Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.120632027_120635038del | CA2582342871 | HGD | c.1007-1709_1188+1121del c.286-1709_467+1121del c.782-1709_963+1121del c.584-1709_765+1121del | ClinVar |
3 | g.120633232A>C | CA354072832 | HGD | c.1103T>G (p.Met368Arg) n.443T>G c.382T>G (n.382T>G) c.878T>G (p.Met293Arg) c.680T>G (p.Met227Arg) | |
3 | g.120633232A>G | CA354072833 | HGD | c.1103T>C (p.Met368Thr) n.443T>C c.382T>C (n.382T>C) c.878T>C (p.Met293Thr) c.680T>C (p.Met227Thr) | |
3 | g.120633232A>T | CA354072834 | HGD | c.1103T>A (p.Met368Lys) n.443T>A c.382T>A (n.382T>A) c.878T>A (p.Met293Lys) c.680T>A (p.Met227Lys) | |
3 | g.120633233T>A | CA354072835 | HGD | c.1102A>T (p.Met368Leu) n.442A>T c.381A>T (n.381A>T) c.877A>T (p.Met293Leu) c.679A>T (p.Met227Leu) | |
3 | g.120633233T>C | CA340048 | HGD | c.1102A>G (p.Met368Val) n.442A>G c.381A>G (n.381A>G) c.877A>G (p.Met293Val) c.679A>G (p.Met227Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633233T>G | CA354072836 | HGD | c.1102A>C (p.Met368Leu) n.442A>C c.381A>C (n.381A>C) c.877A>C (p.Met293Leu) c.679A>C (p.Met227Leu) | |
3 | g.120633233T= | CA1397090731 | HGD | c.1102A= (p.Met368=) n.442A= c.381A= (n.381A=) c.877A= (p.Met293=) c.679A= (p.Met227=) | |
3 | g.120633234T>A | CA435225960 | HGD | c.1101A>T (p.Thr367=) n.441A>T c.380A>T (n.380A>T) c.876A>T (p.Thr292=) c.678A>T (p.Thr226=) | |
3 | g.120633234T>C | CA435225961 | HGD | c.1101A>G (p.Thr367=) n.441A>G c.380A>G (n.380A>G) c.876A>G (p.Thr292=) c.678A>G (p.Thr226=) | gnomAD v4 |
3 | g.120633234T>G | CA435225962 | HGD | c.1101A>C (p.Thr367=) n.441A>C c.380A>C (n.380A>C) c.876A>C (p.Thr292=) c.678A>C (p.Thr226=) | |
3 | g.120633235G>A | CA354072839 | HGD | c.1100C>T (p.Thr367Ile) n.440C>T c.379C>T (n.379C>T) c.875C>T (p.Thr292Ile) c.677C>T (p.Thr226Ile) | gnomAD v4 |
3 | g.120633235G>C | CA354072837 | HGD | c.1100C>G (p.Thr367Arg) n.440C>G c.379C>G (n.379C>G) c.875C>G (p.Thr292Arg) c.677C>G (p.Thr226Arg) | |
3 | g.120633235G>T | CA354072838 | HGD | c.1100C>A (p.Thr367Lys) n.440C>A c.379C>A (n.379C>A) c.875C>A (p.Thr292Lys) c.677C>A (p.Thr226Lys) | |
3 | g.120633235_120633240dup | CA2582342873 | HGD | c.1095_1100dup (p.Thr367_Met368insSerThr) n.435_440dup c.374_379dup (n.374_379dup) c.870_875dup (p.Thr292_Met293insSerThr) c.672_677dup (p.Thr226_Met227insSerThr) | ClinVar |
3 | g.120633236T>A | CA354072840 | HGD | c.1099A>T (p.Thr367Ser) n.439A>T c.378A>T (n.378A>T) c.874A>T (p.Thr292Ser) c.676A>T (p.Thr226Ser) | |
3 | g.120633236T>C | CA354072841 | HGD | c.1099A>G (p.Thr367Ala) n.439A>G c.378A>G (n.378A>G) c.874A>G (p.Thr292Ala) c.676A>G (p.Thr226Ala) | |
3 | g.120633236T>G | CA354072842 | HGD | c.1099A>C (p.Thr367Pro) n.439A>C c.378A>C (n.378A>C) c.874A>C (p.Thr292Pro) c.676A>C (p.Thr226Pro) | |
3 | g.120633237G>A | CA435225967 | HGD | c.1098C>T (p.Ser366=) n.438C>T c.377C>T (n.377C>T) c.873C>T (p.Ser291=) c.675C>T (p.Ser225=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.120633237G>C | CA354072843 | HGD | c.1098C>G (p.Ser366Arg) n.438C>G c.377C>G (n.377C>G) c.873C>G (p.Ser291Arg) c.675C>G (p.Ser225Arg) | |
3 | g.120633237G= | CA1397090732 | HGD | c.1098C= (p.Ser366=) n.438C= c.377C= (n.377C=) c.873C= (p.Ser291=) c.675C= (p.Ser225=) | |
3 | g.120633237G>T | CA354072844 | HGD | c.1098C>A (p.Ser366Arg) n.438C>A c.377C>A (n.377C>A) c.873C>A (p.Ser291Arg) c.675C>A (p.Ser225Arg) | |
3 | g.120633238C>A | CA354072845 | HGD | c.1097G>T (p.Ser366Ile) n.437G>T c.376G>T (n.376G>T) c.872G>T (p.Ser291Ile) c.674G>T (p.Ser225Ile) | gnomAD v4 COSMIC |
3 | g.120633238C= | CA1397090733 | HGD | c.1097G= (p.Ser366=) n.437G= c.376G= (n.376G=) c.872G= (p.Ser291=) c.674G= (p.Ser225=) | |
3 | g.120633238C>G | CA354072846 | HGD | c.1097G>C (p.Ser366Thr) n.437G>C c.376G>C (n.376G>C) c.872G>C (p.Ser291Thr) c.674G>C (p.Ser225Thr) | |
3 | g.120633238C>T | CA2559969 | HGD | c.1097G>A (p.Ser366Asn) n.437G>A c.376G>A (n.376G>A) c.872G>A (p.Ser291Asn) c.674G>A (p.Ser225Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633238_120633240delinsCTG | CA1397090734 | HGD | c.1095_1097delinsCAG (p.His365=) n.435_437delinsCAG c.374_376delinsCAG (n.374_376delinsCAG) c.870_872delinsCAG (p.His290=) c.672_674delinsCAG (p.His224=) | |
3 | g.120633239T>A | CA354072847 | HGD | c.1096A>T (p.Ser366Cys) n.436A>T c.375A>T (n.375A>T) c.871A>T (p.Ser291Cys) c.673A>T (p.Ser225Cys) | |
3 | g.120633239T>C | CA354072848 | HGD | c.1096A>G (p.Ser366Gly) n.436A>G c.375A>G (n.375A>G) c.871A>G (p.Ser291Gly) c.673A>G (p.Ser225Gly) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120633239T>G | CA354072849 | HGD | c.1096A>C (p.Ser366Arg) n.436A>C c.375A>C (n.375A>C) c.871A>C (p.Ser291Arg) c.673A>C (p.Ser225Arg) | |
3 | g.120633239T= | CA1397090736 | HGD | c.1096A= (p.Ser366=) n.436A= c.375A= (n.375A=) c.871A= (p.Ser291=) c.673A= (p.Ser225=) | |
3 | g.120633242_120633243del | CA1397090735 | HGD | c.1095_1096del (p.His365GlnfsTer9) n.435_436del c.374_375del (n.374_375del) c.870_871del (p.His290GlnfsTer9) c.672_673del (p.His224GlnfsTer9) | dbSNP |
3 | g.120633240G>A | CA435225980 | HGD | c.1095C>T (p.His365=) n.435C>T c.374C>T (n.374C>T) c.870C>T (p.His290=) c.672C>T (p.His224=) | dbSNP gnomAD v4 |
3 | g.120633240G>C | CA354072851 | HGD | c.1095C>G (p.His365Gln) n.435C>G c.374C>G (n.374C>G) c.870C>G (p.His290Gln) c.672C>G (p.His224Gln) | |
3 | g.120633240G= | CA1397090737 | HGD | c.1095C= (p.His365=) n.435C= c.374C= (n.374C=) c.870C= (p.His290=) c.672C= (p.His224=) | |
3 | g.120633240G>T | CA354072850 | HGD | c.1095C>A (p.His365Gln) n.435C>A c.374C>A (n.374C>A) c.870C>A (p.His290Gln) c.672C>A (p.His224Gln) | |
3 | g.120633241T>A | CA354072852 | HGD | c.1094A>T (p.His365Leu) n.434A>T c.373A>T (n.373A>T) c.869A>T (p.His290Leu) c.671A>T (p.His224Leu) | |
3 | g.120633241T>C | CA354072854 | HGD | c.1094A>G (p.His365Arg) n.434A>G c.373A>G (n.373A>G) c.869A>G (p.His290Arg) c.671A>G (p.His224Arg) | |
3 | g.120633241T>G | CA354072853 | HGD | c.1094A>C (p.His365Pro) n.434A>C c.373A>C (n.373A>C) c.869A>C (p.His290Pro) c.671A>C (p.His224Pro) | |
3 | g.120633242G>A | CA354072855 | HGD | c.1093C>T (p.His365Tyr) n.433C>T c.372C>T (n.372C>T) c.868C>T (p.His290Tyr) c.670C>T (p.His224Tyr) | gnomAD v4 |
3 | g.120633242G>C | CA354072856 | HGD | c.1093C>G (p.His365Asp) n.433C>G c.372C>G (n.372C>G) c.868C>G (p.His290Asp) c.670C>G (p.His224Asp) | |
3 | g.120633242G>T | CA354072857 | HGD | c.1093C>A (p.His365Asn) n.433C>A c.372C>A (n.372C>A) c.868C>A (p.His290Asn) c.670C>A (p.His224Asn) | |
3 | g.120633243T>A | CA435225992 | HGD | c.1092A>T (p.Leu364=) n.432A>T c.371A>T (n.371A>T) c.867A>T (p.Leu289=) c.669A>T (p.Leu223=) | |
3 | g.120633243T>C | CA435225993 | HGD | c.1092A>G (p.Leu364=) n.432A>G c.371A>G (n.371A>G) c.867A>G (p.Leu289=) c.669A>G (p.Leu223=) | COSMIC |
