Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
4g.186209128A=CA1519891421CYP4V2,KLKB1c.1261A= (p.Ile421=)
n.496A=
n.5959A=
c.57A=
n.351A=
c.1258A= (p.Ile420=)
c.865A= (p.Ile289=)
4g.186209128A>CCA358950409CYP4V2,KLKB1c.1261A>C (p.Ile421Leu)
n.496A>C
n.5959A>C
c.57A>C
n.351A>C
c.1258A>C (p.Ile420Leu)
c.865A>C (p.Ile289Leu)
4g.186209128A>GCA358950411CYP4V2,KLKB1c.1261A>G (p.Ile421Val)
n.496A>G
n.5959A>G
c.57A>G
n.351A>G
c.1258A>G (p.Ile420Val)
c.865A>G (p.Ile289Val)
dbSNP gnomAD v4
4g.186209128A>TCA358950410CYP4V2,KLKB1c.1261A>T (p.Ile421Phe)
n.496A>T
n.5959A>T
c.57A>T
n.351A>T
c.1258A>T (p.Ile420Phe)
c.865A>T (p.Ile289Phe)
4g.186209129T>ACA358950412CYP4V2,KLKB1c.1262T>A (p.Ile421Asn)
n.497T>A
n.5960T>A
c.58T>A
n.352T>A
c.1259T>A (p.Ile420Asn)
c.866T>A (p.Ile289Asn)
4g.186209129T>CCA358950413CYP4V2,KLKB1c.1262T>C (p.Ile421Thr)
n.497T>C
n.5960T>C
c.58T>C
n.352T>C
c.1259T>C (p.Ile420Thr)
c.866T>C (p.Ile289Thr)
4g.186209129T>GCA358950414CYP4V2,KLKB1c.1262T>G (p.Ile421Ser)
n.497T>G
n.5960T>G
c.58T>G
n.352T>G
c.1259T>G (p.Ile420Ser)
c.866T>G (p.Ile289Ser)
4g.186209130C>ACA442882478CYP4V2,KLKB1c.1263C>A (p.Ile421=)
n.498C>A
n.5961C>A
c.59C>A
n.353C>A
c.1260C>A (p.Ile420=)
c.867C>A (p.Ile289=)
4g.186209130C>GCA358950415CYP4V2,KLKB1c.1263C>G (p.Ile421Met)
n.498C>G
n.5961C>G
c.59C>G
n.353C>G
c.1260C>G (p.Ile420Met)
c.867C>G (p.Ile289Met)
4g.186209130C>TCA442882480CYP4V2,KLKB1c.1263C>T (p.Ile421=)
n.498C>T
n.5961C>T
c.59C>T
n.353C>T
c.1260C>T (p.Ile420=)
c.867C>T (p.Ile289=)
4g.186209131A>CCA358950416CYP4V2,KLKB1c.1264A>C (p.Ile422Leu)
n.499A>C
n.5962A>C
c.60A>C
n.354A>C
c.1261A>C (p.Ile421Leu)
c.868A>C (p.Ile290Leu)
4g.186209131A>GCA358950418CYP4V2,KLKB1c.1264A>G (p.Ile422Val)
n.499A>G
n.5962A>G
c.60A>G
n.354A>G
c.1261A>G (p.Ile421Val)
c.868A>G (p.Ile290Val)
gnomAD v4
4g.186209131A>TCA358950417CYP4V2,KLKB1c.1264A>T (p.Ile422Phe)
n.499A>T
n.5962A>T
c.60A>T
n.354A>T
c.1261A>T (p.Ile421Phe)
c.868A>T (p.Ile290Phe)
4g.186209132T>ACA358950419CYP4V2,KLKB1c.1265T>A (p.Ile422Asn)
n.500T>A
n.5963T>A
c.61T>A
n.355T>A
c.1262T>A (p.Ile421Asn)
c.869T>A (p.Ile290Asn)
4g.186209132T>CCA358950420CYP4V2,KLKB1c.1265T>C (p.Ile422Thr)
n.500T>C
n.5963T>C
c.61T>C
n.355T>C
c.1262T>C (p.Ile421Thr)
c.869T>C (p.Ile290Thr)
4g.186209132T>GCA358950421CYP4V2,KLKB1c.1265T>G (p.Ile422Ser)
n.500T>G
n.5963T>G
c.61T>G
n.355T>G
c.1262T>G (p.Ile421Ser)
c.869T>G (p.Ile290Ser)
4g.186209133T>ACA442882487CYP4V2,KLKB1c.1266T>A (p.Ile422=)
n.501T>A
n.5964T>A
c.62T>A
n.356T>A
c.1263T>A (p.Ile421=)
c.870T>A (p.Ile290=)
4g.186209133T>CCA442882488CYP4V2,KLKB1c.1266T>C (p.Ile422=)
n.501T>C
n.5964T>C
c.62T>C
n.356T>C
c.1263T>C (p.Ile421=)
c.870T>C (p.Ile290=)
gnomAD v4
4g.186209133T>GCA358950422CYP4V2,KLKB1c.1266T>G (p.Ile422Met)
n.501T>G
n.5964T>G
c.62T>G
n.356T>G
c.1263T>G (p.Ile421Met)
c.870T>G (p.Ile290Met)
4g.186209134C>ACA358950423CYP4V2,KLKB1c.1267C>A (p.Pro423Thr)
n.502C>A
n.5965C>A
c.63C>A
n.357C>A
c.1264C>A (p.Pro422Thr)
c.871C>A (p.Pro291Thr)
4g.186209134C=CA1519891422CYP4V2,KLKB1c.1267C= (p.Pro423=)
n.502C=
n.5965C=
c.63C=
n.357C=
c.1264C= (p.Pro422=)
c.871C= (p.Pro291=)
4g.186209134C>GCA358950424CYP4V2,KLKB1c.1267C>G (p.Pro423Ala)
n.502C>G
n.5965C>G
c.63C>G
n.357C>G
c.1264C>G (p.Pro422Ala)
c.871C>G (p.Pro291Ala)
4g.186209134C>TCA358950425CYP4V2,KLKB1c.1267C>T (p.Pro423Ser)
n.502C>T
n.5965C>T
c.63C>T
n.357C>T
c.1264C>T (p.Pro422Ser)
c.871C>T (p.Pro291Ser)
dbSNP gnomAD v4
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)
4g.186209148C>GCA358950454CYP4V2,KLKB1c.1281C>G (p.His427Gln)
n.516C>G
n.5979C>G
c.77C>G
n.371C>G
c.1278C>G (p.His426Gln)
c.885C>G (p.His295Gln)
4g.186209148C>TCA442882462CYP4V2,KLKB1c.1281C>T (p.His427=)
n.516C>T
n.5979C>T
c.77C>T
n.371C>T
c.1278C>T (p.His426=)
c.885C>T (p.His295=)
4g.186209149A>CCA442882468CYP4V2,KLKB1c.1282A>C (p.Arg428=)
n.517A>C
n.5980A>C
c.78A>C
n.372A>C
c.1279A>C (p.Arg427=)
c.886A>C (p.Arg296=)
4g.186209149A>GCA358950455CYP4V2,KLKB1c.1282A>G (p.Arg428Gly)
n.517A>G
n.5980A>G
c.78A>G
n.372A>G
c.1279A>G (p.Arg427Gly)
c.886A>G (p.Arg296Gly)
gnomAD v4
4g.186209149A>TCA358950456CYP4V2,KLKB1c.1282A>T (p.Arg428Ter)
n.517A>T
n.5980A>T
c.78A>T
n.372A>T
c.1279A>T (p.Arg427Ter)
c.886A>T (p.Arg296Ter)
4g.186209150G>ACA358950458CYP4V2,KLKB1c.1283G>A (p.Arg428Lys)
n.518G>A
n.5981G>A
c.79G>A
n.373G>A
c.1280G>A (p.Arg427Lys)
c.887G>A (p.Arg296Lys)
4g.186209150G>CCA358950459CYP4V2,KLKB1c.1283G>C (p.Arg428Thr)
n.518G>C
n.5981G>C
c.79G>C
n.373G>C
c.1280G>C (p.Arg427Thr)
c.887G>C (p.Arg296Thr)
4g.186209150G>TCA358950457CYP4V2,KLKB1c.1283G>T (p.Arg428Ile)
n.518G>T
n.5981G>T
c.79G>T
n.373G>T
c.1280G>T (p.Arg427Ile)
c.887G>T (p.Arg296Ile)
4g.186209153_186209178dupCA2672897705CYP4V2,KLKB1c.1286_1311dup (p.Glu438IlefsTer?)
n.521_546dup
n.5984_6009dup
c.82_107dup
n.376_401dup
c.1283_1308dup (p.Glu437IlefsTer?)
c.890_915dup (p.Glu306IlefsTer?)
