Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.186210481C>A | CA358950762 | CYP4V2,KLKB1 | c.1418C>A (p.Ala473Asp) n.653C>A n.6116C>A c.201+1209C>A n.508C>A c.1415C>A (p.Ala472Asp) c.1022C>A (p.Ala341Asp) | |
4 | g.186210481C>G | CA358950764 | CYP4V2,KLKB1 | c.1418C>G (p.Ala473Gly) n.653C>G n.6116C>G c.201+1209C>G n.508C>G c.1415C>G (p.Ala472Gly) c.1022C>G (p.Ala341Gly) | |
4 | g.186210481C>T | CA358950763 | CYP4V2,KLKB1 | c.1418C>T (p.Ala473Val) n.653C>T n.6116C>T c.201+1209C>T n.508C>T c.1415C>T (p.Ala472Val) c.1022C>T (p.Ala341Val) | |
4 | g.186210482T>A | CA442641156 | CYP4V2,KLKB1 | c.1419T>A (p.Ala473=) n.654T>A n.6117T>A c.201+1210T>A n.509T>A c.1416T>A (p.Ala472=) c.1023T>A (p.Ala341=) | |
4 | g.186210482T>C | CA442641157 | CYP4V2,KLKB1 | c.1419T>C (p.Ala473=) n.654T>C n.6117T>C c.201+1210T>C n.509T>C c.1416T>C (p.Ala472=) c.1023T>C (p.Ala341=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186210482T>G | CA442641158 | CYP4V2,KLKB1 | c.1419T>G (p.Ala473=) n.654T>G n.6117T>G c.201+1210T>G n.509T>G c.1416T>G (p.Ala472=) c.1023T>G (p.Ala341=) | |
4 | g.186210482T= | CA1519892056 | CYP4V2,KLKB1 | c.1419T= (p.Ala473=) n.654T= n.6117T= c.201+1210T= n.509T= c.1416T= (p.Ala472=) c.1023T= (p.Ala341=) | |
4 | g.186210483G>A | CA358950765 | CYP4V2,KLKB1 | c.1420G>A (p.Val474Met) n.655G>A n.6118G>A c.201+1211G>A n.510G>A c.1417G>A (p.Val473Met) c.1024G>A (p.Val342Met) | COSMIC |
4 | g.186210483G>C | CA358950766 | CYP4V2,KLKB1 | c.1420G>C (p.Val474Leu) n.655G>C n.6118G>C c.201+1211G>C n.510G>C c.1417G>C (p.Val473Leu) c.1024G>C (p.Val342Leu) | |
4 | g.186210483G>T | CA358950767 | CYP4V2,KLKB1 | c.1420G>T (p.Val474Leu) n.655G>T n.6118G>T c.201+1211G>T n.510G>T c.1417G>T (p.Val473Leu) c.1024G>T (p.Val342Leu) | |
4 | g.186210484T>A | CA358950768 | CYP4V2,KLKB1 | c.1421T>A (p.Val474Glu) n.656T>A n.6119T>A c.201+1212T>A n.511T>A c.1418T>A (p.Val473Glu) c.1025T>A (p.Val342Glu) | |
4 | g.186210484T>C | CA358950769 | CYP4V2,KLKB1 | c.1421T>C (p.Val474Ala) n.656T>C n.6119T>C c.201+1212T>C n.511T>C c.1418T>C (p.Val473Ala) c.1025T>C (p.Val342Ala) | COSMIC |
4 | g.186210484T>G | CA358950770 | CYP4V2,KLKB1 | c.1421T>G (p.Val474Gly) n.656T>G n.6119T>G c.201+1212T>G n.511T>G c.1418T>G (p.Val473Gly) c.1025T>G (p.Val342Gly) | |
4 | g.186210485del | CA2672898170 | CYP4V2,KLKB1 | c.1422del (p.Met475TrpfsTer11) n.657del n.6120del c.201+1213del n.512del c.1419del (p.Met474TrpfsTer11) c.1026del (p.Met343TrpfsTer11) | gnomAD v4 |
4 | g.186210485G>A | CA442641162 | CYP4V2,KLKB1 | c.1422G>A (p.Val474=) n.657G>A n.6120G>A c.201+1213G>A n.512G>A c.1419G>A (p.Val473=) c.1026G>A (p.Val342=) | |
4 | g.186210485G>C | CA442641161 | CYP4V2,KLKB1 | c.1422G>C (p.Val474=) n.657G>C n.6120G>C c.201+1213G>C n.512G>C c.1419G>C (p.Val473=) c.1026G>C (p.Val342=) | |
4 | g.186210485G>T | CA442641163 | CYP4V2,KLKB1 | c.1422G>T (p.Val474=) n.657G>T n.6120G>T c.201+1213G>T n.512G>T c.1419G>T (p.Val473=) c.1026G>T (p.Val342=) | |
4 | g.186210486A= | CA1519892057 | CYP4V2,KLKB1 | c.1423A= (p.Met475=) n.658A= n.6121A= c.201+1214A= n.513A= c.1420A= (p.Met474=) c.1027A= (p.Met343=) | |
4 | g.186210486A>C | CA358950771 | CYP4V2,KLKB1 | c.1423A>C (p.Met475Leu) n.658A>C n.6121A>C c.201+1214A>C n.513A>C c.1420A>C (p.Met474Leu) c.1027A>C (p.Met343Leu) | gnomAD v4 |
4 | g.186210486A>G | CA3162860 | CYP4V2,KLKB1 | c.1423A>G (p.Met475Val) n.658A>G n.6121A>G c.201+1214A>G n.513A>G c.1420A>G (p.Met474Val) c.1027A>G (p.Met343Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210486A>T | CA358950772 | CYP4V2,KLKB1 | c.1423A>T (p.Met475Leu) n.658A>T n.6121A>T c.201+1214A>T n.513A>T c.1420A>T (p.Met474Leu) c.1027A>T (p.Met343Leu) | |
4 | g.186210487T>A | CA358950773 | CYP4V2,KLKB1 | c.1424T>A (p.Met475Lys) n.659T>A n.6122T>A c.201+1215T>A n.514T>A c.1421T>A (p.Met474Lys) c.1028T>A (p.Met343Lys) | |
4 | g.186210487T>C | CA358950774 | CYP4V2,KLKB1 | c.1424T>C (p.Met475Thr) n.659T>C n.6122T>C c.201+1215T>C n.514T>C c.1421T>C (p.Met474Thr) c.1028T>C (p.Met343Thr) | |
4 | g.186210487T>G | CA358950775 | CYP4V2,KLKB1 | c.1424T>G (p.Met475Arg) n.659T>G n.6122T>G c.201+1215T>G n.514T>G c.1421T>G (p.Met474Arg) c.1028T>G (p.Met343Arg) | |
4 | g.186210488G>A | CA358950778 | CYP4V2,KLKB1 | c.1425G>A (p.Met475Ile) n.660G>A n.6123G>A c.201+1216G>A n.515G>A c.1422G>A (p.Met474Ile) c.1029G>A (p.Met343Ile) | gnomAD v4 |
4 | g.186210488G>C | CA358950776 | CYP4V2,KLKB1 | c.1425G>C (p.Met475Ile) n.660G>C n.6123G>C c.201+1216G>C n.515G>C c.1422G>C (p.Met474Ile) c.1029G>C (p.Met343Ile) | |
4 | g.186210488G>T | CA358950777 | CYP4V2,KLKB1 | c.1425G>T (p.Met475Ile) n.660G>T n.6123G>T c.201+1216G>T n.515G>T c.1422G>T (p.Met474Ile) c.1029G>T (p.Met343Ile) | |
4 | g.186210489G>A | CA358950779 | CYP4V2,KLKB1 | c.1426G>A (p.Glu476Lys) n.661G>A n.6124G>A c.201+1217G>A n.516G>A c.1423G>A (p.Glu475Lys) c.1030G>A (p.Glu344Lys) | |
4 | g.186210489G>C | CA358950780 | CYP4V2,KLKB1 | c.1426G>C (p.Glu476Gln) n.661G>C n.6124G>C c.201+1217G>C n.516G>C c.1423G>C (p.Glu475Gln) c.1030G>C (p.Glu344Gln) | |
4 | g.186210489G>T | CA358950781 | CYP4V2,KLKB1 | c.1426G>T (p.Glu476Ter) n.661G>T n.6124G>T c.201+1217G>T n.516G>T c.1423G>T (p.Glu475Ter) c.1030G>T (p.Glu344Ter) | |
4 | g.186210490A= | CA1519892058 | CYP4V2,KLKB1 | c.1427A= (p.Glu476=) n.662A= n.6125A= c.201+1218A= n.517A= c.1424A= (p.Glu475=) c.1031A= (p.Glu344=) | |
4 | g.186210490A>C | CA358950782 | CYP4V2,KLKB1 | c.1427A>C (p.Glu476Ala) n.662A>C n.6125A>C c.201+1218A>C n.517A>C c.1424A>C (p.Glu475Ala) c.1031A>C (p.Glu344Ala) | |
4 | g.186210490A>G | CA3162861 | CYP4V2,KLKB1 | c.1427A>G (p.Glu476Gly) n.662A>G n.6125A>G c.201+1218A>G n.517A>G c.1424A>G (p.Glu475Gly) c.1031A>G (p.Glu344Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210490A>T | CA358950783 | CYP4V2,KLKB1 | c.1427A>T (p.Glu476Val) n.662A>T n.6125A>T c.201+1218A>T n.517A>T c.1424A>T (p.Glu475Val) c.1031A>T (p.Glu344Val) | |
4 | g.186210491A>C | CA358950784 | CYP4V2,KLKB1 | c.1428A>C (p.Glu476Asp) n.663A>C n.6126A>C c.201+1219A>C n.518A>C c.1425A>C (p.Glu475Asp) c.1032A>C (p.Glu344Asp) | |
4 | g.186210491A>G | CA442641170 | CYP4V2,KLKB1 | c.1428A>G (p.Glu476=) n.663A>G n.6126A>G c.201+1219A>G n.518A>G c.1425A>G (p.Glu475=) c.1032A>G (p.Glu344=) | dbSNP gnomAD v4 |
4 | g.186210491A>T | CA358950785 | CYP4V2,KLKB1 | c.1428A>T (p.Glu476Asp) n.663A>T n.6126A>T c.201+1219A>T n.518A>T c.1425A>T (p.Glu475Asp) c.1032A>T (p.Glu344Asp) | |
4 | g.186210492G>A | CA358950786 | CYP4V2,KLKB1 | c.1429G>A (p.Glu477Lys) n.664G>A n.6127G>A c.201+1220G>A n.519G>A c.1426G>A (p.Glu476Lys) c.1033G>A (p.Glu345Lys) | |
4 | g.186210492G>C | CA358950787 | CYP4V2,KLKB1 | c.1429G>C (p.Glu477Gln) n.664G>C n.6127G>C c.201+1220G>C n.519G>C c.1426G>C (p.Glu476Gln) c.1033G>C (p.Glu345Gln) | |
4 | g.186210492G= | CA1519892059 | CYP4V2,KLKB1 | c.1429G= (p.Glu477=) n.664G= n.6127G= c.201+1220G= n.519G= c.1426G= (p.Glu476=) c.1033G= (p.Glu345=) | |
4 | g.186210492G>T | CA358950788 | CYP4V2,KLKB1 | c.1429G>T (p.Glu477Ter) n.664G>T n.6127G>T c.201+1220G>T n.519G>T c.1426G>T (p.Glu476Ter) c.1033G>T (p.Glu345Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210493A>C | CA358950791 | CYP4V2,KLKB1 | c.1430A>C (p.Glu477Ala) n.665A>C n.6128A>C c.201+1221A>C n.520A>C c.1427A>C (p.Glu476Ala) c.1034A>C (p.Glu345Ala) | |
4 | g.186210493A>G | CA358950790 | CYP4V2,KLKB1 | c.1430A>G (p.Glu477Gly) n.665A>G n.6128A>G c.201+1221A>G n.520A>G c.1427A>G (p.Glu476Gly) c.1034A>G (p.Glu345Gly) | gnomAD v4 |
4 | g.186210493A>T | CA358950789 | CYP4V2,KLKB1 | c.1430A>T (p.Glu477Val) n.665A>T n.6128A>T c.201+1221A>T n.520A>T c.1427A>T (p.Glu476Val) c.1034A>T (p.Glu345Val) | |
4 | g.186210494A= | CA1519892060 | CYP4V2,KLKB1 | c.1431A= (p.Glu477=) n.666A= n.6129A= c.201+1222A= n.521A= c.1428A= (p.Glu476=) c.1035A= (p.Glu345=) | |
