| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.33401855C>A | CA405224764 | PEPD | c.833G>T (p.Gly278Val) c.788G>T (p.Gly263Val) c.884G>T (p.Gly295Val) n.896G>T c.512G>T (p.Gly171Val) c.875G>T (p.Gly292Val) n.716G>T c.1083G>T c.570G>T (n.570G>T) c.642G>T n.295G>T n.320G>T c.521G>T (p.Gly174Val) c.822G>T n.508G>T c.829G>T c.710G>T (p.Gly237Val) c.641G>T (p.Gly214Val) c.324G>T n.468G>T n.998G>T c.266G>T (p.Gly89Val) | |
| 19 | g.33401855C= | CA2332706145 | PEPD | c.833G= (p.Gly278=) c.788G= (p.Gly263=) c.884G= (p.Gly295=) n.896G= c.512G= (p.Gly171=) c.875G= (p.Gly292=) n.716G= c.1083G= c.570G= (n.570G=) c.642G= n.295G= n.320G= c.521G= (p.Gly174=) c.822G= n.508G= c.829G= c.710G= (p.Gly237=) c.641G= (p.Gly214=) c.324G= n.468G= n.998G= c.266G= (p.Gly89=) | |
| 19 | g.33401855C>G | CA405224762 | PEPD | c.833G>C (p.Gly278Ala) c.788G>C (p.Gly263Ala) c.884G>C (p.Gly295Ala) n.896G>C c.512G>C (p.Gly171Ala) c.875G>C (p.Gly292Ala) n.716G>C c.1083G>C c.570G>C (n.570G>C) c.642G>C n.295G>C n.320G>C c.521G>C (p.Gly174Ala) c.822G>C n.508G>C c.829G>C c.710G>C (p.Gly237Ala) c.641G>C (p.Gly214Ala) c.324G>C n.468G>C n.998G>C c.266G>C (p.Gly89Ala) | |
| 19 | g.33401855C>T | CA214914 | PEPD | c.833G>A (p.Gly278Asp) c.788G>A (p.Gly263Asp) c.884G>A (p.Gly295Asp) n.896G>A c.512G>A (p.Gly171Asp) c.875G>A (p.Gly292Asp) n.716G>A c.1083G>A c.570G>A (n.570G>A) c.642G>A n.295G>A n.320G>A c.521G>A (p.Gly174Asp) c.822G>A n.508G>A c.829G>A c.710G>A (p.Gly237Asp) c.641G>A (p.Gly214Asp) c.324G>A n.468G>A n.998G>A c.266G>A (p.Gly89Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.33401856C>A | CA405224766 | PEPD | c.832G>T (p.Gly278Cys) c.787G>T (p.Gly263Cys) c.883G>T (p.Gly295Cys) n.895G>T c.511G>T (p.Gly171Cys) c.874G>T (p.Gly292Cys) n.715G>T c.1082G>T c.569G>T (n.569G>T) c.641G>T n.294G>T n.319G>T c.520G>T (p.Gly174Cys) c.821G>T n.507G>T c.828G>T c.709G>T (p.Gly237Cys) c.640G>T (p.Gly214Cys) c.323G>T n.467G>T n.997G>T c.265G>T (p.Gly89Cys) | |
| 19 | g.33401856C>G | CA405224768 | PEPD | c.832G>C (p.Gly278Arg) c.787G>C (p.Gly263Arg) c.883G>C (p.Gly295Arg) n.895G>C c.511G>C (p.Gly171Arg) c.874G>C (p.Gly292Arg) n.715G>C c.1082G>C c.569G>C (n.569G>C) c.641G>C n.294G>C n.319G>C c.520G>C (p.Gly174Arg) c.821G>C n.507G>C c.828G>C c.709G>C (p.Gly237Arg) c.640G>C (p.Gly214Arg) c.323G>C n.467G>C n.997G>C c.265G>C (p.Gly89Arg) | |
