Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
5g.137639092C>ACA446561103KLHL3c.1080G>T (p.Arg360=)
n.667G>T
c.*335-10655G>T (n.*335-10655G>T)
c.960G>T (p.Arg320=)
c.834G>T (p.Arg278=)
n.705G>T
c.984G>T (p.Arg328=)
5g.137639092C>GCA446561106KLHL3c.1080G>C (p.Arg360=)
n.667G>C
c.*335-10655G>C (n.*335-10655G>C)
c.960G>C (p.Arg320=)
c.834G>C (p.Arg278=)
n.705G>C
c.984G>C (p.Arg328=)
5g.137639092C>TCA446561105KLHL3c.1080G>A (p.Arg360=)
n.667G>A
c.*335-10655G>A (n.*335-10655G>A)
c.960G>A (p.Arg320=)
c.834G>A (p.Arg278=)
n.705G>A
c.984G>A (p.Arg328=)
5g.137639093C>ACA361048272KLHL3c.1079G>T (p.Arg360Leu)
n.666G>T
c.*335-10656G>T (n.*335-10656G>T)
c.959G>T (p.Arg320Leu)
c.833G>T (p.Arg278Leu)
n.704G>T
c.983G>T (p.Arg328Leu)
5g.137639093C=CA1585497663KLHL3c.1079G= (p.Arg360=)
n.666G=
c.*335-10656G= (n.*335-10656G=)
c.959G= (p.Arg320=)
c.833G= (p.Arg278=)
n.704G=
c.983G= (p.Arg328=)
5g.137639093C>GCA361048273KLHL3c.1079G>C (p.Arg360Pro)
n.666G>C
c.*335-10656G>C (n.*335-10656G>C)
c.959G>C (p.Arg320Pro)
c.833G>C (p.Arg278Pro)
n.704G>C
c.983G>C (p.Arg328Pro)
5g.137639093C>TCA361048275KLHL3c.1079G>A (p.Arg360Gln)
n.666G>A
c.*335-10656G>A (n.*335-10656G>A)
c.959G>A (p.Arg320Gln)
c.833G>A (p.Arg278Gln)
n.704G>A
c.983G>A (p.Arg328Gln)
 ClinVar dbSNP gnomAD v4 COSMIC
5g.137639094G>ACA128103933KLHL3c.1078C>T (p.Arg360Trp)
n.665C>T
c.*335-10657C>T (n.*335-10657C>T)
c.958C>T (p.Arg320Trp)
c.832C>T (p.Arg278Trp)
n.703C>T
c.982C>T (p.Arg328Trp)
 dbSNP gnomAD v2 gnomAD v4
5g.137639094G>CCA361048278KLHL3c.1078C>G (p.Arg360Gly)
n.665C>G
c.*335-10657C>G (n.*335-10657C>G)
c.958C>G (p.Arg320Gly)
c.832C>G (p.Arg278Gly)
n.703C>G
c.982C>G (p.Arg328Gly)
5g.137639094G=CA1585497670KLHL3c.1078C= (p.Arg360=)
n.665C=
c.*335-10657C= (n.*335-10657C=)
c.958C= (p.Arg320=)
c.832C= (p.Arg278=)
n.703C=
c.982C= (p.Arg328=)
5g.137639094G>TCA3422297KLHL3c.1078C>A (p.Arg360=)
n.665C>A
c.*335-10657C>A (n.*335-10657C>A)
c.958C>A (p.Arg320=)
c.832C>A (p.Arg278=)
n.703C>A
c.982C>A (p.Arg328=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639095C>ACA446561107KLHL3c.1077G>T (p.Leu359=)
n.664G>T
c.*335-10658G>T (n.*335-10658G>T)
c.957G>T (p.Leu319=)
c.831G>T (p.Leu277=)
n.702G>T
c.981G>T (p.Leu327=)
5g.137639095C>GCA446561108KLHL3c.1077G>C (p.Leu359=)
n.664G>C
c.*335-10658G>C (n.*335-10658G>C)
c.957G>C (p.Leu319=)
c.831G>C (p.Leu277=)
n.702G>C
c.981G>C (p.Leu327=)
5g.137639095C>TCA446561109KLHL3c.1077G>A (p.Leu359=)
n.664G>A
c.*335-10658G>A (n.*335-10658G>A)