3 | g.120633243T>G | CA435225995 | HGD | c.1092A>C (p.Leu364=) n.432A>C c.371A>C (n.371A>C) c.867A>C (p.Leu289=) c.669A>C (p.Leu223=) | |
3 | g.120633244A>C | CA354072858 | HGD | c.1091T>G (p.Leu364Arg) n.431T>G c.370T>G (n.370T>G) c.866T>G (p.Leu289Arg) c.668T>G (p.Leu223Arg) | |
3 | g.120633244A>G | CA354072859 | HGD | c.1091T>C (p.Leu364Pro) n.431T>C c.370T>C (n.370T>C) c.866T>C (p.Leu289Pro) c.668T>C (p.Leu223Pro) | |
3 | g.120633244A>T | CA354072860 | HGD | c.1091T>A (p.Leu364Gln) n.431T>A c.370T>A (n.370T>A) c.866T>A (p.Leu289Gln) c.668T>A (p.Leu223Gln) | |
3 | g.120633245G>A | CA435226000 | HGD | c.1090C>T (p.Leu364=) n.430C>T c.369C>T (n.369C>T) c.865C>T (p.Leu289=) c.667C>T (p.Leu223=) | |
3 | g.120633245G>C | CA354072861 | HGD | c.1090C>G (p.Leu364Val) n.430C>G c.369C>G (n.369C>G) c.865C>G (p.Leu289Val) c.667C>G (p.Leu223Val) | |
3 | g.120633245G>T | CA354072862 | HGD | c.1090C>A (p.Leu364Ile) n.430C>A c.369C>A (n.369C>A) c.865C>A (p.Leu289Ile) c.667C>A (p.Leu223Ile) | |
3 | g.120633246A>C | CA354072863 | HGD | c.1089T>G (p.Ser363Arg) n.429T>G c.368T>G (n.368T>G) c.864T>G (p.Ser288Arg) c.666T>G (p.Ser222Arg) | |
3 | g.120633246A>G | CA435226004 | HGD | c.1089T>C (p.Ser363=) n.429T>C c.368T>C (n.368T>C) c.864T>C (p.Ser288=) c.666T>C (p.Ser222=) | |
3 | g.120633246A>T | CA354072864 | HGD | c.1089T>A (p.Ser363Arg) n.429T>A c.368T>A (n.368T>A) c.864T>A (p.Ser288Arg) c.666T>A (p.Ser222Arg) | |
3 | g.120633247C>A | CA354072867 | HGD | c.1088G>T (p.Ser363Ile) n.428G>T c.367G>T (n.367G>T) c.863G>T (p.Ser288Ile) c.665G>T (p.Ser222Ile) | |
3 | g.120633247C>G | CA354072866 | HGD | c.1088G>C (p.Ser363Thr) n.428G>C c.367G>C (n.367G>C) c.863G>C (p.Ser288Thr) c.665G>C (p.Ser222Thr) | |
3 | g.120633247C>T | CA354072865 | HGD | c.1088G>A (p.Ser363Asn) n.428G>A c.367G>A (n.367G>A) c.863G>A (p.Ser288Asn) c.665G>A (p.Ser222Asn) | gnomAD v4 |
3 | g.120633248T>A | CA354072868 | HGD | c.1087A>T (p.Ser363Cys) n.427A>T c.366A>T (n.366A>T) c.862A>T (p.Ser288Cys) c.664A>T (p.Ser222Cys) | |
3 | g.120633248T>C | CA354072869 | HGD | c.1087A>G (p.Ser363Gly) n.427A>G c.366A>G (n.366A>G) c.862A>G (p.Ser288Gly) c.664A>G (p.Ser222Gly) | |
3 | g.120633248T>G | CA354072870 | HGD | c.1087A>C (p.Ser363Arg) n.427A>C c.366A>C (n.366A>C) c.862A>C (p.Ser288Arg) c.664A>C (p.Ser222Arg) | |
3 | g.120633249C>A | CA435226014 | HGD | c.1086G>T (p.Gly362=) n.426G>T c.365G>T (n.365G>T) c.861G>T (p.Gly287=) c.663G>T (p.Gly221=) | |
3 | g.120633249C>G | CA435226016 | HGD | c.1086G>C (p.Gly362=) n.426G>C c.365G>C (n.365G>C) c.861G>C (p.Gly287=) c.663G>C (p.Gly221=) | |
3 | g.120633249C>T | CA435226012 | HGD | c.1086G>A (p.Gly362=) n.426G>A c.365G>A (n.365G>A) c.861G>A (p.Gly287=) c.663G>A (p.Gly221=) | gnomAD v4 |
3 | g.120633250C>A | CA354072871 | HGD | c.1085G>T (p.Gly362Val) n.425G>T c.364G>T (n.364G>T) c.860G>T (p.Gly287Val) c.662G>T (p.Gly221Val) | |
3 | g.120633250C>G | CA354072872 | HGD | c.1085G>C (p.Gly362Ala) n.425G>C c.364G>C (n.364G>C) c.860G>C (p.Gly287Ala) c.662G>C (p.Gly221Ala) | |
3 | g.120633250C>T | CA354072873 | HGD | c.1085G>A (p.Gly362Glu) n.425G>A c.364G>A (n.364G>A) c.860G>A (p.Gly287Glu) c.662G>A (p.Gly221Glu) | ClinVar gnomAD v4 COSMIC |
3 | g.120633251C>A | CA354072874 | HGD | c.1084G>T (p.Gly362Trp) n.424G>T c.363G>T (n.363G>T) c.859G>T (p.Gly287Trp) c.661G>T (p.Gly221Trp) | |
3 | g.120633251C>G | CA354072875 | HGD | c.1084G>C (p.Gly362Arg) n.424G>C c.363G>C (n.363G>C) c.859G>C (p.Gly287Arg) c.661G>C (p.Gly221Arg) | gnomAD v4 |
3 | g.120633251C>T | CA354072876 | HGD | c.1084G>A (p.Gly362Arg) n.424G>A c.363G>A (n.363G>A) c.859G>A (p.Gly287Arg) c.661G>A (p.Gly221Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.120633252T>A | CA435226024 | HGD | c.1083A>T (p.Gly361=) n.423A>T c.362A>T (n.362A>T) c.858A>T (p.Gly286=) c.660A>T (p.Gly220=) | |
3 | g.120633252T>C | CA435226026 | HGD | c.1083A>G (p.Gly361=) n.423A>G c.362A>G (n.362A>G) c.858A>G (p.Gly286=) c.660A>G (p.Gly220=) | gnomAD v4 |
3 | g.120633252T>G | CA435226028 | HGD | c.1083A>C (p.Gly361=) n.423A>C c.362A>C (n.362A>C) c.858A>C (p.Gly286=) c.660A>C (p.Gly220=) | |
3 | g.120633253C>A | CA354072877 | HGD | c.1082G>T (p.Gly361Val) n.422G>T c.361G>T (n.361G>T) c.857G>T (p.Gly286Val) c.659G>T (p.Gly220Val) | |
3 | g.120633253C= | CA1397090738 | HGD | c.1082G= (p.Gly361=) n.422G= c.361G= (n.361G=) c.857G= (p.Gly286=) c.659G= (p.Gly220=) | |
3 | g.120633253C>G | CA81777955 | HGD | c.1082G>C (p.Gly361Ala) n.422G>C c.361G>C (n.361G>C) c.857G>C (p.Gly286Ala) c.659G>C (p.Gly220Ala) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.120633253C>T | CA354072878 | HGD | c.1082G>A (p.Gly361Glu) n.422G>A c.361G>A (n.361G>A) c.857G>A (p.Gly286Glu) c.659G>A (p.Gly220Glu) | COSMIC |
3 | g.120633257del | CA645535941 | HGD | c.1082del (p.Gly361GlufsTer8) n.422del c.361del (n.361del) c.857del (p.Gly286GlufsTer8) c.659del (p.Gly220GlufsTer8) | COSMIC |
3 | g.120633254C>A | CA354072880 | HGD | c.1081G>T (p.Gly361Ter) n.421G>T c.360G>T (n.360G>T) c.856G>T (p.Gly286Ter) c.658G>T (p.Gly220Ter) | |
3 | g.120633254C= | CA1397090739 | HGD | c.1081G= (p.Gly361=) n.421G= c.360G= (n.360G=) c.856G= (p.Gly286=) c.658G= (p.Gly220=) | |
3 | g.120633254C>G | CA2559970 | HGD | c.1081G>C (p.Gly361Arg) n.421G>C c.360G>C (n.360G>C) c.856G>C (p.Gly286Arg) c.658G>C (p.Gly220Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.120633254C>T | CA354072879 | HGD | c.1081G>A (p.Gly361Arg) n.421G>A c.360G>A (n.360G>A) c.856G>A (p.Gly286Arg) c.658G>A (p.Gly220Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.120633255C>A | CA435226037 | HGD | c.1080G>T (p.Gly360=) n.420G>T c.359G>T (n.359G>T) c.855G>T (p.Gly285=) c.657G>T (p.Gly219=) | |
3 | g.120633255C= | CA1397090740 | HGD | c.1080G= (p.Gly360=) n.420G= c.359G= (n.359G=) c.855G= (p.Gly285=) c.657G= (p.Gly219=) | |
3 | g.120633255C>G | CA435226038 | HGD | c.1080G>C (p.Gly360=) n.420G>C c.359G>C (n.359G>C) c.855G>C (p.Gly285=) c.657G>C (p.Gly219=) | ClinVar dbSNP |
3 | g.120633255C>T | CA2559971 | HGD | c.1080G>A (p.Gly360=) n.420G>A c.359G>A (n.359G>A) c.855G>A (p.Gly285=) c.657G>A (p.Gly219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.120633256C>A | CA354072881 | HGD | c.1079G>T (p.Gly360Val) n.419G>T c.358G>T (n.358G>T) c.854G>T (p.Gly285Val) c.656G>T (p.Gly219Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633256C= | CA1397090741 | HGD | c.1079G= (p.Gly360=) n.419G= c.358G= (n.358G=) c.854G= (p.Gly285=) c.656G= (p.Gly219=) | |
3 | g.120633256C>G | CA354072882 | HGD | c.1079G>C (p.Gly360Ala) n.419G>C c.358G>C (n.358G>C) c.854G>C (p.Gly285Ala) c.656G>C (p.Gly219Ala) | ClinVar gnomAD v4 |
3 | g.120633256C>T | CA354072883 | HGD | c.1079G>A (p.Gly360Glu) n.419G>A c.358G>A (n.358G>A) c.854G>A (p.Gly285Glu) c.656G>A (p.Gly219Glu) | |
