Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186209205dupCA1519891466CYP4V2,KLKB1c.1338dup (p.Glu447ArgfsTer?)
n.573dup
n.6036dup
c.134dup
n.428dup
c.1335dup (p.Glu446ArgfsTer?)
c.942dup (p.Glu315ArgfsTer?)
 dbSNP
4g.186209205delCA3162832CYP4V2,KLKB1c.1338del (p.Glu447ArgfsTer22)
n.573del
n.6036del
c.134del
n.428del
c.1335del (p.Glu446ArgfsTer22)
c.942del (p.Glu315ArgfsTer22)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209205C>ACA442882731CYP4V2,KLKB1c.1338C>A (p.Pro446=)
n.573C>A
n.6036C>A
c.134C>A
n.428C>A
c.1335C>A (p.Pro445=)
c.942C>A (p.Pro314=)
4g.186209205C=CA1519891468CYP4V2,KLKB1c.1338C= (p.Pro446=)
n.573C=
n.6036C=
c.134C=
n.428C=
c.1335C= (p.Pro445=)
c.942C= (p.Pro314=)
4g.186209205C>GCA3162833CYP4V2,KLKB1c.1338C>G (p.Pro446=)
n.573C>G
n.6036C>G
c.134C>G
n.428C>G
c.1335C>G (p.Pro445=)
c.942C>G (p.Pro314=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209205C>TCA3162834CYP4V2,KLKB1c.1338C>T (p.Pro446=)
n.573C>T
n.6036C>T
c.134C>T
n.428C>T
c.1335C>T (p.Pro445=)
c.942C>T (p.Pro314=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209206G>ACA3162835CYP4V2,KLKB1c.1339G>A (p.Glu447Lys)
n.574G>A
n.6037G>A
c.135G>A
n.429G>A
c.1336G>A (p.Glu446Lys)
c.943G>A (p.Glu315Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209206G>CCA358950582CYP4V2,KLKB1c.1339G>C (p.Glu447Gln)
n.574G>C
n.6037G>C
c.135G>C
n.429G>C
c.1336G>C (p.Glu446Gln)
c.943G>C (p.Glu315Gln)
4g.186209206G=CA1519891469CYP4V2,KLKB1c.1339G= (p.Glu447=)
n.574G=
n.6037G=
c.135G=
n.429G=
c.1336G= (p.Glu446=)
c.943G= (p.Glu315=)
4g.186209206G>TCA358950583CYP4V2,KLKB1c.1339G>T (p.Glu447Ter)
n.574G>T
n.6037G>T
c.135G>T
n.429G>T
c.1336G>T (p.Glu446Ter)
c.943G>T (p.Glu315Ter)
4g.186209207A>CCA358950586CYP4V2,KLKB1c.1340A>C (p.Glu447Ala)
n.575A>C
n.6038A>C
c.136A>C
n.430A>C
c.1337A>C (p.Glu446Ala)
c.944A>C (p.Glu315Ala)
4g.186209207A>GCA358950584CYP4V2,KLKB1c.1340A>G (p.Glu447Gly)
n.575A>G
n.6038A>G
c.136A>G
n.430A>G
c.1337A>G (p.Glu446Gly)
c.944A>G (p.Glu315Gly)
4g.186209207A>TCA358950585CYP4V2,KLKB1c.1340A>T (p.Glu447Val)
n.575A>T
n.6038A>T
c.136A>T
n.430A>T
c.1337A>T (p.Glu446Val)
c.944A>T (p.Glu315Val)
4g.186209208G>ACA442882744CYP4V2,KLKB1c.1341G>A (p.Glu447=)
n.576G>A
n.6039G>A
c.137G>A
n.431G>A
c.1338G>A (p.Glu446=)
c.945G>A (p.Glu315=)
 gnomAD v4
4g.186209208G>CCA358950587CYP4V2,KLKB1c.1341G>C (p.Glu447Asp)
n.576G>C
n.6039G>C
c.137G>C
n.431G>C
c.1338G>C (p.Glu446Asp)
c.945G>C (p.Glu315Asp)
4g.186209208G>TCA358950588CYP4V2,KLKB1c.1341G>T (p.Glu447Asp)
n.576G>T
n.6039G>T
c.137G>T
n.431G>T
c.1338G>T (p.Glu446Asp)
c.945G>T (p.Glu315Asp)
