| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.33401738_33401778dup | CA2735804665 | PEPD | c.911_951dup (p.Gly318ProfsTer17) c.866_906dup (p.Gly303ProfsTer17) c.962_1002dup (p.Gly335ProfsTer17) n.974_1014dup c.590_630dup (p.Gly211ProfsTer17) c.953_993dup (p.Gly332ProfsTer17) n.794_834dup c.1161_1201dup c.648_688dup (n.648_688dup) c.720_760dup n.373_413dup n.398_438dup c.900_940dup n.586_626dup c.907_947dup c.788_828dup (p.Gly277ProfsTer17) c.719_759dup (p.Gly254ProfsTer17) c.402_442dup | dbSNP |
| 19 | g.33401741_33401755delinsACGGCACGGGAGCTC | CA2332706090 | PEPD | c.933_947delinsGAGCTCCCGTGCCGT (p.Arg311=) c.888_902delinsGAGCTCCCGTGCCGT (p.Arg296=) c.984_998delinsGAGCTCCCGTGCCGT (p.Arg328=) n.996_1010delinsGAGCTCCCGTGCCGT c.612_626delinsGAGCTCCCGTGCCGT (p.Arg204=) c.975_989delinsGAGCTCCCGTGCCGT (p.Arg325=) n.816_830delinsGAGCTCCCGTGCCGT c.1183_1197delinsGAGCTCCCGTGCCGT c.670_684delinsGAGCTCCCGTGCCGT (n.670_684delinsGAGCTCCCGTGCCGT) c.742_756delinsGAGCTCCCGTGCCGT n.395_409delinsGAGCTCCCGTGCCGT n.420_434delinsGAGCTCCCGTGCCGT c.922_936delinsGAGCTCCCGTGCCGT n.608_622delinsGAGCTCCCGTGCCGT c.929_943delinsGAGCTCCCGTGCCGT c.810_824delinsGAGCTCCCGTGCCGT (p.Arg270=) c.741_755delinsGAGCTCCCGTGCCGT (p.Arg247=) c.424_438delinsGAGCTCCCGTGCCGT | |
| 19 | g.33401744_33401757del | CA9364071 | PEPD | c.933_946del (p.Ser312HisfsTer?) c.933_946del (p.Ser312HisfsTer12) c.888_901del (p.Ser297HisfsTer12) c.984_997del (p.Ser329HisfsTer12) n.996_1009del c.612_625del (p.Ser205HisfsTer12) c.975_988del (p.Ser326HisfsTer12) n.816_829del c.1183_1196del c.670_683del (n.670_683del) c.742_755del n.395_408del n.420_433del c.922_935del n.608_621del c.929_942del c.810_823del (p.Ser271HisfsTer12) c.741_754del (p.Ser248HisfsTer12) c.424_437del | dbSNP ExAC gnomAD v2 |
| 19 | g.33401755C>A | CA506687820 | PEPD | c.933G>T (p.Arg311=) c.888G>T (p.Arg296=) c.984G>T (p.Arg328=) n.996G>T c.612G>T (p.Arg204=) c.975G>T (p.Arg325=) n.816G>T c.1183G>T c.670G>T (n.670G>T) c.742G>T n.395G>T n.420G>T c.922G>T n.608G>T c.929G>T c.810G>T (p.Arg270=) c.741G>T (p.Arg247=) c.424G>T | |
| 19 | g.33401755C>G | CA506687822 | PEPD | c.933G>C (p.Arg311=) c.888G>C (p.Arg296=) c.984G>C (p.Arg328=) n.996G>C c.612G>C (p.Arg204=) c.975G>C (p.Arg325=) n.816G>C c.1183G>C c.670G>C (n.670G>C) c.742G>C n.395G>C n.420G>C c.922G>C n.608G>C c.929G>C c.810G>C (p.Arg270=) c.741G>C (p.Arg247=) c.424G>C | |