gnomAD v4
4g.186209151A=CA1519891433CYP4V2,KLKB1c.1284A= (p.Arg428=)
n.519A=
n.5982A=
c.80A=
n.374A=
c.1281A= (p.Arg427=)
c.888A= (p.Arg296=)
4g.186209151A>CCA358950460CYP4V2,KLKB1c.1284A>C (p.Arg428Ser)
n.519A>C
n.5982A>C
c.80A>C
n.374A>C
c.1281A>C (p.Arg427Ser)
c.888A>C (p.Arg296Ser)
4g.186209151A>GCA3162816CYP4V2,KLKB1c.1284A>G (p.Arg428=)
n.519A>G
n.5982A>G
c.80A>G
n.374A>G
c.1281A>G (p.Arg427=)
c.888A>G (p.Arg296=)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209151A>TCA358950461CYP4V2,KLKB1c.1284A>T (p.Arg428Ser)
n.519A>T
n.5982A>T
c.80A>T
n.374A>T
c.1281A>T (p.Arg427Ser)
c.888A>T (p.Arg296Ser)
4g.186209152G>ACA358950462CYP4V2,KLKB1c.1285G>A (p.Asp429Asn)
n.520G>A
n.5983G>A
c.81G>A
n.375G>A
c.1282G>A (p.Asp428Asn)
c.889G>A (p.Asp297Asn)
4g.186209152G>CCA358950463CYP4V2,KLKB1c.1285G>C (p.Asp429His)
n.520G>C
n.5983G>C
c.81G>C
n.375G>C
c.1282G>C (p.Asp428His)
c.889G>C (p.Asp297His)
4g.186209152G=CA1519891434CYP4V2,KLKB1c.1285G= (p.Asp429=)
n.520G=
n.5983G=
c.81G=
n.375G=
c.1282G= (p.Asp428=)
c.889G= (p.Asp297=)
4g.186209152G>TCA3162817CYP4V2,KLKB1c.1285G>T (p.Asp429Tyr)
n.520G>T
n.5983G>T
c.81G>T
n.375G>T
c.1282G>T (p.Asp428Tyr)
c.889G>T (p.Asp297Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209153A=CA1519891435CYP4V2,KLKB1c.1286A= (p.Asp429=)
n.521A=
n.5984A=
c.82A=
n.376A=
c.1283A= (p.Asp428=)
c.890A= (p.Asp297=)
4g.186209153A>CCA358950464CYP4V2,KLKB1c.1286A>C (p.Asp429Ala)
n.521A>C
n.5984A>C
c.82A>C
n.376A>C
c.1283A>C (p.Asp428Ala)
c.890A>C (p.Asp297Ala)
4g.186209153A>GCA358950465CYP4V2,KLKB1c.1286A>G (p.Asp429Gly)
n.521A>G
n.5984A>G
c.82A>G
n.376A>G
c.1283A>G (p.Asp428Gly)
c.890A>G (p.Asp297Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186209153A>TCA358950466CYP4V2,KLKB1c.1286A>T (p.Asp429Val)
n.521A>T
n.5984A>T
c.82A>T
n.376A>T
c.1283A>T (p.Asp428Val)
c.890A>T (p.Asp297Val)
4g.186209154T>ACA358950467CYP4V2,KLKB1c.1287T>A (p.Asp429Glu)
n.522T>A
n.5985T>A
c.83T>A
n.377T>A
c.1284T>A (p.Asp428Glu)
c.891T>A (p.Asp297Glu)
4g.186209154T>CCA442882492CYP4V2,KLKB1c.1287T>C (p.Asp429=)
n.522T>C
n.5985T>C
c.83T>C
n.377T>C
c.1284T>C (p.Asp428=)
c.891T>C (p.Asp297=)
4g.186209154T>GCA3162818CYP4V2,KLKB1c.1287T>G (p.Asp429Glu)
n.522T>G
n.5985T>G
c.83T>G
n.377T>G
c.1284T>G (p.Asp428Glu)
c.891T>G (p.Asp297Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209154T=CA1519891436CYP4V2,KLKB1c.1287T= (p.Asp429=)
n.522T=
n.5985T=
c.83T=
n.377T=
c.1284T= (p.Asp428=)
c.891T= (p.Asp297=)
4g.186209155C>ACA358950470CYP4V2,KLKB1c.1288C>A (p.Pro430Thr)
n.523C>A
n.5986C>A
c.84C>A
n.378C>A
c.1285C>A (p.Pro429Thr)
c.892C>A (p.Pro298Thr)
4g.186209155C>GCA358950469CYP4V2,KLKB1c.1288C>G (p.Pro430Ala)
n.523C>G
n.5986C>G
c.84C>G
n.378C>G
c.1285C>G (p.Pro429Ala)
c.892C>G (p.Pro298Ala)
4g.186209155C>TCA358950468CYP4V2,KLKB1c.1288C>T (p.Pro430Ser)
n.523C>T
n.5986C>T
c.84C>T
n.378C>T
c.1285C>T (p.Pro429Ser)
c.892C>T (p.Pro298Ser)
COSMIC
4g.186209156C>ACA358950471CYP4V2,KLKB1c.1289C>A (p.Pro430Gln)
n.524C>A
n.5987C>A
c.85C>A
n.379C>A
c.1286C>A (p.Pro429Gln)
c.893C>A (p.Pro298Gln)
4g.186209156C=CA1519891437CYP4V2,KLKB1c.1289C= (p.Pro430=)
n.524C=
n.5987C=
c.85C=
n.379C=
c.1286C= (p.Pro429=)
c.893C= (p.Pro298=)
4g.186209156C>GCA358950472CYP4V2,KLKB1c.1289C>G (p.Pro430Arg)
n.524C>G
n.5987C>G
c.85C>G
n.379C>G
c.1286C>G (p.Pro429Arg)
c.893C>G (p.Pro298Arg)
4g.186209156C>TCA3162819CYP4V2,KLKB1c.1289C>T (p.Pro430Leu)
n.524C>T
n.5987C>T
c.85C>T
n.379C>T
c.1286C>T (p.Pro429Leu)
c.893C>T (p.Pro298Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209157G>ACA3162820CYP4V2,KLKB1c.1290G>A (p.Pro430=)
n.525G>A
n.5988G>A
c.86G>A
n.380G>A
c.1287G>A (p.Pro429=)
c.894G>A (p.Pro298=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209157G>CCA442882508CYP4V2,KLKB1c.1290G>C (p.Pro430=)
n.525G>C
n.5988G>C
c.86G>C
n.380G>C
c.1287G>C (p.Pro429=)
c.894G>C (p.Pro298=)
dbSNP
4g.186209157G=CA1519891438CYP4V2,KLKB1c.1290G= (p.Pro430=)
n.525G=
n.5988G=
c.86G=
n.380G=
c.1287G= (p.Pro429=)
c.894G= (p.Pro298=)
4g.186209157G>TCA442882504CYP4V2,KLKB1c.1290G>T (p.Pro430=)
n.525G>T
n.5988G>T
c.86G>T
n.380G>T
c.1287G>T (p.Pro429=)
c.894G>T (p.Pro298=)
4g.186209158A>CCA442882511CYP4V2,KLKB1c.1291A>C (p.Arg431=)
n.526A>C
n.5989A>C
c.87A>C
n.381A>C
c.1288A>C (p.Arg430=)
c.895A>C (p.Arg299=)
4g.186209158A>GCA358950473CYP4V2,KLKB1c.1291A>G (p.Arg431Gly)
n.526A>G
n.5989A>G
c.87A>G
n.381A>G
c.1288A>G (p.Arg430Gly)
c.895A>G (p.Arg299Gly)
4g.186209158A>TCA358950474CYP4V2,KLKB1c.1291A>T (p.Arg431Ter)
n.526A>T
n.5989A>T
c.87A>T
n.381A>T
c.1288A>T (p.Arg430Ter)
c.895A>T (p.Arg299Ter)
4g.186209159G>ACA358950475CYP4V2,KLKB1c.1292G>A (p.Arg431Lys)
