Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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=
18g.45910628T>ACA503793749EPG5n.2282A>T
c.4098A>T (p.Ala1366=)
c.3838A>T (n.3838A>T)
n.877A>T
c.723A>T (p.Ala241=)
n.4133A>T
c.4125A>T (p.Ala1375=)
c.3984A>T (p.Ala1328=)
c.3060A>T (p.Ala1020=)
n.4198A>T
c.3957A>T (p.Ala1319=)
c.3033A>T (p.Ala1011=)
n.4180A>T
18g.45910628T>CCA503793750EPG5n.2282A>G
c.4098A>G (p.Ala1366=)
c.3838A>G (n.3838A>G)
n.877A>G
c.723A>G (p.Ala241=)
n.4133A>G
c.4125A>G (p.Ala1375=)
c.3984A>G (p.Ala1328=)
c.3060A>G (p.Ala1020=)
n.4198A>G
c.3957A>G (p.Ala1319=)
c.3033A>G (p.Ala1011=)
n.4180A>G
18g.45910628T>GCA503793751EPG5n.2282A>C
c.4098A>C (p.Ala1366=)
c.3838A>C (n.3838A>C)
n.877A>C
c.723A>C (p.Ala241=)
n.4133A>C
c.4125A>C (p.Ala1375=)
c.3984A>C (p.Ala1328=)
c.3060A>C (p.Ala1020=)
n.4198A>C
c.3957A>C (p.Ala1319=)
c.3033A>C (p.Ala1011=)
n.4180A>C
18g.45910629G>ACA402340078EPG5n.2281C>T
c.4097C>T (p.Ala1366Val)
c.3837C>T (n.3837C>T)
n.876C>T
c.722C>T (p.Ala241Val)
n.4132C>T
c.4124C>T (p.Ala1375Val)
c.3983C>T (p.Ala1328Val)
c.3059C>T (p.Ala1020Val)
n.4197C>T
c.3956C>T (p.Ala1319Val)
c.3032C>T (p.Ala1011Val)
n.4179C>T
18g.45910629G>CCA402340079EPG5n.2281C>G
c.4097C>G (p.Ala1366Gly)
c.3837C>G (n.3837C>G)
n.876C>G
c.722C>G (p.Ala241Gly)
n.4132C>G
c.4124C>G (p.Ala1375Gly)
c.3983C>G (p.Ala1328Gly)
c.3059C>G (p.Ala1020Gly)
n.4197C>G
c.3956C>G (p.Ala1319Gly)
c.3032C>G (p.Ala1011Gly)
n.4179C>G
18g.45910629G>TCA402340080EPG5n.2281C>A
c.4097C>A (p.Ala1366Glu)
c.3837C>A (n.3837C>A)
n.876C>A
c.722C>A (p.Ala241Glu)
n.4132C>A
c.4124C>A (p.Ala1375Glu)
c.3983C>A (p.Ala1328Glu)
c.3059C>A (p.Ala1020Glu)
n.4197C>A
c.3956C>A (p.Ala1319Glu)
c.3032C>A (p.Ala1011Glu)
n.4179C>A
18g.45910630C>ACA402340081EPG5n.2280G>T
c.4096G>T (p.Ala1366Ser)
c.3836G>T (n.3836G>T)
n.875G>T
c.721G>T (p.Ala241Ser)
n.4131G>T
c.4123G>T (p.Ala1375Ser)
c.3982G>T (p.Ala1328Ser)
c.3058G>T (p.Ala1020Ser)
n.4196G>T
c.3955G>T (p.Ala1319Ser)
c.3031G>T (p.Ala1011Ser)
n.4178G>T
18g.45910630C>GCA402340082EPG5n.2280G>C
c.4096G>C (p.Ala1366Pro)
c.3836G>C (n.3836G>C)
n.875G>C
c.721G>C (p.Ala241Pro)
n.4131G>C
c.4123G>C (p.Ala1375Pro)
c.3982G>C (p.Ala1328Pro)
c.3058G>C (p.Ala1020Pro)
n.4196G>C
c.3955G>C (p.Ala1319Pro)
c.3031G>C (p.Ala1011Pro)
n.4178G>C
18g.45910630C>TCA402340083EPG5n.2280G>A
c.4096G>A (p.Ala1366Thr)
c.3836G>A (n.3836G>A)
n.875G>A
c.721G>A (p.Ala241Thr)
n.4131G>A
c.4123G>A (p.Ala1375Thr)
c.3982G>A (p.Ala1328Thr)
c.3058G>A (p.Ala1020Thr)
n.4196G>A
c.3955G>A (p.Ala1319Thr)
c.3031G>A (p.Ala1011Thr)
n.4178G>A
18g.45910631A>CCA503793753EPG5n.2279T>G
c.4095T>G (p.Ala1365=)
c.3835T>G (n.3835T>G)
n.874T>G
c.720T>G (p.Ala240=)
n.4130T>G
c.4122T>G (p.Ala1374=)
c.3981T>G (p.Ala1327=)
c.3057T>G (p.Ala1019=)
n.4195T>G
c.3954T>G (p.Ala1318=)
c.3030T>G (p.Ala1010=)
n.4177T>G
18g.45910631A>GCA503793754EPG5n.2279T>C
c.4095T>C (p.Ala1365=)
c.3835T>C (n.3835T>C)
n.874T>C
c.720T>C (p.Ala240=)
n.4130T>C
c.4122T>C (p.Ala1374=)
c.3981T>C (p.Ala1327=)
c.3057T>C (p.Ala1019=)
n.4195T>C
c.3954T>C (p.Ala1318=)
c.3030T>C (p.Ala1010=)
n.4177T>C
 ClinVar gnomAD v4
18g.45910631A>TCA503793755EPG5n.2279T>A
c.4095T>A (p.Ala1365=)
c.3835T>A (n.3835T>A)
n.874T>A
c.720T>A (p.Ala240=)
n.4130T>A
c.4122T>A (p.Ala1374=)
c.3981T>A (p.Ala1327=)
c.3057T>A (p.Ala1019=)
n.4195T>A
c.3954T>A (p.Ala1318=)
c.3030T>A (p.Ala1010=)
n.4177T>A
18g.45910632G>ACA402340084EPG5n.2278C>T
c.4094C>T (p.Ala1365Val)
c.3834C>T (n.3834C>T)
n.873C>T
c.719C>T (p.Ala240Val)
n.4129C>T
c.4121C>T (p.Ala1374Val)
c.3980C>T (p.Ala1327Val)
c.3056C>T (p.Ala1019Val)
n.4194C>T
c.3953C>T (p.Ala1318Val)
c.3029C>T (p.Ala1010Val)
n.4176C>T
18g.45910632G>CCA402340085EPG5n.2278C>G
c.4094C>G (p.Ala1365Gly)
c.3834C>G (n.3834C>G)
n.873C>G
c.719C>G (p.Ala240Gly)
n.4129C>G
c.4121C>G (p.Ala1374Gly)
c.3980C>G (p.Ala1327Gly)
c.3056C>G (p.Ala1019Gly)
n.4194C>G
c.3953C>G (p.Ala1318Gly)
c.3029C>G (p.Ala1010Gly)
n.4176C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.45910632G=CA2300590886EPG5n.2278C=
c.4094C= (p.Ala1365=)
c.3834C= (n.3834C=)
n.873C=
c.719C= (p.Ala240=)
n.4129C=
c.4121C= (p.Ala1374=)
c.3980C= (p.Ala1327=)
c.3056C= (p.Ala1019=)
n.4194C=
c.3953C= (p.Ala1318=)
c.3029C= (p.Ala1010=)
n.4176C=
18g.45910632G>TCA402340086EPG5n.2278C>A
c.4094C>A (p.Ala1365Asp)
c.3834C>A (n.3834C>A)
n.873C>A
c.719C>A (p.Ala240Asp)
n.4129C>A
c.4121C>A (p.Ala1374Asp)
c.3980C>A (p.Ala1327Asp)
c.3056C>A (p.Ala1019Asp)
n.4194C>A
c.3953C>A (p.Ala1318Asp)
c.3029C>A (p.Ala1010Asp)
n.4176C>A
18g.45910633C>ACA402340087EPG5n.2277G>T
c.4093G>T (p.Ala1365Ser)
c.3833G>T (n.3833G>T)
n.872G>T
c.718G>T (p.Ala240Ser)
n.4128G>T
c.4120G>T (p.Ala1374Ser)
c.3979G>T (p.Ala1327Ser)
c.3055G>T (p.Ala1019Ser)
n.4193G>T
c.3952G>T (p.Ala1318Ser)
c.3028G>T (p.Ala1010Ser)
n.4175G>T
18g.45910633C=CA2300590887EPG5n.2277G=
c.4093G= (p.Ala1365=)
c.3833G= (n.3833G=)
n.872G=
c.718G= (p.Ala240=)
n.4128G=
c.4120G= (p.Ala1374=)
c.3979G= (p.Ala1327=)
c.3055G= (p.Ala1019=)
n.4193G=
c.3952G= (p.Ala1318=)
c.3028G= (p.Ala1010=)
n.4175G=
18g.45910633C>GCA402340088EPG5n.2277G>C
c.4093G>C (p.Ala1365Pro)
c.3833G>C (n.3833G>C)
n.872G>C
c.718G>C (p.Ala240Pro)
n.4128G>C
c.4120G>C (p.Ala1374Pro)
c.3979G>C (p.Ala1327Pro)
c.3055G>C (p.Ala1019Pro)
n.4193G>C
c.3952G>C (p.Ala1318Pro)
c.3028G>C (p.Ala1010Pro)
n.4175G>C
18g.45910633C>TCA402340089EPG5n.2277G>A
c.4093G>A (p.Ala1365Thr)
c.3833G>A (n.3833G>A)
n.872G>A
c.718G>A (p.Ala240Thr)
n.4128G>A
c.4120G>A (p.Ala1374Thr)
c.3979G>A (p.Ala1327Thr)
c.3055G>A (p.Ala1019Thr)
n.4193G>A
c.3952G>A (p.Ala1318Thr)
c.3028G>A (p.Ala1010Thr)
n.4175G>A
 dbSNP gnomAD v2
18g.45910634A>CCA402340091EPG5n.2276T>G
c.4092T>G (p.His1364Gln)
c.3832T>G (n.3832T>G)
