Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.186236780G>A | CA358944669 | KLKB1 | c.329-1G>A (n.329-1G>A) c.215-1G>A (n.215-1G>A) n.359-1G>A c.472-1G>A c.-309-1G>A (n.-309-1G>A) | |
4 | g.186236780G>C | CA358944672 | KLKB1 | c.329-1G>C (n.329-1G>C) c.215-1G>C (n.215-1G>C) n.359-1G>C c.472-1G>C c.-309-1G>C (n.-309-1G>C) | |
4 | g.186236780G>T | CA358944674 | KLKB1 | c.329-1G>T (n.329-1G>T) c.215-1G>T (n.215-1G>T) n.359-1G>T c.472-1G>T c.-309-1G>T (n.-309-1G>T) | |
4 | g.186236781C>A | CA358944678 | KLKB1 | c.329C>A (p.Ala110Asp) c.215C>A (p.Ala72Asp) n.359C>A c.472C>A c.-309C>A (n.-309C>A) | |
4 | g.186236781C>G | CA358944680 | KLKB1 | c.329C>G (p.Ala110Gly) c.215C>G (p.Ala72Gly) n.359C>G c.472C>G c.-309C>G (n.-309C>G) | |
4 | g.186236781C>T | CA358944683 | KLKB1 | c.329C>T (p.Ala110Val) c.215C>T (p.Ala72Val) n.359C>T c.472C>T c.-309C>T (n.-309C>T) | gnomAD v4 |
4 | g.186236782T>A | CA442640154 | KLKB1 | c.330T>A (p.Ala110=) c.216T>A (p.Ala72=) n.360T>A c.473T>A c.-308T>A (n.-308T>A) | |
4 | g.186236782T>C | CA442640156 | KLKB1 | c.330T>C (p.Ala110=) c.216T>C (p.Ala72=) n.360T>C c.473T>C c.-308T>C (n.-308T>C) | |
4 | g.186236782T>G | CA442640155 | KLKB1 | c.330T>G (p.Ala110=) c.216T>G (p.Ala72=) n.360T>G c.473T>G c.-308T>G (n.-308T>G) | gnomAD v4 |
4 | g.186236783T>A | CA358944686 | KLKB1 | c.331T>A (p.Cys111Ser) c.217T>A (p.Cys73Ser) n.361T>A c.474T>A c.-307T>A (n.-307T>A) | |
4 | g.186236783T>C | CA358944688 | KLKB1 | c.331T>C (p.Cys111Arg) c.217T>C (p.Cys73Arg) n.361T>C c.474T>C c.-307T>C (n.-307T>C) | |
4 | g.186236783T>G | CA358944690 | KLKB1 | c.331T>G (p.Cys111Gly) c.217T>G (p.Cys73Gly) n.361T>G c.474T>G c.-307T>G (n.-307T>G) | |
4 | g.186236784G>A | CA358944692 | KLKB1 | c.332G>A (p.Cys111Tyr) c.218G>A (p.Cys73Tyr) n.362G>A c.475G>A c.-306G>A (n.-306G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186236784G>C | CA358944695 | KLKB1 | c.332G>C (p.Cys111Ser) c.218G>C (p.Cys73Ser) n.362G>C c.475G>C c.-306G>C (n.-306G>C) | |
4 | g.186236784G= | CA1519902279 | KLKB1 | c.332G= (p.Cys111=) c.218G= (p.Cys73=) n.362G= c.475G= c.-306G= (n.-306G=) | |
4 | g.186236784G>T | CA358944698 | KLKB1 | c.332G>T (p.Cys111Phe) c.218G>T (p.Cys73Phe) n.362G>T c.475G>T c.-306G>T (n.-306G>T) | |
4 | g.186236785C>A | CA358944701 | KLKB1 | c.333C>A (p.Cys111Ter) c.219C>A (p.Cys73Ter) n.363C>A c.476C>A c.-305C>A (n.-305C>A) | |
4 | g.186236785C= | CA1519902282 | KLKB1 | c.333C= (p.Cys111=) c.219C= (p.Cys73=) n.363C= c.476C= c.-305C= (n.-305C=) | |
4 | g.186236785C>G | CA358944703 | KLKB1 | c.333C>G (p.Cys111Trp) c.219C>G (p.Cys73Trp) n.363C>G c.476C>G c.-305C>G (n.-305C>G) | |
4 | g.186236785C>T | CA442640159 | KLKB1 | c.333C>T (p.Cys111=) c.219C>T (p.Cys73=) n.363C>T c.476C>T c.-305C>T (n.-305C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186236786C>A | CA358944707 | KLKB1 | c.334C>A (p.His112Asn) c.220C>A (p.His74Asn) n.364C>A c.477C>A c.-304C>A (n.-304C>A) | |
4 | g.186236786C>G | CA358944709 | KLKB1 | c.334C>G (p.His112Asp) c.220C>G (p.His74Asp) n.364C>G c.477C>G c.-304C>G (n.-304C>G) | |
4 | g.186236786C>T | CA358944711 | KLKB1 | c.334C>T (p.His112Tyr) c.220C>T (p.His74Tyr) n.364C>T c.477C>T c.-304C>T (n.-304C>T) | |
4 | g.186236787_186236789del | CA2672897195 | KLKB1 | c.335_337del (p.His112del) c.221_223del (p.His74del) n.365_367del c.478_480del c.-303_-301del (n.-303_-301del) | gnomAD v4 |
4 | g.186236787A= | CA1519902284 | KLKB1 | c.335A= (p.His112=) c.221A= (p.His74=) n.365A= c.478A= c.-303A= (n.-303A=) | |
4 | g.186236787A>C | CA3163025 | KLKB1 | c.335A>C (p.His112Pro) c.221A>C (p.His74Pro) n.365A>C c.478A>C c.-303A>C (n.-303A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186236787A>G | CA358944715 | KLKB1 | c.335A>G (p.His112Arg) c.221A>G (p.His74Arg) n.365A>G c.478A>G c.-303A>G (n.-303A>G) | |
4 | g.186236787A>T | CA358944717 | KLKB1 | c.335A>T (p.His112Leu) c.221A>T (p.His74Leu) n.365A>T c.478A>T c.-303A>T (n.-303A>T) | |
4 | g.186236788T>A | CA358944719 | KLKB1 | c.336T>A (p.His112Gln) c.222T>A (p.His74Gln) n.366T>A c.479T>A c.-302T>A (n.-302T>A) | |
4 | g.186236788T>C | CA442640163 | KLKB1 | c.336T>C (p.His112=) c.222T>C (p.His74=) n.366T>C c.479T>C c.-302T>C (n.-302T>C) | gnomAD v4 |
4 | g.186236788T>G | CA358944722 | KLKB1 | c.336T>G (p.His112Gln) c.222T>G (p.His74Gln) n.366T>G c.479T>G c.-302T>G (n.-302T>G) | |
4 | g.186236789C>A | CA442640164 | KLKB1 | c.337C>A (p.Arg113=) c.223C>A (p.Arg75=) n.367C>A c.480C>A c.-301C>A (n.-301C>A) | |
4 | g.186236789C= | CA1519902292 | KLKB1 | c.337C= (p.Arg113=) c.223C= (p.Arg75=) n.367C= c.480C= c.-301C= (n.-301C=) | |
4 | g.186236789C>G | CA358944725 | KLKB1 | c.337C>G (p.Arg113Gly) c.223C>G (p.Arg75Gly) n.367C>G c.480C>G c.-301C>G (n.-301C>G) | gnomAD v4 |
4 | g.186236789C>T | CA121827 | KLKB1 | c.337C>T (p.Arg113Ter) c.223C>T (p.Arg75Ter) n.367C>T c.480C>T c.-301C>T (n.-301C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186236790G>A | CA3163027 | KLKB1 | c.338G>A (p.Arg113Gln) c.224G>A (p.Arg75Gln) n.368G>A c.481G>A c.-300G>A (n.-300G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186236790G>C | CA3163026 | KLKB1 | c.338G>C (p.Arg113Pro) c.224G>C (p.Arg75Pro) n.368G>C c.481G>C c.-300G>C (n.-300G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186236790G= | CA1519902302 | KLKB1 | c.338G= (p.Arg113=) c.224G= (p.Arg75=) n.368G= c.481G= c.-300G= (n.-300G=) | |
4 | g.186236790G>T | CA358944733 | KLKB1 | c.338G>T (p.Arg113Leu) c.224G>T (p.Arg75Leu) n.368G>T c.481G>T c.-300G>T (n.-300G>T) | |
4 | g.186236791A>C | CA442640167 | KLKB1 | c.339A>C (p.Arg113=) c.225A>C (p.Arg75=) n.369A>C c.482A>C c.-299A>C (n.-299A>C) | |
4 | g.186236791A>G | CA442640168 | KLKB1 | c.339A>G (p.Arg113=) c.225A>G (p.Arg75=) n.369A>G c.482A>G c.-299A>G (n.-299A>G) | |
4 | g.186236791A>T | CA442640169 | KLKB1 | c.339A>T (p.Arg113=) c.225A>T (p.Arg75=) n.369A>T c.482A>T c.-299A>T (n.-299A>T) | |
4 | g.186236792G>A | CA358944741 | KLKB1 | c.340G>A (p.Asp114Asn) c.226G>A (p.Asp76Asn) n.370G>A c.483G>A c.-298G>A (n.-298G>A) | |
4 | g.186236792G>C | CA358944736 | KLKB1 | c.340G>C (p.Asp114His) c.226G>C (p.Asp76His) n.370G>C c.483G>C c.-298G>C (n.-298G>C) | |
4 | g.186236792G>T | CA358944738 | KLKB1 | c.340G>T (p.Asp114Tyr) c.226G>T (p.Asp76Tyr) n.370G>T c.483G>T c.-298G>T (n.-298G>T) | COSMIC COSMIC |
