Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.137638991T>ACA361047879KLHL3c.1181A>T (p.Asp394Val)
n.768A>T
c.*335-10554A>T (n.*335-10554A>T)
c.1061A>T (p.Asp354Val)
c.935A>T (p.Asp312Val)
n.806A>T
c.1085A>T (p.Asp362Val)
5g.137638991T>CCA3422278KLHL3c.1181A>G (p.Asp394Gly)
n.768A>G
c.*335-10554A>G (n.*335-10554A>G)
c.1061A>G (p.Asp354Gly)
c.935A>G (p.Asp312Gly)
n.806A>G
c.1085A>G (p.Asp362Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137638991T>GCA361047878KLHL3c.1181A>C (p.Asp394Ala)
n.768A>C
c.*335-10554A>C (n.*335-10554A>C)
c.1061A>C (p.Asp354Ala)
c.935A>C (p.Asp312Ala)
n.806A>C
c.1085A>C (p.Asp362Ala)
5g.137638991T=CA1585497498KLHL3c.1181A= (p.Asp394=)
n.768A=
c.*335-10554A= (n.*335-10554A=)
c.1061A= (p.Asp354=)
c.935A= (p.Asp312=)
n.806A=
c.1085A= (p.Asp362=)
5g.137638992C>ACA361047880KLHL3c.1180G>T (p.Asp394Tyr)
n.767G>T
c.*335-10555G>T (n.*335-10555G>T)
c.1060G>T (p.Asp354Tyr)
c.934G>T (p.Asp312Tyr)
n.805G>T
c.1084G>T (p.Asp362Tyr)
5g.137638992C>GCA361047881KLHL3c.1180G>C (p.Asp394His)
n.767G>C
c.*335-10555G>C (n.*335-10555G>C)
c.1060G>C (p.Asp354His)
c.934G>C (p.Asp312His)
n.805G>C
c.1084G>C (p.Asp362His)
5g.137638992C>TCA361047882KLHL3c.1180G>A (p.Asp394Asn)
n.767G>A
c.*335-10555G>A (n.*335-10555G>A)
c.1060G>A (p.Asp354Asn)
c.934G>A (p.Asp312Asn)
n.805G>A
c.1084G>A (p.Asp362Asn)
5g.137638993A=CA1585497507KLHL3c.1179T= (p.Asn393=)
n.766T=
c.*335-10556T= (n.*335-10556T=)
c.1059T= (p.Asn353=)
c.933T= (p.Asn311=)
n.804T=
c.1083T= (p.Asn361=)
5g.137638993A>CCA361047883KLHL3c.1179T>G (p.Asn393Lys)
n.766T>G
c.*335-10556T>G (n.*335-10556T>G)
c.1059T>G (p.Asn353Lys)
c.933T>G (p.Asn311Lys)
n.804T>G
c.1083T>G (p.Asn361Lys)
5g.137638993A>GCA3422279KLHL3c.1179T>C (p.Asn393=)
n.766T>C
c.*335-10556T>C (n.*335-10556T>C)
c.1059T>C (p.Asn353=)
c.933T>C (p.Asn311=)
n.804T>C
c.1083T>C (p.Asn361=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137638993A>TCA361047884KLHL3c.1179T>A (p.Asn393Lys)
n.766T>A
c.*335-10556T>A (n.*335-10556T>A)
c.1059T>A (p.Asn353Lys)
c.933T>A (p.Asn311Lys)
n.804T>A
c.1083T>A (p.Asn361Lys)
5g.137638994T>ACA361047885KLHL3c.1178A>T (p.Asn393Ile)
n.765A>T
c.*335-10557A>T (n.*335-10557A>T)
c.1058A>T (p.Asn353Ile)
c.932A>T (p.Asn311Ile)
n.803A>T
c.1082A>T (p.Asn361Ile)
5g.137638994T>CCA3422280KLHL3c.1178A>G (p.Asn393Ser)
n.765A>G
c.*335-10557A>G (n.*335-10557A>G)
c.1058A>G (p.Asn353Ser)
c.932A>G (p.Asn311Ser)
n.803A>G
c.1082A>G (p.Asn361Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137638994T>GCA361047886KLHL3c.1178A>C (p.Asn393Thr)
n.765A>C
c.*335-10557A>C (n.*335-10557A>C)
c.1058A>C (p.Asn353Thr)
c.932A>C (p.Asn311Thr)
n.803A>C
c.1082A>C (p.Asn361Thr)
5g.137638994T=CA1585497511KLHL3c.1178A= (p.Asn393=)
n.765A=
c.*335-10557A= (n.*335-10557A=)
c.1058A= (p.Asn353=)
c.932A= (p.Asn311=)
n.803A=
c.1082A= (p.Asn361=)
5g.137638995T>ACA361047887KLHL3c.1177A>T (p.Asn393Tyr)
n.764A>T
c.*335-10558A>T (n.*335-10558A>T)
c.1057A>T (p.Asn353Tyr)
c.931A>T (p.Asn311Tyr)
n.802A>T
c.1081A>T (p.Asn361Tyr)
 dbSNP gnomAD v3 gnomAD v4
5g.137638995T>CCA361047888KLHL3c.1177A>G (p.Asn393Asp)
n.764A>G
c.*335-10558A>G (n.*335-10558A>G)
c.1057A>G (p.Asn353Asp)
c.931A>G (p.Asn311Asp)
n.802A>G
c.1081A>G (p.Asn361Asp)
5g.137638995T>GCA361047889KLHL3c.1177A>C (p.Asn393His)
n.764A>C
c.*335-10558A>C (n.*335-10558A>C)
c.1057A>C (p.Asn353His)
c.931A>C (p.Asn311His)
n.802A>C
c.1081A>C (p.Asn361His)
5g.137638995T=CA1585497515KLHL3c.1177A= (p.Asn393=)
n.764A=
c.*335-10558A= (n.*335-10558A=)
c.1057A= (p.Asn353=)
c.931A= (p.Asn311=)
n.802A=
c.1081A= (p.Asn361=)
5g.137638996G>ACA446560984KLHL3c.1176C>T (p.Leu392=)
n.763C>T
c.*335-10559C>T (n.*335-10559C>T)
c.1056C>T (p.Leu352=)
c.930C>T (p.Leu310=)
n.801C>T
c.1080C>T (p.Leu360=)
 COSMIC
5g.137638996G>CCA446560985KLHL3c.1176C>G (p.Leu392=)
n.763C>G
c.*335-10559C>G (n.*335-10559C>G)
c.1056C>G (p.Leu352=)
c.930C>G (p.Leu310=)
n.801C>G
c.1080C>G (p.Leu360=)
5g.137638996G>TCA446560986KLHL3c.1176C>A (p.Leu392=)
n.763C>A
c.*335-10559C>A (n.*335-10559C>A)
c.1056C>A (p.Leu352=)
c.930C>A (p.Leu310=)
n.801C>A
c.1080C>A (p.Leu360=)
5g.137638997A>CCA361047890KLHL3c.1175T>G (p.Leu392Arg)
n.762T>G
c.*335-10560T>G (n.*335-10560T>G)
c.1055T>G (p.Leu352Arg)
c.929T>G (p.Leu310Arg)
n.800T>G
c.1079T>G (p.Leu360Arg)
5g.137638997A>GCA361047892KLHL3c.1175T>C (p.Leu392Pro)
n.762T>C
c.*335-10560T>C (n.*335-10560T>C)
c.1055T>C (p.Leu352Pro)
c.929T>C (p.Leu310Pro)
n.800T>C
c.1079T>C (p.Leu360Pro)
5g.137638997A>TCA361047891KLHL3c.1175T>A (p.Leu392His)
n.762T>A
c.*335-10560T>A (n.*335-10560T>A)
c.1055T>A (p.Leu352His)
c.929T>A (p.Leu310His)
n.800T>A
c.1079T>A (p.Leu360His)
5g.137638998G>ACA361047893KLHL3c.1174C>T (p.Leu392Phe)
n.761C>T
c.*335-10561C>T (n.*335-10561C>T)
c.1054C>T (p.Leu352Phe)
c.928C>T (p.Leu310Phe)
n.799C>T
c.1078C>T (p.Leu360Phe)
5g.137638998G>CCA361047895KLHL3c.1174C>G (p.Leu392Val)
n.761C>G
c.*335-10561C>G (n.*335-10561C>G)
c.1054C>G (p.Leu352Val)
c.928C>G (p.Leu310Val)
n.799C>G
c.1078C>G (p.Leu360Val)
5g.137638998G>TCA361047894KLHL3c.1174C>A (p.Leu392Ile)
n.761C>A
c.*335-10561C>A (n.*335-10561C>A)
c.1054C>A (p.Leu352Ile)
c.928C>A (p.Leu310Ile)
n.799C>A
c.1078C>A (p.Leu360Ile)
5g.137638999C>ACA446560987KLHL3c.1173G>T (p.Val391=)
n.760G>T
c.*335-10562G>T (n.*335-10562G>T)
c.1053G>T (p.Val351=)
c.927G>T (p.Val309=)
n.798G>T
c.1077G>T (p.Val359=)
5g.137638999C>GCA446560988KLHL3c.1173G>C (p.Val391=)
n.760G>C
c.*335-10562G>C (n.*335-10562G>C)
c.1053G>C (p.Val351=)
c.927G>C (p.Val309=)
n.798G>C
c.1077G>C (p.Val359=)
5g.137638999C>TCA446560989KLHL3c.1173G>A (p.Val391=)
n.760G>A
c.*335-10562G>A (n.*335-10562G>A)
c.1053G>A (p.Val351=)
c.927G>A (p.Val309=)
n.798G>A
c.1077G>A (p.Val359=)
5g.137639000A=CA1585497518KLHL3c.1172T= (p.Val391=)
n.759T=
c.*335-10563T= (n.*335-10563T=)
c.1052T= (p.Val351=)
c.926T= (p.Val309=)
n.797T=
c.1076T= (p.Val359=)
5g.137639000A>CCA361047896KLHL3c.1172T>G (p.Val391Gly)
n.759T>G
c.*335-10563T>G (n.*335-10563T>G)
c.1052T>G (p.Val351Gly)
c.926T>G (p.Val309Gly)
n.797T>G
c.1076T>G (p.Val359Gly)
5g.137639000A>GCA361047898KLHL3c.1172T>C (p.Val391Ala)
n.759T>C
c.*335-10563T>C (n.*335-10563T>C)
c.1052T>C (p.Val351Ala)
c.926T>C (p.Val309Ala)
n.797T>C
c.1076T>C (p.Val359Ala)
 dbSNP
5g.137639000A>TCA361047897KLHL3c.1172T>A (p.Val391Glu)
n.759T>A
c.*335-10563T>A (n.*335-10563T>A)
c.1052T>A (p.Val351Glu)
c.926T>A (p.Val309Glu)
n.797T>A
c.1076T>A (p.Val359Glu)
 gnomAD v4
5g.137639001C>ACA361047899KLHL3c.1171G>T (p.Val391Leu)
n.758G>T
c.*335-10564G>T (n.*335-10564G>T)
c.1051G>T (p.Val351Leu)
c.925G>T (p.Val309Leu)
n.796G>T
c.1075G>T (p.Val359Leu)
 gnomAD v4
5g.137639001C>GCA361047901KLHL3c.1171G>C (p.Val391Leu)
n.758G>C
c.*335-10564G>C (n.*335-10564G>C)
c.1051G>C (p.Val351Leu)
c.925G>C (p.Val309Leu)
n.796G>C
c.1075G>C (p.Val359Leu)
5g.137639001C>TCA361047900KLHL3c.1171G>A (p.Val391Met)
n.758G>A
c.*335-10564G>A (n.*335-10564G>A)
c.1051G>A (p.Val351Met)
c.925G>A (p.Val309Met)
n.796G>A
c.1075G>A (p.Val359Met)
5g.137639001_137639002delinsTTCA645560142KLHL3c.1170_1171delinsAA (p.Val391Met)
n.757_758delinsAA
c.*335-10565_*335-10564delinsAA (n.*335-10565_*335-10564delinsAA)
c.1050_1051delinsAA (p.Val351Met)
c.924_925delinsAA (p.Val309Met)
n.795_796delinsAA
c.1074_1075delinsAA (p.Val359Met)
 COSMIC
5g.137639002C>ACA446560991KLHL3c.1170G>T (p.Ala390=)
n.757G>T
c.*335-10565G>T (n.*335-10565G>T)
c.1050G>T (p.Ala350=)
c.924G>T (p.Ala308=)
n.795G>T
c.1074G>T (p.Ala358=)
 ClinVar
5g.137639002C=CA1585497521KLHL3c.1170G= (p.Ala390=)
n.757G=
c.*335-10565G= (n.*335-10565G=)
c.1050G= (p.Ala350=)
c.924G= (p.Ala308=)
n.795G=
c.1074G= (p.Ala358=)
5g.137639002C>GCA446560993KLHL3c.1170G>C (p.Ala390=)
n.757G>C
c.*335-10565G>C (n.*335-10565G>C)
c.1050G>C (p.Ala350=)
c.924G>C (p.Ala308=)
n.795G>C
c.1074G>C (p.Ala358=)
5g.137639002C>TCA3422281KLHL3c.1170G>A (p.Ala390=)
n.757G>A
c.*335-10565G>A (n.*335-10565G>A)
c.1050G>A (p.Ala350=)