| 19 | g.33401755C>T | CA506687824 | PEPD | c.933G>A (p.Arg311=) c.888G>A (p.Arg296=) c.984G>A (p.Arg328=) n.996G>A c.612G>A (p.Arg204=) c.975G>A (p.Arg325=) n.816G>A c.1183G>A c.670G>A (n.670G>A) c.742G>A n.395G>A n.420G>A c.922G>A n.608G>A c.929G>A c.810G>A (p.Arg270=) c.741G>A (p.Arg247=) c.424G>A | COSMIC |
| 19 | g.33401756C>A | CA307584724 | PEPD | c.932G>T (p.Arg311Leu) c.887G>T (p.Arg296Leu) c.983G>T (p.Arg328Leu) n.995G>T c.611G>T (p.Arg204Leu) c.974G>T (p.Arg325Leu) n.815G>T c.1182G>T c.669G>T (n.669G>T) c.741G>T n.394G>T n.419G>T c.921G>T n.607G>T c.928G>T c.809G>T (p.Arg270Leu) c.740G>T (p.Arg247Leu) c.423G>T | |
| 19 | g.33401756C= | CA2332706097 | PEPD | c.932G= (p.Arg311=) c.887G= (p.Arg296=) c.983G= (p.Arg328=) n.995G= c.611G= (p.Arg204=) c.974G= (p.Arg325=) n.815G= c.1182G= c.669G= (n.669G=) c.741G= n.394G= n.419G= c.921G= n.607G= c.928G= c.809G= (p.Arg270=) c.740G= (p.Arg247=) c.423G= | |
| 19 | g.33401756C>G | CA405224147 | PEPD | c.932G>C (p.Arg311Pro) c.887G>C (p.Arg296Pro) c.983G>C (p.Arg328Pro) n.995G>C c.611G>C (p.Arg204Pro) c.974G>C (p.Arg325Pro) n.815G>C c.1182G>C c.669G>C (n.669G>C) c.741G>C n.394G>C n.419G>C c.921G>C n.607G>C c.928G>C c.809G>C (p.Arg270Pro) c.740G>C (p.Arg247Pro) c.423G>C | |
| 19 | g.33401756C>T | CA9364076 | PEPD | c.932G>A (p.Arg311Gln) c.887G>A (p.Arg296Gln) c.983G>A (p.Arg328Gln) n.995G>A c.611G>A (p.Arg204Gln) c.974G>A (p.Arg325Gln) n.815G>A c.1182G>A c.669G>A (n.669G>A) c.741G>A n.394G>A n.419G>A c.921G>A n.607G>A c.928G>A c.809G>A (p.Arg270Gln) c.740G>A (p.Arg247Gln) c.423G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.33401757G>A | CA9364077 | PEPD | c.931C>T (p.Arg311Trp) c.886C>T (p.Arg296Trp) c.982C>T (p.Arg328Trp) n.994C>T c.610C>T (p.Arg204Trp) c.973C>T (p.Arg325Trp) n.814C>T c.1181C>T c.668C>T (n.668C>T) c.740C>T n.393C>T n.418C>T c.920C>T n.606C>T c.927C>T c.808C>T (p.Arg270Trp) c.739C>T (p.Arg247Trp) c.422C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.33401757G>C | CA405224153 | PEPD | c.931C>G (p.Arg311Gly) c.886C>G (p.Arg296Gly) c.982C>G (p.Arg328Gly) n.994C>G c.610C>G (p.Arg204Gly) c.973C>G (p.Arg325Gly) n.814C>G c.1181C>G c.668C>G (n.668C>G) c.740C>G n.393C>G n.418C>G c.920C>G n.606C>G c.927C>G c.808C>G (p.Arg270Gly) c.739C>G (p.Arg247Gly) c.422C>G | |
| 19 | g.33401757G= | CA2332706098 | PEPD | c.931C= (p.Arg311=) c.886C= (p.Arg296=) c.982C= (p.Arg328=) n.994C= c.610C= (p.Arg204=) c.973C= (p.Arg325=) n.814C= c.1181C= c.668C= (n.668C=) c.740C= n.393C= n.418C= c.920C= n.606C= c.927C= c.808C= (p.Arg270=) c.739C= (p.Arg247=) c.422C= | |
