Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.120632027_120635038delCA2582342871HGDc.1007-1709_1188+1121del
c.286-1709_467+1121del
c.782-1709_963+1121del
c.584-1709_765+1121del
 ClinVar
3g.120633233T>ACA354072835HGDc.1102A>T (p.Met368Leu)
n.442A>T
c.381A>T (n.381A>T)
c.877A>T (p.Met293Leu)
c.679A>T (p.Met227Leu)
3g.120633233T>CCA340048HGDc.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
3g.120633233T>GCA354072836HGDc.1102A>C (p.Met368Leu)
n.442A>C
c.381A>C (n.381A>C)
c.877A>C (p.Met293Leu)
c.679A>C (p.Met227Leu)
3g.120633233T=CA1397090731HGDc.1102A= (p.Met368=)
n.442A=
c.381A= (n.381A=)
c.877A= (p.Met293=)
c.679A= (p.Met227=)
3g.120633234T>ACA435225960HGDc.1101A>T (p.Thr367=)
n.441A>T
c.380A>T (n.380A>T)
c.876A>T (p.Thr292=)
c.678A>T (p.Thr226=)
3g.120633234T>CCA435225961HGDc.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
3g.120633234T>GCA435225962HGDc.1101A>C (p.Thr367=)
n.441A>C
c.380A>C (n.380A>C)
c.876A>C (p.Thr292=)
c.678A>C (p.Thr226=)
3g.120633235G>ACA354072839HGDc.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
3g.120633235G>CCA354072837HGDc.1100C>G (p.Thr367Arg)
n.440C>G
c.379C>G (n.379C>G)
c.875C>G (p.Thr292Arg)
c.677C>G (p.Thr226Arg)
3g.120633235G>TCA354072838HGDc.1100C>A (p.Thr367Lys)
n.440C>A
c.379C>A (n.379C>A)
c.875C>A (p.Thr292Lys)
c.677C>A (p.Thr226Lys)
3g.120633235_120633240dupCA2582342873HGDc.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
3g.120633236T>ACA354072840HGDc.1099A>T (p.Thr367Ser)
n.439A>T
c.378A>T (n.378A>T)
c.874A>T (p.Thr292Ser)
c.676A>T (p.Thr226Ser)
3g.120633236T>CCA354072841HGDc.1099A>G (p.Thr367Ala)
n.439A>G
c.378A>G (n.378A>G)
c.874A>G (p.Thr292Ala)
c.676A>G (p.Thr226Ala)
3g.120633236T>GCA354072842HGDc.1099A>C (p.Thr367Pro)
n.439A>C
c.378A>C (n.378A>C)
c.874A>C (p.Thr292Pro)
c.676A>C (p.Thr226Pro)
3g.120633237G>ACA435225967HGDc.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
3g.120633237G>CCA354072843HGDc.1098C>G (p.Ser366Arg)
n.438C>G
c.377C>G (n.377C>G)
c.873C>G (p.Ser291Arg)
c.675C>G (p.Ser225Arg)
3g.120633237G=CA1397090732HGDc.1098C= (p.Ser366=)
n.438C=
c.377C= (n.377C=)
c.873C= (p.Ser291=)
c.675C= (p.Ser225=)
3g.120633237G>TCA354072844HGDc.1098C>A (p.Ser366Arg)
n.438C>A
c.377C>A (n.377C>A)
c.873C>A (p.Ser291Arg)
c.675C>A (p.Ser225Arg)
3g.120633238C>ACA354072845HGDc.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
3g.120633238C=CA1397090733HGDc.1097G= (p.Ser366=)
n.437G=
c.376G= (n.376G=)
c.872G= (p.Ser291=)
c.674G= (p.Ser225=)
3g.120633238C>GCA354072846HGDc.1097G>C (p.Ser366Thr)
n.437G>C
c.376G>C (n.376G>C)
c.872G>C (p.Ser291Thr)
c.674G>C (p.Ser225Thr)
3g.120633238C>TCA2559969HGDc.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
3g.120633238_120633240delinsCTGCA1397090734HGDc.1095_1097delinsCAG (p.His365=)
n.435_437delinsCAG
c.374_376delinsCAG (n.374_376delinsCAG)
c.870_872delinsCAG (p.His290=)
c.672_674delinsCAG (p.His224=)
3g.120633239T>ACA354072847HGDc.1096A>T (p.Ser366Cys)
n.436A>T
c.375A>T (n.375A>T)
c.871A>T (p.Ser291Cys)
c.673A>T (p.Ser225Cys)
3g.120633239T>CCA354072848HGDc.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
3g.120633239T>GCA354072849HGDc.1096A>C (p.Ser366Arg)
n.436A>C
c.375A>C (n.375A>C)
c.871A>C (p.Ser291Arg)
c.673A>C (p.Ser225Arg)
3g.120633239T=CA1397090736HGDc.1096A= (p.Ser366=)
n.436A=
c.375A= (n.375A=)
c.871A= (p.Ser291=)
c.673A= (p.Ser225=)
3g.120633242_120633243delCA1397090735HGDc.1095_1096del (p.His365GlnfsTer9)
n.435_436del
c.374_375del (n.374_375del)
c.870_871del (p.His290GlnfsTer9)
c.672_673del (p.His224GlnfsTer9)
 dbSNP
3g.120633240G>ACA435225980HGDc.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
3g.120633240G>CCA354072851HGDc.1095C>G (p.His365Gln)
n.435C>G
c.374C>G (n.374C>G)
c.870C>G (p.His290Gln)
c.672C>G (p.His224Gln)
3g.120633240G=CA1397090737HGDc.1095C= (p.His365=)
n.435C=
c.374C= (n.374C=)
c.870C= (p.His290=)
c.672C= (p.His224=)
3g.120633240G>TCA354072850HGDc.1095C>A (p.His365Gln)
n.435C>A
c.374C>A (n.374C>A)
c.870C>A (p.His290Gln)
c.672C>A (p.His224Gln)
3g.120633241T>ACA354072852HGDc.1094A>T (p.His365Leu)
n.434A>T
c.373A>T (n.373A>T)
c.869A>T (p.His290Leu)
c.671A>T (p.His224Leu)
3g.120633241T>CCA354072854HGDc.1094A>G (p.His365Arg)
n.434A>G
c.373A>G (n.373A>G)
c.869A>G (p.His290Arg)
c.671A>G (p.His224Arg)
3g.120633241T>GCA354072853HGDc.1094A>C (p.His365Pro)
n.434A>C
c.373A>C (n.373A>C)
c.869A>C (p.His290Pro)
c.671A>C (p.His224Pro)
3g.120633242G>ACA354072855HGDc.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
3g.120633242G>CCA354072856HGDc.1093C>G (p.His365Asp)
n.433C>G
c.372C>G (n.372C>G)
c.868C>G (p.His290Asp)
c.670C>G (p.His224Asp)
3g.120633242G>TCA354072857HGDc.1093C>A (p.His365Asn)
n.433C>A
c.372C>A (n.372C>A)
c.868C>A (p.His290Asn)
c.670C>A (p.His224Asn)
3g.120633243T>ACA435225992HGDc.1092A>T (p.Leu364=)
n.432A>T
c.371A>T (n.371A>T)
c.867A>T (p.Leu289=)
c.669A>T (p.Leu223=)
3g.120633243T>CCA435225993HGDc.1092A>G (p.Leu364=)
n.432A>G
c.371A>G (n.371A>G)
c.867A>G (p.Leu289=)
c.669A>G (p.Leu223=)
 COSMIC
3g.120633243T>GCA435225995HGDc.1092A>C (p.Leu364=)
n.432A>C
c.371A>C (n.371A>C)
c.867A>C (p.Leu289=)
c.669A>C (p.Leu223=)
3g.120633244A>CCA354072858HGDc.1091T>G (p.Leu364Arg)
n.431T>G
c.370T>G (n.370T>G)
c.866T>G (p.Leu289Arg)
c.668T>G (p.Leu223Arg)
3g.120633244A>GCA354072859HGDc.1091T>C (p.Leu364Pro)
n.431T>C
c.370T>C (n.370T>C)
c.866T>C (p.Leu289Pro)