4 | g.186236793A>C | CA358944744 | KLKB1 | c.341A>C (p.Asp114Ala) c.227A>C (p.Asp76Ala) n.371A>C c.484A>C c.-297A>C (n.-297A>C) | |
4 | g.186236793A>G | CA358944746 | KLKB1 | c.341A>G (p.Asp114Gly) c.227A>G (p.Asp76Gly) n.371A>G c.484A>G c.-297A>G (n.-297A>G) | |
4 | g.186236793A>T | CA358944748 | KLKB1 | c.341A>T (p.Asp114Val) c.227A>T (p.Asp76Val) n.371A>T c.484A>T c.-297A>T (n.-297A>T) | |
4 | g.186236794C>A | CA358944750 | KLKB1 | c.342C>A (p.Asp114Glu) c.228C>A (p.Asp76Glu) n.372C>A c.485C>A c.-296C>A (n.-296C>A) | |
4 | g.186236794C= | CA1519902308 | KLKB1 | c.342C= (p.Asp114=) c.228C= (p.Asp76=) n.372C= c.485C= c.-296C= (n.-296C=) | |
4 | g.186236794C>G | CA358944753 | KLKB1 | c.342C>G (p.Asp114Glu) c.228C>G (p.Asp76Glu) n.372C>G c.485C>G c.-296C>G (n.-296C>G) | |
4 | g.186236794C>T | CA112111015 | KLKB1 | c.342C>T (p.Asp114=) c.228C>T (p.Asp76=) n.372C>T c.485C>T c.-296C>T (n.-296C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186236795A>C | CA358944756 | KLKB1 | c.343A>C (p.Ile115Leu) c.229A>C (p.Ile77Leu) n.373A>C c.486A>C c.-295A>C (n.-295A>C) | |
4 | g.186236795A>G | CA358944758 | KLKB1 | c.343A>G (p.Ile115Val) c.229A>G (p.Ile77Val) n.373A>G c.486A>G c.-295A>G (n.-295A>G) | |
4 | g.186236795A>T | CA358944760 | KLKB1 | c.343A>T (p.Ile115Phe) c.229A>T (p.Ile77Phe) n.373A>T c.486A>T c.-295A>T (n.-295A>T) | |
4 | g.186236796T>A | CA358944763 | KLKB1 | c.344T>A (p.Ile115Asn) c.230T>A (p.Ile77Asn) n.374T>A c.487T>A c.-294T>A (n.-294T>A) | |
4 | g.186236796T>C | CA358944765 | KLKB1 | c.344T>C (p.Ile115Thr) c.230T>C (p.Ile77Thr) n.374T>C c.487T>C c.-294T>C (n.-294T>C) | |
4 | g.186236796T>G | CA358944767 | KLKB1 | c.344T>G (p.Ile115Ser) c.230T>G (p.Ile77Ser) n.374T>G c.487T>G c.-294T>G (n.-294T>G) | |
4 | g.186236797T>A | CA442640175 | KLKB1 | c.345T>A (p.Ile115=) c.231T>A (p.Ile77=) n.375T>A c.488T>A c.-293T>A (n.-293T>A) | |
4 | g.186236797T>C | CA442640174 | KLKB1 | c.345T>C (p.Ile115=) c.231T>C (p.Ile77=) n.375T>C c.488T>C c.-293T>C (n.-293T>C) | |
4 | g.186236797T>G | CA358944769 | KLKB1 | c.345T>G (p.Ile115Met) c.231T>G (p.Ile77Met) n.375T>G c.488T>G c.-293T>G (n.-293T>G) | |
4 | g.186236798T>A | CA358944771 | KLKB1 | c.346T>A (p.Tyr116Asn) c.232T>A (p.Tyr78Asn) n.376T>A c.489T>A c.-292T>A (n.-292T>A) | |
4 | g.186236798T>C | CA112111021 | KLKB1 | c.346T>C (p.Tyr116His) c.232T>C (p.Tyr78His) n.376T>C c.489T>C c.-292T>C (n.-292T>C) | dbSNP |
4 | g.186236798T>G | CA358944773 | KLKB1 | c.346T>G (p.Tyr116Asp) c.232T>G (p.Tyr78Asp) n.376T>G c.489T>G c.-292T>G (n.-292T>G) | |
4 | g.186236798T= | CA1519902314 | KLKB1 | c.346T= (p.Tyr116=) c.232T= (p.Tyr78=) n.376T= c.489T= c.-292T= (n.-292T=) | |
4 | g.186236799A>C | CA358944776 | KLKB1 | c.347A>C (p.Tyr116Ser) c.233A>C (p.Tyr78Ser) n.377A>C c.490A>C c.-291A>C (n.-291A>C) | |
4 | g.186236799A>G | CA358944781 | KLKB1 | c.347A>G (p.Tyr116Cys) c.233A>G (p.Tyr78Cys) n.377A>G c.490A>G c.-291A>G (n.-291A>G) | |
4 | g.186236799A>T | CA358944779 | KLKB1 | c.347A>T (p.Tyr116Phe) c.233A>T (p.Tyr78Phe) n.377A>T c.490A>T c.-291A>T (n.-291A>T) | |
4 | g.186236800T>A | CA358944785 | KLKB1 | c.348T>A (p.Tyr116Ter) c.234T>A (p.Tyr78Ter) n.378T>A c.491T>A c.-290T>A (n.-290T>A) | |
4 | g.186236800T>C | CA3163028 | KLKB1 | c.348T>C (p.Tyr116=) c.234T>C (p.Tyr78=) n.378T>C c.491T>C c.-290T>C (n.-290T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186236800T>G | CA358944787 | KLKB1 | c.348T>G (p.Tyr116Ter) c.234T>G (p.Tyr78Ter) n.378T>G c.491T>G c.-290T>G (n.-290T>G) | |
4 | g.186236800T= | CA1519902321 | KLKB1 | c.348T= (p.Tyr116=) c.234T= (p.Tyr78=) n.378T= c.491T= c.-290T= (n.-290T=) | |
4 | g.186236801A>C | CA358944791 | KLKB1 | c.349A>C (p.Lys117Gln) c.235A>C (p.Lys79Gln) n.379A>C c.492A>C c.-289A>C (n.-289A>C) | |
4 | g.186236801A>G | CA358944796 | KLKB1 | c.349A>G (p.Lys117Glu) c.235A>G (p.Lys79Glu) n.379A>G c.492A>G c.-289A>G (n.-289A>G) | |
4 | g.186236801A>T | CA358944793 | KLKB1 | c.349A>T (p.Lys117Ter) c.235A>T (p.Lys79Ter) n.379A>T c.492A>T c.-289A>T (n.-289A>T) | |
4 | g.186236802A>C | CA358944799 | KLKB1 | c.350A>C (p.Lys117Thr) c.236A>C (p.Lys79Thr) n.380A>C c.493A>C c.-288A>C (n.-288A>C) | |
4 | g.186236802A>G | CA358944802 | KLKB1 | c.350A>G (p.Lys117Arg) c.236A>G (p.Lys79Arg) n.380A>G c.493A>G c.-288A>G (n.-288A>G) | |
4 | g.186236802A>T | CA358944804 | KLKB1 | c.350A>T (p.Lys117Ile) c.236A>T (p.Lys79Ile) n.380A>T c.493A>T c.-288A>T (n.-288A>T) | |
4 | g.186236803A>C | CA358944807 | KLKB1 | c.351A>C (p.Lys117Asn) c.237A>C (p.Lys79Asn) n.381A>C c.494A>C c.-287A>C (n.-287A>C) | |
4 | g.186236803A>G | CA442640186 | KLKB1 | c.351A>G (p.Lys117=) c.237A>G (p.Lys79=) n.381A>G c.494A>G c.-287A>G (n.-287A>G) | |
4 | g.186236803A>T | CA358944809 | KLKB1 | c.351A>T (p.Lys117Asn) c.237A>T (p.Lys79Asn) n.381A>T c.494A>T c.-287A>T (n.-287A>T) | |
4 | g.186236804G>A | CA358944812 | KLKB1 | c.352G>A (p.Gly118Arg) c.238G>A (p.Gly80Arg) n.382G>A c.495G>A c.-286G>A (n.-286G>A) | gnomAD v4 |
4 | g.186236804G>C | CA358944814 | KLKB1 | c.352G>C (p.Gly118Arg) c.238G>C (p.Gly80Arg) n.382G>C c.495G>C c.-286G>C (n.-286G>C) | |
4 | g.186236804G>T | CA358944816 | KLKB1 | c.352G>T (p.Gly118Ter) c.238G>T (p.Gly80Ter) n.382G>T c.495G>T c.-286G>T (n.-286G>T) | |
4 | g.186236805G>A | CA358944819 | KLKB1 | c.353G>A (p.Gly118Glu) c.239G>A (p.Gly80Glu) n.383G>A c.496G>A c.-285G>A (n.-285G>A) | gnomAD v4 |
4 | g.186236805G>C | CA358944821 | KLKB1 | c.353G>C (p.Gly118Ala) c.239G>C (p.Gly80Ala) n.383G>C c.496G>C c.-285G>C (n.-285G>C) | COSMIC COSMIC |
4 | g.186236805G>T | CA358944824 | KLKB1 | c.353G>T (p.Gly118Val) c.239G>T (p.Gly80Val) n.383G>T c.496G>T c.-285G>T (n.-285G>T) | |
4 | g.186236806A= | CA1519902324 | KLKB1 | c.354A= (p.Gly118=) c.240A= (p.Gly80=) n.384A= c.497A= c.-284A= (n.-284A=) | |
4 | g.186236806A>C | CA442640191 | KLKB1 | c.354A>C (p.Gly118=) c.240A>C (p.Gly80=) n.384A>C c.497A>C c.-284A>C (n.-284A>C) | |
4 | g.186236806A>G | CA3163029 | KLKB1 | c.354A>G (p.Gly118=) c.240A>G (p.Gly80=) n.384A>G c.497A>G c.-284A>G (n.-284A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186236806A>T | CA442640192 | KLKB1 | c.354A>T (p.Gly118=) c.240A>T (p.Gly80=) n.384A>T c.497A>T c.-284A>T (n.-284A>T) | |
