Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186209086_186209102delinsTTGACAGCAGGTTACAGCA1519891401CYP4V2,KLKB1c.1226-7_1235delinsTTGACAGCAGGTTACAG
n.461-7_470delinsTTGACAGCAGGTTACAG
n.5924-7_5933delinsTTGACAGCAGGTTACAG
c.22-7_31delinsTTGACAGCAGGTTACAG
n.316-7_325delinsTTGACAGCAGGTTACAG
c.1226-10_1232delinsTTGACAGCAGGTTACAG
c.830-7_839delinsTTGACAGCAGGTTACAG
4g.186209087_186209102delCA343716CYP4V2,KLKB1c.1226-6_1235del
n.461-6_470del
n.5924-6_5933del
c.22-6_31del
n.316-6_325del
c.1226-9_1232del
c.830-6_839del
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186209100_186209101delCA3162806CYP4V2,KLKB1c.1233_1234del (p.Tyr411Ter)
n.468_469del
n.5931_5932del
c.29_30del
n.323_324del
c.1230_1231del (p.Tyr410Ter)
c.837_838del (p.Tyr279Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209101A>CCA442882380CYP4V2,KLKB1c.1234A>C (p.Arg412=)
n.469A>C
n.5932A>C
c.30A>C
n.324A>C
c.1231A>C (p.Arg411=)
c.838A>C (p.Arg280=)
4g.186209101A>GCA358950359CYP4V2,KLKB1c.1234A>G (p.Arg412Gly)
n.469A>G
n.5932A>G
c.30A>G
n.324A>G
c.1231A>G (p.Arg411Gly)
c.838A>G (p.Arg280Gly)
 gnomAD v4
4g.186209101A>TCA358950358CYP4V2,KLKB1c.1234A>T (p.Arg412Ter)
n.469A>T
n.5932A>T
c.30A>T
n.324A>T
c.1231A>T (p.Arg411Ter)
c.838A>T (p.Arg280Ter)
 gnomAD v4
4g.186209102G>ACA358950360CYP4V2,KLKB1c.1235G>A (p.Arg412Lys)
n.470G>A
n.5933G>A
c.31G>A
n.325G>A
c.1232G>A (p.Arg411Lys)
c.839G>A (p.Arg280Lys)
 ClinVar gnomAD v4
4g.186209102G>CCA3162807CYP4V2,KLKB1c.1235G>C (p.Arg412Thr)
n.470G>C
n.5933G>C
c.31G>C
n.325G>C
c.1232G>C (p.Arg411Thr)
c.839G>C (p.Arg280Thr)
 dbSNP ExAC gnomAD v4
4g.186209102G=CA1519891409CYP4V2,KLKB1c.1235G= (p.Arg412=)
n.470G=
n.5933G=
c.31G=
n.325G=
c.1232G= (p.Arg411=)
c.839G= (p.Arg280=)
4g.186209102G>TCA358950361CYP4V2,KLKB1c.1235G>T (p.Arg412Ile)
n.470G>T
n.5933G>T
c.31G>T
n.325G>T
c.1232G>T (p.Arg411Ile)
c.839G>T (p.Arg280Ile)
4g.186209103A>CCA358950362CYP4V2,KLKB1c.1236A>C (p.Arg412Ser)
n.471A>C
n.5934A>C
c.32A>C
n.326A>C
c.1233A>C (p.Arg411Ser)
c.840A>C (p.Arg280Ser)
4g.186209103A>GCA442882387CYP4V2,KLKB1c.1236A>G (p.Arg412=)
n.471A>G
n.5934A>G
c.32A>G
n.326A>G
c.1233A>G (p.Arg411=)
c.840A>G (p.Arg280=)
 gnomAD v4
4g.186209103A>TCA358950363CYP4V2,KLKB1c.1236A>T (p.Arg412Ser)
n.471A>T
n.5934A>T
c.32A>T
n.326A>T
c.1233A>T (p.Arg411Ser)
c.840A>T (p.Arg280Ser)
4g.186209104G>ACA358950364CYP4V2,KLKB1c.1237G>A (p.Val413Ile)
n.472G>A
n.5935G>A
c.33G>A
n.327G>A
c.1234G>A (p.Val412Ile)
c.841G>A (p.Val281Ile)
4g.186209104G>CCA358950365CYP4V2,KLKB1c.1237G>C (p.Val413Leu)
n.472G>C
n.5935G>C
c.33G>C
n.327G>C
c.1234G>C (p.Val412Leu)
c.841G>C (p.Val281Leu)
