Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.45910627T>A | CA402340077 | EPG5 | n.2283A>T c.4099A>T (p.Ser1367Cys) c.3839A>T (n.3839A>T) n.878A>T c.724A>T (p.Ser242Cys) n.4134A>T c.4126A>T (p.Ser1376Cys) c.3985A>T (p.Ser1329Cys) c.3061A>T (p.Ser1021Cys) n.4199A>T c.3958A>T (p.Ser1320Cys) c.3034A>T (p.Ser1012Cys) n.4181A>T | |
18 | g.45910627T>C | CA402340076 | EPG5 | n.2283A>G c.4099A>G (p.Ser1367Gly) c.3839A>G (n.3839A>G) n.878A>G c.724A>G (p.Ser242Gly) n.4134A>G c.4126A>G (p.Ser1376Gly) c.3985A>G (p.Ser1329Gly) c.3061A>G (p.Ser1021Gly) n.4199A>G c.3958A>G (p.Ser1320Gly) c.3034A>G (p.Ser1012Gly) n.4181A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910627T>G | CA402340075 | EPG5 | n.2283A>C c.4099A>C (p.Ser1367Arg) c.3839A>C (n.3839A>C) n.878A>C c.724A>C (p.Ser242Arg) n.4134A>C c.4126A>C (p.Ser1376Arg) c.3985A>C (p.Ser1329Arg) c.3061A>C (p.Ser1021Arg) n.4199A>C c.3958A>C (p.Ser1320Arg) c.3034A>C (p.Ser1012Arg) n.4181A>C | gnomAD v4 |
18 | g.45910627T= | CA2300590885 | EPG5 | n.2283A= c.4099A= (p.Ser1367=) c.3839A= (n.3839A=) n.878A= c.724A= (p.Ser242=) n.4134A= c.4126A= (p.Ser1376=) c.3985A= (p.Ser1329=) c.3061A= (p.Ser1021=) n.4199A= c.3958A= (p.Ser1320=) c.3034A= (p.Ser1012=) n.4181A= | |
18 | g.45910628T>A | CA503793749 | EPG5 | n.2282A>T c.4098A>T (p.Ala1366=) c.3838A>T (n.3838A>T) n.877A>T c.723A>T (p.Ala241=) n.4133A>T c.4125A>T (p.Ala1375=) c.3984A>T (p.Ala1328=) c.3060A>T (p.Ala1020=) n.4198A>T c.3957A>T (p.Ala1319=) c.3033A>T (p.Ala1011=) n.4180A>T | |
18 | g.45910628T>C | CA503793750 | EPG5 | n.2282A>G c.4098A>G (p.Ala1366=) c.3838A>G (n.3838A>G) n.877A>G c.723A>G (p.Ala241=) n.4133A>G c.4125A>G (p.Ala1375=) c.3984A>G (p.Ala1328=) c.3060A>G (p.Ala1020=) n.4198A>G c.3957A>G (p.Ala1319=) c.3033A>G (p.Ala1011=) n.4180A>G | |
18 | g.45910628T>G | CA503793751 | EPG5 | n.2282A>C c.4098A>C (p.Ala1366=) c.3838A>C (n.3838A>C) n.877A>C c.723A>C (p.Ala241=) n.4133A>C c.4125A>C (p.Ala1375=) c.3984A>C (p.Ala1328=) c.3060A>C (p.Ala1020=) n.4198A>C c.3957A>C (p.Ala1319=) c.3033A>C (p.Ala1011=) n.4180A>C | |
18 | g.45910629G>A | CA402340078 | EPG5 | n.2281C>T c.4097C>T (p.Ala1366Val) c.3837C>T (n.3837C>T) n.876C>T c.722C>T (p.Ala241Val) n.4132C>T c.4124C>T (p.Ala1375Val) c.3983C>T (p.Ala1328Val) c.3059C>T (p.Ala1020Val) n.4197C>T c.3956C>T (p.Ala1319Val) c.3032C>T (p.Ala1011Val) n.4179C>T | |
18 | g.45910629G>C | CA402340079 | EPG5 | n.2281C>G c.4097C>G (p.Ala1366Gly) c.3837C>G (n.3837C>G) n.876C>G c.722C>G (p.Ala241Gly) n.4132C>G c.4124C>G (p.Ala1375Gly) c.3983C>G (p.Ala1328Gly) c.3059C>G (p.Ala1020Gly) n.4197C>G c.3956C>G (p.Ala1319Gly) c.3032C>G (p.Ala1011Gly) n.4179C>G | |
18 | g.45910629G>T | CA402340080 | EPG5 | n.2281C>A c.4097C>A (p.Ala1366Glu) c.3837C>A (n.3837C>A) n.876C>A c.722C>A (p.Ala241Glu) n.4132C>A c.4124C>A (p.Ala1375Glu) c.3983C>A (p.Ala1328Glu) c.3059C>A (p.Ala1020Glu) n.4197C>A c.3956C>A (p.Ala1319Glu) c.3032C>A (p.Ala1011Glu) n.4179C>A | |
18 | g.45910630C>A | CA402340081 | EPG5 | n.2280G>T c.4096G>T (p.Ala1366Ser) c.3836G>T (n.3836G>T) n.875G>T c.721G>T (p.Ala241Ser) n.4131G>T c.4123G>T (p.Ala1375Ser) c.3982G>T (p.Ala1328Ser) c.3058G>T (p.Ala1020Ser) n.4196G>T c.3955G>T (p.Ala1319Ser) c.3031G>T (p.Ala1011Ser) n.4178G>T | |
18 | g.45910630C>G | CA402340082 | EPG5 | n.2280G>C c.4096G>C (p.Ala1366Pro) c.3836G>C (n.3836G>C) n.875G>C c.721G>C (p.Ala241Pro) n.4131G>C c.4123G>C (p.Ala1375Pro) c.3982G>C (p.Ala1328Pro) c.3058G>C (p.Ala1020Pro) n.4196G>C c.3955G>C (p.Ala1319Pro) c.3031G>C (p.Ala1011Pro) n.4178G>C | |
18 | g.45910630C>T | CA402340083 | EPG5 | n.2280G>A c.4096G>A (p.Ala1366Thr) c.3836G>A (n.3836G>A) n.875G>A c.721G>A (p.Ala241Thr) n.4131G>A c.4123G>A (p.Ala1375Thr) c.3982G>A (p.Ala1328Thr) c.3058G>A (p.Ala1020Thr) n.4196G>A c.3955G>A (p.Ala1319Thr) c.3031G>A (p.Ala1011Thr) n.4178G>A | |
18 | g.45910631A>C | CA503793753 | EPG5 | n.2279T>G c.4095T>G (p.Ala1365=) c.3835T>G (n.3835T>G) n.874T>G c.720T>G (p.Ala240=) n.4130T>G c.4122T>G (p.Ala1374=) c.3981T>G (p.Ala1327=) c.3057T>G (p.Ala1019=) n.4195T>G c.3954T>G (p.Ala1318=) c.3030T>G (p.Ala1010=) n.4177T>G | |
18 | g.45910631A>G | CA503793754 | EPG5 | n.2279T>C c.4095T>C (p.Ala1365=) c.3835T>C (n.3835T>C) n.874T>C c.720T>C (p.Ala240=) n.4130T>C c.4122T>C (p.Ala1374=) c.3981T>C (p.Ala1327=) c.3057T>C (p.Ala1019=) n.4195T>C c.3954T>C (p.Ala1318=) c.3030T>C (p.Ala1010=) n.4177T>C | ClinVar gnomAD v4 |
18 | g.45910631A>T | CA503793755 | EPG5 | n.2279T>A c.4095T>A (p.Ala1365=) c.3835T>A (n.3835T>A) n.874T>A c.720T>A (p.Ala240=) n.4130T>A c.4122T>A (p.Ala1374=) c.3981T>A (p.Ala1327=) c.3057T>A (p.Ala1019=) n.4195T>A c.3954T>A (p.Ala1318=) c.3030T>A (p.Ala1010=) n.4177T>A | |
18 | g.45910632G>A | CA402340084 | EPG5 | n.2278C>T c.4094C>T (p.Ala1365Val) c.3834C>T (n.3834C>T) n.873C>T c.719C>T (p.Ala240Val) n.4129C>T c.4121C>T (p.Ala1374Val) c.3980C>T (p.Ala1327Val) c.3056C>T (p.Ala1019Val) n.4194C>T c.3953C>T (p.Ala1318Val) c.3029C>T (p.Ala1010Val) n.4176C>T | |
18 | g.45910632G>C | CA402340085 | EPG5 | n.2278C>G c.4094C>G (p.Ala1365Gly) c.3834C>G (n.3834C>G) n.873C>G c.719C>G (p.Ala240Gly) n.4129C>G c.4121C>G (p.Ala1374Gly) c.3980C>G (p.Ala1327Gly) c.3056C>G (p.Ala1019Gly) n.4194C>G c.3953C>G (p.Ala1318Gly) c.3029C>G (p.Ala1010Gly) n.4176C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.45910632G= | CA2300590886 | EPG5 | n.2278C= c.4094C= (p.Ala1365=) c.3834C= (n.3834C=) n.873C= c.719C= (p.Ala240=) n.4129C= c.4121C= (p.Ala1374=) c.3980C= (p.Ala1327=) c.3056C= (p.Ala1019=) n.4194C= c.3953C= (p.Ala1318=) c.3029C= (p.Ala1010=) n.4176C= | |
18 | g.45910632G>T | CA402340086 | EPG5 | n.2278C>A c.4094C>A (p.Ala1365Asp) c.3834C>A (n.3834C>A) n.873C>A c.719C>A (p.Ala240Asp) n.4129C>A c.4121C>A (p.Ala1374Asp) c.3980C>A (p.Ala1327Asp) c.3056C>A (p.Ala1019Asp) n.4194C>A c.3953C>A (p.Ala1318Asp) c.3029C>A (p.Ala1010Asp) n.4176C>A | |
18 | g.45910633C>A | CA402340087 | EPG5 | n.2277G>T c.4093G>T (p.Ala1365Ser) c.3833G>T (n.3833G>T) n.872G>T c.718G>T (p.Ala240Ser) n.4128G>T c.4120G>T (p.Ala1374Ser) c.3979G>T (p.Ala1327Ser) c.3055G>T (p.Ala1019Ser) n.4193G>T c.3952G>T (p.Ala1318Ser) c.3028G>T (p.Ala1010Ser) n.4175G>T | |
18 | g.45910633C= | CA2300590887 | EPG5 | n.2277G= c.4093G= (p.Ala1365=) c.3833G= (n.3833G=) n.872G= c.718G= (p.Ala240=) n.4128G= c.4120G= (p.Ala1374=) c.3979G= (p.Ala1327=) c.3055G= (p.Ala1019=) n.4193G= c.3952G= (p.Ala1318=) c.3028G= (p.Ala1010=) n.4175G= | |
18 | g.45910633C>G | CA402340088 | EPG5 | n.2277G>C c.4093G>C (p.Ala1365Pro) c.3833G>C (n.3833G>C) n.872G>C c.718G>C (p.Ala240Pro) n.4128G>C c.4120G>C (p.Ala1374Pro) c.3979G>C (p.Ala1327Pro) c.3055G>C (p.Ala1019Pro) n.4193G>C c.3952G>C (p.Ala1318Pro) c.3028G>C (p.Ala1010Pro) n.4175G>C | |
18 | g.45910633C>T | CA402340089 | EPG5 | n.2277G>A c.4093G>A (p.Ala1365Thr) c.3833G>A (n.3833G>A) n.872G>A c.718G>A (p.Ala240Thr) n.4128G>A c.4120G>A (p.Ala1374Thr) c.3979G>A (p.Ala1327Thr) c.3055G>A (p.Ala1019Thr) n.4193G>A c.3952G>A (p.Ala1318Thr) c.3028G>A (p.Ala1010Thr) n.4175G>A | dbSNP gnomAD v2 |
18 | g.45910634A>C | CA402340091 | EPG5 | n.2276T>G c.4092T>G (p.His1364Gln) c.3832T>G (n.3832T>G) n.871T>G c.717T>G (p.His239Gln) n.4127T>G c.4119T>G (p.His1373Gln) c.3978T>G (p.His1326Gln) c.3054T>G (p.His1018Gln) n.4192T>G c.3951T>G (p.His1317Gln) c.3027T>G (p.His1009Gln) n.4174T>G | |
18 | g.45910634A>G | CA503793759 | EPG5 | n.2276T>C c.4092T>C (p.His1364=) c.3832T>C (n.3832T>C) n.871T>C c.717T>C (p.His239=) n.4127T>C c.4119T>C (p.His1373=) c.3978T>C (p.His1326=) c.3054T>C (p.His1018=) n.4192T>C c.3951T>C (p.His1317=) c.3027T>C (p.His1009=) n.4174T>C | |
18 | g.45910634A>T | CA402340090 | EPG5 | n.2276T>A c.4092T>A (p.His1364Gln) c.3832T>A (n.3832T>A) n.871T>A c.717T>A (p.His239Gln) n.4127T>A c.4119T>A (p.His1373Gln) c.3978T>A (p.His1326Gln) c.3054T>A (p.His1018Gln) n.4192T>A c.3951T>A (p.His1317Gln) c.3027T>A (p.His1009Gln) n.4174T>A | |
18 | g.45910635T>A | CA402340092 | EPG5 | n.2275A>T c.4091A>T (p.His1364Leu) c.3831A>T (n.3831A>T) n.870A>T c.716A>T (p.His239Leu) n.4126A>T c.4118A>T (p.His1373Leu) c.3977A>T (p.His1326Leu) c.3053A>T (p.His1018Leu) n.4191A>T c.3950A>T (p.His1317Leu) c.3026A>T (p.His1009Leu) n.4173A>T | |
18 | g.45910635T>C | CA8948984 | EPG5 | n.2275A>G c.4091A>G (p.His1364Arg) c.3831A>G (n.3831A>G) n.870A>G c.716A>G (p.His239Arg) n.4126A>G c.4118A>G (p.His1373Arg) c.3977A>G (p.His1326Arg) c.3053A>G (p.His1018Arg) n.4191A>G c.3950A>G (p.His1317Arg) c.3026A>G (p.His1009Arg) n.4173A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910635T>G | CA402340093 | EPG5 | n.2275A>C c.4091A>C (p.His1364Pro) c.3831A>C (n.3831A>C) n.870A>C c.716A>C (p.His239Pro) n.4126A>C c.4118A>C (p.His1373Pro) c.3977A>C (p.His1326Pro) c.3053A>C (p.His1018Pro) n.4191A>C c.3950A>C (p.His1317Pro) c.3026A>C (p.His1009Pro) n.4173A>C | |
18 | g.45910635T= | CA2300590888 | EPG5 | n.2275A= c.4091A= (p.His1364=) c.3831A= (n.3831A=) n.870A= c.716A= (p.His239=) n.4126A= c.4118A= (p.His1373=) c.3977A= (p.His1326=) c.3053A= (p.His1018=) n.4191A= c.3950A= (p.His1317=) c.3026A= (p.His1009=) n.4173A= | |
18 | g.45910636G>A | CA402340094 | EPG5 | n.2274C>T c.4090C>T (p.His1364Tyr) c.3830C>T (n.3830C>T) n.869C>T c.715C>T (p.His239Tyr) n.4125C>T c.4117C>T (p.His1373Tyr) c.3976C>T (p.His1326Tyr) c.3052C>T (p.His1018Tyr) n.4190C>T c.3949C>T (p.His1317Tyr) c.3025C>T (p.His1009Tyr) n.4172C>T | |
18 | g.45910636G>C | CA402340095 | EPG5 | n.2274C>G c.4090C>G (p.His1364Asp) c.3830C>G (n.3830C>G) n.869C>G c.715C>G (p.His239Asp) n.4125C>G c.4117C>G (p.His1373Asp) c.3976C>G (p.His1326Asp) c.3052C>G (p.His1018Asp) n.4190C>G c.3949C>G (p.His1317Asp) c.3025C>G (p.His1009Asp) n.4172C>G | |
18 | g.45910636G>T | CA402340096 | EPG5 | n.2274C>A c.4090C>A (p.His1364Asn) c.3830C>A (n.3830C>A) n.869C>A c.715C>A (p.His239Asn) n.4125C>A c.4117C>A (p.His1373Asn) c.3976C>A (p.His1326Asn) c.3052C>A (p.His1018Asn) n.4190C>A c.3949C>A (p.His1317Asn) c.3025C>A (p.His1009Asn) n.4172C>A | |
18 | g.45910637G>A | CA8948985 | EPG5 | n.2273C>T c.4089C>T (p.His1363=) c.3829C>T (n.3829C>T) n.868C>T c.714C>T (p.His238=) n.4124C>T c.4116C>T (p.His1372=) c.3975C>T (p.His1325=) c.3051C>T (p.His1017=) n.4189C>T c.3948C>T (p.His1316=) c.3024C>T (p.His1008=) n.4171C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910637G>C | CA402340097 | EPG5 | n.2273C>G c.4089C>G (p.His1363Gln) c.3829C>G (n.3829C>G) n.868C>G c.714C>G (p.His238Gln) n.4124C>G c.4116C>G (p.His1372Gln) c.3975C>G (p.His1325Gln) c.3051C>G (p.His1017Gln) n.4189C>G c.3948C>G (p.His1316Gln) c.3024C>G (p.His1008Gln) n.4171C>G | |
18 | g.45910637G= | CA2300590889 | EPG5 | n.2273C= c.4089C= (p.His1363=) c.3829C= (n.3829C=) n.868C= c.714C= (p.His238=) n.4124C= c.4116C= (p.His1372=) c.3975C= (p.His1325=) c.3051C= (p.His1017=) n.4189C= c.3948C= (p.His1316=) c.3024C= (p.His1008=) n.4171C= | |
18 | g.45910637G>T | CA402340098 | EPG5 | n.2273C>A c.4089C>A (p.His1363Gln) c.3829C>A (n.3829C>A) n.868C>A c.714C>A (p.His238Gln) n.4124C>A c.4116C>A (p.His1372Gln) c.3975C>A (p.His1325Gln) c.3051C>A (p.His1017Gln) n.4189C>A c.3948C>A (p.His1316Gln) c.3024C>A (p.His1008Gln) n.4171C>A | |
18 | g.45910638T>A | CA402340099 | EPG5 | n.2272A>T c.4088A>T (p.His1363Leu) c.3828A>T (n.3828A>T) n.867A>T c.713A>T (p.His238Leu) n.4123A>T c.4115A>T (p.His1372Leu) c.3974A>T (p.His1325Leu) c.3050A>T (p.His1017Leu) n.4188A>T c.3947A>T (p.His1316Leu) c.3023A>T (p.His1008Leu) n.4170A>T | |
18 | g.45910638T>C | CA402340100 | EPG5 | n.2272A>G c.4088A>G (p.His1363Arg) c.3828A>G (n.3828A>G) n.867A>G c.713A>G (p.His238Arg) n.4123A>G c.4115A>G (p.His1372Arg) c.3974A>G (p.His1325Arg) c.3050A>G (p.His1017Arg) n.4188A>G c.3947A>G (p.His1316Arg) c.3023A>G (p.His1008Arg) n.4170A>G | |
18 | g.45910638T>G | CA402340101 | EPG5 | n.2272A>C c.4088A>C (p.His1363Pro) c.3828A>C (n.3828A>C) n.867A>C c.713A>C (p.His238Pro) n.4123A>C c.4115A>C (p.His1372Pro) c.3974A>C (p.His1325Pro) c.3050A>C (p.His1017Pro) n.4188A>C c.3947A>C (p.His1316Pro) c.3023A>C (p.His1008Pro) n.4170A>C | |
18 | g.45910639G>A | CA402340103 | EPG5 | n.2271C>T c.4087C>T (p.His1363Tyr) c.3827C>T (n.3827C>T) n.866C>T c.712C>T (p.His238Tyr) n.4122C>T c.4114C>T (p.His1372Tyr) c.3973C>T (p.His1325Tyr) c.3049C>T (p.His1017Tyr) n.4187C>T c.3946C>T (p.His1316Tyr) c.3022C>T (p.His1008Tyr) n.4169C>T | |
18 | g.45910639G>C | CA402340102 | EPG5 | n.2271C>G c.4087C>G (p.His1363Asp) c.3827C>G (n.3827C>G) n.866C>G c.712C>G (p.His238Asp) n.4122C>G c.4114C>G (p.His1372Asp) c.3973C>G (p.His1325Asp) c.3049C>G (p.His1017Asp) n.4187C>G c.3946C>G (p.His1316Asp) c.3022C>G (p.His1008Asp) n.4169C>G | |
18 | g.45910639G= | CA2300590890 | EPG5 | n.2271C= c.4087C= (p.His1363=) c.3827C= (n.3827C=) n.866C= c.712C= (p.His238=) n.4122C= c.4114C= (p.His1372=) c.3973C= (p.His1325=) c.3049C= (p.His1017=) n.4187C= c.3946C= (p.His1316=) c.3022C= (p.His1008=) n.4169C= | |
18 | g.45910639G>T | CA299760431 | EPG5 | n.2271C>A c.4087C>A (p.His1363Asn) c.3827C>A (n.3827C>A) n.866C>A c.712C>A (p.His238Asn) n.4122C>A c.4114C>A (p.His1372Asn) c.3973C>A (p.His1325Asn) c.3049C>A (p.His1017Asn) n.4187C>A c.3946C>A (p.His1316Asn) c.3022C>A (p.His1008Asn) n.4169C>A | dbSNP gnomAD v3 gnomAD v4 |
