Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.45910518_45910544delCA2739268686EPG5n.2368_2389+5del
c.4184_4205+5del
c.3924_3945+5del
n.963_984+5del
c.809_830+5del
n.4219_4240+5del
c.4211_4232+5del
c.4070_4091+5del
c.3146_3167+5del
n.4284_4305+5del
c.4043_4064+5del
c.3119_3140+5del
n.4266_4287+5del
 ClinVar
18g.45910527delCA2641629163EPG5n.2383del
c.4199del (p.Leu1400ArgfsTer2)
c.3939del (n.3939del)
n.978del
c.824del (p.Leu275ArgfsTer2)
n.4234del
c.4226del (p.Leu1409ArgfsTer2)
c.4085del (p.Leu1362ArgfsTer2)
c.3161del (p.Leu1054ArgfsTer2)
n.4299del
c.4058del (p.Leu1353ArgfsTer2)
c.3134del (p.Leu1045ArgfsTer2)
n.4281del
 gnomAD v4
18g.45910527A>CCA402339713EPG5n.2383T>G
c.4199T>G (p.Leu1400Arg)
c.3939T>G (n.3939T>G)
n.978T>G
c.824T>G (p.Leu275Arg)
n.4234T>G
c.4226T>G (p.Leu1409Arg)
c.4085T>G (p.Leu1362Arg)
c.3161T>G (p.Leu1054Arg)
n.4299T>G
c.4058T>G (p.Leu1353Arg)
c.3134T>G (p.Leu1045Arg)
n.4281T>G
18g.45910527A>GCA402339712EPG5n.2383T>C
c.4199T>C (p.Leu1400Pro)
c.3939T>C (n.3939T>C)
n.978T>C
c.824T>C (p.Leu275Pro)
n.4234T>C
c.4226T>C (p.Leu1409Pro)
c.4085T>C (p.Leu1362Pro)
c.3161T>C (p.Leu1054Pro)
n.4299T>C
c.4058T>C (p.Leu1353Pro)
c.3134T>C (p.Leu1045Pro)
n.4281T>C
18g.45910527A>TCA402339710EPG5n.2383T>A
c.4199T>A (p.Leu1400Gln)
c.3939T>A (n.3939T>A)
n.978T>A
c.824T>A (p.Leu275Gln)
n.4234T>A
c.4226T>A (p.Leu1409Gln)
c.4085T>A (p.Leu1362Gln)
c.3161T>A (p.Leu1054Gln)
n.4299T>A
c.4058T>A (p.Leu1353Gln)
c.3134T>A (p.Leu1045Gln)
n.4281T>A
18g.45910528G>ACA503793636EPG5n.2382C>T
c.4198C>T (p.Leu1400=)
c.3938C>T (n.3938C>T)
n.977C>T
c.823C>T (p.Leu275=)
n.4233C>T
c.4225C>T (p.Leu1409=)
c.4084C>T (p.Leu1362=)
c.3160C>T (p.Leu1054=)
n.4298C>T
c.4057C>T (p.Leu1353=)
c.3133C>T (p.Leu1045=)
n.4280C>T
18g.45910528G>CCA402339716EPG5n.2382C>G
c.4198C>G (p.Leu1400Val)
c.3938C>G (n.3938C>G)
n.977C>G
c.823C>G (p.Leu275Val)
n.4233C>G
c.4225C>G (p.Leu1409Val)
c.4084C>G (p.Leu1362Val)
c.3160C>G (p.Leu1054Val)
n.4298C>G
c.4057C>G (p.Leu1353Val)
c.3133C>G (p.Leu1045Val)
n.4280C>G
18g.45910528G>TCA402339718EPG5n.2382C>A
c.4198C>A (p.Leu1400Met)
c.3938C>A (n.3938C>A)
n.977C>A
c.823C>A (p.Leu275Met)
n.4233C>A
c.4225C>A (p.Leu1409Met)
c.4084C>A (p.Leu1362Met)
c.3160C>A (p.Leu1054Met)
n.4298C>A
c.4057C>A (p.Leu1353Met)
c.3133C>A (p.Leu1045Met)
n.4280C>A
18g.45910528_45910529delCA2641629165EPG5n.2381_2382del
c.4197_4198del (p.Glu1399AspfsTer15)
c.3937_3938del (n.3937_3938del)
n.976_977del
c.822_823del (p.Glu274AspfsTer15)
n.4232_4233del
c.4224_4225del (p.Glu1408AspfsTer15)
c.4083_4084del (p.Glu1361AspfsTer15)
c.3159_3160del (p.Glu1053AspfsTer15)
n.4297_4298del
c.4056_4057del (p.Glu1352AspfsTer15)
c.3132_3133del (p.Glu1044AspfsTer15)
n.4279_4280del
 gnomAD v4
18g.45910529C>ACA402339720EPG5n.2381G>T
c.4197G>T (p.Glu1399Asp)
c.3937G>T (n.3937G>T)
n.976G>T
c.822G>T (p.Glu274Asp)
n.4232G>T
c.4224G>T (p.Glu1408Asp)
c.4083G>T (p.Glu1361Asp)
c.3159G>T (p.Glu1053Asp)
n.4297G>T
c.4056G>T (p.Glu1352Asp)
c.3132G>T (p.Glu1044Asp)
n.4279G>T
18g.45910529C>GCA402339721EPG5n.2381G>C
c.4197G>C (p.Glu1399Asp)
c.3937G>C (n.3937G>C)
n.976G>C
c.822G>C (p.Glu274Asp)
n.4232G>C
c.4224G>C (p.Glu1408Asp)
c.4083G>C (p.Glu1361Asp)
c.3159G>C (p.Glu1053Asp)
n.4297G>C
c.4056G>C (p.Glu1352Asp)
c.3132G>C (p.Glu1044Asp)
n.4279G>C
18g.45910529C>TCA503793637EPG5n.2381G>A
c.4197G>A (p.Glu1399=)
c.3937G>A (n.3937G>A)
n.976G>A
c.822G>A (p.Glu274=)
n.4232G>A
c.4224G>A (p.Glu1408=)
c.4083G>A (p.Glu1361=)
c.3159G>A (p.Glu1053=)
n.4297G>A
c.4056G>A (p.Glu1352=)
c.3132G>A (p.Glu1044=)
n.4279G>A
18g.45910529_45910530insACA2641629172EPG5n.2380_2381insT
c.4196_4197insT (p.Glu1399AspfsTer16)
c.3936_3937insT (n.3936_3937insT)
n.975_976insT
c.821_822insT (p.Glu274AspfsTer16)
n.4231_4232insT
c.4223_4224insT (p.Glu1408AspfsTer16)
c.4082_4083insT (p.Glu1361AspfsTer16)
c.3158_3159insT (p.Glu1053AspfsTer16)
n.4296_4297insT
c.4055_4056insT (p.Glu1352AspfsTer16)
c.3131_3132insT (p.Glu1044AspfsTer16)
n.4278_4279insT
 gnomAD v4
18g.45910530T>ACA402339724EPG5n.2380A>T
c.4196A>T (p.Glu1399Val)
c.3936A>T (n.3936A>T)
n.975A>T
c.821A>T (p.Glu274Val)
n.4231A>T
c.4223A>T (p.Glu1408Val)
c.4082A>T (p.Glu1361Val)
c.3158A>T (p.Glu1053Val)
n.4296A>T
c.4055A>T (p.Glu1352Val)
c.3131A>T (p.Glu1044Val)
n.4278A>T
18g.45910530T>CCA402339725EPG5n.2380A>G
c.4196A>G (p.Glu1399Gly)
c.3936A>G (n.3936A>G)
n.975A>G
c.821A>G (p.Glu274Gly)
n.4231A>G
c.4223A>G (p.Glu1408Gly)
c.4082A>G (p.Glu1361Gly)
c.3158A>G (p.Glu1053Gly)
n.4296A>G
c.4055A>G (p.Glu1352Gly)
c.3131A>G (p.Glu1044Gly)
n.4278A>G
18g.45910530T>GCA402339726EPG5n.2380A>C
c.4196A>C (p.Glu1399Ala)
c.3936A>C (n.3936A>C)
n.975A>C
c.821A>C (p.Glu274Ala)
n.4231A>C
c.4223A>C (p.Glu1408Ala)
c.4082A>C (p.Glu1361Ala)
c.3158A>C (p.Glu1053Ala)
n.4296A>C
c.4055A>C (p.Glu1352Ala)
c.3131A>C (p.Glu1044Ala)
n.4278A>C
18g.45910530_45910531delinsAACA2573155339EPG5n.2379_2380delinsTT
c.4195_4196delinsTT (p.Glu1399Leu)
c.3935_3936delinsTT (n.3935_3936delinsTT)
n.974_975delinsTT
c.820_821delinsTT (p.Glu274Leu)
n.4230_4231delinsTT
c.4222_4223delinsTT (p.Glu1408Leu)
c.4081_4082delinsTT (p.Glu1361Leu)
c.3157_3158delinsTT (p.Glu1053Leu)
n.4295_4296delinsTT
c.4054_4055delinsTT (p.Glu1352Leu)
c.3130_3131delinsTT (p.Glu1044Leu)
n.4277_4278delinsTT
 ClinVar dbSNP
18g.45910531C>ACA402339729EPG5n.2379G>T
c.4195G>T (p.Glu1399Ter)
c.3935G>T (n.3935G>T)
n.974G>T
c.820G>T (p.Glu274Ter)
n.4230G>T
c.4222G>T (p.Glu1408Ter)
c.4081G>T (p.Glu1361Ter)
c.3157G>T (p.Glu1053Ter)
n.4295G>T
c.4054G>T (p.Glu1352Ter)
c.3130G>T (p.Glu1044Ter)
n.4277G>T
 ClinVar dbSNP
18g.45910531C=CA2300590842EPG5n.2379G=
c.4195G= (p.Glu1399=)
c.3935G= (n.3935G=)
n.974G=
c.820G= (p.Glu274=)
n.4230G=
c.4222G= (p.Glu1408=)
c.4081G= (p.Glu1361=)
c.3157G= (p.Glu1053=)
n.4295G=
c.4054G= (p.Glu1352=)
c.3130G= (p.Glu1044=)
n.4277G=
18g.45910531C>GCA402339731EPG5n.2379G>C
c.4195G>C (p.Glu1399Gln)
c.3935G>C (n.3935G>C)
n.974G>C
c.820G>C (p.Glu274Gln)
n.4230G>C
c.4222G>C (p.Glu1408Gln)
c.4081G>C (p.Glu1361Gln)
c.3157G>C (p.Glu1053Gln)
n.4295G>C
c.4054G>C (p.Glu1352Gln)
c.3130G>C (p.Glu1044Gln)
n.4277G>C
18g.45910531C>TCA402339732EPG5n.2379G>A
c.4195G>A (p.Glu1399Lys)
c.3935G>A (n.3935G>A)
n.974G>A
c.820G>A (p.Glu274Lys)
n.4230G>A
c.4222G>A (p.Glu1408Lys)
c.4081G>A (p.Glu1361Lys)
c.3157G>A (p.Glu1053Lys)
n.4295G>A
c.4054G>A (p.Glu1352Lys)
c.3130G>A (p.Glu1044Lys)
n.4277G>A
 gnomAD v4
18g.45910532C>ACA402339734EPG5n.2378G>T
c.4194G>T (p.Lys1398Asn)
c.3934G>T (n.3934G>T)
n.973G>T
c.819G>T (p.Lys273Asn)
n.4229G>T
c.4221G>T (p.Lys1407Asn)
c.4080G>T (p.Lys1360Asn)
c.3156G>T (p.Lys1052Asn)
n.4294G>T
c.4053G>T (p.Lys1351Asn)
c.3129G>T (p.Lys1043Asn)
n.4276G>T
 gnomAD v4
18g.45910532C>GCA402339736EPG5n.2378G>C
c.4194G>C (p.Lys1398Asn)
c.3934G>C (n.3934G>C)
n.973G>C
c.819G>C (p.Lys273Asn)
n.4229G>C
c.4221G>C (p.Lys1407Asn)
c.4080G>C (p.Lys1360Asn)
c.3156G>C (p.Lys1052Asn)
n.4294G>C
c.4053G>C (p.Lys1351Asn)
c.3129G>C (p.Lys1043Asn)
n.4276G>C
18g.45910532C>TCA503793639EPG5n.2378G>A
c.4194G>A (p.Lys1398=)
c.3934G>A (n.3934G>A)
n.973G>A
c.819G>A (p.Lys273=)
n.4229G>A
c.4221G>A (p.Lys1407=)
c.4080G>A (p.Lys1360=)
c.3156G>A (p.Lys1052=)
n.4294G>A
c.4053G>A (p.Lys1351=)
c.3129G>A (p.Lys1043=)
n.4276G>A
18g.45910533T>ACA402339742EPG5n.2377A>T
c.4193A>T (p.Lys1398Met)
c.3933A>T (n.3933A>T)
n.972A>T
c.818A>T (p.Lys273Met)
n.4228A>T
c.4220A>T (p.Lys1407Met)
c.4079A>T (p.Lys1360Met)
c.3155A>T (p.Lys1052Met)
n.4293A>T
c.4052A>T (p.Lys1351Met)
c.3128A>T (p.Lys1043Met)
n.4275A>T
18g.45910533T>CCA402339740EPG5n.2377A>G
c.4193A>G (p.Lys1398Arg)
c.3933A>G (n.3933A>G)
n.972A>G
c.818A>G (p.Lys273Arg)
n.4228A>G
c.4220A>G (p.Lys1407Arg)
c.4079A>G (p.Lys1360Arg)
c.3155A>G (p.Lys1052Arg)
n.4293A>G
c.4052A>G (p.Lys1351Arg)
c.3128A>G (p.Lys1043Arg)
n.4275A>G
18g.45910533T>GCA402339738EPG5n.2377A>C
c.4193A>C (p.Lys1398Thr)
c.3933A>C (n.3933A>C)
n.972A>C
c.818A>C (p.Lys273Thr)
n.4228A>C
c.4220A>C (p.Lys1407Thr)
c.4079A>C (p.Lys1360Thr)
c.3155A>C (p.Lys1052Thr)
n.4293A>C
c.4052A>C (p.Lys1351Thr)
c.3128A>C (p.Lys1043Thr)
n.4275A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.45910533T=CA2300590843EPG5n.2377A=
c.4193A= (p.Lys1398=)
c.3933A= (n.3933A=)
n.972A=
c.818A= (p.Lys273=)
n.4228A=
c.4220A= (p.Lys1407=)
c.4079A= (p.Lys1360=)
c.3155A= (p.Lys1052=)
n.4293A=
c.4052A= (p.Lys1351=)
c.3128A= (p.Lys1043=)
n.4275A=
18g.45910534T>ACA402339745EPG5n.2376A>T
c.4192A>T (p.Lys1398Ter)
c.3932A>T (n.3932A>T)
n.971A>T
c.817A>T (p.Lys273Ter)
n.4227A>T
c.4219A>T (p.Lys1407Ter)
c.4078A>T (p.Lys1360Ter)
c.3154A>T (p.Lys1052Ter)
n.4292A>T
c.4051A>T (p.Lys1351Ter)
c.3127A>T (p.Lys1043Ter)
n.4274A>T
18g.45910534T>CCA402339749EPG5n.2376A>G
c.4192A>G (p.Lys1398Glu)
c.3932A>G (n.3932A>G)
n.971A>G
c.817A>G (p.Lys273Glu)
n.4227A>G
c.4219A>G (p.Lys1407Glu)
c.4078A>G (p.Lys1360Glu)
c.3154A>G (p.Lys1052Glu)
n.4292A>G
c.4051A>G (p.Lys1351Glu)
c.3127A>G (p.Lys1043Glu)
n.4274A>G
 gnomAD v4
18g.45910534T>GCA402339747EPG5n.2376A>C
c.4192A>C (p.Lys1398Gln)
c.3932A>C (n.3932A>C)
n.971A>C
c.817A>C (p.Lys273Gln)
n.4227A>C
c.4219A>C (p.Lys1407Gln)
c.4078A>C (p.Lys1360Gln)
c.3154A>C (p.Lys1052Gln)
n.4292A>C
c.4051A>C (p.Lys1351Gln)
c.3127A>C (p.Lys1043Gln)
n.4274A>C
 gnomAD v4
18g.45910534_45910535insAAAAAATCA2641629188EPG5n.2376_2377insTTTTTTA
c.4192_4193insTTTTTTA (p.Lys1398IlefsTer3)
c.3932_3933insTTTTTTA (n.3932_3933insTTTTTTA)
n.971_972insTTTTTTA
c.817_818insTTTTTTA (p.Lys273IlefsTer3)
n.4227_4228insTTTTTTA
c.4219_4220insTTTTTTA (p.Lys1407IlefsTer3)
c.4078_4079insTTTTTTA (p.Lys1360IlefsTer3)
c.3154_3155insTTTTTTA (p.Lys1052IlefsTer3)
n.4292_4293insTTTTTTA
c.4051_4052insTTTTTTA (p.Lys1351IlefsTer3)
c.3127_3128insTTTTTTA (p.Lys1043IlefsTer3)
n.4274_4275insTTTTTTA
 gnomAD v4
18g.45910535G>ACA8948962EPG5n.2375C>T
c.4191C>T (p.His1397=)
c.3931C>T (n.3931C>T)
n.970C>T
c.816C>T (p.His272=)
n.4226C>T
c.4218C>T (p.His1406=)
c.4077C>T (p.His1359=)
c.3153C>T (p.His1051=)
n.4291C>T
c.4050C>T (p.His1350=)
c.3126C>T (p.His1042=)
n.4273C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910535G>CCA402339752EPG5n.2375C>G
c.4191C>G (p.His1397Gln)
c.3931C>G (n.3931C>G)
n.970C>G
c.816C>G (p.His272Gln)
n.4226C>G
c.4218C>G (p.His1406Gln)
c.4077C>G (p.His1359Gln)
c.3153C>G (p.His1051Gln)
n.4291C>G
c.4050C>G (p.His1350Gln)
c.3126C>G (p.His1042Gln)
n.4273C>G
18g.45910535G=CA2300590844EPG5n.2375C=
c.4191C= (p.His1397=)
c.3931C= (n.3931C=)
n.970C=
c.816C= (p.His272=)
n.4226C=
c.4218C= (p.His1406=)
c.4077C= (p.His1359=)
c.3153C= (p.His1051=)
n.4291C=
c.4050C= (p.His1350=)
c.3126C= (p.His1042=)
n.4273C=
18g.45910535G>TCA402339753EPG5n.2375C>A
c.4191C>A (p.His1397Gln)
c.3931C>A (n.3931C>A)
n.970C>A
c.816C>A (p.His272Gln)
n.4226C>A
c.4218C>A (p.His1406Gln)
c.4077C>A (p.His1359Gln)
c.3153C>A (p.His1051Gln)
n.4291C>A
c.4050C>A (p.His1350Gln)
c.3126C>A (p.His1042Gln)
n.4273C>A
18g.45910536T>ACA402339755EPG5n.2374A>T
c.4190A>T (p.His1397Leu)
c.3930A>T (n.3930A>T)
n.969A>T
c.815A>T (p.His272Leu)
n.4225A>T
c.4217A>T (p.His1406Leu)
c.4076A>T (p.His1359Leu)
c.3152A>T (p.His1051Leu)
n.4290A>T
c.4049A>T (p.His1350Leu)
c.3125A>T (p.His1042Leu)
n.4272A>T
18g.45910536T>CCA8948963EPG5n.2374A>G
c.4190A>G (p.His1397Arg)
c.3930A>G (n.3930A>G)
n.969A>G
c.815A>G (p.His272Arg)
n.4225A>G
c.4217A>G (p.His1406Arg)
c.4076A>G (p.His1359Arg)
c.3152A>G (p.His1051Arg)
n.4290A>G
c.4049A>G (p.His1350Arg)
c.3125A>G (p.His1042Arg)
n.4272A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.45910536T>GCA402339758EPG5n.2374A>C
c.4190A>C (p.His1397Pro)
c.3930A>C (n.3930A>C)
n.969A>C
c.815A>C (p.His272Pro)
n.4225A>C
c.4217A>C (p.His1406Pro)
c.4076A>C (p.His1359Pro)
c.3152A>C (p.His1051Pro)
n.4290A>C
c.4049A>C (p.His1350Pro)
c.3125A>C (p.His1042Pro)
n.4272A>C
 dbSNP gnomAD v4
18g.45910536T=CA2300590845EPG5n.2374A=
c.4190A= (p.His1397=)
c.3930A= (n.3930A=)
n.969A=
c.815A= (p.His272=)
n.4225A=
c.4217A= (p.His1406=)
c.4076A= (p.His1359=)
c.3152A= (p.His1051=)
n.4290A=
c.4049A= (p.His1350=)
c.3125A= (p.His1042=)
n.4272A=
18g.45910537G>ACA402339759EPG5n.2373C>T
c.4189C>T (p.His1397Tyr)
c.3929C>T (n.3929C>T)
n.968C>T
c.814C>T (p.His272Tyr)
n.4224C>T
c.4216C>T (p.His1406Tyr)
c.4075C>T (p.His1359Tyr)
c.3151C>T (p.His1051Tyr)
n.4289C>T
c.4048C>T (p.His1350Tyr)
c.3124C>T (p.His1042Tyr)
n.4271C>T
 gnomAD v4
18g.45910537G>CCA402339761EPG5n.2373C>G
c.4189C>G (p.His1397Asp)
c.3929C>G (n.3929C>G)
n.968C>G
c.814C>G (p.His272Asp)
n.4224C>G
c.4216C>G (p.His1406Asp)
c.4075C>G (p.His1359Asp)
c.3151C>G (p.His1051Asp)
n.4289C>G
c.4048C>G (p.His1350Asp)
c.3124C>G (p.His1042Asp)
n.4271C>G
18g.45910537G>TCA402339763EPG5n.2373C>A
c.4189C>A (p.His1397Asn)
c.3929C>A (n.3929C>A)
n.968C>A
c.814C>A (p.His272Asn)
n.4224C>A
c.4216C>A (p.His1406Asn)
c.4075C>A (p.His1359Asn)
c.3151C>A (p.His1051Asn)
n.4289C>A