3 | g.120633257C>A | CA354072884 | HGD | c.1078G>T (p.Gly360Trp) n.418G>T c.357G>T (n.357G>T) c.853G>T (p.Gly285Trp) c.655G>T (p.Gly219Trp) | |
3 | g.120633257C= | CA1397090742 | HGD | c.1078G= (p.Gly360=) n.418G= c.357G= (n.357G=) c.853G= (p.Gly285=) c.655G= (p.Gly219=) | |
3 | g.120633257C>G | CA2559972 | HGD | c.1078G>C (p.Gly360Arg) n.418G>C c.357G>C (n.357G>C) c.853G>C (p.Gly285Arg) c.655G>C (p.Gly219Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633257C>T | CA354072885 | HGD | c.1078G>A (p.Gly360Arg) n.418G>A c.357G>A (n.357G>A) c.853G>A (p.Gly285Arg) c.655G>A (p.Gly219Arg) | |
3 | g.120633258T>A | CA435226049 | HGD | c.1077A>T (p.Pro359=) n.417A>T c.356A>T (n.356A>T) c.852A>T (p.Pro284=) c.654A>T (p.Pro218=) | |
3 | g.120633258T>C | CA435226050 | HGD | c.1077A>G (p.Pro359=) n.417A>G c.356A>G (n.356A>G) c.852A>G (p.Pro284=) c.654A>G (p.Pro218=) | |
3 | g.120633258T>G | CA435226052 | HGD | c.1077A>C (p.Pro359=) n.417A>C c.356A>C (n.356A>C) c.852A>C (p.Pro284=) c.654A>C (p.Pro218=) | |
3 | g.120633259G>A | CA2559973 | HGD | c.1076C>T (p.Pro359Leu) n.416C>T c.355C>T (n.355C>T) c.851C>T (p.Pro284Leu) c.653C>T (p.Pro218Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633259G>C | CA354072886 | HGD | c.1076C>G (p.Pro359Arg) n.416C>G c.355C>G (n.355C>G) c.851C>G (p.Pro284Arg) c.653C>G (p.Pro218Arg) | |
3 | g.120633259G= | CA1397090743 | HGD | c.1076C= (p.Pro359=) n.416C= c.355C= (n.355C=) c.851C= (p.Pro284=) c.653C= (p.Pro218=) | |
3 | g.120633259G>T | CA354072887 | HGD | c.1076C>A (p.Pro359Gln) n.416C>A c.355C>A (n.355C>A) c.851C>A (p.Pro284Gln) c.653C>A (p.Pro218Gln) | |
3 | g.120633260G>A | CA354072888 | HGD | c.1075C>T (p.Pro359Ser) n.415C>T c.354C>T (n.354C>T) c.850C>T (p.Pro284Ser) c.652C>T (p.Pro218Ser) | ClinVar |
3 | g.120633260G>C | CA354072889 | HGD | c.1075C>G (p.Pro359Ala) n.415C>G c.354C>G (n.354C>G) c.850C>G (p.Pro284Ala) c.652C>G (p.Pro218Ala) | |
3 | g.120633260G>T | CA354072890 | HGD | c.1075C>A (p.Pro359Thr) n.415C>A c.354C>A (n.354C>A) c.850C>A (p.Pro284Thr) c.652C>A (p.Pro218Thr) | |
3 | g.120633261C>A | CA435226061 | HGD | c.1074G>T (p.Leu358=) n.414G>T c.353G>T (n.353G>T) c.849G>T (p.Leu283=) c.651G>T (p.Leu217=) | |
3 | g.120633261C= | CA1397090744 | HGD | c.1074G= (p.Leu358=) n.414G= c.353G= (n.353G=) c.849G= (p.Leu283=) c.651G= (p.Leu217=) | |
3 | g.120633261C>G | CA435226063 | HGD | c.1074G>C (p.Leu358=) n.414G>C c.353G>C (n.353G>C) c.849G>C (p.Leu283=) c.651G>C (p.Leu217=) | |
3 | g.120633261C>T | CA435226065 | HGD | c.1074G>A (p.Leu358=) n.414G>A c.353G>A (n.353G>A) c.849G>A (p.Leu283=) c.651G>A (p.Leu217=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.120633262A>C | CA354072893 | HGD | c.1073T>G (p.Leu358Arg) n.413T>G c.352T>G (n.352T>G) c.848T>G (p.Leu283Arg) c.650T>G (p.Leu217Arg) | |
3 | g.120633262A>G | CA354072892 | HGD | c.1073T>C (p.Leu358Pro) n.413T>C c.352T>C (n.352T>C) c.848T>C (p.Leu283Pro) c.650T>C (p.Leu217Pro) | gnomAD v4 |
3 | g.120633262A>T | CA354072891 | HGD | c.1073T>A (p.Leu358Gln) n.413T>A c.352T>A (n.352T>A) c.848T>A (p.Leu283Gln) c.650T>A (p.Leu217Gln) | |
3 | g.120633263G>A | CA435226070 | HGD | c.1072C>T (p.Leu358=) n.412C>T c.351C>T (n.351C>T) c.847C>T (p.Leu283=) c.649C>T (p.Leu217=) | |
3 | g.120633263G>C | CA354072894 | HGD | c.1072C>G (p.Leu358Val) n.412C>G c.351C>G (n.351C>G) c.847C>G (p.Leu283Val) c.649C>G (p.Leu217Val) | |
3 | g.120633263G>T | CA354072895 | HGD | c.1072C>A (p.Leu358Met) n.412C>A c.351C>A (n.351C>A) c.847C>A (p.Leu283Met) c.649C>A (p.Leu217Met) | gnomAD v4 |
3 | g.120633264G>A | CA435226073 | HGD | c.1071C>T (p.Phe357=) n.411C>T c.350C>T (n.350C>T) c.846C>T (p.Phe282=) c.648C>T (p.Phe216=) | COSMIC |
3 | g.120633264G>C | CA354072896 | HGD | c.1071C>G (p.Phe357Leu) n.411C>G c.350C>G (n.350C>G) c.846C>G (p.Phe282Leu) c.648C>G (p.Phe216Leu) | |
3 | g.120633264G>T | CA354072897 | HGD | c.1071C>A (p.Phe357Leu) n.411C>A c.350C>A (n.350C>A) c.846C>A (p.Phe282Leu) c.648C>A (p.Phe216Leu) | gnomAD v4 |
3 | g.120633265A>C | CA354072898 | HGD | c.1070T>G (p.Phe357Cys) n.410T>G c.349T>G (n.349T>G) c.845T>G (p.Phe282Cys) c.647T>G (p.Phe216Cys) | |
3 | g.120633265A>G | CA354072899 | HGD | c.1070T>C (p.Phe357Ser) n.410T>C c.349T>C (n.349T>C) c.845T>C (p.Phe282Ser) c.647T>C (p.Phe216Ser) | |
3 | g.120633265A>T | CA354072900 | HGD | c.1070T>A (p.Phe357Tyr) n.410T>A c.349T>A (n.349T>A) c.845T>A (p.Phe282Tyr) c.647T>A (p.Phe216Tyr) | |
3 | g.120633266A= | CA1397090745 | HGD | c.1069T= (p.Phe357=) n.409T= c.348T= (n.348T=) c.844T= (p.Phe282=) c.646T= (p.Phe216=) | |
3 | g.120633266A>C | CA354072901 | HGD | c.1069T>G (p.Phe357Val) n.409T>G c.348T>G (n.348T>G) c.844T>G (p.Phe282Val) c.646T>G (p.Phe216Val) | |
3 | g.120633266A>G | CA354072902 | HGD | c.1069T>C (p.Phe357Leu) n.409T>C c.348T>C (n.348T>C) c.844T>C (p.Phe282Leu) c.646T>C (p.Phe216Leu) | gnomAD v4 |
3 | g.120633266A>T | CA2559974 | HGD | c.1069T>A (p.Phe357Ile) n.409T>A c.348T>A (n.348T>A) c.844T>A (p.Phe282Ile) c.646T>A (p.Phe216Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.120633267C>A | CA435226085 | HGD | c.1068G>T (p.Gly356=) n.408G>T c.347G>T (n.347G>T) c.843G>T (p.Gly281=) c.645G>T (p.Gly215=) | |
3 | g.120633267C= | CA1397090746 | HGD | c.1068G= (p.Gly356=) n.408G= c.347G= (n.347G=) c.843G= (p.Gly281=) c.645G= (p.Gly215=) | |
3 | g.120633267C>G | CA435226087 | HGD | c.1068G>C (p.Gly356=) n.408G>C c.347G>C (n.347G>C) c.843G>C (p.Gly281=) c.645G>C (p.Gly215=) | |
3 | g.120633267C>T | CA435226089 | HGD | c.1068G>A (p.Gly356=) n.408G>A c.347G>A (n.347G>A) c.843G>A (p.Gly281=) c.645G>A (p.Gly215=) | ClinVar dbSNP |
3 | g.120633268C>A | CA354072903 | HGD | c.1067G>T (p.Gly356Val) n.407G>T c.346G>T (n.346G>T) c.842G>T (p.Gly281Val) c.644G>T (p.Gly215Val) | |
3 | g.120633268C= | CA1397090747 | HGD | c.1067G= (p.Gly356=) n.407G= c.346G= (n.346G=) c.842G= (p.Gly281=) c.644G= (p.Gly215=) | |
3 | g.120633268C>G | CA354072904 | HGD | c.1067G>C (p.Gly356Ala) n.407G>C c.346G>C (n.346G>C) c.842G>C (p.Gly281Ala) c.644G>C (p.Gly215Ala) | |
3 | g.120633268C>T | CA354072905 | HGD | c.1067G>A (p.Gly356Glu) n.407G>A c.346G>A (n.346G>A) c.842G>A (p.Gly281Glu) c.644G>A (p.Gly215Glu) | dbSNP gnomAD v2 |
3 | g.120633269C>A | CA354072908 | HGD | c.1066G>T (p.Gly356Trp) n.406G>T c.345G>T (n.345G>T) c.841G>T (p.Gly281Trp) c.643G>T (p.Gly215Trp) | |
3 | g.120633269C>G | CA354072907 | HGD | c.1066G>C (p.Gly356Arg) n.406G>C c.345G>C (n.345G>C) c.841G>C (p.Gly281Arg) c.643G>C (p.Gly215Arg) | |
3 | g.120633269C>T | CA354072906 | HGD | c.1066G>A (p.Gly356Arg) n.406G>A c.345G>A (n.345G>A) c.841G>A (p.Gly281Arg) c.643G>A (p.Gly215Arg) | |
3 | g.120633270A= | CA1397090748 | HGD | c.1065T= (p.Gly355=) n.405T= c.344T= (n.344T=) c.840T= (p.Gly280=) c.642T= (p.Gly214=) | |
3 | g.120633270A>C | CA435226098 | HGD | c.1065T>G (p.Gly355=) n.405T>G c.344T>G (n.344T>G) c.840T>G (p.Gly280=) c.642T>G (p.Gly214=) | |