n.871T>G
c.717T>G (p.His239Gln)
n.4127T>G
c.4119T>G (p.His1373Gln)
c.3978T>G (p.His1326Gln)
c.3054T>G (p.His1018Gln)
n.4192T>G
c.3951T>G (p.His1317Gln)
c.3027T>G (p.His1009Gln)
n.4174T>G
18g.45910634A>GCA503793759EPG5n.2276T>C
c.4092T>C (p.His1364=)
c.3832T>C (n.3832T>C)
n.871T>C
c.717T>C (p.His239=)
n.4127T>C
c.4119T>C (p.His1373=)
c.3978T>C (p.His1326=)
c.3054T>C (p.His1018=)
n.4192T>C
c.3951T>C (p.His1317=)
c.3027T>C (p.His1009=)
n.4174T>C
18g.45910634A>TCA402340090EPG5n.2276T>A
c.4092T>A (p.His1364Gln)
c.3832T>A (n.3832T>A)
n.871T>A
c.717T>A (p.His239Gln)
n.4127T>A
c.4119T>A (p.His1373Gln)
c.3978T>A (p.His1326Gln)
c.3054T>A (p.His1018Gln)
n.4192T>A
c.3951T>A (p.His1317Gln)
c.3027T>A (p.His1009Gln)
n.4174T>A
18g.45910635T>ACA402340092EPG5n.2275A>T
c.4091A>T (p.His1364Leu)
c.3831A>T (n.3831A>T)
n.870A>T
c.716A>T (p.His239Leu)
n.4126A>T
c.4118A>T (p.His1373Leu)
c.3977A>T (p.His1326Leu)
c.3053A>T (p.His1018Leu)
n.4191A>T
c.3950A>T (p.His1317Leu)
c.3026A>T (p.His1009Leu)
n.4173A>T
18g.45910635T>CCA8948984EPG5n.2275A>G
c.4091A>G (p.His1364Arg)
c.3831A>G (n.3831A>G)
n.870A>G
c.716A>G (p.His239Arg)
n.4126A>G
c.4118A>G (p.His1373Arg)
c.3977A>G (p.His1326Arg)
c.3053A>G (p.His1018Arg)
n.4191A>G
c.3950A>G (p.His1317Arg)
c.3026A>G (p.His1009Arg)
n.4173A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910635T>GCA402340093EPG5n.2275A>C
c.4091A>C (p.His1364Pro)
c.3831A>C (n.3831A>C)
n.870A>C
c.716A>C (p.His239Pro)
n.4126A>C
c.4118A>C (p.His1373Pro)
c.3977A>C (p.His1326Pro)
c.3053A>C (p.His1018Pro)
n.4191A>C
c.3950A>C (p.His1317Pro)
c.3026A>C (p.His1009Pro)
n.4173A>C
18g.45910635T=CA2300590888EPG5n.2275A=
c.4091A= (p.His1364=)
c.3831A= (n.3831A=)
n.870A=
c.716A= (p.His239=)
n.4126A=
c.4118A= (p.His1373=)
c.3977A= (p.His1326=)
c.3053A= (p.His1018=)
n.4191A=
c.3950A= (p.His1317=)
c.3026A= (p.His1009=)
n.4173A=
18g.45910636G>ACA402340094EPG5n.2274C>T
c.4090C>T (p.His1364Tyr)
c.3830C>T (n.3830C>T)
n.869C>T
c.715C>T (p.His239Tyr)
n.4125C>T
c.4117C>T (p.His1373Tyr)
c.3976C>T (p.His1326Tyr)
c.3052C>T (p.His1018Tyr)
n.4190C>T
c.3949C>T (p.His1317Tyr)
c.3025C>T (p.His1009Tyr)
n.4172C>T
18g.45910636G>CCA402340095EPG5n.2274C>G
c.4090C>G (p.His1364Asp)
c.3830C>G (n.3830C>G)
n.869C>G
c.715C>G (p.His239Asp)
n.4125C>G
c.4117C>G (p.His1373Asp)
c.3976C>G (p.His1326Asp)
c.3052C>G (p.His1018Asp)
n.4190C>G
c.3949C>G (p.His1317Asp)
c.3025C>G (p.His1009Asp)
n.4172C>G
18g.45910636G>TCA402340096EPG5n.2274C>A
c.4090C>A (p.His1364Asn)
c.3830C>A (n.3830C>A)
n.869C>A
c.715C>A (p.His239Asn)
n.4125C>A
c.4117C>A (p.His1373Asn)
c.3976C>A (p.His1326Asn)
c.3052C>A (p.His1018Asn)
n.4190C>A
c.3949C>A (p.His1317Asn)
c.3025C>A (p.His1009Asn)
n.4172C>A
18g.45910637G>ACA8948985EPG5n.2273C>T
c.4089C>T (p.His1363=)
c.3829C>T (n.3829C>T)
n.868C>T
c.714C>T (p.His238=)
n.4124C>T
c.4116C>T (p.His1372=)
c.3975C>T (p.His1325=)
c.3051C>T (p.His1017=)
n.4189C>T
c.3948C>T (p.His1316=)
c.3024C>T (p.His1008=)
n.4171C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.45910637G>CCA402340097EPG5n.2273C>G
c.4089C>G (p.His1363Gln)
c.3829C>G (n.3829C>G)
n.868C>G
c.714C>G (p.His238Gln)
n.4124C>G
c.4116C>G (p.His1372Gln)
c.3975C>G (p.His1325Gln)
c.3051C>G (p.His1017Gln)
n.4189C>G
c.3948C>G (p.His1316Gln)
c.3024C>G (p.His1008Gln)
n.4171C>G
18g.45910637G=CA2300590889EPG5n.2273C=
c.4089C= (p.His1363=)
c.3829C= (n.3829C=)
n.868C=
c.714C= (p.His238=)
n.4124C=
c.4116C= (p.His1372=)
c.3975C= (p.His1325=)
c.3051C= (p.His1017=)
n.4189C=
c.3948C= (p.His1316=)
c.3024C= (p.His1008=)
n.4171C=
18g.45910637G>TCA402340098EPG5n.2273C>A
c.4089C>A (p.His1363Gln)
c.3829C>A (n.3829C>A)
n.868C>A
c.714C>A (p.His238Gln)
n.4124C>A
c.4116C>A (p.His1372Gln)
c.3975C>A (p.His1325Gln)
c.3051C>A (p.His1017Gln)
n.4189C>A
c.3948C>A (p.His1316Gln)
c.3024C>A (p.His1008Gln)
n.4171C>A
18g.45910638T>ACA402340099EPG5n.2272A>T
c.4088A>T (p.His1363Leu)
c.3828A>T (n.3828A>T)
n.867A>T
c.713A>T (p.His238Leu)
n.4123A>T
c.4115A>T (p.His1372Leu)
c.3974A>T (p.His1325Leu)
c.3050A>T (p.His1017Leu)
n.4188A>T
c.3947A>T (p.His1316Leu)
c.3023A>T (p.His1008Leu)
n.4170A>T
18g.45910638T>CCA402340100EPG5n.2272A>G
c.4088A>G (p.His1363Arg)
c.3828A>G (n.3828A>G)
n.867A>G
c.713A>G (p.His238Arg)
n.4123A>G
c.4115A>G (p.His1372Arg)
c.3974A>G (p.His1325Arg)
c.3050A>G (p.His1017Arg)
n.4188A>G
c.3947A>G (p.His1316Arg)
c.3023A>G (p.His1008Arg)
n.4170A>G
18g.45910638T>GCA402340101EPG5n.2272A>C
c.4088A>C (p.His1363Pro)
c.3828A>C (n.3828A>C)
n.867A>C
c.713A>C (p.His238Pro)
n.4123A>C
c.4115A>C (p.His1372Pro)
c.3974A>C (p.His1325Pro)
c.3050A>C (p.His1017Pro)
n.4188A>C
c.3947A>C (p.His1316Pro)
c.3023A>C (p.His1008Pro)
n.4170A>C
18g.45910639G>ACA402340103EPG5n.2271C>T
c.4087C>T (p.His1363Tyr)
c.3827C>T (n.3827C>T)
n.866C>T
c.712C>T (p.His238Tyr)
n.4122C>T
c.4114C>T (p.His1372Tyr)
c.3973C>T (p.His1325Tyr)
c.3049C>T (p.His1017Tyr)
n.4187C>T
c.3946C>T (p.His1316Tyr)
c.3022C>T (p.His1008Tyr)
n.4169C>T
18g.45910639G>CCA402340102EPG5n.2271C>G
c.4087C>G (p.His1363Asp)
c.3827C>G (n.3827C>G)
n.866C>G
c.712C>G (p.His238Asp)
n.4122C>G
c.4114C>G (p.His1372Asp)
c.3973C>G (p.His1325Asp)
c.3049C>G (p.His1017Asp)
n.4187C>G
c.3946C>G (p.His1316Asp)
c.3022C>G (p.His1008Asp)
n.4169C>G
18g.45910639G=CA2300590890EPG5n.2271C=
c.4087C= (p.His1363=)
c.3827C= (n.3827C=)
n.866C=
c.712C= (p.His238=)
n.4122C=
c.4114C= (p.His1372=)
c.3973C= (p.His1325=)
c.3049C= (p.His1017=)
n.4187C=
c.3946C= (p.His1316=)
c.3022C= (p.His1008=)
n.4169C=
18g.45910639G>TCA299760431EPG5n.2271C>A
c.4087C>A (p.His1363Asn)
c.3827C>A (n.3827C>A)
n.866C>A
c.712C>A (p.His238Asn)
n.4122C>A
c.4114C>A (p.His1372Asn)
c.3973C>A (p.His1325Asn)
c.3049C>A (p.His1017Asn)
n.4187C>A
c.3946C>A (p.His1316Asn)