c.924G>A (p.Ala308=)
n.795G>A
c.1074G>A (p.Ala358=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639003G>ACA361047903KLHL3c.1169C>T (p.Ala390Val)
n.756C>T
c.*335-10566C>T (n.*335-10566C>T)
c.1049C>T (p.Ala350Val)
c.923C>T (p.Ala308Val)
n.794C>T
c.1073C>T (p.Ala358Val)
 dbSNP gnomAD v3 gnomAD v4
5g.137639003G>CCA361047902KLHL3c.1169C>G (p.Ala390Gly)
n.756C>G
c.*335-10566C>G (n.*335-10566C>G)
c.1049C>G (p.Ala350Gly)
c.923C>G (p.Ala308Gly)
n.794C>G
c.1073C>G (p.Ala358Gly)
5g.137639003G=CA1585497524KLHL3c.1169C= (p.Ala390=)
n.756C=
c.*335-10566C= (n.*335-10566C=)
c.1049C= (p.Ala350=)
c.923C= (p.Ala308=)
n.794C=
c.1073C= (p.Ala358=)
5g.137639003G>TCA361047904KLHL3c.1169C>A (p.Ala390Glu)
n.756C>A
c.*335-10566C>A (n.*335-10566C>A)
c.1049C>A (p.Ala350Glu)
c.923C>A (p.Ala308Glu)
n.794C>A
c.1073C>A (p.Ala358Glu)
5g.137639004C>ACA361047905KLHL3c.1168G>T (p.Ala390Ser)
n.755G>T
c.*335-10567G>T (n.*335-10567G>T)
c.1048G>T (p.Ala350Ser)
c.922G>T (p.Ala308Ser)
n.793G>T
c.1072G>T (p.Ala358Ser)
5g.137639004C>GCA361047907KLHL3c.1168G>C (p.Ala390Pro)
n.755G>C
c.*335-10567G>C (n.*335-10567G>C)
c.1048G>C (p.Ala350Pro)
c.922G>C (p.Ala308Pro)
n.793G>C
c.1072G>C (p.Ala358Pro)
5g.137639004C>TCA361047906KLHL3c.1168G>A (p.Ala390Thr)
n.755G>A
c.*335-10567G>A (n.*335-10567G>A)
c.1048G>A (p.Ala350Thr)
c.922G>A (p.Ala308Thr)
n.793G>A
c.1072G>A (p.Ala358Thr)
 gnomAD v4 COSMIC
5g.137639005T>ACA446560998KLHL3c.1167A>T (p.Ala389=)
n.754A>T
c.*335-10568A>T (n.*335-10568A>T)
c.1047A>T (p.Ala349=)
c.921A>T (p.Ala307=)
n.792A>T
c.1071A>T (p.Ala357=)
5g.137639005T>CCA446560999KLHL3c.1167A>G (p.Ala389=)
n.754A>G
c.*335-10568A>G (n.*335-10568A>G)
c.1047A>G (p.Ala349=)
c.921A>G (p.Ala307=)
n.792A>G
c.1071A>G (p.Ala357=)
5g.137639005T>GCA446560997KLHL3c.1167A>C (p.Ala389=)
n.754A>C
c.*335-10568A>C (n.*335-10568A>C)
c.1047A>C (p.Ala349=)
c.921A>C (p.Ala307=)
n.792A>C
c.1071A>C (p.Ala357=)
5g.137639006G>ACA361047908KLHL3c.1166C>T (p.Ala389Val)
n.753C>T
c.*335-10569C>T (n.*335-10569C>T)
c.1046C>T (p.Ala349Val)
c.920C>T (p.Ala307Val)
n.791C>T
c.1070C>T (p.Ala357Val)
5g.137639006G>CCA361047909KLHL3c.1166C>G (p.Ala389Gly)
n.753C>G
c.*335-10569C>G (n.*335-10569C>G)
c.1046C>G (p.Ala349Gly)
c.920C>G (p.Ala307Gly)
n.791C>G
c.1070C>G (p.Ala357Gly)
5g.137639006G>TCA361047910KLHL3c.1166C>A (p.Ala389Glu)
n.753C>A
c.*335-10569C>A (n.*335-10569C>A)
c.1046C>A (p.Ala349Glu)
c.920C>A (p.Ala307Glu)
n.791C>A
c.1070C>A (p.Ala357Glu)
5g.137639007C>ACA361047911KLHL3c.1165G>T (p.Ala389Ser)
n.752G>T
c.*335-10570G>T (n.*335-10570G>T)
c.1045G>T (p.Ala349Ser)
c.919G>T (p.Ala307Ser)
n.790G>T
c.1069G>T (p.Ala357Ser)
 COSMIC
5g.137639007C=CA1585497526KLHL3c.1165G= (p.Ala389=)
n.752G=
c.*335-10570G= (n.*335-10570G=)
c.1045G= (p.Ala349=)
c.919G= (p.Ala307=)
n.790G=
c.1069G= (p.Ala357=)
5g.137639007C>GCA361047912KLHL3c.1165G>C (p.Ala389Pro)
n.752G>C
c.*335-10570G>C (n.*335-10570G>C)
c.1045G>C (p.Ala349Pro)
c.919G>C (p.Ala307Pro)
n.790G>C
c.1069G>C (p.Ala357Pro)
5g.137639007C>TCA3422282KLHL3c.1165G>A (p.Ala389Thr)
n.752G>A
c.*335-10570G>A (n.*335-10570G>A)
c.1045G>A (p.Ala349Thr)
c.919G>A (p.Ala307Thr)
n.790G>A
c.1069G>A (p.Ala357Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.137639008G>ACA3422283KLHL3c.1164C>T (p.Gly388=)
n.751C>T
c.*335-10571C>T (n.*335-10571C>T)
c.1044C>T (p.Gly348=)
c.918C>T (p.Gly306=)
n.789C>T
c.1068C>T (p.Gly356=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639008G>CCA446561003KLHL3c.1164C>G (p.Gly388=)
n.751C>G
c.*335-10571C>G (n.*335-10571C>G)
c.1044C>G (p.Gly348=)
c.918C>G (p.Gly306=)
n.789C>G
c.1068C>G (p.Gly356=)
5g.137639008G=CA1585497528KLHL3c.1164C= (p.Gly388=)
n.751C=
c.*335-10571C= (n.*335-10571C=)
c.1044C= (p.Gly348=)
c.918C= (p.Gly306=)
n.789C=
c.1068C= (p.Gly356=)
5g.137639008G>TCA446561004KLHL3c.1164C>A (p.Gly388=)
n.751C>A
c.*335-10571C>A (n.*335-10571C>A)
c.1044C>A (p.Gly348=)
c.918C>A (p.Gly306=)
n.789C>A
c.1068C>A (p.Gly356=)
5g.137639009C>ACA361047914KLHL3c.1163G>T (p.Gly388Val)
n.750G>T
c.*335-10572G>T (n.*335-10572G>T)
c.1043G>T (p.Gly348Val)
c.917G>T (p.Gly306Val)
n.788G>T
c.1067G>T (p.Gly356Val)
5g.137639009C>GCA361047916KLHL3c.1163G>C (p.Gly388Ala)
n.750G>C
c.*335-10572G>C (n.*335-10572G>C)
c.1043G>C (p.Gly348Ala)
c.917G>C (p.Gly306Ala)
n.788G>C
c.1067G>C (p.Gly356Ala)
5g.137639009C>TCA361047918KLHL3c.1163G>A (p.Gly388Asp)
n.750G>A
c.*335-10572G>A (n.*335-10572G>A)
c.1043G>A (p.Gly348Asp)
c.917G>A (p.Gly306Asp)
n.788G>A
c.1067G>A (p.Gly356Asp)
5g.137639010C>ACA361047920KLHL3c.1162G>T (p.Gly388Cys)
n.749G>T
c.*335-10573G>T (n.*335-10573G>T)
c.1042G>T (p.Gly348Cys)
c.916G>T (p.Gly306Cys)
n.787G>T
c.1066G>T (p.Gly356Cys)
5g.137639010C>GCA361047922KLHL3c.1162G>C (p.Gly388Arg)
n.749G>C
c.*335-10573G>C (n.*335-10573G>C)
c.1042G>C (p.Gly348Arg)
c.916G>C (p.Gly306Arg)
n.787G>C
c.1066G>C (p.Gly356Arg)
5g.137639010C>TCA361047923KLHL3c.1162G>A (p.Gly388Ser)
n.749G>A
c.*335-10573G>A (n.*335-10573G>A)
c.1042G>A (p.Gly348Ser)
c.916G>A (p.Gly306Ser)
n.787G>A
c.1066G>A (p.Gly356Ser)
5g.137639011C>ACA446561007KLHL3c.1161G>T (p.Leu387=)
n.748G>T
c.*335-10574G>T (n.*335-10574G>T)
c.1041G>T (p.Leu347=)
c.915G>T (p.Leu305=)
n.786G>T
c.1065G>T (p.Leu355=)
5g.137639011C>GCA446561008KLHL3c.1161G>C (p.Leu387=)
n.748G>C
c.*335-10574G>C (n.*335-10574G>C)
c.1041G>C (p.Leu347=)
c.915G>C (p.Leu305=)
n.786G>C
c.1065G>C (p.Leu355=)
5g.137639011C>TCA446561009KLHL3c.1161G>A (p.Leu387=)
n.748G>A
c.*335-10574G>A (n.*335-10574G>A)
c.1041G>A (p.Leu347=)
c.915G>A (p.Leu305=)
n.786G>A
c.1065G>A (p.Leu355=)
5g.137639012A=CA1585497535KLHL3c.1160T= (p.Leu387=)
n.747T=
c.*335-10575T= (n.*335-10575T=)
c.1040T= (p.Leu347=)
c.914T= (p.Leu305=)
n.785T=
c.1064T= (p.Leu355=)
5g.137639012A>CCA361047925KLHL3c.1160T>G (p.Leu387Arg)
n.747T>G
c.*335-10575T>G (n.*335-10575T>G)
c.1040T>G (p.Leu347Arg)
c.914T>G (p.Leu305Arg)
n.785T>G
c.1064T>G (p.Leu355Arg)
5g.137639012A>GCA269976KLHL3c.1160T>C (p.Leu387Pro)
n.747T>C
c.*335-10575T>C (n.*335-10575T>C)
c.1040T>C (p.Leu347Pro)
c.914T>C (p.Leu305Pro)
n.785T>C
c.1064T>C (p.Leu355Pro)
 ClinVar dbSNP
5g.137639012A>TCA361047927KLHL3c.1160T>A (p.Leu387Gln)
n.747T>A
c.*335-10575T>A (n.*335-10575T>A)
c.1040T>A (p.Leu347Gln)
c.914T>A (p.Leu305Gln)
n.785T>A
c.1064T>A (p.Leu355Gln)
5g.137639013G>ACA446561010KLHL3c.1159C>T (p.Leu387=)
n.746C>T
c.*335-10576C>T (n.*335-10576C>T)
c.1039C>T (p.Leu347=)
c.913C>T (p.Leu305=)
n.784C>T
c.1063C>T (p.Leu355=)
 dbSNP
5g.137639013G>CCA361047929KLHL3c.1159C>G (p.Leu387Val)
n.746C>G
c.*335-10576C>G (n.*335-10576C>G)
c.1039C>G (p.Leu347Val)
c.913C>G (p.Leu305Val)
n.784C>G
c.1063C>G (p.Leu355Val)
5g.137639013G=CA1585497541KLHL3c.1159C= (p.Leu387=)
n.746C=
c.*335-10576C= (n.*335-10576C=)
c.1039C= (p.Leu347=)
c.913C= (p.Leu305=)
n.784C=
c.1063C= (p.Leu355=)
5g.137639013G>TCA361047931KLHL3c.1159C>A (p.Leu387Met)
n.746C>A
c.*335-10576C>A (n.*335-10576C>A)
c.1039C>A (p.Leu347Met)
c.913C>A (p.Leu305Met)
n.784C>A
c.1063C>A (p.Leu355Met)
5g.137639014T>ACA446561013KLHL3c.1158A>T (p.Thr386=)
n.745A>T
c.*335-10577A>T (n.*335-10577A>T)
c.1038A>T (p.Thr346=)
c.912A>T (p.Thr304=)
n.783A>T
c.1062A>T (p.Thr354=)
5g.137639014T>CCA446561014KLHL3c.1158A>G (p.Thr386=)
n.745A>G
c.*335-10577A>G (n.*335-10577A>G)
c.1038A>G (p.Thr346=)
c.912A>G (p.Thr304=)
n.783A>G
c.1062A>G (p.Thr354=)
5g.137639014T>GCA446561016KLHL3c.1158A>C (p.Thr386=)
n.745A>C
c.*335-10577A>C (n.*335-10577A>C)
c.1038A>C (p.Thr346=)
c.912A>C (p.Thr304=)
n.783A>C
c.1062A>C (p.Thr354=)
 dbSNP gnomAD v2 gnomAD v4
5g.137639014T=CA1585497545KLHL3c.1158A= (p.Thr386=)
n.745A=
c.*335-10577A= (n.*335-10577A=)
c.1038A= (p.Thr346=)
c.912A= (p.Thr304=)
n.783A=
c.1062A= (p.Thr354=)
5g.137639015G>ACA361047933KLHL3c.1157C>T (p.Thr386Ile)
n.744C>T
c.*335-10578C>T (n.*335-10578C>T)
c.1037C>T (p.Thr346Ile)
c.911C>T (p.Thr304Ile)
n.782C>T
c.1061C>T (p.Thr354Ile)
5g.137639015G>CCA361047935KLHL3c.1157C>G (p.Thr386Arg)