18 | g.45910640G>A | CA503793763 | EPG5 | n.2270C>T c.4086C>T (p.Phe1362=) c.3826C>T (n.3826C>T) n.865C>T c.711C>T (p.Phe237=) n.4121C>T c.4113C>T (p.Phe1371=) c.3972C>T (p.Phe1324=) c.3048C>T (p.Phe1016=) n.4186C>T c.3945C>T (p.Phe1315=) c.3021C>T (p.Phe1007=) n.4168C>T | |
18 | g.45910640G>C | CA299760432 | EPG5 | n.2270C>G c.4086C>G (p.Phe1362Leu) c.3826C>G (n.3826C>G) n.865C>G c.711C>G (p.Phe237Leu) n.4121C>G c.4113C>G (p.Phe1371Leu) c.3972C>G (p.Phe1324Leu) c.3048C>G (p.Phe1016Leu) n.4186C>G c.3945C>G (p.Phe1315Leu) c.3021C>G (p.Phe1007Leu) n.4168C>G | dbSNP gnomAD v3 gnomAD v4 |
18 | g.45910640G= | CA2300590891 | EPG5 | n.2270C= c.4086C= (p.Phe1362=) c.3826C= (n.3826C=) n.865C= c.711C= (p.Phe237=) n.4121C= c.4113C= (p.Phe1371=) c.3972C= (p.Phe1324=) c.3048C= (p.Phe1016=) n.4186C= c.3945C= (p.Phe1315=) c.3021C= (p.Phe1007=) n.4168C= | |
18 | g.45910640G>T | CA402340104 | EPG5 | n.2270C>A c.4086C>A (p.Phe1362Leu) c.3826C>A (n.3826C>A) n.865C>A c.711C>A (p.Phe237Leu) n.4121C>A c.4113C>A (p.Phe1371Leu) c.3972C>A (p.Phe1324Leu) c.3048C>A (p.Phe1016Leu) n.4186C>A c.3945C>A (p.Phe1315Leu) c.3021C>A (p.Phe1007Leu) n.4168C>A | |
18 | g.45910641A>C | CA402340105 | EPG5 | n.2269T>G c.4085T>G (p.Phe1362Cys) c.3825T>G (n.3825T>G) n.864T>G c.710T>G (p.Phe237Cys) n.4120T>G c.4112T>G (p.Phe1371Cys) c.3971T>G (p.Phe1324Cys) c.3047T>G (p.Phe1016Cys) n.4185T>G c.3944T>G (p.Phe1315Cys) c.3020T>G (p.Phe1007Cys) n.4167T>G | |
18 | g.45910641A>G | CA402340106 | EPG5 | n.2269T>C c.4085T>C (p.Phe1362Ser) c.3825T>C (n.3825T>C) n.864T>C c.710T>C (p.Phe237Ser) n.4120T>C c.4112T>C (p.Phe1371Ser) c.3971T>C (p.Phe1324Ser) c.3047T>C (p.Phe1016Ser) n.4185T>C c.3944T>C (p.Phe1315Ser) c.3020T>C (p.Phe1007Ser) n.4167T>C | gnomAD v4 |
18 | g.45910641A>T | CA402340107 | EPG5 | n.2269T>A c.4085T>A (p.Phe1362Tyr) c.3825T>A (n.3825T>A) n.864T>A c.710T>A (p.Phe237Tyr) n.4120T>A c.4112T>A (p.Phe1371Tyr) c.3971T>A (p.Phe1324Tyr) c.3047T>A (p.Phe1016Tyr) n.4185T>A c.3944T>A (p.Phe1315Tyr) c.3020T>A (p.Phe1007Tyr) n.4167T>A | |
18 | g.45910642A>C | CA402340108 | EPG5 | n.2268T>G c.4084T>G (p.Phe1362Val) c.3824T>G (n.3824T>G) n.863T>G c.709T>G (p.Phe237Val) n.4119T>G c.4111T>G (p.Phe1371Val) c.3970T>G (p.Phe1324Val) c.3046T>G (p.Phe1016Val) n.4184T>G c.3943T>G (p.Phe1315Val) c.3019T>G (p.Phe1007Val) n.4166T>G | |
18 | g.45910642A>G | CA402340109 | EPG5 | n.2268T>C c.4084T>C (p.Phe1362Leu) c.3824T>C (n.3824T>C) n.863T>C c.709T>C (p.Phe237Leu) n.4119T>C c.4111T>C (p.Phe1371Leu) c.3970T>C (p.Phe1324Leu) c.3046T>C (p.Phe1016Leu) n.4184T>C c.3943T>C (p.Phe1315Leu) c.3019T>C (p.Phe1007Leu) n.4166T>C | |
18 | g.45910642A>T | CA402340110 | EPG5 | n.2268T>A c.4084T>A (p.Phe1362Ile) c.3824T>A (n.3824T>A) n.863T>A c.709T>A (p.Phe237Ile) n.4119T>A c.4111T>A (p.Phe1371Ile) c.3970T>A (p.Phe1324Ile) c.3046T>A (p.Phe1016Ile) n.4184T>A c.3943T>A (p.Phe1315Ile) c.3019T>A (p.Phe1007Ile) n.4166T>A | |
18 | g.45910643G>A | CA503793766 | EPG5 | n.2267C>T c.4083C>T (p.Asp1361=) c.3823C>T (n.3823C>T) n.862C>T c.708C>T (p.Asp236=) n.4118C>T c.4110C>T (p.Asp1370=) c.3969C>T (p.Asp1323=) c.3045C>T (p.Asp1015=) n.4183C>T c.3942C>T (p.Asp1314=) c.3018C>T (p.Asp1006=) n.4165C>T | gnomAD v4 |
18 | g.45910643G>C | CA402340111 | EPG5 | n.2267C>G c.4083C>G (p.Asp1361Glu) c.3823C>G (n.3823C>G) n.862C>G c.708C>G (p.Asp236Glu) n.4118C>G c.4110C>G (p.Asp1370Glu) c.3969C>G (p.Asp1323Glu) c.3045C>G (p.Asp1015Glu) n.4183C>G c.3942C>G (p.Asp1314Glu) c.3018C>G (p.Asp1006Glu) n.4165C>G | ClinVar dbSNP |
18 | g.45910643G>T | CA402340112 | EPG5 | n.2267C>A c.4083C>A (p.Asp1361Glu) c.3823C>A (n.3823C>A) n.862C>A c.708C>A (p.Asp236Glu) n.4118C>A c.4110C>A (p.Asp1370Glu) c.3969C>A (p.Asp1323Glu) c.3045C>A (p.Asp1015Glu) n.4183C>A c.3942C>A (p.Asp1314Glu) c.3018C>A (p.Asp1006Glu) n.4165C>A | |
18 | g.45910644T>A | CA402340113 | EPG5 | n.2266A>T c.4082A>T (p.Asp1361Val) c.3822A>T (n.3822A>T) n.861A>T c.707A>T (p.Asp236Val) n.4117A>T c.4109A>T (p.Asp1370Val) c.3968A>T (p.Asp1323Val) c.3044A>T (p.Asp1015Val) n.4182A>T c.3941A>T (p.Asp1314Val) c.3017A>T (p.Asp1006Val) n.4164A>T | |
18 | g.45910644T>C | CA402340114 | EPG5 | n.2266A>G c.4082A>G (p.Asp1361Gly) c.3822A>G (n.3822A>G) n.861A>G c.707A>G (p.Asp236Gly) n.4117A>G c.4109A>G (p.Asp1370Gly) c.3968A>G (p.Asp1323Gly) c.3044A>G (p.Asp1015Gly) n.4182A>G c.3941A>G (p.Asp1314Gly) c.3017A>G (p.Asp1006Gly) n.4164A>G | |
18 | g.45910644T>G | CA402340115 | EPG5 | n.2266A>C c.4082A>C (p.Asp1361Ala) c.3822A>C (n.3822A>C) n.861A>C c.707A>C (p.Asp236Ala) n.4117A>C c.4109A>C (p.Asp1370Ala) c.3968A>C (p.Asp1323Ala) c.3044A>C (p.Asp1015Ala) n.4182A>C c.3941A>C (p.Asp1314Ala) c.3017A>C (p.Asp1006Ala) n.4164A>C | |
18 | g.45910645C>A | CA402340118 | EPG5 | n.2265G>T c.4081G>T (p.Asp1361Tyr) c.3821G>T (n.3821G>T) n.860G>T c.706G>T (p.Asp236Tyr) n.4116G>T c.4108G>T (p.Asp1370Tyr) c.3967G>T (p.Asp1323Tyr) c.3043G>T (p.Asp1015Tyr) n.4181G>T c.3940G>T (p.Asp1314Tyr) c.3016G>T (p.Asp1006Tyr) n.4163G>T | |
18 | g.45910645C= | CA2300590892 | EPG5 | n.2265G= c.4081G= (p.Asp1361=) c.3821G= (n.3821G=) n.860G= c.706G= (p.Asp236=) n.4116G= c.4108G= (p.Asp1370=) c.3967G= (p.Asp1323=) c.3043G= (p.Asp1015=) n.4181G= c.3940G= (p.Asp1314=) c.3016G= (p.Asp1006=) n.4163G= | |
18 | g.45910645C>G | CA402340117 | EPG5 | n.2265G>C c.4081G>C (p.Asp1361His) c.3821G>C (n.3821G>C) n.860G>C c.706G>C (p.Asp236His) n.4116G>C c.4108G>C (p.Asp1370His) c.3967G>C (p.Asp1323His) c.3043G>C (p.Asp1015His) n.4181G>C c.3940G>C (p.Asp1314His) c.3016G>C (p.Asp1006His) n.4163G>C | dbSNP gnomAD v2 gnomAD v4 |
18 | g.45910645C>T | CA402340116 | EPG5 | n.2265G>A c.4081G>A (p.Asp1361Asn) c.3821G>A (n.3821G>A) n.860G>A c.706G>A (p.Asp236Asn) n.4116G>A c.4108G>A (p.Asp1370Asn) c.3967G>A (p.Asp1323Asn) c.3043G>A (p.Asp1015Asn) n.4181G>A c.3940G>A (p.Asp1314Asn) c.3016G>A (p.Asp1006Asn) n.4163G>A | |
18 | g.45910646A= | CA2300590893 | EPG5 | n.2264T= c.4080T= (p.Ala1360=) c.3820T= (n.3820T=) n.859T= c.705T= (p.Ala235=) n.4115T= c.4107T= (p.Ala1369=) c.3966T= (p.Ala1322=) c.3042T= (p.Ala1014=) n.4180T= c.3939T= (p.Ala1313=) c.3015T= (p.Ala1005=) n.4162T= | |
18 | g.45910646A>C | CA503793770 | EPG5 | n.2264T>G c.4080T>G (p.Ala1360=) c.3820T>G (n.3820T>G) n.859T>G c.705T>G (p.Ala235=) n.4115T>G c.4107T>G (p.Ala1369=) c.3966T>G (p.Ala1322=) c.3042T>G (p.Ala1014=) n.4180T>G c.3939T>G (p.Ala1313=) c.3015T>G (p.Ala1005=) n.4162T>G | gnomAD v4 |
18 | g.45910646A>G | CA8948986 | EPG5 | n.2264T>C c.4080T>C (p.Ala1360=) c.3820T>C (n.3820T>C) n.859T>C c.705T>C (p.Ala235=) n.4115T>C c.4107T>C (p.Ala1369=) c.3966T>C (p.Ala1322=) c.3042T>C (p.Ala1014=) n.4180T>C c.3939T>C (p.Ala1313=) c.3015T>C (p.Ala1005=) n.4162T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910646A>T | CA503793771 | EPG5 | n.2264T>A c.4080T>A (p.Ala1360=) c.3820T>A (n.3820T>A) n.859T>A c.705T>A (p.Ala235=) n.4115T>A c.4107T>A (p.Ala1369=) c.3966T>A (p.Ala1322=) c.3042T>A (p.Ala1014=) n.4180T>A c.3939T>A (p.Ala1313=) c.3015T>A (p.Ala1005=) n.4162T>A | |
18 | g.45910647G>A | CA402340119 | EPG5 | n.2263C>T c.4079C>T (p.Ala1360Val) c.3819C>T (n.3819C>T) n.858C>T c.704C>T (p.Ala235Val) n.4114C>T c.4106C>T (p.Ala1369Val) c.3965C>T (p.Ala1322Val) c.3041C>T (p.Ala1014Val) n.4179C>T c.3938C>T (p.Ala1313Val) c.3014C>T (p.Ala1005Val) n.4161C>T | gnomAD v4 |
18 | g.45910647G>C | CA402340120 | EPG5 | n.2263C>G c.4079C>G (p.Ala1360Gly) c.3819C>G (n.3819C>G) n.858C>G c.704C>G (p.Ala235Gly) n.4114C>G c.4106C>G (p.Ala1369Gly) c.3965C>G (p.Ala1322Gly) c.3041C>G (p.Ala1014Gly) n.4179C>G c.3938C>G (p.Ala1313Gly) c.3014C>G (p.Ala1005Gly) n.4161C>G | |
18 | g.45910647G>T | CA402340121 | EPG5 | n.2263C>A c.4079C>A (p.Ala1360Asp) c.3819C>A (n.3819C>A) n.858C>A c.704C>A (p.Ala235Asp) n.4114C>A c.4106C>A (p.Ala1369Asp) c.3965C>A (p.Ala1322Asp) c.3041C>A (p.Ala1014Asp) n.4179C>A c.3938C>A (p.Ala1313Asp) c.3014C>A (p.Ala1005Asp) n.4161C>A | gnomAD v4 |
18 | g.45910648C>A | CA402340122 | EPG5 | n.2262G>T c.4078G>T (p.Ala1360Ser) c.3818G>T (n.3818G>T) n.857G>T c.703G>T (p.Ala235Ser) n.4113G>T c.4105G>T (p.Ala1369Ser) c.3964G>T (p.Ala1322Ser) c.3040G>T (p.Ala1014Ser) n.4178G>T c.3937G>T (p.Ala1313Ser) c.3013G>T (p.Ala1005Ser) n.4160G>T | |
18 | g.45910648C= | CA2300590894 | EPG5 | n.2262G= c.4078G= (p.Ala1360=) c.3818G= (n.3818G=) n.857G= c.703G= (p.Ala235=) n.4113G= c.4105G= (p.Ala1369=) c.3964G= (p.Ala1322=) c.3040G= (p.Ala1014=) n.4178G= c.3937G= (p.Ala1313=) c.3013G= (p.Ala1005=) n.4160G= | |
18 | g.45910648C>G | CA402340123 | EPG5 | n.2262G>C c.4078G>C (p.Ala1360Pro) c.3818G>C (n.3818G>C) n.857G>C c.703G>C (p.Ala235Pro) n.4113G>C c.4105G>C (p.Ala1369Pro) c.3964G>C (p.Ala1322Pro) c.3040G>C (p.Ala1014Pro) n.4178G>C c.3937G>C (p.Ala1313Pro) c.3013G>C (p.Ala1005Pro) n.4160G>C | |
18 | g.45910648C>T | CA402340124 | EPG5 | n.2262G>A c.4078G>A (p.Ala1360Thr) c.3818G>A (n.3818G>A) n.857G>A c.703G>A (p.Ala235Thr) n.4113G>A c.4105G>A (p.Ala1369Thr) c.3964G>A (p.Ala1322Thr) c.3040G>A (p.Ala1014Thr) n.4178G>A c.3937G>A (p.Ala1313Thr) c.3013G>A (p.Ala1005Thr) n.4160G>A | dbSNP gnomAD v4 |
18 | g.45910649C>A | CA503793772 | EPG5 | n.2261G>T c.4077G>T (p.Val1359=) c.3817G>T (n.3817G>T) n.856G>T c.702G>T (p.Val234=) n.4112G>T c.4104G>T (p.Val1368=) c.3963G>T (p.Val1321=) c.3039G>T (p.Val1013=) n.4177G>T c.3936G>T (p.Val1312=) c.3012G>T (p.Val1004=) n.4159G>T | |
18 | g.45910649C>G | CA503793774 | EPG5 | n.2261G>C c.4077G>C (p.Val1359=) c.3817G>C (n.3817G>C) n.856G>C c.702G>C (p.Val234=) n.4112G>C c.4104G>C (p.Val1368=) c.3963G>C (p.Val1321=) c.3039G>C (p.Val1013=) n.4177G>C c.3936G>C (p.Val1312=) c.3012G>C (p.Val1004=) n.4159G>C | |
18 | g.45910649C>T | CA503793776 | EPG5 | n.2261G>A c.4077G>A (p.Val1359=) c.3817G>A (n.3817G>A) n.856G>A c.702G>A (p.Val234=) n.4112G>A c.4104G>A (p.Val1368=) c.3963G>A (p.Val1321=) c.3039G>A (p.Val1013=) n.4177G>A c.3936G>A (p.Val1312=) c.3012G>A (p.Val1004=) n.4159G>A | |
18 | g.45910650A>C | CA402340127 | EPG5 | n.2260T>G c.4076T>G (p.Val1359Gly) c.3816T>G (n.3816T>G) n.855T>G c.701T>G (p.Val234Gly) n.4111T>G c.4103T>G (p.Val1368Gly) c.3962T>G (p.Val1321Gly) c.3038T>G (p.Val1013Gly) n.4176T>G c.3935T>G (p.Val1312Gly) c.3011T>G (p.Val1004Gly) n.4158T>G | |
18 | g.45910650A>G | CA402340126 | EPG5 | n.2260T>C c.4076T>C (p.Val1359Ala) c.3816T>C (n.3816T>C) n.855T>C c.701T>C (p.Val234Ala) n.4111T>C c.4103T>C (p.Val1368Ala) c.3962T>C (p.Val1321Ala) c.3038T>C (p.Val1013Ala) n.4176T>C c.3935T>C (p.Val1312Ala) c.3011T>C (p.Val1004Ala) n.4158T>C | |
18 | g.45910650A>T | CA402340125 | EPG5 | n.2260T>A c.4076T>A (p.Val1359Glu) c.3816T>A (n.3816T>A) n.855T>A c.701T>A (p.Val234Glu) n.4111T>A c.4103T>A (p.Val1368Glu) c.3962T>A (p.Val1321Glu) c.3038T>A (p.Val1013Glu) n.4176T>A c.3935T>A (p.Val1312Glu) c.3011T>A (p.Val1004Glu) n.4158T>A | |
18 | g.45910651C>A | CA402340128 | EPG5 | n.2259G>T c.4075G>T (p.Val1359Leu) c.3815G>T (n.3815G>T) n.854G>T c.700G>T (p.Val234Leu) n.4110G>T c.4102G>T (p.Val1368Leu) c.3961G>T (p.Val1321Leu) c.3037G>T (p.Val1013Leu) n.4175G>T c.3934G>T (p.Val1312Leu) c.3010G>T (p.Val1004Leu) n.4157G>T | |
18 | g.45910651C>G | CA402340129 | EPG5 | n.2259G>C c.4075G>C (p.Val1359Leu) c.3815G>C (n.3815G>C) n.854G>C c.700G>C (p.Val234Leu) n.4110G>C c.4102G>C (p.Val1368Leu) c.3961G>C (p.Val1321Leu) c.3037G>C (p.Val1013Leu) n.4175G>C c.3934G>C (p.Val1312Leu) c.3010G>C (p.Val1004Leu) n.4157G>C | gnomAD v4 |
18 | g.45910651C>T | CA402340130 | EPG5 | n.2259G>A c.4075G>A (p.Val1359Met) c.3815G>A (n.3815G>A) n.854G>A c.700G>A (p.Val234Met) n.4110G>A c.4102G>A (p.Val1368Met) c.3961G>A (p.Val1321Met) c.3037G>A (p.Val1013Met) n.4175G>A c.3934G>A (p.Val1312Met) c.3010G>A (p.Val1004Met) n.4157G>A | gnomAD v4 |
18 | g.45910652dup | CA2839231044 | EPG5 | n.2259dup c.4075dup (p.Val1359GlyfsTer3) c.3815dup (n.3815dup) n.854dup c.700dup (p.Val234GlyfsTer3) n.4110dup c.4102dup (p.Val1368GlyfsTer3) c.3961dup (p.Val1321GlyfsTer3) c.3037dup (p.Val1013GlyfsTer3) n.4175dup c.3934dup (p.Val1312GlyfsTer3) c.3010dup (p.Val1004GlyfsTer3) n.4157dup | |
18 | g.45910652C>A | CA402340131 | EPG5 | n.2258G>T c.4074G>T (p.Glu1358Asp) c.3814G>T (n.3814G>T) n.853G>T c.699G>T (p.Glu233Asp) n.4109G>T c.4101G>T (p.Glu1367Asp) c.3960G>T (p.Glu1320Asp) c.3036G>T (p.Glu1012Asp) n.4174G>T c.3933G>T (p.Glu1311Asp) c.3009G>T (p.Glu1003Asp) n.4156G>T | |
18 | g.45910652C= | CA2300590895 | EPG5 | n.2258G= c.4074G= (p.Glu1358=) c.3814G= (n.3814G=) n.853G= c.699G= (p.Glu233=) n.4109G= c.4101G= (p.Glu1367=) c.3960G= (p.Glu1320=) c.3036G= (p.Glu1012=) n.4174G= c.3933G= (p.Glu1311=) c.3009G= (p.Glu1003=) n.4156G= | |
18 | g.45910652C>G | CA402340132 | EPG5 | n.2258G>C c.4074G>C (p.Glu1358Asp) c.3814G>C (n.3814G>C) n.853G>C c.699G>C (p.Glu233Asp) n.4109G>C c.4101G>C (p.Glu1367Asp) c.3960G>C (p.Glu1320Asp) c.3036G>C (p.Glu1012Asp) n.4174G>C c.3933G>C (p.Glu1311Asp) c.3009G>C (p.Glu1003Asp) n.4156G>C | gnomAD v4 |
