Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.33401738_33401778dupCA2735804665PEPDc.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
19g.33401758C>ACA506687834PEPDc.930G>T (p.Leu310=)
c.885G>T (p.Leu295=)
c.981G>T (p.Leu327=)
n.993G>T
c.609G>T (p.Leu203=)
c.972G>T (p.Leu324=)
n.813G>T
c.1180G>T
c.667G>T (n.667G>T)
c.739G>T
n.392G>T
n.417G>T
c.919G>T
n.605G>T
c.926G>T
c.807G>T (p.Leu269=)
c.738G>T (p.Leu246=)
c.421G>T
19g.33401758C>GCA506687836PEPDc.930G>C (p.Leu310=)
c.885G>C (p.Leu295=)
c.981G>C (p.Leu327=)
n.993G>C
c.609G>C (p.Leu203=)
c.972G>C (p.Leu324=)
n.813G>C
c.1180G>C
c.667G>C (n.667G>C)
c.739G>C
n.392G>C
n.417G>C
c.919G>C
n.605G>C
c.926G>C
c.807G>C (p.Leu269=)
c.738G>C (p.Leu246=)
c.421G>C
19g.33401758C>TCA506687837PEPDc.930G>A (p.Leu310=)
c.885G>A (p.Leu295=)
c.981G>A (p.Leu327=)
n.993G>A
c.609G>A (p.Leu203=)
c.972G>A (p.Leu324=)
n.813G>A
c.1180G>A
c.667G>A (n.667G>A)
c.739G>A
n.392G>A
n.417G>A
c.919G>A
n.605G>A
c.926G>A
c.807G>A (p.Leu269=)
c.738G>A (p.Leu246=)
c.421G>A
19g.33401759A=CA2332706099PEPDc.929T= (p.Leu310=)
c.884T= (p.Leu295=)
c.980T= (p.Leu327=)
n.992T=
c.608T= (p.Leu203=)
c.971T= (p.Leu324=)
n.812T=
c.1179T=
c.666T= (n.666T=)
c.738T=
n.391T=
n.416T=
c.918T=
n.604T=
c.925T=
c.806T= (p.Leu269=)
c.737T= (p.Leu246=)
c.420T=
19g.33401759A>CCA405224160PEPDc.929T>G (p.Leu310Arg)
c.884T>G (p.Leu295Arg)
c.980T>G (p.Leu327Arg)
n.992T>G
c.608T>G (p.Leu203Arg)
c.971T>G (p.Leu324Arg)
n.812T>G
c.1179T>G
c.666T>G (n.666T>G)
c.738T>G
n.391T>G
n.416T>G
c.918T>G
n.604T>G
c.925T>G
c.806T>G (p.Leu269Arg)
c.737T>G (p.Leu246Arg)
c.420T>G
19g.33401759A>GCA405224162PEPDc.929T>C (p.Leu310Pro)
c.884T>C (p.Leu295Pro)
c.980T>C (p.Leu327Pro)
n.992T>C
c.608T>C (p.Leu203Pro)
c.971T>C (p.Leu324Pro)
n.812T>C
c.1179T>C
c.666T>C (n.666T>C)
c.738T>C
n.391T>C
n.416T>C
c.918T>C
n.604T>C
c.925T>C
c.806T>C (p.Leu269Pro)
c.737T>C (p.Leu246Pro)
c.420T>C
 dbSNP
19g.33401759A>TCA405224157PEPDc.929T>A (p.Leu310Gln)
c.884T>A (p.Leu295Gln)
c.980T>A (p.Leu327Gln)
n.992T>A
c.608T>A (p.Leu203Gln)
c.971T>A (p.Leu324Gln)
n.812T>A
c.1179T>A
c.666T>A (n.666T>A)
c.738T>A
n.391T>A
n.416T>A
c.918T>A
n.604T>A
c.925T>A
c.806T>A (p.Leu269Gln)
c.737T>A (p.Leu246Gln)
c.420T>A
19g.33401760G>ACA506687842PEPDc.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
19g.33401760G>CCA405224166PEPDc.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
19g.33401760G>TCA405224167PEPDc.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
19g.33401761C>ACA506687849PEPDc.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
19g.33401761C>GCA506687848PEPDc.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
19g.33401761C>TCA506687846PEPDc.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
19g.33401762A>CCA405224169PEPDc.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
19g.33401762A>GCA405224172PEPDc.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
19g.33401762A>TCA405224175PEPDc.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
19g.33401763C>ACA405224179PEPDc.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
19g.33401763C>GCA405224185PEPDc.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
19g.33401763C>TCA405224187PEPDc.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
19g.33401764T>ACA506687858PEPDc.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
19g.33401764T>CCA506687860PEPDc.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
19g.33401764T>GCA506687861PEPDc.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
19g.33401764T=CA2332706100PEPDc.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=
19g.33401765G>ACA405224188PEPDc.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
19g.33401765G>CCA405224189PEPDc.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
19g.33401765G>TCA405224196PEPDc.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
19g.33401766C>ACA405224204PEPDc.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
19g.33401766C>GCA405224202PEPDc.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
19g.33401766C>TCA405224199PEPDc.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
19g.33401767C>ACA405224206PEPDc.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
19g.33401767C=CA2332706101PEPDc.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=
19g.33401767C>GCA405224209PEPDc.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
19g.33401767C>TCA506687871PEPDc.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
19g.33401768T>ACA405224213PEPDc.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
19g.33401768T>CCA405224216PEPDc.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
19g.33401768T>GCA405224219PEPDc.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
19g.33401768_33401774dupCA2332706102PEPDc.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
19g.33401769C>ACA405224220PEPDc.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
19g.33401769C>GCA405224221PEPDc.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
19g.33401769C>TCA405224224PEPDc.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
19g.33401770A>CCA405224228PEPDc.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
19g.33401770A>GCA506687884PEPDc.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
19g.33401770A>TCA405224230PEPDc.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
19g.33401771T>ACA405224233PEPDc.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
19g.33401771T>CCA9364078PEPDc.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
