Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.45910633C>ACA402340087EPG5n.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
18g.45910633C=CA2300590887EPG5n.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=
18g.45910633C>GCA402340088EPG5n.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
18g.45910633C>TCA402340089EPG5n.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
18g.45910634A>CCA402340091EPG5n.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
18g.45910634A>GCA503793759EPG5n.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
18g.45910634A>TCA402340090EPG5n.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
18g.45910635T>ACA402340092EPG5n.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
18g.45910635T>CCA8948984EPG5n.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
18g.45910635T>GCA402340093EPG5n.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
18g.45910635T=CA2300590888EPG5n.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=
18g.45910636G>ACA402340094EPG5n.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
18g.45910636G>CCA402340095EPG5n.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
18g.45910636G>TCA402340096EPG5n.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
18g.45910637G>ACA8948985EPG5n.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
18g.45910637G>CCA402340097EPG5n.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
18g.45910637G=CA2300590889EPG5n.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=
18g.45910637G>TCA402340098EPG5n.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
18g.45910638T>ACA402340099EPG5n.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
18g.45910638T>CCA402340100EPG5n.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
18g.45910638T>GCA402340101EPG5n.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
18g.45910639G>ACA402340103EPG5n.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
18g.45910639G>CCA402340102EPG5n.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
18g.45910639G=CA2300590890EPG5n.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=
18g.45910639G>TCA299760431EPG5n.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
18g.45910640G>ACA503793763EPG5n.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
18g.45910640G>CCA299760432EPG5n.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
18g.45910640G=CA2300590891EPG5n.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=
18g.45910640G>TCA402340104EPG5n.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
18g.45910641A>CCA402340105EPG5n.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
18g.45910641A>GCA402340106EPG5n.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
18g.45910641A>TCA402340107EPG5n.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
18g.45910642A>CCA402340108EPG5n.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
18g.45910642A>GCA402340109EPG5n.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
18g.45910642A>TCA402340110EPG5n.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
18g.45910643G>ACA503793766EPG5n.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
18g.45910643G>CCA402340111EPG5n.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
18g.45910643G>TCA402340112EPG5n.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
18g.45910644T>ACA402340113EPG5n.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
18g.45910644T>CCA402340114EPG5n.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
18g.45910644T>GCA402340115EPG5n.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
18g.45910645C>ACA402340118EPG5n.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
18g.45910645C=CA2300590892EPG5n.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=
18g.45910645C>GCA402340117EPG5n.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
18g.45910645C>TCA402340116EPG5n.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
18g.45910646A=CA2300590893EPG5n.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=
18g.45910646A>CCA503793770EPG5n.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
18g.45910646A>GCA8948986EPG5n.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
18g.45910646A>TCA503793771EPG5n.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
18g.45910647G>ACA402340119EPG5n.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
18g.45910647G>CCA402340120EPG5n.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
18g.45910647G>TCA402340121EPG5n.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
18g.45910648C>ACA402340122EPG5n.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
18g.45910648C=CA2300590894EPG5n.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=
18g.45910648C>GCA402340123EPG5n.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
18g.45910648C>TCA402340124EPG5n.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