4g.186209104G>TCA358950366CYP4V2,KLKB1c.1237G>T (p.Val413Phe)
n.472G>T
n.5935G>T
c.33G>T
n.327G>T
c.1234G>T (p.Val412Phe)
c.841G>T (p.Val281Phe)
4g.186209105T>ACA358950367CYP4V2,KLKB1c.1238T>A (p.Val413Asp)
n.473T>A
n.5936T>A
c.34T>A
n.328T>A
c.1235T>A (p.Val412Asp)
c.842T>A (p.Val281Asp)
4g.186209105T>CCA358950368CYP4V2,KLKB1c.1238T>C (p.Val413Ala)
n.473T>C
n.5936T>C
c.34T>C
n.328T>C
c.1235T>C (p.Val412Ala)
c.842T>C (p.Val281Ala)
4g.186209105T>GCA358950369CYP4V2,KLKB1c.1238T>G (p.Val413Gly)
n.473T>G
n.5936T>G
c.34T>G
n.328T>G
c.1235T>G (p.Val412Gly)
c.842T>G (p.Val281Gly)
4g.186209106T>ACA442882395CYP4V2,KLKB1c.1239T>A (p.Val413=)
n.474T>A
n.5937T>A
c.35T>A
n.329T>A
c.1236T>A (p.Val412=)
c.843T>A (p.Val281=)
4g.186209106T>CCA442882399CYP4V2,KLKB1c.1239T>C (p.Val413=)
n.474T>C
n.5937T>C
c.35T>C
n.329T>C
c.1236T>C (p.Val412=)
c.843T>C (p.Val281=)
 gnomAD v4
4g.186209106T>GCA442882397CYP4V2,KLKB1c.1239T>G (p.Val413=)
n.474T>G
n.5937T>G
c.35T>G
n.329T>G
c.1236T>G (p.Val412=)
c.843T>G (p.Val281=)
4g.186209107C>ACA358950370CYP4V2,KLKB1c.1240C>A (p.Leu414Ile)
n.475C>A
n.5938C>A
c.36C>A
n.330C>A
c.1237C>A (p.Leu413Ile)
c.844C>A (p.Leu282Ile)
 gnomAD v4
4g.186209107C=CA1519891410CYP4V2,KLKB1c.1240C= (p.Leu414=)
n.475C=
n.5938C=
c.36C=
n.330C=
c.1237C= (p.Leu413=)
c.844C= (p.Leu282=)
4g.186209107C>GCA358950371CYP4V2,KLKB1c.1240C>G (p.Leu414Val)
n.475C>G
n.5938C>G
c.36C>G
n.330C>G
c.1237C>G (p.Leu413Val)
c.844C>G (p.Leu282Val)
4g.186209107C>TCA442882402CYP4V2,KLKB1c.1240C>T (p.Leu414=)
n.475C>T
n.5938C>T
c.36C>T
n.330C>T
c.1237C>T (p.Leu413=)
c.844C>T (p.Leu282=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186209108T>ACA358950373CYP4V2,KLKB1c.1241T>A (p.Leu414Gln)
n.476T>A
n.5939T>A
c.37T>A
n.331T>A
c.1238T>A (p.Leu413Gln)
c.845T>A (p.Leu282Gln)
4g.186209108T>CCA3162808CYP4V2,KLKB1c.1241T>C (p.Leu414Pro)
n.476T>C
n.5939T>C
c.37T>C
n.331T>C
c.1238T>C (p.Leu413Pro)
c.845T>C (p.Leu282Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209108T>GCA358950372CYP4V2,KLKB1c.1241T>G (p.Leu414Arg)
n.476T>G
n.5939T>G
c.37T>G
n.331T>G
c.1238T>G (p.Leu413Arg)
c.845T>G (p.Leu282Arg)
 dbSNP
4g.186209108T=CA1519891411CYP4V2,KLKB1c.1241T= (p.Leu414=)
n.476T=
n.5939T=
c.37T=
n.331T=
c.1238T= (p.Leu413=)
c.845T= (p.Leu282=)
4g.186209109A>CCA442882407CYP4V2,KLKB1c.1242A>C (p.Leu414=)
n.477A>C
n.5940A>C
c.38A>C
n.332A>C
c.1239A>C (p.Leu413=)
c.846A>C (p.Leu282=)
4g.186209109A>GCA442882408CYP4V2,KLKB1c.1242A>G (p.Leu414=)
n.477A>G
n.5940A>G
c.38A>G
n.332A>G
c.1239A>G (p.Leu413=)
c.846A>G (p.Leu282=)
4g.186209109A>TCA442882410CYP4V2,KLKB1c.1242A>T (p.Leu414=)
n.477A>T