| 19 | g.33401757G>T | CA506687832 | PEPD | c.931C>A (p.Arg311=) c.886C>A (p.Arg296=) c.982C>A (p.Arg328=) n.994C>A c.610C>A (p.Arg204=) c.973C>A (p.Arg325=) n.814C>A c.1181C>A c.668C>A (n.668C>A) c.740C>A n.393C>A n.418C>A c.920C>A n.606C>A c.927C>A c.808C>A (p.Arg270=) c.739C>A (p.Arg247=) c.422C>A | |
| 19 | g.33401758C>A | CA506687834 | PEPD | c.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 | |
| 19 | g.33401758C>G | CA506687836 | PEPD | c.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 | |
| 19 | g.33401758C>T | CA506687837 | PEPD | c.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 | |
| 19 | g.33401759A= | CA2332706099 | PEPD | c.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= | |
| 19 | g.33401759A>C | CA405224160 | PEPD | c.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 | |
| 19 | g.33401759A>G | CA405224162 | PEPD | c.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 |
| 19 | g.33401759A>T | CA405224157 | PEPD | c.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 | |
| 19 | g.33401760G>A | CA506687842 | PEPD | c.928C>T (p.Leu310=) c.883C>T (p.Leu295=) c.979C>T (p.Leu327=) n.991C>T c.607C>T (p.Leu203=) c.970C>T (p.Leu324=) n.811C>T c.1178C>T c.665C>T (n.665C>T) c.737C>T n.390C>T n.415C>T c.917C>T n.603C>T c.924C>T c.805C>T (p.Leu269=) c.736C>T (p.Leu246=) c.419C>T | ClinVar |
| 19 | g.33401760G>C | CA405224166 | PEPD | c.928C>G (p.Leu310Val) c.883C>G (p.Leu295Val) c.979C>G (p.Leu327Val) n.991C>G c.607C>G (p.Leu203Val) c.970C>G (p.Leu324Val) n.811C>G c.1178C>G c.665C>G (n.665C>G) c.737C>G n.390C>G n.415C>G c.917C>G n.603C>G c.924C>G c.805C>G (p.Leu269Val) c.736C>G (p.Leu246Val) c.419C>G | |
| 19 | g.33401760G>T | CA405224167 | PEPD | c.928C>A (p.Leu310Met) c.883C>A (p.Leu295Met) c.979C>A (p.Leu327Met) n.991C>A c.607C>A (p.Leu203Met) c.970C>A (p.Leu324Met) n.811C>A c.1178C>A c.665C>A (n.665C>A) c.737C>A n.390C>A n.415C>A c.917C>A n.603C>A c.924C>A c.805C>A (p.Leu269Met) c.736C>A (p.Leu246Met) c.419C>A | |
| 19 | g.33401761C>A | CA506687849 | PEPD | c.927G>T (p.Val309=) c.882G>T (p.Val294=) c.978G>T (p.Val326=) n.990G>T c.606G>T (p.Val202=) c.969G>T (p.Val323=) n.810G>T c.1177G>T c.664G>T (n.664G>T) c.736G>T n.389G>T n.414G>T c.916G>T n.602G>T c.923G>T c.804G>T (p.Val268=) c.735G>T (p.Val245=) c.418G>T | |
| 19 | g.33401761C>G | CA506687848 | PEPD | c.927G>C (p.Val309=) c.882G>C (p.Val294=) c.978G>C (p.Val326=) n.990G>C c.606G>C (p.Val202=) c.969G>C (p.Val323=) n.810G>C c.1177G>C c.664G>C (n.664G>C) c.736G>C n.389G>C n.414G>C c.916G>C n.602G>C c.923G>C c.804G>C (p.Val268=) c.735G>C (p.Val245=) c.418G>C | |