18g.45910649C>ACA503793772EPG5n.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
18g.45910649C>GCA503793774EPG5n.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
18g.45910649C>TCA503793776EPG5n.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
18g.45910650A>CCA402340127EPG5n.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
18g.45910650A>GCA402340126EPG5n.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
18g.45910650A>TCA402340125EPG5n.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
18g.45910651C>ACA402340128EPG5n.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
18g.45910651C>GCA402340129EPG5n.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
18g.45910651C>TCA402340130EPG5n.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
18g.45910652C>ACA402340131EPG5n.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
18g.45910652C=CA2300590895EPG5n.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=
18g.45910652C>GCA402340132EPG5n.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
18g.45910652C>TCA8948987EPG5n.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
18g.45910653T>ACA402340133EPG5n.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
18g.45910653T>CCA402340135EPG5n.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
18g.45910653T>GCA402340134EPG5n.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
18g.45910654delCA2641629290EPG5n.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
18g.45910654C>ACA402340136EPG5n.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
18g.45910654C=CA2300590896EPG5n.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=
18g.45910654C>GCA8948988EPG5n.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
18g.45910654C>TCA249026EPG5n.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
18g.45910655G>ACA8948989EPG5n.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
18g.45910655G>CCA503793780EPG5n.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
18g.45910655G=CA2300590897EPG5n.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=
18g.45910655G>TCA503793781EPG5n.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
18g.45910656G>ACA402340137EPG5n.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
18g.45910656G>CCA402340138EPG5n.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
18g.45910656G>TCA402340139EPG5n.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
18g.45910657T>ACA402340140EPG5n.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
18g.45910657T>CCA402340141EPG5n.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
18g.45910657T>GCA299760449EPG5n.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
18g.45910657T=CA2300590898EPG5n.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=
18g.45910658C>ACA402340142EPG5n.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
18g.45910658C=CA2300590899EPG5n.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=
18g.45910658C>GCA402340143EPG5n.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
18g.45910658C>TCA503793785EPG5n.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
18g.45910659A>CCA402340144EPG5n.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
18g.45910659A>GCA402340146EPG5n.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
18g.45910659A>TCA402340145EPG5n.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
18g.45910660A=CA2300590900EPG5n.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=
18g.45910660A>CCA402340147EPG5n.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
18g.45910660A>GCA503793788EPG5n.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
18g.45910660A>TCA402340148EPG5n.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
18g.45910661A>CCA503793789EPG5n.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
18g.45910661A>GCA503793790EPG5n.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
18g.45910661A>TCA503793792EPG5n.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
18g.45910662C>ACA402340149EPG5n.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
18g.45910662C=CA2300590901EPG5n.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=
18g.45910662C>GCA402340150EPG5n.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
18g.45910662C>TCA8948990EPG5n.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
18g.45910663G>ACA402340151EPG5n.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
18g.45910663G>CCA402340152EPG5n.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
18g.45910663G>TCA402340153EPG5n.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
18g.45910664T>ACA402340154EPG5n.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
18g.45910664T>CCA8948991EPG5n.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
18g.45910664T>GCA402340155EPG5n.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
18g.45910664T=CA2300590902EPG5n.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=
