Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.137638947A=CA1585515927KLHL3c.1219+6T= (n.1219+6T=)
n.806+6T=
c.*335-10510T= (n.*335-10510T=)
c.1099+6T= (n.1099+6T=)
c.973+6T= (n.973+6T=)
n.844+6T=
c.1123+6T= (n.1123+6T=)
5g.137638947A>CCA1585515926KLHL3c.1219+6T>G (n.1219+6T>G)
n.806+6T>G
c.*335-10510T>G (n.*335-10510T>G)
c.1099+6T>G (n.1099+6T>G)
c.973+6T>G (n.973+6T>G)
n.844+6T>G
c.1123+6T>G (n.1123+6T>G)
 dbSNP
5g.137638948C>ACA3422273KLHL3c.1219+5G>T (n.1219+5G>T)
n.806+5G>T
c.*335-10511G>T (n.*335-10511G>T)
c.1099+5G>T (n.1099+5G>T)
c.973+5G>T (n.973+5G>T)
n.844+5G>T
c.1123+5G>T (n.1123+5G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137638948C=CA1585515928KLHL3c.1219+5G= (n.1219+5G=)
n.806+5G=
c.*335-10511G= (n.*335-10511G=)
c.1099+5G= (n.1099+5G=)
c.973+5G= (n.973+5G=)
n.844+5G=
c.1123+5G= (n.1123+5G=)
5g.137638951A>CCA361047793KLHL3c.1219+2T>G (n.1219+2T>G)
n.806+2T>G
c.*335-10514T>G (n.*335-10514T>G)
c.1099+2T>G (n.1099+2T>G)
c.973+2T>G (n.973+2T>G)
n.844+2T>G
c.1123+2T>G (n.1123+2T>G)
5g.137638951A>GCA361047792KLHL3c.1219+2T>C (n.1219+2T>C)
n.806+2T>C
c.*335-10514T>C (n.*335-10514T>C)
c.1099+2T>C (n.1099+2T>C)
c.973+2T>C (n.973+2T>C)
n.844+2T>C
c.1123+2T>C (n.1123+2T>C)
5g.137638951A>TCA361047791KLHL3c.1219+2T>A (n.1219+2T>A)
n.806+2T>A
c.*335-10514T>A (n.*335-10514T>A)
c.1099+2T>A (n.1099+2T>A)
c.973+2T>A (n.973+2T>A)
n.844+2T>A
c.1123+2T>A (n.1123+2T>A)
5g.137638952C>ACA128103772KLHL3c.1219+1G>T (n.1219+1G>T)
n.806+1G>T
c.*335-10515G>T (n.*335-10515G>T)
c.1099+1G>T (n.1099+1G>T)
c.973+1G>T (n.973+1G>T)
n.844+1G>T
c.1123+1G>T (n.1123+1G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.137638952C=CA1585515929KLHL3c.1219+1G= (n.1219+1G=)
n.806+1G=
c.*335-10515G= (n.*335-10515G=)
c.1099+1G= (n.1099+1G=)
c.973+1G= (n.973+1G=)
n.844+1G=
c.1123+1G= (n.1123+1G=)
5g.137638952C>GCA361047794KLHL3c.1219+1G>C (n.1219+1G>C)
n.806+1G>C
c.*335-10515G>C (n.*335-10515G>C)
c.1099+1G>C (n.1099+1G>C)
c.973+1G>C (n.973+1G>C)
n.844+1G>C
c.1123+1G>C (n.1123+1G>C)
 gnomAD v4
5g.137638952C>TCA361047795KLHL3c.1219+1G>A (n.1219+1G>A)
n.806+1G>A
c.*335-10515G>A (n.*335-10515G>A)
c.1099+1G>A (n.1099+1G>A)
c.973+1G>A (n.973+1G>A)
n.844+1G>A
c.1123+1G>A (n.1123+1G>A)
5g.137638953C>ACA361047796KLHL3c.1219G>T (p.Gly407Cys)
n.806G>T
c.*335-10516G>T (n.*335-10516G>T)
c.1099G>T (p.Gly367Cys)
c.973G>T (p.Gly325Cys)
n.844G>T
c.1123G>T (p.Gly375Cys)
5g.137638953C>GCA361047797KLHL3c.1219G>C (p.Gly407Arg)
n.806G>C
c.*335-10516G>C (n.*335-10516G>C)
c.1099G>C (p.Gly367Arg)
c.973G>C (p.Gly325Arg)
n.844G>C
c.1123G>C (p.Gly375Arg)
5g.137638953C>TCA361047798KLHL3c.1219G>A (p.Gly407Ser)
n.806G>A
c.*335-10516G>A (n.*335-10516G>A)
c.1099G>A (p.Gly367Ser)
c.973G>A (p.Gly325Ser)
n.844G>A
c.1123G>A (p.Gly375Ser)
5g.137638954A=CA1585515930KLHL3c.1218T= (p.Thr406=)
n.805T=
c.*335-10517T= (n.*335-10517T=)
c.1098T= (p.Thr366=)
c.972T= (p.Thr324=)
n.843T=
c.1122T= (p.Thr374=)
5g.137638954A>CCA446560920KLHL3c.1218T>G (p.Thr406=)
n.805T>G
c.*335-10517T>G (n.*335-10517T>G)
c.1098T>G (p.Thr366=)
c.972T>G (p.Thr324=)
n.843T>G
c.1122T>G (p.Thr374=)
5g.137638954A>GCA446560922KLHL3c.1218T>C (p.Thr406=)
