Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219421432_219421434del | CA2580616706 | DES | n.590_592del n.504_506del c.1116_1118del (p.Glu373del) n.588_590del n.511_513del c.1113_1115del (p.Glu372del) c.736-52_736-50del (n.736-52_736-50del) c.1047_1049del (p.Glu350del) c.1095_1097del (p.Glu366del) c.846_848del (p.Glu283del) | dbSNP |
2 | g.219421432G>A | CA2125243 | DES | n.590G>A n.504G>A c.1116G>A (p.Glu372=) n.588G>A n.511G>A c.1113G>A (p.Glu371=) c.736-52G>A (n.736-52G>A) c.1047G>A (p.Glu349=) c.1095G>A (p.Glu365=) c.846G>A (p.Glu282=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219421432G>C | CA350694328 | DES | n.590G>C n.504G>C c.1116G>C (p.Glu372Asp) n.588G>C n.511G>C c.1113G>C (p.Glu371Asp) c.736-52G>C (n.736-52G>C) c.1047G>C (p.Glu349Asp) c.1095G>C (p.Glu365Asp) c.846G>C (p.Glu282Asp) | |
2 | g.219421432G= | CA1329211280 | DES | n.590G= n.504G= c.1116G= (p.Glu372=) n.588G= n.511G= c.1113G= (p.Glu371=) c.736-52G= (n.736-52G=) c.1047G= (p.Glu349=) c.1095G= (p.Glu365=) c.846G= (p.Glu282=) | |
2 | g.219421432G>T | CA350694331 | DES | n.590G>T n.504G>T c.1116G>T (p.Glu372Asp) n.588G>T n.511G>T c.1113G>T (p.Glu371Asp) c.736-52G>T (n.736-52G>T) c.1047G>T (p.Glu349Asp) c.1095G>T (p.Glu365Asp) c.846G>T (p.Glu282Asp) | |
2 | g.219421433G>A | CA2125244 | DES | n.591G>A n.505G>A c.1117G>A (p.Glu373Lys) n.589G>A n.512G>A c.1114G>A (p.Glu372Lys) c.736-51G>A (n.736-51G>A) c.1048G>A (p.Glu350Lys) c.1096G>A (p.Glu366Lys) c.847G>A (p.Glu283Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219421433G>C | CA350694336 | DES | n.591G>C n.505G>C c.1117G>C (p.Glu373Gln) n.589G>C n.512G>C c.1114G>C (p.Glu372Gln) c.736-51G>C (n.736-51G>C) c.1048G>C (p.Glu350Gln) c.1096G>C (p.Glu366Gln) c.847G>C (p.Glu283Gln) | |
2 | g.219421433G= | CA1329211281 | DES | n.591G= n.505G= c.1117G= (p.Glu373=) n.589G= n.512G= c.1114G= (p.Glu372=) c.736-51G= (n.736-51G=) c.1048G= (p.Glu350=) c.1096G= (p.Glu366=) c.847G= (p.Glu283=) | |
2 | g.219421433G>T | CA350694339 | DES | n.591G>T n.505G>T c.1117G>T (p.Glu373Ter) n.589G>T n.512G>T c.1114G>T (p.Glu372Ter) c.736-51G>T (n.736-51G>T) c.1048G>T (p.Glu350Ter) c.1096G>T (p.Glu366Ter) c.847G>T (p.Glu283Ter) | |
2 | g.219421434A>C | CA350694344 | DES | n.592A>C n.506A>C c.1118A>C (p.Glu373Ala) n.590A>C n.513A>C c.1115A>C (p.Glu372Ala) c.736-50A>C (n.736-50A>C) c.1049A>C (p.Glu350Ala) c.1097A>C (p.Glu366Ala) c.848A>C (p.Glu283Ala) | gnomAD v4 |
2 | g.219421434A>G | CA350694346 | DES | n.592A>G n.506A>G c.1118A>G (p.Glu373Gly) n.590A>G n.513A>G c.1115A>G (p.Glu372Gly) c.736-50A>G (n.736-50A>G) c.1049A>G (p.Glu350Gly) c.1097A>G (p.Glu366Gly) c.848A>G (p.Glu283Gly) | |
2 | g.219421434A>T | CA350694349 | DES | n.592A>T n.506A>T c.1118A>T (p.Glu373Val) n.590A>T n.513A>T c.1115A>T (p.Glu372Val) c.736-50A>T (n.736-50A>T) c.1049A>T (p.Glu350Val) c.1097A>T (p.Glu366Val) c.848A>T (p.Glu283Val) | |