19g.33401771T>GCA405224242PEPDc.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
19g.33401771T=CA2332706103PEPDc.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=
19g.33401772A>CCA405224248PEPDc.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
19g.33401772A>GCA405224251PEPDc.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
19g.33401772A>TCA405224246PEPDc.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
19g.33401773G>ACA506687893PEPDc.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
19g.33401773G>CCA506687895PEPDc.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
19g.33401773G=CA2332706104PEPDc.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=
19g.33401773G>TCA506687897PEPDc.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
19g.33401774A=CA2332706105PEPDc.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=
19g.33401774A>CCA405224257PEPDc.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
19g.33401774A>GCA405224253PEPDc.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
19g.33401774A>TCA405224256PEPDc.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
19g.33401775C>ACA405224261PEPDc.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
19g.33401775C=CA2332706106PEPDc.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=
19g.33401775C>GCA405224263PEPDc.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
19g.33401775C>TCA9364080PEPDc.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
19g.33401776_33401778dupCA9364079PEPDc.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
19g.33401776G>ACA9364081PEPDc.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
19g.33401776G>CCA506687909PEPDc.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
19g.33401776G=CA2332706107PEPDc.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=
19g.33401776G>TCA506687911PEPDc.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
19g.33401777G>ACA405224270PEPDc.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
19g.33401777G>CCA405224272PEPDc.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
19g.33401777G>TCA405224274PEPDc.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
19g.33401778C>ACA405224276PEPDc.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
19g.33401778C=CA2332706108PEPDc.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=
19g.33401778C>GCA405224278PEPDc.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
19g.33401778C>TCA405224280PEPDc.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
19g.33401779C>ACA405224283PEPDc.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
19g.33401779C>GCA405224287PEPDc.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
19g.33401779C>TCA506687921PEPDc.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
19g.33401780T>ACA405224290PEPDc.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
19g.33401780T>CCA405224293PEPDc.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
19g.33401780T>GCA405224296PEPDc.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
19g.33401781T>ACA405224300PEPDc.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
19g.33401781T>CCA405224302PEPDc.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
19g.33401781T>GCA405224305PEPDc.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
19g.33401782C>ACA405224307PEPDc.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
19g.33401782C>GCA405224310PEPDc.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
19g.33401782C>TCA506687932PEPDc.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
19g.33401783T>ACA405224314PEPDc.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
19g.33401783T>CCA405224317PEPDc.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
19g.33401783T>GCA405224319PEPDc.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
19g.33401784G>ACA405224327PEPDc.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
19g.33401784G>CCA405224330PEPDc.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
19g.33401784G=CA2332706109PEPDc.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=
19g.33401784G>TCA405224324PEPDc.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
19g.33401785G>ACA506687940PEPDc.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
19g.33401785G>CCA405224333PEPDc.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
19g.33401785G=CA2332706110PEPDc.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=
19g.33401785G>TCA405224335PEPDc.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
19g.33401786T>ACA405224338PEPDc.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
19g.33401786T>CCA405224342PEPDc.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
19g.33401786T>GCA405224346PEPDc.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
19g.33401787C>ACA9364082PEPDc.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
19g.33401787C=CA2332706111PEPDc.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=
19g.33401787C>GCA405224350PEPDc.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
19g.33401787C>TCA405224348PEPDc.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
19g.33401788T>ACA506687951PEPDc.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
19g.33401788T>CCA506687953PEPDc.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
19g.33401788T>GCA506687955PEPDc.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
19g.33401789G>ACA405224355PEPDc.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