| 19 | g.33401761C>T | CA506687846 | PEPD | c.927G>A (p.Val309=) c.882G>A (p.Val294=) c.978G>A (p.Val326=) n.990G>A c.606G>A (p.Val202=) c.969G>A (p.Val323=) n.810G>A c.1177G>A c.664G>A (n.664G>A) c.736G>A n.389G>A n.414G>A c.916G>A n.602G>A c.923G>A c.804G>A (p.Val268=) c.735G>A (p.Val245=) c.418G>A | ClinVar |
| 19 | g.33401762A>C | CA405224169 | PEPD | c.926T>G (p.Val309Gly) c.881T>G (p.Val294Gly) c.977T>G (p.Val326Gly) n.989T>G c.605T>G (p.Val202Gly) c.968T>G (p.Val323Gly) n.809T>G c.1176T>G c.663T>G (n.663T>G) c.735T>G n.388T>G n.413T>G c.915T>G n.601T>G c.922T>G c.803T>G (p.Val268Gly) c.734T>G (p.Val245Gly) c.417T>G | |
| 19 | g.33401762A>G | CA405224172 | PEPD | c.926T>C (p.Val309Ala) c.881T>C (p.Val294Ala) c.977T>C (p.Val326Ala) n.989T>C c.605T>C (p.Val202Ala) c.968T>C (p.Val323Ala) n.809T>C c.1176T>C c.663T>C (n.663T>C) c.735T>C n.388T>C n.413T>C c.915T>C n.601T>C c.922T>C c.803T>C (p.Val268Ala) c.734T>C (p.Val245Ala) c.417T>C | |
| 19 | g.33401762A>T | CA405224175 | PEPD | c.926T>A (p.Val309Glu) c.881T>A (p.Val294Glu) c.977T>A (p.Val326Glu) n.989T>A c.605T>A (p.Val202Glu) c.968T>A (p.Val323Glu) n.809T>A c.1176T>A c.663T>A (n.663T>A) c.735T>A n.388T>A n.413T>A c.915T>A n.601T>A c.922T>A c.803T>A (p.Val268Glu) c.734T>A (p.Val245Glu) c.417T>A | |
| 19 | g.33401763C>A | CA405224179 | PEPD | c.925G>T (p.Val309Leu) c.880G>T (p.Val294Leu) c.976G>T (p.Val326Leu) n.988G>T c.604G>T (p.Val202Leu) c.967G>T (p.Val323Leu) n.808G>T c.1175G>T c.662G>T (n.662G>T) c.734G>T n.387G>T n.412G>T c.914G>T n.600G>T c.921G>T c.802G>T (p.Val268Leu) c.733G>T (p.Val245Leu) c.416G>T | |
| 19 | g.33401763C>G | CA405224185 | PEPD | c.925G>C (p.Val309Leu) c.880G>C (p.Val294Leu) c.976G>C (p.Val326Leu) n.988G>C c.604G>C (p.Val202Leu) c.967G>C (p.Val323Leu) n.808G>C c.1175G>C c.662G>C (n.662G>C) c.734G>C n.387G>C n.412G>C c.914G>C n.600G>C c.921G>C c.802G>C (p.Val268Leu) c.733G>C (p.Val245Leu) c.416G>C | |
| 19 | g.33401763C>T | CA405224187 | PEPD | c.925G>A (p.Val309Met) c.880G>A (p.Val294Met) c.976G>A (p.Val326Met) n.988G>A c.604G>A (p.Val202Met) c.967G>A (p.Val323Met) n.808G>A c.1175G>A c.662G>A (n.662G>A) c.734G>A n.387G>A n.412G>A c.914G>A n.600G>A c.921G>A c.802G>A (p.Val268Met) c.733G>A (p.Val245Met) c.416G>A | |
| 19 | g.33401764T>A | CA506687858 | PEPD | c.924A>T (p.Ala308=) c.879A>T (p.Ala293=) c.975A>T (p.Ala325=) n.987A>T c.603A>T (p.Ala201=) c.966A>T (p.Ala322=) n.807A>T c.1174A>T c.661A>T (n.661A>T) c.733A>T n.386A>T n.411A>T c.913A>T n.599A>T c.920A>T c.801A>T (p.Ala267=) c.732A>T (p.Ala244=) c.415A>T | dbSNP gnomAD v4 |
