Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.174571990C>A | CA349341609 | WIPF1 | c.815G>T (p.Gly272Val) n.820G>T c.437G>T (p.Gly146Val) | gnomAD v4 |
2 | g.174571990C= | CA1308757387 | WIPF1 | c.815G= (p.Gly272=) n.820G= c.437G= (p.Gly146=) | |
2 | g.174571990C>G | CA349341611 | WIPF1 | c.815G>C (p.Gly272Ala) n.820G>C c.437G>C (p.Gly146Ala) | |
2 | g.174571990C>T | CA1974057 | WIPF1 | c.815G>A (p.Gly272Asp) n.820G>A c.437G>A (p.Gly146Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.174571991C>A | CA349341613 | WIPF1 | c.814G>T (p.Gly272Cys) n.819G>T c.436G>T (p.Gly146Cys) | |
2 | g.174571991C>G | CA349341615 | WIPF1 | c.814G>C (p.Gly272Arg) n.819G>C c.436G>C (p.Gly146Arg) | |
2 | g.174571991C>T | CA349341617 | WIPF1 | c.814G>A (p.Gly272Ser) n.819G>A c.436G>A (p.Gly146Ser) | |
2 | g.174571992C>A | CA430228733 | WIPF1 | c.813G>T (p.Val271=) n.818G>T c.435G>T (p.Val145=) | gnomAD v4 |
2 | g.174571992C= | CA1308757388 | WIPF1 | c.813G= (p.Val271=) n.818G= c.435G= (p.Val145=) | |
2 | g.174571992C>G | CA430228735 | WIPF1 | c.813G>C (p.Val271=) n.818G>C c.435G>C (p.Val145=) | |
2 | g.174571992C>T | CA430228736 | WIPF1 | c.813G>A (p.Val271=) n.818G>A c.435G>A (p.Val145=) | dbSNP |
2 | g.174571993A= | CA1308757389 | WIPF1 | c.812T= (p.Val271=) n.817T= c.434T= (p.Val145=) | |
2 | g.174571993A>C | CA349341619 | WIPF1 | c.812T>G (p.Val271Gly) n.817T>G c.434T>G (p.Val145Gly) | |
2 | g.174571993A>G | CA349341621 | WIPF1 | c.812T>C (p.Val271Ala) n.817T>C c.434T>C (p.Val145Ala) | dbSNP |
2 | g.174571993A>T | CA349341623 | WIPF1 | c.812T>A (p.Val271Glu) n.817T>A c.434T>A (p.Val145Glu) | |
2 | g.174571994C>A | CA349341630 | WIPF1 | c.811G>T (p.Val271Leu) n.816G>T c.433G>T (p.Val145Leu) | |
2 | g.174571994C= | CA1308757390 | WIPF1 | c.811G= (p.Val271=) n.816G= c.433G= (p.Val145=) | |
2 | g.174571994C>G | CA349341628 | WIPF1 | c.811G>C (p.Val271Leu) n.816G>C c.433G>C (p.Val145Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.174571994C>T | CA349341625 | WIPF1 | c.811G>A (p.Val271Met) n.816G>A c.433G>A (p.Val145Met) | ClinVar dbSNP |
2 | g.174571995T>A | CA430228739 | WIPF1 | c.810A>T (p.Pro270=) n.815A>T c.432A>T (p.Pro144=) | |
2 | g.174571995T>C | CA1974058 | WIPF1 | c.810A>G (p.Pro270=) n.815A>G c.432A>G (p.Pro144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.174571995T>G | CA430228740 | WIPF1 | c.810A>C (p.Pro270=) n.815A>C c.432A>C (p.Pro144=) | |
2 | g.174571995T= | CA1308757391 | WIPF1 | c.810A= (p.Pro270=) n.815A= c.432A= (p.Pro144=) | |
2 | g.174571996G>A | CA349341632 | WIPF1 | c.809C>T (p.Pro270Leu) n.814C>T c.431C>T (p.Pro144Leu) | dbSNP |
2 | g.174571996G>C | CA349341634 | WIPF1 | c.809C>G (p.Pro270Arg) n.814C>G c.431C>G (p.Pro144Arg) | |
2 | g.174571996G= | CA1308757392 | WIPF1 | c.809C= (p.Pro270=) n.814C= c.431C= (p.Pro144=) | |
2 | g.174571996G>T | CA349341636 | WIPF1 | c.809C>A (p.Pro270Gln) n.814C>A c.431C>A (p.Pro144Gln) | |
2 | g.174572001_174572003del | CA537975061 | WIPF1 | c.807_809del (p.Pro270del) n.812_814del c.429_431del (p.Pro144del) | gnomAD v2 |
2 | g.174571997G>A | CA349341638 | WIPF1 | c.808C>T (p.Pro270Ser) n.813C>T c.430C>T (p.Pro144Ser) | |
2 | g.174571997G>C | CA349341640 | WIPF1 | c.808C>G (p.Pro270Ala) n.813C>G c.430C>G (p.Pro144Ala) | |
2 | g.174571997G>T | CA349341642 | WIPF1 | c.808C>A (p.Pro270Thr) n.813C>A c.430C>A (p.Pro144Thr) | |
2 | g.174571998A>C | CA430228744 | WIPF1 | c.807T>G (p.Pro269=) n.812T>G c.429T>G (p.Pro143=) | |
2 | g.174571998A>G | CA430228745 | WIPF1 | c.807T>C (p.Pro269=) n.812T>C c.429T>C (p.Pro143=) | |
2 | g.174571998A>T | CA430228746 | WIPF1 | c.807T>A (p.Pro269=) n.812T>A c.429T>A (p.Pro143=) | |
2 | g.174571999G>A | CA349341644 | WIPF1 | c.806C>T (p.Pro269Leu) n.811C>T c.428C>T (p.Pro143Leu) | gnomAD v4 |
2 | g.174571999G>C | CA349341646 | WIPF1 | c.806C>G (p.Pro269Arg) n.811C>G c.428C>G (p.Pro143Arg) | |
2 | g.174571999G>T | CA349341648 | WIPF1 | c.806C>A (p.Pro269His) n.811C>A c.428C>A (p.Pro143His) | |
2 | g.174572000G>A | CA349341650 | WIPF1 | c.805C>T (p.Pro269Ser) n.810C>T c.427C>T (p.Pro143Ser) | gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.174572000G>C | CA349341651 | WIPF1 | c.805C>G (p.Pro269Ala) n.810C>G c.427C>G (p.Pro143Ala) | |
2 | g.174572000G>T | CA349341653 | WIPF1 | c.805C>A (p.Pro269Thr) n.810C>A c.427C>A (p.Pro143Thr) | |
2 | g.174572001A>C | CA430228749 | WIPF1 | c.804T>G (p.Pro268=) n.809T>G c.426T>G (p.Pro142=) | |
2 | g.174572001A>G | CA430228751 | WIPF1 | c.804T>C (p.Pro268=) n.809T>C c.426T>C (p.Pro142=) | |
2 | g.174572001A>T | CA430228750 | WIPF1 | c.804T>A (p.Pro268=) n.809T>A c.426T>A (p.Pro142=) | |
2 | g.174572002G>A | CA349341659 | WIPF1 | c.803C>T (p.Pro268Leu) n.808C>T c.425C>T (p.Pro142Leu) | gnomAD v4 |
