Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186210555G>ACA358951007CYP4V2,KLKB1c.1492G>A (p.Glu498Lys)
n.727G>A
n.6190G>A
c.201+1283G>A
n.582G>A
c.1489G>A (p.Glu497Lys)
c.1096G>A (p.Glu366Lys)
4g.186210555G>CCA3162878CYP4V2,KLKB1c.1492G>C (p.Glu498Gln)
n.727G>C
n.6190G>C
c.201+1283G>C
n.582G>C
c.1489G>C (p.Glu497Gln)
c.1096G>C (p.Glu366Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210555G=CA1519892085CYP4V2,KLKB1c.1492G= (p.Glu498=)
n.727G=
n.6190G=
c.201+1283G=
n.582G=
c.1489G= (p.Glu497=)
c.1096G= (p.Glu366=)
4g.186210555G>TCA358951004CYP4V2,KLKB1c.1492G>T (p.Glu498Ter)
n.727G>T
n.6190G>T
c.201+1283G>T
n.582G>T
c.1489G>T (p.Glu497Ter)
c.1096G>T (p.Glu366Ter)
4g.186210556A=CA1519892086CYP4V2,KLKB1c.1493A= (p.Glu498=)
n.728A=
n.6191A=
c.201+1284A=
n.583A=
c.1490A= (p.Glu497=)
c.1097A= (p.Glu366=)
4g.186210556A>CCA3162879CYP4V2,KLKB1c.1493A>C (p.Glu498Ala)
n.728A>C
n.6191A>C
c.201+1284A>C
n.583A>C
c.1490A>C (p.Glu497Ala)
c.1097A>C (p.Glu366Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210556A>GCA3162880CYP4V2,KLKB1c.1493A>G (p.Glu498Gly)
n.728A>G
n.6191A>G
c.201+1284A>G
n.583A>G
c.1490A>G (p.Glu497Gly)
c.1097A>G (p.Glu366Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210556A>TCA358951009CYP4V2,KLKB1c.1493A>T (p.Glu498Val)
n.728A>T
n.6191A>T
c.201+1284A>T
n.583A>T
c.1490A>T (p.Glu497Val)
c.1097A>T (p.Glu366Val)
4g.186210557G>ACA442641214CYP4V2,KLKB1c.1494G>A (p.Glu498=)
n.729G>A
n.6192G>A
c.201+1285G>A
n.584G>A
c.1491G>A (p.Glu497=)
c.1098G>A (p.Glu366=)
4g.186210557G>CCA358951011CYP4V2,KLKB1c.1494G>C (p.Glu498Asp)
n.729G>C
n.6192G>C
c.201+1285G>C
n.584G>C
c.1491G>C (p.Glu497Asp)
c.1098G>C (p.Glu366Asp)
4g.186210557G>TCA358951013CYP4V2,KLKB1c.1494G>T (p.Glu498Asp)
n.729G>T
n.6192G>T
c.201+1285G>T
n.584G>T
c.1491G>T (p.Glu497Asp)
c.1098G>T (p.Glu366Asp)
4g.186210558C>ACA358951016CYP4V2,KLKB1c.1495C>A (p.Leu499Ile)
n.730C>A
n.6193C>A
c.201+1286C>A
n.585C>A
c.1492C>A (p.Leu498Ile)
c.1099C>A (p.Leu367Ile)
4g.186210558C=CA1519892087CYP4V2,KLKB1c.1495C= (p.Leu499=)
n.730C=
n.6193C=
c.201+1286C=
n.585C=
c.1492C= (p.Leu498=)
c.1099C= (p.Leu367=)
4g.186210558C>GCA358951019CYP4V2,KLKB1c.1495C>G (p.Leu499Val)
n.730C>G
n.6193C>G
c.201+1286C>G
n.585C>G
c.1492C>G (p.Leu498Val)
c.1099C>G (p.Leu367Val)
 gnomAD v4
4g.186210558C>TCA3162881CYP4V2,KLKB1c.1495C>T (p.Leu499Phe)
n.730C>T
n.6193C>T
c.201+1286C>T
n.585C>T
c.1492C>T (p.Leu498Phe)
c.1099C>T (p.Leu367Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186210559T>ACA358951023CYP4V2,KLKB1c.1496T>A (p.Leu499His)
n.731T>A
n.6194T>A
c.201+1287T>A
n.586T>A
c.1493T>A (p.Leu498His)
c.1100T>A (p.Leu367His)