n.527G>A
n.5990G>A
c.88G>A
n.382G>A
c.1289G>A (p.Arg430Lys)
c.896G>A (p.Arg299Lys)
4g.186209159G>CCA358950476CYP4V2,KLKB1c.1292G>C (p.Arg431Thr)
n.527G>C
n.5990G>C
c.88G>C
n.382G>C
c.1289G>C (p.Arg430Thr)
c.896G>C (p.Arg299Thr)
4g.186209159G>TCA358950477CYP4V2,KLKB1c.1292G>T (p.Arg431Ile)
n.527G>T
n.5990G>T
c.88G>T
n.382G>T
c.1289G>T (p.Arg430Ile)
c.896G>T (p.Arg299Ile)
4g.186209160A>CCA358950478CYP4V2,KLKB1c.1293A>C (p.Arg431Ser)
n.528A>C
n.5991A>C
c.89A>C
n.383A>C
c.1290A>C (p.Arg430Ser)
c.897A>C (p.Arg299Ser)
4g.186209160A>GCA442882523CYP4V2,KLKB1c.1293A>G (p.Arg431=)
n.528A>G
n.5991A>G
c.89A>G
n.383A>G
c.1290A>G (p.Arg430=)
c.897A>G (p.Arg299=)
gnomAD v4
4g.186209160A>TCA358950479CYP4V2,KLKB1c.1293A>T (p.Arg431Ser)
n.528A>T
n.5991A>T
c.89A>T
n.383A>T
c.1290A>T (p.Arg430Ser)
c.897A>T (p.Arg299Ser)
4g.186209161T>ACA358950482CYP4V2,KLKB1c.1294T>A (p.Tyr432Asn)
n.529T>A
n.5992T>A
c.90T>A
n.384T>A
c.1291T>A (p.Tyr431Asn)
c.898T>A (p.Tyr300Asn)
4g.186209161T>CCA358950481CYP4V2,KLKB1c.1294T>C (p.Tyr432His)
n.529T>C
n.5992T>C
c.90T>C
n.384T>C
c.1291T>C (p.Tyr431His)
c.898T>C (p.Tyr300His)
dbSNP
4g.186209161T>GCA358950480CYP4V2,KLKB1c.1294T>G (p.Tyr432Asp)
n.529T>G
n.5992T>G
c.90T>G
n.384T>G
c.1291T>G (p.Tyr431Asp)
c.898T>G (p.Tyr300Asp)
4g.186209162A=CA1519891439CYP4V2,KLKB1c.1295A= (p.Tyr432=)
n.530A=
n.5993A=
c.91A=
n.385A=
c.1292A= (p.Tyr431=)
c.899A= (p.Tyr300=)
4g.186209162A>CCA358950483CYP4V2,KLKB1c.1295A>C (p.Tyr432Ser)
n.530A>C
n.5993A>C
c.91A>C
n.385A>C
c.1292A>C (p.Tyr431Ser)
c.899A>C (p.Tyr300Ser)
dbSNP gnomAD v4
4g.186209162A>GCA358950485CYP4V2,KLKB1c.1295A>G (p.Tyr432Cys)
n.530A>G
n.5993A>G
c.91A>G
n.385A>G
c.1292A>G (p.Tyr431Cys)
c.899A>G (p.Tyr300Cys)
4g.186209162A>TCA358950484CYP4V2,KLKB1c.1295A>T (p.Tyr432Phe)
n.530A>T
n.5993A>T
c.91A>T
n.385A>T
c.1292A>T (p.Tyr431Phe)
c.899A>T (p.Tyr300Phe)
4g.186209163C>ACA358950486CYP4V2,KLKB1c.1296C>A (p.Tyr432Ter)
n.531C>A
n.5994C>A
c.92C>A
n.386C>A
c.1293C>A (p.Tyr431Ter)
c.900C>A (p.Tyr300Ter)
4g.186209163C=CA1519891440CYP4V2,KLKB1c.1296C= (p.Tyr432=)
n.531C=
n.5994C=
c.92C=
n.386C=
c.1293C= (p.Tyr431=)
c.900C= (p.Tyr300=)
4g.186209163C>GCA358950487CYP4V2,KLKB1c.1296C>G (p.Tyr432Ter)
n.531C>G
n.5994C>G
c.92C>G
n.386C>G
c.1293C>G (p.Tyr431Ter)
c.900C>G (p.Tyr300Ter)
4g.186209163C>TCA442882540CYP4V2,KLKB1c.1296C>T (p.Tyr432=)
n.531C>T
n.5994C>T
c.92C>T
n.386C>T
c.1293C>T (p.Tyr431=)
c.900C>T (p.Tyr300=)
dbSNP
4g.186209164T>ACA358950488CYP4V2,KLKB1c.1297T>A (p.Phe433Ile)
n.532T>A
n.5995T>A
c.93T>A
n.387T>A
c.1294T>A (p.Phe432Ile)
c.901T>A (p.Phe301Ile)
4g.186209164T>CCA358950490CYP4V2,KLKB1c.1297T>C (p.Phe433Leu)
n.532T>C
n.5995T>C
c.93T>C
n.387T>C
c.1294T>C (p.Phe432Leu)
c.901T>C (p.Phe301Leu)
ClinVar dbSNP gnomAD v4
4g.186209164T>GCA358950489CYP4V2,KLKB1c.1297T>G (p.Phe433Val)
n.532T>G
n.5995T>G
c.93T>G
n.387T>G
c.1294T>G (p.Phe432Val)
c.901T>G (p.Phe301Val)
4g.186209164T=CA1519891441CYP4V2,KLKB1c.1297T= (p.Phe433=)
n.532T=
n.5995T=
c.93T=
n.387T=
c.1294T= (p.Phe432=)
c.901T= (p.Phe301=)
4g.186209165T>ACA358950491CYP4V2,KLKB1c.1298T>A (p.Phe433Tyr)
n.533T>A
n.5996T>A
c.94T>A
n.388T>A
c.1295T>A (p.Phe432Tyr)
c.902T>A (p.Phe301Tyr)
4g.186209165T>CCA358950492CYP4V2,KLKB1c.1298T>C (p.Phe433Ser)
n.533T>C
n.5996T>C
c.94T>C
n.388T>C
c.1295T>C (p.Phe432Ser)
c.902T>C (p.Phe301Ser)
4g.186209165T>GCA358950493CYP4V2,KLKB1c.1298T>G (p.Phe433Cys)
n.533T>G
n.5996T>G
c.94T>G
n.388T>G
c.1295T>G (p.Phe432Cys)
c.902T>G (p.Phe301Cys)
4g.186209166C>ACA358950494CYP4V2,KLKB1c.1299C>A (p.Phe433Leu)
n.534C>A
n.5997C>A
c.95C>A
n.389C>A
c.1296C>A (p.Phe432Leu)
c.903C>A (p.Phe301Leu)
4g.186209166C=CA1519891442CYP4V2,KLKB1c.1299C= (p.Phe433=)
n.534C=
n.5997C=
c.95C=
n.389C=
c.1296C= (p.Phe432=)
c.903C= (p.Phe301=)
4g.186209166C>GCA358950495CYP4V2,KLKB1c.1299C>G (p.Phe433Leu)
n.534C>G
n.5997C>G
c.95C>G
n.389C>G
c.1296C>G (p.Phe432Leu)
c.903C>G (p.Phe301Leu)
4g.186209166C>TCA442882550CYP4V2,KLKB1c.1299C>T (p.Phe433=)
n.534C>T
n.5997C>T
c.95C>T
n.389C>T
c.1296C>T (p.Phe432=)
c.903C>T (p.Phe301=)
dbSNP
4g.186209167C>ACA358950496CYP4V2,KLKB1c.1300C>A (p.Pro434Thr)
n.535C>A
n.5998C>A
c.96C>A
n.390C>A
c.1297C>A (p.Pro433Thr)
c.904C>A (p.Pro302Thr)
4g.186209167C>GCA358950497CYP4V2,KLKB1c.1300C>G (p.Pro434Ala)
n.535C>G
n.5998C>G
c.96C>G
n.390C>G
c.1297C>G (p.Pro433Ala)
c.904C>G (p.Pro302Ala)
4g.186209167C>TCA358950498CYP4V2,KLKB1c.1300C>T (p.Pro434Ser)
n.535C>T
n.5998C>T
c.96C>T
n.390C>T
c.1297C>T (p.Pro433Ser)
c.904C>T (p.Pro302Ser)
4g.186209168C>ACA358950499CYP4V2,KLKB1c.1301C>A (p.Pro434His)
n.536C>A
n.5999C>A
c.97C>A
n.391C>A
c.1298C>A (p.Pro433His)