2 | g.174572002G>C | CA349341656 | WIPF1 | c.803C>G (p.Pro268Arg) n.808C>G c.425C>G (p.Pro142Arg) | |
2 | g.174572002G>T | CA349341658 | WIPF1 | c.803C>A (p.Pro268His) n.808C>A c.425C>A (p.Pro142His) | gnomAD v4 |
2 | g.174572003G>A | CA349341661 | WIPF1 | c.802C>T (p.Pro268Ser) n.807C>T c.424C>T (p.Pro142Ser) | gnomAD v4 |
2 | g.174572003G>C | CA349341663 | WIPF1 | c.802C>G (p.Pro268Ala) n.807C>G c.424C>G (p.Pro142Ala) | |
2 | g.174572003G= | CA1308757393 | WIPF1 | c.802C= (p.Pro268=) n.807C= c.424C= (p.Pro142=) | |
2 | g.174572003G>T | CA349341665 | WIPF1 | c.802C>A (p.Pro268Thr) n.807C>A c.424C>A (p.Pro142Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.174572004T>A | CA430228755 | WIPF1 | c.801A>T (p.Pro267=) n.806A>T c.423A>T (p.Pro141=) | |
2 | g.174572004T>C | CA430228754 | WIPF1 | c.801A>G (p.Pro267=) n.806A>G c.423A>G (p.Pro141=) | |
2 | g.174572004T>G | CA430228753 | WIPF1 | c.801A>C (p.Pro267=) n.806A>C c.423A>C (p.Pro141=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.174572004T= | CA1308757394 | WIPF1 | c.801A= (p.Pro267=) n.806A= c.423A= (p.Pro141=) | |
2 | g.174572005G>A | CA349341667 | WIPF1 | c.800C>T (p.Pro267Leu) n.805C>T c.422C>T (p.Pro141Leu) | gnomAD v4 |
2 | g.174572005G>C | CA349341669 | WIPF1 | c.800C>G (p.Pro267Arg) n.805C>G c.422C>G (p.Pro141Arg) | |
2 | g.174572005G>T | CA349341671 | WIPF1 | c.800C>A (p.Pro267Gln) n.805C>A c.422C>A (p.Pro141Gln) | |
2 | g.174572006G>A | CA349341673 | WIPF1 | c.799C>T (p.Pro267Ser) n.804C>T c.421C>T (p.Pro141Ser) | dbSNP gnomAD v4 |
2 | g.174572006G>C | CA349341675 | WIPF1 | c.799C>G (p.Pro267Ala) n.804C>G c.421C>G (p.Pro141Ala) | |
2 | g.174572006G= | CA1308757395 | WIPF1 | c.799C= (p.Pro267=) n.804C= c.421C= (p.Pro141=) | |
2 | g.174572006G>T | CA349341677 | WIPF1 | c.799C>A (p.Pro267Thr) n.804C>A c.421C>A (p.Pro141Thr) | |
2 | g.174572007T>A | CA430228756 | WIPF1 | c.798A>T (p.Pro266=) n.803A>T c.420A>T (p.Pro140=) | |
2 | g.174572007T>C | CA1974059 | WIPF1 | c.798A>G (p.Pro266=) n.803A>G c.420A>G (p.Pro140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174572007T>G | CA430228757 | WIPF1 | c.798A>C (p.Pro266=) n.803A>C c.420A>C (p.Pro140=) | dbSNP |
2 | g.174572007T= | CA1308757396 | WIPF1 | c.798A= (p.Pro266=) n.803A= c.420A= (p.Pro140=) | |
2 | g.174572008G>A | CA349341680 | WIPF1 | c.797C>T (p.Pro266Leu) n.802C>T c.419C>T (p.Pro140Leu) | dbSNP gnomAD v2 |
2 | g.174572008G>C | CA349341682 | WIPF1 | c.797C>G (p.Pro266Arg) n.802C>G c.419C>G (p.Pro140Arg) | |
2 | g.174572008G= | CA1308757397 | WIPF1 | c.797C= (p.Pro266=) n.802C= c.419C= (p.Pro140=) | |
2 | g.174572008G>T | CA349341684 | WIPF1 | c.797C>A (p.Pro266Gln) n.802C>A c.419C>A (p.Pro140Gln) | |
2 | g.174572009G>A | CA349341688 | WIPF1 | c.796C>T (p.Pro266Ser) n.801C>T c.418C>T (p.Pro140Ser) | |
2 | g.174572009G>C | CA349341690 | WIPF1 | c.796C>G (p.Pro266Ala) n.801C>G c.418C>G (p.Pro140Ala) | |
2 | g.174572009G>T | CA349341686 | WIPF1 | c.796C>A (p.Pro266Thr) n.801C>A c.418C>A (p.Pro140Thr) | |
2 | g.174572010A>C | CA430228758 | WIPF1 | c.795T>G (p.Pro265=) n.800T>G c.417T>G (p.Pro139=) | |
2 | g.174572010A>G | CA430228759 | WIPF1 | c.795T>C (p.Pro265=) n.800T>C c.417T>C (p.Pro139=) | |
2 | g.174572010A>T | CA430228760 | WIPF1 | c.795T>A (p.Pro265=) n.800T>A c.417T>A (p.Pro139=) | |
2 | g.174572011G>A | CA349341692 | WIPF1 | c.794C>T (p.Pro265Leu) n.799C>T c.416C>T (p.Pro139Leu) | dbSNP |
2 | g.174572011G>C | CA349341694 | WIPF1 | c.794C>G (p.Pro265Arg) n.799C>G c.416C>G (p.Pro139Arg) | |
2 | g.174572011G= | CA1308757398 | WIPF1 | c.794C= (p.Pro265=) n.799C= c.416C= (p.Pro139=) | |
2 | g.174572011G>T | CA349341696 | WIPF1 | c.794C>A (p.Pro265His) n.799C>A c.416C>A (p.Pro139His) | |
2 | g.174572015del | CA2662015915 | WIPF1 | c.794del (p.Pro265LeufsTer?) n.799del c.416del (p.Pro139LeufsTer?) | gnomAD v4 |
2 | g.174572012G>A | CA349341697 | WIPF1 | c.793C>T (p.Pro265Ser) n.798C>T c.415C>T (p.Pro139Ser) | |
2 | g.174572012G>C | CA349341698 | WIPF1 | c.793C>G (p.Pro265Ala) n.798C>G c.415C>G (p.Pro139Ala) | |
2 | g.174572012G>T | CA349341700 | WIPF1 | c.793C>A (p.Pro265Thr) n.798C>A c.415C>A (p.Pro139Thr) | |
2 | g.174572013G>A | CA430228761 | WIPF1 | c.792C>T (p.Pro264=) n.797C>T c.414C>T (p.Pro138=) | gnomAD v4 |
2 | g.174572013G>C | CA430228762 | WIPF1 | c.792C>G (p.Pro264=) n.797C>G c.414C>G (p.Pro138=) | |
2 | g.174572013G>T | CA430228763 | WIPF1 | c.792C>A (p.Pro264=) n.797C>A c.414C>A (p.Pro138=) | |
2 | g.174572014G>A | CA349341707 | WIPF1 | c.791C>T (p.Pro264Leu) n.796C>T c.413C>T (p.Pro138Leu) | gnomAD v4 |
2 | g.174572014G>C | CA349341703 | WIPF1 | c.791C>G (p.Pro264Arg) n.796C>G c.413C>G (p.Pro138Arg) | |
2 | g.174572014G= | CA1308757399 | WIPF1 | c.791C= (p.Pro264=) n.796C= c.413C= (p.Pro138=) | |