18 | g.45910652C>T | CA8948987 | EPG5 | n.2258G>A c.4074G>A (p.Glu1358=) c.3814G>A (n.3814G>A) n.853G>A c.699G>A (p.Glu233=) n.4109G>A c.4101G>A (p.Glu1367=) c.3960G>A (p.Glu1320=) c.3036G>A (p.Glu1012=) n.4174G>A c.3933G>A (p.Glu1311=) c.3009G>A (p.Glu1003=) n.4156G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910653T>A | CA402340133 | EPG5 | n.2257A>T c.4073A>T (p.Glu1358Val) c.3813A>T (n.3813A>T) n.852A>T c.698A>T (p.Glu233Val) n.4108A>T c.4100A>T (p.Glu1367Val) c.3959A>T (p.Glu1320Val) c.3035A>T (p.Glu1012Val) n.4173A>T c.3932A>T (p.Glu1311Val) c.3008A>T (p.Glu1003Val) n.4155A>T | |
18 | g.45910653T>C | CA402340135 | EPG5 | n.2257A>G c.4073A>G (p.Glu1358Gly) c.3813A>G (n.3813A>G) n.852A>G c.698A>G (p.Glu233Gly) n.4108A>G c.4100A>G (p.Glu1367Gly) c.3959A>G (p.Glu1320Gly) c.3035A>G (p.Glu1012Gly) n.4173A>G c.3932A>G (p.Glu1311Gly) c.3008A>G (p.Glu1003Gly) n.4155A>G | |
18 | g.45910653T>G | CA402340134 | EPG5 | n.2257A>C c.4073A>C (p.Glu1358Ala) c.3813A>C (n.3813A>C) n.852A>C c.698A>C (p.Glu233Ala) n.4108A>C c.4100A>C (p.Glu1367Ala) c.3959A>C (p.Glu1320Ala) c.3035A>C (p.Glu1012Ala) n.4173A>C c.3932A>C (p.Glu1311Ala) c.3008A>C (p.Glu1003Ala) n.4155A>C | |
18 | g.45910654del | CA2641629290 | EPG5 | n.2256del c.4072del (p.Glu1358ArgfsTer?) c.3812del (n.3812del) n.851del c.697del (p.Glu233ArgfsTer?) n.4107del c.4099del (p.Glu1367ArgfsTer?) c.3958del (p.Glu1320ArgfsTer?) c.3034del (p.Glu1012ArgfsTer?) n.4172del c.3931del (p.Glu1311ArgfsTer?) c.3007del (p.Glu1003ArgfsTer?) n.4154del | gnomAD v4 |
18 | g.45910654C>A | CA402340136 | EPG5 | n.2256G>T c.4072G>T (p.Glu1358Ter) c.3812G>T (n.3812G>T) n.851G>T c.697G>T (p.Glu233Ter) n.4107G>T c.4099G>T (p.Glu1367Ter) c.3958G>T (p.Glu1320Ter) c.3034G>T (p.Glu1012Ter) n.4172G>T c.3931G>T (p.Glu1311Ter) c.3007G>T (p.Glu1003Ter) n.4154G>T | gnomAD v4 |
18 | g.45910654C= | CA2300590896 | EPG5 | n.2256G= c.4072G= (p.Glu1358=) c.3812G= (n.3812G=) n.851G= c.697G= (p.Glu233=) n.4107G= c.4099G= (p.Glu1367=) c.3958G= (p.Glu1320=) c.3034G= (p.Glu1012=) n.4172G= c.3931G= (p.Glu1311=) c.3007G= (p.Glu1003=) n.4154G= | |
18 | g.45910654C>G | CA8948988 | EPG5 | n.2256G>C c.4072G>C (p.Glu1358Gln) c.3812G>C (n.3812G>C) n.851G>C c.697G>C (p.Glu233Gln) n.4107G>C c.4099G>C (p.Glu1367Gln) c.3958G>C (p.Glu1320Gln) c.3034G>C (p.Glu1012Gln) n.4172G>C c.3931G>C (p.Glu1311Gln) c.3007G>C (p.Glu1003Gln) n.4154G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910654C>T | CA249026 | EPG5 | n.2256G>A c.4072G>A (p.Glu1358Lys) c.3812G>A (n.3812G>A) n.851G>A c.697G>A (p.Glu233Lys) n.4107G>A c.4099G>A (p.Glu1367Lys) c.3958G>A (p.Glu1320Lys) c.3034G>A (p.Glu1012Lys) n.4172G>A c.3931G>A (p.Glu1311Lys) c.3007G>A (p.Glu1003Lys) n.4154G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910655G>A | CA8948989 | EPG5 | n.2255C>T c.4071C>T (p.Thr1357=) c.3811C>T (n.3811C>T) n.850C>T c.696C>T (p.Thr232=) n.4106C>T c.4098C>T (p.Thr1366=) c.3957C>T (p.Thr1319=) c.3033C>T (p.Thr1011=) n.4171C>T c.3930C>T (p.Thr1310=) c.3006C>T (p.Thr1002=) n.4153C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910655G>C | CA503793780 | EPG5 | n.2255C>G c.4071C>G (p.Thr1357=) c.3811C>G (n.3811C>G) n.850C>G c.696C>G (p.Thr232=) n.4106C>G c.4098C>G (p.Thr1366=) c.3957C>G (p.Thr1319=) c.3033C>G (p.Thr1011=) n.4171C>G c.3930C>G (p.Thr1310=) c.3006C>G (p.Thr1002=) n.4153C>G | |
18 | g.45910655G= | CA2300590897 | EPG5 | n.2255C= c.4071C= (p.Thr1357=) c.3811C= (n.3811C=) n.850C= c.696C= (p.Thr232=) n.4106C= c.4098C= (p.Thr1366=) c.3957C= (p.Thr1319=) c.3033C= (p.Thr1011=) n.4171C= c.3930C= (p.Thr1310=) c.3006C= (p.Thr1002=) n.4153C= | |
18 | g.45910655G>T | CA503793781 | EPG5 | n.2255C>A c.4071C>A (p.Thr1357=) c.3811C>A (n.3811C>A) n.850C>A c.696C>A (p.Thr232=) n.4106C>A c.4098C>A (p.Thr1366=) c.3957C>A (p.Thr1319=) c.3033C>A (p.Thr1011=) n.4171C>A c.3930C>A (p.Thr1310=) c.3006C>A (p.Thr1002=) n.4153C>A | |
18 | g.45910656G>A | CA402340137 | EPG5 | n.2254C>T c.4070C>T (p.Thr1357Ile) c.3810C>T (n.3810C>T) n.849C>T c.695C>T (p.Thr232Ile) n.4105C>T c.4097C>T (p.Thr1366Ile) c.3956C>T (p.Thr1319Ile) c.3032C>T (p.Thr1011Ile) n.4170C>T c.3929C>T (p.Thr1310Ile) c.3005C>T (p.Thr1002Ile) n.4152C>T | |
18 | g.45910656G>C | CA402340138 | EPG5 | n.2254C>G c.4070C>G (p.Thr1357Ser) c.3810C>G (n.3810C>G) n.849C>G c.695C>G (p.Thr232Ser) n.4105C>G c.4097C>G (p.Thr1366Ser) c.3956C>G (p.Thr1319Ser) c.3032C>G (p.Thr1011Ser) n.4170C>G c.3929C>G (p.Thr1310Ser) c.3005C>G (p.Thr1002Ser) n.4152C>G | |
18 | g.45910656G>T | CA402340139 | EPG5 | n.2254C>A c.4070C>A (p.Thr1357Asn) c.3810C>A (n.3810C>A) n.849C>A c.695C>A (p.Thr232Asn) n.4105C>A c.4097C>A (p.Thr1366Asn) c.3956C>A (p.Thr1319Asn) c.3032C>A (p.Thr1011Asn) n.4170C>A c.3929C>A (p.Thr1310Asn) c.3005C>A (p.Thr1002Asn) n.4152C>A | |
18 | g.45910657T>A | CA402340140 | EPG5 | n.2253A>T c.4069A>T (p.Thr1357Ser) c.3809A>T (n.3809A>T) n.848A>T c.694A>T (p.Thr232Ser) n.4104A>T c.4096A>T (p.Thr1366Ser) c.3955A>T (p.Thr1319Ser) c.3031A>T (p.Thr1011Ser) n.4169A>T c.3928A>T (p.Thr1310Ser) c.3004A>T (p.Thr1002Ser) n.4151A>T | |
18 | g.45910657T>C | CA402340141 | EPG5 | n.2253A>G c.4069A>G (p.Thr1357Ala) c.3809A>G (n.3809A>G) n.848A>G c.694A>G (p.Thr232Ala) n.4104A>G c.4096A>G (p.Thr1366Ala) c.3955A>G (p.Thr1319Ala) c.3031A>G (p.Thr1011Ala) n.4169A>G c.3928A>G (p.Thr1310Ala) c.3004A>G (p.Thr1002Ala) n.4151A>G | |
18 | g.45910657T>G | CA299760449 | EPG5 | n.2253A>C c.4069A>C (p.Thr1357Pro) c.3809A>C (n.3809A>C) n.848A>C c.694A>C (p.Thr232Pro) n.4104A>C c.4096A>C (p.Thr1366Pro) c.3955A>C (p.Thr1319Pro) c.3031A>C (p.Thr1011Pro) n.4169A>C c.3928A>C (p.Thr1310Pro) c.3004A>C (p.Thr1002Pro) n.4151A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910657T= | CA2300590898 | EPG5 | n.2253A= c.4069A= (p.Thr1357=) c.3809A= (n.3809A=) n.848A= c.694A= (p.Thr232=) n.4104A= c.4096A= (p.Thr1366=) c.3955A= (p.Thr1319=) c.3031A= (p.Thr1011=) n.4169A= c.3928A= (p.Thr1310=) c.3004A= (p.Thr1002=) n.4151A= | |
18 | g.45910658C>A | CA402340142 | EPG5 | n.2252G>T c.4068G>T (p.Leu1356Phe) c.3808G>T (n.3808G>T) n.847G>T c.693G>T (p.Leu231Phe) n.4103G>T c.4095G>T (p.Leu1365Phe) c.3954G>T (p.Leu1318Phe) c.3030G>T (p.Leu1010Phe) n.4168G>T c.3927G>T (p.Leu1309Phe) c.3003G>T (p.Leu1001Phe) n.4150G>T | dbSNP gnomAD v4 COSMIC |
18 | g.45910658C= | CA2300590899 | EPG5 | n.2252G= c.4068G= (p.Leu1356=) c.3808G= (n.3808G=) n.847G= c.693G= (p.Leu231=) n.4103G= c.4095G= (p.Leu1365=) c.3954G= (p.Leu1318=) c.3030G= (p.Leu1010=) n.4168G= c.3927G= (p.Leu1309=) c.3003G= (p.Leu1001=) n.4150G= | |
18 | g.45910658C>G | CA402340143 | EPG5 | n.2252G>C c.4068G>C (p.Leu1356Phe) c.3808G>C (n.3808G>C) n.847G>C c.693G>C (p.Leu231Phe) n.4103G>C c.4095G>C (p.Leu1365Phe) c.3954G>C (p.Leu1318Phe) c.3030G>C (p.Leu1010Phe) n.4168G>C c.3927G>C (p.Leu1309Phe) c.3003G>C (p.Leu1001Phe) n.4150G>C | |
18 | g.45910658C>T | CA503793785 | EPG5 | n.2252G>A c.4068G>A (p.Leu1356=) c.3808G>A (n.3808G>A) n.847G>A c.693G>A (p.Leu231=) n.4103G>A c.4095G>A (p.Leu1365=) c.3954G>A (p.Leu1318=) c.3030G>A (p.Leu1010=) n.4168G>A c.3927G>A (p.Leu1309=) c.3003G>A (p.Leu1001=) n.4150G>A | gnomAD v4 |
18 | g.45910659A>C | CA402340144 | EPG5 | n.2251T>G c.4067T>G (p.Leu1356Trp) c.3807T>G (n.3807T>G) n.846T>G c.692T>G (p.Leu231Trp) n.4102T>G c.4094T>G (p.Leu1365Trp) c.3953T>G (p.Leu1318Trp) c.3029T>G (p.Leu1010Trp) n.4167T>G c.3926T>G (p.Leu1309Trp) c.3002T>G (p.Leu1001Trp) n.4149T>G | |
18 | g.45910659A>G | CA402340146 | EPG5 | n.2251T>C c.4067T>C (p.Leu1356Ser) c.3807T>C (n.3807T>C) n.846T>C c.692T>C (p.Leu231Ser) n.4102T>C c.4094T>C (p.Leu1365Ser) c.3953T>C (p.Leu1318Ser) c.3029T>C (p.Leu1010Ser) n.4167T>C c.3926T>C (p.Leu1309Ser) c.3002T>C (p.Leu1001Ser) n.4149T>C | |
18 | g.45910659A>T | CA402340145 | EPG5 | n.2251T>A c.4067T>A (p.Leu1356Ter) c.3807T>A (n.3807T>A) n.846T>A c.692T>A (p.Leu231Ter) n.4102T>A c.4094T>A (p.Leu1365Ter) c.3953T>A (p.Leu1318Ter) c.3029T>A (p.Leu1010Ter) n.4167T>A c.3926T>A (p.Leu1309Ter) c.3002T>A (p.Leu1001Ter) n.4149T>A | |
18 | g.45910660A= | CA2300590900 | EPG5 | n.2250T= c.4066T= (p.Leu1356=) c.3806T= (n.3806T=) n.845T= c.691T= (p.Leu231=) n.4101T= c.4093T= (p.Leu1365=) c.3952T= (p.Leu1318=) c.3028T= (p.Leu1010=) n.4166T= c.3925T= (p.Leu1309=) c.3001T= (p.Leu1001=) n.4148T= | |
18 | g.45910660A>C | CA402340147 | EPG5 | n.2250T>G c.4066T>G (p.Leu1356Val) c.3806T>G (n.3806T>G) n.845T>G c.691T>G (p.Leu231Val) n.4101T>G c.4093T>G (p.Leu1365Val) c.3952T>G (p.Leu1318Val) c.3028T>G (p.Leu1010Val) n.4166T>G c.3925T>G (p.Leu1309Val) c.3001T>G (p.Leu1001Val) n.4148T>G | gnomAD v4 |
18 | g.45910660A>G | CA503793788 | EPG5 | n.2250T>C c.4066T>C (p.Leu1356=) c.3806T>C (n.3806T>C) n.845T>C c.691T>C (p.Leu231=) n.4101T>C c.4093T>C (p.Leu1365=) c.3952T>C (p.Leu1318=) c.3028T>C (p.Leu1010=) n.4166T>C c.3925T>C (p.Leu1309=) c.3001T>C (p.Leu1001=) n.4148T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910660A>T | CA402340148 | EPG5 | n.2250T>A c.4066T>A (p.Leu1356Met) c.3806T>A (n.3806T>A) n.845T>A c.691T>A (p.Leu231Met) n.4101T>A c.4093T>A (p.Leu1365Met) c.3952T>A (p.Leu1318Met) c.3028T>A (p.Leu1010Met) n.4166T>A c.3925T>A (p.Leu1309Met) c.3001T>A (p.Leu1001Met) n.4148T>A | |
18 | g.45910661A>C | CA503793789 | EPG5 | n.2249T>G c.4065T>G (p.Arg1355=) c.3805T>G (n.3805T>G) n.844T>G c.690T>G (p.Arg230=) n.4100T>G c.4092T>G (p.Arg1364=) c.3951T>G (p.Arg1317=) c.3027T>G (p.Arg1009=) n.4165T>G c.3924T>G (p.Arg1308=) c.3000T>G (p.Arg1000=) n.4147T>G | |
18 | g.45910661A>G | CA503793790 | EPG5 | n.2249T>C c.4065T>C (p.Arg1355=) c.3805T>C (n.3805T>C) n.844T>C c.690T>C (p.Arg230=) n.4100T>C c.4092T>C (p.Arg1364=) c.3951T>C (p.Arg1317=) c.3027T>C (p.Arg1009=) n.4165T>C c.3924T>C (p.Arg1308=) c.3000T>C (p.Arg1000=) n.4147T>C | |
18 | g.45910661A>T | CA503793792 | EPG5 | n.2249T>A c.4065T>A (p.Arg1355=) c.3805T>A (n.3805T>A) n.844T>A c.690T>A (p.Arg230=) n.4100T>A c.4092T>A (p.Arg1364=) c.3951T>A (p.Arg1317=) c.3027T>A (p.Arg1009=) n.4165T>A c.3924T>A (p.Arg1308=) c.3000T>A (p.Arg1000=) n.4147T>A | |
18 | g.45910662C>A | CA402340149 | EPG5 | n.2248G>T c.4064G>T (p.Arg1355Leu) c.3804G>T (n.3804G>T) n.843G>T c.689G>T (p.Arg230Leu) n.4099G>T c.4091G>T (p.Arg1364Leu) c.3950G>T (p.Arg1317Leu) c.3026G>T (p.Arg1009Leu) n.4164G>T c.3923G>T (p.Arg1308Leu) c.2999G>T (p.Arg1000Leu) n.4146G>T | |
18 | g.45910662C= | CA2300590901 | EPG5 | n.2248G= c.4064G= (p.Arg1355=) c.3804G= (n.3804G=) n.843G= c.689G= (p.Arg230=) n.4099G= c.4091G= (p.Arg1364=) c.3950G= (p.Arg1317=) c.3026G= (p.Arg1009=) n.4164G= c.3923G= (p.Arg1308=) c.2999G= (p.Arg1000=) n.4146G= | |
18 | g.45910662C>G | CA402340150 | EPG5 | n.2248G>C c.4064G>C (p.Arg1355Pro) c.3804G>C (n.3804G>C) n.843G>C c.689G>C (p.Arg230Pro) n.4099G>C c.4091G>C (p.Arg1364Pro) c.3950G>C (p.Arg1317Pro) c.3026G>C (p.Arg1009Pro) n.4164G>C c.3923G>C (p.Arg1308Pro) c.2999G>C (p.Arg1000Pro) n.4146G>C | |
18 | g.45910662C>T | CA8948990 | EPG5 | n.2248G>A c.4064G>A (p.Arg1355His) c.3804G>A (n.3804G>A) n.843G>A c.689G>A (p.Arg230His) n.4099G>A c.4091G>A (p.Arg1364His) c.3950G>A (p.Arg1317His) c.3026G>A (p.Arg1009His) n.4164G>A c.3923G>A (p.Arg1308His) c.2999G>A (p.Arg1000His) n.4146G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910663G>A | CA402340151 | EPG5 | n.2247C>T c.4063C>T (p.Arg1355Cys) c.3803C>T (n.3803C>T) n.842C>T c.688C>T (p.Arg230Cys) n.4098C>T c.4090C>T (p.Arg1364Cys) c.3949C>T (p.Arg1317Cys) c.3025C>T (p.Arg1009Cys) n.4163C>T c.3922C>T (p.Arg1308Cys) c.2998C>T (p.Arg1000Cys) n.4145C>T | gnomAD v4 COSMIC |
18 | g.45910663G>C | CA402340152 | EPG5 | n.2247C>G c.4063C>G (p.Arg1355Gly) c.3803C>G (n.3803C>G) n.842C>G c.688C>G (p.Arg230Gly) n.4098C>G c.4090C>G (p.Arg1364Gly) c.3949C>G (p.Arg1317Gly) c.3025C>G (p.Arg1009Gly) n.4163C>G c.3922C>G (p.Arg1308Gly) c.2998C>G (p.Arg1000Gly) n.4145C>G | gnomAD v4 |
18 | g.45910663G>T | CA402340153 | EPG5 | n.2247C>A c.4063C>A (p.Arg1355Ser) c.3803C>A (n.3803C>A) n.842C>A c.688C>A (p.Arg230Ser) n.4098C>A c.4090C>A (p.Arg1364Ser) c.3949C>A (p.Arg1317Ser) c.3025C>A (p.Arg1009Ser) n.4163C>A c.3922C>A (p.Arg1308Ser) c.2998C>A (p.Arg1000Ser) n.4145C>A | |
18 | g.45910664T>A | CA402340154 | EPG5 | n.2246A>T c.4062A>T (p.Arg1354Ser) c.3802A>T (n.3802A>T) n.841A>T c.687A>T (p.Arg229Ser) n.4097A>T c.4089A>T (p.Arg1363Ser) c.3948A>T (p.Arg1316Ser) c.3024A>T (p.Arg1008Ser) n.4162A>T c.3921A>T (p.Arg1307Ser) c.2997A>T (p.Arg999Ser) n.4144A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910664T>C | CA8948991 | EPG5 | n.2246A>G c.4062A>G (p.Arg1354=) c.3802A>G (n.3802A>G) n.841A>G c.687A>G (p.Arg229=) n.4097A>G c.4089A>G (p.Arg1363=) c.3948A>G (p.Arg1316=) c.3024A>G (p.Arg1008=) n.4162A>G c.3921A>G (p.Arg1307=) c.2997A>G (p.Arg999=) n.4144A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910664T>G | CA402340155 | EPG5 | n.2246A>C c.4062A>C (p.Arg1354Ser) c.3802A>C (n.3802A>C) n.841A>C c.687A>C (p.Arg229Ser) n.4097A>C c.4089A>C (p.Arg1363Ser) c.3948A>C (p.Arg1316Ser) c.3024A>C (p.Arg1008Ser) n.4162A>C c.3921A>C (p.Arg1307Ser) c.2997A>C (p.Arg999Ser) n.4144A>C | |