18g.45910665C>ACA402340158EPG5n.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
18g.45910665C>GCA402340157EPG5n.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
18g.45910665C>TCA402340156EPG5n.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
18g.45910666T>ACA402340159EPG5n.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
18g.45910666T>CCA402340160EPG5n.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
18g.45910666T>GCA503793795EPG5n.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
18g.45910667C>ACA402340161EPG5n.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
18g.45910667C>GCA402340162EPG5n.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
18g.45910667C>TCA503793798EPG5n.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
18g.45910668T>ACA402340163EPG5n.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
18g.45910668T>CCA8948992EPG5n.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
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910668T>GCA402340164EPG5n.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
18g.45910668T=CA2300590903EPG5n.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=
18g.45910669T>ACA402340165EPG5n.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
18g.45910669T>CCA402340166EPG5n.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
18g.45910669T>GCA402340167EPG5n.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
18g.45910670C>ACA402340168EPG5n.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
18g.45910670C>GCA402340169EPG5n.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
18g.45910670C>TCA402340170EPG5n.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
18g.45910671A=CA2300590904EPG5n.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=
18g.45910671A>CCA402340172EPG5n.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
18g.45910671A>GCA402340173EPG5n.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
18g.45910671A>TCA402340171EPG5n.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
18g.45910672T>ACA402340174EPG5n.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
18g.45910672T>CCA402340176EPG5n.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
18g.45910672T>GCA402340175EPG5n.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
18g.45910672T=CA2300590905EPG5n.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=
18g.45910673T>ACA402340177EPG5n.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
18g.45910673T>CCA503793804EPG5n.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
18g.45910673T>GCA402340178EPG5n.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
18g.45910673T=CA2300590906EPG5n.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=
18g.45910674T>ACA402340179EPG5n.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
18g.45910674T>CCA402340180EPG5n.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
18g.45910674T>GCA402340181EPG5n.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
18g.45910675C>ACA402340182EPG5n.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
18g.45910675C>GCA402340183EPG5n.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
18g.45910675C>TCA402340184EPG5n.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
18g.45910676T>ACA402340185EPG5n.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
18g.45910676T>CCA503793807EPG5n.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
18g.45910676T>GCA402340186EPG5n.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
18g.45910677T>ACA402340187EPG5n.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
18g.45910677T>CCA402340188EPG5n.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
18g.45910677T>GCA402340189EPG5n.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
18g.45910678T>ACA402340192EPG5n.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
18g.45910678T>CCA402340190EPG5n.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
18g.45910678T>GCA402340191EPG5n.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
18g.45910679C>ACA402340193EPG5n.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
18g.45910679C=CA2300590907EPG5n.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=
18g.45910679C>GCA402340194EPG5n.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
18g.45910679C>TCA503793809EPG5n.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
18g.45910680A>CCA402340195EPG5n.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
18g.45910680A>GCA402340196EPG5n.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
18g.45910680A>TCA402340197EPG5n.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
18g.45910681A=CA2300590908EPG5n.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=
18g.45910681A>CCA402340198EPG5n.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