2 | g.174572014G>T | CA349341705 | WIPF1 | c.791C>A (p.Pro264His) n.796C>A c.413C>A (p.Pro138His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174572015G>A | CA349341715 | WIPF1 | c.790C>T (p.Pro264Ser) n.795C>T c.412C>T (p.Pro138Ser) | gnomAD v4 |
2 | g.174572015G>C | CA349341717 | WIPF1 | c.790C>G (p.Pro264Ala) n.795C>G c.412C>G (p.Pro138Ala) | |
2 | g.174572015G>T | CA349341719 | WIPF1 | c.790C>A (p.Pro264Thr) n.795C>A c.412C>A (p.Pro138Thr) | |
2 | g.174572016T>A | CA349341720 | WIPF1 | c.789A>T (p.Lys263Asn) n.794A>T c.411A>T (p.Lys137Asn) | |
2 | g.174572016T>C | CA430228764 | WIPF1 | c.789A>G (p.Lys263=) n.794A>G c.411A>G (p.Lys137=) | |
2 | g.174572016T>G | CA349341722 | WIPF1 | c.789A>C (p.Lys263Asn) n.794A>C c.411A>C (p.Lys137Asn) | dbSNP gnomAD v4 |
2 | g.174572016T= | CA1308757400 | WIPF1 | c.789A= (p.Lys263=) n.794A= c.411A= (p.Lys137=) | |
2 | g.174572017T>A | CA349341729 | WIPF1 | c.788A>T (p.Lys263Ile) n.793A>T c.410A>T (p.Lys137Ile) | |
2 | g.174572017T>C | CA349341725 | WIPF1 | c.788A>G (p.Lys263Arg) n.793A>G c.410A>G (p.Lys137Arg) | |
2 | g.174572017T>G | CA349341727 | WIPF1 | c.788A>C (p.Lys263Thr) n.793A>C c.410A>C (p.Lys137Thr) | |
2 | g.174572018T>A | CA349341731 | WIPF1 | c.787A>T (p.Lys263Ter) n.792A>T c.409A>T (p.Lys137Ter) | |
2 | g.174572018T>C | CA349341733 | WIPF1 | c.787A>G (p.Lys263Glu) n.792A>G c.409A>G (p.Lys137Glu) | |
2 | g.174572018T>G | CA349341734 | WIPF1 | c.787A>C (p.Lys263Gln) n.792A>C c.409A>C (p.Lys137Gln) | |
2 | g.174572019G>A | CA430228765 | WIPF1 | c.786C>T (p.Asp262=) n.791C>T c.408C>T (p.Asp136=) | |
2 | g.174572019G>C | CA349341735 | WIPF1 | c.786C>G (p.Asp262Glu) n.791C>G c.408C>G (p.Asp136Glu) | |
2 | g.174572019G>T | CA349341737 | WIPF1 | c.786C>A (p.Asp262Glu) n.791C>A c.408C>A (p.Asp136Glu) | gnomAD v4 |
2 | g.174572020T>A | CA349341739 | WIPF1 | c.785A>T (p.Asp262Val) n.790A>T c.407A>T (p.Asp136Val) | |
2 | g.174572020T>C | CA349341740 | WIPF1 | c.785A>G (p.Asp262Gly) n.790A>G c.407A>G (p.Asp136Gly) | gnomAD v4 |
2 | g.174572020T>G | CA349341742 | WIPF1 | c.785A>C (p.Asp262Ala) n.790A>C c.407A>C (p.Asp136Ala) | |
2 | g.174572021C>A | CA349341743 | WIPF1 | c.784G>T (p.Asp262Tyr) n.789G>T c.406G>T (p.Asp136Tyr) | COSMIC COSMIC COSMIC |
2 | g.174572021C= | CA1308757401 | WIPF1 | c.784G= (p.Asp262=) n.789G= c.406G= (p.Asp136=) | |
2 | g.174572021C>G | CA349341745 | WIPF1 | c.784G>C (p.Asp262His) n.789G>C c.406G>C (p.Asp136His) | |
2 | g.174572021C>T | CA1974060 | WIPF1 | c.784G>A (p.Asp262Asn) n.789G>A c.406G>A (p.Asp136Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.174572022A>C | CA349341750 | WIPF1 | c.783T>G (p.Asp261Glu) n.788T>G c.405T>G (p.Asp135Glu) | |
2 | g.174572022A>G | CA430228770 | WIPF1 | c.783T>C (p.Asp261=) n.788T>C c.405T>C (p.Asp135=) | |
2 | g.174572022A>T | CA349341752 | WIPF1 | c.783T>A (p.Asp261Glu) n.788T>A c.405T>A (p.Asp135Glu) | |
2 | g.174572023T>A | CA349341757 | WIPF1 | c.782A>T (p.Asp261Val) n.787A>T c.404A>T (p.Asp135Val) | |
2 | g.174572023T>C | CA349341755 | WIPF1 | c.782A>G (p.Asp261Gly) n.787A>G c.404A>G (p.Asp135Gly) | |
2 | g.174572023T>G | CA349341756 | WIPF1 | c.782A>C (p.Asp261Ala) n.787A>C c.404A>C (p.Asp135Ala) | |
2 | g.174572024C>A | CA349341758 | WIPF1 | c.781G>T (p.Asp261Tyr) n.786G>T c.403G>T (p.Asp135Tyr) | dbSNP |
2 | g.174572024C= | CA1308757402 | WIPF1 | c.781G= (p.Asp261=) n.786G= c.403G= (p.Asp135=) | |
2 | g.174572024C>G | CA349341759 | WIPF1 | c.781G>C (p.Asp261His) n.786G>C c.403G>C (p.Asp135His) | |
2 | g.174572024C>T | CA349341760 | WIPF1 | c.781G>A (p.Asp261Asn) n.786G>A c.403G>A (p.Asp135Asn) | |
2 | g.174572025C>A | CA349341761 | WIPF1 | c.780G>T (p.Leu260Phe) n.785G>T c.402G>T (p.Leu134Phe) | |
2 | g.174572025C>G | CA349341762 | WIPF1 | c.780G>C (p.Leu260Phe) n.785G>C c.402G>C (p.Leu134Phe) | |
2 | g.174572025C>T | CA430228774 | WIPF1 | c.780G>A (p.Leu260=) n.785G>A c.402G>A (p.Leu134=) | |
2 | g.174572026A>C | CA349341763 | WIPF1 | c.779T>G (p.Leu260Trp) n.784T>G c.401T>G (p.Leu134Trp) | |
2 | g.174572026A>G | CA349341764 | WIPF1 | c.779T>C (p.Leu260Ser) n.784T>C c.401T>C (p.Leu134Ser) | gnomAD v4 |
2 | g.174572026A>T | CA349341765 | WIPF1 | c.779T>A (p.Leu260Ter) n.784T>A c.401T>A (p.Leu134Ter) | |
2 | g.174572027A= | CA1308757403 | WIPF1 | c.778T= (p.Leu260=) n.783T= c.400T= (p.Leu134=) | |
2 | g.174572027A>C | CA349341766 | WIPF1 | c.778T>G (p.Leu260Val) n.783T>G c.400T>G (p.Leu134Val) | |
2 | g.174572027A>G | CA430228775 | WIPF1 | c.778T>C (p.Leu260=) n.783T>C c.400T>C (p.Leu134=) | gnomAD v4 |
2 | g.174572027A>T | CA349341767 | WIPF1 | c.778T>A (p.Leu260Met) n.783T>A c.400T>A (p.Leu134Met) | ClinVar dbSNP gnomAD v4 |