c.957G>A (p.Leu319=)
c.831G>A (p.Leu277=)
n.702G>A
c.981G>A (p.Leu327=)
5g.137639096A>CCA361048281KLHL3c.1076T>G (p.Leu359Arg)
n.663T>G
c.*335-10659T>G (n.*335-10659T>G)
c.956T>G (p.Leu319Arg)
c.830T>G (p.Leu277Arg)
n.701T>G
c.980T>G (p.Leu327Arg)
5g.137639096A>GCA361048283KLHL3c.1076T>C (p.Leu359Pro)
n.663T>C
c.*335-10659T>C (n.*335-10659T>C)
c.956T>C (p.Leu319Pro)
c.830T>C (p.Leu277Pro)
n.701T>C
c.980T>C (p.Leu327Pro)
 gnomAD v4
5g.137639096A>TCA361048285KLHL3c.1076T>A (p.Leu359Gln)
n.663T>A
c.*335-10659T>A (n.*335-10659T>A)
c.956T>A (p.Leu319Gln)
c.830T>A (p.Leu277Gln)
n.701T>A
c.980T>A (p.Leu327Gln)
5g.137639097G>ACA3422298KLHL3c.1075C>T (p.Leu359=)
n.662C>T
c.*335-10660C>T (n.*335-10660C>T)
c.955C>T (p.Leu319=)
c.829C>T (p.Leu277=)
n.700C>T
c.979C>T (p.Leu327=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639097G>CCA361048287KLHL3c.1075C>G (p.Leu359Val)
n.662C>G
c.*335-10660C>G (n.*335-10660C>G)
c.955C>G (p.Leu319Val)
c.829C>G (p.Leu277Val)
n.700C>G
c.979C>G (p.Leu327Val)
5g.137639097G=CA1585497679KLHL3c.1075C= (p.Leu359=)
n.662C=
c.*335-10660C= (n.*335-10660C=)
c.955C= (p.Leu319=)
c.829C= (p.Leu277=)
n.700C=
c.979C= (p.Leu327=)
5g.137639097G>TCA3422299KLHL3c.1075C>A (p.Leu359Met)
n.662C>A
c.*335-10660C>A (n.*335-10660C>A)
c.955C>A (p.Leu319Met)
c.829C>A (p.Leu277Met)
n.700C>A
c.979C>A (p.Leu327Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137639098T>ACA446561113KLHL3c.1074A>T (p.Ser358=)
n.661A>T
c.*335-10661A>T (n.*335-10661A>T)
c.954A>T (p.Ser318=)
c.828A>T (p.Ser276=)
n.699A>T
c.978A>T (p.Ser326=)
5g.137639098T>CCA446561115KLHL3c.1074A>G (p.Ser358=)
n.661A>G
c.*335-10661A>G (n.*335-10661A>G)
c.954A>G (p.Ser318=)
c.828A>G (p.Ser276=)
n.699A>G
c.978A>G (p.Ser326=)
5g.137639098T>GCA446561114KLHL3c.1074A>C (p.Ser358=)
n.661A>C
c.*335-10661A>C (n.*335-10661A>C)
c.954A>C (p.Ser318=)
c.828A>C (p.Ser276=)
n.699A>C
c.978A>C (p.Ser326=)
5g.137639099G>ACA361048291KLHL3c.1073C>T (p.Ser358Leu)
n.660C>T
c.*335-10662C>T (n.*335-10662C>T)
c.953C>T (p.Ser318Leu)
c.827C>T (p.Ser276Leu)
n.698C>T
c.977C>T (p.Ser326Leu)
5g.137639099G>CCA361048293KLHL3c.1073C>G (p.Ser358Ter)
n.660C>G
c.*335-10662C>G (n.*335-10662C>G)
c.953C>G (p.Ser318Ter)
c.827C>G (p.Ser276Ter)
n.698C>G
c.977C>G (p.Ser326Ter)
5g.137639099G>TCA361048290KLHL3c.1073C>A (p.Ser358Ter)
n.660C>A
c.*335-10662C>A (n.*335-10662C>A)
c.953C>A (p.Ser318Ter)
c.827C>A (p.Ser276Ter)
n.698C>A
c.977C>A (p.Ser326Ter)
5g.137639100A>CCA361048294KLHL3c.1072T>G (p.Ser358Ala)
