Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186209260A=CA1519891499CYP4V2,KLKB1c.1393A= (p.Arg465=)
n.628A=
n.6091A=
c.189A=
n.483A=
c.1390A= (p.Arg464=)
c.997A= (p.Arg333=)
4g.186209260A>CCA442882981CYP4V2,KLKB1c.1393A>C (p.Arg465=)
n.628A>C
n.6091A>C
c.189A>C
n.483A>C
c.1390A>C (p.Arg464=)
c.997A>C (p.Arg333=)
4g.186209260A>GCA273326CYP4V2,KLKB1c.1393A>G (p.Arg465Gly)
n.628A>G
n.6091A>G
c.189A>G
n.483A>G
c.1390A>G (p.Arg464Gly)
c.997A>G (p.Arg333Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.186209260A>TCA358950691CYP4V2,KLKB1c.1393A>T (p.Arg465Trp)
n.628A>T
n.6091A>T
c.189A>T
n.483A>T
c.1390A>T (p.Arg464Trp)
c.997A>T (p.Arg333Trp)
4g.186209261G>ACA358950692CYP4V2,KLKB1c.1394G>A (p.Arg465Lys)
n.629G>A
n.6092G>A
c.190G>A
n.484G>A
c.1391G>A (p.Arg464Lys)
c.998G>A (p.Arg333Lys)
4g.186209261G>CCA358950693CYP4V2,KLKB1c.1394G>C (p.Arg465Thr)
n.629G>C
n.6092G>C
c.190G>C
n.484G>C
c.1391G>C (p.Arg464Thr)
c.998G>C (p.Arg333Thr)
4g.186209261G>TCA358950694CYP4V2,KLKB1c.1394G>T (p.Arg465Met)
n.629G>T
n.6092G>T
c.190G>T
n.484G>T
c.1391G>T (p.Arg464Met)
c.998G>T (p.Arg333Met)
4g.186209262G>ACA442882990CYP4V2,KLKB1c.1395G>A (p.Arg465=)
n.630G>A
n.6093G>A
c.191G>A
n.485G>A
c.1392G>A (p.Arg464=)
c.999G>A (p.Arg333=)
4g.186209262G>CCA358950695CYP4V2,KLKB1c.1395G>C (p.Arg465Ser)
n.630G>C
n.6093G>C
c.191G>C
n.485G>C
c.1392G>C (p.Arg464Ser)
c.999G>C (p.Arg333Ser)
4g.186209262G>TCA358950696CYP4V2,KLKB1c.1395G>T (p.Arg465Ser)
n.630G>T
n.6093G>T
c.191G>T
n.485G>T
c.1392G>T (p.Arg464Ser)
c.999G>T (p.Arg333Ser)
4g.186209263A=CA1519891500CYP4V2,KLKB1c.1396A= (p.Asn466=)
n.631A=
n.6094A=
c.192A=
n.486A=
c.1393A= (p.Asn465=)
c.1000A= (p.Asn334=)
4g.186209263A>CCA358950697CYP4V2,KLKB1c.1396A>C (p.Asn466His)
n.631A>C
n.6094A>C
c.192A>C
n.486A>C
c.1393A>C (p.Asn465His)
c.1000A>C (p.Asn334His)
4g.186209263A>GCA276932CYP4V2,KLKB1c.1396A>G (p.Asn466Asp)
n.631A>G
n.6094A>G
c.192A>G
n.486A>G
c.1393A>G (p.Asn465Asp)
c.1000A>G (p.Asn334Asp)
ClinVar dbSNP
4g.186209263A>TCA358950698CYP4V2,KLKB1c.1396A>T (p.Asn466Tyr)
n.631A>T
n.6094A>T
c.192A>T
n.486A>T
c.1393A>T (p.Asn465Tyr)
c.1000A>T (p.Asn334Tyr)
4g.186209264A>CCA358950699CYP4V2,KLKB1c.1397A>C (p.Asn466Thr)
n.632A>C
n.6095A>C
c.193A>C
n.487A>C
c.1394A>C (p.Asn465Thr)
c.1001A>C (p.Asn334Thr)
4g.186209264A>GCA358950700CYP4V2,KLKB1c.1397A>G (p.Asn466Ser)
n.632A>G
n.6095A>G
c.193A>G
n.487A>G
c.1394A>G (p.Asn465Ser)
c.1001A>G (p.Asn334Ser)
gnomAD v4
4g.186209264A>TCA358950701CYP4V2,KLKB1c.1397A>T (p.Asn466Ile)
n.632A>T
n.6095A>T
c.193A>T
n.487A>T
c.1394A>T (p.Asn465Ile)
c.1001A>T (p.Asn334Ile)
4g.186209265C>ACA358950702CYP4V2,KLKB1c.1398C>A (p.Asn466Lys)
n.633C>A
n.6096C>A
c.194C>A