2 | g.219421435A= | CA1329211282 | DES | n.593A= n.507A= c.1119A= (p.Glu373=) n.591A= n.514A= c.1116A= (p.Glu372=) c.736-49A= (n.736-49A=) c.1050A= (p.Glu350=) c.1098A= (p.Glu366=) c.849A= (p.Glu283=) | |
2 | g.219421435A>C | CA350694351 | DES | n.593A>C n.507A>C c.1119A>C (p.Glu373Asp) n.591A>C n.514A>C c.1116A>C (p.Glu372Asp) c.736-49A>C (n.736-49A>C) c.1050A>C (p.Glu350Asp) c.1098A>C (p.Glu366Asp) c.849A>C (p.Glu283Asp) | ClinVar dbSNP |
2 | g.219421435A>G | CA431284371 | DES | n.593A>G n.507A>G c.1119A>G (p.Glu373=) n.591A>G n.514A>G c.1116A>G (p.Glu372=) c.736-49A>G (n.736-49A>G) c.1050A>G (p.Glu350=) c.1098A>G (p.Glu366=) c.849A>G (p.Glu283=) | dbSNP |
2 | g.219421435A>T | CA2125245 | DES | n.593A>T n.507A>T c.1119A>T (p.Glu373Asp) n.591A>T n.514A>T c.1116A>T (p.Glu372Asp) c.736-49A>T (n.736-49A>T) c.1050A>T (p.Glu350Asp) c.1098A>T (p.Glu366Asp) c.849A>T (p.Glu283Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219421436A>C | CA350694359 | DES | n.594A>C n.508A>C c.1120A>C (p.Ile374Leu) n.592A>C n.515A>C c.1117A>C (p.Ile373Leu) c.736-48A>C (n.736-48A>C) c.1051A>C (p.Ile351Leu) c.1099A>C (p.Ile367Leu) c.850A>C (p.Ile284Leu) | |
2 | g.219421436A>G | CA350694361 | DES | n.594A>G n.508A>G c.1120A>G (p.Ile374Val) n.592A>G n.515A>G c.1117A>G (p.Ile373Val) c.736-48A>G (n.736-48A>G) c.1051A>G (p.Ile351Val) c.1099A>G (p.Ile367Val) c.850A>G (p.Ile284Val) | |
2 | g.219421436A>T | CA350694364 | DES | n.594A>T n.508A>T c.1120A>T (p.Ile374Phe) n.592A>T n.515A>T c.1117A>T (p.Ile373Phe) c.736-48A>T (n.736-48A>T) c.1051A>T (p.Ile351Phe) c.1099A>T (p.Ile367Phe) c.850A>T (p.Ile284Phe) | |
2 | g.219421437T>A | CA350694367 | DES | n.595T>A n.509T>A c.1121T>A (p.Ile374Asn) n.593T>A n.516T>A c.1118T>A (p.Ile373Asn) c.736-47T>A (n.736-47T>A) c.1052T>A (p.Ile351Asn) c.1100T>A (p.Ile367Asn) c.851T>A (p.Ile284Asn) | |
2 | g.219421437T>C | CA350694370 | DES | n.595T>C n.509T>C c.1121T>C (p.Ile374Thr) n.593T>C n.516T>C c.1118T>C (p.Ile373Thr) c.736-47T>C (n.736-47T>C) c.1052T>C (p.Ile351Thr) c.1100T>C (p.Ile367Thr) c.851T>C (p.Ile284Thr) | COSMIC |
2 | g.219421437T>G | CA350694372 | DES | n.595T>G n.509T>G c.1121T>G (p.Ile374Ser) n.593T>G n.516T>G c.1118T>G (p.Ile373Ser) c.736-47T>G (n.736-47T>G) c.1052T>G (p.Ile351Ser) c.1100T>G (p.Ile367Ser) c.851T>G (p.Ile284Ser) | |
2 | g.219421438C>A | CA431284376 | DES | n.596C>A n.510C>A c.1122C>A (p.Ile374=) n.594C>A n.517C>A c.1119C>A (p.Ile373=) c.736-46C>A (n.736-46C>A) c.1053C>A (p.Ile351=) c.1101C>A (p.Ile367=) c.852C>A (p.Ile284=) | ClinVar dbSNP |
2 | g.219421438C= | CA1329211283 | DES | n.596C= n.510C= c.1122C= (p.Ile374=) n.594C= n.517C= c.1119C= (p.Ile373=) c.736-46C= (n.736-46C=) c.1053C= (p.Ile351=) c.1101C= (p.Ile367=) c.852C= (p.Ile284=) | |
2 | g.219421438C>G | CA350694376 | DES | n.596C>G n.510C>G c.1122C>G (p.Ile374Met) n.594C>G n.517C>G c.1119C>G (p.Ile373Met) c.736-46C>G (n.736-46C>G) c.1053C>G (p.Ile351Met) c.1101C>G (p.Ile367Met) c.852C>G (p.Ile284Met) | dbSNP |