c.4048C>A (p.His1350Asn)
c.3124C>A (p.His1042Asn)
n.4271C>A
18g.45910538C>ACA503793644EPG5n.2372G>T
c.4188G>T (p.Leu1396=)
c.3928G>T (n.3928G>T)
n.967G>T
c.813G>T (p.Leu271=)
n.4223G>T
c.4215G>T (p.Leu1405=)
c.4074G>T (p.Leu1358=)
c.3150G>T (p.Leu1050=)
n.4288G>T
c.4047G>T (p.Leu1349=)
c.3123G>T (p.Leu1041=)
n.4270G>T
18g.45910538C>GCA503793645EPG5n.2372G>C
c.4188G>C (p.Leu1396=)
c.3928G>C (n.3928G>C)
n.967G>C
c.813G>C (p.Leu271=)
n.4223G>C
c.4215G>C (p.Leu1405=)
c.4074G>C (p.Leu1358=)
c.3150G>C (p.Leu1050=)
n.4288G>C
c.4047G>C (p.Leu1349=)
c.3123G>C (p.Leu1041=)
n.4270G>C
18g.45910538C>TCA503793646EPG5n.2372G>A
c.4188G>A (p.Leu1396=)
c.3928G>A (n.3928G>A)
n.967G>A
c.813G>A (p.Leu271=)
n.4223G>A
c.4215G>A (p.Leu1405=)
c.4074G>A (p.Leu1358=)
c.3150G>A (p.Leu1050=)
n.4288G>A
c.4047G>A (p.Leu1349=)
c.3123G>A (p.Leu1041=)
n.4270G>A
18g.45910539A>CCA402339765EPG5n.2371T>G
c.4187T>G (p.Leu1396Arg)
c.3927T>G (n.3927T>G)
n.966T>G
c.812T>G (p.Leu271Arg)
n.4222T>G
c.4214T>G (p.Leu1405Arg)
c.4073T>G (p.Leu1358Arg)
c.3149T>G (p.Leu1050Arg)
n.4287T>G
c.4046T>G (p.Leu1349Arg)
c.3122T>G (p.Leu1041Arg)
n.4269T>G
18g.45910539A>GCA402339767EPG5n.2371T>C
c.4187T>C (p.Leu1396Pro)
c.3927T>C (n.3927T>C)
n.966T>C
c.812T>C (p.Leu271Pro)
n.4222T>C
c.4214T>C (p.Leu1405Pro)
c.4073T>C (p.Leu1358Pro)
c.3149T>C (p.Leu1050Pro)
n.4287T>C
c.4046T>C (p.Leu1349Pro)
c.3122T>C (p.Leu1041Pro)
n.4269T>C
18g.45910539A>TCA402339769EPG5n.2371T>A
c.4187T>A (p.Leu1396Gln)
c.3927T>A (n.3927T>A)
n.966T>A
c.812T>A (p.Leu271Gln)
n.4222T>A
c.4214T>A (p.Leu1405Gln)
c.4073T>A (p.Leu1358Gln)
c.3149T>A (p.Leu1050Gln)
n.4287T>A
c.4046T>A (p.Leu1349Gln)
c.3122T>A (p.Leu1041Gln)
n.4269T>A
18g.45910540G>ACA503793650EPG5n.2370C>T
c.4186C>T (p.Leu1396=)
c.3926C>T (n.3926C>T)
n.965C>T
c.811C>T (p.Leu271=)
n.4221C>T
c.4213C>T (p.Leu1405=)
c.4072C>T (p.Leu1358=)
c.3148C>T (p.Leu1050=)
n.4286C>T
c.4045C>T (p.Leu1349=)
c.3121C>T (p.Leu1041=)
n.4268C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.45910540G>CCA402339771EPG5n.2370C>G
c.4186C>G (p.Leu1396Val)
c.3926C>G (n.3926C>G)
n.965C>G
c.811C>G (p.Leu271Val)
n.4221C>G
c.4213C>G (p.Leu1405Val)
c.4072C>G (p.Leu1358Val)
c.3148C>G (p.Leu1050Val)
n.4286C>G
c.4045C>G (p.Leu1349Val)
c.3121C>G (p.Leu1041Val)
n.4268C>G
18g.45910540G=CA2300590846EPG5n.2370C=
c.4186C= (p.Leu1396=)
c.3926C= (n.3926C=)
n.965C=
c.811C= (p.Leu271=)
n.4221C=
c.4213C= (p.Leu1405=)
c.4072C= (p.Leu1358=)
c.3148C= (p.Leu1050=)
n.4286C=
c.4045C= (p.Leu1349=)
c.3121C= (p.Leu1041=)
n.4268C=
18g.45910540G>TCA402339773EPG5n.2370C>A
c.4186C>A (p.Leu1396Met)
c.3926C>A (n.3926C>A)
n.965C>A
c.811C>A (p.Leu271Met)
n.4221C>A
c.4213C>A (p.Leu1405Met)
c.4072C>A (p.Leu1358Met)
c.3148C>A (p.Leu1050Met)
n.4286C>A
c.4045C>A (p.Leu1349Met)
c.3121C>A (p.Leu1041Met)
n.4268C>A
18g.45910541T>ACA402339775EPG5n.2369A>T
c.4185A>T (p.Glu1395Asp)
c.3925A>T (n.3925A>T)
n.964A>T
c.810A>T (p.Glu270Asp)
n.4220A>T
c.4212A>T (p.Glu1404Asp)
c.4071A>T (p.Glu1357Asp)
c.3147A>T (p.Glu1049Asp)
n.4285A>T
c.4044A>T (p.Glu1348Asp)
c.3120A>T (p.Glu1040Asp)
n.4267A>T
18g.45910541T>CCA503793651EPG5n.2369A>G
c.4185A>G (p.Glu1395=)
c.3925A>G (n.3925A>G)
n.964A>G
c.810A>G (p.Glu270=)
n.4220A>G
c.4212A>G (p.Glu1404=)
c.4071A>G (p.Glu1357=)
c.3147A>G (p.Glu1049=)
n.4285A>G
c.4044A>G (p.Glu1348=)
c.3120A>G (p.Glu1040=)
n.4267A>G
18g.45910541T>GCA402339776EPG5n.2369A>C
c.4185A>C (p.Glu1395Asp)
c.3925A>C (n.3925A>C)
n.964A>C
c.810A>C (p.Glu270Asp)
n.4220A>C
c.4212A>C (p.Glu1404Asp)
c.4071A>C (p.Glu1357Asp)
c.3147A>C (p.Glu1049Asp)
n.4285A>C
c.4044A>C (p.Glu1348Asp)
c.3120A>C (p.Glu1040Asp)
n.4267A>C
 gnomAD v4
18g.45910542T>ACA402339779EPG5n.2368A>T
c.4184A>T (p.Glu1395Val)
c.3924A>T (n.3924A>T)
n.963A>T
c.809A>T (p.Glu270Val)
n.4219A>T
c.4211A>T (p.Glu1404Val)
c.4070A>T (p.Glu1357Val)
c.3146A>T (p.Glu1049Val)
n.4284A>T
c.4043A>T (p.Glu1348Val)
c.3119A>T (p.Glu1040Val)
n.4266A>T
18g.45910542T>CCA402339780EPG5n.2368A>G
c.4184A>G (p.Glu1395Gly)
c.3924A>G (n.3924A>G)
n.963A>G
c.809A>G (p.Glu270Gly)
n.4219A>G
c.4211A>G (p.Glu1404Gly)
c.4070A>G (p.Glu1357Gly)
c.3146A>G (p.Glu1049Gly)
n.4284A>G
c.4043A>G (p.Glu1348Gly)
c.3119A>G (p.Glu1040Gly)
n.4266A>G
18g.45910542T>GCA402339781EPG5n.2368A>C
c.4184A>C (p.Glu1395Ala)
c.3924A>C (n.3924A>C)
n.963A>C
c.809A>C (p.Glu270Ala)
n.4219A>C
c.4211A>C (p.Glu1404Ala)
c.4070A>C (p.Glu1357Ala)
c.3146A>C (p.Glu1049Ala)
n.4284A>C
c.4043A>C (p.Glu1348Ala)
c.3119A>C (p.Glu1040Ala)
n.4266A>C
18g.45910543C>ACA402339783EPG5n.2367G>T
c.4183G>T (p.Glu1395Ter)
c.3923G>T (n.3923G>T)
n.962G>T
c.808G>T (p.Glu270Ter)
n.4218G>T
c.4210G>T (p.Glu1404Ter)
c.4069G>T (p.Glu1357Ter)
c.3145G>T (p.Glu1049Ter)
n.4283G>T
c.4042G>T (p.Glu1348Ter)
c.3118G>T (p.Glu1040Ter)
n.4265G>T
18g.45910543C>GCA402339785EPG5n.2367G>C
c.4183G>C (p.Glu1395Gln)
c.3923G>C (n.3923G>C)
n.962G>C
c.808G>C (p.Glu270Gln)
n.4218G>C
c.4210G>C (p.Glu1404Gln)
c.4069G>C (p.Glu1357Gln)
c.3145G>C (p.Glu1049Gln)
n.4283G>C
c.4042G>C (p.Glu1348Gln)
c.3118G>C (p.Glu1040Gln)
n.4265G>C
18g.45910543C>TCA402339786EPG5n.2367G>A
c.4183G>A (p.Glu1395Lys)
c.3923G>A (n.3923G>A)
n.962G>A
c.808G>A (p.Glu270Lys)
n.4218G>A
c.4210G>A (p.Glu1404Lys)
c.4069G>A (p.Glu1357Lys)
c.3145G>A (p.Glu1049Lys)
n.4283G>A
c.4042G>A (p.Glu1348Lys)
c.3118G>A (p.Glu1040Lys)
n.4265G>A
18g.45910544T>ACA503793652EPG5n.2366A>T
c.4182A>T (p.Pro1394=)
c.3922A>T (n.3922A>T)
n.961A>T
c.807A>T (p.Pro269=)
n.4217A>T
c.4209A>T (p.Pro1403=)
c.4068A>T (p.Pro1356=)
c.3144A>T (p.Pro1048=)
n.4282A>T
c.4041A>T (p.Pro1347=)
c.3117A>T (p.Pro1039=)
n.4264A>T
18g.45910544T>CCA503793653EPG5n.2366A>G
c.4182A>G (p.Pro1394=)
c.3922A>G (n.3922A>G)
n.961A>G
c.807A>G (p.Pro269=)
n.4217A>G
c.4209A>G (p.Pro1403=)
c.4068A>G (p.Pro1356=)
c.3144A>G (p.Pro1048=)
n.4282A>G
c.4041A>G (p.Pro1347=)
c.3117A>G (p.Pro1039=)
n.4264A>G
18g.45910544T>GCA503793654EPG5n.2366A>C
c.4182A>C (p.Pro1394=)
c.3922A>C (n.3922A>C)
n.961A>C
c.807A>C (p.Pro269=)
n.4217A>C
c.4209A>C (p.Pro1403=)
c.4068A>C (p.Pro1356=)
c.3144A>C (p.Pro1048=)
n.4282A>C
c.4041A>C (p.Pro1347=)
c.3117A>C (p.Pro1039=)
n.4264A>C
18g.45910545G>ACA402339789EPG5n.2365C>T
c.4181C>T (p.Pro1394Leu)
c.3921C>T (n.3921C>T)
n.960C>T
c.806C>T (p.Pro269Leu)
n.4216C>T
c.4208C>T (p.Pro1403Leu)
c.4067C>T (p.Pro1356Leu)
c.3143C>T (p.Pro1048Leu)
n.4281C>T
c.4040C>T (p.Pro1347Leu)
c.3116C>T (p.Pro1039Leu)
n.4263C>T
18g.45910545G>CCA402339790EPG5n.2365C>G
c.4181C>G (p.Pro1394Arg)
c.3921C>G (n.3921C>G)
n.960C>G
c.806C>G (p.Pro269Arg)
n.4216C>G
c.4208C>G (p.Pro1403Arg)
c.4067C>G (p.Pro1356Arg)
c.3143C>G (p.Pro1048Arg)
n.4281C>G
c.4040C>G (p.Pro1347Arg)
c.3116C>G (p.Pro1039Arg)
n.4263C>G
18g.45910545G>TCA402339792EPG5n.2365C>A
c.4181C>A (p.Pro1394Gln)
c.3921C>A (n.3921C>A)
n.960C>A
c.806C>A (p.Pro269Gln)
n.4216C>A
c.4208C>A (p.Pro1403Gln)
c.4067C>A (p.Pro1356Gln)
c.3143C>A (p.Pro1048Gln)
n.4281C>A
c.4040C>A (p.Pro1347Gln)
c.3116C>A (p.Pro1039Gln)
n.4263C>A
18g.45910546G>ACA402339796EPG5n.2364C>T
c.4180C>T (p.Pro1394Ser)
c.3920C>T (n.3920C>T)
n.959C>T
c.805C>T (p.Pro269Ser)
n.4215C>T
c.4207C>T (p.Pro1403Ser)
c.4066C>T (p.Pro1356Ser)
c.3142C>T (p.Pro1048Ser)
n.4280C>T
c.4039C>T (p.Pro1347Ser)
c.3115C>T (p.Pro1039Ser)
n.4262C>T
18g.45910546G>CCA402339799EPG5n.2364C>G
c.4180C>G (p.Pro1394Ala)
c.3920C>G (n.3920C>G)
n.959C>G
c.805C>G (p.Pro269Ala)
n.4215C>G
c.4207C>G (p.Pro1403Ala)
c.4066C>G (p.Pro1356Ala)
c.3142C>G (p.Pro1048Ala)
n.4280C>G
c.4039C>G (p.Pro1347Ala)
c.3115C>G (p.Pro1039Ala)
n.4262C>G
18g.45910546G>TCA402339795EPG5n.2364C>A
c.4180C>A (p.Pro1394Thr)
c.3920C>A (n.3920C>A)
n.959C>A
c.805C>A (p.Pro269Thr)
n.4215C>A
c.4207C>A (p.Pro1403Thr)
c.4066C>A (p.Pro1356Thr)
c.3142C>A (p.Pro1048Thr)
n.4280C>A
c.4039C>A (p.Pro1347Thr)
c.3115C>A (p.Pro1039Thr)
n.4262C>A
18g.45910547T>ACA503793655EPG5n.2363A>T
c.4179A>T (p.Ser1393=)
c.3919A>T (n.3919A>T)
n.958A>T
c.804A>T (p.Ser268=)
n.4214A>T
c.4206A>T (p.Ser1402=)
c.4065A>T (p.Ser1355=)
c.3141A>T (p.Ser1047=)
n.4279A>T
c.4038A>T (p.Ser1346=)
c.3114A>T (p.Ser1038=)
n.4261A>T
18g.45910547T>CCA503793656EPG5n.2363A>G
c.4179A>G (p.Ser1393=)
c.3919A>G (n.3919A>G)
n.958A>G
c.804A>G (p.Ser268=)
n.4214A>G
c.4206A>G (p.Ser1402=)
c.4065A>G (p.Ser1355=)
c.3141A>G (p.Ser1047=)
n.4279A>G
c.4038A>G (p.Ser1346=)
c.3114A>G (p.Ser1038=)
n.4261A>G
 gnomAD v4
18g.45910547T>GCA503793657EPG5n.2363A>C
c.4179A>C (p.Ser1393=)
c.3919A>C (n.3919A>C)
n.958A>C
c.804A>C (p.Ser268=)
n.4214A>C
c.4206A>C (p.Ser1402=)
c.4065A>C (p.Ser1355=)
c.3141A>C (p.Ser1047=)
n.4279A>C
c.4038A>C (p.Ser1346=)
c.3114A>C (p.Ser1038=)
n.4261A>C
18g.45910548G>ACA402339801EPG5n.2362C>T
c.4178C>T (p.Ser1393Leu)
c.3918C>T (n.3918C>T)
n.957C>T
c.803C>T (p.Ser268Leu)
n.4213C>T
c.4205C>T (p.Ser1402Leu)
c.4064C>T (p.Ser1355Leu)
c.3140C>T (p.Ser1047Leu)
n.4278C>T
c.4037C>T (p.Ser1346Leu)
c.3113C>T (p.Ser1038Leu)
n.4260C>T
18g.45910548G>CCA402339803EPG5n.2362C>G
c.4178C>G (p.Ser1393Ter)
c.3918C>G (n.3918C>G)
n.957C>G
c.803C>G (p.Ser268Ter)
n.4213C>G
c.4205C>G (p.Ser1402Ter)
c.4064C>G (p.Ser1355Ter)
c.3140C>G (p.Ser1047Ter)
n.4278C>G
c.4037C>G (p.Ser1346Ter)
c.3113C>G (p.Ser1038Ter)
n.4260C>G
 gnomAD v4
18g.45910548G>TCA402339805EPG5n.2362C>A
c.4178C>A (p.Ser1393Ter)
c.3918C>A (n.3918C>A)
n.957C>A
c.803C>A (p.Ser268Ter)
n.4213C>A
c.4205C>A (p.Ser1402Ter)
c.4064C>A (p.Ser1355Ter)
c.3140C>A (p.Ser1047Ter)
n.4278C>A
c.4037C>A (p.Ser1346Ter)
c.3113C>A (p.Ser1038Ter)
n.4260C>A
18g.45910549A>CCA402339807EPG5n.2361T>G
c.4177T>G (p.Ser1393Ala)
c.3917T>G (n.3917T>G)
n.956T>G
c.802T>G (p.Ser268Ala)
n.4212T>G
c.4204T>G (p.Ser1402Ala)
c.4063T>G (p.Ser1355Ala)
c.3139T>G (p.Ser1047Ala)
n.4277T>G
c.4036T>G (p.Ser1346Ala)
c.3112T>G (p.Ser1038Ala)
n.4259T>G
18g.45910549A>GCA402339809EPG5n.2361T>C
c.4177T>C (p.Ser1393Pro)
c.3917T>C (n.3917T>C)
n.956T>C
c.802T>C (p.Ser268Pro)
n.4212T>C
c.4204T>C (p.Ser1402Pro)
c.4063T>C (p.Ser1355Pro)
c.3139T>C (p.Ser1047Pro)
n.4277T>C
c.4036T>C (p.Ser1346Pro)
c.3112T>C (p.Ser1038Pro)
n.4259T>C
18g.45910549A>TCA402339811EPG5n.2361T>A
c.4177T>A (p.Ser1393Thr)
c.3917T>A (n.3917T>A)
n.956T>A
c.802T>A (p.Ser268Thr)
n.4212T>A
c.4204T>A (p.Ser1402Thr)
c.4063T>A (p.Ser1355Thr)
c.3139T>A (p.Ser1047Thr)
n.4277T>A
c.4036T>A (p.Ser1346Thr)
c.3112T>A (p.Ser1038Thr)
n.4259T>A
 gnomAD v4
18g.45910550A=CA2300590847EPG5n.2360T=
c.4176T= (p.Thr1392=)
c.3916T= (n.3916T=)
n.955T=
c.801T= (p.Thr267=)
n.4211T=
c.4203T= (p.Thr1401=)
c.4062T= (p.Thr1354=)
c.3138T= (p.Thr1046=)
n.4276T=
c.4035T= (p.Thr1345=)
c.3111T= (p.Thr1037=)
n.4258T=
18g.45910550A>CCA503793658EPG5n.2360T>G
c.4176T>G (p.Thr1392=)
c.3916T>G (n.3916T>G)
n.955T>G
c.801T>G (p.Thr267=)
n.4211T>G
c.4203T>G (p.Thr1401=)
c.4062T>G (p.Thr1354=)
c.3138T>G (p.Thr1046=)
n.4276T>G
c.4035T>G (p.Thr1345=)
c.3111T>G (p.Thr1037=)
n.4258T>G
18g.45910550A>GCA503793659EPG5n.2360T>C
c.4176T>C (p.Thr1392=)
c.3916T>C (n.3916T>C)
n.955T>C
c.801T>C (p.Thr267=)
n.4211T>C
c.4203T>C (p.Thr1401=)
c.4062T>C (p.Thr1354=)
c.3138T>C (p.Thr1046=)
n.4276T>C
c.4035T>C (p.Thr1345=)
c.3111T>C (p.Thr1037=)
n.4258T>C
 dbSNP gnomAD v3 gnomAD v4
18g.45910550A>TCA503793660EPG5n.2360T>A
c.4176T>A (p.Thr1392=)
c.3916T>A (n.3916T>A)
n.955T>A
c.801T>A (p.Thr267=)
n.4211T>A
c.4203T>A (p.Thr1401=)
c.4062T>A (p.Thr1354=)
c.3138T>A (p.Thr1046=)
n.4276T>A
c.4035T>A (p.Thr1345=)
c.3111T>A (p.Thr1037=)
n.4258T>A
18g.45910551G>ACA402339813EPG5n.2359C>T
c.4175C>T (p.Thr1392Ile)
c.3915C>T (n.3915C>T)
n.954C>T
c.800C>T (p.Thr267Ile)
n.4210C>T
c.4202C>T (p.Thr1401Ile)
c.4061C>T (p.Thr1354Ile)
c.3137C>T (p.Thr1046Ile)
n.4275C>T
c.4034C>T (p.Thr1345Ile)
c.3110C>T (p.Thr1037Ile)
n.4257C>T
 gnomAD v4
18g.45910551G>CCA402339815EPG5n.2359C>G
c.4175C>G (p.Thr1392Ser)
c.3915C>G (n.3915C>G)
n.954C>G
c.800C>G (p.Thr267Ser)
n.4210C>G
c.4202C>G (p.Thr1401Ser)
c.4061C>G (p.Thr1354Ser)
c.3137C>G (p.Thr1046Ser)
n.4275C>G
c.4034C>G (p.Thr1345Ser)
c.3110C>G (p.Thr1037Ser)
n.4257C>G
18g.45910551G>TCA402339817EPG5n.2359C>A
c.4175C>A (p.Thr1392Asn)
c.3915C>A (n.3915C>A)
n.954C>A
c.800C>A (p.Thr267Asn)
n.4210C>A
c.4202C>A (p.Thr1401Asn)
c.4061C>A (p.Thr1354Asn)
c.3137C>A (p.Thr1046Asn)
n.4275C>A
c.4034C>A (p.Thr1345Asn)
c.3110C>A (p.Thr1037Asn)
n.4257C>A
18g.45910552T>ACA402339820EPG5n.2358A>T
c.4174A>T (p.Thr1392Ser)
c.3914A>T (n.3914A>T)
n.953A>T
c.799A>T (p.Thr267Ser)
n.4209A>T
c.4201A>T (p.Thr1401Ser)
c.4060A>T (p.Thr1354Ser)
c.3136A>T (p.Thr1046Ser)
n.4274A>T
c.4033A>T (p.Thr1345Ser)
c.3109A>T (p.Thr1037Ser)
n.4256A>T
18g.45910552T>CCA402339822EPG5n.2358A>G
c.4174A>G (p.Thr1392Ala)
c.3914A>G (n.3914A>G)
n.953A>G
c.799A>G (p.Thr267Ala)
n.4209A>G
c.4201A>G (p.Thr1401Ala)
c.4060A>G (p.Thr1354Ala)
c.3136A>G (p.Thr1046Ala)
n.4274A>G
c.4033A>G (p.Thr1345Ala)
c.3109A>G (p.Thr1037Ala)
n.4256A>G
 dbSNP
18g.45910552T>GCA402339823EPG5n.2358A>C
