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.186209095G>ACA358950346CYP4V2,KLKB1c.1228G>A (p.Gly410Ser)
n.463G>A
n.5926G>A
c.24G>A
n.318G>A
c.1226-1G>A (n.1226-1G>A)
c.832G>A (p.Gly278Ser)
4g.186209095G>CCA358950348CYP4V2,KLKB1c.1228G>C (p.Gly410Arg)
n.463G>C
n.5926G>C
c.24G>C
n.318G>C
c.1226-1G>C (n.1226-1G>C)
c.832G>C (p.Gly278Arg)
4g.186209095G>TCA358950347CYP4V2,KLKB1c.1228G>T (p.Gly410Cys)
n.463G>T
n.5926G>T
c.24G>T
n.318G>T
c.1226-1G>T (n.1226-1G>T)
c.832G>T (p.Gly278Cys)
4g.186209096G>ACA112134920CYP4V2,KLKB1c.1229G>A (p.Gly410Asp)
n.464G>A
n.5927G>A
c.25G>A
n.319G>A
c.1226G>A (p.Gly409Asp)
c.833G>A (p.Gly278Asp)
 dbSNP gnomAD v3 gnomAD v4
4g.186209096G>CCA358950349CYP4V2,KLKB1c.1229G>C (p.Gly410Ala)
n.464G>C
n.5927G>C
c.25G>C
n.319G>C
c.1226G>C (p.Gly409Ala)
c.833G>C (p.Gly278Ala)
4g.186209096G=CA1519891405CYP4V2,KLKB1c.1229G= (p.Gly410=)
n.464G=
n.5927G=
c.25G=
n.319G=
c.1226G= (p.Gly409=)
c.833G= (p.Gly278=)
4g.186209096G>TCA3162805CYP4V2,KLKB1c.1229G>T (p.Gly410Val)
n.464G>T
n.5927G>T
c.25G>T
n.319G>T
c.1226G>T (p.Gly409Val)
c.833G>T (p.Gly278Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209096_186209097delinsGTCA1519891406CYP4V2,KLKB1c.1229_1230delinsGT (p.Gly410=)
n.464_465delinsGT
n.5927_5928delinsGT
c.25_26delinsGT
n.319_320delinsGT
c.1226_1227delinsGT (p.Gly409=)
c.833_834delinsGT (p.Gly278=)
4g.186209097T>ACA442882364CYP4V2,KLKB1c.1230T>A (p.Gly410=)
n.465T>A
n.5928T>A
c.26T>A
n.320T>A
c.1227T>A (p.Gly409=)
c.834T>A (p.Gly278=)
4g.186209097T>CCA442882366CYP4V2,KLKB1c.1230T>C (p.Gly410=)
n.465T>C
n.5928T>C
c.26T>C
n.320T>C
c.1227T>C (p.Gly409=)
c.834T>C (p.Gly278=)
4g.186209097T>GCA442882368CYP4V2,KLKB1c.1230T>G (p.Gly410=)
n.465T>G
n.5928T>G
c.26T>G
n.320T>G
c.1227T>G (p.Gly409=)
c.834T>G (p.Gly278=)
4g.186209098delCA557395766CYP4V2,KLKB1c.1231del (p.Tyr411ThrfsTer4)
n.466del
n.5929del
c.27del
n.321del
c.1228del (p.Tyr410ThrfsTer4)
c.835del (p.Tyr279ThrfsTer4)
 dbSNP gnomAD v2 gnomAD v4
4g.186209098T>ACA358950350CYP4V2,KLKB1c.1231T>A (p.Tyr411Asn)
n.466T>A
n.5929T>A
c.27T>A
n.321T>A
c.1228T>A (p.Tyr410Asn)
c.835T>A (p.Tyr279Asn)
4g.186209098T>CCA358950351CYP4V2,KLKB1c.1231T>C (p.Tyr411His)
n.466T>C
n.5929T>C
c.27T>C
n.321T>C
c.1228T>C (p.Tyr410His)
c.835T>C (p.Tyr279His)
4g.186209098T>GCA358950352CYP4V2,KLKB1c.1231T>G (p.Tyr411Asp)
n.466T>G
n.5929T>G
c.27T>G
n.321T>G
c.1228T>G (p.Tyr410Asp)
c.835T>G (p.Tyr279Asp)
4g.186209098_186209100delinsTACCA1519891407CYP4V2,KLKB1c.1231_1233delinsTAC (p.Tyr411=)
n.466_468delinsTAC
n.5929_5931delinsTAC
c.27_29delinsTAC
n.321_323delinsTAC
c.1228_1230delinsTAC (p.Tyr410=)
c.835_837delinsTAC (p.Tyr279=)
4g.186209099A>CCA358950353CYP4V2,KLKB1c.1232A>C (p.Tyr411Ser)
n.467A>C
n.5930A>C
c.28A>C
n.322A>C
c.1229A>C (p.Tyr410Ser)
c.836A>C (p.Tyr279Ser)
4g.186209099A>GCA358950354CYP4V2,KLKB1c.1232A>G (p.Tyr411Cys)
n.467A>G
n.5930A>G
c.28A>G
n.322A>G
c.1229A>G (p.Tyr410Cys)
c.836A>G (p.Tyr279Cys)
 gnomAD v4
4g.186209099A>TCA358950355CYP4V2,KLKB1c.1232A>T (p.Tyr411Phe)
n.467A>T
n.5930A>T
c.28A>T
n.322A>T
c.1229A>T (p.Tyr410Phe)
c.836A>T (p.Tyr279Phe)
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.186209100C>ACA358950356CYP4V2,KLKB1c.1233C>A (p.Tyr411Ter)
n.468C>A
n.5931C>A
c.29C>A
n.323C>A
c.1230C>A (p.Tyr410Ter)
c.837C>A (p.Tyr279Ter)
4g.186209100C=CA1519891408CYP4V2,KLKB1c.1233C= (p.Tyr411=)
n.468C=
n.5931C=
c.29C=
n.323C=
c.1230C= (p.Tyr410=)
c.837C= (p.Tyr279=)
4g.186209100C>GCA358950357CYP4V2,KLKB1c.1233C>G (p.Tyr411Ter)
n.468C>G
n.5931C>G
c.29C>G
n.323C>G
c.1230C>G (p.Tyr410Ter)
c.837C>G (p.Tyr279Ter)
 gnomAD v4
4g.186209100C>TCA442882378CYP4V2,KLKB1c.1233C>T (p.Tyr411=)
n.468C>T
n.5931C>T
c.29C>T
n.323C>T
c.1230C>T (p.Tyr410=)
c.837C>T (p.Tyr279=)
 dbSNP 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)

Number of alleles fetched