c.905C>A (p.Pro302His)
4g.186209168C=CA1519891443CYP4V2,KLKB1c.1301C= (p.Pro434=)
n.536C=
n.5999C=
c.97C=
n.391C=
c.1298C= (p.Pro433=)
c.905C= (p.Pro302=)
4g.186209168C>GCA358950500CYP4V2,KLKB1c.1301C>G (p.Pro434Arg)
n.536C>G
n.5999C>G
c.97C>G
n.391C>G
c.1298C>G (p.Pro433Arg)
c.905C>G (p.Pro302Arg)
4g.186209168C>TCA3162821CYP4V2,KLKB1c.1301C>T (p.Pro434Leu)
n.536C>T
n.5999C>T
c.97C>T
n.391C>T
c.1298C>T (p.Pro433Leu)
c.905C>T (p.Pro302Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209169C>ACA442882561CYP4V2,KLKB1c.1302C>A (p.Pro434=)
n.537C>A
n.6000C>A
c.98C>A
n.392C>A
c.1299C>A (p.Pro433=)
c.906C>A (p.Pro302=)
4g.186209169C=CA1519891444CYP4V2,KLKB1c.1302C= (p.Pro434=)
n.537C=
n.6000C=
c.98C=
n.392C=
c.1299C= (p.Pro433=)
c.906C= (p.Pro302=)
4g.186209169C>GCA442882563CYP4V2,KLKB1c.1302C>G (p.Pro434=)
n.537C>G
n.6000C>G
c.98C>G
n.392C>G
c.1299C>G (p.Pro433=)
c.906C>G (p.Pro302=)
4g.186209169C>TCA442882565CYP4V2,KLKB1c.1302C>T (p.Pro434=)
n.537C>T
n.6000C>T
c.98C>T
n.392C>T
c.1299C>T (p.Pro433=)
c.906C>T (p.Pro302=)
dbSNP
4g.186209170A>CCA358950503CYP4V2,KLKB1c.1303A>C (p.Asn435His)
n.538A>C
n.6001A>C
c.99A>C
n.393A>C
c.1300A>C (p.Asn434His)
c.907A>C (p.Asn303His)
4g.186209170A>GCA358950501CYP4V2,KLKB1c.1303A>G (p.Asn435Asp)
n.538A>G
n.6001A>G
c.99A>G
n.393A>G
c.1300A>G (p.Asn434Asp)
c.907A>G (p.Asn303Asp)
4g.186209170A>TCA358950502CYP4V2,KLKB1c.1303A>T (p.Asn435Tyr)
n.538A>T
n.6001A>T
c.99A>T
n.393A>T
c.1300A>T (p.Asn434Tyr)
c.907A>T (p.Asn303Tyr)
4g.186209171A=CA1519891445CYP4V2,KLKB1c.1304A= (p.Asn435=)
n.539A=
n.6002A=
c.100A=
n.394A=
c.1301A= (p.Asn434=)
c.908A= (p.Asn303=)
4g.186209171A>CCA358950504CYP4V2,KLKB1c.1304A>C (p.Asn435Thr)
n.539A>C
n.6002A>C
c.100A>C
n.394A>C
c.1301A>C (p.Asn434Thr)
c.908A>C (p.Asn303Thr)
dbSNP
4g.186209171A>GCA358950505CYP4V2,KLKB1c.1304A>G (p.Asn435Ser)
n.539A>G
n.6002A>G
c.100A>G
n.394A>G
c.1301A>G (p.Asn434Ser)
c.908A>G (p.Asn303Ser)
4g.186209171A>TCA358950506CYP4V2,KLKB1c.1304A>T (p.Asn435Ile)
n.539A>T
n.6002A>T
c.100A>T
n.394A>T
c.1301A>T (p.Asn434Ile)
c.908A>T (p.Asn303Ile)
4g.186209172C>ACA358950507CYP4V2,KLKB1c.1305C>A (p.Asn435Lys)
n.540C>A
n.6003C>A
c.101C>A
n.395C>A
c.1302C>A (p.Asn434Lys)
c.909C>A (p.Asn303Lys)
gnomAD v4
4g.186209172C>GCA358950508CYP4V2,KLKB1c.1305C>G (p.Asn435Lys)
n.540C>G
n.6003C>G
c.101C>G
n.395C>G
c.1302C>G (p.Asn434Lys)
c.909C>G (p.Asn303Lys)
4g.186209172C>TCA442882576CYP4V2,KLKB1c.1305C>T (p.Asn435=)
n.540C>T
n.6003C>T
c.101C>T
n.395C>T
c.1302C>T (p.Asn434=)
c.909C>T (p.Asn303=)
4g.186209173C>ACA358950509CYP4V2,KLKB1c.1306C>A (p.Pro436Thr)
n.541C>A
n.6004C>A
c.102C>A
n.396C>A
c.1303C>A (p.Pro435Thr)
c.910C>A (p.Pro304Thr)
4g.186209173C=CA1519891446CYP4V2,KLKB1c.1306C= (p.Pro436=)
n.541C=
n.6004C=
c.102C=
n.396C=
c.1303C= (p.Pro435=)
c.910C= (p.Pro304=)
4g.186209173C>GCA358950510CYP4V2,KLKB1c.1306C>G (p.Pro436Ala)
n.541C>G
n.6004C>G
c.102C>G
n.396C>G
c.1303C>G (p.Pro435Ala)
c.910C>G (p.Pro304Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186209173C>TCA358950511CYP4V2,KLKB1c.1306C>T (p.Pro436Ser)
n.541C>T
n.6004C>T
c.102C>T
n.396C>T
c.1303C>T (p.Pro435Ser)
c.910C>T (p.Pro304Ser)
4g.186209174C>ACA358950512CYP4V2,KLKB1c.1307C>A (p.Pro436His)
n.542C>A
n.6005C>A
c.103C>A
n.397C>A
c.1304C>A (p.Pro435His)
c.911C>A (p.Pro304His)
4g.186209174C=CA1519891447CYP4V2,KLKB1c.1307C= (p.Pro436=)
n.542C=
n.6005C=
c.103C=
n.397C=
c.1304C= (p.Pro435=)
c.911C= (p.Pro304=)
4g.186209174C>GCA358950513CYP4V2,KLKB1c.1307C>G (p.Pro436Arg)
n.542C>G
n.6005C>G
c.103C>G
n.397C>G
c.1304C>G (p.Pro435Arg)
c.911C>G (p.Pro304Arg)
ClinVar gnomAD v4
4g.186209174C>TCA358950514CYP4V2,KLKB1c.1307C>T (p.Pro436Leu)
n.542C>T
n.6005C>T
c.103C>T
n.397C>T
c.1304C>T (p.Pro435Leu)
c.911C>T (p.Pro304Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.186209175C>ACA442882586CYP4V2,KLKB1c.1308C>A (p.Pro436=)
n.543C>A
n.6006C>A
c.104C>A
n.398C>A
c.1305C>A (p.Pro435=)
c.912C>A (p.Pro304=)
gnomAD v4
4g.186209175C=CA1519891448CYP4V2,KLKB1c.1308C= (p.Pro436=)
n.543C=
n.6006C=
c.104C=
n.398C=
c.1305C= (p.Pro435=)
c.912C= (p.Pro304=)
4g.186209175C>GCA3162823CYP4V2,KLKB1c.1308C>G (p.Pro436=)
n.543C>G
n.6006C>G
c.104C>G
n.398C>G
c.1305C>G (p.Pro435=)
c.912C>G (p.Pro304=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209175C>TCA3162822CYP4V2,KLKB1c.1308C>T (p.Pro436=)
n.543C>T
n.6006C>T
c.104C>T
n.398C>T
c.1305C>T (p.Pro435=)
c.912C>T (p.Pro304=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.186209176delCA2764868835CYP4V2,KLKB1c.1309del (p.Glu437ArgfsTer?)
n.544del
n.6007del
c.105del
n.399del
c.1306del (p.Glu436ArgfsTer?)
c.913del (p.Glu305ArgfsTer?)