2 | g.174572028G>A | CA430228777 | WIPF1 | c.777C>T (p.Ala259=) n.782C>T c.399C>T (p.Ala133=) | |
2 | g.174572028G>C | CA430228778 | WIPF1 | c.777C>G (p.Ala259=) n.782C>G c.399C>G (p.Ala133=) | |
2 | g.174572028G>T | CA430228779 | WIPF1 | c.777C>A (p.Ala259=) n.782C>A c.399C>A (p.Ala133=) | |
2 | g.174572029G>A | CA1974061 | WIPF1 | c.776C>T (p.Ala259Val) n.781C>T c.398C>T (p.Ala133Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174572029G>C | CA349341768 | WIPF1 | c.776C>G (p.Ala259Gly) n.781C>G c.398C>G (p.Ala133Gly) | |
2 | g.174572029G= | CA1308757404 | WIPF1 | c.776C= (p.Ala259=) n.781C= c.398C= (p.Ala133=) | |
2 | g.174572029G>T | CA349341769 | WIPF1 | c.776C>A (p.Ala259Asp) n.781C>A c.398C>A (p.Ala133Asp) | |
2 | g.174572030C>A | CA349341772 | WIPF1 | c.775G>T (p.Ala259Ser) n.780G>T c.397G>T (p.Ala133Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.174572030C= | CA1308757405 | WIPF1 | c.775G= (p.Ala259=) n.780G= c.397G= (p.Ala133=) | |
2 | g.174572030C>G | CA349341771 | WIPF1 | c.775G>C (p.Ala259Pro) n.780G>C c.397G>C (p.Ala133Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.174572030C>T | CA349341770 | WIPF1 | c.775G>A (p.Ala259Thr) n.780G>A c.397G>A (p.Ala133Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.174572031C>A | CA349341773 | WIPF1 | c.774G>T (p.Arg258Ser) n.779G>T c.396G>T (p.Arg132Ser) | |
2 | g.174572031C= | CA1308757406 | WIPF1 | c.774G= (p.Arg258=) n.779G= c.396G= (p.Arg132=) | |
2 | g.174572031C>G | CA349341774 | WIPF1 | c.774G>C (p.Arg258Ser) n.779G>C c.396G>C (p.Arg132Ser) | |
2 | g.174572031C>T | CA1974062 | WIPF1 | c.774G>A (p.Arg258=) n.779G>A c.396G>A (p.Arg132=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.174572032C>A | CA349341775 | WIPF1 | c.773G>T (p.Arg258Met) n.778G>T c.395G>T (p.Arg132Met) | |
2 | g.174572032C>G | CA349341776 | WIPF1 | c.773G>C (p.Arg258Thr) n.778G>C c.395G>C (p.Arg132Thr) | gnomAD v4 |
2 | g.174572032C>T | CA349341777 | WIPF1 | c.773G>A (p.Arg258Lys) n.778G>A c.395G>A (p.Arg132Lys) | |
2 | g.174572033T>A | CA349341778 | WIPF1 | c.772A>T (p.Arg258Trp) n.777A>T c.394A>T (p.Arg132Trp) | |
2 | g.174572033T>C | CA349341779 | WIPF1 | c.772A>G (p.Arg258Gly) n.777A>G c.394A>G (p.Arg132Gly) | |
2 | g.174572033T>G | CA430228780 | WIPF1 | c.772A>C (p.Arg258=) n.777A>C c.394A>C (p.Arg132=) | |
2 | g.174572034G>A | CA430228781 | WIPF1 | c.771C>T (p.Ser257=) n.776C>T c.393C>T (p.Ser131=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.174572034G>C | CA349341780 | WIPF1 | c.771C>G (p.Ser257Arg) n.776C>G c.393C>G (p.Ser131Arg) | |
2 | g.174572034G= | CA1308757407 | WIPF1 | c.771C= (p.Ser257=) n.776C= c.393C= (p.Ser131=) | |
2 | g.174572034G>T | CA349341781 | WIPF1 | c.771C>A (p.Ser257Arg) n.776C>A c.393C>A (p.Ser131Arg) | |
2 | g.174572035C>A | CA349341782 | WIPF1 | c.770G>T (p.Ser257Ile) n.775G>T c.392G>T (p.Ser131Ile) | |
2 | g.174572035C= | CA1308757408 | WIPF1 | c.770G= (p.Ser257=) n.775G= c.392G= (p.Ser131=) | |
2 | g.174572035C>G | CA349341783 | WIPF1 | c.770G>C (p.Ser257Thr) n.775G>C c.392G>C (p.Ser131Thr) | dbSNP gnomAD v2 |
2 | g.174572035C>T | CA349341784 | WIPF1 | c.770G>A (p.Ser257Asn) n.775G>A c.392G>A (p.Ser131Asn) | |
2 | g.174572036T>A | CA349341787 | WIPF1 | c.769A>T (p.Ser257Cys) n.774A>T c.391A>T (p.Ser131Cys) | |
2 | g.174572036T>C | CA349341786 | WIPF1 | c.769A>G (p.Ser257Gly) n.774A>G c.391A>G (p.Ser131Gly) | gnomAD v4 |
2 | g.174572036T>G | CA349341785 | WIPF1 | c.769A>C (p.Ser257Arg) n.774A>C c.391A>C (p.Ser131Arg) | |
2 | g.174572037G>A | CA1974063 | WIPF1 | c.768C>T (p.Pro256=) n.773C>T c.390C>T (p.Pro130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174572037G>C | CA430228785 | WIPF1 | c.768C>G (p.Pro256=) n.773C>G c.390C>G (p.Pro130=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.174572037G= | CA1308757409 | WIPF1 | c.768C= (p.Pro256=) n.773C= c.390C= (p.Pro130=) | |
2 | g.174572037G>T | CA430228786 | WIPF1 | c.768C>A (p.Pro256=) n.773C>A c.390C>A (p.Pro130=) | dbSNP |
2 | g.174572041del | CA2662015945 | WIPF1 | c.768del (p.Ser257AlafsTer?) n.773del c.390del (p.Ser131AlafsTer?) | gnomAD v4 |
2 | g.174572038G>A | CA349341790 | WIPF1 | c.767C>T (p.Pro256Leu) n.772C>T c.389C>T (p.Pro130Leu) | dbSNP |
2 | g.174572038G>C | CA349341788 | WIPF1 | c.767C>G (p.Pro256Arg) n.772C>G c.389C>G (p.Pro130Arg) | dbSNP |
2 | g.174572038G= | CA1308757410 | WIPF1 | c.767C= (p.Pro256=) n.772C= c.389C= (p.Pro130=) | |
2 | g.174572038G>T | CA349341789 | WIPF1 | c.767C>A (p.Pro256His) n.772C>A c.389C>A (p.Pro130His) | dbSNP |
2 | g.174572039G>A | CA349341791 | WIPF1 | c.766C>T (p.Pro256Ser) n.771C>T c.388C>T (p.Pro130Ser) | gnomAD v4 |
2 | g.174572039G>C | CA349341792 | WIPF1 | c.766C>G (p.Pro256Ala) n.771C>G c.388C>G (p.Pro130Ala) | |