n.805T>C
c.*335-10517T>C (n.*335-10517T>C)
c.1098T>C (p.Thr366=)
c.972T>C (p.Thr324=)
n.843T>C
c.1122T>C (p.Thr374=)
 dbSNP
5g.137638954A>TCA446560924KLHL3c.1218T>A (p.Thr406=)
n.805T>A
c.*335-10517T>A (n.*335-10517T>A)
c.1098T>A (p.Thr366=)
c.972T>A (p.Thr324=)
n.843T>A
c.1122T>A (p.Thr374=)
5g.137638955G>ACA361047799KLHL3c.1217C>T (p.Thr406Ile)
n.804C>T
c.*335-10518C>T (n.*335-10518C>T)
c.1097C>T (p.Thr366Ile)
c.971C>T (p.Thr324Ile)
n.842C>T
c.1121C>T (p.Thr374Ile)
 gnomAD v4
5g.137638955G>CCA361047800KLHL3c.1217C>G (p.Thr406Ser)
n.804C>G
c.*335-10518C>G (n.*335-10518C>G)
c.1097C>G (p.Thr366Ser)
c.971C>G (p.Thr324Ser)
n.842C>G
c.1121C>G (p.Thr374Ser)
5g.137638955G>TCA361047801KLHL3c.1217C>A (p.Thr406Asn)
n.804C>A
c.*335-10518C>A (n.*335-10518C>A)
c.1097C>A (p.Thr366Asn)
c.971C>A (p.Thr324Asn)
n.842C>A
c.1121C>A (p.Thr374Asn)
5g.137638956T>ACA361047802KLHL3c.1216A>T (p.Thr406Ser)
n.803A>T
c.*335-10519A>T (n.*335-10519A>T)
c.1096A>T (p.Thr366Ser)
c.970A>T (p.Thr324Ser)
n.841A>T
c.1120A>T (p.Thr374Ser)
5g.137638956T>CCA361047803KLHL3c.1216A>G (p.Thr406Ala)
n.803A>G
c.*335-10519A>G (n.*335-10519A>G)
c.1096A>G (p.Thr366Ala)
c.970A>G (p.Thr324Ala)
n.841A>G
c.1120A>G (p.Thr374Ala)
5g.137638956T>GCA361047804KLHL3c.1216A>C (p.Thr406Pro)
n.803A>C
c.*335-10519A>C (n.*335-10519A>C)
c.1096A>C (p.Thr366Pro)
c.970A>C (p.Thr324Pro)
n.841A>C
c.1120A>C (p.Thr374Pro)
5g.137638957A>CCA361047805KLHL3c.1215T>G (p.Ser405Arg)
n.802T>G
c.*335-10520T>G (n.*335-10520T>G)
c.1095T>G (p.Ser365Arg)
c.969T>G (p.Ser323Arg)
n.840T>G
c.1119T>G (p.Ser373Arg)
5g.137638957A>GCA446560934KLHL3c.1215T>C (p.Ser405=)
n.802T>C
c.*335-10520T>C (n.*335-10520T>C)
c.1095T>C (p.Ser365=)
c.969T>C (p.Ser323=)
n.840T>C
c.1119T>C (p.Ser373=)
5g.137638957A>TCA361047806KLHL3c.1215T>A (p.Ser405Arg)
n.802T>A
c.*335-10520T>A (n.*335-10520T>A)
c.1095T>A (p.Ser365Arg)
c.969T>A (p.Ser323Arg)
n.840T>A
c.1119T>A (p.Ser373Arg)
5g.137638958C>ACA361047808KLHL3c.1214G>T (p.Ser405Ile)
n.801G>T
c.*335-10521G>T (n.*335-10521G>T)
c.1094G>T (p.Ser365Ile)
c.968G>T (p.Ser323Ile)
n.839G>T
c.1118G>T (p.Ser373Ile)
5g.137638958C=CA1585515931KLHL3c.1214G= (p.Ser405=)
n.801G=
c.*335-10521G= (n.*335-10521G=)
c.1094G= (p.Ser365=)
c.968G= (p.Ser323=)
n.839G=
c.1118G= (p.Ser373=)
5g.137638958C>GCA361047809KLHL3c.1214G>C (p.Ser405Thr)
n.801G>C
c.*335-10521G>C (n.*335-10521G>C)
c.1094G>C (p.Ser365Thr)
c.968G>C (p.Ser323Thr)
n.839G>C
c.1118G>C (p.Ser373Thr)
5g.137638958C>TCA361047807KLHL3c.1214G>A (p.Ser405Asn)
n.801G>A
c.*335-10521G>A (n.*335-10521G>A)
c.1094G>A (p.Ser365Asn)
c.968G>A (p.Ser323Asn)
n.839G>A
c.1118G>A (p.Ser373Asn)
 dbSNP gnomAD v4
5g.137638959T>ACA361047810KLHL3c.1213A>T (p.Ser405Cys)
n.800A>T
c.*335-10522A>T (n.*335-10522A>T)
c.1093A>T (p.Ser365Cys)
c.967A>T (p.Ser323Cys)
n.838A>T
c.1117A>T (p.Ser373Cys)
5g.137638959T>CCA3422274KLHL3c.1213A>G (p.Ser405Gly)
n.800A>G
c.*335-10522A>G (n.*335-10522A>G)
c.1093A>G (p.Ser365Gly)
c.967A>G (p.Ser323Gly)
n.838A>G
c.1117A>G (p.Ser373Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137638959T>GCA361047811KLHL3c.1213A>C (p.Ser405Arg)
n.800A>C
