Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
4g.186209115C=CA1519891413CYP4V2,KLKB1c.1248C= (p.Gly416=)
n.483C=
n.5946C=
c.44C=
n.338C=
c.1245C= (p.Gly415=)
c.852C= (p.Gly284=)
4g.186209115C>GCA442882427CYP4V2,KLKB1c.1248C>G (p.Gly416=)
n.483C>G
n.5946C>G
c.44C>G
n.338C>G
c.1245C>G (p.Gly415=)
c.852C>G (p.Gly284=)
4g.186209115C>TCA442882426CYP4V2,KLKB1c.1248C>T (p.Gly416=)
n.483C>T
n.5946C>T
c.44C>T
n.338C>T
c.1245C>T (p.Gly415=)
c.852C>T (p.Gly284=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186209116A=CA1519891414CYP4V2,KLKB1c.1249A= (p.Thr417=)
n.484A=
n.5947A=
c.45A=
n.339A=
c.1246A= (p.Thr416=)
c.853A= (p.Thr285=)
4g.186209116A>CCA358950387CYP4V2,KLKB1c.1249A>C (p.Thr417Pro)
n.484A>C
n.5947A>C
c.45A>C
n.339A>C
c.1246A>C (p.Thr416Pro)
c.853A>C (p.Thr285Pro)
4g.186209116A>GCA3162809CYP4V2,KLKB1c.1249A>G (p.Thr417Ala)
n.484A>G
n.5947A>G
c.45A>G
n.339A>G
c.1246A>G (p.Thr416Ala)
c.853A>G (p.Thr285Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209116A>TCA3162810CYP4V2,KLKB1c.1249A>T (p.Thr417Ser)
n.484A>T
n.5947A>T
c.45A>T
n.339A>T
c.1246A>T (p.Thr416Ser)
c.853A>T (p.Thr285Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209116dupCA2672897667CYP4V2,KLKB1c.1249dup (p.Thr417AsnfsTer2)
n.484dup
n.5947dup
c.45dup
n.339dup
c.1246dup (p.Thr416AsnfsTer2)
c.853dup (p.Thr285AsnfsTer2)
 gnomAD v4
4g.186209116_186209117delinsACCA1519891415CYP4V2,KLKB1c.1249_1250delinsAC (p.Thr417=)
n.484_485delinsAC
n.5947_5948delinsAC
c.45_46delinsAC
n.339_340delinsAC
c.1246_1247delinsAC (p.Thr416=)
c.853_854delinsAC (p.Thr285=)
4g.186209116_186209117delinsTTCA1139655859CYP4V2,KLKB1c.1249_1250delinsTT (p.Thr417Phe)
n.484_485delinsTT
n.5947_5948delinsTT
c.45_46delinsTT
n.339_340delinsTT
c.1246_1247delinsTT (p.Thr416Phe)
c.853_854delinsTT (p.Thr285Phe)
 ClinVar dbSNP
4g.186209117C>ACA358950388CYP4V2,KLKB1c.1250C>A (p.Thr417Asn)
n.485C>A
n.5948C>A
c.46C>A
n.340C>A
c.1247C>A (p.Thr416Asn)
c.854C>A (p.Thr285Asn)
4g.186209117C=CA1519891416CYP4V2,KLKB1c.1250C= (p.Thr417=)
n.485C=
n.5948C=
c.46C=
n.340C=
c.1247C= (p.Thr416=)
c.854C= (p.Thr285=)
4g.186209117C>GCA358950389CYP4V2,KLKB1c.1250C>G (p.Thr417Ser)
n.485C>G
n.5948C>G
c.46C>G
n.340C>G
c.1247C>G (p.Thr416Ser)
c.854C>G (p.Thr285Ser)
4g.186209117C>TCA3162811CYP4V2,KLKB1c.1250C>T (p.Thr417Ile)
n.485C>T
n.5948C>T
c.46C>T
n.340C>T
c.1247C>T (p.Thr416Ile)
c.854C>T (p.Thr285Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209118T>ACA442882436CYP4V2,KLKB1c.1251T>A (p.Thr417=)
n.486T>A
n.5949T>A
c.47T>A
n.341T>A
c.1248T>A (p.Thr416=)