2 | g.174572039G>T | CA349341793 | WIPF1 | c.766C>A (p.Pro256Thr) n.771C>A c.388C>A (p.Pro130Thr) | |
2 | g.174572040G>A | CA430228787 | WIPF1 | c.765C>T (p.Thr255=) n.770C>T c.387C>T (p.Thr129=) | |
2 | g.174572040G>C | CA430228788 | WIPF1 | c.765C>G (p.Thr255=) n.770C>G c.387C>G (p.Thr129=) | |
2 | g.174572040G= | CA1308757411 | WIPF1 | c.765C= (p.Thr255=) n.770C= c.387C= (p.Thr129=) | |
2 | g.174572040G>T | CA1974064 | WIPF1 | c.765C>A (p.Thr255=) n.770C>A c.387C>A (p.Thr129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174572041G>A | CA349341794 | WIPF1 | c.764C>T (p.Thr255Ile) n.769C>T c.386C>T (p.Thr129Ile) | |
2 | g.174572041G>C | CA349341795 | WIPF1 | c.764C>G (p.Thr255Ser) n.769C>G c.386C>G (p.Thr129Ser) | |
2 | g.174572041G>T | CA349341796 | WIPF1 | c.764C>A (p.Thr255Asn) n.769C>A c.386C>A (p.Thr129Asn) | ClinVar |
2 | g.174572042T>A | CA349341797 | WIPF1 | c.763A>T (p.Thr255Ser) n.768A>T c.385A>T (p.Thr129Ser) | |
2 | g.174572042T>C | CA349341798 | WIPF1 | c.763A>G (p.Thr255Ala) n.768A>G c.385A>G (p.Thr129Ala) | gnomAD v4 |
2 | g.174572042T>G | CA349341799 | WIPF1 | c.763A>C (p.Thr255Pro) n.768A>C c.385A>C (p.Thr129Pro) | dbSNP |
2 | g.174572042T= | CA1308757412 | WIPF1 | c.763A= (p.Thr255=) n.768A= c.385A= (p.Thr129=) | |
2 | g.174572043A= | CA1308757413 | WIPF1 | c.762T= (p.Pro254=) n.767T= c.384T= (p.Pro128=) | |
2 | g.174572043A>C | CA430228791 | WIPF1 | c.762T>G (p.Pro254=) n.767T>G c.384T>G (p.Pro128=) | |
2 | g.174572043A>G | CA430228792 | WIPF1 | c.762T>C (p.Pro254=) n.767T>C c.384T>C (p.Pro128=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.174572043A>T | CA430228789 | WIPF1 | c.762T>A (p.Pro254=) n.767T>A c.384T>A (p.Pro128=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174572044G>A | CA349341802 | WIPF1 | c.761C>T (p.Pro254Leu) n.766C>T c.383C>T (p.Pro128Leu) | dbSNP |
2 | g.174572044G>C | CA349341800 | WIPF1 | c.761C>G (p.Pro254Arg) n.766C>G c.383C>G (p.Pro128Arg) | |
2 | g.174572044G= | CA1308757414 | WIPF1 | c.761C= (p.Pro254=) n.766C= c.383C= (p.Pro128=) | |
2 | g.174572044G>T | CA349341801 | WIPF1 | c.761C>A (p.Pro254His) n.766C>A c.383C>A (p.Pro128His) | |
2 | g.174572045G>A | CA349341803 | WIPF1 | c.760C>T (p.Pro254Ser) n.765C>T c.382C>T (p.Pro128Ser) | |
2 | g.174572045G>C | CA349341804 | WIPF1 | c.760C>G (p.Pro254Ala) n.765C>G c.382C>G (p.Pro128Ala) | |
2 | g.174572045G>T | CA349341805 | WIPF1 | c.760C>A (p.Pro254Thr) n.765C>A c.382C>A (p.Pro128Thr) | gnomAD v4 |
2 | g.174572046C>A | CA430228795 | WIPF1 | c.759G>T (p.Pro253=) n.764G>T c.381G>T (p.Pro127=) | gnomAD v4 |
2 | g.174572046C= | CA1308757415 | WIPF1 | c.759G= (p.Pro253=) n.764G= c.381G= (p.Pro127=) | |
2 | g.174572046C>G | CA430228794 | WIPF1 | c.759G>C (p.Pro253=) n.764G>C c.381G>C (p.Pro127=) | |
2 | g.174572046C>T | CA60843422 | WIPF1 | c.759G>A (p.Pro253=) n.764G>A c.381G>A (p.Pro127=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.174572047G>A | CA349341806 | WIPF1 | c.758C>T (p.Pro253Leu) n.763C>T c.380C>T (p.Pro127Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.174572047G>C | CA349341807 | WIPF1 | c.758C>G (p.Pro253Arg) n.763C>G c.380C>G (p.Pro127Arg) | |
2 | g.174572047G= | CA1308757416 | WIPF1 | c.758C= (p.Pro253=) n.763C= c.380C= (p.Pro127=) | |
2 | g.174572047G>T | CA349341808 | WIPF1 | c.758C>A (p.Pro253Gln) n.763C>A c.380C>A (p.Pro127Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.174572048G>A | CA1974065 | WIPF1 | c.757C>T (p.Pro253Ser) n.762C>T c.379C>T (p.Pro127Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.174572048G>C | CA349341809 | WIPF1 | c.757C>G (p.Pro253Ala) n.762C>G c.379C>G (p.Pro127Ala) | |
2 | g.174572048G= | CA1308757417 | WIPF1 | c.757C= (p.Pro253=) n.762C= c.379C= (p.Pro127=) | |
2 | g.174572048G>T | CA349341810 | WIPF1 | c.757C>A (p.Pro253Thr) n.762C>A c.379C>A (p.Pro127Thr) | |
2 | g.174572049C>A | CA430228797 | WIPF1 | c.756G>T (p.Leu252=) n.761G>T c.378G>T (p.Leu126=) | |
2 | g.174572049C= | CA1308757418 | WIPF1 | c.756G= (p.Leu252=) n.761G= c.378G= (p.Leu126=) | |
2 | g.174572049C>G | CA430228799 | WIPF1 | c.756G>C (p.Leu252=) n.761G>C c.378G>C (p.Leu126=) | |
2 | g.174572049C>T | CA430228798 | WIPF1 | c.756G>A (p.Leu252=) n.761G>A c.378G>A (p.Leu126=) | dbSNP gnomAD v4 |
2 | g.174572050A>C | CA349341811 | WIPF1 | c.755T>G (p.Leu252Arg) n.760T>G c.377T>G (p.Leu126Arg) | |
2 | g.174572050A>G | CA349341812 | WIPF1 | c.755T>C (p.Leu252Pro) n.760T>C c.377T>C (p.Leu126Pro) | gnomAD v4 |
2 | g.174572050A>T | CA349341813 | WIPF1 | c.755T>A (p.Leu252Gln) n.760T>A c.377T>A (p.Leu126Gln) | |
2 | g.174572051G>A | CA1974066 | WIPF1 | c.754C>T (p.Leu252=) n.759C>T c.376C>T (p.Leu126=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174572051G>C | CA349341815 | WIPF1 | c.754C>G (p.Leu252Val) n.759C>G c.376C>G (p.Leu126Val) | |