c.668T>C (p.Leu223Pro)
3g.120633244A>TCA354072860HGDc.1091T>A (p.Leu364Gln)
n.431T>A
c.370T>A (n.370T>A)
c.866T>A (p.Leu289Gln)
c.668T>A (p.Leu223Gln)
3g.120633245G>ACA435226000HGDc.1090C>T (p.Leu364=)
n.430C>T
c.369C>T (n.369C>T)
c.865C>T (p.Leu289=)
c.667C>T (p.Leu223=)
3g.120633245G>CCA354072861HGDc.1090C>G (p.Leu364Val)
n.430C>G
c.369C>G (n.369C>G)
c.865C>G (p.Leu289Val)
c.667C>G (p.Leu223Val)
3g.120633245G>TCA354072862HGDc.1090C>A (p.Leu364Ile)
n.430C>A
c.369C>A (n.369C>A)
c.865C>A (p.Leu289Ile)
c.667C>A (p.Leu223Ile)
3g.120633246A>CCA354072863HGDc.1089T>G (p.Ser363Arg)
n.429T>G
c.368T>G (n.368T>G)
c.864T>G (p.Ser288Arg)
c.666T>G (p.Ser222Arg)
3g.120633246A>GCA435226004HGDc.1089T>C (p.Ser363=)
n.429T>C
c.368T>C (n.368T>C)
c.864T>C (p.Ser288=)
c.666T>C (p.Ser222=)
3g.120633246A>TCA354072864HGDc.1089T>A (p.Ser363Arg)
n.429T>A
c.368T>A (n.368T>A)
c.864T>A (p.Ser288Arg)
c.666T>A (p.Ser222Arg)
3g.120633247C>ACA354072867HGDc.1088G>T (p.Ser363Ile)
n.428G>T
c.367G>T (n.367G>T)
c.863G>T (p.Ser288Ile)
c.665G>T (p.Ser222Ile)
3g.120633247C>GCA354072866HGDc.1088G>C (p.Ser363Thr)
n.428G>C
c.367G>C (n.367G>C)
c.863G>C (p.Ser288Thr)
c.665G>C (p.Ser222Thr)
3g.120633247C>TCA354072865HGDc.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
3g.120633248T>ACA354072868HGDc.1087A>T (p.Ser363Cys)
n.427A>T
c.366A>T (n.366A>T)
c.862A>T (p.Ser288Cys)
c.664A>T (p.Ser222Cys)
3g.120633248T>CCA354072869HGDc.1087A>G (p.Ser363Gly)
n.427A>G
c.366A>G (n.366A>G)
c.862A>G (p.Ser288Gly)
c.664A>G (p.Ser222Gly)
3g.120633248T>GCA354072870HGDc.1087A>C (p.Ser363Arg)
n.427A>C
c.366A>C (n.366A>C)
c.862A>C (p.Ser288Arg)
c.664A>C (p.Ser222Arg)
3g.120633249C>ACA435226014HGDc.1086G>T (p.Gly362=)
n.426G>T
c.365G>T (n.365G>T)
c.861G>T (p.Gly287=)
c.663G>T (p.Gly221=)
3g.120633249C>GCA435226016HGDc.1086G>C (p.Gly362=)
n.426G>C
c.365G>C (n.365G>C)
c.861G>C (p.Gly287=)
c.663G>C (p.Gly221=)
3g.120633249C>TCA435226012HGDc.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
3g.120633250C>ACA354072871HGDc.1085G>T (p.Gly362Val)
n.425G>T
c.364G>T (n.364G>T)
c.860G>T (p.Gly287Val)
c.662G>T (p.Gly221Val)
3g.120633250C>GCA354072872HGDc.1085G>C (p.Gly362Ala)
n.425G>C
c.364G>C (n.364G>C)
c.860G>C (p.Gly287Ala)
c.662G>C (p.Gly221Ala)
3g.120633250C>TCA354072873HGDc.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
3g.120633251C>ACA354072874HGDc.1084G>T (p.Gly362Trp)
n.424G>T
c.363G>T (n.363G>T)
c.859G>T (p.Gly287Trp)
c.661G>T (p.Gly221Trp)
3g.120633251C>GCA354072875HGDc.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
3g.120633251C>TCA354072876HGDc.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
3g.120633252T>ACA435226024HGDc.1083A>T (p.Gly361=)
n.423A>T
c.362A>T (n.362A>T)
c.858A>T (p.Gly286=)
c.660A>T (p.Gly220=)
3g.120633252T>CCA435226026HGDc.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
3g.120633252T>GCA435226028HGDc.1083A>C (p.Gly361=)
n.423A>C
c.362A>C (n.362A>C)
c.858A>C (p.Gly286=)
c.660A>C (p.Gly220=)
3g.120633253C>ACA354072877HGDc.1082G>T (p.Gly361Val)
n.422G>T
c.361G>T (n.361G>T)
c.857G>T (p.Gly286Val)
c.659G>T (p.Gly220Val)
3g.120633253C=CA1397090738HGDc.1082G= (p.Gly361=)
n.422G=
c.361G= (n.361G=)
c.857G= (p.Gly286=)
c.659G= (p.Gly220=)
3g.120633253C>GCA81777955HGDc.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
3g.120633253C>TCA354072878HGDc.1082G>A (p.Gly361Glu)
n.422G>A
c.361G>A (n.361G>A)
c.857G>A (p.Gly286Glu)
c.659G>A (p.Gly220Glu)
 COSMIC
3g.120633257delCA645535941HGDc.1082del (p.Gly361GlufsTer8)
n.422del
c.361del (n.361del)
c.857del (p.Gly286GlufsTer8)
c.659del (p.Gly220GlufsTer8)
 COSMIC
3g.120633254C>ACA354072880HGDc.1081G>T (p.Gly361Ter)
n.421G>T
c.360G>T (n.360G>T)
c.856G>T (p.Gly286Ter)
c.658G>T (p.Gly220Ter)
3g.120633254C=CA1397090739HGDc.1081G= (p.Gly361=)
n.421G=
c.360G= (n.360G=)
c.856G= (p.Gly286=)
c.658G= (p.Gly220=)
3g.120633254C>GCA2559970HGDc.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
3g.120633254C>TCA354072879HGDc.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
3g.120633255C>ACA435226037HGDc.1080G>T (p.Gly360=)
n.420G>T
c.359G>T (n.359G>T)
c.855G>T (p.Gly285=)
c.657G>T (p.Gly219=)
3g.120633255C=CA1397090740HGDc.1080G= (p.Gly360=)
n.420G=
c.359G= (n.359G=)
c.855G= (p.Gly285=)
c.657G= (p.Gly219=)
3g.120633255C>GCA435226038HGDc.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
3g.120633255C>TCA2559971HGDc.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
3g.120633256C>ACA354072881HGDc.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
3g.120633256C=CA1397090741HGDc.1079G= (p.Gly360=)
n.419G=
c.358G= (n.358G=)
c.854G= (p.Gly285=)
c.656G= (p.Gly219=)
3g.120633256C>GCA354072882HGDc.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
3g.120633256C>TCA354072883HGDc.1079G>A (p.Gly360Glu)
n.419G>A
c.358G>A (n.358G>A)
c.854G>A (p.Gly285Glu)
c.656G>A (p.Gly219Glu)
3g.120633257C>ACA354072884HGDc.1078G>T (p.Gly360Trp)
n.418G>T
c.357G>T (n.357G>T)
c.853G>T (p.Gly285Trp)
c.655G>T (p.Gly219Trp)
3g.120633257C=CA1397090742HGDc.1078G= (p.Gly360=)
n.418G=
c.357G= (n.357G=)
c.853G= (p.Gly285=)
c.655G= (p.Gly219=)
3g.120633257C>GCA2559972HGDc.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
3g.120633257C>TCA354072885HGDc.1078G>A (p.Gly360Arg)
n.418G>A
c.357G>A (n.357G>A)
c.853G>A (p.Gly285Arg)
c.655G>A (p.Gly219Arg)
3g.120633258T>ACA435226049HGDc.1077A>T (p.Pro359=)
n.417A>T
c.356A>T (n.356A>T)