2 | g.219421438C>T | CA431284380 | DES | n.596C>T n.510C>T c.1122C>T (p.Ile374=) n.594C>T n.517C>T c.1119C>T (p.Ile373=) c.736-46C>T (n.736-46C>T) c.1053C>T (p.Ile351=) c.1101C>T (p.Ile367=) c.852C>T (p.Ile284=) | |
2 | g.219421439C>A | CA431284383 | DES | n.597C>A n.511C>A c.1123C>A (p.Arg375=) n.595C>A n.518C>A c.1120C>A (p.Arg374=) c.736-45C>A (n.736-45C>A) c.1054C>A (p.Arg352=) c.1102C>A (p.Arg368=) c.853C>A (p.Arg285=) | |
2 | g.219421439C= | CA1329211284 | DES | n.597C= n.511C= c.1123C= (p.Arg375=) n.595C= n.518C= c.1120C= (p.Arg374=) c.736-45C= (n.736-45C=) c.1054C= (p.Arg352=) c.1102C= (p.Arg368=) c.853C= (p.Arg285=) | |
2 | g.219421439C>G | CA350694381 | DES | n.597C>G n.511C>G c.1123C>G (p.Arg375Gly) n.595C>G n.518C>G c.1120C>G (p.Arg374Gly) c.736-45C>G (n.736-45C>G) c.1054C>G (p.Arg352Gly) c.1102C>G (p.Arg368Gly) c.853C>G (p.Arg285Gly) | |
2 | g.219421439C>T | CA308275 | DES | n.597C>T n.511C>T c.1123C>T (p.Arg375Trp) n.595C>T n.518C>T c.1120C>T (p.Arg374Trp) c.736-45C>T (n.736-45C>T) c.1054C>T (p.Arg352Trp) c.1102C>T (p.Arg368Trp) c.853C>T (p.Arg285Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219421440G>A | CA65983588 | DES | n.598G>A n.512G>A c.1124G>A (p.Arg375Gln) n.596G>A n.519G>A c.1121G>A (p.Arg374Gln) c.736-44G>A (n.736-44G>A) c.1055G>A (p.Arg352Gln) c.1103G>A (p.Arg368Gln) c.854G>A (p.Arg285Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219421440G>C | CA350694390 | DES | n.598G>C n.512G>C c.1124G>C (p.Arg375Pro) n.596G>C n.519G>C c.1121G>C (p.Arg374Pro) c.736-44G>C (n.736-44G>C) c.1055G>C (p.Arg352Pro) c.1103G>C (p.Arg368Pro) c.854G>C (p.Arg285Pro) | |
2 | g.219421440G= | CA1329211285 | DES | n.598G= n.512G= c.1124G= (p.Arg375=) n.596G= n.519G= c.1121G= (p.Arg374=) c.736-44G= (n.736-44G=) c.1055G= (p.Arg352=) c.1103G= (p.Arg368=) c.854G= (p.Arg285=) | |
2 | g.219421440G>T | CA350694393 | DES | n.598G>T n.512G>T c.1124G>T (p.Arg375Leu) n.596G>T n.519G>T c.1121G>T (p.Arg374Leu) c.736-44G>T (n.736-44G>T) c.1055G>T (p.Arg352Leu) c.1103G>T (p.Arg368Leu) c.854G>T (p.Arg285Leu) | |
2 | g.219421441G>A | CA431284385 | DES | n.599G>A n.513G>A c.1125G>A (p.Arg375=) n.597G>A n.520G>A c.1122G>A (p.Arg374=) c.736-43G>A (n.736-43G>A) c.1056G>A (p.Arg352=) c.1104G>A (p.Arg368=) c.855G>A (p.Arg285=) | dbSNP COSMIC |
2 | g.219421441G>C | CA431284386 | DES | n.599G>C n.513G>C c.1125G>C (p.Arg375=) n.597G>C n.520G>C c.1122G>C (p.Arg374=) c.736-43G>C (n.736-43G>C) c.1056G>C (p.Arg352=) c.1104G>C (p.Arg368=) c.855G>C (p.Arg285=) | |
2 | g.219421441G= | CA1329211286 | DES | n.599G= n.513G= c.1125G= (p.Arg375=) n.597G= n.520G= c.1122G= (p.Arg374=) c.736-43G= (n.736-43G=) c.1056G= (p.Arg352=) c.1104G= (p.Arg368=) c.855G= (p.Arg285=) | |