n.744C>G
c.*335-10578C>G (n.*335-10578C>G)
c.1037C>G (p.Thr346Arg)
c.911C>G (p.Thr304Arg)
n.782C>G
c.1061C>G (p.Thr354Arg)
5g.137639015G>TCA361047937KLHL3c.1157C>A (p.Thr386Lys)
n.744C>A
c.*335-10578C>A (n.*335-10578C>A)
c.1037C>A (p.Thr346Lys)
c.911C>A (p.Thr304Lys)
n.782C>A
c.1061C>A (p.Thr354Lys)
5g.137639016T>ACA361047938KLHL3c.1156A>T (p.Thr386Ser)
n.743A>T
c.*335-10579A>T (n.*335-10579A>T)
c.1036A>T (p.Thr346Ser)
c.910A>T (p.Thr304Ser)
n.781A>T
c.1060A>T (p.Thr354Ser)
5g.137639016T>CCA361047940KLHL3c.1156A>G (p.Thr386Ala)
n.743A>G
c.*335-10579A>G (n.*335-10579A>G)
c.1036A>G (p.Thr346Ala)
c.910A>G (p.Thr304Ala)
n.781A>G
c.1060A>G (p.Thr354Ala)
5g.137639016T>GCA361047942KLHL3c.1156A>C (p.Thr386Pro)
n.743A>C
c.*335-10579A>C (n.*335-10579A>C)
c.1036A>C (p.Thr346Pro)
c.910A>C (p.Thr304Pro)
n.781A>C
c.1060A>C (p.Thr354Pro)
5g.137639017G>ACA446561017KLHL3c.1155C>T (p.Ser385=)
n.742C>T
c.*335-10580C>T (n.*335-10580C>T)
c.1035C>T (p.Ser345=)
c.909C>T (p.Ser303=)
n.780C>T
c.1059C>T (p.Ser353=)
5g.137639017G>CCA361047945KLHL3c.1155C>G (p.Ser385Arg)
n.742C>G
c.*335-10580C>G (n.*335-10580C>G)
c.1035C>G (p.Ser345Arg)
c.909C>G (p.Ser303Arg)
n.780C>G
c.1059C>G (p.Ser353Arg)
5g.137639017G>TCA361047947KLHL3c.1155C>A (p.Ser385Arg)
n.742C>A
c.*335-10580C>A (n.*335-10580C>A)
c.1035C>A (p.Ser345Arg)
c.909C>A (p.Ser303Arg)
n.780C>A
c.1059C>A (p.Ser353Arg)
5g.137639018C>ACA361047952KLHL3c.1154G>T (p.Ser385Ile)
n.741G>T
c.*335-10581G>T (n.*335-10581G>T)
c.1034G>T (p.Ser345Ile)
c.908G>T (p.Ser303Ile)
n.779G>T
c.1058G>T (p.Ser353Ile)
5g.137639018C>GCA361047950KLHL3c.1154G>C (p.Ser385Thr)
n.741G>C
c.*335-10581G>C (n.*335-10581G>C)
c.1034G>C (p.Ser345Thr)
c.908G>C (p.Ser303Thr)
n.779G>C
c.1058G>C (p.Ser353Thr)
5g.137639018C>TCA361047948KLHL3c.1154G>A (p.Ser385Asn)
n.741G>A
c.*335-10581G>A (n.*335-10581G>A)
c.1034G>A (p.Ser345Asn)
c.908G>A (p.Ser303Asn)
n.779G>A
c.1058G>A (p.Ser353Asn)
 gnomAD v4 COSMIC
5g.137639019T>ACA361047959KLHL3c.1153A>T (p.Ser385Cys)
n.740A>T
c.*335-10582A>T (n.*335-10582A>T)
c.1033A>T (p.Ser345Cys)
c.907A>T (p.Ser303Cys)
n.778A>T
c.1057A>T (p.Ser353Cys)
5g.137639019T>CCA361047954KLHL3c.1153A>G (p.Ser385Gly)
n.740A>G
c.*335-10582A>G (n.*335-10582A>G)
c.1033A>G (p.Ser345Gly)
c.907A>G (p.Ser303Gly)
n.778A>G
c.1057A>G (p.Ser353Gly)
 ClinVar
5g.137639019T>GCA361047956KLHL3c.1153A>C (p.Ser385Arg)
n.740A>C
c.*335-10582A>C (n.*335-10582A>C)
c.1033A>C (p.Ser345Arg)
c.907A>C (p.Ser303Arg)
n.778A>C
c.1057A>C (p.Ser353Arg)
5g.137639020C>ACA446561020KLHL3c.1152G>T (p.Arg384=)
n.739G>T
c.*335-10583G>T (n.*335-10583G>T)
c.1032G>T (p.Arg344=)
c.906G>T (p.Arg302=)
n.777G>T
c.1056G>T (p.Arg352=)
5g.137639020C>GCA446561021KLHL3c.1152G>C (p.Arg384=)
n.739G>C
c.*335-10583G>C (n.*335-10583G>C)
c.1032G>C (p.Arg344=)
c.906G>C (p.Arg302=)
n.777G>C
c.1056G>C (p.Arg352=)
5g.137639020C>TCA446561022KLHL3c.1152G>A (p.Arg384=)
n.739G>A
c.*335-10583G>A (n.*335-10583G>A)
c.1032G>A (p.Arg344=)
c.906G>A (p.Arg302=)
n.777G>A
c.1056G>A (p.Arg352=)
5g.137639021C>ACA361047960KLHL3c.1151G>T (p.Arg384Leu)
n.738G>T
c.*335-10584G>T (n.*335-10584G>T)
c.1031G>T (p.Arg344Leu)
c.905G>T (p.Arg302Leu)
n.776G>T
c.1055G>T (p.Arg352Leu)
5g.137639021C=CA1585497552KLHL3c.1151G= (p.Arg384=)
n.738G=
c.*335-10584G= (n.*335-10584G=)
c.1031G= (p.Arg344=)
c.905G= (p.Arg302=)
n.776G=
c.1055G= (p.Arg352=)
5g.137639021C>GCA361047961KLHL3c.1151G>C (p.Arg384Pro)
n.738G>C
c.*335-10584G>C (n.*335-10584G>C)
c.1031G>C (p.Arg344Pro)
c.905G>C (p.Arg302Pro)
n.776G>C
c.1055G>C (p.Arg352Pro)
5g.137639021C>TCA269983KLHL3c.1151G>A (p.Arg384Gln)
n.738G>A
c.*335-10584G>A (n.*335-10584G>A)
c.1031G>A (p.Arg344Gln)
c.905G>A (p.Arg302Gln)
n.776G>A
c.1055G>A (p.Arg352Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639022G>ACA128103823KLHL3c.1150C>T (p.Arg384Trp)
n.737C>T
c.*335-10585C>T (n.*335-10585C>T)
c.1030C>T (p.Arg344Trp)
c.904C>T (p.Arg302Trp)
n.775C>T
c.1054C>T (p.Arg352Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.137639022G>CCA361047963KLHL3c.1150C>G (p.Arg384Gly)
n.737C>G
c.*335-10585C>G (n.*335-10585C>G)
c.1030C>G (p.Arg344Gly)
c.904C>G (p.Arg302Gly)
n.775C>G
c.1054C>G (p.Arg352Gly)
 gnomAD v4
5g.137639022G=CA1585497556KLHL3c.1150C= (p.Arg384=)
n.737C=
c.*335-10585C= (n.*335-10585C=)
c.1030C= (p.Arg344=)
c.904C= (p.Arg302=)
n.775C=
c.1054C= (p.Arg352=)
5g.137639022G>TCA446561024KLHL3c.1150C>A (p.Arg384=)
n.737C>A
c.*335-10585C>A (n.*335-10585C>A)
c.1030C>A (p.Arg344=)
c.904C>A (p.Arg302=)
n.775C>A
c.1054C>A (p.Arg352=)
 dbSNP gnomAD v4
5g.137639023G>ACA446561025KLHL3c.1149C>T (p.Arg383=)
n.736C>T
c.*335-10586C>T (n.*335-10586C>T)
c.1029C>T (p.Arg343=)
c.903C>T (p.Arg301=)
n.774C>T
c.1053C>T (p.Arg351=)
5g.137639023G>CCA446561026KLHL3c.1149C>G (p.Arg383=)
n.736C>G
c.*335-10586C>G (n.*335-10586C>G)
c.1029C>G (p.Arg343=)
c.903C>G (p.Arg301=)
n.774C>G
c.1053C>G (p.Arg351=)
5g.137639023G>TCA446561027KLHL3c.1149C>A (p.Arg383=)
n.736C>A
c.*335-10586C>A (n.*335-10586C>A)
c.1029C>A (p.Arg343=)
c.903C>A (p.Arg301=)
n.774C>A
c.1053C>A (p.Arg351=)
5g.137639024C>ACA361047964KLHL3c.1148G>T (p.Arg383Leu)
n.735G>T
c.*335-10587G>T (n.*335-10587G>T)
c.1028G>T (p.Arg343Leu)
c.902G>T (p.Arg301Leu)
n.773G>T
c.1052G>T (p.Arg351Leu)
5g.137639024C>GCA361047965KLHL3c.1148G>C (p.Arg383Pro)
n.735G>C
c.*335-10587G>C (n.*335-10587G>C)
c.1028G>C (p.Arg343Pro)
c.902G>C (p.Arg301Pro)
n.773G>C
c.1052G>C (p.Arg351Pro)
5g.137639024C>TCA361047966KLHL3c.1148G>A (p.Arg383His)
n.735G>A
c.*335-10587G>A (n.*335-10587G>A)
c.1028G>A (p.Arg343His)
c.902G>A (p.Arg301His)
n.773G>A
c.1052G>A (p.Arg351His)
 gnomAD v4
5g.137639025G>ACA361047967KLHL3c.1147C>T (p.Arg383Cys)
n.734C>T
c.*335-10588C>T (n.*335-10588C>T)
c.1027C>T (p.Arg343Cys)
c.901C>T (p.Arg301Cys)
n.772C>T
c.1051C>T (p.Arg351Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.137639025G>CCA361047969KLHL3c.1147C>G (p.Arg383Gly)
n.734C>G
c.*335-10588C>G (n.*335-10588C>G)
c.1027C>G (p.Arg343Gly)
c.901C>G (p.Arg301Gly)
n.772C>G
c.1051C>G (p.Arg351Gly)
5g.137639025G=CA1585497559KLHL3c.1147C= (p.Arg383=)
n.734C=
c.*335-10588C= (n.*335-10588C=)
c.1027C= (p.Arg343=)
c.901C= (p.Arg301=)
n.772C=
c.1051C= (p.Arg351=)
5g.137639025G>TCA361047971KLHL3c.1147C>A (p.Arg383Ser)
n.734C>A
c.*335-10588C>A (n.*335-10588C>A)
c.1027C>A (p.Arg343Ser)
c.901C>A (p.Arg301Ser)
n.772C>A
c.1051C>A (p.Arg351Ser)
5g.137639026C>ACA361047975KLHL3c.1146G>T (p.Glu382Asp)
n.733G>T
c.*335-10589G>T (n.*335-10589G>T)
c.1026G>T (p.Glu342Asp)
c.900G>T (p.Glu300Asp)
n.771G>T
c.1050G>T (p.Glu350Asp)
 gnomAD v4
5g.137639026C=CA1585497564KLHL3c.1146G= (p.Glu382=)
n.733G=
c.*335-10589G= (n.*335-10589G=)
c.1026G= (p.Glu342=)
c.900G= (p.Glu300=)
n.771G=
c.1050G= (p.Glu350=)
5g.137639026C>GCA361047973KLHL3c.1146G>C (p.Glu382Asp)
n.733G>C
c.*335-10589G>C (n.*335-10589G>C)
c.1026G>C (p.Glu342Asp)
c.900G>C (p.Glu300Asp)
n.771G>C
c.1050G>C (p.Glu350Asp)
5g.137639026C>TCA446561031KLHL3c.1146G>A (p.Glu382=)
n.733G>A
c.*335-10589G>A (n.*335-10589G>A)
c.1026G>A (p.Glu342=)
c.900G>A (p.Glu300=)
n.771G>A
c.1050G>A (p.Glu350=)
 dbSNP gnomAD v3 gnomAD v4
5g.137639027T>ACA361047978KLHL3c.1145A>T (p.Glu382Val)
n.732A>T
c.*335-10590A>T (n.*335-10590A>T)
c.1025A>T (p.Glu342Val)
c.899A>T (p.Glu300Val)
n.770A>T
c.1049A>T (p.Glu350Val)
5g.137639027T>CCA361047980KLHL3c.1145A>G (p.Glu382Gly)
n.732A>G
c.*335-10590A>G (n.*335-10590A>G)
c.1025A>G (p.Glu342Gly)
c.899A>G (p.Glu300Gly)
n.770A>G
c.1049A>G (p.Glu350Gly)
5g.137639027T>GCA361047982KLHL3c.1145A>C (p.Glu382Ala)
n.732A>C
c.*335-10590A>C (n.*335-10590A>C)
c.1025A>C (p.Glu342Ala)
c.899A>C (p.Glu300Ala)
n.770A>C
c.1049A>C (p.Glu350Ala)
5g.137639028C>ACA361047984KLHL3c.1144G>T (p.Glu382Ter)
n.731G>T
c.*335-10591G>T (n.*335-10591G>T)
c.1024G>T (p.Glu342Ter)
c.898G>T (p.Glu300Ter)
n.769G>T
c.1048G>T (p.Glu350Ter)
5g.137639028C>GCA361047986KLHL3c.1144G>C (p.Glu382Gln)
n.731G>C
