Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219425665A>C | CA350698259 | DES | n.765A>C n.679A>C c.1291A>C (p.Thr431Pro) n.146A>C c.1288A>C (p.Thr430Pro) c.859A>C (p.Thr287Pro) c.1222A>C (p.Thr408Pro) c.1270A>C (p.Thr424Pro) c.1021A>C (p.Thr341Pro) | |
2 | g.219425665A>G | CA350698267 | DES | n.765A>G n.679A>G c.1291A>G (p.Thr431Ala) n.146A>G c.1288A>G (p.Thr430Ala) c.859A>G (p.Thr287Ala) c.1222A>G (p.Thr408Ala) c.1270A>G (p.Thr424Ala) c.1021A>G (p.Thr341Ala) | |
2 | g.219425665A>T | CA350698263 | DES | n.765A>T n.679A>T c.1291A>T (p.Thr431Ser) n.146A>T c.1288A>T (p.Thr430Ser) c.859A>T (p.Thr287Ser) c.1222A>T (p.Thr408Ser) c.1270A>T (p.Thr424Ser) c.1021A>T (p.Thr341Ser) | |
2 | g.219425666C>A | CA350698273 | DES | n.766C>A n.680C>A c.1292C>A (p.Thr431Asn) n.147C>A c.1289C>A (p.Thr430Asn) c.860C>A (p.Thr287Asn) c.1223C>A (p.Thr408Asn) c.1271C>A (p.Thr424Asn) c.1022C>A (p.Thr341Asn) | gnomAD v4 |
2 | g.219425666C>G | CA350698276 | DES | n.766C>G n.680C>G c.1292C>G (p.Thr431Ser) n.147C>G c.1289C>G (p.Thr430Ser) c.860C>G (p.Thr287Ser) c.1223C>G (p.Thr408Ser) c.1271C>G (p.Thr424Ser) c.1022C>G (p.Thr341Ser) | |
2 | g.219425666C>T | CA350698280 | DES | n.766C>T n.680C>T c.1292C>T (p.Thr431Ile) n.147C>T c.1289C>T (p.Thr430Ile) c.860C>T (p.Thr287Ile) c.1223C>T (p.Thr408Ile) c.1271C>T (p.Thr424Ile) c.1022C>T (p.Thr341Ile) | |
2 | g.219425667C>A | CA431285562 | DES | n.767C>A n.681C>A c.1293C>A (p.Thr431=) n.148C>A c.1290C>A (p.Thr430=) c.861C>A (p.Thr287=) c.1224C>A (p.Thr408=) c.1272C>A (p.Thr424=) c.1023C>A (p.Thr341=) | gnomAD v4 |
2 | g.219425667C>G | CA431285560 | DES | n.767C>G n.681C>G c.1293C>G (p.Thr431=) n.148C>G c.1290C>G (p.Thr430=) c.861C>G (p.Thr287=) c.1224C>G (p.Thr408=) c.1272C>G (p.Thr424=) c.1023C>G (p.Thr341=) | |
2 | g.219425667C>T | CA431285561 | DES | n.767C>T n.681C>T c.1293C>T (p.Thr431=) n.148C>T c.1290C>T (p.Thr430=) c.861C>T (p.Thr287=) c.1224C>T (p.Thr408=) c.1272C>T (p.Thr424=) c.1023C>T (p.Thr341=) | ClinVar dbSNP gnomAD v4 |
2 | g.219425668A>C | CA350698285 | DES | n.768A>C n.682A>C c.1294A>C (p.Ser432Arg) n.149A>C c.1291A>C (p.Ser431Arg) c.862A>C (p.Ser288Arg) c.1225A>C (p.Ser409Arg) c.1273A>C (p.Ser425Arg) c.1024A>C (p.Ser342Arg) | |
2 | g.219425668A>G | CA350698288 | DES | n.768A>G n.682A>G c.1294A>G (p.Ser432Gly) n.149A>G c.1291A>G (p.Ser431Gly) c.862A>G (p.Ser288Gly) c.1225A>G (p.Ser409Gly) c.1273A>G (p.Ser425Gly) c.1024A>G (p.Ser342Gly) | gnomAD v4 |
2 | g.219425668A>T | CA350698291 | DES | n.768A>T n.682A>T c.1294A>T (p.Ser432Cys) n.149A>T c.1291A>T (p.Ser431Cys) c.862A>T (p.Ser288Cys) c.1225A>T (p.Ser409Cys) c.1273A>T (p.Ser425Cys) c.1024A>T (p.Ser342Cys) | |
2 | g.219425669G>A | CA350698296 | DES | n.769G>A n.683G>A c.1295G>A (p.Ser432Asn) n.150G>A c.1292G>A (p.Ser431Asn) c.863G>A (p.Ser288Asn) c.1226G>A (p.Ser409Asn) c.1274G>A (p.Ser425Asn) c.1025G>A (p.Ser342Asn) | gnomAD v4 |
2 | g.219425669G>C | CA350698304 | DES | n.769G>C n.683G>C c.1295G>C (p.Ser432Thr) n.150G>C c.1292G>C (p.Ser431Thr) c.863G>C (p.Ser288Thr) c.1226G>C (p.Ser409Thr) c.1274G>C (p.Ser425Thr) c.1025G>C (p.Ser342Thr) | |
2 | g.219425669G>T | CA350698308 | DES | n.769G>T n.683G>T c.1295G>T (p.Ser432Ile) n.150G>T c.1292G>T (p.Ser431Ile) c.863G>T (p.Ser288Ile) c.1226G>T (p.Ser409Ile) c.1274G>T (p.Ser425Ile) c.1025G>T (p.Ser342Ile) | gnomAD v4 |
2 | g.219425670C>A | CA350698312 | DES | n.770C>A n.684C>A c.1296C>A (p.Ser432Arg) n.151C>A c.1293C>A (p.Ser431Arg) c.864C>A (p.Ser288Arg) c.1227C>A (p.Ser409Arg) c.1275C>A (p.Ser425Arg) c.1026C>A (p.Ser342Arg) | gnomAD v4 |
2 | g.219425670C= | CA1329213098 | DES | n.770C= n.684C= c.1296C= (p.Ser432=) n.151C= c.1293C= (p.Ser431=) c.864C= (p.Ser288=) c.1227C= (p.Ser409=) c.1275C= (p.Ser425=) c.1026C= (p.Ser342=) | |
2 | g.219425670C>G | CA350698316 | DES | n.770C>G n.684C>G c.1296C>G (p.Ser432Arg) n.151C>G c.1293C>G (p.Ser431Arg) c.864C>G (p.Ser288Arg) c.1227C>G (p.Ser409Arg) c.1275C>G (p.Ser425Arg) c.1026C>G (p.Ser342Arg) | |
2 | g.219425670C>T | CA431285563 | DES | n.770C>T n.684C>T c.1296C>T (p.Ser432=) n.151C>T c.1293C>T (p.Ser431=) c.864C>T (p.Ser288=) c.1227C>T (p.Ser409=) c.1275C>T (p.Ser425=) c.1026C>T (p.Ser342=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.219425671C>A | CA351781 | DES | n.771C>A n.685C>A c.1297C>A (p.Pro433Thr) n.152C>A c.1294C>A (p.Pro432Thr) c.865C>A (p.Pro289Thr) c.1228C>A (p.Pro410Thr) c.1276C>A (p.Pro426Thr) c.1027C>A (p.Pro343Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.219425671C= | CA1329213099 | DES | n.771C= n.685C= c.1297C= (p.Pro433=) n.152C= c.1294C= (p.Pro432=) c.865C= (p.Pro289=) c.1228C= (p.Pro410=) c.1276C= (p.Pro426=) c.1027C= (p.Pro343=) | |
2 | g.219425671C>G | CA350698328 | DES | n.771C>G n.685C>G c.1297C>G (p.Pro433Ala) n.152C>G c.1294C>G (p.Pro432Ala) c.865C>G (p.Pro289Ala) c.1228C>G (p.Pro410Ala) c.1276C>G (p.Pro426Ala) c.1027C>G (p.Pro343Ala) | |
2 | g.219425671C>T | CA350698320 | DES | n.771C>T n.685C>T c.1297C>T (p.Pro433Ser) n.152C>T c.1294C>T (p.Pro432Ser) c.865C>T (p.Pro289Ser) c.1228C>T (p.Pro410Ser) c.1276C>T (p.Pro426Ser) c.1027C>T (p.Pro343Ser) | ClinVar |
2 | g.219425672C>A | CA350698338 | DES | n.772C>A n.686C>A c.1298C>A (p.Pro433His) n.153C>A c.1295C>A (p.Pro432His) c.866C>A (p.Pro289His) c.1229C>A (p.Pro410His) c.1277C>A (p.Pro426His) c.1028C>A (p.Pro343His) | gnomAD v4 COSMIC |
2 | g.219425672C>G | CA350698332 | DES | n.772C>G n.686C>G c.1298C>G (p.Pro433Arg) n.153C>G c.1295C>G (p.Pro432Arg) c.866C>G (p.Pro289Arg) c.1229C>G (p.Pro410Arg) c.1277C>G (p.Pro426Arg) c.1028C>G (p.Pro343Arg) | |
2 | g.219425672C>T | CA350698335 | DES | n.772C>T n.686C>T c.1298C>T (p.Pro433Leu) n.153C>T c.1295C>T (p.Pro432Leu) c.866C>T (p.Pro289Leu) c.1229C>T (p.Pro410Leu) c.1277C>T (p.Pro426Leu) c.1028C>T (p.Pro343Leu) | ClinVar |
2 | g.219425673T>A | CA431285566 | DES | n.773T>A n.687T>A c.1299T>A (p.Pro433=) n.154T>A c.1296T>A (p.Pro432=) c.867T>A (p.Pro289=) c.1230T>A (p.Pro410=) c.1278T>A (p.Pro426=) c.1029T>A (p.Pro343=) | |
2 | g.219425673T>C | CA431285564 | DES | n.773T>C n.687T>C c.1299T>C (p.Pro433=) n.154T>C c.1296T>C (p.Pro432=) c.867T>C (p.Pro289=) c.1230T>C (p.Pro410=) c.1278T>C (p.Pro426=) c.1029T>C (p.Pro343=) | |
2 | g.219425673T>G | CA431285565 | DES | n.773T>G n.687T>G c.1299T>G (p.Pro433=) n.154T>G c.1296T>G (p.Pro432=) c.867T>G (p.Pro289=) c.1230T>G (p.Pro410=) c.1278T>G (p.Pro426=) c.1029T>G (p.Pro343=) | |
2 | g.219425674G>A | CA65986902 | DES | n.774G>A n.688G>A c.1300G>A (p.Glu434Lys) n.155G>A c.1297G>A (p.Glu433Lys) c.868G>A (p.Glu290Lys) c.1231G>A (p.Glu411Lys) c.1279G>A (p.Glu427Lys) c.1030G>A (p.Glu344Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219425674G>C | CA350698344 | DES | n.774G>C n.688G>C c.1300G>C (p.Glu434Gln) n.155G>C c.1297G>C (p.Glu433Gln) c.868G>C (p.Glu290Gln) c.1231G>C (p.Glu411Gln) c.1279G>C (p.Glu427Gln) c.1030G>C (p.Glu344Gln) | |
2 | g.219425674G= | CA1329213100 | DES | n.774G= n.688G= c.1300G= (p.Glu434=) n.155G= c.1297G= (p.Glu433=) c.868G= (p.Glu290=) c.1231G= (p.Glu411=) c.1279G= (p.Glu427=) c.1030G= (p.Glu344=) | |
2 | g.219425674G>T | CA350698346 | DES | n.774G>T n.688G>T c.1300G>T (p.Glu434Ter) n.155G>T c.1297G>T (p.Glu433Ter) c.868G>T (p.Glu290Ter) c.1231G>T (p.Glu411Ter) c.1279G>T (p.Glu427Ter) c.1030G>T (p.Glu344Ter) | gnomAD v4 |
2 | g.219425675A= | CA1329213101 | DES | n.775A= n.689A= c.1301A= (p.Glu434=) n.156A= c.1298A= (p.Glu433=) c.869A= (p.Glu290=) c.1232A= (p.Glu411=) c.1280A= (p.Glu427=) c.1031A= (p.Glu344=) | |
2 | g.219425675A>C | CA350698349 | DES | n.775A>C n.689A>C c.1301A>C (p.Glu434Ala) n.156A>C c.1298A>C (p.Glu433Ala) c.869A>C (p.Glu290Ala) c.1232A>C (p.Glu411Ala) c.1280A>C (p.Glu427Ala) c.1031A>C (p.Glu344Ala) | |
2 | g.219425675A>G | CA2125301 | DES | n.775A>G n.689A>G c.1301A>G (p.Glu434Gly) n.156A>G c.1298A>G (p.Glu433Gly) c.869A>G (p.Glu290Gly) c.1232A>G (p.Glu411Gly) c.1280A>G (p.Glu427Gly) c.1031A>G (p.Glu344Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219425675A>T | CA350698354 | DES | n.775A>T n.689A>T c.1301A>T (p.Glu434Val) n.156A>T c.1298A>T (p.Glu433Val) c.869A>T (p.Glu290Val) c.1232A>T (p.Glu411Val) c.1280A>T (p.Glu427Val) c.1031A>T (p.Glu344Val) | |
2 | g.219425676G>A | CA431285567 | DES | n.776G>A n.690G>A c.1302G>A (p.Glu434=) n.157G>A c.1299G>A (p.Glu433=) c.870G>A (p.Glu290=) c.1233G>A (p.Glu411=) c.1281G>A (p.Glu427=) c.1032G>A (p.Glu344=) | ClinVar dbSNP gnomAD v4 |
2 | g.219425676G>C | CA350698359 | DES | n.776G>C n.690G>C c.1302G>C (p.Glu434Asp) n.157G>C c.1299G>C (p.Glu433Asp) c.870G>C (p.Glu290Asp) c.1233G>C (p.Glu411Asp) c.1281G>C (p.Glu427Asp) c.1032G>C (p.Glu344Asp) | |
2 | g.219425676G= | CA1329213102 | DES | n.776G= n.690G= c.1302G= (p.Glu434=) n.157G= c.1299G= (p.Glu433=) c.870G= (p.Glu290=) c.1233G= (p.Glu411=) c.1281G= (p.Glu427=) c.1032G= (p.Glu344=) | |
2 | g.219425676G>T | CA350698362 | DES | n.776G>T n.690G>T c.1302G>T (p.Glu434Asp) n.157G>T c.1299G>T (p.Glu433Asp) c.870G>T (p.Glu290Asp) c.1233G>T (p.Glu411Asp) c.1281G>T (p.Glu427Asp) c.1032G>T (p.Glu344Asp) | gnomAD v4 |
2 | g.219425677C>A | CA350698366 | DES | n.777C>A n.691C>A c.1303C>A (p.Gln435Lys) n.158C>A c.1300C>A (p.Gln434Lys) c.871C>A (p.Gln291Lys) c.1234C>A (p.Gln412Lys) c.1282C>A (p.Gln428Lys) c.1033C>A (p.Gln345Lys) | ClinVar gnomAD v4 |