c.3022C>A (p.His1008Asn)
n.4169C>A
 dbSNP gnomAD v3 gnomAD v4
18g.45910640G>ACA503793763EPG5n.2270C>T
c.4086C>T (p.Phe1362=)
c.3826C>T (n.3826C>T)
n.865C>T
c.711C>T (p.Phe237=)
n.4121C>T
c.4113C>T (p.Phe1371=)
c.3972C>T (p.Phe1324=)
c.3048C>T (p.Phe1016=)
n.4186C>T
c.3945C>T (p.Phe1315=)
c.3021C>T (p.Phe1007=)
n.4168C>T
18g.45910640G>CCA299760432EPG5n.2270C>G
c.4086C>G (p.Phe1362Leu)
c.3826C>G (n.3826C>G)
n.865C>G
c.711C>G (p.Phe237Leu)
n.4121C>G
c.4113C>G (p.Phe1371Leu)
c.3972C>G (p.Phe1324Leu)
c.3048C>G (p.Phe1016Leu)
n.4186C>G
c.3945C>G (p.Phe1315Leu)
c.3021C>G (p.Phe1007Leu)
n.4168C>G
 dbSNP gnomAD v3 gnomAD v4
18g.45910640G=CA2300590891EPG5n.2270C=
c.4086C= (p.Phe1362=)
c.3826C= (n.3826C=)
n.865C=
c.711C= (p.Phe237=)
n.4121C=
c.4113C= (p.Phe1371=)
c.3972C= (p.Phe1324=)
c.3048C= (p.Phe1016=)
n.4186C=
c.3945C= (p.Phe1315=)
c.3021C= (p.Phe1007=)
n.4168C=
18g.45910640G>TCA402340104EPG5n.2270C>A
c.4086C>A (p.Phe1362Leu)
c.3826C>A (n.3826C>A)
n.865C>A
c.711C>A (p.Phe237Leu)
n.4121C>A
c.4113C>A (p.Phe1371Leu)
c.3972C>A (p.Phe1324Leu)
c.3048C>A (p.Phe1016Leu)
n.4186C>A
c.3945C>A (p.Phe1315Leu)
c.3021C>A (p.Phe1007Leu)
n.4168C>A
18g.45910641A>CCA402340105EPG5n.2269T>G
c.4085T>G (p.Phe1362Cys)
c.3825T>G (n.3825T>G)
n.864T>G
c.710T>G (p.Phe237Cys)
n.4120T>G
c.4112T>G (p.Phe1371Cys)
c.3971T>G (p.Phe1324Cys)
c.3047T>G (p.Phe1016Cys)
n.4185T>G
c.3944T>G (p.Phe1315Cys)
c.3020T>G (p.Phe1007Cys)
n.4167T>G
18g.45910641A>GCA402340106EPG5n.2269T>C
c.4085T>C (p.Phe1362Ser)
c.3825T>C (n.3825T>C)
n.864T>C
c.710T>C (p.Phe237Ser)
n.4120T>C
c.4112T>C (p.Phe1371Ser)
c.3971T>C (p.Phe1324Ser)
c.3047T>C (p.Phe1016Ser)
n.4185T>C
c.3944T>C (p.Phe1315Ser)
c.3020T>C (p.Phe1007Ser)
n.4167T>C
 gnomAD v4
18g.45910641A>TCA402340107EPG5n.2269T>A
c.4085T>A (p.Phe1362Tyr)
c.3825T>A (n.3825T>A)
n.864T>A
c.710T>A (p.Phe237Tyr)
n.4120T>A
c.4112T>A (p.Phe1371Tyr)
c.3971T>A (p.Phe1324Tyr)
c.3047T>A (p.Phe1016Tyr)
n.4185T>A
c.3944T>A (p.Phe1315Tyr)
c.3020T>A (p.Phe1007Tyr)
n.4167T>A
18g.45910642A>CCA402340108EPG5n.2268T>G
c.4084T>G (p.Phe1362Val)
c.3824T>G (n.3824T>G)
n.863T>G
c.709T>G (p.Phe237Val)
n.4119T>G
c.4111T>G (p.Phe1371Val)
c.3970T>G (p.Phe1324Val)
c.3046T>G (p.Phe1016Val)
n.4184T>G
c.3943T>G (p.Phe1315Val)
c.3019T>G (p.Phe1007Val)
n.4166T>G
18g.45910642A>GCA402340109EPG5n.2268T>C
c.4084T>C (p.Phe1362Leu)
c.3824T>C (n.3824T>C)
n.863T>C
c.709T>C (p.Phe237Leu)
n.4119T>C
c.4111T>C (p.Phe1371Leu)
c.3970T>C (p.Phe1324Leu)
c.3046T>C (p.Phe1016Leu)
n.4184T>C
c.3943T>C (p.Phe1315Leu)
c.3019T>C (p.Phe1007Leu)
n.4166T>C
18g.45910642A>TCA402340110EPG5n.2268T>A
c.4084T>A (p.Phe1362Ile)
c.3824T>A (n.3824T>A)
n.863T>A
c.709T>A (p.Phe237Ile)
n.4119T>A
c.4111T>A (p.Phe1371Ile)
c.3970T>A (p.Phe1324Ile)
c.3046T>A (p.Phe1016Ile)
n.4184T>A
c.3943T>A (p.Phe1315Ile)
c.3019T>A (p.Phe1007Ile)
n.4166T>A
18g.45910643G>ACA503793766EPG5n.2267C>T
c.4083C>T (p.Asp1361=)
c.3823C>T (n.3823C>T)
n.862C>T
c.708C>T (p.Asp236=)
n.4118C>T
c.4110C>T (p.Asp1370=)
c.3969C>T (p.Asp1323=)
c.3045C>T (p.Asp1015=)
n.4183C>T
c.3942C>T (p.Asp1314=)
c.3018C>T (p.Asp1006=)
n.4165C>T
 gnomAD v4
18g.45910643G>CCA402340111EPG5n.2267C>G
c.4083C>G (p.Asp1361Glu)
c.3823C>G (n.3823C>G)
n.862C>G
c.708C>G (p.Asp236Glu)
n.4118C>G
c.4110C>G (p.Asp1370Glu)
c.3969C>G (p.Asp1323Glu)
c.3045C>G (p.Asp1015Glu)
n.4183C>G
c.3942C>G (p.Asp1314Glu)
c.3018C>G (p.Asp1006Glu)
n.4165C>G
 ClinVar dbSNP
18g.45910643G>TCA402340112EPG5n.2267C>A
c.4083C>A (p.Asp1361Glu)
c.3823C>A (n.3823C>A)
n.862C>A
c.708C>A (p.Asp236Glu)
n.4118C>A
c.4110C>A (p.Asp1370Glu)
c.3969C>A (p.Asp1323Glu)
c.3045C>A (p.Asp1015Glu)
n.4183C>A
c.3942C>A (p.Asp1314Glu)
c.3018C>A (p.Asp1006Glu)
n.4165C>A
18g.45910644T>ACA402340113EPG5n.2266A>T
c.4082A>T (p.Asp1361Val)
c.3822A>T (n.3822A>T)
n.861A>T
c.707A>T (p.Asp236Val)
n.4117A>T
c.4109A>T (p.Asp1370Val)
c.3968A>T (p.Asp1323Val)
c.3044A>T (p.Asp1015Val)
n.4182A>T
c.3941A>T (p.Asp1314Val)
c.3017A>T (p.Asp1006Val)
n.4164A>T
18g.45910644T>CCA402340114EPG5n.2266A>G
c.4082A>G (p.Asp1361Gly)
c.3822A>G (n.3822A>G)
n.861A>G
c.707A>G (p.Asp236Gly)
n.4117A>G
c.4109A>G (p.Asp1370Gly)
c.3968A>G (p.Asp1323Gly)
c.3044A>G (p.Asp1015Gly)
n.4182A>G
c.3941A>G (p.Asp1314Gly)
c.3017A>G (p.Asp1006Gly)
n.4164A>G
18g.45910644T>GCA402340115EPG5n.2266A>C
c.4082A>C (p.Asp1361Ala)
c.3822A>C (n.3822A>C)
n.861A>C
c.707A>C (p.Asp236Ala)
n.4117A>C
c.4109A>C (p.Asp1370Ala)
c.3968A>C (p.Asp1323Ala)
c.3044A>C (p.Asp1015Ala)
n.4182A>C
c.3941A>C (p.Asp1314Ala)
c.3017A>C (p.Asp1006Ala)
n.4164A>C
18g.45910645C>ACA402340118EPG5n.2265G>T
c.4081G>T (p.Asp1361Tyr)
c.3821G>T (n.3821G>T)
n.860G>T
c.706G>T (p.Asp236Tyr)
n.4116G>T
c.4108G>T (p.Asp1370Tyr)
c.3967G>T (p.Asp1323Tyr)
c.3043G>T (p.Asp1015Tyr)
n.4181G>T
c.3940G>T (p.Asp1314Tyr)
c.3016G>T (p.Asp1006Tyr)
n.4163G>T
18g.45910645C=CA2300590892EPG5n.2265G=
c.4081G= (p.Asp1361=)
c.3821G= (n.3821G=)
n.860G=
c.706G= (p.Asp236=)
n.4116G=
c.4108G= (p.Asp1370=)
c.3967G= (p.Asp1323=)
c.3043G= (p.Asp1015=)
n.4181G=
c.3940G= (p.Asp1314=)
c.3016G= (p.Asp1006=)
n.4163G=
18g.45910645C>GCA402340117EPG5n.2265G>C
c.4081G>C (p.Asp1361His)
c.3821G>C (n.3821G>C)
n.860G>C
c.706G>C (p.Asp236His)
n.4116G>C
c.4108G>C (p.Asp1370His)
c.3967G>C (p.Asp1323His)
c.3043G>C (p.Asp1015His)
n.4181G>C
c.3940G>C (p.Asp1314His)
c.3016G>C (p.Asp1006His)
n.4163G>C
 dbSNP gnomAD v2 gnomAD v4
18g.45910645C>TCA402340116EPG5n.2265G>A
c.4081G>A (p.Asp1361Asn)
c.3821G>A (n.3821G>A)
n.860G>A
c.706G>A (p.Asp236Asn)
n.4116G>A
c.4108G>A (p.Asp1370Asn)
c.3967G>A (p.Asp1323Asn)
c.3043G>A (p.Asp1015Asn)
n.4181G>A
c.3940G>A (p.Asp1314Asn)
c.3016G>A (p.Asp1006Asn)
n.4163G>A
18g.45910646A=CA2300590893EPG5n.2264T=
c.4080T= (p.Ala1360=)
c.3820T= (n.3820T=)