n.659T>G
c.*335-10663T>G (n.*335-10663T>G)
c.952T>G (p.Ser318Ala)
c.826T>G (p.Ser276Ala)
n.697T>G
c.976T>G (p.Ser326Ala)
5g.137639100A>GCA361048296KLHL3c.1072T>C (p.Ser358Pro)
n.659T>C
c.*335-10663T>C (n.*335-10663T>C)
c.952T>C (p.Ser318Pro)
c.826T>C (p.Ser276Pro)
n.697T>C
c.976T>C (p.Ser326Pro)
5g.137639100A>TCA361048298KLHL3c.1072T>A (p.Ser358Thr)
n.659T>A
c.*335-10663T>A (n.*335-10663T>A)
c.952T>A (p.Ser318Thr)
c.826T>A (p.Ser276Thr)
n.697T>A
c.976T>A (p.Ser326Thr)
5g.137639101G>ACA446561119KLHL3c.1071C>T (p.Gly357=)
n.658C>T
c.*335-10664C>T (n.*335-10664C>T)
c.951C>T (p.Gly317=)
c.825C>T (p.Gly275=)
n.696C>T
c.975C>T (p.Gly325=)
 gnomAD v4
5g.137639101G>CCA446561120KLHL3c.1071C>G (p.Gly357=)
n.658C>G
c.*335-10664C>G (n.*335-10664C>G)
c.951C>G (p.Gly317=)
c.825C>G (p.Gly275=)
n.696C>G
c.975C>G (p.Gly325=)
5g.137639101G>TCA446561121KLHL3c.1071C>A (p.Gly357=)
n.658C>A
c.*335-10664C>A (n.*335-10664C>A)
c.951C>A (p.Gly317=)
c.825C>A (p.Gly275=)
n.696C>A
c.975C>A (p.Gly325=)
5g.137639102C>ACA361048301KLHL3c.1070G>T (p.Gly357Val)
n.657G>T
c.*335-10665G>T (n.*335-10665G>T)
c.950G>T (p.Gly317Val)
c.824G>T (p.Gly275Val)
n.695G>T
c.974G>T (p.Gly325Val)
 gnomAD v4
5g.137639102C>GCA361048305KLHL3c.1070G>C (p.Gly357Ala)
n.657G>C
c.*335-10665G>C (n.*335-10665G>C)
c.950G>C (p.Gly317Ala)
c.824G>C (p.Gly275Ala)
n.695G>C
c.974G>C (p.Gly325Ala)
5g.137639102C>TCA361048307KLHL3c.1070G>A (p.Gly357Asp)
n.657G>A
c.*335-10665G>A (n.*335-10665G>A)
c.950G>A (p.Gly317Asp)
c.824G>A (p.Gly275Asp)
n.695G>A
c.974G>A (p.Gly325Asp)
5g.137639103C>ACA361048312KLHL3c.1069G>T (p.Gly357Cys)
n.656G>T
c.*335-10666G>T (n.*335-10666G>T)
c.949G>T (p.Gly317Cys)
c.823G>T (p.Gly275Cys)
n.694G>T
c.973G>T (p.Gly325Cys)
5g.137639103C>GCA361048310KLHL3c.1069G>C (p.Gly357Arg)
n.656G>C
c.*335-10666G>C (n.*335-10666G>C)
c.949G>C (p.Gly317Arg)
c.823G>C (p.Gly275Arg)
n.694G>C
c.973G>C (p.Gly325Arg)
5g.137639103C>TCA361048311KLHL3c.1069G>A (p.Gly357Ser)
n.656G>A
c.*335-10666G>A (n.*335-10666G>A)
c.949G>A (p.Gly317Ser)
c.823G>A (p.Gly275Ser)
n.694G>A
c.973G>A (p.Gly325Ser)
5g.137639104A>CCA361048315KLHL3c.1068T>G (p.Asn356Lys)
n.655T>G
c.*335-10667T>G (n.*335-10667T>G)
c.948T>G (p.Asn316Lys)
c.822T>G (p.Asn274Lys)
n.693T>G
c.972T>G (p.Asn324Lys)
5g.137639104A>GCA446561122KLHL3c.1068T>C (p.Asn356=)
n.655T>C
c.*335-10667T>C (n.*335-10667T>C)
c.948T>C (p.Asn316=)
c.822T>C (p.Asn274=)
n.693T>C
c.972T>C (p.Asn324=)
5g.137639104A>TCA361048316KLHL3c.1068T>A (p.Asn356Lys)