| 19 | g.33401856C>T | CA405224770 | PEPD | c.832G>A (p.Gly278Ser) c.787G>A (p.Gly263Ser) c.883G>A (p.Gly295Ser) n.895G>A c.511G>A (p.Gly171Ser) c.874G>A (p.Gly292Ser) n.715G>A c.1082G>A c.569G>A (n.569G>A) c.641G>A n.294G>A n.319G>A c.520G>A (p.Gly174Ser) c.821G>A n.507G>A c.828G>A c.709G>A (p.Gly237Ser) c.640G>A (p.Gly214Ser) c.323G>A n.467G>A n.997G>A c.265G>A (p.Gly89Ser) | |
| 19 | g.33401857C>A | CA405224771 | PEPD | c.831G>T (p.Met277Ile) c.786G>T (p.Met262Ile) c.882G>T (p.Met294Ile) n.894G>T c.510G>T (p.Met170Ile) c.873G>T (p.Met291Ile) n.714G>T c.1081G>T c.568G>T (n.568G>T) c.640G>T n.293G>T n.318G>T c.519G>T (p.Met173Ile) c.820G>T n.506G>T c.827G>T c.708G>T (p.Met236Ile) c.639G>T (p.Met213Ile) c.322G>T n.466G>T n.996G>T c.264G>T (p.Met88Ile) | |
| 19 | g.33401857C>G | CA405224773 | PEPD | c.831G>C (p.Met277Ile) c.786G>C (p.Met262Ile) c.882G>C (p.Met294Ile) n.894G>C c.510G>C (p.Met170Ile) c.873G>C (p.Met291Ile) n.714G>C c.1081G>C c.568G>C (n.568G>C) c.640G>C n.293G>C n.318G>C c.519G>C (p.Met173Ile) c.820G>C n.506G>C c.827G>C c.708G>C (p.Met236Ile) c.639G>C (p.Met213Ile) c.322G>C n.466G>C n.996G>C c.264G>C (p.Met88Ile) | |
| 19 | g.33401857C>T | CA405224775 | PEPD | c.831G>A (p.Met277Ile) c.786G>A (p.Met262Ile) c.882G>A (p.Met294Ile) n.894G>A c.510G>A (p.Met170Ile) c.873G>A (p.Met291Ile) n.714G>A c.1081G>A c.568G>A (n.568G>A) c.640G>A n.293G>A n.318G>A c.519G>A (p.Met173Ile) c.820G>A n.506G>A c.827G>A c.708G>A (p.Met236Ile) c.639G>A (p.Met213Ile) c.322G>A n.466G>A n.996G>A c.264G>A (p.Met88Ile) | |
| 19 | g.33401858A= | CA2332706146 | PEPD | c.830T= (p.Met277=) c.785T= (p.Met262=) c.881T= (p.Met294=) n.893T= c.509T= (p.Met170=) c.872T= (p.Met291=) n.713T= c.1080T= c.567T= (n.567T=) c.639T= n.292T= n.317T= c.518T= (p.Met173=) c.819T= n.505T= c.826T= c.707T= (p.Met236=) c.638T= (p.Met213=) c.321T= n.465T= n.995T= c.263T= (p.Met88=) | |
| 19 | g.33401858A>C | CA405224777 | PEPD | c.830T>G (p.Met277Arg) c.785T>G (p.Met262Arg) c.881T>G (p.Met294Arg) n.893T>G c.509T>G (p.Met170Arg) c.872T>G (p.Met291Arg) n.713T>G c.1080T>G c.567T>G (n.567T>G) c.639T>G n.292T>G n.317T>G c.518T>G (p.Met173Arg) c.819T>G n.505T>G c.826T>G c.707T>G (p.Met236Arg) c.638T>G (p.Met213Arg) c.321T>G n.465T>G n.995T>G c.263T>G (p.Met88Arg) | gnomAD v4 |