18g.45910681A>GCA503793811EPG5n.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
18g.45910681A>TCA402340199EPG5n.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
18g.45910682C>ACA402340200EPG5n.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
18g.45910682C>GCA402340201EPG5n.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
18g.45910682C>TCA503793812EPG5n.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
18g.45910683A>CCA402340202EPG5n.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
18g.45910683A>GCA402340203EPG5n.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
18g.45910683A>TCA402340204EPG5n.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
18g.45910684A>CCA402340205EPG5n.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
18g.45910684A>GCA503793815EPG5n.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
18g.45910684A>TCA402340206EPG5n.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
18g.45910685A>CCA402340207EPG5n.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
18g.45910685A>GCA503793817EPG5n.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
18g.45910685A>TCA402340208EPG5n.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
18g.45910686T>ACA402340209EPG5n.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
18g.45910686T>CCA8948993EPG5n.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
18g.45910686T>GCA402340210EPG5n.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
18g.45910686T=CA2300590909EPG5n.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=
18g.45910687T>ACA402340211EPG5n.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
18g.45910687T>CCA402340212EPG5n.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
18g.45910687T>GCA358108EPG5n.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
18g.45910687T=CA2300590910EPG5n.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=
18g.45910688G>ACA503793818EPG5n.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
18g.45910688G>CCA402340213EPG5n.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
18g.45910688G>TCA503793820EPG5n.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
18g.45910689A=CA2300590911EPG5n.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=
18g.45910689A>CCA402340214EPG5n.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
18g.45910689A>GCA8948995EPG5n.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
18g.45910689A>TCA8948994EPG5n.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
18g.45910690T>ACA402340215EPG5n.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
18g.45910690T>CCA402340216EPG5n.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
18g.45910690T>GCA402340217EPG5n.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
18g.45910691A=CA2300590912EPG5n.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=
18g.45910691A>CCA402340218EPG5n.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
18g.45910691A>GCA503793822EPG5n.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
18g.45910691A>TCA402340219EPG5n.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
18g.45910692T>ACA402340220EPG5n.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
18g.45910692T>CCA8948996EPG5n.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
18g.45910692T>GCA402340221EPG5n.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
18g.45910692T=CA2300590913EPG5n.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=
18g.45910693G>ACA402340222EPG5n.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
18g.45910693G>CCA402340223EPG5n.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
18g.45910693G=CA2300590914EPG5n.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=
18g.45910693G>TCA402340224EPG5n.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
18g.45910694A>CCA503793824EPG5n.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
18g.45910694A>GCA503793825EPG5n.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
18g.45910694A>TCA503793827EPG5n.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
18g.45910695G>ACA402340225EPG5n.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
18g.45910695G>CCA402340226EPG5n.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
18g.45910695G=CA2300590915EPG5n.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=
18g.45910695G>TCA402340227EPG5n.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
18g.45910696C>ACA402340228EPG5n.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
18g.45910696C=CA2300590916EPG5n.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=
18g.45910696C>GCA8948997EPG5n.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
18g.45910696C>TCA402340229EPG5n.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
18g.45910697A>CCA503793830EPG5n.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
18g.45910697A>GCA503793833EPG5n.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
