Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11422769C>A | CA404120261 | ODAD3 | c.1209G>T (p.Lys403Asn) c.636G>T (p.Lys212Asn) c.1029G>T (p.Lys343Asn) c.*1128G>T (n.*1128G>T) c.1047G>T (p.Lys349Asn) | |
19 | g.11422769C>G | CA404120262 | ODAD3 | c.1209G>C (p.Lys403Asn) c.636G>C (p.Lys212Asn) c.1029G>C (p.Lys343Asn) c.*1128G>C (n.*1128G>C) c.1047G>C (p.Lys349Asn) | |
19 | g.11422769C>T | CA505749486 | ODAD3 | c.1209G>A (p.Lys403=) c.636G>A (p.Lys212=) c.1029G>A (p.Lys343=) c.*1128G>A (n.*1128G>A) c.1047G>A (p.Lys349=) | gnomAD v4 |
19 | g.11422770T>A | CA404120264 | ODAD3 | c.1208A>T (p.Lys403Met) c.635A>T (p.Lys212Met) c.1028A>T (p.Lys343Met) c.*1127A>T (n.*1127A>T) c.1046A>T (p.Lys349Met) | |
19 | g.11422770T>C | CA404120266 | ODAD3 | c.1208A>G (p.Lys403Arg) c.635A>G (p.Lys212Arg) c.1028A>G (p.Lys343Arg) c.*1127A>G (n.*1127A>G) c.1046A>G (p.Lys349Arg) | |
19 | g.11422770T>G | CA404120268 | ODAD3 | c.1208A>C (p.Lys403Thr) c.635A>C (p.Lys212Thr) c.1028A>C (p.Lys343Thr) c.*1127A>C (n.*1127A>C) c.1046A>C (p.Lys349Thr) | |
19 | g.11422771T>A | CA404120269 | ODAD3 | c.1207A>T (p.Lys403Ter) c.634A>T (p.Lys212Ter) c.1027A>T (p.Lys343Ter) c.*1126A>T (n.*1126A>T) c.1045A>T (p.Lys349Ter) | |
19 | g.11422771T>C | CA404120270 | ODAD3 | c.1207A>G (p.Lys403Glu) c.634A>G (p.Lys212Glu) c.1027A>G (p.Lys343Glu) c.*1126A>G (n.*1126A>G) c.1045A>G (p.Lys349Glu) | |
19 | g.11422771T>G | CA404120271 | ODAD3 | c.1207A>C (p.Lys403Gln) c.634A>C (p.Lys212Gln) c.1027A>C (p.Lys343Gln) c.*1126A>C (n.*1126A>C) c.1045A>C (p.Lys349Gln) | |
19 | g.11422772C>A | CA505749487 | ODAD3 | c.1206G>T (p.Leu402=) c.633G>T (p.Leu211=) c.1026G>T (p.Leu342=) c.*1125G>T (n.*1125G>T) c.1044G>T (p.Leu348=) | |
19 | g.11422772C>G | CA505749489 | ODAD3 | c.1206G>C (p.Leu402=) c.633G>C (p.Leu211=) c.1026G>C (p.Leu342=) c.*1125G>C (n.*1125G>C) c.1044G>C (p.Leu348=) | |
19 | g.11422772C>T | CA505749488 | ODAD3 | c.1206G>A (p.Leu402=) c.633G>A (p.Leu211=) c.1026G>A (p.Leu342=) c.*1125G>A (n.*1125G>A) c.1044G>A (p.Leu348=) | gnomAD v4 |
19 | g.11422773A>C | CA404120272 | ODAD3 | c.1205T>G (p.Leu402Arg) c.632T>G (p.Leu211Arg) c.1025T>G (p.Leu342Arg) c.*1124T>G (n.*1124T>G) c.1043T>G (p.Leu348Arg) | |
19 | g.11422773A>G | CA404120273 | ODAD3 | c.1205T>C (p.Leu402Pro) c.632T>C (p.Leu211Pro) c.1025T>C (p.Leu342Pro) c.*1124T>C (n.*1124T>C) c.1043T>C (p.Leu348Pro) | |
19 | g.11422773A>T | CA404120275 | ODAD3 | c.1205T>A (p.Leu402Gln) c.632T>A (p.Leu211Gln) c.1025T>A (p.Leu342Gln) c.*1124T>A (n.*1124T>A) c.1043T>A (p.Leu348Gln) | COSMIC |
19 | g.11422774G>A | CA9212085 | ODAD3 | c.1204C>T (p.Leu402=) c.631C>T (p.Leu211=) c.1024C>T (p.Leu342=) c.*1123C>T (n.*1123C>T) c.1042C>T (p.Leu348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422774G>C | CA404120279 | ODAD3 | c.1204C>G (p.Leu402Val) c.631C>G (p.Leu211Val) c.1024C>G (p.Leu342Val) c.*1123C>G (n.*1123C>G) c.1042C>G (p.Leu348Val) | |
19 | g.11422774G= | CA2322925008 | ODAD3 | c.1204C= (p.Leu402=) c.631C= (p.Leu211=) c.1024C= (p.Leu342=) c.*1123C= (n.*1123C=) c.1042C= (p.Leu348=) | |
19 | g.11422774G>T | CA404120280 | ODAD3 | c.1204C>A (p.Leu402Met) c.631C>A (p.Leu211Met) c.1024C>A (p.Leu342Met) c.*1123C>A (n.*1123C>A) c.1042C>A (p.Leu348Met) | gnomAD v4 |
19 | g.11422777_11422851del | CA2582529235 | ODAD3 | c.1130_1204del (p.Arg377_Arg401del) c.557_631del (p.Arg186_Arg210del) c.950_1024del (p.Arg317_Arg341del) c.*1049_*1123del (n.*1049_*1123del) c.968_1042del (p.Arg323_Arg347del) | gnomAD v4 |
19 | g.11422775C>A | CA404120282 | ODAD3 | c.1203G>T (p.Arg401Ser) c.630G>T (p.Arg210Ser) c.1023G>T (p.Arg341Ser) c.*1122G>T (n.*1122G>T) c.1041G>T (p.Arg347Ser) | |
19 | g.11422775C= | CA2322925009 | ODAD3 | c.1203G= (p.Arg401=) c.630G= (p.Arg210=) c.1023G= (p.Arg341=) c.*1122G= (n.*1122G=) c.1041G= (p.Arg347=) | |
19 | g.11422775C>G | CA404120284 | ODAD3 | c.1203G>C (p.Arg401Ser) c.630G>C (p.Arg210Ser) c.1023G>C (p.Arg341Ser) c.*1122G>C (n.*1122G>C) c.1041G>C (p.Arg347Ser) | |
19 | g.11422775C>T | CA9212086 | ODAD3 | c.1203G>A (p.Arg401=) c.630G>A (p.Arg210=) c.1023G>A (p.Arg341=) c.*1122G>A (n.*1122G>A) c.1041G>A (p.Arg347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422776C>A | CA404120287 | ODAD3 | c.1202G>T (p.Arg401Met) c.629G>T (p.Arg210Met) c.1022G>T (p.Arg341Met) c.*1121G>T (n.*1121G>T) c.1040G>T (p.Arg347Met) | |
19 | g.11422776C>G | CA404120289 | ODAD3 | c.1202G>C (p.Arg401Thr) c.629G>C (p.Arg210Thr) c.1022G>C (p.Arg341Thr) c.*1121G>C (n.*1121G>C) c.1040G>C (p.Arg347Thr) | COSMIC |
19 | g.11422776C>T | CA404120288 | ODAD3 | c.1202G>A (p.Arg401Lys) c.629G>A (p.Arg210Lys) c.1022G>A (p.Arg341Lys) c.*1121G>A (n.*1121G>A) c.1040G>A (p.Arg347Lys) | |
19 | g.11422777T>A | CA404120290 | ODAD3 | c.1201A>T (p.Arg401Trp) c.628A>T (p.Arg210Trp) c.1021A>T (p.Arg341Trp) c.*1120A>T (n.*1120A>T) c.1039A>T (p.Arg347Trp) | gnomAD v4 |
19 | g.11422777T>C | CA404120291 | ODAD3 | c.1201A>G (p.Arg401Gly) c.628A>G (p.Arg210Gly) c.1021A>G (p.Arg341Gly) c.*1120A>G (n.*1120A>G) c.1039A>G (p.Arg347Gly) | |
19 | g.11422777T>G | CA505749490 | ODAD3 | c.1201A>C (p.Arg401=) c.628A>C (p.Arg210=) c.1021A>C (p.Arg341=) c.*1120A>C (n.*1120A>C) c.1039A>C (p.Arg347=) | |
19 | g.11422777_11422779delinsTCA | CA2322925010 | ODAD3 | c.1199_1201delinsTGA (p.Val400=) c.626_628delinsTGA (p.Val209=) c.1019_1021delinsTGA (p.Val340=) c.*1118_*1120delinsTGA (n.*1118_*1120delinsTGA) c.1037_1039delinsTGA (p.Val346=) | |
19 | g.11422778C>A | CA505749491 | ODAD3 | c.1200G>T (p.Val400=) c.627G>T (p.Val209=) c.1020G>T (p.Val340=) c.*1119G>T (n.*1119G>T) c.1038G>T (p.Val346=) c.*94G>T (n.*94G>T) | |
19 | g.11422778C= | CA2322925012 | ODAD3 | c.1200G= (p.Val400=) c.627G= (p.Val209=) c.1020G= (p.Val340=) c.*1119G= (n.*1119G=) c.1038G= (p.Val346=) c.*94G= (n.*94G=) | |
19 | g.11422778C>G | CA505749492 | ODAD3 | c.1200G>C (p.Val400=) c.627G>C (p.Val209=) c.1020G>C (p.Val340=) c.*1119G>C (n.*1119G>C) c.1038G>C (p.Val346=) c.*94G>C (n.*94G>C) | |
19 | g.11422778C>T | CA505749493 | ODAD3 | c.1200G>A (p.Val400=) c.627G>A (p.Val209=) c.1020G>A (p.Val340=) c.*1119G>A (n.*1119G>A) c.1038G>A (p.Val346=) c.*94G>A (n.*94G>A) | dbSNP |
19 | g.11422779_11422780del | CA2322925011 | ODAD3 | c.1199_1200del (p.Val400GlufsTer?) c.626_627del (p.Val209GlufsTer?) c.1019_1020del (p.Val340GlufsTer?) c.*1118_*1119del (n.*1118_*1119del) c.1037_1038del (p.Val346GlufsTer?) c.*93_*94del (n.*93_*94del) | dbSNP |
19 | g.11422779A>C | CA404120293 | ODAD3 | c.1199T>G (p.Val400Gly) c.626T>G (p.Val209Gly) c.1019T>G (p.Val340Gly) c.*1118T>G (n.*1118T>G) c.1037T>G (p.Val346Gly) c.*93T>G (n.*93T>G) | |
19 | g.11422779A>G | CA404120295 | ODAD3 | c.1199T>C (p.Val400Ala) c.626T>C (p.Val209Ala) c.1019T>C (p.Val340Ala) c.*1118T>C (n.*1118T>C) c.1037T>C (p.Val346Ala) c.*93T>C (n.*93T>C) | |
19 | g.11422779A>T | CA404120296 | ODAD3 | c.1199T>A (p.Val400Glu) c.626T>A (p.Val209Glu) c.1019T>A (p.Val340Glu) c.*1118T>A (n.*1118T>A) c.1037T>A (p.Val346Glu) c.*93T>A (n.*93T>A) | |
19 | g.11422780C>A | CA404120299 | ODAD3 | c.1198G>T (p.Val400Leu) c.625G>T (p.Val209Leu) c.1018G>T (p.Val340Leu) c.*1117G>T (n.*1117G>T) c.1036G>T (p.Val346Leu) c.*92G>T (n.*92G>T) | |
19 | g.11422780C>G | CA404120300 | ODAD3 | c.1198G>C (p.Val400Leu) c.625G>C (p.Val209Leu) c.1018G>C (p.Val340Leu) c.*1117G>C (n.*1117G>C) c.1036G>C (p.Val346Leu) c.*92G>C (n.*92G>C) | |
19 | g.11422780C>T | CA404120301 | ODAD3 | c.1198G>A (p.Val400Met) c.625G>A (p.Val209Met) c.1018G>A (p.Val340Met) c.*1117G>A (n.*1117G>A) c.1036G>A (p.Val346Met) c.*92G>A (n.*92G>A) | |
19 | g.11422781C>A | CA404120303 | ODAD3 | c.1197G>T (p.Leu399Phe) c.624G>T (p.Leu208Phe) c.1017G>T (p.Leu339Phe) c.*1116G>T (n.*1116G>T) c.1035G>T (p.Leu345Phe) c.*91G>T (n.*91G>T) | |
19 | g.11422781C= | CA2322925013 | ODAD3 | c.1197G= (p.Leu399=) c.624G= (p.Leu208=) c.1017G= (p.Leu339=) c.*1116G= (n.*1116G=) c.1035G= (p.Leu345=) c.*91G= (n.*91G=) | |