4 | g.186236807G>A | CA358944829 | KLKB1 | c.355G>A (p.Val119Ile) c.241G>A (p.Val81Ile) n.385G>A c.498G>A c.-283G>A (n.-283G>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186236807G>C | CA358944833 | KLKB1 | c.355G>C (p.Val119Leu) c.241G>C (p.Val81Leu) n.385G>C c.498G>C c.-283G>C (n.-283G>C) | |
4 | g.186236807G= | CA1519902326 | KLKB1 | c.355G= (p.Val119=) c.241G= (p.Val81=) n.385G= c.498G= c.-283G= (n.-283G=) | |
4 | g.186236807G>T | CA358944831 | KLKB1 | c.355G>T (p.Val119Phe) c.241G>T (p.Val81Phe) n.385G>T c.498G>T c.-283G>T (n.-283G>T) | |
4 | g.186236808T>A | CA358944835 | KLKB1 | c.356T>A (p.Val119Asp) c.242T>A (p.Val81Asp) n.386T>A c.499T>A c.-282T>A (n.-282T>A) | |
4 | g.186236808T>C | CA358944837 | KLKB1 | c.356T>C (p.Val119Ala) c.242T>C (p.Val81Ala) n.386T>C c.499T>C c.-282T>C (n.-282T>C) | gnomAD v4 |
4 | g.186236808T>G | CA358944839 | KLKB1 | c.356T>G (p.Val119Gly) c.242T>G (p.Val81Gly) n.386T>G c.499T>G c.-282T>G (n.-282T>G) | |
4 | g.186236809T>A | CA3163030 | KLKB1 | c.357T>A (p.Val119=) c.243T>A (p.Val81=) n.387T>A c.500T>A c.-281T>A (n.-281T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186236809T>C | CA442640198 | KLKB1 | c.357T>C (p.Val119=) c.243T>C (p.Val81=) n.387T>C c.500T>C c.-281T>C (n.-281T>C) | |
4 | g.186236809T>G | CA442640200 | KLKB1 | c.357T>G (p.Val119=) c.243T>G (p.Val81=) n.387T>G c.500T>G c.-281T>G (n.-281T>G) | |
4 | g.186236809T= | CA1519902329 | KLKB1 | c.357T= (p.Val119=) c.243T= (p.Val81=) n.387T= c.500T= c.-281T= (n.-281T=) | |
4 | g.186236810G>A | CA358944843 | KLKB1 | c.358G>A (p.Asp120Asn) c.244G>A (p.Asp82Asn) n.388G>A c.501G>A c.-280G>A (n.-280G>A) | |
4 | g.186236810G>C | CA358944845 | KLKB1 | c.358G>C (p.Asp120His) c.244G>C (p.Asp82His) n.388G>C c.501G>C c.-280G>C (n.-280G>C) | |
4 | g.186236810G>T | CA358944847 | KLKB1 | c.358G>T (p.Asp120Tyr) c.244G>T (p.Asp82Tyr) n.388G>T c.501G>T c.-280G>T (n.-280G>T) | |
4 | g.186236811A>C | CA358944850 | KLKB1 | c.359A>C (p.Asp120Ala) c.245A>C (p.Asp82Ala) n.389A>C c.502A>C c.-279A>C (n.-279A>C) | gnomAD v4 |
4 | g.186236811A>G | CA358944852 | KLKB1 | c.359A>G (p.Asp120Gly) c.245A>G (p.Asp82Gly) n.389A>G c.502A>G c.-279A>G (n.-279A>G) | |
4 | g.186236811A>T | CA358944854 | KLKB1 | c.359A>T (p.Asp120Val) c.245A>T (p.Asp82Val) n.389A>T c.502A>T c.-279A>T (n.-279A>T) | |
4 | g.186236812T>A | CA358944859 | KLKB1 | c.360T>A (p.Asp120Glu) c.246T>A (p.Asp82Glu) n.390T>A c.503T>A c.-278T>A (n.-278T>A) | |
4 | g.186236812T>C | CA442640203 | KLKB1 | c.360T>C (p.Asp120=) c.246T>C (p.Asp82=) n.390T>C c.503T>C c.-278T>C (n.-278T>C) | gnomAD v4 |
4 | g.186236812T>G | CA358944857 | KLKB1 | c.360T>G (p.Asp120Glu) c.246T>G (p.Asp82Glu) n.390T>G c.503T>G c.-278T>G (n.-278T>G) | |
4 | g.186236812_186236817delinsTATGAG | CA1519902331 | KLKB1 | c.360_365delinsTATGAG (p.Asp120=) c.246_251delinsTATGAG (p.Asp82=) n.390_395delinsTATGAG c.503_508delinsTATGAG c.-278_-273delinsTATGAG (n.-278_-273delinsTATGAG) | |
4 | g.186236813A= | CA1519902337 | KLKB1 | c.361A= (p.Met121=) c.247A= (p.Met83=) n.391A= c.504A= c.-277A= (n.-277A=) | |
4 | g.186236813A>C | CA358944862 | KLKB1 | c.361A>C (p.Met121Leu) c.247A>C (p.Met83Leu) n.391A>C c.504A>C c.-277A>C (n.-277A>C) | |
4 | g.186236813A>G | CA358944865 | KLKB1 | c.361A>G (p.Met121Val) c.247A>G (p.Met83Val) n.391A>G c.504A>G c.-277A>G (n.-277A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186236813A>T | CA358944868 | KLKB1 | c.361A>T (p.Met121Leu) c.247A>T (p.Met83Leu) n.391A>T c.504A>T c.-277A>T (n.-277A>T) | dbSNP gnomAD v4 |
4 | g.186236814_186236818del | CA3163031 | KLKB1 | c.362_366del (p.Met121ArgfsTer5) c.248_252del (p.Met83ArgfsTer5) n.392_396del c.505_509del c.-276_-272del (n.-276_-272del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186236814T>A | CA358944872 | KLKB1 | c.362T>A (p.Met121Lys) c.248T>A (p.Met83Lys) n.392T>A c.505T>A c.-276T>A (n.-276T>A) | COSMIC COSMIC |
4 | g.186236814T>C | CA358944875 | KLKB1 | c.362T>C (p.Met121Thr) c.248T>C (p.Met83Thr) n.392T>C c.505T>C c.-276T>C (n.-276T>C) | gnomAD v4 |
4 | g.186236814T>G | CA358944877 | KLKB1 | c.362T>G (p.Met121Arg) c.248T>G (p.Met83Arg) n.392T>G c.505T>G c.-276T>G (n.-276T>G) | dbSNP |
4 | g.186236814T= | CA1519902351 | KLKB1 | c.362T= (p.Met121=) c.248T= (p.Met83=) n.392T= c.505T= c.-276T= (n.-276T=) | |
4 | g.186236814_186236816delinsTGA | CA1519902354 | KLKB1 | c.362_364delinsTGA (p.Met121=) c.248_250delinsTGA (p.Met83=) n.392_394delinsTGA c.505_507delinsTGA c.-276_-274delinsTGA (n.-276_-274delinsTGA) | |
4 | g.186236815G>A | CA358944881 | KLKB1 | c.363G>A (p.Met121Ile) c.249G>A (p.Met83Ile) n.393G>A c.506G>A c.-275G>A (n.-275G>A) | |
4 | g.186236815G>C | CA358944883 | KLKB1 | c.363G>C (p.Met121Ile) c.249G>C (p.Met83Ile) n.393G>C c.506G>C c.-275G>C (n.-275G>C) | |
4 | g.186236815G>T | CA358944885 | KLKB1 | c.363G>T (p.Met121Ile) c.249G>T (p.Met83Ile) n.393G>T c.506G>T c.-275G>T (n.-275G>T) | |
4 | g.186236818_186236819del | CA1071987069 | KLKB1 | c.366_367del (p.Gly123SerfsTer4) c.252_253del (p.Gly85SerfsTer4) n.396_397del c.509_510del c.-272_-271del (n.-272_-271del) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186236816A>C | CA442640207 | KLKB1 | c.364A>C (p.Arg122=) c.250A>C (p.Arg84=) n.394A>C c.507A>C c.-274A>C (n.-274A>C) | |
4 | g.186236816A>G | CA358944888 | KLKB1 | c.364A>G (p.Arg122Gly) c.250A>G (p.Arg84Gly) n.394A>G c.507A>G c.-274A>G (n.-274A>G) | |
4 | g.186236816A>T | CA358944890 | KLKB1 | c.364A>T (p.Arg122Ter) c.250A>T (p.Arg84Ter) n.394A>T c.507A>T c.-274A>T (n.-274A>T) | |
4 | g.186236817G>A | CA112111050 | KLKB1 | c.365G>A (p.Arg122Lys) c.251G>A (p.Arg84Lys) n.395G>A c.508G>A c.-273G>A (n.-273G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186236817G>C | CA358944892 | KLKB1 | c.365G>C (p.Arg122Thr) c.251G>C (p.Arg84Thr) n.395G>C c.508G>C c.-273G>C (n.-273G>C) | gnomAD v4 |
4 | g.186236817G= | CA1519902358 | KLKB1 | c.365G= (p.Arg122=) c.251G= (p.Arg84=) n.395G= c.508G= c.-273G= (n.-273G=) | |
4 | g.186236817G>T | CA358944898 | KLKB1 | c.365G>T (p.Arg122Ile) c.251G>T (p.Arg84Ile) n.395G>T c.508G>T c.-273G>T (n.-273G>T) | |
4 | g.186236818A= | CA1519902375 | KLKB1 | c.366A= (p.Arg122=) c.252A= (p.Arg84=) n.396A= c.509A= c.-272A= (n.-272A=) | |
4 | g.186236818A>C | CA358944901 | KLKB1 | c.366A>C (p.Arg122Ser) c.252A>C (p.Arg84Ser) n.396A>C c.509A>C c.-272A>C (n.-272A>C) | |