c.*335-10522A>C (n.*335-10522A>C)
c.1093A>C (p.Ser365Arg)
c.967A>C (p.Ser323Arg)
n.838A>C
c.1117A>C (p.Ser373Arg)
5g.137638959T=CA1585515932KLHL3c.1213A= (p.Ser405=)
n.800A=
c.*335-10522A= (n.*335-10522A=)
c.1093A= (p.Ser365=)
c.967A= (p.Ser323=)
n.838A=
c.1117A= (p.Ser373=)
5g.137638960G>ACA446560938KLHL3c.1212C>T (p.Gly404=)
n.799C>T
c.*335-10523C>T (n.*335-10523C>T)
c.1092C>T (p.Gly364=)
c.966C>T (p.Gly322=)
n.837C>T
c.1116C>T (p.Gly372=)
5g.137638960G>CCA446560939KLHL3c.1212C>G (p.Gly404=)
n.799C>G
c.*335-10523C>G (n.*335-10523C>G)
c.1092C>G (p.Gly364=)
c.966C>G (p.Gly322=)
n.837C>G
c.1116C>G (p.Gly372=)
5g.137638960G=CA1585515933KLHL3c.1212C= (p.Gly404=)
n.799C=
c.*335-10523C= (n.*335-10523C=)
c.1092C= (p.Gly364=)
c.966C= (p.Gly322=)
n.837C=
c.1116C= (p.Gly372=)
5g.137638960G>TCA446560940KLHL3c.1212C>A (p.Gly404=)
n.799C>A
c.*335-10523C>A (n.*335-10523C>A)
c.1092C>A (p.Gly364=)
c.966C>A (p.Gly322=)
n.837C>A
c.1116C>A (p.Gly372=)
 dbSNP gnomAD v2 gnomAD v4
5g.137638961C>ACA361047812KLHL3c.1211G>T (p.Gly404Val)
n.798G>T
c.*335-10524G>T (n.*335-10524G>T)
c.1091G>T (p.Gly364Val)
c.965G>T (p.Gly322Val)
n.836G>T
c.1115G>T (p.Gly372Val)
5g.137638961C>GCA361047813KLHL3c.1211G>C (p.Gly404Ala)
n.798G>C
c.*335-10524G>C (n.*335-10524G>C)
c.1091G>C (p.Gly364Ala)
c.965G>C (p.Gly322Ala)
n.836G>C
c.1115G>C (p.Gly372Ala)
5g.137638961C>TCA361047814KLHL3c.1211G>A (p.Gly404Asp)
n.798G>A
c.*335-10524G>A (n.*335-10524G>A)
c.1091G>A (p.Gly364Asp)
c.965G>A (p.Gly322Asp)
n.836G>A
c.1115G>A (p.Gly372Asp)
5g.137638962delCA2695205208KLHL3c.1211del (p.Gly404AlafsTer5)
n.798del
c.*335-10524del (n.*335-10524del)
c.1091del (p.Gly364AlafsTer5)
c.965del (p.Gly322AlafsTer5)
n.836del
c.1115del (p.Gly372AlafsTer5)
5g.137638962C>ACA361047816KLHL3c.1210G>T (p.Gly404Cys)
n.797G>T
c.*335-10525G>T (n.*335-10525G>T)
c.1090G>T (p.Gly364Cys)
c.964G>T (p.Gly322Cys)
n.835G>T
c.1114G>T (p.Gly372Cys)
5g.137638962C=CA1585515934KLHL3c.1210G= (p.Gly404=)
n.797G=
c.*335-10525G= (n.*335-10525G=)
c.1090G= (p.Gly364=)
c.964G= (p.Gly322=)
n.835G=
c.1114G= (p.Gly372=)
5g.137638962C>GCA361047815KLHL3c.1210G>C (p.Gly404Arg)
n.797G>C
c.*335-10525G>C (n.*335-10525G>C)
c.1090G>C (p.Gly364Arg)
c.964G>C (p.Gly322Arg)
n.835G>C
c.1114G>C (p.Gly372Arg)
5g.137638962C>TCA3422275KLHL3c.1210G>A (p.Gly404Ser)
n.797G>A
c.*335-10525G>A (n.*335-10525G>A)
c.1090G>A (p.Gly364Ser)
c.964G>A (p.Gly322Ser)
n.835G>A
c.1114G>A (p.Gly372Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137638963A>CCA361047817KLHL3c.1209T>G (p.Asp403Glu)
n.796T>G
c.*335-10526T>G (n.*335-10526T>G)
c.1089T>G (p.Asp363Glu)
c.963T>G (p.Asp321Glu)
n.834T>G
c.1113T>G (p.Asp371Glu)
5g.137638963A>GCA446560943KLHL3c.1209T>C (p.Asp403=)
n.796T>C
c.*335-10526T>C (n.*335-10526T>C)
c.1089T>C (p.Asp363=)
c.963T>C (p.Asp321=)
n.834T>C
c.1113T>C (p.Asp371=)
 gnomAD v4
5g.137638963A>TCA361047818KLHL3c.1209T>A (p.Asp403Glu)
n.796T>A
c.*335-10526T>A (n.*335-10526T>A)
c.1089T>A (p.Asp363Glu)
c.963T>A (p.Asp321Glu)
n.834T>A
c.1113T>A (p.Asp371Glu)
5g.137638964T>ACA361047819KLHL3c.1208A>T (p.Asp403Val)
n.795A>T
c.*335-10527A>T (n.*335-10527A>T)
c.1088A>T (p.Asp363Val)
c.962A>T (p.Asp321Val)