3 | g.120633270A>G | CA435226101 | HGD | c.1065T>C (p.Gly355=) n.405T>C c.344T>C (n.344T>C) c.840T>C (p.Gly280=) c.642T>C (p.Gly214=) | |
3 | g.120633270A>T | CA435226099 | HGD | c.1065T>A (p.Gly355=) n.405T>A c.344T>A (n.344T>A) c.840T>A (p.Gly280=) c.642T>A (p.Gly214=) | |
3 | g.120633271C>A | CA354072909 | HGD | c.1064G>T (p.Gly355Val) n.404G>T c.343G>T (n.343G>T) c.839G>T (p.Gly280Val) c.641G>T (p.Gly214Val) | gnomAD v4 |
3 | g.120633271C= | CA1397090749 | HGD | c.1064G= (p.Gly355=) n.404G= c.343G= (n.343G=) c.839G= (p.Gly280=) c.641G= (p.Gly214=) | |
3 | g.120633271C>G | CA354072910 | HGD | c.1064G>C (p.Gly355Ala) n.404G>C c.343G>C (n.343G>C) c.839G>C (p.Gly280Ala) c.641G>C (p.Gly214Ala) | |
3 | g.120633271C>T | CA2559975 | HGD | c.1064G>A (p.Gly355Asp) n.404G>A c.343G>A (n.343G>A) c.839G>A (p.Gly280Asp) c.641G>A (p.Gly214Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.120633272dup | CA16040885 | HGD | c.1064dup (p.Gly356TrpfsTer19) n.404dup c.343dup (n.343dup) c.839dup (p.Gly281TrpfsTer19) c.641dup (p.Gly215TrpfsTer19) | ClinVar dbSNP |
3 | g.120633272C>A | CA354072911 | HGD | c.1063G>T (p.Gly355Cys) n.403G>T c.342G>T (n.342G>T) c.838G>T (p.Gly280Cys) c.640G>T (p.Gly214Cys) | |
3 | g.120633272C= | CA1397090750 | HGD | c.1063G= (p.Gly355=) n.403G= c.342G= (n.342G=) c.838G= (p.Gly280=) c.640G= (p.Gly214=) | |
3 | g.120633272C>G | CA354072912 | HGD | c.1063G>C (p.Gly355Arg) n.403G>C c.342G>C (n.342G>C) c.838G>C (p.Gly280Arg) c.640G>C (p.Gly214Arg) | gnomAD v4 |
3 | g.120633272C>T | CA81777983 | HGD | c.1063G>A (p.Gly355Ser) n.403G>A c.342G>A (n.342G>A) c.838G>A (p.Gly280Ser) c.640G>A (p.Gly214Ser) | dbSNP |
3 | g.120633273T>A | CA354072913 | HGD | c.1062A>T (p.Gln354His) n.402A>T c.341A>T (n.341A>T) c.837A>T (p.Gln279His) c.639A>T (p.Gln213His) | |
3 | g.120633273T>C | CA435226123 | HGD | c.1062A>G (p.Gln354=) n.402A>G c.341A>G (n.341A>G) c.837A>G (p.Gln279=) c.639A>G (p.Gln213=) | |
3 | g.120633273T>G | CA354072914 | HGD | c.1062A>C (p.Gln354His) n.402A>C c.341A>C (n.341A>C) c.837A>C (p.Gln279His) c.639A>C (p.Gln213His) | |
3 | g.120633274T>A | CA354072915 | HGD | c.1061A>T (p.Gln354Leu) n.401A>T c.340A>T (n.340A>T) c.836A>T (p.Gln279Leu) c.638A>T (p.Gln213Leu) | |
3 | g.120633274T>C | CA354072916 | HGD | c.1061A>G (p.Gln354Arg) n.401A>G c.340A>G (n.340A>G) c.836A>G (p.Gln279Arg) c.638A>G (p.Gln213Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.120633274T>G | CA354072917 | HGD | c.1061A>C (p.Gln354Pro) n.401A>C c.340A>C (n.340A>C) c.836A>C (p.Gln279Pro) c.638A>C (p.Gln213Pro) | ClinVar gnomAD v4 |
3 | g.120633274T= | CA1397090751 | HGD | c.1061A= (p.Gln354=) n.401A= c.340A= (n.340A=) c.836A= (p.Gln279=) c.638A= (p.Gln213=) | |
3 | g.120633275G>A | CA2559976 | HGD | c.1060C>T (p.Gln354Ter) n.400C>T c.339C>T (n.339C>T) c.835C>T (p.Gln279Ter) c.637C>T (p.Gln213Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.120633275G>C | CA354072918 | HGD | c.1060C>G (p.Gln354Glu) n.400C>G c.339C>G (n.339C>G) c.835C>G (p.Gln279Glu) c.637C>G (p.Gln213Glu) | COSMIC |
3 | g.120633275G= | CA1397090752 | HGD | c.1060C= (p.Gln354=) n.400C= c.339C= (n.339C=) c.835C= (p.Gln279=) c.637C= (p.Gln213=) | |
3 | g.120633275G>T | CA354072919 | HGD | c.1060C>A (p.Gln354Lys) n.400C>A c.339C>A (n.339C>A) c.835C>A (p.Gln279Lys) c.637C>A (p.Gln213Lys) | |
3 | g.120633276C>A | CA354072920 | HGD | c.1059G>T (p.Lys353Asn) n.399G>T c.338G>T (n.338G>T) c.834G>T (p.Lys278Asn) c.636G>T (p.Lys212Asn) | |
3 | g.120633276C>G | CA354072921 | HGD | c.1059G>C (p.Lys353Asn) n.399G>C c.338G>C (n.338G>C) c.834G>C (p.Lys278Asn) c.636G>C (p.Lys212Asn) | |
3 | g.120633276C>T | CA435226141 | HGD | c.1059G>A (p.Lys353=) n.399G>A c.338G>A (n.338G>A) c.834G>A (p.Lys278=) c.636G>A (p.Lys212=) | COSMIC |
3 | g.120633277T>A | CA354072924 | HGD | c.1058A>T (p.Lys353Met) n.398A>T c.337A>T (n.337A>T) c.833A>T (p.Lys278Met) c.635A>T (p.Lys212Met) | |
3 | g.120633277T>C | CA354072923 | HGD | c.1058A>G (p.Lys353Arg) n.398A>G c.337A>G (n.337A>G) c.833A>G (p.Lys278Arg) c.635A>G (p.Lys212Arg) | |
3 | g.120633277T>G | CA354072922 | HGD | c.1058A>C (p.Lys353Thr) n.398A>C c.337A>C (n.337A>C) c.833A>C (p.Lys278Thr) c.635A>C (p.Lys212Thr) | |
3 | g.120633278T>A | CA354072925 | HGD | c.1057A>T (p.Lys353Ter) n.397A>T c.336A>T (n.336A>T) c.832A>T (p.Lys278Ter) c.634A>T (p.Lys212Ter) | |
3 | g.120633278T>C | CA354072926 | HGD | c.1057A>G (p.Lys353Glu) n.397A>G c.336A>G (n.336A>G) c.832A>G (p.Lys278Glu) c.634A>G (p.Lys212Glu) | |
3 | g.120633278T>G | CA354072927 | HGD | c.1057A>C (p.Lys353Gln) n.397A>C c.336A>C (n.336A>C) c.832A>C (p.Lys278Gln) c.634A>C (p.Lys212Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.120633278T= | CA1397090753 | HGD | c.1057A= (p.Lys353=) n.397A= c.336A= (n.336A=) c.832A= (p.Lys278=) c.634A= (p.Lys212=) | |
3 | g.120633279T>A | CA435226153 | HGD | c.1056A>T (p.Ala352=) n.396A>T c.335A>T (n.335A>T) c.831A>T (p.Ala277=) c.633A>T (p.Ala211=) | |
3 | g.120633279T>C | CA435226154 | HGD | c.1056A>G (p.Ala352=) n.396A>G c.335A>G (n.335A>G) c.831A>G (p.Ala277=) c.633A>G (p.Ala211=) | |
3 | g.120633279T>G | CA435226156 | HGD | c.1056A>C (p.Ala352=) n.396A>C c.335A>C (n.335A>C) c.831A>C (p.Ala277=) c.633A>C (p.Ala211=) | |
3 | g.120633280G>A | CA354072928 | HGD | c.1055C>T (p.Ala352Val) n.395C>T c.334C>T (n.334C>T) c.830C>T (p.Ala277Val) c.632C>T (p.Ala211Val) | |
3 | g.120633280G>C | CA354072929 | HGD | c.1055C>G (p.Ala352Gly) n.395C>G c.334C>G (n.334C>G) c.830C>G (p.Ala277Gly) c.632C>G (p.Ala211Gly) | |
3 | g.120633280G>T | CA354072930 | HGD | c.1055C>A (p.Ala352Glu) n.395C>A c.334C>A (n.334C>A) c.830C>A (p.Ala277Glu) c.632C>A (p.Ala211Glu) | |
3 | g.120633281C>A | CA354072931 | HGD | c.1054G>T (p.Ala352Ser) n.394G>T c.333G>T (n.333G>T) c.829G>T (p.Ala277Ser) c.631G>T (p.Ala211Ser) | |
3 | g.120633281C>G | CA354072932 | HGD | c.1054G>C (p.Ala352Pro) n.394G>C c.333G>C (n.333G>C) c.829G>C (p.Ala277Pro) c.631G>C (p.Ala211Pro) | |
3 | g.120633281C>T | CA354072933 | HGD | c.1054G>A (p.Ala352Thr) n.394G>A c.333G>A (n.333G>A) c.829G>A (p.Ala277Thr) c.631G>A (p.Ala211Thr) | |
3 | g.120633282C>A | CA354072934 | HGD | c.1053G>T (p.Glu351Asp) n.393G>T c.332G>T (n.332G>T) c.828G>T (p.Glu276Asp) c.630G>T (p.Glu210Asp) | |
3 | g.120633282C= | CA1397090754 | HGD | c.1053G= (p.Glu351=) n.393G= c.332G= (n.332G=) c.828G= (p.Glu276=) c.630G= (p.Glu210=) | |
3 | g.120633282C>G | CA354072935 | HGD | c.1053G>C (p.Glu351Asp) n.393G>C c.332G>C (n.332G>C) c.828G>C (p.Glu276Asp) c.630G>C (p.Glu210Asp) | |
3 | g.120633282C>T | CA435226165 | HGD | c.1053G>A (p.Glu351=) n.393G>A c.332G>A (n.332G>A) c.828G>A (p.Glu276=) c.630G>A (p.Glu210=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.120633283T>A | CA354072937 | HGD | c.1052A>T (p.Glu351Val) n.392A>T c.331A>T (n.331A>T) c.827A>T (p.Glu276Val) c.629A>T (p.Glu210Val) | |