c.*335-10591G>C (n.*335-10591G>C)
c.1024G>C (p.Glu342Gln)
c.898G>C (p.Glu300Gln)
n.769G>C
c.1048G>C (p.Glu350Gln)
5g.137639028C>TCA361047988KLHL3c.1144G>A (p.Glu382Lys)
n.731G>A
c.*335-10591G>A (n.*335-10591G>A)
c.1024G>A (p.Glu342Lys)
c.898G>A (p.Glu300Lys)
n.769G>A
c.1048G>A (p.Glu350Lys)
5g.137639029C>ACA361047989KLHL3c.1143G>T (p.Gln381His)
n.730G>T
c.*335-10592G>T (n.*335-10592G>T)
c.1023G>T (p.Gln341His)
c.897G>T (p.Gln299His)
n.768G>T
c.1047G>T (p.Gln349His)
5g.137639029C>GCA361047990KLHL3c.1143G>C (p.Gln381His)
n.730G>C
c.*335-10592G>C (n.*335-10592G>C)
c.1023G>C (p.Gln341His)
c.897G>C (p.Gln299His)
n.768G>C
c.1047G>C (p.Gln349His)
5g.137639029C>TCA446561033KLHL3c.1143G>A (p.Gln381=)
n.730G>A
c.*335-10592G>A (n.*335-10592G>A)
c.1023G>A (p.Gln341=)
c.897G>A (p.Gln299=)
n.768G>A
c.1047G>A (p.Gln349=)
5g.137639030T>ACA361047993KLHL3c.1142A>T (p.Gln381Leu)
n.729A>T
c.*335-10593A>T (n.*335-10593A>T)
c.1022A>T (p.Gln341Leu)
c.896A>T (p.Gln299Leu)
n.767A>T
c.1046A>T (p.Gln349Leu)
5g.137639030T>CCA361047994KLHL3c.1142A>G (p.Gln381Arg)
n.729A>G
c.*335-10593A>G (n.*335-10593A>G)
c.1022A>G (p.Gln341Arg)
c.896A>G (p.Gln299Arg)
n.767A>G
c.1046A>G (p.Gln349Arg)
5g.137639030T>GCA361047996KLHL3c.1142A>C (p.Gln381Pro)
n.729A>C
c.*335-10593A>C (n.*335-10593A>C)
c.1022A>C (p.Gln341Pro)
c.896A>C (p.Gln299Pro)
n.767A>C
c.1046A>C (p.Gln349Pro)
5g.137639031G>ACA361047997KLHL3c.1141C>T (p.Gln381Ter)
n.728C>T
c.*335-10594C>T (n.*335-10594C>T)
c.1021C>T (p.Gln341Ter)
c.895C>T (p.Gln299Ter)
n.766C>T
c.1045C>T (p.Gln349Ter)
 gnomAD v4 COSMIC
5g.137639031G>CCA361047999KLHL3c.1141C>G (p.Gln381Glu)
n.728C>G
c.*335-10594C>G (n.*335-10594C>G)
c.1021C>G (p.Gln341Glu)
c.895C>G (p.Gln299Glu)
n.766C>G
c.1045C>G (p.Gln349Glu)
5g.137639031G>TCA361048001KLHL3c.1141C>A (p.Gln381Lys)
n.728C>A
c.*335-10594C>A (n.*335-10594C>A)
c.1021C>A (p.Gln341Lys)
c.895C>A (p.Gln299Lys)
n.766C>A
c.1045C>A (p.Gln349Lys)
5g.137639032C>ACA361048008KLHL3c.1140G>T (p.Met380Ile)
n.727G>T
c.*335-10595G>T (n.*335-10595G>T)
c.1020G>T (p.Met340Ile)
c.894G>T (p.Met298Ile)
n.765G>T
c.1044G>T (p.Met348Ile)
 gnomAD v4
5g.137639032C>GCA361048005KLHL3c.1140G>C (p.Met380Ile)
n.727G>C
c.*335-10595G>C (n.*335-10595G>C)
c.1020G>C (p.Met340Ile)
c.894G>C (p.Met298Ile)
n.765G>C
c.1044G>C (p.Met348Ile)
5g.137639032C>TCA361048004KLHL3c.1140G>A (p.Met380Ile)
n.727G>A
c.*335-10595G>A (n.*335-10595G>A)
c.1020G>A (p.Met340Ile)
c.894G>A (p.Met298Ile)
n.765G>A
c.1044G>A (p.Met348Ile)
 gnomAD v4 COSMIC
5g.137639033A=CA1585497567KLHL3c.1139T= (p.Met380=)
n.726T=
c.*335-10596T= (n.*335-10596T=)
c.1019T= (p.Met340=)
c.893T= (p.Met298=)
n.764T=
c.1043T= (p.Met348=)
5g.137639033A>CCA361048011KLHL3c.1139T>G (p.Met380Arg)
n.726T>G
c.*335-10596T>G (n.*335-10596T>G)
c.1019T>G (p.Met340Arg)
c.893T>G (p.Met298Arg)
n.764T>G
c.1043T>G (p.Met348Arg)
5g.137639033A>GCA128103844KLHL3c.1139T>C (p.Met380Thr)
n.726T>C
c.*335-10596T>C (n.*335-10596T>C)
c.1019T>C (p.Met340Thr)
c.893T>C (p.Met298Thr)
n.764T>C
c.1043T>C (p.Met348Thr)
 dbSNP
5g.137639033A>TCA361048015KLHL3c.1139T>A (p.Met380Lys)
n.726T>A
c.*335-10596T>A (n.*335-10596T>A)
c.1019T>A (p.Met340Lys)
c.893T>A (p.Met298Lys)
n.764T>A
c.1043T>A (p.Met348Lys)
5g.137639034T>ACA361048017KLHL3c.1138A>T (p.Met380Leu)
n.725A>T
c.*335-10597A>T (n.*335-10597A>T)
c.1018A>T (p.Met340Leu)
c.892A>T (p.Met298Leu)
n.763A>T
c.1042A>T (p.Met348Leu)
5g.137639034T>CCA361048018KLHL3c.1138A>G (p.Met380Val)
n.725A>G
c.*335-10597A>G (n.*335-10597A>G)
c.1018A>G (p.Met340Val)
c.892A>G (p.Met298Val)
n.763A>G
c.1042A>G (p.Met348Val)
5g.137639034T>GCA128103847KLHL3c.1138A>C (p.Met380Leu)
n.725A>C
c.*335-10597A>C (n.*335-10597A>C)
c.1018A>C (p.Met340Leu)
c.892A>C (p.Met298Leu)
n.763A>C
c.1042A>C (p.Met348Leu)
 dbSNP
5g.137639034T=CA1585497569KLHL3c.1138A= (p.Met380=)
n.725A=
c.*335-10597A= (n.*335-10597A=)
c.1018A= (p.Met340=)
c.892A= (p.Met298=)
n.763A=
c.1042A= (p.Met348=)
5g.137639035G>ACA446561037KLHL3c.1137C>T (p.Ser379=)
n.724C>T
c.*335-10598C>T (n.*335-10598C>T)
c.1017C>T (p.Ser339=)
c.891C>T (p.Ser297=)
n.762C>T
c.1041C>T (p.Ser347=)
5g.137639035G>CCA361048021KLHL3c.1137C>G (p.Ser379Arg)
n.724C>G
c.*335-10598C>G (n.*335-10598C>G)
c.1017C>G (p.Ser339Arg)
c.891C>G (p.Ser297Arg)
n.762C>G
c.1041C>G (p.Ser347Arg)
5g.137639035G>TCA361048022KLHL3c.1137C>A (p.Ser379Arg)
n.724C>A
c.*335-10598C>A (n.*335-10598C>A)
c.1017C>A (p.Ser339Arg)
c.891C>A (p.Ser297Arg)
n.762C>A
c.1041C>A (p.Ser347Arg)
5g.137639035_137639056delCA1081988227KLHL3c.1116_1137del (p.Asp372GlufsTer30)
n.703_724del
c.*335-10619_*335-10598del (n.*335-10619_*335-10598del)
c.996_1017del (p.Asp332GlufsTer30)
c.870_891del (p.Asp290GlufsTer30)
n.741_762del
c.1020_1041del (p.Asp340GlufsTer30)
 gnomAD v3 gnomAD v4
5g.137639036C>ACA361048025KLHL3c.1136G>T (p.Ser379Ile)
n.723G>T
c.*335-10599G>T (n.*335-10599G>T)
c.1016G>T (p.Ser339Ile)
c.890G>T (p.Ser297Ile)
n.761G>T
c.1040G>T (p.Ser347Ile)
5g.137639036C=CA1585497571KLHL3c.1136G= (p.Ser379=)
n.723G=
c.*335-10599G= (n.*335-10599G=)
c.1016G= (p.Ser339=)
c.890G= (p.Ser297=)
n.761G=
c.1040G= (p.Ser347=)
5g.137639036C>GCA361048028KLHL3c.1136G>C (p.Ser379Thr)
n.723G>C
c.*335-10599G>C (n.*335-10599G>C)
c.1016G>C (p.Ser339Thr)
c.890G>C (p.Ser297Thr)
n.761G>C
c.1040G>C (p.Ser347Thr)
5g.137639036C>TCA361048027KLHL3c.1136G>A (p.Ser379Asn)
n.723G>A
c.*335-10599G>A (n.*335-10599G>A)
c.1016G>A (p.Ser339Asn)
c.890G>A (p.Ser297Asn)
n.761G>A
c.1040G>A (p.Ser347Asn)
 dbSNP
5g.137639037T>ACA361048029KLHL3c.1135A>T (p.Ser379Cys)
n.722A>T
c.*335-10600A>T (n.*335-10600A>T)
c.1015A>T (p.Ser339Cys)
c.889A>T (p.Ser297Cys)
n.760A>T
c.1039A>T (p.Ser347Cys)
5g.137639037T>CCA361048031KLHL3c.1135A>G (p.Ser379Gly)
n.722A>G
c.*335-10600A>G (n.*335-10600A>G)
c.1015A>G (p.Ser339Gly)
c.889A>G (p.Ser297Gly)
n.760A>G
c.1039A>G (p.Ser347Gly)
5g.137639037T>GCA361048032KLHL3c.1135A>C (p.Ser379Arg)
n.722A>C
c.*335-10600A>C (n.*335-10600A>C)
c.1015A>C (p.Ser339Arg)
c.889A>C (p.Ser297Arg)
n.760A>C
c.1039A>C (p.Ser347Arg)
5g.137639038G>ACA3422284KLHL3c.1134C>T (p.Ala378=)
n.721C>T
c.*335-10601C>T (n.*335-10601C>T)
c.1014C>T (p.Ala338=)
c.888C>T (p.Ala296=)
n.759C>T
c.1038C>T (p.Ala346=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639038G>CCA446561038KLHL3c.1134C>G (p.Ala378=)
n.721C>G
c.*335-10601C>G (n.*335-10601C>G)
c.1014C>G (p.Ala338=)
c.888C>G (p.Ala296=)
n.759C>G
c.1038C>G (p.Ala346=)
5g.137639038G=CA1585497574KLHL3c.1134C= (p.Ala378=)
n.721C=
c.*335-10601C= (n.*335-10601C=)
c.1014C= (p.Ala338=)
c.888C= (p.Ala296=)
n.759C=
c.1038C= (p.Ala346=)
5g.137639038G>TCA446561039KLHL3c.1134C>A (p.Ala378=)
n.721C>A
c.*335-10601C>A (n.*335-10601C>A)
c.1014C>A (p.Ala338=)
c.888C>A (p.Ala296=)
n.759C>A
c.1038C>A (p.Ala346=)
 dbSNP
5g.137639039G>ACA361048039KLHL3c.1133C>T (p.Ala378Val)
n.720C>T
c.*335-10602C>T (n.*335-10602C>T)
c.1013C>T (p.Ala338Val)
c.887C>T (p.Ala296Val)
n.758C>T
c.1037C>T (p.Ala346Val)
5g.137639039G>CCA361048035KLHL3c.1133C>G (p.Ala378Gly)
n.720C>G
c.*335-10602C>G (n.*335-10602C>G)
c.1013C>G (p.Ala338Gly)
c.887C>G (p.Ala296Gly)
n.758C>G
c.1037C>G (p.Ala346Gly)
5g.137639039G>TCA361048037KLHL3c.1133C>A (p.Ala378Asp)
n.720C>A
c.*335-10602C>A (n.*335-10602C>A)
c.1013C>A (p.Ala338Asp)
c.887C>A (p.Ala296Asp)
n.758C>A
c.1037C>A (p.Ala346Asp)
5g.137639040C>ACA361048041KLHL3c.1132G>T (p.Ala378Ser)
n.719G>T
c.*335-10603G>T (n.*335-10603G>T)
c.1012G>T (p.Ala338Ser)
c.886G>T (p.Ala296Ser)
n.757G>T
c.1036G>T (p.Ala346Ser)
5g.137639040C>GCA361048042KLHL3c.1132G>C (p.Ala378Pro)
n.719G>C
c.*335-10603G>C (n.*335-10603G>C)
c.1012G>C (p.Ala338Pro)
c.886G>C (p.Ala296Pro)
n.757G>C
c.1036G>C (p.Ala346Pro)
5g.137639040C>TCA361048045KLHL3c.1132G>A (p.Ala378Thr)
n.719G>A
c.*335-10603G>A (n.*335-10603G>A)
c.1012G>A (p.Ala338Thr)
c.886G>A (p.Ala296Thr)
n.757G>A
c.1036G>A (p.Ala346Thr)
 gnomAD v4
5g.137639041A>CCA361048047KLHL3c.1131T>G (p.Ile377Met)
n.718T>G