n.655T>A
c.*335-10667T>A (n.*335-10667T>A)
c.948T>A (p.Asn316Lys)
c.822T>A (p.Asn274Lys)
n.693T>A
c.972T>A (p.Asn324Lys)
5g.137639105T>ACA361048318KLHL3c.1067A>T (p.Asn356Ile)
n.654A>T
c.*335-10668A>T (n.*335-10668A>T)
c.947A>T (p.Asn316Ile)
c.821A>T (p.Asn274Ile)
n.692A>T
c.971A>T (p.Asn324Ile)
5g.137639105T>CCA361048321KLHL3c.1067A>G (p.Asn356Ser)
n.654A>G
c.*335-10668A>G (n.*335-10668A>G)
c.947A>G (p.Asn316Ser)
c.821A>G (p.Asn274Ser)
n.692A>G
c.971A>G (p.Asn324Ser)
5g.137639105T>GCA361048322KLHL3c.1067A>C (p.Asn356Thr)
n.654A>C
c.*335-10668A>C (n.*335-10668A>C)
c.947A>C (p.Asn316Thr)
c.821A>C (p.Asn274Thr)
n.692A>C
c.971A>C (p.Asn324Thr)
5g.137639106T>ACA361048324KLHL3c.1066A>T (p.Asn356Tyr)
n.653A>T
c.*335-10669A>T (n.*335-10669A>T)
c.946A>T (p.Asn316Tyr)
c.820A>T (p.Asn274Tyr)
n.691A>T
c.970A>T (p.Asn324Tyr)
5g.137639106T>CCA361048326KLHL3c.1066A>G (p.Asn356Asp)
n.653A>G
c.*335-10669A>G (n.*335-10669A>G)
c.946A>G (p.Asn316Asp)
c.820A>G (p.Asn274Asp)
n.691A>G
c.970A>G (p.Asn324Asp)
5g.137639106T>GCA361048325KLHL3c.1066A>C (p.Asn356His)
n.653A>C
c.*335-10669A>C (n.*335-10669A>C)
c.946A>C (p.Asn316His)
c.820A>C (p.Asn274His)
n.691A>C
c.970A>C (p.Asn324His)
5g.137639107A>CCA361048328KLHL3c.1065T>G (p.Phe355Leu)
n.652T>G
c.*335-10670T>G (n.*335-10670T>G)
c.945T>G (p.Phe315Leu)
c.819T>G (p.Phe273Leu)
n.690T>G
c.969T>G (p.Phe323Leu)
5g.137639107A>GCA446561125KLHL3c.1065T>C (p.Phe355=)
n.652T>C
c.*335-10670T>C (n.*335-10670T>C)
c.945T>C (p.Phe315=)
c.819T>C (p.Phe273=)
n.690T>C
c.969T>C (p.Phe323=)
5g.137639107A>TCA361048329KLHL3c.1065T>A (p.Phe355Leu)
n.652T>A
c.*335-10670T>A (n.*335-10670T>A)
c.945T>A (p.Phe315Leu)
c.819T>A (p.Phe273Leu)
n.690T>A
c.969T>A (p.Phe323Leu)
5g.137639108A>CCA361048330KLHL3c.1064T>G (p.Phe355Cys)
n.651T>G
c.*335-10671T>G (n.*335-10671T>G)
c.944T>G (p.Phe315Cys)
c.818T>G (p.Phe273Cys)
n.689T>G
c.968T>G (p.Phe323Cys)
 ClinVar
5g.137639108A>GCA361048332KLHL3c.1064T>C (p.Phe355Ser)
n.651T>C
c.*335-10671T>C (n.*335-10671T>C)
c.944T>C (p.Phe315Ser)
c.818T>C (p.Phe273Ser)
n.689T>C
c.968T>C (p.Phe323Ser)
5g.137639108A>TCA361048334KLHL3c.1064T>A (p.Phe355Tyr)
n.651T>A
c.*335-10671T>A (n.*335-10671T>A)
c.944T>A (p.Phe315Tyr)
c.818T>A (p.Phe273Tyr)
n.689T>A
c.968T>A (p.Phe323Tyr)
5g.137639109A=CA1585497681KLHL3c.1063T= (p.Phe355=)
n.650T=
c.*335-10672T= (n.*335-10672T=)
c.943T= (p.Phe315=)
c.817T= (p.Phe273=)
n.688T=
c.967T= (p.Phe323=)
5g.137639109A>CCA3422300KLHL3c.1063T>G (p.Phe355Val)