4g.186209176G>ACA3162824CYP4V2,KLKB1c.1309G>A (p.Glu437Lys)
n.544G>A
n.6007G>A
c.105G>A
n.399G>A
c.1306G>A (p.Glu436Lys)
c.913G>A (p.Glu305Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209176G>CCA358950515CYP4V2,KLKB1c.1309G>C (p.Glu437Gln)
n.544G>C
n.6007G>C
c.105G>C
n.399G>C
c.1306G>C (p.Glu436Gln)
c.913G>C (p.Glu305Gln)
4g.186209176G=CA1519891449CYP4V2,KLKB1c.1309G= (p.Glu437=)
n.544G=
n.6007G=
c.105G=
n.399G=
c.1306G= (p.Glu436=)
c.913G= (p.Glu305=)
4g.186209176G>TCA358950516CYP4V2,KLKB1c.1309G>T (p.Glu437Ter)
n.544G>T
n.6007G>T
c.105G>T
n.399G>T
c.1306G>T (p.Glu436Ter)
c.913G>T (p.Glu305Ter)
4g.186209177A>CCA358950517CYP4V2,KLKB1c.1310A>C (p.Glu437Ala)
n.545A>C
n.6008A>C
c.106A>C
n.400A>C
c.1307A>C (p.Glu436Ala)
c.914A>C (p.Glu305Ala)
4g.186209177A>GCA358950518CYP4V2,KLKB1c.1310A>G (p.Glu437Gly)
n.545A>G
n.6008A>G
c.106A>G
n.400A>G
c.1307A>G (p.Glu436Gly)
c.914A>G (p.Glu305Gly)
4g.186209177A>TCA358950519CYP4V2,KLKB1c.1310A>T (p.Glu437Val)
n.545A>T
n.6008A>T
c.106A>T
n.400A>T
c.1307A>T (p.Glu436Val)
c.914A>T (p.Glu305Val)
4g.186209178G>ACA442882598CYP4V2,KLKB1c.1311G>A (p.Glu437=)
n.546G>A
n.6009G>A
c.107G>A
n.401G>A
c.1308G>A (p.Glu436=)
c.915G>A (p.Glu305=)
gnomAD v4
4g.186209178G>CCA358950521CYP4V2,KLKB1c.1311G>C (p.Glu437Asp)
n.546G>C
n.6009G>C
c.107G>C
n.401G>C
c.1308G>C (p.Glu436Asp)
c.915G>C (p.Glu305Asp)
4g.186209178G>TCA358950520CYP4V2,KLKB1c.1311G>T (p.Glu437Asp)
n.546G>T
n.6009G>T
c.107G>T
n.401G>T
c.1308G>T (p.Glu436Asp)
c.915G>T (p.Glu305Asp)
4g.186209179G>ACA3162825CYP4V2,KLKB1c.1312G>A (p.Glu438Lys)
n.547G>A
n.6010G>A
c.108G>A
n.402G>A
c.1309G>A (p.Glu437Lys)
c.916G>A (p.Glu306Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209179G>CCA358950522CYP4V2,KLKB1c.1312G>C (p.Glu438Gln)
n.547G>C
n.6010G>C
c.108G>C
n.402G>C
c.1309G>C (p.Glu437Gln)
c.916G>C (p.Glu306Gln)
4g.186209179G=CA1519891450CYP4V2,KLKB1c.1312G= (p.Glu438=)
n.547G=
n.6010G=
c.108G=
n.402G=
c.1309G= (p.Glu437=)
c.916G= (p.Glu306=)
4g.186209179G>TCA358950523CYP4V2,KLKB1c.1312G>T (p.Glu438Ter)
n.547G>T
n.6010G>T
c.108G>T
n.402G>T
c.1309G>T (p.Glu437Ter)
c.916G>T (p.Glu306Ter)
4g.186209180A>CCA358950524CYP4V2,KLKB1c.1313A>C (p.Glu438Ala)
n.548A>C
n.6011A>C
c.109A>C
n.403A>C
c.1310A>C (p.Glu437Ala)
c.917A>C (p.Glu306Ala)
4g.186209180A>GCA358950525CYP4V2,KLKB1c.1313A>G (p.Glu438Gly)
n.548A>G
n.6011A>G
c.109A>G
n.403A>G
c.1310A>G (p.Glu437Gly)
c.917A>G (p.Glu306Gly)
4g.186209180A>TCA358950526CYP4V2,KLKB1c.1313A>T (p.Glu438Val)
n.548A>T
n.6011A>T
c.109A>T
n.403A>T
c.1310A>T (p.Glu437Val)
c.917A>T (p.Glu306Val)
4g.186209181G>ACA3162826CYP4V2,KLKB1c.1314G>A (p.Glu438=)
n.549G>A
n.6012G>A
c.110G>A
n.404G>A
c.1311G>A (p.Glu437=)
c.918G>A (p.Glu306=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209181G>CCA358950528CYP4V2,KLKB1c.1314G>C (p.Glu438Asp)
n.549G>C
n.6012G>C
c.110G>C
n.404G>C
c.1311G>C (p.Glu437Asp)
c.918G>C (p.Glu306Asp)
4g.186209181G=CA1519891451CYP4V2,KLKB1c.1314G= (p.Glu438=)
n.549G=
n.6012G=
c.110G=
n.404G=
c.1311G= (p.Glu437=)
c.918G= (p.Glu306=)
4g.186209181G>TCA358950527CYP4V2,KLKB1c.1314G>T (p.Glu438Asp)
n.549G>T
n.6012G>T
c.110G>T
n.404G>T
c.1311G>T (p.Glu437Asp)
c.918G>T (p.Glu306Asp)
4g.186209182T>ACA358950529CYP4V2,KLKB1c.1315T>A (p.Phe439Ile)
n.550T>A
n.6013T>A
c.111T>A
n.405T>A
c.1312T>A (p.Phe438Ile)
c.919T>A (p.Phe307Ile)
4g.186209182T>CCA358950530CYP4V2,KLKB1c.1315T>C (p.Phe439Leu)
n.550T>C
n.6013T>C
c.111T>C
n.405T>C
c.1312T>C (p.Phe438Leu)
c.919T>C (p.Phe307Leu)
4g.186209182T>GCA358950531CYP4V2,KLKB1c.1315T>G (p.Phe439Val)
n.550T>G
n.6013T>G
c.111T>G
n.405T>G
c.1312T>G (p.Phe438Val)
c.919T>G (p.Phe307Val)
dbSNP gnomAD v2 gnomAD v4
4g.186209182T=CA1519891452CYP4V2,KLKB1c.1315T= (p.Phe439=)
n.550T=
n.6013T=
c.111T=
n.405T=
c.1312T= (p.Phe438=)
c.919T= (p.Phe307=)
4g.186209183T>ACA3162827CYP4V2,KLKB1c.1316T>A (p.Phe439Tyr)
n.551T>A
n.6014T>A
c.112T>A
n.406T>A
c.1313T>A (p.Phe438Tyr)
c.920T>A (p.Phe307Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.186209183T>CCA358950532CYP4V2,KLKB1c.1316T>C (p.Phe439Ser)
n.551T>C
n.6014T>C
c.112T>C
n.406T>C
c.1313T>C (p.Phe438Ser)
c.920T>C (p.Phe307Ser)
4g.186209183T>GCA358950533CYP4V2,KLKB1c.1316T>G (p.Phe439Cys)
n.551T>G
n.6014T>G
c.112T>G
n.406T>G
c.1313T>G (p.Phe438Cys)
c.920T>G (p.Phe307Cys)
4g.186209183T=CA1519891453CYP4V2,KLKB1c.1316T= (p.Phe439=)
n.551T=
n.6014T=
c.112T=
n.406T=
c.1313T= (p.Phe438=)
c.920T= (p.Phe307=)
4g.186209184C>ACA358950534CYP4V2,KLKB1c.1317C>A (p.Phe439Leu)
n.552C>A
n.6015C>A
c.113C>A
n.407C>A
c.1314C>A (p.Phe438Leu)
c.921C>A (p.Phe307Leu)
4g.186209184C=CA1519891454CYP4V2,KLKB1c.1317C= (p.Phe439=)
n.552C=
n.6015C=
c.113C=
n.407C=
c.1314C= (p.Phe438=)
c.921C= (p.Phe307=)
4g.186209184C>GCA358950535CYP4V2,KLKB1c.1317C>G (p.Phe439Leu)
n.552C>G
n.6015C>G
c.113C>G
n.407C>G
c.1314C>G (p.Phe438Leu)
c.921C>G (p.Phe307Leu)
4g.186209184C>TCA442882625CYP4V2,KLKB1c.1317C>T (p.Phe439=)
n.552C>T
n.6015C>T
c.113C>T
n.407C>T
c.1314C>T (p.Phe438=)
c.921C>T (p.Phe307=)
dbSNP
4g.186209185C>ACA358950536CYP4V2,KLKB1c.1318C>A (p.Gln440Lys)
n.553C>A
n.6016C>A
c.114C>A
n.408C>A
c.1315C>A (p.Gln439Lys)
c.922C>A (p.Gln308Lys)
4g.186209185C=CA1519891455CYP4V2,KLKB1c.1318C= (p.Gln440=)
n.553C=
n.6016C=
c.114C=
n.408C=
c.1315C= (p.Gln439=)
c.922C= (p.Gln308=)
4g.186209185C>GCA358950537CYP4V2,KLKB1c.1318C>G (p.Gln440Glu)