4 | g.186210494A>C | CA358950792 | CYP4V2,KLKB1 | c.1431A>C (p.Glu477Asp) n.666A>C n.6129A>C c.201+1222A>C n.521A>C c.1428A>C (p.Glu476Asp) c.1035A>C (p.Glu345Asp) | |
4 | g.186210494A>G | CA3162862 | CYP4V2,KLKB1 | c.1431A>G (p.Glu477=) n.666A>G n.6129A>G c.201+1222A>G n.521A>G c.1428A>G (p.Glu476=) c.1035A>G (p.Glu345=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210494A>T | CA358950793 | CYP4V2,KLKB1 | c.1431A>T (p.Glu477Asp) n.666A>T n.6129A>T c.201+1222A>T n.521A>T c.1428A>T (p.Glu476Asp) c.1035A>T (p.Glu345Asp) | |
4 | g.186210495A>C | CA358950794 | CYP4V2,KLKB1 | c.1432A>C (p.Lys478Gln) n.667A>C n.6130A>C c.201+1223A>C n.522A>C c.1429A>C (p.Lys477Gln) c.1036A>C (p.Lys346Gln) | |
4 | g.186210495A>G | CA358950795 | CYP4V2,KLKB1 | c.1432A>G (p.Lys478Glu) n.667A>G n.6130A>G c.201+1223A>G n.522A>G c.1429A>G (p.Lys477Glu) c.1036A>G (p.Lys346Glu) | ClinVar gnomAD v4 |
4 | g.186210495A>T | CA358950796 | CYP4V2,KLKB1 | c.1432A>T (p.Lys478Ter) n.667A>T n.6130A>T c.201+1223A>T n.522A>T c.1429A>T (p.Lys477Ter) c.1036A>T (p.Lys346Ter) | |
4 | g.186210496A>C | CA358950799 | CYP4V2,KLKB1 | c.1433A>C (p.Lys478Thr) n.668A>C n.6131A>C c.201+1224A>C n.523A>C c.1430A>C (p.Lys477Thr) c.1037A>C (p.Lys346Thr) | |
4 | g.186210496A>G | CA358950797 | CYP4V2,KLKB1 | c.1433A>G (p.Lys478Arg) n.668A>G n.6131A>G c.201+1224A>G n.523A>G c.1430A>G (p.Lys477Arg) c.1037A>G (p.Lys346Arg) | |
4 | g.186210496A>T | CA358950798 | CYP4V2,KLKB1 | c.1433A>T (p.Lys478Met) n.668A>T n.6131A>T c.201+1224A>T n.523A>T c.1430A>T (p.Lys477Met) c.1037A>T (p.Lys346Met) | |
4 | g.186210497G>A | CA442641173 | CYP4V2,KLKB1 | c.1434G>A (p.Lys478=) n.669G>A n.6132G>A c.201+1225G>A n.524G>A c.1431G>A (p.Lys477=) c.1038G>A (p.Lys346=) | ClinVar dbSNP gnomAD v4 |
4 | g.186210497G>C | CA358950800 | CYP4V2,KLKB1 | c.1434G>C (p.Lys478Asn) n.669G>C n.6132G>C c.201+1225G>C n.524G>C c.1431G>C (p.Lys477Asn) c.1038G>C (p.Lys346Asn) | |
4 | g.186210497G>T | CA358950801 | CYP4V2,KLKB1 | c.1434G>T (p.Lys478Asn) n.669G>T n.6132G>T c.201+1225G>T n.524G>T c.1431G>T (p.Lys477Asn) c.1038G>T (p.Lys346Asn) | |
4 | g.186210498A>C | CA358950802 | CYP4V2,KLKB1 | c.1435A>C (p.Thr479Pro) n.670A>C n.6133A>C c.201+1226A>C n.525A>C c.1432A>C (p.Thr478Pro) c.1039A>C (p.Thr347Pro) | |
4 | g.186210498A>G | CA358950803 | CYP4V2,KLKB1 | c.1435A>G (p.Thr479Ala) n.670A>G n.6133A>G c.201+1226A>G n.525A>G c.1432A>G (p.Thr478Ala) c.1039A>G (p.Thr347Ala) | |
4 | g.186210498A>T | CA358950804 | CYP4V2,KLKB1 | c.1435A>T (p.Thr479Ser) n.670A>T n.6133A>T c.201+1226A>T n.525A>T c.1432A>T (p.Thr478Ser) c.1039A>T (p.Thr347Ser) | |
4 | g.186210499C>A | CA358950805 | CYP4V2,KLKB1 | c.1436C>A (p.Thr479Asn) n.671C>A n.6134C>A c.201+1227C>A n.526C>A c.1433C>A (p.Thr478Asn) c.1040C>A (p.Thr347Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210499C= | CA1519892061 | CYP4V2,KLKB1 | c.1436C= (p.Thr479=) n.671C= n.6134C= c.201+1227C= n.526C= c.1433C= (p.Thr478=) c.1040C= (p.Thr347=) | |
4 | g.186210499C>G | CA358950807 | CYP4V2,KLKB1 | c.1436C>G (p.Thr479Ser) n.671C>G n.6134C>G c.201+1227C>G n.526C>G c.1433C>G (p.Thr478Ser) c.1040C>G (p.Thr347Ser) | |
4 | g.186210499C>T | CA358950806 | CYP4V2,KLKB1 | c.1436C>T (p.Thr479Ile) n.671C>T n.6134C>T c.201+1227C>T n.526C>T c.1433C>T (p.Thr478Ile) c.1040C>T (p.Thr347Ile) | |
4 | g.186210500del | CA2695204062 | CYP4V2,KLKB1 | c.1437del (p.Ile480PhefsTer6) n.672del n.6135del c.201+1228del n.527del c.1434del (p.Ile479PhefsTer6) c.1041del (p.Ile348PhefsTer6) | |
4 | g.186210500C>A | CA442641177 | CYP4V2,KLKB1 | c.1437C>A (p.Thr479=) n.672C>A n.6135C>A c.201+1228C>A n.527C>A c.1434C>A (p.Thr478=) c.1041C>A (p.Thr347=) | |
4 | g.186210500C>G | CA442641175 | CYP4V2,KLKB1 | c.1437C>G (p.Thr479=) n.672C>G n.6135C>G c.201+1228C>G n.527C>G c.1434C>G (p.Thr478=) c.1041C>G (p.Thr347=) | |
4 | g.186210500C>T | CA442641174 | CYP4V2,KLKB1 | c.1437C>T (p.Thr479=) n.672C>T n.6135C>T c.201+1228C>T n.527C>T c.1434C>T (p.Thr478=) c.1041C>T (p.Thr347=) | |
4 | g.186210501A>C | CA358950808 | CYP4V2,KLKB1 | c.1438A>C (p.Ile480Leu) n.673A>C n.6136A>C c.201+1229A>C n.528A>C c.1435A>C (p.Ile479Leu) c.1042A>C (p.Ile348Leu) | |
4 | g.186210501A>G | CA358950809 | CYP4V2,KLKB1 | c.1438A>G (p.Ile480Val) n.673A>G n.6136A>G c.201+1229A>G n.528A>G c.1435A>G (p.Ile479Val) c.1042A>G (p.Ile348Val) | |
4 | g.186210501A>T | CA358950810 | CYP4V2,KLKB1 | c.1438A>T (p.Ile480Phe) n.673A>T n.6136A>T c.201+1229A>T n.528A>T c.1435A>T (p.Ile479Phe) c.1042A>T (p.Ile348Phe) | COSMIC |
4 | g.186210502T>A | CA358950811 | CYP4V2,KLKB1 | c.1439T>A (p.Ile480Asn) n.674T>A n.6137T>A c.201+1230T>A n.529T>A c.1436T>A (p.Ile479Asn) c.1043T>A (p.Ile348Asn) | |
4 | g.186210502T>C | CA3162863 | CYP4V2,KLKB1 | c.1439T>C (p.Ile480Thr) n.674T>C n.6137T>C c.201+1230T>C n.529T>C c.1436T>C (p.Ile479Thr) c.1043T>C (p.Ile348Thr) | dbSNP ExAC gnomAD v4 |
4 | g.186210502T>G | CA358950812 | CYP4V2,KLKB1 | c.1439T>G (p.Ile480Ser) n.674T>G n.6137T>G c.201+1230T>G n.529T>G c.1436T>G (p.Ile479Ser) c.1043T>G (p.Ile348Ser) | |
4 | g.186210502T= | CA1519892062 | CYP4V2,KLKB1 | c.1439T= (p.Ile480=) n.674T= n.6137T= c.201+1230T= n.529T= c.1436T= (p.Ile479=) c.1043T= (p.Ile348=) | |
4 | g.186210503T>A | CA442641180 | CYP4V2,KLKB1 | c.1440T>A (p.Ile480=) n.675T>A n.6138T>A c.201+1231T>A n.530T>A c.1437T>A (p.Ile479=) c.1044T>A (p.Ile348=) | |
4 | g.186210503T>C | CA442641181 | CYP4V2,KLKB1 | c.1440T>C (p.Ile480=) n.675T>C n.6138T>C c.201+1231T>C n.530T>C c.1437T>C (p.Ile479=) c.1044T>C (p.Ile348=) | gnomAD v4 |
4 | g.186210503T>G | CA358950813 | CYP4V2,KLKB1 | c.1440T>G (p.Ile480Met) n.675T>G n.6138T>G c.201+1231T>G n.530T>G c.1437T>G (p.Ile479Met) c.1044T>G (p.Ile348Met) | |
4 | g.186210504C>A | CA3162865 | CYP4V2,KLKB1 | c.1441C>A (p.Leu481Ile) n.676C>A n.6139C>A c.201+1232C>A n.531C>A c.1438C>A (p.Leu480Ile) c.1045C>A (p.Leu349Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.186210504C= | CA1519892063 | CYP4V2,KLKB1 | c.1441C= (p.Leu481=) n.676C= n.6139C= c.201+1232C= n.531C= c.1438C= (p.Leu480=) c.1045C= (p.Leu349=) | |
4 | g.186210504C>G | CA3162864 | CYP4V2,KLKB1 | c.1441C>G (p.Leu481Val) n.676C>G n.6139C>G c.201+1232C>G n.531C>G c.1438C>G (p.Leu480Val) c.1045C>G (p.Leu349Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210504C>T | CA358950814 | CYP4V2,KLKB1 | c.1441C>T (p.Leu481Phe) n.676C>T n.6139C>T c.201+1232C>T n.531C>T c.1438C>T (p.Leu480Phe) c.1045C>T (p.Leu349Phe) | gnomAD v4 |
4 | g.186210505T>A | CA358950817 | CYP4V2,KLKB1 | c.1442T>A (p.Leu481His) n.677T>A n.6140T>A c.201+1233T>A n.532T>A c.1439T>A (p.Leu480His) c.1046T>A (p.Leu349His) | |
4 | g.186210505T>C | CA358950816 | CYP4V2,KLKB1 | c.1442T>C (p.Leu481Pro) n.677T>C n.6140T>C c.201+1233T>C n.532T>C c.1439T>C (p.Leu480Pro) c.1046T>C (p.Leu349Pro) | COSMIC |
4 | g.186210505T>G | CA358950815 | CYP4V2,KLKB1 | c.1442T>G (p.Leu481Arg) n.677T>G n.6140T>G c.201+1233T>G n.532T>G c.1439T>G (p.Leu480Arg) c.1046T>G (p.Leu349Arg) | gnomAD v4 |
4 | g.186210507del | CA2695204063 | CYP4V2,KLKB1 | c.1444del (p.Ser482ArgfsTer4) n.679del n.6142del c.201+1235del n.534del c.1441del (p.Ser481ArgfsTer4) c.1048del (p.Ser350ArgfsTer4) | |
4 | g.186210506T>A | CA442641185 | CYP4V2,KLKB1 | c.1443T>A (p.Leu481=) n.678T>A n.6141T>A c.201+1234T>A n.533T>A c.1440T>A (p.Leu480=) c.1047T>A (p.Leu349=) | |
4 | g.186210506T>C | CA442641186 | CYP4V2,KLKB1 | c.1443T>C (p.Leu481=) n.678T>C n.6141T>C c.201+1234T>C n.533T>C c.1440T>C (p.Leu480=) c.1047T>C (p.Leu349=) | |
4 | g.186210506T>G | CA442641187 | CYP4V2,KLKB1 | c.1443T>G (p.Leu481=) n.678T>G n.6141T>G c.201+1234T>G n.533T>G c.1440T>G (p.Leu480=) c.1047T>G (p.Leu349=) | |
4 | g.186210507T>A | CA358950818 | CYP4V2,KLKB1 | c.1444T>A (p.Ser482Thr) n.679T>A n.6142T>A c.201+1235T>A n.534T>A c.1441T>A (p.Ser481Thr) c.1048T>A (p.Ser350Thr) | |