18g.45910697A>TCA503793834EPG5n.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
18g.45910698G>ACA402340232EPG5n.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
18g.45910698G>CCA402340230EPG5n.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
18g.45910698G=CA2300590917EPG5n.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=
18g.45910698G>TCA402340231EPG5n.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
18g.45910699G>ACA402340233EPG5n.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
18g.45910699G>CCA402340234EPG5n.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
18g.45910699G=CA2300590918EPG5n.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=
18g.45910699G>TCA402340235EPG5n.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
18g.45910700A=CA2300590919EPG5n.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=
18g.45910700A>CCA402340236EPG5n.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
18g.45910700A>GCA503793838EPG5n.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
18g.45910700A>TCA402340237EPG5n.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
18g.45910701C>ACA402340240EPG5n.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
18g.45910701C=CA2300590920EPG5n.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=
18g.45910701C>GCA402340239EPG5n.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
18g.45910701C>TCA402340238EPG5n.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
18g.45910702T>ACA402340241EPG5n.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
18g.45910702T>CCA402340242EPG5n.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
18g.45910702T>GCA402340243EPG5n.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
18g.45910703T>ACA402340244EPG5n.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
18g.45910703T>CCA8948998EPG5n.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
18g.45910703T>GCA402340245EPG5n.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
18g.45910703T=CA2300590921EPG5n.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=
18g.45910704T>ACA402340248EPG5n.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
18g.45910704T>CCA402340246EPG5n.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
18g.45910704T>GCA402340247EPG5n.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
18g.45910705G>ACA402340249EPG5n.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
18g.45910705G>CCA402340250EPG5n.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
18g.45910705G>TCA402340251EPG5n.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
18g.45910706A>CCA402340252EPG5n.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
18g.45910706A>GCA503793848EPG5n.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
18g.45910706A>TCA402340253EPG5n.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
18g.45910711dupCA2573155342EPG5n.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
18g.45910707_45910734delCA2812342751EPG5n.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
18g.45910707A>CCA402340254EPG5n.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
18g.45910707A>GCA402340255EPG5n.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
18g.45910707A>TCA402340256EPG5n.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
18g.45910708A>CCA402340257EPG5n.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
18g.45910708A>GCA402340258EPG5n.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
18g.45910708A>TCA402340259EPG5n.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
18g.45910709A>CCA402340260EPG5n.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
18g.45910709A>GCA503793856EPG5n.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
18g.45910709A>TCA402340261EPG5n.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
18g.45910710A=CA2300590922EPG5n.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=
18g.45910710A>CCA402340262EPG5n.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
18g.45910710A>GCA402340263EPG5n.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
18g.45910710A>TCA8948999EPG5n.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
18g.45910711A>CCA402340264EPG5n.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
18g.45910711A>GCA402340265EPG5n.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
18g.45910711A>TCA402340266EPG5n.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
18g.45910712C>ACA8949001EPG5n.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
18g.45910712C=CA2300590923EPG5n.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=
18g.45910712C>GCA8949000EPG5n.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
18g.45910712C>TCA503793862EPG5n.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
18g.45910712_45910715delinsCCTTCA2300590924EPG5n.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