n.650T>G
c.*335-10672T>G (n.*335-10672T>G)
c.943T>G (p.Phe315Val)
c.817T>G (p.Phe273Val)
n.688T>G
c.967T>G (p.Phe323Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639109A>GCA361048337KLHL3c.1063T>C (p.Phe355Leu)
n.650T>C
c.*335-10672T>C (n.*335-10672T>C)
c.943T>C (p.Phe315Leu)
c.817T>C (p.Phe273Leu)
n.688T>C
c.967T>C (p.Phe323Leu)
5g.137639109A>TCA361048339KLHL3c.1063T>A (p.Phe355Ile)
n.650T>A
c.*335-10672T>A (n.*335-10672T>A)
c.943T>A (p.Phe315Ile)
c.817T>A (p.Phe273Ile)
n.688T>A
c.967T>A (p.Phe323Ile)
5g.137639110C>ACA128103961KLHL3c.1062G>T (p.Gly354=)
n.649G>T
c.*335-10673G>T (n.*335-10673G>T)
c.942G>T (p.Gly314=)
c.816G>T (p.Gly272=)
n.687G>T
c.966G>T (p.Gly322=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.137639110C=CA1585497685KLHL3c.1062G= (p.Gly354=)
n.649G=
c.*335-10673G= (n.*335-10673G=)
c.942G= (p.Gly314=)
c.816G= (p.Gly272=)
n.687G=
c.966G= (p.Gly322=)
5g.137639110C>GCA446561130KLHL3c.1062G>C (p.Gly354=)
n.649G>C
c.*335-10673G>C (n.*335-10673G>C)
c.942G>C (p.Gly314=)
c.816G>C (p.Gly272=)
n.687G>C
c.966G>C (p.Gly322=)
5g.137639110C>TCA446561131KLHL3c.1062G>A (p.Gly354=)
n.649G>A
c.*335-10673G>A (n.*335-10673G>A)
c.942G>A (p.Gly314=)
c.816G>A (p.Gly272=)
n.687G>A
c.966G>A (p.Gly322=)
 gnomAD v4
5g.137639111C>ACA361048343KLHL3c.1061G>T (p.Gly354Val)
n.648G>T
c.*335-10674G>T (n.*335-10674G>T)
c.941G>T (p.Gly314Val)
c.815G>T (p.Gly272Val)
n.686G>T
c.965G>T (p.Gly322Val)
5g.137639111C>GCA361048344KLHL3c.1061G>C (p.Gly354Ala)
n.648G>C
c.*335-10674G>C (n.*335-10674G>C)
c.941G>C (p.Gly314Ala)
c.815G>C (p.Gly272Ala)
n.686G>C
c.965G>C (p.Gly322Ala)
5g.137639111C>TCA361048346KLHL3c.1061G>A (p.Gly354Glu)
n.648G>A
c.*335-10674G>A (n.*335-10674G>A)
c.941G>A (p.Gly314Glu)
c.815G>A (p.Gly272Glu)
n.686G>A
c.965G>A (p.Gly322Glu)
 gnomAD v4
5g.137639112C>ACA361048348KLHL3c.1060G>T (p.Gly354Trp)
n.647G>T
c.*335-10675G>T (n.*335-10675G>T)
c.940G>T (p.Gly314Trp)
c.814G>T (p.Gly272Trp)
n.685G>T
c.964G>T (p.Gly322Trp)
5g.137639112C>GCA361048352KLHL3c.1060G>C (p.Gly354Arg)
n.647G>C
c.*335-10675G>C (n.*335-10675G>C)
c.940G>C (p.Gly314Arg)
c.814G>C (p.Gly272Arg)
n.685G>C
c.964G>C (p.Gly322Arg)
5g.137639112C>TCA361048350KLHL3c.1060G>A (p.Gly354Arg)
n.647G>A
c.*335-10675G>A (n.*335-10675G>A)
c.940G>A (p.Gly314Arg)
c.814G>A (p.Gly272Arg)
n.685G>A
c.964G>A (p.Gly322Arg)
5g.137639113T>ACA446561134KLHL3c.1059A>T (p.Gly353=)
n.646A>T
c.*335-10676A>T (n.*335-10676A>T)
c.939A>T (p.Gly313=)