3 | g.120633283T>C | CA354072938 | HGD | c.1052A>G (p.Glu351Gly) n.392A>G c.331A>G (n.331A>G) c.827A>G (p.Glu276Gly) c.629A>G (p.Glu210Gly) | |
3 | g.120633283T>G | CA354072936 | HGD | c.1052A>C (p.Glu351Ala) n.392A>C c.331A>C (n.331A>C) c.827A>C (p.Glu276Ala) c.629A>C (p.Glu210Ala) | |
3 | g.120633284C>A | CA354072939 | HGD | c.1051G>T (p.Glu351Ter) n.391G>T c.330G>T (n.330G>T) c.826G>T (p.Glu276Ter) c.628G>T (p.Glu210Ter) | |
3 | g.120633284C>G | CA354072940 | HGD | c.1051G>C (p.Glu351Gln) n.391G>C c.330G>C (n.330G>C) c.826G>C (p.Glu276Gln) c.628G>C (p.Glu210Gln) | |
3 | g.120633284C>T | CA354072941 | HGD | c.1051G>A (p.Glu351Lys) n.391G>A c.330G>A (n.330G>A) c.826G>A (p.Glu276Lys) c.628G>A (p.Glu210Lys) | |
3 | g.120633285A>C | CA354072942 | HGD | c.1050T>G (p.Tyr350Ter) n.390T>G c.329T>G (n.329T>G) c.825T>G (p.Tyr275Ter) c.627T>G (p.Tyr209Ter) | gnomAD v4 |
3 | g.120633285A>G | CA435226174 | HGD | c.1050T>C (p.Tyr350=) n.390T>C c.329T>C (n.329T>C) c.825T>C (p.Tyr275=) c.627T>C (p.Tyr209=) | |
3 | g.120633285A>T | CA354072943 | HGD | c.1050T>A (p.Tyr350Ter) n.390T>A c.329T>A (n.329T>A) c.825T>A (p.Tyr275Ter) c.627T>A (p.Tyr209Ter) | |
3 | g.120633286T>A | CA354072946 | HGD | c.1049A>T (p.Tyr350Phe) n.389A>T c.328A>T (n.328A>T) c.824A>T (p.Tyr275Phe) c.626A>T (p.Tyr209Phe) | |
3 | g.120633286T>C | CA354072944 | HGD | c.1049A>G (p.Tyr350Cys) n.389A>G c.328A>G (n.328A>G) c.824A>G (p.Tyr275Cys) c.626A>G (p.Tyr209Cys) | ClinVar |
3 | g.120633286T>G | CA354072945 | HGD | c.1049A>C (p.Tyr350Ser) n.389A>C c.328A>C (n.328A>C) c.824A>C (p.Tyr275Ser) c.626A>C (p.Tyr209Ser) | dbSNP gnomAD v2 |
3 | g.120633286T= | CA1397090755 | HGD | c.1049A= (p.Tyr350=) n.389A= c.328A= (n.328A=) c.824A= (p.Tyr275=) c.626A= (p.Tyr209=) | |
3 | g.120633287A= | CA1397090756 | HGD | c.1048T= (p.Tyr350=) n.388T= c.327T= (n.327T=) c.823T= (p.Tyr275=) c.625T= (p.Tyr209=) | |
3 | g.120633287A>C | CA354072947 | HGD | c.1048T>G (p.Tyr350Asp) n.388T>G c.327T>G (n.327T>G) c.823T>G (p.Tyr275Asp) c.625T>G (p.Tyr209Asp) | gnomAD v4 |
3 | g.120633287A>G | CA354072948 | HGD | c.1048T>C (p.Tyr350His) n.388T>C c.327T>C (n.327T>C) c.823T>C (p.Tyr275His) c.625T>C (p.Tyr209His) | dbSNP gnomAD v4 |
3 | g.120633287A>T | CA354072949 | HGD | c.1048T>A (p.Tyr350Asn) n.388T>A c.327T>A (n.327T>A) c.823T>A (p.Tyr275Asn) c.625T>A (p.Tyr209Asn) | |
3 | g.120633288G>A | CA435226185 | HGD | c.1047C>T (p.His349=) n.387C>T c.326C>T (n.326C>T) c.822C>T (p.His274=) c.624C>T (p.His208=) | |
3 | g.120633288G>C | CA354072950 | HGD | c.1047C>G (p.His349Gln) n.387C>G c.326C>G (n.326C>G) c.822C>G (p.His274Gln) c.624C>G (p.His208Gln) | |
3 | g.120633288G>T | CA354072951 | HGD | c.1047C>A (p.His349Gln) n.387C>A c.326C>A (n.326C>A) c.822C>A (p.His274Gln) c.624C>A (p.His208Gln) | |
3 | g.120633289T>A | CA354072952 | HGD | c.1046A>T (p.His349Leu) n.386A>T c.325A>T (n.325A>T) c.821A>T (p.His274Leu) c.623A>T (p.His208Leu) | |
3 | g.120633289T>C | CA2559977 | HGD | c.1046A>G (p.His349Arg) n.386A>G c.325A>G (n.325A>G) c.821A>G (p.His274Arg) c.623A>G (p.His208Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633289T>G | CA354072953 | HGD | c.1046A>C (p.His349Pro) n.386A>C c.325A>C (n.325A>C) c.821A>C (p.His274Pro) c.623A>C (p.His208Pro) | |
3 | g.120633289T= | CA1397090757 | HGD | c.1046A= (p.His349=) n.386A= c.325A= (n.325A=) c.821A= (p.His274=) c.623A= (p.His208=) | |
3 | g.120633290G>A | CA354072954 | HGD | c.1045C>T (p.His349Tyr) n.385C>T c.324C>T (n.324C>T) c.820C>T (p.His274Tyr) c.622C>T (p.His208Tyr) | |
3 | g.120633290G>C | CA354072955 | HGD | c.1045C>G (p.His349Asp) n.385C>G c.324C>G (n.324C>G) c.820C>G (p.His274Asp) c.622C>G (p.His208Asp) | |
3 | g.120633290G>T | CA354072956 | HGD | c.1045C>A (p.His349Asn) n.385C>A c.324C>A (n.324C>A) c.820C>A (p.His274Asn) c.622C>A (p.His208Asn) | |
3 | g.120633291A>C | CA435226195 | HGD | c.1044T>G (p.Gly348=) n.384T>G c.323T>G (n.323T>G) c.819T>G (p.Gly273=) c.621T>G (p.Gly207=) | |
3 | g.120633291A>G | CA435226197 | HGD | c.1044T>C (p.Gly348=) n.384T>C c.323T>C (n.323T>C) c.819T>C (p.Gly273=) c.621T>C (p.Gly207=) | |
3 | g.120633291A>T | CA435226199 | HGD | c.1044T>A (p.Gly348=) n.384T>A c.323T>A (n.323T>A) c.819T>A (p.Gly273=) c.621T>A (p.Gly207=) | gnomAD v4 |
3 | g.120633292C>A | CA354072957 | HGD | c.1043G>T (p.Gly348Val) n.383G>T c.322G>T (n.322G>T) c.818G>T (p.Gly273Val) c.620G>T (p.Gly207Val) | |
3 | g.120633292C= | CA1397090758 | HGD | c.1043G= (p.Gly348=) n.383G= c.322G= (n.322G=) c.818G= (p.Gly273=) c.620G= (p.Gly207=) | |
3 | g.120633292C>G | CA354072958 | HGD | c.1043G>C (p.Gly348Ala) n.383G>C c.322G>C (n.322G>C) c.818G>C (p.Gly273Ala) c.620G>C (p.Gly207Ala) | |
3 | g.120633292C>T | CA354072959 | HGD | c.1043G>A (p.Gly348Asp) n.383G>A c.322G>A (n.322G>A) c.818G>A (p.Gly273Asp) c.620G>A (p.Gly207Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633293C>A | CA354072960 | HGD | c.1042G>T (p.Gly348Cys) n.382G>T c.321G>T (n.321G>T) c.817G>T (p.Gly273Cys) c.619G>T (p.Gly207Cys) | |
3 | g.120633293C>G | CA354072961 | HGD | c.1042G>C (p.Gly348Arg) n.382G>C c.321G>C (n.321G>C) c.817G>C (p.Gly273Arg) c.619G>C (p.Gly207Arg) | |
3 | g.120633293C>T | CA354072962 | HGD | c.1042G>A (p.Gly348Ser) n.382G>A c.321G>A (n.321G>A) c.817G>A (p.Gly273Ser) c.619G>A (p.Gly207Ser) | |
3 | g.120633294T>A | CA435226206 | HGD | c.1041A>T (p.Arg347=) n.381A>T c.320A>T (n.320A>T) c.816A>T (p.Arg272=) c.618A>T (p.Arg206=) | |
3 | g.120633294T>C | CA81778009 | HGD | c.1041A>G (p.Arg347=) n.381A>G c.320A>G (n.320A>G) c.816A>G (p.Arg272=) c.618A>G (p.Arg206=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120633294T>G | CA435226210 | HGD | c.1041A>C (p.Arg347=) n.381A>C c.320A>C (n.320A>C) c.816A>C (p.Arg272=) c.618A>C (p.Arg206=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.120633294T= | CA1397090759 | HGD | c.1041A= (p.Arg347=) n.381A= c.320A= (n.320A=) c.816A= (p.Arg272=) c.618A= (p.Arg206=) | |
3 | g.120633295C>A | CA354072963 | HGD | c.1040G>T (p.Arg347Leu) n.380G>T c.319G>T (n.319G>T) c.815G>T (p.Arg272Leu) c.617G>T (p.Arg206Leu) | dbSNP |
3 | g.120633295C= | CA1397090760 | HGD | c.1040G= (p.Arg347=) n.380G= c.319G= (n.319G=) c.815G= (p.Arg272=) c.617G= (p.Arg206=) | |
3 | g.120633295C>G | CA354072964 | HGD | c.1040G>C (p.Arg347Pro) n.380G>C c.319G>C (n.319G>C) c.815G>C (p.Arg272Pro) c.617G>C (p.Arg206Pro) | ClinVar gnomAD v4 |
3 | g.120633295C>T | CA354072965 | HGD | c.1040G>A (p.Arg347Gln) n.380G>A c.319G>A (n.319G>A) c.815G>A (p.Arg272Gln) c.617G>A (p.Arg206Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633296G>A | CA81778012 | HGD | c.1039C>T (p.Arg347Ter) n.379C>T c.318C>T (n.318C>T) c.814C>T (p.Arg272Ter) c.616C>T (p.Arg206Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.120633296G>C | CA354072966 | HGD | c.1039C>G (p.Arg347Gly) n.379C>G c.318C>G (n.318C>G) c.814C>G (p.Arg272Gly) c.616C>G (p.Arg206Gly) | gnomAD v4 |