c.4174A>C (p.Thr1392Pro)
c.3914A>C (n.3914A>C)
n.953A>C
c.799A>C (p.Thr267Pro)
n.4209A>C
c.4201A>C (p.Thr1401Pro)
c.4060A>C (p.Thr1354Pro)
c.3136A>C (p.Thr1046Pro)
n.4274A>C
c.4033A>C (p.Thr1345Pro)
c.3109A>C (p.Thr1037Pro)
n.4256A>C
18g.45910552T=CA2300590848EPG5n.2358A=
c.4174A= (p.Thr1392=)
c.3914A= (n.3914A=)
n.953A=
c.799A= (p.Thr267=)
n.4209A=
c.4201A= (p.Thr1401=)
c.4060A= (p.Thr1354=)
c.3136A= (p.Thr1046=)
n.4274A=
c.4033A= (p.Thr1345=)
c.3109A= (p.Thr1037=)
n.4256A=
18g.45910553C>ACA503793663EPG5n.2357G>T
c.4173G>T (p.Leu1391=)
c.3913G>T (n.3913G>T)
n.952G>T
c.798G>T (p.Leu266=)
n.4208G>T
c.4200G>T (p.Leu1400=)
c.4059G>T (p.Leu1353=)
c.3135G>T (p.Leu1045=)
n.4273G>T
c.4032G>T (p.Leu1344=)
c.3108G>T (p.Leu1036=)
n.4255G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.45910553C=CA2300590849EPG5n.2357G=
c.4173G= (p.Leu1391=)
c.3913G= (n.3913G=)
n.952G=
c.798G= (p.Leu266=)
n.4208G=
c.4200G= (p.Leu1400=)
c.4059G= (p.Leu1353=)
c.3135G= (p.Leu1045=)
n.4273G=
c.4032G= (p.Leu1344=)
c.3108G= (p.Leu1036=)
n.4255G=
18g.45910553C>GCA503793662EPG5n.2357G>C
c.4173G>C (p.Leu1391=)
c.3913G>C (n.3913G>C)
n.952G>C
c.798G>C (p.Leu266=)
n.4208G>C
c.4200G>C (p.Leu1400=)
c.4059G>C (p.Leu1353=)
c.3135G>C (p.Leu1045=)
n.4273G>C
c.4032G>C (p.Leu1344=)
c.3108G>C (p.Leu1036=)
n.4255G>C
18g.45910553C>TCA503793661EPG5n.2357G>A
c.4173G>A (p.Leu1391=)
c.3913G>A (n.3913G>A)
n.952G>A
c.798G>A (p.Leu266=)
n.4208G>A
c.4200G>A (p.Leu1400=)
c.4059G>A (p.Leu1353=)
c.3135G>A (p.Leu1045=)
n.4273G>A
c.4032G>A (p.Leu1344=)
c.3108G>A (p.Leu1036=)
n.4255G>A
 gnomAD v4
18g.45910554A=CA2300590850EPG5n.2356T=
c.4172T= (p.Leu1391=)
c.3912T= (n.3912T=)
n.951T=
c.797T= (p.Leu266=)
n.4207T=
c.4199T= (p.Leu1400=)
c.4058T= (p.Leu1353=)
c.3134T= (p.Leu1045=)
n.4272T=
c.4031T= (p.Leu1344=)
c.3107T= (p.Leu1036=)
n.4254T=
18g.45910554A>CCA402339826EPG5n.2356T>G
c.4172T>G (p.Leu1391Arg)
c.3912T>G (n.3912T>G)
n.951T>G
c.797T>G (p.Leu266Arg)
n.4207T>G
c.4199T>G (p.Leu1400Arg)
c.4058T>G (p.Leu1353Arg)
c.3134T>G (p.Leu1045Arg)
n.4272T>G
c.4031T>G (p.Leu1344Arg)
c.3107T>G (p.Leu1036Arg)
n.4254T>G
18g.45910554A>GCA402339828EPG5n.2356T>C
c.4172T>C (p.Leu1391Pro)
c.3912T>C (n.3912T>C)
n.951T>C
c.797T>C (p.Leu266Pro)
n.4207T>C
c.4199T>C (p.Leu1400Pro)
c.4058T>C (p.Leu1353Pro)
c.3134T>C (p.Leu1045Pro)
n.4272T>C
c.4031T>C (p.Leu1344Pro)
c.3107T>C (p.Leu1036Pro)
n.4254T>C
18g.45910554A>TCA402339824EPG5n.2356T>A
c.4172T>A (p.Leu1391Gln)
c.3912T>A (n.3912T>A)
n.951T>A
c.797T>A (p.Leu266Gln)
n.4207T>A
c.4199T>A (p.Leu1400Gln)
c.4058T>A (p.Leu1353Gln)
c.3134T>A (p.Leu1045Gln)
n.4272T>A
c.4031T>A (p.Leu1344Gln)
c.3107T>A (p.Leu1036Gln)
n.4254T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.45910555G>ACA503793664EPG5n.2355C>T
c.4171C>T (p.Leu1391=)
c.3911C>T (n.3911C>T)
n.950C>T
c.796C>T (p.Leu266=)
n.4206C>T
c.4198C>T (p.Leu1400=)
c.4057C>T (p.Leu1353=)
c.3133C>T (p.Leu1045=)
n.4271C>T
c.4030C>T (p.Leu1344=)
c.3106C>T (p.Leu1036=)
n.4253C>T
18g.45910555G>CCA402339830EPG5n.2355C>G
c.4171C>G (p.Leu1391Val)
c.3911C>G (n.3911C>G)
n.950C>G
c.796C>G (p.Leu266Val)
n.4206C>G
c.4198C>G (p.Leu1400Val)
c.4057C>G (p.Leu1353Val)
c.3133C>G (p.Leu1045Val)
n.4271C>G
c.4030C>G (p.Leu1344Val)
c.3106C>G (p.Leu1036Val)
n.4253C>G
18g.45910555G>TCA402339832EPG5n.2355C>A
c.4171C>A (p.Leu1391Met)
c.3911C>A (n.3911C>A)
n.950C>A
c.796C>A (p.Leu266Met)
n.4206C>A
c.4198C>A (p.Leu1400Met)
c.4057C>A (p.Leu1353Met)
c.3133C>A (p.Leu1045Met)
n.4271C>A
c.4030C>A (p.Leu1344Met)
c.3106C>A (p.Leu1036Met)
n.4253C>A
18g.45910556G>ACA503793665EPG5n.2354C>T
c.4170C>T (p.Tyr1390=)
c.3910C>T (n.3910C>T)
n.949C>T
c.795C>T (p.Tyr265=)
n.4205C>T
c.4197C>T (p.Tyr1399=)
c.4056C>T (p.Tyr1352=)
c.3132C>T (p.Tyr1044=)
n.4270C>T
c.4029C>T (p.Tyr1343=)
c.3105C>T (p.Tyr1035=)
n.4252C>T
18g.45910556G>CCA402339834EPG5n.2354C>G
c.4170C>G (p.Tyr1390Ter)
c.3910C>G (n.3910C>G)
n.949C>G
c.795C>G (p.Tyr265Ter)
n.4205C>G
c.4197C>G (p.Tyr1399Ter)
c.4056C>G (p.Tyr1352Ter)
c.3132C>G (p.Tyr1044Ter)
n.4270C>G
c.4029C>G (p.Tyr1343Ter)
c.3105C>G (p.Tyr1035Ter)
n.4252C>G
 gnomAD v4
18g.45910556G>TCA402339836EPG5n.2354C>A
c.4170C>A (p.Tyr1390Ter)
c.3910C>A (n.3910C>A)
n.949C>A
c.795C>A (p.Tyr265Ter)
n.4205C>A
c.4197C>A (p.Tyr1399Ter)
c.4056C>A (p.Tyr1352Ter)
c.3132C>A (p.Tyr1044Ter)
n.4270C>A
c.4029C>A (p.Tyr1343Ter)
c.3105C>A (p.Tyr1035Ter)
n.4252C>A
18g.45910557T>ACA402339838EPG5n.2353A>T
c.4169A>T (p.Tyr1390Phe)
c.3909A>T (n.3909A>T)
n.948A>T
c.794A>T (p.Tyr265Phe)
n.4204A>T
c.4196A>T (p.Tyr1399Phe)
c.4055A>T (p.Tyr1352Phe)
c.3131A>T (p.Tyr1044Phe)
n.4269A>T
c.4028A>T (p.Tyr1343Phe)
c.3104A>T (p.Tyr1035Phe)
n.4251A>T
18g.45910557T>CCA358038EPG5n.2353A>G
c.4169A>G (p.Tyr1390Cys)
c.3909A>G (n.3909A>G)
n.948A>G
c.794A>G (p.Tyr265Cys)
n.4204A>G
c.4196A>G (p.Tyr1399Cys)
c.4055A>G (p.Tyr1352Cys)
c.3131A>G (p.Tyr1044Cys)
n.4269A>G
c.4028A>G (p.Tyr1343Cys)
c.3104A>G (p.Tyr1035Cys)
n.4251A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.45910557T>GCA8948965EPG5n.2353A>C
c.4169A>C (p.Tyr1390Ser)
c.3909A>C (n.3909A>C)
n.948A>C
c.794A>C (p.Tyr265Ser)
n.4204A>C
c.4196A>C (p.Tyr1399Ser)
c.4055A>C (p.Tyr1352Ser)
c.3131A>C (p.Tyr1044Ser)
n.4269A>C
c.4028A>C (p.Tyr1343Ser)
c.3104A>C (p.Tyr1035Ser)
n.4251A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.45910557T=CA2300590851EPG5n.2353A=
c.4169A= (p.Tyr1390=)
c.3909A= (n.3909A=)
n.948A=
c.794A= (p.Tyr265=)
n.4204A=
c.4196A= (p.Tyr1399=)
c.4055A= (p.Tyr1352=)
c.3131A= (p.Tyr1044=)
n.4269A=
c.4028A= (p.Tyr1343=)
c.3104A= (p.Tyr1035=)
n.4251A=
18g.45910558A>CCA402339848EPG5n.2352T>G
c.4168T>G (p.Tyr1390Asp)
c.3908T>G (n.3908T>G)
n.947T>G
c.793T>G (p.Tyr265Asp)
n.4203T>G
c.4195T>G (p.Tyr1399Asp)
c.4054T>G (p.Tyr1352Asp)
c.3130T>G (p.Tyr1044Asp)
n.4268T>G
c.4027T>G (p.Tyr1343Asp)
c.3103T>G (p.Tyr1035Asp)
n.4250T>G
18g.45910558A>GCA402339846EPG5n.2352T>C
c.4168T>C (p.Tyr1390His)
c.3908T>C (n.3908T>C)
n.947T>C
c.793T>C (p.Tyr265His)
n.4203T>C
c.4195T>C (p.Tyr1399His)
c.4054T>C (p.Tyr1352His)
c.3130T>C (p.Tyr1044His)
n.4268T>C
c.4027T>C (p.Tyr1343His)
c.3103T>C (p.Tyr1035His)
n.4250T>C
18g.45910558A>TCA402339845EPG5n.2352T>A
c.4168T>A (p.Tyr1390Asn)
c.3908T>A (n.3908T>A)
n.947T>A
c.793T>A (p.Tyr265Asn)
n.4203T>A
c.4195T>A (p.Tyr1399Asn)
c.4054T>A (p.Tyr1352Asn)
c.3130T>A (p.Tyr1044Asn)
n.4268T>A
c.4027T>A (p.Tyr1343Asn)
c.3103T>A (p.Tyr1035Asn)
n.4250T>A
18g.45910558_45910560dupCA8948964EPG5n.2350_2352dup
c.4166_4168dup (p.Gly1389_Tyr1390insCys)
c.3906_3908dup (n.3906_3908dup)
n.945_947dup
c.791_793dup (p.Gly264_Tyr265insCys)
n.4201_4203dup
c.4193_4195dup (p.Gly1398_Tyr1399insCys)
c.4052_4054dup (p.Gly1351_Tyr1352insCys)
c.3128_3130dup (p.Gly1043_Tyr1044insCys)
n.4266_4268dup
c.4025_4027dup (p.Gly1342_Tyr1343insCys)
c.3101_3103dup (p.Gly1034_Tyr1035insCys)
n.4248_4250dup
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910559A>CCA503793666EPG5n.2351T>G
c.4167T>G (p.Gly1389=)
c.3907T>G (n.3907T>G)
n.946T>G
c.792T>G (p.Gly264=)
n.4202T>G
c.4194T>G (p.Gly1398=)
c.4053T>G (p.Gly1351=)
c.3129T>G (p.Gly1043=)
n.4267T>G
c.4026T>G (p.Gly1342=)
c.3102T>G (p.Gly1034=)
n.4249T>G
18g.45910559A>GCA503793667EPG5n.2351T>C
c.4167T>C (p.Gly1389=)
c.3907T>C (n.3907T>C)
n.946T>C
c.792T>C (p.Gly264=)
n.4202T>C
c.4194T>C (p.Gly1398=)
c.4053T>C (p.Gly1351=)
c.3129T>C (p.Gly1043=)
n.4267T>C
c.4026T>C (p.Gly1342=)
c.3102T>C (p.Gly1034=)
n.4249T>C
18g.45910559A>TCA503793668EPG5n.2351T>A
c.4167T>A (p.Gly1389=)
c.3907T>A (n.3907T>A)
n.946T>A
c.792T>A (p.Gly264=)
n.4202T>A
c.4194T>A (p.Gly1398=)
c.4053T>A (p.Gly1351=)
c.3129T>A (p.Gly1043=)
n.4267T>A
c.4026T>A (p.Gly1342=)
c.3102T>A (p.Gly1034=)
n.4249T>A
18g.45910560C>ACA8948966EPG5n.2350G>T
c.4166G>T (p.Gly1389Val)
c.3906G>T (n.3906G>T)
n.945G>T
c.791G>T (p.Gly264Val)
n.4201G>T
c.4193G>T (p.Gly1398Val)
c.4052G>T (p.Gly1351Val)
c.3128G>T (p.Gly1043Val)
n.4266G>T
c.4025G>T (p.Gly1342Val)
c.3101G>T (p.Gly1034Val)
n.4248G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910560C=CA2300590852EPG5n.2350G=
c.4166G= (p.Gly1389=)
c.3906G= (n.3906G=)
n.945G=
c.791G= (p.Gly264=)
n.4201G=
c.4193G= (p.Gly1398=)
c.4052G= (p.Gly1351=)
c.3128G= (p.Gly1043=)
n.4266G=
c.4025G= (p.Gly1342=)
c.3101G= (p.Gly1034=)
n.4248G=
18g.45910560C>GCA8948967EPG5n.2350G>C
c.4166G>C (p.Gly1389Ala)
c.3906G>C (n.3906G>C)
n.945G>C
c.791G>C (p.Gly264Ala)
n.4201G>C
c.4193G>C (p.Gly1398Ala)
c.4052G>C (p.Gly1351Ala)
c.3128G>C (p.Gly1043Ala)
n.4266G>C
c.4025G>C (p.Gly1342Ala)
c.3101G>C (p.Gly1034Ala)
n.4248G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910560C>TCA402339852EPG5n.2350G>A
c.4166G>A (p.Gly1389Asp)
c.3906G>A (n.3906G>A)
n.945G>A
c.791G>A (p.Gly264Asp)
n.4201G>A
c.4193G>A (p.Gly1398Asp)
c.4052G>A (p.Gly1351Asp)
c.3128G>A (p.Gly1043Asp)
n.4266G>A
c.4025G>A (p.Gly1342Asp)
c.3101G>A (p.Gly1034Asp)
n.4248G>A
18g.45910561C>ACA8948968EPG5n.2349G>T
c.4165G>T (p.Gly1389Cys)
c.3905G>T (n.3905G>T)
n.944G>T
c.790G>T (p.Gly264Cys)
n.4200G>T
c.4192G>T (p.Gly1398Cys)
c.4051G>T (p.Gly1351Cys)
c.3127G>T (p.Gly1043Cys)
n.4265G>T
c.4024G>T (p.Gly1342Cys)
c.3100G>T (p.Gly1034Cys)
n.4247G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910561C=CA2300590854EPG5n.2349G=
c.4165G= (p.Gly1389=)
c.3905G= (n.3905G=)
n.944G=
c.790G= (p.Gly264=)
n.4200G=
c.4192G= (p.Gly1398=)
c.4051G= (p.Gly1351=)
c.3127G= (p.Gly1043=)
n.4265G=
c.4024G= (p.Gly1342=)
c.3100G= (p.Gly1034=)
n.4247G=
18g.45910561C>GCA402339857EPG5n.2349G>C
c.4165G>C (p.Gly1389Arg)
c.3905G>C (n.3905G>C)
n.944G>C
c.790G>C (p.Gly264Arg)
n.4200G>C
c.4192G>C (p.Gly1398Arg)
c.4051G>C (p.Gly1351Arg)
c.3127G>C (p.Gly1043Arg)
n.4265G>C
c.4024G>C (p.Gly1342Arg)
c.3100G>C (p.Gly1034Arg)
n.4247G>C
18g.45910561C>TCA402339855EPG5n.2349G>A
c.4165G>A (p.Gly1389Ser)
c.3905G>A (n.3905G>A)
n.944G>A
c.790G>A (p.Gly264Ser)
n.4200G>A
c.4192G>A (p.Gly1398Ser)
c.4051G>A (p.Gly1351Ser)
c.3127G>A (p.Gly1043Ser)
n.4265G>A
c.4024G>A (p.Gly1342Ser)
c.3100G>A (p.Gly1034Ser)
n.4247G>A
18g.45910561_45910562delinsATCA916083647EPG5n.2348_2349delinsAT
c.4164_4165delinsAT (p.Gly1389Cys)
c.3904_3905delinsAT (n.3904_3905delinsAT)
n.943_944delinsAT
c.789_790delinsAT (p.Gly264Cys)
n.4199_4200delinsAT
c.4191_4192delinsAT (p.Gly1398Cys)
c.4050_4051delinsAT (p.Gly1351Cys)
c.3126_3127delinsAT (p.Gly1043Cys)
n.4264_4265delinsAT
c.4023_4024delinsAT (p.Gly1342Cys)
c.3099_3100delinsAT (p.Gly1034Cys)
n.4246_4247delinsAT
 ClinVar dbSNP
18g.45910561_45910562delinsCACA2300590853EPG5n.2348_2349delinsTG
c.4164_4165delinsTG (p.Pro1388=)
c.3904_3905delinsTG (n.3904_3905delinsTG)
n.943_944delinsTG
c.789_790delinsTG (p.Pro263=)
n.4199_4200delinsTG
c.4191_4192delinsTG (p.Pro1397=)
c.4050_4051delinsTG (p.Pro1350=)
c.3126_3127delinsTG (p.Pro1042=)
n.4264_4265delinsTG
c.4023_4024delinsTG (p.Pro1341=)
c.3099_3100delinsTG (p.Pro1033=)
n.4246_4247delinsTG
18g.45910562A=CA2300590855EPG5n.2348T=
c.4164T= (p.Pro1388=)
c.3904T= (n.3904T=)
n.943T=
c.789T= (p.Pro263=)
n.4199T=
c.4191T= (p.Pro1397=)
c.4050T= (p.Pro1350=)
c.3126T= (p.Pro1042=)
n.4264T=
c.4023T= (p.Pro1341=)
c.3099T= (p.Pro1033=)
n.4246T=
18g.45910562A>CCA503793669EPG5n.2348T>G
c.4164T>G (p.Pro1388=)
c.3904T>G (n.3904T>G)
n.943T>G
c.789T>G (p.Pro263=)
n.4199T>G
c.4191T>G (p.Pro1397=)
c.4050T>G (p.Pro1350=)
c.3126T>G (p.Pro1042=)
n.4264T>G
c.4023T>G (p.Pro1341=)
c.3099T>G (p.Pro1033=)
n.4246T>G
18g.45910562A>GCA503793670EPG5n.2348T>C
c.4164T>C (p.Pro1388=)
c.3904T>C (n.3904T>C)
n.943T>C
c.789T>C (p.Pro263=)
n.4199T>C
c.4191T>C (p.Pro1397=)
c.4050T>C (p.Pro1350=)
c.3126T>C (p.Pro1042=)
n.4264T>C
c.4023T>C (p.Pro1341=)
c.3099T>C (p.Pro1033=)
n.4246T>C
18g.45910562A>TCA8948969EPG5n.2348T>A
c.4164T>A (p.Pro1388=)
c.3904T>A (n.3904T>A)
n.943T>A
c.789T>A (p.Pro263=)
n.4199T>A
c.4191T>A (p.Pro1397=)
c.4050T>A (p.Pro1350=)
c.3126T>A (p.Pro1042=)
n.4264T>A
c.4023T>A (p.Pro1341=)
c.3099T>A (p.Pro1033=)
n.4246T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910564_45910574dupCA2641629235EPG5n.2338_2348dup
c.4154_4164dup (p.Gly1389LeufsTer7)
c.3894_3904dup (n.3894_3904dup)
n.933_943dup
c.779_789dup (p.Gly264LeufsTer7)
n.4189_4199dup
c.4181_4191dup (p.Gly1398LeufsTer7)
c.4040_4050dup (p.Gly1351LeufsTer7)
c.3116_3126dup (p.Gly1043LeufsTer7)
n.4254_4264dup
c.4013_4023dup (p.Gly1342LeufsTer7)
c.3089_3099dup (p.Gly1034LeufsTer7)
n.4236_4246dup
 gnomAD v4
18g.45910563G>ACA8948970EPG5n.2347C>T
c.4163C>T (p.Pro1388Leu)
c.3903C>T (n.3903C>T)
n.942C>T
c.788C>T (p.Pro263Leu)
n.4198C>T
c.4190C>T (p.Pro1397Leu)
c.4049C>T (p.Pro1350Leu)
c.3125C>T (p.Pro1042Leu)
n.4263C>T
c.4022C>T (p.Pro1341Leu)
c.3098C>T (p.Pro1033Leu)
n.4245C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.45910563G>CCA402339861EPG5n.2347C>G
c.4163C>G (p.Pro1388Arg)
c.3903C>G (n.3903C>G)
n.942C>G
c.788C>G (p.Pro263Arg)
