Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186210569delCA2672898234CYP4V2,KLKB1c.1506del (p.Gly503AspfsTer3)
n.741del
n.6204del
c.201+1297del
n.596del
c.1503del (p.Gly502AspfsTer3)
c.1110del (p.Gly371AspfsTer3)
gnomAD v4
4g.186210569A>CCA358951074CYP4V2,KLKB1c.1506A>C (p.Glu502Asp)
n.741A>C
n.6204A>C
c.201+1297A>C
n.596A>C
c.1503A>C (p.Glu501Asp)
c.1110A>C (p.Glu370Asp)
4g.186210569A>GCA442641227CYP4V2,KLKB1c.1506A>G (p.Glu502=)
n.741A>G
n.6204A>G
c.201+1297A>G
n.596A>G
c.1503A>G (p.Glu501=)
c.1110A>G (p.Glu370=)
4g.186210569A>TCA358951076CYP4V2,KLKB1c.1506A>T (p.Glu502Asp)
n.741A>T
n.6204A>T
c.201+1297A>T
n.596A>T
c.1503A>T (p.Glu501Asp)
c.1110A>T (p.Glu370Asp)
4g.186210570G>ACA358951079CYP4V2,KLKB1c.1507G>A (p.Gly503Arg)
n.742G>A
n.6205G>A
c.201+1298G>A
n.597G>A
c.1504G>A (p.Gly502Arg)
c.1111G>A (p.Gly371Arg)
4g.186210570G>CCA3162883CYP4V2,KLKB1c.1507G>C (p.Gly503Arg)
n.742G>C
n.6205G>C
c.201+1298G>C
n.597G>C
c.1504G>C (p.Gly502Arg)
c.1111G>C (p.Gly371Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210570G=CA1519892093CYP4V2,KLKB1c.1507G= (p.Gly503=)
n.742G=
n.6205G=
c.201+1298G=
n.597G=
c.1504G= (p.Gly502=)
c.1111G= (p.Gly371=)
4g.186210570G>TCA358951083CYP4V2,KLKB1c.1507G>T (p.Gly503Ter)
n.742G>T
n.6205G>T
c.201+1298G>T
n.597G>T
c.1504G>T (p.Gly502Ter)
c.1111G>T (p.Gly371Ter)
4g.186210571G>ACA358951086CYP4V2,KLKB1c.1508G>A (p.Gly503Glu)
n.743G>A
n.6206G>A
c.201+1299G>A
n.598G>A
c.1505G>A (p.Gly502Glu)
c.1112G>A (p.Gly371Glu)
4g.186210571G>CCA358951089CYP4V2,KLKB1c.1508G>C (p.Gly503Ala)
n.743G>C
n.6206G>C
c.201+1299G>C
n.598G>C
c.1505G>C (p.Gly502Ala)
c.1112G>C (p.Gly371Ala)
4g.186210571G>TCA358951091CYP4V2,KLKB1c.1508G>T (p.Gly503Val)
n.743G>T
n.6206G>T
c.201+1299G>T
n.598G>T
c.1505G>T (p.Gly502Val)
c.1112G>T (p.Gly371Val)
4g.186210572A>CCA442641228CYP4V2,KLKB1c.1509A>C (p.Gly503=)
n.744A>C
n.6207A>C
c.201+1300A>C
n.599A>C
c.1506A>C (p.Gly502=)
c.1113A>C (p.Gly371=)
4g.186210572A>GCA442641229CYP4V2,KLKB1c.1509A>G (p.Gly503=)
n.744A>G
n.6207A>G
c.201+1300A>G
n.599A>G
c.1506A>G (p.Gly502=)
c.1113A>G (p.Gly371=)
4g.186210572A>TCA442641230CYP4V2,KLKB1c.1509A>T (p.Gly503=)
n.744A>T
n.6207A>T
c.201+1300A>T
n.599A>T
c.1506A>T (p.Gly502=)
c.1113A>T (p.Gly371=)
4g.186210573C>ACA358951094CYP4V2,KLKB1c.1510C>A (p.Gln504Lys)
n.745C>A
n.6208C>A
c.201+1301C>A
n.600C>A
c.1507C>A (p.Gln503Lys)
c.1114C>A (p.Gln372Lys)
4g.186210573C=CA1519892094CYP4V2,KLKB1c.1510C= (p.Gln504=)
n.745C=
n.6208C=
c.201+1301C=
n.600C=
c.1507C= (p.Gln503=)
c.1114C= (p.Gln372=)
4g.186210573C>GCA358951096CYP4V2,KLKB1c.1510C>G (p.Gln504Glu)
n.745C>G
n.6208C>G
c.201+1301C>G
n.600C>G
c.1507C>G (p.Gln503Glu)
c.1114C>G (p.Gln372Glu)
4g.186210573C>TCA358951098CYP4V2,KLKB1c.1510C>T (p.Gln504Ter)
n.745C>T
n.6208C>T
c.201+1301C>T
n.600C>T
c.1507C>T (p.Gln503Ter)
c.1114C>T (p.Gln372Ter)
dbSNP gnomAD v3 gnomAD v4
4g.186210574A=CA1519892095CYP4V2,KLKB1c.1511A= (p.Gln504=)
n.746A=
n.6209A=
c.201+1302A=
n.601A=
c.1508A= (p.Gln503=)
c.1115A= (p.Gln372=)
4g.186210574A>CCA358951101CYP4V2,KLKB1c.1511A>C (p.Gln504Pro)
n.746A>C
n.6209A>C
c.201+1302A>C
n.601A>C
c.1508A>C (p.Gln503Pro)
c.1115A>C (p.Gln372Pro)
4g.186210574A>GCA112136615CYP4V2,KLKB1c.1511A>G (p.Gln504Arg)
n.746A>G
n.6209A>G
c.201+1302A>G
n.601A>G
c.1508A>G (p.Gln503Arg)
c.1115A>G (p.Gln372Arg)
dbSNP gnomAD v3 gnomAD v4
4g.186210574A>TCA358951104CYP4V2,KLKB1c.1511A>T (p.Gln504Leu)
n.746A>T
n.6209A>T
c.201+1302A>T
n.601A>T
c.1508A>T (p.Gln503Leu)
c.1115A>T (p.Gln372Leu)
gnomAD v4
4g.186210575G>ACA3162885CYP4V2,KLKB1c.1512G>A (p.Gln504=)
n.747G>A
n.6210G>A
c.201+1303G>A
n.602G>A
c.1509G>A (p.Gln503=)
c.1116G>A (p.Gln372=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210575G>CCA358951108CYP4V2,KLKB1c.1512G>C (p.Gln504His)
n.747G>C
n.6210G>C
c.201+1303G>C
n.602G>C
c.1509G>C (p.Gln503His)
c.1116G>C (p.Gln372His)
4g.186210575G=CA1519892096CYP4V2,KLKB1c.1512G= (p.Gln504=)
n.747G=
n.6210G=
c.201+1303G=
n.602G=
c.1509G= (p.Gln503=)
c.1116G= (p.Gln372=)
4g.186210575G>TCA358951110CYP4V2,KLKB1c.1512G>T (p.Gln504His)
n.747G>T
n.6210G>T
c.201+1303G>T
n.602G>T
c.1509G>T (p.Gln503His)
c.1116G>T (p.Gln372His)
4g.186210575_186210576delinsGTCA1519892097CYP4V2,KLKB1c.1512_1513delinsGT (p.Gln504=)
n.747_748delinsGT
n.6210_6211delinsGT
c.201+1303_201+1304delinsGT
n.602_603delinsGT
c.1509_1510delinsGT (p.Gln503=)
c.1116_1117delinsGT (p.Gln372=)
4g.186210576T>ACA358951113CYP4V2,KLKB1c.1513T>A (p.Leu505Met)
n.748T>A
n.6211T>A
c.201+1304T>A
n.603T>A
c.1510T>A (p.Leu504Met)
c.1117T>A (p.Leu373Met)
4g.186210576T>CCA442641231CYP4V2,KLKB1c.1513T>C (p.Leu505=)
n.748T>C
n.6211T>C
c.201+1304T>C
n.603T>C
c.1510T>C (p.Leu504=)
c.1117T>C (p.Leu373=)
ClinVar
4g.186210576T>GCA358951115CYP4V2,KLKB1c.1513T>G (p.Leu505Val)
n.748T>G
n.6211T>G
c.201+1304T>G
n.603T>G
c.1510T>G (p.Leu504Val)
c.1117T>G (p.Leu373Val)
4g.186210577delCA3162884CYP4V2,KLKB1c.1514del (p.Leu505Ter)
n.749del
n.6212del
c.201+1305del
n.604del
c.1511del (p.Leu504Ter)
c.1118del (p.Leu373Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210577T>ACA358951118CYP4V2,KLKB1c.1514T>A (p.Leu505Ter)
n.749T>A
n.6212T>A
c.201+1305T>A
n.604T>A
c.1511T>A (p.Leu504Ter)
c.1118T>A (p.Leu373Ter)
4g.186210577T>CCA358951120CYP4V2,KLKB1c.1514T>C (p.Leu505Ser)
n.749T>C
n.6212T>C
c.201+1305T>C
n.604T>C
c.1511T>C (p.Leu504Ser)
c.1118T>C (p.Leu373Ser)
gnomAD v4
4g.186210577T>GCA358951122CYP4V2,KLKB1c.1514T>G (p.Leu505Trp)
n.749T>G
n.6212T>G
c.201+1305T>G
n.604T>G
c.1511T>G (p.Leu504Trp)
c.1118T>G (p.Leu373Trp)
4g.186210578G>ACA3162886CYP4V2,KLKB1c.1515G>A (p.Leu505=)