c.852A>T (p.Pro284=)
c.654A>T (p.Pro218=)
3g.120633258T>CCA435226050HGDc.1077A>G (p.Pro359=)
n.417A>G
c.356A>G (n.356A>G)
c.852A>G (p.Pro284=)
c.654A>G (p.Pro218=)
3g.120633258T>GCA435226052HGDc.1077A>C (p.Pro359=)
n.417A>C
c.356A>C (n.356A>C)
c.852A>C (p.Pro284=)
c.654A>C (p.Pro218=)
3g.120633259G>ACA2559973HGDc.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
3g.120633259G>CCA354072886HGDc.1076C>G (p.Pro359Arg)
n.416C>G
c.355C>G (n.355C>G)
c.851C>G (p.Pro284Arg)
c.653C>G (p.Pro218Arg)
3g.120633259G=CA1397090743HGDc.1076C= (p.Pro359=)
n.416C=
c.355C= (n.355C=)
c.851C= (p.Pro284=)
c.653C= (p.Pro218=)
3g.120633259G>TCA354072887HGDc.1076C>A (p.Pro359Gln)
n.416C>A
c.355C>A (n.355C>A)
c.851C>A (p.Pro284Gln)
c.653C>A (p.Pro218Gln)
3g.120633260G>ACA354072888HGDc.1075C>T (p.Pro359Ser)
n.415C>T
c.354C>T (n.354C>T)
c.850C>T (p.Pro284Ser)
c.652C>T (p.Pro218Ser)
 ClinVar
3g.120633260G>CCA354072889HGDc.1075C>G (p.Pro359Ala)
n.415C>G
c.354C>G (n.354C>G)
c.850C>G (p.Pro284Ala)
c.652C>G (p.Pro218Ala)
3g.120633260G>TCA354072890HGDc.1075C>A (p.Pro359Thr)
n.415C>A
c.354C>A (n.354C>A)
c.850C>A (p.Pro284Thr)
c.652C>A (p.Pro218Thr)
3g.120633261C>ACA435226061HGDc.1074G>T (p.Leu358=)
n.414G>T
c.353G>T (n.353G>T)
c.849G>T (p.Leu283=)
c.651G>T (p.Leu217=)
3g.120633261C=CA1397090744HGDc.1074G= (p.Leu358=)
n.414G=
c.353G= (n.353G=)
c.849G= (p.Leu283=)
c.651G= (p.Leu217=)
3g.120633261C>GCA435226063HGDc.1074G>C (p.Leu358=)
n.414G>C
c.353G>C (n.353G>C)
c.849G>C (p.Leu283=)
c.651G>C (p.Leu217=)
3g.120633261C>TCA435226065HGDc.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
3g.120633262A>CCA354072893HGDc.1073T>G (p.Leu358Arg)
n.413T>G
c.352T>G (n.352T>G)
c.848T>G (p.Leu283Arg)
c.650T>G (p.Leu217Arg)
3g.120633262A>GCA354072892HGDc.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
3g.120633262A>TCA354072891HGDc.1073T>A (p.Leu358Gln)
n.413T>A
c.352T>A (n.352T>A)
c.848T>A (p.Leu283Gln)
c.650T>A (p.Leu217Gln)
3g.120633263G>ACA435226070HGDc.1072C>T (p.Leu358=)
n.412C>T
c.351C>T (n.351C>T)
c.847C>T (p.Leu283=)
c.649C>T (p.Leu217=)
3g.120633263G>CCA354072894HGDc.1072C>G (p.Leu358Val)
n.412C>G
c.351C>G (n.351C>G)
c.847C>G (p.Leu283Val)
c.649C>G (p.Leu217Val)
3g.120633263G>TCA354072895HGDc.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
3g.120633264G>ACA435226073HGDc.1071C>T (p.Phe357=)
n.411C>T
c.350C>T (n.350C>T)
c.846C>T (p.Phe282=)
c.648C>T (p.Phe216=)
 COSMIC
3g.120633264G>CCA354072896HGDc.1071C>G (p.Phe357Leu)
n.411C>G
c.350C>G (n.350C>G)
c.846C>G (p.Phe282Leu)
c.648C>G (p.Phe216Leu)
3g.120633264G>TCA354072897HGDc.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
3g.120633265A>CCA354072898HGDc.1070T>G (p.Phe357Cys)
n.410T>G
c.349T>G (n.349T>G)
c.845T>G (p.Phe282Cys)
c.647T>G (p.Phe216Cys)
3g.120633265A>GCA354072899HGDc.1070T>C (p.Phe357Ser)
n.410T>C
c.349T>C (n.349T>C)
c.845T>C (p.Phe282Ser)
c.647T>C (p.Phe216Ser)
3g.120633265A>TCA354072900HGDc.1070T>A (p.Phe357Tyr)
n.410T>A
c.349T>A (n.349T>A)
c.845T>A (p.Phe282Tyr)
c.647T>A (p.Phe216Tyr)
3g.120633266A=CA1397090745HGDc.1069T= (p.Phe357=)
n.409T=
c.348T= (n.348T=)
c.844T= (p.Phe282=)
c.646T= (p.Phe216=)
3g.120633266A>CCA354072901HGDc.1069T>G (p.Phe357Val)
n.409T>G
c.348T>G (n.348T>G)
c.844T>G (p.Phe282Val)
c.646T>G (p.Phe216Val)
3g.120633266A>GCA354072902HGDc.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
3g.120633266A>TCA2559974HGDc.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
3g.120633267C>ACA435226085HGDc.1068G>T (p.Gly356=)
n.408G>T
c.347G>T (n.347G>T)
c.843G>T (p.Gly281=)
c.645G>T (p.Gly215=)
3g.120633267C=CA1397090746HGDc.1068G= (p.Gly356=)
n.408G=
c.347G= (n.347G=)
c.843G= (p.Gly281=)
c.645G= (p.Gly215=)
3g.120633267C>GCA435226087HGDc.1068G>C (p.Gly356=)
n.408G>C
c.347G>C (n.347G>C)
c.843G>C (p.Gly281=)
c.645G>C (p.Gly215=)
3g.120633267C>TCA435226089HGDc.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
3g.120633268C>ACA354072903HGDc.1067G>T (p.Gly356Val)
n.407G>T
c.346G>T (n.346G>T)
c.842G>T (p.Gly281Val)
c.644G>T (p.Gly215Val)
3g.120633268C=CA1397090747HGDc.1067G= (p.Gly356=)
n.407G=
c.346G= (n.346G=)
c.842G= (p.Gly281=)
c.644G= (p.Gly215=)
3g.120633268C>GCA354072904HGDc.1067G>C (p.Gly356Ala)
n.407G>C
c.346G>C (n.346G>C)
c.842G>C (p.Gly281Ala)
c.644G>C (p.Gly215Ala)
3g.120633268C>TCA354072905HGDc.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
3g.120633269C>ACA354072908HGDc.1066G>T (p.Gly356Trp)
n.406G>T
c.345G>T (n.345G>T)
c.841G>T (p.Gly281Trp)
c.643G>T (p.Gly215Trp)
3g.120633269C>GCA354072907HGDc.1066G>C (p.Gly356Arg)
n.406G>C
c.345G>C (n.345G>C)
c.841G>C (p.Gly281Arg)
c.643G>C (p.Gly215Arg)
3g.120633269C>TCA354072906HGDc.1066G>A (p.Gly356Arg)
n.406G>A
c.345G>A (n.345G>A)
c.841G>A (p.Gly281Arg)
c.643G>A (p.Gly215Arg)
3g.120633270A=CA1397090748HGDc.1065T= (p.Gly355=)
n.405T=
c.344T= (n.344T=)
c.840T= (p.Gly280=)
c.642T= (p.Gly214=)
3g.120633270A>CCA435226098HGDc.1065T>G (p.Gly355=)
n.405T>G
c.344T>G (n.344T>G)
c.840T>G (p.Gly280=)
c.642T>G (p.Gly214=)
3g.120633270A>GCA435226101HGDc.1065T>C (p.Gly355=)
n.405T>C
c.344T>C (n.344T>C)
c.840T>C (p.Gly280=)
c.642T>C (p.Gly214=)
3g.120633270A>TCA435226099HGDc.1065T>A (p.Gly355=)
n.405T>A
c.344T>A (n.344T>A)
c.840T>A (p.Gly280=)
c.642T>A (p.Gly214=)
3g.120633271C>ACA354072909HGDc.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
3g.120633271C=CA1397090749HGDc.1064G= (p.Gly355=)
n.404G=