4g.186210559T>CCA358951025CYP4V2,KLKB1c.1496T>C (p.Leu499Pro)
n.731T>C
n.6194T>C
c.201+1287T>C
n.586T>C
c.1493T>C (p.Leu498Pro)
c.1100T>C (p.Leu367Pro)
 dbSNP gnomAD v4
4g.186210559T>GCA358951027CYP4V2,KLKB1c.1496T>G (p.Leu499Arg)
n.731T>G
n.6194T>G
c.201+1287T>G
n.586T>G
c.1493T>G (p.Leu498Arg)
c.1100T>G (p.Leu367Arg)
 gnomAD v4
4g.186210559T=CA1519892088CYP4V2,KLKB1c.1496T= (p.Leu499=)
n.731T=
n.6194T=
c.201+1287T=
n.586T=
c.1493T= (p.Leu498=)
c.1100T= (p.Leu367=)
4g.186210560T>ACA442641216CYP4V2,KLKB1c.1497T>A (p.Leu499=)
n.732T>A
n.6195T>A
c.201+1288T>A
n.587T>A
c.1494T>A (p.Leu498=)
c.1101T>A (p.Leu367=)
4g.186210560T>CCA442641217CYP4V2,KLKB1c.1497T>C (p.Leu499=)
n.732T>C
n.6195T>C
c.201+1288T>C
n.587T>C
c.1494T>C (p.Leu498=)
c.1101T>C (p.Leu367=)
4g.186210560T>GCA442641218CYP4V2,KLKB1c.1497T>G (p.Leu499=)
n.732T>G
n.6195T>G
c.201+1288T>G
n.587T>G
c.1494T>G (p.Leu498=)
c.1101T>G (p.Leu367=)
4g.186210561G>ACA358951030CYP4V2,KLKB1c.1498G>A (p.Gly500Ser)
n.733G>A
n.6196G>A
c.201+1289G>A
n.588G>A
c.1495G>A (p.Gly499Ser)
c.1102G>A (p.Gly368Ser)
4g.186210561G>CCA358951032CYP4V2,KLKB1c.1498G>C (p.Gly500Arg)
n.733G>C
n.6196G>C
c.201+1289G>C
n.588G>C
c.1495G>C (p.Gly499Arg)
c.1102G>C (p.Gly368Arg)
4g.186210561G>TCA358951034CYP4V2,KLKB1c.1498G>T (p.Gly500Cys)
n.733G>T
n.6196G>T
c.201+1289G>T
n.588G>T
c.1495G>T (p.Gly499Cys)
c.1102G>T (p.Gly368Cys)
4g.186210562G>ACA358951041CYP4V2,KLKB1c.1499G>A (p.Gly500Asp)
n.734G>A
n.6197G>A
c.201+1290G>A
n.589G>A
c.1496G>A (p.Gly499Asp)
c.1103G>A (p.Gly368Asp)
4g.186210562G>CCA358951039CYP4V2,KLKB1c.1499G>C (p.Gly500Ala)
n.734G>C
n.6197G>C
c.201+1290G>C
n.589G>C
c.1496G>C (p.Gly499Ala)
c.1103G>C (p.Gly368Ala)
4g.186210562G>TCA358951036CYP4V2,KLKB1c.1499G>T (p.Gly500Val)
n.734G>T
n.6197G>T
c.201+1290G>T
n.589G>T
c.1496G>T (p.Gly499Val)
c.1103G>T (p.Gly368Val)
4g.186210563T>ACA442641221CYP4V2,KLKB1c.1500T>A (p.Gly500=)
n.735T>A
n.6198T>A
c.201+1291T>A
n.590T>A
c.1497T>A (p.Gly499=)
c.1104T>A (p.Gly368=)
4g.186210563T>CCA442641219CYP4V2,KLKB1c.1500T>C (p.Gly500=)
n.735T>C
n.6198T>C
c.201+1291T>C
n.590T>C
c.1497T>C (p.Gly499=)
c.1104T>C (p.Gly368=)
 dbSNP gnomAD v2 gnomAD v4
4g.186210563T>GCA442641220CYP4V2,KLKB1c.1500T>G (p.Gly500=)
n.735T>G
n.6198T>G
c.201+1291T>G
n.590T>G
c.1497T>G (p.Gly499=)
c.1104T>G (p.Gly368=)
4g.186210563T=CA1519892089CYP4V2,KLKB1c.1500T= (p.Gly500=)
n.735T=
n.6198T=
c.201+1291T=
n.590T=
c.1497T= (p.Gly499=)
c.1104T= (p.Gly368=)
4g.186210564C>ACA358951044CYP4V2,KLKB1c.1501C>A (p.Leu501Ile)
n.736C>A
n.6199C>A
c.201+1292C>A
n.591C>A
c.1498C>A (p.Leu500Ile)
c.1105C>A (p.Leu369Ile)
4g.186210564C=CA1519892090CYP4V2,KLKB1c.1501C= (p.Leu501=)
n.736C=
n.6199C=