| 19 | g.33401858A>G | CA405224778 | PEPD | c.830T>C (p.Met277Thr) c.785T>C (p.Met262Thr) c.881T>C (p.Met294Thr) n.893T>C c.509T>C (p.Met170Thr) c.872T>C (p.Met291Thr) n.713T>C c.1080T>C c.567T>C (n.567T>C) c.639T>C n.292T>C n.317T>C c.518T>C (p.Met173Thr) c.819T>C n.505T>C c.826T>C c.707T>C (p.Met236Thr) c.638T>C (p.Met213Thr) c.321T>C n.465T>C n.995T>C c.263T>C (p.Met88Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.33401858A>T | CA405224779 | PEPD | c.830T>A (p.Met277Lys) c.785T>A (p.Met262Lys) c.881T>A (p.Met294Lys) n.893T>A c.509T>A (p.Met170Lys) c.872T>A (p.Met291Lys) n.713T>A c.1080T>A c.567T>A (n.567T>A) c.639T>A n.292T>A n.317T>A c.518T>A (p.Met173Lys) c.819T>A n.505T>A c.826T>A c.707T>A (p.Met236Lys) c.638T>A (p.Met213Lys) c.321T>A n.465T>A n.995T>A c.263T>A (p.Met88Lys) | |
| 19 | g.33401859T>A | CA9364102 | PEPD | c.829A>T (p.Met277Leu) c.784A>T (p.Met262Leu) c.880A>T (p.Met294Leu) n.892A>T c.508A>T (p.Met170Leu) c.871A>T (p.Met291Leu) n.712A>T c.1079A>T c.566A>T (n.566A>T) c.638A>T n.291A>T n.316A>T c.517A>T (p.Met173Leu) c.818A>T n.504A>T c.825A>T c.706A>T (p.Met236Leu) c.637A>T (p.Met213Leu) c.320A>T n.464A>T n.994A>T c.262A>T (p.Met88Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.33401859T>C | CA405224783 | PEPD | c.829A>G (p.Met277Val) c.784A>G (p.Met262Val) c.880A>G (p.Met294Val) n.892A>G c.508A>G (p.Met170Val) c.871A>G (p.Met291Val) n.712A>G c.1079A>G c.566A>G (n.566A>G) c.638A>G n.291A>G n.316A>G c.517A>G (p.Met173Val) c.818A>G n.504A>G c.825A>G c.706A>G (p.Met236Val) c.637A>G (p.Met213Val) c.320A>G n.464A>G n.994A>G c.262A>G (p.Met88Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.33401859T>G | CA405224781 | PEPD | c.829A>C (p.Met277Leu) c.784A>C (p.Met262Leu) c.880A>C (p.Met294Leu) n.892A>C c.508A>C (p.Met170Leu) c.871A>C (p.Met291Leu) n.712A>C c.1079A>C c.566A>C (n.566A>C) c.638A>C n.291A>C n.316A>C c.517A>C (p.Met173Leu) c.818A>C n.504A>C c.825A>C c.706A>C (p.Met236Leu) c.637A>C (p.Met213Leu) c.320A>C n.464A>C n.994A>C c.262A>C (p.Met88Leu) | |
| 19 | g.33401859T= | CA2332706147 | PEPD | c.829A= (p.Met277=) c.784A= (p.Met262=) c.880A= (p.Met294=) n.892A= c.508A= (p.Met170=) c.871A= (p.Met291=) n.712A= c.1079A= c.566A= (n.566A=) c.638A= n.291A= n.316A= c.517A= (p.Met173=) c.818A= n.504A= c.825A= c.706A= (p.Met236=) c.637A= (p.Met213=) c.320A= n.464A= n.994A= c.262A= (p.Met88=) | |