n.750G>A
n.6213G>A
c.201+1306G>A
n.605G>A
c.1512G>A (p.Leu504=)
c.1119G>A (p.Leu373=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210578G>CCA358951125CYP4V2,KLKB1c.1515G>C (p.Leu505Phe)
n.750G>C
n.6213G>C
c.201+1306G>C
n.605G>C
c.1512G>C (p.Leu504Phe)
c.1119G>C (p.Leu373Phe)
4g.186210578G=CA1519892098CYP4V2,KLKB1c.1515G= (p.Leu505=)
n.750G=
n.6213G=
c.201+1306G=
n.605G=
c.1512G= (p.Leu504=)
c.1119G= (p.Leu373=)
4g.186210578G>TCA358951128CYP4V2,KLKB1c.1515G>T (p.Leu505Phe)
n.750G>T
n.6213G>T
c.201+1306G>T
n.605G>T
c.1512G>T (p.Leu504Phe)
c.1119G>T (p.Leu373Phe)
4g.186210579A=CA1519892099CYP4V2,KLKB1c.1516A= (p.Ile506=)
n.751A=
n.6214A=
c.201+1307A=
n.606A=
c.1513A= (p.Ile505=)
c.1120A= (p.Ile374=)
4g.186210579A>CCA358951130CYP4V2,KLKB1c.1516A>C (p.Ile506Leu)
n.751A>C
n.6214A>C
c.201+1307A>C
n.606A>C
c.1513A>C (p.Ile505Leu)
c.1120A>C (p.Ile374Leu)
dbSNP
4g.186210579A>GCA358951132CYP4V2,KLKB1c.1516A>G (p.Ile506Val)
n.751A>G
n.6214A>G
c.201+1307A>G
n.606A>G
c.1513A>G (p.Ile505Val)
c.1120A>G (p.Ile374Val)
4g.186210579A>TCA358951134CYP4V2,KLKB1c.1516A>T (p.Ile506Phe)
n.751A>T
n.6214A>T
c.201+1307A>T
n.606A>T
c.1513A>T (p.Ile505Phe)
c.1120A>T (p.Ile374Phe)
4g.186210580T>ACA358951138CYP4V2,KLKB1c.1517T>A (p.Ile506Asn)
n.752T>A
n.6215T>A
c.201+1308T>A
n.607T>A
c.1514T>A (p.Ile505Asn)
c.1121T>A (p.Ile374Asn)
4g.186210580T>CCA358951141CYP4V2,KLKB1c.1517T>C (p.Ile506Thr)
n.752T>C
n.6215T>C
c.201+1308T>C
n.607T>C
c.1514T>C (p.Ile505Thr)
c.1121T>C (p.Ile374Thr)
4g.186210580T>GCA358951136CYP4V2,KLKB1c.1517T>G (p.Ile506Ser)
n.752T>G
n.6215T>G
c.201+1308T>G
n.607T>G
c.1514T>G (p.Ile505Ser)
c.1121T>G (p.Ile374Ser)
4g.186210581T>ACA442641232CYP4V2,KLKB1c.1518T>A (p.Ile506=)
n.753T>A
n.6216T>A
c.201+1309T>A
n.608T>A
c.1515T>A (p.Ile505=)
c.1122T>A (p.Ile374=)
4g.186210581T>CCA442641233CYP4V2,KLKB1c.1518T>C (p.Ile506=)
n.753T>C
n.6216T>C
c.201+1309T>C
n.608T>C
c.1515T>C (p.Ile505=)
c.1122T>C (p.Ile374=)
4g.186210581T>GCA358951144CYP4V2,KLKB1c.1518T>G (p.Ile506Met)
n.753T>G
n.6216T>G
c.201+1309T>G
n.608T>G
c.1515T>G (p.Ile505Met)
c.1122T>G (p.Ile374Met)
4g.186210582C>ACA358951146CYP4V2,KLKB1c.1519C>A (p.Leu507Ile)
n.754C>A
n.6217C>A
c.201+1310C>A
n.609C>A
c.1516C>A (p.Leu506Ile)
c.1123C>A (p.Leu375Ile)
4g.186210582C=CA1519892100CYP4V2,KLKB1c.1519C= (p.Leu507=)
n.754C=
n.6217C=
c.201+1310C=
n.609C=
c.1516C= (p.Leu506=)
c.1123C= (p.Leu375=)
4g.186210582C>GCA358951148CYP4V2,KLKB1c.1519C>G (p.Leu507Val)
n.754C>G
n.6217C>G
c.201+1310C>G
n.609C>G
c.1516C>G (p.Leu506Val)
c.1123C>G (p.Leu375Val)
4g.186210582C>TCA3162887CYP4V2,KLKB1c.1519C>T (p.Leu507Phe)
n.754C>T
n.6217C>T
c.201+1310C>T
n.609C>T
c.1516C>T (p.Leu506Phe)
c.1123C>T (p.Leu375Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210583T>ACA358951151CYP4V2,KLKB1c.1520T>A (p.Leu507His)
n.755T>A
n.6218T>A
c.201+1311T>A
n.610T>A
c.1517T>A (p.Leu506His)
c.1124T>A (p.Leu375His)
4g.186210583T>CCA358951153CYP4V2,KLKB1c.1520T>C (p.Leu507Pro)
n.755T>C
n.6218T>C
c.201+1311T>C
n.610T>C
c.1517T>C (p.Leu506Pro)
c.1124T>C (p.Leu375Pro)
4g.186210583T>GCA358951155CYP4V2,KLKB1c.1520T>G (p.Leu507Arg)
n.755T>G
n.6218T>G
c.201+1311T>G
n.610T>G
c.1517T>G (p.Leu506Arg)
c.1124T>G (p.Leu375Arg)
4g.186210584T>ACA442641234CYP4V2,KLKB1c.1521T>A (p.Leu507=)
n.756T>A
n.6219T>A
c.201+1312T>A
n.611T>A
c.1518T>A (p.Leu506=)
c.1125T>A (p.Leu375=)
4g.186210584T>CCA442641235CYP4V2,KLKB1c.1521T>C (p.Leu507=)
n.756T>C
n.6219T>C
c.201+1312T>C
n.611T>C
c.1518T>C (p.Leu506=)
c.1125T>C (p.Leu375=)
4g.186210584T>GCA442641236CYP4V2,KLKB1c.1521T>G (p.Leu507=)
n.756T>G
n.6219T>G
c.201+1312T>G
n.611T>G
c.1518T>G (p.Leu506=)
c.1125T>G (p.Leu375=)
4g.186210585C>ACA358951157CYP4V2,KLKB1c.1522C>A (p.Arg508Ser)
n.757C>A
n.6220C>A
c.201+1313C>A
n.612C>A
c.1519C>A (p.Arg507Ser)
c.1126C>A (p.Arg376Ser)
4g.186210585C>GCA358951161CYP4V2,KLKB1c.1522C>G (p.Arg508Gly)
n.757C>G
n.6220C>G
c.201+1313C>G
n.612C>G
c.1519C>G (p.Arg507Gly)
c.1126C>G (p.Arg376Gly)
4g.186210585C>TCA358951163CYP4V2,KLKB1c.1522C>T (p.Arg508Cys)
n.757C>T
n.6220C>T
c.201+1313C>T
n.612C>T
c.1519C>T (p.Arg507Cys)
c.1126C>T (p.Arg376Cys)
COSMIC
4g.186210586G>ACA339956CYP4V2,KLKB1c.1523G>A (p.Arg508His)
n.758G>A
n.6221G>A
c.201+1314G>A
n.613G>A
c.1520G>A (p.Arg507His)
c.1127G>A (p.Arg376His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210586G>CCA358951166CYP4V2,KLKB1c.1523G>C (p.Arg508Pro)
n.758G>C
n.6221G>C
c.201+1314G>C
n.613G>C
c.1520G>C (p.Arg507Pro)
c.1127G>C (p.Arg376Pro)
dbSNP
4g.186210586G=CA1519892101CYP4V2,KLKB1c.1523G= (p.Arg508=)
n.758G=
n.6221G=
c.201+1314G=
n.613G=
c.1520G= (p.Arg507=)
c.1127G= (p.Arg376=)
4g.186210586G>TCA358951169CYP4V2,KLKB1c.1523G>T (p.Arg508Leu)
n.758G>T
n.6221G>T
c.201+1314G>T
n.613G>T
c.1520G>T (p.Arg507Leu)
c.1127G>T (p.Arg376Leu)
4g.186210587T>ACA442641237CYP4V2,KLKB1c.1524T>A (p.Arg508=)
n.759T>A
n.6222T>A
c.201+1315T>A
n.614T>A
c.1521T>A (p.Arg507=)
c.1128T>A (p.Arg376=)
4g.186210587T>CCA442641238CYP4V2,KLKB1c.1524T>C (p.Arg508=)
n.759T>C
n.6222T>C
c.201+1315T>C
n.614T>C
c.1521T>C (p.Arg507=)
c.1128T>C (p.Arg376=)
4g.186210587T>GCA442641239CYP4V2,KLKB1c.1524T>G (p.Arg508=)
n.759T>G
n.6222T>G
c.201+1315T>G
n.614T>G
c.1521T>G (p.Arg507=)
c.1128T>G (p.Arg376=)
4g.186210588C>ACA358951172CYP4V2,KLKB1c.1525C>A (p.Pro509Thr)
n.760C>A
n.6223C>A
c.201+1316C>A
n.615C>A
c.1522C>A (p.Pro508Thr)
c.1129C>A (p.Pro377Thr)
4g.186210588C>GCA358951174CYP4V2,KLKB1c.1525C>G (p.Pro509Ala)
n.760C>G
n.6223C>G
c.201+1316C>G
n.615C>G
c.1522C>G (p.Pro508Ala)
c.1129C>G (p.Pro377Ala)