n.833A>T
c.1112A>T (p.Asp371Val)
 dbSNP gnomAD v3 gnomAD v4
5g.137638964T>CCA361047820KLHL3c.1208A>G (p.Asp403Gly)
n.795A>G
c.*335-10527A>G (n.*335-10527A>G)
c.1088A>G (p.Asp363Gly)
c.962A>G (p.Asp321Gly)
n.833A>G
c.1112A>G (p.Asp371Gly)
5g.137638964T>GCA361047821KLHL3c.1208A>C (p.Asp403Ala)
n.795A>C
c.*335-10527A>C (n.*335-10527A>C)
c.1088A>C (p.Asp363Ala)
c.962A>C (p.Asp321Ala)
n.833A>C
c.1112A>C (p.Asp371Ala)
5g.137638964T=CA1585515935KLHL3c.1208A= (p.Asp403=)
n.795A=
c.*335-10527A= (n.*335-10527A=)
c.1088A= (p.Asp363=)
c.962A= (p.Asp321=)
n.833A=
c.1112A= (p.Asp371=)
5g.137638965C>ACA361047822KLHL3c.1207G>T (p.Asp403Tyr)
n.794G>T
c.*335-10528G>T (n.*335-10528G>T)
c.1087G>T (p.Asp363Tyr)
c.961G>T (p.Asp321Tyr)
n.832G>T
c.1111G>T (p.Asp371Tyr)
5g.137638965C>GCA361047824KLHL3c.1207G>C (p.Asp403His)
n.794G>C
c.*335-10528G>C (n.*335-10528G>C)
c.1087G>C (p.Asp363His)
c.961G>C (p.Asp321His)
n.832G>C
c.1111G>C (p.Asp371His)
5g.137638965C>TCA361047823KLHL3c.1207G>A (p.Asp403Asn)
n.794G>A
c.*335-10528G>A (n.*335-10528G>A)
c.1087G>A (p.Asp363Asn)
c.961G>A (p.Asp321Asn)
n.832G>A
c.1111G>A (p.Asp371Asn)
5g.137638966A>CCA361047825KLHL3c.1206T>G (p.Phe402Leu)
n.793T>G
c.*335-10529T>G (n.*335-10529T>G)
c.1086T>G (p.Phe362Leu)
c.960T>G (p.Phe320Leu)
n.831T>G
c.1110T>G (p.Phe370Leu)
5g.137638966A>GCA446560944KLHL3c.1206T>C (p.Phe402=)
n.793T>C
c.*335-10529T>C (n.*335-10529T>C)
c.1086T>C (p.Phe362=)
c.960T>C (p.Phe320=)
n.831T>C
c.1110T>C (p.Phe370=)
5g.137638966A>TCA361047826KLHL3c.1206T>A (p.Phe402Leu)
n.793T>A
c.*335-10529T>A (n.*335-10529T>A)
c.1086T>A (p.Phe362Leu)
c.960T>A (p.Phe320Leu)
n.831T>A
c.1110T>A (p.Phe370Leu)
5g.137638967A>CCA361047827KLHL3c.1205T>G (p.Phe402Cys)
n.792T>G
c.*335-10530T>G (n.*335-10530T>G)
c.1085T>G (p.Phe362Cys)
c.959T>G (p.Phe320Cys)
n.830T>G
c.1109T>G (p.Phe370Cys)
5g.137638967A>GCA361047828KLHL3c.1205T>C (p.Phe402Ser)
n.792T>C
c.*335-10530T>C (n.*335-10530T>C)
c.1085T>C (p.Phe362Ser)
c.959T>C (p.Phe320Ser)
n.830T>C
c.1109T>C (p.Phe370Ser)
5g.137638967A>TCA361047829KLHL3c.1205T>A (p.Phe402Tyr)
n.792T>A
c.*335-10530T>A (n.*335-10530T>A)
c.1085T>A (p.Phe362Tyr)
c.959T>A (p.Phe320Tyr)
n.830T>A
c.1109T>A (p.Phe370Tyr)
5g.137638968A>CCA361047830KLHL3c.1204T>G (p.Phe402Val)
n.791T>G
c.*335-10531T>G (n.*335-10531T>G)
c.1084T>G (p.Phe362Val)
c.958T>G (p.Phe320Val)
n.829T>G
c.1108T>G (p.Phe370Val)
5g.137638968A>GCA361047831KLHL3c.1204T>C (p.Phe402Leu)
n.791T>C
c.*335-10531T>C (n.*335-10531T>C)
c.1084T>C (p.Phe362Leu)
c.958T>C (p.Phe320Leu)
n.829T>C
c.1108T>C (p.Phe370Leu)
5g.137638968A>TCA361047832KLHL3c.1204T>A (p.Phe402Ile)
n.791T>A
c.*335-10531T>A (n.*335-10531T>A)
c.1084T>A (p.Phe362Ile)
c.958T>A (p.Phe320Ile)
n.829T>A
c.1108T>A (p.Phe370Ile)
5g.137638969G>ACA446560945KLHL3c.1203C>T (p.Gly401=)
n.790C>T
c.*335-10532C>T (n.*335-10532C>T)
c.1083C>T (p.Gly361=)
c.957C>T (p.Gly319=)
n.828C>T
c.1107C>T (p.Gly369=)
 gnomAD v4 COSMIC
5g.137638969G>CCA446560947KLHL3c.1203C>G (p.Gly401=)
n.790C>G
c.*335-10532C>G (n.*335-10532C>G)
c.1083C>G (p.Gly361=)
c.957C>G (p.Gly319=)
n.828C>G
c.1107C>G (p.Gly369=)
 dbSNP gnomAD v2