18 | g.45910664T= | CA2300590902 | EPG5 | n.2246A= c.4062A= (p.Arg1354=) c.3802A= (n.3802A=) n.841A= c.687A= (p.Arg229=) n.4097A= c.4089A= (p.Arg1363=) c.3948A= (p.Arg1316=) c.3024A= (p.Arg1008=) n.4162A= c.3921A= (p.Arg1307=) c.2997A= (p.Arg999=) n.4144A= | |
18 | g.45910665C>A | CA402340158 | EPG5 | n.2245G>T c.4061G>T (p.Arg1354Ile) c.3801G>T (n.3801G>T) n.840G>T c.686G>T (p.Arg229Ile) n.4096G>T c.4088G>T (p.Arg1363Ile) c.3947G>T (p.Arg1316Ile) c.3023G>T (p.Arg1008Ile) n.4161G>T c.3920G>T (p.Arg1307Ile) c.2996G>T (p.Arg999Ile) n.4143G>T | |
18 | g.45910665C>G | CA402340157 | EPG5 | n.2245G>C c.4061G>C (p.Arg1354Thr) c.3801G>C (n.3801G>C) n.840G>C c.686G>C (p.Arg229Thr) n.4096G>C c.4088G>C (p.Arg1363Thr) c.3947G>C (p.Arg1316Thr) c.3023G>C (p.Arg1008Thr) n.4161G>C c.3920G>C (p.Arg1307Thr) c.2996G>C (p.Arg999Thr) n.4143G>C | gnomAD v4 |
18 | g.45910665C>T | CA402340156 | EPG5 | n.2245G>A c.4061G>A (p.Arg1354Lys) c.3801G>A (n.3801G>A) n.840G>A c.686G>A (p.Arg229Lys) n.4096G>A c.4088G>A (p.Arg1363Lys) c.3947G>A (p.Arg1316Lys) c.3023G>A (p.Arg1008Lys) n.4161G>A c.3920G>A (p.Arg1307Lys) c.2996G>A (p.Arg999Lys) n.4143G>A | |
18 | g.45910666T>A | CA402340159 | EPG5 | n.2244A>T c.4060A>T (p.Arg1354Ter) c.3800A>T (n.3800A>T) n.839A>T c.685A>T (p.Arg229Ter) n.4095A>T c.4087A>T (p.Arg1363Ter) c.3946A>T (p.Arg1316Ter) c.3022A>T (p.Arg1008Ter) n.4160A>T c.3919A>T (p.Arg1307Ter) c.2995A>T (p.Arg999Ter) n.4142A>T | |
18 | g.45910666T>C | CA402340160 | EPG5 | n.2244A>G c.4060A>G (p.Arg1354Gly) c.3800A>G (n.3800A>G) n.839A>G c.685A>G (p.Arg229Gly) n.4095A>G c.4087A>G (p.Arg1363Gly) c.3946A>G (p.Arg1316Gly) c.3022A>G (p.Arg1008Gly) n.4160A>G c.3919A>G (p.Arg1307Gly) c.2995A>G (p.Arg999Gly) n.4142A>G | gnomAD v4 |
18 | g.45910666T>G | CA503793795 | EPG5 | n.2244A>C c.4060A>C (p.Arg1354=) c.3800A>C (n.3800A>C) n.839A>C c.685A>C (p.Arg229=) n.4095A>C c.4087A>C (p.Arg1363=) c.3946A>C (p.Arg1316=) c.3022A>C (p.Arg1008=) n.4160A>C c.3919A>C (p.Arg1307=) c.2995A>C (p.Arg999=) n.4142A>C | |
18 | g.45910667C>A | CA402340161 | EPG5 | n.2243G>T c.4059G>T (p.Lys1353Asn) c.3799G>T (n.3799G>T) n.838G>T c.684G>T (p.Lys228Asn) n.4094G>T c.4086G>T (p.Lys1362Asn) c.3945G>T (p.Lys1315Asn) c.3021G>T (p.Lys1007Asn) n.4159G>T c.3918G>T (p.Lys1306Asn) c.2994G>T (p.Lys998Asn) n.4141G>T | |
18 | g.45910667C>G | CA402340162 | EPG5 | n.2243G>C c.4059G>C (p.Lys1353Asn) c.3799G>C (n.3799G>C) n.838G>C c.684G>C (p.Lys228Asn) n.4094G>C c.4086G>C (p.Lys1362Asn) c.3945G>C (p.Lys1315Asn) c.3021G>C (p.Lys1007Asn) n.4159G>C c.3918G>C (p.Lys1306Asn) c.2994G>C (p.Lys998Asn) n.4141G>C | |
18 | g.45910667C>T | CA503793798 | EPG5 | n.2243G>A c.4059G>A (p.Lys1353=) c.3799G>A (n.3799G>A) n.838G>A c.684G>A (p.Lys228=) n.4094G>A c.4086G>A (p.Lys1362=) c.3945G>A (p.Lys1315=) c.3021G>A (p.Lys1007=) n.4159G>A c.3918G>A (p.Lys1306=) c.2994G>A (p.Lys998=) n.4141G>A | |
18 | g.45910668T>A | CA402340163 | EPG5 | n.2242A>T c.4058A>T (p.Lys1353Met) c.3798A>T (n.3798A>T) n.837A>T c.683A>T (p.Lys228Met) n.4093A>T c.4085A>T (p.Lys1362Met) c.3944A>T (p.Lys1315Met) c.3020A>T (p.Lys1007Met) n.4158A>T c.3917A>T (p.Lys1306Met) c.2993A>T (p.Lys998Met) n.4140A>T | |
18 | g.45910668T>C | CA8948992 | EPG5 | n.2242A>G c.4058A>G (p.Lys1353Arg) c.3798A>G (n.3798A>G) n.837A>G c.683A>G (p.Lys228Arg) n.4093A>G c.4085A>G (p.Lys1362Arg) c.3944A>G (p.Lys1315Arg) c.3020A>G (p.Lys1007Arg) n.4158A>G c.3917A>G (p.Lys1306Arg) c.2993A>G (p.Lys998Arg) n.4140A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910668T>G | CA402340164 | EPG5 | n.2242A>C c.4058A>C (p.Lys1353Thr) c.3798A>C (n.3798A>C) n.837A>C c.683A>C (p.Lys228Thr) n.4093A>C c.4085A>C (p.Lys1362Thr) c.3944A>C (p.Lys1315Thr) c.3020A>C (p.Lys1007Thr) n.4158A>C c.3917A>C (p.Lys1306Thr) c.2993A>C (p.Lys998Thr) n.4140A>C | gnomAD v4 |
18 | g.45910668T= | CA2300590903 | EPG5 | n.2242A= c.4058A= (p.Lys1353=) c.3798A= (n.3798A=) n.837A= c.683A= (p.Lys228=) n.4093A= c.4085A= (p.Lys1362=) c.3944A= (p.Lys1315=) c.3020A= (p.Lys1007=) n.4158A= c.3917A= (p.Lys1306=) c.2993A= (p.Lys998=) n.4140A= | |
18 | g.45910669T>A | CA402340165 | EPG5 | n.2241A>T c.4057A>T (p.Lys1353Ter) c.3797A>T (n.3797A>T) n.836A>T c.682A>T (p.Lys228Ter) n.4092A>T c.4084A>T (p.Lys1362Ter) c.3943A>T (p.Lys1315Ter) c.3019A>T (p.Lys1007Ter) n.4157A>T c.3916A>T (p.Lys1306Ter) c.2992A>T (p.Lys998Ter) n.4139A>T | |
18 | g.45910669T>C | CA402340166 | EPG5 | n.2241A>G c.4057A>G (p.Lys1353Glu) c.3797A>G (n.3797A>G) n.836A>G c.682A>G (p.Lys228Glu) n.4092A>G c.4084A>G (p.Lys1362Glu) c.3943A>G (p.Lys1315Glu) c.3019A>G (p.Lys1007Glu) n.4157A>G c.3916A>G (p.Lys1306Glu) c.2992A>G (p.Lys998Glu) n.4139A>G | |
18 | g.45910669T>G | CA402340167 | EPG5 | n.2241A>C c.4057A>C (p.Lys1353Gln) c.3797A>C (n.3797A>C) n.836A>C c.682A>C (p.Lys228Gln) n.4092A>C c.4084A>C (p.Lys1362Gln) c.3943A>C (p.Lys1315Gln) c.3019A>C (p.Lys1007Gln) n.4157A>C c.3916A>C (p.Lys1306Gln) c.2992A>C (p.Lys998Gln) n.4139A>C | gnomAD v4 |
18 | g.45910670C>A | CA402340168 | EPG5 | n.2240G>T c.4056G>T (p.Met1352Ile) c.3796G>T (n.3796G>T) n.835G>T c.681G>T (p.Met227Ile) n.4091G>T c.4083G>T (p.Met1361Ile) c.3942G>T (p.Met1314Ile) c.3018G>T (p.Met1006Ile) n.4156G>T c.3915G>T (p.Met1305Ile) c.2991G>T (p.Met997Ile) n.4138G>T | gnomAD v4 |
18 | g.45910670C>G | CA402340169 | EPG5 | n.2240G>C c.4056G>C (p.Met1352Ile) c.3796G>C (n.3796G>C) n.835G>C c.681G>C (p.Met227Ile) n.4091G>C c.4083G>C (p.Met1361Ile) c.3942G>C (p.Met1314Ile) c.3018G>C (p.Met1006Ile) n.4156G>C c.3915G>C (p.Met1305Ile) c.2991G>C (p.Met997Ile) n.4138G>C | |
18 | g.45910670C>T | CA402340170 | EPG5 | n.2240G>A c.4056G>A (p.Met1352Ile) c.3796G>A (n.3796G>A) n.835G>A c.681G>A (p.Met227Ile) n.4091G>A c.4083G>A (p.Met1361Ile) c.3942G>A (p.Met1314Ile) c.3018G>A (p.Met1006Ile) n.4156G>A c.3915G>A (p.Met1305Ile) c.2991G>A (p.Met997Ile) n.4138G>A | gnomAD v4 |
18 | g.45910671A= | CA2300590904 | EPG5 | n.2239T= c.4055T= (p.Met1352=) c.3795T= (n.3795T=) n.834T= c.680T= (p.Met227=) n.4090T= c.4082T= (p.Met1361=) c.3941T= (p.Met1314=) c.3017T= (p.Met1006=) n.4155T= c.3914T= (p.Met1305=) c.2990T= (p.Met997=) n.4137T= | |
18 | g.45910671A>C | CA402340172 | EPG5 | n.2239T>G c.4055T>G (p.Met1352Arg) c.3795T>G (n.3795T>G) n.834T>G c.680T>G (p.Met227Arg) n.4090T>G c.4082T>G (p.Met1361Arg) c.3941T>G (p.Met1314Arg) c.3017T>G (p.Met1006Arg) n.4155T>G c.3914T>G (p.Met1305Arg) c.2990T>G (p.Met997Arg) n.4137T>G | |
18 | g.45910671A>G | CA402340173 | EPG5 | n.2239T>C c.4055T>C (p.Met1352Thr) c.3795T>C (n.3795T>C) n.834T>C c.680T>C (p.Met227Thr) n.4090T>C c.4082T>C (p.Met1361Thr) c.3941T>C (p.Met1314Thr) c.3017T>C (p.Met1006Thr) n.4155T>C c.3914T>C (p.Met1305Thr) c.2990T>C (p.Met997Thr) n.4137T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910671A>T | CA402340171 | EPG5 | n.2239T>A c.4055T>A (p.Met1352Lys) c.3795T>A (n.3795T>A) n.834T>A c.680T>A (p.Met227Lys) n.4090T>A c.4082T>A (p.Met1361Lys) c.3941T>A (p.Met1314Lys) c.3017T>A (p.Met1006Lys) n.4155T>A c.3914T>A (p.Met1305Lys) c.2990T>A (p.Met997Lys) n.4137T>A | |
18 | g.45910672T>A | CA402340174 | EPG5 | n.2238A>T c.4054A>T (p.Met1352Leu) c.3794A>T (n.3794A>T) n.833A>T c.679A>T (p.Met227Leu) n.4089A>T c.4081A>T (p.Met1361Leu) c.3940A>T (p.Met1314Leu) c.3016A>T (p.Met1006Leu) n.4154A>T c.3913A>T (p.Met1305Leu) c.2989A>T (p.Met997Leu) n.4136A>T | |
18 | g.45910672T>C | CA402340176 | EPG5 | n.2238A>G c.4054A>G (p.Met1352Val) c.3794A>G (n.3794A>G) n.833A>G c.679A>G (p.Met227Val) n.4089A>G c.4081A>G (p.Met1361Val) c.3940A>G (p.Met1314Val) c.3016A>G (p.Met1006Val) n.4154A>G c.3913A>G (p.Met1305Val) c.2989A>G (p.Met997Val) n.4136A>G | dbSNP gnomAD v3 gnomAD v4 |
18 | g.45910672T>G | CA402340175 | EPG5 | n.2238A>C c.4054A>C (p.Met1352Leu) c.3794A>C (n.3794A>C) n.833A>C c.679A>C (p.Met227Leu) n.4089A>C c.4081A>C (p.Met1361Leu) c.3940A>C (p.Met1314Leu) c.3016A>C (p.Met1006Leu) n.4154A>C c.3913A>C (p.Met1305Leu) c.2989A>C (p.Met997Leu) n.4136A>C | |
18 | g.45910672T= | CA2300590905 | EPG5 | n.2238A= c.4054A= (p.Met1352=) c.3794A= (n.3794A=) n.833A= c.679A= (p.Met227=) n.4089A= c.4081A= (p.Met1361=) c.3940A= (p.Met1314=) c.3016A= (p.Met1006=) n.4154A= c.3913A= (p.Met1305=) c.2989A= (p.Met997=) n.4136A= | |
18 | g.45910673T>A | CA402340177 | EPG5 | n.2237A>T c.4053A>T (p.Glu1351Asp) c.3793A>T (n.3793A>T) n.832A>T c.678A>T (p.Glu226Asp) n.4088A>T c.4080A>T (p.Glu1360Asp) c.3939A>T (p.Glu1313Asp) c.3015A>T (p.Glu1005Asp) n.4153A>T c.3912A>T (p.Glu1304Asp) c.2988A>T (p.Glu996Asp) n.4135A>T | |
18 | g.45910673T>C | CA503793804 | EPG5 | n.2237A>G c.4053A>G (p.Glu1351=) c.3793A>G (n.3793A>G) n.832A>G c.678A>G (p.Glu226=) n.4088A>G c.4080A>G (p.Glu1360=) c.3939A>G (p.Glu1313=) c.3015A>G (p.Glu1005=) n.4153A>G c.3912A>G (p.Glu1304=) c.2988A>G (p.Glu996=) n.4135A>G | dbSNP gnomAD v3 gnomAD v4 |
18 | g.45910673T>G | CA402340178 | EPG5 | n.2237A>C c.4053A>C (p.Glu1351Asp) c.3793A>C (n.3793A>C) n.832A>C c.678A>C (p.Glu226Asp) n.4088A>C c.4080A>C (p.Glu1360Asp) c.3939A>C (p.Glu1313Asp) c.3015A>C (p.Glu1005Asp) n.4153A>C c.3912A>C (p.Glu1304Asp) c.2988A>C (p.Glu996Asp) n.4135A>C | |
18 | g.45910673T= | CA2300590906 | EPG5 | n.2237A= c.4053A= (p.Glu1351=) c.3793A= (n.3793A=) n.832A= c.678A= (p.Glu226=) n.4088A= c.4080A= (p.Glu1360=) c.3939A= (p.Glu1313=) c.3015A= (p.Glu1005=) n.4153A= c.3912A= (p.Glu1304=) c.2988A= (p.Glu996=) n.4135A= | |
18 | g.45910674T>A | CA402340179 | EPG5 | n.2236A>T c.4052A>T (p.Glu1351Val) c.3792A>T (n.3792A>T) n.831A>T c.677A>T (p.Glu226Val) n.4087A>T c.4079A>T (p.Glu1360Val) c.3938A>T (p.Glu1313Val) c.3014A>T (p.Glu1005Val) n.4152A>T c.3911A>T (p.Glu1304Val) c.2987A>T (p.Glu996Val) n.4134A>T | |
18 | g.45910674T>C | CA402340180 | EPG5 | n.2236A>G c.4052A>G (p.Glu1351Gly) c.3792A>G (n.3792A>G) n.831A>G c.677A>G (p.Glu226Gly) n.4087A>G c.4079A>G (p.Glu1360Gly) c.3938A>G (p.Glu1313Gly) c.3014A>G (p.Glu1005Gly) n.4152A>G c.3911A>G (p.Glu1304Gly) c.2987A>G (p.Glu996Gly) n.4134A>G | |
18 | g.45910674T>G | CA402340181 | EPG5 | n.2236A>C c.4052A>C (p.Glu1351Ala) c.3792A>C (n.3792A>C) n.831A>C c.677A>C (p.Glu226Ala) n.4087A>C c.4079A>C (p.Glu1360Ala) c.3938A>C (p.Glu1313Ala) c.3014A>C (p.Glu1005Ala) n.4152A>C c.3911A>C (p.Glu1304Ala) c.2987A>C (p.Glu996Ala) n.4134A>C | |
18 | g.45910675C>A | CA402340182 | EPG5 | n.2235G>T c.4051G>T (p.Glu1351Ter) c.3791G>T (n.3791G>T) n.830G>T c.676G>T (p.Glu226Ter) n.4086G>T c.4078G>T (p.Glu1360Ter) c.3937G>T (p.Glu1313Ter) c.3013G>T (p.Glu1005Ter) n.4151G>T c.3910G>T (p.Glu1304Ter) c.2986G>T (p.Glu996Ter) n.4133G>T | ClinVar |
18 | g.45910675C>G | CA402340183 | EPG5 | n.2235G>C c.4051G>C (p.Glu1351Gln) c.3791G>C (n.3791G>C) n.830G>C c.676G>C (p.Glu226Gln) n.4086G>C c.4078G>C (p.Glu1360Gln) c.3937G>C (p.Glu1313Gln) c.3013G>C (p.Glu1005Gln) n.4151G>C c.3910G>C (p.Glu1304Gln) c.2986G>C (p.Glu996Gln) n.4133G>C | |
18 | g.45910675C>T | CA402340184 | EPG5 | n.2235G>A c.4051G>A (p.Glu1351Lys) c.3791G>A (n.3791G>A) n.830G>A c.676G>A (p.Glu226Lys) n.4086G>A c.4078G>A (p.Glu1360Lys) c.3937G>A (p.Glu1313Lys) c.3013G>A (p.Glu1005Lys) n.4151G>A c.3910G>A (p.Glu1304Lys) c.2986G>A (p.Glu996Lys) n.4133G>A | |
18 | g.45910676T>A | CA402340185 | EPG5 | n.2234A>T c.4050A>T (p.Lys1350Asn) c.3790A>T (n.3790A>T) n.829A>T c.675A>T (p.Lys225Asn) n.4085A>T c.4077A>T (p.Lys1359Asn) c.3936A>T (p.Lys1312Asn) c.3012A>T (p.Lys1004Asn) n.4150A>T c.3909A>T (p.Lys1303Asn) c.2985A>T (p.Lys995Asn) n.4132A>T | |
18 | g.45910676T>C | CA503793807 | EPG5 | n.2234A>G c.4050A>G (p.Lys1350=) c.3790A>G (n.3790A>G) n.829A>G c.675A>G (p.Lys225=) n.4085A>G c.4077A>G (p.Lys1359=) c.3936A>G (p.Lys1312=) c.3012A>G (p.Lys1004=) n.4150A>G c.3909A>G (p.Lys1303=) c.2985A>G (p.Lys995=) n.4132A>G | gnomAD v4 |
18 | g.45910676T>G | CA402340186 | EPG5 | n.2234A>C c.4050A>C (p.Lys1350Asn) c.3790A>C (n.3790A>C) n.829A>C c.675A>C (p.Lys225Asn) n.4085A>C c.4077A>C (p.Lys1359Asn) c.3936A>C (p.Lys1312Asn) c.3012A>C (p.Lys1004Asn) n.4150A>C c.3909A>C (p.Lys1303Asn) c.2985A>C (p.Lys995Asn) n.4132A>C | |
18 | g.45910677T>A | CA402340187 | EPG5 | n.2233A>T c.4049A>T (p.Lys1350Ile) c.3789A>T (n.3789A>T) n.828A>T c.674A>T (p.Lys225Ile) n.4084A>T c.4076A>T (p.Lys1359Ile) c.3935A>T (p.Lys1312Ile) c.3011A>T (p.Lys1004Ile) n.4149A>T c.3908A>T (p.Lys1303Ile) c.2984A>T (p.Lys995Ile) n.4131A>T | |
18 | g.45910677T>C | CA402340188 | EPG5 | n.2233A>G c.4049A>G (p.Lys1350Arg) c.3789A>G (n.3789A>G) n.828A>G c.674A>G (p.Lys225Arg) n.4084A>G c.4076A>G (p.Lys1359Arg) c.3935A>G (p.Lys1312Arg) c.3011A>G (p.Lys1004Arg) n.4149A>G c.3908A>G (p.Lys1303Arg) c.2984A>G (p.Lys995Arg) n.4131A>G | |
18 | g.45910677T>G | CA402340189 | EPG5 | n.2233A>C c.4049A>C (p.Lys1350Thr) c.3789A>C (n.3789A>C) n.828A>C c.674A>C (p.Lys225Thr) n.4084A>C c.4076A>C (p.Lys1359Thr) c.3935A>C (p.Lys1312Thr) c.3011A>C (p.Lys1004Thr) n.4149A>C c.3908A>C (p.Lys1303Thr) c.2984A>C (p.Lys995Thr) n.4131A>C | |