4 | g.186236818A>G | CA442640212 | KLKB1 | c.366A>G (p.Arg122=) c.252A>G (p.Arg84=) n.396A>G c.509A>G c.-272A>G (n.-272A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186236818A>T | CA358944903 | KLKB1 | c.366A>T (p.Arg122Ser) c.252A>T (p.Arg84Ser) n.396A>T c.509A>T c.-272A>T (n.-272A>T) | |
4 | g.186236819G>A | CA121833 | KLKB1 | c.367G>A (p.Gly123Arg) c.253G>A (p.Gly85Arg) n.397G>A c.510G>A c.-271G>A (n.-271G>A) | ClinVar dbSNP gnomAD v4 |
4 | g.186236819G>C | CA358944906 | KLKB1 | c.367G>C (p.Gly123Arg) c.253G>C (p.Gly85Arg) n.397G>C c.510G>C c.-271G>C (n.-271G>C) | |
4 | g.186236819G= | CA1519902388 | KLKB1 | c.367G= (p.Gly123=) c.253G= (p.Gly85=) n.397G= c.510G= c.-271G= (n.-271G=) | |
4 | g.186236819G>T | CA3163032 | KLKB1 | c.367G>T (p.Gly123Ter) c.253G>T (p.Gly85Ter) n.397G>T c.510G>T c.-271G>T (n.-271G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186236820G>A | CA358944911 | KLKB1 | c.368G>A (p.Gly123Glu) c.254G>A (p.Gly85Glu) n.398G>A c.511G>A c.-270G>A (n.-270G>A) | |
4 | g.186236820G>C | CA358944913 | KLKB1 | c.368G>C (p.Gly123Ala) c.254G>C (p.Gly85Ala) n.398G>C c.511G>C c.-270G>C (n.-270G>C) | |
4 | g.186236820G>T | CA358944915 | KLKB1 | c.368G>T (p.Gly123Val) c.254G>T (p.Gly85Val) n.398G>T c.511G>T c.-270G>T (n.-270G>T) | |
4 | g.186236821A= | CA1519902397 | KLKB1 | c.369A= (p.Gly123=) c.255A= (p.Gly85=) n.399A= c.512A= c.-269A= (n.-269A=) | |
4 | g.186236821A>C | CA442640217 | KLKB1 | c.369A>C (p.Gly123=) c.255A>C (p.Gly85=) n.399A>C c.512A>C c.-269A>C (n.-269A>C) | |
4 | g.186236821A>G | CA442640218 | KLKB1 | c.369A>G (p.Gly123=) c.255A>G (p.Gly85=) n.399A>G c.512A>G c.-269A>G (n.-269A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186236821A>T | CA442640219 | KLKB1 | c.369A>T (p.Gly123=) c.255A>T (p.Gly85=) n.399A>T c.512A>T c.-269A>T (n.-269A>T) | |
4 | g.186236822G>A | CA358944923 | KLKB1 | c.370G>A (p.Val124Ile) c.256G>A (p.Val86Ile) n.400G>A c.513G>A c.-268G>A (n.-268G>A) | |
4 | g.186236822G>C | CA358944930 | KLKB1 | c.370G>C (p.Val124Leu) c.256G>C (p.Val86Leu) n.400G>C c.513G>C c.-268G>C (n.-268G>C) | |
4 | g.186236822G>T | CA358944932 | KLKB1 | c.370G>T (p.Val124Phe) c.256G>T (p.Val86Phe) n.400G>T c.513G>T c.-268G>T (n.-268G>T) | |
4 | g.186236823T>A | CA358944940 | KLKB1 | c.371T>A (p.Val124Asp) c.257T>A (p.Val86Asp) n.401T>A c.514T>A c.-267T>A (n.-267T>A) | |
4 | g.186236823T>C | CA358944938 | KLKB1 | c.371T>C (p.Val124Ala) c.257T>C (p.Val86Ala) n.401T>C c.514T>C c.-267T>C (n.-267T>C) | gnomAD v4 |
4 | g.186236823T>G | CA358944936 | KLKB1 | c.371T>G (p.Val124Gly) c.257T>G (p.Val86Gly) n.401T>G c.514T>G c.-267T>G (n.-267T>G) | |
4 | g.186236824C>A | CA442640222 | KLKB1 | c.372C>A (p.Val124=) c.258C>A (p.Val86=) n.402C>A c.515C>A c.-266C>A (n.-266C>A) | |
4 | g.186236824C>G | CA442640223 | KLKB1 | c.372C>G (p.Val124=) c.258C>G (p.Val86=) n.402C>G c.515C>G c.-266C>G (n.-266C>G) | |
4 | g.186236824C>T | CA442640225 | KLKB1 | c.372C>T (p.Val124=) c.258C>T (p.Val86=) n.402C>T c.515C>T c.-266C>T (n.-266C>T) | |
4 | g.186236825A>C | CA358944943 | KLKB1 | c.373A>C (p.Asn125His) c.259A>C (p.Asn87His) n.403A>C c.516A>C c.-265A>C (n.-265A>C) | gnomAD v4 |
4 | g.186236825A>G | CA358944945 | KLKB1 | c.373A>G (p.Asn125Asp) c.259A>G (p.Asn87Asp) n.403A>G c.516A>G c.-265A>G (n.-265A>G) | |
4 | g.186236825A>T | CA358944947 | KLKB1 | c.373A>T (p.Asn125Tyr) c.259A>T (p.Asn87Tyr) n.403A>T c.516A>T c.-265A>T (n.-265A>T) | |
4 | g.186236826A= | CA1519902402 | KLKB1 | c.374A= (p.Asn125=) c.260A= (p.Asn87=) n.404A= c.517A= c.-264A= (n.-264A=) | |
4 | g.186236826A>C | CA358944948 | KLKB1 | c.374A>C (p.Asn125Thr) c.260A>C (p.Asn87Thr) n.404A>C c.517A>C c.-264A>C (n.-264A>C) | |
4 | g.186236826A>G | CA112111079 | KLKB1 | c.374A>G (p.Asn125Ser) c.260A>G (p.Asn87Ser) n.404A>G c.517A>G c.-264A>G (n.-264A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186236826A>T | CA358944951 | KLKB1 | c.374A>T (p.Asn125Ile) c.260A>T (p.Asn87Ile) n.404A>T c.517A>T c.-264A>T (n.-264A>T) | |
4 | g.186236827T>A | CA358944954 | KLKB1 | c.375T>A (p.Asn125Lys) c.261T>A (p.Asn87Lys) n.405T>A c.518T>A c.-263T>A (n.-263T>A) | |
4 | g.186236827T>C | CA442640231 | KLKB1 | c.375T>C (p.Asn125=) c.261T>C (p.Asn87=) n.405T>C c.518T>C c.-263T>C (n.-263T>C) | dbSNP |
4 | g.186236827T>G | CA358944956 | KLKB1 | c.375T>G (p.Asn125Lys) c.261T>G (p.Asn87Lys) n.405T>G c.518T>G c.-263T>G (n.-263T>G) | |
4 | g.186236827T= | CA1519902410 | KLKB1 | c.375T= (p.Asn125=) c.261T= (p.Asn87=) n.405T= c.518T= c.-263T= (n.-263T=) | |
4 | g.186236830del | CA2523996490 | KLKB1 | c.378del (p.Phe126LeufsTer?) c.264del (p.Phe88LeufsTer?) n.408del c.521del c.-260del (n.-260del) | |
4 | g.186236828T>A | CA358944959 | KLKB1 | c.376T>A (p.Phe126Ile) c.262T>A (p.Phe88Ile) n.406T>A c.519T>A c.-262T>A (n.-262T>A) | |
4 | g.186236828T>C | CA358944961 | KLKB1 | c.376T>C (p.Phe126Leu) c.262T>C (p.Phe88Leu) n.406T>C c.519T>C c.-262T>C (n.-262T>C) | |
4 | g.186236828T>G | CA358944962 | KLKB1 | c.376T>G (p.Phe126Val) c.262T>G (p.Phe88Val) n.406T>G c.519T>G c.-262T>G (n.-262T>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186236828T= | CA1519902414 | KLKB1 | c.376T= (p.Phe126=) c.262T= (p.Phe88=) n.406T= c.519T= c.-262T= (n.-262T=) | |
4 | g.186236829T>A | CA358944965 | KLKB1 | c.377T>A (p.Phe126Tyr) c.263T>A (p.Phe88Tyr) n.407T>A c.520T>A c.-261T>A (n.-261T>A) | |
4 | g.186236829T>C | CA358944967 | KLKB1 | c.377T>C (p.Phe126Ser) c.263T>C (p.Phe88Ser) n.407T>C c.520T>C c.-261T>C (n.-261T>C) | |
4 | g.186236829T>G | CA358944968 | KLKB1 | c.377T>G (p.Phe126Cys) c.263T>G (p.Phe88Cys) n.407T>G c.520T>G c.-261T>G (n.-261T>G) | |
4 | g.186236830T>A | CA358944974 | KLKB1 | c.378T>A (p.Phe126Leu) c.264T>A (p.Phe88Leu) n.408T>A c.521T>A c.-260T>A (n.-260T>A) | |
4 | g.186236830T>C | CA442640238 | KLKB1 | c.378T>C (p.Phe126=) c.264T>C (p.Phe88=) n.408T>C c.521T>C c.-260T>C (n.-260T>C) | |
4 | g.186236830T>G | CA358944972 | KLKB1 | c.378T>G (p.Phe126Leu) c.264T>G (p.Phe88Leu) n.408T>G c.521T>G c.-260T>G (n.-260T>G) | |
4 | g.186236831A>C | CA358944977 | KLKB1 | c.379A>C (p.Asn127His) c.265A>C (p.Asn89His) n.409A>C c.522A>C c.-259A>C (n.-259A>C) | |
4 | g.186236831A>G | CA358944979 | KLKB1 | c.379A>G (p.Asn127Asp) c.265A>G (p.Asn89Asp) n.409A>G c.522A>G c.-259A>G (n.-259A>G) | |
4 | g.186236831A>T | CA358944982 | KLKB1 | c.379A>T (p.Asn127Tyr) c.265A>T (p.Asn89Tyr) n.409A>T c.522A>T c.-259A>T (n.-259A>T) | |