| 19 | g.33401860G>A | CA9364103 | PEPD | c.828C>T (p.Asp276=) c.783C>T (p.Asp261=) c.879C>T (p.Asp293=) n.891C>T c.507C>T (p.Asp169=) c.870C>T (p.Asp290=) n.711C>T c.1078C>T c.565C>T (n.565C>T) c.637C>T n.290C>T n.315C>T c.516C>T (p.Asp172=) c.817C>T n.503C>T c.824C>T c.705C>T (p.Asp235=) c.636C>T (p.Asp212=) c.319C>T n.463C>T n.993C>T c.261C>T (p.Asp87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.33401860G>C | CA405224786 | PEPD | c.828C>G (p.Asp276Glu) c.783C>G (p.Asp261Glu) c.879C>G (p.Asp293Glu) n.891C>G c.507C>G (p.Asp169Glu) c.870C>G (p.Asp290Glu) n.711C>G c.1078C>G c.565C>G (n.565C>G) c.637C>G n.290C>G n.315C>G c.516C>G (p.Asp172Glu) c.817C>G n.503C>G c.824C>G c.705C>G (p.Asp235Glu) c.636C>G (p.Asp212Glu) c.319C>G n.463C>G n.993C>G c.261C>G (p.Asp87Glu) | |
| 19 | g.33401860G= | CA2332706148 | PEPD | c.828C= (p.Asp276=) c.783C= (p.Asp261=) c.879C= (p.Asp293=) n.891C= c.507C= (p.Asp169=) c.870C= (p.Asp290=) n.711C= c.1078C= c.565C= (n.565C=) c.637C= n.290C= n.315C= c.516C= (p.Asp172=) c.817C= n.503C= c.824C= c.705C= (p.Asp235=) c.636C= (p.Asp212=) c.319C= n.463C= n.993C= c.261C= (p.Asp87=) | |
| 19 | g.33401860G>T | CA405224788 | PEPD | c.828C>A (p.Asp276Glu) c.783C>A (p.Asp261Glu) c.879C>A (p.Asp293Glu) n.891C>A c.507C>A (p.Asp169Glu) c.870C>A (p.Asp290Glu) n.711C>A c.1078C>A c.565C>A (n.565C>A) c.637C>A n.290C>A n.315C>A c.516C>A (p.Asp172Glu) c.817C>A n.503C>A c.824C>A c.705C>A (p.Asp235Glu) c.636C>A (p.Asp212Glu) c.319C>A n.463C>A n.993C>A c.261C>A (p.Asp87Glu) | |
| 19 | g.33401861T>A | CA405224789 | PEPD | c.827A>T (p.Asp276Val) c.782A>T (p.Asp261Val) c.878A>T (p.Asp293Val) n.890A>T c.506A>T (p.Asp169Val) c.869A>T (p.Asp290Val) n.710A>T c.1077A>T c.564A>T (n.564A>T) c.636A>T n.289A>T n.314A>T c.515A>T (p.Asp172Val) c.816A>T n.502A>T c.823A>T c.704A>T (p.Asp235Val) c.635A>T (p.Asp212Val) c.318A>T n.462A>T n.992A>T c.260A>T (p.Asp87Val) | |
| 19 | g.33401861T>C | CA405224791 | PEPD | c.827A>G (p.Asp276Gly) c.782A>G (p.Asp261Gly) c.878A>G (p.Asp293Gly) n.890A>G c.506A>G (p.Asp169Gly) c.869A>G (p.Asp290Gly) n.710A>G c.1077A>G c.564A>G (n.564A>G) c.636A>G n.289A>G n.314A>G c.515A>G (p.Asp172Gly) c.816A>G n.502A>G c.823A>G c.704A>G (p.Asp235Gly) c.635A>G (p.Asp212Gly) c.318A>G n.462A>G n.992A>G c.260A>G (p.Asp87Gly) | |
| 19 | g.33401861T>G | CA405224793 | PEPD | c.827A>C (p.Asp276Ala) c.782A>C (p.Asp261Ala) c.878A>C (p.Asp293Ala) n.890A>C c.506A>C (p.Asp169Ala) c.869A>C (p.Asp290Ala) n.710A>C c.1077A>C c.564A>C (n.564A>C) c.636A>C n.289A>C n.314A>C c.515A>C (p.Asp172Ala) c.816A>C n.502A>C c.823A>C c.704A>C (p.Asp235Ala) c.635A>C (p.Asp212Ala) c.318A>C n.462A>C n.992A>C c.260A>C (p.Asp87Ala) | |