c.813A>T (p.Gly271=)
n.684A>T
c.963A>T (p.Gly321=)
5g.137639113T>CCA446561132KLHL3c.1059A>G (p.Gly353=)
n.646A>G
c.*335-10676A>G (n.*335-10676A>G)
c.939A>G (p.Gly313=)
c.813A>G (p.Gly271=)
n.684A>G
c.963A>G (p.Gly321=)
5g.137639113T>GCA446561133KLHL3c.1059A>C (p.Gly353=)
n.646A>C
c.*335-10676A>C (n.*335-10676A>C)
c.939A>C (p.Gly313=)
c.813A>C (p.Gly271=)
n.684A>C
c.963A>C (p.Gly321=)
5g.137639114C>ACA361048354KLHL3c.1058G>T (p.Gly353Val)
n.645G>T
c.*335-10677G>T (n.*335-10677G>T)
c.938G>T (p.Gly313Val)
c.812G>T (p.Gly271Val)
n.683G>T
c.962G>T (p.Gly321Val)
5g.137639114C>GCA361048358KLHL3c.1058G>C (p.Gly353Ala)
n.645G>C
c.*335-10677G>C (n.*335-10677G>C)
c.938G>C (p.Gly313Ala)
c.812G>C (p.Gly271Ala)
n.683G>C
c.962G>C (p.Gly321Ala)
5g.137639114C>TCA361048356KLHL3c.1058G>A (p.Gly353Glu)
n.645G>A
c.*335-10677G>A (n.*335-10677G>A)
c.938G>A (p.Gly313Glu)
c.812G>A (p.Gly271Glu)
n.683G>A
c.962G>A (p.Gly321Glu)
 COSMIC
5g.137639115C>ACA361048360KLHL3c.1057G>T (p.Gly353Ter)
n.644G>T
c.*335-10678G>T (n.*335-10678G>T)
c.937G>T (p.Gly313Ter)
c.811G>T (p.Gly271Ter)
n.682G>T
c.961G>T (p.Gly321Ter)
5g.137639115C>GCA361048364KLHL3c.1057G>C (p.Gly353Arg)
n.644G>C
c.*335-10678G>C (n.*335-10678G>C)
c.937G>C (p.Gly313Arg)
c.811G>C (p.Gly271Arg)
n.682G>C
c.961G>C (p.Gly321Arg)
 gnomAD v4
5g.137639115C>TCA361048362KLHL3c.1057G>A (p.Gly353Arg)
n.644G>A
c.*335-10678G>A (n.*335-10678G>A)
c.937G>A (p.Gly313Arg)
c.811G>A (p.Gly271Arg)
n.682G>A
c.961G>A (p.Gly321Arg)
5g.137639116C>ACA446561138KLHL3c.1056G>T (p.Val352=)
n.643G>T
c.*335-10679G>T (n.*335-10679G>T)
c.936G>T (p.Val312=)
c.810G>T (p.Val270=)
n.681G>T
c.960G>T (p.Val320=)
 gnomAD v4
5g.137639116C>GCA446561139KLHL3c.1056G>C (p.Val352=)
n.643G>C
c.*335-10679G>C (n.*335-10679G>C)
c.936G>C (p.Val312=)
c.810G>C (p.Val270=)
n.681G>C
c.960G>C (p.Val320=)
5g.137639116C>TCA446561140KLHL3c.1056G>A (p.Val352=)
n.643G>A
c.*335-10679G>A (n.*335-10679G>A)
c.936G>A (p.Val312=)
c.810G>A (p.Val270=)
n.681G>A
c.960G>A (p.Val320=)
5g.137639117A>CCA361048367KLHL3c.1055T>G (p.Val352Gly)
n.642T>G
c.*335-10680T>G (n.*335-10680T>G)
c.935T>G (p.Val312Gly)
c.809T>G (p.Val270Gly)
n.680T>G
c.959T>G (p.Val320Gly)
5g.137639117A>GCA361048368KLHL3c.1055T>C (p.Val352Ala)
n.642T>C
c.*335-10680T>C (n.*335-10680T>C)
c.935T>C (p.Val312Ala)
c.809T>C (p.Val270Ala)
n.680T>C
c.959T>C (p.Val320Ala)
5g.137639117A>TCA361048370KLHL3c.1055T>A (p.Val352Glu)
n.642T>A
c.*335-10680T>A (n.*335-10680T>A)
c.935T>A (p.Val312Glu)