4 | g.186236832A= | CA1519902421 | KLKB1 | c.380A= (p.Asn127=) c.266A= (p.Asn89=) n.410A= c.523A= c.-258A= (n.-258A=) | |
4 | g.186236832A>C | CA358944985 | KLKB1 | c.380A>C (p.Asn127Thr) c.266A>C (p.Asn89Thr) n.410A>C c.523A>C c.-258A>C (n.-258A>C) | dbSNP gnomAD v2 |
4 | g.186236832A>G | CA358944987 | KLKB1 | c.380A>G (p.Asn127Ser) c.266A>G (p.Asn89Ser) n.410A>G c.523A>G c.-258A>G (n.-258A>G) | |
4 | g.186236832A>T | CA358944989 | KLKB1 | c.380A>T (p.Asn127Ile) c.266A>T (p.Asn89Ile) n.410A>T c.523A>T c.-258A>T (n.-258A>T) | |
4 | g.186236833T>A | CA358944994 | KLKB1 | c.381T>A (p.Asn127Lys) c.267T>A (p.Asn89Lys) n.411T>A c.524T>A c.-257T>A (n.-257T>A) | |
4 | g.186236833T>C | CA442640241 | KLKB1 | c.381T>C (p.Asn127=) c.267T>C (p.Asn89=) n.411T>C c.524T>C c.-257T>C (n.-257T>C) | |
4 | g.186236833T>G | CA358944992 | KLKB1 | c.381T>G (p.Asn127Lys) c.267T>G (p.Asn89Lys) n.411T>G c.524T>G c.-257T>G (n.-257T>G) | |
4 | g.186236834G>A | CA358944996 | KLKB1 | c.382G>A (p.Val128Met) c.268G>A (p.Val90Met) n.412G>A c.525G>A c.-256G>A (n.-256G>A) | gnomAD v3 gnomAD v4 |
4 | g.186236834G>C | CA358945000 | KLKB1 | c.382G>C (p.Val128Leu) c.268G>C (p.Val90Leu) n.412G>C c.525G>C c.-256G>C (n.-256G>C) | |
4 | g.186236834G>T | CA358945002 | KLKB1 | c.382G>T (p.Val128Leu) c.268G>T (p.Val90Leu) n.412G>T c.525G>T c.-256G>T (n.-256G>T) | |
4 | g.186236835T>A | CA358945004 | KLKB1 | c.383T>A (p.Val128Glu) c.269T>A (p.Val90Glu) n.413T>A c.526T>A c.-255T>A (n.-255T>A) | |
4 | g.186236835T>C | CA358945006 | KLKB1 | c.383T>C (p.Val128Ala) c.269T>C (p.Val90Ala) n.413T>C c.526T>C c.-255T>C (n.-255T>C) | |
4 | g.186236835T>G | CA358945008 | KLKB1 | c.383T>G (p.Val128Gly) c.269T>G (p.Val90Gly) n.413T>G c.526T>G c.-255T>G (n.-255T>G) | |
4 | g.186236836G>A | CA442640244 | KLKB1 | c.384G>A (p.Val128=) c.270G>A (p.Val90=) n.414G>A c.527G>A c.-254G>A (n.-254G>A) | dbSNP gnomAD v4 |
4 | g.186236836G>C | CA442640246 | KLKB1 | c.384G>C (p.Val128=) c.270G>C (p.Val90=) n.414G>C c.527G>C c.-254G>C (n.-254G>C) | |
4 | g.186236836G>T | CA442640247 | KLKB1 | c.384G>T (p.Val128=) c.270G>T (p.Val90=) n.414G>T c.527G>T c.-254G>T (n.-254G>T) | |
4 | g.186236837T>A | CA358945012 | KLKB1 | c.385T>A (p.Ser129Thr) c.271T>A (p.Ser91Thr) n.415T>A c.528T>A c.-253T>A (n.-253T>A) | |
4 | g.186236837T>C | CA358945016 | KLKB1 | c.385T>C (p.Ser129Pro) c.271T>C (p.Ser91Pro) n.415T>C c.528T>C c.-253T>C (n.-253T>C) | gnomAD v4 |
4 | g.186236837T>G | CA358945014 | KLKB1 | c.385T>G (p.Ser129Ala) c.271T>G (p.Ser91Ala) n.415T>G c.528T>G c.-253T>G (n.-253T>G) | |
4 | g.186236838C>A | CA358945019 | KLKB1 | c.386C>A (p.Ser129Tyr) c.272C>A (p.Ser91Tyr) n.416C>A c.529C>A c.-252C>A (n.-252C>A) | |
4 | g.186236838C= | CA1519902427 | KLKB1 | c.386C= (p.Ser129=) c.272C= (p.Ser91=) n.416C= c.529C= c.-252C= (n.-252C=) | |
4 | g.186236838C>G | CA3163033 | KLKB1 | c.386C>G (p.Ser129Cys) c.272C>G (p.Ser91Cys) n.416C>G c.529C>G c.-252C>G (n.-252C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186236838C>T | CA358945023 | KLKB1 | c.386C>T (p.Ser129Phe) c.272C>T (p.Ser91Phe) n.416C>T c.529C>T c.-252C>T (n.-252C>T) | gnomAD v4 |
4 | g.186236839T>A | CA442640253 | KLKB1 | c.387T>A (p.Ser129=) c.273T>A (p.Ser91=) n.417T>A c.530T>A c.-251T>A (n.-251T>A) | |
4 | g.186236839T>C | CA442640254 | KLKB1 | c.387T>C (p.Ser129=) c.273T>C (p.Ser91=) n.417T>C c.530T>C c.-251T>C (n.-251T>C) | |
4 | g.186236839T>G | CA442640255 | KLKB1 | c.387T>G (p.Ser129=) c.273T>G (p.Ser91=) n.417T>G c.530T>G c.-251T>G (n.-251T>G) | |
4 | g.186236840A= | CA1519902434 | KLKB1 | c.388A= (p.Lys130=) c.274A= (p.Lys92=) n.418A= c.531A= c.-250A= (n.-250A=) | |
4 | g.186236840A>C | CA358945026 | KLKB1 | c.388A>C (p.Lys130Gln) c.274A>C (p.Lys92Gln) n.418A>C c.531A>C c.-250A>C (n.-250A>C) | |
4 | g.186236840A>G | CA358945028 | KLKB1 | c.388A>G (p.Lys130Glu) c.274A>G (p.Lys92Glu) n.418A>G c.531A>G c.-250A>G (n.-250A>G) | gnomAD v4 |
4 | g.186236840A>T | CA3163034 | KLKB1 | c.388A>T (p.Lys130Ter) c.274A>T (p.Lys92Ter) n.418A>T c.531A>T c.-250A>T (n.-250A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186236841A>C | CA358945032 | KLKB1 | c.389A>C (p.Lys130Thr) c.275A>C (p.Lys92Thr) n.419A>C c.532A>C c.-249A>C (n.-249A>C) | |
4 | g.186236841A>G | CA358945034 | KLKB1 | c.389A>G (p.Lys130Arg) c.275A>G (p.Lys92Arg) n.419A>G c.532A>G c.-249A>G (n.-249A>G) | |
4 | g.186236841A>T | CA358945036 | KLKB1 | c.389A>T (p.Lys130Met) c.275A>T (p.Lys92Met) n.419A>T c.532A>T c.-249A>T (n.-249A>T) | |
4 | g.186236841_186236842delinsAG | CA1519902443 | KLKB1 | c.389_390delinsAG (p.Lys130=) c.275_276delinsAG (p.Lys92=) n.419_420delinsAG c.532_533delinsAG c.-249_-248delinsAG (n.-249_-248delinsAG) | |
4 | g.186236842G>A | CA442640258 | KLKB1 | c.390G>A (p.Lys130=) c.276G>A (p.Lys92=) n.420G>A c.533G>A c.-248G>A (n.-248G>A) | COSMIC COSMIC |
4 | g.186236842G>C | CA358945039 | KLKB1 | c.390G>C (p.Lys130Asn) c.276G>C (p.Lys92Asn) n.420G>C c.533G>C c.-248G>C (n.-248G>C) | |
4 | g.186236842G>T | CA358945041 | KLKB1 | c.390G>T (p.Lys130Asn) c.276G>T (p.Lys92Asn) n.420G>T c.533G>T c.-248G>T (n.-248G>T) | |
4 | g.186236843del | CA3163035 | KLKB1 | c.391del (p.Val131LeufsTer?) c.277del (p.Val93LeufsTer?) n.421del c.534del c.-247del (n.-247del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186236843G>A | CA358945050 | KLKB1 | c.391G>A (p.Val131Ile) c.277G>A (p.Val93Ile) n.421G>A c.534G>A c.-247G>A (n.-247G>A) | |
4 | g.186236843G>C | CA358945045 | KLKB1 | c.391G>C (p.Val131Leu) c.277G>C (p.Val93Leu) n.421G>C c.534G>C c.-247G>C (n.-247G>C) | |
4 | g.186236843G= | CA1519902454 | KLKB1 | c.391G= (p.Val131=) c.277G= (p.Val93=) n.421G= c.534G= c.-247G= (n.-247G=) | |
4 | g.186236843G>T | CA358945048 | KLKB1 | c.391G>T (p.Val131Phe) c.277G>T (p.Val93Phe) n.421G>T c.534G>T c.-247G>T (n.-247G>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186236844T>A | CA358945053 | KLKB1 | c.392T>A (p.Val131Asp) c.278T>A (p.Val93Asp) n.422T>A c.535T>A c.-246T>A (n.-246T>A) | |
4 | g.186236844T>C | CA358945056 | KLKB1 | c.392T>C (p.Val131Ala) c.278T>C (p.Val93Ala) n.422T>C c.535T>C c.-246T>C (n.-246T>C) | |
4 | g.186236844T>G | CA358945059 | KLKB1 | c.392T>G (p.Val131Gly) c.278T>G (p.Val93Gly) n.422T>G c.535T>G c.-246T>G (n.-246T>G) | COSMIC COSMIC |