n.859T=
c.705T= (p.Ala235=)
n.4115T=
c.4107T= (p.Ala1369=)
c.3966T= (p.Ala1322=)
c.3042T= (p.Ala1014=)
n.4180T=
c.3939T= (p.Ala1313=)
c.3015T= (p.Ala1005=)
n.4162T=
18g.45910646A>CCA503793770EPG5n.2264T>G
c.4080T>G (p.Ala1360=)
c.3820T>G (n.3820T>G)
n.859T>G
c.705T>G (p.Ala235=)
n.4115T>G
c.4107T>G (p.Ala1369=)
c.3966T>G (p.Ala1322=)
c.3042T>G (p.Ala1014=)
n.4180T>G
c.3939T>G (p.Ala1313=)
c.3015T>G (p.Ala1005=)
n.4162T>G
 gnomAD v4
18g.45910646A>GCA8948986EPG5n.2264T>C
c.4080T>C (p.Ala1360=)
c.3820T>C (n.3820T>C)
n.859T>C
c.705T>C (p.Ala235=)
n.4115T>C
c.4107T>C (p.Ala1369=)
c.3966T>C (p.Ala1322=)
c.3042T>C (p.Ala1014=)
n.4180T>C
c.3939T>C (p.Ala1313=)
c.3015T>C (p.Ala1005=)
n.4162T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910646A>TCA503793771EPG5n.2264T>A
c.4080T>A (p.Ala1360=)
c.3820T>A (n.3820T>A)
n.859T>A
c.705T>A (p.Ala235=)
n.4115T>A
c.4107T>A (p.Ala1369=)
c.3966T>A (p.Ala1322=)
c.3042T>A (p.Ala1014=)
n.4180T>A
c.3939T>A (p.Ala1313=)
c.3015T>A (p.Ala1005=)
n.4162T>A
18g.45910647G>ACA402340119EPG5n.2263C>T
c.4079C>T (p.Ala1360Val)
c.3819C>T (n.3819C>T)
n.858C>T
c.704C>T (p.Ala235Val)
n.4114C>T
c.4106C>T (p.Ala1369Val)
c.3965C>T (p.Ala1322Val)
c.3041C>T (p.Ala1014Val)
n.4179C>T
c.3938C>T (p.Ala1313Val)
c.3014C>T (p.Ala1005Val)
n.4161C>T
 gnomAD v4
18g.45910647G>CCA402340120EPG5n.2263C>G
c.4079C>G (p.Ala1360Gly)
c.3819C>G (n.3819C>G)
n.858C>G
c.704C>G (p.Ala235Gly)
n.4114C>G
c.4106C>G (p.Ala1369Gly)
c.3965C>G (p.Ala1322Gly)
c.3041C>G (p.Ala1014Gly)
n.4179C>G
c.3938C>G (p.Ala1313Gly)
c.3014C>G (p.Ala1005Gly)
n.4161C>G
18g.45910647G>TCA402340121EPG5n.2263C>A
c.4079C>A (p.Ala1360Asp)
c.3819C>A (n.3819C>A)
n.858C>A
c.704C>A (p.Ala235Asp)
n.4114C>A
c.4106C>A (p.Ala1369Asp)
c.3965C>A (p.Ala1322Asp)
c.3041C>A (p.Ala1014Asp)
n.4179C>A
c.3938C>A (p.Ala1313Asp)
c.3014C>A (p.Ala1005Asp)
n.4161C>A
 gnomAD v4
18g.45910648C>ACA402340122EPG5n.2262G>T
c.4078G>T (p.Ala1360Ser)
c.3818G>T (n.3818G>T)
n.857G>T
c.703G>T (p.Ala235Ser)
n.4113G>T
c.4105G>T (p.Ala1369Ser)
c.3964G>T (p.Ala1322Ser)
c.3040G>T (p.Ala1014Ser)
n.4178G>T
c.3937G>T (p.Ala1313Ser)
c.3013G>T (p.Ala1005Ser)
n.4160G>T
18g.45910648C=CA2300590894EPG5n.2262G=
c.4078G= (p.Ala1360=)
c.3818G= (n.3818G=)
n.857G=
c.703G= (p.Ala235=)
n.4113G=
c.4105G= (p.Ala1369=)
c.3964G= (p.Ala1322=)
c.3040G= (p.Ala1014=)
n.4178G=
c.3937G= (p.Ala1313=)
c.3013G= (p.Ala1005=)
n.4160G=
18g.45910648C>GCA402340123EPG5n.2262G>C
c.4078G>C (p.Ala1360Pro)
c.3818G>C (n.3818G>C)
n.857G>C
c.703G>C (p.Ala235Pro)
n.4113G>C
c.4105G>C (p.Ala1369Pro)
c.3964G>C (p.Ala1322Pro)
c.3040G>C (p.Ala1014Pro)
n.4178G>C
c.3937G>C (p.Ala1313Pro)
c.3013G>C (p.Ala1005Pro)
n.4160G>C
18g.45910648C>TCA402340124EPG5n.2262G>A
c.4078G>A (p.Ala1360Thr)
c.3818G>A (n.3818G>A)
n.857G>A
c.703G>A (p.Ala235Thr)
n.4113G>A
c.4105G>A (p.Ala1369Thr)
c.3964G>A (p.Ala1322Thr)
c.3040G>A (p.Ala1014Thr)
n.4178G>A
c.3937G>A (p.Ala1313Thr)
c.3013G>A (p.Ala1005Thr)
n.4160G>A
 dbSNP gnomAD v4
18g.45910649C>ACA503793772EPG5n.2261G>T
c.4077G>T (p.Val1359=)
c.3817G>T (n.3817G>T)
n.856G>T
c.702G>T (p.Val234=)
n.4112G>T
c.4104G>T (p.Val1368=)
c.3963G>T (p.Val1321=)
c.3039G>T (p.Val1013=)
n.4177G>T
c.3936G>T (p.Val1312=)
c.3012G>T (p.Val1004=)
n.4159G>T
18g.45910649C>GCA503793774EPG5n.2261G>C
c.4077G>C (p.Val1359=)
c.3817G>C (n.3817G>C)
n.856G>C
c.702G>C (p.Val234=)
n.4112G>C
c.4104G>C (p.Val1368=)
c.3963G>C (p.Val1321=)
c.3039G>C (p.Val1013=)
n.4177G>C
c.3936G>C (p.Val1312=)
c.3012G>C (p.Val1004=)
n.4159G>C
18g.45910649C>TCA503793776EPG5n.2261G>A
c.4077G>A (p.Val1359=)
c.3817G>A (n.3817G>A)
n.856G>A
c.702G>A (p.Val234=)
n.4112G>A
c.4104G>A (p.Val1368=)
c.3963G>A (p.Val1321=)
c.3039G>A (p.Val1013=)
n.4177G>A
c.3936G>A (p.Val1312=)
c.3012G>A (p.Val1004=)
n.4159G>A
18g.45910650A>CCA402340127EPG5n.2260T>G
c.4076T>G (p.Val1359Gly)
c.3816T>G (n.3816T>G)
n.855T>G
c.701T>G (p.Val234Gly)
n.4111T>G
c.4103T>G (p.Val1368Gly)
c.3962T>G (p.Val1321Gly)
c.3038T>G (p.Val1013Gly)
n.4176T>G
c.3935T>G (p.Val1312Gly)
c.3011T>G (p.Val1004Gly)
n.4158T>G
18g.45910650A>GCA402340126EPG5n.2260T>C
c.4076T>C (p.Val1359Ala)
c.3816T>C (n.3816T>C)
n.855T>C
c.701T>C (p.Val234Ala)
n.4111T>C
c.4103T>C (p.Val1368Ala)
c.3962T>C (p.Val1321Ala)
c.3038T>C (p.Val1013Ala)
n.4176T>C
c.3935T>C (p.Val1312Ala)
c.3011T>C (p.Val1004Ala)
n.4158T>C
18g.45910650A>TCA402340125EPG5n.2260T>A
c.4076T>A (p.Val1359Glu)
c.3816T>A (n.3816T>A)
n.855T>A
c.701T>A (p.Val234Glu)
n.4111T>A
c.4103T>A (p.Val1368Glu)
c.3962T>A (p.Val1321Glu)
c.3038T>A (p.Val1013Glu)
n.4176T>A
c.3935T>A (p.Val1312Glu)
c.3011T>A (p.Val1004Glu)
n.4158T>A
18g.45910651C>ACA402340128EPG5n.2259G>T
c.4075G>T (p.Val1359Leu)
c.3815G>T (n.3815G>T)
n.854G>T
c.700G>T (p.Val234Leu)
n.4110G>T
c.4102G>T (p.Val1368Leu)
c.3961G>T (p.Val1321Leu)
c.3037G>T (p.Val1013Leu)
n.4175G>T
c.3934G>T (p.Val1312Leu)
c.3010G>T (p.Val1004Leu)
n.4157G>T
18g.45910651C>GCA402340129EPG5n.2259G>C
c.4075G>C (p.Val1359Leu)
c.3815G>C (n.3815G>C)
n.854G>C
c.700G>C (p.Val234Leu)
n.4110G>C
c.4102G>C (p.Val1368Leu)
c.3961G>C (p.Val1321Leu)
c.3037G>C (p.Val1013Leu)
n.4175G>C
c.3934G>C (p.Val1312Leu)
c.3010G>C (p.Val1004Leu)
n.4157G>C
 gnomAD v4
18g.45910651C>TCA402340130EPG5n.2259G>A
c.4075G>A (p.Val1359Met)
c.3815G>A (n.3815G>A)
n.854G>A
c.700G>A (p.Val234Met)
n.4110G>A
c.4102G>A (p.Val1368Met)
c.3961G>A (p.Val1321Met)
c.3037G>A (p.Val1013Met)
n.4175G>A
c.3934G>A (p.Val1312Met)
c.3010G>A (p.Val1004Met)
n.4157G>A
 gnomAD v4
18g.45910652C>ACA402340131EPG5n.2258G>T
c.4074G>T (p.Glu1358Asp)
c.3814G>T (n.3814G>T)
n.853G>T
c.699G>T (p.Glu233Asp)
n.4109G>T
c.4101G>T (p.Glu1367Asp)
c.3960G>T (p.Glu1320Asp)
c.3036G>T (p.Glu1012Asp)
n.4174G>T
c.3933G>T (p.Glu1311Asp)