| 19 | g.33401862C>A | CA405224795 | PEPD | c.826G>T (p.Asp276Tyr) c.781G>T (p.Asp261Tyr) c.877G>T (p.Asp293Tyr) n.889G>T c.505G>T (p.Asp169Tyr) c.868G>T (p.Asp290Tyr) n.709G>T c.1076G>T c.563G>T (n.563G>T) c.635G>T n.288G>T n.313G>T c.514G>T (p.Asp172Tyr) c.815G>T n.501G>T c.822G>T c.703G>T (p.Asp235Tyr) c.634G>T (p.Asp212Tyr) c.317G>T n.461G>T n.991G>T c.259G>T (p.Asp87Tyr) | |
| 19 | g.33401862C= | CA2332706150 | PEPD | c.826G= (p.Asp276=) c.781G= (p.Asp261=) c.877G= (p.Asp293=) n.889G= c.505G= (p.Asp169=) c.868G= (p.Asp290=) n.709G= c.1076G= c.563G= (n.563G=) c.635G= n.288G= n.313G= c.514G= (p.Asp172=) c.815G= n.501G= c.822G= c.703G= (p.Asp235=) c.634G= (p.Asp212=) c.317G= n.461G= n.991G= c.259G= (p.Asp87=) | |
| 19 | g.33401862C>G | CA405224796 | PEPD | c.826G>C (p.Asp276His) c.781G>C (p.Asp261His) c.877G>C (p.Asp293His) n.889G>C c.505G>C (p.Asp169His) c.868G>C (p.Asp290His) n.709G>C c.1076G>C c.563G>C (n.563G>C) c.635G>C n.288G>C n.313G>C c.514G>C (p.Asp172His) c.815G>C n.501G>C c.822G>C c.703G>C (p.Asp235His) c.634G>C (p.Asp212His) c.317G>C n.461G>C n.991G>C c.259G>C (p.Asp87His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.33401862C>T | CA214908 | PEPD | c.826G>A (p.Asp276Asn) c.781G>A (p.Asp261Asn) c.877G>A (p.Asp293Asn) n.889G>A c.505G>A (p.Asp169Asn) c.868G>A (p.Asp290Asn) n.709G>A c.1076G>A c.563G>A (n.563G>A) c.635G>A n.288G>A n.313G>A c.514G>A (p.Asp172Asn) c.815G>A n.501G>A c.822G>A c.703G>A (p.Asp235Asn) c.634G>A (p.Asp212Asn) c.317G>A n.461G>A n.991G>A c.259G>A (p.Asp87Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.33401862_33401863delinsCG | CA2332706149 | PEPD | c.825_826delinsCG (p.Phe275=) c.780_781delinsCG (p.Phe260=) c.876_877delinsCG (p.Phe292=) n.888_889delinsCG c.504_505delinsCG (p.Phe168=) c.867_868delinsCG (p.Phe289=) n.708_709delinsCG c.1075_1076delinsCG c.562_563delinsCG (n.562_563delinsCG) c.634_635delinsCG n.287_288delinsCG n.312_313delinsCG c.513_514delinsCG (p.Phe171=) c.814_815delinsCG n.500_501delinsCG c.821_822delinsCG c.702_703delinsCG (p.Phe234=) c.633_634delinsCG (p.Phe211=) c.316_317delinsCG n.460_461delinsCG n.990_991delinsCG c.258_259delinsCG (p.Phe86=) | |
| 19 | g.33401863del | CA9364104 | PEPD | c.825del (p.Phe275LeufsTer?) c.780del (p.Phe260LeufsTer?) c.876del (p.Phe292LeufsTer?) n.888del c.504del (p.Phe168LeufsTer?) c.867del (p.Phe289LeufsTer?) n.708del c.1075del c.562del (n.562del) c.634del n.287del n.312del c.513del (p.Phe171LeufsTer?) c.814del n.500del c.821del c.702del (p.Phe234LeufsTer?) c.633del (p.Phe211LeufsTer?) c.316del n.460del n.990del c.258del (p.Phe86LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.33401863G>A | CA506688214 | PEPD | c.825C>T (p.Phe275=) c.780C>T (p.Phe260=) c.876C>T (p.Phe292=) n.888C>T c.504C>T (p.Phe168=) c.867C>T (p.Phe289=) n.708C>T c.1075C>T c.562C>T (n.562C>T) c.634C>T n.287C>T n.312C>T c.513C>T (p.Phe171=) c.814C>T n.500C>T c.821C>T c.702C>T (p.Phe234=) c.633C>T (p.Phe211=) c.316C>T n.460C>T n.990C>T c.258C>T (p.Phe86=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.33401863G>C | CA405224800 | PEPD | c.825C>G (p.Phe275Leu) c.780C>G (p.Phe260Leu) c.876C>G (p.Phe292Leu) n.888C>G c.504C>G (p.Phe168Leu) c.867C>G (p.Phe289Leu) n.708C>G c.1075C>G c.562C>G (n.562C>G) c.634C>G n.287C>G n.312C>G c.513C>G (p.Phe171Leu) c.814C>G n.500C>G c.821C>G c.702C>G (p.Phe234Leu) c.633C>G (p.Phe211Leu) c.316C>G n.460C>G n.990C>G c.258C>G (p.Phe86Leu) | |
| 19 | g.33401863G= | CA2332706151 | PEPD | c.825C= (p.Phe275=) c.780C= (p.Phe260=) c.876C= (p.Phe292=) n.888C= c.504C= (p.Phe168=) c.867C= (p.Phe289=) n.708C= c.1075C= c.562C= (n.562C=) c.634C= n.287C= n.312C= c.513C= (p.Phe171=) c.814C= n.500C= c.821C= c.702C= (p.Phe234=) c.633C= (p.Phe211=) c.316C= n.460C= n.990C= c.258C= (p.Phe86=) | |
| 19 | g.33401863G>T | CA405224802 | PEPD | c.825C>A (p.Phe275Leu) c.780C>A (p.Phe260Leu) c.876C>A (p.Phe292Leu) n.888C>A c.504C>A (p.Phe168Leu) c.867C>A (p.Phe289Leu) n.708C>A c.1075C>A c.562C>A (n.562C>A) c.634C>A n.287C>A n.312C>A c.513C>A (p.Phe171Leu) c.814C>A n.500C>A c.821C>A c.702C>A (p.Phe234Leu) c.633C>A (p.Phe211Leu) c.316C>A n.460C>A n.990C>A c.258C>A (p.Phe86Leu) | gnomAD v4 |
| 19 | g.33401864A>C | CA405224808 | PEPD | c.824T>G (p.Phe275Cys) c.779T>G (p.Phe260Cys) c.875T>G (p.Phe292Cys) n.887T>G c.503T>G (p.Phe168Cys) c.866T>G (p.Phe289Cys) n.707T>G c.1074T>G c.561T>G (n.561T>G) c.633T>G n.286T>G n.311T>G c.512T>G (p.Phe171Cys) c.813T>G n.499T>G c.820T>G c.701T>G (p.Phe234Cys) c.632T>G (p.Phe211Cys) c.315T>G n.459T>G n.989T>G c.257T>G (p.Phe86Cys) | |
| 19 | g.33401864A>G | CA405224806 | PEPD | c.824T>C (p.Phe275Ser) c.779T>C (p.Phe260Ser) c.875T>C (p.Phe292Ser) n.887T>C c.503T>C (p.Phe168Ser) c.866T>C (p.Phe289Ser) n.707T>C c.1074T>C c.561T>C (n.561T>C) c.633T>C n.286T>C n.311T>C c.512T>C (p.Phe171Ser) c.813T>C n.499T>C c.820T>C c.701T>C (p.Phe234Ser) c.632T>C (p.Phe211Ser) c.315T>C n.459T>C n.989T>C c.257T>C (p.Phe86Ser) | |