5g.137638969G=CA1585515936KLHL3c.1203C= (p.Gly401=)
n.790C=
c.*335-10532C= (n.*335-10532C=)
c.1083C= (p.Gly361=)
c.957C= (p.Gly319=)
n.828C=
c.1107C= (p.Gly369=)
5g.137638969G>TCA446560949KLHL3c.1203C>A (p.Gly401=)
n.790C>A
c.*335-10532C>A (n.*335-10532C>A)
c.1083C>A (p.Gly361=)
c.957C>A (p.Gly319=)
n.828C>A
c.1107C>A (p.Gly369=)
 dbSNP gnomAD v2 gnomAD v4
5g.137638970C>ACA361047833KLHL3c.1202G>T (p.Gly401Val)
n.789G>T
c.*335-10533G>T (n.*335-10533G>T)
c.1082G>T (p.Gly361Val)
c.956G>T (p.Gly319Val)
n.827G>T
c.1106G>T (p.Gly369Val)
5g.137638970C>GCA361047834KLHL3c.1202G>C (p.Gly401Ala)
n.789G>C
c.*335-10533G>C (n.*335-10533G>C)
c.1082G>C (p.Gly361Ala)
c.956G>C (p.Gly319Ala)
n.827G>C
c.1106G>C (p.Gly369Ala)
5g.137638970C>TCA361047835KLHL3c.1202G>A (p.Gly401Asp)
n.789G>A
c.*335-10533G>A (n.*335-10533G>A)
c.1082G>A (p.Gly361Asp)
c.956G>A (p.Gly319Asp)
n.827G>A
c.1106G>A (p.Gly369Asp)
5g.137638971C>ACA361047836KLHL3c.1201G>T (p.Gly401Cys)
n.788G>T
c.*335-10534G>T (n.*335-10534G>T)
c.1081G>T (p.Gly361Cys)
c.955G>T (p.Gly319Cys)
n.826G>T
c.1105G>T (p.Gly369Cys)
5g.137638971C>GCA361047838KLHL3c.1201G>C (p.Gly401Arg)
n.788G>C
c.*335-10534G>C (n.*335-10534G>C)
c.1081G>C (p.Gly361Arg)
c.955G>C (p.Gly319Arg)
n.826G>C
c.1105G>C (p.Gly369Arg)
5g.137638971C>TCA361047837KLHL3c.1201G>A (p.Gly401Ser)
n.788G>A
c.*335-10534G>A (n.*335-10534G>A)
c.1081G>A (p.Gly361Ser)
c.955G>A (p.Gly319Ser)
n.826G>A
c.1105G>A (p.Gly369Ser)
5g.137638972T>ACA446560952KLHL3c.1200A>T (p.Gly400=)
n.787A>T
c.*335-10535A>T (n.*335-10535A>T)
c.1080A>T (p.Gly360=)
c.954A>T (p.Gly318=)
n.825A>T
c.1104A>T (p.Gly368=)
5g.137638972T>CCA3422276KLHL3c.1200A>G (p.Gly400=)
n.787A>G
c.*335-10535A>G (n.*335-10535A>G)
c.1080A>G (p.Gly360=)
c.954A>G (p.Gly318=)
n.825A>G
c.1104A>G (p.Gly368=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137638972T>GCA446560954KLHL3c.1200A>C (p.Gly400=)
n.787A>C
c.*335-10535A>C (n.*335-10535A>C)
c.1080A>C (p.Gly360=)
c.954A>C (p.Gly318=)
n.825A>C
c.1104A>C (p.Gly368=)
5g.137638972T=CA1585515937KLHL3c.1200A= (p.Gly400=)
n.787A=
c.*335-10535A= (n.*335-10535A=)
c.1080A= (p.Gly360=)
c.954A= (p.Gly318=)
n.825A=
c.1104A= (p.Gly368=)
5g.137638973C>ACA361047841KLHL3c.1199G>T (p.Gly400Val)
n.786G>T
c.*335-10536G>T (n.*335-10536G>T)
c.1079G>T (p.Gly360Val)
c.953G>T (p.Gly318Val)
n.824G>T
c.1103G>T (p.Gly368Val)
5g.137638973C>GCA361047839KLHL3c.1199G>C (p.Gly400Ala)
n.786G>C
c.*335-10536G>C (n.*335-10536G>C)
c.1079G>C (p.Gly360Ala)
c.953G>C (p.Gly318Ala)
n.824G>C
c.1103G>C (p.Gly368Ala)
5g.137638973C>TCA361047840KLHL3c.1199G>A (p.Gly400Glu)
n.786G>A
c.*335-10536G>A (n.*335-10536G>A)
c.1079G>A (p.Gly360Glu)
c.953G>A (p.Gly318Glu)
n.824G>A
c.1103G>A (p.Gly368Glu)
5g.137638974C>ACA361047842KLHL3c.1198G>T (p.Gly400Ter)
n.785G>T
c.*335-10537G>T (n.*335-10537G>T)
c.1078G>T (p.Gly360Ter)
c.952G>T (p.Gly318Ter)
n.823G>T
c.1102G>T (p.Gly368Ter)
5g.137638974C>GCA361047843KLHL3c.1198G>C (p.Gly400Arg)
n.785G>C
c.*335-10537G>C (n.*335-10537G>C)
c.1078G>C (p.Gly360Arg)
c.952G>C (p.Gly318Arg)
n.823G>C
c.1102G>C (p.Gly368Arg)
5g.137638974C>TCA361047844KLHL3c.1198G>A (p.Gly400Arg)
n.785G>A
c.*335-10537G>A (n.*335-10537G>A)