19g.33401789G>CCA405224358PEPDc.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
19g.33401789G=CA2332706112PEPDc.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=
19g.33401789G>TCA405224362PEPDc.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
19g.33401790C>ACA405224365PEPDc.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
19g.33401790C>GCA405224367PEPDc.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
19g.33401790C>TCA405224370PEPDc.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
19g.33401791A>CCA506687963PEPDc.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
19g.33401791A>GCA506687965PEPDc.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
19g.33401791A>TCA506687967PEPDc.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
19g.33401792G>ACA405224374PEPDc.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
19g.33401792G>CCA405224379PEPDc.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
19g.33401792G>TCA405224377PEPDc.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
19g.33401793T>ACA405224382PEPDc.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
19g.33401793T>CCA405224384PEPDc.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
19g.33401793T>GCA405224387PEPDc.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
19g.33401793T=CA2332706113PEPDc.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=
19g.33401794G>ACA506687976PEPDc.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
19g.33401794G>CCA405224389PEPDc.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
19g.33401794G=CA2332706114PEPDc.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=
19g.33401794G>TCA405224392PEPDc.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
19g.33401795A>CCA405224399PEPDc.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
19g.33401795A>GCA405224401PEPDc.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
19g.33401795A>TCA405224403PEPDc.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
19g.33401796A=CA2332706115PEPDc.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=
19g.33401796A>CCA9364083PEPDc.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
19g.33401796A>GCA405224414PEPDc.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
19g.33401796A>TCA405224418PEPDc.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
19g.33401797C>ACA405224423PEPDc.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
19g.33401797C>GCA405224425PEPDc.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
19g.33401797C>TCA506687988PEPDc.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
19g.33401798T>ACA405224429PEPDc.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
19g.33401798T>CCA405224431PEPDc.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
19g.33401798T>GCA405224427PEPDc.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
19g.33401799T>ACA405224438PEPDc.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
19g.33401799T>CCA405224433PEPDc.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
19g.33401799T>GCA405224436PEPDc.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
19g.33401799T=CA2332706116PEPDc.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=
19g.33401799_33401800insTCTCCA9364084PEPDc.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
19g.33401800G>ACA506687999PEPDc.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
19g.33401800G>CCA506688001PEPDc.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
19g.33401800G>TCA506688002PEPDc.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
19g.33401801C>ACA405224443PEPDc.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
19g.33401801C=CA2332706117PEPDc.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=
19g.33401801C>GCA405224444PEPDc.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
19g.33401801C>TCA405224445PEPDc.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
19g.33401802C>ACA405224448PEPDc.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
19g.33401802C=CA2332706118PEPDc.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=
19g.33401802C>GCA405224451PEPDc.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
19g.33401802C>TCA9364085PEPDc.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
19g.33401803G>ACA9364086PEPDc.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
19g.33401803G>CCA405224458PEPDc.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
19g.33401803G=CA2332706119PEPDc.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=
19g.33401803G>TCA405224464PEPDc.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
19g.33401804T>ACA405224473PEPDc.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
19g.33401804T>CCA405224470PEPDc.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
19g.33401804T>GCA405224468PEPDc.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
19g.33401804T=CA2332706120PEPDc.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=
19g.33401805T>ACA405224484PEPDc.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
19g.33401805T>CCA405224487PEPDc.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
19g.33401805T>GCA405224490PEPDc.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
19g.33401806G>ACA506688020PEPDc.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
19g.33401806G>CCA506688021PEPDc.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
19g.33401806G>TCA506688023PEPDc.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
