Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186210549A=CA1519892081CYP4V2,KLKB1c.1486A= (p.Arg496=)
n.721A=
n.6184A=
c.201+1277A=
n.576A=
c.1483A= (p.Arg495=)
c.1090A= (p.Arg364=)
4g.186210549A>CCA442641211CYP4V2,KLKB1c.1486A>C (p.Arg496=)
n.721A>C
n.6184A>C
c.201+1277A>C
n.576A>C
c.1483A>C (p.Arg495=)
c.1090A>C (p.Arg364=)
4g.186210549A>GCA358950979CYP4V2,KLKB1c.1486A>G (p.Arg496Gly)
n.721A>G
n.6184A>G
c.201+1277A>G
n.576A>G
c.1483A>G (p.Arg495Gly)
c.1090A>G (p.Arg364Gly)
 dbSNP gnomAD v2 gnomAD v4
4g.186210549A>TCA358950980CYP4V2,KLKB1c.1486A>T (p.Arg496Ter)
n.721A>T
n.6184A>T
c.201+1277A>T
n.576A>T
c.1483A>T (p.Arg495Ter)
c.1090A>T (p.Arg364Ter)
4g.186210550G>ACA3162876CYP4V2,KLKB1c.1487G>A (p.Arg496Lys)
n.722G>A
n.6185G>A
c.201+1278G>A
n.577G>A
c.1484G>A (p.Arg495Lys)
c.1091G>A (p.Arg364Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210550G>CCA358950982CYP4V2,KLKB1c.1487G>C (p.Arg496Thr)
n.722G>C
n.6185G>C
c.201+1278G>C
n.577G>C
c.1484G>C (p.Arg495Thr)
c.1091G>C (p.Arg364Thr)
4g.186210550G=CA1519892082CYP4V2,KLKB1c.1487G= (p.Arg496=)
n.722G=
n.6185G=
c.201+1278G=
n.577G=
c.1484G= (p.Arg495=)
c.1091G= (p.Arg364=)
4g.186210550G>TCA358950983CYP4V2,KLKB1c.1487G>T (p.Arg496Ile)
n.722G>T
n.6185G>T
c.201+1278G>T
n.577G>T
c.1484G>T (p.Arg495Ile)
c.1091G>T (p.Arg364Ile)
4g.186210551A=CA1519892083CYP4V2,KLKB1c.1488A= (p.Arg496=)
n.723A=
n.6186A=
c.201+1279A=
n.578A=
c.1485A= (p.Arg495=)
c.1092A= (p.Arg364=)
4g.186210551A>CCA358950987CYP4V2,KLKB1c.1488A>C (p.Arg496Ser)
n.723A>C
n.6186A>C
c.201+1279A>C
n.578A>C
c.1485A>C (p.Arg495Ser)
c.1092A>C (p.Arg364Ser)
4g.186210551A>GCA3162877CYP4V2,KLKB1c.1488A>G (p.Arg496=)
n.723A>G
n.6186A>G
c.201+1279A>G
n.578A>G
c.1485A>G (p.Arg495=)
c.1092A>G (p.Arg364=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186210551A>TCA358950991CYP4V2,KLKB1c.1488A>T (p.Arg496Ser)
n.723A>T
n.6186A>T
c.201+1279A>T
n.578A>T
c.1485A>T (p.Arg495Ser)
c.1092A>T (p.Arg364Ser)
4g.186210552G>ACA358950993CYP4V2,KLKB1c.1489G>A (p.Glu497Lys)
n.724G>A
n.6187G>A
c.201+1280G>A
n.579G>A
c.1486G>A (p.Glu496Lys)
c.1093G>A (p.Glu365Lys)
4g.186210552G>CCA358950995CYP4V2,KLKB1c.1489G>C (p.Glu497Gln)
n.724G>C
n.6187G>C
c.201+1280G>C
n.579G>C
c.1486G>C (p.Glu496Gln)
c.1093G>C (p.Glu365Gln)
4g.186210552G>TCA358950997CYP4V2,KLKB1c.1489G>T (p.Glu497Ter)
n.724G>T
n.6187G>T
c.201+1280G>T
n.579G>T
c.1486G>T (p.Glu496Ter)
c.1093G>T (p.Glu365Ter)
4g.186210553A>CCA358950999CYP4V2,KLKB1c.1490A>C (p.Glu497Ala)
n.725A>C
n.6188A>C
c.201+1281A>C
n.580A>C
c.1487A>C (p.Glu496Ala)
c.1094A>C (p.Glu365Ala)
4g.186210553A>GCA358951000CYP4V2,KLKB1c.1490A>G (p.Glu497Gly)
n.725A>G
n.6188A>G
c.201+1281A>G
n.580A>G
c.1487A>G (p.Glu496Gly)
c.1094A>G (p.Glu365Gly)
4g.186210553A>TCA358951001CYP4V2,KLKB1c.1490A>T (p.Glu497Val)
n.725A>T
n.6188A>T
c.201+1281A>T
n.580A>T
c.1487A>T (p.Glu496Val)
c.1094A>T (p.Glu365Val)
4g.186210554A=CA1519892084CYP4V2,KLKB1c.1491A= (p.Glu497=)
n.726A=
n.6189A=
c.201+1282A=
n.581A=
c.1488A= (p.Glu496=)
c.1095A= (p.Glu365=)
4g.186210554A>CCA358951002CYP4V2,KLKB1c.1491A>C (p.Glu497Asp)
n.726A>C
n.6189A>C
c.201+1282A>C
n.581A>C
c.1488A>C (p.Glu496Asp)
c.1095A>C (p.Glu365Asp)
4g.186210554A>GCA442641213CYP4V2,KLKB1c.1491A>G (p.Glu497=)
n.726A>G
n.6189A>G
c.201+1282A>G
n.581A>G
c.1488A>G (p.Glu496=)
c.1095A>G (p.Glu365=)
 dbSNP gnomAD v3 gnomAD v4
4g.186210554A>TCA358951003CYP4V2,KLKB1c.1491A>T (p.Glu497Asp)
n.726A>T
n.6189A>T
c.201+1282A>T
n.581A>T
c.1488A>T (p.Glu496Asp)
c.1095A>T (p.Glu365Asp)
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)

Number of alleles fetched