19 | g.11422781C>G | CA404120305 | ODAD3 | c.1197G>C (p.Leu399Phe) c.624G>C (p.Leu208Phe) c.1017G>C (p.Leu339Phe) c.*1116G>C (n.*1116G>C) c.1035G>C (p.Leu345Phe) c.*91G>C (n.*91G>C) | |
19 | g.11422781C>T | CA505749494 | ODAD3 | c.1197G>A (p.Leu399=) c.624G>A (p.Leu208=) c.1017G>A (p.Leu339=) c.*1116G>A (n.*1116G>A) c.1035G>A (p.Leu345=) c.*91G>A (n.*91G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11422782A= | CA2322925014 | ODAD3 | c.1196T= (p.Leu399=) c.623T= (p.Leu208=) c.1016T= (p.Leu339=) c.*1115T= (n.*1115T=) c.1034T= (p.Leu345=) c.*90T= (n.*90T=) | |
19 | g.11422782A>C | CA404120307 | ODAD3 | c.1196T>G (p.Leu399Trp) c.623T>G (p.Leu208Trp) c.1016T>G (p.Leu339Trp) c.*1115T>G (n.*1115T>G) c.1034T>G (p.Leu345Trp) c.*90T>G (n.*90T>G) | ClinVar dbSNP gnomAD v4 |
19 | g.11422782A>G | CA404120308 | ODAD3 | c.1196T>C (p.Leu399Ser) c.623T>C (p.Leu208Ser) c.1016T>C (p.Leu339Ser) c.*1115T>C (n.*1115T>C) c.1034T>C (p.Leu345Ser) c.*90T>C (n.*90T>C) | gnomAD v4 |
19 | g.11422782A>T | CA404120310 | ODAD3 | c.1196T>A (p.Leu399Ter) c.623T>A (p.Leu208Ter) c.1016T>A (p.Leu339Ter) c.*1115T>A (n.*1115T>A) c.1034T>A (p.Leu345Ter) c.*90T>A (n.*90T>A) | |
19 | g.11422783A= | CA2322925015 | ODAD3 | c.1195T= (p.Leu399=) c.622T= (p.Leu208=) c.1015T= (p.Leu339=) c.*1114T= (n.*1114T=) c.1033T= (p.Leu345=) c.*89T= (n.*89T=) | |
19 | g.11422783A>C | CA404120311 | ODAD3 | c.1195T>G (p.Leu399Val) c.622T>G (p.Leu208Val) c.1015T>G (p.Leu339Val) c.*1114T>G (n.*1114T>G) c.1033T>G (p.Leu345Val) c.*89T>G (n.*89T>G) | |
19 | g.11422783A>G | CA505749495 | ODAD3 | c.1195T>C (p.Leu399=) c.622T>C (p.Leu208=) c.1015T>C (p.Leu339=) c.*1114T>C (n.*1114T>C) c.1033T>C (p.Leu345=) c.*89T>C (n.*89T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.11422783A>T | CA404120313 | ODAD3 | c.1195T>A (p.Leu399Met) c.622T>A (p.Leu208Met) c.1015T>A (p.Leu339Met) c.*1114T>A (n.*1114T>A) c.1033T>A (p.Leu345Met) c.*89T>A (n.*89T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11422784C>A | CA505749496 | ODAD3 | c.1194G>T (p.Thr398=) c.621G>T (p.Thr207=) c.1014G>T (p.Thr338=) c.*1113G>T (n.*1113G>T) c.1032G>T (p.Thr344=) c.*88G>T (n.*88G>T) | |
19 | g.11422784C= | CA2322925016 | ODAD3 | c.1194G= (p.Thr398=) c.621G= (p.Thr207=) c.1014G= (p.Thr338=) c.*1113G= (n.*1113G=) c.1032G= (p.Thr344=) c.*88G= (n.*88G=) | |
19 | g.11422784C>G | CA9212087 | ODAD3 | c.1194G>C (p.Thr398=) c.621G>C (p.Thr207=) c.1014G>C (p.Thr338=) c.*1113G>C (n.*1113G>C) c.1032G>C (p.Thr344=) c.*88G>C (n.*88G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422784C>T | CA505749497 | ODAD3 | c.1194G>A (p.Thr398=) c.621G>A (p.Thr207=) c.1014G>A (p.Thr338=) c.*1113G>A (n.*1113G>A) c.1032G>A (p.Thr344=) c.*88G>A (n.*88G>A) | dbSNP |
19 | g.11422785G>A | CA404120315 | ODAD3 | c.1193C>T (p.Thr398Met) c.620C>T (p.Thr207Met) c.1013C>T (p.Thr338Met) c.*1112C>T (n.*1112C>T) c.1031C>T (p.Thr344Met) c.*87C>T (n.*87C>T) | gnomAD v4 |
19 | g.11422785G>C | CA404120316 | ODAD3 | c.1193C>G (p.Thr398Arg) c.620C>G (p.Thr207Arg) c.1013C>G (p.Thr338Arg) c.*1112C>G (n.*1112C>G) c.1031C>G (p.Thr344Arg) c.*87C>G (n.*87C>G) | gnomAD v4 |
19 | g.11422785G= | CA2322925017 | ODAD3 | c.1193C= (p.Thr398=) c.620C= (p.Thr207=) c.1013C= (p.Thr338=) c.*1112C= (n.*1112C=) c.1031C= (p.Thr344=) c.*87C= (n.*87C=) | |
19 | g.11422785G>T | CA9212088 | ODAD3 | c.1193C>A (p.Thr398Lys) c.620C>A (p.Thr207Lys) c.1013C>A (p.Thr338Lys) c.*1112C>A (n.*1112C>A) c.1031C>A (p.Thr344Lys) c.*87C>A (n.*87C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422786_11422789dup | CA783271450 | ODAD3 | c.1190_1193dup (p.Leu399AspfsTer?) c.617_620dup (p.Leu208AspfsTer?) c.1010_1013dup (p.Leu339AspfsTer?) c.*1109_*1112dup (n.*1109_*1112dup) c.1028_1031dup (p.Leu345AspfsTer?) c.*84_*87dup (n.*84_*87dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11422786T>A | CA404120317 | ODAD3 | c.1192A>T (p.Thr398Ser) c.619A>T (p.Thr207Ser) c.1012A>T (p.Thr338Ser) c.*1111A>T (n.*1111A>T) c.1030A>T (p.Thr344Ser) c.*86A>T (n.*86A>T) | |
19 | g.11422786T>C | CA404120319 | ODAD3 | c.1192A>G (p.Thr398Ala) c.619A>G (p.Thr207Ala) c.1012A>G (p.Thr338Ala) c.*1111A>G (n.*1111A>G) c.1030A>G (p.Thr344Ala) c.*86A>G (n.*86A>G) | |
19 | g.11422786T>G | CA404120320 | ODAD3 | c.1192A>C (p.Thr398Pro) c.619A>C (p.Thr207Pro) c.1012A>C (p.Thr338Pro) c.*1111A>C (n.*1111A>C) c.1030A>C (p.Thr344Pro) c.*86A>C (n.*86A>C) | |
19 | g.11422787C>A | CA404120322 | ODAD3 | c.1191G>T (p.Gln397His) c.618G>T (p.Gln206His) c.1011G>T (p.Gln337His) c.*1110G>T (n.*1110G>T) c.1029G>T (p.Gln343His) c.*85G>T (n.*85G>T) | |
19 | g.11422787C= | CA2322925018 | ODAD3 | c.1191G= (p.Gln397=) c.618G= (p.Gln206=) c.1011G= (p.Gln337=) c.*1110G= (n.*1110G=) c.1029G= (p.Gln343=) c.*85G= (n.*85G=) | |
19 | g.11422787C>G | CA404120323 | ODAD3 | c.1191G>C (p.Gln397His) c.618G>C (p.Gln206His) c.1011G>C (p.Gln337His) c.*1110G>C (n.*1110G>C) c.1029G>C (p.Gln343His) c.*85G>C (n.*85G>C) | |
19 | g.11422787C>T | CA9212089 | ODAD3 | c.1191G>A (p.Gln397=) c.618G>A (p.Gln206=) c.1011G>A (p.Gln337=) c.*1110G>A (n.*1110G>A) c.1029G>A (p.Gln343=) c.*85G>A (n.*85G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422788T>A | CA404120326 | ODAD3 | c.1190A>T (p.Gln397Leu) c.617A>T (p.Gln206Leu) c.1010A>T (p.Gln337Leu) c.*1109A>T (n.*1109A>T) c.1028A>T (p.Gln343Leu) c.*84A>T (n.*84A>T) | |
19 | g.11422788T>C | CA404120327 | ODAD3 | c.1190A>G (p.Gln397Arg) c.617A>G (p.Gln206Arg) c.1010A>G (p.Gln337Arg) c.*1109A>G (n.*1109A>G) c.1028A>G (p.Gln343Arg) c.*84A>G (n.*84A>G) | |
19 | g.11422788T>G | CA404120329 | ODAD3 | c.1190A>C (p.Gln397Pro) c.617A>C (p.Gln206Pro) c.1010A>C (p.Gln337Pro) c.*1109A>C (n.*1109A>C) c.1028A>C (p.Gln343Pro) c.*84A>C (n.*84A>C) | |
19 | g.11422789G>A | CA404120335 | ODAD3 | c.1189C>T (p.Gln397Ter) c.616C>T (p.Gln206Ter) c.1009C>T (p.Gln337Ter) c.*1108C>T (n.*1108C>T) c.1027C>T (p.Gln343Ter) c.*83C>T (n.*83C>T) | |
19 | g.11422789G>C | CA9212090 | ODAD3 | c.1189C>G (p.Gln397Glu) c.616C>G (p.Gln206Glu) c.1009C>G (p.Gln337Glu) c.*1108C>G (n.*1108C>G) c.1027C>G (p.Gln343Glu) c.*83C>G (n.*83C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422789G= | CA2322925019 | ODAD3 | c.1189C= (p.Gln397=) c.616C= (p.Gln206=) c.1009C= (p.Gln337=) c.*1108C= (n.*1108C=) c.1027C= (p.Gln343=) c.*83C= (n.*83C=) | |
19 | g.11422789G>T | CA404120332 | ODAD3 | c.1189C>A (p.Gln397Lys) c.616C>A (p.Gln206Lys) c.1009C>A (p.Gln337Lys) c.*1108C>A (n.*1108C>A) c.1027C>A (p.Gln343Lys) c.*83C>A (n.*83C>A) | gnomAD v4 |
19 | g.11422790C>A | CA404120337 | ODAD3 | c.1188G>T (p.Glu396Asp) c.615G>T (p.Glu205Asp) c.1008G>T (p.Glu336Asp) c.*1107G>T (n.*1107G>T) c.1026G>T (p.Glu342Asp) c.*82G>T (n.*82G>T) | |
19 | g.11422790C>G | CA404120338 | ODAD3 | c.1188G>C (p.Glu396Asp) c.615G>C (p.Glu205Asp) c.1008G>C (p.Glu336Asp) c.*1107G>C (n.*1107G>C) c.1026G>C (p.Glu342Asp) c.*82G>C (n.*82G>C) | |
19 | g.11422790C>T | CA505749498 | ODAD3 | c.1188G>A (p.Glu396=) c.615G>A (p.Glu205=) c.1008G>A (p.Glu336=) c.*1107G>A (n.*1107G>A) c.1026G>A (p.Glu342=) c.*82G>A (n.*82G>A) | gnomAD v4 |
19 | g.11422791T>A | CA404120340 | ODAD3 | c.1187A>T (p.Glu396Val) c.614A>T (p.Glu205Val) c.1007A>T (p.Glu336Val) c.*1106A>T (n.*1106A>T) c.1025A>T (p.Glu342Val) c.*81A>T (n.*81A>T) | |
19 | g.11422791T>C | CA404120342 | ODAD3 | c.1187A>G (p.Glu396Gly) c.614A>G (p.Glu205Gly) c.1007A>G (p.Glu336Gly) c.*1106A>G (n.*1106A>G) c.1025A>G (p.Glu342Gly) c.*81A>G (n.*81A>G) | |
19 | g.11422791T>G | CA404120344 | ODAD3 | c.1187A>C (p.Glu396Ala) c.614A>C (p.Glu205Ala) c.1007A>C (p.Glu336Ala) c.*1106A>C (n.*1106A>C) c.1025A>C (p.Glu342Ala) c.*81A>C (n.*81A>C) | |
19 | g.11422792C>A | CA9212093 | ODAD3 | c.1186G>T (p.Glu396Ter) c.613G>T (p.Glu205Ter) c.1006G>T (p.Glu336Ter) c.*1105G>T (n.*1105G>T) c.1024G>T (p.Glu342Ter) c.*80G>T (n.*80G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422792C= | CA2322925020 | ODAD3 | c.1186G= (p.Glu396=) c.613G= (p.Glu205=) c.1006G= (p.Glu336=) c.*1105G= (n.*1105G=) c.1024G= (p.Glu342=) c.*80G= (n.*80G=) | |
