
19 | g.33401814A>C | CA405224538 | PEPD | c.874T>G (p.Phe292Val) c.829T>G (p.Phe277Val) c.925T>G (p.Phe309Val) n.937T>G c.553T>G (p.Phe185Val) c.916T>G (p.Phe306Val) n.757T>G c.1124T>G c.611T>G (n.611T>G) c.683T>G n.336T>G n.361T>G c.562T>G (p.Phe188Val) c.863T>G n.549T>G c.870T>G c.751T>G (p.Phe251Val) c.682T>G (p.Phe228Val) c.365T>G n.1039T>G c.307T>G (p.Phe103Val) | |
19 | g.33401814A>G | CA405224540 | PEPD | c.874T>C (p.Phe292Leu) c.829T>C (p.Phe277Leu) c.925T>C (p.Phe309Leu) n.937T>C c.553T>C (p.Phe185Leu) c.916T>C (p.Phe306Leu) n.757T>C c.1124T>C c.611T>C (n.611T>C) c.683T>C n.336T>C n.361T>C c.562T>C (p.Phe188Leu) c.863T>C n.549T>C c.870T>C c.751T>C (p.Phe251Leu) c.682T>C (p.Phe228Leu) c.365T>C n.1039T>C c.307T>C (p.Phe103Leu) | |
19 | g.33401814A>T | CA405224543 | PEPD | c.874T>A (p.Phe292Ile) c.829T>A (p.Phe277Ile) c.925T>A (p.Phe309Ile) n.937T>A c.553T>A (p.Phe185Ile) c.916T>A (p.Phe306Ile) n.757T>A c.1124T>A c.611T>A (n.611T>A) c.683T>A n.336T>A n.361T>A c.562T>A (p.Phe188Ile) c.863T>A n.549T>A c.870T>A c.751T>A (p.Phe251Ile) c.682T>A (p.Phe228Ile) c.365T>A n.1039T>A c.307T>A (p.Phe103Ile) | |
19 | g.33401816_33401818del | CA2642422064 | PEPD | c.872_874del (p.Ser291del) c.827_829del (p.Ser276del) c.923_925del (p.Ser308del) n.935_937del c.551_553del (p.Ser184del) c.914_916del (p.Ser305del) n.755_757del c.1122_1124del c.609_611del (n.609_611del) c.681_683del n.334_336del n.359_361del c.560_562del (p.Ser187del) c.861_863del n.547_549del c.868_870del c.749_751del (p.Ser250del) c.680_682del (p.Ser227del) c.363_365del n.1037_1039del c.305_307del (p.Ser102del) | gnomAD v4 |
19 | g.33401815G>A | CA307584778 | PEPD | c.873C>T (p.Ser291=) c.828C>T (p.Ser276=) c.924C>T (p.Ser308=) n.936C>T c.552C>T (p.Ser184=) c.915C>T (p.Ser305=) n.756C>T c.1123C>T c.610C>T (n.610C>T) c.682C>T n.335C>T n.360C>T c.561C>T (p.Ser187=) c.862C>T n.548C>T c.869C>T c.750C>T (p.Ser250=) c.681C>T (p.Ser227=) c.364C>T n.1038C>T c.306C>T (p.Ser102=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401815G>C | CA506688053 | PEPD | c.873C>G (p.Ser291=) c.828C>G (p.Ser276=) c.924C>G (p.Ser308=) n.936C>G c.552C>G (p.Ser184=) c.915C>G (p.Ser305=) n.756C>G c.1123C>G c.610C>G (n.610C>G) c.682C>G n.335C>G n.360C>G c.561C>G (p.Ser187=) c.862C>G n.548C>G c.869C>G c.750C>G (p.Ser250=) c.681C>G (p.Ser227=) c.364C>G n.1038C>G c.306C>G (p.Ser102=) | ClinVar |
19 | g.33401815G= | CA2332706124 | PEPD | c.873C= (p.Ser291=) c.828C= (p.Ser276=) c.924C= (p.Ser308=) n.936C= c.552C= (p.Ser184=) c.915C= (p.Ser305=) n.756C= c.1123C= c.610C= (n.610C=) c.682C= n.335C= n.360C= c.561C= (p.Ser187=) c.862C= n.548C= c.869C= c.750C= (p.Ser250=) c.681C= (p.Ser227=) c.364C= n.1038C= c.306C= (p.Ser102=) | |
19 | g.33401815G>T | CA506688051 | PEPD | c.873C>A (p.Ser291=) c.828C>A (p.Ser276=) c.924C>A (p.Ser308=) n.936C>A c.552C>A (p.Ser184=) c.915C>A (p.Ser305=) n.756C>A c.1123C>A c.610C>A (n.610C>A) c.682C>A n.335C>A n.360C>A c.561C>A (p.Ser187=) c.862C>A n.548C>A c.869C>A c.750C>A (p.Ser250=) c.681C>A (p.Ser227=) c.364C>A n.1038C>A c.306C>A (p.Ser102=) | |
19 | g.33401816G>A | CA405224545 | PEPD | c.872C>T (p.Ser291Phe) c.827C>T (p.Ser276Phe) c.923C>T (p.Ser308Phe) n.935C>T c.551C>T (p.Ser184Phe) c.914C>T (p.Ser305Phe) n.755C>T c.1122C>T c.609C>T (n.609C>T) c.681C>T n.334C>T n.359C>T c.560C>T (p.Ser187Phe) c.861C>T n.547C>T c.868C>T c.749C>T (p.Ser250Phe) c.680C>T (p.Ser227Phe) c.363C>T n.1037C>T c.305C>T (p.Ser102Phe) | gnomAD v4 |
19 | g.33401816G>C | CA405224548 | PEPD | c.872C>G (p.Ser291Cys) c.827C>G (p.Ser276Cys) c.923C>G (p.Ser308Cys) n.935C>G c.551C>G (p.Ser184Cys) c.914C>G (p.Ser305Cys) n.755C>G c.1122C>G c.609C>G (n.609C>G) c.681C>G n.334C>G n.359C>G c.560C>G (p.Ser187Cys) c.861C>G n.547C>G c.868C>G c.749C>G (p.Ser250Cys) c.680C>G (p.Ser227Cys) c.363C>G n.1037C>G c.305C>G (p.Ser102Cys) | |
19 | g.33401816G>T | CA405224552 | PEPD | c.872C>A (p.Ser291Tyr) c.827C>A (p.Ser276Tyr) c.923C>A (p.Ser308Tyr) n.935C>A c.551C>A (p.Ser184Tyr) c.914C>A (p.Ser305Tyr) n.755C>A c.1122C>A c.609C>A (n.609C>A) c.681C>A n.334C>A n.359C>A c.560C>A (p.Ser187Tyr) c.861C>A n.547C>A c.868C>A c.749C>A (p.Ser250Tyr) c.680C>A (p.Ser227Tyr) c.363C>A n.1037C>A c.305C>A (p.Ser102Tyr) | |
19 | g.33401817A= | CA2332706125 | PEPD | c.871T= (p.Ser291=) c.826T= (p.Ser276=) c.922T= (p.Ser308=) n.934T= c.550T= (p.Ser184=) c.913T= (p.Ser305=) n.754T= c.1121T= c.608T= (n.608T=) c.680T= n.333T= n.358T= c.559T= (p.Ser187=) c.860T= n.546T= c.867T= c.748T= (p.Ser250=) c.679T= (p.Ser227=) c.362T= n.1036T= c.304T= (p.Ser102=) | |
19 | g.33401817A>C | CA405224555 | PEPD | c.871T>G (p.Ser291Ala) c.826T>G (p.Ser276Ala) c.922T>G (p.Ser308Ala) n.934T>G c.550T>G (p.Ser184Ala) c.913T>G (p.Ser305Ala) n.754T>G c.1121T>G c.608T>G (n.608T>G) c.680T>G n.333T>G n.358T>G c.559T>G (p.Ser187Ala) c.860T>G n.546T>G c.867T>G c.748T>G (p.Ser250Ala) c.679T>G (p.Ser227Ala) c.362T>G n.1036T>G c.304T>G (p.Ser102Ala) | |
19 | g.33401817A>G | CA405224558 | PEPD | c.871T>C (p.Ser291Pro) c.826T>C (p.Ser276Pro) c.922T>C (p.Ser308Pro) n.934T>C c.550T>C (p.Ser184Pro) c.913T>C (p.Ser305Pro) n.754T>C c.1121T>C c.608T>C (n.608T>C) c.680T>C n.333T>C n.358T>C c.559T>C (p.Ser187Pro) c.860T>C n.546T>C c.867T>C c.748T>C (p.Ser250Pro) c.679T>C (p.Ser227Pro) c.362T>C n.1036T>C c.304T>C (p.Ser102Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401817A>T | CA405224560 | PEPD | c.871T>A (p.Ser291Thr) c.826T>A (p.Ser276Thr) c.922T>A (p.Ser308Thr) n.934T>A c.550T>A (p.Ser184Thr) c.913T>A (p.Ser305Thr) n.754T>A c.1121T>A c.608T>A (n.608T>A) c.680T>A n.333T>A n.358T>A c.559T>A (p.Ser187Thr) c.860T>A n.546T>A c.867T>A c.748T>A (p.Ser250Thr) c.679T>A (p.Ser227Thr) c.362T>A n.1036T>A c.304T>A (p.Ser102Thr) | |
19 | g.33401818G>A | CA9364089 | PEPD | c.870C>T (p.Cys290=) c.825C>T (p.Cys275=) c.921C>T (p.Cys307=) n.933C>T c.549C>T (p.Cys183=) c.912C>T (p.Cys304=) n.753C>T c.1120C>T c.607C>T (n.607C>T) c.679C>T n.332C>T n.357C>T c.558C>T (p.Cys186=) c.859C>T n.545C>T c.866C>T c.747C>T (p.Cys249=) c.678C>T (p.Cys226=) c.361C>T n.1035C>T c.303C>T (p.Cys101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401818G>C | CA405224563 | PEPD | c.870C>G (p.Cys290Trp) c.825C>G (p.Cys275Trp) c.921C>G (p.Cys307Trp) n.933C>G c.549C>G (p.Cys183Trp) c.912C>G (p.Cys304Trp) n.753C>G c.1120C>G c.607C>G (n.607C>G) c.679C>G n.332C>G n.357C>G c.558C>G (p.Cys186Trp) c.859C>G n.545C>G c.866C>G c.747C>G (p.Cys249Trp) c.678C>G (p.Cys226Trp) c.361C>G n.1035C>G c.303C>G (p.Cys101Trp) | |
19 | g.33401818G= | CA2332706126 | PEPD | c.870C= (p.Cys290=) c.825C= (p.Cys275=) c.921C= (p.Cys307=) n.933C= c.549C= (p.Cys183=) c.912C= (p.Cys304=) n.753C= c.1120C= c.607C= (n.607C=) c.679C= n.332C= n.357C= c.558C= (p.Cys186=) c.859C= n.545C= c.866C= c.747C= (p.Cys249=) c.678C= (p.Cys226=) c.361C= n.1035C= c.303C= (p.Cys101=) | |
19 | g.33401818G>T | CA405224564 | PEPD | c.870C>A (p.Cys290Ter) c.825C>A (p.Cys275Ter) c.921C>A (p.Cys307Ter) n.933C>A c.549C>A (p.Cys183Ter) c.912C>A (p.Cys304Ter) n.753C>A c.1120C>A c.607C>A (n.607C>A) c.679C>A n.332C>A n.357C>A c.558C>A (p.Cys186Ter) c.859C>A n.545C>A c.866C>A c.747C>A (p.Cys249Ter) c.678C>A (p.Cys226Ter) c.361C>A n.1035C>A c.303C>A (p.Cys101Ter) | |
19 | g.33401819C>A | CA405224569 | PEPD | c.869G>T (p.Cys290Phe) c.824G>T (p.Cys275Phe) c.920G>T (p.Cys307Phe) n.932G>T c.548G>T (p.Cys183Phe) c.911G>T (p.Cys304Phe) n.752G>T c.1119G>T c.606G>T (n.606G>T) c.678G>T n.331G>T n.356G>T c.557G>T (p.Cys186Phe) c.858G>T n.544G>T c.865G>T c.746G>T (p.Cys249Phe) c.677G>T (p.Cys226Phe) c.360G>T n.1034G>T c.302G>T (p.Cys101Phe) | |
19 | g.33401819C>G | CA405224570 | PEPD | c.869G>C (p.Cys290Ser) c.824G>C (p.Cys275Ser) c.920G>C (p.Cys307Ser) n.932G>C c.548G>C (p.Cys183Ser) c.911G>C (p.Cys304Ser) n.752G>C c.1119G>C c.606G>C (n.606G>C) c.678G>C n.331G>C n.356G>C c.557G>C (p.Cys186Ser) c.858G>C n.544G>C c.865G>C c.746G>C (p.Cys249Ser) c.677G>C (p.Cys226Ser) c.360G>C n.1034G>C c.302G>C (p.Cys101Ser) | |