18 | g.45910678T>A | CA402340192 | EPG5 | n.2232A>T c.4048A>T (p.Lys1350Ter) c.3788A>T (n.3788A>T) n.827A>T c.673A>T (p.Lys225Ter) n.4083A>T c.4075A>T (p.Lys1359Ter) c.3934A>T (p.Lys1312Ter) c.3010A>T (p.Lys1004Ter) n.4148A>T c.3907A>T (p.Lys1303Ter) c.2983A>T (p.Lys995Ter) n.4130A>T | |
18 | g.45910678T>C | CA402340190 | EPG5 | n.2232A>G c.4048A>G (p.Lys1350Glu) c.3788A>G (n.3788A>G) n.827A>G c.673A>G (p.Lys225Glu) n.4083A>G c.4075A>G (p.Lys1359Glu) c.3934A>G (p.Lys1312Glu) c.3010A>G (p.Lys1004Glu) n.4148A>G c.3907A>G (p.Lys1303Glu) c.2983A>G (p.Lys995Glu) n.4130A>G | |
18 | g.45910678T>G | CA402340191 | EPG5 | n.2232A>C c.4048A>C (p.Lys1350Gln) c.3788A>C (n.3788A>C) n.827A>C c.673A>C (p.Lys225Gln) n.4083A>C c.4075A>C (p.Lys1359Gln) c.3934A>C (p.Lys1312Gln) c.3010A>C (p.Lys1004Gln) n.4148A>C c.3907A>C (p.Lys1303Gln) c.2983A>C (p.Lys995Gln) n.4130A>C | |
18 | g.45910679C>A | CA402340193 | EPG5 | n.2231G>T c.4047G>T (p.Leu1349Phe) c.3787G>T (n.3787G>T) n.826G>T c.672G>T (p.Leu224Phe) n.4082G>T c.4074G>T (p.Leu1358Phe) c.3933G>T (p.Leu1311Phe) c.3009G>T (p.Leu1003Phe) n.4147G>T c.3906G>T (p.Leu1302Phe) c.2982G>T (p.Leu994Phe) n.4129G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.45910679C= | CA2300590907 | EPG5 | n.2231G= c.4047G= (p.Leu1349=) c.3787G= (n.3787G=) n.826G= c.672G= (p.Leu224=) n.4082G= c.4074G= (p.Leu1358=) c.3933G= (p.Leu1311=) c.3009G= (p.Leu1003=) n.4147G= c.3906G= (p.Leu1302=) c.2982G= (p.Leu994=) n.4129G= | |
18 | g.45910679C>G | CA402340194 | EPG5 | n.2231G>C c.4047G>C (p.Leu1349Phe) c.3787G>C (n.3787G>C) n.826G>C c.672G>C (p.Leu224Phe) n.4082G>C c.4074G>C (p.Leu1358Phe) c.3933G>C (p.Leu1311Phe) c.3009G>C (p.Leu1003Phe) n.4147G>C c.3906G>C (p.Leu1302Phe) c.2982G>C (p.Leu994Phe) n.4129G>C | |
18 | g.45910679C>T | CA503793809 | EPG5 | n.2231G>A c.4047G>A (p.Leu1349=) c.3787G>A (n.3787G>A) n.826G>A c.672G>A (p.Leu224=) n.4082G>A c.4074G>A (p.Leu1358=) c.3933G>A (p.Leu1311=) c.3009G>A (p.Leu1003=) n.4147G>A c.3906G>A (p.Leu1302=) c.2982G>A (p.Leu994=) n.4129G>A | |
18 | g.45910680A>C | CA402340195 | EPG5 | n.2230T>G c.4046T>G (p.Leu1349Trp) c.3786T>G (n.3786T>G) n.825T>G c.671T>G (p.Leu224Trp) n.4081T>G c.4073T>G (p.Leu1358Trp) c.3932T>G (p.Leu1311Trp) c.3008T>G (p.Leu1003Trp) n.4146T>G c.3905T>G (p.Leu1302Trp) c.2981T>G (p.Leu994Trp) n.4128T>G | |
18 | g.45910680A>G | CA402340196 | EPG5 | n.2230T>C c.4046T>C (p.Leu1349Ser) c.3786T>C (n.3786T>C) n.825T>C c.671T>C (p.Leu224Ser) n.4081T>C c.4073T>C (p.Leu1358Ser) c.3932T>C (p.Leu1311Ser) c.3008T>C (p.Leu1003Ser) n.4146T>C c.3905T>C (p.Leu1302Ser) c.2981T>C (p.Leu994Ser) n.4128T>C | gnomAD v4 |
18 | g.45910680A>T | CA402340197 | EPG5 | n.2230T>A c.4046T>A (p.Leu1349Ter) c.3786T>A (n.3786T>A) n.825T>A c.671T>A (p.Leu224Ter) n.4081T>A c.4073T>A (p.Leu1358Ter) c.3932T>A (p.Leu1311Ter) c.3008T>A (p.Leu1003Ter) n.4146T>A c.3905T>A (p.Leu1302Ter) c.2981T>A (p.Leu994Ter) n.4128T>A | |
18 | g.45910681A= | CA2300590908 | EPG5 | n.2229T= c.4045T= (p.Leu1349=) c.3785T= (n.3785T=) n.824T= c.670T= (p.Leu224=) n.4080T= c.4072T= (p.Leu1358=) c.3931T= (p.Leu1311=) c.3007T= (p.Leu1003=) n.4145T= c.3904T= (p.Leu1302=) c.2980T= (p.Leu994=) n.4127T= | |
18 | g.45910681A>C | CA402340198 | EPG5 | n.2229T>G c.4045T>G (p.Leu1349Val) c.3785T>G (n.3785T>G) n.824T>G c.670T>G (p.Leu224Val) n.4080T>G c.4072T>G (p.Leu1358Val) c.3931T>G (p.Leu1311Val) c.3007T>G (p.Leu1003Val) n.4145T>G c.3904T>G (p.Leu1302Val) c.2980T>G (p.Leu994Val) n.4127T>G | |
18 | g.45910681A>G | CA503793811 | EPG5 | n.2229T>C c.4045T>C (p.Leu1349=) c.3785T>C (n.3785T>C) n.824T>C c.670T>C (p.Leu224=) n.4080T>C c.4072T>C (p.Leu1358=) c.3931T>C (p.Leu1311=) c.3007T>C (p.Leu1003=) n.4145T>C c.3904T>C (p.Leu1302=) c.2980T>C (p.Leu994=) n.4127T>C | ClinVar dbSNP gnomAD v4 COSMIC |
18 | g.45910681A>T | CA402340199 | EPG5 | n.2229T>A c.4045T>A (p.Leu1349Met) c.3785T>A (n.3785T>A) n.824T>A c.670T>A (p.Leu224Met) n.4080T>A c.4072T>A (p.Leu1358Met) c.3931T>A (p.Leu1311Met) c.3007T>A (p.Leu1003Met) n.4145T>A c.3904T>A (p.Leu1302Met) c.2980T>A (p.Leu994Met) n.4127T>A | |
18 | g.45910682C>A | CA402340200 | EPG5 | n.2228G>T c.4044G>T (p.Leu1348Phe) c.3784G>T (n.3784G>T) n.823G>T c.669G>T (p.Leu223Phe) n.4079G>T c.4071G>T (p.Leu1357Phe) c.3930G>T (p.Leu1310Phe) c.3006G>T (p.Leu1002Phe) n.4144G>T c.3903G>T (p.Leu1301Phe) c.2979G>T (p.Leu993Phe) n.4126G>T | |
18 | g.45910682C>G | CA402340201 | EPG5 | n.2228G>C c.4044G>C (p.Leu1348Phe) c.3784G>C (n.3784G>C) n.823G>C c.669G>C (p.Leu223Phe) n.4079G>C c.4071G>C (p.Leu1357Phe) c.3930G>C (p.Leu1310Phe) c.3006G>C (p.Leu1002Phe) n.4144G>C c.3903G>C (p.Leu1301Phe) c.2979G>C (p.Leu993Phe) n.4126G>C | |
18 | g.45910682C>T | CA503793812 | EPG5 | n.2228G>A c.4044G>A (p.Leu1348=) c.3784G>A (n.3784G>A) n.823G>A c.669G>A (p.Leu223=) n.4079G>A c.4071G>A (p.Leu1357=) c.3930G>A (p.Leu1310=) c.3006G>A (p.Leu1002=) n.4144G>A c.3903G>A (p.Leu1301=) c.2979G>A (p.Leu993=) n.4126G>A | |
18 | g.45910683A>C | CA402340202 | EPG5 | n.2227T>G c.4043T>G (p.Leu1348Trp) c.3783T>G (n.3783T>G) n.822T>G c.668T>G (p.Leu223Trp) n.4078T>G c.4070T>G (p.Leu1357Trp) c.3929T>G (p.Leu1310Trp) c.3005T>G (p.Leu1002Trp) n.4143T>G c.3902T>G (p.Leu1301Trp) c.2978T>G (p.Leu993Trp) n.4125T>G | |
18 | g.45910683A>G | CA402340203 | EPG5 | n.2227T>C c.4043T>C (p.Leu1348Ser) c.3783T>C (n.3783T>C) n.822T>C c.668T>C (p.Leu223Ser) n.4078T>C c.4070T>C (p.Leu1357Ser) c.3929T>C (p.Leu1310Ser) c.3005T>C (p.Leu1002Ser) n.4143T>C c.3902T>C (p.Leu1301Ser) c.2978T>C (p.Leu993Ser) n.4125T>C | |
18 | g.45910683A>T | CA402340204 | EPG5 | n.2227T>A c.4043T>A (p.Leu1348Ter) c.3783T>A (n.3783T>A) n.822T>A c.668T>A (p.Leu223Ter) n.4078T>A c.4070T>A (p.Leu1357Ter) c.3929T>A (p.Leu1310Ter) c.3005T>A (p.Leu1002Ter) n.4143T>A c.3902T>A (p.Leu1301Ter) c.2978T>A (p.Leu993Ter) n.4125T>A | |
18 | g.45910684A>C | CA402340205 | EPG5 | n.2226T>G c.4042T>G (p.Leu1348Val) c.3782T>G (n.3782T>G) n.821T>G c.667T>G (p.Leu223Val) n.4077T>G c.4069T>G (p.Leu1357Val) c.3928T>G (p.Leu1310Val) c.3004T>G (p.Leu1002Val) n.4142T>G c.3901T>G (p.Leu1301Val) c.2977T>G (p.Leu993Val) n.4124T>G | |
18 | g.45910684A>G | CA503793815 | EPG5 | n.2226T>C c.4042T>C (p.Leu1348=) c.3782T>C (n.3782T>C) n.821T>C c.667T>C (p.Leu223=) n.4077T>C c.4069T>C (p.Leu1357=) c.3928T>C (p.Leu1310=) c.3004T>C (p.Leu1002=) n.4142T>C c.3901T>C (p.Leu1301=) c.2977T>C (p.Leu993=) n.4124T>C | |
18 | g.45910684A>T | CA402340206 | EPG5 | n.2226T>A c.4042T>A (p.Leu1348Met) c.3782T>A (n.3782T>A) n.821T>A c.667T>A (p.Leu223Met) n.4077T>A c.4069T>A (p.Leu1357Met) c.3928T>A (p.Leu1310Met) c.3004T>A (p.Leu1002Met) n.4142T>A c.3901T>A (p.Leu1301Met) c.2977T>A (p.Leu993Met) n.4124T>A | |
18 | g.45910685A>C | CA402340207 | EPG5 | n.2225T>G c.4041T>G (p.Asn1347Lys) c.3781T>G (n.3781T>G) n.820T>G c.666T>G (p.Asn222Lys) n.4076T>G c.4068T>G (p.Asn1356Lys) c.3927T>G (p.Asn1309Lys) c.3003T>G (p.Asn1001Lys) n.4141T>G c.3900T>G (p.Asn1300Lys) c.2976T>G (p.Asn992Lys) n.4123T>G | |
18 | g.45910685A>G | CA503793817 | EPG5 | n.2225T>C c.4041T>C (p.Asn1347=) c.3781T>C (n.3781T>C) n.820T>C c.666T>C (p.Asn222=) n.4076T>C c.4068T>C (p.Asn1356=) c.3927T>C (p.Asn1309=) c.3003T>C (p.Asn1001=) n.4141T>C c.3900T>C (p.Asn1300=) c.2976T>C (p.Asn992=) n.4123T>C | |
18 | g.45910685A>T | CA402340208 | EPG5 | n.2225T>A c.4041T>A (p.Asn1347Lys) c.3781T>A (n.3781T>A) n.820T>A c.666T>A (p.Asn222Lys) n.4076T>A c.4068T>A (p.Asn1356Lys) c.3927T>A (p.Asn1309Lys) c.3003T>A (p.Asn1001Lys) n.4141T>A c.3900T>A (p.Asn1300Lys) c.2976T>A (p.Asn992Lys) n.4123T>A | |
18 | g.45910686T>A | CA402340209 | EPG5 | n.2224A>T c.4040A>T (p.Asn1347Ile) c.3780A>T (n.3780A>T) n.819A>T c.665A>T (p.Asn222Ile) n.4075A>T c.4067A>T (p.Asn1356Ile) c.3926A>T (p.Asn1309Ile) c.3002A>T (p.Asn1001Ile) n.4140A>T c.3899A>T (p.Asn1300Ile) c.2975A>T (p.Asn992Ile) n.4122A>T | |
18 | g.45910686T>C | CA8948993 | EPG5 | n.2224A>G c.4040A>G (p.Asn1347Ser) c.3780A>G (n.3780A>G) n.819A>G c.665A>G (p.Asn222Ser) n.4075A>G c.4067A>G (p.Asn1356Ser) c.3926A>G (p.Asn1309Ser) c.3002A>G (p.Asn1001Ser) n.4140A>G c.3899A>G (p.Asn1300Ser) c.2975A>G (p.Asn992Ser) n.4122A>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
18 | g.45910686T>G | CA402340210 | EPG5 | n.2224A>C c.4040A>C (p.Asn1347Thr) c.3780A>C (n.3780A>C) n.819A>C c.665A>C (p.Asn222Thr) n.4075A>C c.4067A>C (p.Asn1356Thr) c.3926A>C (p.Asn1309Thr) c.3002A>C (p.Asn1001Thr) n.4140A>C c.3899A>C (p.Asn1300Thr) c.2975A>C (p.Asn992Thr) n.4122A>C | |
18 | g.45910686T= | CA2300590909 | EPG5 | n.2224A= c.4040A= (p.Asn1347=) c.3780A= (n.3780A=) n.819A= c.665A= (p.Asn222=) n.4075A= c.4067A= (p.Asn1356=) c.3926A= (p.Asn1309=) c.3002A= (p.Asn1001=) n.4140A= c.3899A= (p.Asn1300=) c.2975A= (p.Asn992=) n.4122A= | |
18 | g.45910687T>A | CA402340211 | EPG5 | n.2223A>T c.4039A>T (p.Asn1347Tyr) c.3779A>T (n.3779A>T) n.818A>T c.664A>T (p.Asn222Tyr) n.4074A>T c.4066A>T (p.Asn1356Tyr) c.3925A>T (p.Asn1309Tyr) c.3001A>T (p.Asn1001Tyr) n.4139A>T c.3898A>T (p.Asn1300Tyr) c.2974A>T (p.Asn992Tyr) n.4121A>T | |
18 | g.45910687T>C | CA402340212 | EPG5 | n.2223A>G c.4039A>G (p.Asn1347Asp) c.3779A>G (n.3779A>G) n.818A>G c.664A>G (p.Asn222Asp) n.4074A>G c.4066A>G (p.Asn1356Asp) c.3925A>G (p.Asn1309Asp) c.3001A>G (p.Asn1001Asp) n.4139A>G c.3898A>G (p.Asn1300Asp) c.2974A>G (p.Asn992Asp) n.4121A>G | |
18 | g.45910687T>G | CA358108 | EPG5 | n.2223A>C c.4039A>C (p.Asn1347His) c.3779A>C (n.3779A>C) n.818A>C c.664A>C (p.Asn222His) n.4074A>C c.4066A>C (p.Asn1356His) c.3925A>C (p.Asn1309His) c.3001A>C (p.Asn1001His) n.4139A>C c.3898A>C (p.Asn1300His) c.2974A>C (p.Asn992His) n.4121A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910687T= | CA2300590910 | EPG5 | n.2223A= c.4039A= (p.Asn1347=) c.3779A= (n.3779A=) n.818A= c.664A= (p.Asn222=) n.4074A= c.4066A= (p.Asn1356=) c.3925A= (p.Asn1309=) c.3001A= (p.Asn1001=) n.4139A= c.3898A= (p.Asn1300=) c.2974A= (p.Asn992=) n.4121A= | |
18 | g.45910688G>A | CA503793818 | EPG5 | n.2222C>T c.4038C>T (p.Ile1346=) c.3778C>T (n.3778C>T) n.817C>T c.663C>T (p.Ile221=) n.4073C>T c.4065C>T (p.Ile1355=) c.3924C>T (p.Ile1308=) c.3000C>T (p.Ile1000=) n.4138C>T c.3897C>T (p.Ile1299=) c.2973C>T (p.Ile991=) n.4120C>T | |
18 | g.45910688G>C | CA402340213 | EPG5 | n.2222C>G c.4038C>G (p.Ile1346Met) c.3778C>G (n.3778C>G) n.817C>G c.663C>G (p.Ile221Met) n.4073C>G c.4065C>G (p.Ile1355Met) c.3924C>G (p.Ile1308Met) c.3000C>G (p.Ile1000Met) n.4138C>G c.3897C>G (p.Ile1299Met) c.2973C>G (p.Ile991Met) n.4120C>G | |
18 | g.45910688G>T | CA503793820 | EPG5 | n.2222C>A c.4038C>A (p.Ile1346=) c.3778C>A (n.3778C>A) n.817C>A c.663C>A (p.Ile221=) n.4073C>A c.4065C>A (p.Ile1355=) c.3924C>A (p.Ile1308=) c.3000C>A (p.Ile1000=) n.4138C>A c.3897C>A (p.Ile1299=) c.2973C>A (p.Ile991=) n.4120C>A | gnomAD v4 |
18 | g.45910689A= | CA2300590911 | EPG5 | n.2221T= c.4037T= (p.Ile1346=) c.3777T= (n.3777T=) n.816T= c.662T= (p.Ile221=) n.4072T= c.4064T= (p.Ile1355=) c.3923T= (p.Ile1308=) c.2999T= (p.Ile1000=) n.4137T= c.3896T= (p.Ile1299=) c.2972T= (p.Ile991=) n.4119T= | |
18 | g.45910689A>C | CA402340214 | EPG5 | n.2221T>G c.4037T>G (p.Ile1346Ser) c.3777T>G (n.3777T>G) n.816T>G c.662T>G (p.Ile221Ser) n.4072T>G c.4064T>G (p.Ile1355Ser) c.3923T>G (p.Ile1308Ser) c.2999T>G (p.Ile1000Ser) n.4137T>G c.3896T>G (p.Ile1299Ser) c.2972T>G (p.Ile991Ser) n.4119T>G | |
18 | g.45910689A>G | CA8948995 | EPG5 | n.2221T>C c.4037T>C (p.Ile1346Thr) c.3777T>C (n.3777T>C) n.816T>C c.662T>C (p.Ile221Thr) n.4072T>C c.4064T>C (p.Ile1355Thr) c.3923T>C (p.Ile1308Thr) c.2999T>C (p.Ile1000Thr) n.4137T>C c.3896T>C (p.Ile1299Thr) c.2972T>C (p.Ile991Thr) n.4119T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910689A>T | CA8948994 | EPG5 | n.2221T>A c.4037T>A (p.Ile1346Asn) c.3777T>A (n.3777T>A) n.816T>A c.662T>A (p.Ile221Asn) n.4072T>A c.4064T>A (p.Ile1355Asn) c.3923T>A (p.Ile1308Asn) c.2999T>A (p.Ile1000Asn) n.4137T>A c.3896T>A (p.Ile1299Asn) c.2972T>A (p.Ile991Asn) n.4119T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910690T>A | CA402340215 | EPG5 | n.2220A>T c.4036A>T (p.Ile1346Phe) c.3776A>T (n.3776A>T) n.815A>T c.661A>T (p.Ile221Phe) n.4071A>T c.4063A>T (p.Ile1355Phe) c.3922A>T (p.Ile1308Phe) c.2998A>T (p.Ile1000Phe) n.4136A>T c.3895A>T (p.Ile1299Phe) c.2971A>T (p.Ile991Phe) n.4118A>T | |
18 | g.45910690T>C | CA402340216 | EPG5 | n.2220A>G c.4036A>G (p.Ile1346Val) c.3776A>G (n.3776A>G) n.815A>G c.661A>G (p.Ile221Val) n.4071A>G c.4063A>G (p.Ile1355Val) c.3922A>G (p.Ile1308Val) c.2998A>G (p.Ile1000Val) n.4136A>G c.3895A>G (p.Ile1299Val) c.2971A>G (p.Ile991Val) n.4118A>G | gnomAD v4 |
18 | g.45910690T>G | CA402340217 | EPG5 | n.2220A>C c.4036A>C (p.Ile1346Leu) c.3776A>C (n.3776A>C) n.815A>C c.661A>C (p.Ile221Leu) n.4071A>C c.4063A>C (p.Ile1355Leu) c.3922A>C (p.Ile1308Leu) c.2998A>C (p.Ile1000Leu) n.4136A>C c.3895A>C (p.Ile1299Leu) c.2971A>C (p.Ile991Leu) n.4118A>C | |
18 | g.45910691A= | CA2300590912 | EPG5 | n.2219T= c.4035T= (p.His1345=) c.3775T= (n.3775T=) n.814T= c.660T= (p.His220=) n.4070T= c.4062T= (p.His1354=) c.3921T= (p.His1307=) c.2997T= (p.His999=) n.4135T= c.3894T= (p.His1298=) c.2970T= (p.His990=) n.4117T= | |