c.809T>A (p.Val270Glu)
n.680T>A
c.959T>A (p.Val320Glu)
5g.137639117dupCA2675417612KLHL3c.1055dup (p.Gly354ArgfsTer3)
n.642dup
c.*335-10680dup (n.*335-10680dup)
c.935dup (p.Gly314ArgfsTer3)
c.809dup (p.Gly272ArgfsTer3)
n.680dup
c.959dup (p.Gly322ArgfsTer3)
 gnomAD v4
5g.137639118C>ACA361048373KLHL3c.1054G>T (p.Val352Leu)
n.641G>T
c.*335-10681G>T (n.*335-10681G>T)
c.934G>T (p.Val312Leu)
c.808G>T (p.Val270Leu)
n.679G>T
c.958G>T (p.Val320Leu)
 gnomAD v4
5g.137639118C=CA1585497687KLHL3c.1054G= (p.Val352=)
n.641G=
c.*335-10681G= (n.*335-10681G=)
c.934G= (p.Val312=)
c.808G= (p.Val270=)
n.679G=
c.958G= (p.Val320=)
5g.137639118C>GCA361048374KLHL3c.1054G>C (p.Val352Leu)
n.641G>C
c.*335-10681G>C (n.*335-10681G>C)
c.934G>C (p.Val312Leu)
c.808G>C (p.Val270Leu)
n.679G>C
c.958G>C (p.Val320Leu)
5g.137639118C>TCA128103963KLHL3c.1054G>A (p.Val352Met)
n.641G>A
c.*335-10681G>A (n.*335-10681G>A)
c.934G>A (p.Val312Met)
c.808G>A (p.Val270Met)
n.679G>A
c.958G>A (p.Val320Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.137639119G>ACA3422301KLHL3c.1053C>T (p.Ala351=)
n.640C>T
c.*335-10682C>T (n.*335-10682C>T)
c.933C>T (p.Ala311=)
c.807C>T (p.Ala269=)
n.678C>T
c.957C>T (p.Ala319=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137639119G>CCA446561142KLHL3c.1053C>G (p.Ala351=)
n.640C>G
c.*335-10682C>G (n.*335-10682C>G)
c.933C>G (p.Ala311=)
c.807C>G (p.Ala269=)
n.678C>G
c.957C>G (p.Ala319=)
5g.137639119G=CA1585497689KLHL3c.1053C= (p.Ala351=)
n.640C=
c.*335-10682C= (n.*335-10682C=)
c.933C= (p.Ala311=)
c.807C= (p.Ala269=)
n.678C=
c.957C= (p.Ala319=)
5g.137639119G>TCA446561143KLHL3c.1053C>A (p.Ala351=)
n.640C>A
c.*335-10682C>A (n.*335-10682C>A)
c.933C>A (p.Ala311=)
c.807C>A (p.Ala269=)
n.678C>A
c.957C>A (p.Ala319=)
5g.137639120G>ACA361048379KLHL3c.1052C>T (p.Ala351Val)
n.639C>T
c.*335-10683C>T (n.*335-10683C>T)
c.932C>T (p.Ala311Val)
c.806C>T (p.Ala269Val)
n.677C>T
c.956C>T (p.Ala319Val)
5g.137639120G>CCA361048380KLHL3c.1052C>G (p.Ala351Gly)
n.639C>G
c.*335-10683C>G (n.*335-10683C>G)
c.932C>G (p.Ala311Gly)
c.806C>G (p.Ala269Gly)
n.677C>G
c.956C>G (p.Ala319Gly)
5g.137639120G>TCA361048382KLHL3c.1052C>A (p.Ala351Asp)
n.639C>A
c.*335-10683C>A (n.*335-10683C>A)
c.932C>A (p.Ala311Asp)
c.806C>A (p.Ala269Asp)
n.677C>A
c.956C>A (p.Ala319Asp)
5g.137639121C>ACA361048384KLHL3c.1051G>T (p.Ala351Ser)
n.638G>T
c.*335-10684G>T (n.*335-10684G>T)
c.931G>T (p.Ala311Ser)
c.805G>T (p.Ala269Ser)
n.676G>T
c.955G>T (p.Ala319Ser)
5g.137639121C>GCA361048386KLHL3c.1051G>C (p.Ala351Pro)