n.553C>G
n.6016C>G
c.114C>G
n.408C>G
c.1315C>G (p.Gln439Glu)
c.922C>G (p.Gln308Glu)
4g.186209185C>TCA358950538CYP4V2,KLKB1c.1318C>T (p.Gln440Ter)
n.553C>T
n.6016C>T
c.114C>T
n.408C>T
c.1315C>T (p.Gln439Ter)
c.922C>T (p.Gln308Ter)
ClinVar dbSNP
4g.186209186A>CCA358950541CYP4V2,KLKB1c.1319A>C (p.Gln440Pro)
n.554A>C
n.6017A>C
c.115A>C
n.409A>C
c.1316A>C (p.Gln439Pro)
c.923A>C (p.Gln308Pro)
4g.186209186A>GCA358950540CYP4V2,KLKB1c.1319A>G (p.Gln440Arg)
n.554A>G
n.6017A>G
c.115A>G
n.409A>G
c.1316A>G (p.Gln439Arg)
c.923A>G (p.Gln308Arg)
4g.186209186A>TCA358950539CYP4V2,KLKB1c.1319A>T (p.Gln440Leu)
n.554A>T
n.6017A>T
c.115A>T
n.409A>T
c.1316A>T (p.Gln439Leu)
c.923A>T (p.Gln308Leu)
gnomAD v4
4g.186209187G>ACA442882636CYP4V2,KLKB1c.1320G>A (p.Gln440=)
n.555G>A
n.6018G>A
c.116G>A
n.410G>A
c.1317G>A (p.Gln439=)
c.924G>A (p.Gln308=)
4g.186209187G>CCA358950542CYP4V2,KLKB1c.1320G>C (p.Gln440His)
n.555G>C
n.6018G>C
c.116G>C
n.410G>C
c.1317G>C (p.Gln439His)
c.924G>C (p.Gln308His)
4g.186209187G=CA1519891456CYP4V2,KLKB1c.1320G= (p.Gln440=)
n.555G=
n.6018G=
c.116G=
n.410G=
c.1317G= (p.Gln439=)
c.924G= (p.Gln308=)
4g.186209187G>TCA358950543CYP4V2,KLKB1c.1320G>T (p.Gln440His)
n.555G>T
n.6018G>T
c.116G>T
n.410G>T
c.1317G>T (p.Gln439His)
c.924G>T (p.Gln308His)
dbSNP gnomAD v2 gnomAD v4
4g.186209188C>ACA358950544CYP4V2,KLKB1c.1321C>A (p.Pro441Thr)
n.556C>A
n.6019C>A
c.117C>A
n.411C>A
c.1318C>A (p.Pro440Thr)
c.925C>A (p.Pro309Thr)
gnomAD v4
4g.186209188C>GCA358950545CYP4V2,KLKB1c.1321C>G (p.Pro441Ala)
n.556C>G
n.6019C>G
c.117C>G
n.411C>G
c.1318C>G (p.Pro440Ala)
c.925C>G (p.Pro309Ala)
4g.186209188C>TCA358950546CYP4V2,KLKB1c.1321C>T (p.Pro441Ser)
n.556C>T
n.6019C>T
c.117C>T
n.411C>T
c.1318C>T (p.Pro440Ser)
c.925C>T (p.Pro309Ser)
gnomAD v4
4g.186209189C>ACA358950547CYP4V2,KLKB1c.1322C>A (p.Pro441His)
n.557C>A
n.6020C>A
c.118C>A
n.412C>A
c.1319C>A (p.Pro440His)
c.926C>A (p.Pro309His)
4g.186209189C>GCA358950548CYP4V2,KLKB1c.1322C>G (p.Pro441Arg)
n.557C>G
n.6020C>G
c.118C>G
n.412C>G
c.1319C>G (p.Pro440Arg)
c.926C>G (p.Pro309Arg)
4g.186209189C>TCA358950549CYP4V2,KLKB1c.1322C>T (p.Pro441Leu)
n.557C>T
n.6020C>T
c.118C>T
n.412C>T
c.1319C>T (p.Pro440Leu)
c.926C>T (p.Pro309Leu)
4g.186209190T>ACA442882645CYP4V2,KLKB1c.1323T>A (p.Pro441=)
n.558T>A
n.6021T>A
c.119T>A
n.413T>A
c.1320T>A (p.Pro440=)
c.927T>A (p.Pro309=)
4g.186209190T>CCA442882649CYP4V2,KLKB1c.1323T>C (p.Pro441=)
n.558T>C
n.6021T>C
c.119T>C
n.413T>C
c.1320T>C (p.Pro440=)
c.927T>C (p.Pro309=)
4g.186209190T>GCA442882647CYP4V2,KLKB1c.1323T>G (p.Pro441=)
n.558T>G
n.6021T>G
c.119T>G
n.413T>G
c.1320T>G (p.Pro440=)
c.927T>G (p.Pro309=)
4g.186209191G>ACA3162828CYP4V2,KLKB1c.1324G>A (p.Glu442Lys)
n.559G>A
n.6022G>A
c.120G>A
n.414G>A
c.1321G>A (p.Glu441Lys)
c.928G>A (p.Glu310Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209191G>CCA358950550CYP4V2,KLKB1c.1324G>C (p.Glu442Gln)
n.559G>C
n.6022G>C
c.120G>C
n.414G>C
c.1321G>C (p.Glu441Gln)
c.928G>C (p.Glu310Gln)
4g.186209191G=CA1519891457CYP4V2,KLKB1c.1324G= (p.Glu442=)
n.559G=
n.6022G=
c.120G=
n.414G=
c.1321G= (p.Glu441=)
c.928G= (p.Glu310=)
4g.186209191G>TCA358950551CYP4V2,KLKB1c.1324G>T (p.Glu442Ter)
n.559G>T
n.6022G>T
c.120G>T
n.414G>T
c.1321G>T (p.Glu441Ter)
c.928G>T (p.Glu310Ter)
4g.186209192A>CCA358950552CYP4V2,KLKB1c.1325A>C (p.Glu442Ala)
n.560A>C
n.6023A>C
c.121A>C
n.415A>C
c.1322A>C (p.Glu441Ala)
c.929A>C (p.Glu310Ala)
4g.186209192A>GCA358950553CYP4V2,KLKB1c.1325A>G (p.Glu442Gly)
n.560A>G
n.6023A>G
c.121A>G
n.415A>G
c.1322A>G (p.Glu441Gly)
c.929A>G (p.Glu310Gly)
4g.186209192A>TCA358950554CYP4V2,KLKB1c.1325A>T (p.Glu442Val)
n.560A>T
n.6023A>T
c.121A>T
n.415A>T
c.1322A>T (p.Glu441Val)
c.929A>T (p.Glu310Val)
4g.186209193G>ACA442882672CYP4V2,KLKB1c.1326G>A (p.Glu442=)
n.561G>A
n.6024G>A
c.122G>A
n.416G>A
c.1323G>A (p.Glu441=)
c.930G>A (p.Glu310=)
4g.186209193G>CCA358950556CYP4V2,KLKB1c.1326G>C (p.Glu442Asp)
n.561G>C
n.6024G>C
c.122G>C
n.416G>C
c.1323G>C (p.Glu441Asp)
c.930G>C (p.Glu310Asp)
4g.186209193G>TCA358950555CYP4V2,KLKB1c.1326G>T (p.Glu442Asp)
n.561G>T
n.6024G>T
c.122G>T
n.416G>T
c.1323G>T (p.Glu441Asp)
c.930G>T (p.Glu310Asp)
4g.186209194C>ACA442882677CYP4V2,KLKB1c.1327C>A (p.Arg443=)
n.562C>A
n.6025C>A
c.123C>A
n.417C>A
c.1324C>A (p.Arg442=)
c.931C>A (p.Arg311=)
4g.186209194C=CA1519891458CYP4V2,KLKB1c.1327C= (p.Arg443=)
n.562C=
n.6025C=
c.123C=
n.417C=
c.1324C= (p.Arg442=)
c.931C= (p.Arg311=)
4g.186209194C>GCA358950557CYP4V2,KLKB1c.1327C>G (p.Arg443Gly)
n.562C>G
n.6025C>G
c.123C>G
n.417C>G
c.1324C>G (p.Arg442Gly)
c.931C>G (p.Arg311Gly)
4g.186209194C>TCA3162829CYP4V2,KLKB1c.1327C>T (p.Arg443Trp)
n.562C>T
n.6025C>T
c.123C>T
n.417C>T
c.1324C>T (p.Arg442Trp)
c.931C>T (p.Arg311Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.186209195G>ACA3162830CYP4V2,KLKB1c.1328G>A (p.Arg443Gln)
n.563G>A
n.6026G>A
c.124G>A
n.418G>A
c.1325G>A (p.Arg442Gln)
c.932G>A (p.Arg311Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209195G>CCA358950558CYP4V2,KLKB1c.1328G>C (p.Arg443Pro)
n.563G>C
n.6026G>C
c.124G>C
n.418G>C
c.1325G>C (p.Arg442Pro)
c.932G>C (p.Arg311Pro)
gnomAD v4
4g.186209195G=CA1519891459CYP4V2,KLKB1c.1328G= (p.Arg443=)
n.563G=
n.6026G=
c.124G=
n.418G=
c.1325G= (p.Arg442=)
c.932G= (p.Arg311=)
4g.186209195G>TCA358950559CYP4V2,KLKB1c.1328G>T (p.Arg443Leu)
n.563G>T
n.6026G>T
c.124G>T