4 | g.186210507T>C | CA3162866 | CYP4V2,KLKB1 | c.1444T>C (p.Ser482Pro) n.679T>C n.6142T>C c.201+1235T>C n.534T>C c.1441T>C (p.Ser481Pro) c.1048T>C (p.Ser350Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210507T>G | CA358950819 | CYP4V2,KLKB1 | c.1444T>G (p.Ser482Ala) n.679T>G n.6142T>G c.201+1235T>G n.534T>G c.1441T>G (p.Ser481Ala) c.1048T>G (p.Ser350Ala) | ClinVar dbSNP |
4 | g.186210507T= | CA1519892064 | CYP4V2,KLKB1 | c.1444T= (p.Ser482=) n.679T= n.6142T= c.201+1235T= n.534T= c.1441T= (p.Ser481=) c.1048T= (p.Ser350=) | |
4 | g.186210508C>A | CA343719 | CYP4V2,KLKB1 | c.1445C>A (p.Ser482Ter) n.680C>A n.6143C>A c.201+1236C>A n.535C>A c.1442C>A (p.Ser481Ter) c.1049C>A (p.Ser350Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.186210508C= | CA1519892065 | CYP4V2,KLKB1 | c.1445C= (p.Ser482=) n.680C= n.6143C= c.201+1236C= n.535C= c.1442C= (p.Ser481=) c.1049C= (p.Ser350=) | |
4 | g.186210508C>G | CA358950820 | CYP4V2,KLKB1 | c.1445C>G (p.Ser482Trp) n.680C>G n.6143C>G c.201+1236C>G n.535C>G c.1442C>G (p.Ser481Trp) c.1049C>G (p.Ser350Trp) | dbSNP |
4 | g.186210508C>T | CA3162867 | CYP4V2,KLKB1 | c.1445C>T (p.Ser482Leu) n.680C>T n.6143C>T c.201+1236C>T n.535C>T c.1442C>T (p.Ser481Leu) c.1049C>T (p.Ser350Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.186210509G>A | CA200875 | CYP4V2,KLKB1 | c.1446G>A (p.Ser482=) n.681G>A n.6144G>A c.201+1237G>A n.536G>A c.1443G>A (p.Ser481=) c.1050G>A (p.Ser350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210509G>C | CA442641189 | CYP4V2,KLKB1 | c.1446G>C (p.Ser482=) n.681G>C n.6144G>C c.201+1237G>C n.536G>C c.1443G>C (p.Ser481=) c.1050G>C (p.Ser350=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210509G= | CA1519892066 | CYP4V2,KLKB1 | c.1446G= (p.Ser482=) n.681G= n.6144G= c.201+1237G= n.536G= c.1443G= (p.Ser481=) c.1050G= (p.Ser350=) | |
4 | g.186210509G>T | CA3162868 | CYP4V2,KLKB1 | c.1446G>T (p.Ser482=) n.681G>T n.6144G>T c.201+1237G>T n.536G>T c.1443G>T (p.Ser481=) c.1050G>T (p.Ser350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210510T>A | CA358950821 | CYP4V2,KLKB1 | c.1447T>A (p.Cys483Ser) n.682T>A n.6145T>A c.201+1238T>A n.537T>A c.1444T>A (p.Cys482Ser) c.1051T>A (p.Cys351Ser) | |
4 | g.186210510T>C | CA358950822 | CYP4V2,KLKB1 | c.1447T>C (p.Cys483Arg) n.682T>C n.6145T>C c.201+1238T>C n.537T>C c.1444T>C (p.Cys482Arg) c.1051T>C (p.Cys351Arg) | |
4 | g.186210510T>G | CA358950823 | CYP4V2,KLKB1 | c.1447T>G (p.Cys483Gly) n.682T>G n.6145T>G c.201+1238T>G n.537T>G c.1444T>G (p.Cys482Gly) c.1051T>G (p.Cys351Gly) | |
4 | g.186210511G>A | CA358950824 | CYP4V2,KLKB1 | c.1448G>A (p.Cys483Tyr) n.683G>A n.6146G>A c.201+1239G>A n.538G>A c.1445G>A (p.Cys482Tyr) c.1052G>A (p.Cys351Tyr) | dbSNP gnomAD v4 |
4 | g.186210511G>C | CA358950825 | CYP4V2,KLKB1 | c.1448G>C (p.Cys483Ser) n.683G>C n.6146G>C c.201+1239G>C n.538G>C c.1445G>C (p.Cys482Ser) c.1052G>C (p.Cys351Ser) | |
4 | g.186210511G= | CA1519892067 | CYP4V2,KLKB1 | c.1448G= (p.Cys483=) n.683G= n.6146G= c.201+1239G= n.538G= c.1445G= (p.Cys482=) c.1052G= (p.Cys351=) | |
4 | g.186210511G>T | CA3162869 | CYP4V2,KLKB1 | c.1448G>T (p.Cys483Phe) n.683G>T n.6146G>T c.201+1239G>T n.538G>T c.1445G>T (p.Cys482Phe) c.1052G>T (p.Cys351Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210512C>A | CA358950826 | CYP4V2,KLKB1 | c.1449C>A (p.Cys483Ter) n.684C>A n.6147C>A c.201+1240C>A n.539C>A c.1446C>A (p.Cys482Ter) c.1053C>A (p.Cys351Ter) | |
4 | g.186210512C>G | CA358950827 | CYP4V2,KLKB1 | c.1449C>G (p.Cys483Trp) n.684C>G n.6147C>G c.201+1240C>G n.539C>G c.1446C>G (p.Cys482Trp) c.1053C>G (p.Cys351Trp) | |
4 | g.186210512C>T | CA442641190 | CYP4V2,KLKB1 | c.1449C>T (p.Cys483=) n.684C>T n.6147C>T c.201+1240C>T n.539C>T c.1446C>T (p.Cys482=) c.1053C>T (p.Cys351=) | |
4 | g.186210513A>C | CA358950828 | CYP4V2,KLKB1 | c.1450A>C (p.Ile484Leu) n.685A>C n.6148A>C c.201+1241A>C n.540A>C c.1447A>C (p.Ile483Leu) c.1054A>C (p.Ile352Leu) | |
4 | g.186210513A>G | CA358950830 | CYP4V2,KLKB1 | c.1450A>G (p.Ile484Val) n.685A>G n.6148A>G c.201+1241A>G n.540A>G c.1447A>G (p.Ile483Val) c.1054A>G (p.Ile352Val) | |
4 | g.186210513A>T | CA358950829 | CYP4V2,KLKB1 | c.1450A>T (p.Ile484Phe) n.685A>T n.6148A>T c.201+1241A>T n.540A>T c.1447A>T (p.Ile483Phe) c.1054A>T (p.Ile352Phe) | |
4 | g.186210514T>A | CA358950831 | CYP4V2,KLKB1 | c.1451T>A (p.Ile484Asn) n.686T>A n.6149T>A c.201+1242T>A n.541T>A c.1448T>A (p.Ile483Asn) c.1055T>A (p.Ile352Asn) | |
4 | g.186210514T>C | CA358950832 | CYP4V2,KLKB1 | c.1451T>C (p.Ile484Thr) n.686T>C n.6149T>C c.201+1242T>C n.541T>C c.1448T>C (p.Ile483Thr) c.1055T>C (p.Ile352Thr) | |
4 | g.186210514T>G | CA358950833 | CYP4V2,KLKB1 | c.1451T>G (p.Ile484Ser) n.686T>G n.6149T>G c.201+1242T>G n.541T>G c.1448T>G (p.Ile483Ser) c.1055T>G (p.Ile352Ser) | |
4 | g.186210515C>A | CA442641193 | CYP4V2,KLKB1 | c.1452C>A (p.Ile484=) n.687C>A n.6150C>A c.201+1243C>A n.542C>A c.1449C>A (p.Ile483=) c.1056C>A (p.Ile352=) | |
4 | g.186210515C= | CA1519892068 | CYP4V2,KLKB1 | c.1452C= (p.Ile484=) n.687C= n.6150C= c.201+1243C= n.542C= c.1449C= (p.Ile483=) c.1056C= (p.Ile352=) | |
4 | g.186210515C>G | CA358950834 | CYP4V2,KLKB1 | c.1452C>G (p.Ile484Met) n.687C>G n.6150C>G c.201+1243C>G n.542C>G c.1449C>G (p.Ile483Met) c.1056C>G (p.Ile352Met) | |
4 | g.186210515C>T | CA3162870 | CYP4V2,KLKB1 | c.1452C>T (p.Ile484=) n.687C>T n.6150C>T c.201+1243C>T n.542C>T c.1449C>T (p.Ile483=) c.1056C>T (p.Ile352=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210516C>A | CA358950835 | CYP4V2,KLKB1 | c.1453C>A (p.Leu485Met) n.688C>A n.6151C>A c.201+1244C>A n.543C>A c.1450C>A (p.Leu484Met) c.1057C>A (p.Leu353Met) | |
4 | g.186210516C= | CA1519892069 | CYP4V2,KLKB1 | c.1453C= (p.Leu485=) n.688C= n.6151C= c.201+1244C= n.543C= c.1450C= (p.Leu484=) c.1057C= (p.Leu353=) | |
4 | g.186210516C>G | CA358950836 | CYP4V2,KLKB1 | c.1453C>G (p.Leu485Val) n.688C>G n.6151C>G c.201+1244C>G n.543C>G c.1450C>G (p.Leu484Val) c.1057C>G (p.Leu353Val) | |
4 | g.186210516C>T | CA3162871 | CYP4V2,KLKB1 | c.1453C>T (p.Leu485=) n.688C>T n.6151C>T c.201+1244C>T n.543C>T c.1450C>T (p.Leu484=) c.1057C>T (p.Leu353=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210517T>A | CA358950838 | CYP4V2,KLKB1 | c.1454T>A (p.Leu485Gln) n.689T>A n.6152T>A c.201+1245T>A n.544T>A c.1451T>A (p.Leu484Gln) c.1058T>A (p.Leu353Gln) | |
4 | g.186210517T>C | CA358950840 | CYP4V2,KLKB1 | c.1454T>C (p.Leu485Pro) n.689T>C n.6152T>C c.201+1245T>C n.544T>C c.1451T>C (p.Leu484Pro) c.1058T>C (p.Leu353Pro) | COSMIC |
4 | g.186210517T>G | CA358950841 | CYP4V2,KLKB1 | c.1454T>G (p.Leu485Arg) n.689T>G n.6152T>G c.201+1245T>G n.544T>G c.1451T>G (p.Leu484Arg) c.1058T>G (p.Leu353Arg) | |
4 | g.186210518G>A | CA112136494 | CYP4V2,KLKB1 | c.1455G>A (p.Leu485=) n.690G>A n.6153G>A c.201+1246G>A n.545G>A c.1452G>A (p.Leu484=) c.1059G>A (p.Leu353=) | dbSNP |
4 | g.186210518G>C | CA442641195 | CYP4V2,KLKB1 | c.1455G>C (p.Leu485=) n.690G>C n.6153G>C c.201+1246G>C n.545G>C c.1452G>C (p.Leu484=) c.1059G>C (p.Leu353=) | |
4 | g.186210518G= | CA1519892070 | CYP4V2,KLKB1 | c.1455G= (p.Leu485=) n.690G= n.6153G= c.201+1246G= n.545G= c.1452G= (p.Leu484=) c.1059G= (p.Leu353=) | |
4 | g.186210518G>T | CA442641196 | CYP4V2,KLKB1 | c.1455G>T (p.Leu485=) n.690G>T n.6153G>T c.201+1246G>T n.545G>T c.1452G>T (p.Leu484=) c.1059G>T (p.Leu353=) | |
4 | g.186210519A= | CA1519892071 | CYP4V2,KLKB1 | c.1456A= (p.Arg486=) n.691A= n.6154A= c.201+1247A= n.546A= c.1453A= (p.Arg485=) c.1060A= (p.Arg354=) | |
4 | g.186210519A>C | CA442641198 | CYP4V2,KLKB1 | c.1456A>C (p.Arg486=) n.691A>C n.6154A>C c.201+1247A>C n.546A>C c.1453A>C (p.Arg485=) c.1060A>C (p.Arg354=) | |