2 | g.219421441G>T | CA431284388 | DES | n.599G>T n.513G>T c.1125G>T (p.Arg375=) n.597G>T n.520G>T c.1122G>T (p.Arg374=) c.736-43G>T (n.736-43G>T) c.1056G>T (p.Arg352=) c.1104G>T (p.Arg368=) c.855G>T (p.Arg285=) | |
2 | g.219421442C>A | CA350694396 | DES | n.600C>A n.514C>A c.1126C>A (p.His376Asn) n.598C>A n.521C>A c.1123C>A (p.His375Asn) c.736-42C>A (n.736-42C>A) c.1057C>A (p.His353Asn) c.1105C>A (p.His369Asn) c.856C>A (p.His286Asn) | |
2 | g.219421442C= | CA1329211287 | DES | n.600C= n.514C= c.1126C= (p.His376=) n.598C= n.521C= c.1123C= (p.His375=) c.736-42C= (n.736-42C=) c.1057C= (p.His353=) c.1105C= (p.His369=) c.856C= (p.His286=) | |
2 | g.219421442C>G | CA350694403 | DES | n.600C>G n.514C>G c.1126C>G (p.His376Asp) n.598C>G n.521C>G c.1123C>G (p.His375Asp) c.736-42C>G (n.736-42C>G) c.1057C>G (p.His353Asp) c.1105C>G (p.His369Asp) c.856C>G (p.His286Asp) | ClinVar |
2 | g.219421442C>T | CA217020 | DES | n.600C>T n.514C>T c.1126C>T (p.His376Tyr) n.598C>T n.521C>T c.1123C>T (p.His375Tyr) c.736-42C>T (n.736-42C>T) c.1057C>T (p.His353Tyr) c.1105C>T (p.His369Tyr) c.856C>T (p.His286Tyr) | ClinVar dbSNP |
2 | g.219421443A>C | CA350694407 | DES | n.601A>C n.515A>C c.1127A>C (p.His376Pro) n.599A>C n.522A>C c.1124A>C (p.His375Pro) c.736-41A>C (n.736-41A>C) c.1058A>C (p.His353Pro) c.1106A>C (p.His369Pro) c.857A>C (p.His286Pro) | |
2 | g.219421443A>G | CA350694410 | DES | n.601A>G n.515A>G c.1127A>G (p.His376Arg) n.599A>G n.522A>G c.1124A>G (p.His375Arg) c.736-41A>G (n.736-41A>G) c.1058A>G (p.His353Arg) c.1106A>G (p.His369Arg) c.857A>G (p.His286Arg) | |
2 | g.219421443A>T | CA350694413 | DES | n.601A>T n.515A>T c.1127A>T (p.His376Leu) n.599A>T n.522A>T c.1124A>T (p.His375Leu) c.736-41A>T (n.736-41A>T) c.1058A>T (p.His353Leu) c.1106A>T (p.His369Leu) c.857A>T (p.His286Leu) | |
2 | g.219421444C>A | CA350694419 | DES | n.602C>A n.516C>A c.1128C>A (p.His376Gln) n.600C>A n.523C>A c.1125C>A (p.His375Gln) c.736-40C>A (n.736-40C>A) c.1059C>A (p.His353Gln) c.1107C>A (p.His369Gln) c.858C>A (p.His286Gln) | |
2 | g.219421444C= | CA1329211288 | DES | n.602C= n.516C= c.1128C= (p.His376=) n.600C= n.523C= c.1125C= (p.His375=) c.736-40C= (n.736-40C=) c.1059C= (p.His353=) c.1107C= (p.His369=) c.858C= (p.His286=) | |
2 | g.219421444C>G | CA350694420 | DES | n.602C>G n.516C>G c.1128C>G (p.His376Gln) n.600C>G n.523C>G c.1125C>G (p.His375Gln) c.736-40C>G (n.736-40C>G) c.1059C>G (p.His353Gln) c.1107C>G (p.His369Gln) c.858C>G (p.His286Gln) | |
2 | g.219421444C>T | CA2125246 | DES | n.602C>T n.516C>T c.1128C>T (p.His376=) n.600C>T n.523C>T c.1125C>T (p.His375=) c.736-40C>T (n.736-40C>T) c.1059C>T (p.His353=) c.1107C>T (p.His369=) c.858C>T (p.His286=) | dbSNP ExAC gnomAD v2 |
2 | g.219421445C>A | CA350694427 | DES | n.603C>A n.517C>A c.1129C>A (p.Leu377Ile) n.601C>A n.524C>A c.1126C>A (p.Leu376Ile) c.736-39C>A (n.736-39C>A) c.1060C>A (p.Leu354Ile) c.1108C>A (p.Leu370Ile) c.859C>A (p.Leu287Ile) |