2 | g.219425677C>G | CA350698371 | DES | n.777C>G n.691C>G c.1303C>G (p.Gln435Glu) n.158C>G c.1300C>G (p.Gln434Glu) c.871C>G (p.Gln291Glu) c.1234C>G (p.Gln412Glu) c.1282C>G (p.Gln428Glu) c.1033C>G (p.Gln345Glu) | ClinVar |
2 | g.219425677C>T | CA350698373 | DES | n.777C>T n.691C>T c.1303C>T (p.Gln435Ter) n.158C>T c.1300C>T (p.Gln434Ter) c.871C>T (p.Gln291Ter) c.1234C>T (p.Gln412Ter) c.1282C>T (p.Gln428Ter) c.1033C>T (p.Gln345Ter) | gnomAD v4 |
2 | g.219425678A>C | CA350698381 | DES | n.778A>C n.692A>C c.1304A>C (p.Gln435Pro) n.159A>C c.1301A>C (p.Gln434Pro) c.872A>C (p.Gln291Pro) c.1235A>C (p.Gln412Pro) c.1283A>C (p.Gln428Pro) c.1034A>C (p.Gln345Pro) | |
2 | g.219425678A>G | CA350698377 | DES | n.778A>G n.692A>G c.1304A>G (p.Gln435Arg) n.159A>G c.1301A>G (p.Gln434Arg) c.872A>G (p.Gln291Arg) c.1235A>G (p.Gln412Arg) c.1283A>G (p.Gln428Arg) c.1034A>G (p.Gln345Arg) | |
2 | g.219425678A>T | CA350698379 | DES | n.778A>T n.692A>T c.1304A>T (p.Gln435Leu) n.159A>T c.1301A>T (p.Gln434Leu) c.872A>T (p.Gln291Leu) c.1235A>T (p.Gln412Leu) c.1283A>T (p.Gln428Leu) c.1034A>T (p.Gln345Leu) | |
2 | g.219425680del | CA2825001089 | DES | n.780del n.694del c.1306del (p.Arg436GlyfsTer11) n.161del c.1303del (p.Arg435GlyfsTer11) c.874del (p.Arg292GlyfsTer11) c.1237del (p.Arg413GlyfsTer11) c.1285del (p.Arg429GlyfsTer11) c.1036del (p.Arg346GlyfsTer11) | ClinVar |
2 | g.219425679A>C | CA350698385 | DES | n.779A>C n.693A>C c.1305A>C (p.Gln435His) n.160A>C c.1302A>C (p.Gln434His) c.873A>C (p.Gln291His) c.1236A>C (p.Gln412His) c.1284A>C (p.Gln428His) c.1035A>C (p.Gln345His) | |
2 | g.219425679A>G | CA431285568 | DES | n.779A>G n.693A>G c.1305A>G (p.Gln435=) n.160A>G c.1302A>G (p.Gln434=) c.873A>G (p.Gln291=) c.1236A>G (p.Gln412=) c.1284A>G (p.Gln428=) c.1035A>G (p.Gln345=) | |
2 | g.219425679A>T | CA350698388 | DES | n.779A>T n.693A>T c.1305A>T (p.Gln435His) n.160A>T c.1302A>T (p.Gln434His) c.873A>T (p.Gln291His) c.1236A>T (p.Gln412His) c.1284A>T (p.Gln428His) c.1035A>T (p.Gln345His) | |
2 | g.219425680A>C | CA431285569 | DES | n.780A>C n.694A>C c.1306A>C (p.Arg436=) n.161A>C c.1303A>C (p.Arg435=) c.874A>C (p.Arg292=) c.1237A>C (p.Arg413=) c.1285A>C (p.Arg429=) c.1036A>C (p.Arg346=) | |
2 | g.219425680A>G | CA350698392 | DES | n.780A>G n.694A>G c.1306A>G (p.Arg436Gly) n.161A>G c.1303A>G (p.Arg435Gly) c.874A>G (p.Arg292Gly) c.1237A>G (p.Arg413Gly) c.1285A>G (p.Arg429Gly) c.1036A>G (p.Arg346Gly) | |
2 | g.219425680A>T | CA350698395 | DES | n.780A>T n.694A>T c.1306A>T (p.Arg436Trp) n.161A>T c.1303A>T (p.Arg435Trp) c.874A>T (p.Arg292Trp) c.1237A>T (p.Arg413Trp) c.1285A>T (p.Arg429Trp) c.1036A>T (p.Arg346Trp) | |
2 | g.219425681G>A | CA350698402 | DES | n.781G>A n.695G>A c.1307G>A (p.Arg436Lys) n.162G>A c.1304G>A (p.Arg435Lys) c.875G>A (p.Arg292Lys) c.1238G>A (p.Arg413Lys) c.1286G>A (p.Arg429Lys) c.1037G>A (p.Arg346Lys) | gnomAD v4 |
2 | g.219425681G>C | CA350698404 | DES | n.781G>C n.695G>C c.1307G>C (p.Arg436Thr) n.162G>C c.1304G>C (p.Arg435Thr) c.875G>C (p.Arg292Thr) c.1238G>C (p.Arg413Thr) c.1286G>C (p.Arg429Thr) c.1037G>C (p.Arg346Thr) | |
2 | g.219425681G>T | CA350698407 | DES | n.781G>T n.695G>T c.1307G>T (p.Arg436Met) n.162G>T c.1304G>T (p.Arg435Met) c.875G>T (p.Arg292Met) c.1238G>T (p.Arg413Met) c.1286G>T (p.Arg429Met) c.1037G>T (p.Arg346Met) | gnomAD v4 |
2 | g.219425684del | CA2586971386 | DES | n.784del n.698del c.1310del (p.Gly437ValfsTer10) n.165del c.1307del (p.Gly436ValfsTer10) c.878del (p.Gly293ValfsTer10) c.1241del (p.Gly414ValfsTer10) c.1289del (p.Gly430ValfsTer10) c.1040del (p.Gly347ValfsTer10) | |
2 | g.219425682G>A | CA431285570 | DES | n.782G>A n.696G>A c.1308G>A (p.Arg436=) n.163G>A c.1305G>A (p.Arg435=) c.876G>A (p.Arg292=) c.1239G>A (p.Arg413=) c.1287G>A (p.Arg429=) c.1038G>A (p.Arg346=) | ClinVar gnomAD v4 |
2 | g.219425682G>C | CA65986916 | DES | n.782G>C n.696G>C c.1308G>C (p.Arg436Ser) n.163G>C c.1305G>C (p.Arg435Ser) c.876G>C (p.Arg292Ser) c.1239G>C (p.Arg413Ser) c.1287G>C (p.Arg429Ser) c.1038G>C (p.Arg346Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219425682G= | CA1329213103 | DES | n.782G= n.696G= c.1308G= (p.Arg436=) n.163G= c.1305G= (p.Arg435=) c.876G= (p.Arg292=) c.1239G= (p.Arg413=) c.1287G= (p.Arg429=) c.1038G= (p.Arg346=) | |
2 | g.219425682G>T | CA350698409 | DES | n.782G>T n.696G>T c.1308G>T (p.Arg436Ser) n.163G>T c.1305G>T (p.Arg435Ser) c.876G>T (p.Arg292Ser) c.1239G>T (p.Arg413Ser) c.1287G>T (p.Arg429Ser) c.1038G>T (p.Arg346Ser) | gnomAD v4 |
2 | g.219425683G>A | CA65986923 | DES | n.783G>A n.697G>A c.1309G>A (p.Gly437Ser) n.164G>A c.1306G>A (p.Gly436Ser) c.877G>A (p.Gly293Ser) c.1240G>A (p.Gly414Ser) c.1288G>A (p.Gly430Ser) c.1039G>A (p.Gly347Ser) | dbSNP |
2 | g.219425683G>C | CA350698411 | DES | n.783G>C n.697G>C c.1309G>C (p.Gly437Arg) n.164G>C c.1306G>C (p.Gly436Arg) c.877G>C (p.Gly293Arg) c.1240G>C (p.Gly414Arg) c.1288G>C (p.Gly430Arg) c.1039G>C (p.Gly347Arg) | |
2 | g.219425683G= | CA1329213104 | DES | n.783G= n.697G= c.1309G= (p.Gly437=) n.164G= c.1306G= (p.Gly436=) c.877G= (p.Gly293=) c.1240G= (p.Gly414=) c.1288G= (p.Gly430=) c.1039G= (p.Gly347=) | |
2 | g.219425683G>T | CA350698412 | DES | n.783G>T n.697G>T c.1309G>T (p.Gly437Cys) n.164G>T c.1306G>T (p.Gly436Cys) c.877G>T (p.Gly293Cys) c.1240G>T (p.Gly414Cys) c.1288G>T (p.Gly430Cys) c.1039G>T (p.Gly347Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219425684G>A | CA10581952 | DES | n.784G>A n.698G>A c.1310G>A (p.Gly437Asp) n.165G>A c.1307G>A (p.Gly436Asp) c.878G>A (p.Gly293Asp) c.1241G>A (p.Gly414Asp) c.1289G>A (p.Gly430Asp) c.1040G>A (p.Gly347Asp) | ClinVar dbSNP gnomAD v2 |
2 | g.219425684G>C | CA350698420 | DES | n.784G>C n.698G>C c.1310G>C (p.Gly437Ala) n.165G>C c.1307G>C (p.Gly436Ala) c.878G>C (p.Gly293Ala) c.1241G>C (p.Gly414Ala) c.1289G>C (p.Gly430Ala) c.1040G>C (p.Gly347Ala) | |
2 | g.219425684G= | CA1329213105 | DES | n.784G= n.698G= c.1310G= (p.Gly437=) n.165G= c.1307G= (p.Gly436=) c.878G= (p.Gly293=) c.1241G= (p.Gly414=) c.1289G= (p.Gly430=) c.1040G= (p.Gly347=) | |
2 | g.219425684G>T | CA350698416 | DES | n.784G>T n.698G>T c.1310G>T (p.Gly437Val) n.165G>T c.1307G>T (p.Gly436Val) c.878G>T (p.Gly293Val) c.1241G>T (p.Gly414Val) c.1289G>T (p.Gly430Val) c.1040G>T (p.Gly347Val) | |
2 | g.219425685T>A | CA431285571 | DES | n.785T>A n.699T>A c.1311T>A (p.Gly437=) n.166T>A c.1308T>A (p.Gly436=) c.879T>A (p.Gly293=) c.1242T>A (p.Gly414=) c.1290T>A (p.Gly430=) c.1041T>A (p.Gly347=) | |
2 | g.219425685T>C | CA431285572 | DES | n.785T>C n.699T>C c.1311T>C (p.Gly437=) n.166T>C c.1308T>C (p.Gly436=) c.879T>C (p.Gly293=) c.1242T>C (p.Gly414=) c.1290T>C (p.Gly430=) c.1041T>C (p.Gly347=) | dbSNP |
2 | g.219425685T>G | CA431285573 | DES | n.785T>G n.699T>G c.1311T>G (p.Gly437=) n.166T>G c.1308T>G (p.Gly436=) c.879T>G (p.Gly293=) c.1242T>G (p.Gly414=) c.1290T>G (p.Gly430=) c.1041T>G (p.Gly347=) | |
2 | g.219425685T= | CA1329213106 | DES | n.785T= n.699T= c.1311T= (p.Gly437=) n.166T= c.1308T= (p.Gly436=) c.879T= (p.Gly293=) c.1242T= (p.Gly414=) c.1290T= (p.Gly430=) c.1041T= (p.Gly347=) | |
2 | g.219425686T>A | CA350698427 | DES | n.786T>A n.700T>A c.1312T>A (p.Ser438Thr) n.167T>A c.1309T>A (p.Ser437Thr) c.880T>A (p.Ser294Thr) c.1243T>A (p.Ser415Thr) c.1291T>A (p.Ser431Thr) c.1042T>A (p.Ser348Thr) | |
2 | g.219425686T>C | CA350698430 | DES | n.786T>C n.700T>C c.1312T>C (p.Ser438Pro) n.167T>C c.1309T>C (p.Ser437Pro) c.880T>C (p.Ser294Pro) c.1243T>C (p.Ser415Pro) c.1291T>C (p.Ser431Pro) c.1042T>C (p.Ser348Pro) | gnomAD v4 |
2 | g.219425686T>G | CA350698434 | DES | n.786T>G n.700T>G c.1312T>G (p.Ser438Ala) n.167T>G c.1309T>G (p.Ser437Ala) c.880T>G (p.Ser294Ala) c.1243T>G (p.Ser415Ala) c.1291T>G (p.Ser431Ala) c.1042T>G (p.Ser348Ala) | ClinVar dbSNP |
2 | g.219425686T= | CA1329213107 | DES | n.786T= n.700T= c.1312T= (p.Ser438=) n.167T= c.1309T= (p.Ser437=) c.880T= (p.Ser294=) c.1243T= (p.Ser415=) c.1291T= (p.Ser431=) c.1042T= (p.Ser348=) | |
2 | g.219425687C>A | CA350698438 | DES | n.787C>A n.701C>A c.1313C>A (p.Ser438Tyr) n.168C>A c.1310C>A (p.Ser437Tyr) c.881C>A (p.Ser294Tyr) c.1244C>A (p.Ser415Tyr) c.1292C>A (p.Ser431Tyr) c.1043C>A (p.Ser348Tyr) | ClinVar gnomAD v4 |
2 | g.219425687C= | CA1329213108 | DES | n.787C= n.701C= c.1313C= (p.Ser438=) n.168C= c.1310C= (p.Ser437=) c.881C= (p.Ser294=) c.1244C= (p.Ser415=) c.1292C= (p.Ser431=) c.1043C= (p.Ser348=) | |
2 | g.219425687C>G | CA350698441 | DES | n.787C>G n.701C>G c.1313C>G (p.Ser438Cys) n.168C>G c.1310C>G (p.Ser437Cys) c.881C>G (p.Ser294Cys) c.1244C>G (p.Ser415Cys) c.1292C>G (p.Ser431Cys) c.1043C>G (p.Ser348Cys) | |
2 | g.219425687C>T | CA350698443 | DES | n.787C>T n.701C>T c.1313C>T (p.Ser438Phe) n.168C>T c.1310C>T (p.Ser437Phe) c.881C>T (p.Ser294Phe) c.1244C>T (p.Ser415Phe) c.1292C>T (p.Ser431Phe) c.1043C>T (p.Ser348Phe) | dbSNP gnomAD v4 |
2 | g.219425688T>A | CA431285574 | DES | n.788T>A n.702T>A c.1314T>A (p.Ser438=) n.169T>A c.1311T>A (p.Ser437=) c.882T>A (p.Ser294=) c.1245T>A (p.Ser415=) c.1293T>A (p.Ser431=) c.1044T>A (p.Ser348=) | |
2 | g.219425688T>C | CA431285575 | DES | n.788T>C n.702T>C c.1314T>C (p.Ser438=) n.169T>C c.1311T>C (p.Ser437=) c.882T>C (p.Ser294=) c.1245T>C (p.Ser415=) c.1293T>C (p.Ser431=) c.1044T>C (p.Ser348=) | dbSNP gnomAD v4 |
2 | g.219425688T>G | CA431285576 | DES | n.788T>G n.702T>G c.1314T>G (p.Ser438=) n.169T>G c.1311T>G (p.Ser437=) c.882T>G (p.Ser294=) c.1245T>G (p.Ser415=) c.1293T>G (p.Ser431=) c.1044T>G (p.Ser348=) | |