4 | g.186210519A>G | CA358950843 | CYP4V2,KLKB1 | c.1456A>G (p.Arg486Gly) n.691A>G n.6154A>G c.201+1247A>G n.546A>G c.1453A>G (p.Arg485Gly) c.1060A>G (p.Arg354Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186210519A>T | CA3162872 | CYP4V2,KLKB1 | c.1456A>T (p.Arg486Trp) n.691A>T n.6154A>T c.201+1247A>T n.546A>T c.1453A>T (p.Arg485Trp) c.1060A>T (p.Arg354Trp) | dbSNP ExAC gnomAD v2 |
4 | g.186210520G>A | CA358950846 | CYP4V2,KLKB1 | c.1457G>A (p.Arg486Lys) n.692G>A n.6155G>A c.201+1248G>A n.547G>A c.1454G>A (p.Arg485Lys) c.1061G>A (p.Arg354Lys) | |
4 | g.186210520G>C | CA358950847 | CYP4V2,KLKB1 | c.1457G>C (p.Arg486Thr) n.692G>C n.6155G>C c.201+1248G>C n.547G>C c.1454G>C (p.Arg485Thr) c.1061G>C (p.Arg354Thr) | |
4 | g.186210520G>T | CA358950849 | CYP4V2,KLKB1 | c.1457G>T (p.Arg486Met) n.692G>T n.6155G>T c.201+1248G>T n.547G>T c.1454G>T (p.Arg485Met) c.1061G>T (p.Arg354Met) | |
4 | g.186210521G>A | CA442641199 | CYP4V2,KLKB1 | c.1458G>A (p.Arg486=) n.693G>A n.6156G>A c.201+1249G>A n.548G>A c.1455G>A (p.Arg485=) c.1062G>A (p.Arg354=) | |
4 | g.186210521G>C | CA358950851 | CYP4V2,KLKB1 | c.1458G>C (p.Arg486Ser) n.693G>C n.6156G>C c.201+1249G>C n.548G>C c.1455G>C (p.Arg485Ser) c.1062G>C (p.Arg354Ser) | |
4 | g.186210521G>T | CA358950853 | CYP4V2,KLKB1 | c.1458G>T (p.Arg486Ser) n.693G>T n.6156G>T c.201+1249G>T n.548G>T c.1455G>T (p.Arg485Ser) c.1062G>T (p.Arg354Ser) | |
4 | g.186210522C>A | CA358950855 | CYP4V2,KLKB1 | c.1459C>A (p.His487Asn) n.694C>A n.6157C>A c.201+1250C>A n.549C>A c.1456C>A (p.His486Asn) c.1063C>A (p.His355Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210522C= | CA1519892072 | CYP4V2,KLKB1 | c.1459C= (p.His487=) n.694C= n.6157C= c.201+1250C= n.549C= c.1456C= (p.His486=) c.1063C= (p.His355=) | |
4 | g.186210522C>G | CA3162874 | CYP4V2,KLKB1 | c.1459C>G (p.His487Asp) n.694C>G n.6157C>G c.201+1250C>G n.549C>G c.1456C>G (p.His486Asp) c.1063C>G (p.His355Asp) | dbSNP ExAC gnomAD v2 COSMIC |
4 | g.186210522C>T | CA3162873 | CYP4V2,KLKB1 | c.1459C>T (p.His487Tyr) n.694C>T n.6157C>T c.201+1250C>T n.549C>T c.1456C>T (p.His486Tyr) c.1063C>T (p.His355Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210523A>C | CA358950857 | CYP4V2,KLKB1 | c.1460A>C (p.His487Pro) n.695A>C n.6158A>C c.201+1251A>C n.550A>C c.1457A>C (p.His486Pro) c.1064A>C (p.His355Pro) | |
4 | g.186210523A>G | CA358950859 | CYP4V2,KLKB1 | c.1460A>G (p.His487Arg) n.695A>G n.6158A>G c.201+1251A>G n.550A>G c.1457A>G (p.His486Arg) c.1064A>G (p.His355Arg) | |
4 | g.186210523A>T | CA358950860 | CYP4V2,KLKB1 | c.1460A>T (p.His487Leu) n.695A>T n.6158A>T c.201+1251A>T n.550A>T c.1457A>T (p.His486Leu) c.1064A>T (p.His355Leu) | |
4 | g.186210524C>A | CA358950861 | CYP4V2,KLKB1 | c.1461C>A (p.His487Gln) n.696C>A n.6159C>A c.201+1252C>A n.551C>A c.1458C>A (p.His486Gln) c.1065C>A (p.His355Gln) | |
4 | g.186210524C>G | CA358950862 | CYP4V2,KLKB1 | c.1461C>G (p.His487Gln) n.696C>G n.6159C>G c.201+1252C>G n.551C>G c.1458C>G (p.His486Gln) c.1065C>G (p.His355Gln) | |
4 | g.186210524C>T | CA442641201 | CYP4V2,KLKB1 | c.1461C>T (p.His487=) n.696C>T n.6159C>T c.201+1252C>T n.551C>T c.1458C>T (p.His486=) c.1065C>T (p.His355=) | gnomAD v4 |
4 | g.186210525T>A | CA358950865 | CYP4V2,KLKB1 | c.1462T>A (p.Phe488Ile) n.697T>A n.6160T>A c.201+1253T>A n.552T>A c.1459T>A (p.Phe487Ile) c.1066T>A (p.Phe356Ile) | |
4 | g.186210525T>C | CA358950868 | CYP4V2,KLKB1 | c.1462T>C (p.Phe488Leu) n.697T>C n.6160T>C c.201+1253T>C n.552T>C c.1459T>C (p.Phe487Leu) c.1066T>C (p.Phe356Leu) | |
4 | g.186210525T>G | CA358950866 | CYP4V2,KLKB1 | c.1462T>G (p.Phe488Val) n.697T>G n.6160T>G c.201+1253T>G n.552T>G c.1459T>G (p.Phe487Val) c.1066T>G (p.Phe356Val) | ClinVar |
4 | g.186210526T>A | CA358950870 | CYP4V2,KLKB1 | c.1463T>A (p.Phe488Tyr) n.698T>A n.6161T>A c.201+1254T>A n.553T>A c.1460T>A (p.Phe487Tyr) c.1067T>A (p.Phe356Tyr) | |
4 | g.186210526T>C | CA358950872 | CYP4V2,KLKB1 | c.1463T>C (p.Phe488Ser) n.698T>C n.6161T>C c.201+1254T>C n.553T>C c.1460T>C (p.Phe487Ser) c.1067T>C (p.Phe356Ser) | |
4 | g.186210526T>G | CA358950874 | CYP4V2,KLKB1 | c.1463T>G (p.Phe488Cys) n.698T>G n.6161T>G c.201+1254T>G n.553T>G c.1460T>G (p.Phe487Cys) c.1067T>G (p.Phe356Cys) | |
4 | g.186210527T>A | CA358950875 | CYP4V2,KLKB1 | c.1464T>A (p.Phe488Leu) n.699T>A n.6162T>A c.201+1255T>A n.554T>A c.1461T>A (p.Phe487Leu) c.1068T>A (p.Phe356Leu) | |
4 | g.186210527T>C | CA442641202 | CYP4V2,KLKB1 | c.1464T>C (p.Phe488=) n.699T>C n.6162T>C c.201+1255T>C n.554T>C c.1461T>C (p.Phe487=) c.1068T>C (p.Phe356=) | |
4 | g.186210527T>G | CA358950876 | CYP4V2,KLKB1 | c.1464T>G (p.Phe488Leu) n.699T>G n.6162T>G c.201+1255T>G n.554T>G c.1461T>G (p.Phe487Leu) c.1068T>G (p.Phe356Leu) | |
4 | g.186210527_186210538delinsTTGGATAGAATC | CA1519892073 | CYP4V2,KLKB1 | c.1464_1475delinsTTGGATAGAATC (p.Phe488=) n.699_710delinsTTGGATAGAATC n.6162_6173delinsTTGGATAGAATC c.201+1255_201+1266delinsTTGGATAGAATC n.554_565delinsTTGGATAGAATC c.1461_1472delinsTTGGATAGAATC (p.Phe487=) c.1068_1079delinsTTGGATAGAATC (p.Phe356=) | |
4 | g.186210528T>A | CA358950877 | CYP4V2,KLKB1 | c.1465T>A (p.Trp489Arg) n.700T>A n.6163T>A c.201+1256T>A n.555T>A c.1462T>A (p.Trp488Arg) c.1069T>A (p.Trp357Arg) | |
4 | g.186210528T>C | CA358950879 | CYP4V2,KLKB1 | c.1465T>C (p.Trp489Arg) n.700T>C n.6163T>C c.201+1256T>C n.555T>C c.1462T>C (p.Trp488Arg) c.1069T>C (p.Trp357Arg) | gnomAD v4 |
4 | g.186210528T>G | CA358950881 | CYP4V2,KLKB1 | c.1465T>G (p.Trp489Gly) n.700T>G n.6163T>G c.201+1256T>G n.555T>G c.1462T>G (p.Trp488Gly) c.1069T>G (p.Trp357Gly) | |
4 | g.186210528_186210529delinsTG | CA1519892074 | CYP4V2,KLKB1 | c.1465_1466delinsTG (p.Trp489=) n.700_701delinsTG n.6163_6164delinsTG c.201+1256_201+1257delinsTG n.555_556delinsTG c.1462_1463delinsTG (p.Trp488=) c.1069_1070delinsTG (p.Trp357=) | |
4 | g.186210528_186210538del | CA792329398 | CYP4V2,KLKB1 | c.1465_1475del (p.Trp489GlnfsTer19) n.700_710del n.6163_6173del c.201+1256_201+1266del n.555_565del c.1462_1472del (p.Trp488GlnfsTer19) c.1069_1079del (p.Trp357GlnfsTer19) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210529G>A | CA358950883 | CYP4V2,KLKB1 | c.1466G>A (p.Trp489Ter) n.701G>A n.6164G>A c.201+1257G>A n.556G>A c.1463G>A (p.Trp488Ter) c.1070G>A (p.Trp357Ter) | |
4 | g.186210529G>C | CA358950885 | CYP4V2,KLKB1 | c.1466G>C (p.Trp489Ser) n.701G>C n.6164G>C c.201+1257G>C n.556G>C c.1463G>C (p.Trp488Ser) c.1070G>C (p.Trp357Ser) | |
4 | g.186210529G>T | CA358950887 | CYP4V2,KLKB1 | c.1466G>T (p.Trp489Leu) n.701G>T n.6164G>T c.201+1257G>T n.556G>T c.1463G>T (p.Trp488Leu) c.1070G>T (p.Trp357Leu) | |
4 | g.186210530del | CA1519892075 | CYP4V2,KLKB1 | c.1467del (p.Trp489Ter) n.702del n.6165del c.201+1258del n.557del c.1464del (p.Trp488Ter) c.1071del (p.Trp357Ter) | dbSNP |
4 | g.186210530G>A | CA358950890 | CYP4V2,KLKB1 | c.1467G>A (p.Trp489Ter) n.702G>A n.6165G>A c.201+1258G>A n.557G>A c.1464G>A (p.Trp488Ter) c.1071G>A (p.Trp357Ter) | |
4 | g.186210530G>C | CA358950891 | CYP4V2,KLKB1 | c.1467G>C (p.Trp489Cys) n.702G>C n.6165G>C c.201+1258G>C n.557G>C c.1464G>C (p.Trp488Cys) c.1071G>C (p.Trp357Cys) | |
4 | g.186210530G>T | CA358950888 | CYP4V2,KLKB1 | c.1467G>T (p.Trp489Cys) n.702G>T n.6165G>T c.201+1258G>T n.557G>T c.1464G>T (p.Trp488Cys) c.1071G>T (p.Trp357Cys) | |
4 | g.186210531A>C | CA358950893 | CYP4V2,KLKB1 | c.1468A>C (p.Ile490Leu) n.703A>C n.6166A>C c.201+1259A>C n.558A>C c.1465A>C (p.Ile489Leu) c.1072A>C (p.Ile358Leu) | |
4 | g.186210531A>G | CA358950896 | CYP4V2,KLKB1 | c.1468A>G (p.Ile490Val) n.703A>G n.6166A>G c.201+1259A>G n.558A>G c.1465A>G (p.Ile489Val) c.1072A>G (p.Ile358Val) | |
4 | g.186210531A>T | CA358950895 | CYP4V2,KLKB1 | c.1468A>T (p.Ile490Leu) n.703A>T n.6166A>T c.201+1259A>T n.558A>T c.1465A>T (p.Ile489Leu) c.1072A>T (p.Ile358Leu) | |