n.4198C>G
c.4190C>G (p.Pro1397Arg)
c.4049C>G (p.Pro1350Arg)
c.3125C>G (p.Pro1042Arg)
n.4263C>G
c.4022C>G (p.Pro1341Arg)
c.3098C>G (p.Pro1033Arg)
n.4245C>G
 gnomAD v4
18g.45910563G=CA2300590857EPG5n.2347C=
c.4163C= (p.Pro1388=)
c.3903C= (n.3903C=)
n.942C=
c.788C= (p.Pro263=)
n.4198C=
c.4190C= (p.Pro1397=)
c.4049C= (p.Pro1350=)
c.3125C= (p.Pro1042=)
n.4263C=
c.4022C= (p.Pro1341=)
c.3098C= (p.Pro1033=)
n.4245C=
18g.45910563G>TCA402339863EPG5n.2347C>A
c.4163C>A (p.Pro1388His)
c.3903C>A (n.3903C>A)
n.942C>A
c.788C>A (p.Pro263His)
n.4198C>A
c.4190C>A (p.Pro1397His)
c.4049C>A (p.Pro1350His)
c.3125C>A (p.Pro1042His)
n.4263C>A
c.4022C>A (p.Pro1341His)
c.3098C>A (p.Pro1033His)
n.4245C>A
18g.45910566dupCA2300590856EPG5n.2347dup
c.4163dup (p.Gly1389TrpfsTer26)
c.3903dup (n.3903dup)
n.942dup
c.788dup (p.Gly264TrpfsTer26)
n.4198dup
c.4190dup (p.Gly1398TrpfsTer26)
c.4049dup (p.Gly1351TrpfsTer26)
c.3125dup (p.Gly1043TrpfsTer26)
n.4263dup
c.4022dup (p.Gly1342TrpfsTer26)
c.3098dup (p.Gly1034TrpfsTer26)
n.4245dup
 dbSNP
18g.45910564G>ACA402339866EPG5n.2346C>T
c.4162C>T (p.Pro1388Ser)
c.3902C>T (n.3902C>T)
n.941C>T
c.787C>T (p.Pro263Ser)
n.4197C>T
c.4189C>T (p.Pro1397Ser)
c.4048C>T (p.Pro1350Ser)
c.3124C>T (p.Pro1042Ser)
n.4262C>T
c.4021C>T (p.Pro1341Ser)
c.3097C>T (p.Pro1033Ser)
n.4244C>T
18g.45910564G>CCA402339870EPG5n.2346C>G
c.4162C>G (p.Pro1388Ala)
c.3902C>G (n.3902C>G)
n.941C>G
c.787C>G (p.Pro263Ala)
n.4197C>G
c.4189C>G (p.Pro1397Ala)
c.4048C>G (p.Pro1350Ala)
c.3124C>G (p.Pro1042Ala)
n.4262C>G
c.4021C>G (p.Pro1341Ala)
c.3097C>G (p.Pro1033Ala)
n.4244C>G
18g.45910564G>TCA402339868EPG5n.2346C>A
c.4162C>A (p.Pro1388Thr)
c.3902C>A (n.3902C>A)
n.941C>A
c.787C>A (p.Pro263Thr)
n.4197C>A
c.4189C>A (p.Pro1397Thr)
c.4048C>A (p.Pro1350Thr)
c.3124C>A (p.Pro1042Thr)
n.4262C>A
c.4021C>A (p.Pro1341Thr)
c.3097C>A (p.Pro1033Thr)
n.4244C>A
18g.45910565G>ACA503793671EPG5n.2345C>T
c.4161C>T (p.Thr1387=)
c.3901C>T (n.3901C>T)
n.940C>T
c.786C>T (p.Thr262=)
n.4196C>T
c.4188C>T (p.Thr1396=)
c.4047C>T (p.Thr1349=)
c.3123C>T (p.Thr1041=)
n.4261C>T
c.4020C>T (p.Thr1340=)
c.3096C>T (p.Thr1032=)
n.4243C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.45910565G>CCA503793672EPG5n.2345C>G
c.4161C>G (p.Thr1387=)
c.3901C>G (n.3901C>G)
n.940C>G
c.786C>G (p.Thr262=)
n.4196C>G
c.4188C>G (p.Thr1396=)
c.4047C>G (p.Thr1349=)
c.3123C>G (p.Thr1041=)
n.4261C>G
c.4020C>G (p.Thr1340=)
c.3096C>G (p.Thr1032=)
n.4243C>G
 ClinVar gnomAD v4
18g.45910565G=CA2300590858EPG5n.2345C=
c.4161C= (p.Thr1387=)
c.3901C= (n.3901C=)
n.940C=
c.786C= (p.Thr262=)
n.4196C=
c.4188C= (p.Thr1396=)
c.4047C= (p.Thr1349=)
c.3123C= (p.Thr1041=)
n.4261C=
c.4020C= (p.Thr1340=)
c.3096C= (p.Thr1032=)
n.4243C=
18g.45910565G>TCA8948971EPG5n.2345C>A
c.4161C>A (p.Thr1387=)
c.3901C>A (n.3901C>A)
n.940C>A
c.786C>A (p.Thr262=)
n.4196C>A
c.4188C>A (p.Thr1396=)
c.4047C>A (p.Thr1349=)
c.3123C>A (p.Thr1041=)
n.4261C>A
c.4020C>A (p.Thr1340=)
c.3096C>A (p.Thr1032=)
n.4243C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910566G>ACA8948972EPG5n.2344C>T
c.4160C>T (p.Thr1387Ile)
c.3900C>T (n.3900C>T)
n.939C>T
c.785C>T (p.Thr262Ile)
n.4195C>T
c.4187C>T (p.Thr1396Ile)
c.4046C>T (p.Thr1349Ile)
c.3122C>T (p.Thr1041Ile)
n.4260C>T
c.4019C>T (p.Thr1340Ile)
c.3095C>T (p.Thr1032Ile)
n.4242C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910566G>CCA402339874EPG5n.2344C>G
c.4160C>G (p.Thr1387Ser)
c.3900C>G (n.3900C>G)
n.939C>G
c.785C>G (p.Thr262Ser)
n.4195C>G
c.4187C>G (p.Thr1396Ser)
c.4046C>G (p.Thr1349Ser)
c.3122C>G (p.Thr1041Ser)
n.4260C>G
c.4019C>G (p.Thr1340Ser)
c.3095C>G (p.Thr1032Ser)
n.4242C>G
18g.45910566G=CA2300590859EPG5n.2344C=
c.4160C= (p.Thr1387=)
c.3900C= (n.3900C=)
n.939C=
c.785C= (p.Thr262=)
n.4195C=
c.4187C= (p.Thr1396=)
c.4046C= (p.Thr1349=)
c.3122C= (p.Thr1041=)
n.4260C=
c.4019C= (p.Thr1340=)
c.3095C= (p.Thr1032=)
n.4242C=
18g.45910566G>TCA402339875EPG5n.2344C>A
c.4160C>A (p.Thr1387Asn)
c.3900C>A (n.3900C>A)
n.939C>A
c.785C>A (p.Thr262Asn)
n.4195C>A
c.4187C>A (p.Thr1396Asn)
c.4046C>A (p.Thr1349Asn)
c.3122C>A (p.Thr1041Asn)
n.4260C>A
c.4019C>A (p.Thr1340Asn)
c.3095C>A (p.Thr1032Asn)
n.4242C>A
18g.45910567T>ACA402339877EPG5n.2343A>T
c.4159A>T (p.Thr1387Ser)
c.3899A>T (n.3899A>T)
n.938A>T
c.784A>T (p.Thr262Ser)
n.4194A>T
c.4186A>T (p.Thr1396Ser)
c.4045A>T (p.Thr1349Ser)
c.3121A>T (p.Thr1041Ser)
n.4259A>T
c.4018A>T (p.Thr1340Ser)
c.3094A>T (p.Thr1032Ser)
n.4241A>T
18g.45910567T>CCA402339879EPG5n.2343A>G
c.4159A>G (p.Thr1387Ala)
c.3899A>G (n.3899A>G)
n.938A>G
c.784A>G (p.Thr262Ala)
n.4194A>G
c.4186A>G (p.Thr1396Ala)
c.4045A>G (p.Thr1349Ala)
c.3121A>G (p.Thr1041Ala)
n.4259A>G
c.4018A>G (p.Thr1340Ala)
c.3094A>G (p.Thr1032Ala)
n.4241A>G
 gnomAD v4
18g.45910567T>GCA402339881EPG5n.2343A>C
c.4159A>C (p.Thr1387Pro)
c.3899A>C (n.3899A>C)
n.938A>C
c.784A>C (p.Thr262Pro)
n.4194A>C
c.4186A>C (p.Thr1396Pro)
c.4045A>C (p.Thr1349Pro)
c.3121A>C (p.Thr1041Pro)
n.4259A>C
c.4018A>C (p.Thr1340Pro)
c.3094A>C (p.Thr1032Pro)
n.4241A>C
18g.45910568G>ACA503793673EPG5n.2342C>T
c.4158C>T (p.Gly1386=)
c.3898C>T (n.3898C>T)
n.937C>T
c.783C>T (p.Gly261=)
n.4193C>T
c.4185C>T (p.Gly1395=)
c.4044C>T (p.Gly1348=)
c.3120C>T (p.Gly1040=)
n.4258C>T
c.4017C>T (p.Gly1339=)
c.3093C>T (p.Gly1031=)
n.4240C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.45910568G>CCA503793674EPG5n.2342C>G
c.4158C>G (p.Gly1386=)
c.3898C>G (n.3898C>G)
n.937C>G
c.783C>G (p.Gly261=)
n.4193C>G
c.4185C>G (p.Gly1395=)
c.4044C>G (p.Gly1348=)
c.3120C>G (p.Gly1040=)
n.4258C>G
c.4017C>G (p.Gly1339=)
c.3093C>G (p.Gly1031=)
n.4240C>G
18g.45910568G=CA2300590860EPG5n.2342C=
c.4158C= (p.Gly1386=)
c.3898C= (n.3898C=)
n.937C=
c.783C= (p.Gly261=)
n.4193C=
c.4185C= (p.Gly1395=)
c.4044C= (p.Gly1348=)
c.3120C= (p.Gly1040=)
n.4258C=
c.4017C= (p.Gly1339=)
c.3093C= (p.Gly1031=)
n.4240C=
18g.45910568G>TCA503793675EPG5n.2342C>A
c.4158C>A (p.Gly1386=)
c.3898C>A (n.3898C>A)
n.937C>A
c.783C>A (p.Gly261=)
n.4193C>A
c.4185C>A (p.Gly1395=)
c.4044C>A (p.Gly1348=)
c.3120C>A (p.Gly1040=)
n.4258C>A
c.4017C>A (p.Gly1339=)
c.3093C>A (p.Gly1031=)
n.4240C>A
18g.45910569C>ACA402339883EPG5n.2341G>T
c.4157G>T (p.Gly1386Val)
c.3897G>T (n.3897G>T)
n.936G>T
c.782G>T (p.Gly261Val)
n.4192G>T
c.4184G>T (p.Gly1395Val)
c.4043G>T (p.Gly1348Val)
c.3119G>T (p.Gly1040Val)
n.4257G>T
c.4016G>T (p.Gly1339Val)
c.3092G>T (p.Gly1031Val)
n.4239G>T
 COSMIC
18g.45910569C>GCA402339885EPG5n.2341G>C
c.4157G>C (p.Gly1386Ala)
c.3897G>C (n.3897G>C)
n.936G>C
c.782G>C (p.Gly261Ala)
n.4192G>C
c.4184G>C (p.Gly1395Ala)
c.4043G>C (p.Gly1348Ala)
c.3119G>C (p.Gly1040Ala)
n.4257G>C
c.4016G>C (p.Gly1339Ala)
c.3092G>C (p.Gly1031Ala)
n.4239G>C
18g.45910569C>TCA402339887EPG5n.2341G>A
c.4157G>A (p.Gly1386Asp)
c.3897G>A (n.3897G>A)
n.936G>A
c.782G>A (p.Gly261Asp)
n.4192G>A
c.4184G>A (p.Gly1395Asp)
c.4043G>A (p.Gly1348Asp)
c.3119G>A (p.Gly1040Asp)
n.4257G>A
c.4016G>A (p.Gly1339Asp)
c.3092G>A (p.Gly1031Asp)
n.4239G>A
18g.45910570C>ACA402339889EPG5n.2340G>T
c.4156G>T (p.Gly1386Cys)
c.3896G>T (n.3896G>T)
n.935G>T
c.781G>T (p.Gly261Cys)
n.4191G>T
c.4183G>T (p.Gly1395Cys)
c.4042G>T (p.Gly1348Cys)
c.3118G>T (p.Gly1040Cys)
n.4256G>T
c.4015G>T (p.Gly1339Cys)
c.3091G>T (p.Gly1031Cys)
n.4238G>T
18g.45910570C>GCA402339891EPG5n.2340G>C
c.4156G>C (p.Gly1386Arg)
c.3896G>C (n.3896G>C)
n.935G>C
c.781G>C (p.Gly261Arg)
n.4191G>C
c.4183G>C (p.Gly1395Arg)
c.4042G>C (p.Gly1348Arg)
c.3118G>C (p.Gly1040Arg)
n.4256G>C
c.4015G>C (p.Gly1339Arg)
c.3091G>C (p.Gly1031Arg)
n.4238G>C
 gnomAD v4
18g.45910570C>TCA402339893EPG5n.2340G>A
c.4156G>A (p.Gly1386Ser)
c.3896G>A (n.3896G>A)
n.935G>A
c.781G>A (p.Gly261Ser)
n.4191G>A
c.4183G>A (p.Gly1395Ser)
c.4042G>A (p.Gly1348Ser)
c.3118G>A (p.Gly1040Ser)
n.4256G>A
c.4015G>A (p.Gly1339Ser)
c.3091G>A (p.Gly1031Ser)
n.4238G>A
18g.45910571A=CA2300590861EPG5n.2339T=
c.4155T= (p.Ser1385=)
c.3895T= (n.3895T=)
n.934T=
c.780T= (p.Ser260=)
n.4190T=
c.4182T= (p.Ser1394=)
c.4041T= (p.Ser1347=)
c.3117T= (p.Ser1039=)
n.4255T=
c.4014T= (p.Ser1338=)
c.3090T= (p.Ser1030=)
n.4237T=
18g.45910571A>CCA299760372EPG5n.2339T>G
c.4155T>G (p.Ser1385=)
c.3895T>G (n.3895T>G)
n.934T>G
c.780T>G (p.Ser260=)
n.4190T>G
c.4182T>G (p.Ser1394=)
c.4041T>G (p.Ser1347=)
c.3117T>G (p.Ser1039=)
n.4255T>G
c.4014T>G (p.Ser1338=)
c.3090T>G (p.Ser1030=)
n.4237T>G
 dbSNP
18g.45910571A>GCA8948973EPG5n.2339T>C
c.4155T>C (p.Ser1385=)
c.3895T>C (n.3895T>C)
n.934T>C
c.780T>C (p.Ser260=)
n.4190T>C
c.4182T>C (p.Ser1394=)
c.4041T>C (p.Ser1347=)
c.3117T>C (p.Ser1039=)
n.4255T>C
c.4014T>C (p.Ser1338=)
c.3090T>C (p.Ser1030=)
n.4237T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.45910571A>TCA503793676EPG5n.2339T>A
c.4155T>A (p.Ser1385=)
c.3895T>A (n.3895T>A)
n.934T>A
c.780T>A (p.Ser260=)
n.4190T>A
c.4182T>A (p.Ser1394=)
c.4041T>A (p.Ser1347=)
c.3117T>A (p.Ser1039=)
n.4255T>A
c.4014T>A (p.Ser1338=)
c.3090T>A (p.Ser1030=)
n.4237T>A
18g.45910572G>ACA402339897EPG5n.2338C>T
c.4154C>T (p.Ser1385Phe)
c.3894C>T (n.3894C>T)
n.933C>T
c.779C>T (p.Ser260Phe)
n.4189C>T
c.4181C>T (p.Ser1394Phe)
c.4040C>T (p.Ser1347Phe)
c.3116C>T (p.Ser1039Phe)
n.4254C>T
c.4013C>T (p.Ser1338Phe)
c.3089C>T (p.Ser1030Phe)
n.4236C>T
18g.45910572G>CCA8948974EPG5n.2338C>G
c.4154C>G (p.Ser1385Cys)
c.3894C>G (n.3894C>G)
n.933C>G
c.779C>G (p.Ser260Cys)
n.4189C>G
c.4181C>G (p.Ser1394Cys)
c.4040C>G (p.Ser1347Cys)
c.3116C>G (p.Ser1039Cys)
n.4254C>G
c.4013C>G (p.Ser1338Cys)
c.3089C>G (p.Ser1030Cys)
n.4236C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.45910572G=CA2300590862EPG5n.2338C=
c.4154C= (p.Ser1385=)
c.3894C= (n.3894C=)
n.933C=
c.779C= (p.Ser260=)
n.4189C=
c.4181C= (p.Ser1394=)
c.4040C= (p.Ser1347=)
c.3116C= (p.Ser1039=)
n.4254C=
c.4013C= (p.Ser1338=)
c.3089C= (p.Ser1030=)
n.4236C=
18g.45910572G>TCA402339900EPG5n.2338C>A
c.4154C>A (p.Ser1385Tyr)
c.3894C>A (n.3894C>A)
n.933C>A
c.779C>A (p.Ser260Tyr)
n.4189C>A
c.4181C>A (p.Ser1394Tyr)
c.4040C>A (p.Ser1347Tyr)
c.3116C>A (p.Ser1039Tyr)
n.4254C>A
c.4013C>A (p.Ser1338Tyr)
c.3089C>A (p.Ser1030Tyr)
n.4236C>A
18g.45910573A>CCA402339902EPG5n.2337T>G
c.4153T>G (p.Ser1385Ala)
c.3893T>G (n.3893T>G)
n.932T>G
c.778T>G (p.Ser260Ala)
n.4188T>G
c.4180T>G (p.Ser1394Ala)
c.4039T>G (p.Ser1347Ala)
c.3115T>G (p.Ser1039Ala)
n.4253T>G
c.4012T>G (p.Ser1338Ala)
c.3088T>G (p.Ser1030Ala)
n.4235T>G
18g.45910573A>GCA402339904EPG5n.2337T>C
c.4153T>C (p.Ser1385Pro)
c.3893T>C (n.3893T>C)
n.932T>C
c.778T>C (p.Ser260Pro)
n.4188T>C
c.4180T>C (p.Ser1394Pro)
c.4039T>C (p.Ser1347Pro)
c.3115T>C (p.Ser1039Pro)
n.4253T>C
c.4012T>C (p.Ser1338Pro)
c.3088T>C (p.Ser1030Pro)
n.4235T>C
18g.45910573A>TCA402339905EPG5n.2337T>A
c.4153T>A (p.Ser1385Thr)
c.3893T>A (n.3893T>A)
n.932T>A
c.778T>A (p.Ser260Thr)
n.4188T>A
c.4180T>A (p.Ser1394Thr)
c.4039T>A (p.Ser1347Thr)
c.3115T>A (p.Ser1039Thr)
n.4253T>A
c.4012T>A (p.Ser1338Thr)
c.3088T>A (p.Ser1030Thr)
n.4235T>A
18g.45910574G>ACA503793678EPG5n.2336C>T
c.4152C>T (p.His1384=)
c.3892C>T (n.3892C>T)
n.931C>T
c.777C>T (p.His259=)
n.4187C>T
c.4179C>T (p.His1393=)
c.4038C>T (p.His1346=)
c.3114C>T (p.His1038=)
n.4252C>T
c.4011C>T (p.His1337=)
c.3087C>T (p.His1029=)
n.4234C>T
 ClinVar gnomAD v4
18g.45910574G>CCA8948975EPG5n.2336C>G
c.4152C>G (p.His1384Gln)
c.3892C>G (n.3892C>G)
n.931C>G
c.777C>G (p.His259Gln)
n.4187C>G
c.4179C>G (p.His1393Gln)
c.4038C>G (p.His1346Gln)
c.3114C>G (p.His1038Gln)
n.4252C>G
c.4011C>G (p.His1337Gln)
c.3087C>G (p.His1029Gln)
n.4234C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.45910574G=CA2300590863EPG5n.2336C=
c.4152C= (p.His1384=)
c.3892C= (n.3892C=)
n.931C=
c.777C= (p.His259=)
n.4187C=
c.4179C= (p.His1393=)
c.4038C= (p.His1346=)
c.3114C= (p.His1038=)
n.4252C=
c.4011C= (p.His1337=)
c.3087C= (p.His1029=)
n.4234C=
18g.45910574G>TCA402339907EPG5n.2336C>A
c.4152C>A (p.His1384Gln)
c.3892C>A (n.3892C>A)
n.931C>A
c.777C>A (p.His259Gln)
n.4187C>A
c.4179C>A (p.His1393Gln)
c.4038C>A (p.His1346Gln)
c.3114C>A (p.His1038Gln)
n.4252C>A
c.4011C>A (p.His1337Gln)
c.3087C>A (p.His1029Gln)
n.4234C>A
18g.45910575T>ACA402339909EPG5n.2335A>T
c.4151A>T (p.His1384Leu)
c.3891A>T (n.3891A>T)
n.930A>T
c.776A>T (p.His259Leu)
n.4186A>T
c.4178A>T (p.His1393Leu)
c.4037A>T (p.His1346Leu)
c.3113A>T (p.His1038Leu)
n.4251A>T
c.4010A>T (p.His1337Leu)
c.3086A>T (p.His1029Leu)
n.4233A>T
18g.45910575T>CCA402339911EPG5n.2335A>G
c.4151A>G (p.His1384Arg)
c.3891A>G (n.3891A>G)
n.930A>G
c.776A>G (p.His259Arg)
n.4186A>G
c.4178A>G (p.His1393Arg)
c.4037A>G (p.His1346Arg)
c.3113A>G (p.His1038Arg)
n.4251A>G
c.4010A>G (p.His1337Arg)
c.3086A>G (p.His1029Arg)
n.4233A>G
18g.45910575T>GCA402339913EPG5n.2335A>C
c.4151A>C (p.His1384Pro)
c.3891A>C (n.3891A>C)
n.930A>C
c.776A>C (p.His259Pro)
n.4186A>C
c.4178A>C (p.His1393Pro)
c.4037A>C (p.His1346Pro)
c.3113A>C (p.His1038Pro)
n.4251A>C
c.4010A>C (p.His1337Pro)