4 | g.186236845T>A | CA442640260 | KLKB1 | c.393T>A (p.Val131=) c.279T>A (p.Val93=) n.423T>A c.536T>A c.-245T>A (n.-245T>A) | |
4 | g.186236845T>C | CA442640263 | KLKB1 | c.393T>C (p.Val131=) c.279T>C (p.Val93=) n.423T>C c.536T>C c.-245T>C (n.-245T>C) | |
4 | g.186236845T>G | CA442640266 | KLKB1 | c.393T>G (p.Val131=) c.279T>G (p.Val93=) n.423T>G c.536T>G c.-245T>G (n.-245T>G) | |
4 | g.186236846A>C | CA358945064 | KLKB1 | c.394A>C (p.Ser132Arg) c.280A>C (p.Ser94Arg) n.424A>C c.537A>C c.-244A>C (n.-244A>C) | |
4 | g.186236846A>G | CA358945066 | KLKB1 | c.394A>G (p.Ser132Gly) c.280A>G (p.Ser94Gly) n.424A>G c.537A>G c.-244A>G (n.-244A>G) | |
4 | g.186236846A>T | CA358945068 | KLKB1 | c.394A>T (p.Ser132Cys) c.280A>T (p.Ser94Cys) n.424A>T c.537A>T c.-244A>T (n.-244A>T) | gnomAD v4 |
4 | g.186236847G>A | CA358945071 | KLKB1 | c.395G>A (p.Ser132Asn) c.281G>A (p.Ser94Asn) n.425G>A c.538G>A c.-243G>A (n.-243G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186236847G>C | CA358945074 | KLKB1 | c.395G>C (p.Ser132Thr) c.281G>C (p.Ser94Thr) n.425G>C c.538G>C c.-243G>C (n.-243G>C) | gnomAD v4 |
4 | g.186236847G= | CA1519902458 | KLKB1 | c.395G= (p.Ser132=) c.281G= (p.Ser94=) n.425G= c.538G= c.-243G= (n.-243G=) | |
4 | g.186236847G>T | CA358945076 | KLKB1 | c.395G>T (p.Ser132Ile) c.281G>T (p.Ser94Ile) n.425G>T c.538G>T c.-243G>T (n.-243G>T) | |
4 | g.186236848C>A | CA358945078 | KLKB1 | c.396C>A (p.Ser132Arg) c.282C>A (p.Ser94Arg) n.426C>A c.539C>A c.-242C>A (n.-242C>A) | gnomAD v4 |
4 | g.186236848C= | CA1519902460 | KLKB1 | c.396C= (p.Ser132=) c.282C= (p.Ser94=) n.426C= c.539C= c.-242C= (n.-242C=) | |
4 | g.186236848C>G | CA358945080 | KLKB1 | c.396C>G (p.Ser132Arg) c.282C>G (p.Ser94Arg) n.426C>G c.539C>G c.-242C>G (n.-242C>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186236848C>T | CA442640270 | KLKB1 | c.396C>T (p.Ser132=) c.282C>T (p.Ser94=) n.426C>T c.539C>T c.-242C>T (n.-242C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186236849A>C | CA358945090 | KLKB1 | c.397A>C (p.Ser133Arg) c.283A>C (p.Ser95Arg) n.427A>C c.540A>C c.-241A>C (n.-241A>C) | |
4 | g.186236849A>G | CA358945086 | KLKB1 | c.397A>G (p.Ser133Gly) c.283A>G (p.Ser95Gly) n.427A>G c.540A>G c.-241A>G (n.-241A>G) | |
4 | g.186236849A>T | CA358945084 | KLKB1 | c.397A>T (p.Ser133Cys) c.283A>T (p.Ser95Cys) n.427A>T c.540A>T c.-241A>T (n.-241A>T) | |
4 | g.186236850G>A | CA358945093 | KLKB1 | c.398G>A (p.Ser133Asn) c.284G>A (p.Ser95Asn) n.428G>A c.541G>A c.-240G>A (n.-240G>A) | |
4 | g.186236850G>C | CA358945097 | KLKB1 | c.398G>C (p.Ser133Thr) c.284G>C (p.Ser95Thr) n.428G>C c.541G>C c.-240G>C (n.-240G>C) | |
4 | g.186236850G>T | CA358945095 | KLKB1 | c.398G>T (p.Ser133Ile) c.284G>T (p.Ser95Ile) n.428G>T c.541G>T c.-240G>T (n.-240G>T) | |
4 | g.186236851T>A | CA358945102 | KLKB1 | c.399T>A (p.Ser133Arg) c.285T>A (p.Ser95Arg) n.429T>A c.542T>A c.-239T>A (n.-239T>A) | |
4 | g.186236851T>C | CA442640275 | KLKB1 | c.399T>C (p.Ser133=) c.285T>C (p.Ser95=) n.429T>C c.542T>C c.-239T>C (n.-239T>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186236851T>G | CA358945104 | KLKB1 | c.399T>G (p.Ser133Arg) c.285T>G (p.Ser95Arg) n.429T>G c.542T>G c.-239T>G (n.-239T>G) | |
4 | g.186236851T= | CA1519902467 | KLKB1 | c.399T= (p.Ser133=) c.285T= (p.Ser95=) n.429T= c.542T= c.-239T= (n.-239T=) | |
4 | g.186236852G>A | CA358945106 | KLKB1 | c.400G>A (p.Val134Ile) c.286G>A (p.Val96Ile) n.430G>A c.543G>A c.-238G>A (n.-238G>A) | |
4 | g.186236852G>C | CA358945108 | KLKB1 | c.400G>C (p.Val134Leu) c.286G>C (p.Val96Leu) n.430G>C c.543G>C c.-238G>C (n.-238G>C) | |
4 | g.186236852G>T | CA358945110 | KLKB1 | c.400G>T (p.Val134Phe) c.286G>T (p.Val96Phe) n.430G>T c.543G>T c.-238G>T (n.-238G>T) | |
4 | g.186236853T>A | CA358945114 | KLKB1 | c.401T>A (p.Val134Asp) c.287T>A (p.Val96Asp) n.431T>A c.544T>A c.-237T>A (n.-237T>A) | |
4 | g.186236853T>C | CA358945116 | KLKB1 | c.401T>C (p.Val134Ala) c.287T>C (p.Val96Ala) n.431T>C c.544T>C c.-237T>C (n.-237T>C) | |
4 | g.186236853T>G | CA358945117 | KLKB1 | c.401T>G (p.Val134Gly) c.287T>G (p.Val96Gly) n.431T>G c.544T>G c.-237T>G (n.-237T>G) | |
4 | g.186236854T>A | CA442640277 | KLKB1 | c.402T>A (p.Val134=) c.288T>A (p.Val96=) n.432T>A c.545T>A c.-236T>A (n.-236T>A) | |
4 | g.186236854T>C | CA442640279 | KLKB1 | c.402T>C (p.Val134=) c.288T>C (p.Val96=) n.432T>C c.545T>C c.-236T>C (n.-236T>C) | |
4 | g.186236854T>G | CA442640278 | KLKB1 | c.402T>G (p.Val134=) c.288T>G (p.Val96=) n.432T>G c.545T>G c.-236T>G (n.-236T>G) | |
4 | g.186236855G>A | CA358945119 | KLKB1 | c.403G>A (p.Glu135Lys) c.289G>A (p.Glu97Lys) n.433G>A c.546G>A c.-235G>A (n.-235G>A) | gnomAD v3 gnomAD v4 |
4 | g.186236855G>C | CA358945121 | KLKB1 | c.403G>C (p.Glu135Gln) c.289G>C (p.Glu97Gln) n.433G>C c.546G>C c.-235G>C (n.-235G>C) | |
4 | g.186236855G>T | CA358945123 | KLKB1 | c.403G>T (p.Glu135Ter) c.289G>T (p.Glu97Ter) n.433G>T c.546G>T c.-235G>T (n.-235G>T) | |
4 | g.186236856A>C | CA358945127 | KLKB1 | c.404A>C (p.Glu135Ala) c.290A>C (p.Glu97Ala) n.434A>C c.547A>C c.-234A>C (n.-234A>C) | |
4 | g.186236856A>G | CA358945129 | KLKB1 | c.404A>G (p.Glu135Gly) c.290A>G (p.Glu97Gly) n.434A>G c.547A>G c.-234A>G (n.-234A>G) | |
4 | g.186236856A>T | CA358945132 | KLKB1 | c.404A>T (p.Glu135Val) c.290A>T (p.Glu97Val) n.434A>T c.547A>T c.-234A>T (n.-234A>T) | |
4 | g.186236857A>C | CA358945136 | KLKB1 | c.405A>C (p.Glu135Asp) c.291A>C (p.Glu97Asp) n.435A>C c.548A>C c.-233A>C (n.-233A>C) | COSMIC COSMIC |
4 | g.186236857A>G | CA442640282 | KLKB1 | c.405A>G (p.Glu135=) c.291A>G (p.Glu97=) n.435A>G c.548A>G c.-233A>G (n.-233A>G) | |
4 | g.186236857A>T | CA358945138 | KLKB1 | c.405A>T (p.Glu135Asp) c.291A>T (p.Glu97Asp) n.435A>T c.548A>T c.-233A>T (n.-233A>T) | |
4 | g.186236858G>A | CA358945140 | KLKB1 | c.406G>A (p.Glu136Lys) c.292G>A (p.Glu98Lys) n.436G>A c.549G>A c.-232G>A (n.-232G>A) | gnomAD v3 gnomAD v4 |
4 | g.186236858G>C | CA358945143 | KLKB1 | c.406G>C (p.Glu136Gln) c.292G>C (p.Glu98Gln) n.436G>C c.549G>C c.-232G>C (n.-232G>C) | |
4 | g.186236858G= | CA1519902471 | KLKB1 | c.406G= (p.Glu136=) c.292G= (p.Glu98=) n.436G= c.549G= c.-232G= (n.-232G=) | |
4 | g.186236858G>T | CA3163036 | KLKB1 | c.406G>T (p.Glu136Ter) c.292G>T (p.Glu98Ter) n.436G>T c.549G>T c.-232G>T (n.-232G>T) | dbSNP ExAC gnomAD v4 |
4 | g.186236859A>C | CA358945147 | KLKB1 | c.407A>C (p.Glu136Ala) c.293A>C (p.Glu98Ala) n.437A>C c.550A>C c.-231A>C (n.-231A>C) | |