2 | g.219425688T= | CA1329213109 | DES | n.788T= n.702T= c.1314T= (p.Ser438=) n.169T= c.1311T= (p.Ser437=) c.882T= (p.Ser294=) c.1245T= (p.Ser415=) c.1293T= (p.Ser431=) c.1044T= (p.Ser348=) | |
2 | g.219425689G>A | CA350698453 | DES | n.789G>A n.703G>A c.1315G>A (p.Glu439Lys) n.170G>A c.1312G>A (p.Glu438Lys) c.883G>A (p.Glu295Lys) c.1246G>A (p.Glu416Lys) c.1294G>A (p.Glu432Lys) c.1045G>A (p.Glu349Lys) | ClinVar dbSNP |
2 | g.219425689G>C | CA350698449 | DES | n.789G>C n.703G>C c.1315G>C (p.Glu439Gln) n.170G>C c.1312G>C (p.Glu438Gln) c.883G>C (p.Glu295Gln) c.1246G>C (p.Glu416Gln) c.1294G>C (p.Glu432Gln) c.1045G>C (p.Glu349Gln) | |
2 | g.219425689G= | CA1329213110 | DES | n.789G= n.703G= c.1315G= (p.Glu439=) n.170G= c.1312G= (p.Glu438=) c.883G= (p.Glu295=) c.1246G= (p.Glu416=) c.1294G= (p.Glu432=) c.1045G= (p.Glu349=) | |
2 | g.219425689G>T | CA350698451 | DES | n.789G>T n.703G>T c.1315G>T (p.Glu439Ter) n.170G>T c.1312G>T (p.Glu438Ter) c.883G>T (p.Glu295Ter) c.1246G>T (p.Glu416Ter) c.1294G>T (p.Glu432Ter) c.1045G>T (p.Glu349Ter) | |
2 | g.219425690A>C | CA350698459 | DES | n.790A>C n.704A>C c.1316A>C (p.Glu439Ala) n.171A>C c.1313A>C (p.Glu438Ala) c.884A>C (p.Glu295Ala) c.1247A>C (p.Glu416Ala) c.1295A>C (p.Glu432Ala) c.1046A>C (p.Glu349Ala) | |
2 | g.219425690A>G | CA350698460 | DES | n.790A>G n.704A>G c.1316A>G (p.Glu439Gly) n.171A>G c.1313A>G (p.Glu438Gly) c.884A>G (p.Glu295Gly) c.1247A>G (p.Glu416Gly) c.1295A>G (p.Glu432Gly) c.1046A>G (p.Glu349Gly) | gnomAD v4 |
2 | g.219425690A>T | CA350698463 | DES | n.790A>T n.704A>T c.1316A>T (p.Glu439Val) n.171A>T c.1313A>T (p.Glu438Val) c.884A>T (p.Glu295Val) c.1247A>T (p.Glu416Val) c.1295A>T (p.Glu432Val) c.1046A>T (p.Glu349Val) | gnomAD v4 |
2 | g.219425691G>A | CA431285577 | DES | n.791G>A n.705G>A c.1317G>A (p.Glu439=) n.172G>A c.1314G>A (p.Glu438=) c.885G>A (p.Glu295=) c.1248G>A (p.Glu416=) c.1296G>A (p.Glu432=) c.1047G>A (p.Glu349=) | ClinVar dbSNP gnomAD v4 |
2 | g.219425691G>C | CA350698467 | DES | n.791G>C n.705G>C c.1317G>C (p.Glu439Asp) n.172G>C c.1314G>C (p.Glu438Asp) c.885G>C (p.Glu295Asp) c.1248G>C (p.Glu416Asp) c.1296G>C (p.Glu432Asp) c.1047G>C (p.Glu349Asp) | |
2 | g.219425691G= | CA1329213111 | DES | n.791G= n.705G= c.1317G= (p.Glu439=) n.172G= c.1314G= (p.Glu438=) c.885G= (p.Glu295=) c.1248G= (p.Glu416=) c.1296G= (p.Glu432=) c.1047G= (p.Glu349=) | |
2 | g.219425691G>T | CA350698469 | DES | n.791G>T n.705G>T c.1317G>T (p.Glu439Asp) n.172G>T c.1314G>T (p.Glu438Asp) c.885G>T (p.Glu295Asp) c.1248G>T (p.Glu416Asp) c.1296G>T (p.Glu432Asp) c.1047G>T (p.Glu349Asp) | gnomAD v4 |
2 | g.219425692G>A | CA350698471 | DES | n.792G>A n.706G>A c.1318G>A (p.Val440Ile) n.173G>A c.1315G>A (p.Val439Ile) c.886G>A (p.Val296Ile) c.1249G>A (p.Val417Ile) c.1297G>A (p.Val433Ile) c.1048G>A (p.Val350Ile) | gnomAD v4 |
2 | g.219425692G>C | CA350698475 | DES | n.792G>C n.706G>C c.1318G>C (p.Val440Leu) n.173G>C c.1315G>C (p.Val439Leu) c.886G>C (p.Val296Leu) c.1249G>C (p.Val417Leu) c.1297G>C (p.Val433Leu) c.1048G>C (p.Val350Leu) | |
2 | g.219425692G>T | CA350698473 | DES | n.792G>T n.706G>T c.1318G>T (p.Val440Phe) n.173G>T c.1315G>T (p.Val439Phe) c.886G>T (p.Val296Phe) c.1249G>T (p.Val417Phe) c.1297G>T (p.Val433Phe) c.1048G>T (p.Val350Phe) | |
2 | g.219425693T>A | CA350698477 | DES | n.793T>A n.707T>A c.1319T>A (p.Val440Asp) n.174T>A c.1316T>A (p.Val439Asp) c.887T>A (p.Val296Asp) c.1250T>A (p.Val417Asp) c.1298T>A (p.Val433Asp) c.1049T>A (p.Val350Asp) | |
2 | g.219425693T>C | CA350698479 | DES | n.793T>C n.707T>C c.1319T>C (p.Val440Ala) n.174T>C c.1316T>C (p.Val439Ala) c.887T>C (p.Val296Ala) c.1250T>C (p.Val417Ala) c.1298T>C (p.Val433Ala) c.1049T>C (p.Val350Ala) | gnomAD v4 |
2 | g.219425693T>G | CA350698482 | DES | n.793T>G n.707T>G c.1319T>G (p.Val440Gly) n.174T>G c.1316T>G (p.Val439Gly) c.887T>G (p.Val296Gly) c.1250T>G (p.Val417Gly) c.1298T>G (p.Val433Gly) c.1049T>G (p.Val350Gly) | |
2 | g.219425693_219425694insTCTGAGTT | CA2573332563 | DES | n.793_794insTCTGAGTT n.707_708insTCTGAGTT c.1319_1320insTCTGAGTT (p.His441LeufsTer9) n.174_175insTCTGAGTT c.1316_1317insTCTGAGTT (p.His440LeufsTer9) c.887_888insTCTGAGTT (p.His297LeufsTer9) c.1250_1251insTCTGAGTT (p.His418LeufsTer9) c.1298_1299insTCTGAGTT (p.His434LeufsTer9) c.1049_1050insTCTGAGTT (p.His351LeufsTer9) | |
2 | g.219425694C>A | CA431285579 | DES | n.794C>A n.708C>A c.1320C>A (p.Val440=) n.175C>A c.1317C>A (p.Val439=) c.888C>A (p.Val296=) c.1251C>A (p.Val417=) c.1299C>A (p.Val433=) c.1050C>A (p.Val350=) | gnomAD v4 |
2 | g.219425694C>G | CA431285578 | DES | n.794C>G n.708C>G c.1320C>G (p.Val440=) n.175C>G c.1317C>G (p.Val439=) c.888C>G (p.Val296=) c.1251C>G (p.Val417=) c.1299C>G (p.Val433=) c.1050C>G (p.Val350=) | |
2 | g.219425694C>T | CA431285580 | DES | n.794C>T n.708C>T c.1320C>T (p.Val440=) n.175C>T c.1317C>T (p.Val439=) c.888C>T (p.Val296=) c.1251C>T (p.Val417=) c.1299C>T (p.Val433=) c.1050C>T (p.Val350=) | gnomAD v4 |
2 | g.219425695C>A | CA350698487 | DES | n.795C>A n.709C>A c.1321C>A (p.His441Asn) n.176C>A c.1318C>A (p.His440Asn) c.889C>A (p.His297Asn) c.1252C>A (p.His418Asn) c.1300C>A (p.His434Asn) c.1051C>A (p.His351Asn) | |
2 | g.219425695C>G | CA350698489 | DES | n.795C>G n.709C>G c.1321C>G (p.His441Asp) n.176C>G c.1318C>G (p.His440Asp) c.889C>G (p.His297Asp) c.1252C>G (p.His418Asp) c.1300C>G (p.His434Asp) c.1051C>G (p.His351Asp) | |
2 | g.219425695C>T | CA350698491 | DES | n.795C>T n.709C>T c.1321C>T (p.His441Tyr) n.176C>T c.1318C>T (p.His440Tyr) c.889C>T (p.His297Tyr) c.1252C>T (p.His418Tyr) c.1300C>T (p.His434Tyr) c.1051C>T (p.His351Tyr) | gnomAD v4 |
2 | g.219425696A= | CA1329213112 | DES | n.796A= n.710A= c.1322A= (p.His441=) n.177A= c.1319A= (p.His440=) c.890A= (p.His297=) c.1253A= (p.His418=) c.1301A= (p.His434=) c.1052A= (p.His351=) | |
2 | g.219425696A>C | CA350698494 | DES | n.796A>C n.710A>C c.1322A>C (p.His441Pro) n.177A>C c.1319A>C (p.His440Pro) c.890A>C (p.His297Pro) c.1253A>C (p.His418Pro) c.1301A>C (p.His434Pro) c.1052A>C (p.His351Pro) | ClinVar |
2 | g.219425696A>G | CA350698496 | DES | n.796A>G n.710A>G c.1322A>G (p.His441Arg) n.177A>G c.1319A>G (p.His440Arg) c.890A>G (p.His297Arg) c.1253A>G (p.His418Arg) c.1301A>G (p.His434Arg) c.1052A>G (p.His351Arg) | gnomAD v4 |
2 | g.219425696A>T | CA16617481 | DES | n.796A>T n.710A>T c.1322A>T (p.His441Leu) n.177A>T c.1319A>T (p.His440Leu) c.890A>T (p.His297Leu) c.1253A>T (p.His418Leu) c.1301A>T (p.His434Leu) c.1052A>T (p.His351Leu) | ClinVar dbSNP |
2 | g.219425697T>A | CA350698500 | DES | n.797T>A n.711T>A c.1323T>A (p.His441Gln) n.178T>A c.1320T>A (p.His440Gln) c.891T>A (p.His297Gln) c.1254T>A (p.His418Gln) c.1302T>A (p.His434Gln) c.1053T>A (p.His351Gln) | |
2 | g.219425697T>C | CA2125302 | DES | n.797T>C n.711T>C c.1323T>C (p.His441=) n.178T>C c.1320T>C (p.His440=) c.891T>C (p.His297=) c.1254T>C (p.His418=) c.1302T>C (p.His434=) c.1053T>C (p.His351=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219425697T>G | CA350698503 | DES | n.797T>G n.711T>G c.1323T>G (p.His441Gln) n.178T>G c.1320T>G (p.His440Gln) c.891T>G (p.His297Gln) c.1254T>G (p.His418Gln) c.1302T>G (p.His434Gln) c.1053T>G (p.His351Gln) | ClinVar dbSNP |
2 | g.219425697T= | CA1329213113 | DES | n.797T= n.711T= c.1323T= (p.His441=) n.178T= c.1320T= (p.His440=) c.891T= (p.His297=) c.1254T= (p.His418=) c.1302T= (p.His434=) c.1053T= (p.His351=) | |
2 | g.219425698A= | CA1329213114 | DES | n.798A= n.712A= c.1324A= (p.Thr442=) n.179A= c.1321A= (p.Thr441=) c.892A= (p.Thr298=) c.1255A= (p.Thr419=) c.1303A= (p.Thr435=) c.1054A= (p.Thr352=) | |
2 | g.219425698A>C | CA350698508 | DES | n.798A>C n.712A>C c.1324A>C (p.Thr442Pro) n.179A>C c.1321A>C (p.Thr441Pro) c.892A>C (p.Thr298Pro) c.1255A>C (p.Thr419Pro) c.1303A>C (p.Thr435Pro) c.1054A>C (p.Thr352Pro) | ClinVar dbSNP |
2 | g.219425698A>G | CA308325 | DES | n.798A>G n.712A>G c.1324A>G (p.Thr442Ala) n.179A>G c.1321A>G (p.Thr441Ala) c.892A>G (p.Thr298Ala) c.1255A>G (p.Thr419Ala) c.1303A>G (p.Thr435Ala) c.1054A>G (p.Thr352Ala) | ClinVar dbSNP |
2 | g.219425698A>T | CA350698506 | DES | n.798A>T n.712A>T c.1324A>T (p.Thr442Ser) n.179A>T c.1321A>T (p.Thr441Ser) c.892A>T (p.Thr298Ser) c.1255A>T (p.Thr419Ser) c.1303A>T (p.Thr435Ser) c.1054A>T (p.Thr352Ser) | |
2 | g.219425699C>A | CA350698515 | DES | n.799C>A n.713C>A c.1325C>A (p.Thr442Asn) n.180C>A c.1322C>A (p.Thr441Asn) c.893C>A (p.Thr298Asn) c.1256C>A (p.Thr419Asn) c.1304C>A (p.Thr435Asn) c.1055C>A (p.Thr352Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219425699C= | CA1329213115 | DES | n.799C= n.713C= c.1325C= (p.Thr442=) n.180C= c.1322C= (p.Thr441=) c.893C= (p.Thr298=) c.1256C= (p.Thr419=) c.1304C= (p.Thr435=) c.1055C= (p.Thr352=) | |
2 | g.219425699C>G | CA350698513 | DES | n.799C>G n.713C>G c.1325C>G (p.Thr442Ser) n.180C>G c.1322C>G (p.Thr441Ser) c.893C>G (p.Thr298Ser) c.1256C>G (p.Thr419Ser) c.1304C>G (p.Thr435Ser) c.1055C>G (p.Thr352Ser) | |
2 | g.219425699C>T | CA217036 | DES | n.799C>T n.713C>T c.1325C>T (p.Thr442Ile) n.180C>T c.1322C>T (p.Thr441Ile) c.893C>T (p.Thr298Ile) c.1256C>T (p.Thr419Ile) c.1304C>T (p.Thr435Ile) c.1055C>T (p.Thr352Ile) | ClinVar dbSNP |
2 | g.219425700C>A | CA431285581 | DES | n.800C>A n.714C>A c.1326C>A (p.Thr442=) n.181C>A c.1323C>A (p.Thr441=) c.894C>A (p.Thr298=) c.1257C>A (p.Thr419=) c.1305C>A (p.Thr435=) c.1056C>A (p.Thr352=) | gnomAD v4 |