4 | g.186210532T>A | CA358950899 | CYP4V2,KLKB1 | c.1469T>A (p.Ile490Lys) n.704T>A n.6167T>A c.201+1260T>A n.559T>A c.1466T>A (p.Ile489Lys) c.1073T>A (p.Ile358Lys) | gnomAD v4 |
4 | g.186210532T>C | CA358950903 | CYP4V2,KLKB1 | c.1469T>C (p.Ile490Thr) n.704T>C n.6167T>C c.201+1260T>C n.559T>C c.1466T>C (p.Ile489Thr) c.1073T>C (p.Ile358Thr) | |
4 | g.186210532T>G | CA358950900 | CYP4V2,KLKB1 | c.1469T>G (p.Ile490Arg) n.704T>G n.6167T>G c.201+1260T>G n.559T>G c.1466T>G (p.Ile489Arg) c.1073T>G (p.Ile358Arg) | |
4 | g.186210533A>C | CA442641203 | CYP4V2,KLKB1 | c.1470A>C (p.Ile490=) n.705A>C n.6168A>C c.201+1261A>C n.560A>C c.1467A>C (p.Ile489=) c.1074A>C (p.Ile358=) | |
4 | g.186210533A>G | CA358950904 | CYP4V2,KLKB1 | c.1470A>G (p.Ile490Met) n.705A>G n.6168A>G c.201+1261A>G n.560A>G c.1467A>G (p.Ile489Met) c.1074A>G (p.Ile358Met) | ClinVar |
4 | g.186210533A>T | CA442641204 | CYP4V2,KLKB1 | c.1470A>T (p.Ile490=) n.705A>T n.6168A>T c.201+1261A>T n.560A>T c.1467A>T (p.Ile489=) c.1074A>T (p.Ile358=) | |
4 | g.186210534_186210540del | CA2672898195 | CYP4V2,KLKB1 | c.1471_1477del (p.Glu491ThrfsTer9) n.706_712del n.6169_6175del c.201+1262_201+1268del n.561_567del c.1468_1474del (p.Glu490ThrfsTer9) c.1075_1081del (p.Glu359ThrfsTer9) | gnomAD v4 |
4 | g.186210534G>A | CA358950910 | CYP4V2,KLKB1 | c.1471G>A (p.Glu491Lys) n.706G>A n.6169G>A c.201+1262G>A n.561G>A c.1468G>A (p.Glu490Lys) c.1075G>A (p.Glu359Lys) | |
4 | g.186210534G>C | CA358950906 | CYP4V2,KLKB1 | c.1471G>C (p.Glu491Gln) n.706G>C n.6169G>C c.201+1262G>C n.561G>C c.1468G>C (p.Glu490Gln) c.1075G>C (p.Glu359Gln) | dbSNP |
4 | g.186210534G= | CA1519892076 | CYP4V2,KLKB1 | c.1471G= (p.Glu491=) n.706G= n.6169G= c.201+1262G= n.561G= c.1468G= (p.Glu490=) c.1075G= (p.Glu359=) | |
4 | g.186210534G>T | CA358950908 | CYP4V2,KLKB1 | c.1471G>T (p.Glu491Ter) n.706G>T n.6169G>T c.201+1262G>T n.561G>T c.1468G>T (p.Glu490Ter) c.1075G>T (p.Glu359Ter) | COSMIC |
4 | g.186210534_186210535insGGC | CA645540548 | CYP4V2,KLKB1 | c.1471_1472insGGC (p.Glu491delinsGlyGln) n.706_707insGGC n.6169_6170insGGC c.201+1262_201+1263insGGC n.561_562insGGC c.1468_1469insGGC (p.Glu490delinsGlyGln) c.1075_1076insGGC (p.Glu359delinsGlyGln) | COSMIC |
4 | g.186210535A>C | CA358950912 | CYP4V2,KLKB1 | c.1472A>C (p.Glu491Ala) n.707A>C n.6170A>C c.201+1263A>C n.562A>C c.1469A>C (p.Glu490Ala) c.1076A>C (p.Glu359Ala) | |
4 | g.186210535A>G | CA358950913 | CYP4V2,KLKB1 | c.1472A>G (p.Glu491Gly) n.707A>G n.6170A>G c.201+1263A>G n.562A>G c.1469A>G (p.Glu490Gly) c.1076A>G (p.Glu359Gly) | |
4 | g.186210535A>T | CA358950915 | CYP4V2,KLKB1 | c.1472A>T (p.Glu491Val) n.707A>T n.6170A>T c.201+1263A>T n.562A>T c.1469A>T (p.Glu490Val) c.1076A>T (p.Glu359Val) | |
4 | g.186210536A>C | CA358950916 | CYP4V2,KLKB1 | c.1473A>C (p.Glu491Asp) n.708A>C n.6171A>C c.201+1264A>C n.563A>C c.1470A>C (p.Glu490Asp) c.1077A>C (p.Glu359Asp) | |
4 | g.186210536A>G | CA442641205 | CYP4V2,KLKB1 | c.1473A>G (p.Glu491=) n.708A>G n.6171A>G c.201+1264A>G n.563A>G c.1470A>G (p.Glu490=) c.1077A>G (p.Glu359=) | |
4 | g.186210536A>T | CA358950917 | CYP4V2,KLKB1 | c.1473A>T (p.Glu491Asp) n.708A>T n.6171A>T c.201+1264A>T n.563A>T c.1470A>T (p.Glu490Asp) c.1077A>T (p.Glu359Asp) | |
4 | g.186210537T>A | CA358950919 | CYP4V2,KLKB1 | c.1474T>A (p.Ser492Thr) n.709T>A n.6172T>A c.201+1265T>A n.564T>A c.1471T>A (p.Ser491Thr) c.1078T>A (p.Ser360Thr) | gnomAD v4 |
4 | g.186210537T>C | CA358950921 | CYP4V2,KLKB1 | c.1474T>C (p.Ser492Pro) n.709T>C n.6172T>C c.201+1265T>C n.564T>C c.1471T>C (p.Ser491Pro) c.1078T>C (p.Ser360Pro) | |
4 | g.186210537T>G | CA358950923 | CYP4V2,KLKB1 | c.1474T>G (p.Ser492Ala) n.709T>G n.6172T>G c.201+1265T>G n.564T>G c.1471T>G (p.Ser491Ala) c.1078T>G (p.Ser360Ala) | |
4 | g.186210537_186210539del | CA645540549 | CYP4V2,KLKB1 | c.1474_1476del (p.Ser492del) n.709_711del n.6172_6174del c.201+1265_201+1267del n.564_566del c.1471_1473del (p.Ser491del) c.1078_1080del (p.Ser360del) | COSMIC |
4 | g.186210538C>A | CA358950925 | CYP4V2,KLKB1 | c.1475C>A (p.Ser492Tyr) n.710C>A n.6173C>A c.201+1266C>A n.565C>A c.1472C>A (p.Ser491Tyr) c.1079C>A (p.Ser360Tyr) | |
4 | g.186210538C>G | CA358950928 | CYP4V2,KLKB1 | c.1475C>G (p.Ser492Cys) n.710C>G n.6173C>G c.201+1266C>G n.565C>G c.1472C>G (p.Ser491Cys) c.1079C>G (p.Ser360Cys) | |
4 | g.186210538C>T | CA358950930 | CYP4V2,KLKB1 | c.1475C>T (p.Ser492Phe) n.710C>T n.6173C>T c.201+1266C>T n.565C>T c.1472C>T (p.Ser491Phe) c.1079C>T (p.Ser360Phe) | |
4 | g.186210539C>A | CA442641206 | CYP4V2,KLKB1 | c.1476C>A (p.Ser492=) n.711C>A n.6174C>A c.201+1267C>A n.566C>A c.1473C>A (p.Ser491=) c.1080C>A (p.Ser360=) | |
4 | g.186210539C>G | CA442641207 | CYP4V2,KLKB1 | c.1476C>G (p.Ser492=) n.711C>G n.6174C>G c.201+1267C>G n.566C>G c.1473C>G (p.Ser491=) c.1080C>G (p.Ser360=) | |
4 | g.186210539C>T | CA442641208 | CYP4V2,KLKB1 | c.1476C>T (p.Ser492=) n.711C>T n.6174C>T c.201+1267C>T n.566C>T c.1473C>T (p.Ser491=) c.1080C>T (p.Ser360=) | |
4 | g.186210540A>C | CA358950932 | CYP4V2,KLKB1 | c.1477A>C (p.Asn493His) n.712A>C n.6175A>C c.201+1268A>C n.567A>C c.1474A>C (p.Asn492His) c.1081A>C (p.Asn361His) | gnomAD v4 |
4 | g.186210540A>G | CA358950934 | CYP4V2,KLKB1 | c.1477A>G (p.Asn493Asp) n.712A>G n.6175A>G c.201+1268A>G n.567A>G c.1474A>G (p.Asn492Asp) c.1081A>G (p.Asn361Asp) | |
4 | g.186210540A>T | CA358950933 | CYP4V2,KLKB1 | c.1477A>T (p.Asn493Tyr) n.712A>T n.6175A>T c.201+1268A>T n.567A>T c.1474A>T (p.Asn492Tyr) c.1081A>T (p.Asn361Tyr) | |
4 | g.186210541A= | CA1519892077 | CYP4V2,KLKB1 | c.1478A= (p.Asn493=) n.713A= n.6176A= c.201+1269A= n.568A= c.1475A= (p.Asn492=) c.1082A= (p.Asn361=) | |
4 | g.186210541A>C | CA358950935 | CYP4V2,KLKB1 | c.1478A>C (p.Asn493Thr) n.713A>C n.6176A>C c.201+1269A>C n.568A>C c.1475A>C (p.Asn492Thr) c.1082A>C (p.Asn361Thr) | |
4 | g.186210541A>G | CA3162875 | CYP4V2,KLKB1 | c.1478A>G (p.Asn493Ser) n.713A>G n.6176A>G c.201+1269A>G n.568A>G c.1475A>G (p.Asn492Ser) c.1082A>G (p.Asn361Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210541A>T | CA358950937 | CYP4V2,KLKB1 | c.1478A>T (p.Asn493Ile) n.713A>T n.6176A>T c.201+1269A>T n.568A>T c.1475A>T (p.Asn492Ile) c.1082A>T (p.Asn361Ile) | |
4 | g.186210542C>A | CA358950939 | CYP4V2,KLKB1 | c.1479C>A (p.Asn493Lys) n.714C>A n.6177C>A c.201+1270C>A n.569C>A c.1476C>A (p.Asn492Lys) c.1083C>A (p.Asn361Lys) | |
4 | g.186210542C= | CA1519892078 | CYP4V2,KLKB1 | c.1479C= (p.Asn493=) n.714C= n.6177C= c.201+1270C= n.569C= c.1476C= (p.Asn492=) c.1083C= (p.Asn361=) | |
4 | g.186210542C>G | CA358950940 | CYP4V2,KLKB1 | c.1479C>G (p.Asn493Lys) n.714C>G n.6177C>G c.201+1270C>G n.569C>G c.1476C>G (p.Asn492Lys) c.1083C>G (p.Asn361Lys) | |
4 | g.186210542C>T | CA233874 | CYP4V2,KLKB1 | c.1479C>T (p.Asn493=) n.714C>T n.6177C>T c.201+1270C>T n.569C>T c.1476C>T (p.Asn492=) c.1083C>T (p.Asn361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210543C>A | CA358950944 | CYP4V2,KLKB1 | c.1480C>A (p.Gln494Lys) n.715C>A n.6178C>A c.201+1271C>A n.570C>A c.1477C>A (p.Gln493Lys) c.1084C>A (p.Gln362Lys) | |
4 | g.186210543C= | CA1519892079 | CYP4V2,KLKB1 | c.1480C= (p.Gln494=) n.715C= n.6178C= c.201+1271C= n.570C= c.1477C= (p.Gln493=) c.1084C= (p.Gln362=) | |
4 | g.186210543C>G | CA358950945 | CYP4V2,KLKB1 | c.1480C>G (p.Gln494Glu) n.715C>G n.6178C>G c.201+1271C>G n.570C>G c.1477C>G (p.Gln493Glu) c.1084C>G (p.Gln362Glu) | dbSNP gnomAD v4 |
4 | g.186210543C>T | CA358950947 | CYP4V2,KLKB1 | c.1480C>T (p.Gln494Ter) n.715C>T n.6178C>T c.201+1271C>T n.570C>T c.1477C>T (p.Gln493Ter) c.1084C>T (p.Gln362Ter) | ClinVar |
4 | g.186210544A= | CA1519892080 | CYP4V2,KLKB1 | c.1481A= (p.Gln494=) n.716A= n.6179A= c.201+1272A= n.571A= c.1478A= (p.Gln493=) c.1085A= (p.Gln362=) | |