18 | g.45910691A>C | CA402340218 | EPG5 | n.2219T>G c.4035T>G (p.His1345Gln) c.3775T>G (n.3775T>G) n.814T>G c.660T>G (p.His220Gln) n.4070T>G c.4062T>G (p.His1354Gln) c.3921T>G (p.His1307Gln) c.2997T>G (p.His999Gln) n.4135T>G c.3894T>G (p.His1298Gln) c.2970T>G (p.His990Gln) n.4117T>G | |
18 | g.45910691A>G | CA503793822 | EPG5 | n.2219T>C c.4035T>C (p.His1345=) c.3775T>C (n.3775T>C) n.814T>C c.660T>C (p.His220=) n.4070T>C c.4062T>C (p.His1354=) c.3921T>C (p.His1307=) c.2997T>C (p.His999=) n.4135T>C c.3894T>C (p.His1298=) c.2970T>C (p.His990=) n.4117T>C | dbSNP |
18 | g.45910691A>T | CA402340219 | EPG5 | n.2219T>A c.4035T>A (p.His1345Gln) c.3775T>A (n.3775T>A) n.814T>A c.660T>A (p.His220Gln) n.4070T>A c.4062T>A (p.His1354Gln) c.3921T>A (p.His1307Gln) c.2997T>A (p.His999Gln) n.4135T>A c.3894T>A (p.His1298Gln) c.2970T>A (p.His990Gln) n.4117T>A | |
18 | g.45910692T>A | CA402340220 | EPG5 | n.2218A>T c.4034A>T (p.His1345Leu) c.3774A>T (n.3774A>T) n.813A>T c.659A>T (p.His220Leu) n.4069A>T c.4061A>T (p.His1354Leu) c.3920A>T (p.His1307Leu) c.2996A>T (p.His999Leu) n.4134A>T c.3893A>T (p.His1298Leu) c.2969A>T (p.His990Leu) n.4116A>T | |
18 | g.45910692T>C | CA8948996 | EPG5 | n.2218A>G c.4034A>G (p.His1345Arg) c.3774A>G (n.3774A>G) n.813A>G c.659A>G (p.His220Arg) n.4069A>G c.4061A>G (p.His1354Arg) c.3920A>G (p.His1307Arg) c.2996A>G (p.His999Arg) n.4134A>G c.3893A>G (p.His1298Arg) c.2969A>G (p.His990Arg) n.4116A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910692T>G | CA402340221 | EPG5 | n.2218A>C c.4034A>C (p.His1345Pro) c.3774A>C (n.3774A>C) n.813A>C c.659A>C (p.His220Pro) n.4069A>C c.4061A>C (p.His1354Pro) c.3920A>C (p.His1307Pro) c.2996A>C (p.His999Pro) n.4134A>C c.3893A>C (p.His1298Pro) c.2969A>C (p.His990Pro) n.4116A>C | gnomAD v4 |
18 | g.45910692T= | CA2300590913 | EPG5 | n.2218A= c.4034A= (p.His1345=) c.3774A= (n.3774A=) n.813A= c.659A= (p.His220=) n.4069A= c.4061A= (p.His1354=) c.3920A= (p.His1307=) c.2996A= (p.His999=) n.4134A= c.3893A= (p.His1298=) c.2969A= (p.His990=) n.4116A= | |
18 | g.45910693G>A | CA402340222 | EPG5 | n.2217C>T c.4033C>T (p.His1345Tyr) c.3773C>T (n.3773C>T) n.812C>T c.658C>T (p.His220Tyr) n.4068C>T c.4060C>T (p.His1354Tyr) c.3919C>T (p.His1307Tyr) c.2995C>T (p.His999Tyr) n.4133C>T c.3892C>T (p.His1298Tyr) c.2968C>T (p.His990Tyr) n.4115C>T | |
18 | g.45910693G>C | CA402340223 | EPG5 | n.2217C>G c.4033C>G (p.His1345Asp) c.3773C>G (n.3773C>G) n.812C>G c.658C>G (p.His220Asp) n.4068C>G c.4060C>G (p.His1354Asp) c.3919C>G (p.His1307Asp) c.2995C>G (p.His999Asp) n.4133C>G c.3892C>G (p.His1298Asp) c.2968C>G (p.His990Asp) n.4115C>G | |
18 | g.45910693G= | CA2300590914 | EPG5 | n.2217C= c.4033C= (p.His1345=) c.3773C= (n.3773C=) n.812C= c.658C= (p.His220=) n.4068C= c.4060C= (p.His1354=) c.3919C= (p.His1307=) c.2995C= (p.His999=) n.4133C= c.3892C= (p.His1298=) c.2968C= (p.His990=) n.4115C= | |
18 | g.45910693G>T | CA402340224 | EPG5 | n.2217C>A c.4033C>A (p.His1345Asn) c.3773C>A (n.3773C>A) n.812C>A c.658C>A (p.His220Asn) n.4068C>A c.4060C>A (p.His1354Asn) c.3919C>A (p.His1307Asn) c.2995C>A (p.His999Asn) n.4133C>A c.3892C>A (p.His1298Asn) c.2968C>A (p.His990Asn) n.4115C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910694A>C | CA503793824 | EPG5 | n.2216T>G c.4032T>G (p.Ala1344=) c.3772T>G (n.3772T>G) n.811T>G c.657T>G (p.Ala219=) n.4067T>G c.4059T>G (p.Ala1353=) c.3918T>G (p.Ala1306=) c.2994T>G (p.Ala998=) n.4132T>G c.3891T>G (p.Ala1297=) c.2967T>G (p.Ala989=) n.4114T>G | |
18 | g.45910694A>G | CA503793825 | EPG5 | n.2216T>C c.4032T>C (p.Ala1344=) c.3772T>C (n.3772T>C) n.811T>C c.657T>C (p.Ala219=) n.4067T>C c.4059T>C (p.Ala1353=) c.3918T>C (p.Ala1306=) c.2994T>C (p.Ala998=) n.4132T>C c.3891T>C (p.Ala1297=) c.2967T>C (p.Ala989=) n.4114T>C | |
18 | g.45910694A>T | CA503793827 | EPG5 | n.2216T>A c.4032T>A (p.Ala1344=) c.3772T>A (n.3772T>A) n.811T>A c.657T>A (p.Ala219=) n.4067T>A c.4059T>A (p.Ala1353=) c.3918T>A (p.Ala1306=) c.2994T>A (p.Ala998=) n.4132T>A c.3891T>A (p.Ala1297=) c.2967T>A (p.Ala989=) n.4114T>A | |
18 | g.45910695G>A | CA402340225 | EPG5 | n.2215C>T c.4031C>T (p.Ala1344Val) c.3771C>T (n.3771C>T) n.810C>T c.656C>T (p.Ala219Val) n.4066C>T c.4058C>T (p.Ala1353Val) c.3917C>T (p.Ala1306Val) c.2993C>T (p.Ala998Val) n.4131C>T c.3890C>T (p.Ala1297Val) c.2966C>T (p.Ala989Val) n.4113C>T | dbSNP gnomAD v3 gnomAD v4 |
18 | g.45910695G>C | CA402340226 | EPG5 | n.2215C>G c.4031C>G (p.Ala1344Gly) c.3771C>G (n.3771C>G) n.810C>G c.656C>G (p.Ala219Gly) n.4066C>G c.4058C>G (p.Ala1353Gly) c.3917C>G (p.Ala1306Gly) c.2993C>G (p.Ala998Gly) n.4131C>G c.3890C>G (p.Ala1297Gly) c.2966C>G (p.Ala989Gly) n.4113C>G | |
18 | g.45910695G= | CA2300590915 | EPG5 | n.2215C= c.4031C= (p.Ala1344=) c.3771C= (n.3771C=) n.810C= c.656C= (p.Ala219=) n.4066C= c.4058C= (p.Ala1353=) c.3917C= (p.Ala1306=) c.2993C= (p.Ala998=) n.4131C= c.3890C= (p.Ala1297=) c.2966C= (p.Ala989=) n.4113C= | |
18 | g.45910695G>T | CA402340227 | EPG5 | n.2215C>A c.4031C>A (p.Ala1344Asp) c.3771C>A (n.3771C>A) n.810C>A c.656C>A (p.Ala219Asp) n.4066C>A c.4058C>A (p.Ala1353Asp) c.3917C>A (p.Ala1306Asp) c.2993C>A (p.Ala998Asp) n.4131C>A c.3890C>A (p.Ala1297Asp) c.2966C>A (p.Ala989Asp) n.4113C>A | |
18 | g.45910696C>A | CA402340228 | EPG5 | n.2214G>T c.4030G>T (p.Ala1344Ser) c.3770G>T (n.3770G>T) n.809G>T c.655G>T (p.Ala219Ser) n.4065G>T c.4057G>T (p.Ala1353Ser) c.3916G>T (p.Ala1306Ser) c.2992G>T (p.Ala998Ser) n.4130G>T c.3889G>T (p.Ala1297Ser) c.2965G>T (p.Ala989Ser) n.4112G>T | gnomAD v4 |
18 | g.45910696C= | CA2300590916 | EPG5 | n.2214G= c.4030G= (p.Ala1344=) c.3770G= (n.3770G=) n.809G= c.655G= (p.Ala219=) n.4065G= c.4057G= (p.Ala1353=) c.3916G= (p.Ala1306=) c.2992G= (p.Ala998=) n.4130G= c.3889G= (p.Ala1297=) c.2965G= (p.Ala989=) n.4112G= | |
18 | g.45910696C>G | CA8948997 | EPG5 | n.2214G>C c.4030G>C (p.Ala1344Pro) c.3770G>C (n.3770G>C) n.809G>C c.655G>C (p.Ala219Pro) n.4065G>C c.4057G>C (p.Ala1353Pro) c.3916G>C (p.Ala1306Pro) c.2992G>C (p.Ala998Pro) n.4130G>C c.3889G>C (p.Ala1297Pro) c.2965G>C (p.Ala989Pro) n.4112G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910696C>T | CA402340229 | EPG5 | n.2214G>A c.4030G>A (p.Ala1344Thr) c.3770G>A (n.3770G>A) n.809G>A c.655G>A (p.Ala219Thr) n.4065G>A c.4057G>A (p.Ala1353Thr) c.3916G>A (p.Ala1306Thr) c.2992G>A (p.Ala998Thr) n.4130G>A c.3889G>A (p.Ala1297Thr) c.2965G>A (p.Ala989Thr) n.4112G>A | |
18 | g.45910697A>C | CA503793830 | EPG5 | n.2213T>G c.4029T>G (p.Pro1343=) c.3769T>G (n.3769T>G) n.808T>G c.654T>G (p.Pro218=) n.4064T>G c.4056T>G (p.Pro1352=) c.3915T>G (p.Pro1305=) c.2991T>G (p.Pro997=) n.4129T>G c.3888T>G (p.Pro1296=) c.2964T>G (p.Pro988=) n.4111T>G | |
18 | g.45910697A>G | CA503793833 | EPG5 | n.2213T>C c.4029T>C (p.Pro1343=) c.3769T>C (n.3769T>C) n.808T>C c.654T>C (p.Pro218=) n.4064T>C c.4056T>C (p.Pro1352=) c.3915T>C (p.Pro1305=) c.2991T>C (p.Pro997=) n.4129T>C c.3888T>C (p.Pro1296=) c.2964T>C (p.Pro988=) n.4111T>C | |
18 | g.45910697A>T | CA503793834 | EPG5 | n.2213T>A c.4029T>A (p.Pro1343=) c.3769T>A (n.3769T>A) n.808T>A c.654T>A (p.Pro218=) n.4064T>A c.4056T>A (p.Pro1352=) c.3915T>A (p.Pro1305=) c.2991T>A (p.Pro997=) n.4129T>A c.3888T>A (p.Pro1296=) c.2964T>A (p.Pro988=) n.4111T>A | |
18 | g.45910698G>A | CA402340232 | EPG5 | n.2212C>T c.4028C>T (p.Pro1343Leu) c.3768C>T (n.3768C>T) n.807C>T c.653C>T (p.Pro218Leu) n.4063C>T c.4055C>T (p.Pro1352Leu) c.3914C>T (p.Pro1305Leu) c.2990C>T (p.Pro997Leu) n.4128C>T c.3887C>T (p.Pro1296Leu) c.2963C>T (p.Pro988Leu) n.4110C>T | dbSNP gnomAD v4 COSMIC |
18 | g.45910698G>C | CA402340230 | EPG5 | n.2212C>G c.4028C>G (p.Pro1343Arg) c.3768C>G (n.3768C>G) n.807C>G c.653C>G (p.Pro218Arg) n.4063C>G c.4055C>G (p.Pro1352Arg) c.3914C>G (p.Pro1305Arg) c.2990C>G (p.Pro997Arg) n.4128C>G c.3887C>G (p.Pro1296Arg) c.2963C>G (p.Pro988Arg) n.4110C>G | |
18 | g.45910698G= | CA2300590917 | EPG5 | n.2212C= c.4028C= (p.Pro1343=) c.3768C= (n.3768C=) n.807C= c.653C= (p.Pro218=) n.4063C= c.4055C= (p.Pro1352=) c.3914C= (p.Pro1305=) c.2990C= (p.Pro997=) n.4128C= c.3887C= (p.Pro1296=) c.2963C= (p.Pro988=) n.4110C= | |
18 | g.45910698G>T | CA402340231 | EPG5 | n.2212C>A c.4028C>A (p.Pro1343His) c.3768C>A (n.3768C>A) n.807C>A c.653C>A (p.Pro218His) n.4063C>A c.4055C>A (p.Pro1352His) c.3914C>A (p.Pro1305His) c.2990C>A (p.Pro997His) n.4128C>A c.3887C>A (p.Pro1296His) c.2963C>A (p.Pro988His) n.4110C>A | |
18 | g.45910699G>A | CA402340233 | EPG5 | n.2211C>T c.4027C>T (p.Pro1343Ser) c.3767C>T (n.3767C>T) n.806C>T c.652C>T (p.Pro218Ser) n.4062C>T c.4054C>T (p.Pro1352Ser) c.3913C>T (p.Pro1305Ser) c.2989C>T (p.Pro997Ser) n.4127C>T c.3886C>T (p.Pro1296Ser) c.2962C>T (p.Pro988Ser) n.4109C>T | ClinVar dbSNP gnomAD v4 COSMIC |
18 | g.45910699G>C | CA402340234 | EPG5 | n.2211C>G c.4027C>G (p.Pro1343Ala) c.3767C>G (n.3767C>G) n.806C>G c.652C>G (p.Pro218Ala) n.4062C>G c.4054C>G (p.Pro1352Ala) c.3913C>G (p.Pro1305Ala) c.2989C>G (p.Pro997Ala) n.4127C>G c.3886C>G (p.Pro1296Ala) c.2962C>G (p.Pro988Ala) n.4109C>G | |
18 | g.45910699G= | CA2300590918 | EPG5 | n.2211C= c.4027C= (p.Pro1343=) c.3767C= (n.3767C=) n.806C= c.652C= (p.Pro218=) n.4062C= c.4054C= (p.Pro1352=) c.3913C= (p.Pro1305=) c.2989C= (p.Pro997=) n.4127C= c.3886C= (p.Pro1296=) c.2962C= (p.Pro988=) n.4109C= | |
18 | g.45910699G>T | CA402340235 | EPG5 | n.2211C>A c.4027C>A (p.Pro1343Thr) c.3767C>A (n.3767C>A) n.806C>A c.652C>A (p.Pro218Thr) n.4062C>A c.4054C>A (p.Pro1352Thr) c.3913C>A (p.Pro1305Thr) c.2989C>A (p.Pro997Thr) n.4127C>A c.3886C>A (p.Pro1296Thr) c.2962C>A (p.Pro988Thr) n.4109C>A | |
18 | g.45910700A= | CA2300590919 | EPG5 | n.2210T= c.4026T= (p.Ser1342=) c.3766T= (n.3766T=) n.805T= c.651T= (p.Ser217=) n.4061T= c.4053T= (p.Ser1351=) c.3912T= (p.Ser1304=) c.2988T= (p.Ser996=) n.4126T= c.3885T= (p.Ser1295=) c.2961T= (p.Ser987=) n.4108T= | |
18 | g.45910700A>C | CA402340236 | EPG5 | n.2210T>G c.4026T>G (p.Ser1342Arg) c.3766T>G (n.3766T>G) n.805T>G c.651T>G (p.Ser217Arg) n.4061T>G c.4053T>G (p.Ser1351Arg) c.3912T>G (p.Ser1304Arg) c.2988T>G (p.Ser996Arg) n.4126T>G c.3885T>G (p.Ser1295Arg) c.2961T>G (p.Ser987Arg) n.4108T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910700A>G | CA503793838 | EPG5 | n.2210T>C c.4026T>C (p.Ser1342=) c.3766T>C (n.3766T>C) n.805T>C c.651T>C (p.Ser217=) n.4061T>C c.4053T>C (p.Ser1351=) c.3912T>C (p.Ser1304=) c.2988T>C (p.Ser996=) n.4126T>C c.3885T>C (p.Ser1295=) c.2961T>C (p.Ser987=) n.4108T>C | |
18 | g.45910700A>T | CA402340237 | EPG5 | n.2210T>A c.4026T>A (p.Ser1342Arg) c.3766T>A (n.3766T>A) n.805T>A c.651T>A (p.Ser217Arg) n.4061T>A c.4053T>A (p.Ser1351Arg) c.3912T>A (p.Ser1304Arg) c.2988T>A (p.Ser996Arg) n.4126T>A c.3885T>A (p.Ser1295Arg) c.2961T>A (p.Ser987Arg) n.4108T>A | |
18 | g.45910701C>A | CA402340240 | EPG5 | n.2209G>T c.4025G>T (p.Ser1342Ile) c.3765G>T (n.3765G>T) n.804G>T c.650G>T (p.Ser217Ile) n.4060G>T c.4052G>T (p.Ser1351Ile) c.3911G>T (p.Ser1304Ile) c.2987G>T (p.Ser996Ile) n.4125G>T c.3884G>T (p.Ser1295Ile) c.2960G>T (p.Ser987Ile) n.4107G>T | |
18 | g.45910701C= | CA2300590920 | EPG5 | n.2209G= c.4025G= (p.Ser1342=) c.3765G= (n.3765G=) n.804G= c.650G= (p.Ser217=) n.4060G= c.4052G= (p.Ser1351=) c.3911G= (p.Ser1304=) c.2987G= (p.Ser996=) n.4125G= c.3884G= (p.Ser1295=) c.2960G= (p.Ser987=) n.4107G= | |
18 | g.45910701C>G | CA402340239 | EPG5 | n.2209G>C c.4025G>C (p.Ser1342Thr) c.3765G>C (n.3765G>C) n.804G>C c.650G>C (p.Ser217Thr) n.4060G>C c.4052G>C (p.Ser1351Thr) c.3911G>C (p.Ser1304Thr) c.2987G>C (p.Ser996Thr) n.4125G>C c.3884G>C (p.Ser1295Thr) c.2960G>C (p.Ser987Thr) n.4107G>C | dbSNP gnomAD v3 gnomAD v4 |
18 | g.45910701C>T | CA402340238 | EPG5 | n.2209G>A c.4025G>A (p.Ser1342Asn) c.3765G>A (n.3765G>A) n.804G>A c.650G>A (p.Ser217Asn) n.4060G>A c.4052G>A (p.Ser1351Asn) c.3911G>A (p.Ser1304Asn) c.2987G>A (p.Ser996Asn) n.4125G>A c.3884G>A (p.Ser1295Asn) c.2960G>A (p.Ser987Asn) n.4107G>A | dbSNP gnomAD v2 gnomAD v4 |
18 | g.45910702T>A | CA402340241 | EPG5 | n.2208A>T c.4024A>T (p.Ser1342Cys) c.3764A>T (n.3764A>T) n.803A>T c.649A>T (p.Ser217Cys) n.4059A>T c.4051A>T (p.Ser1351Cys) c.3910A>T (p.Ser1304Cys) c.2986A>T (p.Ser996Cys) n.4124A>T c.3883A>T (p.Ser1295Cys) c.2959A>T (p.Ser987Cys) n.4106A>T | |
18 | g.45910702T>C | CA402340242 | EPG5 | n.2208A>G c.4024A>G (p.Ser1342Gly) c.3764A>G (n.3764A>G) n.803A>G c.649A>G (p.Ser217Gly) n.4059A>G c.4051A>G (p.Ser1351Gly) c.3910A>G (p.Ser1304Gly) c.2986A>G (p.Ser996Gly) n.4124A>G c.3883A>G (p.Ser1295Gly) c.2959A>G (p.Ser987Gly) n.4106A>G | |
18 | g.45910702T>G | CA402340243 | EPG5 | n.2208A>C c.4024A>C (p.Ser1342Arg) c.3764A>C (n.3764A>C) n.803A>C c.649A>C (p.Ser217Arg) n.4059A>C c.4051A>C (p.Ser1351Arg) c.3910A>C (p.Ser1304Arg) c.2986A>C (p.Ser996Arg) n.4124A>C c.3883A>C (p.Ser1295Arg) c.2959A>C (p.Ser987Arg) n.4106A>C | |
18 | g.45910703T>A | CA402340244 | EPG5 | n.2207A>T c.4023A>T (p.Gln1341His) c.3763A>T (n.3763A>T) n.802A>T c.648A>T (p.Gln216His) n.4058A>T c.4050A>T (p.Gln1350His) c.3909A>T (p.Gln1303His) c.2985A>T (p.Gln995His) n.4123A>T c.3882A>T (p.Gln1294His) c.2958A>T (p.Gln986His) n.4105A>T | gnomAD v4 |