c.3086A>C (p.His1029Pro)
n.4233A>C
18g.45910576G>ACA402339919EPG5n.2334C>T
c.4150C>T (p.His1384Tyr)
c.3890C>T (n.3890C>T)
n.929C>T
c.775C>T (p.His259Tyr)
n.4185C>T
c.4177C>T (p.His1393Tyr)
c.4036C>T (p.His1346Tyr)
c.3112C>T (p.His1038Tyr)
n.4250C>T
c.4009C>T (p.His1337Tyr)
c.3085C>T (p.His1029Tyr)
n.4232C>T
 gnomAD v4 COSMIC
18g.45910576G>CCA402339917EPG5n.2334C>G
c.4150C>G (p.His1384Asp)
c.3890C>G (n.3890C>G)
n.929C>G
c.775C>G (p.His259Asp)
n.4185C>G
c.4177C>G (p.His1393Asp)
c.4036C>G (p.His1346Asp)
c.3112C>G (p.His1038Asp)
n.4250C>G
c.4009C>G (p.His1337Asp)
c.3085C>G (p.His1029Asp)
n.4232C>G
18g.45910576G>TCA402339915EPG5n.2334C>A
c.4150C>A (p.His1384Asn)
c.3890C>A (n.3890C>A)
n.929C>A
c.775C>A (p.His259Asn)
n.4185C>A
c.4177C>A (p.His1393Asn)
c.4036C>A (p.His1346Asn)
c.3112C>A (p.His1038Asn)
n.4250C>A
c.4009C>A (p.His1337Asn)
c.3085C>A (p.His1029Asn)
n.4232C>A
18g.45910577G>ACA503793680EPG5n.2333C>T
c.4149C>T (p.Ser1383=)
c.3889C>T (n.3889C>T)
n.928C>T
c.774C>T (p.Ser258=)
n.4184C>T
c.4176C>T (p.Ser1392=)
c.4035C>T (p.Ser1345=)
c.3111C>T (p.Ser1037=)
n.4249C>T
c.4008C>T (p.Ser1336=)
c.3084C>T (p.Ser1028=)
n.4231C>T
18g.45910577G>CCA402339923EPG5n.2333C>G
c.4149C>G (p.Ser1383Arg)
c.3889C>G (n.3889C>G)
n.928C>G
c.774C>G (p.Ser258Arg)
n.4184C>G
c.4176C>G (p.Ser1392Arg)
c.4035C>G (p.Ser1345Arg)
c.3111C>G (p.Ser1037Arg)
n.4249C>G
c.4008C>G (p.Ser1336Arg)
c.3084C>G (p.Ser1028Arg)
n.4231C>G
18g.45910577G>TCA402339922EPG5n.2333C>A
c.4149C>A (p.Ser1383Arg)
c.3889C>A (n.3889C>A)
n.928C>A
c.774C>A (p.Ser258Arg)
n.4184C>A
c.4176C>A (p.Ser1392Arg)
c.4035C>A (p.Ser1345Arg)
c.3111C>A (p.Ser1037Arg)
n.4249C>A
c.4008C>A (p.Ser1336Arg)
c.3084C>A (p.Ser1028Arg)
n.4231C>A
18g.45910578C>ACA402339926EPG5n.2332G>T
c.4148G>T (p.Ser1383Ile)
c.3888G>T (n.3888G>T)
n.927G>T
c.773G>T (p.Ser258Ile)
n.4183G>T
c.4175G>T (p.Ser1392Ile)
c.4034G>T (p.Ser1345Ile)
c.3110G>T (p.Ser1037Ile)
n.4248G>T
c.4007G>T (p.Ser1336Ile)
c.3083G>T (p.Ser1028Ile)
n.4230G>T
18g.45910578C=CA2300590864EPG5n.2332G=
c.4148G= (p.Ser1383=)
c.3888G= (n.3888G=)
n.927G=
c.773G= (p.Ser258=)
n.4183G=
c.4175G= (p.Ser1392=)
c.4034G= (p.Ser1345=)
c.3110G= (p.Ser1037=)
n.4248G=
c.4007G= (p.Ser1336=)
c.3083G= (p.Ser1028=)
n.4230G=
18g.45910578C>GCA402339928EPG5n.2332G>C
c.4148G>C (p.Ser1383Thr)
c.3888G>C (n.3888G>C)
n.927G>C
c.773G>C (p.Ser258Thr)
n.4183G>C
c.4175G>C (p.Ser1392Thr)
c.4034G>C (p.Ser1345Thr)
c.3110G>C (p.Ser1037Thr)
n.4248G>C
c.4007G>C (p.Ser1336Thr)
c.3083G>C (p.Ser1028Thr)
n.4230G>C
18g.45910578C>TCA8948976EPG5n.2332G>A
c.4148G>A (p.Ser1383Asn)
c.3888G>A (n.3888G>A)
n.927G>A
c.773G>A (p.Ser258Asn)
n.4183G>A
c.4175G>A (p.Ser1392Asn)
c.4034G>A (p.Ser1345Asn)
c.3110G>A (p.Ser1037Asn)
n.4248G>A
c.4007G>A (p.Ser1336Asn)
c.3083G>A (p.Ser1028Asn)
n.4230G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910579T>ACA402339931EPG5n.2331A>T
c.4147A>T (p.Ser1383Cys)
c.3887A>T (n.3887A>T)
n.926A>T
c.772A>T (p.Ser258Cys)
n.4182A>T
c.4174A>T (p.Ser1392Cys)
c.4033A>T (p.Ser1345Cys)
c.3109A>T (p.Ser1037Cys)
n.4247A>T
c.4006A>T (p.Ser1336Cys)
c.3082A>T (p.Ser1028Cys)
n.4229A>T
 gnomAD v4
18g.45910579T>CCA402339933EPG5n.2331A>G
c.4147A>G (p.Ser1383Gly)
c.3887A>G (n.3887A>G)
n.926A>G
c.772A>G (p.Ser258Gly)
n.4182A>G
c.4174A>G (p.Ser1392Gly)
c.4033A>G (p.Ser1345Gly)
c.3109A>G (p.Ser1037Gly)
n.4247A>G
c.4006A>G (p.Ser1336Gly)
c.3082A>G (p.Ser1028Gly)
n.4229A>G
18g.45910579T>GCA402339934EPG5n.2331A>C
c.4147A>C (p.Ser1383Arg)
c.3887A>C (n.3887A>C)
n.926A>C
c.772A>C (p.Ser258Arg)
n.4182A>C
c.4174A>C (p.Ser1392Arg)
c.4033A>C (p.Ser1345Arg)
c.3109A>C (p.Ser1037Arg)
n.4247A>C
c.4006A>C (p.Ser1336Arg)
c.3082A>C (p.Ser1028Arg)
n.4229A>C
18g.45910580C>ACA402339937EPG5n.2330G>T
c.4146G>T (p.Glu1382Asp)
c.3886G>T (n.3886G>T)
n.925G>T
c.771G>T (p.Glu257Asp)
n.4181G>T
c.4173G>T (p.Glu1391Asp)
c.4032G>T (p.Glu1344Asp)
c.3108G>T (p.Glu1036Asp)
n.4246G>T
c.4005G>T (p.Glu1335Asp)
c.3081G>T (p.Glu1027Asp)
n.4228G>T
18g.45910580C>GCA402339939EPG5n.2330G>C
c.4146G>C (p.Glu1382Asp)
c.3886G>C (n.3886G>C)
n.925G>C
c.771G>C (p.Glu257Asp)
n.4181G>C
c.4173G>C (p.Glu1391Asp)
c.4032G>C (p.Glu1344Asp)
c.3108G>C (p.Glu1036Asp)
n.4246G>C
c.4005G>C (p.Glu1335Asp)
c.3081G>C (p.Glu1027Asp)
n.4228G>C
18g.45910580C>TCA503793684EPG5n.2330G>A
c.4146G>A (p.Glu1382=)
c.3886G>A (n.3886G>A)
n.925G>A
c.771G>A (p.Glu257=)
n.4181G>A
c.4173G>A (p.Glu1391=)
c.4032G>A (p.Glu1344=)
c.3108G>A (p.Glu1036=)
n.4246G>A
c.4005G>A (p.Glu1335=)
c.3081G>A (p.Glu1027=)
n.4228G>A
18g.45910581T>ACA402339940EPG5n.2329A>T
c.4145A>T (p.Glu1382Val)
c.3885A>T (n.3885A>T)
n.924A>T
c.770A>T (p.Glu257Val)
n.4180A>T
c.4172A>T (p.Glu1391Val)
c.4031A>T (p.Glu1344Val)
c.3107A>T (p.Glu1036Val)
n.4245A>T
c.4004A>T (p.Glu1335Val)
c.3080A>T (p.Glu1027Val)
n.4227A>T
18g.45910581T>CCA402339942EPG5n.2329A>G
c.4145A>G (p.Glu1382Gly)
c.3885A>G (n.3885A>G)
n.924A>G
c.770A>G (p.Glu257Gly)
n.4180A>G
c.4172A>G (p.Glu1391Gly)
c.4031A>G (p.Glu1344Gly)
c.3107A>G (p.Glu1036Gly)
n.4245A>G
c.4004A>G (p.Glu1335Gly)
c.3080A>G (p.Glu1027Gly)
n.4227A>G
 dbSNP gnomAD v2 gnomAD v4
18g.45910581T>GCA402339944EPG5n.2329A>C
c.4145A>C (p.Glu1382Ala)
c.3885A>C (n.3885A>C)
n.924A>C
c.770A>C (p.Glu257Ala)
n.4180A>C
c.4172A>C (p.Glu1391Ala)
c.4031A>C (p.Glu1344Ala)
c.3107A>C (p.Glu1036Ala)
n.4245A>C
c.4004A>C (p.Glu1335Ala)
c.3080A>C (p.Glu1027Ala)
n.4227A>C
18g.45910581T=CA2300590865EPG5n.2329A=
c.4145A= (p.Glu1382=)
c.3885A= (n.3885A=)
n.924A=
c.770A= (p.Glu257=)
n.4180A=
c.4172A= (p.Glu1391=)
c.4031A= (p.Glu1344=)
c.3107A= (p.Glu1036=)
n.4245A=
c.4004A= (p.Glu1335=)
c.3080A= (p.Glu1027=)
n.4227A=
18g.45910582C>ACA402339948EPG5n.2328G>T
c.4144G>T (p.Glu1382Ter)
c.3884G>T (n.3884G>T)
n.923G>T
c.769G>T (p.Glu257Ter)
n.4179G>T
c.4171G>T (p.Glu1391Ter)
c.4030G>T (p.Glu1344Ter)
c.3106G>T (p.Glu1036Ter)
n.4244G>T
c.4003G>T (p.Glu1335Ter)
c.3079G>T (p.Glu1027Ter)
n.4226G>T
18g.45910582C>GCA402339950EPG5n.2328G>C
c.4144G>C (p.Glu1382Gln)
c.3884G>C (n.3884G>C)
n.923G>C
c.769G>C (p.Glu257Gln)
n.4179G>C
c.4171G>C (p.Glu1391Gln)
c.4030G>C (p.Glu1344Gln)
c.3106G>C (p.Glu1036Gln)
n.4244G>C
c.4003G>C (p.Glu1335Gln)
c.3079G>C (p.Glu1027Gln)
n.4226G>C
18g.45910582C>TCA402339946EPG5n.2328G>A
c.4144G>A (p.Glu1382Lys)
c.3884G>A (n.3884G>A)
n.923G>A
c.769G>A (p.Glu257Lys)
n.4179G>A
c.4171G>A (p.Glu1391Lys)
c.4030G>A (p.Glu1344Lys)
c.3106G>A (p.Glu1036Lys)
n.4244G>A
c.4003G>A (p.Glu1335Lys)
c.3079G>A (p.Glu1027Lys)
n.4226G>A
18g.45910583T>ACA503793690EPG5n.2327A>T
c.4143A>T (p.Pro1381=)
c.3883A>T (n.3883A>T)
n.922A>T
c.768A>T (p.Pro256=)
n.4178A>T
c.4170A>T (p.Pro1390=)
c.4029A>T (p.Pro1343=)
c.3105A>T (p.Pro1035=)
n.4243A>T
c.4002A>T (p.Pro1334=)
c.3078A>T (p.Pro1026=)
n.4225A>T
18g.45910583T>CCA503793689EPG5n.2327A>G
c.4143A>G (p.Pro1381=)
c.3883A>G (n.3883A>G)
n.922A>G
c.768A>G (p.Pro256=)
n.4178A>G
c.4170A>G (p.Pro1390=)
c.4029A>G (p.Pro1343=)
c.3105A>G (p.Pro1035=)
n.4243A>G
c.4002A>G (p.Pro1334=)
c.3078A>G (p.Pro1026=)
n.4225A>G
18g.45910583T>GCA503793688EPG5n.2327A>C
c.4143A>C (p.Pro1381=)
c.3883A>C (n.3883A>C)
n.922A>C
c.768A>C (p.Pro256=)
n.4178A>C
c.4170A>C (p.Pro1390=)
c.4029A>C (p.Pro1343=)
c.3105A>C (p.Pro1035=)
n.4243A>C
c.4002A>C (p.Pro1334=)
c.3078A>C (p.Pro1026=)
n.4225A>C
 gnomAD v4
18g.45910584G>ACA402339953EPG5n.2326C>T
c.4142C>T (p.Pro1381Leu)
c.3882C>T (n.3882C>T)
n.921C>T
c.767C>T (p.Pro256Leu)
n.4177C>T
c.4169C>T (p.Pro1390Leu)
c.4028C>T (p.Pro1343Leu)
c.3104C>T (p.Pro1035Leu)
n.4242C>T
c.4001C>T (p.Pro1334Leu)
c.3077C>T (p.Pro1026Leu)
n.4224C>T
18g.45910584G>CCA402339954EPG5n.2326C>G
c.4142C>G (p.Pro1381Arg)
c.3882C>G (n.3882C>G)
n.921C>G
c.767C>G (p.Pro256Arg)
n.4177C>G
c.4169C>G (p.Pro1390Arg)
c.4028C>G (p.Pro1343Arg)
c.3104C>G (p.Pro1035Arg)
n.4242C>G
c.4001C>G (p.Pro1334Arg)
c.3077C>G (p.Pro1026Arg)
n.4224C>G
18g.45910584G>TCA402339956EPG5n.2326C>A
c.4142C>A (p.Pro1381Gln)
c.3882C>A (n.3882C>A)
n.921C>A
c.767C>A (p.Pro256Gln)
n.4177C>A
c.4169C>A (p.Pro1390Gln)
c.4028C>A (p.Pro1343Gln)
c.3104C>A (p.Pro1035Gln)
n.4242C>A
c.4001C>A (p.Pro1334Gln)
c.3077C>A (p.Pro1026Gln)
n.4224C>A
18g.45910585G>ACA402339959EPG5n.2325C>T
c.4141C>T (p.Pro1381Ser)
c.3881C>T (n.3881C>T)
n.920C>T
c.766C>T (p.Pro256Ser)
n.4176C>T
c.4168C>T (p.Pro1390Ser)
c.4027C>T (p.Pro1343Ser)
c.3103C>T (p.Pro1035Ser)
n.4241C>T
c.4000C>T (p.Pro1334Ser)
c.3076C>T (p.Pro1026Ser)
n.4223C>T
 gnomAD v4
18g.45910585G>CCA402339960EPG5n.2325C>G
c.4141C>G (p.Pro1381Ala)
c.3881C>G (n.3881C>G)
n.920C>G
c.766C>G (p.Pro256Ala)
n.4176C>G
c.4168C>G (p.Pro1390Ala)
c.4027C>G (p.Pro1343Ala)
c.3103C>G (p.Pro1035Ala)
n.4241C>G
c.4000C>G (p.Pro1334Ala)
c.3076C>G (p.Pro1026Ala)
n.4223C>G
18g.45910585G>TCA402339962EPG5n.2325C>A
c.4141C>A (p.Pro1381Thr)
c.3881C>A (n.3881C>A)
n.920C>A
c.766C>A (p.Pro256Thr)
n.4176C>A
c.4168C>A (p.Pro1390Thr)
c.4027C>A (p.Pro1343Thr)
c.3103C>A (p.Pro1035Thr)
n.4241C>A
c.4000C>A (p.Pro1334Thr)
c.3076C>A (p.Pro1026Thr)
n.4223C>A
18g.45910586C>ACA503793693EPG5n.2324G>T
c.4140G>T (p.Leu1380=)
c.3880G>T (n.3880G>T)
n.919G>T
c.765G>T (p.Leu255=)
n.4175G>T
c.4167G>T (p.Leu1389=)
c.4026G>T (p.Leu1342=)
c.3102G>T (p.Leu1034=)
n.4240G>T
c.3999G>T (p.Leu1333=)
c.3075G>T (p.Leu1025=)
n.4222G>T
 gnomAD v4
18g.45910586C>GCA503793695EPG5n.2324G>C
c.4140G>C (p.Leu1380=)
c.3880G>C (n.3880G>C)
n.919G>C
c.765G>C (p.Leu255=)
n.4175G>C
c.4167G>C (p.Leu1389=)
c.4026G>C (p.Leu1342=)
c.3102G>C (p.Leu1034=)
n.4240G>C
c.3999G>C (p.Leu1333=)
c.3075G>C (p.Leu1025=)
n.4222G>C
18g.45910586C>TCA503793694EPG5n.2324G>A
c.4140G>A (p.Leu1380=)
c.3880G>A (n.3880G>A)
n.919G>A
c.765G>A (p.Leu255=)
n.4175G>A
c.4167G>A (p.Leu1389=)
c.4026G>A (p.Leu1342=)
c.3102G>A (p.Leu1034=)
n.4240G>A
c.3999G>A (p.Leu1333=)
c.3075G>A (p.Leu1025=)
n.4222G>A
18g.45910587A>CCA402339964EPG5n.2323T>G
c.4139T>G (p.Leu1380Arg)
c.3879T>G (n.3879T>G)
n.918T>G
c.764T>G (p.Leu255Arg)
n.4174T>G
c.4166T>G (p.Leu1389Arg)
c.4025T>G (p.Leu1342Arg)
c.3101T>G (p.Leu1034Arg)
n.4239T>G
c.3998T>G (p.Leu1333Arg)
c.3074T>G (p.Leu1025Arg)
n.4221T>G
18g.45910587A>GCA402339968EPG5n.2323T>C
c.4139T>C (p.Leu1380Pro)
c.3879T>C (n.3879T>C)
n.918T>C
c.764T>C (p.Leu255Pro)
n.4174T>C
c.4166T>C (p.Leu1389Pro)
c.4025T>C (p.Leu1342Pro)
c.3101T>C (p.Leu1034Pro)
n.4239T>C
c.3998T>C (p.Leu1333Pro)
c.3074T>C (p.Leu1025Pro)
n.4221T>C
 gnomAD v4
18g.45910587A>TCA402339966EPG5n.2323T>A
c.4139T>A (p.Leu1380Gln)
c.3879T>A (n.3879T>A)
n.918T>A
c.764T>A (p.Leu255Gln)
n.4174T>A
c.4166T>A (p.Leu1389Gln)
c.4025T>A (p.Leu1342Gln)
c.3101T>A (p.Leu1034Gln)
n.4239T>A
c.3998T>A (p.Leu1333Gln)
c.3074T>A (p.Leu1025Gln)
n.4221T>A
18g.45910588G>ACA503793697EPG5n.2322C>T
c.4138C>T (p.Leu1380=)
c.3878C>T (n.3878C>T)
n.917C>T
c.763C>T (p.Leu255=)
n.4173C>T
c.4165C>T (p.Leu1389=)
c.4024C>T (p.Leu1342=)
c.3100C>T (p.Leu1034=)
n.4238C>T
c.3997C>T (p.Leu1333=)
c.3073C>T (p.Leu1025=)
n.4220C>T
18g.45910588G>CCA402339970EPG5n.2322C>G
c.4138C>G (p.Leu1380Val)
c.3878C>G (n.3878C>G)
n.917C>G
c.763C>G (p.Leu255Val)
n.4173C>G
c.4165C>G (p.Leu1389Val)
c.4024C>G (p.Leu1342Val)
c.3100C>G (p.Leu1034Val)
n.4238C>G
c.3997C>G (p.Leu1333Val)
c.3073C>G (p.Leu1025Val)
n.4220C>G
18g.45910588G>TCA402339971EPG5n.2322C>A
c.4138C>A (p.Leu1380Met)
c.3878C>A (n.3878C>A)
n.917C>A
c.763C>A (p.Leu255Met)
n.4173C>A
c.4165C>A (p.Leu1389Met)
c.4024C>A (p.Leu1342Met)
c.3100C>A (p.Leu1034Met)
n.4238C>A
c.3997C>A (p.Leu1333Met)
c.3073C>A (p.Leu1025Met)
n.4220C>A
18g.45910589C>ACA503793698EPG5n.2321G>T
c.4137G>T (p.Gly1379=)
c.3877G>T (n.3877G>T)
n.916G>T
c.762G>T (p.Gly254=)
n.4172G>T
c.4164G>T (p.Gly1388=)
c.4023G>T (p.Gly1341=)
c.3099G>T (p.Gly1033=)
n.4237G>T
c.3996G>T (p.Gly1332=)
c.3072G>T (p.Gly1024=)
n.4219G>T
18g.45910589C=CA2300590866EPG5n.2321G=
c.4137G= (p.Gly1379=)
c.3877G= (n.3877G=)
n.916G=
c.762G= (p.Gly254=)
n.4172G=
c.4164G= (p.Gly1388=)
c.4023G= (p.Gly1341=)
c.3099G= (p.Gly1033=)
n.4237G=
c.3996G= (p.Gly1332=)
c.3072G= (p.Gly1024=)
n.4219G=
18g.45910589C>GCA503793700EPG5n.2321G>C
c.4137G>C (p.Gly1379=)
c.3877G>C (n.3877G>C)
n.916G>C
c.762G>C (p.Gly254=)
n.4172G>C
c.4164G>C (p.Gly1388=)
c.4023G>C (p.Gly1341=)
c.3099G>C (p.Gly1033=)
n.4237G>C
c.3996G>C (p.Gly1332=)
c.3072G>C (p.Gly1024=)
n.4219G>C
18g.45910589C>TCA503793701EPG5n.2321G>A
c.4137G>A (p.Gly1379=)
c.3877G>A (n.3877G>A)
n.916G>A
c.762G>A (p.Gly254=)
n.4172G>A
c.4164G>A (p.Gly1388=)
c.4023G>A (p.Gly1341=)
c.3099G>A (p.Gly1033=)
n.4237G>A
c.3996G>A (p.Gly1332=)
c.3072G>A (p.Gly1024=)
n.4219G>A
 dbSNP
18g.45910590C>ACA8948977EPG5n.2320G>T
c.4136G>T (p.Gly1379Val)
c.3876G>T (n.3876G>T)
n.915G>T
c.761G>T (p.Gly254Val)
n.4171G>T
c.4163G>T (p.Gly1388Val)
c.4022G>T (p.Gly1341Val)
c.3098G>T (p.Gly1033Val)
n.4236G>T
c.3995G>T (p.Gly1332Val)
c.3071G>T (p.Gly1024Val)
n.4218G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910590C=CA2300590867EPG5n.2320G=