19 | g.33401819C>T | CA405224576 | PEPD | c.869G>A (p.Cys290Tyr) c.824G>A (p.Cys275Tyr) c.920G>A (p.Cys307Tyr) n.932G>A c.548G>A (p.Cys183Tyr) c.911G>A (p.Cys304Tyr) n.752G>A c.1119G>A c.606G>A (n.606G>A) c.678G>A n.331G>A n.356G>A c.557G>A (p.Cys186Tyr) c.858G>A n.544G>A c.865G>A c.746G>A (p.Cys249Tyr) c.677G>A (p.Cys226Tyr) c.360G>A n.1034G>A c.302G>A (p.Cys101Tyr) | |
19 | g.33401820A= | CA2332706127 | PEPD | c.868T= (p.Cys290=) c.823T= (p.Cys275=) c.919T= (p.Cys307=) n.931T= c.547T= (p.Cys183=) c.910T= (p.Cys304=) n.751T= c.1118T= c.605T= (n.605T=) c.677T= n.330T= n.355T= c.556T= (p.Cys186=) c.857T= n.543T= c.864T= c.745T= (p.Cys249=) c.676T= (p.Cys226=) c.359T= n.1033T= c.301T= (p.Cys101=) | |
19 | g.33401820A>C | CA405224580 | PEPD | c.868T>G (p.Cys290Gly) c.823T>G (p.Cys275Gly) c.919T>G (p.Cys307Gly) n.931T>G c.547T>G (p.Cys183Gly) c.910T>G (p.Cys304Gly) n.751T>G c.1118T>G c.605T>G (n.605T>G) c.677T>G n.330T>G n.355T>G c.556T>G (p.Cys186Gly) c.857T>G n.543T>G c.864T>G c.745T>G (p.Cys249Gly) c.676T>G (p.Cys226Gly) c.359T>G n.1033T>G c.301T>G (p.Cys101Gly) | |
19 | g.33401820A>G | CA9364090 | PEPD | c.868T>C (p.Cys290Arg) c.823T>C (p.Cys275Arg) c.919T>C (p.Cys307Arg) n.931T>C c.547T>C (p.Cys183Arg) c.910T>C (p.Cys304Arg) n.751T>C c.1118T>C c.605T>C (n.605T>C) c.677T>C n.330T>C n.355T>C c.556T>C (p.Cys186Arg) c.857T>C n.543T>C c.864T>C c.745T>C (p.Cys249Arg) c.676T>C (p.Cys226Arg) c.359T>C n.1033T>C c.301T>C (p.Cys101Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401820A>T | CA405224583 | PEPD | c.868T>A (p.Cys290Ser) c.823T>A (p.Cys275Ser) c.919T>A (p.Cys307Ser) n.931T>A c.547T>A (p.Cys183Ser) c.910T>A (p.Cys304Ser) n.751T>A c.1118T>A c.605T>A (n.605T>A) c.677T>A n.330T>A n.355T>A c.556T>A (p.Cys186Ser) c.857T>A n.543T>A c.864T>A c.745T>A (p.Cys249Ser) c.676T>A (p.Cys226Ser) c.359T>A n.1033T>A c.301T>A (p.Cys101Ser) | |
19 | g.33401821G>A | CA506688073 | PEPD | c.867C>T (p.Thr289=) c.822C>T (p.Thr274=) c.918C>T (p.Thr306=) n.930C>T c.546C>T (p.Thr182=) c.909C>T (p.Thr303=) n.750C>T c.1117C>T c.604C>T (n.604C>T) c.676C>T n.329C>T n.354C>T c.555C>T (p.Thr185=) c.856C>T n.542C>T c.863C>T c.744C>T (p.Thr248=) c.675C>T (p.Thr225=) c.358C>T n.1032C>T c.300C>T (p.Thr100=) | ClinVar gnomAD v4 |
19 | g.33401821G>C | CA506688075 | PEPD | c.867C>G (p.Thr289=) c.822C>G (p.Thr274=) c.918C>G (p.Thr306=) n.930C>G c.546C>G (p.Thr182=) c.909C>G (p.Thr303=) n.750C>G c.1117C>G c.604C>G (n.604C>G) c.676C>G n.329C>G n.354C>G c.555C>G (p.Thr185=) c.856C>G n.542C>G c.863C>G c.744C>G (p.Thr248=) c.675C>G (p.Thr225=) c.358C>G n.1032C>G c.300C>G (p.Thr100=) | dbSNP |
19 | g.33401821G= | CA2332706128 | PEPD | c.867C= (p.Thr289=) c.822C= (p.Thr274=) c.918C= (p.Thr306=) n.930C= c.546C= (p.Thr182=) c.909C= (p.Thr303=) n.750C= c.1117C= c.604C= (n.604C=) c.676C= n.329C= n.354C= c.555C= (p.Thr185=) c.856C= n.542C= c.863C= c.744C= (p.Thr248=) c.675C= (p.Thr225=) c.358C= n.1032C= c.300C= (p.Thr100=) | |
19 | g.33401821G>T | CA506688076 | PEPD | c.867C>A (p.Thr289=) c.822C>A (p.Thr274=) c.918C>A (p.Thr306=) n.930C>A c.546C>A (p.Thr182=) c.909C>A (p.Thr303=) n.750C>A c.1117C>A c.604C>A (n.604C>A) c.676C>A n.329C>A n.354C>A c.555C>A (p.Thr185=) c.856C>A n.542C>A c.863C>A c.744C>A (p.Thr248=) c.675C>A (p.Thr225=) c.358C>A n.1032C>A c.300C>A (p.Thr100=) | |
19 | g.33401822G>A | CA405224586 | PEPD | c.866C>T (p.Thr289Ile) c.821C>T (p.Thr274Ile) c.917C>T (p.Thr306Ile) n.929C>T c.545C>T (p.Thr182Ile) c.908C>T (p.Thr303Ile) n.749C>T c.1116C>T c.603C>T (n.603C>T) c.675C>T n.328C>T n.353C>T c.554C>T (p.Thr185Ile) c.855C>T n.541C>T c.862C>T c.743C>T (p.Thr248Ile) c.674C>T (p.Thr225Ile) c.357C>T n.1031C>T c.299C>T (p.Thr100Ile) | |
19 | g.33401822G>C | CA405224589 | PEPD | c.866C>G (p.Thr289Ser) c.821C>G (p.Thr274Ser) c.917C>G (p.Thr306Ser) n.929C>G c.545C>G (p.Thr182Ser) c.908C>G (p.Thr303Ser) n.749C>G c.1116C>G c.603C>G (n.603C>G) c.675C>G n.328C>G n.353C>G c.554C>G (p.Thr185Ser) c.855C>G n.541C>G c.862C>G c.743C>G (p.Thr248Ser) c.674C>G (p.Thr225Ser) c.357C>G n.1031C>G c.299C>G (p.Thr100Ser) | |
19 | g.33401822G>T | CA405224596 | PEPD | c.866C>A (p.Thr289Asn) c.821C>A (p.Thr274Asn) c.917C>A (p.Thr306Asn) n.929C>A c.545C>A (p.Thr182Asn) c.908C>A (p.Thr303Asn) n.749C>A c.1116C>A c.603C>A (n.603C>A) c.675C>A n.328C>A n.353C>A c.554C>A (p.Thr185Asn) c.855C>A n.541C>A c.862C>A c.743C>A (p.Thr248Asn) c.674C>A (p.Thr225Asn) c.357C>A n.1031C>A c.299C>A (p.Thr100Asn) | |
19 | g.33401823T>A | CA405224599 | PEPD | c.865A>T (p.Thr289Ser) c.820A>T (p.Thr274Ser) c.916A>T (p.Thr306Ser) n.928A>T c.544A>T (p.Thr182Ser) c.907A>T (p.Thr303Ser) n.748A>T c.1115A>T c.602A>T (n.602A>T) c.674A>T n.327A>T n.352A>T c.553A>T (p.Thr185Ser) c.854A>T n.540A>T c.861A>T c.742A>T (p.Thr248Ser) c.673A>T (p.Thr225Ser) c.356A>T n.1030A>T c.298A>T (p.Thr100Ser) | |
19 | g.33401823T>C | CA405224602 | PEPD | c.865A>G (p.Thr289Ala) c.820A>G (p.Thr274Ala) c.916A>G (p.Thr306Ala) n.928A>G c.544A>G (p.Thr182Ala) c.907A>G (p.Thr303Ala) n.748A>G c.1115A>G c.602A>G (n.602A>G) c.674A>G n.327A>G n.352A>G c.553A>G (p.Thr185Ala) c.854A>G n.540A>G c.861A>G c.742A>G (p.Thr248Ala) c.673A>G (p.Thr225Ala) c.356A>G n.1030A>G c.298A>G (p.Thr100Ala) | gnomAD v4 |
19 | g.33401823T>G | CA405224608 | PEPD | c.865A>C (p.Thr289Pro) c.820A>C (p.Thr274Pro) c.916A>C (p.Thr306Pro) n.928A>C c.544A>C (p.Thr182Pro) c.907A>C (p.Thr303Pro) n.748A>C c.1115A>C c.602A>C (n.602A>C) c.674A>C n.327A>C n.352A>C c.553A>C (p.Thr185Pro) c.854A>C n.540A>C c.861A>C c.742A>C (p.Thr248Pro) c.673A>C (p.Thr225Pro) c.356A>C n.1030A>C c.298A>C (p.Thr100Pro) | |
19 | g.33401824G>A | CA506688084 | PEPD | c.864C>T (p.Ile288=) c.819C>T (p.Ile273=) c.915C>T (p.Ile305=) n.927C>T c.543C>T (p.Ile181=) c.906C>T (p.Ile302=) n.747C>T c.1114C>T c.601C>T (n.601C>T) c.673C>T n.326C>T n.351C>T c.552C>T (p.Ile184=) c.853C>T n.539C>T c.860C>T c.741C>T (p.Ile247=) c.672C>T (p.Ile224=) c.355C>T n.1029C>T c.297C>T (p.Ile99=) | ClinVar |
19 | g.33401824G>C | CA405224610 | PEPD | c.864C>G (p.Ile288Met) c.819C>G (p.Ile273Met) c.915C>G (p.Ile305Met) n.927C>G c.543C>G (p.Ile181Met) c.906C>G (p.Ile302Met) n.747C>G c.1114C>G c.601C>G (n.601C>G) c.673C>G n.326C>G n.351C>G c.552C>G (p.Ile184Met) c.853C>G n.539C>G c.860C>G c.741C>G (p.Ile247Met) c.672C>G (p.Ile224Met) c.355C>G n.1029C>G c.297C>G (p.Ile99Met) | ClinVar gnomAD v4 |
19 | g.33401824G>T | CA506688087 | PEPD | c.864C>A (p.Ile288=) c.819C>A (p.Ile273=) c.915C>A (p.Ile305=) n.927C>A c.543C>A (p.Ile181=) c.906C>A (p.Ile302=) n.747C>A c.1114C>A c.601C>A (n.601C>A) c.673C>A n.326C>A n.351C>A c.552C>A (p.Ile184=) c.853C>A n.539C>A c.860C>A c.741C>A (p.Ile247=) c.672C>A (p.Ile224=) c.355C>A n.1029C>A c.297C>A (p.Ile99=) | |
19 | g.33401825A= | CA2332706129 | PEPD | c.863T= (p.Ile288=) c.818T= (p.Ile273=) c.914T= (p.Ile305=) n.926T= c.542T= (p.Ile181=) c.905T= (p.Ile302=) n.746T= c.1113T= c.600T= (n.600T=) c.672T= n.325T= n.350T= c.551T= (p.Ile184=) c.852T= n.538T= c.859T= c.740T= (p.Ile247=) c.671T= (p.Ile224=) c.354T= n.1028T= c.296T= (p.Ile99=) | |
19 | g.33401825A>C | CA405224615 | PEPD | c.863T>G (p.Ile288Ser) c.818T>G (p.Ile273Ser) c.914T>G (p.Ile305Ser) n.926T>G c.542T>G (p.Ile181Ser) c.905T>G (p.Ile302Ser) n.746T>G c.1113T>G c.600T>G (n.600T>G) c.672T>G n.325T>G n.350T>G c.551T>G (p.Ile184Ser) c.852T>G n.538T>G c.859T>G c.740T>G (p.Ile247Ser) c.671T>G (p.Ile224Ser) c.354T>G n.1028T>G c.296T>G (p.Ile99Ser) | |
19 | g.33401825A>G | CA9364091 | PEPD | c.863T>C (p.Ile288Thr) c.818T>C (p.Ile273Thr) c.914T>C (p.Ile305Thr) n.926T>C c.542T>C (p.Ile181Thr) c.905T>C (p.Ile302Thr) n.746T>C c.1113T>C c.600T>C (n.600T>C) c.672T>C n.325T>C n.350T>C c.551T>C (p.Ile184Thr) c.852T>C n.538T>C c.859T>C c.740T>C (p.Ile247Thr) c.671T>C (p.Ile224Thr) c.354T>C n.1028T>C c.296T>C (p.Ile99Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.33401825A>T | CA405224613 | PEPD | c.863T>A (p.Ile288Asn) c.818T>A (p.Ile273Asn) c.914T>A (p.Ile305Asn) n.926T>A c.542T>A (p.Ile181Asn) c.905T>A (p.Ile302Asn) n.746T>A c.1113T>A c.600T>A (n.600T>A) c.672T>A n.325T>A n.350T>A c.551T>A (p.Ile184Asn) c.852T>A n.538T>A c.859T>A c.740T>A (p.Ile247Asn) c.671T>A (p.Ile224Asn) c.354T>A n.1028T>A c.296T>A (p.Ile99Asn) | |