n.418G>T
c.1325G>T (p.Arg442Leu)
c.932G>T (p.Arg311Leu)
4g.186209196G>ACA3162831CYP4V2,KLKB1c.1329G>A (p.Arg443=)
n.564G>A
n.6027G>A
c.125G>A
n.419G>A
c.1326G>A (p.Arg442=)
c.933G>A (p.Arg311=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209196G>CCA442882686CYP4V2,KLKB1c.1329G>C (p.Arg443=)
n.564G>C
n.6027G>C
c.125G>C
n.419G>C
c.1326G>C (p.Arg442=)
c.933G>C (p.Arg311=)
dbSNP gnomAD v2 gnomAD v4
4g.186209196G=CA1519891460CYP4V2,KLKB1c.1329G= (p.Arg443=)
n.564G=
n.6027G=
c.125G=
n.419G=
c.1326G= (p.Arg442=)
c.933G= (p.Arg311=)
4g.186209196G>TCA442882691CYP4V2,KLKB1c.1329G>T (p.Arg443=)
n.564G>T
n.6027G>T
c.125G>T
n.419G>T
c.1326G>T (p.Arg442=)
c.933G>T (p.Arg311=)
4g.186209197T>ACA358950560CYP4V2,KLKB1c.1330T>A (p.Phe444Ile)
n.565T>A
n.6028T>A
c.126T>A
n.420T>A
c.1327T>A (p.Phe443Ile)
c.934T>A (p.Phe312Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.186209197T>CCA358950561CYP4V2,KLKB1c.1330T>C (p.Phe444Leu)
n.565T>C
n.6028T>C
c.126T>C
n.420T>C
c.1327T>C (p.Phe443Leu)
c.934T>C (p.Phe312Leu)
4g.186209197T>GCA358950562CYP4V2,KLKB1c.1330T>G (p.Phe444Val)
n.565T>G
n.6028T>G
c.126T>G
n.420T>G
c.1327T>G (p.Phe443Val)
c.934T>G (p.Phe312Val)
4g.186209197T=CA1519891461CYP4V2,KLKB1c.1330T= (p.Phe444=)
n.565T=
n.6028T=
c.126T=
n.420T=
c.1327T= (p.Phe443=)
c.934T= (p.Phe312=)
4g.186209198T>ACA358950563CYP4V2,KLKB1c.1331T>A (p.Phe444Tyr)
n.566T>A
n.6029T>A
c.127T>A
n.421T>A
c.1328T>A (p.Phe443Tyr)
c.935T>A (p.Phe312Tyr)
4g.186209198T>CCA358950564CYP4V2,KLKB1c.1331T>C (p.Phe444Ser)
n.566T>C
n.6029T>C
c.127T>C
n.421T>C
c.1328T>C (p.Phe443Ser)
c.935T>C (p.Phe312Ser)
gnomAD v4
4g.186209198T>GCA358950565CYP4V2,KLKB1c.1331T>G (p.Phe444Cys)
n.566T>G
n.6029T>G
c.127T>G
n.421T>G
c.1328T>G (p.Phe443Cys)
c.935T>G (p.Phe312Cys)
4g.186209199C>ACA358950567CYP4V2,KLKB1c.1332C>A (p.Phe444Leu)
n.567C>A
n.6030C>A
c.128C>A
n.422C>A
c.1329C>A (p.Phe443Leu)
c.936C>A (p.Phe312Leu)
4g.186209199C=CA1519891462CYP4V2,KLKB1c.1332C= (p.Phe444=)
n.567C=
n.6030C=
c.128C=
n.422C=
c.1329C= (p.Phe443=)
c.936C= (p.Phe312=)
4g.186209199C>GCA358950566CYP4V2,KLKB1c.1332C>G (p.Phe444Leu)
n.567C>G
n.6030C>G
c.128C>G
n.422C>G
c.1329C>G (p.Phe443Leu)
c.936C>G (p.Phe312Leu)
4g.186209199C>TCA442882704CYP4V2,KLKB1c.1332C>T (p.Phe444=)
n.567C>T
n.6030C>T
c.128C>T
n.422C>T
c.1329C>T (p.Phe443=)
c.936C>T (p.Phe312=)
dbSNP COSMIC
4g.186209200T>ACA358950568CYP4V2,KLKB1c.1333T>A (p.Phe445Ile)
n.568T>A
n.6031T>A
c.129T>A
n.423T>A
c.1330T>A (p.Phe444Ile)
c.937T>A (p.Phe313Ile)
COSMIC
4g.186209200T>CCA358950569CYP4V2,KLKB1c.1333T>C (p.Phe445Leu)
n.568T>C
n.6031T>C
c.129T>C
n.423T>C
c.1330T>C (p.Phe444Leu)
c.937T>C (p.Phe313Leu)
dbSNP
4g.186209200T>GCA358950570CYP4V2,KLKB1c.1333T>G (p.Phe445Val)
n.568T>G
n.6031T>G
c.129T>G
n.423T>G
c.1330T>G (p.Phe444Val)
c.937T>G (p.Phe313Val)
4g.186209200T=CA1519891463CYP4V2,KLKB1c.1333T= (p.Phe445=)
n.568T=
n.6031T=
c.129T=
n.423T=
c.1330T= (p.Phe444=)
c.937T= (p.Phe313=)
4g.186209201delCA442882710CYP4V2,KLKB1c.1334del (p.Phe445SerfsTer24)
n.569del
n.6032del
c.130del
n.424del
c.1331del (p.Phe444SerfsTer24)
c.938del (p.Phe313SerfsTer24)
COSMIC
4g.186209201T>ACA358950571CYP4V2,KLKB1c.1334T>A (p.Phe445Tyr)
n.569T>A
n.6032T>A
c.130T>A
n.424T>A
c.1331T>A (p.Phe444Tyr)
c.938T>A (p.Phe313Tyr)
4g.186209201T>CCA358950572CYP4V2,KLKB1c.1334T>C (p.Phe445Ser)
n.569T>C
n.6032T>C
c.130T>C
n.424T>C
c.1331T>C (p.Phe444Ser)
c.938T>C (p.Phe313Ser)
dbSNP
4g.186209201T>GCA358950573CYP4V2,KLKB1c.1334T>G (p.Phe445Cys)
n.569T>G
n.6032T>G
c.130T>G
n.424T>G
c.1331T>G (p.Phe444Cys)
c.938T>G (p.Phe313Cys)
4g.186209201T=CA1519891465CYP4V2,KLKB1c.1334T= (p.Phe445=)
n.569T=
n.6032T=
c.130T=
n.424T=
c.1331T= (p.Phe444=)
c.938T= (p.Phe313=)
4g.186209201_186209202delinsTCCA1519891464CYP4V2,KLKB1c.1334_1335delinsTC (p.Phe445=)
n.569_570delinsTC
n.6032_6033delinsTC
c.130_131delinsTC
n.424_425delinsTC
c.1331_1332delinsTC (p.Phe444=)
c.938_939delinsTC (p.Phe313=)
4g.186209202C>ACA358950574CYP4V2,KLKB1c.1335C>A (p.Phe445Leu)
n.570C>A
n.6033C>A
c.131C>A
n.425C>A
c.1332C>A (p.Phe444Leu)
c.939C>A (p.Phe313Leu)
4g.186209202C>GCA358950575CYP4V2,KLKB1c.1335C>G (p.Phe445Leu)
n.570C>G
n.6033C>G
c.131C>G
n.425C>G
c.1332C>G (p.Phe444Leu)
c.939C>G (p.Phe313Leu)
4g.186209202C>TCA442882718CYP4V2,KLKB1c.1335C>T (p.Phe445=)
n.570C>T
n.6033C>T
c.131C>T
n.425C>T
c.1332C>T (p.Phe444=)
c.939C>T (p.Phe313=)
COSMIC
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.186209203C>ACA358950576CYP4V2,KLKB1c.1336C>A (p.Pro446Thr)
n.571C>A
n.6034C>A
c.132C>A
n.426C>A
c.1333C>A (p.Pro445Thr)
c.940C>A (p.Pro314Thr)
4g.186209203C>GCA358950577CYP4V2,KLKB1c.1336C>G (p.Pro446Ala)
n.571C>G
n.6034C>G
c.132C>G
n.426C>G
c.1333C>G (p.Pro445Ala)
c.940C>G (p.Pro314Ala)
4g.186209203C>TCA358950578CYP4V2,KLKB1c.1336C>T (p.Pro446Ser)
n.571C>T
n.6034C>T
c.132C>T
n.426C>T
c.1333C>T (p.Pro445Ser)
c.940C>T (p.Pro314Ser)
gnomAD v4 COSMIC
4g.186209204C>ACA358950580CYP4V2,KLKB1c.1337C>A (p.Pro446His)
n.572C>A
n.6035C>A
c.133C>A
n.427C>A
c.1334C>A (p.Pro445His)
c.941C>A (p.Pro314His)
4g.186209204C=CA1519891467CYP4V2,KLKB1c.1337C= (p.Pro446=)
n.572C=
n.6035C=
c.133C=
n.427C=
c.1334C= (p.Pro445=)
c.941C= (p.Pro314=)
4g.186209204C>GCA358950581CYP4V2,KLKB1c.1337C>G (p.Pro446Arg)
n.572C>G
n.6035C>G
c.133C>G
n.427C>G
c.1334C>G (p.Pro445Arg)
c.941C>G (p.Pro314Arg)
gnomAD v4