c.4136G= (p.Gly1379=)
c.3876G= (n.3876G=)
n.915G=
c.761G= (p.Gly254=)
n.4171G=
c.4163G= (p.Gly1388=)
c.4022G= (p.Gly1341=)
c.3098G= (p.Gly1033=)
n.4236G=
c.3995G= (p.Gly1332=)
c.3071G= (p.Gly1024=)
n.4218G=
18g.45910590C>GCA402339974EPG5n.2320G>C
c.4136G>C (p.Gly1379Ala)
c.3876G>C (n.3876G>C)
n.915G>C
c.761G>C (p.Gly254Ala)
n.4171G>C
c.4163G>C (p.Gly1388Ala)
c.4022G>C (p.Gly1341Ala)
c.3098G>C (p.Gly1033Ala)
n.4236G>C
c.3995G>C (p.Gly1332Ala)
c.3071G>C (p.Gly1024Ala)
n.4218G>C
18g.45910590C>TCA402339976EPG5n.2320G>A
c.4136G>A (p.Gly1379Glu)
c.3876G>A (n.3876G>A)
n.915G>A
c.761G>A (p.Gly254Glu)
n.4171G>A
c.4163G>A (p.Gly1388Glu)
c.4022G>A (p.Gly1341Glu)
c.3098G>A (p.Gly1033Glu)
n.4236G>A
c.3995G>A (p.Gly1332Glu)
c.3071G>A (p.Gly1024Glu)
n.4218G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.45910591C>ACA402339982EPG5n.2319G>T
c.4135G>T (p.Gly1379Trp)
c.3875G>T (n.3875G>T)
n.914G>T
c.760G>T (p.Gly254Trp)
n.4170G>T
c.4162G>T (p.Gly1388Trp)
c.4021G>T (p.Gly1341Trp)
c.3097G>T (p.Gly1033Trp)
n.4235G>T
c.3994G>T (p.Gly1332Trp)
c.3070G>T (p.Gly1024Trp)
n.4217G>T
 dbSNP gnomAD v3 gnomAD v4
18g.45910591C=CA2300590868EPG5n.2319G=
c.4135G= (p.Gly1379=)
c.3875G= (n.3875G=)
n.914G=
c.760G= (p.Gly254=)
n.4170G=
c.4162G= (p.Gly1388=)
c.4021G= (p.Gly1341=)
c.3097G= (p.Gly1033=)
n.4235G=
c.3994G= (p.Gly1332=)
c.3070G= (p.Gly1024=)
n.4217G=
18g.45910591C>GCA402339980EPG5n.2319G>C
c.4135G>C (p.Gly1379Arg)
c.3875G>C (n.3875G>C)
n.914G>C
c.760G>C (p.Gly254Arg)
n.4170G>C
c.4162G>C (p.Gly1388Arg)
c.4021G>C (p.Gly1341Arg)
c.3097G>C (p.Gly1033Arg)
n.4235G>C
c.3994G>C (p.Gly1332Arg)
c.3070G>C (p.Gly1024Arg)
n.4217G>C
18g.45910591C>TCA402339978EPG5n.2319G>A
c.4135G>A (p.Gly1379Arg)
c.3875G>A (n.3875G>A)
n.914G>A
c.760G>A (p.Gly254Arg)
n.4170G>A
c.4162G>A (p.Gly1388Arg)
c.4021G>A (p.Gly1341Arg)
c.3097G>A (p.Gly1033Arg)
n.4235G>A
c.3994G>A (p.Gly1332Arg)
c.3070G>A (p.Gly1024Arg)
n.4217G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.45910592T>ACA402339984EPG5n.2318A>T
c.4134A>T (p.Glu1378Asp)
c.3874A>T (n.3874A>T)
n.913A>T
c.759A>T (p.Glu253Asp)
n.4169A>T
c.4161A>T (p.Glu1387Asp)
c.4020A>T (p.Glu1340Asp)
c.3096A>T (p.Glu1032Asp)
n.4234A>T
c.3993A>T (p.Glu1331Asp)
c.3069A>T (p.Glu1023Asp)
n.4216A>T
18g.45910592T>CCA8948978EPG5n.2318A>G
c.4134A>G (p.Glu1378=)
c.3874A>G (n.3874A>G)
n.913A>G
c.759A>G (p.Glu253=)
n.4169A>G
c.4161A>G (p.Glu1387=)
c.4020A>G (p.Glu1340=)
c.3096A>G (p.Glu1032=)
n.4234A>G
c.3993A>G (p.Glu1331=)
c.3069A>G (p.Glu1023=)
n.4216A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.45910592T>GCA402339987EPG5n.2318A>C
c.4134A>C (p.Glu1378Asp)
c.3874A>C (n.3874A>C)
n.913A>C
c.759A>C (p.Glu253Asp)
n.4169A>C
c.4161A>C (p.Glu1387Asp)
c.4020A>C (p.Glu1340Asp)
c.3096A>C (p.Glu1032Asp)
n.4234A>C
c.3993A>C (p.Glu1331Asp)
c.3069A>C (p.Glu1023Asp)
n.4216A>C
18g.45910592T=CA2300590869EPG5n.2318A=
c.4134A= (p.Glu1378=)
c.3874A= (n.3874A=)
n.913A=
c.759A= (p.Glu253=)
n.4169A=
c.4161A= (p.Glu1387=)
c.4020A= (p.Glu1340=)
c.3096A= (p.Glu1032=)
n.4234A=
c.3993A= (p.Glu1331=)
c.3069A= (p.Glu1023=)
n.4216A=
18g.45910593T>ACA402339988EPG5n.2317A>T
c.4133A>T (p.Glu1378Val)
c.3873A>T (n.3873A>T)
n.912A>T
c.758A>T (p.Glu253Val)
n.4168A>T
c.4160A>T (p.Glu1387Val)
c.4019A>T (p.Glu1340Val)
c.3095A>T (p.Glu1032Val)
n.4233A>T
c.3992A>T (p.Glu1331Val)
c.3068A>T (p.Glu1023Val)
n.4215A>T
 gnomAD v4
18g.45910593T>CCA402339990EPG5n.2317A>G
c.4133A>G (p.Glu1378Gly)
c.3873A>G (n.3873A>G)
n.912A>G
c.758A>G (p.Glu253Gly)
n.4168A>G
c.4160A>G (p.Glu1387Gly)
c.4019A>G (p.Glu1340Gly)
c.3095A>G (p.Glu1032Gly)
n.4233A>G
c.3992A>G (p.Glu1331Gly)
c.3068A>G (p.Glu1023Gly)
n.4215A>G
 dbSNP gnomAD v2
18g.45910593T>GCA402339992EPG5n.2317A>C
c.4133A>C (p.Glu1378Ala)
c.3873A>C (n.3873A>C)
n.912A>C
c.758A>C (p.Glu253Ala)
n.4168A>C
c.4160A>C (p.Glu1387Ala)
c.4019A>C (p.Glu1340Ala)
c.3095A>C (p.Glu1032Ala)
n.4233A>C
c.3992A>C (p.Glu1331Ala)
c.3068A>C (p.Glu1023Ala)
n.4215A>C
18g.45910593T=CA2300590870EPG5n.2317A=
c.4133A= (p.Glu1378=)
c.3873A= (n.3873A=)
n.912A=
c.758A= (p.Glu253=)
n.4168A=
c.4160A= (p.Glu1387=)
c.4019A= (p.Glu1340=)
c.3095A= (p.Glu1032=)
n.4233A=
c.3992A= (p.Glu1331=)
c.3068A= (p.Glu1023=)
n.4215A=
18g.45910594C>ACA402339994EPG5n.2316G>T
c.4132G>T (p.Glu1378Ter)
c.3872G>T (n.3872G>T)
n.911G>T
c.757G>T (p.Glu253Ter)
n.4167G>T
c.4159G>T (p.Glu1387Ter)
c.4018G>T (p.Glu1340Ter)
c.3094G>T (p.Glu1032Ter)
n.4232G>T
c.3991G>T (p.Glu1331Ter)
c.3067G>T (p.Glu1023Ter)
n.4214G>T
 ClinVar
18g.45910594C>GCA402339997EPG5n.2316G>C
c.4132G>C (p.Glu1378Gln)
c.3872G>C (n.3872G>C)
n.911G>C
c.757G>C (p.Glu253Gln)
n.4167G>C
c.4159G>C (p.Glu1387Gln)
c.4018G>C (p.Glu1340Gln)
c.3094G>C (p.Glu1032Gln)
n.4232G>C
c.3991G>C (p.Glu1331Gln)
c.3067G>C (p.Glu1023Gln)
n.4214G>C
18g.45910594C>TCA402339999EPG5n.2316G>A
c.4132G>A (p.Glu1378Lys)
c.3872G>A (n.3872G>A)
n.911G>A
c.757G>A (p.Glu253Lys)
n.4167G>A
c.4159G>A (p.Glu1387Lys)
c.4018G>A (p.Glu1340Lys)
c.3094G>A (p.Glu1032Lys)
n.4232G>A
c.3991G>A (p.Glu1331Lys)
c.3067G>A (p.Glu1023Lys)
n.4214G>A
18g.45910595A>CCA402340001EPG5n.2315T>G
c.4131T>G (p.Ser1377Arg)
c.3871T>G (n.3871T>G)
n.910T>G
c.756T>G (p.Ser252Arg)
n.4166T>G
c.4158T>G (p.Ser1386Arg)
c.4017T>G (p.Ser1339Arg)
c.3093T>G (p.Ser1031Arg)
n.4231T>G
c.3990T>G (p.Ser1330Arg)
c.3066T>G (p.Ser1022Arg)
n.4213T>G
18g.45910595A>GCA503793703EPG5n.2315T>C
c.4131T>C (p.Ser1377=)
c.3871T>C (n.3871T>C)
n.910T>C
c.756T>C (p.Ser252=)
n.4166T>C
c.4158T>C (p.Ser1386=)
c.4017T>C (p.Ser1339=)
c.3093T>C (p.Ser1031=)
n.4231T>C
c.3990T>C (p.Ser1330=)
c.3066T>C (p.Ser1022=)
n.4213T>C
18g.45910595A>TCA402340003EPG5n.2315T>A
c.4131T>A (p.Ser1377Arg)
c.3871T>A (n.3871T>A)
n.910T>A
c.756T>A (p.Ser252Arg)
n.4166T>A
c.4158T>A (p.Ser1386Arg)
c.4017T>A (p.Ser1339Arg)
c.3093T>A (p.Ser1031Arg)
n.4231T>A
c.3990T>A (p.Ser1330Arg)
c.3066T>A (p.Ser1022Arg)
n.4213T>A
18g.45910596C>ACA402340005EPG5n.2314G>T
c.4130G>T (p.Ser1377Ile)
c.3870G>T (n.3870G>T)
n.909G>T
c.755G>T (p.Ser252Ile)
n.4165G>T
c.4157G>T (p.Ser1386Ile)
c.4016G>T (p.Ser1339Ile)
c.3092G>T (p.Ser1031Ile)
n.4230G>T
c.3989G>T (p.Ser1330Ile)
c.3065G>T (p.Ser1022Ile)
n.4212G>T
18g.45910596C=CA2300590871EPG5n.2314G=
c.4130G= (p.Ser1377=)
c.3870G= (n.3870G=)
n.909G=
c.755G= (p.Ser252=)
n.4165G=
c.4157G= (p.Ser1386=)
c.4016G= (p.Ser1339=)
c.3092G= (p.Ser1031=)
n.4230G=
c.3989G= (p.Ser1330=)
c.3065G= (p.Ser1022=)
n.4212G=
18g.45910596C>GCA402340007EPG5n.2314G>C
c.4130G>C (p.Ser1377Thr)
c.3870G>C (n.3870G>C)
n.909G>C
c.755G>C (p.Ser252Thr)
n.4165G>C
c.4157G>C (p.Ser1386Thr)
c.4016G>C (p.Ser1339Thr)
c.3092G>C (p.Ser1031Thr)
n.4230G>C
c.3989G>C (p.Ser1330Thr)
c.3065G>C (p.Ser1022Thr)
n.4212G>C
 ClinVar dbSNP
18g.45910596C>TCA402340009EPG5n.2314G>A
c.4130G>A (p.Ser1377Asn)
c.3870G>A (n.3870G>A)
n.909G>A
c.755G>A (p.Ser252Asn)
n.4165G>A
c.4157G>A (p.Ser1386Asn)
c.4016G>A (p.Ser1339Asn)
c.3092G>A (p.Ser1031Asn)
n.4230G>A
c.3989G>A (p.Ser1330Asn)
c.3065G>A (p.Ser1022Asn)
n.4212G>A
18g.45910597T>ACA8948979EPG5n.2313A>T
c.4129A>T (p.Ser1377Cys)
c.3869A>T (n.3869A>T)
n.908A>T
c.754A>T (p.Ser252Cys)
n.4164A>T
c.4156A>T (p.Ser1386Cys)
c.4015A>T (p.Ser1339Cys)
c.3091A>T (p.Ser1031Cys)
n.4229A>T
c.3988A>T (p.Ser1330Cys)
c.3064A>T (p.Ser1022Cys)
n.4211A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910597T>CCA402340013EPG5n.2313A>G
c.4129A>G (p.Ser1377Gly)
c.3869A>G (n.3869A>G)
n.908A>G
c.754A>G (p.Ser252Gly)
n.4164A>G
c.4156A>G (p.Ser1386Gly)
c.4015A>G (p.Ser1339Gly)
c.3091A>G (p.Ser1031Gly)
n.4229A>G
c.3988A>G (p.Ser1330Gly)
c.3064A>G (p.Ser1022Gly)
n.4211A>G
18g.45910597T>GCA402340011EPG5n.2313A>C
c.4129A>C (p.Ser1377Arg)
c.3869A>C (n.3869A>C)
n.908A>C
c.754A>C (p.Ser252Arg)
n.4164A>C
c.4156A>C (p.Ser1386Arg)
c.4015A>C (p.Ser1339Arg)
c.3091A>C (p.Ser1031Arg)
n.4229A>C
c.3988A>C (p.Ser1330Arg)
c.3064A>C (p.Ser1022Arg)
n.4211A>C
18g.45910597T=CA2300590872EPG5n.2313A=
c.4129A= (p.Ser1377=)
c.3869A= (n.3869A=)
n.908A=
c.754A= (p.Ser252=)
n.4164A=
c.4156A= (p.Ser1386=)
c.4015A= (p.Ser1339=)
c.3091A= (p.Ser1031=)
n.4229A=
c.3988A= (p.Ser1330=)
c.3064A= (p.Ser1022=)
n.4211A=
18g.45910598G>ACA299760394EPG5n.2312C>T
c.4128C>T (p.Gly1376=)
c.3868C>T (n.3868C>T)
n.907C>T
c.753C>T (p.Gly251=)
n.4163C>T
c.4155C>T (p.Gly1385=)
c.4014C>T (p.Gly1338=)
c.3090C>T (p.Gly1030=)
n.4228C>T
c.3987C>T (p.Gly1329=)
c.3063C>T (p.Gly1021=)
n.4210C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.45910598G>CCA503793704EPG5n.2312C>G
c.4128C>G (p.Gly1376=)
c.3868C>G (n.3868C>G)
n.907C>G
c.753C>G (p.Gly251=)
n.4163C>G
c.4155C>G (p.Gly1385=)
c.4014C>G (p.Gly1338=)
c.3090C>G (p.Gly1030=)
n.4228C>G
c.3987C>G (p.Gly1329=)
c.3063C>G (p.Gly1021=)
n.4210C>G
18g.45910598G=CA2300590873EPG5n.2312C=
c.4128C= (p.Gly1376=)
c.3868C= (n.3868C=)
n.907C=
c.753C= (p.Gly251=)
n.4163C=
c.4155C= (p.Gly1385=)
c.4014C= (p.Gly1338=)
c.3090C= (p.Gly1030=)
n.4228C=
c.3987C= (p.Gly1329=)
c.3063C= (p.Gly1021=)
n.4210C=
18g.45910598G>TCA503793706EPG5n.2312C>A
c.4128C>A (p.Gly1376=)
c.3868C>A (n.3868C>A)
n.907C>A
c.753C>A (p.Gly251=)
n.4163C>A
c.4155C>A (p.Gly1385=)
c.4014C>A (p.Gly1338=)
c.3090C>A (p.Gly1030=)
n.4228C>A
c.3987C>A (p.Gly1329=)
c.3063C>A (p.Gly1021=)
n.4210C>A
18g.45910599C>ACA402340016EPG5n.2311G>T
c.4127G>T (p.Gly1376Val)
c.3867G>T (n.3867G>T)
n.906G>T
c.752G>T (p.Gly251Val)
n.4162G>T
c.4154G>T (p.Gly1385Val)
c.4013G>T (p.Gly1338Val)
c.3089G>T (p.Gly1030Val)
n.4227G>T
c.3986G>T (p.Gly1329Val)
c.3062G>T (p.Gly1021Val)
n.4209G>T
 gnomAD v4
18g.45910599C>GCA402340017EPG5n.2311G>C
c.4127G>C (p.Gly1376Ala)
c.3867G>C (n.3867G>C)
n.906G>C
c.752G>C (p.Gly251Ala)
n.4162G>C
c.4154G>C (p.Gly1385Ala)
c.4013G>C (p.Gly1338Ala)
c.3089G>C (p.Gly1030Ala)
n.4227G>C
c.3986G>C (p.Gly1329Ala)
c.3062G>C (p.Gly1021Ala)
n.4209G>C
18g.45910599C>TCA402340018EPG5n.2311G>A
c.4127G>A (p.Gly1376Asp)
c.3867G>A (n.3867G>A)
n.906G>A
c.752G>A (p.Gly251Asp)
n.4162G>A
c.4154G>A (p.Gly1385Asp)
c.4013G>A (p.Gly1338Asp)
c.3089G>A (p.Gly1030Asp)
n.4227G>A
c.3986G>A (p.Gly1329Asp)
c.3062G>A (p.Gly1021Asp)
n.4209G>A
18g.45910600C>ACA402340019EPG5n.2310G>T
c.4126G>T (p.Gly1376Cys)
c.3866G>T (n.3866G>T)
n.905G>T
c.751G>T (p.Gly251Cys)
n.4161G>T
c.4153G>T (p.Gly1385Cys)
c.4012G>T (p.Gly1338Cys)
c.3088G>T (p.Gly1030Cys)
n.4226G>T
c.3985G>T (p.Gly1329Cys)
c.3061G>T (p.Gly1021Cys)
n.4208G>T
18g.45910600C>GCA402340020EPG5n.2310G>C
c.4126G>C (p.Gly1376Arg)
c.3866G>C (n.3866G>C)
n.905G>C
c.751G>C (p.Gly251Arg)
n.4161G>C
c.4153G>C (p.Gly1385Arg)
c.4012G>C (p.Gly1338Arg)
c.3088G>C (p.Gly1030Arg)
n.4226G>C
c.3985G>C (p.Gly1329Arg)
c.3061G>C (p.Gly1021Arg)
n.4208G>C
18g.45910600C>TCA402340021EPG5n.2310G>A
c.4126G>A (p.Gly1376Ser)
c.3866G>A (n.3866G>A)
n.905G>A
c.751G>A (p.Gly251Ser)
n.4161G>A
c.4153G>A (p.Gly1385Ser)
c.4012G>A (p.Gly1338Ser)
c.3088G>A (p.Gly1030Ser)
n.4226G>A
c.3985G>A (p.Gly1329Ser)
c.3061G>A (p.Gly1021Ser)
n.4208G>A
18g.45910601C>ACA402340022EPG5n.2309G>T
c.4125G>T (p.Glu1375Asp)
c.3865G>T (n.3865G>T)
n.904G>T
c.750G>T (p.Glu250Asp)
n.4160G>T
c.4152G>T (p.Glu1384Asp)
c.4011G>T (p.Glu1337Asp)
c.3087G>T (p.Glu1029Asp)
n.4225G>T
c.3984G>T (p.Glu1328Asp)
c.3060G>T (p.Glu1020Asp)
n.4207G>T
18g.45910601C>GCA402340023EPG5n.2309G>C
c.4125G>C (p.Glu1375Asp)
c.3865G>C (n.3865G>C)
n.904G>C
c.750G>C (p.Glu250Asp)
n.4160G>C
c.4152G>C (p.Glu1384Asp)
c.4011G>C (p.Glu1337Asp)
c.3087G>C (p.Glu1029Asp)
n.4225G>C
c.3984G>C (p.Glu1328Asp)
c.3060G>C (p.Glu1020Asp)
n.4207G>C
18g.45910601C>TCA503793707EPG5n.2309G>A
c.4125G>A (p.Glu1375=)
c.3865G>A (n.3865G>A)
n.904G>A
c.750G>A (p.Glu250=)
n.4160G>A
c.4152G>A (p.Glu1384=)
c.4011G>A (p.Glu1337=)
c.3087G>A (p.Glu1029=)
n.4225G>A
c.3984G>A (p.Glu1328=)
c.3060G>A (p.Glu1020=)
n.4207G>A
 ClinVar gnomAD v4
18g.45910602T>ACA402340024EPG5n.2308A>T
c.4124A>T (p.Glu1375Val)
c.3864A>T (n.3864A>T)
n.903A>T
c.749A>T (p.Glu250Val)
n.4159A>T
c.4151A>T (p.Glu1384Val)
c.4010A>T (p.Glu1337Val)
c.3086A>T (p.Glu1029Val)
n.4224A>T
c.3983A>T (p.Glu1328Val)
c.3059A>T (p.Glu1020Val)
n.4206A>T
18g.45910602T>CCA402340025EPG5n.2308A>G
c.4124A>G (p.Glu1375Gly)
c.3864A>G (n.3864A>G)
n.903A>G
c.749A>G (p.Glu250Gly)
n.4159A>G
c.4151A>G (p.Glu1384Gly)
c.4010A>G (p.Glu1337Gly)
c.3086A>G (p.Glu1029Gly)
n.4224A>G
c.3983A>G (p.Glu1328Gly)
c.3059A>G (p.Glu1020Gly)
n.4206A>G
18g.45910602T>GCA402340026EPG5n.2308A>C
c.4124A>C (p.Glu1375Ala)
c.3864A>C (n.3864A>C)
n.903A>C
c.749A>C (p.Glu250Ala)
n.4159A>C
c.4151A>C (p.Glu1384Ala)
c.4010A>C (p.Glu1337Ala)
c.3086A>C (p.Glu1029Ala)
n.4224A>C
c.3983A>C (p.Glu1328Ala)
c.3059A>C (p.Glu1020Ala)
n.4206A>C
18g.45910603C>ACA402340027EPG5n.2307G>T
c.4123G>T (p.Glu1375Ter)
c.3863G>T (n.3863G>T)
n.902G>T
c.748G>T (p.Glu250Ter)
n.4158G>T
c.4150G>T (p.Glu1384Ter)
c.4009G>T (p.Glu1337Ter)