4g.186210588C>TCA358951176CYP4V2,KLKB1c.1525C>T (p.Pro509Ser)
n.760C>T
n.6223C>T
c.201+1316C>T
n.615C>T
c.1522C>T (p.Pro508Ser)
c.1129C>T (p.Pro377Ser)
4g.186210589C>ACA358951178CYP4V2,KLKB1c.1526C>A (p.Pro509Gln)
n.761C>A
n.6224C>A
c.201+1317C>A
n.616C>A
c.1523C>A (p.Pro508Gln)
c.1130C>A (p.Pro377Gln)
4g.186210589C=CA1519892102CYP4V2,KLKB1c.1526C= (p.Pro509=)
n.761C=
n.6224C=
c.201+1317C=
n.616C=
c.1523C= (p.Pro508=)
c.1130C= (p.Pro377=)
4g.186210589C>GCA358951182CYP4V2,KLKB1c.1526C>G (p.Pro509Arg)
n.761C>G
n.6224C>G
c.201+1317C>G
n.616C>G
c.1523C>G (p.Pro508Arg)
c.1130C>G (p.Pro377Arg)
ClinVar
4g.186210589C>TCA343721CYP4V2,KLKB1c.1526C>T (p.Pro509Leu)
n.761C>T
n.6224C>T
c.201+1317C>T
n.616C>T
c.1523C>T (p.Pro508Leu)
c.1130C>T (p.Pro377Leu)
ClinVar dbSNP
4g.186210590A=CA1519892103CYP4V2,KLKB1c.1527A= (p.Pro509=)
n.762A=
n.6225A=
c.201+1318A=
n.617A=
c.1524A= (p.Pro508=)
c.1131A= (p.Pro377=)
4g.186210590A>CCA442641240CYP4V2,KLKB1c.1527A>C (p.Pro509=)
n.762A>C
n.6225A>C
c.201+1318A>C
n.617A>C
c.1524A>C (p.Pro508=)
c.1131A>C (p.Pro377=)
4g.186210590A>GCA3162888CYP4V2,KLKB1c.1527A>G (p.Pro509=)
n.762A>G
n.6225A>G
c.201+1318A>G
n.617A>G
c.1524A>G (p.Pro508=)
c.1131A>G (p.Pro377=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210590A>TCA442641241CYP4V2,KLKB1c.1527A>T (p.Pro509=)
n.762A>T
n.6225A>T
c.201+1318A>T
n.617A>T
c.1524A>T (p.Pro508=)
c.1131A>T (p.Pro377=)
4g.186210591A>CCA358951186CYP4V2,KLKB1c.1528A>C (p.Ser510Arg)
n.763A>C
n.6226A>C
c.201+1319A>C
n.618A>C
c.1525A>C (p.Ser509Arg)
c.1132A>C (p.Ser378Arg)
4g.186210591A>GCA358951189CYP4V2,KLKB1c.1528A>G (p.Ser510Gly)
n.763A>G
n.6226A>G
c.201+1319A>G
n.618A>G
c.1525A>G (p.Ser509Gly)
c.1132A>G (p.Ser378Gly)
gnomAD v4
4g.186210591A>TCA358951190CYP4V2,KLKB1c.1528A>T (p.Ser510Cys)
n.763A>T
n.6226A>T
c.201+1319A>T
n.618A>T
c.1525A>T (p.Ser509Cys)
c.1132A>T (p.Ser378Cys)
4g.186210592G>ACA358951193CYP4V2,KLKB1c.1529G>A (p.Ser510Asn)
n.764G>A
n.6227G>A
c.201+1320G>A
n.619G>A
c.1526G>A (p.Ser509Asn)
c.1133G>A (p.Ser378Asn)
ClinVar dbSNP
4g.186210592G>CCA358951194CYP4V2,KLKB1c.1529G>C (p.Ser510Thr)
n.764G>C
n.6227G>C
c.201+1320G>C
n.619G>C
c.1526G>C (p.Ser509Thr)
c.1133G>C (p.Ser378Thr)
4g.186210592G>TCA358951196CYP4V2,KLKB1c.1529G>T (p.Ser510Ile)
n.764G>T
n.6227G>T
c.201+1320G>T
n.619G>T
c.1526G>T (p.Ser509Ile)
c.1133G>T (p.Ser378Ile)
4g.186210593T>ACA358951198CYP4V2,KLKB1c.1530T>A (p.Ser510Arg)
n.765T>A
n.6228T>A
c.201+1321T>A
n.620T>A
c.1527T>A (p.Ser509Arg)
c.1134T>A (p.Ser378Arg)
4g.186210593T>CCA442641242CYP4V2,KLKB1c.1530T>C (p.Ser510=)
n.765T>C
n.6228T>C
c.201+1321T>C
n.620T>C
c.1527T>C (p.Ser509=)
c.1134T>C (p.Ser378=)
4g.186210593T>GCA358951200CYP4V2,KLKB1c.1530T>G (p.Ser510Arg)
n.765T>G
n.6228T>G
c.201+1321T>G
n.620T>G
c.1527T>G (p.Ser509Arg)
c.1134T>G (p.Ser378Arg)
4g.186210594A>CCA358951205CYP4V2,KLKB1c.1531A>C (p.Asn511His)
n.766A>C
n.6229A>C
c.201+1322A>C
n.621A>C
c.1528A>C (p.Asn510His)
c.1135A>C (p.Asn379His)
4g.186210594A>GCA358951206CYP4V2,KLKB1c.1531A>G (p.Asn511Asp)
n.766A>G
n.6229A>G
c.201+1322A>G
n.621A>G
c.1528A>G (p.Asn510Asp)
c.1135A>G (p.Asn379Asp)
4g.186210594A>TCA358951202CYP4V2,KLKB1c.1531A>T (p.Asn511Tyr)
n.766A>T
n.6229A>T
c.201+1322A>T
n.621A>T
c.1528A>T (p.Asn510Tyr)
c.1135A>T (p.Asn379Tyr)
4g.186210595A>CCA358951210CYP4V2,KLKB1c.1532A>C (p.Asn511Thr)
n.767A>C
n.6230A>C
c.201+1323A>C
n.622A>C
c.1529A>C (p.Asn510Thr)
c.1136A>C (p.Asn379Thr)
4g.186210595A>GCA358951212CYP4V2,KLKB1c.1532A>G (p.Asn511Ser)
n.767A>G
n.6230A>G
c.201+1323A>G
n.622A>G
c.1529A>G (p.Asn510Ser)
c.1136A>G (p.Asn379Ser)
gnomAD v4
4g.186210595A>TCA358951214CYP4V2,KLKB1c.1532A>T (p.Asn511Ile)
n.767A>T
n.6230A>T
c.201+1323A>T
n.622A>T
c.1529A>T (p.Asn510Ile)
c.1136A>T (p.Asn379Ile)
4g.186210596T>ACA358951216CYP4V2,KLKB1c.1533T>A (p.Asn511Lys)
n.768T>A
n.6231T>A
c.201+1324T>A
n.623T>A
c.1530T>A (p.Asn510Lys)
c.1137T>A (p.Asn379Lys)
4g.186210596T>CCA442641243CYP4V2,KLKB1c.1533T>C (p.Asn511=)
n.768T>C
n.6231T>C
c.201+1324T>C
n.623T>C
c.1530T>C (p.Asn510=)
c.1137T>C (p.Asn379=)
dbSNP
4g.186210596T>GCA358951219CYP4V2,KLKB1c.1533T>G (p.Asn511Lys)
n.768T>G
n.6231T>G
c.201+1324T>G
n.623T>G
c.1530T>G (p.Asn510Lys)
c.1137T>G (p.Asn379Lys)
4g.186210596T=CA1519892104CYP4V2,KLKB1c.1533T= (p.Asn511=)
n.768T=
n.6231T=
c.201+1324T=
n.623T=
c.1530T= (p.Asn510=)
c.1137T= (p.Asn379=)
4g.186210597G>ACA3162889CYP4V2,KLKB1c.1534G>A (p.Gly512Ser)
n.769G>A
n.6232G>A
c.201+1325G>A
n.624G>A
c.1531G>A (p.Gly511Ser)
c.1138G>A (p.Gly380Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210597G>CCA358951221CYP4V2,KLKB1c.1534G>C (p.Gly512Arg)
n.769G>C
n.6232G>C
c.201+1325G>C
n.624G>C
c.1531G>C (p.Gly511Arg)
c.1138G>C (p.Gly380Arg)
dbSNP gnomAD v4
4g.186210597G=CA1519892105CYP4V2,KLKB1c.1534G= (p.Gly512=)
n.769G=
n.6232G=
c.201+1325G=
n.624G=
c.1531G= (p.Gly511=)
c.1138G= (p.Gly380=)
4g.186210597G>TCA358951223CYP4V2,KLKB1c.1534G>T (p.Gly512Cys)
n.769G>T
n.6232G>T
c.201+1325G>T
n.624G>T
c.1531G>T (p.Gly511Cys)
c.1138G>T (p.Gly380Cys)
4g.186210598G>ACA358951227CYP4V2,KLKB1c.1535G>A (p.Gly512Asp)
n.770G>A
n.6233G>A
c.201+1326G>A
n.625G>A
c.1532G>A (p.Gly511Asp)
c.1139G>A (p.Gly380Asp)
4g.186210598G>CCA358951229CYP4V2,KLKB1c.1535G>C (p.Gly512Ala)
n.770G>C
n.6233G>C
c.201+1326G>C
n.625G>C
c.1532G>C (p.Gly511Ala)
c.1139G>C (p.Gly380Ala)
4g.186210598G>TCA358951232CYP4V2,KLKB1c.1535G>T (p.Gly512Val)
n.770G>T
n.6233G>T
c.201+1326G>T
n.625G>T
c.1532G>T (p.Gly511Val)
c.1139G>T (p.Gly380Val)
4g.186210599C>ACA442641244CYP4V2,KLKB1c.1536C>A (p.Gly512=)
n.771C>A
n.6234C>A