2 | g.219425700C>G | CA431285582 | DES | n.800C>G n.714C>G c.1326C>G (p.Thr442=) n.181C>G c.1323C>G (p.Thr441=) c.894C>G (p.Thr298=) c.1257C>G (p.Thr419=) c.1305C>G (p.Thr435=) c.1056C>G (p.Thr352=) | gnomAD v4 COSMIC |
2 | g.219425700C>T | CA431285583 | DES | n.800C>T n.714C>T c.1326C>T (p.Thr442=) n.181C>T c.1323C>T (p.Thr441=) c.894C>T (p.Thr298=) c.1257C>T (p.Thr419=) c.1305C>T (p.Thr435=) c.1056C>T (p.Thr352=) | |
2 | g.219425701A>C | CA350698520 | DES | n.801A>C n.715A>C c.1327A>C (p.Lys443Gln) n.182A>C c.1324A>C (p.Lys442Gln) c.895A>C (p.Lys299Gln) c.1258A>C (p.Lys420Gln) c.1306A>C (p.Lys436Gln) c.1057A>C (p.Lys353Gln) | |
2 | g.219425701A>G | CA350698523 | DES | n.801A>G n.715A>G c.1327A>G (p.Lys443Glu) n.182A>G c.1324A>G (p.Lys442Glu) c.895A>G (p.Lys299Glu) c.1258A>G (p.Lys420Glu) c.1306A>G (p.Lys436Glu) c.1057A>G (p.Lys353Glu) | gnomAD v4 |
2 | g.219425701A>T | CA350698522 | DES | n.801A>T n.715A>T c.1327A>T (p.Lys443Ter) n.182A>T c.1324A>T (p.Lys442Ter) c.895A>T (p.Lys299Ter) c.1258A>T (p.Lys420Ter) c.1306A>T (p.Lys436Ter) c.1057A>T (p.Lys353Ter) | |
2 | g.219425702A= | CA1329213116 | DES | n.802A= n.716A= c.1328A= (p.Lys443=) n.183A= c.1325A= (p.Lys442=) c.896A= (p.Lys299=) c.1259A= (p.Lys420=) c.1307A= (p.Lys436=) c.1058A= (p.Lys353=) | |
2 | g.219425702A>C | CA350698526 | DES | n.802A>C n.716A>C c.1328A>C (p.Lys443Thr) n.183A>C c.1325A>C (p.Lys442Thr) c.896A>C (p.Lys299Thr) c.1259A>C (p.Lys420Thr) c.1307A>C (p.Lys436Thr) c.1058A>C (p.Lys353Thr) | |
2 | g.219425702A>G | CA350698530 | DES | n.802A>G n.716A>G c.1328A>G (p.Lys443Arg) n.183A>G c.1325A>G (p.Lys442Arg) c.896A>G (p.Lys299Arg) c.1259A>G (p.Lys420Arg) c.1307A>G (p.Lys436Arg) c.1058A>G (p.Lys353Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219425702A>T | CA350698534 | DES | n.802A>T n.716A>T c.1328A>T (p.Lys443Met) n.183A>T c.1325A>T (p.Lys442Met) c.896A>T (p.Lys299Met) c.1259A>T (p.Lys420Met) c.1307A>T (p.Lys436Met) c.1058A>T (p.Lys353Met) | |
2 | g.219425703G>A | CA431285584 | DES | n.803G>A n.717G>A c.1329G>A (p.Lys443=) n.184G>A c.1326G>A (p.Lys442=) c.897G>A (p.Lys299=) c.1260G>A (p.Lys420=) c.1308G>A (p.Lys436=) c.1059G>A (p.Lys353=) | dbSNP gnomAD v2 |
2 | g.219425703G>C | CA350698537 | DES | n.803G>C n.717G>C c.1329G>C (p.Lys443Asn) n.184G>C c.1326G>C (p.Lys442Asn) c.897G>C (p.Lys299Asn) c.1260G>C (p.Lys420Asn) c.1308G>C (p.Lys436Asn) c.1059G>C (p.Lys353Asn) | |
2 | g.219425703G= | CA1329213117 | DES | n.803G= n.717G= c.1329G= (p.Lys443=) n.184G= c.1326G= (p.Lys442=) c.897G= (p.Lys299=) c.1260G= (p.Lys420=) c.1308G= (p.Lys436=) c.1059G= (p.Lys353=) | |
2 | g.219425703G>T | CA350698538 | DES | n.803G>T n.717G>T c.1329G>T (p.Lys443Asn) n.184G>T c.1326G>T (p.Lys442Asn) c.897G>T (p.Lys299Asn) c.1260G>T (p.Lys420Asn) c.1308G>T (p.Lys436Asn) c.1059G>T (p.Lys353Asn) | |
2 | g.219425704A>C | CA350698544 | DES | n.804A>C n.718A>C c.1330A>C (p.Lys444Gln) n.185A>C c.1327A>C (p.Lys443Gln) c.898A>C (p.Lys300Gln) c.1261A>C (p.Lys421Gln) c.1309A>C (p.Lys437Gln) c.1060A>C (p.Lys354Gln) | |
2 | g.219425704A>G | CA350698545 | DES | n.804A>G n.718A>G c.1330A>G (p.Lys444Glu) n.185A>G c.1327A>G (p.Lys443Glu) c.898A>G (p.Lys300Glu) c.1261A>G (p.Lys421Glu) c.1309A>G (p.Lys437Glu) c.1060A>G (p.Lys354Glu) | |
2 | g.219425704A>T | CA350698548 | DES | n.804A>T n.718A>T c.1330A>T (p.Lys444Ter) n.185A>T c.1327A>T (p.Lys443Ter) c.898A>T (p.Lys300Ter) c.1261A>T (p.Lys421Ter) c.1309A>T (p.Lys437Ter) c.1060A>T (p.Lys354Ter) | |
2 | g.219425705A>C | CA350698553 | DES | n.805A>C n.719A>C c.1331A>C (p.Lys444Thr) n.186A>C c.1328A>C (p.Lys443Thr) c.899A>C (p.Lys300Thr) c.1262A>C (p.Lys421Thr) c.1310A>C (p.Lys437Thr) c.1061A>C (p.Lys354Thr) | COSMIC |
2 | g.219425705A>G | CA350698556 | DES | n.805A>G n.719A>G c.1331A>G (p.Lys444Arg) n.186A>G c.1328A>G (p.Lys443Arg) c.899A>G (p.Lys300Arg) c.1262A>G (p.Lys421Arg) c.1310A>G (p.Lys437Arg) c.1061A>G (p.Lys354Arg) | |
2 | g.219425705A>T | CA350698559 | DES | n.805A>T n.719A>T c.1331A>T (p.Lys444Met) n.186A>T c.1328A>T (p.Lys443Met) c.899A>T (p.Lys300Met) c.1262A>T (p.Lys421Met) c.1310A>T (p.Lys437Met) c.1061A>T (p.Lys354Met) | |
2 | g.219425705_219425709delinsAGACG | CA1329213118 | DES | n.805_809delinsAGACG n.719_723delinsAGACG c.1331_1335delinsAGACG (p.Lys444=) n.186_190delinsAGACG c.1328_1332delinsAGACG (p.Lys443=) c.899_903delinsAGACG (p.Lys300=) c.1262_1266delinsAGACG (p.Lys421=) c.1310_1314delinsAGACG (p.Lys437=) c.1061_1065delinsAGACG (p.Lys354=) | |
2 | g.219425706G>A | CA431285585 | DES | n.806G>A n.720G>A c.1332G>A (p.Lys444=) n.187G>A c.1329G>A (p.Lys443=) c.900G>A (p.Lys300=) c.1263G>A (p.Lys421=) c.1311G>A (p.Lys437=) c.1062G>A (p.Lys354=) | gnomAD v4 |
2 | g.219425706G>C | CA350698562 | DES | n.806G>C n.720G>C c.1332G>C (p.Lys444Asn) n.187G>C c.1329G>C (p.Lys443Asn) c.900G>C (p.Lys300Asn) c.1263G>C (p.Lys421Asn) c.1311G>C (p.Lys437Asn) c.1062G>C (p.Lys354Asn) | |
2 | g.219425706G>T | CA350698565 | DES | n.806G>T n.720G>T c.1332G>T (p.Lys444Asn) n.187G>T c.1329G>T (p.Lys443Asn) c.900G>T (p.Lys300Asn) c.1263G>T (p.Lys421Asn) c.1311G>T (p.Lys437Asn) c.1062G>T (p.Lys354Asn) | |
2 | g.219425707_219425710del | CA645369282 | DES | n.807_810del n.721_724del c.1333_1336del (p.Thr445Ter) n.188_191del c.1330_1333del (p.Thr444Ter) c.901_904del (p.Thr301Ter) c.1264_1267del (p.Thr422Ter) c.1312_1315del (p.Thr438Ter) c.1063_1066del (p.Thr355Ter) | ClinVar dbSNP |
2 | g.219425707A= | CA1329213119 | DES | n.807A= n.721A= c.1333A= (p.Thr445=) n.188A= c.1330A= (p.Thr444=) c.901A= (p.Thr301=) c.1264A= (p.Thr422=) c.1312A= (p.Thr438=) c.1063A= (p.Thr355=) | |
2 | g.219425707A>C | CA350698567 | DES | n.807A>C n.721A>C c.1333A>C (p.Thr445Pro) n.188A>C c.1330A>C (p.Thr444Pro) c.901A>C (p.Thr301Pro) c.1264A>C (p.Thr422Pro) c.1312A>C (p.Thr438Pro) c.1063A>C (p.Thr355Pro) | |
2 | g.219425707A>G | CA284676 | DES | n.807A>G n.721A>G c.1333A>G (p.Thr445Ala) n.188A>G c.1330A>G (p.Thr444Ala) c.901A>G (p.Thr301Ala) c.1264A>G (p.Thr422Ala) c.1312A>G (p.Thr438Ala) c.1063A>G (p.Thr355Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219425707A>T | CA350698569 | DES | n.807A>T n.721A>T c.1333A>T (p.Thr445Ser) n.188A>T c.1330A>T (p.Thr444Ser) c.901A>T (p.Thr301Ser) c.1264A>T (p.Thr422Ser) c.1312A>T (p.Thr438Ser) c.1063A>T (p.Thr355Ser) | |
2 | g.219425708C>A | CA350698576 | DES | n.808C>A n.722C>A c.1334C>A (p.Thr445Lys) n.189C>A c.1331C>A (p.Thr444Lys) c.902C>A (p.Thr301Lys) c.1265C>A (p.Thr422Lys) c.1313C>A (p.Thr438Lys) c.1064C>A (p.Thr355Lys) | gnomAD v4 |
2 | g.219425708C= | CA1329213120 | DES | n.808C= n.722C= c.1334C= (p.Thr445=) n.189C= c.1331C= (p.Thr444=) c.902C= (p.Thr301=) c.1265C= (p.Thr422=) c.1313C= (p.Thr438=) c.1064C= (p.Thr355=) | |
2 | g.219425708C>G | CA350698578 | DES | n.808C>G n.722C>G c.1334C>G (p.Thr445Arg) n.189C>G c.1331C>G (p.Thr444Arg) c.902C>G (p.Thr301Arg) c.1265C>G (p.Thr422Arg) c.1313C>G (p.Thr438Arg) c.1064C>G (p.Thr355Arg) | |
2 | g.219425708C>T | CA2125303 | DES | n.808C>T n.722C>T c.1334C>T (p.Thr445Met) n.189C>T c.1331C>T (p.Thr444Met) c.902C>T (p.Thr301Met) c.1265C>T (p.Thr422Met) c.1313C>T (p.Thr438Met) c.1064C>T (p.Thr355Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.219425709G>A | CA2125304 | DES | n.809G>A n.723G>A c.1335G>A (p.Thr445=) n.190G>A c.1332G>A (p.Thr444=) c.903G>A (p.Thr301=) c.1266G>A (p.Thr422=) c.1314G>A (p.Thr438=) c.1065G>A (p.Thr355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219425709G>C | CA431285586 | DES | n.809G>C n.723G>C c.1335G>C (p.Thr445=) n.190G>C c.1332G>C (p.Thr444=) c.903G>C (p.Thr301=) c.1266G>C (p.Thr422=) c.1314G>C (p.Thr438=) c.1065G>C (p.Thr355=) | |
2 | g.219425709G= | CA1329213121 | DES | n.809G= n.723G= c.1335G= (p.Thr445=) n.190G= c.1332G= (p.Thr444=) c.903G= (p.Thr301=) c.1266G= (p.Thr422=) c.1314G= (p.Thr438=) c.1065G= (p.Thr355=) | |
2 | g.219425709G>T | CA431285587 | DES | n.809G>T n.723G>T c.1335G>T (p.Thr445=) n.190G>T c.1332G>T (p.Thr444=) c.903G>T (p.Thr301=) c.1266G>T (p.Thr422=) c.1314G>T (p.Thr438=) c.1065G>T (p.Thr355=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219425710G>A | CA350698588 | DES | n.810G>A n.724G>A c.1336G>A (p.Val446Met) n.191G>A c.1333G>A (p.Val445Met) c.904G>A (p.Val302Met) c.1267G>A (p.Val423Met) c.1315G>A (p.Val439Met) c.1066G>A (p.Val356Met) | |
2 | g.219425710G>C | CA350698590 | DES | n.810G>C n.724G>C c.1336G>C (p.Val446Leu) n.191G>C c.1333G>C (p.Val445Leu) c.904G>C (p.Val302Leu) c.1267G>C (p.Val423Leu) c.1315G>C (p.Val439Leu) c.1066G>C (p.Val356Leu) | |
2 | g.219425710G>T | CA350698595 | DES | n.810G>T n.724G>T c.1336G>T (p.Val446Leu) n.191G>T c.1333G>T (p.Val445Leu) c.904G>T (p.Val302Leu) c.1267G>T (p.Val423Leu) c.1315G>T (p.Val439Leu) c.1066G>T (p.Val356Leu) | gnomAD v4 |
2 | g.219425711T>A | CA350698598 | DES | n.811T>A n.725T>A c.1337T>A (p.Val446Glu) n.192T>A c.1334T>A (p.Val445Glu) c.905T>A (p.Val302Glu) c.1268T>A (p.Val423Glu) c.1316T>A (p.Val439Glu) c.1067T>A (p.Val356Glu) | gnomAD v4 |
2 | g.219425711T>C | CA350698603 | DES | n.811T>C n.725T>C c.1337T>C (p.Val446Ala) n.192T>C c.1334T>C (p.Val445Ala) c.905T>C (p.Val302Ala) c.1268T>C (p.Val423Ala) c.1316T>C (p.Val439Ala) c.1067T>C (p.Val356Ala) | |
2 | g.219425711T>G | CA350698606 | DES | n.811T>G n.725T>G c.1337T>G (p.Val446Gly) n.192T>G c.1334T>G (p.Val445Gly) c.905T>G (p.Val302Gly) c.1268T>G (p.Val423Gly) c.1316T>G (p.Val439Gly) c.1067T>G (p.Val356Gly) | |