19 | g.11422792C>G | CA9212091 | ODAD3 | c.1186G>C (p.Glu396Gln) c.613G>C (p.Glu205Gln) c.1006G>C (p.Glu336Gln) c.*1105G>C (n.*1105G>C) c.1024G>C (p.Glu342Gln) c.*80G>C (n.*80G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422792C>T | CA9212092 | ODAD3 | c.1186G>A (p.Glu396Lys) c.613G>A (p.Glu205Lys) c.1006G>A (p.Glu336Lys) c.*1105G>A (n.*1105G>A) c.1024G>A (p.Glu342Lys) c.*80G>A (n.*80G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422792_11422793delinsCG | CA2322925021 | ODAD3 | c.1185_1186delinsCG (p.Asn395=) c.612_613delinsCG (p.Asn204=) c.1005_1006delinsCG (p.Asn335=) c.*1104_*1105delinsCG (n.*1104_*1105delinsCG) c.1023_1024delinsCG (p.Asn341=) c.*79_*80delinsCG (n.*79_*80delinsCG) | |
19 | g.11422793del | CA783271463 | ODAD3 | c.1185del (p.Asn395LysfsTer6) c.612del (p.Asn204LysfsTer6) c.1005del (p.Asn335LysfsTer6) c.*1104del (n.*1104del) c.1023del (p.Asn341LysfsTer6) c.*79del (n.*79del) | dbSNP |
19 | g.11422793G>A | CA505749499 | ODAD3 | c.1185C>T (p.Asn395=) c.612C>T (p.Asn204=) c.1005C>T (p.Asn335=) c.*1104C>T (n.*1104C>T) c.1023C>T (p.Asn341=) c.*79C>T (n.*79C>T) | ClinVar dbSNP gnomAD v4 |
19 | g.11422793G>C | CA404120347 | ODAD3 | c.1185C>G (p.Asn395Lys) c.612C>G (p.Asn204Lys) c.1005C>G (p.Asn335Lys) c.*1104C>G (n.*1104C>G) c.1023C>G (p.Asn341Lys) c.*79C>G (n.*79C>G) | |
19 | g.11422793G= | CA2322925022 | ODAD3 | c.1185C= (p.Asn395=) c.612C= (p.Asn204=) c.1005C= (p.Asn335=) c.*1104C= (n.*1104C=) c.1023C= (p.Asn341=) c.*79C= (n.*79C=) | |
19 | g.11422793G>T | CA404120348 | ODAD3 | c.1185C>A (p.Asn395Lys) c.612C>A (p.Asn204Lys) c.1005C>A (p.Asn335Lys) c.*1104C>A (n.*1104C>A) c.1023C>A (p.Asn341Lys) c.*79C>A (n.*79C>A) | |
19 | g.11422794T>A | CA404120351 | ODAD3 | c.1184A>T (p.Asn395Ile) c.611A>T (p.Asn204Ile) c.1004A>T (p.Asn335Ile) c.*1103A>T (n.*1103A>T) c.1022A>T (p.Asn341Ile) c.*78A>T (n.*78A>T) | |
19 | g.11422794T>C | CA404120352 | ODAD3 | c.1184A>G (p.Asn395Ser) c.611A>G (p.Asn204Ser) c.1004A>G (p.Asn335Ser) c.*1103A>G (n.*1103A>G) c.1022A>G (p.Asn341Ser) c.*78A>G (n.*78A>G) | |
19 | g.11422794T>G | CA404120354 | ODAD3 | c.1184A>C (p.Asn395Thr) c.611A>C (p.Asn204Thr) c.1004A>C (p.Asn335Thr) c.*1103A>C (n.*1103A>C) c.1022A>C (p.Asn341Thr) c.*78A>C (n.*78A>C) | |
19 | g.11422795T>A | CA404120355 | ODAD3 | c.1183A>T (p.Asn395Tyr) c.610A>T (p.Asn204Tyr) c.1003A>T (p.Asn335Tyr) c.*1102A>T (n.*1102A>T) c.1021A>T (p.Asn341Tyr) c.*77A>T (n.*77A>T) | |
19 | g.11422795T>C | CA404120358 | ODAD3 | c.1183A>G (p.Asn395Asp) c.610A>G (p.Asn204Asp) c.1003A>G (p.Asn335Asp) c.*1102A>G (n.*1102A>G) c.1021A>G (p.Asn341Asp) c.*77A>G (n.*77A>G) | |
19 | g.11422795T>G | CA404120356 | ODAD3 | c.1183A>C (p.Asn395His) c.610A>C (p.Asn204His) c.1003A>C (p.Asn335His) c.*1102A>C (n.*1102A>C) c.1021A>C (p.Asn341His) c.*77A>C (n.*77A>C) | |
19 | g.11422796C>A | CA404120360 | ODAD3 | c.1182G>T (p.Glu394Asp) c.609G>T (p.Glu203Asp) c.1002G>T (p.Glu334Asp) c.*1101G>T (n.*1101G>T) c.1020G>T (p.Glu340Asp) c.*76G>T (n.*76G>T) | |
19 | g.11422796C>G | CA404120361 | ODAD3 | c.1182G>C (p.Glu394Asp) c.609G>C (p.Glu203Asp) c.1002G>C (p.Glu334Asp) c.*1101G>C (n.*1101G>C) c.1020G>C (p.Glu340Asp) c.*76G>C (n.*76G>C) | |
19 | g.11422796C>T | CA505749500 | ODAD3 | c.1182G>A (p.Glu394=) c.609G>A (p.Glu203=) c.1002G>A (p.Glu334=) c.*1101G>A (n.*1101G>A) c.1020G>A (p.Glu340=) c.*76G>A (n.*76G>A) | gnomAD v4 |
19 | g.11422797T>A | CA404120362 | ODAD3 | c.1181A>T (p.Glu394Val) c.608A>T (p.Glu203Val) c.1001A>T (p.Glu334Val) c.*1100A>T (n.*1100A>T) c.1019A>T (p.Glu340Val) c.*75A>T (n.*75A>T) | |
19 | g.11422797T>C | CA404120364 | ODAD3 | c.1181A>G (p.Glu394Gly) c.608A>G (p.Glu203Gly) c.1001A>G (p.Glu334Gly) c.*1100A>G (n.*1100A>G) c.1019A>G (p.Glu340Gly) c.*75A>G (n.*75A>G) | |
19 | g.11422797T>G | CA404120365 | ODAD3 | c.1181A>C (p.Glu394Ala) c.608A>C (p.Glu203Ala) c.1001A>C (p.Glu334Ala) c.*1100A>C (n.*1100A>C) c.1019A>C (p.Glu340Ala) c.*75A>C (n.*75A>C) | |
19 | g.11422798C>A | CA9212094 | ODAD3 | c.1180G>T (p.Glu394Ter) c.607G>T (p.Glu203Ter) c.1000G>T (p.Glu334Ter) c.*1099G>T (n.*1099G>T) c.1018G>T (p.Glu340Ter) c.*74G>T (n.*74G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422798C= | CA2322925023 | ODAD3 | c.1180G= (p.Glu394=) c.607G= (p.Glu203=) c.1000G= (p.Glu334=) c.*1099G= (n.*1099G=) c.1018G= (p.Glu340=) c.*74G= (n.*74G=) | |
19 | g.11422798C>G | CA404120367 | ODAD3 | c.1180G>C (p.Glu394Gln) c.607G>C (p.Glu203Gln) c.1000G>C (p.Glu334Gln) c.*1099G>C (n.*1099G>C) c.1018G>C (p.Glu340Gln) c.*74G>C (n.*74G>C) | |
19 | g.11422798C>T | CA404120369 | ODAD3 | c.1180G>A (p.Glu394Lys) c.607G>A (p.Glu203Lys) c.1000G>A (p.Glu334Lys) c.*1099G>A (n.*1099G>A) c.1018G>A (p.Glu340Lys) c.*74G>A (n.*74G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11422799G>A | CA505749501 | ODAD3 | c.1179C>T (p.Ser393=) c.606C>T (p.Ser202=) c.999C>T (p.Ser333=) c.*1098C>T (n.*1098C>T) c.1017C>T (p.Ser339=) c.*73C>T (n.*73C>T) | |
19 | g.11422799G>C | CA404120371 | ODAD3 | c.1179C>G (p.Ser393Arg) c.606C>G (p.Ser202Arg) c.999C>G (p.Ser333Arg) c.*1098C>G (n.*1098C>G) c.1017C>G (p.Ser339Arg) c.*73C>G (n.*73C>G) | |
19 | g.11422799G>T | CA404120373 | ODAD3 | c.1179C>A (p.Ser393Arg) c.606C>A (p.Ser202Arg) c.999C>A (p.Ser333Arg) c.*1098C>A (n.*1098C>A) c.1017C>A (p.Ser339Arg) c.*73C>A (n.*73C>A) | gnomAD v4 |
19 | g.11422800C>A | CA404120378 | ODAD3 | c.1178G>T (p.Ser393Ile) c.605G>T (p.Ser202Ile) c.998G>T (p.Ser333Ile) c.*1097G>T (n.*1097G>T) c.1016G>T (p.Ser339Ile) c.*72G>T (n.*72G>T) | |
19 | g.11422800C= | CA2322925024 | ODAD3 | c.1178G= (p.Ser393=) c.605G= (p.Ser202=) c.998G= (p.Ser333=) c.*1097G= (n.*1097G=) c.1016G= (p.Ser339=) c.*72G= (n.*72G=) | |
19 | g.11422800C>G | CA404120376 | ODAD3 | c.1178G>C (p.Ser393Thr) c.605G>C (p.Ser202Thr) c.998G>C (p.Ser333Thr) c.*1097G>C (n.*1097G>C) c.1016G>C (p.Ser339Thr) c.*72G>C (n.*72G>C) | |
19 | g.11422800C>T | CA9212095 | ODAD3 | c.1178G>A (p.Ser393Asn) c.605G>A (p.Ser202Asn) c.998G>A (p.Ser333Asn) c.*1097G>A (n.*1097G>A) c.1016G>A (p.Ser339Asn) c.*72G>A (n.*72G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422801T>A | CA9212096 | ODAD3 | c.1177A>T (p.Ser393Cys) c.604A>T (p.Ser202Cys) c.997A>T (p.Ser333Cys) c.*1096A>T (n.*1096A>T) c.1015A>T (p.Ser339Cys) c.*71A>T (n.*71A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422801T>C | CA404120382 | ODAD3 | c.1177A>G (p.Ser393Gly) c.604A>G (p.Ser202Gly) c.997A>G (p.Ser333Gly) c.*1096A>G (n.*1096A>G) c.1015A>G (p.Ser339Gly) c.*71A>G (n.*71A>G) | dbSNP |
19 | g.11422801T>G | CA404120380 | ODAD3 | c.1177A>C (p.Ser393Arg) c.604A>C (p.Ser202Arg) c.997A>C (p.Ser333Arg) c.*1096A>C (n.*1096A>C) c.1015A>C (p.Ser339Arg) c.*71A>C (n.*71A>C) | |
19 | g.11422801T= | CA2322925025 | ODAD3 | c.1177A= (p.Ser393=) c.604A= (p.Ser202=) c.997A= (p.Ser333=) c.*1096A= (n.*1096A=) c.1015A= (p.Ser339=) c.*71A= (n.*71A=) | |
19 | g.11422802C>A | CA404120384 | ODAD3 | c.1176G>T (p.Lys392Asn) c.603G>T (p.Lys201Asn) c.996G>T (p.Lys332Asn) c.*1095G>T (n.*1095G>T) c.1014G>T (p.Lys338Asn) c.*70G>T (n.*70G>T) | |
19 | g.11422802C= | CA2322925026 | ODAD3 | c.1176G= (p.Lys392=) c.603G= (p.Lys201=) c.996G= (p.Lys332=) c.*1095G= (n.*1095G=) c.1014G= (p.Lys338=) c.*70G= (n.*70G=) | |
19 | g.11422802C>G | CA9212097 | ODAD3 | c.1176G>C (p.Lys392Asn) c.603G>C (p.Lys201Asn) c.996G>C (p.Lys332Asn) c.*1095G>C (n.*1095G>C) c.1014G>C (p.Lys338Asn) c.*70G>C (n.*70G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422802C>T | CA505749502 | ODAD3 | c.1176G>A (p.Lys392=) c.603G>A (p.Lys201=) c.996G>A (p.Lys332=) c.*1095G>A (n.*1095G>A) c.1014G>A (p.Lys338=) c.*70G>A (n.*70G>A) | dbSNP |
19 | g.11422803T>A | CA404120387 | ODAD3 | c.1175A>T (p.Lys392Met) c.602A>T (p.Lys201Met) c.995A>T (p.Lys332Met) c.*1094A>T (n.*1094A>T) c.1013A>T (p.Lys338Met) c.*69A>T (n.*69A>T) | |