19 | g.33401826T>A | CA405224620 | PEPD | c.862A>T (p.Ile288Phe) c.817A>T (p.Ile273Phe) c.913A>T (p.Ile305Phe) n.925A>T c.541A>T (p.Ile181Phe) c.904A>T (p.Ile302Phe) n.745A>T c.1112A>T c.599A>T (n.599A>T) c.671A>T n.324A>T n.349A>T c.550A>T (p.Ile184Phe) c.851A>T n.537A>T c.858A>T c.739A>T (p.Ile247Phe) c.670A>T (p.Ile224Phe) c.353A>T n.1027A>T c.295A>T (p.Ile99Phe) | |
19 | g.33401826T>C | CA405224630 | PEPD | c.862A>G (p.Ile288Val) c.817A>G (p.Ile273Val) c.913A>G (p.Ile305Val) n.925A>G c.541A>G (p.Ile181Val) c.904A>G (p.Ile302Val) n.745A>G c.1112A>G c.599A>G (n.599A>G) c.671A>G n.324A>G n.349A>G c.550A>G (p.Ile184Val) c.851A>G n.537A>G c.858A>G c.739A>G (p.Ile247Val) c.670A>G (p.Ile224Val) c.353A>G n.1027A>G c.295A>G (p.Ile99Val) | gnomAD v3 gnomAD v4 |
19 | g.33401826T>G | CA405224629 | PEPD | c.862A>C (p.Ile288Leu) c.817A>C (p.Ile273Leu) c.913A>C (p.Ile305Leu) n.925A>C c.541A>C (p.Ile181Leu) c.904A>C (p.Ile302Leu) n.745A>C c.1112A>C c.599A>C (n.599A>C) c.671A>C n.324A>C n.349A>C c.550A>C (p.Ile184Leu) c.851A>C n.537A>C c.858A>C c.739A>C (p.Ile247Leu) c.670A>C (p.Ile224Leu) c.353A>C n.1027A>C c.295A>C (p.Ile99Leu) | |
19 | g.33401827G>A | CA9364092 | PEPD | c.861C>T (p.Asp287=) c.816C>T (p.Asp272=) c.912C>T (p.Asp304=) n.924C>T c.540C>T (p.Asp180=) c.903C>T (p.Asp301=) n.744C>T c.1111C>T c.598C>T (n.598C>T) c.670C>T n.323C>T n.348C>T c.549C>T (p.Asp183=) c.850C>T n.536C>T c.857C>T c.738C>T (p.Asp246=) c.669C>T (p.Asp223=) c.352C>T n.1026C>T c.294C>T (p.Asp98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.33401827G>C | CA405224633 | PEPD | c.861C>G (p.Asp287Glu) c.816C>G (p.Asp272Glu) c.912C>G (p.Asp304Glu) n.924C>G c.540C>G (p.Asp180Glu) c.903C>G (p.Asp301Glu) n.744C>G c.1111C>G c.598C>G (n.598C>G) c.670C>G n.323C>G n.348C>G c.549C>G (p.Asp183Glu) c.850C>G n.536C>G c.857C>G c.738C>G (p.Asp246Glu) c.669C>G (p.Asp223Glu) c.352C>G n.1026C>G c.294C>G (p.Asp98Glu) | |
19 | g.33401827G= | CA2332706130 | PEPD | c.861C= (p.Asp287=) c.816C= (p.Asp272=) c.912C= (p.Asp304=) n.924C= c.540C= (p.Asp180=) c.903C= (p.Asp301=) n.744C= c.1111C= c.598C= (n.598C=) c.670C= n.323C= n.348C= c.549C= (p.Asp183=) c.850C= n.536C= c.857C= c.738C= (p.Asp246=) c.669C= (p.Asp223=) c.352C= n.1026C= c.294C= (p.Asp98=) | |
19 | g.33401827G>T | CA405224635 | PEPD | c.861C>A (p.Asp287Glu) c.816C>A (p.Asp272Glu) c.912C>A (p.Asp304Glu) n.924C>A c.540C>A (p.Asp180Glu) c.903C>A (p.Asp301Glu) n.744C>A c.1111C>A c.598C>A (n.598C>A) c.670C>A n.323C>A n.348C>A c.549C>A (p.Asp183Glu) c.850C>A n.536C>A c.857C>A c.738C>A (p.Asp246Glu) c.669C>A (p.Asp223Glu) c.352C>A n.1026C>A c.294C>A (p.Asp98Glu) | |
19 | g.33401828T>A | CA405224637 | PEPD | c.860A>T (p.Asp287Val) c.815A>T (p.Asp272Val) c.911A>T (p.Asp304Val) n.923A>T c.539A>T (p.Asp180Val) c.902A>T (p.Asp301Val) n.743A>T c.1110A>T c.597A>T (n.597A>T) c.669A>T n.322A>T n.347A>T c.548A>T (p.Asp183Val) c.849A>T n.535A>T c.856A>T c.737A>T (p.Asp246Val) c.668A>T (p.Asp223Val) c.351A>T n.1025A>T c.293A>T (p.Asp98Val) | |
19 | g.33401828T>C | CA405224639 | PEPD | c.860A>G (p.Asp287Gly) c.815A>G (p.Asp272Gly) c.911A>G (p.Asp304Gly) n.923A>G c.539A>G (p.Asp180Gly) c.902A>G (p.Asp301Gly) n.743A>G c.1110A>G c.597A>G (n.597A>G) c.669A>G n.322A>G n.347A>G c.548A>G (p.Asp183Gly) c.849A>G n.535A>G c.856A>G c.737A>G (p.Asp246Gly) c.668A>G (p.Asp223Gly) c.351A>G n.1025A>G c.293A>G (p.Asp98Gly) | |
19 | g.33401828T>G | CA405224640 | PEPD | c.860A>C (p.Asp287Ala) c.815A>C (p.Asp272Ala) c.911A>C (p.Asp304Ala) n.923A>C c.539A>C (p.Asp180Ala) c.902A>C (p.Asp301Ala) n.743A>C c.1110A>C c.597A>C (n.597A>C) c.669A>C n.322A>C n.347A>C c.548A>C (p.Asp183Ala) c.849A>C n.535A>C c.856A>C c.737A>C (p.Asp246Ala) c.668A>C (p.Asp223Ala) c.351A>C n.1025A>C c.293A>C (p.Asp98Ala) | gnomAD v4 |
19 | g.33401829C>A | CA405224642 | PEPD | c.859G>T (p.Asp287Tyr) c.814G>T (p.Asp272Tyr) c.910G>T (p.Asp304Tyr) n.922G>T c.538G>T (p.Asp180Tyr) c.901G>T (p.Asp301Tyr) n.742G>T c.1109G>T c.596G>T (n.596G>T) c.668G>T n.321G>T n.346G>T c.547G>T (p.Asp183Tyr) c.848G>T n.534G>T c.855G>T c.736G>T (p.Asp246Tyr) c.667G>T (p.Asp223Tyr) c.350G>T n.1024G>T c.292G>T (p.Asp98Tyr) | |
19 | g.33401829C= | CA2332706131 | PEPD | c.859G= (p.Asp287=) c.814G= (p.Asp272=) c.910G= (p.Asp304=) n.922G= c.538G= (p.Asp180=) c.901G= (p.Asp301=) n.742G= c.1109G= c.596G= (n.596G=) c.668G= n.321G= n.346G= c.547G= (p.Asp183=) c.848G= n.534G= c.855G= c.736G= (p.Asp246=) c.667G= (p.Asp223=) c.350G= n.1024G= c.292G= (p.Asp98=) | |
19 | g.33401829C>G | CA405224644 | PEPD | c.859G>C (p.Asp287His) c.814G>C (p.Asp272His) c.910G>C (p.Asp304His) n.922G>C c.538G>C (p.Asp180His) c.901G>C (p.Asp301His) n.742G>C c.1109G>C c.596G>C (n.596G>C) c.668G>C n.321G>C n.346G>C c.547G>C (p.Asp183His) c.848G>C n.534G>C c.855G>C c.736G>C (p.Asp246His) c.667G>C (p.Asp223His) c.350G>C n.1024G>C c.292G>C (p.Asp98His) | |
19 | g.33401829C>T | CA9364093 | PEPD | c.859G>A (p.Asp287Asn) c.814G>A (p.Asp272Asn) c.910G>A (p.Asp304Asn) n.922G>A c.538G>A (p.Asp180Asn) c.901G>A (p.Asp301Asn) n.742G>A c.1109G>A c.596G>A (n.596G>A) c.668G>A n.321G>A n.346G>A c.547G>A (p.Asp183Asn) c.848G>A n.534G>A c.855G>A c.736G>A (p.Asp246Asn) c.667G>A (p.Asp223Asn) c.350G>A n.1024G>A c.292G>A (p.Asp98Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401830G>A | CA9364094 | PEPD | c.858C>T (p.Ser286=) c.813C>T (p.Ser271=) c.909C>T (p.Ser303=) n.921C>T c.537C>T (p.Ser179=) c.900C>T (p.Ser300=) n.741C>T c.1108C>T c.595C>T (n.595C>T) c.667C>T n.320C>T n.345C>T c.546C>T (p.Ser182=) c.847C>T n.533C>T c.854C>T c.735C>T (p.Ser245=) c.666C>T (p.Ser222=) c.349C>T n.1023C>T c.291C>T (p.Ser97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401830G>C | CA506688109 | PEPD | c.858C>G (p.Ser286=) c.813C>G (p.Ser271=) c.909C>G (p.Ser303=) n.921C>G c.537C>G (p.Ser179=) c.900C>G (p.Ser300=) n.741C>G c.1108C>G c.595C>G (n.595C>G) c.667C>G n.320C>G n.345C>G c.546C>G (p.Ser182=) c.847C>G n.533C>G c.854C>G c.735C>G (p.Ser245=) c.666C>G (p.Ser222=) c.349C>G n.1023C>G c.291C>G (p.Ser97=) | |
19 | g.33401830G= | CA2332706132 | PEPD | c.858C= (p.Ser286=) c.813C= (p.Ser271=) c.909C= (p.Ser303=) n.921C= c.537C= (p.Ser179=) c.900C= (p.Ser300=) n.741C= c.1108C= c.595C= (n.595C=) c.667C= n.320C= n.345C= c.546C= (p.Ser182=) c.847C= n.533C= c.854C= c.735C= (p.Ser245=) c.666C= (p.Ser222=) c.349C= n.1023C= c.291C= (p.Ser97=) | |
19 | g.33401830G>T | CA506688107 | PEPD | c.858C>A (p.Ser286=) c.813C>A (p.Ser271=) c.909C>A (p.Ser303=) n.921C>A c.537C>A (p.Ser179=) c.900C>A (p.Ser300=) n.741C>A c.1108C>A c.595C>A (n.595C>A) c.667C>A n.320C>A n.345C>A c.546C>A (p.Ser182=) c.847C>A n.533C>A c.854C>A c.735C>A (p.Ser245=) c.666C>A (p.Ser222=) c.349C>A n.1023C>A c.291C>A (p.Ser97=) | dbSNP |
19 | g.33401831G>A | CA405224651 | PEPD | c.857C>T (p.Ser286Phe) c.812C>T (p.Ser271Phe) c.908C>T (p.Ser303Phe) n.920C>T c.536C>T (p.Ser179Phe) c.899C>T (p.Ser300Phe) n.740C>T c.1107C>T c.594C>T (n.594C>T) c.666C>T n.319C>T n.344C>T c.545C>T (p.Ser182Phe) c.846C>T n.532C>T c.853C>T c.734C>T (p.Ser245Phe) c.665C>T (p.Ser222Phe) c.348C>T n.1022C>T c.290C>T (p.Ser97Phe) | |
19 | g.33401831G>C | CA405224650 | PEPD | c.857C>G (p.Ser286Cys) c.812C>G (p.Ser271Cys) c.908C>G (p.Ser303Cys) n.920C>G c.536C>G (p.Ser179Cys) c.899C>G (p.Ser300Cys) n.740C>G c.1107C>G c.594C>G (n.594C>G) c.666C>G n.319C>G n.344C>G c.545C>G (p.Ser182Cys) c.846C>G n.532C>G c.853C>G c.734C>G (p.Ser245Cys) c.665C>G (p.Ser222Cys) c.348C>G n.1022C>G c.290C>G (p.Ser97Cys) | |
19 | g.33401831G>T | CA405224648 | PEPD | c.857C>A (p.Ser286Tyr) c.812C>A (p.Ser271Tyr) c.908C>A (p.Ser303Tyr) n.920C>A c.536C>A (p.Ser179Tyr) c.899C>A (p.Ser300Tyr) n.740C>A c.1107C>A c.594C>A (n.594C>A) c.666C>A n.319C>A n.344C>A c.545C>A (p.Ser182Tyr) c.846C>A n.532C>A c.853C>A c.734C>A (p.Ser245Tyr) c.665C>A (p.Ser222Tyr) c.348C>A n.1022C>A c.290C>A (p.Ser97Tyr) | |
19 | g.33401836_33401840del | CA645619050 | PEPD | c.853_857del (p.Ala285ArgfsTer21) c.808_812del (p.Ala270ArgfsTer21) c.904_908del (p.Ala302ArgfsTer21) n.916_920del c.532_536del (p.Ala178ArgfsTer21) c.895_899del (p.Ala299ArgfsTer21) n.736_740del c.1103_1107del c.590_594del (n.590_594del) c.662_666del n.315_319del n.340_344del c.541_545del (p.Ala181ArgfsTer?) c.842_846del n.528_532del c.849_853del c.730_734del (p.Ala244ArgfsTer21) c.661_665del (p.Ala221ArgfsTer21) c.344_348del n.1018_1022del c.286_290del (p.Ala96ArgfsTer?) | COSMIC |