18 | g.45910703T>C | CA8948998 | EPG5 | n.2207A>G c.4023A>G (p.Gln1341=) c.3763A>G (n.3763A>G) n.802A>G c.648A>G (p.Gln216=) n.4058A>G c.4050A>G (p.Gln1350=) c.3909A>G (p.Gln1303=) c.2985A>G (p.Gln995=) n.4123A>G c.3882A>G (p.Gln1294=) c.2958A>G (p.Gln986=) n.4105A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.45910703T>G | CA402340245 | EPG5 | n.2207A>C c.4023A>C (p.Gln1341His) c.3763A>C (n.3763A>C) n.802A>C c.648A>C (p.Gln216His) n.4058A>C c.4050A>C (p.Gln1350His) c.3909A>C (p.Gln1303His) c.2985A>C (p.Gln995His) n.4123A>C c.3882A>C (p.Gln1294His) c.2958A>C (p.Gln986His) n.4105A>C | |
18 | g.45910703T= | CA2300590921 | EPG5 | n.2207A= c.4023A= (p.Gln1341=) c.3763A= (n.3763A=) n.802A= c.648A= (p.Gln216=) n.4058A= c.4050A= (p.Gln1350=) c.3909A= (p.Gln1303=) c.2985A= (p.Gln995=) n.4123A= c.3882A= (p.Gln1294=) c.2958A= (p.Gln986=) n.4105A= | |
18 | g.45910704T>A | CA402340248 | EPG5 | n.2206A>T c.4022A>T (p.Gln1341Leu) c.3762A>T (n.3762A>T) n.801A>T c.647A>T (p.Gln216Leu) n.4057A>T c.4049A>T (p.Gln1350Leu) c.3908A>T (p.Gln1303Leu) c.2984A>T (p.Gln995Leu) n.4122A>T c.3881A>T (p.Gln1294Leu) c.2957A>T (p.Gln986Leu) n.4104A>T | |
18 | g.45910704T>C | CA402340246 | EPG5 | n.2206A>G c.4022A>G (p.Gln1341Arg) c.3762A>G (n.3762A>G) n.801A>G c.647A>G (p.Gln216Arg) n.4057A>G c.4049A>G (p.Gln1350Arg) c.3908A>G (p.Gln1303Arg) c.2984A>G (p.Gln995Arg) n.4122A>G c.3881A>G (p.Gln1294Arg) c.2957A>G (p.Gln986Arg) n.4104A>G | gnomAD v4 |
18 | g.45910704T>G | CA402340247 | EPG5 | n.2206A>C c.4022A>C (p.Gln1341Pro) c.3762A>C (n.3762A>C) n.801A>C c.647A>C (p.Gln216Pro) n.4057A>C c.4049A>C (p.Gln1350Pro) c.3908A>C (p.Gln1303Pro) c.2984A>C (p.Gln995Pro) n.4122A>C c.3881A>C (p.Gln1294Pro) c.2957A>C (p.Gln986Pro) n.4104A>C | |
18 | g.45910705G>A | CA402340249 | EPG5 | n.2205C>T c.4021C>T (p.Gln1341Ter) c.3761C>T (n.3761C>T) n.800C>T c.646C>T (p.Gln216Ter) n.4056C>T c.4048C>T (p.Gln1350Ter) c.3907C>T (p.Gln1303Ter) c.2983C>T (p.Gln995Ter) n.4121C>T c.3880C>T (p.Gln1294Ter) c.2956C>T (p.Gln986Ter) n.4103C>T | |
18 | g.45910705G>C | CA402340250 | EPG5 | n.2205C>G c.4021C>G (p.Gln1341Glu) c.3761C>G (n.3761C>G) n.800C>G c.646C>G (p.Gln216Glu) n.4056C>G c.4048C>G (p.Gln1350Glu) c.3907C>G (p.Gln1303Glu) c.2983C>G (p.Gln995Glu) n.4121C>G c.3880C>G (p.Gln1294Glu) c.2956C>G (p.Gln986Glu) n.4103C>G | |
18 | g.45910705G>T | CA402340251 | EPG5 | n.2205C>A c.4021C>A (p.Gln1341Lys) c.3761C>A (n.3761C>A) n.800C>A c.646C>A (p.Gln216Lys) n.4056C>A c.4048C>A (p.Gln1350Lys) c.3907C>A (p.Gln1303Lys) c.2983C>A (p.Gln995Lys) n.4121C>A c.3880C>A (p.Gln1294Lys) c.2956C>A (p.Gln986Lys) n.4103C>A | |
18 | g.45910706A>C | CA402340252 | EPG5 | n.2204T>G c.4020T>G (p.Phe1340Leu) c.3760T>G (n.3760T>G) n.799T>G c.645T>G (p.Phe215Leu) n.4055T>G c.4047T>G (p.Phe1349Leu) c.3906T>G (p.Phe1302Leu) c.2982T>G (p.Phe994Leu) n.4120T>G c.3879T>G (p.Phe1293Leu) c.2955T>G (p.Phe985Leu) n.4102T>G | |
18 | g.45910706A>G | CA503793848 | EPG5 | n.2204T>C c.4020T>C (p.Phe1340=) c.3760T>C (n.3760T>C) n.799T>C c.645T>C (p.Phe215=) n.4055T>C c.4047T>C (p.Phe1349=) c.3906T>C (p.Phe1302=) c.2982T>C (p.Phe994=) n.4120T>C c.3879T>C (p.Phe1293=) c.2955T>C (p.Phe985=) n.4102T>C | |
18 | g.45910706A>T | CA402340253 | EPG5 | n.2204T>A c.4020T>A (p.Phe1340Leu) c.3760T>A (n.3760T>A) n.799T>A c.645T>A (p.Phe215Leu) n.4055T>A c.4047T>A (p.Phe1349Leu) c.3906T>A (p.Phe1302Leu) c.2982T>A (p.Phe994Leu) n.4120T>A c.3879T>A (p.Phe1293Leu) c.2955T>A (p.Phe985Leu) n.4102T>A | |
18 | g.45910711dup | CA2573155342 | EPG5 | n.2204dup c.4020dup (p.Gln1341SerfsTer21) c.3760dup (n.3760dup) n.799dup c.645dup (p.Gln216SerfsTer21) n.4055dup c.4047dup (p.Gln1350SerfsTer21) c.3906dup (p.Gln1303SerfsTer21) c.2982dup (p.Gln995SerfsTer21) n.4120dup c.3879dup (p.Gln1294SerfsTer21) c.2955dup (p.Gln986SerfsTer21) n.4102dup | ClinVar dbSNP gnomAD v4 |
18 | g.45910707_45910734del | CA2812342751 | EPG5 | n.2177_2204del c.3993_4020del (p.Asp1332LysfsTer9) c.3733_3760del (n.3733_3760del) n.772_799del c.618_645del (p.Asp207LysfsTer9) n.4028_4055del c.4020_4047del (p.Asp1341LysfsTer9) c.3879_3906del (p.Asp1294LysfsTer9) c.2955_2982del (p.Asp986LysfsTer9) n.4093_4120del c.3852_3879del (p.Asp1285LysfsTer9) c.2928_2955del (p.Asp977LysfsTer9) n.4075_4102del | |
18 | g.45910707A>C | CA402340254 | EPG5 | n.2203T>G c.4019T>G (p.Phe1340Cys) c.3759T>G (n.3759T>G) n.798T>G c.644T>G (p.Phe215Cys) n.4054T>G c.4046T>G (p.Phe1349Cys) c.3905T>G (p.Phe1302Cys) c.2981T>G (p.Phe994Cys) n.4119T>G c.3878T>G (p.Phe1293Cys) c.2954T>G (p.Phe985Cys) n.4101T>G | |
18 | g.45910707A>G | CA402340255 | EPG5 | n.2203T>C c.4019T>C (p.Phe1340Ser) c.3759T>C (n.3759T>C) n.798T>C c.644T>C (p.Phe215Ser) n.4054T>C c.4046T>C (p.Phe1349Ser) c.3905T>C (p.Phe1302Ser) c.2981T>C (p.Phe994Ser) n.4119T>C c.3878T>C (p.Phe1293Ser) c.2954T>C (p.Phe985Ser) n.4101T>C | |
18 | g.45910707A>T | CA402340256 | EPG5 | n.2203T>A c.4019T>A (p.Phe1340Tyr) c.3759T>A (n.3759T>A) n.798T>A c.644T>A (p.Phe215Tyr) n.4054T>A c.4046T>A (p.Phe1349Tyr) c.3905T>A (p.Phe1302Tyr) c.2981T>A (p.Phe994Tyr) n.4119T>A c.3878T>A (p.Phe1293Tyr) c.2954T>A (p.Phe985Tyr) n.4101T>A | |
18 | g.45910708A>C | CA402340257 | EPG5 | n.2202T>G c.4018T>G (p.Phe1340Val) c.3758T>G (n.3758T>G) n.797T>G c.643T>G (p.Phe215Val) n.4053T>G c.4045T>G (p.Phe1349Val) c.3904T>G (p.Phe1302Val) c.2980T>G (p.Phe994Val) n.4118T>G c.3877T>G (p.Phe1293Val) c.2953T>G (p.Phe985Val) n.4100T>G | |
18 | g.45910708A>G | CA402340258 | EPG5 | n.2202T>C c.4018T>C (p.Phe1340Leu) c.3758T>C (n.3758T>C) n.797T>C c.643T>C (p.Phe215Leu) n.4053T>C c.4045T>C (p.Phe1349Leu) c.3904T>C (p.Phe1302Leu) c.2980T>C (p.Phe994Leu) n.4118T>C c.3877T>C (p.Phe1293Leu) c.2953T>C (p.Phe985Leu) n.4100T>C | |
18 | g.45910708A>T | CA402340259 | EPG5 | n.2202T>A c.4018T>A (p.Phe1340Ile) c.3758T>A (n.3758T>A) n.797T>A c.643T>A (p.Phe215Ile) n.4053T>A c.4045T>A (p.Phe1349Ile) c.3904T>A (p.Phe1302Ile) c.2980T>A (p.Phe994Ile) n.4118T>A c.3877T>A (p.Phe1293Ile) c.2953T>A (p.Phe985Ile) n.4100T>A | |
18 | g.45910709A>C | CA402340260 | EPG5 | n.2201T>G c.4017T>G (p.Phe1339Leu) c.3757T>G (n.3757T>G) n.796T>G c.642T>G (p.Phe214Leu) n.4052T>G c.4044T>G (p.Phe1348Leu) c.3903T>G (p.Phe1301Leu) c.2979T>G (p.Phe993Leu) n.4117T>G c.3876T>G (p.Phe1292Leu) c.2952T>G (p.Phe984Leu) n.4099T>G | |
18 | g.45910709A>G | CA503793856 | EPG5 | n.2201T>C c.4017T>C (p.Phe1339=) c.3757T>C (n.3757T>C) n.796T>C c.642T>C (p.Phe214=) n.4052T>C c.4044T>C (p.Phe1348=) c.3903T>C (p.Phe1301=) c.2979T>C (p.Phe993=) n.4117T>C c.3876T>C (p.Phe1292=) c.2952T>C (p.Phe984=) n.4099T>C | |
18 | g.45910709A>T | CA402340261 | EPG5 | n.2201T>A c.4017T>A (p.Phe1339Leu) c.3757T>A (n.3757T>A) n.796T>A c.642T>A (p.Phe214Leu) n.4052T>A c.4044T>A (p.Phe1348Leu) c.3903T>A (p.Phe1301Leu) c.2979T>A (p.Phe993Leu) n.4117T>A c.3876T>A (p.Phe1292Leu) c.2952T>A (p.Phe984Leu) n.4099T>A | |
18 | g.45910710A= | CA2300590922 | EPG5 | n.2200T= c.4016T= (p.Phe1339=) c.3756T= (n.3756T=) n.795T= c.641T= (p.Phe214=) n.4051T= c.4043T= (p.Phe1348=) c.3902T= (p.Phe1301=) c.2978T= (p.Phe993=) n.4116T= c.3875T= (p.Phe1292=) c.2951T= (p.Phe984=) n.4098T= | |
18 | g.45910710A>C | CA402340262 | EPG5 | n.2200T>G c.4016T>G (p.Phe1339Cys) c.3756T>G (n.3756T>G) n.795T>G c.641T>G (p.Phe214Cys) n.4051T>G c.4043T>G (p.Phe1348Cys) c.3902T>G (p.Phe1301Cys) c.2978T>G (p.Phe993Cys) n.4116T>G c.3875T>G (p.Phe1292Cys) c.2951T>G (p.Phe984Cys) n.4098T>G | |
18 | g.45910710A>G | CA402340263 | EPG5 | n.2200T>C c.4016T>C (p.Phe1339Ser) c.3756T>C (n.3756T>C) n.795T>C c.641T>C (p.Phe214Ser) n.4051T>C c.4043T>C (p.Phe1348Ser) c.3902T>C (p.Phe1301Ser) c.2978T>C (p.Phe993Ser) n.4116T>C c.3875T>C (p.Phe1292Ser) c.2951T>C (p.Phe984Ser) n.4098T>C | |
18 | g.45910710A>T | CA8948999 | EPG5 | n.2200T>A c.4016T>A (p.Phe1339Tyr) c.3756T>A (n.3756T>A) n.795T>A c.641T>A (p.Phe214Tyr) n.4051T>A c.4043T>A (p.Phe1348Tyr) c.3902T>A (p.Phe1301Tyr) c.2978T>A (p.Phe993Tyr) n.4116T>A c.3875T>A (p.Phe1292Tyr) c.2951T>A (p.Phe984Tyr) n.4098T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910711A>C | CA402340264 | EPG5 | n.2199T>G c.4015T>G (p.Phe1339Val) c.3755T>G (n.3755T>G) n.794T>G c.640T>G (p.Phe214Val) n.4050T>G c.4042T>G (p.Phe1348Val) c.3901T>G (p.Phe1301Val) c.2977T>G (p.Phe993Val) n.4115T>G c.3874T>G (p.Phe1292Val) c.2950T>G (p.Phe984Val) n.4097T>G | |
18 | g.45910711A>G | CA402340265 | EPG5 | n.2199T>C c.4015T>C (p.Phe1339Leu) c.3755T>C (n.3755T>C) n.794T>C c.640T>C (p.Phe214Leu) n.4050T>C c.4042T>C (p.Phe1348Leu) c.3901T>C (p.Phe1301Leu) c.2977T>C (p.Phe993Leu) n.4115T>C c.3874T>C (p.Phe1292Leu) c.2950T>C (p.Phe984Leu) n.4097T>C | |
18 | g.45910711A>T | CA402340266 | EPG5 | n.2199T>A c.4015T>A (p.Phe1339Ile) c.3755T>A (n.3755T>A) n.794T>A c.640T>A (p.Phe214Ile) n.4050T>A c.4042T>A (p.Phe1348Ile) c.3901T>A (p.Phe1301Ile) c.2977T>A (p.Phe993Ile) n.4115T>A c.3874T>A (p.Phe1292Ile) c.2950T>A (p.Phe984Ile) n.4097T>A | |
18 | g.45910712C>A | CA8949001 | EPG5 | n.2198G>T c.4014G>T (p.Arg1338Ser) c.3754G>T (n.3754G>T) n.793G>T c.639G>T (p.Arg213Ser) n.4049G>T c.4041G>T (p.Arg1347Ser) c.3900G>T (p.Arg1300Ser) c.2976G>T (p.Arg992Ser) n.4114G>T c.3873G>T (p.Arg1291Ser) c.2949G>T (p.Arg983Ser) n.4096G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910712C= | CA2300590923 | EPG5 | n.2198G= c.4014G= (p.Arg1338=) c.3754G= (n.3754G=) n.793G= c.639G= (p.Arg213=) n.4049G= c.4041G= (p.Arg1347=) c.3900G= (p.Arg1300=) c.2976G= (p.Arg992=) n.4114G= c.3873G= (p.Arg1291=) c.2949G= (p.Arg983=) n.4096G= | |
18 | g.45910712C>G | CA8949000 | EPG5 | n.2198G>C c.4014G>C (p.Arg1338Ser) c.3754G>C (n.3754G>C) n.793G>C c.639G>C (p.Arg213Ser) n.4049G>C c.4041G>C (p.Arg1347Ser) c.3900G>C (p.Arg1300Ser) c.2976G>C (p.Arg992Ser) n.4114G>C c.3873G>C (p.Arg1291Ser) c.2949G>C (p.Arg983Ser) n.4096G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.45910712C>T | CA503793862 | EPG5 | n.2198G>A c.4014G>A (p.Arg1338=) c.3754G>A (n.3754G>A) n.793G>A c.639G>A (p.Arg213=) n.4049G>A c.4041G>A (p.Arg1347=) c.3900G>A (p.Arg1300=) c.2976G>A (p.Arg992=) n.4114G>A c.3873G>A (p.Arg1291=) c.2949G>A (p.Arg983=) n.4096G>A | |
18 | g.45910712_45910715delinsCCTT | CA2300590924 | EPG5 | n.2195_2198delinsAAGG c.4011_4014delinsAAGG (p.Arg1337=) c.3751_3754delinsAAGG (n.3751_3754delinsAAGG) n.790_793delinsAAGG c.636_639delinsAAGG (p.Arg212=) n.4046_4049delinsAAGG c.4038_4041delinsAAGG (p.Arg1346=) c.3897_3900delinsAAGG (p.Arg1299=) c.2973_2976delinsAAGG (p.Arg991=) n.4111_4114delinsAAGG c.3870_3873delinsAAGG (p.Arg1290=) c.2946_2949delinsAAGG (p.Arg982=) n.4093_4096delinsAAGG | |
18 | g.45910713C>A | CA402340267 | EPG5 | n.2197G>T c.4013G>T (p.Arg1338Met) c.3753G>T (n.3753G>T) n.792G>T c.638G>T (p.Arg213Met) n.4048G>T c.4040G>T (p.Arg1347Met) c.3899G>T (p.Arg1300Met) c.2975G>T (p.Arg992Met) n.4113G>T c.3872G>T (p.Arg1291Met) c.2948G>T (p.Arg983Met) n.4095G>T | dbSNP |
18 | g.45910713C= | CA2300590925 | EPG5 | n.2197G= c.4013G= (p.Arg1338=) c.3753G= (n.3753G=) n.792G= c.638G= (p.Arg213=) n.4048G= c.4040G= (p.Arg1347=) c.3899G= (p.Arg1300=) c.2975G= (p.Arg992=) n.4113G= c.3872G= (p.Arg1291=) c.2948G= (p.Arg983=) n.4095G= | |
18 | g.45910713C>G | CA402340268 | EPG5 | n.2197G>C c.4013G>C (p.Arg1338Thr) c.3753G>C (n.3753G>C) n.792G>C c.638G>C (p.Arg213Thr) n.4048G>C c.4040G>C (p.Arg1347Thr) c.3899G>C (p.Arg1300Thr) c.2975G>C (p.Arg992Thr) n.4113G>C c.3872G>C (p.Arg1291Thr) c.2948G>C (p.Arg983Thr) n.4095G>C | |
18 | g.45910713C>T | CA402340269 | EPG5 | n.2197G>A c.4013G>A (p.Arg1338Lys) c.3753G>A (n.3753G>A) n.792G>A c.638G>A (p.Arg213Lys) n.4048G>A c.4040G>A (p.Arg1347Lys) c.3899G>A (p.Arg1300Lys) c.2975G>A (p.Arg992Lys) n.4113G>A c.3872G>A (p.Arg1291Lys) c.2948G>A (p.Arg983Lys) n.4095G>A | dbSNP gnomAD v2 gnomAD v4 |
18 | g.45910717_45910719del | CA299760493 | EPG5 | n.2195_2197del c.4011_4013del (p.Arg1338del) c.3751_3753del (n.3751_3753del) n.790_792del c.636_638del (p.Arg213del) n.4046_4048del c.4038_4040del (p.Arg1347del) c.3897_3899del (p.Arg1300del) c.2973_2975del (p.Arg992del) n.4111_4113del c.3870_3872del (p.Arg1291del) c.2946_2948del (p.Arg983del) n.4093_4095del | dbSNP |
18 | g.45910714T>A | CA402340270 | EPG5 | n.2196A>T c.4012A>T (p.Arg1338Trp) c.3752A>T (n.3752A>T) n.791A>T c.637A>T (p.Arg213Trp) n.4047A>T c.4039A>T (p.Arg1347Trp) c.3898A>T (p.Arg1300Trp) c.2974A>T (p.Arg992Trp) n.4112A>T c.3871A>T (p.Arg1291Trp) c.2947A>T (p.Arg983Trp) n.4094A>T | gnomAD v4 |
18 | g.45910714T>C | CA402340271 | EPG5 | n.2196A>G c.4012A>G (p.Arg1338Gly) c.3752A>G (n.3752A>G) n.791A>G c.637A>G (p.Arg213Gly) n.4047A>G c.4039A>G (p.Arg1347Gly) c.3898A>G (p.Arg1300Gly) c.2974A>G (p.Arg992Gly) n.4112A>G c.3871A>G (p.Arg1291Gly) c.2947A>G (p.Arg983Gly) n.4094A>G | |
18 | g.45910714T>G | CA503793864 | EPG5 | n.2196A>C c.4012A>C (p.Arg1338=) c.3752A>C (n.3752A>C) n.791A>C c.637A>C (p.Arg213=) n.4047A>C c.4039A>C (p.Arg1347=) c.3898A>C (p.Arg1300=) c.2974A>C (p.Arg992=) n.4112A>C c.3871A>C (p.Arg1291=) c.2947A>C (p.Arg983=) n.4094A>C | |