19 | g.11422803T>C | CA404120389 | ODAD3 | c.1175A>G (p.Lys392Arg) c.602A>G (p.Lys201Arg) c.995A>G (p.Lys332Arg) c.*1094A>G (n.*1094A>G) c.1013A>G (p.Lys338Arg) c.*69A>G (n.*69A>G) | gnomAD v4 |
19 | g.11422803T>G | CA404120390 | ODAD3 | c.1175A>C (p.Lys392Thr) c.602A>C (p.Lys201Thr) c.995A>C (p.Lys332Thr) c.*1094A>C (n.*1094A>C) c.1013A>C (p.Lys338Thr) c.*69A>C (n.*69A>C) | |
19 | g.11422804T>A | CA404120392 | ODAD3 | c.1174A>T (p.Lys392Ter) c.601A>T (p.Lys201Ter) c.994A>T (p.Lys332Ter) c.*1093A>T (n.*1093A>T) c.1012A>T (p.Lys338Ter) c.*68A>T (n.*68A>T) | |
19 | g.11422804T>C | CA404120397 | ODAD3 | c.1174A>G (p.Lys392Glu) c.601A>G (p.Lys201Glu) c.994A>G (p.Lys332Glu) c.*1093A>G (n.*1093A>G) c.1012A>G (p.Lys338Glu) c.*68A>G (n.*68A>G) | |
19 | g.11422804T>G | CA404120399 | ODAD3 | c.1174A>C (p.Lys392Gln) c.601A>C (p.Lys201Gln) c.994A>C (p.Lys332Gln) c.*1093A>C (n.*1093A>C) c.1012A>C (p.Lys338Gln) c.*68A>C (n.*68A>C) | |
19 | g.11422805G>A | CA505749503 | ODAD3 | c.1173C>T (p.Leu391=) c.600C>T (p.Leu200=) c.993C>T (p.Leu331=) c.*1092C>T (n.*1092C>T) c.1011C>T (p.Leu337=) c.*67C>T (n.*67C>T) | COSMIC |
19 | g.11422805G>C | CA505749504 | ODAD3 | c.1173C>G (p.Leu391=) c.600C>G (p.Leu200=) c.993C>G (p.Leu331=) c.*1092C>G (n.*1092C>G) c.1011C>G (p.Leu337=) c.*67C>G (n.*67C>G) | |
19 | g.11422805G>T | CA505749505 | ODAD3 | c.1173C>A (p.Leu391=) c.600C>A (p.Leu200=) c.993C>A (p.Leu331=) c.*1092C>A (n.*1092C>A) c.1011C>A (p.Leu337=) c.*67C>A (n.*67C>A) | gnomAD v4 |
19 | g.11422806A>C | CA404120401 | ODAD3 | c.1172T>G (p.Leu391Arg) c.599T>G (p.Leu200Arg) c.992T>G (p.Leu331Arg) c.*1091T>G (n.*1091T>G) c.1010T>G (p.Leu337Arg) c.*66T>G (n.*66T>G) | |
19 | g.11422806A>G | CA404120403 | ODAD3 | c.1172T>C (p.Leu391Pro) c.599T>C (p.Leu200Pro) c.992T>C (p.Leu331Pro) c.*1091T>C (n.*1091T>C) c.1010T>C (p.Leu337Pro) c.*66T>C (n.*66T>C) | |
19 | g.11422806A>T | CA404120406 | ODAD3 | c.1172T>A (p.Leu391His) c.599T>A (p.Leu200His) c.992T>A (p.Leu331His) c.*1091T>A (n.*1091T>A) c.1010T>A (p.Leu337His) c.*66T>A (n.*66T>A) | |
19 | g.11422807G>A | CA404120410 | ODAD3 | c.1171C>T (p.Leu391Phe) c.598C>T (p.Leu200Phe) c.991C>T (p.Leu331Phe) c.*1090C>T (n.*1090C>T) c.1009C>T (p.Leu337Phe) c.*65C>T (n.*65C>T) | |
19 | g.11422807G>C | CA404120408 | ODAD3 | c.1171C>G (p.Leu391Val) c.598C>G (p.Leu200Val) c.991C>G (p.Leu331Val) c.*1090C>G (n.*1090C>G) c.1009C>G (p.Leu337Val) c.*65C>G (n.*65C>G) | |
19 | g.11422807G= | CA2322925027 | ODAD3 | c.1171C= (p.Leu391=) c.598C= (p.Leu200=) c.991C= (p.Leu331=) c.*1090C= (n.*1090C=) c.1009C= (p.Leu337=) c.*65C= (n.*65C=) | |
19 | g.11422807G>T | CA404120407 | ODAD3 | c.1171C>A (p.Leu391Ile) c.598C>A (p.Leu200Ile) c.991C>A (p.Leu331Ile) c.*1090C>A (n.*1090C>A) c.1009C>A (p.Leu337Ile) c.*65C>A (n.*65C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11422808C>A | CA505749508 | ODAD3 | c.1170G>T (p.Thr390=) c.597G>T (p.Thr199=) c.990G>T (p.Thr330=) c.*1089G>T (n.*1089G>T) c.1008G>T (p.Thr336=) c.*64G>T (n.*64G>T) | ClinVar dbSNP |
19 | g.11422808C= | CA2322925028 | ODAD3 | c.1170G= (p.Thr390=) c.597G= (p.Thr199=) c.990G= (p.Thr330=) c.*1089G= (n.*1089G=) c.1008G= (p.Thr336=) c.*64G= (n.*64G=) | |
19 | g.11422808C>G | CA505749506 | ODAD3 | c.1170G>C (p.Thr390=) c.597G>C (p.Thr199=) c.990G>C (p.Thr330=) c.*1089G>C (n.*1089G>C) c.1008G>C (p.Thr336=) c.*64G>C (n.*64G>C) | |
19 | g.11422808C>T | CA505749507 | ODAD3 | c.1170G>A (p.Thr390=) c.597G>A (p.Thr199=) c.990G>A (p.Thr330=) c.*1089G>A (n.*1089G>A) c.1008G>A (p.Thr336=) c.*64G>A (n.*64G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422809_11422811del | CA2582529236 | ODAD3 | c.1168_1170del (p.Thr390del) c.595_597del (p.Thr199del) c.988_990del (p.Thr330del) c.*1087_*1089del (n.*1087_*1089del) c.1006_1008del (p.Thr336del) c.*62_*64del (n.*62_*64del) | gnomAD v4 |
19 | g.11422809G>A | CA404120412 | ODAD3 | c.1169C>T (p.Thr390Met) c.596C>T (p.Thr199Met) c.989C>T (p.Thr330Met) c.*1088C>T (n.*1088C>T) c.1007C>T (p.Thr336Met) c.*63C>T (n.*63C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422809G>C | CA404120414 | ODAD3 | c.1169C>G (p.Thr390Arg) c.596C>G (p.Thr199Arg) c.989C>G (p.Thr330Arg) c.*1088C>G (n.*1088C>G) c.1007C>G (p.Thr336Arg) c.*63C>G (n.*63C>G) | |
19 | g.11422809G= | CA2322925030 | ODAD3 | c.1169C= (p.Thr390=) c.596C= (p.Thr199=) c.989C= (p.Thr330=) c.*1088C= (n.*1088C=) c.1007C= (p.Thr336=) c.*63C= (n.*63C=) | |
19 | g.11422809G>T | CA404120415 | ODAD3 | c.1169C>A (p.Thr390Lys) c.596C>A (p.Thr199Lys) c.989C>A (p.Thr330Lys) c.*1088C>A (n.*1088C>A) c.1007C>A (p.Thr336Lys) c.*63C>A (n.*63C>A) | |
19 | g.11422809_11422812dup | CA2322925029 | ODAD3 | c.1166_1169dup (p.Leu391AspfsTer?) c.593_596dup (p.Leu200AspfsTer?) c.986_989dup (p.Leu331AspfsTer?) c.*1085_*1088dup (n.*1085_*1088dup) c.1004_1007dup (p.Leu337AspfsTer?) c.*60_*63dup (n.*60_*63dup) | ClinVar dbSNP |
19 | g.11422810T>A | CA404120417 | ODAD3 | c.1168A>T (p.Thr390Ser) c.595A>T (p.Thr199Ser) c.988A>T (p.Thr330Ser) c.*1087A>T (n.*1087A>T) c.1006A>T (p.Thr336Ser) c.*62A>T (n.*62A>T) | |
19 | g.11422810T>C | CA404120419 | ODAD3 | c.1168A>G (p.Thr390Ala) c.595A>G (p.Thr199Ala) c.988A>G (p.Thr330Ala) c.*1087A>G (n.*1087A>G) c.1006A>G (p.Thr336Ala) c.*62A>G (n.*62A>G) | |
19 | g.11422810T>G | CA404120420 | ODAD3 | c.1168A>C (p.Thr390Pro) c.595A>C (p.Thr199Pro) c.988A>C (p.Thr330Pro) c.*1087A>C (n.*1087A>C) c.1006A>C (p.Thr336Pro) c.*62A>C (n.*62A>C) | |
19 | g.11422811C>A | CA404120421 | ODAD3 | c.1167G>T (p.Glu389Asp) c.594G>T (p.Glu198Asp) c.987G>T (p.Glu329Asp) c.*1086G>T (n.*1086G>T) c.1005G>T (p.Glu335Asp) c.*61G>T (n.*61G>T) | |
19 | g.11422811C>G | CA404120422 | ODAD3 | c.1167G>C (p.Glu389Asp) c.594G>C (p.Glu198Asp) c.987G>C (p.Glu329Asp) c.*1086G>C (n.*1086G>C) c.1005G>C (p.Glu335Asp) c.*61G>C (n.*61G>C) | |
19 | g.11422811C>T | CA505749509 | ODAD3 | c.1167G>A (p.Glu389=) c.594G>A (p.Glu198=) c.987G>A (p.Glu329=) c.*1086G>A (n.*1086G>A) c.1005G>A (p.Glu335=) c.*61G>A (n.*61G>A) | |
19 | g.11422812T>A | CA404120424 | ODAD3 | c.1166A>T (p.Glu389Val) c.593A>T (p.Glu198Val) c.986A>T (p.Glu329Val) c.*1085A>T (n.*1085A>T) c.1004A>T (p.Glu335Val) c.*60A>T (n.*60A>T) | |
19 | g.11422812T>C | CA404120425 | ODAD3 | c.1166A>G (p.Glu389Gly) c.593A>G (p.Glu198Gly) c.986A>G (p.Glu329Gly) c.*1085A>G (n.*1085A>G) c.1004A>G (p.Glu335Gly) c.*60A>G (n.*60A>G) | gnomAD v4 |
19 | g.11422812T>G | CA404120427 | ODAD3 | c.1166A>C (p.Glu389Ala) c.593A>C (p.Glu198Ala) c.986A>C (p.Glu329Ala) c.*1085A>C (n.*1085A>C) c.1004A>C (p.Glu335Ala) c.*60A>C (n.*60A>C) | |
19 | g.11422813C>A | CA404120433 | ODAD3 | c.1165G>T (p.Glu389Ter) c.592G>T (p.Glu198Ter) c.985G>T (p.Glu329Ter) c.*1084G>T (n.*1084G>T) c.1003G>T (p.Glu335Ter) c.*59G>T (n.*59G>T) | |
19 | g.11422813C>G | CA404120431 | ODAD3 | c.1165G>C (p.Glu389Gln) c.592G>C (p.Glu198Gln) c.985G>C (p.Glu329Gln) c.*1084G>C (n.*1084G>C) c.1003G>C (p.Glu335Gln) c.*59G>C (n.*59G>C) | |
19 | g.11422813C>T | CA404120429 | ODAD3 | c.1165G>A (p.Glu389Lys) c.592G>A (p.Glu198Lys) c.985G>A (p.Glu329Lys) c.*1084G>A (n.*1084G>A) c.1003G>A (p.Glu335Lys) c.*59G>A (n.*59G>A) | gnomAD v4 |
19 | g.11422814C>A | CA404120437 | ODAD3 | c.1164G>T (p.Leu388Phe) c.591G>T (p.Leu197Phe) c.984G>T (p.Leu328Phe) c.*1083G>T (n.*1083G>T) c.1002G>T (p.Leu334Phe) c.*58G>T (n.*58G>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.11422814C= | CA2322925031 | ODAD3 | c.1164G= (p.Leu388=) c.591G= (p.Leu197=) c.984G= (p.Leu328=) c.*1083G= (n.*1083G=) c.1002G= (p.Leu334=) c.*58G= (n.*58G=) | |
19 | g.11422814C>G | CA404120438 | ODAD3 | c.1164G>C (p.Leu388Phe) c.591G>C (p.Leu197Phe) c.984G>C (p.Leu328Phe) c.*1083G>C (n.*1083G>C) c.1002G>C (p.Leu334Phe) c.*58G>C (n.*58G>C) | |
19 | g.11422814C>T | CA9212098 | ODAD3 | c.1164G>A (p.Leu388=) c.591G>A (p.Leu197=) c.984G>A (p.Leu328=) c.*1083G>A (n.*1083G>A) c.1002G>A (p.Leu334=) c.*58G>A (n.*58G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422815A>C | CA404120441 | ODAD3 | c.1163T>G (p.Leu388Trp) c.590T>G (p.Leu197Trp) c.983T>G (p.Leu328Trp) c.*1082T>G (n.*1082T>G) c.1001T>G (p.Leu334Trp) c.*57T>G (n.*57T>G) | gnomAD v4 |