c.201+1327C>A
n.626C>A
c.1533C>A (p.Gly511=)
c.1140C>A (p.Gly380=)
4g.186210599C=CA1519892106CYP4V2,KLKB1c.1536C= (p.Gly512=)
n.771C=
n.6234C=
c.201+1327C=
n.626C=
c.1533C= (p.Gly511=)
c.1140C= (p.Gly380=)
4g.186210599C>GCA442641245CYP4V2,KLKB1c.1536C>G (p.Gly512=)
n.771C>G
n.6234C>G
c.201+1327C>G
n.626C>G
c.1533C>G (p.Gly511=)
c.1140C>G (p.Gly380=)
gnomAD v4
4g.186210599C>TCA3162890CYP4V2,KLKB1c.1536C>T (p.Gly512=)
n.771C>T
n.6234C>T
c.201+1327C>T
n.626C>T
c.1533C>T (p.Gly511=)
c.1140C>T (p.Gly380=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210600A=CA1519892107CYP4V2,KLKB1c.1537A= (p.Ile513=)
n.772A=
n.6235A=
c.201+1328A=
n.627A=
c.1534A= (p.Ile512=)
c.1141A= (p.Ile381=)
4g.186210600A>CCA358951241CYP4V2,KLKB1c.1537A>C (p.Ile513Leu)
n.772A>C
n.6235A>C
c.201+1328A>C
n.627A>C
c.1534A>C (p.Ile512Leu)
c.1141A>C (p.Ile381Leu)
4g.186210600A>GCA358951236CYP4V2,KLKB1c.1537A>G (p.Ile513Val)
n.772A>G
n.6235A>G
c.201+1328A>G
n.627A>G
c.1534A>G (p.Ile512Val)
c.1141A>G (p.Ile381Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186210600A>TCA358951239CYP4V2,KLKB1c.1537A>T (p.Ile513Phe)
n.772A>T
n.6235A>T
c.201+1328A>T
n.627A>T
c.1534A>T (p.Ile512Phe)
c.1141A>T (p.Ile381Phe)
4g.186210601T>ACA358951244CYP4V2,KLKB1c.1538T>A (p.Ile513Asn)
n.773T>A
n.6236T>A
c.201+1329T>A
n.628T>A
c.1535T>A (p.Ile512Asn)
c.1142T>A (p.Ile381Asn)
4g.186210601T>CCA358951250CYP4V2,KLKB1c.1538T>C (p.Ile513Thr)
n.773T>C
n.6236T>C
c.201+1329T>C
n.628T>C
c.1535T>C (p.Ile512Thr)
c.1142T>C (p.Ile381Thr)
gnomAD v4
4g.186210601T>GCA358951253CYP4V2,KLKB1c.1538T>G (p.Ile513Ser)
n.773T>G
n.6236T>G
c.201+1329T>G
n.628T>G
c.1535T>G (p.Ile512Ser)
c.1142T>G (p.Ile381Ser)
4g.186210602C>ACA442641246CYP4V2,KLKB1c.1539C>A (p.Ile513=)
n.774C>A
n.6237C>A
c.201+1330C>A
n.629C>A
c.1536C>A (p.Ile512=)
c.1143C>A (p.Ile381=)
4g.186210602C>GCA358951255CYP4V2,KLKB1c.1539C>G (p.Ile513Met)
n.774C>G
n.6237C>G
c.201+1330C>G
n.629C>G
c.1536C>G (p.Ile512Met)
c.1143C>G (p.Ile381Met)
gnomAD v4
4g.186210602C>TCA442641247CYP4V2,KLKB1c.1539C>T (p.Ile513=)
n.774C>T
n.6237C>T
c.201+1330C>T
n.629C>T
c.1536C>T (p.Ile512=)
c.1143C>T (p.Ile381=)
gnomAD v4
4g.186210603T>ACA358951258CYP4V2,KLKB1c.1540T>A (p.Trp514Arg)
n.775T>A
n.6238T>A
c.201+1331T>A
n.630T>A
c.1537T>A (p.Trp513Arg)
c.1144T>A (p.Trp382Arg)
4g.186210603T>CCA358951261CYP4V2,KLKB1c.1540T>C (p.Trp514Arg)
n.775T>C
n.6238T>C
c.201+1331T>C
n.630T>C
c.1537T>C (p.Trp513Arg)
c.1144T>C (p.Trp382Arg)
4g.186210603T>GCA358951264CYP4V2,KLKB1c.1540T>G (p.Trp514Gly)
n.775T>G
n.6238T>G
c.201+1331T>G
n.630T>G
c.1537T>G (p.Trp513Gly)
c.1144T>G (p.Trp382Gly)
4g.186210604G>ACA358951267CYP4V2,KLKB1c.1541G>A (p.Trp514Ter)
n.776G>A
n.6239G>A
c.201+1332G>A
n.631G>A
c.1538G>A (p.Trp513Ter)
c.1145G>A (p.Trp382Ter)
4g.186210604G>CCA358951268CYP4V2,KLKB1c.1541G>C (p.Trp514Ser)
n.776G>C
n.6239G>C
c.201+1332G>C
n.631G>C
c.1538G>C (p.Trp513Ser)
c.1145G>C (p.Trp382Ser)
4g.186210604G>TCA358951269CYP4V2,KLKB1c.1541G>T (p.Trp514Leu)
n.776G>T
n.6239G>T
c.201+1332G>T
n.631G>T
c.1538G>T (p.Trp513Leu)
c.1145G>T (p.Trp382Leu)
4g.186210605G>ACA358951272CYP4V2,KLKB1c.1542G>A (p.Trp514Ter)
n.777G>A
n.6240G>A
c.201+1333G>A
n.632G>A
c.1539G>A (p.Trp513Ter)
c.1146G>A (p.Trp382Ter)
4g.186210605G>CCA358951274CYP4V2,KLKB1c.1542G>C (p.Trp514Cys)
n.777G>C
n.6240G>C
c.201+1333G>C
n.632G>C
c.1539G>C (p.Trp513Cys)
c.1146G>C (p.Trp382Cys)
4g.186210605G>TCA358951277CYP4V2,KLKB1c.1542G>T (p.Trp514Cys)
n.777G>T
n.6240G>T
c.201+1333G>T
n.632G>T
c.1539G>T (p.Trp513Cys)
c.1146G>T (p.Trp382Cys)
gnomAD v4 COSMIC
4g.186210606A>CCA358951283CYP4V2,KLKB1c.1543A>C (p.Ile515Leu)
n.778A>C
n.6241A>C
c.201+1334A>C
n.633A>C
c.1540A>C (p.Ile514Leu)
c.1147A>C (p.Ile383Leu)
4g.186210606A>GCA358951286CYP4V2,KLKB1c.1543A>G (p.Ile515Val)
n.778A>G
n.6241A>G
c.201+1334A>G
n.633A>G
c.1540A>G (p.Ile514Val)
c.1147A>G (p.Ile383Val)
4g.186210606A>TCA358951281CYP4V2,KLKB1c.1543A>T (p.Ile515Phe)
n.778A>T
n.6241A>T
c.201+1334A>T
n.633A>T
c.1540A>T (p.Ile514Phe)
c.1147A>T (p.Ile383Phe)
4g.186210607T>ACA358951290CYP4V2,KLKB1c.1544T>A (p.Ile515Asn)
n.779T>A
n.6242T>A
c.201+1335T>A
n.634T>A
c.1541T>A (p.Ile514Asn)
c.1148T>A (p.Ile383Asn)
4g.186210607T>CCA358951292CYP4V2,KLKB1c.1544T>C (p.Ile515Thr)
n.779T>C
n.6242T>C
c.201+1335T>C
n.634T>C
c.1541T>C (p.Ile514Thr)
c.1148T>C (p.Ile383Thr)
4g.186210607T>GCA358951295CYP4V2,KLKB1c.1544T>G (p.Ile515Ser)
n.779T>G
n.6242T>G
c.201+1335T>G
n.634T>G
c.1541T>G (p.Ile514Ser)
c.1148T>G (p.Ile383Ser)
4g.186210608C>ACA442641248CYP4V2,KLKB1c.1545C>A (p.Ile515=)
n.780C>A
n.6243C>A
c.201+1336C>A
n.635C>A
c.1542C>A (p.Ile514=)
c.1149C>A (p.Ile383=)
4g.186210608C=CA1519892108CYP4V2,KLKB1c.1545C= (p.Ile515=)
n.780C=
n.6243C=
c.201+1336C=
n.635C=
c.1542C= (p.Ile514=)
c.1149C= (p.Ile383=)
4g.186210608C>GCA358951296CYP4V2,KLKB1c.1545C>G (p.Ile515Met)
n.780C>G
n.6243C>G
c.201+1336C>G
n.635C>G
c.1542C>G (p.Ile514Met)
c.1149C>G (p.Ile383Met)
COSMIC
4g.186210608C>TCA442641249CYP4V2,KLKB1c.1545C>T (p.Ile515=)
n.780C>T
n.6243C>T
c.201+1336C>T
n.635C>T
c.1542C>T (p.Ile514=)
c.1149C>T (p.Ile383=)
dbSNP gnomAD v2 gnomAD v4
4g.186210609A>CCA358951299CYP4V2,KLKB1c.1546A>C (p.Lys516Gln)
n.781A>C
n.6244A>C
c.201+1337A>C
n.636A>C
c.1543A>C (p.Lys515Gln)
c.1150A>C (p.Lys384Gln)
4g.186210609A>GCA358951301CYP4V2,KLKB1c.1546A>G (p.Lys516Glu)
n.781A>G
n.6244A>G
c.201+1337A>G
n.636A>G
c.1543A>G (p.Lys515Glu)
c.1150A>G (p.Lys384Glu)
4g.186210609A>TCA358951304CYP4V2,KLKB1c.1546A>T (p.Lys516Ter)
n.781A>T
n.6244A>T
c.201+1337A>T
n.636A>T
c.1543A>T (p.Lys515Ter)