c.3009G>T (p.Glu1003Asp)
n.4156G>T
18g.45910652C=CA2300590895EPG5n.2258G=
c.4074G= (p.Glu1358=)
c.3814G= (n.3814G=)
n.853G=
c.699G= (p.Glu233=)
n.4109G=
c.4101G= (p.Glu1367=)
c.3960G= (p.Glu1320=)
c.3036G= (p.Glu1012=)
n.4174G=
c.3933G= (p.Glu1311=)
c.3009G= (p.Glu1003=)
n.4156G=
18g.45910652C>GCA402340132EPG5n.2258G>C
c.4074G>C (p.Glu1358Asp)
c.3814G>C (n.3814G>C)
n.853G>C
c.699G>C (p.Glu233Asp)
n.4109G>C
c.4101G>C (p.Glu1367Asp)
c.3960G>C (p.Glu1320Asp)
c.3036G>C (p.Glu1012Asp)
n.4174G>C
c.3933G>C (p.Glu1311Asp)
c.3009G>C (p.Glu1003Asp)
n.4156G>C
 gnomAD v4
18g.45910652C>TCA8948987EPG5n.2258G>A
c.4074G>A (p.Glu1358=)
c.3814G>A (n.3814G>A)
n.853G>A
c.699G>A (p.Glu233=)
n.4109G>A
c.4101G>A (p.Glu1367=)
c.3960G>A (p.Glu1320=)
c.3036G>A (p.Glu1012=)
n.4174G>A
c.3933G>A (p.Glu1311=)
c.3009G>A (p.Glu1003=)
n.4156G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910653T>ACA402340133EPG5n.2257A>T
c.4073A>T (p.Glu1358Val)
c.3813A>T (n.3813A>T)
n.852A>T
c.698A>T (p.Glu233Val)
n.4108A>T
c.4100A>T (p.Glu1367Val)
c.3959A>T (p.Glu1320Val)
c.3035A>T (p.Glu1012Val)
n.4173A>T
c.3932A>T (p.Glu1311Val)
c.3008A>T (p.Glu1003Val)
n.4155A>T
18g.45910653T>CCA402340135EPG5n.2257A>G
c.4073A>G (p.Glu1358Gly)
c.3813A>G (n.3813A>G)
n.852A>G
c.698A>G (p.Glu233Gly)
n.4108A>G
c.4100A>G (p.Glu1367Gly)
c.3959A>G (p.Glu1320Gly)
c.3035A>G (p.Glu1012Gly)
n.4173A>G
c.3932A>G (p.Glu1311Gly)
c.3008A>G (p.Glu1003Gly)
n.4155A>G
18g.45910653T>GCA402340134EPG5n.2257A>C
c.4073A>C (p.Glu1358Ala)
c.3813A>C (n.3813A>C)
n.852A>C
c.698A>C (p.Glu233Ala)
n.4108A>C
c.4100A>C (p.Glu1367Ala)
c.3959A>C (p.Glu1320Ala)
c.3035A>C (p.Glu1012Ala)
n.4173A>C
c.3932A>C (p.Glu1311Ala)
c.3008A>C (p.Glu1003Ala)
n.4155A>C
18g.45910654delCA2641629290EPG5n.2256del
c.4072del (p.Glu1358ArgfsTer?)
c.3812del (n.3812del)
n.851del
c.697del (p.Glu233ArgfsTer?)
n.4107del
c.4099del (p.Glu1367ArgfsTer?)
c.3958del (p.Glu1320ArgfsTer?)
c.3034del (p.Glu1012ArgfsTer?)
n.4172del
c.3931del (p.Glu1311ArgfsTer?)
c.3007del (p.Glu1003ArgfsTer?)
n.4154del
 gnomAD v4
18g.45910654C>ACA402340136EPG5n.2256G>T
c.4072G>T (p.Glu1358Ter)
c.3812G>T (n.3812G>T)
n.851G>T
c.697G>T (p.Glu233Ter)
n.4107G>T
c.4099G>T (p.Glu1367Ter)
c.3958G>T (p.Glu1320Ter)
c.3034G>T (p.Glu1012Ter)
n.4172G>T
c.3931G>T (p.Glu1311Ter)
c.3007G>T (p.Glu1003Ter)
n.4154G>T
 gnomAD v4
18g.45910654C=CA2300590896EPG5n.2256G=
c.4072G= (p.Glu1358=)
c.3812G= (n.3812G=)
n.851G=
c.697G= (p.Glu233=)
n.4107G=
c.4099G= (p.Glu1367=)
c.3958G= (p.Glu1320=)
c.3034G= (p.Glu1012=)
n.4172G=
c.3931G= (p.Glu1311=)
c.3007G= (p.Glu1003=)
n.4154G=
18g.45910654C>GCA8948988EPG5n.2256G>C
c.4072G>C (p.Glu1358Gln)
c.3812G>C (n.3812G>C)
n.851G>C
c.697G>C (p.Glu233Gln)
n.4107G>C
c.4099G>C (p.Glu1367Gln)
c.3958G>C (p.Glu1320Gln)
c.3034G>C (p.Glu1012Gln)
n.4172G>C
c.3931G>C (p.Glu1311Gln)
c.3007G>C (p.Glu1003Gln)
n.4154G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.45910654C>TCA249026EPG5n.2256G>A
c.4072G>A (p.Glu1358Lys)
c.3812G>A (n.3812G>A)
n.851G>A
c.697G>A (p.Glu233Lys)
n.4107G>A
c.4099G>A (p.Glu1367Lys)
c.3958G>A (p.Glu1320Lys)
c.3034G>A (p.Glu1012Lys)
n.4172G>A
c.3931G>A (p.Glu1311Lys)
c.3007G>A (p.Glu1003Lys)
n.4154G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.45910655G>ACA8948989EPG5n.2255C>T
c.4071C>T (p.Thr1357=)
c.3811C>T (n.3811C>T)
n.850C>T
c.696C>T (p.Thr232=)
n.4106C>T
c.4098C>T (p.Thr1366=)
c.3957C>T (p.Thr1319=)
c.3033C>T (p.Thr1011=)
n.4171C>T
c.3930C>T (p.Thr1310=)
c.3006C>T (p.Thr1002=)
n.4153C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.45910655G>CCA503793780EPG5n.2255C>G
c.4071C>G (p.Thr1357=)
c.3811C>G (n.3811C>G)
n.850C>G
c.696C>G (p.Thr232=)
n.4106C>G
c.4098C>G (p.Thr1366=)
c.3957C>G (p.Thr1319=)
c.3033C>G (p.Thr1011=)
n.4171C>G
c.3930C>G (p.Thr1310=)
c.3006C>G (p.Thr1002=)
n.4153C>G
18g.45910655G=CA2300590897EPG5n.2255C=
c.4071C= (p.Thr1357=)
c.3811C= (n.3811C=)
n.850C=
c.696C= (p.Thr232=)
n.4106C=
c.4098C= (p.Thr1366=)
c.3957C= (p.Thr1319=)
c.3033C= (p.Thr1011=)
n.4171C=
c.3930C= (p.Thr1310=)
c.3006C= (p.Thr1002=)
n.4153C=
18g.45910655G>TCA503793781EPG5n.2255C>A
c.4071C>A (p.Thr1357=)
c.3811C>A (n.3811C>A)
n.850C>A
c.696C>A (p.Thr232=)
n.4106C>A
c.4098C>A (p.Thr1366=)
c.3957C>A (p.Thr1319=)
c.3033C>A (p.Thr1011=)
n.4171C>A
c.3930C>A (p.Thr1310=)
c.3006C>A (p.Thr1002=)
n.4153C>A
18g.45910656G>ACA402340137EPG5n.2254C>T
c.4070C>T (p.Thr1357Ile)
c.3810C>T (n.3810C>T)
n.849C>T
c.695C>T (p.Thr232Ile)
n.4105C>T
c.4097C>T (p.Thr1366Ile)
c.3956C>T (p.Thr1319Ile)
c.3032C>T (p.Thr1011Ile)
n.4170C>T
c.3929C>T (p.Thr1310Ile)
c.3005C>T (p.Thr1002Ile)
n.4152C>T
18g.45910656G>CCA402340138EPG5n.2254C>G
c.4070C>G (p.Thr1357Ser)
c.3810C>G (n.3810C>G)
n.849C>G
c.695C>G (p.Thr232Ser)
n.4105C>G
c.4097C>G (p.Thr1366Ser)
c.3956C>G (p.Thr1319Ser)
c.3032C>G (p.Thr1011Ser)
n.4170C>G
c.3929C>G (p.Thr1310Ser)
c.3005C>G (p.Thr1002Ser)
n.4152C>G
18g.45910656G>TCA402340139EPG5n.2254C>A
c.4070C>A (p.Thr1357Asn)
c.3810C>A (n.3810C>A)
n.849C>A
c.695C>A (p.Thr232Asn)
n.4105C>A
c.4097C>A (p.Thr1366Asn)
c.3956C>A (p.Thr1319Asn)
c.3032C>A (p.Thr1011Asn)
n.4170C>A
c.3929C>A (p.Thr1310Asn)
c.3005C>A (p.Thr1002Asn)
n.4152C>A
18g.45910657T>ACA402340140EPG5n.2253A>T
c.4069A>T (p.Thr1357Ser)
c.3809A>T (n.3809A>T)
n.848A>T
c.694A>T (p.Thr232Ser)
n.4104A>T
c.4096A>T (p.Thr1366Ser)
c.3955A>T (p.Thr1319Ser)
c.3031A>T (p.Thr1011Ser)
n.4169A>T
c.3928A>T (p.Thr1310Ser)
c.3004A>T (p.Thr1002Ser)
n.4151A>T
18g.45910657T>CCA402340141EPG5n.2253A>G
c.4069A>G (p.Thr1357Ala)
c.3809A>G (n.3809A>G)
n.848A>G
c.694A>G (p.Thr232Ala)
n.4104A>G
c.4096A>G (p.Thr1366Ala)
c.3955A>G (p.Thr1319Ala)
c.3031A>G (p.Thr1011Ala)
n.4169A>G
c.3928A>G (p.Thr1310Ala)
c.3004A>G (p.Thr1002Ala)