| 19 | g.33401864A>T | CA405224804 | PEPD | c.824T>A (p.Phe275Tyr) c.779T>A (p.Phe260Tyr) c.875T>A (p.Phe292Tyr) n.887T>A c.503T>A (p.Phe168Tyr) c.866T>A (p.Phe289Tyr) n.707T>A c.1074T>A c.561T>A (n.561T>A) c.633T>A n.286T>A n.311T>A c.512T>A (p.Phe171Tyr) c.813T>A n.499T>A c.820T>A c.701T>A (p.Phe234Tyr) c.632T>A (p.Phe211Tyr) c.315T>A n.459T>A n.989T>A c.257T>A (p.Phe86Tyr) | |
| 19 | g.33401865A= | CA2332706152 | PEPD | c.823T= (p.Phe275=) c.778T= (p.Phe260=) c.874T= (p.Phe292=) n.886T= c.502T= (p.Phe168=) c.865T= (p.Phe289=) n.706T= c.1073T= c.560T= (n.560T=) c.632T= n.285T= n.310T= c.511T= (p.Phe171=) c.812T= n.498T= c.819T= c.700T= (p.Phe234=) c.631T= (p.Phe211=) c.314T= n.458T= n.988T= c.256T= (p.Phe86=) | |
| 19 | g.33401865A>C | CA405224810 | PEPD | c.823T>G (p.Phe275Val) c.778T>G (p.Phe260Val) c.874T>G (p.Phe292Val) n.886T>G c.502T>G (p.Phe168Val) c.865T>G (p.Phe289Val) n.706T>G c.1073T>G c.560T>G (n.560T>G) c.632T>G n.285T>G n.310T>G c.511T>G (p.Phe171Val) c.812T>G n.498T>G c.819T>G c.700T>G (p.Phe234Val) c.631T>G (p.Phe211Val) c.314T>G n.458T>G n.988T>G c.256T>G (p.Phe86Val) | |
| 19 | g.33401865A>G | CA405224812 | PEPD | c.823T>C (p.Phe275Leu) c.778T>C (p.Phe260Leu) c.874T>C (p.Phe292Leu) n.886T>C c.502T>C (p.Phe168Leu) c.865T>C (p.Phe289Leu) n.706T>C c.1073T>C c.560T>C (n.560T>C) c.632T>C n.285T>C n.310T>C c.511T>C (p.Phe171Leu) c.812T>C n.498T>C c.819T>C c.700T>C (p.Phe234Leu) c.631T>C (p.Phe211Leu) c.314T>C n.458T>C n.988T>C c.256T>C (p.Phe86Leu) | dbSNP gnomAD v4 |
| 19 | g.33401865A>T | CA405224814 | PEPD | c.823T>A (p.Phe275Ile) c.778T>A (p.Phe260Ile) c.874T>A (p.Phe292Ile) n.886T>A c.502T>A (p.Phe168Ile) c.865T>A (p.Phe289Ile) n.706T>A c.1073T>A c.560T>A (n.560T>A) c.632T>A n.285T>A n.310T>A c.511T>A (p.Phe171Ile) c.812T>A n.498T>A c.819T>A c.700T>A (p.Phe234Ile) c.631T>A (p.Phe211Ile) c.314T>A n.458T>A n.988T>A c.256T>A (p.Phe86Ile) | |
| 19 | g.33401866C>A | CA506688224 | PEPD | c.822G>T (p.Leu274=) c.777G>T (p.Leu259=) c.873G>T (p.Leu291=) n.885G>T c.501G>T (p.Leu167=) c.864G>T (p.Leu288=) n.705G>T c.1072G>T c.559G>T (n.559G>T) c.631G>T n.284G>T n.309G>T c.510G>T (p.Leu170=) c.811G>T n.497G>T c.818G>T c.699G>T (p.Leu233=) c.630G>T (p.Leu210=) c.313G>T n.457G>T n.987G>T c.255G>T (p.Leu85=) | |
| 19 | g.33401866C>G | CA506688226 | PEPD | c.822G>C (p.Leu274=) c.777G>C (p.Leu259=) c.873G>C (p.Leu291=) n.885G>C c.501G>C (p.Leu167=) c.864G>C (p.Leu288=) n.705G>C c.1072G>C c.559G>C (n.559G>C) c.631G>C n.284G>C n.309G>C c.510G>C (p.Leu170=) c.811G>C n.497G>C c.818G>C c.699G>C (p.Leu233=) c.630G>C (p.Leu210=) c.313G>C n.457G>C n.987G>C c.255G>C (p.Leu85=) | |