c.1150A>T (p.Lys384Ter)
4g.186210610A>CCA358951306CYP4V2,KLKB1c.1547A>C (p.Lys516Thr)
n.782A>C
n.6245A>C
c.201+1338A>C
n.637A>C
c.1544A>C (p.Lys515Thr)
c.1151A>C (p.Lys384Thr)
4g.186210610A>GCA358951309CYP4V2,KLKB1c.1547A>G (p.Lys516Arg)
n.782A>G
n.6245A>G
c.201+1338A>G
n.637A>G
c.1544A>G (p.Lys515Arg)
c.1151A>G (p.Lys384Arg)
4g.186210610A>TCA358951311CYP4V2,KLKB1c.1547A>T (p.Lys516Met)
n.782A>T
n.6245A>T
c.201+1338A>T
n.637A>T
c.1544A>T (p.Lys515Met)
c.1151A>T (p.Lys384Met)
4g.186210611G>ACA442641250CYP4V2,KLKB1c.1548G>A (p.Lys516=)
n.783G>A
n.6246G>A
c.201+1339G>A
n.638G>A
c.1545G>A (p.Lys515=)
c.1152G>A (p.Lys384=)
4g.186210611G>CCA358951314CYP4V2,KLKB1c.1548G>C (p.Lys516Asn)
n.783G>C
n.6246G>C
c.201+1339G>C
n.638G>C
c.1545G>C (p.Lys515Asn)
c.1152G>C (p.Lys384Asn)
4g.186210611G>TCA358951317CYP4V2,KLKB1c.1548G>T (p.Lys516Asn)
n.783G>T
n.6246G>T
c.201+1339G>T
n.638G>T
c.1545G>T (p.Lys515Asn)
c.1152G>T (p.Lys384Asn)
4g.186210612T>ACA358951320CYP4V2,KLKB1c.1549T>A (p.Leu517Met)
n.784T>A
n.6247T>A
c.201+1340T>A
n.639T>A
c.1546T>A (p.Leu516Met)
c.1153T>A (p.Leu385Met)
4g.186210612T>CCA442641251CYP4V2,KLKB1c.1549T>C (p.Leu517=)
n.784T>C
n.6247T>C
c.201+1340T>C
n.639T>C
c.1546T>C (p.Leu516=)
c.1153T>C (p.Leu385=)
4g.186210612T>GCA358951321CYP4V2,KLKB1c.1549T>G (p.Leu517Val)
n.784T>G
n.6247T>G
c.201+1340T>G
n.639T>G
c.1546T>G (p.Leu516Val)
c.1153T>G (p.Leu385Val)
4g.186210613T>ACA358951324CYP4V2,KLKB1c.1550T>A (p.Leu517Ter)
n.785T>A
n.6248T>A
c.201+1341T>A
n.640T>A
c.1547T>A (p.Leu516Ter)
c.1154T>A (p.Leu385Ter)
4g.186210613T>CCA358951326CYP4V2,KLKB1c.1550T>C (p.Leu517Ser)
n.785T>C
n.6248T>C
c.201+1341T>C
n.640T>C
c.1547T>C (p.Leu516Ser)
c.1154T>C (p.Leu385Ser)
4g.186210613T>GCA358951328CYP4V2,KLKB1c.1550T>G (p.Leu517Trp)
n.785T>G
n.6248T>G
c.201+1341T>G
n.640T>G
c.1547T>G (p.Leu516Trp)
c.1154T>G (p.Leu385Trp)
4g.186210614G>ACA442641252CYP4V2,KLKB1c.1551G>A (p.Leu517=)
n.786G>A
n.6249G>A
c.201+1342G>A
n.641G>A
c.1548G>A (p.Leu516=)
c.1155G>A (p.Leu385=)
4g.186210614G>CCA358951330CYP4V2,KLKB1c.1551G>C (p.Leu517Phe)
n.786G>C
n.6249G>C
c.201+1342G>C
n.641G>C
c.1548G>C (p.Leu516Phe)
c.1155G>C (p.Leu385Phe)
4g.186210614G>TCA358951332CYP4V2,KLKB1c.1551G>T (p.Leu517Phe)
n.786G>T
n.6249G>T
c.201+1342G>T
n.641G>T
c.1548G>T (p.Leu516Phe)
c.1155G>T (p.Leu385Phe)
4g.186210617_186210624delCA2578249743CYP4V2,KLKB1c.1554_1561del (p.Arg519CysfsTer3)
n.789_796del
n.6252_6259del
c.201+1345_201+1352del
n.644_651del
c.1551_1558del (p.Arg518CysfsTer3)
c.1158_1165del (p.Arg387CysfsTer3)
4g.186210615A>CCA358951335CYP4V2,KLKB1c.1552A>C (p.Lys518Gln)
n.787A>C
n.6250A>C
c.201+1343A>C
n.642A>C
c.1549A>C (p.Lys517Gln)
c.1156A>C (p.Lys386Gln)
4g.186210615A>GCA358951338CYP4V2,KLKB1c.1552A>G (p.Lys518Glu)
n.787A>G
n.6250A>G
c.201+1343A>G
n.642A>G
c.1549A>G (p.Lys517Glu)
c.1156A>G (p.Lys386Glu)
COSMIC
4g.186210615A>TCA358951340CYP4V2,KLKB1c.1552A>T (p.Lys518Ter)
n.787A>T
n.6250A>T
c.201+1343A>T
n.642A>T
c.1549A>T (p.Lys517Ter)
c.1156A>T (p.Lys386Ter)
4g.186210616A=CA1519892109CYP4V2,KLKB1c.1553A= (p.Lys518=)
n.788A=
n.6251A=
c.201+1344A=
n.643A=
c.1550A= (p.Lys517=)
c.1157A= (p.Lys386=)
4g.186210616A>CCA358951344CYP4V2,KLKB1c.1553A>C (p.Lys518Thr)
n.788A>C
n.6251A>C
c.201+1344A>C
n.643A>C
c.1550A>C (p.Lys517Thr)
c.1157A>C (p.Lys386Thr)
dbSNP gnomAD v4
4g.186210616A>GCA358951345CYP4V2,KLKB1c.1553A>G (p.Lys518Arg)
n.788A>G
n.6251A>G
c.201+1344A>G
n.643A>G
c.1550A>G (p.Lys517Arg)
c.1157A>G (p.Lys386Arg)
dbSNP gnomAD v3 gnomAD v4
4g.186210616A>TCA358951348CYP4V2,KLKB1c.1553A>T (p.Lys518Met)
n.788A>T
n.6251A>T
c.201+1344A>T
n.643A>T
c.1550A>T (p.Lys517Met)
c.1157A>T (p.Lys386Met)
4g.186210616_186210619delinsAGAGCA1519892110CYP4V2,KLKB1c.1553_1556delinsAGAG (p.Lys518=)
n.788_791delinsAGAG
n.6251_6254delinsAGAG
c.201+1344_201+1347delinsAGAG
n.643_646delinsAGAG
c.1550_1553delinsAGAG (p.Lys517=)
c.1157_1160delinsAGAG (p.Lys386=)
4g.186210617G>ACA442641253CYP4V2,KLKB1c.1554G>A (p.Lys518=)
n.789G>A
n.6252G>A
c.201+1345G>A
n.644G>A
c.1551G>A (p.Lys517=)
c.1158G>A (p.Lys386=)
gnomAD v4
4g.186210617G>CCA358951357CYP4V2,KLKB1c.1554G>C (p.Lys518Asn)
n.789G>C
n.6252G>C
c.201+1345G>C
n.644G>C
c.1551G>C (p.Lys517Asn)
c.1158G>C (p.Lys386Asn)
4g.186210617G>TCA358951355CYP4V2,KLKB1c.1554G>T (p.Lys518Asn)
n.789G>T
n.6252G>T
c.201+1345G>T
n.644G>T
c.1551G>T (p.Lys517Asn)
c.1158G>T (p.Lys386Asn)
4g.186210620_186210622delCA3162891CYP4V2,KLKB1c.1557_1559del (p.Arg520del)
n.792_794del
n.6255_6257del
c.201+1348_201+1350del
n.647_649del
c.1554_1556del (p.Arg519del)
c.1161_1163del (p.Arg388del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210618A>CCA442641254CYP4V2,KLKB1c.1555A>C (p.Arg519=)
n.790A>C
n.6253A>C
c.201+1346A>C
n.645A>C
c.1552A>C (p.Arg518=)
c.1159A>C (p.Arg387=)
4g.186210618A>GCA358951359CYP4V2,KLKB1c.1555A>G (p.Arg519Gly)
n.790A>G
n.6253A>G
c.201+1346A>G
n.645A>G
c.1552A>G (p.Arg518Gly)
c.1159A>G (p.Arg387Gly)
4g.186210618A>TCA358951360CYP4V2,KLKB1c.1555A>T (p.Arg519Trp)
n.790A>T
n.6253A>T
c.201+1346A>T
n.645A>T
c.1552A>T (p.Arg518Trp)
c.1159A>T (p.Arg387Trp)
4g.186210619G>ACA358951364CYP4V2,KLKB1c.1556G>A (p.Arg519Lys)
n.791G>A
n.6254G>A
c.201+1347G>A
n.646G>A
c.1553G>A (p.Arg518Lys)
c.1160G>A (p.Arg387Lys)
4g.186210619G>CCA358951366CYP4V2,KLKB1c.1556G>C (p.Arg519Thr)
n.791G>C
n.6254G>C
c.201+1347G>C
n.646G>C
c.1553G>C (p.Arg518Thr)
c.1160G>C (p.Arg387Thr)
4g.186210619G=CA1519892111CYP4V2,KLKB1c.1556G= (p.Arg519=)
n.791G=
n.6254G=
c.201+1347G=
n.646G=
c.1553G= (p.Arg518=)
c.1160G= (p.Arg387=)
4g.186210619G>TCA358951369CYP4V2,KLKB1c.1556G>T (p.Arg519Met)