3 | g.120633296G= | CA1397090761 | HGD | c.1039C= (p.Arg347=) n.379C= c.318C= (n.318C=) c.814C= (p.Arg272=) c.616C= (p.Arg206=) | |
3 | g.120633296G>T | CA435226217 | HGD | c.1039C>A (p.Arg347=) n.379C>A c.318C>A (n.318C>A) c.814C>A (p.Arg272=) c.616C>A (p.Arg206=) | |
3 | g.120633297G>A | CA435226222 | HGD | c.1038C>T (p.Ile346=) n.378C>T c.317C>T (n.317C>T) c.813C>T (p.Ile271=) c.615C>T (p.Ile205=) | COSMIC |
3 | g.120633297G>C | CA354072967 | HGD | c.1038C>G (p.Ile346Met) n.378C>G c.317C>G (n.317C>G) c.813C>G (p.Ile271Met) c.615C>G (p.Ile205Met) | |
3 | g.120633297G>T | CA435226220 | HGD | c.1038C>A (p.Ile346=) n.378C>A c.317C>A (n.317C>A) c.813C>A (p.Ile271=) c.615C>A (p.Ile205=) | |
3 | g.120633298A= | CA1397090762 | HGD | c.1037T= (p.Ile346=) n.377T= c.316T= (n.316T=) c.812T= (p.Ile271=) c.614T= (p.Ile205=) | |
3 | g.120633298A>C | CA354072970 | HGD | c.1037T>G (p.Ile346Ser) n.377T>G c.316T>G (n.316T>G) c.812T>G (p.Ile271Ser) c.614T>G (p.Ile205Ser) | |
3 | g.120633298A>G | CA354072968 | HGD | c.1037T>C (p.Ile346Thr) n.377T>C c.316T>C (n.316T>C) c.812T>C (p.Ile271Thr) c.614T>C (p.Ile205Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.120633298A>T | CA354072969 | HGD | c.1037T>A (p.Ile346Asn) n.377T>A c.316T>A (n.316T>A) c.812T>A (p.Ile271Asn) c.614T>A (p.Ile205Asn) | |
3 | g.120633299T>A | CA354072971 | HGD | c.1036A>T (p.Ile346Phe) n.376A>T c.315A>T (n.315A>T) c.811A>T (p.Ile271Phe) c.613A>T (p.Ile205Phe) | |
3 | g.120633299T>C | CA354072972 | HGD | c.1036A>G (p.Ile346Val) n.376A>G c.315A>G (n.315A>G) c.811A>G (p.Ile271Val) c.613A>G (p.Ile205Val) | gnomAD v4 |
3 | g.120633299T>G | CA354072973 | HGD | c.1036A>C (p.Ile346Leu) n.376A>C c.315A>C (n.315A>C) c.811A>C (p.Ile271Leu) c.613A>C (p.Ile205Leu) | |
3 | g.120633300G>A | CA435226226 | HGD | c.1035C>T (p.Leu345=) n.375C>T c.314C>T (n.314C>T) c.810C>T (p.Leu270=) c.612C>T (p.Leu204=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.120633300G>C | CA435226227 | HGD | c.1035C>G (p.Leu345=) n.375C>G c.314C>G (n.314C>G) c.810C>G (p.Leu270=) c.612C>G (p.Leu204=) | |
3 | g.120633300G= | CA1397090763 | HGD | c.1035C= (p.Leu345=) n.375C= c.314C= (n.314C=) c.810C= (p.Leu270=) c.612C= (p.Leu204=) | |
3 | g.120633300G>T | CA435226228 | HGD | c.1035C>A (p.Leu345=) n.375C>A c.314C>A (n.314C>A) c.810C>A (p.Leu270=) c.612C>A (p.Leu204=) | |
3 | g.120633301A= | CA1397090764 | HGD | c.1034T= (p.Leu345=) n.374T= c.313T= (n.313T=) c.809T= (p.Leu270=) c.611T= (p.Leu204=) | |
3 | g.120633301A>C | CA354072976 | HGD | c.1034T>G (p.Leu345Arg) n.374T>G c.313T>G (n.313T>G) c.809T>G (p.Leu270Arg) c.611T>G (p.Leu204Arg) | ClinVar |
3 | g.120633301A>G | CA354072975 | HGD | c.1034T>C (p.Leu345Pro) n.374T>C c.313T>C (n.313T>C) c.809T>C (p.Leu270Pro) c.611T>C (p.Leu204Pro) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.120633301A>T | CA354072974 | HGD | c.1034T>A (p.Leu345His) n.374T>A c.313T>A (n.313T>A) c.809T>A (p.Leu270His) c.611T>A (p.Leu204His) | |
3 | g.120633302G>A | CA354072977 | HGD | c.1033C>T (p.Leu345Phe) n.373C>T c.312C>T (n.312C>T) c.808C>T (p.Leu270Phe) c.610C>T (p.Leu204Phe) | |
3 | g.120633302G>C | CA354072978 | HGD | c.1033C>G (p.Leu345Val) n.373C>G c.312C>G (n.312C>G) c.808C>G (p.Leu270Val) c.610C>G (p.Leu204Val) | |
3 | g.120633302G>T | CA354072979 | HGD | c.1033C>A (p.Leu345Ile) n.373C>A c.312C>A (n.312C>A) c.808C>A (p.Leu270Ile) c.610C>A (p.Leu204Ile) | |
3 | g.120633303T>A | CA435226237 | HGD | c.1032A>T (p.Gly344=) n.372A>T c.311A>T (n.311A>T) c.807A>T (p.Gly269=) c.609A>T (p.Gly203=) | |
3 | g.120633303T>C | CA435226240 | HGD | c.1032A>G (p.Gly344=) n.372A>G c.311A>G (n.311A>G) c.807A>G (p.Gly269=) c.609A>G (p.Gly203=) | |
3 | g.120633303T>G | CA435226238 | HGD | c.1032A>C (p.Gly344=) n.372A>C c.311A>C (n.311A>C) c.807A>C (p.Gly269=) c.609A>C (p.Gly203=) | |
3 | g.120633303_120633304delinsTC | CA1397090765 | HGD | c.1031_1032delinsGA (p.Gly344=) n.371_372delinsGA c.310_311delinsGA (n.310_311delinsGA) c.806_807delinsGA (p.Gly269=) c.608_609delinsGA (p.Gly203=) | |
3 | g.120633304C>A | CA354072980 | HGD | c.1031G>T (p.Gly344Val) n.371G>T c.310G>T (n.310G>T) c.806G>T (p.Gly269Val) c.608G>T (p.Gly203Val) | |
3 | g.120633304C>G | CA354072981 | HGD | c.1031G>C (p.Gly344Ala) n.371G>C c.310G>C (n.310G>C) c.806G>C (p.Gly269Ala) c.608G>C (p.Gly203Ala) | |
3 | g.120633304C>T | CA354072982 | HGD | c.1031G>A (p.Gly344Glu) n.371G>A c.310G>A (n.310G>A) c.806G>A (p.Gly269Glu) c.608G>A (p.Gly203Glu) | gnomAD v4 |
3 | g.120633306del | CA545608360 | HGD | c.1031del (p.Gly344AspfsTer25) n.371del c.310del (n.310del) c.806del (p.Gly269AspfsTer25) c.608del (p.Gly203AspfsTer25) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.120633305C>A | CA354072983 | HGD | c.1030G>T (p.Gly344Ter) n.370G>T c.309G>T (n.309G>T) c.805G>T (p.Gly269Ter) c.607G>T (p.Gly203Ter) | |
3 | g.120633305C>G | CA354072985 | HGD | c.1030G>C (p.Gly344Arg) n.370G>C c.309G>C (n.309G>C) c.805G>C (p.Gly269Arg) c.607G>C (p.Gly203Arg) | |
3 | g.120633305C>T | CA354072984 | HGD | c.1030G>A (p.Gly344Arg) n.370G>A c.309G>A (n.309G>A) c.805G>A (p.Gly269Arg) c.607G>A (p.Gly203Arg) | |
3 | g.120633306C>A | CA354072986 | HGD | c.1029G>T (p.Met343Ile) n.369G>T c.308G>T (n.308G>T) c.804G>T (p.Met268Ile) c.606G>T (p.Met202Ile) | |
3 | g.120633306C= | CA1397090766 | HGD | c.1029G= (p.Met343=) n.369G= c.308G= (n.308G=) c.804G= (p.Met268=) c.606G= (p.Met202=) | |
3 | g.120633306C>G | CA354072987 | HGD | c.1029G>C (p.Met343Ile) n.369G>C c.308G>C (n.308G>C) c.804G>C (p.Met268Ile) c.606G>C (p.Met202Ile) | |
3 | g.120633306C>T | CA81778016 | HGD | c.1029G>A (p.Met343Ile) n.369G>A c.308G>A (n.308G>A) c.804G>A (p.Met268Ile) c.606G>A (p.Met202Ile) | dbSNP gnomAD v4 |
3 | g.120633307A= | CA1397090767 | HGD | c.1028T= (p.Met343=) n.368T= c.307T= (n.307T=) c.803T= (p.Met268=) c.605T= (p.Met202=) | |
3 | g.120633307A>C | CA354072988 | HGD | c.1028T>G (p.Met343Arg) n.368T>G c.307T>G (n.307T>G) c.803T>G (p.Met268Arg) c.605T>G (p.Met202Arg) | |
3 | g.120633307A>G | CA354072989 | HGD | c.1028T>C (p.Met343Thr) n.368T>C c.307T>C (n.307T>C) c.803T>C (p.Met268Thr) c.605T>C (p.Met202Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633307A>T | CA354072990 | HGD | c.1028T>A (p.Met343Lys) n.368T>A c.307T>A (n.307T>A) c.803T>A (p.Met268Lys) c.605T>A (p.Met202Lys) | |
3 | g.120633308T>A | CA354072991 | HGD | c.1027A>T (p.Met343Leu) n.367A>T c.306A>T (n.306A>T) c.802A>T (p.Met268Leu) c.604A>T (p.Met202Leu) | |
3 | g.120633308T>C | CA354072992 | HGD | c.1027A>G (p.Met343Val) n.367A>G c.306A>G (n.306A>G) c.802A>G (p.Met268Val) c.604A>G (p.Met202Val) | |