c.855T>A (p.Thr285=)
4g.186209118T>CCA442882438CYP4V2,KLKB1c.1251T>C (p.Thr417=)
n.486T>C
n.5949T>C
c.47T>C
n.341T>C
c.1248T>C (p.Thr416=)
c.855T>C (p.Thr285=)
 gnomAD v4
4g.186209118T>GCA442882440CYP4V2,KLKB1c.1251T>G (p.Thr417=)
n.486T>G
n.5949T>G
c.47T>G
n.341T>G
c.1248T>G (p.Thr416=)
c.855T>G (p.Thr285=)
4g.186209119G>ACA358950390CYP4V2,KLKB1c.1252G>A (p.Glu418Lys)
n.487G>A
n.5950G>A
c.48G>A
n.342G>A
c.1249G>A (p.Glu417Lys)
c.856G>A (p.Glu286Lys)
4g.186209119G>CCA358950391CYP4V2,KLKB1c.1252G>C (p.Glu418Gln)
n.487G>C
n.5950G>C
c.48G>C
n.342G>C
c.1249G>C (p.Glu417Gln)
c.856G>C (p.Glu286Gln)
4g.186209119G>TCA358950392CYP4V2,KLKB1c.1252G>T (p.Glu418Ter)
n.487G>T
n.5950G>T
c.48G>T
n.342G>T
c.1249G>T (p.Glu417Ter)
c.856G>T (p.Glu286Ter)
4g.186209120A=CA1519891417CYP4V2,KLKB1c.1253A= (p.Glu418=)
n.488A=
n.5951A=
c.49A=
n.343A=
c.1250A= (p.Glu417=)
c.857A= (p.Glu286=)
4g.186209120A>CCA358950393CYP4V2,KLKB1c.1253A>C (p.Glu418Ala)
n.488A>C
n.5951A>C
c.49A>C
n.343A>C
c.1250A>C (p.Glu417Ala)
c.857A>C (p.Glu286Ala)
 dbSNP
4g.186209120A>GCA358950394CYP4V2,KLKB1c.1253A>G (p.Glu418Gly)
n.488A>G
n.5951A>G
c.49A>G
n.343A>G
c.1250A>G (p.Glu417Gly)
c.857A>G (p.Glu286Gly)
4g.186209120A>TCA358950395CYP4V2,KLKB1c.1253A>T (p.Glu418Val)
n.488A>T
n.5951A>T
c.49A>T
n.343A>T
c.1250A>T (p.Glu417Val)
c.857A>T (p.Glu286Val)
4g.186209121A>CCA358950396CYP4V2,KLKB1c.1254A>C (p.Glu418Asp)
n.489A>C
n.5952A>C
c.50A>C
n.344A>C
c.1251A>C (p.Glu417Asp)
c.858A>C (p.Glu286Asp)
4g.186209121A>GCA442882447CYP4V2,KLKB1c.1254A>G (p.Glu418=)
n.489A>G
n.5952A>G
c.50A>G
n.344A>G
c.1251A>G (p.Glu417=)
c.858A>G (p.Glu286=)
4g.186209121A>TCA358950397CYP4V2,KLKB1c.1254A>T (p.Glu418Asp)
n.489A>T
n.5952A>T
c.50A>T
n.344A>T
c.1251A>T (p.Glu417Asp)
c.858A>T (p.Glu286Asp)
4g.186209122G>ACA358950398CYP4V2,KLKB1c.1255G>A (p.Ala419Thr)
n.490G>A
n.5953G>A
c.51G>A
n.345G>A
c.1252G>A (p.Ala418Thr)
c.859G>A (p.Ala287Thr)
 dbSNP
4g.186209122G>CCA358950399CYP4V2,KLKB1c.1255G>C (p.Ala419Pro)
n.490G>C
n.5953G>C
c.51G>C
n.345G>C
c.1252G>C (p.Ala418Pro)
c.859G>C (p.Ala287Pro)
4g.186209122G=CA1519891418CYP4V2,KLKB1c.1255G= (p.Ala419=)
n.490G=
n.5953G=
c.51G=
n.345G=
c.1252G= (p.Ala418=)
c.859G= (p.Ala287=)
4g.186209122G>TCA358950400CYP4V2,KLKB1c.1255G>T (p.Ala419Ser)
n.490G>T
n.5953G>T
c.51G>T
n.345G>T
c.1252G>T (p.Ala418Ser)
c.859G>T (p.Ala287Ser)
4g.186209123C>ACA358950402CYP4V2,KLKB1c.1256C>A (p.Ala419Asp)
n.491C>A
n.5954C>A
c.52C>A
n.346C>A
c.1253C>A (p.Ala418Asp)
c.860C>A (p.Ala287Asp)
4g.186209123C>GCA358950403CYP4V2,KLKB1c.1256C>G (p.Ala419Gly)