c.201+1292C=
n.591C=
c.1498C= (p.Leu500=)
c.1105C= (p.Leu369=)
4g.186210564C>GCA358951045CYP4V2,KLKB1c.1501C>G (p.Leu501Val)
n.736C>G
n.6199C>G
c.201+1292C>G
n.591C>G
c.1498C>G (p.Leu500Val)
c.1105C>G (p.Leu369Val)
 ClinVar dbSNP gnomAD v4
4g.186210564C>TCA442641222CYP4V2,KLKB1c.1501C>T (p.Leu501=)
n.736C>T
n.6199C>T
c.201+1292C>T
n.591C>T
c.1498C>T (p.Leu500=)
c.1105C>T (p.Leu369=)
 dbSNP
4g.186210565T>ACA358951048CYP4V2,KLKB1c.1502T>A (p.Leu501Gln)
n.737T>A
n.6200T>A
c.201+1293T>A
n.592T>A
c.1499T>A (p.Leu500Gln)
c.1106T>A (p.Leu369Gln)
4g.186210565T>CCA358951051CYP4V2,KLKB1c.1502T>C (p.Leu501Pro)
n.737T>C
n.6200T>C
c.201+1293T>C
n.592T>C
c.1499T>C (p.Leu500Pro)
c.1106T>C (p.Leu369Pro)
 gnomAD v4
4g.186210565T>GCA358951053CYP4V2,KLKB1c.1502T>G (p.Leu501Arg)
n.737T>G
n.6200T>G
c.201+1293T>G
n.592T>G
c.1499T>G (p.Leu500Arg)
c.1106T>G (p.Leu369Arg)
4g.186210566A=CA1519892091CYP4V2,KLKB1c.1503A= (p.Leu501=)
n.738A=
n.6201A=
c.201+1294A=
n.593A=
c.1500A= (p.Leu500=)
c.1107A= (p.Leu369=)
4g.186210566A>CCA442641223CYP4V2,KLKB1c.1503A>C (p.Leu501=)
n.738A>C
n.6201A>C
c.201+1294A>C
n.593A>C
c.1500A>C (p.Leu500=)
c.1107A>C (p.Leu369=)
4g.186210566A>GCA3162882CYP4V2,KLKB1c.1503A>G (p.Leu501=)
n.738A>G
n.6201A>G
c.201+1294A>G
n.593A>G
c.1500A>G (p.Leu500=)
c.1107A>G (p.Leu369=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210566A>TCA442641225CYP4V2,KLKB1c.1503A>T (p.Leu501=)
n.738A>T
n.6201A>T
c.201+1294A>T
n.593A>T
c.1500A>T (p.Leu500=)
c.1107A>T (p.Leu369=)
 COSMIC
4g.186210567G>ACA358951057CYP4V2,KLKB1c.1504G>A (p.Glu502Lys)
n.739G>A
n.6202G>A
c.201+1295G>A
n.594G>A
c.1501G>A (p.Glu501Lys)
c.1108G>A (p.Glu370Lys)
4g.186210567G>CCA358951064CYP4V2,KLKB1c.1504G>C (p.Glu502Gln)
n.739G>C
n.6202G>C
c.201+1295G>C
n.594G>C
c.1501G>C (p.Glu501Gln)
c.1108G>C (p.Glu370Gln)
4g.186210567G>TCA358951066CYP4V2,KLKB1c.1504G>T (p.Glu502Ter)
n.739G>T
n.6202G>T
c.201+1295G>T
n.594G>T
c.1501G>T (p.Glu501Ter)
c.1108G>T (p.Glu370Ter)
4g.186210568A=CA1519892092CYP4V2,KLKB1c.1505A= (p.Glu502=)
n.740A=
n.6203A=
c.201+1296A=
n.595A=
c.1502A= (p.Glu501=)
c.1109A= (p.Glu370=)
4g.186210568A>CCA358951067CYP4V2,KLKB1c.1505A>C (p.Glu502Ala)
n.740A>C
n.6203A>C
c.201+1296A>C
n.595A>C
c.1502A>C (p.Glu501Ala)
c.1109A>C (p.Glu370Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186210568A>GCA358951069CYP4V2,KLKB1c.1505A>G (p.Glu502Gly)
n.740A>G
n.6203A>G
c.201+1296A>G
n.595A>G
c.1502A>G (p.Glu501Gly)
c.1109A>G (p.Glu370Gly)
4g.186210568A>TCA358951071CYP4V2,KLKB1c.1505A>T (p.Glu502Val)
n.740A>T
n.6203A>T
c.201+1296A>T
n.595A>T
c.1502A>T (p.Glu501Val)
c.1109A>T (p.Glu370Val)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched