Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
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

Number of alleles fetched