n.5940A>T
c.38A>T
n.332A>T
c.1239A>T (p.Leu413=)
c.846A>T (p.Leu282=)
4g.186209110A>CCA358950374CYP4V2,KLKB1c.1243A>C (p.Lys415Gln)
n.478A>C
n.5941A>C
c.39A>C
n.333A>C
c.1240A>C (p.Lys414Gln)
c.847A>C (p.Lys283Gln)
 gnomAD v4
4g.186209110A>GCA358950375CYP4V2,KLKB1c.1243A>G (p.Lys415Glu)
n.478A>G
n.5941A>G
c.39A>G
n.333A>G
c.1240A>G (p.Lys414Glu)
c.847A>G (p.Lys283Glu)
4g.186209110A>TCA358950376CYP4V2,KLKB1c.1243A>T (p.Lys415Ter)
n.478A>T
n.5941A>T
c.39A>T
n.333A>T
c.1240A>T (p.Lys414Ter)
c.847A>T (p.Lys283Ter)
4g.186209111A>CCA358950377CYP4V2,KLKB1c.1244A>C (p.Lys415Thr)
n.479A>C
n.5942A>C
c.40A>C
n.334A>C
c.1241A>C (p.Lys414Thr)
c.848A>C (p.Lys283Thr)
4g.186209111A>GCA358950378CYP4V2,KLKB1c.1244A>G (p.Lys415Arg)
n.479A>G
n.5942A>G
c.40A>G
n.334A>G
c.1241A>G (p.Lys414Arg)
c.848A>G (p.Lys283Arg)
4g.186209111A>TCA358950379CYP4V2,KLKB1c.1244A>T (p.Lys415Ile)
n.479A>T
n.5942A>T
c.40A>T
n.334A>T
c.1241A>T (p.Lys414Ile)
c.848A>T (p.Lys283Ile)
4g.186209112A>CCA358950380CYP4V2,KLKB1c.1245A>C (p.Lys415Asn)
n.480A>C
n.5943A>C
c.41A>C
n.335A>C
c.1242A>C (p.Lys414Asn)
c.849A>C (p.Lys283Asn)
4g.186209112A>GCA442882418CYP4V2,KLKB1c.1245A>G (p.Lys415=)
n.480A>G
n.5943A>G
c.41A>G
n.335A>G
c.1242A>G (p.Lys414=)
c.849A>G (p.Lys283=)
4g.186209112A>TCA358950381CYP4V2,KLKB1c.1245A>T (p.Lys415Asn)
n.480A>T
n.5943A>T
c.41A>T
n.335A>T
c.1242A>T (p.Lys414Asn)
c.849A>T (p.Lys283Asn)
4g.186209113G>ACA112134958CYP4V2,KLKB1c.1246G>A (p.Gly416Ser)
n.481G>A
n.5944G>A
c.42G>A
n.336G>A
c.1243G>A (p.Gly415Ser)
c.850G>A (p.Gly284Ser)
 dbSNP gnomAD v4
4g.186209113G>CCA358950382CYP4V2,KLKB1c.1246G>C (p.Gly416Arg)
n.481G>C
n.5944G>C
c.42G>C
n.336G>C
c.1243G>C (p.Gly415Arg)
c.850G>C (p.Gly284Arg)
4g.186209113G=CA1519891412CYP4V2,KLKB1c.1246G= (p.Gly416=)
n.481G=
n.5944G=
c.42G=
n.336G=
c.1243G= (p.Gly415=)
c.850G= (p.Gly284=)
4g.186209113G>TCA358950383CYP4V2,KLKB1c.1246G>T (p.Gly416Cys)
n.481G>T
n.5944G>T
c.42G>T
n.336G>T
c.1243G>T (p.Gly415Cys)
c.850G>T (p.Gly284Cys)
4g.186209114G>ACA358950384CYP4V2,KLKB1c.1247G>A (p.Gly416Asp)
n.482G>A
n.5945G>A
c.43G>A
n.337G>A
c.1244G>A (p.Gly415Asp)
c.851G>A (p.Gly284Asp)
 gnomAD v4
4g.186209114G>CCA358950385CYP4V2,KLKB1c.1247G>C (p.Gly416Ala)
n.482G>C
n.5945G>C
c.43G>C
n.337G>C
c.1244G>C (p.Gly415Ala)
c.851G>C (p.Gly284Ala)
4g.186209114G>TCA358950386CYP4V2,KLKB1c.1247G>T (p.Gly416Val)
n.482G>T
n.5945G>T
c.43G>T
n.337G>T
c.1244G>T (p.Gly415Val)
c.851G>T (p.Gly284Val)
 dbSNP
4g.186209115C>ACA442882429CYP4V2,KLKB1c.1248C>A (p.Gly416=)
n.483C>A
n.5946C>A
c.44C>A
n.338C>A
c.1245C>A (p.Gly415=)
c.852C>A (p.Gly284=)

Number of alleles fetched