19 | g.11422815A>G | CA404120443 | ODAD3 | c.1163T>C (p.Leu388Ser) c.590T>C (p.Leu197Ser) c.983T>C (p.Leu328Ser) c.*1082T>C (n.*1082T>C) c.1001T>C (p.Leu334Ser) c.*57T>C (n.*57T>C) | |
19 | g.11422815A>T | CA404120444 | ODAD3 | c.1163T>A (p.Leu388Ter) c.590T>A (p.Leu197Ter) c.983T>A (p.Leu328Ter) c.*1082T>A (n.*1082T>A) c.1001T>A (p.Leu334Ter) c.*57T>A (n.*57T>A) | |
19 | g.11422816A= | CA2322925032 | ODAD3 | c.1162T= (p.Leu388=) c.589T= (p.Leu197=) c.982T= (p.Leu328=) c.*1081T= (n.*1081T=) c.1000T= (p.Leu334=) c.*56T= (n.*56T=) | |
19 | g.11422816A>C | CA404120446 | ODAD3 | c.1162T>G (p.Leu388Val) c.589T>G (p.Leu197Val) c.982T>G (p.Leu328Val) c.*1081T>G (n.*1081T>G) c.1000T>G (p.Leu334Val) c.*56T>G (n.*56T>G) | dbSNP |
19 | g.11422816A>G | CA505749510 | ODAD3 | c.1162T>C (p.Leu388=) c.589T>C (p.Leu197=) c.982T>C (p.Leu328=) c.*1081T>C (n.*1081T>C) c.1000T>C (p.Leu334=) c.*56T>C (n.*56T>C) | gnomAD v4 |
19 | g.11422816A>T | CA404120448 | ODAD3 | c.1162T>A (p.Leu388Met) c.589T>A (p.Leu197Met) c.982T>A (p.Leu328Met) c.*1081T>A (n.*1081T>A) c.1000T>A (p.Leu334Met) c.*56T>A (n.*56T>A) | |
19 | g.11422817C>A | CA404120449 | ODAD3 | c.1161G>T (p.Gln387His) c.588G>T (p.Gln196His) c.981G>T (p.Gln327His) c.*1080G>T (n.*1080G>T) c.999G>T (p.Gln333His) c.*55G>T (n.*55G>T) | |
19 | g.11422817C>G | CA404120450 | ODAD3 | c.1161G>C (p.Gln387His) c.588G>C (p.Gln196His) c.981G>C (p.Gln327His) c.*1080G>C (n.*1080G>C) c.999G>C (p.Gln333His) c.*55G>C (n.*55G>C) | |
19 | g.11422817C>T | CA505749511 | ODAD3 | c.1161G>A (p.Gln387=) c.588G>A (p.Gln196=) c.981G>A (p.Gln327=) c.*1080G>A (n.*1080G>A) c.999G>A (p.Gln333=) c.*55G>A (n.*55G>A) | |
19 | g.11422818T>A | CA404120451 | ODAD3 | c.1160A>T (p.Gln387Leu) c.587A>T (p.Gln196Leu) c.980A>T (p.Gln327Leu) c.*1079A>T (n.*1079A>T) c.998A>T (p.Gln333Leu) c.*54A>T (n.*54A>T) | |
19 | g.11422818T>C | CA404120452 | ODAD3 | c.1160A>G (p.Gln387Arg) c.587A>G (p.Gln196Arg) c.980A>G (p.Gln327Arg) c.*1079A>G (n.*1079A>G) c.998A>G (p.Gln333Arg) c.*54A>G (n.*54A>G) | |
19 | g.11422818T>G | CA404120453 | ODAD3 | c.1160A>C (p.Gln387Pro) c.587A>C (p.Gln196Pro) c.980A>C (p.Gln327Pro) c.*1079A>C (n.*1079A>C) c.998A>C (p.Gln333Pro) c.*54A>C (n.*54A>C) | gnomAD v4 |
19 | g.11422819G>A | CA404120456 | ODAD3 | c.1159C>T (p.Gln387Ter) c.586C>T (p.Gln196Ter) c.979C>T (p.Gln327Ter) c.*1078C>T (n.*1078C>T) c.997C>T (p.Gln333Ter) c.*53C>T (n.*53C>T) | |
19 | g.11422819G>C | CA404120454 | ODAD3 | c.1159C>G (p.Gln387Glu) c.586C>G (p.Gln196Glu) c.979C>G (p.Gln327Glu) c.*1078C>G (n.*1078C>G) c.997C>G (p.Gln333Glu) c.*53C>G (n.*53C>G) | |
19 | g.11422819G>T | CA404120455 | ODAD3 | c.1159C>A (p.Gln387Lys) c.586C>A (p.Gln196Lys) c.979C>A (p.Gln327Lys) c.*1078C>A (n.*1078C>A) c.997C>A (p.Gln333Lys) c.*53C>A (n.*53C>A) | gnomAD v4 |
19 | g.11422820C>A | CA505749513 | ODAD3 | c.1158G>T (p.Ala386=) c.585G>T (p.Ala195=) c.978G>T (p.Ala326=) c.*1077G>T (n.*1077G>T) c.996G>T (p.Ala332=) c.*52G>T (n.*52G>T) | dbSNP gnomAD v2 |
19 | g.11422820C= | CA2322925033 | ODAD3 | c.1158G= (p.Ala386=) c.585G= (p.Ala195=) c.978G= (p.Ala326=) c.*1077G= (n.*1077G=) c.996G= (p.Ala332=) c.*52G= (n.*52G=) | |
19 | g.11422820C>G | CA505749514 | ODAD3 | c.1158G>C (p.Ala386=) c.585G>C (p.Ala195=) c.978G>C (p.Ala326=) c.*1077G>C (n.*1077G>C) c.996G>C (p.Ala332=) c.*52G>C (n.*52G>C) | |
19 | g.11422820C>T | CA505749515 | ODAD3 | c.1158G>A (p.Ala386=) c.585G>A (p.Ala195=) c.978G>A (p.Ala326=) c.*1077G>A (n.*1077G>A) c.996G>A (p.Ala332=) c.*52G>A (n.*52G>A) | gnomAD v4 |
19 | g.11422821G>A | CA9212099 | ODAD3 | c.1157C>T (p.Ala386Val) c.584C>T (p.Ala195Val) c.977C>T (p.Ala326Val) c.*1076C>T (n.*1076C>T) c.995C>T (p.Ala332Val) c.*51C>T (n.*51C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422821G>C | CA404120458 | ODAD3 | c.1157C>G (p.Ala386Gly) c.584C>G (p.Ala195Gly) c.977C>G (p.Ala326Gly) c.*1076C>G (n.*1076C>G) c.995C>G (p.Ala332Gly) c.*51C>G (n.*51C>G) | |
19 | g.11422821G= | CA2322925034 | ODAD3 | c.1157C= (p.Ala386=) c.584C= (p.Ala195=) c.977C= (p.Ala326=) c.*1076C= (n.*1076C=) c.995C= (p.Ala332=) c.*51C= (n.*51C=) | |
19 | g.11422821G>T | CA404120459 | ODAD3 | c.1157C>A (p.Ala386Glu) c.584C>A (p.Ala195Glu) c.977C>A (p.Ala326Glu) c.*1076C>A (n.*1076C>A) c.995C>A (p.Ala332Glu) c.*51C>A (n.*51C>A) | gnomAD v4 |
19 | g.11422822C>A | CA404120462 | ODAD3 | c.1156G>T (p.Ala386Ser) c.583G>T (p.Ala195Ser) c.976G>T (p.Ala326Ser) c.*1075G>T (n.*1075G>T) c.994G>T (p.Ala332Ser) c.*50G>T (n.*50G>T) | gnomAD v4 |
19 | g.11422822C>G | CA404120463 | ODAD3 | c.1156G>C (p.Ala386Pro) c.583G>C (p.Ala195Pro) c.976G>C (p.Ala326Pro) c.*1075G>C (n.*1075G>C) c.994G>C (p.Ala332Pro) c.*50G>C (n.*50G>C) | |
19 | g.11422822C>T | CA404120465 | ODAD3 | c.1156G>A (p.Ala386Thr) c.583G>A (p.Ala195Thr) c.976G>A (p.Ala326Thr) c.*1075G>A (n.*1075G>A) c.994G>A (p.Ala332Thr) c.*50G>A (n.*50G>A) | |
19 | g.11422823G>A | CA505749519 | ODAD3 | c.1155C>T (p.Phe385=) c.582C>T (p.Phe194=) c.975C>T (p.Phe325=) c.*1074C>T (n.*1074C>T) c.993C>T (p.Phe331=) c.*49C>T (n.*49C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11422823G>C | CA404120467 | ODAD3 | c.1155C>G (p.Phe385Leu) c.582C>G (p.Phe194Leu) c.975C>G (p.Phe325Leu) c.*1074C>G (n.*1074C>G) c.993C>G (p.Phe331Leu) c.*49C>G (n.*49C>G) | |
19 | g.11422823G= | CA2322925035 | ODAD3 | c.1155C= (p.Phe385=) c.582C= (p.Phe194=) c.975C= (p.Phe325=) c.*1074C= (n.*1074C=) c.993C= (p.Phe331=) c.*49C= (n.*49C=) | |
19 | g.11422823G>T | CA404120469 | ODAD3 | c.1155C>A (p.Phe385Leu) c.582C>A (p.Phe194Leu) c.975C>A (p.Phe325Leu) c.*1074C>A (n.*1074C>A) c.993C>A (p.Phe331Leu) c.*49C>A (n.*49C>A) | gnomAD v4 |
19 | g.11422824A>C | CA404120471 | ODAD3 | c.1154T>G (p.Phe385Cys) c.581T>G (p.Phe194Cys) c.974T>G (p.Phe325Cys) c.*1073T>G (n.*1073T>G) c.992T>G (p.Phe331Cys) c.*48T>G (n.*48T>G) | |
19 | g.11422824A>G | CA404120473 | ODAD3 | c.1154T>C (p.Phe385Ser) c.581T>C (p.Phe194Ser) c.974T>C (p.Phe325Ser) c.*1073T>C (n.*1073T>C) c.992T>C (p.Phe331Ser) c.*48T>C (n.*48T>C) | |
19 | g.11422824A>T | CA404120475 | ODAD3 | c.1154T>A (p.Phe385Tyr) c.581T>A (p.Phe194Tyr) c.974T>A (p.Phe325Tyr) c.*1073T>A (n.*1073T>A) c.992T>A (p.Phe331Tyr) c.*48T>A (n.*48T>A) | |
19 | g.11422825A= | CA2322925036 | ODAD3 | c.1153T= (p.Phe385=) c.580T= (p.Phe194=) c.973T= (p.Phe325=) c.*1072T= (n.*1072T=) c.991T= (p.Phe331=) c.*47T= (n.*47T=) | |
19 | g.11422825A>C | CA404120480 | ODAD3 | c.1153T>G (p.Phe385Val) c.580T>G (p.Phe194Val) c.973T>G (p.Phe325Val) c.*1072T>G (n.*1072T>G) c.991T>G (p.Phe331Val) c.*47T>G (n.*47T>G) | |
19 | g.11422825A>G | CA404120479 | ODAD3 | c.1153T>C (p.Phe385Leu) c.580T>C (p.Phe194Leu) c.973T>C (p.Phe325Leu) c.*1072T>C (n.*1072T>C) c.991T>C (p.Phe331Leu) c.*47T>C (n.*47T>C) | dbSNP |
19 | g.11422825A>T | CA404120478 | ODAD3 | c.1153T>A (p.Phe385Ile) c.580T>A (p.Phe194Ile) c.973T>A (p.Phe325Ile) c.*1072T>A (n.*1072T>A) c.991T>A (p.Phe331Ile) c.*47T>A (n.*47T>A) | |
19 | g.11422826G>A | CA505749521 | ODAD3 | c.1152C>T (p.Thr384=) c.579C>T (p.Thr193=) c.972C>T (p.Thr324=) c.*1071C>T (n.*1071C>T) c.990C>T (p.Thr330=) c.*46C>T (n.*46C>T) | |
19 | g.11422826G>C | CA505749522 | ODAD3 | c.1152C>G (p.Thr384=) c.579C>G (p.Thr193=) c.972C>G (p.Thr324=) c.*1071C>G (n.*1071C>G) c.990C>G (p.Thr330=) c.*46C>G (n.*46C>G) | |
19 | g.11422826G>T | CA505749523 | ODAD3 | c.1152C>A (p.Thr384=) c.579C>A (p.Thr193=) c.972C>A (p.Thr324=) c.*1071C>A (n.*1071C>A) c.990C>A (p.Thr330=) c.*46C>A (n.*46C>A) | gnomAD v4 |
19 | g.11422827G>A | CA404120481 | ODAD3 | c.1151C>T (p.Thr384Ile) c.578C>T (p.Thr193Ile) c.971C>T (p.Thr324Ile) c.*1070C>T (n.*1070C>T) c.989C>T (p.Thr330Ile) c.*45C>T (n.*45C>T) | gnomAD v4 |