2 | g.174572051G= | CA1308757419 | WIPF1 | c.754C= (p.Leu252=) n.759C= c.376C= (p.Leu126=) | |
2 | g.174572051G>T | CA349341814 | WIPF1 | c.754C>A (p.Leu252Met) n.759C>A c.376C>A (p.Leu126Met) | gnomAD v4 |
2 | g.174572052G>A | CA430228803 | WIPF1 | c.753C>T (p.Pro251=) n.758C>T c.375C>T (p.Pro125=) | gnomAD v4 |
2 | g.174572052G>C | CA430228804 | WIPF1 | c.753C>G (p.Pro251=) n.758C>G c.375C>G (p.Pro125=) | |
2 | g.174572052G>T | CA430228805 | WIPF1 | c.753C>A (p.Pro251=) n.758C>A c.375C>A (p.Pro125=) | |
2 | g.174572053G>A | CA349341819 | WIPF1 | c.752C>T (p.Pro251Leu) n.757C>T c.374C>T (p.Pro125Leu) | gnomAD v4 |
2 | g.174572053G>C | CA349341816 | WIPF1 | c.752C>G (p.Pro251Arg) n.757C>G c.374C>G (p.Pro125Arg) | gnomAD v4 |
2 | g.174572053G>T | CA349341817 | WIPF1 | c.752C>A (p.Pro251His) n.757C>A c.374C>A (p.Pro125His) | |
2 | g.174572054G>A | CA349341821 | WIPF1 | c.751C>T (p.Pro251Ser) n.756C>T c.373C>T (p.Pro125Ser) | |
2 | g.174572054G>C | CA349341822 | WIPF1 | c.751C>G (p.Pro251Ala) n.756C>G c.373C>G (p.Pro125Ala) | |
2 | g.174572054G>T | CA349341824 | WIPF1 | c.751C>A (p.Pro251Thr) n.756C>A c.373C>A (p.Pro125Thr) | |
2 | g.174572055A= | CA1308757420 | WIPF1 | c.750T= (p.Pro250=) n.755T= c.372T= (p.Pro124=) | |
2 | g.174572055A>C | CA430228809 | WIPF1 | c.750T>G (p.Pro250=) n.755T>G c.372T>G (p.Pro124=) | |
2 | g.174572055A>G | CA430228810 | WIPF1 | c.750T>C (p.Pro250=) n.755T>C c.372T>C (p.Pro124=) | dbSNP |
2 | g.174572055A>T | CA430228811 | WIPF1 | c.750T>A (p.Pro250=) n.755T>A c.372T>A (p.Pro124=) | |
2 | g.174572056G>A | CA349341830 | WIPF1 | c.749C>T (p.Pro250Leu) n.754C>T c.371C>T (p.Pro124Leu) | gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.174572056G>C | CA349341832 | WIPF1 | c.749C>G (p.Pro250Arg) n.754C>G c.371C>G (p.Pro124Arg) | |
2 | g.174572056G>T | CA349341834 | WIPF1 | c.749C>A (p.Pro250His) n.754C>A c.371C>A (p.Pro124His) | |
2 | g.174572057G>A | CA349341837 | WIPF1 | c.748C>T (p.Pro250Ser) n.753C>T c.370C>T (p.Pro124Ser) | |
2 | g.174572057G>C | CA349341839 | WIPF1 | c.748C>G (p.Pro250Ala) n.753C>G c.370C>G (p.Pro124Ala) | |
2 | g.174572057G>T | CA349341840 | WIPF1 | c.748C>A (p.Pro250Thr) n.753C>A c.370C>A (p.Pro124Thr) | |
2 | g.174572058C>A | CA430228815 | WIPF1 | c.747G>T (p.Arg249=) n.752G>T c.369G>T (p.Arg123=) | |
2 | g.174572058C= | CA1308757421 | WIPF1 | c.747G= (p.Arg249=) n.752G= c.369G= (p.Arg123=) | |
2 | g.174572058C>G | CA430228816 | WIPF1 | c.747G>C (p.Arg249=) n.752G>C c.369G>C (p.Arg123=) | |
2 | g.174572058C>T | CA60843469 | WIPF1 | c.747G>A (p.Arg249=) n.752G>A c.369G>A (p.Arg123=) | dbSNP gnomAD v4 |
2 | g.174572059C>A | CA349341847 | WIPF1 | c.746G>T (p.Arg249Leu) n.751G>T c.368G>T (p.Arg123Leu) | |
2 | g.174572059C= | CA1308757422 | WIPF1 | c.746G= (p.Arg249=) n.751G= c.368G= (p.Arg123=) | |
2 | g.174572059C>G | CA349341846 | WIPF1 | c.746G>C (p.Arg249Pro) n.751G>C c.368G>C (p.Arg123Pro) | gnomAD v4 |
2 | g.174572059C>T | CA1974067 | WIPF1 | c.746G>A (p.Arg249Gln) n.751G>A c.368G>A (p.Arg123Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.174572060G>A | CA349341849 | WIPF1 | c.745C>T (p.Arg249Trp) n.750C>T c.367C>T (p.Arg123Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174572060G>C | CA349341850 | WIPF1 | c.745C>G (p.Arg249Gly) n.750C>G c.367C>G (p.Arg123Gly) | |
2 | g.174572060G= | CA1308757423 | WIPF1 | c.745C= (p.Arg249=) n.750C= c.367C= (p.Arg123=) | |
2 | g.174572060G>T | CA430228821 | WIPF1 | c.745C>A (p.Arg249=) n.750C>A c.367C>A (p.Arg123=) | |
2 | g.174572061G>A | CA430228822 | WIPF1 | c.744C>T (p.Asn248=) n.749C>T c.366C>T (p.Asn122=) | gnomAD v4 |
2 | g.174572061G>C | CA349341852 | WIPF1 | c.744C>G (p.Asn248Lys) n.749C>G c.366C>G (p.Asn122Lys) | |
2 | g.174572061G>T | CA349341854 | WIPF1 | c.744C>A (p.Asn248Lys) n.749C>A c.366C>A (p.Asn122Lys) | |
2 | g.174572062T>A | CA349341856 | WIPF1 | c.743A>T (p.Asn248Ile) n.748A>T c.365A>T (p.Asn122Ile) | |
2 | g.174572062T>C | CA349341857 | WIPF1 | c.743A>G (p.Asn248Ser) n.748A>G c.365A>G (p.Asn122Ser) | gnomAD v4 |
2 | g.174572062T>G | CA1974068 | WIPF1 | c.743A>C (p.Asn248Thr) n.748A>C c.365A>C (p.Asn122Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.174572062T= | CA1308757424 | WIPF1 | c.743A= (p.Asn248=) n.748A= c.365A= (p.Asn122=) | |
2 | g.174572063T>A | CA349341861 | WIPF1 | c.742A>T (p.Asn248Tyr) n.747A>T c.364A>T (p.Asn122Tyr) | |
2 | g.174572063T>C | CA349341863 | WIPF1 | c.742A>G (p.Asn248Asp) n.747A>G c.364A>G (p.Asn122Asp) | |
2 | g.174572063T>G | CA349341865 | WIPF1 | c.742A>C (p.Asn248His) n.747A>C c.364A>C (p.Asn122His) | |
2 | g.174572064G>A | CA430228827 | WIPF1 | c.741C>T (p.Ser247=) n.746C>T c.363C>T (p.Ser121=) | |