n.488C>A
c.1395C>A (p.Asn465Lys)
c.1002C>A (p.Asn334Lys)
dbSNP
4g.186209265C=CA1519891501CYP4V2,KLKB1c.1398C= (p.Asn466=)
n.633C=
n.6096C=
c.194C=
n.488C=
c.1395C= (p.Asn465=)
c.1002C= (p.Asn334=)
4g.186209265C>GCA358950703CYP4V2,KLKB1c.1398C>G (p.Asn466Lys)
n.633C>G
n.6096C>G
c.194C>G
n.488C>G
c.1395C>G (p.Asn465Lys)
c.1002C>G (p.Asn334Lys)
4g.186209265C>TCA442883006CYP4V2,KLKB1c.1398C>T (p.Asn466=)
n.633C>T
n.6096C>T
c.194C>T
n.488C>T
c.1395C>T (p.Asn465=)
c.1002C>T (p.Asn334=)
4g.186209266T>ACA358950704CYP4V2,KLKB1c.1399T>A (p.Cys467Ser)
n.634T>A
n.6097T>A
c.195T>A
n.489T>A
c.1396T>A (p.Cys466Ser)
c.1003T>A (p.Cys335Ser)
4g.186209266T>CCA358950706CYP4V2,KLKB1c.1399T>C (p.Cys467Arg)
n.634T>C
n.6097T>C
c.195T>C
n.489T>C
c.1396T>C (p.Cys466Arg)
c.1003T>C (p.Cys335Arg)
gnomAD v4
4g.186209266T>GCA358950705CYP4V2,KLKB1c.1399T>G (p.Cys467Gly)
n.634T>G
n.6097T>G
c.195T>G
n.489T>G
c.1396T>G (p.Cys466Gly)
c.1003T>G (p.Cys335Gly)
4g.186209267G>ACA358950707CYP4V2,KLKB1c.1400G>A (p.Cys467Tyr)
n.635G>A
n.6098G>A
c.196G>A
n.490G>A
c.1397G>A (p.Cys466Tyr)
c.1004G>A (p.Cys335Tyr)
dbSNP gnomAD v3 gnomAD v4
4g.186209267G>CCA358950709CYP4V2,KLKB1c.1400G>C (p.Cys467Ser)
n.635G>C
n.6098G>C
c.196G>C
n.490G>C
c.1397G>C (p.Cys466Ser)
c.1004G>C (p.Cys335Ser)
4g.186209267G=CA1519891502CYP4V2,KLKB1c.1400G= (p.Cys467=)
n.635G=
n.6098G=
c.196G=
n.490G=
c.1397G= (p.Cys466=)
c.1004G= (p.Cys335=)
4g.186209267G>TCA358950708CYP4V2,KLKB1c.1400G>T (p.Cys467Phe)
n.635G>T
n.6098G>T
c.196G>T
n.490G>T
c.1397G>T (p.Cys466Phe)
c.1004G>T (p.Cys335Phe)
4g.186209268T>ACA358950710CYP4V2,KLKB1c.1401T>A (p.Cys467Ter)
n.636T>A
n.6099T>A
c.197T>A
n.491T>A
c.1398T>A (p.Cys466Ter)
c.1005T>A (p.Cys335Ter)
4g.186209268T>CCA442883017CYP4V2,KLKB1c.1401T>C (p.Cys467=)
n.636T>C
n.6099T>C
c.197T>C
n.491T>C
c.1398T>C (p.Cys466=)
c.1005T>C (p.Cys335=)
4g.186209268T>GCA358950711CYP4V2,KLKB1c.1401T>G (p.Cys467Trp)
n.636T>G
n.6099T>G
c.197T>G
n.491T>G
c.1398T>G (p.Cys466Trp)
c.1005T>G (p.Cys335Trp)
4g.186209269A=CA1519891503CYP4V2,KLKB1c.1402A= (p.Ile468=)
n.637A=
n.6100A=
c.198A=
n.492A=
c.1399A= (p.Ile467=)
c.1006A= (p.Ile336=)
4g.186209269A>CCA358950712CYP4V2,KLKB1c.1402A>C (p.Ile468Leu)
n.637A>C
n.6100A>C
c.198A>C
n.492A>C
c.1399A>C (p.Ile467Leu)
c.1006A>C (p.Ile336Leu)
4g.186209269A>GCA112135313CYP4V2,KLKB1c.1402A>G (p.Ile468Val)
n.637A>G
n.6100A>G
c.198A>G
n.492A>G
c.1399A>G (p.Ile467Val)
c.1006A>G (p.Ile336Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.186209269A>TCA358950713CYP4V2,KLKB1c.1402A>T (p.Ile468Leu)
n.637A>T
n.6100A>T
c.198A>T
n.492A>T
c.1399A>T (p.Ile467Leu)
c.1006A>T (p.Ile336Leu)
4g.186209270T>ACA358950714CYP4V2,KLKB1c.1403T>A (p.Ile468Lys)