19 | g.11422827G>C | CA404120485 | ODAD3 | c.1151C>G (p.Thr384Ser) c.578C>G (p.Thr193Ser) c.971C>G (p.Thr324Ser) c.*1070C>G (n.*1070C>G) c.989C>G (p.Thr330Ser) c.*45C>G (n.*45C>G) | |
19 | g.11422827G>T | CA404120483 | ODAD3 | c.1151C>A (p.Thr384Asn) c.578C>A (p.Thr193Asn) c.971C>A (p.Thr324Asn) c.*1070C>A (n.*1070C>A) c.989C>A (p.Thr330Asn) c.*45C>A (n.*45C>A) | gnomAD v4 |
19 | g.11422828T>A | CA404120487 | ODAD3 | c.1150A>T (p.Thr384Ser) c.577A>T (p.Thr193Ser) c.970A>T (p.Thr324Ser) c.*1069A>T (n.*1069A>T) c.988A>T (p.Thr330Ser) c.*44A>T (n.*44A>T) | gnomAD v4 |
19 | g.11422828T>C | CA404120489 | ODAD3 | c.1150A>G (p.Thr384Ala) c.577A>G (p.Thr193Ala) c.970A>G (p.Thr324Ala) c.*1069A>G (n.*1069A>G) c.988A>G (p.Thr330Ala) c.*44A>G (n.*44A>G) | |
19 | g.11422828T>G | CA404120488 | ODAD3 | c.1150A>C (p.Thr384Pro) c.577A>C (p.Thr193Pro) c.970A>C (p.Thr324Pro) c.*1069A>C (n.*1069A>C) c.988A>C (p.Thr330Pro) c.*44A>C (n.*44A>C) | |
19 | g.11422829G>A | CA505749524 | ODAD3 | c.1149C>T (p.Asp383=) c.576C>T (p.Asp192=) c.969C>T (p.Asp323=) c.*1068C>T (n.*1068C>T) c.987C>T (p.Asp329=) c.*43C>T (n.*43C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11422829G>C | CA404120490 | ODAD3 | c.1149C>G (p.Asp383Glu) c.576C>G (p.Asp192Glu) c.969C>G (p.Asp323Glu) c.*1068C>G (n.*1068C>G) c.987C>G (p.Asp329Glu) c.*43C>G (n.*43C>G) | |
19 | g.11422829G= | CA2322925037 | ODAD3 | c.1149C= (p.Asp383=) c.576C= (p.Asp192=) c.969C= (p.Asp323=) c.*1068C= (n.*1068C=) c.987C= (p.Asp329=) c.*43C= (n.*43C=) | |
19 | g.11422829G>T | CA404120491 | ODAD3 | c.1149C>A (p.Asp383Glu) c.576C>A (p.Asp192Glu) c.969C>A (p.Asp323Glu) c.*1068C>A (n.*1068C>A) c.987C>A (p.Asp329Glu) c.*43C>A (n.*43C>A) | gnomAD v4 |
19 | g.11422830T>A | CA404120493 | ODAD3 | c.1148A>T (p.Asp383Val) c.575A>T (p.Asp192Val) c.968A>T (p.Asp323Val) c.*1067A>T (n.*1067A>T) c.986A>T (p.Asp329Val) c.*42A>T (n.*42A>T) | |
19 | g.11422830T>C | CA404120495 | ODAD3 | c.1148A>G (p.Asp383Gly) c.575A>G (p.Asp192Gly) c.968A>G (p.Asp323Gly) c.*1067A>G (n.*1067A>G) c.986A>G (p.Asp329Gly) c.*42A>G (n.*42A>G) | gnomAD v4 |
19 | g.11422830T>G | CA404120497 | ODAD3 | c.1148A>C (p.Asp383Ala) c.575A>C (p.Asp192Ala) c.968A>C (p.Asp323Ala) c.*1067A>C (n.*1067A>C) c.986A>C (p.Asp329Ala) c.*42A>C (n.*42A>C) | |
19 | g.11422830dup | CA632116899 | ODAD3 | c.1148dup (p.Asp383GlufsTer?) c.575dup (p.Asp192GlufsTer?) c.968dup (p.Asp323GlufsTer?) c.*1067dup (n.*1067dup) c.986dup (p.Asp329GlufsTer?) c.*42dup (n.*42dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422831C>A | CA404120499 | ODAD3 | c.1147G>T (p.Asp383Tyr) c.574G>T (p.Asp192Tyr) c.967G>T (p.Asp323Tyr) c.*1066G>T (n.*1066G>T) c.985G>T (p.Asp329Tyr) c.*41G>T (n.*41G>T) | |
19 | g.11422831C>G | CA404120501 | ODAD3 | c.1147G>C (p.Asp383His) c.574G>C (p.Asp192His) c.967G>C (p.Asp323His) c.*1066G>C (n.*1066G>C) c.985G>C (p.Asp329His) c.*41G>C (n.*41G>C) | |
19 | g.11422831C>T | CA404120503 | ODAD3 | c.1147G>A (p.Asp383Asn) c.574G>A (p.Asp192Asn) c.967G>A (p.Asp323Asn) c.*1066G>A (n.*1066G>A) c.985G>A (p.Asp329Asn) c.*41G>A (n.*41G>A) | gnomAD v4 |
19 | g.11422832G>A | CA505749528 | ODAD3 | c.1146C>T (p.Gly382=) c.573C>T (p.Gly191=) c.966C>T (p.Gly322=) c.*1065C>T (n.*1065C>T) c.984C>T (p.Gly328=) c.*40C>T (n.*40C>T) | gnomAD v4 |
19 | g.11422832G>C | CA505749529 | ODAD3 | c.1146C>G (p.Gly382=) c.573C>G (p.Gly191=) c.966C>G (p.Gly322=) c.*1065C>G (n.*1065C>G) c.984C>G (p.Gly328=) c.*40C>G (n.*40C>G) | |
19 | g.11422832G>T | CA505749530 | ODAD3 | c.1146C>A (p.Gly382=) c.573C>A (p.Gly191=) c.966C>A (p.Gly322=) c.*1065C>A (n.*1065C>A) c.984C>A (p.Gly328=) c.*40C>A (n.*40C>A) | gnomAD v4 |
19 | g.11422833C>A | CA404120505 | ODAD3 | c.1145G>T (p.Gly382Val) c.572G>T (p.Gly191Val) c.965G>T (p.Gly322Val) c.*1064G>T (n.*1064G>T) c.983G>T (p.Gly328Val) c.*39G>T (n.*39G>T) | gnomAD v4 |
19 | g.11422833C= | CA2322925038 | ODAD3 | c.1145G= (p.Gly382=) c.572G= (p.Gly191=) c.965G= (p.Gly322=) c.*1064G= (n.*1064G=) c.983G= (p.Gly328=) c.*39G= (n.*39G=) | |
19 | g.11422833C>G | CA404120507 | ODAD3 | c.1145G>C (p.Gly382Ala) c.572G>C (p.Gly191Ala) c.965G>C (p.Gly322Ala) c.*1064G>C (n.*1064G>C) c.983G>C (p.Gly328Ala) c.*39G>C (n.*39G>C) | |
19 | g.11422833C>T | CA404120509 | ODAD3 | c.1145G>A (p.Gly382Asp) c.572G>A (p.Gly191Asp) c.965G>A (p.Gly322Asp) c.*1064G>A (n.*1064G>A) c.983G>A (p.Gly328Asp) c.*39G>A (n.*39G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11422834C>A | CA404120511 | ODAD3 | c.1144G>T (p.Gly382Cys) c.571G>T (p.Gly191Cys) c.964G>T (p.Gly322Cys) c.*1063G>T (n.*1063G>T) c.982G>T (p.Gly328Cys) c.*38G>T (n.*38G>T) | |
19 | g.11422834C>G | CA404120513 | ODAD3 | c.1144G>C (p.Gly382Arg) c.571G>C (p.Gly191Arg) c.964G>C (p.Gly322Arg) c.*1063G>C (n.*1063G>C) c.982G>C (p.Gly328Arg) c.*38G>C (n.*38G>C) | |
19 | g.11422834C>T | CA404120515 | ODAD3 | c.1144G>A (p.Gly382Ser) c.571G>A (p.Gly191Ser) c.964G>A (p.Gly322Ser) c.*1063G>A (n.*1063G>A) c.982G>A (p.Gly328Ser) c.*38G>A (n.*38G>A) | gnomAD v4 |
19 | g.11422835C>A | CA404120517 | ODAD3 | c.1143G>T (p.Gln381His) c.570G>T (p.Gln190His) c.963G>T (p.Gln321His) c.*1062G>T (n.*1062G>T) c.981G>T (p.Gln327His) c.*37G>T (n.*37G>T) | |
19 | g.11422835C= | CA2322925039 | ODAD3 | c.1143G= (p.Gln381=) c.570G= (p.Gln190=) c.963G= (p.Gln321=) c.*1062G= (n.*1062G=) c.981G= (p.Gln327=) c.*37G= (n.*37G=) | |
19 | g.11422835C>G | CA404120518 | ODAD3 | c.1143G>C (p.Gln381His) c.570G>C (p.Gln190His) c.963G>C (p.Gln321His) c.*1062G>C (n.*1062G>C) c.981G>C (p.Gln327His) c.*37G>C (n.*37G>C) | |
19 | g.11422835C>T | CA505749532 | ODAD3 | c.1143G>A (p.Gln381=) c.570G>A (p.Gln190=) c.963G>A (p.Gln321=) c.*1062G>A (n.*1062G>A) c.981G>A (p.Gln327=) c.*37G>A (n.*37G>A) | dbSNP gnomAD v2 |
19 | g.11422836T>A | CA404120521 | ODAD3 | c.1142A>T (p.Gln381Leu) c.569A>T (p.Gln190Leu) c.962A>T (p.Gln321Leu) c.*1061A>T (n.*1061A>T) c.980A>T (p.Gln327Leu) c.*36A>T (n.*36A>T) | |
19 | g.11422836T>C | CA404120523 | ODAD3 | c.1142A>G (p.Gln381Arg) c.569A>G (p.Gln190Arg) c.962A>G (p.Gln321Arg) c.*1061A>G (n.*1061A>G) c.980A>G (p.Gln327Arg) c.*36A>G (n.*36A>G) | |
19 | g.11422836T>G | CA404120525 | ODAD3 | c.1142A>C (p.Gln381Pro) c.569A>C (p.Gln190Pro) c.962A>C (p.Gln321Pro) c.*1061A>C (n.*1061A>C) c.980A>C (p.Gln327Pro) c.*36A>C (n.*36A>C) | gnomAD v4 |
19 | g.11422837G>A | CA9212100 | ODAD3 | c.1141C>T (p.Gln381Ter) c.568C>T (p.Gln190Ter) c.961C>T (p.Gln321Ter) c.*1060C>T (n.*1060C>T) c.979C>T (p.Gln327Ter) c.*35C>T (n.*35C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422837G>C | CA404120527 | ODAD3 | c.1141C>G (p.Gln381Glu) c.568C>G (p.Gln190Glu) c.961C>G (p.Gln321Glu) c.*1060C>G (n.*1060C>G) c.979C>G (p.Gln327Glu) c.*35C>G (n.*35C>G) | |
19 | g.11422837G= | CA2322925040 | ODAD3 | c.1141C= (p.Gln381=) c.568C= (p.Gln190=) c.961C= (p.Gln321=) c.*1060C= (n.*1060C=) c.979C= (p.Gln327=) c.*35C= (n.*35C=) | |
19 | g.11422837G>T | CA404120529 | ODAD3 | c.1141C>A (p.Gln381Lys) c.568C>A (p.Gln190Lys) c.961C>A (p.Gln321Lys) c.*1060C>A (n.*1060C>A) c.979C>A (p.Gln327Lys) c.*35C>A (n.*35C>A) | gnomAD v4 |
19 | g.11422838G>A | CA505749534 | ODAD3 | c.1140C>T (p.Ala380=) c.567C>T (p.Ala189=) c.960C>T (p.Ala320=) c.*1059C>T (n.*1059C>T) c.978C>T (p.Ala326=) c.*34C>T (n.*34C>T) | dbSNP |
19 | g.11422838G>C | CA505749535 | ODAD3 | c.1140C>G (p.Ala380=) c.567C>G (p.Ala189=) c.960C>G (p.Ala320=) c.*1059C>G (n.*1059C>G) c.978C>G (p.Ala326=) c.*34C>G (n.*34C>G) | dbSNP |
19 | g.11422838G= | CA2322925041 | ODAD3 | c.1140C= (p.Ala380=) c.567C= (p.Ala189=) c.960C= (p.Ala320=) c.*1059C= (n.*1059C=) c.978C= (p.Ala326=) c.*34C= (n.*34C=) | |
19 | g.11422838G>T | CA505749536 | ODAD3 | c.1140C>A (p.Ala380=) c.567C>A (p.Ala189=) c.960C>A (p.Ala320=) c.*1059C>A (n.*1059C>A) c.978C>A (p.Ala326=) c.*34C>A (n.*34C>A) | gnomAD v4 |
19 | g.11422839G>A | CA404120531 | ODAD3 | c.1139C>T (p.Ala380Val) c.566C>T (p.Ala189Val) c.959C>T (p.Ala320Val) c.*1058C>T (n.*1058C>T) c.977C>T (p.Ala326Val) c.*33C>T (n.*33C>T) | dbSNP gnomAD v4 |