19 | g.33401832A>C | CA405224654 | PEPD | c.856T>G (p.Ser286Ala) c.811T>G (p.Ser271Ala) c.907T>G (p.Ser303Ala) n.919T>G c.535T>G (p.Ser179Ala) c.898T>G (p.Ser300Ala) n.739T>G c.1106T>G c.593T>G (n.593T>G) c.665T>G n.318T>G n.343T>G c.544T>G (p.Ser182Ala) c.845T>G n.531T>G c.852T>G c.733T>G (p.Ser245Ala) c.664T>G (p.Ser222Ala) c.347T>G n.1021T>G c.289T>G (p.Ser97Ala) | |
19 | g.33401832A>G | CA405224656 | PEPD | c.856T>C (p.Ser286Pro) c.811T>C (p.Ser271Pro) c.907T>C (p.Ser303Pro) n.919T>C c.535T>C (p.Ser179Pro) c.898T>C (p.Ser300Pro) n.739T>C c.1106T>C c.593T>C (n.593T>C) c.665T>C n.318T>C n.343T>C c.544T>C (p.Ser182Pro) c.845T>C n.531T>C c.852T>C c.733T>C (p.Ser245Pro) c.664T>C (p.Ser222Pro) c.347T>C n.1021T>C c.289T>C (p.Ser97Pro) | |
19 | g.33401832A>T | CA405224657 | PEPD | c.856T>A (p.Ser286Thr) c.811T>A (p.Ser271Thr) c.907T>A (p.Ser303Thr) n.919T>A c.535T>A (p.Ser179Thr) c.898T>A (p.Ser300Thr) n.739T>A c.1106T>A c.593T>A (n.593T>A) c.665T>A n.318T>A n.343T>A c.544T>A (p.Ser182Thr) c.845T>A n.531T>A c.852T>A c.733T>A (p.Ser245Thr) c.664T>A (p.Ser222Thr) c.347T>A n.1021T>A c.289T>A (p.Ser97Thr) | |
19 | g.33401833A= | CA2332706133 | PEPD | c.855T= (p.Ala285=) c.810T= (p.Ala270=) c.906T= (p.Ala302=) n.918T= c.534T= (p.Ala178=) c.897T= (p.Ala299=) n.738T= c.1105T= c.592T= (n.592T=) c.664T= n.317T= n.342T= c.543T= (p.Ala181=) c.844T= n.530T= c.851T= c.732T= (p.Ala244=) c.663T= (p.Ala221=) c.346T= n.1020T= c.288T= (p.Ala96=) | |
19 | g.33401833A>C | CA506688123 | PEPD | c.855T>G (p.Ala285=) c.810T>G (p.Ala270=) c.906T>G (p.Ala302=) n.918T>G c.534T>G (p.Ala178=) c.897T>G (p.Ala299=) n.738T>G c.1105T>G c.592T>G (n.592T>G) c.664T>G n.317T>G n.342T>G c.543T>G (p.Ala181=) c.844T>G n.530T>G c.851T>G c.732T>G (p.Ala244=) c.663T>G (p.Ala221=) c.346T>G n.1020T>G c.288T>G (p.Ala96=) | dbSNP |
19 | g.33401833A>G | CA506688121 | PEPD | c.855T>C (p.Ala285=) c.810T>C (p.Ala270=) c.906T>C (p.Ala302=) n.918T>C c.534T>C (p.Ala178=) c.897T>C (p.Ala299=) n.738T>C c.1105T>C c.592T>C (n.592T>C) c.664T>C n.317T>C n.342T>C c.543T>C (p.Ala181=) c.844T>C n.530T>C c.851T>C c.732T>C (p.Ala244=) c.663T>C (p.Ala221=) c.346T>C n.1020T>C c.288T>C (p.Ala96=) | |
19 | g.33401833A>T | CA506688119 | PEPD | c.855T>A (p.Ala285=) c.810T>A (p.Ala270=) c.906T>A (p.Ala302=) n.918T>A c.534T>A (p.Ala178=) c.897T>A (p.Ala299=) n.738T>A c.1105T>A c.592T>A (n.592T>A) c.664T>A n.317T>A n.342T>A c.543T>A (p.Ala181=) c.844T>A n.530T>A c.851T>A c.732T>A (p.Ala244=) c.663T>A (p.Ala221=) c.346T>A n.1020T>A c.288T>A (p.Ala96=) | |
19 | g.33401834G>A | CA405224659 | PEPD | c.854C>T (p.Ala285Val) c.809C>T (p.Ala270Val) c.905C>T (p.Ala302Val) n.917C>T c.533C>T (p.Ala178Val) c.896C>T (p.Ala299Val) n.737C>T c.1104C>T c.591C>T (n.591C>T) c.663C>T n.316C>T n.341C>T c.542C>T (p.Ala181Val) c.843C>T n.529C>T c.850C>T c.731C>T (p.Ala244Val) c.662C>T (p.Ala221Val) c.345C>T n.1019C>T c.287C>T (p.Ala96Val) | |
19 | g.33401834G>C | CA405224663 | PEPD | c.854C>G (p.Ala285Gly) c.809C>G (p.Ala270Gly) c.905C>G (p.Ala302Gly) n.917C>G c.533C>G (p.Ala178Gly) c.896C>G (p.Ala299Gly) n.737C>G c.1104C>G c.591C>G (n.591C>G) c.663C>G n.316C>G n.341C>G c.542C>G (p.Ala181Gly) c.843C>G n.529C>G c.850C>G c.731C>G (p.Ala244Gly) c.662C>G (p.Ala221Gly) c.345C>G n.1019C>G c.287C>G (p.Ala96Gly) | |
19 | g.33401834G>T | CA405224665 | PEPD | c.854C>A (p.Ala285Asp) c.809C>A (p.Ala270Asp) c.905C>A (p.Ala302Asp) n.917C>A c.533C>A (p.Ala178Asp) c.896C>A (p.Ala299Asp) n.737C>A c.1104C>A c.591C>A (n.591C>A) c.663C>A n.316C>A n.341C>A c.542C>A (p.Ala181Asp) c.843C>A n.529C>A c.850C>A c.731C>A (p.Ala244Asp) c.662C>A (p.Ala221Asp) c.345C>A n.1019C>A c.287C>A (p.Ala96Asp) | |
19 | g.33401835C>A | CA405224666 | PEPD | c.853G>T (p.Ala285Ser) c.808G>T (p.Ala270Ser) c.904G>T (p.Ala302Ser) n.916G>T c.532G>T (p.Ala178Ser) c.895G>T (p.Ala299Ser) n.736G>T c.1103G>T c.590G>T (n.590G>T) c.662G>T n.315G>T n.340G>T c.541G>T (p.Ala181Ser) c.842G>T n.528G>T c.849G>T c.730G>T (p.Ala244Ser) c.661G>T (p.Ala221Ser) c.344G>T n.1018G>T c.286G>T (p.Ala96Ser) | |
19 | g.33401835C= | CA2332706134 | PEPD | c.853G= (p.Ala285=) c.808G= (p.Ala270=) c.904G= (p.Ala302=) n.916G= c.532G= (p.Ala178=) c.895G= (p.Ala299=) n.736G= c.1103G= c.590G= (n.590G=) c.662G= n.315G= n.340G= c.541G= (p.Ala181=) c.842G= n.528G= c.849G= c.730G= (p.Ala244=) c.661G= (p.Ala221=) c.344G= n.1018G= c.286G= (p.Ala96=) | |
19 | g.33401835C>G | CA405224668 | PEPD | c.853G>C (p.Ala285Pro) c.808G>C (p.Ala270Pro) c.904G>C (p.Ala302Pro) n.916G>C c.532G>C (p.Ala178Pro) c.895G>C (p.Ala299Pro) n.736G>C c.1103G>C c.590G>C (n.590G>C) c.662G>C n.315G>C n.340G>C c.541G>C (p.Ala181Pro) c.842G>C n.528G>C c.849G>C c.730G>C (p.Ala244Pro) c.661G>C (p.Ala221Pro) c.344G>C n.1018G>C c.286G>C (p.Ala96Pro) | |
19 | g.33401835C>T | CA9364095 | PEPD | c.853G>A (p.Ala285Thr) c.808G>A (p.Ala270Thr) c.904G>A (p.Ala302Thr) n.916G>A c.532G>A (p.Ala178Thr) c.895G>A (p.Ala299Thr) n.736G>A c.1103G>A c.590G>A (n.590G>A) c.662G>A n.315G>A n.340G>A c.541G>A (p.Ala181Thr) c.842G>A n.528G>A c.849G>A c.730G>A (p.Ala244Thr) c.661G>A (p.Ala221Thr) c.344G>A n.1018G>A c.286G>A (p.Ala96Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.33401836G>A | CA9364096 | PEPD | c.852C>T (p.Phe284=) c.807C>T (p.Phe269=) c.903C>T (p.Phe301=) n.915C>T c.531C>T (p.Phe177=) c.894C>T (p.Phe298=) n.735C>T c.1102C>T c.589C>T (n.589C>T) c.661C>T n.314C>T n.339C>T c.540C>T (p.Phe180=) c.841C>T n.527C>T c.848C>T c.729C>T (p.Phe243=) c.660C>T (p.Phe220=) c.343C>T n.1017C>T c.285C>T (p.Phe95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401836G>C | CA405224671 | PEPD | c.852C>G (p.Phe284Leu) c.807C>G (p.Phe269Leu) c.903C>G (p.Phe301Leu) n.915C>G c.531C>G (p.Phe177Leu) c.894C>G (p.Phe298Leu) n.735C>G c.1102C>G c.589C>G (n.589C>G) c.661C>G n.314C>G n.339C>G c.540C>G (p.Phe180Leu) c.841C>G n.527C>G c.848C>G c.729C>G (p.Phe243Leu) c.660C>G (p.Phe220Leu) c.343C>G n.1017C>G c.285C>G (p.Phe95Leu) | |
19 | g.33401836G= | CA2332706135 | PEPD | c.852C= (p.Phe284=) c.807C= (p.Phe269=) c.903C= (p.Phe301=) n.915C= c.531C= (p.Phe177=) c.894C= (p.Phe298=) n.735C= c.1102C= c.589C= (n.589C=) c.661C= n.314C= n.339C= c.540C= (p.Phe180=) c.841C= n.527C= c.848C= c.729C= (p.Phe243=) c.660C= (p.Phe220=) c.343C= n.1017C= c.285C= (p.Phe95=) | |
19 | g.33401836G>T | CA405224674 | PEPD | c.852C>A (p.Phe284Leu) c.807C>A (p.Phe269Leu) c.903C>A (p.Phe301Leu) n.915C>A c.531C>A (p.Phe177Leu) c.894C>A (p.Phe298Leu) n.735C>A c.1102C>A c.589C>A (n.589C>A) c.661C>A n.314C>A n.339C>A c.540C>A (p.Phe180Leu) c.841C>A n.527C>A c.848C>A c.729C>A (p.Phe243Leu) c.660C>A (p.Phe220Leu) c.343C>A n.1017C>A c.285C>A (p.Phe95Leu) | |
19 | g.33401837A>C | CA405224677 | PEPD | c.851T>G (p.Phe284Cys) c.806T>G (p.Phe269Cys) c.902T>G (p.Phe301Cys) n.914T>G c.530T>G (p.Phe177Cys) c.893T>G (p.Phe298Cys) n.734T>G c.1101T>G c.588T>G (n.588T>G) c.660T>G n.313T>G n.338T>G c.539T>G (p.Phe180Cys) c.840T>G n.526T>G c.847T>G c.728T>G (p.Phe243Cys) c.659T>G (p.Phe220Cys) c.342T>G n.1016T>G c.284T>G (p.Phe95Cys) | |
19 | g.33401837A>G | CA405224680 | PEPD | c.851T>C (p.Phe284Ser) c.806T>C (p.Phe269Ser) c.902T>C (p.Phe301Ser) n.914T>C c.530T>C (p.Phe177Ser) c.893T>C (p.Phe298Ser) n.734T>C c.1101T>C c.588T>C (n.588T>C) c.660T>C n.313T>C n.338T>C c.539T>C (p.Phe180Ser) c.840T>C n.526T>C c.847T>C c.728T>C (p.Phe243Ser) c.659T>C (p.Phe220Ser) c.342T>C n.1016T>C c.284T>C (p.Phe95Ser) | |
19 | g.33401837A>T | CA405224676 | PEPD | c.851T>A (p.Phe284Tyr) c.806T>A (p.Phe269Tyr) c.902T>A (p.Phe301Tyr) n.914T>A c.530T>A (p.Phe177Tyr) c.893T>A (p.Phe298Tyr) n.734T>A c.1101T>A c.588T>A (n.588T>A) c.660T>A n.313T>A n.338T>A c.539T>A (p.Phe180Tyr) c.840T>A n.526T>A c.847T>A c.728T>A (p.Phe243Tyr) c.659T>A (p.Phe220Tyr) c.342T>A n.1016T>A c.284T>A (p.Phe95Tyr) | |