c.1078G>A (p.Gly360Arg)
c.952G>A (p.Gly318Arg)
n.823G>A
c.1102G>A (p.Gly368Arg)
5g.137638975C>ACA446560957KLHL3c.1197G>T (p.Val399=)
n.784G>T
c.*335-10538G>T (n.*335-10538G>T)
c.1077G>T (p.Val359=)
c.951G>T (p.Val317=)
n.822G>T
c.1101G>T (p.Val367=)
5g.137638975C>GCA446560958KLHL3c.1197G>C (p.Val399=)
n.784G>C
c.*335-10538G>C (n.*335-10538G>C)
c.1077G>C (p.Val359=)
c.951G>C (p.Val317=)
n.822G>C
c.1101G>C (p.Val367=)
5g.137638975C>TCA446560960KLHL3c.1197G>A (p.Val399=)
n.784G>A
c.*335-10538G>A (n.*335-10538G>A)
c.1077G>A (p.Val359=)
c.951G>A (p.Val317=)
n.822G>A
c.1101G>A (p.Val367=)
5g.137638976A>CCA361047845KLHL3c.1196T>G (p.Val399Gly)
n.783T>G
c.*335-10539T>G (n.*335-10539T>G)
c.1076T>G (p.Val359Gly)
c.950T>G (p.Val317Gly)
n.821T>G
c.1100T>G (p.Val367Gly)
5g.137638976A>GCA361047846KLHL3c.1196T>C (p.Val399Ala)
n.783T>C
c.*335-10539T>C (n.*335-10539T>C)
c.1076T>C (p.Val359Ala)
c.950T>C (p.Val317Ala)
n.821T>C
c.1100T>C (p.Val367Ala)
5g.137638976A>TCA361047847KLHL3c.1196T>A (p.Val399Glu)
n.783T>A
c.*335-10539T>A (n.*335-10539T>A)
c.1076T>A (p.Val359Glu)
c.950T>A (p.Val317Glu)
n.821T>A
c.1100T>A (p.Val367Glu)
5g.137638977C>ACA361047848KLHL3c.1195G>T (p.Val399Leu)
n.782G>T
c.*335-10540G>T (n.*335-10540G>T)
c.1075G>T (p.Val359Leu)
c.949G>T (p.Val317Leu)
n.820G>T
c.1099G>T (p.Val367Leu)
 gnomAD v4
5g.137638977C>GCA361047849KLHL3c.1195G>C (p.Val399Leu)
n.782G>C
c.*335-10540G>C (n.*335-10540G>C)
c.1075G>C (p.Val359Leu)
c.949G>C (p.Val317Leu)
n.820G>C
c.1099G>C (p.Val367Leu)
5g.137638977C>TCA361047850KLHL3c.1195G>A (p.Val399Met)
n.782G>A
c.*335-10540G>A (n.*335-10540G>A)
c.1075G>A (p.Val359Met)
c.949G>A (p.Val317Met)
n.820G>A
c.1099G>A (p.Val367Met)
5g.137638978T>ACA446560963KLHL3c.1194A>T (p.Ala398=)
n.781A>T
c.*335-10541A>T (n.*335-10541A>T)
c.1074A>T (p.Ala358=)
c.948A>T (p.Ala316=)
n.819A>T
c.1098A>T (p.Ala366=)
5g.137638978T>CCA446560964KLHL3c.1194A>G (p.Ala398=)
n.781A>G
c.*335-10541A>G (n.*335-10541A>G)
c.1074A>G (p.Ala358=)
c.948A>G (p.Ala316=)
n.819A>G
c.1098A>G (p.Ala366=)
5g.137638978T>GCA446560965KLHL3c.1194A>C (p.Ala398=)
n.781A>C
c.*335-10541A>C (n.*335-10541A>C)
c.1074A>C (p.Ala358=)
c.948A>C (p.Ala316=)
n.819A>C
c.1098A>C (p.Ala366=)
5g.137638979G>ACA129795KLHL3c.1193C>T (p.Ala398Val)
n.780C>T
c.*335-10542C>T (n.*335-10542C>T)
c.1073C>T (p.Ala358Val)
c.947C>T (p.Ala316Val)
n.818C>T
c.1097C>T (p.Ala366Val)
 ClinVar dbSNP gnomAD v4
5g.137638979G>CCA361047852KLHL3c.1193C>G (p.Ala398Gly)
n.780C>G
c.*335-10542C>G (n.*335-10542C>G)
c.1073C>G (p.Ala358Gly)
c.947C>G (p.Ala316Gly)
n.818C>G
c.1097C>G (p.Ala366Gly)
5g.137638979G=CA1585515938KLHL3c.1193C= (p.Ala398=)
n.780C=
c.*335-10542C= (n.*335-10542C=)
c.1073C= (p.Ala358=)
c.947C= (p.Ala316=)
n.818C=
c.1097C= (p.Ala366=)
5g.137638979G>TCA361047851KLHL3c.1193C>A (p.Ala398Glu)
n.780C>A
c.*335-10542C>A (n.*335-10542C>A)
c.1073C>A (p.Ala358Glu)
c.947C>A (p.Ala316Glu)
n.818C>A
c.1097C>A (p.Ala366Glu)
5g.137638980C>ACA361047853KLHL3c.1192G>T (p.Ala398Ser)
n.779G>T
c.*335-10543G>T (n.*335-10543G>T)
c.1072G>T (p.Ala358Ser)
c.946G>T (p.Ala316Ser)
n.817G>T
c.1096G>T (p.Ala366Ser)