n.4151A>G
18g.45910657T>GCA299760449EPG5n.2253A>C
c.4069A>C (p.Thr1357Pro)
c.3809A>C (n.3809A>C)
n.848A>C
c.694A>C (p.Thr232Pro)
n.4104A>C
c.4096A>C (p.Thr1366Pro)
c.3955A>C (p.Thr1319Pro)
c.3031A>C (p.Thr1011Pro)
n.4169A>C
c.3928A>C (p.Thr1310Pro)
c.3004A>C (p.Thr1002Pro)
n.4151A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.45910657T=CA2300590898EPG5n.2253A=
c.4069A= (p.Thr1357=)
c.3809A= (n.3809A=)
n.848A=
c.694A= (p.Thr232=)
n.4104A=
c.4096A= (p.Thr1366=)
c.3955A= (p.Thr1319=)
c.3031A= (p.Thr1011=)
n.4169A=
c.3928A= (p.Thr1310=)
c.3004A= (p.Thr1002=)
n.4151A=
18g.45910658C>ACA402340142EPG5n.2252G>T
c.4068G>T (p.Leu1356Phe)
c.3808G>T (n.3808G>T)
n.847G>T
c.693G>T (p.Leu231Phe)
n.4103G>T
c.4095G>T (p.Leu1365Phe)
c.3954G>T (p.Leu1318Phe)
c.3030G>T (p.Leu1010Phe)
n.4168G>T
c.3927G>T (p.Leu1309Phe)
c.3003G>T (p.Leu1001Phe)
n.4150G>T
 dbSNP gnomAD v4 COSMIC
18g.45910658C=CA2300590899EPG5n.2252G=
c.4068G= (p.Leu1356=)
c.3808G= (n.3808G=)
n.847G=
c.693G= (p.Leu231=)
n.4103G=
c.4095G= (p.Leu1365=)
c.3954G= (p.Leu1318=)
c.3030G= (p.Leu1010=)
n.4168G=
c.3927G= (p.Leu1309=)
c.3003G= (p.Leu1001=)
n.4150G=
18g.45910658C>GCA402340143EPG5n.2252G>C
c.4068G>C (p.Leu1356Phe)
c.3808G>C (n.3808G>C)
n.847G>C
c.693G>C (p.Leu231Phe)
n.4103G>C
c.4095G>C (p.Leu1365Phe)
c.3954G>C (p.Leu1318Phe)
c.3030G>C (p.Leu1010Phe)
n.4168G>C
c.3927G>C (p.Leu1309Phe)
c.3003G>C (p.Leu1001Phe)
n.4150G>C
18g.45910658C>TCA503793785EPG5n.2252G>A
c.4068G>A (p.Leu1356=)
c.3808G>A (n.3808G>A)
n.847G>A
c.693G>A (p.Leu231=)
n.4103G>A
c.4095G>A (p.Leu1365=)
c.3954G>A (p.Leu1318=)
c.3030G>A (p.Leu1010=)
n.4168G>A
c.3927G>A (p.Leu1309=)
c.3003G>A (p.Leu1001=)
n.4150G>A
 gnomAD v4
18g.45910659A>CCA402340144EPG5n.2251T>G
c.4067T>G (p.Leu1356Trp)
c.3807T>G (n.3807T>G)
n.846T>G
c.692T>G (p.Leu231Trp)
n.4102T>G
c.4094T>G (p.Leu1365Trp)
c.3953T>G (p.Leu1318Trp)
c.3029T>G (p.Leu1010Trp)
n.4167T>G
c.3926T>G (p.Leu1309Trp)
c.3002T>G (p.Leu1001Trp)
n.4149T>G
18g.45910659A>GCA402340146EPG5n.2251T>C
c.4067T>C (p.Leu1356Ser)
c.3807T>C (n.3807T>C)
n.846T>C
c.692T>C (p.Leu231Ser)
n.4102T>C
c.4094T>C (p.Leu1365Ser)
c.3953T>C (p.Leu1318Ser)
c.3029T>C (p.Leu1010Ser)
n.4167T>C
c.3926T>C (p.Leu1309Ser)
c.3002T>C (p.Leu1001Ser)
n.4149T>C
18g.45910659A>TCA402340145EPG5n.2251T>A
c.4067T>A (p.Leu1356Ter)
c.3807T>A (n.3807T>A)
n.846T>A
c.692T>A (p.Leu231Ter)
n.4102T>A
c.4094T>A (p.Leu1365Ter)
c.3953T>A (p.Leu1318Ter)
c.3029T>A (p.Leu1010Ter)
n.4167T>A
c.3926T>A (p.Leu1309Ter)
c.3002T>A (p.Leu1001Ter)
n.4149T>A
18g.45910660A=CA2300590900EPG5n.2250T=
c.4066T= (p.Leu1356=)
c.3806T= (n.3806T=)
n.845T=
c.691T= (p.Leu231=)
n.4101T=
c.4093T= (p.Leu1365=)
c.3952T= (p.Leu1318=)
c.3028T= (p.Leu1010=)
n.4166T=
c.3925T= (p.Leu1309=)
c.3001T= (p.Leu1001=)
n.4148T=
18g.45910660A>CCA402340147EPG5n.2250T>G
c.4066T>G (p.Leu1356Val)
c.3806T>G (n.3806T>G)
n.845T>G
c.691T>G (p.Leu231Val)
n.4101T>G
c.4093T>G (p.Leu1365Val)
c.3952T>G (p.Leu1318Val)
c.3028T>G (p.Leu1010Val)
n.4166T>G
c.3925T>G (p.Leu1309Val)
c.3001T>G (p.Leu1001Val)
n.4148T>G
 gnomAD v4
18g.45910660A>GCA503793788EPG5n.2250T>C
c.4066T>C (p.Leu1356=)
c.3806T>C (n.3806T>C)
n.845T>C
c.691T>C (p.Leu231=)
n.4101T>C
c.4093T>C (p.Leu1365=)
c.3952T>C (p.Leu1318=)
c.3028T>C (p.Leu1010=)
n.4166T>C
c.3925T>C (p.Leu1309=)
c.3001T>C (p.Leu1001=)
n.4148T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.45910660A>TCA402340148EPG5n.2250T>A
c.4066T>A (p.Leu1356Met)
c.3806T>A (n.3806T>A)
n.845T>A
c.691T>A (p.Leu231Met)
n.4101T>A
c.4093T>A (p.Leu1365Met)
c.3952T>A (p.Leu1318Met)
c.3028T>A (p.Leu1010Met)
n.4166T>A
c.3925T>A (p.Leu1309Met)
c.3001T>A (p.Leu1001Met)
n.4148T>A
18g.45910661A>CCA503793789EPG5n.2249T>G
c.4065T>G (p.Arg1355=)
c.3805T>G (n.3805T>G)
n.844T>G
c.690T>G (p.Arg230=)
n.4100T>G
c.4092T>G (p.Arg1364=)
c.3951T>G (p.Arg1317=)
c.3027T>G (p.Arg1009=)
n.4165T>G
c.3924T>G (p.Arg1308=)
c.3000T>G (p.Arg1000=)
n.4147T>G
18g.45910661A>GCA503793790EPG5n.2249T>C
c.4065T>C (p.Arg1355=)
c.3805T>C (n.3805T>C)
n.844T>C
c.690T>C (p.Arg230=)
n.4100T>C
c.4092T>C (p.Arg1364=)
c.3951T>C (p.Arg1317=)
c.3027T>C (p.Arg1009=)
n.4165T>C
c.3924T>C (p.Arg1308=)
c.3000T>C (p.Arg1000=)
n.4147T>C
18g.45910661A>TCA503793792EPG5n.2249T>A
c.4065T>A (p.Arg1355=)
c.3805T>A (n.3805T>A)
n.844T>A
c.690T>A (p.Arg230=)
n.4100T>A
c.4092T>A (p.Arg1364=)
c.3951T>A (p.Arg1317=)
c.3027T>A (p.Arg1009=)
n.4165T>A
c.3924T>A (p.Arg1308=)
c.3000T>A (p.Arg1000=)
n.4147T>A
18g.45910662C>ACA402340149EPG5n.2248G>T
c.4064G>T (p.Arg1355Leu)
c.3804G>T (n.3804G>T)
n.843G>T
c.689G>T (p.Arg230Leu)
n.4099G>T
c.4091G>T (p.Arg1364Leu)
c.3950G>T (p.Arg1317Leu)
c.3026G>T (p.Arg1009Leu)
n.4164G>T
c.3923G>T (p.Arg1308Leu)
c.2999G>T (p.Arg1000Leu)
n.4146G>T
18g.45910662C=CA2300590901EPG5n.2248G=
c.4064G= (p.Arg1355=)
c.3804G= (n.3804G=)
n.843G=
c.689G= (p.Arg230=)
n.4099G=
c.4091G= (p.Arg1364=)
c.3950G= (p.Arg1317=)
c.3026G= (p.Arg1009=)
n.4164G=
c.3923G= (p.Arg1308=)
c.2999G= (p.Arg1000=)
n.4146G=
18g.45910662C>GCA402340150EPG5n.2248G>C
c.4064G>C (p.Arg1355Pro)
c.3804G>C (n.3804G>C)
n.843G>C
c.689G>C (p.Arg230Pro)
n.4099G>C
c.4091G>C (p.Arg1364Pro)
c.3950G>C (p.Arg1317Pro)
c.3026G>C (p.Arg1009Pro)
n.4164G>C
c.3923G>C (p.Arg1308Pro)
c.2999G>C (p.Arg1000Pro)
n.4146G>C
18g.45910662C>TCA8948990EPG5n.2248G>A
c.4064G>A (p.Arg1355His)
c.3804G>A (n.3804G>A)
n.843G>A
c.689G>A (p.Arg230His)
n.4099G>A
c.4091G>A (p.Arg1364His)
c.3950G>A (p.Arg1317His)
c.3026G>A (p.Arg1009His)
n.4164G>A
c.3923G>A (p.Arg1308His)
c.2999G>A (p.Arg1000His)
n.4146G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.45910663G>ACA402340151EPG5n.2247C>T
c.4063C>T (p.Arg1355Cys)
c.3803C>T (n.3803C>T)
n.842C>T
c.688C>T (p.Arg230Cys)