19 | g.33401838A>C | CA405224682 | PEPD | c.850T>G (p.Phe284Val) c.805T>G (p.Phe269Val) c.901T>G (p.Phe301Val) n.913T>G c.529T>G (p.Phe177Val) c.892T>G (p.Phe298Val) n.733T>G c.1100T>G c.587T>G (n.587T>G) c.659T>G n.312T>G n.337T>G c.538T>G (p.Phe180Val) c.839T>G n.525T>G c.846T>G c.727T>G (p.Phe243Val) c.658T>G (p.Phe220Val) c.341T>G n.1015T>G c.283T>G (p.Phe95Val) | gnomAD v4 |
19 | g.33401838A>G | CA405224684 | PEPD | c.850T>C (p.Phe284Leu) c.805T>C (p.Phe269Leu) c.901T>C (p.Phe301Leu) n.913T>C c.529T>C (p.Phe177Leu) c.892T>C (p.Phe298Leu) n.733T>C c.1100T>C c.587T>C (n.587T>C) c.659T>C n.312T>C n.337T>C c.538T>C (p.Phe180Leu) c.839T>C n.525T>C c.846T>C c.727T>C (p.Phe243Leu) c.658T>C (p.Phe220Leu) c.341T>C n.1015T>C c.283T>C (p.Phe95Leu) | |
19 | g.33401838A>T | CA405224687 | PEPD | c.850T>A (p.Phe284Ile) c.805T>A (p.Phe269Ile) c.901T>A (p.Phe301Ile) n.913T>A c.529T>A (p.Phe177Ile) c.892T>A (p.Phe298Ile) n.733T>A c.1100T>A c.587T>A (n.587T>A) c.659T>A n.312T>A n.337T>A c.538T>A (p.Phe180Ile) c.839T>A n.525T>A c.846T>A c.727T>A (p.Phe243Ile) c.658T>A (p.Phe220Ile) c.341T>A n.1015T>A c.283T>A (p.Phe95Ile) | |
19 | g.33401839G>A | CA506688143 | PEPD | c.849C>T (p.Cys283=) c.804C>T (p.Cys268=) c.900C>T (p.Cys300=) n.912C>T c.528C>T (p.Cys176=) c.891C>T (p.Cys297=) n.732C>T c.1099C>T c.586C>T (n.586C>T) c.658C>T n.311C>T n.336C>T c.537C>T (p.Cys179=) c.838C>T n.524C>T c.845C>T c.726C>T (p.Cys242=) c.657C>T (p.Cys219=) c.340C>T n.484C>T n.1014C>T c.282C>T (p.Cys94=) | gnomAD v4 |
19 | g.33401839G>C | CA405224694 | PEPD | c.849C>G (p.Cys283Trp) c.804C>G (p.Cys268Trp) c.900C>G (p.Cys300Trp) n.912C>G c.528C>G (p.Cys176Trp) c.891C>G (p.Cys297Trp) n.732C>G c.1099C>G c.586C>G (n.586C>G) c.658C>G n.311C>G n.336C>G c.537C>G (p.Cys179Trp) c.838C>G n.524C>G c.845C>G c.726C>G (p.Cys242Trp) c.657C>G (p.Cys219Trp) c.340C>G n.484C>G n.1014C>G c.282C>G (p.Cys94Trp) | gnomAD v4 |
19 | g.33401839G>T | CA405224696 | PEPD | c.849C>A (p.Cys283Ter) c.804C>A (p.Cys268Ter) c.900C>A (p.Cys300Ter) n.912C>A c.528C>A (p.Cys176Ter) c.891C>A (p.Cys297Ter) n.732C>A c.1099C>A c.586C>A (n.586C>A) c.658C>A n.311C>A n.336C>A c.537C>A (p.Cys179Ter) c.838C>A n.524C>A c.845C>A c.726C>A (p.Cys242Ter) c.657C>A (p.Cys219Ter) c.340C>A n.484C>A n.1014C>A c.282C>A (p.Cys94Ter) | |
19 | g.33401840C>A | CA405224698 | PEPD | c.848G>T (p.Cys283Phe) c.803G>T (p.Cys268Phe) c.899G>T (p.Cys300Phe) n.911G>T c.527G>T (p.Cys176Phe) c.890G>T (p.Cys297Phe) n.731G>T c.1098G>T c.585G>T (n.585G>T) c.657G>T n.310G>T n.335G>T c.536G>T (p.Cys179Phe) c.837G>T n.523G>T c.844G>T c.725G>T (p.Cys242Phe) c.656G>T (p.Cys219Phe) c.339G>T n.483G>T n.1013G>T c.281G>T (p.Cys94Phe) | |
19 | g.33401840C= | CA2332706136 | PEPD | c.848G= (p.Cys283=) c.803G= (p.Cys268=) c.899G= (p.Cys300=) n.911G= c.527G= (p.Cys176=) c.890G= (p.Cys297=) n.731G= c.1098G= c.585G= (n.585G=) c.657G= n.310G= n.335G= c.536G= (p.Cys179=) c.837G= n.523G= c.844G= c.725G= (p.Cys242=) c.656G= (p.Cys219=) c.339G= n.483G= n.1013G= c.281G= (p.Cys94=) | |
19 | g.33401840C>G | CA405224700 | PEPD | c.848G>C (p.Cys283Ser) c.803G>C (p.Cys268Ser) c.899G>C (p.Cys300Ser) n.911G>C c.527G>C (p.Cys176Ser) c.890G>C (p.Cys297Ser) n.731G>C c.1098G>C c.585G>C (n.585G>C) c.657G>C n.310G>C n.335G>C c.536G>C (p.Cys179Ser) c.837G>C n.523G>C c.844G>C c.725G>C (p.Cys242Ser) c.656G>C (p.Cys219Ser) c.339G>C n.483G>C n.1013G>C c.281G>C (p.Cys94Ser) | dbSNP gnomAD v4 |
19 | g.33401840C>T | CA405224702 | PEPD | c.848G>A (p.Cys283Tyr) c.803G>A (p.Cys268Tyr) c.899G>A (p.Cys300Tyr) n.911G>A c.527G>A (p.Cys176Tyr) c.890G>A (p.Cys297Tyr) n.731G>A c.1098G>A c.585G>A (n.585G>A) c.657G>A n.310G>A n.335G>A c.536G>A (p.Cys179Tyr) c.837G>A n.523G>A c.844G>A c.725G>A (p.Cys242Tyr) c.656G>A (p.Cys219Tyr) c.339G>A n.483G>A n.1013G>A c.281G>A (p.Cys94Tyr) | |
19 | g.33401841A= | CA2332706137 | PEPD | c.847T= (p.Cys283=) c.802T= (p.Cys268=) c.898T= (p.Cys300=) n.910T= c.526T= (p.Cys176=) c.889T= (p.Cys297=) n.730T= c.1097T= c.584T= (n.584T=) c.656T= n.309T= n.334T= c.535T= (p.Cys179=) c.836T= n.522T= c.843T= c.724T= (p.Cys242=) c.655T= (p.Cys219=) c.338T= n.482T= n.1012T= c.280T= (p.Cys94=) | |
19 | g.33401841A>C | CA405224703 | PEPD | c.847T>G (p.Cys283Gly) c.802T>G (p.Cys268Gly) c.898T>G (p.Cys300Gly) n.910T>G c.526T>G (p.Cys176Gly) c.889T>G (p.Cys297Gly) n.730T>G c.1097T>G c.584T>G (n.584T>G) c.656T>G n.309T>G n.334T>G c.535T>G (p.Cys179Gly) c.836T>G n.522T>G c.843T>G c.724T>G (p.Cys242Gly) c.655T>G (p.Cys219Gly) c.338T>G n.482T>G n.1012T>G c.280T>G (p.Cys94Gly) | |
19 | g.33401841A>G | CA405224704 | PEPD | c.847T>C (p.Cys283Arg) c.802T>C (p.Cys268Arg) c.898T>C (p.Cys300Arg) n.910T>C c.526T>C (p.Cys176Arg) c.889T>C (p.Cys297Arg) n.730T>C c.1097T>C c.584T>C (n.584T>C) c.656T>C n.309T>C n.334T>C c.535T>C (p.Cys179Arg) c.836T>C n.522T>C c.843T>C c.724T>C (p.Cys242Arg) c.655T>C (p.Cys219Arg) c.338T>C n.482T>C n.1012T>C c.280T>C (p.Cys94Arg) | |
19 | g.33401841A>T | CA405224706 | PEPD | c.847T>A (p.Cys283Ser) c.802T>A (p.Cys268Ser) c.898T>A (p.Cys300Ser) n.910T>A c.526T>A (p.Cys176Ser) c.889T>A (p.Cys297Ser) n.730T>A c.1097T>A c.584T>A (n.584T>A) c.656T>A n.309T>A n.334T>A c.535T>A (p.Cys179Ser) c.836T>A n.522T>A c.843T>A c.724T>A (p.Cys242Ser) c.655T>A (p.Cys219Ser) c.338T>A n.482T>A n.1012T>A c.280T>A (p.Cys94Ser) | dbSNP |
19 | g.33401842G>A | CA506688153 | PEPD | c.846C>T (p.Tyr282=) c.801C>T (p.Tyr267=) c.897C>T (p.Tyr299=) n.909C>T c.525C>T (p.Tyr175=) c.888C>T (p.Tyr296=) n.729C>T c.1096C>T c.583C>T (n.583C>T) c.655C>T n.308C>T n.333C>T c.534C>T (p.Tyr178=) c.835C>T n.521C>T c.842C>T c.723C>T (p.Tyr241=) c.654C>T (p.Tyr218=) c.337C>T n.481C>T n.1011C>T c.279C>T (p.Tyr93=) | |
19 | g.33401842G>C | CA405224708 | PEPD | c.846C>G (p.Tyr282Ter) c.801C>G (p.Tyr267Ter) c.897C>G (p.Tyr299Ter) n.909C>G c.525C>G (p.Tyr175Ter) c.888C>G (p.Tyr296Ter) n.729C>G c.1096C>G c.583C>G (n.583C>G) c.655C>G n.308C>G n.333C>G c.534C>G (p.Tyr178Ter) c.835C>G n.521C>G c.842C>G c.723C>G (p.Tyr241Ter) c.654C>G (p.Tyr218Ter) c.337C>G n.481C>G n.1011C>G c.279C>G (p.Tyr93Ter) | |
19 | g.33401842G>T | CA405224710 | PEPD | c.846C>A (p.Tyr282Ter) c.801C>A (p.Tyr267Ter) c.897C>A (p.Tyr299Ter) n.909C>A c.525C>A (p.Tyr175Ter) c.888C>A (p.Tyr296Ter) n.729C>A c.1096C>A c.583C>A (n.583C>A) c.655C>A n.308C>A n.333C>A c.534C>A (p.Tyr178Ter) c.835C>A n.521C>A c.842C>A c.723C>A (p.Tyr241Ter) c.654C>A (p.Tyr218Ter) c.337C>A n.481C>A n.1011C>A c.279C>A (p.Tyr93Ter) | |
19 | g.33401843T>A | CA405224716 | PEPD | c.845A>T (p.Tyr282Phe) c.800A>T (p.Tyr267Phe) c.896A>T (p.Tyr299Phe) n.908A>T c.524A>T (p.Tyr175Phe) c.887A>T (p.Tyr296Phe) n.728A>T c.1095A>T c.582A>T (n.582A>T) c.654A>T n.307A>T n.332A>T c.533A>T (p.Tyr178Phe) c.834A>T n.520A>T c.841A>T c.722A>T (p.Tyr241Phe) c.653A>T (p.Tyr218Phe) c.336A>T n.480A>T n.1010A>T c.278A>T (p.Tyr93Phe) | |
19 | g.33401843T>C | CA405224714 | PEPD | c.845A>G (p.Tyr282Cys) c.800A>G (p.Tyr267Cys) c.896A>G (p.Tyr299Cys) n.908A>G c.524A>G (p.Tyr175Cys) c.887A>G (p.Tyr296Cys) n.728A>G c.1095A>G c.582A>G (n.582A>G) c.654A>G n.307A>G n.332A>G c.533A>G (p.Tyr178Cys) c.834A>G n.520A>G c.841A>G c.722A>G (p.Tyr241Cys) c.653A>G (p.Tyr218Cys) c.336A>G n.480A>G n.1010A>G c.278A>G (p.Tyr93Cys) | |
19 | g.33401843T>G | CA405224712 | PEPD | c.845A>C (p.Tyr282Ser) c.800A>C (p.Tyr267Ser) c.896A>C (p.Tyr299Ser) n.908A>C c.524A>C (p.Tyr175Ser) c.887A>C (p.Tyr296Ser) n.728A>C c.1095A>C c.582A>C (n.582A>C) c.654A>C n.307A>C n.332A>C c.533A>C (p.Tyr178Ser) c.834A>C n.520A>C c.841A>C c.722A>C (p.Tyr241Ser) c.653A>C (p.Tyr218Ser) c.336A>C n.480A>C n.1010A>C c.278A>C (p.Tyr93Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.33401843T= | CA2332706138 | PEPD | c.845A= (p.Tyr282=) c.800A= (p.Tyr267=) c.896A= (p.Tyr299=) n.908A= c.524A= (p.Tyr175=) c.887A= (p.Tyr296=) n.728A= c.1095A= c.582A= (n.582A=) c.654A= n.307A= n.332A= c.533A= (p.Tyr178=) c.834A= n.520A= c.841A= c.722A= (p.Tyr241=) c.653A= (p.Tyr218=) c.336A= n.480A= n.1010A= c.278A= (p.Tyr93=) | |