18g.45910713C>ACA402340267EPG5n.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
18g.45910713C=CA2300590925EPG5n.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=
18g.45910713C>GCA402340268EPG5n.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
18g.45910713C>TCA402340269EPG5n.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
18g.45910717_45910719delCA299760493EPG5n.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
18g.45910714T>ACA402340270EPG5n.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
18g.45910714T>CCA402340271EPG5n.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
18g.45910714T>GCA503793864EPG5n.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
18g.45910715T>ACA402340272EPG5n.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
18g.45910715T>CCA503793865EPG5n.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
18g.45910715T>GCA402340273EPG5n.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
18g.45910716C>ACA402340276EPG5n.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
18g.45910716C>GCA402340275EPG5n.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
18g.45910716C>TCA402340274EPG5n.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
18g.45910717T>ACA402340277EPG5n.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
18g.45910717T>CCA402340278EPG5n.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
18g.45910717T>GCA503793868EPG5n.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
18g.45910717T=CA2300590926EPG5n.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=
18g.45910718T>ACA503793872EPG5n.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
18g.45910718T>CCA503793873EPG5n.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
18g.45910718T>GCA503793874EPG5n.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
18g.45910719C>ACA402340279EPG5n.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
18g.45910719C=CA2300590927EPG5n.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=
18g.45910719C>GCA402340280EPG5n.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
18g.45910719C>TCA402340281EPG5n.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
18g.45910720C>ACA402340282EPG5n.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
18g.45910720C>GCA402340283EPG5n.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
18g.45910720C>TCA402340284EPG5n.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
18g.45910721A=CA2300590928EPG5n.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=
18g.45910721A>CCA402340285EPG5n.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
18g.45910721A>GCA503793875EPG5n.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
18g.45910721A>TCA503793876EPG5n.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
18g.45910722A=CA2300590929EPG5n.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=
18g.45910722A>CCA402340286EPG5n.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
18g.45910722A>GCA402340287EPG5n.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
18g.45910722A>TCA402340288EPG5n.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
18g.45910723T>ACA402340289EPG5n.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
18g.45910723T>CCA402340291EPG5n.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
18g.45910723T>GCA402340290EPG5n.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
18g.45910724A>CCA402340292EPG5n.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
18g.45910724A>GCA503793878EPG5n.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
18g.45910724A>TCA402340293EPG5n.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
18g.45910725C>ACA402340294EPG5n.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
18g.45910725C=CA2300590930EPG5n.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=
18g.45910725C>GCA299760495EPG5n.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
18g.45910725C>TCA402340295EPG5n.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
18g.45910726A>CCA402340296EPG5n.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
18g.45910726A>GCA402340297EPG5n.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
18g.45910726A>TCA402340298EPG5n.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
18g.45910727A=CA2300590931EPG5n.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=
18g.45910727A>CCA8949002EPG5n.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
18g.45910727A>GCA503793886EPG5n.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
18g.45910727A>TCA503793885EPG5n.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
18g.45910728C>ACA402340299EPG5n.2182G>T
c.3998G>T (p.Gly1333Val)
c.3738G>T (n.3738G>T)
n.777G>T
c.623G>T (p.Gly208Val)
n.4033G>T
c.4025G>T (p.Gly1342Val)
c.3884G>T (p.Gly1295Val)
c.2960G>T (p.Gly987Val)
n.4098G>T
c.3857G>T (p.Gly1286Val)
c.2933G>T (p.Gly978Val)
n.4080G>T
 COSMIC
18g.45910728C=CA2300590932EPG5n.2182G=