n.638G>C
c.*335-10684G>C (n.*335-10684G>C)
c.931G>C (p.Ala311Pro)
c.805G>C (p.Ala269Pro)
n.676G>C
c.955G>C (p.Ala319Pro)
5g.137639121C>TCA361048388KLHL3c.1051G>A (p.Ala351Thr)
n.638G>A
c.*335-10684G>A (n.*335-10684G>A)
c.931G>A (p.Ala311Thr)
c.805G>A (p.Ala269Thr)
n.676G>A
c.955G>A (p.Ala319Thr)
5g.137639121_137639131delinsCATACACGTGGCA1585497691KLHL3c.1041_1051delinsCCACGTGTATG (p.Gly347=)
n.628_638delinsCCACGTGTATG
c.*335-10694_*335-10684delinsCCACGTGTATG (n.*335-10694_*335-10684delinsCCACGTGTATG)
c.921_931delinsCCACGTGTATG (p.Gly307=)
c.795_805delinsCCACGTGTATG (p.Gly265=)
n.666_676delinsCCACGTGTATG
c.945_955delinsCCACGTGTATG (p.Gly315=)
5g.137639122A>CCA361048391KLHL3c.1050T>G (p.Tyr350Ter)
n.637T>G
c.*335-10685T>G (n.*335-10685T>G)
c.930T>G (p.Tyr310Ter)
c.804T>G (p.Tyr268Ter)
n.675T>G
c.954T>G (p.Tyr318Ter)
5g.137639122A>GCA446561147KLHL3c.1050T>C (p.Tyr350=)
n.637T>C
c.*335-10685T>C (n.*335-10685T>C)
c.930T>C (p.Tyr310=)
c.804T>C (p.Tyr268=)
n.675T>C
c.954T>C (p.Tyr318=)
5g.137639122A>TCA361048389KLHL3c.1050T>A (p.Tyr350Ter)
n.637T>A
c.*335-10685T>A (n.*335-10685T>A)
c.930T>A (p.Tyr310Ter)
c.804T>A (p.Tyr268Ter)
n.675T>A
c.954T>A (p.Tyr318Ter)
5g.137639122_137639131delCA446561148KLHL3c.1041_1050del (p.His348ProfsTer20)
n.628_637del
c.*335-10694_*335-10685del (n.*335-10694_*335-10685del)
c.921_930del (p.His308ProfsTer20)
c.795_804del (p.His266ProfsTer20)
n.666_675del
c.945_954del (p.His316ProfsTer20)
 dbSNP
5g.137639123T>ACA361048393KLHL3c.1049A>T (p.Tyr350Phe)
n.636A>T
c.*335-10686A>T (n.*335-10686A>T)
c.929A>T (p.Tyr310Phe)
c.803A>T (p.Tyr268Phe)
n.674A>T
c.953A>T (p.Tyr318Phe)
 dbSNP gnomAD v4
5g.137639123T>CCA361048395KLHL3c.1049A>G (p.Tyr350Cys)
n.636A>G
c.*335-10686A>G (n.*335-10686A>G)
c.929A>G (p.Tyr310Cys)
c.803A>G (p.Tyr268Cys)
n.674A>G
c.953A>G (p.Tyr318Cys)
5g.137639123T>GCA361048397KLHL3c.1049A>C (p.Tyr350Ser)
n.636A>C
c.*335-10686A>C (n.*335-10686A>C)
c.929A>C (p.Tyr310Ser)
c.803A>C (p.Tyr268Ser)
n.674A>C
c.953A>C (p.Tyr318Ser)
5g.137639123T=CA1585497694KLHL3c.1049A= (p.Tyr350=)
n.636A=
c.*335-10686A= (n.*335-10686A=)
c.929A= (p.Tyr310=)
c.803A= (p.Tyr268=)
n.674A=
c.953A= (p.Tyr318=)
5g.137639123_137639132delCA361048398KLHL3c.1040_1049del (p.Gly347ValfsTer21)
n.627_636del
c.*335-10695_*335-10686del (n.*335-10695_*335-10686del)
c.920_929del (p.Gly307ValfsTer21)
c.794_803del (p.Gly265ValfsTer21)
n.665_674del
c.944_953del (p.Gly315ValfsTer21)

Number of alleles fetched