n.491C>G
n.5954C>G
c.52C>G
n.346C>G
c.1253C>G (p.Ala418Gly)
c.860C>G (p.Ala287Gly)
4g.186209123C>TCA358950401CYP4V2,KLKB1c.1256C>T (p.Ala419Val)
n.491C>T
n.5954C>T
c.52C>T
n.346C>T
c.1253C>T (p.Ala418Val)
c.860C>T (p.Ala287Val)
 gnomAD v4
4g.186209124C>ACA442882454CYP4V2,KLKB1c.1257C>A (p.Ala419=)
n.492C>A
n.5955C>A
c.53C>A
n.347C>A
c.1254C>A (p.Ala418=)
c.861C>A (p.Ala287=)
4g.186209124C=CA1519891419CYP4V2,KLKB1c.1257C= (p.Ala419=)
n.492C=
n.5955C=
c.53C=
n.347C=
c.1254C= (p.Ala418=)
c.861C= (p.Ala287=)
4g.186209124C>GCA442882456CYP4V2,KLKB1c.1257C>G (p.Ala419=)
n.492C>G
n.5955C>G
c.53C>G
n.347C>G
c.1254C>G (p.Ala418=)
c.861C>G (p.Ala287=)
4g.186209124C>TCA3162812CYP4V2,KLKB1c.1257C>T (p.Ala419=)
n.492C>T
n.5955C>T
c.53C>T
n.347C>T
c.1254C>T (p.Ala418=)
c.861C>T (p.Ala287=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.186209125G>ACA112135002CYP4V2,KLKB1c.1258G>A (p.Val420Ile)
n.493G>A
n.5956G>A
c.54G>A
n.348G>A
c.1255G>A (p.Val419Ile)
c.862G>A (p.Val288Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186209125G>CCA358950404CYP4V2,KLKB1c.1258G>C (p.Val420Leu)
n.493G>C
n.5956G>C
c.54G>C
n.348G>C
c.1255G>C (p.Val419Leu)
c.862G>C (p.Val288Leu)
4g.186209125G=CA1519891420CYP4V2,KLKB1c.1258G= (p.Val420=)
n.493G=
n.5956G=
c.54G=
n.348G=
c.1255G= (p.Val419=)
c.862G= (p.Val288=)
4g.186209125G>TCA358950405CYP4V2,KLKB1c.1258G>T (p.Val420Phe)
n.493G>T
n.5956G>T
c.54G>T
n.348G>T
c.1255G>T (p.Val419Phe)
c.862G>T (p.Val288Phe)
 dbSNP gnomAD v2 gnomAD v4
4g.186209126T>ACA358950406CYP4V2,KLKB1c.1259T>A (p.Val420Asp)
n.494T>A
n.5957T>A
c.55T>A
n.349T>A
c.1256T>A (p.Val419Asp)
c.863T>A (p.Val288Asp)
4g.186209126T>CCA358950407CYP4V2,KLKB1c.1259T>C (p.Val420Ala)
n.494T>C
n.5957T>C
c.55T>C
n.349T>C
c.1256T>C (p.Val419Ala)
c.863T>C (p.Val288Ala)
4g.186209126T>GCA358950408CYP4V2,KLKB1c.1259T>G (p.Val420Gly)
n.494T>G
n.5957T>G
c.55T>G
n.349T>G
c.1256T>G (p.Val419Gly)
c.863T>G (p.Val288Gly)
4g.186209126dupCA2672897686CYP4V2,KLKB1c.1259dup (p.Ile421HisfsTer22)
n.494dup
n.5957dup
c.55dup
n.349dup
c.1256dup (p.Ile420HisfsTer22)
c.863dup (p.Ile289HisfsTer22)
 gnomAD v4
4g.186209127C>ACA442882466CYP4V2,KLKB1c.1260C>A (p.Val420=)
n.495C>A
n.5958C>A
c.56C>A
n.350C>A
c.1257C>A (p.Val419=)
c.864C>A (p.Val288=)
4g.186209127C>GCA442882467CYP4V2,KLKB1c.1260C>G (p.Val420=)
n.495C>G
n.5958C>G
c.56C>G
n.350C>G
c.1257C>G (p.Val419=)
c.864C>G (p.Val288=)
4g.186209127C>TCA442882470CYP4V2,KLKB1c.1260C>T (p.Val420=)
n.495C>T
n.5958C>T
c.56C>T
n.350C>T
c.1257C>T (p.Val419=)
c.864C>T (p.Val288=)

Number of alleles fetched