3 | g.120633308T>G | CA2559978 | HGD | c.1027A>C (p.Met343Leu) n.367A>C c.306A>C (n.306A>C) c.802A>C (p.Met268Leu) c.604A>C (p.Met202Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633308T= | CA1397090768 | HGD | c.1027A= (p.Met343=) n.367A= c.306A= (n.306A=) c.802A= (p.Met268=) c.604A= (p.Met202=) | |
3 | g.120633309G>A | CA435226266 | HGD | c.1026C>T (p.Phe342=) n.366C>T c.305C>T (n.305C>T) c.801C>T (p.Phe267=) c.603C>T (p.Phe201=) | |
3 | g.120633309G>C | CA354072993 | HGD | c.1026C>G (p.Phe342Leu) n.366C>G c.305C>G (n.305C>G) c.801C>G (p.Phe267Leu) c.603C>G (p.Phe201Leu) | |
3 | g.120633309G>T | CA354072994 | HGD | c.1026C>A (p.Phe342Leu) n.366C>A c.305C>A (n.305C>A) c.801C>A (p.Phe267Leu) c.603C>A (p.Phe201Leu) | |
3 | g.120633310A>C | CA354072997 | HGD | c.1025T>G (p.Phe342Cys) n.365T>G c.304T>G (n.304T>G) c.800T>G (p.Phe267Cys) c.602T>G (p.Phe201Cys) | |
3 | g.120633310A>G | CA354072996 | HGD | c.1025T>C (p.Phe342Ser) n.365T>C c.304T>C (n.304T>C) c.800T>C (p.Phe267Ser) c.602T>C (p.Phe201Ser) | |
3 | g.120633310A>T | CA354072995 | HGD | c.1025T>A (p.Phe342Tyr) n.365T>A c.304T>A (n.304T>A) c.800T>A (p.Phe267Tyr) c.602T>A (p.Phe201Tyr) | |
3 | g.120633311A>C | CA354072998 | HGD | c.1024T>G (p.Phe342Val) n.364T>G c.303T>G (n.303T>G) c.799T>G (p.Phe267Val) c.601T>G (p.Phe201Val) | |
3 | g.120633311A>G | CA354072999 | HGD | c.1024T>C (p.Phe342Leu) n.364T>C c.303T>C (n.303T>C) c.799T>C (p.Phe267Leu) c.601T>C (p.Phe201Leu) | gnomAD v4 |
3 | g.120633311A>T | CA354073000 | HGD | c.1024T>A (p.Phe342Ile) n.364T>A c.303T>A (n.303T>A) c.799T>A (p.Phe267Ile) c.601T>A (p.Phe201Ile) | |
3 | g.120633312C>A | CA354073001 | HGD | c.1023G>T (p.Glu341Asp) n.363G>T c.302G>T (n.302G>T) c.798G>T (p.Glu266Asp) c.600G>T (p.Glu200Asp) | |
3 | g.120633312C= | CA1397090769 | HGD | c.1023G= (p.Glu341=) n.363G= c.302G= (n.302G=) c.798G= (p.Glu266=) c.600G= (p.Glu200=) | |
3 | g.120633312C>G | CA354073002 | HGD | c.1023G>C (p.Glu341Asp) n.363G>C c.302G>C (n.302G>C) c.798G>C (p.Glu266Asp) c.600G>C (p.Glu200Asp) | dbSNP |
3 | g.120633312C>T | CA435226295 | HGD | c.1023G>A (p.Glu341=) n.363G>A c.302G>A (n.302G>A) c.798G>A (p.Glu266=) c.600G>A (p.Glu200=) | |
3 | g.120633313T>A | CA354073005 | HGD | c.1022A>T (p.Glu341Val) n.362A>T c.301A>T (n.301A>T) c.797A>T (p.Glu266Val) c.599A>T (p.Glu200Val) | |
3 | g.120633313T>C | CA354073004 | HGD | c.1022A>G (p.Glu341Gly) n.362A>G c.301A>G (n.301A>G) c.797A>G (p.Glu266Gly) c.599A>G (p.Glu200Gly) | |
3 | g.120633313T>G | CA354073003 | HGD | c.1022A>C (p.Glu341Ala) n.362A>C c.301A>C (n.301A>C) c.797A>C (p.Glu266Ala) c.599A>C (p.Glu200Ala) | |
3 | g.120633314C>A | CA354073006 | HGD | c.1021G>T (p.Glu341Ter) n.361G>T c.300G>T (n.300G>T) c.796G>T (p.Glu266Ter) c.598G>T (p.Glu200Ter) | |
3 | g.120633314C>G | CA354073007 | HGD | c.1021G>C (p.Glu341Gln) n.361G>C c.300G>C (n.300G>C) c.796G>C (p.Glu266Gln) c.598G>C (p.Glu200Gln) | |
3 | g.120633314C>T | CA354073008 | HGD | c.1021G>A (p.Glu341Lys) n.361G>A c.300G>A (n.300G>A) c.796G>A (p.Glu266Lys) c.598G>A (p.Glu200Lys) | |
3 | g.120633315A>C | CA354073009 | HGD | c.1020T>G (p.Ser340Arg) n.360T>G c.299T>G (n.299T>G) c.795T>G (p.Ser265Arg) c.597T>G (p.Ser199Arg) | |
3 | g.120633315A>G | CA435226327 | HGD | c.1020T>C (p.Ser340=) n.360T>C c.299T>C (n.299T>C) c.795T>C (p.Ser265=) c.597T>C (p.Ser199=) | gnomAD v4 |
3 | g.120633315A>T | CA354073010 | HGD | c.1020T>A (p.Ser340Arg) n.360T>A c.299T>A (n.299T>A) c.795T>A (p.Ser265Arg) c.597T>A (p.Ser199Arg) | |
3 | g.120633315_120633316delinsAC | CA1397090770 | HGD | c.1019_1020delinsGT (p.Ser340=) n.359_360delinsGT c.298_299delinsGT (n.298_299delinsGT) c.794_795delinsGT (p.Ser265=) c.596_597delinsGT (p.Ser199=) | |
3 | g.120633315_120633318delinsACTC | CA1397090771 | HGD | c.1017_1020delinsGAGT (p.Met339=) n.357_360delinsGAGT c.296_299delinsGAGT (n.[c.296_299delinsGAGT;Ter99=]) c.792_795delinsGAGT (p.Met264=) c.594_597delinsGAGT (p.Met198=) | |
3 | g.120633316del | CA2559979 | HGD | c.1019del (p.Ser340MetfsTer29) n.359del c.298del (n.298del) c.794del (p.Ser265MetfsTer29) c.596del (p.Ser199MetfsTer29) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633316C>A | CA354073013 | HGD | c.1019G>T (p.Ser340Ile) n.359G>T c.298G>T (n.298G>T) c.794G>T (p.Ser265Ile) c.596G>T (p.Ser199Ile) | ClinVar |
3 | g.120633316C>G | CA354073011 | HGD | c.1019G>C (p.Ser340Thr) n.359G>C c.298G>C (n.298G>C) c.794G>C (p.Ser265Thr) c.596G>C (p.Ser199Thr) | |
3 | g.120633316C>T | CA354073012 | HGD | c.1019G>A (p.Ser340Asn) n.359G>A c.298G>A (n.298G>A) c.794G>A (p.Ser265Asn) c.596G>A (p.Ser199Asn) | |
3 | g.120633316_120633318delinsTA | CA16040886 | HGD | c.1017_1019delinsTA (p.Met339IlefsTer30) n.357_359delinsTA c.296_298delinsTA (n.[c.296_298delinsTA;Ter99LeuextTer2]) c.792_794delinsTA (p.Met264IlefsTer30) c.594_596delinsTA (p.Met198IlefsTer30) | ClinVar dbSNP |
3 | g.120633317del | CA354073017 | HGD | c.1018del (p.Ser340ValfsTer29) n.358del c.297del (p.Ter99TrpextTer2) c.793del (p.Ser265ValfsTer29) c.595del (p.Ser199ValfsTer29) | |
3 | g.120633317T>A | CA354073014 | HGD | c.1018A>T (p.Ser340Cys) n.358A>T c.297A>T (p.Ter99Cys) c.793A>T (p.Ser265Cys) c.595A>T (p.Ser199Cys) | |
3 | g.120633317T>C | CA354073015 | HGD | c.1018A>G (p.Ser340Gly) n.358A>G c.297A>G (p.Ter99Trp) c.793A>G (p.Ser265Gly) c.595A>G (p.Ser199Gly) | |
3 | g.120633317T>G | CA354073016 | HGD | c.1018A>C (p.Ser340Arg) n.358A>C c.297A>C (p.Ter99Cys) c.793A>C (p.Ser265Arg) c.595A>C (p.Ser199Arg) | |
3 | g.120633318C>A | CA2559980 | HGD | c.1017G>T (p.Met339Ile) n.357G>T c.296G>T (p.Ter99Leu) c.792G>T (p.Met264Ile) c.594G>T (p.Met198Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633318C= | CA1397090772 | HGD | c.1017G= (p.Met339=) n.357G= c.296G= (p.Ter99=) c.792G= (p.Met264=) c.594G= (p.Met198=) | |
3 | g.120633318C>G | CA354073018 | HGD | c.1017G>C (p.Met339Ile) n.357G>C c.296G>C (p.Ter99Ser) c.792G>C (p.Met264Ile) c.594G>C (p.Met198Ile) | |
3 | g.120633318C>T | CA354073019 | HGD | c.1017G>A (p.Met339Ile) n.357G>A c.296G>A (p.Ter99=) c.792G>A (p.Met264Ile) c.594G>A (p.Met198Ile) | gnomAD v4 |
3 | g.120633319del | CA2582342874 | HGD | c.1016del (p.Met339ArgfsTer30) n.356del c.295del (p.Ter99GluextTer2) c.791del (p.Met264ArgfsTer30) c.593del (p.Met198ArgfsTer30) | ClinVar |
3 | g.120633319A>C | CA354073020 | HGD | c.1016T>G (p.Met339Arg) n.356T>G c.295T>G (p.Ter99Gly) c.791T>G (p.Met264Arg) c.593T>G (p.Met198Arg) | |
3 | g.120633319A>G | CA354073021 | HGD | c.1016T>C (p.Met339Thr) n.356T>C c.295T>C (p.Ter99Arg) c.791T>C (p.Met264Thr) c.593T>C (p.Met198Thr) | |
3 | g.120633319A>T | CA354073022 | HGD | c.1016T>A (p.Met339Lys) n.356T>A c.295T>A (p.Ter99Arg) c.791T>A (p.Met264Lys) c.593T>A (p.Met198Lys) | |
3 | g.120633320T>A | CA354073025 | HGD | c.1015A>T (p.Met339Leu) n.355A>T c.294A>T (p.Ala98=) c.790A>T (p.Met264Leu) c.592A>T (p.Met198Leu) | |