19g.33401807G>ACA405224493PEPDc.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
19g.33401807G>CCA405224495PEPDc.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
19g.33401807G=CA2332706121PEPDc.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=
19g.33401807G>TCA405224496PEPDc.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
19g.33401808C>ACA405224499PEPDc.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
19g.33401808C=CA2332706122PEPDc.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=
19g.33401808C>GCA405224502PEPDc.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
19g.33401808C>TCA9364087PEPDc.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
19g.33401809G>ACA9364088PEPDc.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
19g.33401809G>CCA506688032PEPDc.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=)
19g.33401809G=CA2332706123PEPDc.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=)
19g.33401809G>TCA506688030PEPDc.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=)
19g.33401810G>ACA405224508PEPDc.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)
19g.33401810G>CCA405224509PEPDc.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)
19g.33401810G>TCA405224512PEPDc.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)
19g.33401811G>ACA405224522PEPDc.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)
19g.33401811G>CCA405224520PEPDc.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)
19g.33401811G>TCA405224517PEPDc.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)
19g.33401812A>CCA405224529PEPDc.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)
19g.33401812A>GCA506688042PEPDc.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=)
19g.33401812A>TCA405224527PEPDc.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)
19g.33401814delCA2695228562PEPDc.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=)
19g.33401813A>CCA405224532PEPDc.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)
19g.33401813A>GCA405224535PEPDc.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)
19g.33401813A>TCA405224536PEPDc.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)
19g.33401814A>CCA405224538PEPDc.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)
19g.33401814A>GCA405224540PEPDc.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)
19g.33401814A>TCA405224543PEPDc.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)
19g.33401816_33401818delCA2642422064PEPDc.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
19g.33401815G>ACA307584778PEPDc.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
19g.33401815G>CCA506688053PEPDc.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
19g.33401815G=CA2332706124PEPDc.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=)
19g.33401815G>TCA506688051PEPDc.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=)
19g.33401816G>ACA405224545PEPDc.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
19g.33401816G>CCA405224548PEPDc.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)
19g.33401816G>TCA405224552PEPDc.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)
19g.33401817A=CA2332706125PEPDc.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=)
19g.33401817A>CCA405224555PEPDc.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)
19g.33401817A>GCA405224558PEPDc.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
19g.33401817A>TCA405224560PEPDc.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)
19g.33401818G>ACA9364089PEPDc.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
19g.33401818G>CCA405224563PEPDc.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)
19g.33401818G=CA2332706126PEPDc.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=)
19g.33401818G>TCA405224564PEPDc.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)
19g.33401819C>ACA405224569PEPDc.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)
19g.33401819C>GCA405224570PEPDc.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)
19g.33401819C>TCA405224576PEPDc.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)
19g.33401820A=CA2332706127PEPDc.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=)
19g.33401820A>CCA405224580PEPDc.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)
19g.33401820A>GCA9364090PEPDc.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
19g.33401820A>TCA405224583PEPDc.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)
19g.33401821G>ACA506688073PEPDc.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
19g.33401821G>CCA506688075PEPDc.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
19g.33401821G=CA2332706128PEPDc.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=)
19g.33401821G>TCA506688076PEPDc.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=)
19g.33401822G>ACA405224586PEPDc.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)
19g.33401822G>CCA405224589PEPDc.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)
19g.33401822G>TCA405224596PEPDc.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)
19g.33401823T>ACA405224599PEPDc.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)
19g.33401823T>CCA405224602PEPDc.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
19g.33401823T>GCA405224608PEPDc.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)
19g.33401824G>ACA506688084PEPDc.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