n.4098C>T
c.4090C>T (p.Arg1364Cys)
c.3949C>T (p.Arg1317Cys)
c.3025C>T (p.Arg1009Cys)
n.4163C>T
c.3922C>T (p.Arg1308Cys)
c.2998C>T (p.Arg1000Cys)
n.4145C>T
 gnomAD v4 COSMIC
18g.45910663G>CCA402340152EPG5n.2247C>G
c.4063C>G (p.Arg1355Gly)
c.3803C>G (n.3803C>G)
n.842C>G
c.688C>G (p.Arg230Gly)
n.4098C>G
c.4090C>G (p.Arg1364Gly)
c.3949C>G (p.Arg1317Gly)
c.3025C>G (p.Arg1009Gly)
n.4163C>G
c.3922C>G (p.Arg1308Gly)
c.2998C>G (p.Arg1000Gly)
n.4145C>G
 gnomAD v4
18g.45910663G>TCA402340153EPG5n.2247C>A
c.4063C>A (p.Arg1355Ser)
c.3803C>A (n.3803C>A)
n.842C>A
c.688C>A (p.Arg230Ser)
n.4098C>A
c.4090C>A (p.Arg1364Ser)
c.3949C>A (p.Arg1317Ser)
c.3025C>A (p.Arg1009Ser)
n.4163C>A
c.3922C>A (p.Arg1308Ser)
c.2998C>A (p.Arg1000Ser)
n.4145C>A
18g.45910664T>ACA402340154EPG5n.2246A>T
c.4062A>T (p.Arg1354Ser)
c.3802A>T (n.3802A>T)
n.841A>T
c.687A>T (p.Arg229Ser)
n.4097A>T
c.4089A>T (p.Arg1363Ser)
c.3948A>T (p.Arg1316Ser)
c.3024A>T (p.Arg1008Ser)
n.4162A>T
c.3921A>T (p.Arg1307Ser)
c.2997A>T (p.Arg999Ser)
n.4144A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.45910664T>CCA8948991EPG5n.2246A>G
c.4062A>G (p.Arg1354=)
c.3802A>G (n.3802A>G)
n.841A>G
c.687A>G (p.Arg229=)
n.4097A>G
c.4089A>G (p.Arg1363=)
c.3948A>G (p.Arg1316=)
c.3024A>G (p.Arg1008=)
n.4162A>G
c.3921A>G (p.Arg1307=)
c.2997A>G (p.Arg999=)
n.4144A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910664T>GCA402340155EPG5n.2246A>C
c.4062A>C (p.Arg1354Ser)
c.3802A>C (n.3802A>C)
n.841A>C
c.687A>C (p.Arg229Ser)
n.4097A>C
c.4089A>C (p.Arg1363Ser)
c.3948A>C (p.Arg1316Ser)
c.3024A>C (p.Arg1008Ser)
n.4162A>C
c.3921A>C (p.Arg1307Ser)
c.2997A>C (p.Arg999Ser)
n.4144A>C
18g.45910664T=CA2300590902EPG5n.2246A=
c.4062A= (p.Arg1354=)
c.3802A= (n.3802A=)
n.841A=
c.687A= (p.Arg229=)
n.4097A=
c.4089A= (p.Arg1363=)
c.3948A= (p.Arg1316=)
c.3024A= (p.Arg1008=)
n.4162A=
c.3921A= (p.Arg1307=)
c.2997A= (p.Arg999=)
n.4144A=
18g.45910665C>ACA402340158EPG5n.2245G>T
c.4061G>T (p.Arg1354Ile)
c.3801G>T (n.3801G>T)
n.840G>T
c.686G>T (p.Arg229Ile)
n.4096G>T
c.4088G>T (p.Arg1363Ile)
c.3947G>T (p.Arg1316Ile)
c.3023G>T (p.Arg1008Ile)
n.4161G>T
c.3920G>T (p.Arg1307Ile)
c.2996G>T (p.Arg999Ile)
n.4143G>T
18g.45910665C>GCA402340157EPG5n.2245G>C
c.4061G>C (p.Arg1354Thr)
c.3801G>C (n.3801G>C)
n.840G>C
c.686G>C (p.Arg229Thr)
n.4096G>C
c.4088G>C (p.Arg1363Thr)
c.3947G>C (p.Arg1316Thr)
c.3023G>C (p.Arg1008Thr)
n.4161G>C
c.3920G>C (p.Arg1307Thr)
c.2996G>C (p.Arg999Thr)
n.4143G>C
 gnomAD v4
18g.45910665C>TCA402340156EPG5n.2245G>A
c.4061G>A (p.Arg1354Lys)
c.3801G>A (n.3801G>A)
n.840G>A
c.686G>A (p.Arg229Lys)
n.4096G>A
c.4088G>A (p.Arg1363Lys)
c.3947G>A (p.Arg1316Lys)
c.3023G>A (p.Arg1008Lys)
n.4161G>A
c.3920G>A (p.Arg1307Lys)
c.2996G>A (p.Arg999Lys)
n.4143G>A
18g.45910666T>ACA402340159EPG5n.2244A>T
c.4060A>T (p.Arg1354Ter)
c.3800A>T (n.3800A>T)
n.839A>T
c.685A>T (p.Arg229Ter)
n.4095A>T
c.4087A>T (p.Arg1363Ter)
c.3946A>T (p.Arg1316Ter)
c.3022A>T (p.Arg1008Ter)
n.4160A>T
c.3919A>T (p.Arg1307Ter)
c.2995A>T (p.Arg999Ter)
n.4142A>T
18g.45910666T>CCA402340160EPG5n.2244A>G
c.4060A>G (p.Arg1354Gly)
c.3800A>G (n.3800A>G)
n.839A>G
c.685A>G (p.Arg229Gly)
n.4095A>G
c.4087A>G (p.Arg1363Gly)
c.3946A>G (p.Arg1316Gly)
c.3022A>G (p.Arg1008Gly)
n.4160A>G
c.3919A>G (p.Arg1307Gly)
c.2995A>G (p.Arg999Gly)
n.4142A>G
 gnomAD v4
18g.45910666T>GCA503793795EPG5n.2244A>C
c.4060A>C (p.Arg1354=)
c.3800A>C (n.3800A>C)
n.839A>C
c.685A>C (p.Arg229=)
n.4095A>C
c.4087A>C (p.Arg1363=)
c.3946A>C (p.Arg1316=)
c.3022A>C (p.Arg1008=)
n.4160A>C
c.3919A>C (p.Arg1307=)
c.2995A>C (p.Arg999=)
n.4142A>C
18g.45910667C>ACA402340161EPG5n.2243G>T
c.4059G>T (p.Lys1353Asn)
c.3799G>T (n.3799G>T)
n.838G>T
c.684G>T (p.Lys228Asn)
n.4094G>T
c.4086G>T (p.Lys1362Asn)
c.3945G>T (p.Lys1315Asn)
c.3021G>T (p.Lys1007Asn)
n.4159G>T
c.3918G>T (p.Lys1306Asn)
c.2994G>T (p.Lys998Asn)
n.4141G>T
18g.45910667C>GCA402340162EPG5n.2243G>C
c.4059G>C (p.Lys1353Asn)
c.3799G>C (n.3799G>C)
n.838G>C
c.684G>C (p.Lys228Asn)
n.4094G>C
c.4086G>C (p.Lys1362Asn)
c.3945G>C (p.Lys1315Asn)
c.3021G>C (p.Lys1007Asn)
n.4159G>C
c.3918G>C (p.Lys1306Asn)
c.2994G>C (p.Lys998Asn)
n.4141G>C
18g.45910667C>TCA503793798EPG5n.2243G>A
c.4059G>A (p.Lys1353=)
c.3799G>A (n.3799G>A)
n.838G>A
c.684G>A (p.Lys228=)
n.4094G>A
c.4086G>A (p.Lys1362=)
c.3945G>A (p.Lys1315=)
c.3021G>A (p.Lys1007=)
n.4159G>A
c.3918G>A (p.Lys1306=)
c.2994G>A (p.Lys998=)
n.4141G>A
18g.45910668T>ACA402340163EPG5n.2242A>T
c.4058A>T (p.Lys1353Met)
c.3798A>T (n.3798A>T)
n.837A>T
c.683A>T (p.Lys228Met)
n.4093A>T
c.4085A>T (p.Lys1362Met)
c.3944A>T (p.Lys1315Met)
c.3020A>T (p.Lys1007Met)
n.4158A>T
c.3917A>T (p.Lys1306Met)
c.2993A>T (p.Lys998Met)
n.4140A>T
18g.45910668T>CCA8948992EPG5n.2242A>G
c.4058A>G (p.Lys1353Arg)
c.3798A>G (n.3798A>G)
n.837A>G
c.683A>G (p.Lys228Arg)
n.4093A>G
c.4085A>G (p.Lys1362Arg)
c.3944A>G (p.Lys1315Arg)
c.3020A>G (p.Lys1007Arg)
n.4158A>G
c.3917A>G (p.Lys1306Arg)
c.2993A>G (p.Lys998Arg)
n.4140A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.45910668T>GCA402340164EPG5n.2242A>C
c.4058A>C (p.Lys1353Thr)
c.3798A>C (n.3798A>C)
n.837A>C
c.683A>C (p.Lys228Thr)
n.4093A>C
c.4085A>C (p.Lys1362Thr)
c.3944A>C (p.Lys1315Thr)
c.3020A>C (p.Lys1007Thr)
n.4158A>C
c.3917A>C (p.Lys1306Thr)
c.2993A>C (p.Lys998Thr)
n.4140A>C
 gnomAD v4
18g.45910668T=CA2300590903EPG5n.2242A=
c.4058A= (p.Lys1353=)
c.3798A= (n.3798A=)
n.837A=
c.683A= (p.Lys228=)
n.4093A=
c.4085A= (p.Lys1362=)
c.3944A= (p.Lys1315=)
c.3020A= (p.Lys1007=)
n.4158A=
c.3917A= (p.Lys1306=)
c.2993A= (p.Lys998=)
n.4140A=
18g.45910669T>ACA402340165EPG5n.2241A>T
c.4057A>T (p.Lys1353Ter)
c.3797A>T (n.3797A>T)
n.836A>T
c.682A>T (p.Lys228Ter)
n.4092A>T
c.4084A>T (p.Lys1362Ter)
c.3943A>T (p.Lys1315Ter)