c.*335-10604T>G (n.*335-10604T>G)
c.1011T>G (p.Ile337Met)
c.885T>G (p.Ile295Met)
n.756T>G
c.1035T>G (p.Ile345Met)
5g.137639041A>GCA446561042KLHL3c.1131T>C (p.Ile377=)
n.718T>C
c.*335-10604T>C (n.*335-10604T>C)
c.1011T>C (p.Ile337=)
c.885T>C (p.Ile295=)
n.756T>C
c.1035T>C (p.Ile345=)
5g.137639041A>TCA446561041KLHL3c.1131T>A (p.Ile377=)
n.718T>A
c.*335-10604T>A (n.*335-10604T>A)
c.1011T>A (p.Ile337=)
c.885T>A (p.Ile295=)
n.756T>A
c.1035T>A (p.Ile345=)
5g.137639042A>CCA361048049KLHL3c.1130T>G (p.Ile377Ser)
n.717T>G
c.*335-10605T>G (n.*335-10605T>G)
c.1010T>G (p.Ile337Ser)
c.884T>G (p.Ile295Ser)
n.755T>G
c.1034T>G (p.Ile345Ser)
5g.137639042A>GCA361048051KLHL3c.1130T>C (p.Ile377Thr)
n.717T>C
c.*335-10605T>C (n.*335-10605T>C)
c.1010T>C (p.Ile337Thr)
c.884T>C (p.Ile295Thr)
n.755T>C
c.1034T>C (p.Ile345Thr)
 COSMIC
5g.137639042A>TCA361048053KLHL3c.1130T>A (p.Ile377Asn)
n.717T>A
c.*335-10605T>A (n.*335-10605T>A)
c.1010T>A (p.Ile337Asn)
c.884T>A (p.Ile295Asn)
n.755T>A
c.1034T>A (p.Ile345Asn)
5g.137639043T>ACA361048055KLHL3c.1129A>T (p.Ile377Phe)
n.716A>T
c.*335-10606A>T (n.*335-10606A>T)
c.1009A>T (p.Ile337Phe)
c.883A>T (p.Ile295Phe)
n.754A>T
c.1033A>T (p.Ile345Phe)
5g.137639043T>CCA361048057KLHL3c.1129A>G (p.Ile377Val)
n.716A>G
c.*335-10606A>G (n.*335-10606A>G)
c.1009A>G (p.Ile337Val)
c.883A>G (p.Ile295Val)
n.754A>G
c.1033A>G (p.Ile345Val)
 gnomAD v4
5g.137639043T>GCA361048061KLHL3c.1129A>C (p.Ile377Leu)
n.716A>C
c.*335-10606A>C (n.*335-10606A>C)
c.1009A>C (p.Ile337Leu)
c.883A>C (p.Ile295Leu)
n.754A>C
c.1033A>C (p.Ile345Leu)
 dbSNP
5g.137639043T=CA1585497576KLHL3c.1129A= (p.Ile377=)
n.716A=
c.*335-10606A= (n.*335-10606A=)
c.1009A= (p.Ile337=)
c.883A= (p.Ile295=)
n.754A=
c.1033A= (p.Ile345=)
5g.137639044G>ACA446561045KLHL3c.1128C>T (p.Ser376=)
n.715C>T
c.*335-10607C>T (n.*335-10607C>T)
c.1008C>T (p.Ser336=)
c.882C>T (p.Ser294=)
n.753C>T
c.1032C>T (p.Ser344=)
 dbSNP gnomAD v2 gnomAD v4
5g.137639044G>CCA446561043KLHL3c.1128C>G (p.Ser376=)
n.715C>G
c.*335-10607C>G (n.*335-10607C>G)
c.1008C>G (p.Ser336=)
c.882C>G (p.Ser294=)
n.753C>G
c.1032C>G (p.Ser344=)
5g.137639044G=CA1585497578KLHL3c.1128C= (p.Ser376=)
n.715C=
c.*335-10607C= (n.*335-10607C=)
c.1008C= (p.Ser336=)
c.882C= (p.Ser294=)
n.753C=
c.1032C= (p.Ser344=)
5g.137639044G>TCA446561044KLHL3c.1128C>A (p.Ser376=)
n.715C>A
c.*335-10607C>A (n.*335-10607C>A)
c.1008C>A (p.Ser336=)
c.882C>A (p.Ser294=)
n.753C>A
c.1032C>A (p.Ser344=)
5g.137639045G>ACA361048063KLHL3c.1127C>T (p.Ser376Phe)
n.714C>T
c.*335-10608C>T (n.*335-10608C>T)
c.1007C>T (p.Ser336Phe)
c.881C>T (p.Ser294Phe)
n.752C>T
c.1031C>T (p.Ser344Phe)
 gnomAD v4
5g.137639045G>CCA361048065KLHL3c.1127C>G (p.Ser376Cys)
n.714C>G
c.*335-10608C>G (n.*335-10608C>G)
c.1007C>G (p.Ser336Cys)
c.881C>G (p.Ser294Cys)
n.752C>G
c.1031C>G (p.Ser344Cys)
5g.137639045G>TCA361048067KLHL3c.1127C>A (p.Ser376Tyr)
n.714C>A
c.*335-10608C>A (n.*335-10608C>A)
c.1007C>A (p.Ser336Tyr)
c.881C>A (p.Ser294Tyr)
n.752C>A
c.1031C>A (p.Ser344Tyr)
5g.137639046A>CCA361048069KLHL3c.1126T>G (p.Ser376Ala)
n.713T>G
c.*335-10609T>G (n.*335-10609T>G)
c.1006T>G (p.Ser336Ala)
c.880T>G (p.Ser294Ala)
n.751T>G
c.1030T>G (p.Ser344Ala)
5g.137639046A>GCA361048073KLHL3c.1126T>C (p.Ser376Pro)
n.713T>C
c.*335-10609T>C (n.*335-10609T>C)
c.1006T>C (p.Ser336Pro)
c.880T>C (p.Ser294Pro)
n.751T>C
c.1030T>C (p.Ser344Pro)
5g.137639046A>TCA361048071KLHL3c.1126T>A (p.Ser376Thr)
n.713T>A
c.*335-10609T>A (n.*335-10609T>A)
c.1006T>A (p.Ser336Thr)
c.880T>A (p.Ser294Thr)
n.751T>A
c.1030T>A (p.Ser344Thr)
5g.137639047C>ACA446561048KLHL3c.1125G>T (p.Thr375=)
n.712G>T
c.*335-10610G>T (n.*335-10610G>T)
c.1005G>T (p.Thr335=)
c.879G>T (p.Thr293=)
n.750G>T
c.1029G>T (p.Thr343=)
5g.137639047C=CA1585497580KLHL3c.1125G= (p.Thr375=)
n.712G=
c.*335-10610G= (n.*335-10610G=)
c.1005G= (p.Thr335=)
c.879G= (p.Thr293=)
n.750G=
c.1029G= (p.Thr343=)
5g.137639047C>GCA446561049KLHL3c.1125G>C (p.Thr375=)
n.712G>C
c.*335-10610G>C (n.*335-10610G>C)
c.1005G>C (p.Thr335=)
c.879G>C (p.Thr293=)
n.750G>C
c.1029G>C (p.Thr343=)
5g.137639047C>TCA3422285KLHL3c.1125G>A (p.Thr375=)
n.712G>A
c.*335-10610G>A (n.*335-10610G>A)
c.1005G>A (p.Thr335=)
c.879G>A (p.Thr293=)
n.750G>A
c.1029G>A (p.Thr343=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.137639048G>ACA3422286KLHL3c.1124C>T (p.Thr375Met)
n.711C>T
c.*335-10611C>T (n.*335-10611C>T)
c.1004C>T (p.Thr335Met)
c.878C>T (p.Thr293Met)
n.749C>T
c.1028C>T (p.Thr343Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639048G>CCA361048077KLHL3c.1124C>G (p.Thr375Arg)
n.711C>G
c.*335-10611C>G (n.*335-10611C>G)
c.1004C>G (p.Thr335Arg)
c.878C>G (p.Thr293Arg)
n.749C>G
c.1028C>G (p.Thr343Arg)
5g.137639048G=CA1585497585KLHL3c.1124C= (p.Thr375=)
n.711C=
c.*335-10611C= (n.*335-10611C=)
c.1004C= (p.Thr335=)
c.878C= (p.Thr293=)
n.749C=
c.1028C= (p.Thr343=)
5g.137639048G>TCA361048079KLHL3c.1124C>A (p.Thr375Lys)
n.711C>A
c.*335-10611C>A (n.*335-10611C>A)
c.1004C>A (p.Thr335Lys)
c.878C>A (p.Thr293Lys)
n.749C>A
c.1028C>A (p.Thr343Lys)
5g.137639049T>ACA361048082KLHL3c.1123A>T (p.Thr375Ser)
n.710A>T
c.*335-10612A>T (n.*335-10612A>T)
c.1003A>T (p.Thr335Ser)
c.877A>T (p.Thr293Ser)
n.748A>T
c.1027A>T (p.Thr343Ser)
5g.137639049T>CCA361048084KLHL3c.1123A>G (p.Thr375Ala)
n.710A>G
c.*335-10612A>G (n.*335-10612A>G)
c.1003A>G (p.Thr335Ala)
c.877A>G (p.Thr293Ala)
n.748A>G
c.1027A>G (p.Thr343Ala)
 gnomAD v4
5g.137639049T>GCA361048085KLHL3c.1123A>C (p.Thr375Pro)
n.710A>C
c.*335-10612A>C (n.*335-10612A>C)
c.1003A>C (p.Thr335Pro)
c.877A>C (p.Thr293Pro)
n.748A>C
c.1027A>C (p.Thr343Pro)
5g.137639050C>ACA361048088KLHL3c.1122G>T (p.Trp374Cys)
n.709G>T
c.*335-10613G>T (n.*335-10613G>T)
c.1002G>T (p.Trp334Cys)
c.876G>T (p.Trp292Cys)
n.747G>T
c.1026G>T (p.Trp342Cys)
5g.137639050C>GCA361048090KLHL3c.1122G>C (p.Trp374Cys)
n.709G>C
c.*335-10613G>C (n.*335-10613G>C)
c.1002G>C (p.Trp334Cys)
c.876G>C (p.Trp292Cys)
n.747G>C
c.1026G>C (p.Trp342Cys)
5g.137639050C>TCA361048092KLHL3c.1122G>A (p.Trp374Ter)
n.709G>A
c.*335-10613G>A (n.*335-10613G>A)
c.1002G>A (p.Trp334Ter)
c.876G>A (p.Trp292Ter)
n.747G>A
c.1026G>A (p.Trp342Ter)
5g.137639051C>ACA361048095KLHL3c.1121G>T (p.Trp374Leu)
n.708G>T
c.*335-10614G>T (n.*335-10614G>T)
c.1001G>T (p.Trp334Leu)
c.875G>T (p.Trp292Leu)
n.746G>T
c.1025G>T (p.Trp342Leu)
5g.137639051C>GCA361048096KLHL3c.1121G>C (p.Trp374Ser)
n.708G>C
c.*335-10614G>C (n.*335-10614G>C)
c.1001G>C (p.Trp334Ser)
c.875G>C (p.Trp292Ser)
n.746G>C
c.1025G>C (p.Trp342Ser)
5g.137639051C>TCA361048098KLHL3c.1121G>A (p.Trp374Ter)
n.708G>A
c.*335-10614G>A (n.*335-10614G>A)
c.1001G>A (p.Trp334Ter)
c.875G>A (p.Trp292Ter)
n.746G>A
c.1025G>A (p.Trp342Ter)
5g.137639052A>CCA361048106KLHL3c.1120T>G (p.Trp374Gly)
n.707T>G
c.*335-10615T>G (n.*335-10615T>G)
c.1000T>G (p.Trp334Gly)
c.874T>G (p.Trp292Gly)
n.745T>G
c.1024T>G (p.Trp342Gly)
5g.137639052A>GCA361048099KLHL3c.1120T>C (p.Trp374Arg)
n.707T>C
c.*335-10615T>C (n.*335-10615T>C)
c.1000T>C (p.Trp334Arg)
c.874T>C (p.Trp292Arg)
n.745T>C
c.1024T>C (p.Trp342Arg)
5g.137639052A>TCA361048101KLHL3c.1120T>A (p.Trp374Arg)
n.707T>A
c.*335-10615T>A (n.*335-10615T>A)
c.1000T>A (p.Trp334Arg)
c.874T>A (p.Trp292Arg)
n.745T>A
c.1024T>A (p.Trp342Arg)
5g.137639053C>ACA361048108KLHL3c.1119G>T (p.Gln373His)
n.706G>T
c.*335-10616G>T (n.*335-10616G>T)
c.999G>T (p.Gln333His)
c.873G>T (p.Gln291His)
n.744G>T
c.1023G>T (p.Gln341His)
5g.137639053C=CA1585497588KLHL3c.1119G= (p.Gln373=)
n.706G=
c.*335-10616G= (n.*335-10616G=)
c.999G= (p.Gln333=)
c.873G= (p.Gln291=)
n.744G=
c.1023G= (p.Gln341=)
5g.137639053C>GCA361048109KLHL3c.1119G>C (p.Gln373His)
n.706G>C
c.*335-10616G>C (n.*335-10616G>C)
c.999G>C (p.Gln333His)
c.873G>C (p.Gln291His)
n.744G>C
c.1023G>C (p.Gln341His)
 dbSNP gnomAD v2 gnomAD v4
5g.137639053C>TCA446561055KLHL3c.1119G>A (p.Gln373=)
n.706G>A
c.*335-10616G>A (n.*335-10616G>A)
c.999G>A (p.Gln333=)
c.873G>A (p.Gln291=)
n.744G>A
c.1023G>A (p.Gln341=)