2 | g.174572064G>C | CA430228826 | WIPF1 | c.741C>G (p.Ser247=) n.746C>G c.363C>G (p.Ser121=) | |
2 | g.174572064G>T | CA430228825 | WIPF1 | c.741C>A (p.Ser247=) n.746C>A c.363C>A (p.Ser121=) | |
2 | g.174572065G>A | CA349341867 | WIPF1 | c.740C>T (p.Ser247Phe) n.745C>T c.362C>T (p.Ser121Phe) | |
2 | g.174572065G>C | CA349341871 | WIPF1 | c.740C>G (p.Ser247Cys) n.745C>G c.362C>G (p.Ser121Cys) | |
2 | g.174572065G>T | CA349341872 | WIPF1 | c.740C>A (p.Ser247Tyr) n.745C>A c.362C>A (p.Ser121Tyr) | |
2 | g.174572066A>C | CA349341876 | WIPF1 | c.739T>G (p.Ser247Ala) n.744T>G c.361T>G (p.Ser121Ala) | |
2 | g.174572066A>G | CA349341878 | WIPF1 | c.739T>C (p.Ser247Pro) n.744T>C c.361T>C (p.Ser121Pro) | |
2 | g.174572066A>T | CA349341874 | WIPF1 | c.739T>A (p.Ser247Thr) n.744T>A c.361T>A (p.Ser121Thr) | |
2 | g.174572067G>A | CA430228830 | WIPF1 | c.738C>T (p.Phe246=) n.743C>T c.360C>T (p.Phe120=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174572067G>C | CA349341881 | WIPF1 | c.738C>G (p.Phe246Leu) n.743C>G c.360C>G (p.Phe120Leu) | |
2 | g.174572067G= | CA1308757425 | WIPF1 | c.738C= (p.Phe246=) n.743C= c.360C= (p.Phe120=) | |
2 | g.174572067G>T | CA349341883 | WIPF1 | c.738C>A (p.Phe246Leu) n.743C>A c.360C>A (p.Phe120Leu) | dbSNP gnomAD v4 |
2 | g.174572068A>C | CA349341885 | WIPF1 | c.737T>G (p.Phe246Cys) n.742T>G c.359T>G (p.Phe120Cys) | |
2 | g.174572068A>G | CA349341888 | WIPF1 | c.737T>C (p.Phe246Ser) n.742T>C c.359T>C (p.Phe120Ser) | gnomAD v4 |
2 | g.174572068A>T | CA349341887 | WIPF1 | c.737T>A (p.Phe246Tyr) n.742T>A c.359T>A (p.Phe120Tyr) | |
2 | g.174572073_174572090del | CA2662015953 | WIPF1 | c.720_737del (p.Leu240_Pro245del) n.725_742del c.342_359del (p.Leu114_Pro119del) | gnomAD v4 |
2 | g.174572069A>C | CA349341890 | WIPF1 | c.736T>G (p.Phe246Val) n.741T>G c.358T>G (p.Phe120Val) | |
2 | g.174572069A>G | CA349341892 | WIPF1 | c.736T>C (p.Phe246Leu) n.741T>C c.358T>C (p.Phe120Leu) | gnomAD v4 |
2 | g.174572069A>T | CA349341893 | WIPF1 | c.736T>A (p.Phe246Ile) n.741T>A c.358T>A (p.Phe120Ile) | |
2 | g.174572070G>A | CA430228834 | WIPF1 | c.735C>T (p.Pro245=) n.740C>T c.357C>T (p.Pro119=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174572070G>C | CA430228835 | WIPF1 | c.735C>G (p.Pro245=) n.740C>G c.357C>G (p.Pro119=) | |
2 | g.174572070G= | CA1308757426 | WIPF1 | c.735C= (p.Pro245=) n.740C= c.357C= (p.Pro119=) | |
2 | g.174572070G>T | CA430228836 | WIPF1 | c.735C>A (p.Pro245=) n.740C>A c.357C>A (p.Pro119=) | |
2 | g.174572071G>A | CA349341895 | WIPF1 | c.734C>T (p.Pro245Leu) n.739C>T c.356C>T (p.Pro119Leu) | gnomAD v4 |
2 | g.174572071G>C | CA349341897 | WIPF1 | c.734C>G (p.Pro245Arg) n.739C>G c.356C>G (p.Pro119Arg) | |
2 | g.174572071G>T | CA349341899 | WIPF1 | c.734C>A (p.Pro245His) n.739C>A c.356C>A (p.Pro119His) | |
2 | g.174572072G>A | CA349341900 | WIPF1 | c.733C>T (p.Pro245Ser) n.738C>T c.355C>T (p.Pro119Ser) | gnomAD v4 |
2 | g.174572072G>C | CA349341902 | WIPF1 | c.733C>G (p.Pro245Ala) n.738C>G c.355C>G (p.Pro119Ala) | |
2 | g.174572072G>T | CA349341903 | WIPF1 | c.733C>A (p.Pro245Thr) n.738C>A c.355C>A (p.Pro119Thr) | gnomAD v4 |
2 | g.174572073C>A | CA430228839 | WIPF1 | c.732G>T (p.Ser244=) n.737G>T c.354G>T (p.Ser118=) | |
2 | g.174572073C>G | CA430228840 | WIPF1 | c.732G>C (p.Ser244=) n.737G>C c.354G>C (p.Ser118=) | |
2 | g.174572073C>T | CA430228841 | WIPF1 | c.732G>A (p.Ser244=) n.737G>A c.354G>A (p.Ser118=) | dbSNP |
2 | g.174572074G>A | CA349341907 | WIPF1 | c.731C>T (p.Ser244Leu) n.736C>T c.353C>T (p.Ser118Leu) | gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.174572074G>C | CA349341909 | WIPF1 | c.731C>G (p.Ser244Trp) n.736C>G c.353C>G (p.Ser118Trp) | gnomAD v4 |
2 | g.174572074G>T | CA349341911 | WIPF1 | c.731C>A (p.Ser244Ter) n.736C>A c.353C>A (p.Ser118Ter) | gnomAD v4 |
2 | g.174572075A>C | CA349341913 | WIPF1 | c.730T>G (p.Ser244Ala) n.735T>G c.352T>G (p.Ser118Ala) | |
2 | g.174572075A>G | CA349341916 | WIPF1 | c.730T>C (p.Ser244Pro) n.735T>C c.352T>C (p.Ser118Pro) | |
2 | g.174572075A>T | CA349341915 | WIPF1 | c.730T>A (p.Ser244Thr) n.735T>A c.352T>A (p.Ser118Thr) | |
2 | g.174572076G>A | CA430228845 | WIPF1 | c.729C>T (p.Ser243=) n.734C>T c.351C>T (p.Ser117=) | dbSNP gnomAD v4 |
2 | g.174572076G>C | CA430228844 | WIPF1 | c.729C>G (p.Ser243=) n.734C>G c.351C>G (p.Ser117=) | |
2 | g.174572076G>T | CA430228843 | WIPF1 | c.729C>A (p.Ser243=) n.734C>A c.351C>A (p.Ser117=) | |
2 | g.174572077G>A | CA349341918 | WIPF1 | c.728C>T (p.Ser243Phe) n.733C>T c.350C>T (p.Ser117Phe) | |
2 | g.174572077G>C | CA349341920 | WIPF1 | c.728C>G (p.Ser243Cys) n.733C>G c.350C>G (p.Ser117Cys) | |
2 | g.174572077G>T | CA349341922 | WIPF1 | c.728C>A (p.Ser243Tyr) n.733C>A c.350C>A (p.Ser117Tyr) | |