n.791G>T
n.6254G>T
c.201+1347G>T
n.646G>T
c.1553G>T (p.Arg518Met)
c.1160G>T (p.Arg387Met)
dbSNP gnomAD v2
4g.186210620G>ACA3162892CYP4V2,KLKB1c.1557G>A (p.Arg519=)
n.792G>A
n.6255G>A
c.201+1348G>A
n.647G>A
c.1554G>A (p.Arg518=)
c.1161G>A (p.Arg387=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210620G>CCA358951372CYP4V2,KLKB1c.1557G>C (p.Arg519Ser)
n.792G>C
n.6255G>C
c.201+1348G>C
n.647G>C
c.1554G>C (p.Arg518Ser)
c.1161G>C (p.Arg387Ser)
ClinVar dbSNP gnomAD v4
4g.186210620G=CA1519892112CYP4V2,KLKB1c.1557G= (p.Arg519=)
n.792G=
n.6255G=
c.201+1348G=
n.647G=
c.1554G= (p.Arg518=)
c.1161G= (p.Arg387=)
4g.186210620G>TCA358951374CYP4V2,KLKB1c.1557G>T (p.Arg519Ser)
n.792G>T
n.6255G>T
c.201+1348G>T
n.647G>T
c.1554G>T (p.Arg518Ser)
c.1161G>T (p.Arg387Ser)
4g.186210621A>CCA442641255CYP4V2,KLKB1c.1558A>C (p.Arg520=)
n.793A>C
n.6256A>C
c.201+1349A>C
n.648A>C
c.1555A>C (p.Arg519=)
c.1162A>C (p.Arg388=)
4g.186210621A>GCA358951377CYP4V2,KLKB1c.1558A>G (p.Arg520Gly)
n.793A>G
n.6256A>G
c.201+1349A>G
n.648A>G
c.1555A>G (p.Arg519Gly)
c.1162A>G (p.Arg388Gly)
4g.186210621A>TCA358951380CYP4V2,KLKB1c.1558A>T (p.Arg520Ter)
n.793A>T
n.6256A>T
c.201+1349A>T
n.648A>T
c.1555A>T (p.Arg519Ter)
c.1162A>T (p.Arg388Ter)
4g.186210622G>ACA358951383CYP4V2,KLKB1c.1559G>A (p.Arg520Lys)
n.794G>A
n.6257G>A
c.201+1350G>A
n.649G>A
c.1556G>A (p.Arg519Lys)
c.1163G>A (p.Arg388Lys)
dbSNP
4g.186210622G>CCA358951385CYP4V2,KLKB1c.1559G>C (p.Arg520Thr)
n.794G>C
n.6257G>C
c.201+1350G>C
n.649G>C
c.1556G>C (p.Arg519Thr)
c.1163G>C (p.Arg388Thr)
4g.186210622G=CA1519892113CYP4V2,KLKB1c.1559G= (p.Arg520=)
n.794G=
n.6257G=
c.201+1350G=
n.649G=
c.1556G= (p.Arg519=)
c.1163G= (p.Arg388=)
4g.186210622G>TCA358951388CYP4V2,KLKB1c.1559G>T (p.Arg520Ile)
n.794G>T
n.6257G>T
c.201+1350G>T
n.649G>T
c.1556G>T (p.Arg519Ile)
c.1163G>T (p.Arg388Ile)
4g.186210623A>CCA358951391CYP4V2,KLKB1c.1560A>C (p.Arg520Ser)
n.795A>C
n.6258A>C
c.201+1351A>C
n.650A>C
c.1557A>C (p.Arg519Ser)
c.1164A>C (p.Arg388Ser)
4g.186210623A>GCA442641256CYP4V2,KLKB1c.1560A>G (p.Arg520=)
n.795A>G
n.6258A>G
c.201+1351A>G
n.650A>G
c.1557A>G (p.Arg519=)
c.1164A>G (p.Arg388=)
4g.186210623A>TCA358951392CYP4V2,KLKB1c.1560A>T (p.Arg520Ser)
n.795A>T
n.6258A>T
c.201+1351A>T
n.650A>T
c.1557A>T (p.Arg519Ser)
c.1164A>T (p.Arg388Ser)
4g.186210624A=CA1519892114CYP4V2,KLKB1c.1561A= (p.Asn521=)
n.796A=
n.6259A=
c.201+1352A=
n.651A=
c.1558A= (p.Asn520=)
c.1165A= (p.Asn389=)
4g.186210624A>CCA358951401CYP4V2,KLKB1c.1561A>C (p.Asn521His)
n.796A>C
n.6259A>C
c.201+1352A>C
n.651A>C
c.1558A>C (p.Asn520His)
c.1165A>C (p.Asn389His)
4g.186210624A>GCA358951399CYP4V2,KLKB1c.1561A>G (p.Asn521Asp)
n.796A>G
n.6259A>G
c.201+1352A>G
n.651A>G
c.1558A>G (p.Asn520Asp)
c.1165A>G (p.Asn389Asp)
dbSNP gnomAD v4
4g.186210624A>TCA3162893CYP4V2,KLKB1c.1561A>T (p.Asn521Tyr)
n.796A>T
n.6259A>T
c.201+1352A>T
n.651A>T
c.1558A>T (p.Asn520Tyr)
c.1165A>T (p.Asn389Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210625A>CCA358951404CYP4V2,KLKB1c.1562A>C (p.Asn521Thr)
n.797A>C
n.6260A>C
c.201+1353A>C
n.652A>C
c.1559A>C (p.Asn520Thr)
c.1166A>C (p.Asn389Thr)
4g.186210625A>GCA358951405CYP4V2,KLKB1c.1562A>G (p.Asn521Ser)
n.797A>G
n.6260A>G
c.201+1353A>G
n.652A>G
c.1559A>G (p.Asn520Ser)
c.1166A>G (p.Asn389Ser)
gnomAD v4
4g.186210625A>TCA358951406CYP4V2,KLKB1c.1562A>T (p.Asn521Ile)
n.797A>T
n.6260A>T
c.201+1353A>T
n.652A>T
c.1559A>T (p.Asn520Ile)
c.1166A>T (p.Asn389Ile)
4g.186210626T>ACA358951408CYP4V2,KLKB1c.1563T>A (p.Asn521Lys)
n.798T>A
n.6261T>A
c.201+1354T>A
n.653T>A
c.1560T>A (p.Asn520Lys)
c.1167T>A (p.Asn389Lys)
4g.186210626T>CCA3162894CYP4V2,KLKB1c.1563T>C (p.Asn521=)
n.798T>C
n.6261T>C
c.201+1354T>C
n.653T>C
c.1560T>C (p.Asn520=)
c.1167T>C (p.Asn389=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210626T>GCA358951410CYP4V2,KLKB1c.1563T>G (p.Asn521Lys)
n.798T>G
n.6261T>G
c.201+1354T>G
n.653T>G
c.1560T>G (p.Asn520Lys)
c.1167T>G (p.Asn389Lys)
4g.186210626T=CA1519892115CYP4V2,KLKB1c.1563T= (p.Asn521=)
n.798T=
n.6261T=
c.201+1354T=
n.653T=
c.1560T= (p.Asn520=)
c.1167T= (p.Asn389=)
4g.186210627G>ACA358951420CYP4V2,KLKB1c.1564G>A (p.Ala522Thr)
n.799G>A
n.6262G>A
c.201+1355G>A
n.654G>A
c.1561G>A (p.Ala521Thr)
c.1168G>A (p.Ala390Thr)
4g.186210627G>CCA358951412CYP4V2,KLKB1c.1564G>C (p.Ala522Pro)
n.799G>C
n.6262G>C
c.201+1355G>C
n.654G>C
c.1561G>C (p.Ala521Pro)
c.1168G>C (p.Ala390Pro)
4g.186210627G>TCA358951415CYP4V2,KLKB1c.1564G>T (p.Ala522Ser)
n.799G>T
n.6262G>T
c.201+1355G>T
n.654G>T
c.1561G>T (p.Ala521Ser)
c.1168G>T (p.Ala390Ser)
4g.186210628C>ACA358951422CYP4V2,KLKB1c.1565C>A (p.Ala522Glu)
n.800C>A
n.6263C>A
c.201+1356C>A
n.655C>A
c.1562C>A (p.Ala521Glu)
c.1169C>A (p.Ala390Glu)
4g.186210628C=CA1519892116CYP4V2,KLKB1c.1565C= (p.Ala522=)
n.800C=
n.6263C=
c.201+1356C=
n.655C=
c.1562C= (p.Ala521=)
c.1169C= (p.Ala390=)
4g.186210628C>GCA358951423CYP4V2,KLKB1c.1565C>G (p.Ala522Gly)
n.800C>G
n.6263C>G
c.201+1356C>G
n.655C>G
c.1562C>G (p.Ala521Gly)
c.1169C>G (p.Ala390Gly)
dbSNP gnomAD v3 gnomAD v4
4g.186210628C>TCA358951425CYP4V2,KLKB1c.1565C>T (p.Ala522Val)
n.800C>T
n.6263C>T
c.201+1356C>T
n.655C>T
c.1562C>T (p.Ala521Val)
c.1169C>T (p.Ala390Val)
dbSNP gnomAD v2
4g.186210629A>CCA442641257CYP4V2,KLKB1c.1566A>C (p.Ala522=)
n.801A>C
n.6264A>C
c.201+1357A>C
n.656A>C
c.1563A>C (p.Ala521=)
c.1170A>C (p.Ala390=)
4g.186210629A>GCA442641258CYP4V2,KLKB1c.1566A>G (p.Ala522=)
n.801A>G
n.6264A>G
c.201+1357A>G
n.656A>G
c.1563A>G (p.Ala521=)
c.1170A>G (p.Ala390=)
4g.186210629A>TCA442641259CYP4V2,KLKB1c.1566A>T (p.Ala522=)