19g.33401824G>CCA405224610PEPDc.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
19g.33401824G>TCA506688087PEPDc.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=)
19g.33401825A=CA2332706129PEPDc.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=)
19g.33401825A>CCA405224615PEPDc.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)
19g.33401825A>GCA9364091PEPDc.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
19g.33401825A>TCA405224613PEPDc.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)
19g.33401826T>ACA405224620PEPDc.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)
19g.33401826T>CCA405224630PEPDc.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
19g.33401826T>GCA405224629PEPDc.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)
19g.33401827G>ACA9364092PEPDc.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
19g.33401827G>CCA405224633PEPDc.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)
19g.33401827G=CA2332706130PEPDc.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=)
19g.33401827G>TCA405224635PEPDc.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)
19g.33401828T>ACA405224637PEPDc.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)
19g.33401828T>CCA405224639PEPDc.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)
19g.33401828T>GCA405224640PEPDc.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
19g.33401829C>ACA405224642PEPDc.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)
19g.33401829C=CA2332706131PEPDc.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=)
19g.33401829C>GCA405224644PEPDc.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)
19g.33401829C>TCA9364093PEPDc.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
19g.33401830G>ACA9364094PEPDc.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
19g.33401830G>CCA506688109PEPDc.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=)
19g.33401830G=CA2332706132PEPDc.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=)
19g.33401830G>TCA506688107PEPDc.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
19g.33401831G>ACA405224651PEPDc.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)
19g.33401831G>CCA405224650PEPDc.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)
19g.33401831G>TCA405224648PEPDc.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)
19g.33401836_33401840delCA645619050PEPDc.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
19g.33401832A>CCA405224654PEPDc.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)
19g.33401832A>GCA405224656PEPDc.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)
19g.33401832A>TCA405224657PEPDc.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)
19g.33401833A=CA2332706133PEPDc.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=)
19g.33401833A>CCA506688123PEPDc.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
19g.33401833A>GCA506688121PEPDc.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=)
19g.33401833A>TCA506688119PEPDc.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=)
19g.33401834G>ACA405224659PEPDc.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)
19g.33401834G>CCA405224663PEPDc.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)
19g.33401834G>TCA405224665PEPDc.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)
19g.33401835C>ACA405224666PEPDc.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)
19g.33401835C=CA2332706134PEPDc.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=)
19g.33401835C>GCA405224668PEPDc.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)
19g.33401835C>TCA9364095PEPDc.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
19g.33401836G>ACA9364096PEPDc.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
19g.33401836G>CCA405224671PEPDc.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)
19g.33401836G=CA2332706135PEPDc.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=)
19g.33401836G>TCA405224674PEPDc.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)
19g.33401837A>CCA405224677PEPDc.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)
19g.33401837A>GCA405224680PEPDc.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)
19g.33401837A>TCA405224676PEPDc.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)
19g.33401838A>CCA405224682PEPDc.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
19g.33401838A>GCA405224684PEPDc.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)
19g.33401838A>TCA405224687PEPDc.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)
19g.33401839G>ACA506688143PEPDc.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
19g.33401839G>CCA405224694PEPDc.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
19g.33401839G>TCA405224696PEPDc.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)
19g.33401840C>ACA405224698PEPDc.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)
19g.33401840C=CA2332706136PEPDc.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=)
19g.33401840C>GCA405224700PEPDc.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
19g.33401840C>TCA405224702PEPDc.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)
19g.33401841A=CA2332706137PEPDc.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=)
19g.33401841A>CCA405224703PEPDc.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)
19g.33401841A>GCA405224704PEPDc.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)
19g.33401841A>TCA405224706PEPDc.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