19 | g.33401844A>C | CA405224718 | PEPD | c.844T>G (p.Tyr282Asp) c.799T>G (p.Tyr267Asp) c.895T>G (p.Tyr299Asp) n.907T>G c.523T>G (p.Tyr175Asp) c.886T>G (p.Tyr296Asp) n.727T>G c.1094T>G c.581T>G (n.581T>G) c.653T>G n.306T>G n.331T>G c.532T>G (p.Tyr178Asp) c.833T>G n.519T>G c.840T>G c.721T>G (p.Tyr241Asp) c.652T>G (p.Tyr218Asp) c.335T>G n.479T>G n.1009T>G c.277T>G (p.Tyr93Asp) | |
19 | g.33401844A>G | CA405224722 | PEPD | c.844T>C (p.Tyr282His) c.799T>C (p.Tyr267His) c.895T>C (p.Tyr299His) n.907T>C c.523T>C (p.Tyr175His) c.886T>C (p.Tyr296His) n.727T>C c.1094T>C c.581T>C (n.581T>C) c.653T>C n.306T>C n.331T>C c.532T>C (p.Tyr178His) c.833T>C n.519T>C c.840T>C c.721T>C (p.Tyr241His) c.652T>C (p.Tyr218His) c.335T>C n.479T>C n.1009T>C c.277T>C (p.Tyr93His) | |
19 | g.33401844A>T | CA405224724 | PEPD | c.844T>A (p.Tyr282Asn) c.799T>A (p.Tyr267Asn) c.895T>A (p.Tyr299Asn) n.907T>A c.523T>A (p.Tyr175Asn) c.886T>A (p.Tyr296Asn) n.727T>A c.1094T>A c.581T>A (n.581T>A) c.653T>A n.306T>A n.331T>A c.532T>A (p.Tyr178Asn) c.833T>A n.519T>A c.840T>A c.721T>A (p.Tyr241Asn) c.652T>A (p.Tyr218Asn) c.335T>A n.479T>A n.1009T>A c.277T>A (p.Tyr93Asn) | |
19 | g.33401845A= | CA2332706139 | PEPD | c.843T= (p.Tyr281=) c.798T= (p.Tyr266=) c.894T= (p.Tyr298=) n.906T= c.522T= (p.Tyr174=) c.885T= (p.Tyr295=) n.726T= c.1093T= c.580T= (n.580T=) c.652T= n.305T= n.330T= c.531T= (p.Tyr177=) c.832T= n.518T= c.839T= c.720T= (p.Tyr240=) c.651T= (p.Tyr217=) c.334T= n.478T= n.1008T= c.276T= (p.Tyr92=) | |
19 | g.33401845A>C | CA405224726 | PEPD | c.843T>G (p.Tyr281Ter) c.798T>G (p.Tyr266Ter) c.894T>G (p.Tyr298Ter) n.906T>G c.522T>G (p.Tyr174Ter) c.885T>G (p.Tyr295Ter) n.726T>G c.1093T>G c.580T>G (n.580T>G) c.652T>G n.305T>G n.330T>G c.531T>G (p.Tyr177Ter) c.832T>G n.518T>G c.839T>G c.720T>G (p.Tyr240Ter) c.651T>G (p.Tyr217Ter) c.334T>G n.478T>G n.1008T>G c.276T>G (p.Tyr92Ter) | ClinVar |
19 | g.33401845A>G | CA9364097 | PEPD | c.843T>C (p.Tyr281=) c.798T>C (p.Tyr266=) c.894T>C (p.Tyr298=) n.906T>C c.522T>C (p.Tyr174=) c.885T>C (p.Tyr295=) n.726T>C c.1093T>C c.580T>C (n.580T>C) c.652T>C n.305T>C n.330T>C c.531T>C (p.Tyr177=) c.832T>C n.518T>C c.839T>C c.720T>C (p.Tyr240=) c.651T>C (p.Tyr217=) c.334T>C n.478T>C n.1008T>C c.276T>C (p.Tyr92=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.33401845A>T | CA405224729 | PEPD | c.843T>A (p.Tyr281Ter) c.798T>A (p.Tyr266Ter) c.894T>A (p.Tyr298Ter) n.906T>A c.522T>A (p.Tyr174Ter) c.885T>A (p.Tyr295Ter) n.726T>A c.1093T>A c.580T>A (n.580T>A) c.652T>A n.305T>A n.330T>A c.531T>A (p.Tyr177Ter) c.832T>A n.518T>A c.839T>A c.720T>A (p.Tyr240Ter) c.651T>A (p.Tyr217Ter) c.334T>A n.478T>A n.1008T>A c.276T>A (p.Tyr92Ter) | |
19 | g.33401846_33401847del | CA2642422065 | PEPD | c.842_843del (p.Tyr281LeufsTer26) c.797_798del (p.Tyr266LeufsTer26) c.893_894del (p.Tyr298LeufsTer26) n.905_906del c.521_522del (p.Tyr174LeufsTer26) c.884_885del (p.Tyr295LeufsTer26) n.725_726del c.1092_1093del c.579_580del (n.579_580del) c.651_652del n.304_305del n.329_330del c.530_531del (p.Tyr177LeufsTer?) c.831_832del n.517_518del c.838_839del c.719_720del (p.Tyr240LeufsTer26) c.650_651del (p.Tyr217LeufsTer26) c.333_334del n.477_478del n.1007_1008del c.275_276del (p.Tyr92LeufsTer?) | gnomAD v4 |
19 | g.33401846T>A | CA405224731 | PEPD | c.842A>T (p.Tyr281Phe) c.797A>T (p.Tyr266Phe) c.893A>T (p.Tyr298Phe) n.905A>T c.521A>T (p.Tyr174Phe) c.884A>T (p.Tyr295Phe) n.725A>T c.1092A>T c.579A>T (n.579A>T) c.651A>T n.304A>T n.329A>T c.530A>T (p.Tyr177Phe) c.831A>T n.517A>T c.838A>T c.719A>T (p.Tyr240Phe) c.650A>T (p.Tyr217Phe) c.333A>T n.477A>T n.1007A>T c.275A>T (p.Tyr92Phe) | |
19 | g.33401846T>C | CA9364098 | PEPD | c.842A>G (p.Tyr281Cys) c.797A>G (p.Tyr266Cys) c.893A>G (p.Tyr298Cys) n.905A>G c.521A>G (p.Tyr174Cys) c.884A>G (p.Tyr295Cys) n.725A>G c.1092A>G c.579A>G (n.579A>G) c.651A>G n.304A>G n.329A>G c.530A>G (p.Tyr177Cys) c.831A>G n.517A>G c.838A>G c.719A>G (p.Tyr240Cys) c.650A>G (p.Tyr217Cys) c.333A>G n.477A>G n.1007A>G c.275A>G (p.Tyr92Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.33401846T>G | CA405224732 | PEPD | c.842A>C (p.Tyr281Ser) c.797A>C (p.Tyr266Ser) c.893A>C (p.Tyr298Ser) n.905A>C c.521A>C (p.Tyr174Ser) c.884A>C (p.Tyr295Ser) n.725A>C c.1092A>C c.579A>C (n.579A>C) c.651A>C n.304A>C n.329A>C c.530A>C (p.Tyr177Ser) c.831A>C n.517A>C c.838A>C c.719A>C (p.Tyr240Ser) c.650A>C (p.Tyr217Ser) c.333A>C n.477A>C n.1007A>C c.275A>C (p.Tyr92Ser) | |
19 | g.33401846T= | CA2332706140 | PEPD | c.842A= (p.Tyr281=) c.797A= (p.Tyr266=) c.893A= (p.Tyr298=) n.905A= c.521A= (p.Tyr174=) c.884A= (p.Tyr295=) n.725A= c.1092A= c.579A= (n.579A=) c.651A= n.304A= n.329A= c.530A= (p.Tyr177=) c.831A= n.517A= c.838A= c.719A= (p.Tyr240=) c.650A= (p.Tyr217=) c.333A= n.477A= n.1007A= c.275A= (p.Tyr92=) | |
19 | g.33401847A= | CA2332706141 | PEPD | c.841T= (p.Tyr281=) c.796T= (p.Tyr266=) c.892T= (p.Tyr298=) n.904T= c.520T= (p.Tyr174=) c.883T= (p.Tyr295=) n.724T= c.1091T= c.578T= (n.578T=) c.650T= n.303T= n.328T= c.529T= (p.Tyr177=) c.830T= n.516T= c.837T= c.718T= (p.Tyr240=) c.649T= (p.Tyr217=) c.332T= n.476T= n.1006T= c.274T= (p.Tyr92=) | |
19 | g.33401847A>C | CA405224733 | PEPD | c.841T>G (p.Tyr281Asp) c.796T>G (p.Tyr266Asp) c.892T>G (p.Tyr298Asp) n.904T>G c.520T>G (p.Tyr174Asp) c.883T>G (p.Tyr295Asp) n.724T>G c.1091T>G c.578T>G (n.578T>G) c.650T>G n.303T>G n.328T>G c.529T>G (p.Tyr177Asp) c.830T>G n.516T>G c.837T>G c.718T>G (p.Tyr240Asp) c.649T>G (p.Tyr217Asp) c.332T>G n.476T>G n.1006T>G c.274T>G (p.Tyr92Asp) | gnomAD v4 |
19 | g.33401847A>G | CA405224734 | PEPD | c.841T>C (p.Tyr281His) c.796T>C (p.Tyr266His) c.892T>C (p.Tyr298His) n.904T>C c.520T>C (p.Tyr174His) c.883T>C (p.Tyr295His) n.724T>C c.1091T>C c.578T>C (n.578T>C) c.650T>C n.303T>C n.328T>C c.529T>C (p.Tyr177His) c.830T>C n.516T>C c.837T>C c.718T>C (p.Tyr240His) c.649T>C (p.Tyr217His) c.332T>C n.476T>C n.1006T>C c.274T>C (p.Tyr92His) | |
19 | g.33401847A>T | CA9364099 | PEPD | c.841T>A (p.Tyr281Asn) c.796T>A (p.Tyr266Asn) c.892T>A (p.Tyr298Asn) n.904T>A c.520T>A (p.Tyr174Asn) c.883T>A (p.Tyr295Asn) n.724T>A c.1091T>A c.578T>A (n.578T>A) c.650T>A n.303T>A n.328T>A c.529T>A (p.Tyr177Asn) c.830T>A n.516T>A c.837T>A c.718T>A (p.Tyr240Asn) c.649T>A (p.Tyr217Asn) c.332T>A n.476T>A n.1006T>A c.274T>A (p.Tyr92Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401849_33401852del | CA2573334480 | PEPD | c.838_841del (p.Glu280IlefsTer?) c.793_796del (p.Glu265IlefsTer?) c.889_892del (p.Glu297IlefsTer?) n.901_904del c.517_520del (p.Glu173IlefsTer?) c.880_883del (p.Glu294IlefsTer?) n.721_724del c.1088_1091del c.575_578del (n.575_578del) c.647_650del n.300_303del n.325_328del c.526_529del (p.Glu176IlefsTer?) c.827_830del n.513_516del c.834_837del c.715_718del (p.Glu239IlefsTer?) c.646_649del (p.Glu216IlefsTer?) c.329_332del n.473_476del n.1003_1006del c.271_274del (p.Glu91IlefsTer?) | ClinVar gnomAD v4 |
19 | g.33401848C>A | CA405224735 | PEPD | c.840G>T (p.Glu280Asp) c.795G>T (p.Glu265Asp) c.891G>T (p.Glu297Asp) n.903G>T c.519G>T (p.Glu173Asp) c.882G>T (p.Glu294Asp) n.723G>T c.1090G>T c.577G>T (n.577G>T) c.649G>T n.302G>T n.327G>T c.528G>T (p.Glu176Asp) c.829G>T n.515G>T c.836G>T c.717G>T (p.Glu239Asp) c.648G>T (p.Glu216Asp) c.331G>T n.475G>T n.1005G>T c.273G>T (p.Glu91Asp) | |
19 | g.33401848C>G | CA405224736 | PEPD | c.840G>C (p.Glu280Asp) c.795G>C (p.Glu265Asp) c.891G>C (p.Glu297Asp) n.903G>C c.519G>C (p.Glu173Asp) c.882G>C (p.Glu294Asp) n.723G>C c.1090G>C c.577G>C (n.577G>C) c.649G>C n.302G>C n.327G>C c.528G>C (p.Glu176Asp) c.829G>C n.515G>C c.836G>C c.717G>C (p.Glu239Asp) c.648G>C (p.Glu216Asp) c.331G>C n.475G>C n.1005G>C c.273G>C (p.Glu91Asp) | |
19 | g.33401848C>T | CA506688181 | PEPD | c.840G>A (p.Glu280=) c.795G>A (p.Glu265=) c.891G>A (p.Glu297=) n.903G>A c.519G>A (p.Glu173=) c.882G>A (p.Glu294=) n.723G>A c.1090G>A c.577G>A (n.577G>A) c.649G>A n.302G>A n.327G>A c.528G>A (p.Glu176=) c.829G>A n.515G>A c.836G>A c.717G>A (p.Glu239=) c.648G>A (p.Glu216=) c.331G>A n.475G>A n.1005G>A c.273G>A (p.Glu91=) | ClinVar |
19 | g.33401849T>A | CA405224739 | PEPD | c.839A>T (p.Glu280Val) c.794A>T (p.Glu265Val) c.890A>T (p.Glu297Val) n.902A>T c.518A>T (p.Glu173Val) c.881A>T (p.Glu294Val) n.722A>T c.1089A>T c.576A>T (n.576A>T) c.648A>T n.301A>T n.326A>T c.527A>T (p.Glu176Val) c.828A>T n.514A>T c.835A>T c.716A>T (p.Glu239Val) c.647A>T (p.Glu216Val) c.330A>T n.474A>T n.1004A>T c.272A>T (p.Glu91Val) | |