4 | g.186210544A>C | CA358950953 | CYP4V2,KLKB1 | c.1481A>C (p.Gln494Pro) n.716A>C n.6179A>C c.201+1272A>C n.571A>C c.1478A>C (p.Gln493Pro) c.1085A>C (p.Gln362Pro) | |
4 | g.186210544A>G | CA358950951 | CYP4V2,KLKB1 | c.1481A>G (p.Gln494Arg) n.716A>G n.6179A>G c.201+1272A>G n.571A>G c.1478A>G (p.Gln493Arg) c.1085A>G (p.Gln362Arg) | dbSNP |
4 | g.186210544A>T | CA358950949 | CYP4V2,KLKB1 | c.1481A>T (p.Gln494Leu) n.716A>T n.6179A>T c.201+1272A>T n.571A>T c.1478A>T (p.Gln493Leu) c.1085A>T (p.Gln362Leu) | |
4 | g.186210545G>A | CA442641209 | CYP4V2,KLKB1 | c.1482G>A (p.Gln494=) n.717G>A n.6180G>A c.201+1273G>A n.572G>A c.1479G>A (p.Gln493=) c.1086G>A (p.Gln362=) | |
4 | g.186210545G>C | CA358950955 | CYP4V2,KLKB1 | c.1482G>C (p.Gln494His) n.717G>C n.6180G>C c.201+1273G>C n.572G>C c.1479G>C (p.Gln493His) c.1086G>C (p.Gln362His) | |
4 | g.186210545G>T | CA358950957 | CYP4V2,KLKB1 | c.1482G>T (p.Gln494His) n.717G>T n.6180G>T c.201+1273G>T n.572G>T c.1479G>T (p.Gln493His) c.1086G>T (p.Gln362His) | |
4 | g.186210546A>C | CA358950961 | CYP4V2,KLKB1 | c.1483A>C (p.Lys495Gln) n.718A>C n.6181A>C c.201+1274A>C n.573A>C c.1480A>C (p.Lys494Gln) c.1087A>C (p.Lys363Gln) | |
4 | g.186210546A>G | CA358950963 | CYP4V2,KLKB1 | c.1483A>G (p.Lys495Glu) n.718A>G n.6181A>G c.201+1274A>G n.573A>G c.1480A>G (p.Lys494Glu) c.1087A>G (p.Lys363Glu) | |
4 | g.186210546A>T | CA358950965 | CYP4V2,KLKB1 | c.1483A>T (p.Lys495Ter) n.718A>T n.6181A>T c.201+1274A>T n.573A>T c.1480A>T (p.Lys494Ter) c.1087A>T (p.Lys363Ter) | |
4 | g.186210547A>C | CA358950966 | CYP4V2,KLKB1 | c.1484A>C (p.Lys495Thr) n.719A>C n.6182A>C c.201+1275A>C n.574A>C c.1481A>C (p.Lys494Thr) c.1088A>C (p.Lys363Thr) | |
4 | g.186210547A>G | CA358950968 | CYP4V2,KLKB1 | c.1484A>G (p.Lys495Arg) n.719A>G n.6182A>G c.201+1275A>G n.574A>G c.1481A>G (p.Lys494Arg) c.1088A>G (p.Lys363Arg) | |
4 | g.186210547A>T | CA358950970 | CYP4V2,KLKB1 | c.1484A>T (p.Lys495Ile) n.719A>T n.6182A>T c.201+1275A>T n.574A>T c.1481A>T (p.Lys494Ile) c.1088A>T (p.Lys363Ile) | |
4 | g.186210548A>C | CA358950972 | CYP4V2,KLKB1 | c.1485A>C (p.Lys495Asn) n.720A>C n.6183A>C c.201+1276A>C n.575A>C c.1482A>C (p.Lys494Asn) c.1089A>C (p.Lys363Asn) | |
4 | g.186210548A>G | CA442641210 | CYP4V2,KLKB1 | c.1485A>G (p.Lys495=) n.720A>G n.6183A>G c.201+1276A>G n.575A>G c.1482A>G (p.Lys494=) c.1089A>G (p.Lys363=) | gnomAD v4 |
4 | g.186210548A>T | CA358950974 | CYP4V2,KLKB1 | c.1485A>T (p.Lys495Asn) n.720A>T n.6183A>T c.201+1276A>T n.575A>T c.1482A>T (p.Lys494Asn) c.1089A>T (p.Lys363Asn) | |
4 | g.186210549A= | CA1519892081 | CYP4V2,KLKB1 | c.1486A= (p.Arg496=) n.721A= n.6184A= c.201+1277A= n.576A= c.1483A= (p.Arg495=) c.1090A= (p.Arg364=) | |
4 | g.186210549A>C | CA442641211 | CYP4V2,KLKB1 | c.1486A>C (p.Arg496=) n.721A>C n.6184A>C c.201+1277A>C n.576A>C c.1483A>C (p.Arg495=) c.1090A>C (p.Arg364=) | |
4 | g.186210549A>G | CA358950979 | CYP4V2,KLKB1 | c.1486A>G (p.Arg496Gly) n.721A>G n.6184A>G c.201+1277A>G n.576A>G c.1483A>G (p.Arg495Gly) c.1090A>G (p.Arg364Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186210549A>T | CA358950980 | CYP4V2,KLKB1 | c.1486A>T (p.Arg496Ter) n.721A>T n.6184A>T c.201+1277A>T n.576A>T c.1483A>T (p.Arg495Ter) c.1090A>T (p.Arg364Ter) | |
4 | g.186210550G>A | CA3162876 | CYP4V2,KLKB1 | c.1487G>A (p.Arg496Lys) n.722G>A n.6185G>A c.201+1278G>A n.577G>A c.1484G>A (p.Arg495Lys) c.1091G>A (p.Arg364Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210550G>C | CA358950982 | CYP4V2,KLKB1 | c.1487G>C (p.Arg496Thr) n.722G>C n.6185G>C c.201+1278G>C n.577G>C c.1484G>C (p.Arg495Thr) c.1091G>C (p.Arg364Thr) | |
4 | g.186210550G= | CA1519892082 | CYP4V2,KLKB1 | c.1487G= (p.Arg496=) n.722G= n.6185G= c.201+1278G= n.577G= c.1484G= (p.Arg495=) c.1091G= (p.Arg364=) | |
4 | g.186210550G>T | CA358950983 | CYP4V2,KLKB1 | c.1487G>T (p.Arg496Ile) n.722G>T n.6185G>T c.201+1278G>T n.577G>T c.1484G>T (p.Arg495Ile) c.1091G>T (p.Arg364Ile) | |
4 | g.186210551A= | CA1519892083 | CYP4V2,KLKB1 | c.1488A= (p.Arg496=) n.723A= n.6186A= c.201+1279A= n.578A= c.1485A= (p.Arg495=) c.1092A= (p.Arg364=) | |
4 | g.186210551A>C | CA358950987 | CYP4V2,KLKB1 | c.1488A>C (p.Arg496Ser) n.723A>C n.6186A>C c.201+1279A>C n.578A>C c.1485A>C (p.Arg495Ser) c.1092A>C (p.Arg364Ser) | |
4 | g.186210551A>G | CA3162877 | CYP4V2,KLKB1 | c.1488A>G (p.Arg496=) n.723A>G n.6186A>G c.201+1279A>G n.578A>G c.1485A>G (p.Arg495=) c.1092A>G (p.Arg364=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210551A>T | CA358950991 | CYP4V2,KLKB1 | c.1488A>T (p.Arg496Ser) n.723A>T n.6186A>T c.201+1279A>T n.578A>T c.1485A>T (p.Arg495Ser) c.1092A>T (p.Arg364Ser) | |
4 | g.186210552G>A | CA358950993 | CYP4V2,KLKB1 | c.1489G>A (p.Glu497Lys) n.724G>A n.6187G>A c.201+1280G>A n.579G>A c.1486G>A (p.Glu496Lys) c.1093G>A (p.Glu365Lys) | |
4 | g.186210552G>C | CA358950995 | CYP4V2,KLKB1 | c.1489G>C (p.Glu497Gln) n.724G>C n.6187G>C c.201+1280G>C n.579G>C c.1486G>C (p.Glu496Gln) c.1093G>C (p.Glu365Gln) | |
4 | g.186210552G>T | CA358950997 | CYP4V2,KLKB1 | c.1489G>T (p.Glu497Ter) n.724G>T n.6187G>T c.201+1280G>T n.579G>T c.1486G>T (p.Glu496Ter) c.1093G>T (p.Glu365Ter) | |
4 | g.186210553A>C | CA358950999 | CYP4V2,KLKB1 | c.1490A>C (p.Glu497Ala) n.725A>C n.6188A>C c.201+1281A>C n.580A>C c.1487A>C (p.Glu496Ala) c.1094A>C (p.Glu365Ala) | |
4 | g.186210553A>G | CA358951000 | CYP4V2,KLKB1 | c.1490A>G (p.Glu497Gly) n.725A>G n.6188A>G c.201+1281A>G n.580A>G c.1487A>G (p.Glu496Gly) c.1094A>G (p.Glu365Gly) | |
4 | g.186210553A>T | CA358951001 | CYP4V2,KLKB1 | c.1490A>T (p.Glu497Val) n.725A>T n.6188A>T c.201+1281A>T n.580A>T c.1487A>T (p.Glu496Val) c.1094A>T (p.Glu365Val) | |
4 | g.186210554A= | CA1519892084 | CYP4V2,KLKB1 | c.1491A= (p.Glu497=) n.726A= n.6189A= c.201+1282A= n.581A= c.1488A= (p.Glu496=) c.1095A= (p.Glu365=) | |
4 | g.186210554A>C | CA358951002 | CYP4V2,KLKB1 | c.1491A>C (p.Glu497Asp) n.726A>C n.6189A>C c.201+1282A>C n.581A>C c.1488A>C (p.Glu496Asp) c.1095A>C (p.Glu365Asp) | |
4 | g.186210554A>G | CA442641213 | CYP4V2,KLKB1 | c.1491A>G (p.Glu497=) n.726A>G n.6189A>G c.201+1282A>G n.581A>G c.1488A>G (p.Glu496=) c.1095A>G (p.Glu365=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210554A>T | CA358951003 | CYP4V2,KLKB1 | c.1491A>T (p.Glu497Asp) n.726A>T n.6189A>T c.201+1282A>T n.581A>T c.1488A>T (p.Glu496Asp) c.1095A>T (p.Glu365Asp) | |
4 | g.186210555G>A | CA358951007 | CYP4V2,KLKB1 | c.1492G>A (p.Glu498Lys) n.727G>A n.6190G>A c.201+1283G>A n.582G>A c.1489G>A (p.Glu497Lys) c.1096G>A (p.Glu366Lys) | |
4 | g.186210555G>C | CA3162878 | CYP4V2,KLKB1 | c.1492G>C (p.Glu498Gln) n.727G>C n.6190G>C c.201+1283G>C n.582G>C c.1489G>C (p.Glu497Gln) c.1096G>C (p.Glu366Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210555G= | CA1519892085 | CYP4V2,KLKB1 | c.1492G= (p.Glu498=) n.727G= n.6190G= c.201+1283G= n.582G= c.1489G= (p.Glu497=) c.1096G= (p.Glu366=) | |
4 | g.186210555G>T | CA358951004 | CYP4V2,KLKB1 | c.1492G>T (p.Glu498Ter) n.727G>T n.6190G>T c.201+1283G>T n.582G>T c.1489G>T (p.Glu497Ter) c.1096G>T (p.Glu366Ter) | |
4 | g.186210556A= | CA1519892086 | CYP4V2,KLKB1 | c.1493A= (p.Glu498=) n.728A= n.6191A= c.201+1284A= n.583A= c.1490A= (p.Glu497=) c.1097A= (p.Glu366=) | |
4 | g.186210556A>C | CA3162879 | CYP4V2,KLKB1 | c.1493A>C (p.Glu498Ala) n.728A>C n.6191A>C c.201+1284A>C n.583A>C c.1490A>C (p.Glu497Ala) c.1097A>C (p.Glu366Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210556A>G | CA3162880 | CYP4V2,KLKB1 | c.1493A>G (p.Glu498Gly) n.728A>G n.6191A>G c.201+1284A>G n.583A>G c.1490A>G (p.Glu497Gly) c.1097A>G (p.Glu366Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210556A>T | CA358951009 | CYP4V2,KLKB1 | c.1493A>T (p.Glu498Val) n.728A>T n.6191A>T c.201+1284A>T n.583A>T c.1490A>T (p.Glu497Val) c.1097A>T (p.Glu366Val) | |