c.343G= (n.343G=)
c.839G= (p.Gly280=)
c.641G= (p.Gly214=)
3g.120633271C>GCA354072910HGDc.1064G>C (p.Gly355Ala)
n.404G>C
c.343G>C (n.343G>C)
c.839G>C (p.Gly280Ala)
c.641G>C (p.Gly214Ala)
3g.120633271C>TCA2559975HGDc.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
3g.120633272dupCA16040885HGDc.1064dup (p.Gly356TrpfsTer19)
n.404dup
c.343dup (n.343dup)
c.839dup (p.Gly281TrpfsTer19)
c.641dup (p.Gly215TrpfsTer19)
 ClinVar dbSNP
3g.120633272C>ACA354072911HGDc.1063G>T (p.Gly355Cys)
n.403G>T
c.342G>T (n.342G>T)
c.838G>T (p.Gly280Cys)
c.640G>T (p.Gly214Cys)
3g.120633272C=CA1397090750HGDc.1063G= (p.Gly355=)
n.403G=
c.342G= (n.342G=)
c.838G= (p.Gly280=)
c.640G= (p.Gly214=)
3g.120633272C>GCA354072912HGDc.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
3g.120633272C>TCA81777983HGDc.1063G>A (p.Gly355Ser)
n.403G>A
c.342G>A (n.342G>A)
c.838G>A (p.Gly280Ser)
c.640G>A (p.Gly214Ser)
 dbSNP
3g.120633273T>ACA354072913HGDc.1062A>T (p.Gln354His)
n.402A>T
c.341A>T (n.341A>T)
c.837A>T (p.Gln279His)
c.639A>T (p.Gln213His)
3g.120633273T>CCA435226123HGDc.1062A>G (p.Gln354=)
n.402A>G
c.341A>G (n.341A>G)
c.837A>G (p.Gln279=)
c.639A>G (p.Gln213=)
3g.120633273T>GCA354072914HGDc.1062A>C (p.Gln354His)
n.402A>C
c.341A>C (n.341A>C)
c.837A>C (p.Gln279His)
c.639A>C (p.Gln213His)
3g.120633274T>ACA354072915HGDc.1061A>T (p.Gln354Leu)
n.401A>T
c.340A>T (n.340A>T)
c.836A>T (p.Gln279Leu)
c.638A>T (p.Gln213Leu)
3g.120633274T>CCA354072916HGDc.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
3g.120633274T>GCA354072917HGDc.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
3g.120633274T=CA1397090751HGDc.1061A= (p.Gln354=)
n.401A=
c.340A= (n.340A=)
c.836A= (p.Gln279=)
c.638A= (p.Gln213=)
3g.120633275G>ACA2559976HGDc.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
3g.120633275G>CCA354072918HGDc.1060C>G (p.Gln354Glu)
n.400C>G
c.339C>G (n.339C>G)
c.835C>G (p.Gln279Glu)
c.637C>G (p.Gln213Glu)
 COSMIC
3g.120633275G=CA1397090752HGDc.1060C= (p.Gln354=)
n.400C=
c.339C= (n.339C=)
c.835C= (p.Gln279=)
c.637C= (p.Gln213=)
3g.120633275G>TCA354072919HGDc.1060C>A (p.Gln354Lys)
n.400C>A
c.339C>A (n.339C>A)
c.835C>A (p.Gln279Lys)
c.637C>A (p.Gln213Lys)
3g.120633276C>ACA354072920HGDc.1059G>T (p.Lys353Asn)
n.399G>T
c.338G>T (n.338G>T)
c.834G>T (p.Lys278Asn)
c.636G>T (p.Lys212Asn)
3g.120633276C>GCA354072921HGDc.1059G>C (p.Lys353Asn)
n.399G>C
c.338G>C (n.338G>C)
c.834G>C (p.Lys278Asn)
c.636G>C (p.Lys212Asn)
3g.120633276C>TCA435226141HGDc.1059G>A (p.Lys353=)
n.399G>A
c.338G>A (n.338G>A)
c.834G>A (p.Lys278=)
c.636G>A (p.Lys212=)
 COSMIC
3g.120633277T>ACA354072924HGDc.1058A>T (p.Lys353Met)
n.398A>T
c.337A>T (n.337A>T)
c.833A>T (p.Lys278Met)
c.635A>T (p.Lys212Met)
3g.120633277T>CCA354072923HGDc.1058A>G (p.Lys353Arg)
n.398A>G
c.337A>G (n.337A>G)
c.833A>G (p.Lys278Arg)
c.635A>G (p.Lys212Arg)
3g.120633277T>GCA354072922HGDc.1058A>C (p.Lys353Thr)
n.398A>C
c.337A>C (n.337A>C)
c.833A>C (p.Lys278Thr)
c.635A>C (p.Lys212Thr)
3g.120633278T>ACA354072925HGDc.1057A>T (p.Lys353Ter)
n.397A>T
c.336A>T (n.336A>T)
c.832A>T (p.Lys278Ter)
c.634A>T (p.Lys212Ter)
3g.120633278T>CCA354072926HGDc.1057A>G (p.Lys353Glu)
n.397A>G
c.336A>G (n.336A>G)
c.832A>G (p.Lys278Glu)
c.634A>G (p.Lys212Glu)
3g.120633278T>GCA354072927HGDc.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
3g.120633278T=CA1397090753HGDc.1057A= (p.Lys353=)
n.397A=
c.336A= (n.336A=)
c.832A= (p.Lys278=)
c.634A= (p.Lys212=)
3g.120633279T>ACA435226153HGDc.1056A>T (p.Ala352=)
n.396A>T
c.335A>T (n.335A>T)
c.831A>T (p.Ala277=)
c.633A>T (p.Ala211=)
3g.120633279T>CCA435226154HGDc.1056A>G (p.Ala352=)
n.396A>G
c.335A>G (n.335A>G)
c.831A>G (p.Ala277=)
c.633A>G (p.Ala211=)
3g.120633279T>GCA435226156HGDc.1056A>C (p.Ala352=)
n.396A>C
c.335A>C (n.335A>C)
c.831A>C (p.Ala277=)
c.633A>C (p.Ala211=)
3g.120633280G>ACA354072928HGDc.1055C>T (p.Ala352Val)
n.395C>T
c.334C>T (n.334C>T)
c.830C>T (p.Ala277Val)
c.632C>T (p.Ala211Val)
3g.120633280G>CCA354072929HGDc.1055C>G (p.Ala352Gly)
n.395C>G
c.334C>G (n.334C>G)
c.830C>G (p.Ala277Gly)
c.632C>G (p.Ala211Gly)
3g.120633280G>TCA354072930HGDc.1055C>A (p.Ala352Glu)
n.395C>A
c.334C>A (n.334C>A)
c.830C>A (p.Ala277Glu)
c.632C>A (p.Ala211Glu)
3g.120633281C>ACA354072931HGDc.1054G>T (p.Ala352Ser)
n.394G>T
c.333G>T (n.333G>T)
c.829G>T (p.Ala277Ser)
c.631G>T (p.Ala211Ser)
3g.120633281C>GCA354072932HGDc.1054G>C (p.Ala352Pro)
n.394G>C
c.333G>C (n.333G>C)
c.829G>C (p.Ala277Pro)
c.631G>C (p.Ala211Pro)
3g.120633281C>TCA354072933HGDc.1054G>A (p.Ala352Thr)
n.394G>A
c.333G>A (n.333G>A)
c.829G>A (p.Ala277Thr)
c.631G>A (p.Ala211Thr)
3g.120633282C>ACA354072934HGDc.1053G>T (p.Glu351Asp)
n.393G>T
c.332G>T (n.332G>T)
c.828G>T (p.Glu276Asp)
c.630G>T (p.Glu210Asp)
3g.120633282C=CA1397090754HGDc.1053G= (p.Glu351=)
n.393G=
c.332G= (n.332G=)
c.828G= (p.Glu276=)
c.630G= (p.Glu210=)
3g.120633282C>GCA354072935HGDc.1053G>C (p.Glu351Asp)
n.393G>C
c.332G>C (n.332G>C)
c.828G>C (p.Glu276Asp)
c.630G>C (p.Glu210Asp)
3g.120633282C>TCA435226165HGDc.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
3g.120633283T>ACA354072937HGDc.1052A>T (p.Glu351Val)
n.392A>T
c.331A>T (n.331A>T)
c.827A>T (p.Glu276Val)
c.629A>T (p.Glu210Val)
3g.120633283T>CCA354072938HGDc.1052A>G (p.Glu351Gly)
n.392A>G
c.331A>G (n.331A>G)
c.827A>G (p.Glu276Gly)
c.629A>G (p.Glu210Gly)
3g.120633283T>GCA354072936HGDc.1052A>C (p.Glu351Ala)
n.392A>C
c.331A>C (n.331A>C)