c.3998G= (p.Gly1333=)
c.3738G= (n.3738G=)
n.777G=
c.623G= (p.Gly208=)
n.4033G=
c.4025G= (p.Gly1342=)
c.3884G= (p.Gly1295=)
c.2960G= (p.Gly987=)
n.4098G=
c.3857G= (p.Gly1286=)
c.2933G= (p.Gly978=)
n.4080G=
18g.45910728C>GCA402340300EPG5n.2182G>C
c.3998G>C (p.Gly1333Ala)
c.3738G>C (n.3738G>C)
n.777G>C
c.623G>C (p.Gly208Ala)
n.4033G>C
c.4025G>C (p.Gly1342Ala)
c.3884G>C (p.Gly1295Ala)
c.2960G>C (p.Gly987Ala)
n.4098G>C
c.3857G>C (p.Gly1286Ala)
c.2933G>C (p.Gly978Ala)
n.4080G>C
18g.45910728C>TCA402340301EPG5n.2182G>A
c.3998G>A (p.Gly1333Asp)
c.3738G>A (n.3738G>A)
n.777G>A
c.623G>A (p.Gly208Asp)
n.4033G>A
c.4025G>A (p.Gly1342Asp)
c.3884G>A (p.Gly1295Asp)
c.2960G>A (p.Gly987Asp)
n.4098G>A
c.3857G>A (p.Gly1286Asp)
c.2933G>A (p.Gly978Asp)
n.4080G>A
 dbSNP gnomAD v2 gnomAD v4
18g.45910729C>ACA402340302EPG5n.2181G>T
c.3997G>T (p.Gly1333Cys)
c.3737G>T (n.3737G>T)
n.776G>T
c.622G>T (p.Gly208Cys)
n.4032G>T
c.4024G>T (p.Gly1342Cys)
c.3883G>T (p.Gly1295Cys)
c.2959G>T (p.Gly987Cys)
n.4097G>T
c.3856G>T (p.Gly1286Cys)
c.2932G>T (p.Gly978Cys)
n.4079G>T
18g.45910729C>GCA402340303EPG5n.2181G>C
c.3997G>C (p.Gly1333Arg)
c.3737G>C (n.3737G>C)
n.776G>C
c.622G>C (p.Gly208Arg)
n.4032G>C
c.4024G>C (p.Gly1342Arg)
c.3883G>C (p.Gly1295Arg)
c.2959G>C (p.Gly987Arg)
n.4097G>C
c.3856G>C (p.Gly1286Arg)
c.2932G>C (p.Gly978Arg)
n.4079G>C
18g.45910729C>TCA402340304EPG5n.2181G>A
c.3997G>A (p.Gly1333Ser)
c.3737G>A (n.3737G>A)
n.776G>A
c.622G>A (p.Gly208Ser)
n.4032G>A
c.4024G>A (p.Gly1342Ser)
c.3883G>A (p.Gly1295Ser)
c.2959G>A (p.Gly987Ser)
n.4097G>A
c.3856G>A (p.Gly1286Ser)
c.2932G>A (p.Gly978Ser)
n.4079G>A
18g.45910730A>CCA402340305EPG5n.2180T>G
c.3996T>G (p.Asp1332Glu)
c.3736T>G (n.3736T>G)
n.775T>G
c.621T>G (p.Asp207Glu)
n.4031T>G
c.4023T>G (p.Asp1341Glu)
c.3882T>G (p.Asp1294Glu)
c.2958T>G (p.Asp986Glu)
n.4096T>G
c.3855T>G (p.Asp1285Glu)
c.2931T>G (p.Asp977Glu)
n.4078T>G
18g.45910730A>GCA503793890EPG5n.2180T>C
c.3996T>C (p.Asp1332=)
c.3736T>C (n.3736T>C)
n.775T>C
c.621T>C (p.Asp207=)
n.4031T>C
c.4023T>C (p.Asp1341=)
c.3882T>C (p.Asp1294=)
c.2958T>C (p.Asp986=)
n.4096T>C
c.3855T>C (p.Asp1285=)
c.2931T>C (p.Asp977=)
n.4078T>C
18g.45910730A>TCA402340306EPG5n.2180T>A
c.3996T>A (p.Asp1332Glu)
c.3736T>A (n.3736T>A)
n.775T>A
c.621T>A (p.Asp207Glu)
n.4031T>A
c.4023T>A (p.Asp1341Glu)
c.3882T>A (p.Asp1294Glu)
c.2958T>A (p.Asp986Glu)
n.4096T>A
c.3855T>A (p.Asp1285Glu)
c.2931T>A (p.Asp977Glu)
n.4078T>A
 gnomAD v4
18g.45910731T>ACA402340309EPG5n.2179A>T
c.3995A>T (p.Asp1332Val)
c.3735A>T (n.3735A>T)
n.774A>T
c.620A>T (p.Asp207Val)
n.4030A>T
c.4022A>T (p.Asp1341Val)
c.3881A>T (p.Asp1294Val)
c.2957A>T (p.Asp986Val)
n.4095A>T
c.3854A>T (p.Asp1285Val)
c.2930A>T (p.Asp977Val)
n.4077A>T
18g.45910731T>CCA402340307EPG5n.2179A>G
c.3995A>G (p.Asp1332Gly)
c.3735A>G (n.3735A>G)
n.774A>G
c.620A>G (p.Asp207Gly)
n.4030A>G
c.4022A>G (p.Asp1341Gly)
c.3881A>G (p.Asp1294Gly)
c.2957A>G (p.Asp986Gly)
n.4095A>G
c.3854A>G (p.Asp1285Gly)
c.2930A>G (p.Asp977Gly)
n.4077A>G
18g.45910731T>GCA402340308EPG5n.2179A>C
c.3995A>C (p.Asp1332Ala)
c.3735A>C (n.3735A>C)
n.774A>C
c.620A>C (p.Asp207Ala)
n.4030A>C
c.4022A>C (p.Asp1341Ala)
c.3881A>C (p.Asp1294Ala)
c.2957A>C (p.Asp986Ala)
n.4095A>C
c.3854A>C (p.Asp1285Ala)
c.2930A>C (p.Asp977Ala)
n.4077A>C
18g.45910732C>ACA402340310EPG5n.2178G>T
c.3994G>T (p.Asp1332Tyr)
c.3734G>T (n.3734G>T)
n.773G>T
c.619G>T (p.Asp207Tyr)
n.4029G>T
c.4021G>T (p.Asp1341Tyr)
c.3880G>T (p.Asp1294Tyr)
c.2956G>T (p.Asp986Tyr)
n.4094G>T
c.3853G>T (p.Asp1285Tyr)
c.2929G>T (p.Asp977Tyr)
n.4076G>T
18g.45910732C>GCA402340311EPG5n.2178G>C
c.3994G>C (p.Asp1332His)
c.3734G>C (n.3734G>C)
n.773G>C
c.619G>C (p.Asp207His)
n.4029G>C
c.4021G>C (p.Asp1341His)
c.3880G>C (p.Asp1294His)
c.2956G>C (p.Asp986His)
n.4094G>C
c.3853G>C (p.Asp1285His)
c.2929G>C (p.Asp977His)
n.4076G>C
18g.45910732C>TCA402340312EPG5n.2178G>A
c.3994G>A (p.Asp1332Asn)
c.3734G>A (n.3734G>A)
n.773G>A
c.619G>A (p.Asp207Asn)
n.4029G>A
c.4021G>A (p.Asp1341Asn)
c.3880G>A (p.Asp1294Asn)
c.2956G>A (p.Asp986Asn)
n.4094G>A
c.3853G>A (p.Asp1285Asn)
c.2929G>A (p.Asp977Asn)
n.4076G>A
 ClinVar
18g.45910733T>ACA503793894EPG5n.2177A>T
c.3993A>T (p.Ile1331=)
c.3733A>T (n.3733A>T)
n.772A>T
c.618A>T (p.Ile206=)
n.4028A>T
c.4020A>T (p.Ile1340=)
c.3879A>T (p.Ile1293=)
c.2955A>T (p.Ile985=)
n.4093A>T
c.3852A>T (p.Ile1284=)
c.2928A>T (p.Ile976=)
n.4075A>T
18g.45910733T>CCA402340313EPG5n.2177A>G
c.3993A>G (p.Ile1331Met)
c.3733A>G (n.3733A>G)
n.772A>G
c.618A>G (p.Ile206Met)
n.4028A>G
c.4020A>G (p.Ile1340Met)
c.3879A>G (p.Ile1293Met)
c.2955A>G (p.Ile985Met)
n.4093A>G
c.3852A>G (p.Ile1284Met)
c.2928A>G (p.Ile976Met)
n.4075A>G
18g.45910733T>GCA503793895EPG5n.2177A>C
c.3993A>C (p.Ile1331=)
c.3733A>C (n.3733A>C)
n.772A>C
c.618A>C (p.Ile206=)
n.4028A>C
c.4020A>C (p.Ile1340=)
c.3879A>C (p.Ile1293=)
c.2955A>C (p.Ile985=)
n.4093A>C
c.3852A>C (p.Ile1284=)
c.2928A>C (p.Ile976=)
n.4075A>C

Number of alleles fetched