Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186209135C>ACA358950426CYP4V2,KLKB1c.1268C>A (p.Pro423His)
n.503C>A
n.5966C>A
c.64C>A
n.358C>A
c.1265C>A (p.Pro422His)
c.872C>A (p.Pro291His)
4g.186209135C=CA1519891423CYP4V2,KLKB1c.1268C= (p.Pro423=)
n.503C=
n.5966C=
c.64C=
n.358C=
c.1265C= (p.Pro422=)
c.872C= (p.Pro291=)
4g.186209135C>GCA358950427CYP4V2,KLKB1c.1268C>G (p.Pro423Arg)
n.503C>G
n.5966C>G
c.64C>G
n.358C>G
c.1265C>G (p.Pro422Arg)
c.872C>G (p.Pro291Arg)
4g.186209135C>TCA358950428CYP4V2,KLKB1c.1268C>T (p.Pro423Leu)
n.503C>T
n.5966C>T
c.64C>T
n.358C>T
c.1265C>T (p.Pro422Leu)
c.872C>T (p.Pro291Leu)
 dbSNP gnomAD v4
4g.186209136C>ACA442882497CYP4V2,KLKB1c.1269C>A (p.Pro423=)
n.504C>A
n.5967C>A
c.65C>A
n.359C>A
c.1266C>A (p.Pro422=)
c.873C>A (p.Pro291=)
4g.186209136C=CA1519891424CYP4V2,KLKB1c.1269C= (p.Pro423=)
n.504C=
n.5967C=
c.65C=
n.359C=
c.1266C= (p.Pro422=)
c.873C= (p.Pro291=)
4g.186209136C>GCA442882499CYP4V2,KLKB1c.1269C>G (p.Pro423=)
n.504C>G
n.5967C>G
c.65C>G
n.359C>G
c.1266C>G (p.Pro422=)
c.873C>G (p.Pro291=)
4g.186209136C>TCA112135019CYP4V2,KLKB1c.1269C>T (p.Pro423=)
n.504C>T
n.5967C>T
c.65C>T
n.359C>T
c.1266C>T (p.Pro422=)
c.873C>T (p.Pro291=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186209137T>ACA358950429CYP4V2,KLKB1c.1270T>A (p.Tyr424Asn)
n.505T>A
n.5968T>A
c.66T>A
n.360T>A
c.1267T>A (p.Tyr423Asn)
c.874T>A (p.Tyr292Asn)
4g.186209137T>CCA358950431CYP4V2,KLKB1c.1270T>C (p.Tyr424His)
n.505T>C
n.5968T>C
c.66T>C
n.360T>C
c.1267T>C (p.Tyr423His)
c.874T>C (p.Tyr292His)
4g.186209137T>GCA358950430CYP4V2,KLKB1c.1270T>G (p.Tyr424Asp)
n.505T>G
n.5968T>G
c.66T>G
n.360T>G
c.1267T>G (p.Tyr423Asp)
c.874T>G (p.Tyr292Asp)
4g.186209138A=CA1519891425CYP4V2,KLKB1c.1271A= (p.Tyr424=)
n.506A=
n.5969A=
c.67A=
n.361A=
c.1268A= (p.Tyr423=)
c.875A= (p.Tyr292=)
4g.186209138A>CCA358950432CYP4V2,KLKB1c.1271A>C (p.Tyr424Ser)
n.506A>C
n.5969A>C
c.67A>C
n.361A>C
c.1268A>C (p.Tyr423Ser)
c.875A>C (p.Tyr292Ser)
4g.186209138A>GCA3162813CYP4V2,KLKB1c.1271A>G (p.Tyr424Cys)
n.506A>G
n.5969A>G
c.67A>G
n.361A>G
c.1268A>G (p.Tyr423Cys)
c.875A>G (p.Tyr292Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209138A>TCA358950433CYP4V2,KLKB1c.1271A>T (p.Tyr424Phe)
n.506A>T
n.5969A>T
c.67A>T
n.361A>T
c.1268A>T (p.Tyr423Phe)
c.875A>T (p.Tyr292Phe)
4g.186209139T>ACA358950434CYP4V2,KLKB1c.1272T>A (p.Tyr424Ter)
n.507T>A
n.5970T>A
c.68T>A
n.362T>A
c.1269T>A (p.Tyr423Ter)
c.876T>A (p.Tyr292Ter)
4g.186209139T>CCA442882509CYP4V2,KLKB1c.1272T>C (p.Tyr424=)
n.507T>C