c.3085G>T (p.Glu1029Ter)
n.4223G>T
c.3982G>T (p.Glu1328Ter)
c.3058G>T (p.Glu1020Ter)
n.4205G>T
18g.45910603C>GCA402340028EPG5n.2307G>C
c.4123G>C (p.Glu1375Gln)
c.3863G>C (n.3863G>C)
n.902G>C
c.748G>C (p.Glu250Gln)
n.4158G>C
c.4150G>C (p.Glu1384Gln)
c.4009G>C (p.Glu1337Gln)
c.3085G>C (p.Glu1029Gln)
n.4223G>C
c.3982G>C (p.Glu1328Gln)
c.3058G>C (p.Glu1020Gln)
n.4205G>C
18g.45910603C>TCA402340029EPG5n.2307G>A
c.4123G>A (p.Glu1375Lys)
c.3863G>A (n.3863G>A)
n.902G>A
c.748G>A (p.Glu250Lys)
n.4158G>A
c.4150G>A (p.Glu1384Lys)
c.4009G>A (p.Glu1337Lys)
c.3085G>A (p.Glu1029Lys)
n.4223G>A
c.3982G>A (p.Glu1328Lys)
c.3058G>A (p.Glu1020Lys)
n.4205G>A
18g.45910604T>ACA503793711EPG5n.2306A>T
c.4122A>T (p.Ala1374=)
c.3862A>T (n.3862A>T)
n.901A>T
c.747A>T (p.Ala249=)
n.4157A>T
c.4149A>T (p.Ala1383=)
c.4008A>T (p.Ala1336=)
c.3084A>T (p.Ala1028=)
n.4222A>T
c.3981A>T (p.Ala1327=)
c.3057A>T (p.Ala1019=)
n.4204A>T
 gnomAD v4
18g.45910604T>CCA503793712EPG5n.2306A>G
c.4122A>G (p.Ala1374=)
c.3862A>G (n.3862A>G)
n.901A>G
c.747A>G (p.Ala249=)
n.4157A>G
c.4149A>G (p.Ala1383=)
c.4008A>G (p.Ala1336=)
c.3084A>G (p.Ala1028=)
n.4222A>G
c.3981A>G (p.Ala1327=)
c.3057A>G (p.Ala1019=)
n.4204A>G
18g.45910604T>GCA503793713EPG5n.2306A>C
c.4122A>C (p.Ala1374=)
c.3862A>C (n.3862A>C)
n.901A>C
c.747A>C (p.Ala249=)
n.4157A>C
c.4149A>C (p.Ala1383=)
c.4008A>C (p.Ala1336=)
c.3084A>C (p.Ala1028=)
n.4222A>C
c.3981A>C (p.Ala1327=)
c.3057A>C (p.Ala1019=)
n.4204A>C
18g.45910605G>ACA402340031EPG5n.2305C>T
c.4121C>T (p.Ala1374Val)
c.3861C>T (n.3861C>T)
n.900C>T
c.746C>T (p.Ala249Val)
n.4156C>T
c.4148C>T (p.Ala1383Val)
c.4007C>T (p.Ala1336Val)
c.3083C>T (p.Ala1028Val)
n.4221C>T
c.3980C>T (p.Ala1327Val)
c.3056C>T (p.Ala1019Val)
n.4203C>T
18g.45910605G>CCA402340032EPG5n.2305C>G
c.4121C>G (p.Ala1374Gly)
c.3861C>G (n.3861C>G)
n.900C>G
c.746C>G (p.Ala249Gly)
n.4156C>G
c.4148C>G (p.Ala1383Gly)
c.4007C>G (p.Ala1336Gly)
c.3083C>G (p.Ala1028Gly)
n.4221C>G
c.3980C>G (p.Ala1327Gly)
c.3056C>G (p.Ala1019Gly)
n.4203C>G
18g.45910605G>TCA402340030EPG5n.2305C>A
c.4121C>A (p.Ala1374Glu)
c.3861C>A (n.3861C>A)
n.900C>A
c.746C>A (p.Ala249Glu)
n.4156C>A
c.4148C>A (p.Ala1383Glu)
c.4007C>A (p.Ala1336Glu)
c.3083C>A (p.Ala1028Glu)
n.4221C>A
c.3980C>A (p.Ala1327Glu)
c.3056C>A (p.Ala1019Glu)
n.4203C>A
18g.45910606C>ACA402340033EPG5n.2304G>T
c.4120G>T (p.Ala1374Ser)
c.3860G>T (n.3860G>T)
n.899G>T
c.745G>T (p.Ala249Ser)
n.4155G>T
c.4147G>T (p.Ala1383Ser)
c.4006G>T (p.Ala1336Ser)
c.3082G>T (p.Ala1028Ser)
n.4220G>T
c.3979G>T (p.Ala1327Ser)
c.3055G>T (p.Ala1019Ser)
n.4202G>T
18g.45910606C>GCA402340034EPG5n.2304G>C
c.4120G>C (p.Ala1374Pro)
c.3860G>C (n.3860G>C)
n.899G>C
c.745G>C (p.Ala249Pro)
n.4155G>C
c.4147G>C (p.Ala1383Pro)
c.4006G>C (p.Ala1336Pro)
c.3082G>C (p.Ala1028Pro)
n.4220G>C
c.3979G>C (p.Ala1327Pro)
c.3055G>C (p.Ala1019Pro)
n.4202G>C
18g.45910606C>TCA402340035EPG5n.2304G>A
c.4120G>A (p.Ala1374Thr)
c.3860G>A (n.3860G>A)
n.899G>A
c.745G>A (p.Ala249Thr)
n.4155G>A
c.4147G>A (p.Ala1383Thr)
c.4006G>A (p.Ala1336Thr)
c.3082G>A (p.Ala1028Thr)
n.4220G>A
c.3979G>A (p.Ala1327Thr)
c.3055G>A (p.Ala1019Thr)
n.4202G>A
18g.45910607T>ACA503793717EPG5n.2303A>T
c.4119A>T (p.Pro1373=)
c.3859A>T (n.3859A>T)
n.898A>T
c.744A>T (p.Pro248=)
n.4154A>T
c.4146A>T (p.Pro1382=)
c.4005A>T (p.Pro1335=)
c.3081A>T (p.Pro1027=)
n.4219A>T
c.3978A>T (p.Pro1326=)
c.3054A>T (p.Pro1018=)
n.4201A>T
18g.45910607T>CCA503793720EPG5n.2303A>G
c.4119A>G (p.Pro1373=)
c.3859A>G (n.3859A>G)
n.898A>G
c.744A>G (p.Pro248=)
n.4154A>G
c.4146A>G (p.Pro1382=)
c.4005A>G (p.Pro1335=)
c.3081A>G (p.Pro1027=)
n.4219A>G
c.3978A>G (p.Pro1326=)
c.3054A>G (p.Pro1018=)
n.4201A>G
 dbSNP
18g.45910607T>GCA503793718EPG5n.2303A>C
c.4119A>C (p.Pro1373=)
c.3859A>C (n.3859A>C)
n.898A>C
c.744A>C (p.Pro248=)
n.4154A>C
c.4146A>C (p.Pro1382=)
c.4005A>C (p.Pro1335=)
c.3081A>C (p.Pro1027=)
n.4219A>C
c.3978A>C (p.Pro1326=)
c.3054A>C (p.Pro1018=)
n.4201A>C
18g.45910607T=CA2300590874EPG5n.2303A=
c.4119A= (p.Pro1373=)
c.3859A= (n.3859A=)
n.898A=
c.744A= (p.Pro248=)
n.4154A=
c.4146A= (p.Pro1382=)
c.4005A= (p.Pro1335=)
c.3081A= (p.Pro1027=)
n.4219A=
c.3978A= (p.Pro1326=)
c.3054A= (p.Pro1018=)
n.4201A=
18g.45910608G>ACA402340036EPG5n.2302C>T
c.4118C>T (p.Pro1373Leu)
c.3858C>T (n.3858C>T)
n.897C>T
c.743C>T (p.Pro248Leu)
n.4153C>T
c.4145C>T (p.Pro1382Leu)
c.4004C>T (p.Pro1335Leu)
c.3080C>T (p.Pro1027Leu)
n.4218C>T
c.3977C>T (p.Pro1326Leu)
c.3053C>T (p.Pro1018Leu)
n.4200C>T
 gnomAD v4
18g.45910608G>CCA402340037EPG5n.2302C>G
c.4118C>G (p.Pro1373Arg)
c.3858C>G (n.3858C>G)
n.897C>G
c.743C>G (p.Pro248Arg)
n.4153C>G
c.4145C>G (p.Pro1382Arg)
c.4004C>G (p.Pro1335Arg)
c.3080C>G (p.Pro1027Arg)
n.4218C>G
c.3977C>G (p.Pro1326Arg)
c.3053C>G (p.Pro1018Arg)
n.4200C>G
18g.45910608G>TCA402340038EPG5n.2302C>A
c.4118C>A (p.Pro1373Gln)
c.3858C>A (n.3858C>A)
n.897C>A
c.743C>A (p.Pro248Gln)
n.4153C>A
c.4145C>A (p.Pro1382Gln)
c.4004C>A (p.Pro1335Gln)
c.3080C>A (p.Pro1027Gln)
n.4218C>A
c.3977C>A (p.Pro1326Gln)
c.3053C>A (p.Pro1018Gln)
n.4200C>A
18g.45910609G>ACA402340039EPG5n.2301C>T
c.4117C>T (p.Pro1373Ser)
c.3857C>T (n.3857C>T)
n.896C>T
c.742C>T (p.Pro248Ser)
n.4152C>T
c.4144C>T (p.Pro1382Ser)
c.4003C>T (p.Pro1335Ser)
c.3079C>T (p.Pro1027Ser)
n.4217C>T
c.3976C>T (p.Pro1326Ser)
c.3052C>T (p.Pro1018Ser)
n.4199C>T
18g.45910609G>CCA402340040EPG5n.2301C>G
c.4117C>G (p.Pro1373Ala)
c.3857C>G (n.3857C>G)
n.896C>G
c.742C>G (p.Pro248Ala)
n.4152C>G
c.4144C>G (p.Pro1382Ala)
c.4003C>G (p.Pro1335Ala)
c.3079C>G (p.Pro1027Ala)
n.4217C>G
c.3976C>G (p.Pro1326Ala)
c.3052C>G (p.Pro1018Ala)
n.4199C>G
18g.45910609G>TCA402340041EPG5n.2301C>A
c.4117C>A (p.Pro1373Thr)
c.3857C>A (n.3857C>A)
n.896C>A
c.742C>A (p.Pro248Thr)
n.4152C>A
c.4144C>A (p.Pro1382Thr)
c.4003C>A (p.Pro1335Thr)
c.3079C>A (p.Pro1027Thr)
n.4217C>A
c.3976C>A (p.Pro1326Thr)
c.3052C>A (p.Pro1018Thr)
n.4199C>A
 gnomAD v4
18g.45910610A>CCA503793723EPG5n.2300T>G
c.4116T>G (p.Val1372=)
c.3856T>G (n.3856T>G)
n.895T>G
c.741T>G (p.Val247=)
n.4151T>G
c.4143T>G (p.Val1381=)
c.4002T>G (p.Val1334=)
c.3078T>G (p.Val1026=)
n.4216T>G
c.3975T>G (p.Val1325=)
c.3051T>G (p.Val1017=)
n.4198T>G
18g.45910610A>GCA503793724EPG5n.2300T>C
c.4116T>C (p.Val1372=)
c.3856T>C (n.3856T>C)
n.895T>C
c.741T>C (p.Val247=)
n.4151T>C
c.4143T>C (p.Val1381=)
c.4002T>C (p.Val1334=)
c.3078T>C (p.Val1026=)
n.4216T>C
c.3975T>C (p.Val1325=)
c.3051T>C (p.Val1017=)
n.4198T>C
18g.45910610A>TCA503793725EPG5n.2300T>A
c.4116T>A (p.Val1372=)
c.3856T>A (n.3856T>A)
n.895T>A
c.741T>A (p.Val247=)
n.4151T>A
c.4143T>A (p.Val1381=)
c.4002T>A (p.Val1334=)
c.3078T>A (p.Val1026=)
n.4216T>A
c.3975T>A (p.Val1325=)
c.3051T>A (p.Val1017=)
n.4198T>A
18g.45910611A>CCA402340042EPG5n.2299T>G
c.4115T>G (p.Val1372Gly)
c.3855T>G (n.3855T>G)
n.894T>G
c.740T>G (p.Val247Gly)
n.4150T>G
c.4142T>G (p.Val1381Gly)
c.4001T>G (p.Val1334Gly)
c.3077T>G (p.Val1026Gly)
n.4215T>G
c.3974T>G (p.Val1325Gly)
c.3050T>G (p.Val1017Gly)
n.4197T>G
18g.45910611A>GCA402340043EPG5n.2299T>C
c.4115T>C (p.Val1372Ala)
c.3855T>C (n.3855T>C)
n.894T>C
c.740T>C (p.Val247Ala)
n.4150T>C
c.4142T>C (p.Val1381Ala)
c.4001T>C (p.Val1334Ala)
c.3077T>C (p.Val1026Ala)
n.4215T>C
c.3974T>C (p.Val1325Ala)
c.3050T>C (p.Val1017Ala)
n.4197T>C
18g.45910611A>TCA402340044EPG5n.2299T>A
c.4115T>A (p.Val1372Asp)
c.3855T>A (n.3855T>A)
n.894T>A
c.740T>A (p.Val247Asp)
n.4150T>A
c.4142T>A (p.Val1381Asp)
c.4001T>A (p.Val1334Asp)
c.3077T>A (p.Val1026Asp)
n.4215T>A
c.3974T>A (p.Val1325Asp)
c.3050T>A (p.Val1017Asp)
n.4197T>A
 gnomAD v4
18g.45910612_45910617delCA2812342750EPG5n.2294_2299del
c.4110_4115del (p.Arg1371_Val1372del)
c.3850_3855del (n.3850_3855del)
n.889_894del
c.735_740del (p.Arg246_Val247del)
n.4145_4150del
c.4137_4142del (p.Arg1380_Val1381del)
c.3996_4001del (p.Arg1333_Val1334del)
c.3072_3077del (p.Arg1025_Val1026del)
n.4210_4215del
c.3969_3974del (p.Arg1324_Val1325del)
c.3045_3050del (p.Arg1016_Val1017del)
n.4192_4197del
18g.45910612C>ACA402340047EPG5n.2298G>T
c.4114G>T (p.Val1372Phe)
c.3854G>T (n.3854G>T)
n.893G>T
c.739G>T (p.Val247Phe)
n.4149G>T
c.4141G>T (p.Val1381Phe)
c.4000G>T (p.Val1334Phe)
c.3076G>T (p.Val1026Phe)
n.4214G>T
c.3973G>T (p.Val1325Phe)
c.3049G>T (p.Val1017Phe)
n.4196G>T
18g.45910612C>GCA402340046EPG5n.2298G>C
c.4114G>C (p.Val1372Leu)
c.3854G>C (n.3854G>C)
n.893G>C
c.739G>C (p.Val247Leu)
n.4149G>C
c.4141G>C (p.Val1381Leu)
c.4000G>C (p.Val1334Leu)
c.3076G>C (p.Val1026Leu)
n.4214G>C
c.3973G>C (p.Val1325Leu)
c.3049G>C (p.Val1017Leu)
n.4196G>C
18g.45910612C>TCA402340045EPG5n.2298G>A
c.4114G>A (p.Val1372Ile)
c.3854G>A (n.3854G>A)
n.893G>A
c.739G>A (p.Val247Ile)
n.4149G>A
c.4141G>A (p.Val1381Ile)
c.4000G>A (p.Val1334Ile)
c.3076G>A (p.Val1026Ile)
n.4214G>A
c.3973G>A (p.Val1325Ile)
c.3049G>A (p.Val1017Ile)
n.4196G>A
18g.45910613A>CCA503793728EPG5n.2297T>G
c.4113T>G (p.Arg1371=)
c.3853T>G (n.3853T>G)
n.892T>G
c.738T>G (p.Arg246=)
n.4148T>G
c.4140T>G (p.Arg1380=)
c.3999T>G (p.Arg1333=)
c.3075T>G (p.Arg1025=)
n.4213T>G
c.3972T>G (p.Arg1324=)
c.3048T>G (p.Arg1016=)
n.4195T>G
18g.45910613A>GCA503793730EPG5n.2297T>C
c.4113T>C (p.Arg1371=)
c.3853T>C (n.3853T>C)
n.892T>C
c.738T>C (p.Arg246=)
n.4148T>C
c.4140T>C (p.Arg1380=)
c.3999T>C (p.Arg1333=)
c.3075T>C (p.Arg1025=)
n.4213T>C
c.3972T>C (p.Arg1324=)
c.3048T>C (p.Arg1016=)
n.4195T>C
18g.45910613A>TCA503793731EPG5n.2297T>A
c.4113T>A (p.Arg1371=)
c.3853T>A (n.3853T>A)
n.892T>A
c.738T>A (p.Arg246=)
n.4148T>A
c.4140T>A (p.Arg1380=)
c.3999T>A (p.Arg1333=)
c.3075T>A (p.Arg1025=)
n.4213T>A
c.3972T>A (p.Arg1324=)
c.3048T>A (p.Arg1016=)
n.4195T>A
18g.45910614C>ACA402340048EPG5n.2296G>T
c.4112G>T (p.Arg1371Leu)
c.3852G>T (n.3852G>T)
n.891G>T
c.737G>T (p.Arg246Leu)
n.4147G>T
c.4139G>T (p.Arg1380Leu)
c.3998G>T (p.Arg1333Leu)
c.3074G>T (p.Arg1025Leu)
n.4212G>T
c.3971G>T (p.Arg1324Leu)
c.3047G>T (p.Arg1016Leu)
n.4194G>T
18g.45910614C=CA2300590875EPG5n.2296G=
c.4112G= (p.Arg1371=)
c.3852G= (n.3852G=)
n.891G=
c.737G= (p.Arg246=)
n.4147G=
c.4139G= (p.Arg1380=)
c.3998G= (p.Arg1333=)
c.3074G= (p.Arg1025=)
n.4212G=
c.3971G= (p.Arg1324=)
c.3047G= (p.Arg1016=)
n.4194G=
18g.45910614C>GCA8948980EPG5n.2296G>C
c.4112G>C (p.Arg1371Pro)
c.3852G>C (n.3852G>C)
n.891G>C
c.737G>C (p.Arg246Pro)
n.4147G>C
c.4139G>C (p.Arg1380Pro)
c.3998G>C (p.Arg1333Pro)
c.3074G>C (p.Arg1025Pro)
n.4212G>C
c.3971G>C (p.Arg1324Pro)
c.3047G>C (p.Arg1016Pro)
n.4194G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.45910614C>TCA402340049EPG5n.2296G>A
c.4112G>A (p.Arg1371His)
c.3852G>A (n.3852G>A)
n.891G>A
c.737G>A (p.Arg246His)
n.4147G>A
c.4139G>A (p.Arg1380His)
c.3998G>A (p.Arg1333His)
c.3074G>A (p.Arg1025His)
n.4212G>A
c.3971G>A (p.Arg1324His)
c.3047G>A (p.Arg1016His)
n.4194G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.45910615G>ACA8948981EPG5n.2295C>T
c.4111C>T (p.Arg1371Cys)
c.3851C>T (n.3851C>T)
n.890C>T
c.736C>T (p.Arg246Cys)
n.4146C>T
c.4138C>T (p.Arg1380Cys)
c.3997C>T (p.Arg1333Cys)
c.3073C>T (p.Arg1025Cys)
n.4211C>T
c.3970C>T (p.Arg1324Cys)
c.3046C>T (p.Arg1016Cys)
n.4193C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.45910615G>CCA402340050EPG5n.2295C>G
c.4111C>G (p.Arg1371Gly)
c.3851C>G (n.3851C>G)
n.890C>G
c.736C>G (p.Arg246Gly)
n.4146C>G
c.4138C>G (p.Arg1380Gly)
c.3997C>G (p.Arg1333Gly)
c.3073C>G (p.Arg1025Gly)
n.4211C>G
c.3970C>G (p.Arg1324Gly)
c.3046C>G (p.Arg1016Gly)
n.4193C>G
18g.45910615G=CA2300590876EPG5n.2295C=
c.4111C= (p.Arg1371=)
c.3851C= (n.3851C=)
n.890C=
c.736C= (p.Arg246=)
n.4146C=
c.4138C= (p.Arg1380=)
c.3997C= (p.Arg1333=)
c.3073C= (p.Arg1025=)
n.4211C=
c.3970C= (p.Arg1324=)
c.3046C= (p.Arg1016=)
n.4193C=
18g.45910615G>TCA402340051EPG5n.2295C>A
c.4111C>A (p.Arg1371Ser)
c.3851C>A (n.3851C>A)
n.890C>A
c.736C>A (p.Arg246Ser)
n.4146C>A
c.4138C>A (p.Arg1380Ser)
c.3997C>A (p.Arg1333Ser)
c.3073C>A (p.Arg1025Ser)
n.4211C>A
c.3970C>A (p.Arg1324Ser)
c.3046C>A (p.Arg1016Ser)
n.4193C>A
18g.45910615_45910616delCA2641629262EPG5n.2294_2295del
c.4110_4111del (p.Arg1371CysfsTer7)
c.3850_3851del (n.3850_3851del)
n.889_890del
c.735_736del (p.Arg246CysfsTer7)
n.4145_4146del
c.4137_4138del (p.Arg1380CysfsTer7)
c.3996_3997del (p.Arg1333CysfsTer7)
c.3072_3073del (p.Arg1025CysfsTer7)
n.4210_4211del
c.3969_3970del (p.Arg1324CysfsTer7)
c.3045_3046del (p.Arg1016CysfsTer7)
n.4192_4193del
 gnomAD v4
18g.45910616G>ACA503793737EPG5n.2294C>T
c.4110C>T (p.Leu1370=)
c.3850C>T (n.3850C>T)
n.889C>T
c.735C>T (p.Leu245=)
n.4145C>T
c.4137C>T (p.Leu1379=)
c.3996C>T (p.Leu1332=)
c.3072C>T (p.Leu1024=)
n.4210C>T
c.3969C>T (p.Leu1323=)
c.3045C>T (p.Leu1015=)
n.4192C>T
18g.45910616G>CCA503793735EPG5n.2294C>G
c.4110C>G (p.Leu1370=)
c.3850C>G (n.3850C>G)
n.889C>G
c.735C>G (p.Leu245=)
n.4145C>G
c.4137C>G (p.Leu1379=)
c.3996C>G (p.Leu1332=)
c.3072C>G (p.Leu1024=)
n.4210C>G
c.3969C>G (p.Leu1323=)
c.3045C>G (p.Leu1015=)