5g.137638980C=CA1585515939KLHL3c.1192G= (p.Ala398=)
n.779G=
c.*335-10543G= (n.*335-10543G=)
c.1072G= (p.Ala358=)
c.946G= (p.Ala316=)
n.817G=
c.1096G= (p.Ala366=)
5g.137638980C>GCA361047854KLHL3c.1192G>C (p.Ala398Pro)
n.779G>C
c.*335-10543G>C (n.*335-10543G>C)
c.1072G>C (p.Ala358Pro)
c.946G>C (p.Ala316Pro)
n.817G>C
c.1096G>C (p.Ala366Pro)
5g.137638980C>TCA128103805KLHL3c.1192G>A (p.Ala398Thr)
n.779G>A
c.*335-10543G>A (n.*335-10543G>A)
c.1072G>A (p.Ala358Thr)
c.946G>A (p.Ala316Thr)
n.817G>A
c.1096G>A (p.Ala366Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.137638981G>ACA3422277KLHL3c.1191C>T (p.Tyr397=)
n.778C>T
c.*335-10544C>T (n.*335-10544C>T)
c.1071C>T (p.Tyr357=)
c.945C>T (p.Tyr315=)
n.816C>T
c.1095C>T (p.Tyr365=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137638981G>CCA361047855KLHL3c.1191C>G (p.Tyr397Ter)
n.778C>G
c.*335-10544C>G (n.*335-10544C>G)
c.1071C>G (p.Tyr357Ter)
c.945C>G (p.Tyr315Ter)
n.816C>G
c.1095C>G (p.Tyr365Ter)
 dbSNP gnomAD v3 gnomAD v4
5g.137638981G=CA1585515940KLHL3c.1191C= (p.Tyr397=)
n.778C=
c.*335-10544C= (n.*335-10544C=)
c.1071C= (p.Tyr357=)
c.945C= (p.Tyr315=)
n.816C=
c.1095C= (p.Tyr365=)
5g.137638981G>TCA361047856KLHL3c.1191C>A (p.Tyr397Ter)
n.778C>A
c.*335-10544C>A (n.*335-10544C>A)
c.1071C>A (p.Tyr357Ter)
c.945C>A (p.Tyr315Ter)
n.816C>A
c.1095C>A (p.Tyr365Ter)
5g.137638982T>ACA361047857KLHL3c.1190A>T (p.Tyr397Phe)
n.777A>T
c.*335-10545A>T (n.*335-10545A>T)
c.1070A>T (p.Tyr357Phe)
c.944A>T (p.Tyr315Phe)
n.815A>T
c.1094A>T (p.Tyr365Phe)
5g.137638982T>CCA361047858KLHL3c.1190A>G (p.Tyr397Cys)
n.777A>G
c.*335-10545A>G (n.*335-10545A>G)
c.1070A>G (p.Tyr357Cys)
c.944A>G (p.Tyr315Cys)
n.815A>G
c.1094A>G (p.Tyr365Cys)
5g.137638982T>GCA361047859KLHL3c.1190A>C (p.Tyr397Ser)
n.777A>C
c.*335-10545A>C (n.*335-10545A>C)
c.1070A>C (p.Tyr357Ser)
c.944A>C (p.Tyr315Ser)
n.815A>C
c.1094A>C (p.Tyr365Ser)
5g.137638983A>CCA361047860KLHL3c.1189T>G (p.Tyr397Asp)
n.776T>G
c.*335-10546T>G (n.*335-10546T>G)
c.1069T>G (p.Tyr357Asp)
c.943T>G (p.Tyr315Asp)
n.814T>G
c.1093T>G (p.Tyr365Asp)
5g.137638983A>GCA361047861KLHL3c.1189T>C (p.Tyr397His)
n.776T>C
c.*335-10546T>C (n.*335-10546T>C)
c.1069T>C (p.Tyr357His)
c.943T>C (p.Tyr315His)
n.814T>C
c.1093T>C (p.Tyr365His)
5g.137638983A>TCA361047862KLHL3c.1189T>A (p.Tyr397Asn)
n.776T>A
c.*335-10546T>A (n.*335-10546T>A)
c.1069T>A (p.Tyr357Asn)
c.943T>A (p.Tyr315Asn)
n.814T>A
c.1093T>A (p.Tyr365Asn)
5g.137638984G>ACA446560974KLHL3c.1188C>T (p.Leu396=)
n.775C>T
c.*335-10547C>T (n.*335-10547C>T)
c.1068C>T (p.Leu356=)
c.942C>T (p.Leu314=)
n.813C>T
c.1092C>T (p.Leu364=)
 gnomAD v4
5g.137638984G>CCA446560973KLHL3c.1188C>G (p.Leu396=)
n.775C>G
c.*335-10547C>G (n.*335-10547C>G)
c.1068C>G (p.Leu356=)
c.942C>G (p.Leu314=)
n.813C>G
c.1092C>G (p.Leu364=)
 gnomAD v4
5g.137638984G>TCA446560972KLHL3c.1188C>A (p.Leu396=)
n.775C>A
c.*335-10547C>A (n.*335-10547C>A)
c.1068C>A (p.Leu356=)
c.942C>A (p.Leu314=)
n.813C>A
c.1092C>A (p.Leu364=)
5g.137638985A>CCA361047865KLHL3c.1187T>G (p.Leu396Arg)
n.774T>G
c.*335-10548T>G (n.*335-10548T>G)
c.1067T>G (p.Leu356Arg)
c.941T>G (p.Leu314Arg)
n.812T>G
c.1091T>G (p.Leu364Arg)