n.5970T>C
c.68T>C
n.362T>C
c.1269T>C (p.Tyr423=)
c.876T>C (p.Tyr292=)
 ClinVar dbSNP
4g.186209139T>GCA358950435CYP4V2,KLKB1c.1272T>G (p.Tyr424Ter)
n.507T>G
n.5970T>G
c.68T>G
n.362T>G
c.1269T>G (p.Tyr423Ter)
c.876T>G (p.Tyr292Ter)
4g.186209140G>ACA112135036CYP4V2,KLKB1c.1273G>A (p.Ala425Thr)
n.508G>A
n.5971G>A
c.69G>A
n.363G>A
c.1270G>A (p.Ala424Thr)
c.877G>A (p.Ala293Thr)
 ClinVar dbSNP gnomAD v4
4g.186209140G>CCA358950436CYP4V2,KLKB1c.1273G>C (p.Ala425Pro)
n.508G>C
n.5971G>C
c.69G>C
n.363G>C
c.1270G>C (p.Ala424Pro)
c.877G>C (p.Ala293Pro)
4g.186209140G=CA1519891426CYP4V2,KLKB1c.1273G= (p.Ala425=)
n.508G=
n.5971G=
c.69G=
n.363G=
c.1270G= (p.Ala424=)
c.877G= (p.Ala293=)
4g.186209140G>TCA358950437CYP4V2,KLKB1c.1273G>T (p.Ala425Ser)
n.508G>T
n.5971G>T
c.69G>T
n.363G>T
c.1270G>T (p.Ala424Ser)
c.877G>T (p.Ala293Ser)
4g.186209141C>ACA358950438CYP4V2,KLKB1c.1274C>A (p.Ala425Glu)
n.509C>A
n.5972C>A
c.70C>A
n.364C>A
c.1271C>A (p.Ala424Glu)
c.878C>A (p.Ala293Glu)
 gnomAD v4
4g.186209141C=CA1519891427CYP4V2,KLKB1c.1274C= (p.Ala425=)
n.509C=
n.5972C=
c.70C=
n.364C=
c.1271C= (p.Ala424=)
c.878C= (p.Ala293=)
4g.186209141C>GCA358950439CYP4V2,KLKB1c.1274C>G (p.Ala425Gly)
n.509C>G
n.5972C>G
c.70C>G
n.364C>G
c.1271C>G (p.Ala424Gly)
c.878C>G (p.Ala293Gly)
4g.186209141C>TCA3162814CYP4V2,KLKB1c.1274C>T (p.Ala425Val)
n.509C>T
n.5972C>T
c.70C>T
n.364C>T
c.1271C>T (p.Ala424Val)
c.878C>T (p.Ala293Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209142A=CA1519891428CYP4V2,KLKB1c.1275A= (p.Ala425=)
n.510A=
n.5973A=
c.71A=
n.365A=
c.1272A= (p.Ala424=)
c.879A= (p.Ala293=)
4g.186209142A>CCA442882527CYP4V2,KLKB1c.1275A>C (p.Ala425=)
n.510A>C
n.5973A>C
c.71A>C
n.365A>C
c.1272A>C (p.Ala424=)
c.879A>C (p.Ala293=)
 gnomAD v4
4g.186209142A>GCA442882528CYP4V2,KLKB1c.1275A>G (p.Ala425=)
n.510A>G
n.5973A>G
c.71A>G
n.365A>G
c.1272A>G (p.Ala424=)
c.879A>G (p.Ala293=)
 dbSNP gnomAD v2 gnomAD v4
4g.186209142A>TCA442882530CYP4V2,KLKB1c.1275A>T (p.Ala425=)
n.510A>T
n.5973A>T
c.71A>T
n.365A>T
c.1272A>T (p.Ala424=)
c.879A>T (p.Ala293=)
4g.186209143T>ACA358950440CYP4V2,KLKB1c.1276T>A (p.Leu426Met)
n.511T>A
n.5974T>A
c.72T>A
n.366T>A
c.1273T>A (p.Leu425Met)
c.880T>A (p.Leu294Met)
4g.186209143T>CCA442882533CYP4V2,KLKB1c.1276T>C (p.Leu426=)
n.511T>C
n.5974T>C
c.72T>C
n.366T>C
c.1273T>C (p.Leu425=)
c.880T>C (p.Leu294=)
4g.186209143T>GCA358950441CYP4V2,KLKB1c.1276T>G (p.Leu426Val)
n.511T>G
n.5974T>G
c.72T>G
n.366T>G
c.1273T>G (p.Leu425Val)
c.880T>G (p.Leu294Val)