4 | g.186210557G>A | CA442641214 | CYP4V2,KLKB1 | c.1494G>A (p.Glu498=) n.729G>A n.6192G>A c.201+1285G>A n.584G>A c.1491G>A (p.Glu497=) c.1098G>A (p.Glu366=) | |
4 | g.186210557G>C | CA358951011 | CYP4V2,KLKB1 | c.1494G>C (p.Glu498Asp) n.729G>C n.6192G>C c.201+1285G>C n.584G>C c.1491G>C (p.Glu497Asp) c.1098G>C (p.Glu366Asp) | |
4 | g.186210557G>T | CA358951013 | CYP4V2,KLKB1 | c.1494G>T (p.Glu498Asp) n.729G>T n.6192G>T c.201+1285G>T n.584G>T c.1491G>T (p.Glu497Asp) c.1098G>T (p.Glu366Asp) | |
4 | g.186210558C>A | CA358951016 | CYP4V2,KLKB1 | c.1495C>A (p.Leu499Ile) n.730C>A n.6193C>A c.201+1286C>A n.585C>A c.1492C>A (p.Leu498Ile) c.1099C>A (p.Leu367Ile) | |
4 | g.186210558C= | CA1519892087 | CYP4V2,KLKB1 | c.1495C= (p.Leu499=) n.730C= n.6193C= c.201+1286C= n.585C= c.1492C= (p.Leu498=) c.1099C= (p.Leu367=) | |
4 | g.186210558C>G | CA358951019 | CYP4V2,KLKB1 | c.1495C>G (p.Leu499Val) n.730C>G n.6193C>G c.201+1286C>G n.585C>G c.1492C>G (p.Leu498Val) c.1099C>G (p.Leu367Val) | gnomAD v4 |
4 | g.186210558C>T | CA3162881 | CYP4V2,KLKB1 | c.1495C>T (p.Leu499Phe) n.730C>T n.6193C>T c.201+1286C>T n.585C>T c.1492C>T (p.Leu498Phe) c.1099C>T (p.Leu367Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210559T>A | CA358951023 | CYP4V2,KLKB1 | c.1496T>A (p.Leu499His) n.731T>A n.6194T>A c.201+1287T>A n.586T>A c.1493T>A (p.Leu498His) c.1100T>A (p.Leu367His) | |
4 | g.186210559T>C | CA358951025 | CYP4V2,KLKB1 | c.1496T>C (p.Leu499Pro) n.731T>C n.6194T>C c.201+1287T>C n.586T>C c.1493T>C (p.Leu498Pro) c.1100T>C (p.Leu367Pro) | dbSNP gnomAD v4 |
4 | g.186210559T>G | CA358951027 | CYP4V2,KLKB1 | c.1496T>G (p.Leu499Arg) n.731T>G n.6194T>G c.201+1287T>G n.586T>G c.1493T>G (p.Leu498Arg) c.1100T>G (p.Leu367Arg) | gnomAD v4 |
4 | g.186210559T= | CA1519892088 | CYP4V2,KLKB1 | c.1496T= (p.Leu499=) n.731T= n.6194T= c.201+1287T= n.586T= c.1493T= (p.Leu498=) c.1100T= (p.Leu367=) | |
4 | g.186210560T>A | CA442641216 | CYP4V2,KLKB1 | c.1497T>A (p.Leu499=) n.732T>A n.6195T>A c.201+1288T>A n.587T>A c.1494T>A (p.Leu498=) c.1101T>A (p.Leu367=) | |
4 | g.186210560T>C | CA442641217 | CYP4V2,KLKB1 | c.1497T>C (p.Leu499=) n.732T>C n.6195T>C c.201+1288T>C n.587T>C c.1494T>C (p.Leu498=) c.1101T>C (p.Leu367=) | |
4 | g.186210560T>G | CA442641218 | CYP4V2,KLKB1 | c.1497T>G (p.Leu499=) n.732T>G n.6195T>G c.201+1288T>G n.587T>G c.1494T>G (p.Leu498=) c.1101T>G (p.Leu367=) | |
4 | g.186210561G>A | CA358951030 | CYP4V2,KLKB1 | c.1498G>A (p.Gly500Ser) n.733G>A n.6196G>A c.201+1289G>A n.588G>A c.1495G>A (p.Gly499Ser) c.1102G>A (p.Gly368Ser) | |
4 | g.186210561G>C | CA358951032 | CYP4V2,KLKB1 | c.1498G>C (p.Gly500Arg) n.733G>C n.6196G>C c.201+1289G>C n.588G>C c.1495G>C (p.Gly499Arg) c.1102G>C (p.Gly368Arg) | |
4 | g.186210561G>T | CA358951034 | CYP4V2,KLKB1 | c.1498G>T (p.Gly500Cys) n.733G>T n.6196G>T c.201+1289G>T n.588G>T c.1495G>T (p.Gly499Cys) c.1102G>T (p.Gly368Cys) | |
4 | g.186210562G>A | CA358951041 | CYP4V2,KLKB1 | c.1499G>A (p.Gly500Asp) n.734G>A n.6197G>A c.201+1290G>A n.589G>A c.1496G>A (p.Gly499Asp) c.1103G>A (p.Gly368Asp) | |
4 | g.186210562G>C | CA358951039 | CYP4V2,KLKB1 | c.1499G>C (p.Gly500Ala) n.734G>C n.6197G>C c.201+1290G>C n.589G>C c.1496G>C (p.Gly499Ala) c.1103G>C (p.Gly368Ala) | |
4 | g.186210562G>T | CA358951036 | CYP4V2,KLKB1 | c.1499G>T (p.Gly500Val) n.734G>T n.6197G>T c.201+1290G>T n.589G>T c.1496G>T (p.Gly499Val) c.1103G>T (p.Gly368Val) | |
4 | g.186210563T>A | CA442641221 | CYP4V2,KLKB1 | c.1500T>A (p.Gly500=) n.735T>A n.6198T>A c.201+1291T>A n.590T>A c.1497T>A (p.Gly499=) c.1104T>A (p.Gly368=) | |
4 | g.186210563T>C | CA442641219 | CYP4V2,KLKB1 | c.1500T>C (p.Gly500=) n.735T>C n.6198T>C c.201+1291T>C n.590T>C c.1497T>C (p.Gly499=) c.1104T>C (p.Gly368=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186210563T>G | CA442641220 | CYP4V2,KLKB1 | c.1500T>G (p.Gly500=) n.735T>G n.6198T>G c.201+1291T>G n.590T>G c.1497T>G (p.Gly499=) c.1104T>G (p.Gly368=) | |
4 | g.186210563T= | CA1519892089 | CYP4V2,KLKB1 | c.1500T= (p.Gly500=) n.735T= n.6198T= c.201+1291T= n.590T= c.1497T= (p.Gly499=) c.1104T= (p.Gly368=) | |
4 | g.186210564C>A | CA358951044 | CYP4V2,KLKB1 | c.1501C>A (p.Leu501Ile) n.736C>A n.6199C>A c.201+1292C>A n.591C>A c.1498C>A (p.Leu500Ile) c.1105C>A (p.Leu369Ile) | |
4 | g.186210564C= | CA1519892090 | CYP4V2,KLKB1 | c.1501C= (p.Leu501=) n.736C= n.6199C= c.201+1292C= n.591C= c.1498C= (p.Leu500=) c.1105C= (p.Leu369=) | |
4 | g.186210564C>G | CA358951045 | CYP4V2,KLKB1 | c.1501C>G (p.Leu501Val) n.736C>G n.6199C>G c.201+1292C>G n.591C>G c.1498C>G (p.Leu500Val) c.1105C>G (p.Leu369Val) | ClinVar dbSNP gnomAD v4 |
4 | g.186210564C>T | CA442641222 | CYP4V2,KLKB1 | c.1501C>T (p.Leu501=) n.736C>T n.6199C>T c.201+1292C>T n.591C>T c.1498C>T (p.Leu500=) c.1105C>T (p.Leu369=) | dbSNP |
4 | g.186210565T>A | CA358951048 | CYP4V2,KLKB1 | c.1502T>A (p.Leu501Gln) n.737T>A n.6200T>A c.201+1293T>A n.592T>A c.1499T>A (p.Leu500Gln) c.1106T>A (p.Leu369Gln) | |
4 | g.186210565T>C | CA358951051 | CYP4V2,KLKB1 | c.1502T>C (p.Leu501Pro) n.737T>C n.6200T>C c.201+1293T>C n.592T>C c.1499T>C (p.Leu500Pro) c.1106T>C (p.Leu369Pro) | gnomAD v4 |
4 | g.186210565T>G | CA358951053 | CYP4V2,KLKB1 | c.1502T>G (p.Leu501Arg) n.737T>G n.6200T>G c.201+1293T>G n.592T>G c.1499T>G (p.Leu500Arg) c.1106T>G (p.Leu369Arg) | |
4 | g.186210566A= | CA1519892091 | CYP4V2,KLKB1 | c.1503A= (p.Leu501=) n.738A= n.6201A= c.201+1294A= n.593A= c.1500A= (p.Leu500=) c.1107A= (p.Leu369=) | |
4 | g.186210566A>C | CA442641223 | CYP4V2,KLKB1 | c.1503A>C (p.Leu501=) n.738A>C n.6201A>C c.201+1294A>C n.593A>C c.1500A>C (p.Leu500=) c.1107A>C (p.Leu369=) | |
4 | g.186210566A>G | CA3162882 | CYP4V2,KLKB1 | c.1503A>G (p.Leu501=) n.738A>G n.6201A>G c.201+1294A>G n.593A>G c.1500A>G (p.Leu500=) c.1107A>G (p.Leu369=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210566A>T | CA442641225 | CYP4V2,KLKB1 | c.1503A>T (p.Leu501=) n.738A>T n.6201A>T c.201+1294A>T n.593A>T c.1500A>T (p.Leu500=) c.1107A>T (p.Leu369=) | COSMIC |
4 | g.186210567G>A | CA358951057 | CYP4V2,KLKB1 | c.1504G>A (p.Glu502Lys) n.739G>A n.6202G>A c.201+1295G>A n.594G>A c.1501G>A (p.Glu501Lys) c.1108G>A (p.Glu370Lys) | |
4 | g.186210567G>C | CA358951064 | CYP4V2,KLKB1 | c.1504G>C (p.Glu502Gln) n.739G>C n.6202G>C c.201+1295G>C n.594G>C c.1501G>C (p.Glu501Gln) c.1108G>C (p.Glu370Gln) | |
4 | g.186210567G>T | CA358951066 | CYP4V2,KLKB1 | c.1504G>T (p.Glu502Ter) n.739G>T n.6202G>T c.201+1295G>T n.594G>T c.1501G>T (p.Glu501Ter) c.1108G>T (p.Glu370Ter) | |
4 | g.186210568A= | CA1519892092 | CYP4V2,KLKB1 | c.1505A= (p.Glu502=) n.740A= n.6203A= c.201+1296A= n.595A= c.1502A= (p.Glu501=) c.1109A= (p.Glu370=) | |
4 | g.186210568A>C | CA358951067 | CYP4V2,KLKB1 | c.1505A>C (p.Glu502Ala) n.740A>C n.6203A>C c.201+1296A>C n.595A>C c.1502A>C (p.Glu501Ala) c.1109A>C (p.Glu370Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210568A>G | CA358951069 | CYP4V2,KLKB1 | c.1505A>G (p.Glu502Gly) n.740A>G n.6203A>G c.201+1296A>G n.595A>G c.1502A>G (p.Glu501Gly) c.1109A>G (p.Glu370Gly) | |
4 | g.186210568A>T | CA358951071 | CYP4V2,KLKB1 | c.1505A>T (p.Glu502Val) n.740A>T n.6203A>T c.201+1296A>T n.595A>T c.1502A>T (p.Glu501Val) c.1109A>T (p.Glu370Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186210569del | CA2672898234 | CYP4V2,KLKB1 | c.1506del (p.Gly503AspfsTer3) n.741del n.6204del c.201+1297del n.596del c.1503del (p.Gly502AspfsTer3) c.1110del (p.Gly371AspfsTer3) | gnomAD v4 |
4 | g.186210569A>C | CA358951074 | CYP4V2,KLKB1 | c.1506A>C (p.Glu502Asp) n.741A>C n.6204A>C c.201+1297A>C n.596A>C c.1503A>C (p.Glu501Asp) c.1110A>C (p.Glu370Asp) | |
4 | g.186210569A>G | CA442641227 | CYP4V2,KLKB1 | c.1506A>G (p.Glu502=) n.741A>G n.6204A>G c.201+1297A>G n.596A>G c.1503A>G (p.Glu501=) c.1110A>G (p.Glu370=) | |