c.827A>C (p.Glu276Ala)
c.629A>C (p.Glu210Ala)
3g.120633284C>ACA354072939HGDc.1051G>T (p.Glu351Ter)
n.391G>T
c.330G>T (n.330G>T)
c.826G>T (p.Glu276Ter)
c.628G>T (p.Glu210Ter)
3g.120633284C>GCA354072940HGDc.1051G>C (p.Glu351Gln)
n.391G>C
c.330G>C (n.330G>C)
c.826G>C (p.Glu276Gln)
c.628G>C (p.Glu210Gln)
3g.120633284C>TCA354072941HGDc.1051G>A (p.Glu351Lys)
n.391G>A
c.330G>A (n.330G>A)
c.826G>A (p.Glu276Lys)
c.628G>A (p.Glu210Lys)
3g.120633285A>CCA354072942HGDc.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
3g.120633285A>GCA435226174HGDc.1050T>C (p.Tyr350=)
n.390T>C
c.329T>C (n.329T>C)
c.825T>C (p.Tyr275=)
c.627T>C (p.Tyr209=)
3g.120633285A>TCA354072943HGDc.1050T>A (p.Tyr350Ter)
n.390T>A
c.329T>A (n.329T>A)
c.825T>A (p.Tyr275Ter)
c.627T>A (p.Tyr209Ter)
3g.120633286T>ACA354072946HGDc.1049A>T (p.Tyr350Phe)
n.389A>T
c.328A>T (n.328A>T)
c.824A>T (p.Tyr275Phe)
c.626A>T (p.Tyr209Phe)
3g.120633286T>CCA354072944HGDc.1049A>G (p.Tyr350Cys)
n.389A>G
c.328A>G (n.328A>G)
c.824A>G (p.Tyr275Cys)
c.626A>G (p.Tyr209Cys)
 ClinVar
3g.120633286T>GCA354072945HGDc.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
3g.120633286T=CA1397090755HGDc.1049A= (p.Tyr350=)
n.389A=
c.328A= (n.328A=)
c.824A= (p.Tyr275=)
c.626A= (p.Tyr209=)
3g.120633287A=CA1397090756HGDc.1048T= (p.Tyr350=)
n.388T=
c.327T= (n.327T=)
c.823T= (p.Tyr275=)
c.625T= (p.Tyr209=)
3g.120633287A>CCA354072947HGDc.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
3g.120633287A>GCA354072948HGDc.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
3g.120633287A>TCA354072949HGDc.1048T>A (p.Tyr350Asn)
n.388T>A
c.327T>A (n.327T>A)
c.823T>A (p.Tyr275Asn)
c.625T>A (p.Tyr209Asn)
3g.120633288G>ACA435226185HGDc.1047C>T (p.His349=)
n.387C>T
c.326C>T (n.326C>T)
c.822C>T (p.His274=)
c.624C>T (p.His208=)
3g.120633288G>CCA354072950HGDc.1047C>G (p.His349Gln)
n.387C>G
c.326C>G (n.326C>G)
c.822C>G (p.His274Gln)
c.624C>G (p.His208Gln)
3g.120633288G>TCA354072951HGDc.1047C>A (p.His349Gln)
n.387C>A
c.326C>A (n.326C>A)
c.822C>A (p.His274Gln)
c.624C>A (p.His208Gln)
3g.120633289T>ACA354072952HGDc.1046A>T (p.His349Leu)
n.386A>T
c.325A>T (n.325A>T)
c.821A>T (p.His274Leu)
c.623A>T (p.His208Leu)
3g.120633289T>CCA2559977HGDc.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
3g.120633289T>GCA354072953HGDc.1046A>C (p.His349Pro)
n.386A>C
c.325A>C (n.325A>C)
c.821A>C (p.His274Pro)
c.623A>C (p.His208Pro)
3g.120633289T=CA1397090757HGDc.1046A= (p.His349=)
n.386A=
c.325A= (n.325A=)
c.821A= (p.His274=)
c.623A= (p.His208=)
3g.120633290G>ACA354072954HGDc.1045C>T (p.His349Tyr)
n.385C>T
c.324C>T (n.324C>T)
c.820C>T (p.His274Tyr)
c.622C>T (p.His208Tyr)
3g.120633290G>CCA354072955HGDc.1045C>G (p.His349Asp)
n.385C>G
c.324C>G (n.324C>G)
c.820C>G (p.His274Asp)
c.622C>G (p.His208Asp)
3g.120633290G>TCA354072956HGDc.1045C>A (p.His349Asn)
n.385C>A
c.324C>A (n.324C>A)
c.820C>A (p.His274Asn)
c.622C>A (p.His208Asn)
3g.120633291A>CCA435226195HGDc.1044T>G (p.Gly348=)
n.384T>G
c.323T>G (n.323T>G)
c.819T>G (p.Gly273=)
c.621T>G (p.Gly207=)
3g.120633291A>GCA435226197HGDc.1044T>C (p.Gly348=)
n.384T>C
c.323T>C (n.323T>C)
c.819T>C (p.Gly273=)
c.621T>C (p.Gly207=)
3g.120633291A>TCA435226199HGDc.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
3g.120633292C>ACA354072957HGDc.1043G>T (p.Gly348Val)
n.383G>T
c.322G>T (n.322G>T)
c.818G>T (p.Gly273Val)
c.620G>T (p.Gly207Val)
3g.120633292C=CA1397090758HGDc.1043G= (p.Gly348=)
n.383G=
c.322G= (n.322G=)
c.818G= (p.Gly273=)
c.620G= (p.Gly207=)
3g.120633292C>GCA354072958HGDc.1043G>C (p.Gly348Ala)
n.383G>C
c.322G>C (n.322G>C)
c.818G>C (p.Gly273Ala)
c.620G>C (p.Gly207Ala)
3g.120633292C>TCA354072959HGDc.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
3g.120633293C>ACA354072960HGDc.1042G>T (p.Gly348Cys)
n.382G>T
c.321G>T (n.321G>T)
c.817G>T (p.Gly273Cys)
c.619G>T (p.Gly207Cys)
3g.120633293C>GCA354072961HGDc.1042G>C (p.Gly348Arg)
n.382G>C
c.321G>C (n.321G>C)
c.817G>C (p.Gly273Arg)
c.619G>C (p.Gly207Arg)
3g.120633293C>TCA354072962HGDc.1042G>A (p.Gly348Ser)
n.382G>A
c.321G>A (n.321G>A)
c.817G>A (p.Gly273Ser)
c.619G>A (p.Gly207Ser)
3g.120633294T>ACA435226206HGDc.1041A>T (p.Arg347=)
n.381A>T
c.320A>T (n.320A>T)
c.816A>T (p.Arg272=)
c.618A>T (p.Arg206=)
3g.120633294T>CCA81778009HGDc.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
3g.120633294T>GCA435226210HGDc.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
3g.120633294T=CA1397090759HGDc.1041A= (p.Arg347=)
n.381A=
c.320A= (n.320A=)
c.816A= (p.Arg272=)
c.618A= (p.Arg206=)
3g.120633295C>ACA354072963HGDc.1040G>T (p.Arg347Leu)
n.380G>T
c.319G>T (n.319G>T)
c.815G>T (p.Arg272Leu)
c.617G>T (p.Arg206Leu)
 dbSNP
3g.120633295C=CA1397090760HGDc.1040G= (p.Arg347=)
n.380G=
c.319G= (n.319G=)
c.815G= (p.Arg272=)
c.617G= (p.Arg206=)
3g.120633295C>GCA354072964HGDc.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
3g.120633295C>TCA354072965HGDc.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
3g.120633296G>ACA81778012HGDc.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
3g.120633296G>CCA354072966HGDc.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
3g.120633296G=CA1397090761HGDc.1039C= (p.Arg347=)
n.379C=
c.318C= (n.318C=)
c.814C= (p.Arg272=)
c.616C= (p.Arg206=)
3g.120633296G>TCA435226217HGDc.1039C>A (p.Arg347=)
n.379C>A
c.318C>A (n.318C>A)
c.814C>A (p.Arg272=)
c.616C>A (p.Arg206=)
3g.120633297G>ACA435226222HGDc.1038C>T (p.Ile346=)