n.801A>T
n.6264A>T
c.201+1357A>T
n.656A>T
c.1563A>T (p.Ala521=)
c.1170A>T (p.Ala390=)
4g.186210630G>ACA3162895CYP4V2,KLKB1c.1567G>A (p.Asp523Asn)
n.802G>A
n.6265G>A
c.201+1358G>A
n.657G>A
c.1564G>A (p.Asp522Asn)
c.1171G>A (p.Asp391Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210630G>CCA358951429CYP4V2,KLKB1c.1567G>C (p.Asp523His)
n.802G>C
n.6265G>C
c.201+1358G>C
n.657G>C
c.1564G>C (p.Asp522His)
c.1171G>C (p.Asp391His)
4g.186210630G=CA1519892117CYP4V2,KLKB1c.1567G= (p.Asp523=)
n.802G=
n.6265G=
c.201+1358G=
n.657G=
c.1564G= (p.Asp522=)
c.1171G= (p.Asp391=)
4g.186210630G>TCA358951431CYP4V2,KLKB1c.1567G>T (p.Asp523Tyr)
n.802G>T
n.6265G>T
c.201+1358G>T
n.657G>T
c.1564G>T (p.Asp522Tyr)
c.1171G>T (p.Asp391Tyr)
4g.186210631A>CCA358951442CYP4V2,KLKB1c.1568A>C (p.Asp523Ala)
n.803A>C
n.6266A>C
c.201+1359A>C
n.658A>C
c.1565A>C (p.Asp522Ala)
c.1172A>C (p.Asp391Ala)
4g.186210631A>GCA358951447CYP4V2,KLKB1c.1568A>G (p.Asp523Gly)
n.803A>G
n.6266A>G
c.201+1359A>G
n.658A>G
c.1565A>G (p.Asp522Gly)
c.1172A>G (p.Asp391Gly)
4g.186210631A>TCA358951440CYP4V2,KLKB1c.1568A>T (p.Asp523Val)
n.803A>T
n.6266A>T
c.201+1359A>T
n.658A>T
c.1565A>T (p.Asp522Val)
c.1172A>T (p.Asp391Val)
gnomAD v4
4g.186210632T>ACA358951453CYP4V2,KLKB1c.1569T>A (p.Asp523Glu)
n.804T>A
n.6267T>A
c.201+1360T>A
n.659T>A
c.1566T>A (p.Asp522Glu)
c.1173T>A (p.Asp391Glu)
4g.186210632T>CCA442641260CYP4V2,KLKB1c.1569T>C (p.Asp523=)
n.804T>C
n.6267T>C
c.201+1360T>C
n.659T>C
c.1566T>C (p.Asp522=)
c.1173T>C (p.Asp391=)
4g.186210632T>GCA358951450CYP4V2,KLKB1c.1569T>G (p.Asp523Glu)
n.804T>G
n.6267T>G
c.201+1360T>G
n.659T>G
c.1566T>G (p.Asp522Glu)
c.1173T>G (p.Asp391Glu)
4g.186210633G>ACA358951459CYP4V2,KLKB1c.1570G>A (p.Glu524Lys)
n.805G>A
n.6268G>A
c.201+1361G>A
n.660G>A
c.1567G>A (p.Glu523Lys)
c.1174G>A (p.Glu392Lys)
4g.186210633G>CCA358951457CYP4V2,KLKB1c.1570G>C (p.Glu524Gln)
n.805G>C
n.6268G>C
c.201+1361G>C
n.660G>C
c.1567G>C (p.Glu523Gln)
c.1174G>C (p.Glu392Gln)
4g.186210633G>TCA358951461CYP4V2,KLKB1c.1570G>T (p.Glu524Ter)
n.805G>T
n.6268G>T
c.201+1361G>T
n.660G>T
c.1567G>T (p.Glu523Ter)
c.1174G>T (p.Glu392Ter)
4g.186210634A>CCA358951464CYP4V2,KLKB1c.1571A>C (p.Glu524Ala)
n.806A>C
n.6269A>C
c.201+1362A>C
n.661A>C
c.1568A>C (p.Glu523Ala)
c.1175A>C (p.Glu392Ala)
COSMIC
4g.186210634A>GCA358951469CYP4V2,KLKB1c.1571A>G (p.Glu524Gly)
n.806A>G
n.6269A>G
c.201+1362A>G
n.661A>G
c.1568A>G (p.Glu523Gly)
c.1175A>G (p.Glu392Gly)
4g.186210634A>TCA358951465CYP4V2,KLKB1c.1571A>T (p.Glu524Val)
n.806A>T
n.6269A>T
c.201+1362A>T
n.661A>T
c.1568A>T (p.Glu523Val)
c.1175A>T (p.Glu392Val)
4g.186210635A>CCA358951471CYP4V2,KLKB1c.1572A>C (p.Glu524Asp)
n.807A>C
n.6270A>C
c.201+1363A>C
n.662A>C
c.1569A>C (p.Glu523Asp)
c.1176A>C (p.Glu392Asp)
4g.186210635A>GCA442641261CYP4V2,KLKB1c.1572A>G (p.Glu524=)
n.807A>G
n.6270A>G
c.201+1363A>G
n.662A>G
c.1569A>G (p.Glu523=)
c.1176A>G (p.Glu392=)
4g.186210635A>TCA358951472CYP4V2,KLKB1c.1572A>T (p.Glu524Asp)
n.807A>T
n.6270A>T
c.201+1363A>T
n.662A>T
c.1569A>T (p.Glu523Asp)
c.1176A>T (p.Glu392Asp)
4g.186210636C>ACA3162896CYP4V2,KLKB1c.1573C>A (p.Arg525Ser)
n.808C>A
n.6271C>A
c.201+1364C>A
n.663C>A
c.1570C>A (p.Arg524Ser)
c.1177C>A (p.Arg393Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210636C=CA1519892118CYP4V2,KLKB1c.1573C= (p.Arg525=)
n.808C=
n.6271C=
c.201+1364C=
n.663C=
c.1570C= (p.Arg524=)
c.1177C= (p.Arg393=)
4g.186210636C>GCA358951477CYP4V2,KLKB1c.1573C>G (p.Arg525Gly)
n.808C>G
n.6271C>G
c.201+1364C>G
n.663C>G
c.1570C>G (p.Arg524Gly)
c.1177C>G (p.Arg393Gly)
4g.186210636C>TCA3162897CYP4V2,KLKB1c.1573C>T (p.Arg525Cys)
n.808C>T
n.6271C>T
c.201+1364C>T
n.663C>T
c.1570C>T (p.Arg524Cys)
c.1177C>T (p.Arg393Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210637G>ACA3162898CYP4V2,KLKB1c.1574G>A (p.Arg525His)
n.809G>A
n.6272G>A
c.201+1365G>A
n.664G>A
c.1571G>A (p.Arg524His)
c.1178G>A (p.Arg393His)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210637G>CCA358951483CYP4V2,KLKB1c.1574G>C (p.Arg525Pro)
n.809G>C
n.6272G>C
c.201+1365G>C
n.664G>C
c.1571G>C (p.Arg524Pro)
c.1178G>C (p.Arg393Pro)
4g.186210637G=CA1519892119CYP4V2,KLKB1c.1574G= (p.Arg525=)
n.809G=
n.6272G=
c.201+1365G=
n.664G=
c.1571G= (p.Arg524=)
c.1178G= (p.Arg393=)
4g.186210637G>TCA358951485CYP4V2,KLKB1c.1574G>T (p.Arg525Leu)
n.809G>T
n.6272G>T
c.201+1365G>T
n.664G>T
c.1571G>T (p.Arg524Leu)
c.1178G>T (p.Arg393Leu)
4g.186210638C>ACA442641262CYP4V2,KLKB1c.1575C>A (p.Arg525=)
n.810C>A
n.6273C>A
c.201+1366C>A
n.665C>A
c.1572C>A (p.Arg524=)
c.1179C>A (p.Arg393=)
4g.186210638C>GCA442641263CYP4V2,KLKB1c.1575C>G (p.Arg525=)
n.810C>G
n.6273C>G
c.201+1366C>G
n.665C>G
c.1572C>G (p.Arg524=)
c.1179C>G (p.Arg393=)
4g.186210638C>TCA442641264CYP4V2,KLKB1c.1575C>T (p.Arg525=)
n.810C>T
n.6273C>T
c.201+1366C>T
n.665C>T
c.1572C>T (p.Arg524=)
c.1179C>T (p.Arg393=)
4g.186210639T>ACA358951488CYP4V2,KLKB1c.1576T>A (p.Ter526Lys)
n.811T>A
n.6274T>A
c.201+1367T>A
n.666T>A
c.1573T>A (p.Ter525Lys)
c.1180T>A (p.Ter394Lys)
4g.186210639T>CCA358951490CYP4V2,KLKB1c.1576T>C (p.Ter526Gln)
n.811T>C
n.6274T>C
c.201+1367T>C
n.666T>C
c.1573T>C (p.Ter525Gln)
c.1180T>C (p.Ter394Gln)
4g.186210639T>GCA358951491CYP4V2,KLKB1c.1576T>G (p.Ter526Glu)
n.811T>G
n.6274T>G
c.201+1367T>G
n.666T>G
c.1573T>G (p.Ter525Glu)
c.1180T>G (p.Ter394Glu)
4g.186210640A>CCA358951492CYP4V2,KLKB1c.1577A>C (p.Ter526Ser)
n.812A>C
n.6275A>C
c.201+1368A>C
n.667A>C
c.1574A>C (p.Ter525Ser)
c.1181A>C (p.Ter394Ser)
4g.186210640A>GCA442641265CYP4V2,KLKB1c.1577A>G (p.Ter526=)
n.812A>G
n.6275A>G
c.201+1368A>G
n.667A>G