4g.186209144T>ACA358950444CYP4V2,KLKB1c.1277T>A (p.Leu426Ter)
n.512T>A
n.5975T>A
c.73T>A
n.367T>A
c.1274T>A (p.Leu425Ter)
c.881T>A (p.Leu294Ter)
4g.186209144T>CCA358950443CYP4V2,KLKB1c.1277T>C (p.Leu426Ser)
n.512T>C
n.5975T>C
c.73T>C
n.367T>C
c.1274T>C (p.Leu425Ser)
c.881T>C (p.Leu294Ser)
 dbSNP
4g.186209144T>GCA358950442CYP4V2,KLKB1c.1277T>G (p.Leu426Trp)
n.512T>G
n.5975T>G
c.73T>G
n.367T>G
c.1274T>G (p.Leu425Trp)
c.881T>G (p.Leu294Trp)
4g.186209144T=CA1519891429CYP4V2,KLKB1c.1277T= (p.Leu426=)
n.512T=
n.5975T=
c.73T=
n.367T=
c.1274T= (p.Leu425=)
c.881T= (p.Leu294=)
4g.186209145G>ACA3162815CYP4V2,KLKB1c.1278G>A (p.Leu426=)
n.513G>A
n.5976G>A
c.74G>A
n.368G>A
c.1275G>A (p.Leu425=)
c.882G>A (p.Leu294=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209145G>CCA358950445CYP4V2,KLKB1c.1278G>C (p.Leu426Phe)
n.513G>C
n.5976G>C
c.74G>C
n.368G>C
c.1275G>C (p.Leu425Phe)
c.882G>C (p.Leu294Phe)
4g.186209145G=CA1519891430CYP4V2,KLKB1c.1278G= (p.Leu426=)
n.513G=
n.5976G=
c.74G=
n.368G=
c.1275G= (p.Leu425=)
c.882G= (p.Leu294=)
4g.186209145G>TCA358950446CYP4V2,KLKB1c.1278G>T (p.Leu426Phe)
n.513G>T
n.5976G>T
c.74G>T
n.368G>T
c.1275G>T (p.Leu425Phe)
c.882G>T (p.Leu294Phe)
4g.186209146C>ACA358950447CYP4V2,KLKB1c.1279C>A (p.His427Asn)
n.514C>A
n.5977C>A
c.75C>A
n.369C>A
c.1276C>A (p.His426Asn)
c.883C>A (p.His295Asn)
4g.186209146C=CA1519891431CYP4V2,KLKB1c.1279C= (p.His427=)
n.514C=
n.5977C=
c.75C=
n.369C=
c.1276C= (p.His426=)
c.883C= (p.His295=)
4g.186209146C>GCA358950448CYP4V2,KLKB1c.1279C>G (p.His427Asp)
n.514C>G
n.5977C>G
c.75C>G
n.369C>G
c.1276C>G (p.His426Asp)
c.883C>G (p.His295Asp)
4g.186209146C>TCA358950449CYP4V2,KLKB1c.1279C>T (p.His427Tyr)
n.514C>T
n.5977C>T
c.75C>T
n.369C>T
c.1276C>T (p.His426Tyr)
c.883C>T (p.His295Tyr)
 dbSNP gnomAD v2
4g.186209147A=CA1519891432CYP4V2,KLKB1c.1280A= (p.His427=)
n.515A=
n.5978A=
c.76A=
n.370A=
c.1277A= (p.His426=)
c.884A= (p.His295=)
4g.186209147A>CCA358950450CYP4V2,KLKB1c.1280A>C (p.His427Pro)
n.515A>C
n.5978A>C
c.76A>C
n.370A>C
c.1277A>C (p.His426Pro)
c.884A>C (p.His295Pro)
4g.186209147A>GCA358950451CYP4V2,KLKB1c.1280A>G (p.His427Arg)
n.515A>G
n.5978A>G
c.76A>G
n.370A>G
c.1277A>G (p.His426Arg)
c.884A>G (p.His295Arg)
 dbSNP
4g.186209147A>TCA358950452CYP4V2,KLKB1c.1280A>T (p.His427Leu)
n.515A>T
n.5978A>T
c.76A>T
n.370A>T
c.1277A>T (p.His426Leu)
c.884A>T (p.His295Leu)
4g.186209148C>ACA358950453CYP4V2,KLKB1c.1281C>A (p.His427Gln)
n.516C>A
n.5979C>A
c.77C>A
n.371C>A
c.1278C>A (p.His426Gln)
c.885C>A (p.His295Gln)

Number of alleles fetched