n.378C>T
c.317C>T (n.317C>T)
c.813C>T (p.Ile271=)
c.615C>T (p.Ile205=)
 COSMIC
3g.120633297G>CCA354072967HGDc.1038C>G (p.Ile346Met)
n.378C>G
c.317C>G (n.317C>G)
c.813C>G (p.Ile271Met)
c.615C>G (p.Ile205Met)
3g.120633297G>TCA435226220HGDc.1038C>A (p.Ile346=)
n.378C>A
c.317C>A (n.317C>A)
c.813C>A (p.Ile271=)
c.615C>A (p.Ile205=)
3g.120633298A=CA1397090762HGDc.1037T= (p.Ile346=)
n.377T=
c.316T= (n.316T=)
c.812T= (p.Ile271=)
c.614T= (p.Ile205=)
3g.120633298A>CCA354072970HGDc.1037T>G (p.Ile346Ser)
n.377T>G
c.316T>G (n.316T>G)
c.812T>G (p.Ile271Ser)
c.614T>G (p.Ile205Ser)
3g.120633298A>GCA354072968HGDc.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
3g.120633298A>TCA354072969HGDc.1037T>A (p.Ile346Asn)
n.377T>A
c.316T>A (n.316T>A)
c.812T>A (p.Ile271Asn)
c.614T>A (p.Ile205Asn)
3g.120633299T>ACA354072971HGDc.1036A>T (p.Ile346Phe)
n.376A>T
c.315A>T (n.315A>T)
c.811A>T (p.Ile271Phe)
c.613A>T (p.Ile205Phe)
3g.120633299T>CCA354072972HGDc.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
3g.120633299T>GCA354072973HGDc.1036A>C (p.Ile346Leu)
n.376A>C
c.315A>C (n.315A>C)
c.811A>C (p.Ile271Leu)
c.613A>C (p.Ile205Leu)
3g.120633300G>ACA435226226HGDc.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
3g.120633300G>CCA435226227HGDc.1035C>G (p.Leu345=)
n.375C>G
c.314C>G (n.314C>G)
c.810C>G (p.Leu270=)
c.612C>G (p.Leu204=)
3g.120633300G=CA1397090763HGDc.1035C= (p.Leu345=)
n.375C=
c.314C= (n.314C=)
c.810C= (p.Leu270=)
c.612C= (p.Leu204=)
3g.120633300G>TCA435226228HGDc.1035C>A (p.Leu345=)
n.375C>A
c.314C>A (n.314C>A)
c.810C>A (p.Leu270=)
c.612C>A (p.Leu204=)
3g.120633301A=CA1397090764HGDc.1034T= (p.Leu345=)
n.374T=
c.313T= (n.313T=)
c.809T= (p.Leu270=)
c.611T= (p.Leu204=)
3g.120633301A>CCA354072976HGDc.1034T>G (p.Leu345Arg)
n.374T>G
c.313T>G (n.313T>G)
c.809T>G (p.Leu270Arg)
c.611T>G (p.Leu204Arg)
 ClinVar
3g.120633301A>GCA354072975HGDc.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
3g.120633301A>TCA354072974HGDc.1034T>A (p.Leu345His)
n.374T>A
c.313T>A (n.313T>A)
c.809T>A (p.Leu270His)
c.611T>A (p.Leu204His)
3g.120633302G>ACA354072977HGDc.1033C>T (p.Leu345Phe)
n.373C>T
c.312C>T (n.312C>T)
c.808C>T (p.Leu270Phe)
c.610C>T (p.Leu204Phe)
3g.120633302G>CCA354072978HGDc.1033C>G (p.Leu345Val)
n.373C>G
c.312C>G (n.312C>G)
c.808C>G (p.Leu270Val)
c.610C>G (p.Leu204Val)
3g.120633302G>TCA354072979HGDc.1033C>A (p.Leu345Ile)
n.373C>A
c.312C>A (n.312C>A)
c.808C>A (p.Leu270Ile)
c.610C>A (p.Leu204Ile)
3g.120633303T>ACA435226237HGDc.1032A>T (p.Gly344=)
n.372A>T
c.311A>T (n.311A>T)
c.807A>T (p.Gly269=)
c.609A>T (p.Gly203=)
3g.120633303T>CCA435226240HGDc.1032A>G (p.Gly344=)
n.372A>G
c.311A>G (n.311A>G)
c.807A>G (p.Gly269=)
c.609A>G (p.Gly203=)
3g.120633303T>GCA435226238HGDc.1032A>C (p.Gly344=)
n.372A>C
c.311A>C (n.311A>C)
c.807A>C (p.Gly269=)
c.609A>C (p.Gly203=)
3g.120633303_120633304delinsTCCA1397090765HGDc.1031_1032delinsGA (p.Gly344=)
n.371_372delinsGA
c.310_311delinsGA (n.310_311delinsGA)
c.806_807delinsGA (p.Gly269=)
c.608_609delinsGA (p.Gly203=)
3g.120633304C>ACA354072980HGDc.1031G>T (p.Gly344Val)
n.371G>T
c.310G>T (n.310G>T)
c.806G>T (p.Gly269Val)
c.608G>T (p.Gly203Val)
3g.120633304C>GCA354072981HGDc.1031G>C (p.Gly344Ala)
n.371G>C
c.310G>C (n.310G>C)
c.806G>C (p.Gly269Ala)
c.608G>C (p.Gly203Ala)
3g.120633304C>TCA354072982HGDc.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
3g.120633306delCA545608360HGDc.1031del (p.Gly344AspfsTer25)
n.371del
c.310del (n.310del)
c.806del (p.Gly269AspfsTer25)
c.608del (p.Gly203AspfsTer25)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.120633305C>ACA354072983HGDc.1030G>T (p.Gly344Ter)
n.370G>T
c.309G>T (n.309G>T)
c.805G>T (p.Gly269Ter)
c.607G>T (p.Gly203Ter)
3g.120633305C>GCA354072985HGDc.1030G>C (p.Gly344Arg)
n.370G>C
c.309G>C (n.309G>C)
c.805G>C (p.Gly269Arg)
c.607G>C (p.Gly203Arg)
3g.120633305C>TCA354072984HGDc.1030G>A (p.Gly344Arg)
n.370G>A
c.309G>A (n.309G>A)
c.805G>A (p.Gly269Arg)
c.607G>A (p.Gly203Arg)
3g.120633306C>ACA354072986HGDc.1029G>T (p.Met343Ile)
n.369G>T
c.308G>T (n.308G>T)
c.804G>T (p.Met268Ile)
c.606G>T (p.Met202Ile)
3g.120633306C=CA1397090766HGDc.1029G= (p.Met343=)
n.369G=
c.308G= (n.308G=)
c.804G= (p.Met268=)
c.606G= (p.Met202=)
3g.120633306C>GCA354072987HGDc.1029G>C (p.Met343Ile)
n.369G>C
c.308G>C (n.308G>C)
c.804G>C (p.Met268Ile)
c.606G>C (p.Met202Ile)
3g.120633306C>TCA81778016HGDc.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
3g.120633307A=CA1397090767HGDc.1028T= (p.Met343=)
n.368T=
c.307T= (n.307T=)
c.803T= (p.Met268=)
c.605T= (p.Met202=)
3g.120633307A>CCA354072988HGDc.1028T>G (p.Met343Arg)
n.368T>G
c.307T>G (n.307T>G)
c.803T>G (p.Met268Arg)
c.605T>G (p.Met202Arg)
3g.120633307A>GCA354072989HGDc.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
3g.120633307A>TCA354072990HGDc.1028T>A (p.Met343Lys)
n.368T>A
c.307T>A (n.307T>A)
c.803T>A (p.Met268Lys)
c.605T>A (p.Met202Lys)
3g.120633308T>ACA354072991HGDc.1027A>T (p.Met343Leu)
n.367A>T
c.306A>T (n.306A>T)
c.802A>T (p.Met268Leu)
c.604A>T (p.Met202Leu)
3g.120633308T>CCA354072992HGDc.1027A>G (p.Met343Val)
n.367A>G
c.306A>G (n.306A>G)
c.802A>G (p.Met268Val)
c.604A>G (p.Met202Val)
3g.120633308T>GCA2559978HGDc.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
3g.120633308T=CA1397090768HGDc.1027A= (p.Met343=)
n.367A=
c.306A= (n.306A=)
c.802A= (p.Met268=)
c.604A= (p.Met202=)
3g.120633309G>ACA435226266HGDc.1026C>T (p.Phe342=)