2 | g.219425712G>A | CA431285588 | DES | n.812G>A n.726G>A c.1338G>A (p.Val446=) n.193G>A c.1335G>A (p.Val445=) c.906G>A (p.Val302=) c.1269G>A (p.Val423=) c.1317G>A (p.Val439=) c.1068G>A (p.Val356=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219425712G>C | CA431285589 | DES | n.812G>C n.726G>C c.1338G>C (p.Val446=) n.193G>C c.1335G>C (p.Val445=) c.906G>C (p.Val302=) c.1269G>C (p.Val423=) c.1317G>C (p.Val439=) c.1068G>C (p.Val356=) | |
2 | g.219425712G= | CA1329213122 | DES | n.812G= n.726G= c.1338G= (p.Val446=) n.193G= c.1335G= (p.Val445=) c.906G= (p.Val302=) c.1269G= (p.Val423=) c.1317G= (p.Val439=) c.1068G= (p.Val356=) | |
2 | g.219425712G>T | CA431285590 | DES | n.812G>T n.726G>T c.1338G>T (p.Val446=) n.193G>T c.1335G>T (p.Val445=) c.906G>T (p.Val302=) c.1269G>T (p.Val423=) c.1317G>T (p.Val439=) c.1068G>T (p.Val356=) | gnomAD v4 |
2 | g.219425713A>C | CA350698617 | DES | n.813A>C n.727A>C c.1339A>C (p.Met447Leu) n.194A>C c.1336A>C (p.Met446Leu) c.907A>C (p.Met303Leu) c.1270A>C (p.Met424Leu) c.1318A>C (p.Met440Leu) c.1069A>C (p.Met357Leu) | |
2 | g.219425713A>G | CA350698614 | DES | n.813A>G n.727A>G c.1339A>G (p.Met447Val) n.194A>G c.1336A>G (p.Met446Val) c.907A>G (p.Met303Val) c.1270A>G (p.Met424Val) c.1318A>G (p.Met440Val) c.1069A>G (p.Met357Val) | gnomAD v4 |
2 | g.219425713A>T | CA350698611 | DES | n.813A>T n.727A>T c.1339A>T (p.Met447Leu) n.194A>T c.1336A>T (p.Met446Leu) c.907A>T (p.Met303Leu) c.1270A>T (p.Met424Leu) c.1318A>T (p.Met440Leu) c.1069A>T (p.Met357Leu) | gnomAD v4 |
2 | g.219425714del | CA2663252167 | DES | n.814del n.728del c.1340del (p.Met447ArgfsTer?) n.195del c.1337del (p.Met446ArgfsTer?) c.908del (p.Met303ArgfsTer?) c.1271del (p.Met424ArgfsTer?) c.1319del (p.Met440ArgfsTer?) c.1070del (p.Met357ArgfsTer?) | gnomAD v4 |
2 | g.219425714T>A | CA350698621 | DES | n.814T>A n.728T>A c.1340T>A (p.Met447Lys) n.195T>A c.1337T>A (p.Met446Lys) c.908T>A (p.Met303Lys) c.1271T>A (p.Met424Lys) c.1319T>A (p.Met440Lys) c.1070T>A (p.Met357Lys) | |
2 | g.219425714T>C | CA350698624 | DES | n.814T>C n.728T>C c.1340T>C (p.Met447Thr) n.195T>C c.1337T>C (p.Met446Thr) c.908T>C (p.Met303Thr) c.1271T>C (p.Met424Thr) c.1319T>C (p.Met440Thr) c.1070T>C (p.Met357Thr) | dbSNP gnomAD v4 |
2 | g.219425714T>G | CA350698627 | DES | n.814T>G n.728T>G c.1340T>G (p.Met447Arg) n.195T>G c.1337T>G (p.Met446Arg) c.908T>G (p.Met303Arg) c.1271T>G (p.Met424Arg) c.1319T>G (p.Met440Arg) c.1070T>G (p.Met357Arg) | |
2 | g.219425714T= | CA1329213123 | DES | n.814T= n.728T= c.1340T= (p.Met447=) n.195T= c.1337T= (p.Met446=) c.908T= (p.Met303=) c.1271T= (p.Met424=) c.1319T= (p.Met440=) c.1070T= (p.Met357=) | |
2 | g.219425715G>A | CA350698628 | DES | n.815G>A n.729G>A c.1341G>A (p.Met447Ile) n.196G>A c.1338G>A (p.Met446Ile) c.909G>A (p.Met303Ile) c.1272G>A (p.Met424Ile) c.1320G>A (p.Met440Ile) c.1071G>A (p.Met357Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219425715G>C | CA350698629 | DES | n.815G>C n.729G>C c.1341G>C (p.Met447Ile) n.196G>C c.1338G>C (p.Met446Ile) c.909G>C (p.Met303Ile) c.1272G>C (p.Met424Ile) c.1320G>C (p.Met440Ile) c.1071G>C (p.Met357Ile) | |
2 | g.219425715G= | CA1329213125 | DES | n.815G= n.729G= c.1341G= (p.Met447=) n.196G= c.1338G= (p.Met446=) c.909G= (p.Met303=) c.1272G= (p.Met424=) c.1320G= (p.Met440=) c.1071G= (p.Met357=) | |
2 | g.219425715G>T | CA350698630 | DES | n.815G>T n.729G>T c.1341G>T (p.Met447Ile) n.196G>T c.1338G>T (p.Met446Ile) c.909G>T (p.Met303Ile) c.1272G>T (p.Met424Ile) c.1320G>T (p.Met440Ile) c.1071G>T (p.Met357Ile) | gnomAD v4 |
2 | g.219425715_219425724delinsGATCAAGACC | CA1329213124 | DES | n.815_824delinsGATCAAGACC n.729_738delinsGATCAAGACC c.1341_1350delinsGATCAAGACC (p.Met447=) n.196_205delinsGATCAAGACC c.1338_1347delinsGATCAAGACC (p.Met446=) c.909_918delinsGATCAAGACC (p.Met303=) c.1272_1281delinsGATCAAGACC (p.Met424=) c.1320_1329delinsGATCAAGACC (p.Met440=) c.1071_1080delinsGATCAAGACC (p.Met357=) | |
2 | g.219425716A= | CA1329213126 | DES | n.816A= n.730A= c.1342A= (p.Ile448=) n.197A= c.1339A= (p.Ile447=) c.910A= (p.Ile304=) c.1273A= (p.Ile425=) c.1321A= (p.Ile441=) c.1072A= (p.Ile358=) | |
2 | g.219425716A>C | CA350698632 | DES | n.816A>C n.730A>C c.1342A>C (p.Ile448Leu) n.197A>C c.1339A>C (p.Ile447Leu) c.910A>C (p.Ile304Leu) c.1273A>C (p.Ile425Leu) c.1321A>C (p.Ile441Leu) c.1072A>C (p.Ile358Leu) | |
2 | g.219425716A>G | CA350698634 | DES | n.816A>G n.730A>G c.1342A>G (p.Ile448Val) n.197A>G c.1339A>G (p.Ile447Val) c.910A>G (p.Ile304Val) c.1273A>G (p.Ile425Val) c.1321A>G (p.Ile441Val) c.1072A>G (p.Ile358Val) | ClinVar dbSNP |
2 | g.219425716A>T | CA350698637 | DES | n.816A>T n.730A>T c.1342A>T (p.Ile448Phe) n.197A>T c.1339A>T (p.Ile447Phe) c.910A>T (p.Ile304Phe) c.1273A>T (p.Ile425Phe) c.1321A>T (p.Ile441Phe) c.1072A>T (p.Ile358Phe) | |
2 | g.219425719_219425727del | CA16617482 | DES | n.819_827del n.733_741del c.1345_1353del (p.Lys449_Ile451del) n.200_208del c.1342_1350del (p.Lys448_Ile450del) c.913_921del (p.Lys305_Ile307del) c.1276_1284del (p.Lys426_Ile428del) c.1324_1332del (p.Lys442_Ile444del) c.1075_1083del (p.Lys359_Ile361del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219425717T>A | CA350698641 | DES | n.817T>A n.731T>A c.1343T>A (p.Ile448Asn) n.198T>A c.1340T>A (p.Ile447Asn) c.911T>A (p.Ile304Asn) c.1274T>A (p.Ile425Asn) c.1322T>A (p.Ile441Asn) c.1073T>A (p.Ile358Asn) | |
2 | g.219425717T>C | CA350698646 | DES | n.817T>C n.731T>C c.1343T>C (p.Ile448Thr) n.198T>C c.1340T>C (p.Ile447Thr) c.911T>C (p.Ile304Thr) c.1274T>C (p.Ile425Thr) c.1322T>C (p.Ile441Thr) c.1073T>C (p.Ile358Thr) | |
2 | g.219425717T>G | CA350698648 | DES | n.817T>G n.731T>G c.1343T>G (p.Ile448Ser) n.198T>G c.1340T>G (p.Ile447Ser) c.911T>G (p.Ile304Ser) c.1274T>G (p.Ile425Ser) c.1322T>G (p.Ile441Ser) c.1073T>G (p.Ile358Ser) | |
2 | g.219425718C>A | CA431285592 | DES | n.818C>A n.732C>A c.1344C>A (p.Ile448=) n.199C>A c.1341C>A (p.Ile447=) c.912C>A (p.Ile304=) c.1275C>A (p.Ile425=) c.1323C>A (p.Ile441=) c.1074C>A (p.Ile358=) | gnomAD v4 |
2 | g.219425718C>G | CA350698650 | DES | n.818C>G n.732C>G c.1344C>G (p.Ile448Met) n.199C>G c.1341C>G (p.Ile447Met) c.912C>G (p.Ile304Met) c.1275C>G (p.Ile425Met) c.1323C>G (p.Ile441Met) c.1074C>G (p.Ile358Met) | gnomAD v4 |
2 | g.219425718C>T | CA431285591 | DES | n.818C>T n.732C>T c.1344C>T (p.Ile448=) n.199C>T c.1341C>T (p.Ile447=) c.912C>T (p.Ile304=) c.1275C>T (p.Ile425=) c.1323C>T (p.Ile441=) c.1074C>T (p.Ile358=) | gnomAD v4 |
2 | g.219425719A>C | CA350698662 | DES | n.819A>C n.733A>C c.1345A>C (p.Lys449Gln) n.200A>C c.1342A>C (p.Lys448Gln) c.913A>C (p.Lys305Gln) c.1276A>C (p.Lys426Gln) c.1324A>C (p.Lys442Gln) c.1075A>C (p.Lys359Gln) | |
2 | g.219425719A>G | CA350698656 | DES | n.819A>G n.733A>G c.1345A>G (p.Lys449Glu) n.200A>G c.1342A>G (p.Lys448Glu) c.913A>G (p.Lys305Glu) c.1276A>G (p.Lys426Glu) c.1324A>G (p.Lys442Glu) c.1075A>G (p.Lys359Glu) | |
2 | g.219425719A>T | CA350698659 | DES | n.819A>T n.733A>T c.1345A>T (p.Lys449Ter) n.200A>T c.1342A>T (p.Lys448Ter) c.913A>T (p.Lys305Ter) c.1276A>T (p.Lys426Ter) c.1324A>T (p.Lys442Ter) c.1075A>T (p.Lys359Ter) | |
2 | g.219425720del | CA2663252169 | DES | n.820del n.734del c.1346del (p.Lys449ArgfsTer?) n.201del c.1343del (p.Lys448ArgfsTer?) c.914del (p.Lys305ArgfsTer?) c.1277del (p.Lys426ArgfsTer?) c.1325del (p.Lys442ArgfsTer?) c.1076del (p.Lys359ArgfsTer?) | gnomAD v4 |
2 | g.219425720A= | CA1329213127 | DES | n.820A= n.734A= c.1346A= (p.Lys449=) n.201A= c.1343A= (p.Lys448=) c.914A= (p.Lys305=) c.1277A= (p.Lys426=) c.1325A= (p.Lys442=) c.1076A= (p.Lys359=) | |
2 | g.219425720A>C | CA217038 | DES | n.820A>C n.734A>C c.1346A>C (p.Lys449Thr) n.201A>C c.1343A>C (p.Lys448Thr) c.914A>C (p.Lys305Thr) c.1277A>C (p.Lys426Thr) c.1325A>C (p.Lys442Thr) c.1076A>C (p.Lys359Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.219425720A>G | CA350698669 | DES | n.820A>G n.734A>G c.1346A>G (p.Lys449Arg) n.201A>G c.1343A>G (p.Lys448Arg) c.914A>G (p.Lys305Arg) c.1277A>G (p.Lys426Arg) c.1325A>G (p.Lys442Arg) c.1076A>G (p.Lys359Arg) | |
2 | g.219425720A>T | CA350698671 | DES | n.820A>T n.734A>T c.1346A>T (p.Lys449Met) n.201A>T c.1343A>T (p.Lys448Met) c.914A>T (p.Lys305Met) c.1277A>T (p.Lys426Met) c.1325A>T (p.Lys442Met) c.1076A>T (p.Lys359Met) | |
2 | g.219425721G>A | CA431285593 | DES | n.821G>A n.735G>A c.1347G>A (p.Lys449=) n.202G>A c.1344G>A (p.Lys448=) c.915G>A (p.Lys305=) c.1278G>A (p.Lys426=) c.1326G>A (p.Lys442=) c.1077G>A (p.Lys359=) | gnomAD v4 |
2 | g.219425721G>C | CA350698675 | DES | n.821G>C n.735G>C c.1347G>C (p.Lys449Asn) n.202G>C c.1344G>C (p.Lys448Asn) c.915G>C (p.Lys305Asn) c.1278G>C (p.Lys426Asn) c.1326G>C (p.Lys442Asn) c.1077G>C (p.Lys359Asn) | |
2 | g.219425721G>T | CA350698678 | DES | n.821G>T n.735G>T c.1347G>T (p.Lys449Asn) n.202G>T c.1344G>T (p.Lys448Asn) c.915G>T (p.Lys305Asn) c.1278G>T (p.Lys426Asn) c.1326G>T (p.Lys442Asn) c.1077G>T (p.Lys359Asn) | gnomAD v4 |
2 | g.219425722A>C | CA350698683 | DES | n.822A>C n.736A>C c.1348A>C (p.Thr450Pro) n.203A>C c.1345A>C (p.Thr449Pro) c.916A>C (p.Thr306Pro) c.1279A>C (p.Thr427Pro) c.1327A>C (p.Thr443Pro) c.1078A>C (p.Thr360Pro) | |
2 | g.219425722A>G | CA350698686 | DES | n.822A>G n.736A>G c.1348A>G (p.Thr450Ala) n.203A>G c.1345A>G (p.Thr449Ala) c.916A>G (p.Thr306Ala) c.1279A>G (p.Thr427Ala) c.1327A>G (p.Thr443Ala) c.1078A>G (p.Thr360Ala) | ClinVar |