| 19 | g.33401764T>C | CA506687860 | PEPD | c.924A>G (p.Ala308=) c.879A>G (p.Ala293=) c.975A>G (p.Ala325=) n.987A>G c.603A>G (p.Ala201=) c.966A>G (p.Ala322=) n.807A>G c.1174A>G c.661A>G (n.661A>G) c.733A>G n.386A>G n.411A>G c.913A>G n.599A>G c.920A>G c.801A>G (p.Ala267=) c.732A>G (p.Ala244=) c.415A>G | |
| 19 | g.33401764T>G | CA506687861 | PEPD | c.924A>C (p.Ala308=) c.879A>C (p.Ala293=) c.975A>C (p.Ala325=) n.987A>C c.603A>C (p.Ala201=) c.966A>C (p.Ala322=) n.807A>C c.1174A>C c.661A>C (n.661A>C) c.733A>C n.386A>C n.411A>C c.913A>C n.599A>C c.920A>C c.801A>C (p.Ala267=) c.732A>C (p.Ala244=) c.415A>C | |
| 19 | g.33401764T= | CA2332706100 | PEPD | c.924A= (p.Ala308=) c.879A= (p.Ala293=) c.975A= (p.Ala325=) n.987A= c.603A= (p.Ala201=) c.966A= (p.Ala322=) n.807A= c.1174A= c.661A= (n.661A=) c.733A= n.386A= n.411A= c.913A= n.599A= c.920A= c.801A= (p.Ala267=) c.732A= (p.Ala244=) c.415A= | |
| 19 | g.33401765G>A | CA405224188 | PEPD | c.923C>T (p.Ala308Val) c.878C>T (p.Ala293Val) c.974C>T (p.Ala325Val) n.986C>T c.602C>T (p.Ala201Val) c.965C>T (p.Ala322Val) n.806C>T c.1173C>T c.660C>T (n.660C>T) c.732C>T n.385C>T n.410C>T c.912C>T n.598C>T c.919C>T c.800C>T (p.Ala267Val) c.731C>T (p.Ala244Val) c.414C>T | |
| 19 | g.33401765G>C | CA405224189 | PEPD | c.923C>G (p.Ala308Gly) c.878C>G (p.Ala293Gly) c.974C>G (p.Ala325Gly) n.986C>G c.602C>G (p.Ala201Gly) c.965C>G (p.Ala322Gly) n.806C>G c.1173C>G c.660C>G (n.660C>G) c.732C>G n.385C>G n.410C>G c.912C>G n.598C>G c.919C>G c.800C>G (p.Ala267Gly) c.731C>G (p.Ala244Gly) c.414C>G | |
| 19 | g.33401765G>T | CA405224196 | PEPD | c.923C>A (p.Ala308Glu) c.878C>A (p.Ala293Glu) c.974C>A (p.Ala325Glu) n.986C>A c.602C>A (p.Ala201Glu) c.965C>A (p.Ala322Glu) n.806C>A c.1173C>A c.660C>A (n.660C>A) c.732C>A n.385C>A n.410C>A c.912C>A n.598C>A c.919C>A c.800C>A (p.Ala267Glu) c.731C>A (p.Ala244Glu) c.414C>A | gnomAD v4 |
| 19 | g.33401766C>A | CA405224204 | PEPD | c.922G>T (p.Ala308Ser) c.877G>T (p.Ala293Ser) c.973G>T (p.Ala325Ser) n.985G>T c.601G>T (p.Ala201Ser) c.964G>T (p.Ala322Ser) n.805G>T c.1172G>T c.659G>T (n.659G>T) c.731G>T n.384G>T n.409G>T c.911G>T n.597G>T c.918G>T c.799G>T (p.Ala267Ser) c.730G>T (p.Ala244Ser) c.413G>T | |
| 19 | g.33401766C>G | CA405224202 | PEPD | c.922G>C (p.Ala308Pro) c.877G>C (p.Ala293Pro) c.973G>C (p.Ala325Pro) n.985G>C c.601G>C (p.Ala201Pro) c.964G>C (p.Ala322Pro) n.805G>C c.1172G>C c.659G>C (n.659G>C) c.731G>C n.384G>C n.409G>C c.911G>C n.597G>C c.918G>C c.799G>C (p.Ala267Pro) c.730G>C (p.Ala244Pro) c.413G>C | |