| 19 | g.33401866C>T | CA506688228 | PEPD | c.822G>A (p.Leu274=) c.777G>A (p.Leu259=) c.873G>A (p.Leu291=) n.885G>A c.501G>A (p.Leu167=) c.864G>A (p.Leu288=) n.705G>A c.1072G>A c.559G>A (n.559G>A) c.631G>A n.284G>A n.309G>A c.510G>A (p.Leu170=) c.811G>A n.497G>A c.818G>A c.699G>A (p.Leu233=) c.630G>A (p.Leu210=) c.313G>A n.457G>A n.987G>A c.255G>A (p.Leu85=) | |
| 19 | g.33401867A>C | CA405224816 | PEPD | c.821T>G (p.Leu274Arg) c.776T>G (p.Leu259Arg) c.872T>G (p.Leu291Arg) n.884T>G c.500T>G (p.Leu167Arg) c.863T>G (p.Leu288Arg) n.704T>G c.1071T>G c.558T>G (n.558T>G) c.630T>G n.283T>G n.308T>G c.509T>G (p.Leu170Arg) c.810T>G n.496T>G c.817T>G c.698T>G (p.Leu233Arg) c.629T>G (p.Leu210Arg) c.312T>G n.456T>G n.986T>G c.254T>G (p.Leu85Arg) | |
| 19 | g.33401867A>G | CA405224818 | PEPD | c.821T>C (p.Leu274Pro) c.776T>C (p.Leu259Pro) c.872T>C (p.Leu291Pro) n.884T>C c.500T>C (p.Leu167Pro) c.863T>C (p.Leu288Pro) n.704T>C c.1071T>C c.558T>C (n.558T>C) c.630T>C n.283T>C n.308T>C c.509T>C (p.Leu170Pro) c.810T>C n.496T>C c.817T>C c.698T>C (p.Leu233Pro) c.629T>C (p.Leu210Pro) c.312T>C n.456T>C n.986T>C c.254T>C (p.Leu85Pro) | gnomAD v4 |
| 19 | g.33401867A>T | CA405224819 | PEPD | c.821T>A (p.Leu274Gln) c.776T>A (p.Leu259Gln) c.872T>A (p.Leu291Gln) n.884T>A c.500T>A (p.Leu167Gln) c.863T>A (p.Leu288Gln) n.704T>A c.1071T>A c.558T>A (n.558T>A) c.630T>A n.283T>A n.308T>A c.509T>A (p.Leu170Gln) c.810T>A n.496T>A c.817T>A c.698T>A (p.Leu233Gln) c.629T>A (p.Leu210Gln) c.312T>A n.456T>A n.986T>A c.254T>A (p.Leu85Gln) | |
| 19 | g.33401868G>A | CA506688234 | PEPD | c.820C>T (p.Leu274=) c.775C>T (p.Leu259=) c.871C>T (p.Leu291=) n.883C>T c.499C>T (p.Leu167=) c.862C>T (p.Leu288=) n.703C>T c.1070C>T c.557C>T (n.557C>T) c.629C>T n.282C>T n.307C>T c.508C>T (p.Leu170=) c.809C>T n.495C>T c.816C>T c.697C>T (p.Leu233=) c.628C>T (p.Leu210=) c.311C>T n.455C>T n.985C>T c.253C>T (p.Leu85=) | gnomAD v4 |
| 19 | g.33401868G>C | CA405224821 | PEPD | c.820C>G (p.Leu274Val) c.775C>G (p.Leu259Val) c.871C>G (p.Leu291Val) n.883C>G c.499C>G (p.Leu167Val) c.862C>G (p.Leu288Val) n.703C>G c.1070C>G c.557C>G (n.557C>G) c.629C>G n.282C>G n.307C>G c.508C>G (p.Leu170Val) c.809C>G n.495C>G c.816C>G c.697C>G (p.Leu233Val) c.628C>G (p.Leu210Val) c.311C>G n.455C>G n.985C>G c.253C>G (p.Leu85Val) |