18 | g.45910715T>A | CA402340272 | EPG5 | n.2195A>T c.4011A>T (p.Arg1337Ser) c.3751A>T (n.3751A>T) n.790A>T c.636A>T (p.Arg212Ser) n.4046A>T c.4038A>T (p.Arg1346Ser) c.3897A>T (p.Arg1299Ser) c.2973A>T (p.Arg991Ser) n.4111A>T c.3870A>T (p.Arg1290Ser) c.2946A>T (p.Arg982Ser) n.4093A>T | |
18 | g.45910715T>C | CA503793865 | EPG5 | n.2195A>G c.4011A>G (p.Arg1337=) c.3751A>G (n.3751A>G) n.790A>G c.636A>G (p.Arg212=) n.4046A>G c.4038A>G (p.Arg1346=) c.3897A>G (p.Arg1299=) c.2973A>G (p.Arg991=) n.4111A>G c.3870A>G (p.Arg1290=) c.2946A>G (p.Arg982=) n.4093A>G | gnomAD v4 |
18 | g.45910715T>G | CA402340273 | EPG5 | n.2195A>C c.4011A>C (p.Arg1337Ser) c.3751A>C (n.3751A>C) n.790A>C c.636A>C (p.Arg212Ser) n.4046A>C c.4038A>C (p.Arg1346Ser) c.3897A>C (p.Arg1299Ser) c.2973A>C (p.Arg991Ser) n.4111A>C c.3870A>C (p.Arg1290Ser) c.2946A>C (p.Arg982Ser) n.4093A>C | |
18 | g.45910716C>A | CA402340276 | EPG5 | n.2194G>T c.4010G>T (p.Arg1337Ile) c.3750G>T (n.3750G>T) n.789G>T c.635G>T (p.Arg212Ile) n.4045G>T c.4037G>T (p.Arg1346Ile) c.3896G>T (p.Arg1299Ile) c.2972G>T (p.Arg991Ile) n.4110G>T c.3869G>T (p.Arg1290Ile) c.2945G>T (p.Arg982Ile) n.4092G>T | |
18 | g.45910716C>G | CA402340275 | EPG5 | n.2194G>C c.4010G>C (p.Arg1337Thr) c.3750G>C (n.3750G>C) n.789G>C c.635G>C (p.Arg212Thr) n.4045G>C c.4037G>C (p.Arg1346Thr) c.3896G>C (p.Arg1299Thr) c.2972G>C (p.Arg991Thr) n.4110G>C c.3869G>C (p.Arg1290Thr) c.2945G>C (p.Arg982Thr) n.4092G>C | |
18 | g.45910716C>T | CA402340274 | EPG5 | n.2194G>A c.4010G>A (p.Arg1337Lys) c.3750G>A (n.3750G>A) n.789G>A c.635G>A (p.Arg212Lys) n.4045G>A c.4037G>A (p.Arg1346Lys) c.3896G>A (p.Arg1299Lys) c.2972G>A (p.Arg991Lys) n.4110G>A c.3869G>A (p.Arg1290Lys) c.2945G>A (p.Arg982Lys) n.4092G>A | COSMIC |
18 | g.45910717T>A | CA402340277 | EPG5 | n.2193A>T c.4009A>T (p.Arg1337Ter) c.3749A>T (n.3749A>T) n.788A>T c.634A>T (p.Arg212Ter) n.4044A>T c.4036A>T (p.Arg1346Ter) c.3895A>T (p.Arg1299Ter) c.2971A>T (p.Arg991Ter) n.4109A>T c.3868A>T (p.Arg1290Ter) c.2944A>T (p.Arg982Ter) n.4091A>T | |
18 | g.45910717T>C | CA402340278 | EPG5 | n.2193A>G c.4009A>G (p.Arg1337Gly) c.3749A>G (n.3749A>G) n.788A>G c.634A>G (p.Arg212Gly) n.4044A>G c.4036A>G (p.Arg1346Gly) c.3895A>G (p.Arg1299Gly) c.2971A>G (p.Arg991Gly) n.4109A>G c.3868A>G (p.Arg1290Gly) c.2944A>G (p.Arg982Gly) n.4091A>G | dbSNP gnomAD v2 gnomAD v4 |
18 | g.45910717T>G | CA503793868 | EPG5 | n.2193A>C c.4009A>C (p.Arg1337=) c.3749A>C (n.3749A>C) n.788A>C c.634A>C (p.Arg212=) n.4044A>C c.4036A>C (p.Arg1346=) c.3895A>C (p.Arg1299=) c.2971A>C (p.Arg991=) n.4109A>C c.3868A>C (p.Arg1290=) c.2944A>C (p.Arg982=) n.4091A>C | |
18 | g.45910717T= | CA2300590926 | EPG5 | n.2193A= c.4009A= (p.Arg1337=) c.3749A= (n.3749A=) n.788A= c.634A= (p.Arg212=) n.4044A= c.4036A= (p.Arg1346=) c.3895A= (p.Arg1299=) c.2971A= (p.Arg991=) n.4109A= c.3868A= (p.Arg1290=) c.2944A= (p.Arg982=) n.4091A= | |
18 | g.45910718T>A | CA503793872 | EPG5 | n.2192A>T c.4008A>T (p.Gly1336=) c.3748A>T (n.3748A>T) n.787A>T c.633A>T (p.Gly211=) n.4043A>T c.4035A>T (p.Gly1345=) c.3894A>T (p.Gly1298=) c.2970A>T (p.Gly990=) n.4108A>T c.3867A>T (p.Gly1289=) c.2943A>T (p.Gly981=) n.4090A>T | |
18 | g.45910718T>C | CA503793873 | EPG5 | n.2192A>G c.4008A>G (p.Gly1336=) c.3748A>G (n.3748A>G) n.787A>G c.633A>G (p.Gly211=) n.4043A>G c.4035A>G (p.Gly1345=) c.3894A>G (p.Gly1298=) c.2970A>G (p.Gly990=) n.4108A>G c.3867A>G (p.Gly1289=) c.2943A>G (p.Gly981=) n.4090A>G | |
18 | g.45910718T>G | CA503793874 | EPG5 | n.2192A>C c.4008A>C (p.Gly1336=) c.3748A>C (n.3748A>C) n.787A>C c.633A>C (p.Gly211=) n.4043A>C c.4035A>C (p.Gly1345=) c.3894A>C (p.Gly1298=) c.2970A>C (p.Gly990=) n.4108A>C c.3867A>C (p.Gly1289=) c.2943A>C (p.Gly981=) n.4090A>C | |
18 | g.45910719C>A | CA402340279 | EPG5 | n.2191G>T c.4007G>T (p.Gly1336Val) c.3747G>T (n.3747G>T) n.786G>T c.632G>T (p.Gly211Val) n.4042G>T c.4034G>T (p.Gly1345Val) c.3893G>T (p.Gly1298Val) c.2969G>T (p.Gly990Val) n.4107G>T c.3866G>T (p.Gly1289Val) c.2942G>T (p.Gly981Val) n.4089G>T | |
18 | g.45910719C= | CA2300590927 | EPG5 | n.2191G= c.4007G= (p.Gly1336=) c.3747G= (n.3747G=) n.786G= c.632G= (p.Gly211=) n.4042G= c.4034G= (p.Gly1345=) c.3893G= (p.Gly1298=) c.2969G= (p.Gly990=) n.4107G= c.3866G= (p.Gly1289=) c.2942G= (p.Gly981=) n.4089G= | |
18 | g.45910719C>G | CA402340280 | EPG5 | n.2191G>C c.4007G>C (p.Gly1336Ala) c.3747G>C (n.3747G>C) n.786G>C c.632G>C (p.Gly211Ala) n.4042G>C c.4034G>C (p.Gly1345Ala) c.3893G>C (p.Gly1298Ala) c.2969G>C (p.Gly990Ala) n.4107G>C c.3866G>C (p.Gly1289Ala) c.2942G>C (p.Gly981Ala) n.4089G>C | |
18 | g.45910719C>T | CA402340281 | EPG5 | n.2191G>A c.4007G>A (p.Gly1336Glu) c.3747G>A (n.3747G>A) n.786G>A c.632G>A (p.Gly211Glu) n.4042G>A c.4034G>A (p.Gly1345Glu) c.3893G>A (p.Gly1298Glu) c.2969G>A (p.Gly990Glu) n.4107G>A c.3866G>A (p.Gly1289Glu) c.2942G>A (p.Gly981Glu) n.4089G>A | ClinVar dbSNP |
18 | g.45910720C>A | CA402340282 | EPG5 | n.2190G>T c.4006G>T (p.Gly1336Ter) c.3746G>T (n.3746G>T) n.785G>T c.631G>T (p.Gly211Ter) n.4041G>T c.4033G>T (p.Gly1345Ter) c.3892G>T (p.Gly1298Ter) c.2968G>T (p.Gly990Ter) n.4106G>T c.3865G>T (p.Gly1289Ter) c.2941G>T (p.Gly981Ter) n.4088G>T | |
18 | g.45910720C>G | CA402340283 | EPG5 | n.2190G>C c.4006G>C (p.Gly1336Arg) c.3746G>C (n.3746G>C) n.785G>C c.631G>C (p.Gly211Arg) n.4041G>C c.4033G>C (p.Gly1345Arg) c.3892G>C (p.Gly1298Arg) c.2968G>C (p.Gly990Arg) n.4106G>C c.3865G>C (p.Gly1289Arg) c.2941G>C (p.Gly981Arg) n.4088G>C | |
18 | g.45910720C>T | CA402340284 | EPG5 | n.2190G>A c.4006G>A (p.Gly1336Arg) c.3746G>A (n.3746G>A) n.785G>A c.631G>A (p.Gly211Arg) n.4041G>A c.4033G>A (p.Gly1345Arg) c.3892G>A (p.Gly1298Arg) c.2968G>A (p.Gly990Arg) n.4106G>A c.3865G>A (p.Gly1289Arg) c.2941G>A (p.Gly981Arg) n.4088G>A | |
18 | g.45910721A= | CA2300590928 | EPG5 | n.2189T= c.4005T= (p.Ile1335=) c.3745T= (n.3745T=) n.784T= c.630T= (p.Ile210=) n.4040T= c.4032T= (p.Ile1344=) c.3891T= (p.Ile1297=) c.2967T= (p.Ile989=) n.4105T= c.3864T= (p.Ile1288=) c.2940T= (p.Ile980=) n.4087T= | |
18 | g.45910721A>C | CA402340285 | EPG5 | n.2189T>G c.4005T>G (p.Ile1335Met) c.3745T>G (n.3745T>G) n.784T>G c.630T>G (p.Ile210Met) n.4040T>G c.4032T>G (p.Ile1344Met) c.3891T>G (p.Ile1297Met) c.2967T>G (p.Ile989Met) n.4105T>G c.3864T>G (p.Ile1288Met) c.2940T>G (p.Ile980Met) n.4087T>G | |
18 | g.45910721A>G | CA503793875 | EPG5 | n.2189T>C c.4005T>C (p.Ile1335=) c.3745T>C (n.3745T>C) n.784T>C c.630T>C (p.Ile210=) n.4040T>C c.4032T>C (p.Ile1344=) c.3891T>C (p.Ile1297=) c.2967T>C (p.Ile989=) n.4105T>C c.3864T>C (p.Ile1288=) c.2940T>C (p.Ile980=) n.4087T>C | ClinVar dbSNP gnomAD v2 |
18 | g.45910721A>T | CA503793876 | EPG5 | n.2189T>A c.4005T>A (p.Ile1335=) c.3745T>A (n.3745T>A) n.784T>A c.630T>A (p.Ile210=) n.4040T>A c.4032T>A (p.Ile1344=) c.3891T>A (p.Ile1297=) c.2967T>A (p.Ile989=) n.4105T>A c.3864T>A (p.Ile1288=) c.2940T>A (p.Ile980=) n.4087T>A | |
18 | g.45910722A= | CA2300590929 | EPG5 | n.2188T= c.4004T= (p.Ile1335=) c.3744T= (n.3744T=) n.783T= c.629T= (p.Ile210=) n.4039T= c.4031T= (p.Ile1344=) c.3890T= (p.Ile1297=) c.2966T= (p.Ile989=) n.4104T= c.3863T= (p.Ile1288=) c.2939T= (p.Ile980=) n.4086T= | |
18 | g.45910722A>C | CA402340286 | EPG5 | n.2188T>G c.4004T>G (p.Ile1335Ser) c.3744T>G (n.3744T>G) n.783T>G c.629T>G (p.Ile210Ser) n.4039T>G c.4031T>G (p.Ile1344Ser) c.3890T>G (p.Ile1297Ser) c.2966T>G (p.Ile989Ser) n.4104T>G c.3863T>G (p.Ile1288Ser) c.2939T>G (p.Ile980Ser) n.4086T>G | |
18 | g.45910722A>G | CA402340287 | EPG5 | n.2188T>C c.4004T>C (p.Ile1335Thr) c.3744T>C (n.3744T>C) n.783T>C c.629T>C (p.Ile210Thr) n.4039T>C c.4031T>C (p.Ile1344Thr) c.3890T>C (p.Ile1297Thr) c.2966T>C (p.Ile989Thr) n.4104T>C c.3863T>C (p.Ile1288Thr) c.2939T>C (p.Ile980Thr) n.4086T>C | dbSNP gnomAD v2 gnomAD v4 |
18 | g.45910722A>T | CA402340288 | EPG5 | n.2188T>A c.4004T>A (p.Ile1335Asn) c.3744T>A (n.3744T>A) n.783T>A c.629T>A (p.Ile210Asn) n.4039T>A c.4031T>A (p.Ile1344Asn) c.3890T>A (p.Ile1297Asn) c.2966T>A (p.Ile989Asn) n.4104T>A c.3863T>A (p.Ile1288Asn) c.2939T>A (p.Ile980Asn) n.4086T>A | |
18 | g.45910723T>A | CA402340289 | EPG5 | n.2187A>T c.4003A>T (p.Ile1335Phe) c.3743A>T (n.3743A>T) n.782A>T c.628A>T (p.Ile210Phe) n.4038A>T c.4030A>T (p.Ile1344Phe) c.3889A>T (p.Ile1297Phe) c.2965A>T (p.Ile989Phe) n.4103A>T c.3862A>T (p.Ile1288Phe) c.2938A>T (p.Ile980Phe) n.4085A>T | |
18 | g.45910723T>C | CA402340291 | EPG5 | n.2187A>G c.4003A>G (p.Ile1335Val) c.3743A>G (n.3743A>G) n.782A>G c.628A>G (p.Ile210Val) n.4038A>G c.4030A>G (p.Ile1344Val) c.3889A>G (p.Ile1297Val) c.2965A>G (p.Ile989Val) n.4103A>G c.3862A>G (p.Ile1288Val) c.2938A>G (p.Ile980Val) n.4085A>G | gnomAD v4 |
18 | g.45910723T>G | CA402340290 | EPG5 | n.2187A>C c.4003A>C (p.Ile1335Leu) c.3743A>C (n.3743A>C) n.782A>C c.628A>C (p.Ile210Leu) n.4038A>C c.4030A>C (p.Ile1344Leu) c.3889A>C (p.Ile1297Leu) c.2965A>C (p.Ile989Leu) n.4103A>C c.3862A>C (p.Ile1288Leu) c.2938A>C (p.Ile980Leu) n.4085A>C | |
18 | g.45910724A>C | CA402340292 | EPG5 | n.2186T>G c.4002T>G (p.Cys1334Trp) c.3742T>G (n.3742T>G) n.781T>G c.627T>G (p.Cys209Trp) n.4037T>G c.4029T>G (p.Cys1343Trp) c.3888T>G (p.Cys1296Trp) c.2964T>G (p.Cys988Trp) n.4102T>G c.3861T>G (p.Cys1287Trp) c.2937T>G (p.Cys979Trp) n.4084T>G | |
18 | g.45910724A>G | CA503793878 | EPG5 | n.2186T>C c.4002T>C (p.Cys1334=) c.3742T>C (n.3742T>C) n.781T>C c.627T>C (p.Cys209=) n.4037T>C c.4029T>C (p.Cys1343=) c.3888T>C (p.Cys1296=) c.2964T>C (p.Cys988=) n.4102T>C c.3861T>C (p.Cys1287=) c.2937T>C (p.Cys979=) n.4084T>C | gnomAD v4 |
18 | g.45910724A>T | CA402340293 | EPG5 | n.2186T>A c.4002T>A (p.Cys1334Ter) c.3742T>A (n.3742T>A) n.781T>A c.627T>A (p.Cys209Ter) n.4037T>A c.4029T>A (p.Cys1343Ter) c.3888T>A (p.Cys1296Ter) c.2964T>A (p.Cys988Ter) n.4102T>A c.3861T>A (p.Cys1287Ter) c.2937T>A (p.Cys979Ter) n.4084T>A | |
18 | g.45910725C>A | CA402340294 | EPG5 | n.2185G>T c.4001G>T (p.Cys1334Phe) c.3741G>T (n.3741G>T) n.780G>T c.626G>T (p.Cys209Phe) n.4036G>T c.4028G>T (p.Cys1343Phe) c.3887G>T (p.Cys1296Phe) c.2963G>T (p.Cys988Phe) n.4101G>T c.3860G>T (p.Cys1287Phe) c.2936G>T (p.Cys979Phe) n.4083G>T | |
18 | g.45910725C= | CA2300590930 | EPG5 | n.2185G= c.4001G= (p.Cys1334=) c.3741G= (n.3741G=) n.780G= c.626G= (p.Cys209=) n.4036G= c.4028G= (p.Cys1343=) c.3887G= (p.Cys1296=) c.2963G= (p.Cys988=) n.4101G= c.3860G= (p.Cys1287=) c.2936G= (p.Cys979=) n.4083G= | |
18 | g.45910725C>G | CA299760495 | EPG5 | n.2185G>C c.4001G>C (p.Cys1334Ser) c.3741G>C (n.3741G>C) n.780G>C c.626G>C (p.Cys209Ser) n.4036G>C c.4028G>C (p.Cys1343Ser) c.3887G>C (p.Cys1296Ser) c.2963G>C (p.Cys988Ser) n.4101G>C c.3860G>C (p.Cys1287Ser) c.2936G>C (p.Cys979Ser) n.4083G>C | ClinVar dbSNP gnomAD v4 |
18 | g.45910725C>T | CA402340295 | EPG5 | n.2185G>A c.4001G>A (p.Cys1334Tyr) c.3741G>A (n.3741G>A) n.780G>A c.626G>A (p.Cys209Tyr) n.4036G>A c.4028G>A (p.Cys1343Tyr) c.3887G>A (p.Cys1296Tyr) c.2963G>A (p.Cys988Tyr) n.4101G>A c.3860G>A (p.Cys1287Tyr) c.2936G>A (p.Cys979Tyr) n.4083G>A | gnomAD v4 |
18 | g.45910726A>C | CA402340296 | EPG5 | n.2184T>G c.4000T>G (p.Cys1334Gly) c.3740T>G (n.3740T>G) n.779T>G c.625T>G (p.Cys209Gly) n.4035T>G c.4027T>G (p.Cys1343Gly) c.3886T>G (p.Cys1296Gly) c.2962T>G (p.Cys988Gly) n.4100T>G c.3859T>G (p.Cys1287Gly) c.2935T>G (p.Cys979Gly) n.4082T>G | gnomAD v4 |
18 | g.45910726A>G | CA402340297 | EPG5 | n.2184T>C c.4000T>C (p.Cys1334Arg) c.3740T>C (n.3740T>C) n.779T>C c.625T>C (p.Cys209Arg) n.4035T>C c.4027T>C (p.Cys1343Arg) c.3886T>C (p.Cys1296Arg) c.2962T>C (p.Cys988Arg) n.4100T>C c.3859T>C (p.Cys1287Arg) c.2935T>C (p.Cys979Arg) n.4082T>C | |
18 | g.45910726A>T | CA402340298 | EPG5 | n.2184T>A c.4000T>A (p.Cys1334Ser) c.3740T>A (n.3740T>A) n.779T>A c.625T>A (p.Cys209Ser) n.4035T>A c.4027T>A (p.Cys1343Ser) c.3886T>A (p.Cys1296Ser) c.2962T>A (p.Cys988Ser) n.4100T>A c.3859T>A (p.Cys1287Ser) c.2935T>A (p.Cys979Ser) n.4082T>A | |
18 | g.45910727A= | CA2300590931 | EPG5 | n.2183T= c.3999T= (p.Gly1333=) c.3739T= (n.3739T=) n.778T= c.624T= (p.Gly208=) n.4034T= c.4026T= (p.Gly1342=) c.3885T= (p.Gly1295=) c.2961T= (p.Gly987=) n.4099T= c.3858T= (p.Gly1286=) c.2934T= (p.Gly978=) n.4081T= | |
18 | g.45910727A>C | CA8949002 | EPG5 | n.2183T>G c.3999T>G (p.Gly1333=) c.3739T>G (n.3739T>G) n.778T>G c.624T>G (p.Gly208=) n.4034T>G c.4026T>G (p.Gly1342=) c.3885T>G (p.Gly1295=) c.2961T>G (p.Gly987=) n.4099T>G c.3858T>G (p.Gly1286=) c.2934T>G (p.Gly978=) n.4081T>G | dbSNP ExAC gnomAD v2 |
18 | g.45910727A>G | CA503793886 | EPG5 | n.2183T>C c.3999T>C (p.Gly1333=) c.3739T>C (n.3739T>C) n.778T>C c.624T>C (p.Gly208=) n.4034T>C c.4026T>C (p.Gly1342=) c.3885T>C (p.Gly1295=) c.2961T>C (p.Gly987=) n.4099T>C c.3858T>C (p.Gly1286=) c.2934T>C (p.Gly978=) n.4081T>C | ClinVar dbSNP gnomAD v4 |
18 | g.45910727A>T | CA503793885 | EPG5 | n.2183T>A c.3999T>A (p.Gly1333=) c.3739T>A (n.3739T>A) n.778T>A c.624T>A (p.Gly208=) n.4034T>A c.4026T>A (p.Gly1342=) c.3885T>A (p.Gly1295=) c.2961T>A (p.Gly987=) n.4099T>A c.3858T>A (p.Gly1286=) c.2934T>A (p.Gly978=) n.4081T>A |