n.366C>T
c.305C>T (n.305C>T)
c.801C>T (p.Phe267=)
c.603C>T (p.Phe201=)
3g.120633309G>CCA354072993HGDc.1026C>G (p.Phe342Leu)
n.366C>G
c.305C>G (n.305C>G)
c.801C>G (p.Phe267Leu)
c.603C>G (p.Phe201Leu)
3g.120633309G>TCA354072994HGDc.1026C>A (p.Phe342Leu)
n.366C>A
c.305C>A (n.305C>A)
c.801C>A (p.Phe267Leu)
c.603C>A (p.Phe201Leu)
3g.120633310A>CCA354072997HGDc.1025T>G (p.Phe342Cys)
n.365T>G
c.304T>G (n.304T>G)
c.800T>G (p.Phe267Cys)
c.602T>G (p.Phe201Cys)
3g.120633310A>GCA354072996HGDc.1025T>C (p.Phe342Ser)
n.365T>C
c.304T>C (n.304T>C)
c.800T>C (p.Phe267Ser)
c.602T>C (p.Phe201Ser)
3g.120633310A>TCA354072995HGDc.1025T>A (p.Phe342Tyr)
n.365T>A
c.304T>A (n.304T>A)
c.800T>A (p.Phe267Tyr)
c.602T>A (p.Phe201Tyr)
3g.120633311A>CCA354072998HGDc.1024T>G (p.Phe342Val)
n.364T>G
c.303T>G (n.303T>G)
c.799T>G (p.Phe267Val)
c.601T>G (p.Phe201Val)
3g.120633311A>GCA354072999HGDc.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
3g.120633311A>TCA354073000HGDc.1024T>A (p.Phe342Ile)
n.364T>A
c.303T>A (n.303T>A)
c.799T>A (p.Phe267Ile)
c.601T>A (p.Phe201Ile)
3g.120633312C>ACA354073001HGDc.1023G>T (p.Glu341Asp)
n.363G>T
c.302G>T (n.302G>T)
c.798G>T (p.Glu266Asp)
c.600G>T (p.Glu200Asp)
3g.120633312C=CA1397090769HGDc.1023G= (p.Glu341=)
n.363G=
c.302G= (n.302G=)
c.798G= (p.Glu266=)
c.600G= (p.Glu200=)
3g.120633312C>GCA354073002HGDc.1023G>C (p.Glu341Asp)
n.363G>C
c.302G>C (n.302G>C)
c.798G>C (p.Glu266Asp)
c.600G>C (p.Glu200Asp)
 dbSNP
3g.120633312C>TCA435226295HGDc.1023G>A (p.Glu341=)
n.363G>A
c.302G>A (n.302G>A)
c.798G>A (p.Glu266=)
c.600G>A (p.Glu200=)
3g.120633313T>ACA354073005HGDc.1022A>T (p.Glu341Val)
n.362A>T
c.301A>T (n.301A>T)
c.797A>T (p.Glu266Val)
c.599A>T (p.Glu200Val)
3g.120633313T>CCA354073004HGDc.1022A>G (p.Glu341Gly)
n.362A>G
c.301A>G (n.301A>G)
c.797A>G (p.Glu266Gly)
c.599A>G (p.Glu200Gly)
3g.120633313T>GCA354073003HGDc.1022A>C (p.Glu341Ala)
n.362A>C
c.301A>C (n.301A>C)
c.797A>C (p.Glu266Ala)
c.599A>C (p.Glu200Ala)
3g.120633314C>ACA354073006HGDc.1021G>T (p.Glu341Ter)
n.361G>T
c.300G>T (n.300G>T)
c.796G>T (p.Glu266Ter)
c.598G>T (p.Glu200Ter)
3g.120633314C>GCA354073007HGDc.1021G>C (p.Glu341Gln)
n.361G>C
c.300G>C (n.300G>C)
c.796G>C (p.Glu266Gln)
c.598G>C (p.Glu200Gln)
3g.120633314C>TCA354073008HGDc.1021G>A (p.Glu341Lys)
n.361G>A
c.300G>A (n.300G>A)
c.796G>A (p.Glu266Lys)
c.598G>A (p.Glu200Lys)
3g.120633315A>CCA354073009HGDc.1020T>G (p.Ser340Arg)
n.360T>G
c.299T>G (n.299T>G)
c.795T>G (p.Ser265Arg)
c.597T>G (p.Ser199Arg)
3g.120633315A>GCA435226327HGDc.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
3g.120633315A>TCA354073010HGDc.1020T>A (p.Ser340Arg)
n.360T>A
c.299T>A (n.299T>A)
c.795T>A (p.Ser265Arg)
c.597T>A (p.Ser199Arg)
3g.120633315_120633316delinsACCA1397090770HGDc.1019_1020delinsGT (p.Ser340=)
n.359_360delinsGT
c.298_299delinsGT (n.298_299delinsGT)
c.794_795delinsGT (p.Ser265=)
c.596_597delinsGT (p.Ser199=)
3g.120633315_120633318delinsACTCCA1397090771HGDc.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=)
3g.120633316delCA2559979HGDc.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
3g.120633316C>ACA354073013HGDc.1019G>T (p.Ser340Ile)
n.359G>T
c.298G>T (n.298G>T)
c.794G>T (p.Ser265Ile)
c.596G>T (p.Ser199Ile)
 ClinVar
3g.120633316C>GCA354073011HGDc.1019G>C (p.Ser340Thr)
n.359G>C
c.298G>C (n.298G>C)
c.794G>C (p.Ser265Thr)
c.596G>C (p.Ser199Thr)
3g.120633316C>TCA354073012HGDc.1019G>A (p.Ser340Asn)
n.359G>A
c.298G>A (n.298G>A)
c.794G>A (p.Ser265Asn)
c.596G>A (p.Ser199Asn)
3g.120633316_120633318delinsTACA16040886HGDc.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
3g.120633317delCA354073017HGDc.1018del (p.Ser340ValfsTer29)
n.358del
c.297del (p.Ter99TrpextTer2)
c.793del (p.Ser265ValfsTer29)
c.595del (p.Ser199ValfsTer29)
3g.120633317T>ACA354073014HGDc.1018A>T (p.Ser340Cys)
n.358A>T
c.297A>T (p.Ter99Cys)
c.793A>T (p.Ser265Cys)
c.595A>T (p.Ser199Cys)
3g.120633317T>CCA354073015HGDc.1018A>G (p.Ser340Gly)
n.358A>G
c.297A>G (p.Ter99Trp)
c.793A>G (p.Ser265Gly)
c.595A>G (p.Ser199Gly)
3g.120633317T>GCA354073016HGDc.1018A>C (p.Ser340Arg)
n.358A>C
c.297A>C (p.Ter99Cys)
c.793A>C (p.Ser265Arg)
c.595A>C (p.Ser199Arg)
3g.120633318C>ACA2559980HGDc.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
3g.120633318C=CA1397090772HGDc.1017G= (p.Met339=)
n.357G=
c.296G= (p.Ter99=)
c.792G= (p.Met264=)
c.594G= (p.Met198=)
3g.120633318C>GCA354073018HGDc.1017G>C (p.Met339Ile)
n.357G>C
c.296G>C (p.Ter99Ser)
c.792G>C (p.Met264Ile)
c.594G>C (p.Met198Ile)
3g.120633318C>TCA354073019HGDc.1017G>A (p.Met339Ile)
n.357G>A
c.296G>A (p.Ter99=)
c.792G>A (p.Met264Ile)
c.594G>A (p.Met198Ile)
 gnomAD v4
3g.120633319delCA2582342874HGDc.1016del (p.Met339ArgfsTer30)
n.356del
c.295del (p.Ter99GluextTer2)
c.791del (p.Met264ArgfsTer30)
c.593del (p.Met198ArgfsTer30)
 ClinVar
3g.120633319A>CCA354073020HGDc.1016T>G (p.Met339Arg)
n.356T>G
c.295T>G (p.Ter99Gly)
c.791T>G (p.Met264Arg)
c.593T>G (p.Met198Arg)
3g.120633319A>GCA354073021HGDc.1016T>C (p.Met339Thr)
n.356T>C
c.295T>C (p.Ter99Arg)
c.791T>C (p.Met264Thr)
c.593T>C (p.Met198Thr)
3g.120633319A>TCA354073022HGDc.1016T>A (p.Met339Lys)
n.356T>A
c.295T>A (p.Ter99Arg)
c.791T>A (p.Met264Lys)
c.593T>A (p.Met198Lys)
3g.120633320T>ACA354073025HGDc.1015A>T (p.Met339Leu)
n.355A>T
c.294A>T (p.Ala98=)
c.790A>T (p.Met264Leu)
c.592A>T (p.Met198Leu)
3g.120633320T>CCA354073024HGDc.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