3 | g.120633320T>C | CA354073024 | HGD | c.1015A>G (p.Met339Val) n.355A>G c.294A>G (p.Ala98=) c.790A>G (p.Met264Val) c.592A>G (p.Met198Val) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120633320T>G | CA354073023 | HGD | c.1015A>C (p.Met339Leu) n.355A>C c.294A>C (p.Ala98=) c.790A>C (p.Met264Leu) c.592A>C (p.Met198Leu) | |
3 | g.120633320T= | CA1397090773 | HGD | c.1015A= (p.Met339=) n.355A= c.294A= (p.Ala98=) c.790A= (p.Met264=) c.592A= (p.Met198=) | |
3 | g.120633321G>A | CA2559981 | HGD | c.1014C>T (p.Cys338=) n.354C>T c.293C>T (p.Ala98Val) c.789C>T (p.Cys263=) c.591C>T (p.Cys197=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633321G>C | CA354073027 | HGD | c.1014C>G (p.Cys338Trp) n.354C>G c.293C>G (p.Ala98Gly) c.789C>G (p.Cys263Trp) c.591C>G (p.Cys197Trp) | |
3 | g.120633321G= | CA1397090774 | HGD | c.1014C= (p.Cys338=) n.354C= c.293C= (p.Ala98=) c.789C= (p.Cys263=) c.591C= (p.Cys197=) | |
3 | g.120633321G>T | CA354073026 | HGD | c.1014C>A (p.Cys338Ter) n.354C>A c.293C>A (p.Ala98Glu) c.789C>A (p.Cys263Ter) c.591C>A (p.Cys197Ter) | |
3 | g.120633322C>A | CA354073028 | HGD | c.1013G>T (p.Cys338Phe) n.353G>T c.292G>T (p.Ala98Ser) c.788G>T (p.Cys263Phe) c.590G>T (p.Cys197Phe) | |
3 | g.120633322C>G | CA354073030 | HGD | c.1013G>C (p.Cys338Ser) n.353G>C c.292G>C (p.Ala98Pro) c.788G>C (p.Cys263Ser) c.590G>C (p.Cys197Ser) | |
3 | g.120633322C>T | CA354073029 | HGD | c.1013G>A (p.Cys338Tyr) n.353G>A c.292G>A (p.Ala98Thr) c.788G>A (p.Cys263Tyr) c.590G>A (p.Cys197Tyr) | gnomAD v4 |
3 | g.120633323A= | CA1397090775 | HGD | c.1012T= (p.Cys338=) n.352T= c.291T= (p.Thr97=) c.787T= (p.Cys263=) c.589T= (p.Cys197=) | |
3 | g.120633323A>C | CA81778049 | HGD | c.1012T>G (p.Cys338Gly) n.352T>G c.291T>G (p.Thr97=) c.787T>G (p.Cys263Gly) c.589T>G (p.Cys197Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633323A>G | CA354073032 | HGD | c.1012T>C (p.Cys338Arg) n.352T>C c.291T>C (p.Thr97=) c.787T>C (p.Cys263Arg) c.589T>C (p.Cys197Arg) | |
3 | g.120633323A>T | CA354073031 | HGD | c.1012T>A (p.Cys338Ser) n.352T>A c.291T>A (p.Thr97=) c.787T>A (p.Cys263Ser) c.589T>A (p.Cys197Ser) | gnomAD v4 |
3 | g.120633324G>A | CA435226397 | HGD | c.1011C>T (p.Asn337=) n.351C>T c.290C>T (p.Thr97Ile) c.786C>T (p.Asn262=) c.588C>T (p.Asn196=) | |
3 | g.120633324G>C | CA354073033 | HGD | c.1011C>G (p.Asn337Lys) n.351C>G c.290C>G (p.Thr97Ser) c.786C>G (p.Asn262Lys) c.588C>G (p.Asn196Lys) | |
3 | g.120633324G>T | CA354073034 | HGD | c.1011C>A (p.Asn337Lys) n.351C>A c.290C>A (p.Thr97Asn) c.786C>A (p.Asn262Lys) c.588C>A (p.Asn196Lys) | |
3 | g.120633325T>A | CA354073035 | HGD | c.1010A>T (p.Asn337Ile) n.350A>T c.289A>T (p.Thr97Ser) c.785A>T (p.Asn262Ile) c.587A>T (p.Asn196Ile) | |
3 | g.120633325T>C | CA354073036 | HGD | c.1010A>G (p.Asn337Ser) n.350A>G c.289A>G (p.Thr97Ala) c.785A>G (p.Asn262Ser) c.587A>G (p.Asn196Ser) | |
3 | g.120633325T>G | CA354073037 | HGD | c.1010A>C (p.Asn337Thr) n.350A>C c.289A>C (p.Thr97Pro) c.785A>C (p.Asn262Thr) c.587A>C (p.Asn196Thr) | |
3 | g.120633326T>A | CA354073038 | HGD | c.1009A>T (p.Asn337Tyr) n.349A>T c.288A>T (p.Gly96=) c.784A>T (p.Asn262Tyr) c.586A>T (p.Asn196Tyr) | |
3 | g.120633326T>C | CA354073039 | HGD | c.1009A>G (p.Asn337Asp) n.349A>G c.288A>G (p.Gly96=) c.784A>G (p.Asn262Asp) c.586A>G (p.Asn196Asp) | ClinVar gnomAD v4 |
3 | g.120633326T>G | CA354073040 | HGD | c.1009A>C (p.Asn337His) n.349A>C c.288A>C (p.Gly96=) c.784A>C (p.Asn262His) c.586A>C (p.Asn196His) | |
3 | g.120633326T= | CA1397090776 | HGD | c.1009A= (p.Asn337=) n.349A= c.288A= (p.Gly96=) c.784A= (p.Asn262=) c.586A= (p.Asn196=) | |
3 | g.120633327C>A | CA354073041 | HGD | c.1008G>T (p.Arg336Ser) n.348G>T c.287G>T (p.Gly96Val) c.783G>T (p.Arg261Ser) c.585G>T (p.Arg195Ser) | |
3 | g.120633327C>G | CA354073042 | HGD | c.1008G>C (p.Arg336Ser) n.348G>C c.287G>C (p.Gly96Ala) c.783G>C (p.Arg261Ser) c.585G>C (p.Arg195Ser) | |
3 | g.120633327C>T | CA435226427 | HGD | c.1008G>A (p.Arg336=) n.348G>A c.287G>A (p.Gly96Glu) c.783G>A (p.Arg261=) c.585G>A (p.Arg195=) | |
3 | g.120633329dup | CA81778051 | HGD | c.1008dup n.348dup c.287dup c.783dup c.585dup | ClinVar dbSNP |
3 | g.120633328C>A | CA354073043 | HGD | c.1007G>T (p.Arg336Met) n.347G>T c.286G>T (p.Gly96Ter) c.782G>T (p.Arg261Met) c.584G>T (p.Arg195Met) | |
3 | g.120633328C>G | CA354073044 | HGD | c.1007G>C (p.Arg336Thr) n.347G>C c.286G>C (p.Gly96Arg) c.782G>C (p.Arg261Thr) c.584G>C (p.Arg195Thr) | ClinVar |
3 | g.120633328C>T | CA354073045 | HGD | c.1007G>A (p.Arg336Lys) n.347G>A c.286G>A (p.Gly96Arg) c.782G>A (p.Arg261Lys) c.584G>A (p.Arg195Lys) | ClinVar COSMIC |
3 | g.120633329C>A | CA354073048 | HGD | c.1007-1G>T (n.1007-1G>T) n.347-1G>T c.286-1G>T (n.286-1G>T) c.782-1G>T (n.782-1G>T) c.584-1G>T (n.584-1G>T) | |
3 | g.120633329C>G | CA354073046 | HGD | c.1007-1G>C (n.1007-1G>C) n.347-1G>C c.286-1G>C (n.286-1G>C) c.782-1G>C (n.782-1G>C) c.584-1G>C (n.584-1G>C) | |
3 | g.120633329C>T | CA354073047 | HGD | c.1007-1G>A (n.1007-1G>A) n.347-1G>A c.286-1G>A (n.286-1G>A) c.782-1G>A (n.782-1G>A) c.584-1G>A (n.584-1G>A) | |
3 | g.120633330T>A | CA354073049 | HGD | c.1007-2A>T (n.1007-2A>T) n.347-2A>T c.286-2A>T (n.286-2A>T) c.782-2A>T (n.782-2A>T) c.584-2A>T (n.584-2A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.120633330T>C | CA354073050 | HGD | c.1007-2A>G (n.1007-2A>G) n.347-2A>G c.286-2A>G (n.286-2A>G) c.782-2A>G (n.782-2A>G) c.584-2A>G (n.584-2A>G) | gnomAD v4 |
3 | g.120633330T>G | CA354073051 | HGD | c.1007-2A>C (n.1007-2A>C) n.347-2A>C c.286-2A>C (n.286-2A>C) c.782-2A>C (n.782-2A>C) c.584-2A>C (n.584-2A>C) | |
3 | g.120633330T= | CA1397090777 | HGD | c.1007-2A= (n.1007-2A=) n.347-2A= c.286-2A= (n.286-2A=) c.782-2A= (n.782-2A=) c.584-2A= (n.584-2A=) | |
3 | g.120633330_120633331delinsTG | CA1397090778 | HGD | c.1007-3_1007-2delinsCA (n.1007-3_1007-2delinsCA) n.347-3_347-2delinsCA c.286-3_286-2delinsCA (n.286-3_286-2delinsCA) c.782-3_782-2delinsCA (n.782-3_782-2delinsCA) c.584-3_584-2delinsCA (n.584-3_584-2delinsCA) | |
3 | g.120633331G>A | CA2667170812 | HGD | c.1007-3C>T (n.1007-3C>T) n.347-3C>T c.286-3C>T (n.286-3C>T) c.782-3C>T (n.782-3C>T) c.584-3C>T (n.584-3C>T) | gnomAD v4 |
3 | g.120633333del | CA435226451 | HGD | c.1007-3del (n.1007-3del) n.347-3del c.286-3del (n.286-3del) c.782-3del (n.782-3del) c.584-3del (n.584-3del) | ClinVar dbSNP gnomAD v2 COSMIC |
3 | g.120633332G>A | CA1397090780 | HGD | c.1007-4C>T (n.1007-4C>T) n.347-4C>T c.286-4C>T (n.286-4C>T) c.782-4C>T (n.782-4C>T) c.584-4C>T (n.584-4C>T) | dbSNP gnomAD v4 |
3 | g.120633332G= | CA1397090779 | HGD | c.1007-4C= (n.1007-4C=) n.347-4C= c.286-4C= (n.286-4C=) c.782-4C= (n.782-4C=) c.584-4C= (n.584-4C=) | |
3 | g.120633332G>T | CA2667170813 | HGD | c.1007-4C>A (n.1007-4C>A) n.347-4C>A c.286-4C>A (n.286-4C>A) c.782-4C>A (n.782-4C>A) c.584-4C>A (n.584-4C>A) | gnomAD v4 |