c.3019A>T (p.Lys1007Ter)
n.4157A>T
c.3916A>T (p.Lys1306Ter)
c.2992A>T (p.Lys998Ter)
n.4139A>T
18g.45910669T>CCA402340166EPG5n.2241A>G
c.4057A>G (p.Lys1353Glu)
c.3797A>G (n.3797A>G)
n.836A>G
c.682A>G (p.Lys228Glu)
n.4092A>G
c.4084A>G (p.Lys1362Glu)
c.3943A>G (p.Lys1315Glu)
c.3019A>G (p.Lys1007Glu)
n.4157A>G
c.3916A>G (p.Lys1306Glu)
c.2992A>G (p.Lys998Glu)
n.4139A>G
18g.45910669T>GCA402340167EPG5n.2241A>C
c.4057A>C (p.Lys1353Gln)
c.3797A>C (n.3797A>C)
n.836A>C
c.682A>C (p.Lys228Gln)
n.4092A>C
c.4084A>C (p.Lys1362Gln)
c.3943A>C (p.Lys1315Gln)
c.3019A>C (p.Lys1007Gln)
n.4157A>C
c.3916A>C (p.Lys1306Gln)
c.2992A>C (p.Lys998Gln)
n.4139A>C
 gnomAD v4
18g.45910670C>ACA402340168EPG5n.2240G>T
c.4056G>T (p.Met1352Ile)
c.3796G>T (n.3796G>T)
n.835G>T
c.681G>T (p.Met227Ile)
n.4091G>T
c.4083G>T (p.Met1361Ile)
c.3942G>T (p.Met1314Ile)
c.3018G>T (p.Met1006Ile)
n.4156G>T
c.3915G>T (p.Met1305Ile)
c.2991G>T (p.Met997Ile)
n.4138G>T
 gnomAD v4
18g.45910670C>GCA402340169EPG5n.2240G>C
c.4056G>C (p.Met1352Ile)
c.3796G>C (n.3796G>C)
n.835G>C
c.681G>C (p.Met227Ile)
n.4091G>C
c.4083G>C (p.Met1361Ile)
c.3942G>C (p.Met1314Ile)
c.3018G>C (p.Met1006Ile)
n.4156G>C
c.3915G>C (p.Met1305Ile)
c.2991G>C (p.Met997Ile)
n.4138G>C
18g.45910670C>TCA402340170EPG5n.2240G>A
c.4056G>A (p.Met1352Ile)
c.3796G>A (n.3796G>A)
n.835G>A
c.681G>A (p.Met227Ile)
n.4091G>A
c.4083G>A (p.Met1361Ile)
c.3942G>A (p.Met1314Ile)
c.3018G>A (p.Met1006Ile)
n.4156G>A
c.3915G>A (p.Met1305Ile)
c.2991G>A (p.Met997Ile)
n.4138G>A
 gnomAD v4
18g.45910671A=CA2300590904EPG5n.2239T=
c.4055T= (p.Met1352=)
c.3795T= (n.3795T=)
n.834T=
c.680T= (p.Met227=)
n.4090T=
c.4082T= (p.Met1361=)
c.3941T= (p.Met1314=)
c.3017T= (p.Met1006=)
n.4155T=
c.3914T= (p.Met1305=)
c.2990T= (p.Met997=)
n.4137T=
18g.45910671A>CCA402340172EPG5n.2239T>G
c.4055T>G (p.Met1352Arg)
c.3795T>G (n.3795T>G)
n.834T>G
c.680T>G (p.Met227Arg)
n.4090T>G
c.4082T>G (p.Met1361Arg)
c.3941T>G (p.Met1314Arg)
c.3017T>G (p.Met1006Arg)
n.4155T>G
c.3914T>G (p.Met1305Arg)
c.2990T>G (p.Met997Arg)
n.4137T>G
18g.45910671A>GCA402340173EPG5n.2239T>C
c.4055T>C (p.Met1352Thr)
c.3795T>C (n.3795T>C)
n.834T>C
c.680T>C (p.Met227Thr)
n.4090T>C
c.4082T>C (p.Met1361Thr)
c.3941T>C (p.Met1314Thr)
c.3017T>C (p.Met1006Thr)
n.4155T>C
c.3914T>C (p.Met1305Thr)
c.2990T>C (p.Met997Thr)
n.4137T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.45910671A>TCA402340171EPG5n.2239T>A
c.4055T>A (p.Met1352Lys)
c.3795T>A (n.3795T>A)
n.834T>A
c.680T>A (p.Met227Lys)
n.4090T>A
c.4082T>A (p.Met1361Lys)
c.3941T>A (p.Met1314Lys)
c.3017T>A (p.Met1006Lys)
n.4155T>A
c.3914T>A (p.Met1305Lys)
c.2990T>A (p.Met997Lys)
n.4137T>A
18g.45910672T>ACA402340174EPG5n.2238A>T
c.4054A>T (p.Met1352Leu)
c.3794A>T (n.3794A>T)
n.833A>T
c.679A>T (p.Met227Leu)
n.4089A>T
c.4081A>T (p.Met1361Leu)
c.3940A>T (p.Met1314Leu)
c.3016A>T (p.Met1006Leu)
n.4154A>T
c.3913A>T (p.Met1305Leu)
c.2989A>T (p.Met997Leu)
n.4136A>T
18g.45910672T>CCA402340176EPG5n.2238A>G
c.4054A>G (p.Met1352Val)
c.3794A>G (n.3794A>G)
n.833A>G
c.679A>G (p.Met227Val)
n.4089A>G
c.4081A>G (p.Met1361Val)
c.3940A>G (p.Met1314Val)
c.3016A>G (p.Met1006Val)
n.4154A>G
c.3913A>G (p.Met1305Val)
c.2989A>G (p.Met997Val)
n.4136A>G
 dbSNP gnomAD v3 gnomAD v4
18g.45910672T>GCA402340175EPG5n.2238A>C
c.4054A>C (p.Met1352Leu)
c.3794A>C (n.3794A>C)
n.833A>C
c.679A>C (p.Met227Leu)
n.4089A>C
c.4081A>C (p.Met1361Leu)
c.3940A>C (p.Met1314Leu)
c.3016A>C (p.Met1006Leu)
n.4154A>C
c.3913A>C (p.Met1305Leu)
c.2989A>C (p.Met997Leu)
n.4136A>C
18g.45910672T=CA2300590905EPG5n.2238A=
c.4054A= (p.Met1352=)
c.3794A= (n.3794A=)
n.833A=
c.679A= (p.Met227=)
n.4089A=
c.4081A= (p.Met1361=)
c.3940A= (p.Met1314=)
c.3016A= (p.Met1006=)
n.4154A=
c.3913A= (p.Met1305=)
c.2989A= (p.Met997=)
n.4136A=
18g.45910673T>ACA402340177EPG5n.2237A>T
c.4053A>T (p.Glu1351Asp)
c.3793A>T (n.3793A>T)
n.832A>T
c.678A>T (p.Glu226Asp)
n.4088A>T
c.4080A>T (p.Glu1360Asp)
c.3939A>T (p.Glu1313Asp)
c.3015A>T (p.Glu1005Asp)
n.4153A>T
c.3912A>T (p.Glu1304Asp)
c.2988A>T (p.Glu996Asp)
n.4135A>T
18g.45910673T>CCA503793804EPG5n.2237A>G
c.4053A>G (p.Glu1351=)
c.3793A>G (n.3793A>G)
n.832A>G
c.678A>G (p.Glu226=)
n.4088A>G
c.4080A>G (p.Glu1360=)
c.3939A>G (p.Glu1313=)
c.3015A>G (p.Glu1005=)
n.4153A>G
c.3912A>G (p.Glu1304=)
c.2988A>G (p.Glu996=)
n.4135A>G
 dbSNP gnomAD v3 gnomAD v4
18g.45910673T>GCA402340178EPG5n.2237A>C
c.4053A>C (p.Glu1351Asp)
c.3793A>C (n.3793A>C)
n.832A>C
c.678A>C (p.Glu226Asp)
n.4088A>C
c.4080A>C (p.Glu1360Asp)
c.3939A>C (p.Glu1313Asp)
c.3015A>C (p.Glu1005Asp)
n.4153A>C
c.3912A>C (p.Glu1304Asp)
c.2988A>C (p.Glu996Asp)
n.4135A>C
18g.45910673T=CA2300590906EPG5n.2237A=
c.4053A= (p.Glu1351=)
c.3793A= (n.3793A=)
n.832A=
c.678A= (p.Glu226=)
n.4088A=
c.4080A= (p.Glu1360=)
c.3939A= (p.Glu1313=)
c.3015A= (p.Glu1005=)
n.4153A=
c.3912A= (p.Glu1304=)
c.2988A= (p.Glu996=)
n.4135A=
18g.45910674T>ACA402340179EPG5n.2236A>T
c.4052A>T (p.Glu1351Val)
c.3792A>T (n.3792A>T)
n.831A>T
c.677A>T (p.Glu226Val)
n.4087A>T
c.4079A>T (p.Glu1360Val)
c.3938A>T (p.Glu1313Val)
c.3014A>T (p.Glu1005Val)
n.4152A>T
c.3911A>T (p.Glu1304Val)
c.2987A>T (p.Glu996Val)
n.4134A>T
18g.45910674T>CCA402340180EPG5n.2236A>G
c.4052A>G (p.Glu1351Gly)
c.3792A>G (n.3792A>G)
n.831A>G
c.677A>G (p.Glu226Gly)
n.4087A>G
c.4079A>G (p.Glu1360Gly)
c.3938A>G (p.Glu1313Gly)
c.3014A>G (p.Glu1005Gly)
n.4152A>G
c.3911A>G (p.Glu1304Gly)
c.2987A>G (p.Glu996Gly)
n.4134A>G
18g.45910674T>GCA402340181EPG5n.2236A>C
c.4052A>C (p.Glu1351Ala)
c.3792A>C (n.3792A>C)
n.831A>C
c.677A>C (p.Glu226Ala)
n.4087A>C
c.4079A>C (p.Glu1360Ala)
c.3938A>C (p.Glu1313Ala)
c.3014A>C (p.Glu1005Ala)
n.4152A>C
c.3911A>C (p.Glu1304Ala)
c.2987A>C (p.Glu996Ala)
n.4134A>C

Number of alleles fetched