2 | g.219425722A>T | CA350698688 | DES | n.822A>T n.736A>T c.1348A>T (p.Thr450Ser) n.203A>T c.1345A>T (p.Thr449Ser) c.916A>T (p.Thr306Ser) c.1279A>T (p.Thr427Ser) c.1327A>T (p.Thr443Ser) c.1078A>T (p.Thr360Ser) | |
2 | g.219425723C>A | CA350698693 | DES | n.823C>A n.737C>A c.1349C>A (p.Thr450Asn) n.204C>A c.1346C>A (p.Thr449Asn) c.917C>A (p.Thr306Asn) c.1280C>A (p.Thr427Asn) c.1328C>A (p.Thr443Asn) c.1079C>A (p.Thr360Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219425723C= | CA1329213128 | DES | n.823C= n.737C= c.1349C= (p.Thr450=) n.204C= c.1346C= (p.Thr449=) c.917C= (p.Thr306=) c.1280C= (p.Thr427=) c.1328C= (p.Thr443=) c.1079C= (p.Thr360=) | |
2 | g.219425723C>G | CA350698695 | DES | n.823C>G n.737C>G c.1349C>G (p.Thr450Ser) n.204C>G c.1346C>G (p.Thr449Ser) c.917C>G (p.Thr306Ser) c.1280C>G (p.Thr427Ser) c.1328C>G (p.Thr443Ser) c.1079C>G (p.Thr360Ser) | |
2 | g.219425723C>T | CA350698697 | DES | n.823C>T n.737C>T c.1349C>T (p.Thr450Ile) n.204C>T c.1346C>T (p.Thr449Ile) c.917C>T (p.Thr306Ile) c.1280C>T (p.Thr427Ile) c.1328C>T (p.Thr443Ile) c.1079C>T (p.Thr360Ile) | ClinVar |
2 | g.219425724C>A | CA431285594 | DES | n.824C>A n.738C>A c.1350C>A (p.Thr450=) n.205C>A c.1347C>A (p.Thr449=) c.918C>A (p.Thr306=) c.1281C>A (p.Thr427=) c.1329C>A (p.Thr443=) c.1080C>A (p.Thr360=) | gnomAD v4 |
2 | g.219425724C= | CA1329213129 | DES | n.824C= n.738C= c.1350C= (p.Thr450=) n.205C= c.1347C= (p.Thr449=) c.918C= (p.Thr306=) c.1281C= (p.Thr427=) c.1329C= (p.Thr443=) c.1080C= (p.Thr360=) | |
2 | g.219425724C>G | CA431285595 | DES | n.824C>G n.738C>G c.1350C>G (p.Thr450=) n.205C>G c.1347C>G (p.Thr449=) c.918C>G (p.Thr306=) c.1281C>G (p.Thr427=) c.1329C>G (p.Thr443=) c.1080C>G (p.Thr360=) | ClinVar dbSNP gnomAD v4 |
2 | g.219425724C>T | CA431285596 | DES | n.824C>T n.738C>T c.1350C>T (p.Thr450=) n.205C>T c.1347C>T (p.Thr449=) c.918C>T (p.Thr306=) c.1281C>T (p.Thr427=) c.1329C>T (p.Thr443=) c.1080C>T (p.Thr360=) | |
2 | g.219425725A>C | CA350698708 | DES | n.825A>C n.739A>C c.1351A>C (p.Ile451Leu) n.206A>C c.1348A>C (p.Ile450Leu) c.919A>C (p.Ile307Leu) c.1282A>C (p.Ile428Leu) c.1330A>C (p.Ile444Leu) c.1081A>C (p.Ile361Leu) | |
2 | g.219425725A>G | CA350698704 | DES | n.825A>G n.739A>G c.1351A>G (p.Ile451Val) n.206A>G c.1348A>G (p.Ile450Val) c.919A>G (p.Ile307Val) c.1282A>G (p.Ile428Val) c.1330A>G (p.Ile444Val) c.1081A>G (p.Ile361Val) | gnomAD v4 |
2 | g.219425725A>T | CA350698701 | DES | n.825A>T n.739A>T c.1351A>T (p.Ile451Phe) n.206A>T c.1348A>T (p.Ile450Phe) c.919A>T (p.Ile307Phe) c.1282A>T (p.Ile428Phe) c.1330A>T (p.Ile444Phe) c.1081A>T (p.Ile361Phe) | |
2 | g.219425726T>A | CA350698710 | DES | n.826T>A n.740T>A c.1352T>A (p.Ile451Asn) n.207T>A c.1349T>A (p.Ile450Asn) c.920T>A (p.Ile307Asn) c.1283T>A (p.Ile428Asn) c.1331T>A (p.Ile444Asn) c.1082T>A (p.Ile361Asn) | gnomAD v4 |
2 | g.219425726T>C | CA350698715 | DES | n.826T>C n.740T>C c.1352T>C (p.Ile451Thr) n.207T>C c.1349T>C (p.Ile450Thr) c.920T>C (p.Ile307Thr) c.1283T>C (p.Ile428Thr) c.1331T>C (p.Ile444Thr) c.1082T>C (p.Ile361Thr) | |
2 | g.219425726T>G | CA350698712 | DES | n.826T>G n.740T>G c.1352T>G (p.Ile451Ser) n.207T>G c.1349T>G (p.Ile450Ser) c.920T>G (p.Ile307Ser) c.1283T>G (p.Ile428Ser) c.1331T>G (p.Ile444Ser) c.1082T>G (p.Ile361Ser) | |
2 | g.219425726_219425731delinsTCGAGA | CA1329213130 | DES | n.826_831delinsTCGAGA n.740_745delinsTCGAGA c.1352_1357delinsTCGAGA (p.Ile451=) n.207_212delinsTCGAGA c.1349_1354delinsTCGAGA (p.Ile450=) c.920_925delinsTCGAGA (p.Ile307=) c.1283_1288delinsTCGAGA (p.Ile428=) c.1331_1336delinsTCGAGA (p.Ile444=) c.1082_1087delinsTCGAGA (p.Ile361=) | |
2 | g.219425727C>A | CA431285597 | DES | n.827C>A n.741C>A c.1353C>A (p.Ile451=) n.208C>A c.1350C>A (p.Ile450=) c.921C>A (p.Ile307=) c.1284C>A (p.Ile428=) c.1332C>A (p.Ile444=) c.1083C>A (p.Ile361=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219425727C= | CA1329213131 | DES | n.827C= n.741C= c.1353C= (p.Ile451=) n.208C= c.1350C= (p.Ile450=) c.921C= (p.Ile307=) c.1284C= (p.Ile428=) c.1332C= (p.Ile444=) c.1083C= (p.Ile361=) | |
2 | g.219425727C>G | CA257644 | DES | n.827C>G n.741C>G c.1353C>G (p.Ile451Met) n.208C>G c.1350C>G (p.Ile450Met) c.921C>G (p.Ile307Met) c.1284C>G (p.Ile428Met) c.1332C>G (p.Ile444Met) c.1083C>G (p.Ile361Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219425727C>T | CA2125305 | DES | n.827C>T n.741C>T c.1353C>T (p.Ile451=) n.208C>T c.1350C>T (p.Ile450=) c.921C>T (p.Ile307=) c.1284C>T (p.Ile428=) c.1332C>T (p.Ile444=) c.1083C>T (p.Ile361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.219425728_219425732del | CA16610722 | DES | n.828_832del n.742_746del c.1354_1358del (p.Glu452ThrfsTer8) n.209_213del c.1351_1355del (p.Glu451ThrfsTer8) c.922_926del (p.Glu308ThrfsTer8) c.1285_1289del (p.Glu429ThrfsTer8) c.1333_1337del (p.Glu445ThrfsTer8) c.1354_1358del (p.Glu452ThrfsTer20) c.1084_1088del (p.Glu362ThrfsTer8) | ClinVar dbSNP |
2 | g.219425728G>A | CA350698725 | DES | n.828G>A n.742G>A c.1354G>A (p.Glu452Lys) n.209G>A c.1351G>A (p.Glu451Lys) c.922G>A (p.Glu308Lys) c.1285G>A (p.Glu429Lys) c.1333G>A (p.Glu445Lys) c.1084G>A (p.Glu362Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219425728G>C | CA350698728 | DES | n.828G>C n.742G>C c.1354G>C (p.Glu452Gln) n.209G>C c.1351G>C (p.Glu451Gln) c.922G>C (p.Glu308Gln) c.1285G>C (p.Glu429Gln) c.1333G>C (p.Glu445Gln) c.1084G>C (p.Glu362Gln) | |
2 | g.219425728G= | CA1329213132 | DES | n.828G= n.742G= c.1354G= (p.Glu452=) n.209G= c.1351G= (p.Glu451=) c.922G= (p.Glu308=) c.1285G= (p.Glu429=) c.1333G= (p.Glu445=) c.1084G= (p.Glu362=) | |
2 | g.219425728G>T | CA350698732 | DES | n.828G>T n.742G>T c.1354G>T (p.Glu452Ter) n.209G>T c.1351G>T (p.Glu451Ter) c.922G>T (p.Glu308Ter) c.1285G>T (p.Glu429Ter) c.1333G>T (p.Glu445Ter) c.1084G>T (p.Glu362Ter) | gnomAD v4 |
2 | g.219425729A>C | CA350698736 | DES | n.829A>C n.743A>C c.1355A>C (p.Glu452Ala) n.210A>C c.1352A>C (p.Glu451Ala) c.923A>C (p.Glu308Ala) c.1286A>C (p.Glu429Ala) c.1334A>C (p.Glu445Ala) c.1085A>C (p.Glu362Ala) | |
2 | g.219425729A>G | CA350698740 | DES | n.829A>G n.743A>G c.1355A>G (p.Glu452Gly) n.210A>G c.1352A>G (p.Glu451Gly) c.923A>G (p.Glu308Gly) c.1286A>G (p.Glu429Gly) c.1334A>G (p.Glu445Gly) c.1085A>G (p.Glu362Gly) | |
2 | g.219425729A>T | CA350698743 | DES | n.829A>T n.743A>T c.1355A>T (p.Glu452Val) n.210A>T c.1352A>T (p.Glu451Val) c.923A>T (p.Glu308Val) c.1286A>T (p.Glu429Val) c.1334A>T (p.Glu445Val) c.1085A>T (p.Glu362Val) | gnomAD v4 |
2 | g.219425730G>A | CA431285598 | DES | n.830G>A n.744G>A c.1356G>A (p.Glu452=) n.211G>A c.1353G>A (p.Glu451=) c.924G>A (p.Glu308=) c.1287G>A (p.Glu429=) c.1335G>A (p.Glu445=) c.1086G>A (p.Glu362=) | gnomAD v4 |
2 | g.219425730G>C | CA350698745 | DES | n.830G>C n.744G>C c.1356G>C (p.Glu452Asp) n.211G>C c.1353G>C (p.Glu451Asp) c.924G>C (p.Glu308Asp) c.1287G>C (p.Glu429Asp) c.1335G>C (p.Glu445Asp) c.1086G>C (p.Glu362Asp) | |
2 | g.219425730G>T | CA350698748 | DES | n.830G>T n.744G>T c.1356G>T (p.Glu452Asp) n.211G>T c.1353G>T (p.Glu451Asp) c.924G>T (p.Glu308Asp) c.1287G>T (p.Glu429Asp) c.1335G>T (p.Glu445Asp) c.1086G>T (p.Glu362Asp) | gnomAD v4 |
2 | g.219425731A= | CA1329213133 | DES | n.831A= n.745A= c.1357A= (p.Thr453=) n.212A= c.1354A= (p.Thr452=) c.925A= (p.Thr309=) c.1288A= (p.Thr430=) c.1336A= (p.Thr446=) c.1087A= (p.Thr363=) | |
2 | g.219425731A>C | CA350698752 | DES | n.831A>C n.745A>C c.1357A>C (p.Thr453Pro) n.212A>C c.1354A>C (p.Thr452Pro) c.925A>C (p.Thr309Pro) c.1288A>C (p.Thr430Pro) c.1336A>C (p.Thr446Pro) c.1087A>C (p.Thr363Pro) | |
2 | g.219425731A>G | CA350698754 | DES | n.831A>G n.745A>G c.1357A>G (p.Thr453Ala) n.212A>G c.1354A>G (p.Thr452Ala) c.925A>G (p.Thr309Ala) c.1288A>G (p.Thr430Ala) c.1336A>G (p.Thr446Ala) c.1087A>G (p.Thr363Ala) | dbSNP |
2 | g.219425731A>T | CA350698756 | DES | n.831A>T n.745A>T c.1357A>T (p.Thr453Ser) n.212A>T c.1354A>T (p.Thr452Ser) c.925A>T (p.Thr309Ser) c.1288A>T (p.Thr430Ser) c.1336A>T (p.Thr446Ser) c.1087A>T (p.Thr363Ser) | |
2 | g.219425732C>A | CA350698757 | DES | n.832C>A n.746C>A c.1358C>A (p.Thr453Lys) n.213C>A c.1355C>A (p.Thr452Lys) c.926C>A (p.Thr309Lys) c.1289C>A (p.Thr430Lys) c.1337C>A (p.Thr446Lys) c.1088C>A (p.Thr363Lys) | |
2 | g.219425732C= | CA1329213134 | DES | n.832C= n.746C= c.1358C= (p.Thr453=) n.213C= c.1355C= (p.Thr452=) c.926C= (p.Thr309=) c.1289C= (p.Thr430=) c.1337C= (p.Thr446=) c.1088C= (p.Thr363=) | |
2 | g.219425732C>G | CA350698762 | DES | n.832C>G n.746C>G c.1358C>G (p.Thr453Arg) n.213C>G c.1355C>G (p.Thr452Arg) c.926C>G (p.Thr309Arg) c.1289C>G (p.Thr430Arg) c.1337C>G (p.Thr446Arg) c.1088C>G (p.Thr363Arg) | |
2 | g.219425732C>T | CA217040 | DES | n.832C>T n.746C>T c.1358C>T (p.Thr453Ile) n.213C>T c.1355C>T (p.Thr452Ile) c.926C>T (p.Thr309Ile) c.1289C>T (p.Thr430Ile) c.1337C>T (p.Thr446Ile) c.1088C>T (p.Thr363Ile) | ClinVar dbSNP |
2 | g.219425733A= | CA1329213135 | DES | n.833A= n.747A= c.1359A= (p.Thr453=) n.214A= c.1356A= (p.Thr452=) c.927A= (p.Thr309=) c.1290A= (p.Thr430=) c.1338A= (p.Thr446=) c.1089A= (p.Thr363=) | |
2 | g.219425733A>C | CA431285599 | DES | n.833A>C n.747A>C c.1359A>C (p.Thr453=) n.214A>C c.1356A>C (p.Thr452=) c.927A>C (p.Thr309=) c.1290A>C (p.Thr430=) c.1338A>C (p.Thr446=) c.1089A>C (p.Thr363=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219425733A>G | CA431285600 | DES | n.833A>G n.747A>G c.1359A>G (p.Thr453=) n.214A>G c.1356A>G (p.Thr452=) c.927A>G (p.Thr309=) c.1290A>G (p.Thr430=) c.1338A>G (p.Thr446=) c.1089A>G (p.Thr363=) | gnomAD v4 |