3g.120633320T>GCA354073023HGDc.1015A>C (p.Met339Leu)
n.355A>C
c.294A>C (p.Ala98=)
c.790A>C (p.Met264Leu)
c.592A>C (p.Met198Leu)
3g.120633320T=CA1397090773HGDc.1015A= (p.Met339=)
n.355A=
c.294A= (p.Ala98=)
c.790A= (p.Met264=)
c.592A= (p.Met198=)
3g.120633321G>ACA2559981HGDc.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
3g.120633321G>CCA354073027HGDc.1014C>G (p.Cys338Trp)
n.354C>G
c.293C>G (p.Ala98Gly)
c.789C>G (p.Cys263Trp)
c.591C>G (p.Cys197Trp)
3g.120633321G=CA1397090774HGDc.1014C= (p.Cys338=)
n.354C=
c.293C= (p.Ala98=)
c.789C= (p.Cys263=)
c.591C= (p.Cys197=)
3g.120633321G>TCA354073026HGDc.1014C>A (p.Cys338Ter)
n.354C>A
c.293C>A (p.Ala98Glu)
c.789C>A (p.Cys263Ter)
c.591C>A (p.Cys197Ter)
3g.120633322C>ACA354073028HGDc.1013G>T (p.Cys338Phe)
n.353G>T
c.292G>T (p.Ala98Ser)
c.788G>T (p.Cys263Phe)
c.590G>T (p.Cys197Phe)
3g.120633322C>GCA354073030HGDc.1013G>C (p.Cys338Ser)
n.353G>C
c.292G>C (p.Ala98Pro)
c.788G>C (p.Cys263Ser)
c.590G>C (p.Cys197Ser)
3g.120633322C>TCA354073029HGDc.1013G>A (p.Cys338Tyr)
n.353G>A
c.292G>A (p.Ala98Thr)
c.788G>A (p.Cys263Tyr)
c.590G>A (p.Cys197Tyr)
 gnomAD v4
3g.120633323A=CA1397090775HGDc.1012T= (p.Cys338=)
n.352T=
c.291T= (p.Thr97=)
c.787T= (p.Cys263=)
c.589T= (p.Cys197=)
3g.120633323A>CCA81778049HGDc.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
3g.120633323A>GCA354073032HGDc.1012T>C (p.Cys338Arg)
n.352T>C
c.291T>C (p.Thr97=)
c.787T>C (p.Cys263Arg)
c.589T>C (p.Cys197Arg)
3g.120633323A>TCA354073031HGDc.1012T>A (p.Cys338Ser)
n.352T>A
c.291T>A (p.Thr97=)
c.787T>A (p.Cys263Ser)
c.589T>A (p.Cys197Ser)
 gnomAD v4
3g.120633324G>ACA435226397HGDc.1011C>T (p.Asn337=)
n.351C>T
c.290C>T (p.Thr97Ile)
c.786C>T (p.Asn262=)
c.588C>T (p.Asn196=)
3g.120633324G>CCA354073033HGDc.1011C>G (p.Asn337Lys)
n.351C>G
c.290C>G (p.Thr97Ser)
c.786C>G (p.Asn262Lys)
c.588C>G (p.Asn196Lys)
3g.120633324G>TCA354073034HGDc.1011C>A (p.Asn337Lys)
n.351C>A
c.290C>A (p.Thr97Asn)
c.786C>A (p.Asn262Lys)
c.588C>A (p.Asn196Lys)
3g.120633325T>ACA354073035HGDc.1010A>T (p.Asn337Ile)
n.350A>T
c.289A>T (p.Thr97Ser)
c.785A>T (p.Asn262Ile)
c.587A>T (p.Asn196Ile)
3g.120633325T>CCA354073036HGDc.1010A>G (p.Asn337Ser)
n.350A>G
c.289A>G (p.Thr97Ala)
c.785A>G (p.Asn262Ser)
c.587A>G (p.Asn196Ser)
3g.120633325T>GCA354073037HGDc.1010A>C (p.Asn337Thr)
n.350A>C
c.289A>C (p.Thr97Pro)
c.785A>C (p.Asn262Thr)
c.587A>C (p.Asn196Thr)
3g.120633326T>ACA354073038HGDc.1009A>T (p.Asn337Tyr)
n.349A>T
c.288A>T (p.Gly96=)
c.784A>T (p.Asn262Tyr)
c.586A>T (p.Asn196Tyr)
3g.120633326T>CCA354073039HGDc.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
3g.120633326T>GCA354073040HGDc.1009A>C (p.Asn337His)
n.349A>C
c.288A>C (p.Gly96=)
c.784A>C (p.Asn262His)
c.586A>C (p.Asn196His)
3g.120633326T=CA1397090776HGDc.1009A= (p.Asn337=)
n.349A=
c.288A= (p.Gly96=)
c.784A= (p.Asn262=)
c.586A= (p.Asn196=)
3g.120633327C>ACA354073041HGDc.1008G>T (p.Arg336Ser)
n.348G>T
c.287G>T (p.Gly96Val)
c.783G>T (p.Arg261Ser)
c.585G>T (p.Arg195Ser)
3g.120633327C>GCA354073042HGDc.1008G>C (p.Arg336Ser)
n.348G>C
c.287G>C (p.Gly96Ala)
c.783G>C (p.Arg261Ser)
c.585G>C (p.Arg195Ser)
3g.120633327C>TCA435226427HGDc.1008G>A (p.Arg336=)
n.348G>A
c.287G>A (p.Gly96Glu)
c.783G>A (p.Arg261=)
c.585G>A (p.Arg195=)
3g.120633329dupCA81778051HGDc.1008dup
n.348dup
c.287dup
c.783dup
c.585dup
 ClinVar dbSNP
3g.120633328C>ACA354073043HGDc.1007G>T (p.Arg336Met)
n.347G>T
c.286G>T (p.Gly96Ter)
c.782G>T (p.Arg261Met)
c.584G>T (p.Arg195Met)
3g.120633328C>GCA354073044HGDc.1007G>C (p.Arg336Thr)
n.347G>C
c.286G>C (p.Gly96Arg)
c.782G>C (p.Arg261Thr)
c.584G>C (p.Arg195Thr)
 ClinVar
3g.120633328C>TCA354073045HGDc.1007G>A (p.Arg336Lys)
n.347G>A
c.286G>A (p.Gly96Arg)
c.782G>A (p.Arg261Lys)
c.584G>A (p.Arg195Lys)
 ClinVar COSMIC
3g.120633329C>ACA354073048HGDc.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)
3g.120633329C>GCA354073046HGDc.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)
3g.120633329C>TCA354073047HGDc.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)
3g.120633330T>ACA354073049HGDc.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
3g.120633330T>CCA354073050HGDc.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
3g.120633330T>GCA354073051HGDc.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)
3g.120633330T=CA1397090777HGDc.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=)
3g.120633330_120633331delinsTGCA1397090778HGDc.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)
3g.120633331G>ACA2667170812HGDc.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
3g.120633333delCA435226451HGDc.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
3g.120633332G>ACA1397090780HGDc.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
3g.120633332G=CA1397090779HGDc.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=)
3g.120633332G>TCA2667170813HGDc.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
3g.120633333G>ACA1052811618HGDc.1007-5C>T (n.1007-5C>T)
n.347-5C>T
c.565C>T
c.286-5C>T (n.286-5C>T)
c.782-5C>T (n.782-5C>T)
c.*247C>T (n.*247C>T)
c.*252C>T (n.*252C>T)
c.584-5C>T (n.584-5C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.120633333G=CA1397090781HGDc.1007-5C= (n.1007-5C=)
n.347-5C=
c.565C=
c.286-5C= (n.286-5C=)
c.782-5C= (n.782-5C=)
c.*247C= (n.*247C=)
c.*252C= (n.*252C=)
c.584-5C= (n.584-5C=)

Number of alleles fetched