4g.186209204C>TCA358950579CYP4V2,KLKB1c.1337C>T (p.Pro446Leu)
n.572C>T
n.6035C>T
c.133C>T
n.427C>T
c.1334C>T (p.Pro445Leu)
c.941C>T (p.Pro314Leu)
dbSNP 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
4g.186209218G=CA1519891475CYP4V2,KLKB1c.1351G= (p.Gly451=)
n.586G=
n.6049G=
c.147G=
n.441G=
c.1348G= (p.Gly450=)
c.955G= (p.Gly319=)
4g.186209218G>TCA358950610CYP4V2,KLKB1c.1351G>T (p.Gly451Trp)
n.586G>T
n.6049G>T
c.147G>T
n.441G>T
c.1348G>T (p.Gly450Trp)
c.955G>T (p.Gly319Trp)
4g.186209219G>ACA358950612CYP4V2,KLKB1c.1352G>A (p.Gly451Glu)
n.587G>A
n.6050G>A
c.148G>A
n.442G>A
c.1349G>A (p.Gly450Glu)
c.956G>A (p.Gly319Glu)
4g.186209219G>CCA358950613CYP4V2,KLKB1c.1352G>C (p.Gly451Ala)
n.587G>C
n.6050G>C
c.148G>C
n.442G>C
c.1349G>C (p.Gly450Ala)
c.956G>C (p.Gly319Ala)
4g.186209219G>TCA358950614CYP4V2,KLKB1c.1352G>T (p.Gly451Val)
n.587G>T
n.6050G>T
c.148G>T
n.442G>T
c.1349G>T (p.Gly450Val)
c.956G>T (p.Gly319Val)
4g.186209220G>ACA112135201CYP4V2,KLKB1c.1353G>A (p.Gly451=)
n.588G>A
n.6051G>A
c.149G>A
n.443G>A
c.1350G>A (p.Gly450=)
c.957G>A (p.Gly319=)
dbSNP gnomAD v4
4g.186209220G>CCA442882794CYP4V2,KLKB1c.1353G>C (p.Gly451=)
n.588G>C
n.6051G>C
c.149G>C
n.443G>C
c.1350G>C (p.Gly450=)
c.957G>C (p.Gly319=)
4g.186209220G=CA1519891476CYP4V2,KLKB1c.1353G= (p.Gly451=)
n.588G=
n.6051G=
c.149G=
n.443G=
c.1350G= (p.Gly450=)
c.957G= (p.Gly319=)
4g.186209220G>TCA3162838CYP4V2,KLKB1c.1353G>T (p.Gly451=)
n.588G>T
n.6051G>T
c.149G>T
n.443G>T
c.1350G>T (p.Gly450=)
c.957G>T (p.Gly319=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209221C>ACA358950615CYP4V2,KLKB1c.1354C>A (p.Arg452Ser)
n.589C>A
n.6052C>A
c.150C>A
n.444C>A
c.1351C>A (p.Arg451Ser)
c.958C>A (p.Arg320Ser)
4g.186209221C=CA1519891477CYP4V2,KLKB1c.1354C= (p.Arg452=)
n.589C=
n.6052C=
c.150C=
n.444C=
c.1351C= (p.Arg451=)
c.958C= (p.Arg320=)
4g.186209221C>GCA358950616CYP4V2,KLKB1c.1354C>G (p.Arg452Gly)
n.589C>G
n.6052C>G
c.150C>G
n.444C>G
c.1351C>G (p.Arg451Gly)
c.958C>G (p.Arg320Gly)
gnomAD v4
4g.186209221C>TCA3162839CYP4V2,KLKB1c.1354C>T (p.Arg452Cys)
n.589C>T
n.6052C>T
c.150C>T
n.444C>T
c.1351C>T (p.Arg451Cys)
c.958C>T (p.Arg320Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209221_186209222insAAATAAAGGAACAGAAGGAAAAAGGCGAAGCA2764868866CYP4V2,KLKB1c.1354_1355insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (p.Arg452delinsGlnIleLysGluGlnLysGluLysGlyGluGly)
n.589_590insAAATAAAGGAACAGAAGGAAAAAGGCGAAG
n.6052_6053insAAATAAAGGAACAGAAGGAAAAAGGCGAAG
c.150_151insAAATAAAGGAACAGAAGGAAAAAGGCGAAG
n.444_445insAAATAAAGGAACAGAAGGAAAAAGGCGAAG
c.1351_1352insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (p.Arg451delinsGlnIleLysGluGlnLysGluLysGlyGluGly)
c.958_959insAAATAAAGGAACAGAAGGAAAAAGGCGAAG (p.Arg320delinsGlnIleLysGluGlnLysGluLysGlyGluGly)
4g.186209222G>ACA3162840CYP4V2,KLKB1c.1355G>A (p.Arg452His)
n.590G>A
n.6053G>A
c.151G>A
n.445G>A
c.1352G>A (p.Arg451His)
c.959G>A (p.Arg320His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209222G>CCA358950617CYP4V2,KLKB1c.1355G>C (p.Arg452Pro)
n.590G>C
n.6053G>C
c.151G>C
n.445G>C
c.1352G>C (p.Arg451Pro)
c.959G>C (p.Arg320Pro)
4g.186209222G=CA1519891478CYP4V2,KLKB1c.1355G= (p.Arg452=)
n.590G=
n.6053G=
c.151G=
n.445G=
c.1352G= (p.Arg451=)
c.959G= (p.Arg320=)
4g.186209222G>TCA358950618CYP4V2,KLKB1c.1355G>T (p.Arg452Leu)
n.590G>T
n.6053G>T
c.151G>T
n.445G>T
c.1352G>T (p.Arg451Leu)
c.959G>T (p.Arg320Leu)
4g.186209223C>ACA442882807CYP4V2,KLKB1c.1356C>A (p.Arg452=)
n.591C>A
n.6054C>A
c.152C>A
n.446C>A
c.1353C>A (p.Arg451=)
c.960C>A (p.Arg320=)
4g.186209223C>GCA442882811CYP4V2,KLKB1c.1356C>G (p.Arg452=)
n.591C>G
n.6054C>G
c.152C>G
n.446C>G
c.1353C>G (p.Arg451=)
c.960C>G (p.Arg320=)
4g.186209223C>TCA442882809CYP4V2,KLKB1c.1356C>T (p.Arg452=)
n.591C>T
n.6054C>T
c.152C>T
n.446C>T
c.1353C>T (p.Arg451=)
c.960C>T (p.Arg320=)
4g.186209224C>ACA358950619CYP4V2,KLKB1c.1357C>A (p.His453Asn)
n.592C>A
n.6055C>A
c.153C>A
n.447C>A
c.1354C>A (p.His452Asn)
c.961C>A (p.His321Asn)
4g.186209224C=CA1519891479CYP4V2,KLKB1c.1357C= (p.His453=)
n.592C=
n.6055C=
c.153C=
n.447C=
c.1354C= (p.His452=)
c.961C= (p.His321=)
4g.186209224C>GCA358950620CYP4V2,KLKB1c.1357C>G (p.His453Asp)
n.592C>G
n.6055C>G
c.153C>G
n.447C>G
c.1354C>G (p.His452Asp)
c.961C>G (p.His321Asp)
4g.186209224C>TCA3162841CYP4V2,KLKB1c.1357C>T (p.His453Tyr)
n.592C>T
n.6055C>T
c.153C>T
n.447C>T
c.1354C>T (p.His452Tyr)
c.961C>T (p.His321Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209225A>CCA358950621CYP4V2,KLKB1c.1358A>C (p.His453Pro)
n.593A>C
n.6056A>C
c.154A>C
n.448A>C
c.1355A>C (p.His452Pro)
c.962A>C (p.His321Pro)
4g.186209225A>GCA358950622CYP4V2,KLKB1c.1358A>G (p.His453Arg)
n.593A>G
n.6056A>G
c.154A>G
n.448A>G
c.1355A>G (p.His452Arg)
c.962A>G (p.His321Arg)
4g.186209225A>TCA358950623CYP4V2,KLKB1c.1358A>T (p.His453Leu)
n.593A>T
n.6056A>T
c.154A>T
n.448A>T
c.1355A>T (p.His452Leu)
c.962A>T (p.His321Leu)
4g.186209226T>ACA358950624CYP4V2,KLKB1c.1359T>A (p.His453Gln)
n.594T>A
n.6057T>A
c.155T>A
n.449T>A
c.1356T>A (p.His452Gln)
c.963T>A (p.His321Gln)
4g.186209226T>CCA442882823CYP4V2,KLKB1c.1359T>C (p.His453=)
n.594T>C
n.6057T>C
c.155T>C
n.449T>C
c.1356T>C (p.His452=)
c.963T>C (p.His321=)
4g.186209226T>GCA358950625CYP4V2,KLKB1c.1359T>G (p.His453Gln)
n.594T>G
n.6057T>G
c.155T>G
n.449T>G
c.1356T>G (p.His452Gln)
c.963T>G (p.His321Gln)

Number of alleles fetched