4 | g.186236859A>G | CA358945149 | KLKB1 | c.407A>G (p.Glu136Gly) c.293A>G (p.Glu98Gly) n.437A>G c.550A>G c.-231A>G (n.-231A>G) | |
4 | g.186236859A>T | CA358945151 | KLKB1 | c.407A>T (p.Glu136Val) c.293A>T (p.Glu98Val) n.437A>T c.550A>T c.-231A>T (n.-231A>T) | |
4 | g.186236860A= | CA1519902478 | KLKB1 | c.408A= (p.Glu136=) c.294A= (p.Glu98=) n.438A= c.551A= c.-230A= (n.-230A=) | |
4 | g.186236860A>C | CA358945154 | KLKB1 | c.408A>C (p.Glu136Asp) c.294A>C (p.Glu98Asp) n.438A>C c.551A>C c.-230A>C (n.-230A>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186236860A>G | CA442640286 | KLKB1 | c.408A>G (p.Glu136=) c.294A>G (p.Glu98=) n.438A>G c.551A>G c.-230A>G (n.-230A>G) | |
4 | g.186236860A>T | CA358945156 | KLKB1 | c.408A>T (p.Glu136Asp) c.294A>T (p.Glu98Asp) n.438A>T c.551A>T c.-230A>T (n.-230A>T) | |
4 | g.186236861T>A | CA358945160 | KLKB1 | c.409T>A (p.Cys137Ser) c.295T>A (p.Cys99Ser) n.439T>A c.552T>A c.-229T>A (n.-229T>A) | |
4 | g.186236861T>C | CA358945161 | KLKB1 | c.409T>C (p.Cys137Arg) c.295T>C (p.Cys99Arg) n.439T>C c.552T>C c.-229T>C (n.-229T>C) | |
4 | g.186236861T>G | CA358945163 | KLKB1 | c.409T>G (p.Cys137Gly) c.295T>G (p.Cys99Gly) n.439T>G c.552T>G c.-229T>G (n.-229T>G) | |
4 | g.186236861_186236864del | CA1071987090 | KLKB1 | c.409_412del (p.Cys137LysfsTer?) c.295_298del (p.Cys99LysfsTer?) n.439_442del c.552_555del c.-229_-226del (n.-229_-226del) | gnomAD v3 gnomAD v4 |
4 | g.186236862G>A | CA358945168 | KLKB1 | c.410G>A (p.Cys137Tyr) c.296G>A (p.Cys99Tyr) n.440G>A c.553G>A c.-228G>A (n.-228G>A) | gnomAD v4 |
4 | g.186236862G>C | CA358945170 | KLKB1 | c.410G>C (p.Cys137Ser) c.296G>C (p.Cys99Ser) n.440G>C c.553G>C c.-228G>C (n.-228G>C) | |
4 | g.186236862G= | CA1519902481 | KLKB1 | c.410G= (p.Cys137=) c.296G= (p.Cys99=) n.440G= c.553G= c.-228G= (n.-228G=) | |
4 | g.186236862G>T | CA112111100 | KLKB1 | c.410G>T (p.Cys137Phe) c.296G>T (p.Cys99Phe) n.440G>T c.553G>T c.-228G>T (n.-228G>T) | dbSNP |
4 | g.186236863C>A | CA3163037 | KLKB1 | c.411C>A (p.Cys137Ter) c.297C>A (p.Cys99Ter) n.441C>A c.554C>A c.-227C>A (n.-227C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186236863C= | CA1519902483 | KLKB1 | c.411C= (p.Cys137=) c.297C= (p.Cys99=) n.441C= c.554C= c.-227C= (n.-227C=) | |
4 | g.186236863C>G | CA358945174 | KLKB1 | c.411C>G (p.Cys137Trp) c.297C>G (p.Cys99Trp) n.441C>G c.554C>G c.-227C>G (n.-227C>G) | dbSNP |
4 | g.186236863C>T | CA442640290 | KLKB1 | c.411C>T (p.Cys137=) c.297C>T (p.Cys99=) n.441C>T c.554C>T c.-227C>T (n.-227C>T) | |
4 | g.186236864C>A | CA358945177 | KLKB1 | c.412C>A (p.Gln138Lys) c.298C>A (p.Gln100Lys) n.442C>A c.555C>A c.-226C>A (n.-226C>A) | |
4 | g.186236864C>G | CA358945179 | KLKB1 | c.412C>G (p.Gln138Glu) c.298C>G (p.Gln100Glu) n.442C>G c.555C>G c.-226C>G (n.-226C>G) | |
4 | g.186236864C>T | CA358945181 | KLKB1 | c.412C>T (p.Gln138Ter) c.298C>T (p.Gln100Ter) n.442C>T c.555C>T c.-226C>T (n.-226C>T) | gnomAD v4 |
4 | g.186236864_186236865delinsCA | CA1519902488 | KLKB1 | c.412_413delinsCA (p.Gln138=) c.298_299delinsCA (p.Gln100=) n.442_443delinsCA c.555_556delinsCA c.-226_-225delinsCA (n.-226_-225delinsCA) | |
4 | g.186236865A= | CA1519902498 | KLKB1 | c.413A= (p.Gln138=) c.299A= (p.Gln100=) n.443A= c.556A= c.-225A= (n.-225A=) | |
4 | g.186236865A>C | CA358945184 | KLKB1 | c.413A>C (p.Gln138Pro) c.299A>C (p.Gln100Pro) n.443A>C c.556A>C c.-225A>C (n.-225A>C) | |
4 | g.186236865A>G | CA358945186 | KLKB1 | c.413A>G (p.Gln138Arg) c.299A>G (p.Gln100Arg) n.443A>G c.556A>G c.-225A>G (n.-225A>G) | gnomAD v4 |
4 | g.186236865A>T | CA358945189 | KLKB1 | c.413A>T (p.Gln138Leu) c.299A>T (p.Gln100Leu) n.443A>T c.556A>T c.-225A>T (n.-225A>T) | dbSNP |
4 | g.186236870_186236871insAAAAAAA | CA2764875560 | KLKB1 | c.418_419insAAAAAAA (p.Arg140LysfsTer7) c.304_305insAAAAAAA (p.Arg102LysfsTer7) n.448_449insAAAAAAA c.561_562insAAAAAAA c.-220_-219insAAAAAAA (n.-220_-219insAAAAAAA) | |
4 | g.186236870_186236871insAAAAAAAAA | CA2764875561 | KLKB1 | c.418_419insAAAAAAAAA (p.Lys139_Arg140insLysLysLys) c.304_305insAAAAAAAAA (p.Lys101_Arg102insLysLysLys) n.448_449insAAAAAAAAA c.561_562insAAAAAAAAA c.-220_-219insAAAAAAAAA (n.-220_-219insAAAAAAAAA) | |
4 | g.186236870dup | CA442640295 | KLKB1 | c.418dup (p.Arg140LysfsTer5) c.304dup (p.Arg102LysfsTer5) n.448dup c.561dup c.-220dup (n.-220dup) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.186236867_186236870dup | CA1071987103 | KLKB1 | c.415_418dup (p.Arg140LysfsTer6) c.301_304dup (p.Arg102LysfsTer6) n.445_448dup c.558_561dup c.-223_-220dup (n.-223_-220dup) | gnomAD v3 gnomAD v4 |
4 | g.186236870del | CA3163038 | KLKB1 | c.418del (p.Arg140GlyfsTer29) c.418del (p.Arg140GlyfsTer?) c.304del (p.Arg102GlyfsTer29) n.448del c.561del c.-220del (n.-220del) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.186236866A= | CA1519902503 | KLKB1 | c.414A= (p.Gln138=) c.300A= (p.Gln100=) n.444A= c.557A= c.-224A= (n.-224A=) | |
4 | g.186236866A>C | CA358945193 | KLKB1 | c.414A>C (p.Gln138His) c.300A>C (p.Gln100His) n.444A>C c.557A>C c.-224A>C (n.-224A>C) | |
4 | g.186236866A>G | CA3163039 | KLKB1 | c.414A>G (p.Gln138=) c.300A>G (p.Gln100=) n.444A>G c.557A>G c.-224A>G (n.-224A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186236866A>T | CA358945197 | KLKB1 | c.414A>T (p.Gln138His) c.300A>T (p.Gln100His) n.444A>T c.557A>T c.-224A>T (n.-224A>T) | |
4 | g.186236867A>C | CA358945203 | KLKB1 | c.415A>C (p.Lys139Gln) c.301A>C (p.Lys101Gln) n.445A>C c.558A>C c.-223A>C (n.-223A>C) | COSMIC COSMIC |
4 | g.186236867A>G | CA358945209 | KLKB1 | c.415A>G (p.Lys139Glu) c.301A>G (p.Lys101Glu) n.445A>G c.558A>G c.-223A>G (n.-223A>G) | |
4 | g.186236867A>T | CA358945201 | KLKB1 | c.415A>T (p.Lys139Ter) c.301A>T (p.Lys101Ter) n.445A>T c.558A>T c.-223A>T (n.-223A>T) | |
4 | g.186236868A= | CA1519902507 | KLKB1 | c.416A= (p.Lys139=) c.302A= (p.Lys101=) n.446A= c.559A= c.-222A= (n.-222A=) | |
4 | g.186236868A>C | CA358945213 | KLKB1 | c.416A>C (p.Lys139Thr) c.302A>C (p.Lys101Thr) n.446A>C c.559A>C c.-222A>C (n.-222A>C) | |
4 | g.186236868A>G | CA358945214 | KLKB1 | c.416A>G (p.Lys139Arg) c.302A>G (p.Lys101Arg) n.446A>G c.559A>G c.-222A>G (n.-222A>G) | |
4 | g.186236868A>T | CA358945216 | KLKB1 | c.416A>T (p.Lys139Ile) c.302A>T (p.Lys101Ile) n.446A>T c.559A>T c.-222A>T (n.-222A>T) | |