19 | g.33401849T>C | CA405224741 | PEPD | c.839A>G (p.Glu280Gly) c.794A>G (p.Glu265Gly) c.890A>G (p.Glu297Gly) n.902A>G c.518A>G (p.Glu173Gly) c.881A>G (p.Glu294Gly) n.722A>G c.1089A>G c.576A>G (n.576A>G) c.648A>G n.301A>G n.326A>G c.527A>G (p.Glu176Gly) c.828A>G n.514A>G c.835A>G c.716A>G (p.Glu239Gly) c.647A>G (p.Glu216Gly) c.330A>G n.474A>G n.1004A>G c.272A>G (p.Glu91Gly) | |
19 | g.33401849T>G | CA405224737 | PEPD | c.839A>C (p.Glu280Ala) c.794A>C (p.Glu265Ala) c.890A>C (p.Glu297Ala) n.902A>C c.518A>C (p.Glu173Ala) c.881A>C (p.Glu294Ala) n.722A>C c.1089A>C c.576A>C (n.576A>C) c.648A>C n.301A>C n.326A>C c.527A>C (p.Glu176Ala) c.828A>C n.514A>C c.835A>C c.716A>C (p.Glu239Ala) c.647A>C (p.Glu216Ala) c.330A>C n.474A>C n.1004A>C c.272A>C (p.Glu91Ala) | dbSNP gnomAD v4 |
19 | g.33401850C>A | CA405224743 | PEPD | c.838G>T (p.Glu280Ter) c.793G>T (p.Glu265Ter) c.889G>T (p.Glu297Ter) n.901G>T c.517G>T (p.Glu173Ter) c.880G>T (p.Glu294Ter) n.721G>T c.1088G>T c.575G>T (n.575G>T) c.647G>T n.300G>T n.325G>T c.526G>T (p.Glu176Ter) c.827G>T n.513G>T c.834G>T c.715G>T (p.Glu239Ter) c.646G>T (p.Glu216Ter) c.329G>T n.473G>T n.1003G>T c.271G>T (p.Glu91Ter) | dbSNP |
19 | g.33401850C= | CA2332706142 | PEPD | c.838G= (p.Glu280=) c.793G= (p.Glu265=) c.889G= (p.Glu297=) n.901G= c.517G= (p.Glu173=) c.880G= (p.Glu294=) n.721G= c.1088G= c.575G= (n.575G=) c.647G= n.300G= n.325G= c.526G= (p.Glu176=) c.827G= n.513G= c.834G= c.715G= (p.Glu239=) c.646G= (p.Glu216=) c.329G= n.473G= n.1003G= c.271G= (p.Glu91=) | |
19 | g.33401850C>G | CA405224747 | PEPD | c.838G>C (p.Glu280Gln) c.793G>C (p.Glu265Gln) c.889G>C (p.Glu297Gln) n.901G>C c.517G>C (p.Glu173Gln) c.880G>C (p.Glu294Gln) n.721G>C c.1088G>C c.575G>C (n.575G>C) c.647G>C n.300G>C n.325G>C c.526G>C (p.Glu176Gln) c.827G>C n.513G>C c.834G>C c.715G>C (p.Glu239Gln) c.646G>C (p.Glu216Gln) c.329G>C n.473G>C n.1003G>C c.271G>C (p.Glu91Gln) | gnomAD v4 |
19 | g.33401850C>T | CA405224745 | PEPD | c.838G>A (p.Glu280Lys) c.793G>A (p.Glu265Lys) c.889G>A (p.Glu297Lys) n.901G>A c.517G>A (p.Glu173Lys) c.880G>A (p.Glu294Lys) n.721G>A c.1088G>A c.575G>A (n.575G>A) c.647G>A n.300G>A n.325G>A c.526G>A (p.Glu176Lys) c.827G>A n.513G>A c.834G>A c.715G>A (p.Glu239Lys) c.646G>A (p.Glu216Lys) c.329G>A n.473G>A n.1003G>A c.271G>A (p.Glu91Lys) | gnomAD v4 |
19 | g.33401851A>C | CA506688187 | PEPD | c.837T>G (p.Gly279=) c.792T>G (p.Gly264=) c.888T>G (p.Gly296=) n.900T>G c.516T>G (p.Gly172=) c.879T>G (p.Gly293=) n.720T>G c.1087T>G c.574T>G (n.574T>G) c.646T>G n.299T>G n.324T>G c.525T>G (p.Gly175=) c.826T>G n.512T>G c.833T>G c.714T>G (p.Gly238=) c.645T>G (p.Gly215=) c.328T>G n.472T>G n.1002T>G c.270T>G (p.Gly90=) | gnomAD v4 |
19 | g.33401851A>G | CA506688189 | PEPD | c.837T>C (p.Gly279=) c.792T>C (p.Gly264=) c.888T>C (p.Gly296=) n.900T>C c.516T>C (p.Gly172=) c.879T>C (p.Gly293=) n.720T>C c.1087T>C c.574T>C (n.574T>C) c.646T>C n.299T>C n.324T>C c.525T>C (p.Gly175=) c.826T>C n.512T>C c.833T>C c.714T>C (p.Gly238=) c.645T>C (p.Gly215=) c.328T>C n.472T>C n.1002T>C c.270T>C (p.Gly90=) | |
19 | g.33401851A>T | CA506688185 | PEPD | c.837T>A (p.Gly279=) c.792T>A (p.Gly264=) c.888T>A (p.Gly296=) n.900T>A c.516T>A (p.Gly172=) c.879T>A (p.Gly293=) n.720T>A c.1087T>A c.574T>A (n.574T>A) c.646T>A n.299T>A n.324T>A c.525T>A (p.Gly175=) c.826T>A n.512T>A c.833T>A c.714T>A (p.Gly238=) c.645T>A (p.Gly215=) c.328T>A n.472T>A n.1002T>A c.270T>A (p.Gly90=) | |
19 | g.33401852C>A | CA405224750 | PEPD | c.836G>T (p.Gly279Val) c.791G>T (p.Gly264Val) c.887G>T (p.Gly296Val) n.899G>T c.515G>T (p.Gly172Val) c.878G>T (p.Gly293Val) n.719G>T c.1086G>T c.573G>T (n.573G>T) c.645G>T n.298G>T n.323G>T c.524G>T (p.Gly175Val) c.825G>T n.511G>T c.832G>T c.713G>T (p.Gly238Val) c.644G>T (p.Gly215Val) c.327G>T n.471G>T n.1001G>T c.269G>T (p.Gly90Val) | |
19 | g.33401852C>G | CA405224754 | PEPD | c.836G>C (p.Gly279Ala) c.791G>C (p.Gly264Ala) c.887G>C (p.Gly296Ala) n.899G>C c.515G>C (p.Gly172Ala) c.878G>C (p.Gly293Ala) n.719G>C c.1086G>C c.573G>C (n.573G>C) c.645G>C n.298G>C n.323G>C c.524G>C (p.Gly175Ala) c.825G>C n.511G>C c.832G>C c.713G>C (p.Gly238Ala) c.644G>C (p.Gly215Ala) c.327G>C n.471G>C n.1001G>C c.269G>C (p.Gly90Ala) | |
19 | g.33401852C>T | CA405224752 | PEPD | c.836G>A (p.Gly279Asp) c.791G>A (p.Gly264Asp) c.887G>A (p.Gly296Asp) n.899G>A c.515G>A (p.Gly172Asp) c.878G>A (p.Gly293Asp) n.719G>A c.1086G>A c.573G>A (n.573G>A) c.645G>A n.298G>A n.323G>A c.524G>A (p.Gly175Asp) c.825G>A n.511G>A c.832G>A c.713G>A (p.Gly238Asp) c.644G>A (p.Gly215Asp) c.327G>A n.471G>A n.1001G>A c.269G>A (p.Gly90Asp) | |
19 | g.33401853C>A | CA405224757 | PEPD | c.835G>T (p.Gly279Cys) c.790G>T (p.Gly264Cys) c.886G>T (p.Gly296Cys) n.898G>T c.514G>T (p.Gly172Cys) c.877G>T (p.Gly293Cys) n.718G>T c.1085G>T c.572G>T (n.572G>T) c.644G>T n.297G>T n.322G>T c.523G>T (p.Gly175Cys) c.824G>T n.510G>T c.831G>T c.712G>T (p.Gly238Cys) c.643G>T (p.Gly215Cys) c.326G>T n.470G>T n.1000G>T c.268G>T (p.Gly90Cys) | |
19 | g.33401853C= | CA2332706143 | PEPD | c.835G= (p.Gly279=) c.790G= (p.Gly264=) c.886G= (p.Gly296=) n.898G= c.514G= (p.Gly172=) c.877G= (p.Gly293=) n.718G= c.1085G= c.572G= (n.572G=) c.644G= n.297G= n.322G= c.523G= (p.Gly175=) c.824G= n.510G= c.831G= c.712G= (p.Gly238=) c.643G= (p.Gly215=) c.326G= n.470G= n.1000G= c.268G= (p.Gly90=) | |
19 | g.33401853C>G | CA405224759 | PEPD | c.835G>C (p.Gly279Arg) c.790G>C (p.Gly264Arg) c.886G>C (p.Gly296Arg) n.898G>C c.514G>C (p.Gly172Arg) c.877G>C (p.Gly293Arg) n.718G>C c.1085G>C c.572G>C (n.572G>C) c.644G>C n.297G>C n.322G>C c.523G>C (p.Gly175Arg) c.824G>C n.510G>C c.831G>C c.712G>C (p.Gly238Arg) c.643G>C (p.Gly215Arg) c.326G>C n.470G>C n.1000G>C c.268G>C (p.Gly90Arg) | |
19 | g.33401853C>T | CA9364100 | PEPD | c.835G>A (p.Gly279Ser) c.790G>A (p.Gly264Ser) c.886G>A (p.Gly296Ser) n.898G>A c.514G>A (p.Gly172Ser) c.877G>A (p.Gly293Ser) n.718G>A c.1085G>A c.572G>A (n.572G>A) c.644G>A n.297G>A n.322G>A c.523G>A (p.Gly175Ser) c.824G>A n.510G>A c.831G>A c.712G>A (p.Gly238Ser) c.643G>A (p.Gly215Ser) c.326G>A n.470G>A n.1000G>A c.268G>A (p.Gly90Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.33401854G>A | CA9364101 | PEPD | c.834C>T (p.Gly278=) c.789C>T (p.Gly263=) c.885C>T (p.Gly295=) n.897C>T c.513C>T (p.Gly171=) c.876C>T (p.Gly292=) n.717C>T c.1084C>T c.571C>T (n.571C>T) c.643C>T n.296C>T n.321C>T c.522C>T (p.Gly174=) c.823C>T n.509C>T c.830C>T c.711C>T (p.Gly237=) c.642C>T (p.Gly214=) c.325C>T n.469C>T n.999C>T c.267C>T (p.Gly89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401854G>C | CA506688197 | PEPD | c.834C>G (p.Gly278=) c.789C>G (p.Gly263=) c.885C>G (p.Gly295=) n.897C>G c.513C>G (p.Gly171=) c.876C>G (p.Gly292=) n.717C>G c.1084C>G c.571C>G (n.571C>G) c.643C>G n.296C>G n.321C>G c.522C>G (p.Gly174=) c.823C>G n.509C>G c.830C>G c.711C>G (p.Gly237=) c.642C>G (p.Gly214=) c.325C>G n.469C>G n.999C>G c.267C>G (p.Gly89=) | |
19 | g.33401854G= | CA2332706144 | PEPD | c.834C= (p.Gly278=) c.789C= (p.Gly263=) c.885C= (p.Gly295=) n.897C= c.513C= (p.Gly171=) c.876C= (p.Gly292=) n.717C= c.1084C= c.571C= (n.571C=) c.643C= n.296C= n.321C= c.522C= (p.Gly174=) c.823C= n.509C= c.830C= c.711C= (p.Gly237=) c.642C= (p.Gly214=) c.325C= n.469C= n.999C= c.267C= (p.Gly89=) | |
19 | g.33401854G>T | CA506688199 | PEPD | c.834C>A (p.Gly278=) c.789C>A (p.Gly263=) c.885C>A (p.Gly295=) n.897C>A c.513C>A (p.Gly171=) c.876C>A (p.Gly292=) n.717C>A c.1084C>A c.571C>A (n.571C>A) c.643C>A n.296C>A n.321C>A c.522C>A (p.Gly174=) c.823C>A n.509C>A c.830C>A c.711C>A (p.Gly237=) c.642C>A (p.Gly214=) c.325C>A n.469C>A n.999C>A c.267C>A (p.Gly89=) | |
19 | g.33401855C>A | CA405224764 | PEPD | c.833G>T (p.Gly278Val) c.788G>T (p.Gly263Val) c.884G>T (p.Gly295Val) n.896G>T c.512G>T (p.Gly171Val) c.875G>T (p.Gly292Val) n.716G>T c.1083G>T c.570G>T (n.570G>T) c.642G>T n.295G>T n.320G>T c.521G>T (p.Gly174Val) c.822G>T n.508G>T c.829G>T c.710G>T (p.Gly237Val) c.641G>T (p.Gly214Val) c.324G>T n.468G>T n.998G>T c.266G>T (p.Gly89Val) | |