n.4192C>G
18g.45910616G>TCA503793736EPG5n.2294C>A
c.4110C>A (p.Leu1370=)
c.3850C>A (n.3850C>A)
n.889C>A
c.735C>A (p.Leu245=)
n.4145C>A
c.4137C>A (p.Leu1379=)
c.3996C>A (p.Leu1332=)
c.3072C>A (p.Leu1024=)
n.4210C>A
c.3969C>A (p.Leu1323=)
c.3045C>A (p.Leu1015=)
n.4192C>A
18g.45910617A=CA2300590878EPG5n.2293T=
c.4109T= (p.Leu1370=)
c.3849T= (n.3849T=)
n.888T=
c.734T= (p.Leu245=)
n.4144T=
c.4136T= (p.Leu1379=)
c.3995T= (p.Leu1332=)
c.3071T= (p.Leu1024=)
n.4209T=
c.3968T= (p.Leu1323=)
c.3044T= (p.Leu1015=)
n.4191T=
18g.45910617A>CCA8948982EPG5n.2293T>G
c.4109T>G (p.Leu1370Arg)
c.3849T>G (n.3849T>G)
n.888T>G
c.734T>G (p.Leu245Arg)
n.4144T>G
c.4136T>G (p.Leu1379Arg)
c.3995T>G (p.Leu1332Arg)
c.3071T>G (p.Leu1024Arg)
n.4209T>G
c.3968T>G (p.Leu1323Arg)
c.3044T>G (p.Leu1015Arg)
n.4191T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.45910617A>GCA402340052EPG5n.2293T>C
c.4109T>C (p.Leu1370Pro)
c.3849T>C (n.3849T>C)
n.888T>C
c.734T>C (p.Leu245Pro)
n.4144T>C
c.4136T>C (p.Leu1379Pro)
c.3995T>C (p.Leu1332Pro)
c.3071T>C (p.Leu1024Pro)
n.4209T>C
c.3968T>C (p.Leu1323Pro)
c.3044T>C (p.Leu1015Pro)
n.4191T>C
18g.45910617A>TCA402340053EPG5n.2293T>A
c.4109T>A (p.Leu1370His)
c.3849T>A (n.3849T>A)
n.888T>A
c.734T>A (p.Leu245His)
n.4144T>A
c.4136T>A (p.Leu1379His)
c.3995T>A (p.Leu1332His)
c.3071T>A (p.Leu1024His)
n.4209T>A
c.3968T>A (p.Leu1323His)
c.3044T>A (p.Leu1015His)
n.4191T>A
18g.45910617_45910618delinsAGCA2300590877EPG5n.2292_2293delinsCT
c.4108_4109delinsCT (p.Leu1370=)
c.3848_3849delinsCT (n.3848_3849delinsCT)
n.887_888delinsCT
c.733_734delinsCT (p.Leu245=)
n.4143_4144delinsCT
c.4135_4136delinsCT (p.Leu1379=)
c.3994_3995delinsCT (p.Leu1332=)
c.3070_3071delinsCT (p.Leu1024=)
n.4208_4209delinsCT
c.3967_3968delinsCT (p.Leu1323=)
c.3043_3044delinsCT (p.Leu1015=)
n.4190_4191delinsCT
18g.45910618G>ACA402340054EPG5n.2292C>T
c.4108C>T (p.Leu1370Phe)
c.3848C>T (n.3848C>T)
n.887C>T
c.733C>T (p.Leu245Phe)
n.4143C>T
c.4135C>T (p.Leu1379Phe)
c.3994C>T (p.Leu1332Phe)
c.3070C>T (p.Leu1024Phe)
n.4208C>T
c.3967C>T (p.Leu1323Phe)
c.3043C>T (p.Leu1015Phe)
n.4190C>T
 ClinVar dbSNP
18g.45910618G>CCA402340055EPG5n.2292C>G
c.4108C>G (p.Leu1370Val)
c.3848C>G (n.3848C>G)
n.887C>G
c.733C>G (p.Leu245Val)
n.4143C>G
c.4135C>G (p.Leu1379Val)
c.3994C>G (p.Leu1332Val)
c.3070C>G (p.Leu1024Val)
n.4208C>G
c.3967C>G (p.Leu1323Val)
c.3043C>G (p.Leu1015Val)
n.4190C>G
18g.45910618G=CA2300590879EPG5n.2292C=
c.4108C= (p.Leu1370=)
c.3848C= (n.3848C=)
n.887C=
c.733C= (p.Leu245=)
n.4143C=
c.4135C= (p.Leu1379=)
c.3994C= (p.Leu1332=)
c.3070C= (p.Leu1024=)
n.4208C=
c.3967C= (p.Leu1323=)
c.3043C= (p.Leu1015=)
n.4190C=
18g.45910618G>TCA402340056EPG5n.2292C>A
c.4108C>A (p.Leu1370Ile)
c.3848C>A (n.3848C>A)
n.887C>A
c.733C>A (p.Leu245Ile)
n.4143C>A
c.4135C>A (p.Leu1379Ile)
c.3994C>A (p.Leu1332Ile)
c.3070C>A (p.Leu1024Ile)
n.4208C>A
c.3967C>A (p.Leu1323Ile)
c.3043C>A (p.Leu1015Ile)
n.4190C>A
18g.45910620delCA645373362EPG5n.2292del
c.4108del (p.Leu1370SerfsTer22)
c.3848del (n.3848del)
n.887del
c.733del (p.Leu245SerfsTer22)
n.4143del
c.4135del (p.Leu1379SerfsTer22)
c.3994del (p.Leu1332SerfsTer22)
c.3070del (p.Leu1024SerfsTer22)
n.4208del
c.3967del (p.Leu1323SerfsTer22)
c.3043del (p.Leu1015SerfsTer22)
n.4190del
 dbSNP
18g.[45910620del;45967239T>C]CA645373134EPG5c.[1A>G;4108del] (p.[Met1Val;Leu1370SerfsTer22])
c.[1A>G;3848del] ([p.Met1Val;n.3848del])
n.[36A>G;4143del]
c.[1A>G;4135del] (p.[Met1Val;Leu1379SerfsTer22])
c.[1A>G;3994del] (p.[Met1Val;Leu1332SerfsTer22])
n.[101A>G;4208del]
c.[1A>G;3967del] (p.[Met1Val;Leu1323SerfsTer22])
n.[83A>G;4190del]
18g.45910619G>ACA503793740EPG5n.2291C>T
c.4107C>T (p.Ala1369=)
c.3847C>T (n.3847C>T)
n.886C>T
c.732C>T (p.Ala244=)
n.4142C>T
c.4134C>T (p.Ala1378=)
c.3993C>T (p.Ala1331=)
c.3069C>T (p.Ala1023=)
n.4207C>T
c.3966C>T (p.Ala1322=)
c.3042C>T (p.Ala1014=)
n.4189C>T
 dbSNP gnomAD v4
18g.45910619G>CCA503793741EPG5n.2291C>G
c.4107C>G (p.Ala1369=)
c.3847C>G (n.3847C>G)
n.886C>G
c.732C>G (p.Ala244=)
n.4142C>G
c.4134C>G (p.Ala1378=)
c.3993C>G (p.Ala1331=)
c.3069C>G (p.Ala1023=)
n.4207C>G
c.3966C>G (p.Ala1322=)
c.3042C>G (p.Ala1014=)
n.4189C>G
18g.45910619G=CA2300590880EPG5n.2291C=
c.4107C= (p.Ala1369=)
c.3847C= (n.3847C=)
n.886C=
c.732C= (p.Ala244=)
n.4142C=
c.4134C= (p.Ala1378=)
c.3993C= (p.Ala1331=)
c.3069C= (p.Ala1023=)
n.4207C=
c.3966C= (p.Ala1322=)
c.3042C= (p.Ala1014=)
n.4189C=
18g.45910619G>TCA503793742EPG5n.2291C>A
c.4107C>A (p.Ala1369=)
c.3847C>A (n.3847C>A)
n.886C>A
c.732C>A (p.Ala244=)
n.4142C>A
c.4134C>A (p.Ala1378=)
c.3993C>A (p.Ala1331=)
c.3069C>A (p.Ala1023=)
n.4207C>A
c.3966C>A (p.Ala1322=)
c.3042C>A (p.Ala1014=)
n.4189C>A
18g.45910620G>ACA402340059EPG5n.2290C>T
c.4106C>T (p.Ala1369Val)
c.3846C>T (n.3846C>T)
n.885C>T
c.731C>T (p.Ala244Val)
n.4141C>T
c.4133C>T (p.Ala1378Val)
c.3992C>T (p.Ala1331Val)
c.3068C>T (p.Ala1023Val)
n.4206C>T
c.3965C>T (p.Ala1322Val)
c.3041C>T (p.Ala1014Val)
n.4188C>T
 dbSNP
18g.45910620G>CCA402340057EPG5n.2290C>G
c.4106C>G (p.Ala1369Gly)
c.3846C>G (n.3846C>G)
n.885C>G
c.731C>G (p.Ala244Gly)
n.4141C>G
c.4133C>G (p.Ala1378Gly)
c.3992C>G (p.Ala1331Gly)
c.3068C>G (p.Ala1023Gly)
n.4206C>G
c.3965C>G (p.Ala1322Gly)
c.3041C>G (p.Ala1014Gly)
n.4188C>G
18g.45910620G=CA2300590881EPG5n.2290C=
c.4106C= (p.Ala1369=)
c.3846C= (n.3846C=)
n.885C=
c.731C= (p.Ala244=)
n.4141C=
c.4133C= (p.Ala1378=)
c.3992C= (p.Ala1331=)
c.3068C= (p.Ala1023=)
n.4206C=
c.3965C= (p.Ala1322=)
c.3041C= (p.Ala1014=)
n.4188C=
18g.45910620G>TCA402340058EPG5n.2290C>A
c.4106C>A (p.Ala1369Asp)
c.3846C>A (n.3846C>A)
n.885C>A
c.731C>A (p.Ala244Asp)
n.4141C>A
c.4133C>A (p.Ala1378Asp)
c.3992C>A (p.Ala1331Asp)
c.3068C>A (p.Ala1023Asp)
n.4206C>A
c.3965C>A (p.Ala1322Asp)
c.3041C>A (p.Ala1014Asp)
n.4188C>A
18g.45910621C>ACA402340060EPG5n.2289G>T
c.4105G>T (p.Ala1369Ser)
c.3845G>T (n.3845G>T)
n.884G>T
c.730G>T (p.Ala244Ser)
n.4140G>T
c.4132G>T (p.Ala1378Ser)
c.3991G>T (p.Ala1331Ser)
c.3067G>T (p.Ala1023Ser)
n.4205G>T
c.3964G>T (p.Ala1322Ser)
c.3040G>T (p.Ala1014Ser)
n.4187G>T
 dbSNP COSMIC
18g.45910621C=CA2300590882EPG5n.2289G=
c.4105G= (p.Ala1369=)
c.3845G= (n.3845G=)
n.884G=
c.730G= (p.Ala244=)
n.4140G=
c.4132G= (p.Ala1378=)
c.3991G= (p.Ala1331=)
c.3067G= (p.Ala1023=)
n.4205G=
c.3964G= (p.Ala1322=)
c.3040G= (p.Ala1014=)
n.4187G=
18g.45910621C>GCA402340062EPG5n.2289G>C
c.4105G>C (p.Ala1369Pro)
c.3845G>C (n.3845G>C)
n.884G>C
c.730G>C (p.Ala244Pro)
n.4140G>C
c.4132G>C (p.Ala1378Pro)
c.3991G>C (p.Ala1331Pro)
c.3067G>C (p.Ala1023Pro)
n.4205G>C
c.3964G>C (p.Ala1322Pro)
c.3040G>C (p.Ala1014Pro)
n.4187G>C
18g.45910621C>TCA402340061EPG5n.2289G>A
c.4105G>A (p.Ala1369Thr)
c.3845G>A (n.3845G>A)
n.884G>A
c.730G>A (p.Ala244Thr)
n.4140G>A
c.4132G>A (p.Ala1378Thr)
c.3991G>A (p.Ala1331Thr)
c.3067G>A (p.Ala1023Thr)
n.4205G>A
c.3964G>A (p.Ala1322Thr)
c.3040G>A (p.Ala1014Thr)
n.4187G>A
 gnomAD v4
18g.45910622C>ACA402340063EPG5n.2288G>T
c.4104G>T (p.Lys1368Asn)
c.3844G>T (n.3844G>T)
n.883G>T
c.729G>T (p.Lys243Asn)
n.4139G>T
c.4131G>T (p.Lys1377Asn)
c.3990G>T (p.Lys1330Asn)
c.3066G>T (p.Lys1022Asn)
n.4204G>T
c.3963G>T (p.Lys1321Asn)
c.3039G>T (p.Lys1013Asn)
n.4186G>T
18g.45910622C>GCA402340064EPG5n.2288G>C
c.4104G>C (p.Lys1368Asn)
c.3844G>C (n.3844G>C)
n.883G>C
c.729G>C (p.Lys243Asn)
n.4139G>C
c.4131G>C (p.Lys1377Asn)
c.3990G>C (p.Lys1330Asn)
c.3066G>C (p.Lys1022Asn)
n.4204G>C
c.3963G>C (p.Lys1321Asn)
c.3039G>C (p.Lys1013Asn)
n.4186G>C
18g.45910622C>TCA503793744EPG5n.2288G>A
c.4104G>A (p.Lys1368=)
c.3844G>A (n.3844G>A)
n.883G>A
c.729G>A (p.Lys243=)
n.4139G>A
c.4131G>A (p.Lys1377=)
c.3990G>A (p.Lys1330=)
c.3066G>A (p.Lys1022=)
n.4204G>A
c.3963G>A (p.Lys1321=)
c.3039G>A (p.Lys1013=)
n.4186G>A
18g.45910623T>ACA402340065EPG5n.2287A>T
c.4103A>T (p.Lys1368Met)
c.3843A>T (n.3843A>T)
n.882A>T
c.728A>T (p.Lys243Met)
n.4138A>T
c.4130A>T (p.Lys1377Met)
c.3989A>T (p.Lys1330Met)
c.3065A>T (p.Lys1022Met)
n.4203A>T
c.3962A>T (p.Lys1321Met)
c.3038A>T (p.Lys1013Met)
n.4185A>T
18g.45910623T>CCA402340066EPG5n.2287A>G
c.4103A>G (p.Lys1368Arg)
c.3843A>G (n.3843A>G)
n.882A>G
c.728A>G (p.Lys243Arg)
n.4138A>G
c.4130A>G (p.Lys1377Arg)
c.3989A>G (p.Lys1330Arg)
c.3065A>G (p.Lys1022Arg)
n.4203A>G
c.3962A>G (p.Lys1321Arg)
c.3038A>G (p.Lys1013Arg)
n.4185A>G
18g.45910623T>GCA402340067EPG5n.2287A>C
c.4103A>C (p.Lys1368Thr)
c.3843A>C (n.3843A>C)
n.882A>C
c.728A>C (p.Lys243Thr)
n.4138A>C
c.4130A>C (p.Lys1377Thr)
c.3989A>C (p.Lys1330Thr)
c.3065A>C (p.Lys1022Thr)
n.4203A>C
c.3962A>C (p.Lys1321Thr)
c.3038A>C (p.Lys1013Thr)
n.4185A>C
18g.45910624T>ACA402340068EPG5n.2286A>T
c.4102A>T (p.Lys1368Ter)
c.3842A>T (n.3842A>T)
n.881A>T
c.727A>T (p.Lys243Ter)
n.4137A>T
c.4129A>T (p.Lys1377Ter)
c.3988A>T (p.Lys1330Ter)
c.3064A>T (p.Lys1022Ter)
n.4202A>T
c.3961A>T (p.Lys1321Ter)
c.3037A>T (p.Lys1013Ter)
n.4184A>T
18g.45910624T>CCA8948983EPG5n.2286A>G
c.4102A>G (p.Lys1368Glu)
c.3842A>G (n.3842A>G)
n.881A>G
c.727A>G (p.Lys243Glu)
n.4137A>G
c.4129A>G (p.Lys1377Glu)
c.3988A>G (p.Lys1330Glu)
c.3064A>G (p.Lys1022Glu)
n.4202A>G
c.3961A>G (p.Lys1321Glu)
c.3037A>G (p.Lys1013Glu)
n.4184A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910624T>GCA402340069EPG5n.2286A>C
c.4102A>C (p.Lys1368Gln)
c.3842A>C (n.3842A>C)
n.881A>C
c.727A>C (p.Lys243Gln)
n.4137A>C
c.4129A>C (p.Lys1377Gln)
c.3988A>C (p.Lys1330Gln)
c.3064A>C (p.Lys1022Gln)
n.4202A>C
c.3961A>C (p.Lys1321Gln)
c.3037A>C (p.Lys1013Gln)
n.4184A>C
18g.45910624T=CA2300590883EPG5n.2286A=
c.4102A= (p.Lys1368=)
c.3842A= (n.3842A=)
n.881A=
c.727A= (p.Lys243=)
n.4137A=
c.4129A= (p.Lys1377=)
c.3988A= (p.Lys1330=)
c.3064A= (p.Lys1022=)
n.4202A=
c.3961A= (p.Lys1321=)
c.3037A= (p.Lys1013=)
n.4184A=
18g.45910625G>ACA503793748EPG5n.2285C>T
c.4101C>T (p.Ser1367=)
c.3841C>T (n.3841C>T)
n.880C>T
c.726C>T (p.Ser242=)
n.4136C>T
c.4128C>T (p.Ser1376=)
c.3987C>T (p.Ser1329=)
c.3063C>T (p.Ser1021=)
n.4201C>T
c.3960C>T (p.Ser1320=)
c.3036C>T (p.Ser1012=)
n.4183C>T
 dbSNP gnomAD v3 gnomAD v4
18g.45910625G>CCA402340070EPG5n.2285C>G
c.4101C>G (p.Ser1367Arg)
c.3841C>G (n.3841C>G)
n.880C>G
c.726C>G (p.Ser242Arg)
n.4136C>G
c.4128C>G (p.Ser1376Arg)
c.3987C>G (p.Ser1329Arg)
c.3063C>G (p.Ser1021Arg)
n.4201C>G
c.3960C>G (p.Ser1320Arg)
c.3036C>G (p.Ser1012Arg)
n.4183C>G
 gnomAD v4
18g.45910625G=CA2300590884EPG5n.2285C=
c.4101C= (p.Ser1367=)
c.3841C= (n.3841C=)
n.880C=
c.726C= (p.Ser242=)
n.4136C=
c.4128C= (p.Ser1376=)
c.3987C= (p.Ser1329=)
c.3063C= (p.Ser1021=)
n.4201C=
c.3960C= (p.Ser1320=)
c.3036C= (p.Ser1012=)
n.4183C=
18g.45910625G>TCA402340071EPG5n.2285C>A
c.4101C>A (p.Ser1367Arg)
c.3841C>A (n.3841C>A)
n.880C>A
c.726C>A (p.Ser242Arg)
n.4136C>A
c.4128C>A (p.Ser1376Arg)
c.3987C>A (p.Ser1329Arg)
c.3063C>A (p.Ser1021Arg)
n.4201C>A
c.3960C>A (p.Ser1320Arg)
c.3036C>A (p.Ser1012Arg)
n.4183C>A
18g.45910626C>ACA402340072EPG5n.2284G>T
c.4100G>T (p.Ser1367Ile)
c.3840G>T (n.3840G>T)
n.879G>T
c.725G>T (p.Ser242Ile)
n.4135G>T
c.4127G>T (p.Ser1376Ile)
c.3986G>T (p.Ser1329Ile)
c.3062G>T (p.Ser1021Ile)
n.4200G>T
c.3959G>T (p.Ser1320Ile)
c.3035G>T (p.Ser1012Ile)
n.4182G>T
18g.45910626C>GCA402340073EPG5n.2284G>C
c.4100G>C (p.Ser1367Thr)
c.3840G>C (n.3840G>C)
n.879G>C
c.725G>C (p.Ser242Thr)
n.4135G>C
c.4127G>C (p.Ser1376Thr)
c.3986G>C (p.Ser1329Thr)
c.3062G>C (p.Ser1021Thr)
n.4200G>C
c.3959G>C (p.Ser1320Thr)
c.3035G>C (p.Ser1012Thr)
n.4182G>C
18g.45910626C>TCA402340074EPG5n.2284G>A
c.4100G>A (p.Ser1367Asn)
c.3840G>A (n.3840G>A)
n.879G>A
c.725G>A (p.Ser242Asn)
n.4135G>A
c.4127G>A (p.Ser1376Asn)
c.3986G>A (p.Ser1329Asn)
c.3062G>A (p.Ser1021Asn)
n.4200G>A
c.3959G>A (p.Ser1320Asn)
c.3035G>A (p.Ser1012Asn)
n.4182G>A
18g.45910627T>ACA402340077EPG5n.2283A>T
c.4099A>T (p.Ser1367Cys)
c.3839A>T (n.3839A>T)
n.878A>T
c.724A>T (p.Ser242Cys)
n.4134A>T
c.4126A>T (p.Ser1376Cys)
c.3985A>T (p.Ser1329Cys)
c.3061A>T (p.Ser1021Cys)
n.4199A>T
c.3958A>T (p.Ser1320Cys)
c.3034A>T (p.Ser1012Cys)
n.4181A>T
18g.45910627T>CCA402340076EPG5n.2283A>G
c.4099A>G (p.Ser1367Gly)
c.3839A>G (n.3839A>G)
n.878A>G
c.724A>G (p.Ser242Gly)
n.4134A>G
c.4126A>G (p.Ser1376Gly)
c.3985A>G (p.Ser1329Gly)
c.3061A>G (p.Ser1021Gly)
n.4199A>G
c.3958A>G (p.Ser1320Gly)
c.3034A>G (p.Ser1012Gly)
n.4181A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.45910627T>GCA402340075EPG5n.2283A>C
c.4099A>C (p.Ser1367Arg)
c.3839A>C (n.3839A>C)
n.878A>C
c.724A>C (p.Ser242Arg)
n.4134A>C
c.4126A>C (p.Ser1376Arg)
c.3985A>C (p.Ser1329Arg)
c.3061A>C (p.Ser1021Arg)
n.4199A>C
c.3958A>C (p.Ser1320Arg)
c.3034A>C (p.Ser1012Arg)
n.4181A>C
 gnomAD v4
18g.45910627T=CA2300590885EPG5n.2283A=
c.4099A= (p.Ser1367=)
c.3839A= (n.3839A=)
n.878A=
c.724A= (p.Ser242=)
n.4134A=
c.4126A= (p.Ser1376=)
c.3985A= (p.Ser1329=)
c.3061A= (p.Ser1021=)
n.4199A=
c.3958A= (p.Ser1320=)
c.3034A= (p.Ser1012=)
n.4181A=

Number of alleles fetched