2 | g.219425733A>T | CA431285601 | DES | n.833A>T n.747A>T c.1359A>T (p.Thr453=) n.214A>T c.1356A>T (p.Thr452=) c.927A>T (p.Thr309=) c.1290A>T (p.Thr430=) c.1338A>T (p.Thr446=) c.1089A>T (p.Thr363=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219425734C>A | CA431285602 | DES | n.834C>A n.748C>A c.1360C>A (p.Arg454=) n.215C>A c.1357C>A (p.Arg453=) c.928C>A (p.Arg310=) c.1291C>A (p.Arg431=) c.1339C>A (p.Arg447=) c.1090C>A (p.Arg364=) | ClinVar |
2 | g.219425734C= | CA1329213136 | DES | n.834C= n.748C= c.1360C= (p.Arg454=) n.215C= c.1357C= (p.Arg453=) c.928C= (p.Arg310=) c.1291C= (p.Arg431=) c.1339C= (p.Arg447=) c.1090C= (p.Arg364=) | |
2 | g.219425734C>G | CA350698765 | DES | n.834C>G n.748C>G c.1360C>G (p.Arg454Gly) n.215C>G c.1357C>G (p.Arg453Gly) c.928C>G (p.Arg310Gly) c.1291C>G (p.Arg431Gly) c.1339C>G (p.Arg447Gly) c.1090C>G (p.Arg364Gly) | |
2 | g.219425734C>T | CA217043 | DES | n.834C>T n.748C>T c.1360C>T (p.Arg454Trp) n.215C>T c.1357C>T (p.Arg453Trp) c.928C>T (p.Arg310Trp) c.1291C>T (p.Arg431Trp) c.1339C>T (p.Arg447Trp) c.1090C>T (p.Arg364Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.219425735G>A | CA302358 | DES | n.835G>A n.749G>A c.1361G>A (p.Arg454Gln) n.216G>A c.1358G>A (p.Arg453Gln) c.929G>A (p.Arg310Gln) c.1292G>A (p.Arg431Gln) c.1340G>A (p.Arg447Gln) c.1091G>A (p.Arg364Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219425735G>C | CA350698772 | DES | n.835G>C n.749G>C c.1361G>C (p.Arg454Pro) n.216G>C c.1358G>C (p.Arg453Pro) c.929G>C (p.Arg310Pro) c.1292G>C (p.Arg431Pro) c.1340G>C (p.Arg447Pro) c.1091G>C (p.Arg364Pro) | |
2 | g.219425735G= | CA1329213137 | DES | n.835G= n.749G= c.1361G= (p.Arg454=) n.216G= c.1358G= (p.Arg453=) c.929G= (p.Arg310=) c.1292G= (p.Arg431=) c.1340G= (p.Arg447=) c.1091G= (p.Arg364=) | |
2 | g.219425735G>T | CA350698774 | DES | n.835G>T n.749G>T c.1361G>T (p.Arg454Leu) n.216G>T c.1358G>T (p.Arg453Leu) c.929G>T (p.Arg310Leu) c.1292G>T (p.Arg431Leu) c.1340G>T (p.Arg447Leu) c.1091G>T (p.Arg364Leu) | gnomAD v4 |
2 | g.219425737del | CA2825001090 | DES | n.837del n.751del c.1363del (p.Asp455MetfsTer?) n.218del c.1360del (p.Asp454MetfsTer?) c.931del (p.Asp311MetfsTer?) c.1294del (p.Asp432MetfsTer?) c.1342del (p.Asp448MetfsTer?) c.1093del (p.Asp365MetfsTer?) | ClinVar |
2 | g.219425736G>A | CA431285604 | DES | n.836G>A n.750G>A c.1362G>A (p.Arg454=) n.217G>A c.1359G>A (p.Arg453=) c.930G>A (p.Arg310=) c.1293G>A (p.Arg431=) c.1341G>A (p.Arg447=) c.1092G>A (p.Arg364=) | |
2 | g.219425736G>C | CA431285605 | DES | n.836G>C n.750G>C c.1362G>C (p.Arg454=) n.217G>C c.1359G>C (p.Arg453=) c.930G>C (p.Arg310=) c.1293G>C (p.Arg431=) c.1341G>C (p.Arg447=) c.1092G>C (p.Arg364=) | |
2 | g.219425736G>T | CA431285603 | DES | n.836G>T n.750G>T c.1362G>T (p.Arg454=) n.217G>T c.1359G>T (p.Arg453=) c.930G>T (p.Arg310=) c.1293G>T (p.Arg431=) c.1341G>T (p.Arg447=) c.1092G>T (p.Arg364=) | |
2 | g.219425737G>A | CA2125306 | DES | n.837G>A n.751G>A c.1363G>A (p.Asp455Asn) n.218G>A c.1360G>A (p.Asp454Asn) c.931G>A (p.Asp311Asn) c.1294G>A (p.Asp432Asn) c.1342G>A (p.Asp448Asn) c.1093G>A (p.Asp365Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219425737G>C | CA350698779 | DES | n.837G>C n.751G>C c.1363G>C (p.Asp455His) n.218G>C c.1360G>C (p.Asp454His) c.931G>C (p.Asp311His) c.1294G>C (p.Asp432His) c.1342G>C (p.Asp448His) c.1093G>C (p.Asp365His) | |
2 | g.219425737G= | CA1329213138 | DES | n.837G= n.751G= c.1363G= (p.Asp455=) n.218G= c.1360G= (p.Asp454=) c.931G= (p.Asp311=) c.1294G= (p.Asp432=) c.1342G= (p.Asp448=) c.1093G= (p.Asp365=) | |
2 | g.219425737G>T | CA350698781 | DES | n.837G>T n.751G>T c.1363G>T (p.Asp455Tyr) n.218G>T c.1360G>T (p.Asp454Tyr) c.931G>T (p.Asp311Tyr) c.1294G>T (p.Asp432Tyr) c.1342G>T (p.Asp448Tyr) c.1093G>T (p.Asp365Tyr) | |
2 | g.219425738A>C | CA350698786 | DES | n.838A>C n.752A>C c.1364A>C (p.Asp455Ala) n.219A>C c.1361A>C (p.Asp454Ala) c.932A>C (p.Asp311Ala) c.1295A>C (p.Asp432Ala) c.1343A>C (p.Asp448Ala) c.1094A>C (p.Asp365Ala) | |
2 | g.219425738A>G | CA350698789 | DES | n.838A>G n.752A>G c.1364A>G (p.Asp455Gly) n.219A>G c.1361A>G (p.Asp454Gly) c.932A>G (p.Asp311Gly) c.1295A>G (p.Asp432Gly) c.1343A>G (p.Asp448Gly) c.1094A>G (p.Asp365Gly) | |
2 | g.219425738A>T | CA16622112 | DES | n.838A>T n.752A>T c.1364A>T (p.Asp455Val) n.219A>T c.1361A>T (p.Asp454Val) c.932A>T (p.Asp311Val) c.1295A>T (p.Asp432Val) c.1343A>T (p.Asp448Val) c.1094A>T (p.Asp365Val) | ClinVar dbSNP |
2 | g.219425739T>A | CA350698792 | DES | n.839T>A n.753T>A c.1365T>A (p.Asp455Glu) n.220T>A c.1362T>A (p.Asp454Glu) c.933T>A (p.Asp311Glu) c.1296T>A (p.Asp432Glu) c.1344T>A (p.Asp448Glu) c.1095T>A (p.Asp365Glu) | |
2 | g.219425739T>C | CA431285606 | DES | n.839T>C n.753T>C c.1365T>C (p.Asp455=) n.220T>C c.1362T>C (p.Asp454=) c.933T>C (p.Asp311=) c.1296T>C (p.Asp432=) c.1344T>C (p.Asp448=) c.1095T>C (p.Asp365=) | gnomAD v4 |
2 | g.219425739T>G | CA350698794 | DES | n.839T>G n.753T>G c.1365T>G (p.Asp455Glu) n.220T>G c.1362T>G (p.Asp454Glu) c.933T>G (p.Asp311Glu) c.1296T>G (p.Asp432Glu) c.1344T>G (p.Asp448Glu) c.1095T>G (p.Asp365Glu) | |
2 | g.219425740G>A | CA133826 | DES | n.840G>A n.754G>A c.1366G>A (p.Gly456Arg) n.221G>A c.1363G>A (p.Gly455Arg) c.934G>A (p.Gly312Arg) c.1297G>A (p.Gly433Arg) c.1345G>A (p.Gly449Arg) c.1096G>A (p.Gly366Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.219425740G>C | CA350698798 | DES | n.840G>C n.754G>C c.1366G>C (p.Gly456Arg) n.221G>C c.1363G>C (p.Gly455Arg) c.934G>C (p.Gly312Arg) c.1297G>C (p.Gly433Arg) c.1345G>C (p.Gly449Arg) c.1096G>C (p.Gly366Arg) | |
2 | g.219425740G= | CA1329213139 | DES | n.840G= n.754G= c.1366G= (p.Gly456=) n.221G= c.1363G= (p.Gly455=) c.934G= (p.Gly312=) c.1297G= (p.Gly433=) c.1345G= (p.Gly449=) c.1096G= (p.Gly366=) | |
2 | g.219425740G>T | CA350698801 | DES | n.840G>T n.754G>T c.1366G>T (p.Gly456Trp) n.221G>T c.1363G>T (p.Gly455Trp) c.934G>T (p.Gly312Trp) c.1297G>T (p.Gly433Trp) c.1345G>T (p.Gly449Trp) c.1096G>T (p.Gly366Trp) | |
2 | g.219425741G>A | CA350698807 | DES | n.841G>A n.755G>A c.1367G>A (p.Gly456Glu) n.222G>A c.1364G>A (p.Gly455Glu) c.935G>A (p.Gly312Glu) c.1298G>A (p.Gly433Glu) c.1346G>A (p.Gly449Glu) c.1097G>A (p.Gly366Glu) | |
2 | g.219425741G>C | CA350698809 | DES | n.841G>C n.755G>C c.1367G>C (p.Gly456Ala) n.222G>C c.1364G>C (p.Gly455Ala) c.935G>C (p.Gly312Ala) c.1298G>C (p.Gly433Ala) c.1346G>C (p.Gly449Ala) c.1097G>C (p.Gly366Ala) | |
2 | g.219425741G>T | CA350698813 | DES | n.841G>T n.755G>T c.1367G>T (p.Gly456Val) n.222G>T c.1364G>T (p.Gly455Val) c.935G>T (p.Gly312Val) c.1298G>T (p.Gly433Val) c.1346G>T (p.Gly449Val) c.1097G>T (p.Gly366Val) | |
2 | g.219425742G>A | CA431285607 | DES | n.842G>A n.756G>A c.1368G>A (p.Gly456=) n.223G>A c.1365G>A (p.Gly455=) c.936G>A (p.Gly312=) c.1299G>A (p.Gly433=) c.1347G>A (p.Gly449=) c.1098G>A (p.Gly366=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219425742G>C | CA65986988 | DES | n.842G>C n.756G>C c.1368G>C (p.Gly456=) n.223G>C c.1365G>C (p.Gly455=) c.936G>C (p.Gly312=) c.1299G>C (p.Gly433=) c.1347G>C (p.Gly449=) c.1098G>C (p.Gly366=) | dbSNP |
2 | g.219425742G= | CA1329213140 | DES | n.842G= n.756G= c.1368G= (p.Gly456=) n.223G= c.1365G= (p.Gly455=) c.936G= (p.Gly312=) c.1299G= (p.Gly433=) c.1347G= (p.Gly449=) c.1098G= (p.Gly366=) | |
2 | g.219425742G>T | CA431285608 | DES | n.842G>T n.756G>T c.1368G>T (p.Gly456=) n.223G>T c.1365G>T (p.Gly455=) c.936G>T (p.Gly312=) c.1299G>T (p.Gly433=) c.1347G>T (p.Gly449=) c.1098G>T (p.Gly366=) | gnomAD v4 |
2 | g.219425743G>A | CA350698821 | DES | n.843G>A n.757G>A c.1369G>A (p.Glu457Lys) n.224G>A c.1366G>A (p.Glu456Lys) c.937G>A (p.Glu313Lys) c.1300G>A (p.Glu434Lys) c.1348G>A (p.Glu450Lys) c.1099G>A (p.Glu367Lys) | gnomAD v4 |
2 | g.219425743G>C | CA350698815 | DES | n.843G>C n.757G>C c.1369G>C (p.Glu457Gln) n.224G>C c.1366G>C (p.Glu456Gln) c.937G>C (p.Glu313Gln) c.1300G>C (p.Glu434Gln) c.1348G>C (p.Glu450Gln) c.1099G>C (p.Glu367Gln) | |
2 | g.219425743G>T | CA350698819 | DES | n.843G>T n.757G>T c.1369G>T (p.Glu457Ter) n.224G>T c.1366G>T (p.Glu456Ter) c.937G>T (p.Glu313Ter) c.1300G>T (p.Glu434Ter) c.1348G>T (p.Glu450Ter) c.1099G>T (p.Glu367Ter) | |
2 | g.219425744A= | CA1329213141 | DES | n.844A= n.758A= c.1370A= (p.Glu457=) n.225A= c.1367A= (p.Glu456=) c.938A= (p.Glu313=) c.1301A= (p.Glu434=) c.1349A= (p.Glu450=) c.1100A= (p.Glu367=) | |
2 | g.219425744A>C | CA350698827 | DES | n.844A>C n.758A>C c.1370A>C (p.Glu457Ala) n.225A>C c.1367A>C (p.Glu456Ala) c.938A>C (p.Glu313Ala) c.1301A>C (p.Glu434Ala) c.1349A>C (p.Glu450Ala) c.1100A>C (p.Glu367Ala) | |
2 | g.219425744A>G | CA350698828 | DES | n.844A>G n.758A>G c.1370A>G (p.Glu457Gly) n.225A>G c.1367A>G (p.Glu456Gly) c.938A>G (p.Glu313Gly) c.1301A>G (p.Glu434Gly) c.1349A>G (p.Glu450Gly) c.1100A>G (p.Glu367Gly) | |
2 | g.219425744A>T | CA217045 | DES | n.844A>T n.758A>T c.1370A>T (p.Glu457Val) n.225A>T c.1367A>T (p.Glu456Val) c.938A>T (p.Glu313Val) c.1301A>T (p.Glu434Val) c.1349A>T (p.Glu450Val) c.1100A>T (p.Glu367Val) | ClinVar dbSNP |
2 | g.219425745G>A | CA431285609 | DES | n.845G>A n.759G>A c.1371G>A (p.Glu457=) n.226G>A c.1368G>A (p.Glu456=) c.939G>A (p.Glu313=) c.1302G>A (p.Glu434=) c.1350G>A (p.Glu450=) c.1101G>A (p.Glu367=) | |