5g.137639054T>ACA128103906KLHL3c.1118A>T (p.Gln373Leu)
n.705A>T
c.*335-10617A>T (n.*335-10617A>T)
c.998A>T (p.Gln333Leu)
c.872A>T (p.Gln291Leu)
n.743A>T
c.1022A>T (p.Gln341Leu)
 dbSNP gnomAD v4
5g.137639054T>CCA3422287KLHL3c.1118A>G (p.Gln373Arg)
n.705A>G
c.*335-10617A>G (n.*335-10617A>G)
c.998A>G (p.Gln333Arg)
c.872A>G (p.Gln291Arg)
n.743A>G
c.1022A>G (p.Gln341Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639054T>GCA361048114KLHL3c.1118A>C (p.Gln373Pro)
n.705A>C
c.*335-10617A>C (n.*335-10617A>C)
c.998A>C (p.Gln333Pro)
c.872A>C (p.Gln291Pro)
n.743A>C
c.1022A>C (p.Gln341Pro)
5g.137639054T=CA1585497595KLHL3c.1118A= (p.Gln373=)
n.705A=
c.*335-10617A= (n.*335-10617A=)
c.998A= (p.Gln333=)
c.872A= (p.Gln291=)
n.743A=
c.1022A= (p.Gln341=)
5g.137639055G>ACA361048116KLHL3c.1117C>T (p.Gln373Ter)
n.704C>T
c.*335-10618C>T (n.*335-10618C>T)
c.997C>T (p.Gln333Ter)
c.871C>T (p.Gln291Ter)
n.742C>T
c.1021C>T (p.Gln341Ter)
5g.137639055G>CCA361048118KLHL3c.1117C>G (p.Gln373Glu)
n.704C>G
c.*335-10618C>G (n.*335-10618C>G)
c.997C>G (p.Gln333Glu)
c.871C>G (p.Gln291Glu)
n.742C>G
c.1021C>G (p.Gln341Glu)
 dbSNP gnomAD v4
5g.137639055G=CA1585497601KLHL3c.1117C= (p.Gln373=)
n.704C=
c.*335-10618C= (n.*335-10618C=)
c.997C= (p.Gln333=)
c.871C= (p.Gln291=)
n.742C=
c.1021C= (p.Gln341=)
5g.137639055G>TCA361048119KLHL3c.1117C>A (p.Gln373Lys)
n.704C>A
c.*335-10618C>A (n.*335-10618C>A)
c.997C>A (p.Gln333Lys)
c.871C>A (p.Gln291Lys)
n.742C>A
c.1021C>A (p.Gln341Lys)
5g.137639056G>ACA3422288KLHL3c.1116C>T (p.Asp372=)
n.703C>T
c.*335-10619C>T (n.*335-10619C>T)
c.996C>T (p.Asp332=)
c.870C>T (p.Asp290=)
n.741C>T
c.1020C>T (p.Asp340=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639056G>CCA361048122KLHL3c.1116C>G (p.Asp372Glu)
n.703C>G
c.*335-10619C>G (n.*335-10619C>G)
c.996C>G (p.Asp332Glu)
c.870C>G (p.Asp290Glu)
n.741C>G
c.1020C>G (p.Asp340Glu)
 dbSNP gnomAD v3 gnomAD v4
5g.137639056G=CA1585497604KLHL3c.1116C= (p.Asp372=)
n.703C=
c.*335-10619C= (n.*335-10619C=)
c.996C= (p.Asp332=)
c.870C= (p.Asp290=)
n.741C=
c.1020C= (p.Asp340=)
5g.137639056G>TCA361048126KLHL3c.1116C>A (p.Asp372Glu)
n.703C>A
c.*335-10619C>A (n.*335-10619C>A)
c.996C>A (p.Asp332Glu)
c.870C>A (p.Asp290Glu)
n.741C>A
c.1020C>A (p.Asp340Glu)
5g.137639057T>ACA361048132KLHL3c.1115A>T (p.Asp372Val)
n.702A>T
c.*335-10620A>T (n.*335-10620A>T)
c.995A>T (p.Asp332Val)
c.869A>T (p.Asp290Val)
n.740A>T
c.1019A>T (p.Asp340Val)
5g.137639057T>CCA361048128KLHL3c.1115A>G (p.Asp372Gly)
n.702A>G
c.*335-10620A>G (n.*335-10620A>G)
c.995A>G (p.Asp332Gly)
c.869A>G (p.Asp290Gly)
n.740A>G
c.1019A>G (p.Asp340Gly)
5g.137639057T>GCA361048129KLHL3c.1115A>C (p.Asp372Ala)
n.702A>C
c.*335-10620A>C (n.*335-10620A>C)
c.995A>C (p.Asp332Ala)
c.869A>C (p.Asp290Ala)
n.740A>C
c.1019A>C (p.Asp340Ala)
5g.137639058C>ACA361048134KLHL3c.1114G>T (p.Asp372Tyr)
n.701G>T
c.*335-10621G>T (n.*335-10621G>T)
c.994G>T (p.Asp332Tyr)
c.868G>T (p.Asp290Tyr)
n.739G>T
c.1018G>T (p.Asp340Tyr)
 gnomAD v4
5g.137639058C=CA1585497609KLHL3c.1114G= (p.Asp372=)
n.701G=
c.*335-10621G= (n.*335-10621G=)
c.994G= (p.Asp332=)
c.868G= (p.Asp290=)
n.739G=
c.1018G= (p.Asp340=)
5g.137639058C>GCA361048138KLHL3c.1114G>C (p.Asp372His)
n.701G>C
c.*335-10621G>C (n.*335-10621G>C)
c.994G>C (p.Asp332His)
c.868G>C (p.Asp290His)
n.739G>C
c.1018G>C (p.Asp340His)
5g.137639058C>TCA361048136KLHL3c.1114G>A (p.Asp372Asn)
n.701G>A
c.*335-10621G>A (n.*335-10621G>A)
c.994G>A (p.Asp332Asn)
c.868G>A (p.Asp290Asn)
n.739G>A
c.1018G>A (p.Asp340Asn)
 ClinVar dbSNP COSMIC
5g.137639059C>ACA361048140KLHL3c.1113G>T (p.Lys371Asn)
n.700G>T
c.*335-10622G>T (n.*335-10622G>T)
c.993G>T (p.Lys331Asn)
c.867G>T (p.Lys289Asn)
n.738G>T
c.1017G>T (p.Lys339Asn)
5g.137639059C>GCA361048143KLHL3c.1113G>C (p.Lys371Asn)
n.700G>C
c.*335-10622G>C (n.*335-10622G>C)
c.993G>C (p.Lys331Asn)
c.867G>C (p.Lys289Asn)
n.738G>C
c.1017G>C (p.Lys339Asn)
5g.137639059C>TCA446561058KLHL3c.1113G>A (p.Lys371=)
n.700G>A
c.*335-10622G>A (n.*335-10622G>A)
c.993G>A (p.Lys331=)
c.867G>A (p.Lys289=)
n.738G>A
c.1017G>A (p.Lys339=)
5g.137639060T>ACA361048145KLHL3c.1112A>T (p.Lys371Met)
n.699A>T
c.*335-10623A>T (n.*335-10623A>T)
c.992A>T (p.Lys331Met)
c.866A>T (p.Lys289Met)
n.737A>T
c.1016A>T (p.Lys339Met)
5g.137639060T>CCA361048147KLHL3c.1112A>G (p.Lys371Arg)
n.699A>G
c.*335-10623A>G (n.*335-10623A>G)
c.992A>G (p.Lys331Arg)
c.866A>G (p.Lys289Arg)
n.737A>G
c.1016A>G (p.Lys339Arg)
5g.137639060T>GCA361048149KLHL3c.1112A>C (p.Lys371Thr)
n.699A>C
c.*335-10623A>C (n.*335-10623A>C)
c.992A>C (p.Lys331Thr)
c.866A>C (p.Lys289Thr)
n.737A>C
c.1016A>C (p.Lys339Thr)
5g.137639061T>ACA361048151KLHL3c.1111A>T (p.Lys371Ter)
n.698A>T
c.*335-10624A>T (n.*335-10624A>T)
c.991A>T (p.Lys331Ter)
c.865A>T (p.Lys289Ter)
n.736A>T
c.1015A>T (p.Lys339Ter)
5g.137639061T>CCA361048153KLHL3c.1111A>G (p.Lys371Glu)
n.698A>G
c.*335-10624A>G (n.*335-10624A>G)
c.991A>G (p.Lys331Glu)
c.865A>G (p.Lys289Glu)
n.736A>G
c.1015A>G (p.Lys339Glu)
5g.137639061T>GCA361048155KLHL3c.1111A>C (p.Lys371Gln)
n.698A>C
c.*335-10624A>C (n.*335-10624A>C)
c.991A>C (p.Lys331Gln)
c.865A>C (p.Lys289Gln)
n.736A>C
c.1015A>C (p.Lys339Gln)
5g.137639062C>ACA446561060KLHL3c.1110G>T (p.Val370=)
n.697G>T
c.*335-10625G>T (n.*335-10625G>T)
c.990G>T (p.Val330=)
c.864G>T (p.Val288=)
n.735G>T
c.1014G>T (p.Val338=)
5g.137639062C>GCA446561061KLHL3c.1110G>C (p.Val370=)
n.697G>C
c.*335-10625G>C (n.*335-10625G>C)
c.990G>C (p.Val330=)
c.864G>C (p.Val288=)
n.735G>C
c.1014G>C (p.Val338=)
5g.137639062C>TCA446561063KLHL3c.1110G>A (p.Val370=)
n.697G>A
c.*335-10625G>A (n.*335-10625G>A)
c.990G>A (p.Val330=)
c.864G>A (p.Val288=)
n.735G>A
c.1014G>A (p.Val338=)
5g.137639063A>CCA361048157KLHL3c.1109T>G (p.Val370Gly)
n.696T>G
c.*335-10626T>G (n.*335-10626T>G)
c.989T>G (p.Val330Gly)
c.863T>G (p.Val288Gly)
n.734T>G
c.1013T>G (p.Val338Gly)
5g.137639063A>GCA361048159KLHL3c.1109T>C (p.Val370Ala)
n.696T>C
c.*335-10626T>C (n.*335-10626T>C)
c.989T>C (p.Val330Ala)
c.863T>C (p.Val288Ala)
n.734T>C
c.1013T>C (p.Val338Ala)
5g.137639063A>TCA361048161KLHL3c.1109T>A (p.Val370Glu)
n.696T>A
c.*335-10626T>A (n.*335-10626T>A)
c.989T>A (p.Val330Glu)
c.863T>A (p.Val288Glu)
n.734T>A
c.1013T>A (p.Val338Glu)
5g.137639064C>ACA361048163KLHL3c.1108G>T (p.Val370Leu)
n.695G>T
c.*335-10627G>T (n.*335-10627G>T)
c.988G>T (p.Val330Leu)
c.862G>T (p.Val288Leu)
n.733G>T
c.1012G>T (p.Val338Leu)
 gnomAD v4
5g.137639064C=CA1585497619KLHL3c.1108G= (p.Val370=)
n.695G=
c.*335-10627G= (n.*335-10627G=)
c.988G= (p.Val330=)
c.862G= (p.Val288=)
n.733G=
c.1012G= (p.Val338=)
5g.137639064C>GCA361048165KLHL3c.1108G>C (p.Val370Leu)
n.695G>C
c.*335-10627G>C (n.*335-10627G>C)
c.988G>C (p.Val330Leu)
c.862G>C (p.Val288Leu)
n.733G>C
c.1012G>C (p.Val338Leu)
 gnomAD v4
5g.137639064C>TCA3422289KLHL3c.1108G>A (p.Val370Met)
n.695G>A
c.*335-10627G>A (n.*335-10627G>A)
c.988G>A (p.Val330Met)
c.862G>A (p.Val288Met)
n.733G>A
c.1012G>A (p.Val338Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639065G>ACA3422290KLHL3c.1107C>T (p.Gly369=)
n.694C>T
c.*335-10628C>T (n.*335-10628C>T)
c.987C>T (p.Gly329=)
c.861C>T (p.Gly287=)
n.732C>T
c.1011C>T (p.Gly337=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639065G>CCA446561067KLHL3c.1107C>G (p.Gly369=)
n.694C>G
c.*335-10628C>G (n.*335-10628C>G)
c.987C>G (p.Gly329=)
c.861C>G (p.Gly287=)
n.732C>G
c.1011C>G (p.Gly337=)
5g.137639065G=CA1585497622KLHL3c.1107C= (p.Gly369=)
n.694C=
c.*335-10628C= (n.*335-10628C=)
c.987C= (p.Gly329=)
c.861C= (p.Gly287=)
n.732C=
c.1011C= (p.Gly337=)
5g.137639065G>TCA446561069KLHL3c.1107C>A (p.Gly369=)
n.694C>A
c.*335-10628C>A (n.*335-10628C>A)
c.987C>A (p.Gly329=)
c.861C>A (p.Gly287=)
n.732C>A
c.1011C>A (p.Gly337=)
5g.137639066C>ACA128103916KLHL3c.1106G>T (p.Gly369Val)
n.693G>T
c.*335-10629G>T (n.*335-10629G>T)
c.986G>T (p.Gly329Val)
c.860G>T (p.Gly287Val)
n.731G>T
c.1010G>T (p.Gly337Val)
 dbSNP
5g.137639066C=CA1585497626KLHL3c.1106G= (p.Gly369=)