4g.186209209A>CCA358950589CYP4V2,KLKB1c.1342A>C (p.Asn448His)
n.577A>C
n.6040A>C
c.138A>C
n.432A>C
c.1339A>C (p.Asn447His)
c.946A>C (p.Asn316His)
4g.186209209A>GCA358950590CYP4V2,KLKB1c.1342A>G (p.Asn448Asp)
n.577A>G
n.6040A>G
c.138A>G
n.432A>G
c.1339A>G (p.Asn447Asp)
c.946A>G (p.Asn316Asp)
4g.186209209A>TCA358950591CYP4V2,KLKB1c.1342A>T (p.Asn448Tyr)
n.577A>T
n.6040A>T
c.138A>T
n.432A>T
c.1339A>T (p.Asn447Tyr)
c.946A>T (p.Asn316Tyr)
4g.186209210A>CCA358950594CYP4V2,KLKB1c.1343A>C (p.Asn448Thr)
n.578A>C
n.6041A>C
c.139A>C
n.433A>C
c.1340A>C (p.Asn447Thr)
c.947A>C (p.Asn316Thr)
4g.186209210A>GCA358950593CYP4V2,KLKB1c.1343A>G (p.Asn448Ser)
n.578A>G
n.6041A>G
c.139A>G
n.433A>G
c.1340A>G (p.Asn447Ser)
c.947A>G (p.Asn316Ser)
 gnomAD v4
4g.186209210A>TCA358950592CYP4V2,KLKB1c.1343A>T (p.Asn448Ile)
n.578A>T
n.6041A>T
c.139A>T
n.433A>T
c.1340A>T (p.Asn447Ile)
c.947A>T (p.Asn316Ile)
4g.186209211T>ACA358950595CYP4V2,KLKB1c.1344T>A (p.Asn448Lys)
n.579T>A
n.6042T>A
c.140T>A
n.434T>A
c.1341T>A (p.Asn447Lys)
c.948T>A (p.Asn316Lys)
4g.186209211T>CCA3162836CYP4V2,KLKB1c.1344T>C (p.Asn448=)
n.579T>C
n.6042T>C
c.140T>C
n.434T>C
c.1341T>C (p.Asn447=)
c.948T>C (p.Asn316=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209211T>GCA358950596CYP4V2,KLKB1c.1344T>G (p.Asn448Lys)
n.579T>G
n.6042T>G
c.140T>G
n.434T>G
c.1341T>G (p.Asn447Lys)
c.948T>G (p.Asn316Lys)
4g.186209211T=CA1519891470CYP4V2,KLKB1c.1344T= (p.Asn448=)
n.579T=
n.6042T=
c.140T=
n.434T=
c.1341T= (p.Asn447=)
c.948T= (p.Asn316=)
4g.186209212G>ACA358950597CYP4V2,KLKB1c.1345G>A (p.Ala449Thr)
n.580G>A
n.6043G>A
c.141G>A
n.435G>A
c.1342G>A (p.Ala448Thr)
c.949G>A (p.Ala317Thr)
 ClinVar gnomAD v4
4g.186209212G>CCA358950599CYP4V2,KLKB1c.1345G>C (p.Ala449Pro)
n.580G>C
n.6043G>C
c.141G>C
n.435G>C
c.1342G>C (p.Ala448Pro)
c.949G>C (p.Ala317Pro)
4g.186209212G>TCA358950598CYP4V2,KLKB1c.1345G>T (p.Ala449Ser)
n.580G>T
n.6043G>T
c.141G>T
n.435G>T
c.1342G>T (p.Ala448Ser)
c.949G>T (p.Ala317Ser)
4g.186209213C>ACA358950600CYP4V2,KLKB1c.1346C>A (p.Ala449Glu)
n.581C>A
n.6044C>A
c.142C>A
n.436C>A
c.1343C>A (p.Ala448Glu)
c.950C>A (p.Ala317Glu)
4g.186209213C>GCA358950601CYP4V2,KLKB1c.1346C>G (p.Ala449Gly)
n.581C>G
n.6044C>G
c.142C>G
n.436C>G
c.1343C>G (p.Ala448Gly)
c.950C>G (p.Ala317Gly)
4g.186209213C>TCA358950602CYP4V2,KLKB1c.1346C>T (p.Ala449Val)
n.581C>T
n.6044C>T
c.142C>T
n.436C>T
c.1343C>T (p.Ala448Val)
c.950C>T (p.Ala317Val)
4g.186209214A=CA1519891471CYP4V2,KLKB1c.1347A= (p.Ala449=)
n.582A=
n.6045A=
c.143A=
n.437A=
c.1344A= (p.Ala448=)
c.951A= (p.Ala317=)
4g.186209214A>CCA442882766CYP4V2,KLKB1c.1347A>C (p.Ala449=)