2 | g.219425745G>C | CA350698837 | DES | n.845G>C n.759G>C c.1371G>C (p.Glu457Asp) n.226G>C c.1368G>C (p.Glu456Asp) c.939G>C (p.Glu313Asp) c.1302G>C (p.Glu434Asp) c.1350G>C (p.Glu450Asp) c.1101G>C (p.Glu367Asp) | gnomAD v4 |
2 | g.219425745G>T | CA350698840 | DES | n.845G>T n.759G>T c.1371G>T (p.Glu457Asp) n.226G>T c.1368G>T (p.Glu456Asp) c.939G>T (p.Glu313Asp) c.1302G>T (p.Glu434Asp) c.1350G>T (p.Glu450Asp) c.1101G>T (p.Glu367Asp) | gnomAD v4 |
2 | g.219425746G>A | CA308296 | DES | n.845+1G>A n.759+1G>A c.1371+1G>A (n.1371+1G>A) n.226+1G>A c.1368+1G>A (n.1368+1G>A) c.939+1G>A (n.939+1G>A) c.1302+1G>A (n.1302+1G>A) c.1350+1G>A (n.1350+1G>A) c.1101+1G>A (n.1101+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219425746G>C | CA308297 | DES | n.845+1G>C n.759+1G>C c.1371+1G>C (n.1371+1G>C) n.226+1G>C c.1368+1G>C (n.1368+1G>C) c.939+1G>C (n.939+1G>C) c.1302+1G>C (n.1302+1G>C) c.1350+1G>C (n.1350+1G>C) c.1101+1G>C (n.1101+1G>C) | ClinVar dbSNP |
2 | g.219425746G= | CA1329213142 | DES | n.845+1G= n.759+1G= c.1371+1G= (n.1371+1G=) n.226+1G= c.1368+1G= (n.1368+1G=) c.939+1G= (n.939+1G=) c.1302+1G= (n.1302+1G=) c.1350+1G= (n.1350+1G=) c.1101+1G= (n.1101+1G=) | |
2 | g.219425746G>T | CA350698846 | DES | n.845+1G>T n.759+1G>T c.1371+1G>T (n.1371+1G>T) n.226+1G>T c.1368+1G>T (n.1368+1G>T) c.939+1G>T (n.939+1G>T) c.1302+1G>T (n.1302+1G>T) c.1350+1G>T (n.1350+1G>T) c.1101+1G>T (n.1101+1G>T) | ClinVar |
2 | g.219425747T>A | CA350698851 | DES | n.845+2T>A n.759+2T>A c.1371+2T>A (n.1371+2T>A) n.226+2T>A c.1368+2T>A (n.1368+2T>A) c.939+2T>A (n.939+2T>A) c.1302+2T>A (n.1302+2T>A) c.1350+2T>A (n.1350+2T>A) c.1101+2T>A (n.1101+2T>A) | gnomAD v4 |
2 | g.219425747T>C | CA350698853 | DES | n.845+2T>C n.759+2T>C c.1371+2T>C (n.1371+2T>C) n.226+2T>C c.1368+2T>C (n.1368+2T>C) c.939+2T>C (n.939+2T>C) c.1302+2T>C (n.1302+2T>C) c.1350+2T>C (n.1350+2T>C) c.1101+2T>C (n.1101+2T>C) | |
2 | g.219425747T>G | CA350698857 | DES | n.845+2T>G n.759+2T>G c.1371+2T>G (n.1371+2T>G) n.226+2T>G c.1368+2T>G (n.1368+2T>G) c.939+2T>G (n.939+2T>G) c.1302+2T>G (n.1302+2T>G) c.1350+2T>G (n.1350+2T>G) c.1101+2T>G (n.1101+2T>G) | dbSNP |
2 | g.219425747T= | CA1329213143 | DES | n.845+2T= n.759+2T= c.1371+2T= (n.1371+2T=) n.226+2T= c.1368+2T= (n.1368+2T=) c.939+2T= (n.939+2T=) c.1302+2T= (n.1302+2T=) c.1350+2T= (n.1350+2T=) c.1101+2T= (n.1101+2T=) | |
2 | g.219425747dup | CA2573135392 | DES | n.845+2dup n.759+2dup c.1371+2dup (n.1371+2dup) n.226+2dup c.1368+2dup (n.1368+2dup) c.939+2dup (n.939+2dup) c.1302+2dup (n.1302+2dup) c.1350+2dup (n.1350+2dup) c.1101+2dup (n.1101+2dup) | ClinVar dbSNP |
2 | g.219425747_219425748insCGTC | CA2663252183 | DES | n.845+2_845+3insCGTC n.759+2_759+3insCGTC c.1371+2_1371+3insCGTC (n.1371+2_1371+3insCGTC) n.226+2_226+3insCGTC c.1368+2_1368+3insCGTC (n.1368+2_1368+3insCGTC) c.939+2_939+3insCGTC (n.939+2_939+3insCGTC) c.1302+2_1302+3insCGTC (n.1302+2_1302+3insCGTC) c.1350+2_1350+3insCGTC (n.1350+2_1350+3insCGTC) c.1101+2_1101+3insCGTC (n.1101+2_1101+3insCGTC) | gnomAD v4 |
2 | g.219425747_219425748insCGTCAGTGAGGCCACACAGCAGCAGC | CA2663252184 | DES | n.845+2_845+3insCGTCAGTGAGGCCACACAGCAGCAGC n.759+2_759+3insCGTCAGTGAGGCCACACAGCAGCAGC c.1371+2_1371+3insCGTCAGTGAGGCCACACAGCAGCAGC (n.1371+2_1371+3insCGTCAGTGAGGCCACACAGCAGCAGC) n.226+2_226+3insCGTCAGTGAGGCCACACAGCAGCAGC c.1368+2_1368+3insCGTCAGTGAGGCCACACAGCAGCAGC (n.1368+2_1368+3insCGTCAGTGAGGCCACACAGCAGCAGC) c.939+2_939+3insCGTCAGTGAGGCCACACAGCAGCAGC (n.939+2_939+3insCGTCAGTGAGGCCACACAGCAGCAGC) c.1302+2_1302+3insCGTCAGTGAGGCCACACAGCAGCAGC (n.1302+2_1302+3insCGTCAGTGAGGCCACACAGCAGCAGC) c.1350+2_1350+3insCGTCAGTGAGGCCACACAGCAGCAGC (n.1350+2_1350+3insCGTCAGTGAGGCCACACAGCAGCAGC) c.1101+2_1101+3insCGTCAGTGAGGCCACACAGCAGCAGC (n.1101+2_1101+3insCGTCAGTGAGGCCACACAGCAGCAGC) | gnomAD v4 |
2 | g.219425747_219425748insCGTCAGTGAGGCCACACAGCAGCAGCATG | CA2663252185 | DES | n.845+2_845+3insCGTCAGTGAGGCCACACAGCAGCAGCATG n.759+2_759+3insCGTCAGTGAGGCCACACAGCAGCAGCATG c.1371+2_1371+3insCGTCAGTGAGGCCACACAGCAGCAGCATG (n.1371+2_1371+3insCGTCAGTGAGGCCACACAGCAGCAGCATG) n.226+2_226+3insCGTCAGTGAGGCCACACAGCAGCAGCATG c.1368+2_1368+3insCGTCAGTGAGGCCACACAGCAGCAGCATG (n.1368+2_1368+3insCGTCAGTGAGGCCACACAGCAGCAGCATG) c.939+2_939+3insCGTCAGTGAGGCCACACAGCAGCAGCATG (n.939+2_939+3insCGTCAGTGAGGCCACACAGCAGCAGCATG) c.1302+2_1302+3insCGTCAGTGAGGCCACACAGCAGCAGCATG (n.1302+2_1302+3insCGTCAGTGAGGCCACACAGCAGCAGCATG) c.1350+2_1350+3insCGTCAGTGAGGCCACACAGCAGCAGCATG (n.1350+2_1350+3insCGTCAGTGAGGCCACACAGCAGCAGCATG) c.1101+2_1101+3insCGTCAGTGAGGCCACACAGCAGCAGCATG (n.1101+2_1101+3insCGTCAGTGAGGCCACACAGCAGCAGCATG) | gnomAD v4 |
2 | g.219425748A>G | CA2663252186 | DES | n.845+3A>G n.759+3A>G c.1371+3A>G (n.1371+3A>G) n.226+3A>G c.1368+3A>G (n.1368+3A>G) c.939+3A>G (n.939+3A>G) c.1302+3A>G (n.1302+3A>G) c.1350+3A>G (n.1350+3A>G) c.1101+3A>G (n.1101+3A>G) | gnomAD v4 |
2 | g.219425748_219425749insGTGAGGCCACAC | CA2663252187 | DES | n.845+3_845+4insGTGAGGCCACAC n.759+3_759+4insGTGAGGCCACAC c.1371+3_1371+4insGTGAGGCCACAC (n.1371+3_1371+4insGTGAGGCCACAC) n.226+3_226+4insGTGAGGCCACAC c.1368+3_1368+4insGTGAGGCCACAC (n.1368+3_1368+4insGTGAGGCCACAC) c.939+3_939+4insGTGAGGCCACAC (n.939+3_939+4insGTGAGGCCACAC) c.1302+3_1302+4insGTGAGGCCACAC (n.1302+3_1302+4insGTGAGGCCACAC) c.1350+3_1350+4insGTGAGGCCACAC (n.1350+3_1350+4insGTGAGGCCACAC) c.1101+3_1101+4insGTGAGGCCACAC (n.1101+3_1101+4insGTGAGGCCACAC) | gnomAD v4 |
2 | g.219425749A= | CA1329213144 | DES | n.845+4A= n.759+4A= c.1371+4A= (n.1371+4A=) n.226+4A= c.1368+4A= (n.1368+4A=) c.939+4A= (n.939+4A=) c.1302+4A= (n.1302+4A=) c.1350+4A= (n.1350+4A=) c.1101+4A= (n.1101+4A=) | |
2 | g.219425749A>G | CA539843257 | DES | n.845+4A>G n.759+4A>G c.1371+4A>G (n.1371+4A>G) n.226+4A>G c.1368+4A>G (n.1368+4A>G) c.939+4A>G (n.939+4A>G) c.1302+4A>G (n.1302+4A>G) c.1350+4A>G (n.1350+4A>G) c.1101+4A>G (n.1101+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219425749A>T | CA2663252188 | DES | n.845+4A>T n.759+4A>T c.1371+4A>T (n.1371+4A>T) n.226+4A>T c.1368+4A>T (n.1368+4A>T) c.939+4A>T (n.939+4A>T) c.1302+4A>T (n.1302+4A>T) c.1350+4A>T (n.1350+4A>T) c.1101+4A>T (n.1101+4A>T) | gnomAD v4 |
2 | g.219425751T>G | CA2577252684 | DES | n.845+6T>G n.759+6T>G c.1371+6T>G (n.1371+6T>G) n.226+6T>G c.1368+6T>G (n.1368+6T>G) c.939+6T>G (n.939+6T>G) c.1302+6T>G (n.1302+6T>G) c.1350+6T>G (n.1350+6T>G) c.1101+6T>G (n.1101+6T>G) | gnomAD v4 |
2 | g.219425753G>C | CA2663252190 | DES | n.845+8G>C n.759+8G>C c.1371+8G>C (n.1371+8G>C) n.226+8G>C c.1368+8G>C (n.1368+8G>C) c.939+8G>C (n.939+8G>C) c.1302+8G>C (n.1302+8G>C) c.1350+8G>C (n.1350+8G>C) c.1101+8G>C (n.1101+8G>C) | gnomAD v4 |
2 | g.219425758_219425761del | CA2663252189 | DES | n.845+13_845+16del n.759+13_759+16del c.1371+13_1371+16del (n.1371+13_1371+16del) n.226+13_226+16del c.1368+13_1368+16del (n.1368+13_1368+16del) c.939+13_939+16del (n.939+13_939+16del) c.1302+13_1302+16del (n.1302+13_1302+16del) c.1350+13_1350+16del (n.1350+13_1350+16del) c.1101+13_1101+16del (n.1101+13_1101+16del) | gnomAD v4 |
2 | g.219425755C>A | CA2663252191 | DES | n.845+10C>A n.759+10C>A c.1371+10C>A (n.1371+10C>A) n.226+10C>A c.1368+10C>A (n.1368+10C>A) c.939+10C>A (n.939+10C>A) c.1302+10C>A (n.1302+10C>A) c.1350+10C>A (n.1350+10C>A) c.1101+10C>A (n.1101+10C>A) | gnomAD v4 |
2 | g.219425755C= | CA1329213145 | DES | n.845+10C= n.759+10C= c.1371+10C= (n.1371+10C=) n.226+10C= c.1368+10C= (n.1368+10C=) c.939+10C= (n.939+10C=) c.1302+10C= (n.1302+10C=) c.1350+10C= (n.1350+10C=) c.1101+10C= (n.1101+10C=) | |
2 | g.219425755C>T | CA539843258 | DES | n.845+10C>T n.759+10C>T c.1371+10C>T (n.1371+10C>T) n.226+10C>T c.1368+10C>T (n.1368+10C>T) c.939+10C>T (n.939+10C>T) c.1302+10C>T (n.1302+10C>T) c.1350+10C>T (n.1350+10C>T) c.1101+10C>T (n.1101+10C>T) | dbSNP gnomAD v2 |
2 | g.219425756T>G | CA2577252685 | DES | n.845+11T>G n.759+11T>G c.1371+11T>G (n.1371+11T>G) n.226+11T>G c.1368+11T>G (n.1368+11T>G) c.939+11T>G (n.939+11T>G) c.1302+11T>G (n.1302+11T>G) c.1350+11T>G (n.1350+11T>G) c.1101+11T>G (n.1101+11T>G) | |
2 | g.219425757G>A | CA539843259 | DES | n.845+12G>A n.759+12G>A c.1371+12G>A (n.1371+12G>A) n.226+12G>A c.1368+12G>A (n.1368+12G>A) c.939+12G>A (n.939+12G>A) c.1302+12G>A (n.1302+12G>A) c.1350+12G>A (n.1350+12G>A) c.1101+12G>A (n.1101+12G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219425757G= | CA1329213146 | DES | n.845+12G= n.759+12G= c.1371+12G= (n.1371+12G=) n.226+12G= c.1368+12G= (n.1368+12G=) c.939+12G= (n.939+12G=) c.1302+12G= (n.1302+12G=) c.1350+12G= (n.1350+12G=) c.1101+12G= (n.1101+12G=) | |
2 | g.219425758T>G | CA2573135393 | DES | n.845+13T>G n.759+13T>G c.1371+13T>G (n.1371+13T>G) n.226+13T>G c.1368+13T>G (n.1368+13T>G) c.939+13T>G (n.939+13T>G) c.1302+13T>G (n.1302+13T>G) c.1350+13T>G (n.1350+13T>G) c.1101+13T>G (n.1101+13T>G) | ClinVar dbSNP gnomAD v4 |
2 | g.219425763G>A | CA2663252193 | DES | n.845+18G>A n.759+18G>A c.1371+18G>A (n.1371+18G>A) n.226+18G>A c.1368+18G>A (n.1368+18G>A) c.939+18G>A (n.939+18G>A) c.1302+18G>A (n.1302+18G>A) c.1350+18G>A (n.1350+18G>A) c.1101+18G>A (n.1101+18G>A) | gnomAD v4 |
2 | g.219425763G>T | CA2663252192 | DES | n.845+18G>T n.759+18G>T c.1371+18G>T (n.1371+18G>T) n.226+18G>T c.1368+18G>T (n.1368+18G>T) c.939+18G>T (n.939+18G>T) c.1302+18G>T (n.1302+18G>T) c.1350+18G>T (n.1350+18G>T) c.1101+18G>T (n.1101+18G>T) | gnomAD v4 |