2 | g.174572078A>C | CA349341924 | WIPF1 | c.727T>G (p.Ser243Ala) n.732T>G c.349T>G (p.Ser117Ala) | |
2 | g.174572078A>G | CA349341926 | WIPF1 | c.727T>C (p.Ser243Pro) n.732T>C c.349T>C (p.Ser117Pro) | dbSNP gnomAD v4 |
2 | g.174572078A>T | CA349341927 | WIPF1 | c.727T>A (p.Ser243Thr) n.732T>A c.349T>A (p.Ser117Thr) | |
2 | g.174572079G>A | CA430228850 | WIPF1 | c.726C>T (p.Ser242=) n.731C>T c.348C>T (p.Ser116=) | gnomAD v4 |
2 | g.174572079G>C | CA430228849 | WIPF1 | c.726C>G (p.Ser242=) n.731C>G c.348C>G (p.Ser116=) | |
2 | g.174572079G>T | CA430228848 | WIPF1 | c.726C>A (p.Ser242=) n.731C>A c.348C>A (p.Ser116=) | gnomAD v4 |
2 | g.174572082_174572093dup | CA2662015957 | WIPF1 | c.715_726dup (p.Ser242_Ser243insProLeuSerSer) n.720_731dup c.337_348dup (p.Ser116_Ser117insProLeuSerSer) | gnomAD v4 |
2 | g.174572080G>A | CA349341929 | WIPF1 | c.725C>T (p.Ser242Phe) n.730C>T c.347C>T (p.Ser116Phe) | |
2 | g.174572080G>C | CA349341931 | WIPF1 | c.725C>G (p.Ser242Cys) n.730C>G c.347C>G (p.Ser116Cys) | |
2 | g.174572080G>T | CA349341933 | WIPF1 | c.725C>A (p.Ser242Tyr) n.730C>A c.347C>A (p.Ser116Tyr) | |
2 | g.174572081A>C | CA349341935 | WIPF1 | c.724T>G (p.Ser242Ala) n.729T>G c.346T>G (p.Ser116Ala) | |
2 | g.174572081A>G | CA349341937 | WIPF1 | c.724T>C (p.Ser242Pro) n.729T>C c.346T>C (p.Ser116Pro) | dbSNP |
2 | g.174572081A>T | CA349341934 | WIPF1 | c.724T>A (p.Ser242Thr) n.729T>A c.346T>A (p.Ser116Thr) | |
2 | g.174572082G>A | CA1974069 | WIPF1 | c.723C>T (p.Ser241=) n.728C>T c.345C>T (p.Ser115=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.174572082G>C | CA349341940 | WIPF1 | c.723C>G (p.Ser241Arg) n.728C>G c.345C>G (p.Ser115Arg) | gnomAD v4 |
2 | g.174572082G= | CA1308757427 | WIPF1 | c.723C= (p.Ser241=) n.728C= c.345C= (p.Ser115=) | |
2 | g.174572082G>T | CA349341941 | WIPF1 | c.723C>A (p.Ser241Arg) n.728C>A c.345C>A (p.Ser115Arg) | ClinVar |
2 | g.174572083C>A | CA349341943 | WIPF1 | c.722G>T (p.Ser241Ile) n.727G>T c.344G>T (p.Ser115Ile) | gnomAD v4 |
2 | g.174572083C>G | CA349341945 | WIPF1 | c.722G>C (p.Ser241Thr) n.727G>C c.344G>C (p.Ser115Thr) | |
2 | g.174572083C>T | CA349341946 | WIPF1 | c.722G>A (p.Ser241Asn) n.727G>A c.344G>A (p.Ser115Asn) | |
2 | g.174572084T>A | CA349341948 | WIPF1 | c.721A>T (p.Ser241Cys) n.726A>T c.343A>T (p.Ser115Cys) | |
2 | g.174572084T>C | CA349341949 | WIPF1 | c.721A>G (p.Ser241Gly) n.726A>G c.343A>G (p.Ser115Gly) | |
2 | g.174572084T>G | CA349341952 | WIPF1 | c.721A>C (p.Ser241Arg) n.726A>C c.343A>C (p.Ser115Arg) | |
2 | g.174572085C>A | CA349341954 | WIPF1 | c.720G>T (p.Leu240Phe) n.725G>T c.342G>T (p.Leu114Phe) | |
2 | g.174572085C>G | CA349341956 | WIPF1 | c.720G>C (p.Leu240Phe) n.725G>C c.342G>C (p.Leu114Phe) | |
2 | g.174572085C>T | CA430228854 | WIPF1 | c.720G>A (p.Leu240=) n.725G>A c.342G>A (p.Leu114=) | |
2 | g.174572086A>C | CA349341958 | WIPF1 | c.719T>G (p.Leu240Trp) n.724T>G c.341T>G (p.Leu114Trp) | |
2 | g.174572086A>G | CA349341960 | WIPF1 | c.719T>C (p.Leu240Ser) n.724T>C c.341T>C (p.Leu114Ser) | |
2 | g.174572086A>T | CA349341961 | WIPF1 | c.719T>A (p.Leu240Ter) n.724T>A c.341T>A (p.Leu114Ter) | |
2 | g.174572087A>C | CA349341963 | WIPF1 | c.718T>G (p.Leu240Val) n.723T>G c.340T>G (p.Leu114Val) | |
2 | g.174572087A>G | CA430228855 | WIPF1 | c.718T>C (p.Leu240=) n.723T>C c.340T>C (p.Leu114=) | |
2 | g.174572087A>T | CA349341965 | WIPF1 | c.718T>A (p.Leu240Met) n.723T>A c.340T>A (p.Leu114Met) | |
2 | g.174572088G>A | CA1974070 | WIPF1 | c.717C>T (p.Pro239=) n.722C>T c.339C>T (p.Pro113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.174572088G>C | CA430228856 | WIPF1 | c.717C>G (p.Pro239=) n.722C>G c.339C>G (p.Pro113=) | dbSNP gnomAD v4 |
2 | g.174572088G= | CA1308757428 | WIPF1 | c.717C= (p.Pro239=) n.722C= c.339C= (p.Pro113=) | |
2 | g.174572088G>T | CA430228857 | WIPF1 | c.717C>A (p.Pro239=) n.722C>A c.339C>A (p.Pro113=) | |
2 | g.174572089G>A | CA60843493 | WIPF1 | c.716C>T (p.Pro239Leu) n.721C>T c.338C>T (p.Pro113Leu) | dbSNP gnomAD v4 |
2 | g.174572089G>C | CA349341969 | WIPF1 | c.716C>G (p.Pro239Arg) n.721C>G c.338C>G (p.Pro113Arg) | |
2 | g.174572089G= | CA1308757429 | WIPF1 | c.716C= (p.Pro239=) n.721C= c.338C= (p.Pro113=) | |
2 | g.174572089G>T | CA349341971 | WIPF1 | c.716C>A (p.Pro239His) n.721C>A c.338C>A (p.Pro113His) | |
2 | g.174572090G>A | CA60843497 | WIPF1 | c.715C>T (p.Pro239Ser) n.720C>T c.337C>T (p.Pro113Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.174572090G>C | CA349341973 | WIPF1 | c.715C>G (p.Pro239Ala) n.720C>G c.337C>G (p.Pro113Ala) | |
2 | g.174572090G= | CA1308757430 | WIPF1 | c.715C= (p.Pro239=) n.720C= c.337C= (p.Pro113=) | |
2 | g.174572090G>T | CA349341974 | WIPF1 | c.715C>A (p.Pro239Thr) n.720C>A c.337C>A (p.Pro113Thr) |