c.1574A>G (p.Ter525=)
c.1181A>G (p.Ter394=)
4g.186210640A>TCA358951494CYP4V2,KLKB1c.1577A>T (p.Ter526Leu)
n.812A>T
n.6275A>T
c.201+1368A>T
n.667A>T
c.1574A>T (p.Ter525Leu)
c.1181A>T (p.Ter394Leu)
4g.186210641A>CCA358951497CYP4V2,KLKB1c.1578A>C (p.Ter526Tyr)
n.813A>C
n.6276A>C
c.201+1369A>C
n.668A>C
c.1575A>C (p.Ter525Tyr)
c.1182A>C (p.Ter394Tyr)
4g.186210641A>GCA442641266CYP4V2,KLKB1c.1578A>G (p.Ter526=)
n.813A>G
n.6276A>G
c.201+1369A>G
n.668A>G
c.1575A>G (p.Ter525=)
c.1182A>G (p.Ter394=)
4g.186210641A>TCA358951499CYP4V2,KLKB1c.1578A>T (p.Ter526Tyr)
n.813A>T
n.6276A>T
c.201+1369A>T
n.668A>T
c.1575A>T (p.Ter525Tyr)
c.1182A>T (p.Ter394Tyr)
4g.186210642C=CA1519892120CYP4V2,KLKB1c.*1C= (n.*1C=)
n.814C=
n.6277C=
c.201+1370C=
n.669C=
4g.186210642C>GCA1519892121CYP4V2,KLKB1c.*1C>G (n.*1C>G)
n.814C>G
n.6277C>G
c.201+1370C>G
n.669C>G
dbSNP
4g.186210644A=CA1519892122CYP4V2,KLKB1c.*3A= (n.*3A=)
n.816A=
n.6279A=
c.201+1372A=
n.671A=
4g.186210644A>CCA3162900CYP4V2,KLKB1c.*3A>C (n.*3A>C)
n.816A>C
n.6279A>C
c.201+1372A>C
n.671A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210644A>GCA3162899CYP4V2,KLKB1c.*3A>G (n.*3A>G)
n.816A>G
n.6279A>G
c.201+1372A>G
n.671A>G
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210645T>ACA2581400249CYP4V2,KLKB1c.*4T>A (n.*4T>A)
n.817T>A
n.6280T>A
c.201+1373T>A
n.672T>A
4g.186210645T>CCA179962CYP4V2,KLKB1c.*4T>C (n.*4T>C)
n.817T>C
n.6280T>C
c.201+1373T>C
n.672T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210645T>GCA2581400250CYP4V2,KLKB1c.*4T>G (n.*4T>G)
n.817T>G
n.6280T>G
c.201+1373T>G
n.672T>G
4g.186210645T=CA1519892123CYP4V2,KLKB1c.*4T= (n.*4T=)
n.817T=
n.6280T=
c.201+1373T=
n.672T=
4g.186210646A=CA1519892124CYP4V2,KLKB1c.*5A= (n.*5A=)
n.818A=
n.6281A=
c.201+1374A=
n.673A=
4g.186210646A>GCA112136717CYP4V2,KLKB1c.*5A>G (n.*5A>G)
n.818A>G
n.6281A>G
c.201+1374A>G
n.673A>G
dbSNP gnomAD v3 gnomAD v4
4g.186210647T>CCA3162901CYP4V2,KLKB1c.*6T>C (n.*6T>C)
n.819T>C
n.6282T>C
c.201+1375T>C
n.674T>C
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210647T>GCA2672898279CYP4V2,KLKB1c.*6T>G (n.*6T>G)
n.819T>G
n.6282T>G
c.201+1375T>G
n.674T>G
gnomAD v4
4g.186210647T=CA1519892125CYP4V2,KLKB1c.*6T= (n.*6T=)
n.819T=
n.6282T=
c.201+1375T=
n.674T=
4g.186210648T>GCA1519892127CYP4V2,KLKB1c.*7T>G (n.*7T>G)
n.820T>G
n.6283T>G
c.201+1376T>G
n.675T>G
dbSNP
4g.186210648T=CA1519892126CYP4V2,KLKB1c.*7T= (n.*7T=)
n.820T=
n.6283T=
c.201+1376T=
n.675T=
4g.186210649A=CA1519892128CYP4V2,KLKB1c.*8A= (n.*8A=)
n.821A=
n.6284A=
c.201+1377A=
n.676A=
4g.186210649A>GCA3162902CYP4V2,KLKB1c.*8A>G (n.*8A>G)
n.821A>G
n.6284A>G
c.201+1377A>G
n.676A>G
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210650T>CCA2578249744CYP4V2,KLKB1c.*9T>C (n.*9T>C)
n.822T>C
n.6285T>C
c.201+1378T>C
n.677T>C
gnomAD v4
4g.186210651T>CCA2764874950CYP4V2,KLKB1c.*10T>C (n.*10T>C)
n.823T>C
n.6286T>C
c.201+1379T>C
n.678T>C
4g.186210652G>CCA3162903CYP4V2,KLKB1c.*11G>C (n.*11G>C)
n.824G>C
n.6287G>C
c.201+1380G>C
n.679G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210652G=CA1519892129CYP4V2,KLKB1c.*11G= (n.*11G=)
n.824G=
n.6287G=
c.201+1380G=
n.679G=
4g.186210653G=CA1519892130CYP4V2,KLKB1c.*12G= (n.*12G=)
n.825G=
n.6288G=
c.201+1381G=
n.680G=
4g.186210653G>TCA792329633CYP4V2,KLKB1c.*12G>T (n.*12G>T)
n.825G>T
n.6288G>T
c.201+1381G>T
n.680G>T
dbSNP gnomAD v3 gnomAD v4
4g.186210654G>ACA3162904CYP4V2,KLKB1c.*13G>A (n.*13G>A)
n.826G>A
n.6289G>A
c.201+1382G>A
n.681G>A
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210654G=CA1519892131CYP4V2,KLKB1c.*13G= (n.*13G=)
n.826G=
n.6289G=
c.201+1382G=
n.681G=
4g.186210656_186210658dupCA2672898280CYP4V2,KLKB1c.*15_*17dup (n.*15_*17dup)
n.828_830dup
n.6291_6293dup
c.201+1384_201+1386dup
n.683_685dup
gnomAD v4
4g.186210656T>CCA792329639CYP4V2,KLKB1c.*15T>C (n.*15T>C)
n.828T>C
n.6291T>C
c.201+1384T>C
n.683T>C
dbSNP gnomAD v3 gnomAD v4
4g.186210656T=CA1519892132CYP4V2,KLKB1c.*15T= (n.*15T=)
n.828T=
n.6291T=
c.201+1384T=
n.683T=
4g.186210657G>ACA557395945CYP4V2,KLKB1c.*16G>A (n.*16G>A)
n.829G>A
n.6292G>A
c.201+1385G>A
n.684G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186210657G=CA1519892133CYP4V2,KLKB1c.*16G= (n.*16G=)
n.829G=
n.6292G=
c.201+1385G=
n.684G=
4g.186210657G>TCA2672898281CYP4V2,KLKB1c.*16G>T (n.*16G>T)
n.829G>T
n.6292G>T
c.201+1385G>T
n.684G>T
gnomAD v4
4g.186210658T>CCA2672898282CYP4V2,KLKB1c.*17T>C (n.*17T>C)
n.830T>C
n.6293T>C
c.201+1386T>C
n.685T>C
gnomAD v4
4g.186210659G>ACA3162905CYP4V2,KLKB1c.*18G>A (n.*18G>A)
n.831G>A
n.6294G>A
c.201+1387G>A
n.686G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210659G=CA1519892134CYP4V2,KLKB1c.*18G= (n.*18G=)
n.831G=
n.6294G=
c.201+1387G=
n.686G=
4g.186210664delCA2740604705CYP4V2,KLKB1c.*23del (n.*23del)
n.836del
n.6299del
c.201+1392del
n.691del
4g.186210665A>CCA2578249745CYP4V2,KLKB1c.*24A>C (n.*24A>C)
n.837A>C
n.6300A>C
c.201+1393A>C
n.692A>C
4g.186210667C=CA1519892137CYP4V2,KLKB1c.*26C= (n.*26C=)
n.839C=
n.6302C=
c.201+1395C=
n.694C=
4g.186210667C>GCA1519892136CYP4V2,KLKB1c.*26C>G (n.*26C>G)
n.839C>G
n.6302C>G
c.201+1395C>G
n.694C>G
dbSNP
4g.186210667C>TCA1519892135CYP4V2,KLKB1c.*26C>T (n.*26C>T)
n.839C>T
n.6302C>T
c.201+1395C>T
n.694C>T
dbSNP gnomAD v4
4g.186210668A=CA1519892138CYP4V2,KLKB1c.*27A= (n.*27A=)
n.840A=
n.6303A=
c.201+1396A=
n.695A=
4g.186210668A>GCA1519892139CYP4V2,KLKB1c.*27A>G (n.*27A>G)
n.840A>G
n.6303A>G
c.201+1396A>G
n.695A>G
dbSNP
4g.186210669T>CCA2672898283CYP4V2,KLKB1c.*28T>C (n.*28T>C)
n.841T>C
n.6304T>C
c.201+1397T>C
n.696T>C
gnomAD v4

Number of alleles fetched