n.582A>C
n.6045A>C
c.143A>C
n.437A>C
c.1344A>C (p.Ala448=)
c.951A>C (p.Ala317=)
 dbSNP gnomAD v4
4g.186209214A>GCA442882768CYP4V2,KLKB1c.1347A>G (p.Ala449=)
n.582A>G
n.6045A>G
c.143A>G
n.437A>G
c.1344A>G (p.Ala448=)
c.951A>G (p.Ala317=)
4g.186209214A>TCA442882770CYP4V2,KLKB1c.1347A>T (p.Ala449=)
n.582A>T
n.6045A>T
c.143A>T
n.437A>T
c.1344A>T (p.Ala448=)
c.951A>T (p.Ala317=)
4g.186209215C>ACA358950603CYP4V2,KLKB1c.1348C>A (p.Gln450Lys)
n.583C>A
n.6046C>A
c.144C>A
n.438C>A
c.1345C>A (p.Gln449Lys)
c.952C>A (p.Gln318Lys)
4g.186209215C=CA1519891472CYP4V2,KLKB1c.1348C= (p.Gln450=)
n.583C=
n.6046C=
c.144C=
n.438C=
c.1345C= (p.Gln449=)
c.952C= (p.Gln318=)
4g.186209215C>GCA358950604CYP4V2,KLKB1c.1348C>G (p.Gln450Glu)
n.583C>G
n.6046C>G
c.144C>G
n.438C>G
c.1345C>G (p.Gln449Glu)
c.952C>G (p.Gln318Glu)
 gnomAD v4
4g.186209215C>TCA343717CYP4V2,KLKB1c.1348C>T (p.Gln450Ter)
n.583C>T
n.6046C>T
c.144C>T
n.438C>T
c.1345C>T (p.Gln449Ter)
c.952C>T (p.Gln318Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186209216A=CA1519891473CYP4V2,KLKB1c.1349A= (p.Gln450=)
n.584A=
n.6047A=
c.145A=
n.439A=
c.1346A= (p.Gln449=)
c.953A= (p.Gln318=)
4g.186209216A>CCA358950605CYP4V2,KLKB1c.1349A>C (p.Gln450Pro)
n.584A>C
n.6047A>C
c.145A>C
n.439A>C
c.1346A>C (p.Gln449Pro)
c.953A>C (p.Gln318Pro)
4g.186209216A>GCA358950606CYP4V2,KLKB1c.1349A>G (p.Gln450Arg)
n.584A>G
n.6047A>G
c.145A>G
n.439A>G
c.1346A>G (p.Gln449Arg)
c.953A>G (p.Gln318Arg)
 dbSNP gnomAD v4
4g.186209216A>TCA358950607CYP4V2,KLKB1c.1349A>T (p.Gln450Leu)
n.584A>T
n.6047A>T
c.145A>T
n.439A>T
c.1346A>T (p.Gln449Leu)
c.953A>T (p.Gln318Leu)
4g.186209217A=CA1519891474CYP4V2,KLKB1c.1350A= (p.Gln450=)
n.585A=
n.6048A=
c.146A=
n.440A=
c.1347A= (p.Gln449=)
c.954A= (p.Gln318=)
4g.186209217A>CCA358950608CYP4V2,KLKB1c.1350A>C (p.Gln450His)
n.585A>C
n.6048A>C
c.146A>C
n.440A>C
c.1347A>C (p.Gln449His)
c.954A>C (p.Gln318His)
4g.186209217A>GCA442882781CYP4V2,KLKB1c.1350A>G (p.Gln450=)
n.585A>G
n.6048A>G
c.146A>G
n.440A>G
c.1347A>G (p.Gln449=)
c.954A>G (p.Gln318=)
 dbSNP gnomAD v2 gnomAD v4
4g.186209217A>TCA358950609CYP4V2,KLKB1c.1350A>T (p.Gln450His)
n.585A>T
n.6048A>T
c.146A>T
n.440A>T
c.1347A>T (p.Gln449His)
c.954A>T (p.Gln318His)
4g.186209218G>ACA358950611CYP4V2,KLKB1c.1351G>A (p.Gly451Arg)
n.586G>A
n.6049G>A
c.147G>A
n.441G>A
c.1348G>A (p.Gly450Arg)
c.955G>A (p.Gly319Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.186209218G>CCA3162837CYP4V2,KLKB1c.1351G>C (p.Gly451Arg)
n.586G>C
n.6049G>C
c.147G>C
n.441G>C
c.1348G>C (p.Gly450Arg)
c.955G>C (p.Gly319Arg)
 dbSNP ExAC gnomAD v2

Number of alleles fetched