4 | g.186210569A>T | CA358951076 | CYP4V2,KLKB1 | c.1506A>T (p.Glu502Asp) n.741A>T n.6204A>T c.201+1297A>T n.596A>T c.1503A>T (p.Glu501Asp) c.1110A>T (p.Glu370Asp) | |
4 | g.186210570G>A | CA358951079 | CYP4V2,KLKB1 | c.1507G>A (p.Gly503Arg) n.742G>A n.6205G>A c.201+1298G>A n.597G>A c.1504G>A (p.Gly502Arg) c.1111G>A (p.Gly371Arg) | |
4 | g.186210570G>C | CA3162883 | CYP4V2,KLKB1 | c.1507G>C (p.Gly503Arg) n.742G>C n.6205G>C c.201+1298G>C n.597G>C c.1504G>C (p.Gly502Arg) c.1111G>C (p.Gly371Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210570G= | CA1519892093 | CYP4V2,KLKB1 | c.1507G= (p.Gly503=) n.742G= n.6205G= c.201+1298G= n.597G= c.1504G= (p.Gly502=) c.1111G= (p.Gly371=) | |
4 | g.186210570G>T | CA358951083 | CYP4V2,KLKB1 | c.1507G>T (p.Gly503Ter) n.742G>T n.6205G>T c.201+1298G>T n.597G>T c.1504G>T (p.Gly502Ter) c.1111G>T (p.Gly371Ter) | |
4 | g.186210571G>A | CA358951086 | CYP4V2,KLKB1 | c.1508G>A (p.Gly503Glu) n.743G>A n.6206G>A c.201+1299G>A n.598G>A c.1505G>A (p.Gly502Glu) c.1112G>A (p.Gly371Glu) | |
4 | g.186210571G>C | CA358951089 | CYP4V2,KLKB1 | c.1508G>C (p.Gly503Ala) n.743G>C n.6206G>C c.201+1299G>C n.598G>C c.1505G>C (p.Gly502Ala) c.1112G>C (p.Gly371Ala) | |
4 | g.186210571G>T | CA358951091 | CYP4V2,KLKB1 | c.1508G>T (p.Gly503Val) n.743G>T n.6206G>T c.201+1299G>T n.598G>T c.1505G>T (p.Gly502Val) c.1112G>T (p.Gly371Val) | |
4 | g.186210572A>C | CA442641228 | CYP4V2,KLKB1 | c.1509A>C (p.Gly503=) n.744A>C n.6207A>C c.201+1300A>C n.599A>C c.1506A>C (p.Gly502=) c.1113A>C (p.Gly371=) | |
4 | g.186210572A>G | CA442641229 | CYP4V2,KLKB1 | c.1509A>G (p.Gly503=) n.744A>G n.6207A>G c.201+1300A>G n.599A>G c.1506A>G (p.Gly502=) c.1113A>G (p.Gly371=) | |
4 | g.186210572A>T | CA442641230 | CYP4V2,KLKB1 | c.1509A>T (p.Gly503=) n.744A>T n.6207A>T c.201+1300A>T n.599A>T c.1506A>T (p.Gly502=) c.1113A>T (p.Gly371=) | |
4 | g.186210573C>A | CA358951094 | CYP4V2,KLKB1 | c.1510C>A (p.Gln504Lys) n.745C>A n.6208C>A c.201+1301C>A n.600C>A c.1507C>A (p.Gln503Lys) c.1114C>A (p.Gln372Lys) | |
4 | g.186210573C= | CA1519892094 | CYP4V2,KLKB1 | c.1510C= (p.Gln504=) n.745C= n.6208C= c.201+1301C= n.600C= c.1507C= (p.Gln503=) c.1114C= (p.Gln372=) | |
4 | g.186210573C>G | CA358951096 | CYP4V2,KLKB1 | c.1510C>G (p.Gln504Glu) n.745C>G n.6208C>G c.201+1301C>G n.600C>G c.1507C>G (p.Gln503Glu) c.1114C>G (p.Gln372Glu) | |
4 | g.186210573C>T | CA358951098 | CYP4V2,KLKB1 | c.1510C>T (p.Gln504Ter) n.745C>T n.6208C>T c.201+1301C>T n.600C>T c.1507C>T (p.Gln503Ter) c.1114C>T (p.Gln372Ter) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210574A= | CA1519892095 | CYP4V2,KLKB1 | c.1511A= (p.Gln504=) n.746A= n.6209A= c.201+1302A= n.601A= c.1508A= (p.Gln503=) c.1115A= (p.Gln372=) | |
4 | g.186210574A>C | CA358951101 | CYP4V2,KLKB1 | c.1511A>C (p.Gln504Pro) n.746A>C n.6209A>C c.201+1302A>C n.601A>C c.1508A>C (p.Gln503Pro) c.1115A>C (p.Gln372Pro) | |
4 | g.186210574A>G | CA112136615 | CYP4V2,KLKB1 | c.1511A>G (p.Gln504Arg) n.746A>G n.6209A>G c.201+1302A>G n.601A>G c.1508A>G (p.Gln503Arg) c.1115A>G (p.Gln372Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186210574A>T | CA358951104 | CYP4V2,KLKB1 | c.1511A>T (p.Gln504Leu) n.746A>T n.6209A>T c.201+1302A>T n.601A>T c.1508A>T (p.Gln503Leu) c.1115A>T (p.Gln372Leu) | gnomAD v4 |
4 | g.186210575G>A | CA3162885 | CYP4V2,KLKB1 | c.1512G>A (p.Gln504=) n.747G>A n.6210G>A c.201+1303G>A n.602G>A c.1509G>A (p.Gln503=) c.1116G>A (p.Gln372=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186210575G>C | CA358951108 | CYP4V2,KLKB1 | c.1512G>C (p.Gln504His) n.747G>C n.6210G>C c.201+1303G>C n.602G>C c.1509G>C (p.Gln503His) c.1116G>C (p.Gln372His) | |
4 | g.186210575G= | CA1519892096 | CYP4V2,KLKB1 | c.1512G= (p.Gln504=) n.747G= n.6210G= c.201+1303G= n.602G= c.1509G= (p.Gln503=) c.1116G= (p.Gln372=) | |
4 | g.186210575G>T | CA358951110 | CYP4V2,KLKB1 | c.1512G>T (p.Gln504His) n.747G>T n.6210G>T c.201+1303G>T n.602G>T c.1509G>T (p.Gln503His) c.1116G>T (p.Gln372His) | |
4 | g.186210575_186210576delinsGT | CA1519892097 | CYP4V2,KLKB1 | c.1512_1513delinsGT (p.Gln504=) n.747_748delinsGT n.6210_6211delinsGT c.201+1303_201+1304delinsGT n.602_603delinsGT c.1509_1510delinsGT (p.Gln503=) c.1116_1117delinsGT (p.Gln372=) | |
4 | g.186210576T>A | CA358951113 | CYP4V2,KLKB1 | c.1513T>A (p.Leu505Met) n.748T>A n.6211T>A c.201+1304T>A n.603T>A c.1510T>A (p.Leu504Met) c.1117T>A (p.Leu373Met) | |
4 | g.186210576T>C | CA442641231 | CYP4V2,KLKB1 | c.1513T>C (p.Leu505=) n.748T>C n.6211T>C c.201+1304T>C n.603T>C c.1510T>C (p.Leu504=) c.1117T>C (p.Leu373=) | ClinVar |
4 | g.186210576T>G | CA358951115 | CYP4V2,KLKB1 | c.1513T>G (p.Leu505Val) n.748T>G n.6211T>G c.201+1304T>G n.603T>G c.1510T>G (p.Leu504Val) c.1117T>G (p.Leu373Val) | |
4 | g.186210577del | CA3162884 | CYP4V2,KLKB1 | c.1514del (p.Leu505Ter) n.749del n.6212del c.201+1305del n.604del c.1511del (p.Leu504Ter) c.1118del (p.Leu373Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210577T>A | CA358951118 | CYP4V2,KLKB1 | c.1514T>A (p.Leu505Ter) n.749T>A n.6212T>A c.201+1305T>A n.604T>A c.1511T>A (p.Leu504Ter) c.1118T>A (p.Leu373Ter) | |
4 | g.186210577T>C | CA358951120 | CYP4V2,KLKB1 | c.1514T>C (p.Leu505Ser) n.749T>C n.6212T>C c.201+1305T>C n.604T>C c.1511T>C (p.Leu504Ser) c.1118T>C (p.Leu373Ser) | gnomAD v4 |
4 | g.186210577T>G | CA358951122 | CYP4V2,KLKB1 | c.1514T>G (p.Leu505Trp) n.749T>G n.6212T>G c.201+1305T>G n.604T>G c.1511T>G (p.Leu504Trp) c.1118T>G (p.Leu373Trp) | |
4 | g.186210578G>A | CA3162886 | CYP4V2,KLKB1 | c.1515G>A (p.Leu505=) n.750G>A n.6213G>A c.201+1306G>A n.605G>A c.1512G>A (p.Leu504=) c.1119G>A (p.Leu373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186210578G>C | CA358951125 | CYP4V2,KLKB1 | c.1515G>C (p.Leu505Phe) n.750G>C n.6213G>C c.201+1306G>C n.605G>C c.1512G>C (p.Leu504Phe) c.1119G>C (p.Leu373Phe) | |
4 | g.186210578G= | CA1519892098 | CYP4V2,KLKB1 | c.1515G= (p.Leu505=) n.750G= n.6213G= c.201+1306G= n.605G= c.1512G= (p.Leu504=) c.1119G= (p.Leu373=) | |
4 | g.186210578G>T | CA358951128 | CYP4V2,KLKB1 | c.1515G>T (p.Leu505Phe) n.750G>T n.6213G>T c.201+1306G>T n.605G>T c.1512G>T (p.Leu504Phe) c.1119G>T (p.Leu373Phe) | |
4 | g.186210579A= | CA1519892099 | CYP4V2,KLKB1 | c.1516A= (p.Ile506=) n.751A= n.6214A= c.201+1307A= n.606A= c.1513A= (p.Ile505=) c.1120A= (p.Ile374=) | |
4 | g.186210579A>C | CA358951130 | CYP4V2,KLKB1 | c.1516A>C (p.Ile506Leu) n.751A>C n.6214A>C c.201+1307A>C n.606A>C c.1513A>C (p.Ile505Leu) c.1120A>C (p.Ile374Leu) | dbSNP |
4 | g.186210579A>G | CA358951132 | CYP4V2,KLKB1 | c.1516A>G (p.Ile506Val) n.751A>G n.6214A>G c.201+1307A>G n.606A>G c.1513A>G (p.Ile505Val) c.1120A>G (p.Ile374Val) | |
4 | g.186210579A>T | CA358951134 | CYP4V2,KLKB1 | c.1516A>T (p.Ile506Phe) n.751A>T n.6214A>T c.201+1307A>T n.606A>T c.1513A>T (p.Ile505Phe) c.1120A>T (p.Ile374Phe) | |
4 | g.186210580T>A | CA358951138 | CYP4V2,KLKB1 | c.1517T>A (p.Ile506Asn) n.752T>A n.6215T>A c.201+1308T>A n.607T>A c.1514T>A (p.Ile505Asn) c.1121T>A (p.Ile374Asn) | |
4 | g.186210580T>C | CA358951141 | CYP4V2,KLKB1 | c.1517T>C (p.Ile506Thr) n.752T>C n.6215T>C c.201+1308T>C n.607T>C c.1514T>C (p.Ile505Thr) c.1121T>C (p.Ile374Thr) | |
4 | g.186210580T>G | CA358951136 | CYP4V2,KLKB1 | c.1517T>G (p.Ile506Ser) n.752T>G n.6215T>G c.201+1308T>G n.607T>G c.1514T>G (p.Ile505Ser) c.1121T>G (p.Ile374Ser) | |
4 | g.186210581T>A | CA442641232 | CYP4V2,KLKB1 | c.1518T>A (p.Ile506=) n.753T>A n.6216T>A c.201+1309T>A n.608T>A c.1515T>A (p.Ile505=) c.1122T>A (p.Ile374=) | |
4 | g.186210581T>C | CA442641233 | CYP4V2,KLKB1 | c.1518T>C (p.Ile506=) n.753T>C n.6216T>C c.201+1309T>C n.608T>C c.1515T>C (p.Ile505=) c.1122T>C (p.Ile374=) | |
4 | g.186210581T>G | CA358951144 | CYP4V2,KLKB1 | c.1518T>G (p.Ile506Met) n.753T>G n.6216T>G c.201+1309T>G n.608T>G c.1515T>G (p.Ile505Met) c.1122T>G (p.Ile374Met) |