n.638T>A
n.6101T>A
c.199T>A
n.493T>A
c.1400T>A (p.Ile467Lys)
c.1007T>A (p.Ile336Lys)
4g.186209270T>CCA358950715CYP4V2,KLKB1c.1403T>C (p.Ile468Thr)
n.638T>C
n.6101T>C
c.199T>C
n.493T>C
c.1400T>C (p.Ile467Thr)
c.1007T>C (p.Ile336Thr)
4g.186209270T>GCA358950716CYP4V2,KLKB1c.1403T>G (p.Ile468Arg)
n.638T>G
n.6101T>G
c.199T>G
n.493T>G
c.1400T>G (p.Ile467Arg)
c.1007T>G (p.Ile336Arg)
4g.186209271A=CA1519891504CYP4V2,KLKB1c.1404A= (p.Ile468=)
n.639A=
n.6102A=
c.200A=
n.494A=
c.1401A= (p.Ile467=)
c.1008A= (p.Ile336=)
4g.186209271A>CCA442883028CYP4V2,KLKB1c.1404A>C (p.Ile468=)
n.639A>C
n.6102A>C
c.200A>C
n.494A>C
c.1401A>C (p.Ile467=)
c.1008A>C (p.Ile336=)
4g.186209271A>GCA358950717CYP4V2,KLKB1c.1404A>G (p.Ile468Met)
n.639A>G
n.6102A>G
c.200A>G
n.494A>G
c.1401A>G (p.Ile467Met)
c.1008A>G (p.Ile336Met)
dbSNP gnomAD v4
4g.186209271A>TCA442883033CYP4V2,KLKB1c.1404A>T (p.Ile468=)
n.639A>T
n.6102A>T
c.200A>T
n.494A>T
c.1401A>T (p.Ile467=)
c.1008A>T (p.Ile336=)
4g.186209272G>ACA358950718CYP4V2,KLKB1c.1405G>A (p.Gly469Ser)
n.640G>A
n.6103G>A
c.201G>A
n.495G>A
c.1402G>A (p.Gly468Ser)
c.1009G>A (p.Gly337Ser)
4g.186209272G>CCA358950719CYP4V2,KLKB1c.1405G>C (p.Gly469Arg)
n.640G>C
n.6103G>C
c.201G>C
n.495G>C
c.1402G>C (p.Gly468Arg)
c.1009G>C (p.Gly337Arg)
4g.186209272G>TCA358950720CYP4V2,KLKB1c.1405G>T (p.Gly469Cys)
n.640G>T
n.6103G>T
c.201G>T
n.495G>T
c.1402G>T (p.Gly468Cys)
c.1009G>T (p.Gly337Cys)
COSMIC
4g.186209273G>ACA358950721CYP4V2,KLKB1c.1405+1G>A (n.1405+1G>A)
n.640+1G>A
n.6103+1G>A
c.201+1G>A
n.495+1G>A
c.1402+1G>A (n.1402+1G>A)
c.1009+1G>A (n.1009+1G>A)
dbSNP
4g.186209273G>CCA358950722CYP4V2,KLKB1c.1405+1G>C (n.1405+1G>C)
n.640+1G>C
n.6103+1G>C
c.201+1G>C
n.495+1G>C
c.1402+1G>C (n.1402+1G>C)
c.1009+1G>C (n.1009+1G>C)
4g.186209273G=CA1519891505CYP4V2,KLKB1c.1405+1G= (n.1405+1G=)
n.640+1G=
n.6103+1G=
c.201+1G=
n.495+1G=
c.1402+1G= (n.1402+1G=)
c.1009+1G= (n.1009+1G=)
4g.186209273G>TCA358950723CYP4V2,KLKB1c.1405+1G>T (n.1405+1G>T)
n.640+1G>T
n.6103+1G>T
c.201+1G>T
n.495+1G>T
c.1402+1G>T (n.1402+1G>T)
c.1009+1G>T (n.1009+1G>T)
4g.186209273_186209274insGAATGATGACGGCTTCAGTGCCTTTTAGAACCA2508811508CYP4V2,KLKB1c.1405+1_1405+2insGAATGATGACGGCTTCAGTGCCTTTTAGAAC (n.1405+1_1405+2insGAATGATGACGGCTTCAGTGCCTTTTAGAAC)
n.640+1_640+2insGAATGATGACGGCTTCAGTGCCTTTTAGAAC
n.6103+1_6103+2insGAATGATGACGGCTTCAGTGCCTTTTAGAAC
c.201+1_201+2insGAATGATGACGGCTTCAGTGCCTTTTAGAAC
n.495+1_495+2insGAATGATGACGGCTTCAGTGCCTTTTAGAAC
c.1402+1_1402+2insGAATGATGACGGCTTCAGTGCCTTTTAGAAC (n.1402+1_1402+2insGAATGATGACGGCTTCAGTGCCTTTTAGAAC)
c.1009+1_1009+2insGAATGATGACGGCTTCAGTGCCTTTTAGAAC (n.1009+1_1009+2insGAATGATGACGGCTTCAGTGCCTTTTAGAAC)

Number of alleles fetched