5g.137638985A>GCA361047864KLHL3c.1187T>C (p.Leu396Pro)
n.774T>C
c.*335-10548T>C (n.*335-10548T>C)
c.1067T>C (p.Leu356Pro)
c.941T>C (p.Leu314Pro)
n.812T>C
c.1091T>C (p.Leu364Pro)
5g.137638985A>TCA361047863KLHL3c.1187T>A (p.Leu396His)
n.774T>A
c.*335-10548T>A (n.*335-10548T>A)
c.1067T>A (p.Leu356His)
c.941T>A (p.Leu314His)
n.812T>A
c.1091T>A (p.Leu364His)
5g.137638986G>ACA361047866KLHL3c.1186C>T (p.Leu396Phe)
n.773C>T
c.*335-10549C>T (n.*335-10549C>T)
c.1066C>T (p.Leu356Phe)
c.940C>T (p.Leu314Phe)
n.811C>T
c.1090C>T (p.Leu364Phe)
 COSMIC
5g.137638986G>CCA361047867KLHL3c.1186C>G (p.Leu396Val)
n.773C>G
c.*335-10549C>G (n.*335-10549C>G)
c.1066C>G (p.Leu356Val)
c.940C>G (p.Leu314Val)
n.811C>G
c.1090C>G (p.Leu364Val)
 gnomAD v4
5g.137638986G>TCA361047868KLHL3c.1186C>A (p.Leu396Ile)
n.773C>A
c.*335-10549C>A (n.*335-10549C>A)
c.1066C>A (p.Leu356Ile)
c.940C>A (p.Leu314Ile)
n.811C>A
c.1090C>A (p.Leu364Ile)
5g.137638987C>ACA361047869KLHL3c.1185G>T (p.Leu395Phe)
n.772G>T
c.*335-10550G>T (n.*335-10550G>T)
c.1065G>T (p.Leu355Phe)
c.939G>T (p.Leu313Phe)
n.810G>T
c.1089G>T (p.Leu363Phe)
5g.137638987C>GCA361047870KLHL3c.1185G>C (p.Leu395Phe)
n.772G>C
c.*335-10550G>C (n.*335-10550G>C)
c.1065G>C (p.Leu355Phe)
c.939G>C (p.Leu313Phe)
n.810G>C
c.1089G>C (p.Leu363Phe)
5g.137638987C>TCA446560975KLHL3c.1185G>A (p.Leu395=)
n.772G>A
c.*335-10550G>A (n.*335-10550G>A)
c.1065G>A (p.Leu355=)
c.939G>A (p.Leu313=)
n.810G>A
c.1089G>A (p.Leu363=)
5g.137638988A>CCA361047871KLHL3c.1184T>G (p.Leu395Trp)
n.771T>G
c.*335-10551T>G (n.*335-10551T>G)
c.1064T>G (p.Leu355Trp)
c.938T>G (p.Leu313Trp)
n.809T>G
c.1088T>G (p.Leu363Trp)
5g.137638988A>GCA361047872KLHL3c.1184T>C (p.Leu395Ser)
n.771T>C
c.*335-10551T>C (n.*335-10551T>C)
c.1064T>C (p.Leu355Ser)
c.938T>C (p.Leu313Ser)
n.809T>C
c.1088T>C (p.Leu363Ser)
5g.137638988A>TCA361047873KLHL3c.1184T>A (p.Leu395Ter)
n.771T>A
c.*335-10551T>A (n.*335-10551T>A)
c.1064T>A (p.Leu355Ter)
c.938T>A (p.Leu313Ter)
n.809T>A
c.1088T>A (p.Leu363Ter)
5g.137638989A>CCA361047874KLHL3c.1183T>G (p.Leu395Val)
n.770T>G
c.*335-10552T>G (n.*335-10552T>G)
c.1063T>G (p.Leu355Val)
c.937T>G (p.Leu313Val)
n.808T>G
c.1087T>G (p.Leu363Val)
5g.137638989A>GCA446560976KLHL3c.1183T>C (p.Leu395=)
n.770T>C
c.*335-10552T>C (n.*335-10552T>C)
c.1063T>C (p.Leu355=)
c.937T>C (p.Leu313=)
n.808T>C
c.1087T>C (p.Leu363=)
5g.137638989A>TCA361047875KLHL3c.1183T>A (p.Leu395Met)
n.770T>A
c.*335-10552T>A (n.*335-10552T>A)
c.1063T>A (p.Leu355Met)
c.937T>A (p.Leu313Met)
n.808T>A
c.1087T>A (p.Leu363Met)
5g.137638990G>ACA446560979KLHL3c.1182C>T (p.Asp394=)
n.769C>T
c.*335-10553C>T (n.*335-10553C>T)
c.1062C>T (p.Asp354=)
c.936C>T (p.Asp312=)
n.807C>T
c.1086C>T (p.Asp362=)
 gnomAD v4
5g.137638990G>CCA361047876KLHL3c.1182C>G (p.Asp394Glu)
n.769C>G
c.*335-10553C>G (n.*335-10553C>G)
c.1062C>G (p.Asp354Glu)
c.936C>G (p.Asp312Glu)
n.807C>G
c.1086C>G (p.Asp362Glu)
 gnomAD v4
5g.137638990G>TCA361047877KLHL3c.1182C>A (p.Asp394Glu)
n.769C>A
c.*335-10553C>A (n.*335-10553C>A)
c.1062C>A (p.Asp354Glu)
c.936C>A (p.Asp312Glu)
n.807C>A
c.1086C>A (p.Asp362Glu)
 gnomAD v4
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

Number of alleles fetched