4 | g.186236869A>C | CA358945221 | KLKB1 | c.417A>C (p.Lys139Asn) c.303A>C (p.Lys101Asn) n.447A>C c.560A>C c.-221A>C (n.-221A>C) | gnomAD v4 |
4 | g.186236869A>G | CA442640298 | KLKB1 | c.417A>G (p.Lys139=) c.303A>G (p.Lys101=) n.447A>G c.560A>G c.-221A>G (n.-221A>G) | |
4 | g.186236869A>T | CA358945223 | KLKB1 | c.417A>T (p.Lys139Asn) c.303A>T (p.Lys101Asn) n.447A>T c.560A>T c.-221A>T (n.-221A>T) | |
4 | g.186236869_186236870insCATTCTTA | CA3163040 | KLKB1 | c.417_418insCATTCTTA (p.Arg140HisfsTer3) c.303_304insCATTCTTA (p.Arg102HisfsTer3) n.447_448insCATTCTTA c.560_561insCATTCTTA c.-221_-220insCATTCTTA (n.-221_-220insCATTCTTA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186236870A= | CA1519902515 | KLKB1 | c.418A= (p.Arg140=) c.304A= (p.Arg102=) n.448A= c.561A= c.-220A= (n.-220A=) | |
4 | g.186236870A>C | CA442640299 | KLKB1 | c.418A>C (p.Arg140=) c.304A>C (p.Arg102=) n.448A>C c.561A>C c.-220A>C (n.-220A>C) | |
4 | g.186236870A>G | CA3163041 | KLKB1 | c.418A>G (p.Arg140Gly) c.304A>G (p.Arg102Gly) n.448A>G c.561A>G c.-220A>G (n.-220A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186236870A>T | CA358945228 | KLKB1 | c.418A>T (p.Arg140Trp) c.304A>T (p.Arg102Trp) n.448A>T c.561A>T c.-220A>T (n.-220A>T) | |
4 | g.186236871G>A | CA358945231 | KLKB1 | c.419G>A (p.Arg140Lys) c.305G>A (p.Arg102Lys) n.449G>A c.562G>A c.-219G>A (n.-219G>A) | dbSNP gnomAD v4 |
4 | g.186236871G>C | CA358945233 | KLKB1 | c.419G>C (p.Arg140Thr) c.305G>C (p.Arg102Thr) n.449G>C c.562G>C c.-219G>C (n.-219G>C) | |
4 | g.186236871G= | CA1519902519 | KLKB1 | c.419G= (p.Arg140=) c.305G= (p.Arg102=) n.449G= c.562G= c.-219G= (n.-219G=) | |
4 | g.186236871G>T | CA358945235 | KLKB1 | c.419G>T (p.Arg140Met) c.305G>T (p.Arg102Met) n.449G>T c.562G>T c.-219G>T (n.-219G>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186236872G>A | CA442640308 | KLKB1 | c.420G>A (p.Arg140=) c.306G>A (p.Arg102=) n.450G>A c.563G>A c.-218G>A (n.-218G>A) | |
4 | g.186236872G>C | CA358945238 | KLKB1 | c.420G>C (p.Arg140Ser) c.306G>C (p.Arg102Ser) n.450G>C c.563G>C c.-218G>C (n.-218G>C) | |
4 | g.186236872G>T | CA358945240 | KLKB1 | c.420G>T (p.Arg140Ser) c.306G>T (p.Arg102Ser) n.450G>T c.563G>T c.-218G>T (n.-218G>T) | gnomAD v4 |
4 | g.186236873T>A | CA358945247 | KLKB1 | c.421T>A (p.Cys141Ser) c.307T>A (p.Cys103Ser) n.451T>A c.564T>A c.-217T>A (n.-217T>A) | |
4 | g.186236873T>C | CA358945245 | KLKB1 | c.421T>C (p.Cys141Arg) c.307T>C (p.Cys103Arg) n.451T>C c.564T>C c.-217T>C (n.-217T>C) | |
4 | g.186236873T>G | CA358945243 | KLKB1 | c.421T>G (p.Cys141Gly) c.307T>G (p.Cys103Gly) n.451T>G c.564T>G c.-217T>G (n.-217T>G) | |
4 | g.186236874G>A | CA358945250 | KLKB1 | c.422G>A (p.Cys141Tyr) c.308G>A (p.Cys103Tyr) n.452G>A c.565G>A c.-216G>A (n.-216G>A) | COSMIC COSMIC |
4 | g.186236874G>C | CA358945254 | KLKB1 | c.422G>C (p.Cys141Ser) c.308G>C (p.Cys103Ser) n.452G>C c.565G>C c.-216G>C (n.-216G>C) | |
4 | g.186236874G>T | CA358945252 | KLKB1 | c.422G>T (p.Cys141Phe) c.308G>T (p.Cys103Phe) n.452G>T c.565G>T c.-216G>T (n.-216G>T) | |
4 | g.186236875C>A | CA358945258 | KLKB1 | c.423C>A (p.Cys141Ter) c.309C>A (p.Cys103Ter) n.453C>A c.566C>A c.-215C>A (n.-215C>A) | |
4 | g.186236875C>G | CA358945260 | KLKB1 | c.423C>G (p.Cys141Trp) c.309C>G (p.Cys103Trp) n.453C>G c.566C>G c.-215C>G (n.-215C>G) | |
4 | g.186236875C>T | CA442640321 | KLKB1 | c.423C>T (p.Cys141=) c.309C>T (p.Cys103=) n.453C>T c.566C>T c.-215C>T (n.-215C>T) | |
4 | g.186236876A= | CA1519902534 | KLKB1 | c.424A= (p.Thr142=) c.310A= (p.Thr104=) n.454A= c.567A= c.-214A= (n.-214A=) | |
4 | g.186236876A>C | CA358945263 | KLKB1 | c.424A>C (p.Thr142Pro) c.310A>C (p.Thr104Pro) n.454A>C c.567A>C c.-214A>C (n.-214A>C) | |
4 | g.186236876A>G | CA3163042 | KLKB1 | c.424A>G (p.Thr142Ala) c.310A>G (p.Thr104Ala) n.454A>G c.567A>G c.-214A>G (n.-214A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186236876A>T | CA358945266 | KLKB1 | c.424A>T (p.Thr142Ser) c.310A>T (p.Thr104Ser) n.454A>T c.567A>T c.-214A>T (n.-214A>T) | COSMIC COSMIC |
4 | g.186236877C>A | CA358945269 | KLKB1 | c.425C>A (p.Thr142Asn) c.311C>A (p.Thr104Asn) n.455C>A c.568C>A c.-213C>A (n.-213C>A) | |
4 | g.186236877C= | CA1519902540 | KLKB1 | c.425C= (p.Thr142=) c.311C= (p.Thr104=) n.455C= c.568C= c.-213C= (n.-213C=) | |
4 | g.186236877C>G | CA3163043 | KLKB1 | c.425C>G (p.Thr142Ser) c.311C>G (p.Thr104Ser) n.455C>G c.568C>G c.-213C>G (n.-213C>G) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
4 | g.186236877C>T | CA112111128 | KLKB1 | c.425C>T (p.Thr142Ile) c.311C>T (p.Thr104Ile) n.455C>T c.568C>T c.-213C>T (n.-213C>T) | dbSNP gnomAD v4 |
4 | g.186236878C>A | CA442640325 | KLKB1 | c.426C>A (p.Thr142=) c.312C>A (p.Thr104=) n.456C>A c.569C>A c.-212C>A (n.-212C>A) | COSMIC COSMIC |
4 | g.186236878C= | CA1519902546 | KLKB1 | c.426C= (p.Thr142=) c.312C= (p.Thr104=) n.456C= c.569C= c.-212C= (n.-212C=) | |
4 | g.186236878C>G | CA442640326 | KLKB1 | c.426C>G (p.Thr142=) c.312C>G (p.Thr104=) n.456C>G c.569C>G c.-212C>G (n.-212C>G) | |
4 | g.186236878C>T | CA442640327 | KLKB1 | c.426C>T (p.Thr142=) c.312C>T (p.Thr104=) n.456C>T c.569C>T c.-212C>T (n.-212C>T) | dbSNP gnomAD v2 |
4 | g.186236879A= | CA1519902550 | KLKB1 | c.427A= (p.Ser143=) c.313A= (p.Ser105=) n.457A= c.570A= c.-211A= (n.-211A=) | |
4 | g.186236879A>C | CA358945276 | KLKB1 | c.427A>C (p.Ser143Arg) c.313A>C (p.Ser105Arg) n.457A>C c.570A>C c.-211A>C (n.-211A>C) | |
4 | g.186236879A>G | CA3163044 | KLKB1 | c.427A>G (p.Ser143Gly) c.313A>G (p.Ser105Gly) n.457A>G c.570A>G c.-211A>G (n.-211A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186236879A>T | CA358945278 | KLKB1 | c.427A>T (p.Ser143Cys) c.313A>T (p.Ser105Cys) n.457A>T c.570A>T c.-211A>T (n.-211A>T) | |
4 | g.186236880G>A | CA121835 | KLKB1 | c.428G>A (p.Ser143Asn) c.314G>A (p.Ser105Asn) n.458G>A c.571G>A c.-210G>A (n.-210G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186236880G>C | CA112111154 | KLKB1 | c.428G>C (p.Ser143Thr) c.314G>C (p.Ser105Thr) n.458G>C c.571G>C c.-210G>C (n.-210G>C) | dbSNP |
4 | g.186236880G= | CA1519902567 | KLKB1 | c.428G= (p.Ser143=) c.314G= (p.Ser105=) n.458G= c.571G= c.-210G= (n.-210G=) | |
4 | g.186236880G>T | CA358945284 | KLKB1 | c.428G>T (p.Ser143Ile) c.314G>T (p.Ser105Ile) n.458G>T c.571G>T c.-210G>T (n.-210G>T) |