n.693G=
c.*335-10629G= (n.*335-10629G=)
c.986G= (p.Gly329=)
c.860G= (p.Gly287=)
n.731G=
c.1010G= (p.Gly337=)
5g.137639066C>GCA361048169KLHL3c.1106G>C (p.Gly369Ala)
n.693G>C
c.*335-10629G>C (n.*335-10629G>C)
c.986G>C (p.Gly329Ala)
c.860G>C (p.Gly287Ala)
n.731G>C
c.1010G>C (p.Gly337Ala)
5g.137639066C>TCA361048171KLHL3c.1106G>A (p.Gly369Asp)
n.693G>A
c.*335-10629G>A (n.*335-10629G>A)
c.986G>A (p.Gly329Asp)
c.860G>A (p.Gly287Asp)
n.731G>A
c.1010G>A (p.Gly337Asp)
 gnomAD v4
5g.137639067C>ACA361048173KLHL3c.1105G>T (p.Gly369Cys)
n.692G>T
c.*335-10630G>T (n.*335-10630G>T)
c.985G>T (p.Gly329Cys)
c.859G>T (p.Gly287Cys)
n.730G>T
c.1009G>T (p.Gly337Cys)
5g.137639067C=CA1585497628KLHL3c.1105G= (p.Gly369=)
n.692G=
c.*335-10630G= (n.*335-10630G=)
c.985G= (p.Gly329=)
c.859G= (p.Gly287=)
n.730G=
c.1009G= (p.Gly337=)
5g.137639067C>GCA361048174KLHL3c.1105G>C (p.Gly369Arg)
n.692G>C
c.*335-10630G>C (n.*335-10630G>C)
c.985G>C (p.Gly329Arg)
c.859G>C (p.Gly287Arg)
n.730G>C
c.1009G>C (p.Gly337Arg)
5g.137639067C>TCA3422291KLHL3c.1105G>A (p.Gly369Ser)
n.692G>A
c.*335-10630G>A (n.*335-10630G>A)
c.985G>A (p.Gly329Ser)
c.859G>A (p.Gly287Ser)
n.730G>A
c.1009G>A (p.Gly337Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639068G>ACA3422292KLHL3c.1104C>T (p.Asp368=)
n.691C>T
c.*335-10631C>T (n.*335-10631C>T)
c.984C>T (p.Asp328=)
c.858C>T (p.Asp286=)
n.729C>T
c.1008C>T (p.Asp336=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.137639068G>CCA361048178KLHL3c.1104C>G (p.Asp368Glu)
n.691C>G
c.*335-10631C>G (n.*335-10631C>G)
c.984C>G (p.Asp328Glu)
c.858C>G (p.Asp286Glu)
n.729C>G
c.1008C>G (p.Asp336Glu)
 gnomAD v4
5g.137639068G=CA1585497632KLHL3c.1104C= (p.Asp368=)
n.691C=
c.*335-10631C= (n.*335-10631C=)
c.984C= (p.Asp328=)
c.858C= (p.Asp286=)
n.729C=
c.1008C= (p.Asp336=)
5g.137639068G>TCA361048180KLHL3c.1104C>A (p.Asp368Glu)
n.691C>A
c.*335-10631C>A (n.*335-10631C>A)
c.984C>A (p.Asp328Glu)
c.858C>A (p.Asp286Glu)
n.729C>A
c.1008C>A (p.Asp336Glu)
 dbSNP
5g.137639069T>ACA361048181KLHL3c.1103A>T (p.Asp368Val)
n.690A>T
c.*335-10632A>T (n.*335-10632A>T)
c.983A>T (p.Asp328Val)
c.857A>T (p.Asp286Val)
n.728A>T
c.1007A>T (p.Asp336Val)
5g.137639069T>CCA361048182KLHL3c.1103A>G (p.Asp368Gly)
n.690A>G
c.*335-10632A>G (n.*335-10632A>G)
c.983A>G (p.Asp328Gly)
c.857A>G (p.Asp286Gly)
n.728A>G
c.1007A>G (p.Asp336Gly)
5g.137639069T>GCA361048183KLHL3c.1103A>C (p.Asp368Ala)
n.690A>C
c.*335-10632A>C (n.*335-10632A>C)
c.983A>C (p.Asp328Ala)
c.857A>C (p.Asp286Ala)
n.728A>C
c.1007A>C (p.Asp336Ala)
5g.137639070C>ACA361048184KLHL3c.1102G>T (p.Asp368Tyr)
n.689G>T
c.*335-10633G>T (n.*335-10633G>T)
c.982G>T (p.Asp328Tyr)
c.856G>T (p.Asp286Tyr)
n.727G>T
c.1006G>T (p.Asp336Tyr)
5g.137639070C=CA1585497634KLHL3c.1102G= (p.Asp368=)
n.689G=
c.*335-10633G= (n.*335-10633G=)
c.982G= (p.Asp328=)
c.856G= (p.Asp286=)
n.727G=
c.1006G= (p.Asp336=)
5g.137639070C>GCA361048186KLHL3c.1102G>C (p.Asp368His)
n.689G>C
c.*335-10633G>C (n.*335-10633G>C)
c.982G>C (p.Asp328His)
c.856G>C (p.Asp286His)
n.727G>C
c.1006G>C (p.Asp336His)
5g.137639070C>TCA3422293KLHL3c.1102G>A (p.Asp368Asn)
n.689G>A
c.*335-10633G>A (n.*335-10633G>A)
c.982G>A (p.Asp328Asn)
c.856G>A (p.Asp286Asn)
n.727G>A
c.1006G>A (p.Asp336Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137639071A=CA1585497637KLHL3c.1101T= (p.Tyr367=)
n.688T=
c.*335-10634T= (n.*335-10634T=)
c.981T= (p.Tyr327=)
c.855T= (p.Tyr285=)
n.726T=
c.1005T= (p.Tyr335=)
5g.137639071A>CCA361048188KLHL3c.1101T>G (p.Tyr367Ter)
n.688T>G
c.*335-10634T>G (n.*335-10634T>G)
c.981T>G (p.Tyr327Ter)
c.855T>G (p.Tyr285Ter)
n.726T>G
c.1005T>G (p.Tyr335Ter)
5g.137639071A>GCA446561074KLHL3c.1101T>C (p.Tyr367=)
n.688T>C
c.*335-10634T>C (n.*335-10634T>C)
c.981T>C (p.Tyr327=)
c.855T>C (p.Tyr285=)
n.726T>C
c.1005T>C (p.Tyr335=)
 dbSNP gnomAD v4
5g.137639071A>TCA361048189KLHL3c.1101T>A (p.Tyr367Ter)
n.688T>A
c.*335-10634T>A (n.*335-10634T>A)
c.981T>A (p.Tyr327Ter)
c.855T>A (p.Tyr285Ter)
n.726T>A
c.1005T>A (p.Tyr335Ter)
5g.137639072T>ACA361048190KLHL3c.1100A>T (p.Tyr367Phe)
n.687A>T
c.*335-10635A>T (n.*335-10635A>T)
c.980A>T (p.Tyr327Phe)
c.854A>T (p.Tyr285Phe)
n.725A>T
c.1004A>T (p.Tyr335Phe)
5g.137639072T>CCA361048191KLHL3c.1100A>G (p.Tyr367Cys)
n.687A>G
c.*335-10635A>G (n.*335-10635A>G)
c.980A>G (p.Tyr327Cys)
c.854A>G (p.Tyr285Cys)
n.725A>G
c.1004A>G (p.Tyr335Cys)
5g.137639072T>GCA361048192KLHL3c.1100A>C (p.Tyr367Ser)
n.687A>C
c.*335-10635A>C (n.*335-10635A>C)
c.980A>C (p.Tyr327Ser)
c.854A>C (p.Tyr285Ser)
n.725A>C
c.1004A>C (p.Tyr335Ser)
5g.137639073A>CCA361048198KLHL3c.1099T>G (p.Tyr367Asp)
n.686T>G
c.*335-10636T>G (n.*335-10636T>G)
c.979T>G (p.Tyr327Asp)
c.853T>G (p.Tyr285Asp)
n.724T>G
c.1003T>G (p.Tyr335Asp)
5g.137639073A>GCA361048197KLHL3c.1099T>C (p.Tyr367His)
n.686T>C
c.*335-10636T>C (n.*335-10636T>C)
c.979T>C (p.Tyr327His)
c.853T>C (p.Tyr285His)
n.724T>C
c.1003T>C (p.Tyr335His)
5g.137639073A>TCA361048195KLHL3c.1099T>A (p.Tyr367Asn)
n.686T>A
c.*335-10636T>A (n.*335-10636T>A)
c.979T>A (p.Tyr327Asn)
c.853T>A (p.Tyr285Asn)
n.724T>A
c.1003T>A (p.Tyr335Asn)
5g.137639074C>ACA446561080KLHL3c.1098G>T (p.Val366=)
n.685G>T
c.*335-10637G>T (n.*335-10637G>T)
c.978G>T (p.Val326=)
c.852G>T (p.Val284=)
n.723G>T
c.1002G>T (p.Val334=)
5g.137639074C=CA1585497639KLHL3c.1098G= (p.Val366=)
n.685G=
c.*335-10637G= (n.*335-10637G=)
c.978G= (p.Val326=)
c.852G= (p.Val284=)
n.723G=
c.1002G= (p.Val334=)
5g.137639074C>GCA446561079KLHL3c.1098G>C (p.Val366=)
n.685G>C
c.*335-10637G>C (n.*335-10637G>C)
c.978G>C (p.Val326=)
c.852G>C (p.Val284=)
n.723G>C
c.1002G>C (p.Val334=)
 gnomAD v4
5g.137639074C>TCA446561077KLHL3c.1098G>A (p.Val366=)
n.685G>A
c.*335-10637G>A (n.*335-10637G>A)
c.978G>A (p.Val326=)
c.852G>A (p.Val284=)
n.723G>A
c.1002G>A (p.Val334=)
 dbSNP
5g.137639075A>CCA361048200KLHL3c.1097T>G (p.Val366Gly)
n.684T>G
c.*335-10638T>G (n.*335-10638T>G)
c.977T>G (p.Val326Gly)
c.851T>G (p.Val284Gly)
n.722T>G
c.1001T>G (p.Val334Gly)
5g.137639075A>GCA361048202KLHL3c.1097T>C (p.Val366Ala)
n.684T>C
c.*335-10638T>C (n.*335-10638T>C)
c.977T>C (p.Val326Ala)
c.851T>C (p.Val284Ala)
n.722T>C
c.1001T>C (p.Val334Ala)
5g.137639075A>TCA361048204KLHL3c.1097T>A (p.Val366Glu)
n.684T>A
c.*335-10638T>A (n.*335-10638T>A)
c.977T>A (p.Val326Glu)
c.851T>A (p.Val284Glu)
n.722T>A
c.1001T>A (p.Val334Glu)
5g.137639076C>ACA361048206KLHL3c.1096G>T (p.Val366Leu)
n.683G>T
c.*335-10639G>T (n.*335-10639G>T)
c.976G>T (p.Val326Leu)
c.850G>T (p.Val284Leu)
n.721G>T
c.1000G>T (p.Val334Leu)
5g.137639076C=CA1585497642KLHL3c.1096G= (p.Val366=)
n.683G=
c.*335-10639G= (n.*335-10639G=)
c.976G= (p.Val326=)
c.850G= (p.Val284=)
n.721G=
c.1000G= (p.Val334=)
5g.137639076C>GCA361048207KLHL3c.1096G>C (p.Val366Leu)
n.683G>C
c.*335-10639G>C (n.*335-10639G>C)
c.976G>C (p.Val326Leu)
c.850G>C (p.Val284Leu)
n.721G>C
c.1000G>C (p.Val334Leu)
5g.137639076C>TCA361048210KLHL3c.1096G>A (p.Val366Met)
n.683G>A
c.*335-10639G>A (n.*335-10639G>A)
c.976G>A (p.Val326Met)
c.850G>A (p.Val284Met)
n.721G>A
c.1000G>A (p.Val334Met)
 dbSNP gnomAD v4
5g.137639077A=CA1585497644KLHL3c.1095T= (p.Asp365=)
n.682T=
c.*335-10640T= (n.*335-10640T=)
c.975T= (p.Asp325=)
c.849T= (p.Asp283=)
n.720T=
c.999T= (p.Asp333=)
5g.137639077A>CCA361048212KLHL3c.1095T>G (p.Asp365Glu)
n.682T>G
c.*335-10640T>G (n.*335-10640T>G)
c.975T>G (p.Asp325Glu)
c.849T>G (p.Asp283Glu)
n.720T>G
c.999T>G (p.Asp333Glu)
5g.137639077A>GCA3422294KLHL3c.1095T>C (p.Asp365=)
n.682T>C
c.*335-10640T>C (n.*335-10640T>C)
c.975T>C (p.Asp325=)
c.849T>C (p.Asp283=)
n.720T>C
c.999T>C (p.Asp333=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137639077A>TCA361048214KLHL3c.1095T>A (p.Asp365Glu)
n.682T>A
c.*335-10640T>A (n.*335-10640T>A)
c.975T>A (p.Asp325Glu)
c.849T>A (p.Asp283Glu)
n.720T>A
c.999T>A (p.Asp333Glu)
5g.137639078T>ACA361048216KLHL3c.1094A>T (p.Asp365Val)
n.681A>T
c.*335-10641A>T (n.*335-10641A>T)
c.974A>T (p.Asp325Val)
c.848A>T (p.Asp283Val)