19 | g.33401855C= | CA2332706145 | PEPD | c.833G= (p.Gly278=) c.788G= (p.Gly263=) c.884G= (p.Gly295=) n.896G= c.512G= (p.Gly171=) c.875G= (p.Gly292=) n.716G= c.1083G= c.570G= (n.570G=) c.642G= n.295G= n.320G= c.521G= (p.Gly174=) c.822G= n.508G= c.829G= c.710G= (p.Gly237=) c.641G= (p.Gly214=) c.324G= n.468G= n.998G= c.266G= (p.Gly89=) | |
19 | g.33401855C>G | CA405224762 | PEPD | c.833G>C (p.Gly278Ala) c.788G>C (p.Gly263Ala) c.884G>C (p.Gly295Ala) n.896G>C c.512G>C (p.Gly171Ala) c.875G>C (p.Gly292Ala) n.716G>C c.1083G>C c.570G>C (n.570G>C) c.642G>C n.295G>C n.320G>C c.521G>C (p.Gly174Ala) c.822G>C n.508G>C c.829G>C c.710G>C (p.Gly237Ala) c.641G>C (p.Gly214Ala) c.324G>C n.468G>C n.998G>C c.266G>C (p.Gly89Ala) | |
19 | g.33401855C>T | CA214914 | PEPD | c.833G>A (p.Gly278Asp) c.788G>A (p.Gly263Asp) c.884G>A (p.Gly295Asp) n.896G>A c.512G>A (p.Gly171Asp) c.875G>A (p.Gly292Asp) n.716G>A c.1083G>A c.570G>A (n.570G>A) c.642G>A n.295G>A n.320G>A c.521G>A (p.Gly174Asp) c.822G>A n.508G>A c.829G>A c.710G>A (p.Gly237Asp) c.641G>A (p.Gly214Asp) c.324G>A n.468G>A n.998G>A c.266G>A (p.Gly89Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401856C>A | CA405224766 | PEPD | c.832G>T (p.Gly278Cys) c.787G>T (p.Gly263Cys) c.883G>T (p.Gly295Cys) n.895G>T c.511G>T (p.Gly171Cys) c.874G>T (p.Gly292Cys) n.715G>T c.1082G>T c.569G>T (n.569G>T) c.641G>T n.294G>T n.319G>T c.520G>T (p.Gly174Cys) c.821G>T n.507G>T c.828G>T c.709G>T (p.Gly237Cys) c.640G>T (p.Gly214Cys) c.323G>T n.467G>T n.997G>T c.265G>T (p.Gly89Cys) | |
19 | g.33401856C>G | CA405224768 | PEPD | c.832G>C (p.Gly278Arg) c.787G>C (p.Gly263Arg) c.883G>C (p.Gly295Arg) n.895G>C c.511G>C (p.Gly171Arg) c.874G>C (p.Gly292Arg) n.715G>C c.1082G>C c.569G>C (n.569G>C) c.641G>C n.294G>C n.319G>C c.520G>C (p.Gly174Arg) c.821G>C n.507G>C c.828G>C c.709G>C (p.Gly237Arg) c.640G>C (p.Gly214Arg) c.323G>C n.467G>C n.997G>C c.265G>C (p.Gly89Arg) | |
19 | g.33401856C>T | CA405224770 | PEPD | c.832G>A (p.Gly278Ser) c.787G>A (p.Gly263Ser) c.883G>A (p.Gly295Ser) n.895G>A c.511G>A (p.Gly171Ser) c.874G>A (p.Gly292Ser) n.715G>A c.1082G>A c.569G>A (n.569G>A) c.641G>A n.294G>A n.319G>A c.520G>A (p.Gly174Ser) c.821G>A n.507G>A c.828G>A c.709G>A (p.Gly237Ser) c.640G>A (p.Gly214Ser) c.323G>A n.467G>A n.997G>A c.265G>A (p.Gly89Ser) | |
19 | g.33401857C>A | CA405224771 | PEPD | c.831G>T (p.Met277Ile) c.786G>T (p.Met262Ile) c.882G>T (p.Met294Ile) n.894G>T c.510G>T (p.Met170Ile) c.873G>T (p.Met291Ile) n.714G>T c.1081G>T c.568G>T (n.568G>T) c.640G>T n.293G>T n.318G>T c.519G>T (p.Met173Ile) c.820G>T n.506G>T c.827G>T c.708G>T (p.Met236Ile) c.639G>T (p.Met213Ile) c.322G>T n.466G>T n.996G>T c.264G>T (p.Met88Ile) | |
19 | g.33401857C>G | CA405224773 | PEPD | c.831G>C (p.Met277Ile) c.786G>C (p.Met262Ile) c.882G>C (p.Met294Ile) n.894G>C c.510G>C (p.Met170Ile) c.873G>C (p.Met291Ile) n.714G>C c.1081G>C c.568G>C (n.568G>C) c.640G>C n.293G>C n.318G>C c.519G>C (p.Met173Ile) c.820G>C n.506G>C c.827G>C c.708G>C (p.Met236Ile) c.639G>C (p.Met213Ile) c.322G>C n.466G>C n.996G>C c.264G>C (p.Met88Ile) | |
19 | g.33401857C>T | CA405224775 | PEPD | c.831G>A (p.Met277Ile) c.786G>A (p.Met262Ile) c.882G>A (p.Met294Ile) n.894G>A c.510G>A (p.Met170Ile) c.873G>A (p.Met291Ile) n.714G>A c.1081G>A c.568G>A (n.568G>A) c.640G>A n.293G>A n.318G>A c.519G>A (p.Met173Ile) c.820G>A n.506G>A c.827G>A c.708G>A (p.Met236Ile) c.639G>A (p.Met213Ile) c.322G>A n.466G>A n.996G>A c.264G>A (p.Met88Ile) | |
19 | g.33401858A= | CA2332706146 | PEPD | c.830T= (p.Met277=) c.785T= (p.Met262=) c.881T= (p.Met294=) n.893T= c.509T= (p.Met170=) c.872T= (p.Met291=) n.713T= c.1080T= c.567T= (n.567T=) c.639T= n.292T= n.317T= c.518T= (p.Met173=) c.819T= n.505T= c.826T= c.707T= (p.Met236=) c.638T= (p.Met213=) c.321T= n.465T= n.995T= c.263T= (p.Met88=) | |
19 | g.33401858A>C | CA405224777 | PEPD | c.830T>G (p.Met277Arg) c.785T>G (p.Met262Arg) c.881T>G (p.Met294Arg) n.893T>G c.509T>G (p.Met170Arg) c.872T>G (p.Met291Arg) n.713T>G c.1080T>G c.567T>G (n.567T>G) c.639T>G n.292T>G n.317T>G c.518T>G (p.Met173Arg) c.819T>G n.505T>G c.826T>G c.707T>G (p.Met236Arg) c.638T>G (p.Met213Arg) c.321T>G n.465T>G n.995T>G c.263T>G (p.Met88Arg) | gnomAD v4 |
19 | g.33401858A>G | CA405224778 | PEPD | c.830T>C (p.Met277Thr) c.785T>C (p.Met262Thr) c.881T>C (p.Met294Thr) n.893T>C c.509T>C (p.Met170Thr) c.872T>C (p.Met291Thr) n.713T>C c.1080T>C c.567T>C (n.567T>C) c.639T>C n.292T>C n.317T>C c.518T>C (p.Met173Thr) c.819T>C n.505T>C c.826T>C c.707T>C (p.Met236Thr) c.638T>C (p.Met213Thr) c.321T>C n.465T>C n.995T>C c.263T>C (p.Met88Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.33401858A>T | CA405224779 | PEPD | c.830T>A (p.Met277Lys) c.785T>A (p.Met262Lys) c.881T>A (p.Met294Lys) n.893T>A c.509T>A (p.Met170Lys) c.872T>A (p.Met291Lys) n.713T>A c.1080T>A c.567T>A (n.567T>A) c.639T>A n.292T>A n.317T>A c.518T>A (p.Met173Lys) c.819T>A n.505T>A c.826T>A c.707T>A (p.Met236Lys) c.638T>A (p.Met213Lys) c.321T>A n.465T>A n.995T>A c.263T>A (p.Met88Lys) | |
19 | g.33401859T>A | CA9364102 | PEPD | c.829A>T (p.Met277Leu) c.784A>T (p.Met262Leu) c.880A>T (p.Met294Leu) n.892A>T c.508A>T (p.Met170Leu) c.871A>T (p.Met291Leu) n.712A>T c.1079A>T c.566A>T (n.566A>T) c.638A>T n.291A>T n.316A>T c.517A>T (p.Met173Leu) c.818A>T n.504A>T c.825A>T c.706A>T (p.Met236Leu) c.637A>T (p.Met213Leu) c.320A>T n.464A>T n.994A>T c.262A>T (p.Met88Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.33401859T>C | CA405224783 | PEPD | c.829A>G (p.Met277Val) c.784A>G (p.Met262Val) c.880A>G (p.Met294Val) n.892A>G c.508A>G (p.Met170Val) c.871A>G (p.Met291Val) n.712A>G c.1079A>G c.566A>G (n.566A>G) c.638A>G n.291A>G n.316A>G c.517A>G (p.Met173Val) c.818A>G n.504A>G c.825A>G c.706A>G (p.Met236Val) c.637A>G (p.Met213Val) c.320A>G n.464A>G n.994A>G c.262A>G (p.Met88Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.33401859T>G | CA405224781 | PEPD | c.829A>C (p.Met277Leu) c.784A>C (p.Met262Leu) c.880A>C (p.Met294Leu) n.892A>C c.508A>C (p.Met170Leu) c.871A>C (p.Met291Leu) n.712A>C c.1079A>C c.566A>C (n.566A>C) c.638A>C n.291A>C n.316A>C c.517A>C (p.Met173Leu) c.818A>C n.504A>C c.825A>C c.706A>C (p.Met236Leu) c.637A>C (p.Met213Leu) c.320A>C n.464A>C n.994A>C c.262A>C (p.Met88Leu) | |
19 | g.33401859T= | CA2332706147 | PEPD | c.829A= (p.Met277=) c.784A= (p.Met262=) c.880A= (p.Met294=) n.892A= c.508A= (p.Met170=) c.871A= (p.Met291=) n.712A= c.1079A= c.566A= (n.566A=) c.638A= n.291A= n.316A= c.517A= (p.Met173=) c.818A= n.504A= c.825A= c.706A= (p.Met236=) c.637A= (p.Met213=) c.320A= n.464A= n.994A= c.262A= (p.Met88=) | |
19 | g.33401860G>A | CA9364103 | PEPD | c.828C>T (p.Asp276=) c.783C>T (p.Asp261=) c.879C>T (p.Asp293=) n.891C>T c.507C>T (p.Asp169=) c.870C>T (p.Asp290=) n.711C>T c.1078C>T c.565C>T (n.565C>T) c.637C>T n.290C>T n.315C>T c.516C>T (p.Asp172=) c.817C>T n.503C>T c.824C>T c.705C>T (p.Asp235=) c.636C>T (p.Asp212=) c.319C>T n.463C>T n.993C>T c.261C>T (p.Asp87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.33401860G>C | CA405224786 | PEPD | c.828C>G (p.Asp276Glu) c.783C>G (p.Asp261Glu) c.879C>G (p.Asp293Glu) n.891C>G c.507C>G (p.Asp169Glu) c.870C>G (p.Asp290Glu) n.711C>G c.1078C>G c.565C>G (n.565C>G) c.637C>G n.290C>G n.315C>G c.516C>G (p.Asp172Glu) c.817C>G n.503C>G c.824C>G c.705C>G (p.Asp235Glu) c.636C>G (p.Asp212Glu) c.319C>G n.463C>G n.993C>G c.261C>G (p.Asp87Glu) | |
19 | g.33401860G= | CA2332706148 | PEPD | c.828C= (p.Asp276=) c.783C= (p.Asp261=) c.879C= (p.Asp293=) n.891C= c.507C= (p.Asp169=) c.870C= (p.Asp290=) n.711C= c.1078C= c.565C= (n.565C=) c.637C= n.290C= n.315C= c.516C= (p.Asp172=) c.817C= n.503C= c.824C= c.705C= (p.Asp235=) c.636C= (p.Asp212=) c.319C= n.463C= n.993C= c.261C= (p.Asp87=) | |
19 | g.33401860G>T | CA405224788 | PEPD | c.828C>A (p.Asp276Glu) c.783C>A (p.Asp261Glu) c.879C>A (p.Asp293Glu) n.891C>A c.507C>A (p.Asp169Glu) c.870C>A (p.Asp290Glu) n.711C>A c.1078C>A c.565C>A (n.565C>A) c.637C>A n.290C>A n.315C>A c.516C>A (p.Asp172Glu) c.817C>A n.503C>A c.824C>A c.705C>A (p.Asp235Glu) c.636C>A (p.Asp212Glu) c.319C>A n.463C>A n.993C>A c.261C>A (p.Asp87Glu) |