| 19 | g.33401766C>T | CA405224199 | PEPD | c.922G>A (p.Ala308Thr) c.877G>A (p.Ala293Thr) c.973G>A (p.Ala325Thr) n.985G>A c.601G>A (p.Ala201Thr) c.964G>A (p.Ala322Thr) n.805G>A c.1172G>A c.659G>A (n.659G>A) c.731G>A n.384G>A n.409G>A c.911G>A n.597G>A c.918G>A c.799G>A (p.Ala267Thr) c.730G>A (p.Ala244Thr) c.413G>A | gnomAD v4 |
| 19 | g.33401767C>A | CA405224206 | PEPD | c.921G>T (p.Glu307Asp) c.876G>T (p.Glu292Asp) c.972G>T (p.Glu324Asp) n.984G>T c.600G>T (p.Glu200Asp) c.963G>T (p.Glu321Asp) n.804G>T c.1171G>T c.658G>T (n.658G>T) c.730G>T n.383G>T n.408G>T c.910G>T n.596G>T c.917G>T c.798G>T (p.Glu266Asp) c.729G>T (p.Glu243Asp) c.412G>T | |
| 19 | g.33401767C= | CA2332706101 | PEPD | c.921G= (p.Glu307=) c.876G= (p.Glu292=) c.972G= (p.Glu324=) n.984G= c.600G= (p.Glu200=) c.963G= (p.Glu321=) n.804G= c.1171G= c.658G= (n.658G=) c.730G= n.383G= n.408G= c.910G= n.596G= c.917G= c.798G= (p.Glu266=) c.729G= (p.Glu243=) c.412G= | |
| 19 | g.33401767C>G | CA405224209 | PEPD | c.921G>C (p.Glu307Asp) c.876G>C (p.Glu292Asp) c.972G>C (p.Glu324Asp) n.984G>C c.600G>C (p.Glu200Asp) c.963G>C (p.Glu321Asp) n.804G>C c.1171G>C c.658G>C (n.658G>C) c.730G>C n.383G>C n.408G>C c.910G>C n.596G>C c.917G>C c.798G>C (p.Glu266Asp) c.729G>C (p.Glu243Asp) c.412G>C | |
| 19 | g.33401767C>T | CA506687871 | PEPD | c.921G>A (p.Glu307=) c.876G>A (p.Glu292=) c.972G>A (p.Glu324=) n.984G>A c.600G>A (p.Glu200=) c.963G>A (p.Glu321=) n.804G>A c.1171G>A c.658G>A (n.658G>A) c.730G>A n.383G>A n.408G>A c.910G>A n.596G>A c.917G>A c.798G>A (p.Glu266=) c.729G>A (p.Glu243=) c.412G>A | |
| 19 | g.33401768T>A | CA405224213 | PEPD | c.920A>T (p.Glu307Val) c.875A>T (p.Glu292Val) c.971A>T (p.Glu324Val) n.983A>T c.599A>T (p.Glu200Val) c.962A>T (p.Glu321Val) n.803A>T c.1170A>T c.657A>T (n.657A>T) c.729A>T n.382A>T n.407A>T c.909A>T n.595A>T c.916A>T c.797A>T (p.Glu266Val) c.728A>T (p.Glu243Val) c.411A>T | |
| 19 | g.33401768T>C | CA405224216 | PEPD | c.920A>G (p.Glu307Gly) c.875A>G (p.Glu292Gly) c.971A>G (p.Glu324Gly) n.983A>G c.599A>G (p.Glu200Gly) c.962A>G (p.Glu321Gly) n.803A>G c.1170A>G c.657A>G (n.657A>G) c.729A>G n.382A>G n.407A>G c.909A>G n.595A>G c.916A>G c.797A>G (p.Glu266Gly) c.728A>G (p.Glu243Gly) c.411A>G | |
| 19 | g.33401768T>G | CA405224219 | PEPD | c.920A>C (p.Glu307Ala) c.875A>C (p.Glu292Ala) c.971A>C (p.Glu324Ala) n.983A>C c.599A>C (p.Glu200Ala) c.962A>C (p.Glu321Ala) n.803A>C c.1170A>C c.657A>C (n.657A>C) c.729A>C n.382A>C n.407A>C c.909A>C n.595A>C c.916A>C c.797A>C (p.Glu266Ala) c.728A>C (p.Glu243Ala) c.411A>C | gnomAD v4 |