n.719A>T
c.998A>T (p.Asp333Val)
5g.137639078T>CCA361048218KLHL3c.1094A>G (p.Asp365Gly)
n.681A>G
c.*335-10641A>G (n.*335-10641A>G)
c.974A>G (p.Asp325Gly)
c.848A>G (p.Asp283Gly)
n.719A>G
c.998A>G (p.Asp333Gly)
5g.137639078T>GCA361048220KLHL3c.1094A>C (p.Asp365Ala)
n.681A>C
c.*335-10641A>C (n.*335-10641A>C)
c.974A>C (p.Asp325Ala)
c.848A>C (p.Asp283Ala)
n.719A>C
c.998A>C (p.Asp333Ala)
5g.137639079C>ACA361048222KLHL3c.1093G>T (p.Asp365Tyr)
n.680G>T
c.*335-10642G>T (n.*335-10642G>T)
c.973G>T (p.Asp325Tyr)
c.847G>T (p.Asp283Tyr)
n.718G>T
c.997G>T (p.Asp333Tyr)
5g.137639079C>GCA361048224KLHL3c.1093G>C (p.Asp365His)
n.680G>C
c.*335-10642G>C (n.*335-10642G>C)
c.973G>C (p.Asp325His)
c.847G>C (p.Asp283His)
n.718G>C
c.997G>C (p.Asp333His)
5g.137639079C>TCA361048226KLHL3c.1093G>A (p.Asp365Asn)
n.680G>A
c.*335-10642G>A (n.*335-10642G>A)
c.973G>A (p.Asp325Asn)
c.847G>A (p.Asp283Asn)
n.718G>A
c.997G>A (p.Asp333Asn)
5g.137639080C>ACA446561082KLHL3c.1092G>T (p.Val364=)
n.679G>T
c.*335-10643G>T (n.*335-10643G>T)
c.972G>T (p.Val324=)
c.846G>T (p.Val282=)
n.717G>T
c.996G>T (p.Val332=)
5g.137639080C>GCA446561084KLHL3c.1092G>C (p.Val364=)
n.679G>C
c.*335-10643G>C (n.*335-10643G>C)
c.972G>C (p.Val324=)
c.846G>C (p.Val282=)
n.717G>C
c.996G>C (p.Val332=)
5g.137639080C>TCA446561085KLHL3c.1092G>A (p.Val364=)
n.679G>A
c.*335-10643G>A (n.*335-10643G>A)
c.972G>A (p.Val324=)
c.846G>A (p.Val282=)
n.717G>A
c.996G>A (p.Val332=)
5g.137639081A>CCA361048229KLHL3c.1091T>G (p.Val364Gly)
n.678T>G
c.*335-10644T>G (n.*335-10644T>G)
c.971T>G (p.Val324Gly)
c.845T>G (p.Val282Gly)
n.716T>G
c.995T>G (p.Val332Gly)
5g.137639081A>GCA361048231KLHL3c.1091T>C (p.Val364Ala)
n.678T>C
c.*335-10644T>C (n.*335-10644T>C)
c.971T>C (p.Val324Ala)
c.845T>C (p.Val282Ala)
n.716T>C
c.995T>C (p.Val332Ala)
5g.137639081A>TCA361048233KLHL3c.1091T>A (p.Val364Glu)
n.678T>A
c.*335-10644T>A (n.*335-10644T>A)
c.971T>A (p.Val324Glu)
c.845T>A (p.Val282Glu)
n.716T>A
c.995T>A (p.Val332Glu)
5g.137639082C>ACA361048234KLHL3c.1090G>T (p.Val364Leu)
n.677G>T
c.*335-10645G>T (n.*335-10645G>T)
c.970G>T (p.Val324Leu)
c.844G>T (p.Val282Leu)
n.715G>T
c.994G>T (p.Val332Leu)
5g.137639082C>GCA361048235KLHL3c.1090G>C (p.Val364Leu)
n.677G>C
c.*335-10645G>C (n.*335-10645G>C)
c.970G>C (p.Val324Leu)
c.844G>C (p.Val282Leu)
n.715G>C
c.994G>C (p.Val332Leu)
5g.137639082C>TCA361048237KLHL3c.1090G>A (p.Val364Met)
n.677G>A
c.*335-10645G>A (n.*335-10645G>A)
c.970G>A (p.Val324Met)
c.844G>A (p.Val282Met)
n.715G>A
c.994G>A (p.Val332Met)
5g.137639083T>ACA446561086KLHL3c.1089A>T (p.Thr363=)
n.676A>T
c.*335-10646A>T (n.*335-10646A>T)
c.969A>T (p.Thr323=)
c.843A>T (p.Thr281=)
n.714A>T
c.993A>T (p.Thr331=)
5g.137639083T>CCA128103919KLHL3c.1089A>G (p.Thr363=)
n.676A>G
c.*335-10646A>G (n.*335-10646A>G)
c.969A>G (p.Thr323=)
c.843A>G (p.Thr281=)
n.714A>G
c.993A>G (p.Thr331=)
 dbSNP gnomAD v3 gnomAD v4
5g.137639083T>GCA446561088KLHL3c.1089A>C (p.Thr363=)
n.676A>C
c.*335-10646A>C (n.*335-10646A>C)
c.969A>C (p.Thr323=)
c.843A>C (p.Thr281=)
n.714A>C
c.993A>C (p.Thr331=)
5g.137639083T=CA1585497650KLHL3c.1089A= (p.Thr363=)
n.676A=
c.*335-10646A= (n.*335-10646A=)
c.969A= (p.Thr323=)
c.843A= (p.Thr281=)
n.714A=
c.993A= (p.Thr331=)
5g.137639084G>ACA361048241KLHL3c.1088C>T (p.Thr363Ile)
n.675C>T
c.*335-10647C>T (n.*335-10647C>T)
c.968C>T (p.Thr323Ile)
c.842C>T (p.Thr281Ile)
n.713C>T
c.992C>T (p.Thr331Ile)
5g.137639084G>CCA361048239KLHL3c.1088C>G (p.Thr363Arg)
n.675C>G
c.*335-10647C>G (n.*335-10647C>G)
c.968C>G (p.Thr323Arg)
c.842C>G (p.Thr281Arg)
n.713C>G
c.992C>G (p.Thr331Arg)
5g.137639084G>TCA361048243KLHL3c.1088C>A (p.Thr363Lys)
n.675C>A
c.*335-10647C>A (n.*335-10647C>A)
c.968C>A (p.Thr323Lys)
c.842C>A (p.Thr281Lys)
n.713C>A
c.992C>A (p.Thr331Lys)
5g.137639085T>ACA361048245KLHL3c.1087A>T (p.Thr363Ser)
n.674A>T
c.*335-10648A>T (n.*335-10648A>T)
c.967A>T (p.Thr323Ser)
c.841A>T (p.Thr281Ser)
n.712A>T
c.991A>T (p.Thr331Ser)
5g.137639085T>CCA361048247KLHL3c.1087A>G (p.Thr363Ala)
n.674A>G
c.*335-10648A>G (n.*335-10648A>G)
c.967A>G (p.Thr323Ala)
c.841A>G (p.Thr281Ala)
n.712A>G
c.991A>G (p.Thr331Ala)
5g.137639085T>GCA361048249KLHL3c.1087A>C (p.Thr363Pro)
n.674A>C
c.*335-10648A>C (n.*335-10648A>C)
c.967A>C (p.Thr323Pro)
c.841A>C (p.Thr281Pro)
n.712A>C
c.991A>C (p.Thr331Pro)
5g.137639086C>ACA446561091KLHL3c.1086G>T (p.Arg362=)
n.673G>T
c.*335-10649G>T (n.*335-10649G>T)
c.966G>T (p.Arg322=)
c.840G>T (p.Arg280=)
n.711G>T
c.990G>T (p.Arg330=)
5g.137639086C>GCA446561093KLHL3c.1086G>C (p.Arg362=)
n.673G>C
c.*335-10649G>C (n.*335-10649G>C)
c.966G>C (p.Arg322=)
c.840G>C (p.Arg280=)
n.711G>C
c.990G>C (p.Arg330=)
5g.137639086C>TCA446561094KLHL3c.1086G>A (p.Arg362=)
n.673G>A
c.*335-10649G>A (n.*335-10649G>A)
c.966G>A (p.Arg322=)
c.840G>A (p.Arg280=)
n.711G>A
c.990G>A (p.Arg330=)
5g.137639087C>ACA361048251KLHL3c.1085G>T (p.Arg362Leu)
n.672G>T
c.*335-10650G>T (n.*335-10650G>T)
c.965G>T (p.Arg322Leu)
c.839G>T (p.Arg280Leu)
n.710G>T
c.989G>T (p.Arg330Leu)
5g.137639087C=CA1585497652KLHL3c.1085G= (p.Arg362=)
n.672G=
c.*335-10650G= (n.*335-10650G=)
c.965G= (p.Arg322=)
c.839G= (p.Arg280=)
n.710G=
c.989G= (p.Arg330=)
5g.137639087C>GCA361048253KLHL3c.1085G>C (p.Arg362Pro)
n.672G>C
c.*335-10650G>C (n.*335-10650G>C)
c.965G>C (p.Arg322Pro)
c.839G>C (p.Arg280Pro)
n.710G>C
c.989G>C (p.Arg330Pro)
5g.137639087C>TCA3422295KLHL3c.1085G>A (p.Arg362Gln)
n.672G>A
c.*335-10650G>A (n.*335-10650G>A)
c.965G>A (p.Arg322Gln)
c.839G>A (p.Arg280Gln)
n.710G>A
c.989G>A (p.Arg330Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.137639088G>ACA3422296KLHL3c.1084C>T (p.Arg362Trp)
n.671C>T
c.*335-10651C>T (n.*335-10651C>T)
c.964C>T (p.Arg322Trp)
c.838C>T (p.Arg280Trp)
n.709C>T
c.988C>T (p.Arg330Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639088G>CCA361048258KLHL3c.1084C>G (p.Arg362Gly)
n.671C>G
c.*335-10651C>G (n.*335-10651C>G)
c.964C>G (p.Arg322Gly)
c.838C>G (p.Arg280Gly)
n.709C>G
c.988C>G (p.Arg330Gly)
 gnomAD v4
5g.137639088G=CA1585497656KLHL3c.1084C= (p.Arg362=)
n.671C=
c.*335-10651C= (n.*335-10651C=)
c.964C= (p.Arg322=)
c.838C= (p.Arg280=)
n.709C=
c.988C= (p.Arg330=)
5g.137639088G>TCA446561095KLHL3c.1084C>A (p.Arg362=)
n.671C>A
c.*335-10651C>A (n.*335-10651C>A)
c.964C>A (p.Arg322=)
c.838C>A (p.Arg280=)
n.709C>A
c.988C>A (p.Arg330=)
 gnomAD v4
5g.137639089C>ACA446561097KLHL3c.1083G>T (p.Val361=)
n.670G>T
c.*335-10652G>T (n.*335-10652G>T)
c.963G>T (p.Val321=)
c.837G>T (p.Val279=)
n.708G>T
c.987G>T (p.Val329=)
5g.137639089C>GCA446561099KLHL3c.1083G>C (p.Val361=)
n.670G>C
c.*335-10652G>C (n.*335-10652G>C)
c.963G>C (p.Val321=)
c.837G>C (p.Val279=)
n.708G>C
c.987G>C (p.Val329=)
5g.137639089C>TCA446561100KLHL3c.1083G>A (p.Val361=)
n.670G>A
c.*335-10652G>A (n.*335-10652G>A)
c.963G>A (p.Val321=)
c.837G>A (p.Val279=)
n.708G>A
c.987G>A (p.Val329=)
5g.137639090A>CCA361048260KLHL3c.1082T>G (p.Val361Gly)
n.669T>G
c.*335-10653T>G (n.*335-10653T>G)
c.962T>G (p.Val321Gly)
c.836T>G (p.Val279Gly)
n.707T>G
c.986T>G (p.Val329Gly)
5g.137639090A>GCA361048262KLHL3c.1082T>C (p.Val361Ala)
n.669T>C
c.*335-10653T>C (n.*335-10653T>C)
c.962T>C (p.Val321Ala)
c.836T>C (p.Val279Ala)
n.707T>C
c.986T>C (p.Val329Ala)
5g.137639090A>TCA361048263KLHL3c.1082T>A (p.Val361Glu)
n.669T>A
c.*335-10653T>A (n.*335-10653T>A)
c.962T>A (p.Val321Glu)
c.836T>A (p.Val279Glu)
n.707T>A
c.986T>A (p.Val329Glu)
5g.137639091C>ACA361048269KLHL3c.1081G>T (p.Val361Leu)
n.668G>T
c.*335-10654G>T (n.*335-10654G>T)
c.961G>T (p.Val321Leu)
c.835G>T (p.Val279Leu)
n.706G>T
c.985G>T (p.Val329Leu)
5g.137639091C>GCA361048268KLHL3c.1081G>C (p.Val361Leu)
n.668G>C
c.*335-10654G>C (n.*335-10654G>C)
c.961G>C (p.Val321Leu)
c.835G>C (p.Val279Leu)
n.706G>C
c.985G>C (p.Val329Leu)
5g.137639091C>TCA361048266KLHL3c.1081G>A (p.Val361Met)
n.668G>A
c.*335-10654G>A (n.*335-10654G>A)
c.961G>A (p.Val321Met)
c.835G>A (p.Val279Met)
n.706G>A
c.985G>A (p.Val329Met)

Number of alleles fetched