19g.33401842G>ACA506688153PEPDc.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=)
19g.33401842G>CCA405224708PEPDc.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)
19g.33401842G>TCA405224710PEPDc.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)
19g.33401843T>ACA405224716PEPDc.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)
19g.33401843T>CCA405224714PEPDc.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)
19g.33401843T>GCA405224712PEPDc.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
19g.33401843T=CA2332706138PEPDc.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=)
19g.33401844A>CCA405224718PEPDc.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)
19g.33401844A>GCA405224722PEPDc.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)
19g.33401844A>TCA405224724PEPDc.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)
19g.33401845A=CA2332706139PEPDc.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=)
19g.33401845A>CCA405224726PEPDc.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
19g.33401845A>GCA9364097PEPDc.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
19g.33401845A>TCA405224729PEPDc.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)
19g.33401846_33401847delCA2642422065PEPDc.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
19g.33401846T>ACA405224731PEPDc.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)
19g.33401846T>CCA9364098PEPDc.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
19g.33401846T>GCA405224732PEPDc.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)
19g.33401846T=CA2332706140PEPDc.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=)
19g.33401847A=CA2332706141PEPDc.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=)
19g.33401847A>CCA405224733PEPDc.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
19g.33401847A>GCA405224734PEPDc.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)
19g.33401847A>TCA9364099PEPDc.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
19g.33401849_33401852delCA2573334480PEPDc.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
19g.33401848C>ACA405224735PEPDc.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)
19g.33401848C>GCA405224736PEPDc.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)
19g.33401848C>TCA506688181PEPDc.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
19g.33401849T>ACA405224739PEPDc.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)
19g.33401849T>CCA405224741PEPDc.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)
19g.33401849T>GCA405224737PEPDc.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
19g.33401850C>ACA405224743PEPDc.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
19g.33401850C=CA2332706142PEPDc.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=)
19g.33401850C>GCA405224747PEPDc.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
19g.33401850C>TCA405224745PEPDc.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
19g.33401851A>CCA506688187PEPDc.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
19g.33401851A>GCA506688189PEPDc.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=)
19g.33401851A>TCA506688185PEPDc.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=)
19g.33401852C>ACA405224750PEPDc.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)
19g.33401852C>GCA405224754PEPDc.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)
19g.33401852C>TCA405224752PEPDc.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)
19g.33401853C>ACA405224757PEPDc.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)
19g.33401853C=CA2332706143PEPDc.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=)
19g.33401853C>GCA405224759PEPDc.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)
19g.33401853C>TCA9364100PEPDc.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
19g.33401854G>ACA9364101PEPDc.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
19g.33401854G>CCA506688197PEPDc.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=)
19g.33401854G=CA2332706144PEPDc.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=)
19g.33401854G>TCA506688199PEPDc.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=)
19g.33401855C>ACA405224764PEPDc.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)
19g.33401855C=CA2332706145PEPDc.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=)
19g.33401855C>GCA405224762PEPDc.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)
19g.33401855C>TCA214914PEPDc.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
19g.33401856C>ACA405224766PEPDc.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)
19g.33401856C>GCA405224768PEPDc.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)
19g.33401856C>TCA405224770PEPDc.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)
19g.33401857C>ACA405224771PEPDc.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)
19g.33401857C>GCA405224773PEPDc.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)
19g.33401857C>TCA405224775PEPDc.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)
19g.33401858A=CA2332706146PEPDc.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=)
19g.33401858A>CCA405224777PEPDc.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
19g.33401858A>GCA405224778PEPDc.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)
 dbSNP gnomAD v2 gnomAD v4
19g.33401858A>TCA405224779PEPDc.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)

Number of alleles fetched