Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
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)

Number of alleles fetched