19 | g.11422839G>C | CA404120533 | ODAD3 | c.1139C>G (p.Ala380Gly) c.566C>G (p.Ala189Gly) c.959C>G (p.Ala320Gly) c.*1058C>G (n.*1058C>G) c.977C>G (p.Ala326Gly) c.*33C>G (n.*33C>G) | |
19 | g.11422839G= | CA2322925042 | ODAD3 | c.1139C= (p.Ala380=) c.566C= (p.Ala189=) c.959C= (p.Ala320=) c.*1058C= (n.*1058C=) c.977C= (p.Ala326=) c.*33C= (n.*33C=) | |
19 | g.11422839G>T | CA404120535 | ODAD3 | c.1139C>A (p.Ala380Asp) c.566C>A (p.Ala189Asp) c.959C>A (p.Ala320Asp) c.*1058C>A (n.*1058C>A) c.977C>A (p.Ala326Asp) c.*33C>A (n.*33C>A) | gnomAD v4 |
19 | g.11422840C>A | CA404120537 | ODAD3 | c.1138G>T (p.Ala380Ser) c.565G>T (p.Ala189Ser) c.958G>T (p.Ala320Ser) c.*1057G>T (n.*1057G>T) c.976G>T (p.Ala326Ser) c.*32G>T (n.*32G>T) | gnomAD v4 |
19 | g.11422840C= | CA2322925043 | ODAD3 | c.1138G= (p.Ala380=) c.565G= (p.Ala189=) c.958G= (p.Ala320=) c.*1057G= (n.*1057G=) c.976G= (p.Ala326=) c.*32G= (n.*32G=) | |
19 | g.11422840C>G | CA404120538 | ODAD3 | c.1138G>C (p.Ala380Pro) c.565G>C (p.Ala189Pro) c.958G>C (p.Ala320Pro) c.*1057G>C (n.*1057G>C) c.976G>C (p.Ala326Pro) c.*32G>C (n.*32G>C) | |
19 | g.11422840C>T | CA404120539 | ODAD3 | c.1138G>A (p.Ala380Thr) c.565G>A (p.Ala189Thr) c.958G>A (p.Ala320Thr) c.*1057G>A (n.*1057G>A) c.976G>A (p.Ala326Thr) c.*32G>A (n.*32G>A) | dbSNP gnomAD v4 |
19 | g.11422841C>A | CA505749538 | ODAD3 | c.1137G>T (p.Leu379=) c.564G>T (p.Leu188=) c.957G>T (p.Leu319=) c.*1056G>T (n.*1056G>T) c.975G>T (p.Leu325=) c.*31G>T (n.*31G>T) | |
19 | g.11422841C= | CA2322925044 | ODAD3 | c.1137G= (p.Leu379=) c.564G= (p.Leu188=) c.957G= (p.Leu319=) c.*1056G= (n.*1056G=) c.975G= (p.Leu325=) c.*31G= (n.*31G=) | |
19 | g.11422841C>G | CA505749539 | ODAD3 | c.1137G>C (p.Leu379=) c.564G>C (p.Leu188=) c.957G>C (p.Leu319=) c.*1056G>C (n.*1056G>C) c.975G>C (p.Leu325=) c.*31G>C (n.*31G>C) | |
19 | g.11422841C>T | CA505749540 | ODAD3 | c.1137G>A (p.Leu379=) c.564G>A (p.Leu188=) c.957G>A (p.Leu319=) c.*1056G>A (n.*1056G>A) c.975G>A (p.Leu325=) c.*31G>A (n.*31G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11422842A= | CA2322925045 | ODAD3 | c.1136T= (p.Leu379=) c.563T= (p.Leu188=) c.956T= (p.Leu319=) c.*1055T= (n.*1055T=) c.974T= (p.Leu325=) c.*30T= (n.*30T=) | |
19 | g.11422842A>C | CA404120542 | ODAD3 | c.1136T>G (p.Leu379Arg) c.563T>G (p.Leu188Arg) c.956T>G (p.Leu319Arg) c.*1055T>G (n.*1055T>G) c.974T>G (p.Leu325Arg) c.*30T>G (n.*30T>G) | |
19 | g.11422842A>G | CA404120546 | ODAD3 | c.1136T>C (p.Leu379Pro) c.563T>C (p.Leu188Pro) c.956T>C (p.Leu319Pro) c.*1055T>C (n.*1055T>C) c.974T>C (p.Leu325Pro) c.*30T>C (n.*30T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11422842A>T | CA404120544 | ODAD3 | c.1136T>A (p.Leu379Gln) c.563T>A (p.Leu188Gln) c.956T>A (p.Leu319Gln) c.*1055T>A (n.*1055T>A) c.974T>A (p.Leu325Gln) c.*30T>A (n.*30T>A) | |
19 | g.11422843G>A | CA9212101 | ODAD3 | c.1135C>T (p.Leu379=) c.562C>T (p.Leu188=) c.955C>T (p.Leu319=) c.*1054C>T (n.*1054C>T) c.973C>T (p.Leu325=) c.*29C>T (n.*29C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422843G>C | CA404120549 | ODAD3 | c.1135C>G (p.Leu379Val) c.562C>G (p.Leu188Val) c.955C>G (p.Leu319Val) c.*1054C>G (n.*1054C>G) c.973C>G (p.Leu325Val) c.*29C>G (n.*29C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11422843G= | CA2322925046 | ODAD3 | c.1135C= (p.Leu379=) c.562C= (p.Leu188=) c.955C= (p.Leu319=) c.*1054C= (n.*1054C=) c.973C= (p.Leu325=) c.*29C= (n.*29C=) | |
19 | g.11422843G>T | CA404120550 | ODAD3 | c.1135C>A (p.Leu379Met) c.562C>A (p.Leu188Met) c.955C>A (p.Leu319Met) c.*1054C>A (n.*1054C>A) c.973C>A (p.Leu325Met) c.*29C>A (n.*29C>A) | gnomAD v4 |
19 | g.11422844G>A | CA505749544 | ODAD3 | c.1134C>T (p.Phe378=) c.561C>T (p.Phe187=) c.954C>T (p.Phe318=) c.*1053C>T (n.*1053C>T) c.972C>T (p.Phe324=) c.*28C>T (n.*28C>T) | gnomAD v4 |
19 | g.11422844G>C | CA404120552 | ODAD3 | c.1134C>G (p.Phe378Leu) c.561C>G (p.Phe187Leu) c.954C>G (p.Phe318Leu) c.*1053C>G (n.*1053C>G) c.972C>G (p.Phe324Leu) c.*28C>G (n.*28C>G) | |
19 | g.11422844G>T | CA404120554 | ODAD3 | c.1134C>A (p.Phe378Leu) c.561C>A (p.Phe187Leu) c.954C>A (p.Phe318Leu) c.*1053C>A (n.*1053C>A) c.972C>A (p.Phe324Leu) c.*28C>A (n.*28C>A) | gnomAD v4 |
19 | g.11422845A>C | CA404120556 | ODAD3 | c.1133T>G (p.Phe378Cys) c.560T>G (p.Phe187Cys) c.953T>G (p.Phe318Cys) c.*1052T>G (n.*1052T>G) c.971T>G (p.Phe324Cys) c.*27T>G (n.*27T>G) | |
19 | g.11422845A>G | CA404120558 | ODAD3 | c.1133T>C (p.Phe378Ser) c.560T>C (p.Phe187Ser) c.953T>C (p.Phe318Ser) c.*1052T>C (n.*1052T>C) c.971T>C (p.Phe324Ser) c.*27T>C (n.*27T>C) | |
19 | g.11422845A>T | CA404120560 | ODAD3 | c.1133T>A (p.Phe378Tyr) c.560T>A (p.Phe187Tyr) c.953T>A (p.Phe318Tyr) c.*1052T>A (n.*1052T>A) c.971T>A (p.Phe324Tyr) c.*27T>A (n.*27T>A) | |
19 | g.11422846A= | CA2322925047 | ODAD3 | c.1132T= (p.Phe378=) c.559T= (p.Phe187=) c.952T= (p.Phe318=) c.*1051T= (n.*1051T=) c.970T= (p.Phe324=) c.*26T= (n.*26T=) | |
19 | g.11422846A>C | CA404120562 | ODAD3 | c.1132T>G (p.Phe378Val) c.559T>G (p.Phe187Val) c.952T>G (p.Phe318Val) c.*1051T>G (n.*1051T>G) c.970T>G (p.Phe324Val) c.*26T>G (n.*26T>G) | gnomAD v4 |
19 | g.11422846A>G | CA404120563 | ODAD3 | c.1132T>C (p.Phe378Leu) c.559T>C (p.Phe187Leu) c.952T>C (p.Phe318Leu) c.*1051T>C (n.*1051T>C) c.970T>C (p.Phe324Leu) c.*26T>C (n.*26T>C) | dbSNP |
19 | g.11422846A>T | CA404120565 | ODAD3 | c.1132T>A (p.Phe378Ile) c.559T>A (p.Phe187Ile) c.952T>A (p.Phe318Ile) c.*1051T>A (n.*1051T>A) c.970T>A (p.Phe324Ile) c.*26T>A (n.*26T>A) | |
19 | g.11422847C>A | CA505749547 | ODAD3 | c.1131G>T (p.Arg377=) c.558G>T (p.Arg186=) c.951G>T (p.Arg317=) c.*1050G>T (n.*1050G>T) c.969G>T (p.Arg323=) c.*25G>T (n.*25G>T) | COSMIC |
19 | g.11422847C>G | CA505749549 | ODAD3 | c.1131G>C (p.Arg377=) c.558G>C (p.Arg186=) c.951G>C (p.Arg317=) c.*1050G>C (n.*1050G>C) c.969G>C (p.Arg323=) c.*25G>C (n.*25G>C) | |
19 | g.11422847C>T | CA505749548 | ODAD3 | c.1131G>A (p.Arg377=) c.558G>A (p.Arg186=) c.951G>A (p.Arg317=) c.*1050G>A (n.*1050G>A) c.969G>A (p.Arg323=) c.*25G>A (n.*25G>A) | gnomAD v4 |
19 | g.11422848dup | CA645602692 | ODAD3 | c.1131dup (p.Phe378ValfsTer?) c.558dup (p.Phe187ValfsTer?) c.951dup (p.Phe318ValfsTer?) c.*1050dup (n.*1050dup) c.969dup (p.Phe324ValfsTer?) c.*25dup (n.*25dup) | COSMIC |
19 | g.11422847_11422848insG | CA505749550 | ODAD3 | c.1130_1131insC (p.Phe378ValfsTer?) c.557_558insC (p.Phe187ValfsTer?) c.950_951insC (p.Phe318ValfsTer?) c.*1049_*1050insC (n.*1049_*1050insC) c.968_969insC (p.Phe324ValfsTer?) c.*24_*25insC (n.*24_*25insC) | |
19 | g.11422848C>A | CA404120570 | ODAD3 | c.1130G>T (p.Arg377Leu) c.557G>T (p.Arg186Leu) c.950G>T (p.Arg317Leu) c.*1049G>T (n.*1049G>T) c.968G>T (p.Arg323Leu) c.*24G>T (n.*24G>T) | |
19 | g.11422848C= | CA2322925048 | ODAD3 | c.1130G= (p.Arg377=) c.557G= (p.Arg186=) c.950G= (p.Arg317=) c.*1049G= (n.*1049G=) c.968G= (p.Arg323=) c.*24G= (n.*24G=) | |
19 | g.11422848C>G | CA404120567 | ODAD3 | c.1130G>C (p.Arg377Pro) c.557G>C (p.Arg186Pro) c.950G>C (p.Arg317Pro) c.*1049G>C (n.*1049G>C) c.968G>C (p.Arg323Pro) c.*24G>C (n.*24G>C) | |
19 | g.11422848C>T | CA9212102 | ODAD3 | c.1130G>A (p.Arg377Gln) c.557G>A (p.Arg186Gln) c.950G>A (p.Arg317Gln) c.*1049G>A (n.*1049G>A) c.968G>A (p.Arg323Gln) c.*24G>A (n.*24G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422849G>A | CA9212103 | ODAD3 | c.1129C>T (p.Arg377Trp) c.556C>T (p.Arg186Trp) c.949C>T (p.Arg317Trp) c.*1048C>T (n.*1048C>T) c.967C>T (p.Arg323Trp) c.*23C>T (n.*23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422849G>C | CA9212104 | ODAD3 | c.1129C>G (p.Arg377Gly) c.556C>G (p.Arg186Gly) c.949C>G (p.Arg317Gly) c.*1048C>G (n.*1048C>G) c.967C>G (p.Arg323Gly) c.*23C>G (n.*23C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422849G= | CA2322925049 | ODAD3 | c.1129C= (p.Arg377=) c.556C= (p.Arg186=) c.949C= (p.Arg317=) c.*1048C= (n.*1048C=) c.967C= (p.Arg323=) c.*23C= (n.*23C=) | |
19 | g.11422849G>T | CA505749551 | ODAD3 | c.1129C>A (p.Arg377=) c.556C>A (p.Arg186=) c.949C>A (p.Arg317=) c.*1048C>A (n.*1048C>A) c.967C>A (p.Arg323=) c.*23C>A (n.*23C>A) | gnomAD v4 |
19 | g.11422850C>A | CA505749553 | ODAD3 | c.1128G>T (p.Arg376=) c.555G>T (p.Arg185=) c.948G>T (p.Arg316=) c.*1047G>T (n.*1047G>T) c.966G>T (p.Arg322=) c.*22G>T (n.*22G>T) | |
19 | g.11422850C>G | CA505749555 | ODAD3 | c.1128G>C (p.Arg376=) c.555G>C (p.Arg185=) c.948G>C (p.Arg316=) c.*1047G>C (n.*1047G>C) c.966G>C (p.Arg322=) c.*22G>C (n.*22G>C) | |
19 | g.11422850C>T | CA505749554 | ODAD3 | c.1128G>A (p.Arg376=) c.555G>A (p.Arg185=) c.948G>A (p.Arg316=) c.*1047G>A (n.*1047G>A) c.966G>A (p.Arg322=) c.*22G>A (n.*22G>A) | gnomAD v4 |
19 | g.11422851C>A | CA404120574 | ODAD3 | c.1127G>T (p.Arg376Leu) c.554G>T (p.Arg185Leu) c.947G>T (p.Arg316Leu) c.*1046G>T (n.*1046G>T) c.965G>T (p.Arg322Leu) c.*21G>T (n.*21G>T) | ClinVar gnomAD v4 |
19 | g.11422851C>G | CA404120575 | ODAD3 | c.1127G>C (p.Arg376Pro) c.554G>C (p.Arg185Pro) c.947G>C (p.Arg316Pro) c.*1046G>C (n.*1046G>C) c.965G>C (p.Arg322Pro) c.*21G>C (n.*21G>C) | |
19 | g.11422851C>T | CA404120576 | ODAD3 | c.1127G>A (p.Arg376Gln) c.554G>A (p.Arg185Gln) c.947G>A (p.Arg316Gln) c.*1046G>A (n.*1046G>A) c.965G>A (p.Arg322Gln) c.*21G>A (n.*21G>A) | gnomAD v4 |
19 | g.11422852G>A | CA404120578 | ODAD3 | c.1126C>T (p.Arg376Trp) c.553C>T (p.Arg185Trp) c.946C>T (p.Arg316Trp) c.*1045C>T (n.*1045C>T) c.964C>T (p.Arg322Trp) c.*20C>T (n.*20C>T) | gnomAD v4 COSMIC |
19 | g.11422852G>C | CA404120580 | ODAD3 | c.1126C>G (p.Arg376Gly) c.553C>G (p.Arg185Gly) c.946C>G (p.Arg316Gly) c.*1045C>G (n.*1045C>G) c.964C>G (p.Arg322Gly) c.*20C>G (n.*20C>G) | |
19 | g.11422852G= | CA2322925050 | ODAD3 | c.1126C= (p.Arg376=) c.553C= (p.Arg185=) c.946C= (p.Arg316=) c.*1045C= (n.*1045C=) c.964C= (p.Arg322=) c.*20C= (n.*20C=) | |
19 | g.11422852G>T | CA9212105 | ODAD3 | c.1126C>A (p.Arg376=) c.553C>A (p.Arg185=) c.946C>A (p.Arg316=) c.*1045C>A (n.*1045C>A) c.964C>A (p.Arg322=) c.*20C>A (n.*20C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422853C>A | CA505749557 | ODAD3 | c.1125G>T (p.Val375=) c.552G>T (p.Val184=) c.945G>T (p.Val315=) c.*1044G>T (n.*1044G>T) c.963G>T (p.Val321=) c.*19G>T (n.*19G>T) | gnomAD v4 |
19 | g.11422853C= | CA2322925051 | ODAD3 | c.1125G= (p.Val375=) c.552G= (p.Val184=) c.945G= (p.Val315=) c.*1044G= (n.*1044G=) c.963G= (p.Val321=) c.*19G= (n.*19G=) | |
19 | g.11422853C>G | CA505749559 | ODAD3 | c.1125G>C (p.Val375=) c.552G>C (p.Val184=) c.945G>C (p.Val315=) c.*1044G>C (n.*1044G>C) c.963G>C (p.Val321=) c.*19G>C (n.*19G>C) | |
19 | g.11422853C>T | CA505749558 | ODAD3 | c.1125G>A (p.Val375=) c.552G>A (p.Val184=) c.945G>A (p.Val315=) c.*1044G>A (n.*1044G>A) c.963G>A (p.Val321=) c.*19G>A (n.*19G>A) | dbSNP gnomAD v4 |
19 | g.11422854A>C | CA404120583 | ODAD3 | c.1124T>G (p.Val375Gly) c.551T>G (p.Val184Gly) c.944T>G (p.Val315Gly) c.*1043T>G (n.*1043T>G) c.962T>G (p.Val321Gly) c.*18T>G (n.*18T>G) | |
19 | g.11422854A>G | CA404120584 | ODAD3 | c.1124T>C (p.Val375Ala) c.551T>C (p.Val184Ala) c.944T>C (p.Val315Ala) c.*1043T>C (n.*1043T>C) c.962T>C (p.Val321Ala) c.*18T>C (n.*18T>C) | |
19 | g.11422854A>T | CA404120586 | ODAD3 | c.1124T>A (p.Val375Glu) c.551T>A (p.Val184Glu) c.944T>A (p.Val315Glu) c.*1043T>A (n.*1043T>A) c.962T>A (p.Val321Glu) c.*18T>A (n.*18T>A) | |
19 | g.11422855C>A | CA404120590 | ODAD3 | c.1123G>T (p.Val375Leu) c.550G>T (p.Val184Leu) c.943G>T (p.Val315Leu) c.*1042G>T (n.*1042G>T) c.961G>T (p.Val321Leu) c.*17G>T (n.*17G>T) | gnomAD v4 |
19 | g.11422855C>G | CA404120592 | ODAD3 | c.1123G>C (p.Val375Leu) c.550G>C (p.Val184Leu) c.943G>C (p.Val315Leu) c.*1042G>C (n.*1042G>C) c.961G>C (p.Val321Leu) c.*17G>C (n.*17G>C) | |
19 | g.11422855C>T | CA404120588 | ODAD3 | c.1123G>A (p.Val375Met) c.550G>A (p.Val184Met) c.943G>A (p.Val315Met) c.*1042G>A (n.*1042G>A) c.961G>A (p.Val321Met) c.*17G>A (n.*17G>A) | gnomAD v4 |
19 | g.11422855_11422858delinsCCAA | CA2322925052 | ODAD3 | c.1120_1123delinsTTGG (p.Leu374=) c.547_550delinsTTGG (p.Leu183=) c.940_943delinsTTGG (p.Leu314=) c.*1039_*1042delinsTTGG (n.*1039_*1042delinsTTGG) c.958_961delinsTTGG (p.Leu320=) c.*14_*17delinsTTGG (n.*14_*17delinsTTGG) | |
19 | g.11422856C>A | CA404120596 | ODAD3 | c.1122G>T (p.Leu374Phe) c.549G>T (p.Leu183Phe) c.942G>T (p.Leu314Phe) c.*1041G>T (n.*1041G>T) c.960G>T (p.Leu320Phe) c.*16G>T (n.*16G>T) | |
19 | g.11422856C= | CA2322925053 | ODAD3 | c.1122G= (p.Leu374=) c.549G= (p.Leu183=) c.942G= (p.Leu314=) c.*1041G= (n.*1041G=) c.960G= (p.Leu320=) c.*16G= (n.*16G=) | |
19 | g.11422856C>G | CA404120594 | ODAD3 | c.1122G>C (p.Leu374Phe) c.549G>C (p.Leu183Phe) c.942G>C (p.Leu314Phe) c.*1041G>C (n.*1041G>C) c.960G>C (p.Leu320Phe) c.*16G>C (n.*16G>C) | |
19 | g.11422856C>T | CA505749560 | ODAD3 | c.1122G>A (p.Leu374=) c.549G>A (p.Leu183=) c.942G>A (p.Leu314=) c.*1041G>A (n.*1041G>A) c.960G>A (p.Leu320=) c.*16G>A (n.*16G>A) | dbSNP gnomAD v2 |
19 | g.11422857_11422859del | CA2322925054 | ODAD3 | c.1120_1122del (p.Leu374del) c.547_549del (p.Leu183del) c.940_942del (p.Leu314del) c.*1039_*1041del (n.*1039_*1041del) c.958_960del (p.Leu320del) c.*14_*16del (n.*14_*16del) | dbSNP |
19 | g.11422857A>C | CA404120598 | ODAD3 | c.1121T>G (p.Leu374Trp) c.548T>G (p.Leu183Trp) c.941T>G (p.Leu314Trp) c.*1040T>G (n.*1040T>G) c.959T>G (p.Leu320Trp) c.*15T>G (n.*15T>G) | |
19 | g.11422857A>G | CA404120599 | ODAD3 | c.1121T>C (p.Leu374Ser) c.548T>C (p.Leu183Ser) c.941T>C (p.Leu314Ser) c.*1040T>C (n.*1040T>C) c.959T>C (p.Leu320Ser) c.*15T>C (n.*15T>C) | |
19 | g.11422857A>T | CA404120602 | ODAD3 | c.1121T>A (p.Leu374Ter) c.548T>A (p.Leu183Ter) c.941T>A (p.Leu314Ter) c.*1040T>A (n.*1040T>A) c.959T>A (p.Leu320Ter) c.*15T>A (n.*15T>A) | |
19 | g.11422858del | CA2735476073 | ODAD3 | c.1121del (p.Leu374TrpfsTer27) c.548del (p.Leu183TrpfsTer27) c.941del (p.Leu314TrpfsTer27) c.*1040del (n.*1040del) c.959del (p.Leu320TrpfsTer27) c.*15del (n.*15del) | dbSNP |
19 | g.11422858A>C | CA404120604 | ODAD3 | c.1120T>G (p.Leu374Val) c.547T>G (p.Leu183Val) c.940T>G (p.Leu314Val) c.*1039T>G (n.*1039T>G) c.958T>G (p.Leu320Val) c.*14T>G (n.*14T>G) | |
19 | g.11422858A>G | CA505749561 | ODAD3 | c.1120T>C (p.Leu374=) c.547T>C (p.Leu183=) c.940T>C (p.Leu314=) c.*1039T>C (n.*1039T>C) c.958T>C (p.Leu320=) c.*14T>C (n.*14T>C) | |
19 | g.11422858A>T | CA404120606 | ODAD3 | c.1120T>A (p.Leu374Met) c.547T>A (p.Leu183Met) c.940T>A (p.Leu314Met) c.*1039T>A (n.*1039T>A) c.958T>A (p.Leu320Met) c.*14T>A (n.*14T>A) | |
19 | g.11422859C>A | CA505749563 | ODAD3 | c.1119G>T (p.Ser373=) c.546G>T (p.Ser182=) c.939G>T (p.Ser313=) c.*1038G>T (n.*1038G>T) c.957G>T (p.Ser319=) c.*13G>T (n.*13G>T) | |
19 | g.11422859C= | CA2322925055 | ODAD3 | c.1119G= (p.Ser373=) c.546G= (p.Ser182=) c.939G= (p.Ser313=) c.*1038G= (n.*1038G=) c.957G= (p.Ser319=) c.*13G= (n.*13G=) | |
19 | g.11422859C>G | CA505749565 | ODAD3 | c.1119G>C (p.Ser373=) c.546G>C (p.Ser182=) c.939G>C (p.Ser313=) c.*1038G>C (n.*1038G>C) c.957G>C (p.Ser319=) c.*13G>C (n.*13G>C) | gnomAD v4 |
19 | g.11422859C>T | CA505749566 | ODAD3 | c.1119G>A (p.Ser373=) c.546G>A (p.Ser182=) c.939G>A (p.Ser313=) c.*1038G>A (n.*1038G>A) c.957G>A (p.Ser319=) c.*13G>A (n.*13G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11422860G>A | CA404120608 | ODAD3 | c.1118C>T (p.Ser373Leu) c.545C>T (p.Ser182Leu) c.938C>T (p.Ser313Leu) c.*1037C>T (n.*1037C>T) c.956C>T (p.Ser319Leu) c.*12C>T (n.*12C>T) | |
19 | g.11422860G>C | CA404120610 | ODAD3 | c.1118C>G (p.Ser373Trp) c.545C>G (p.Ser182Trp) c.938C>G (p.Ser313Trp) c.*1037C>G (n.*1037C>G) c.956C>G (p.Ser319Trp) c.*12C>G (n.*12C>G) | dbSNP |
19 | g.11422860G= | CA2322925056 | ODAD3 | c.1118C= (p.Ser373=) c.545C= (p.Ser182=) c.938C= (p.Ser313=) c.*1037C= (n.*1037C=) c.956C= (p.Ser319=) c.*12C= (n.*12C=) | |
19 | g.11422860G>T | CA404120611 | ODAD3 | c.1118C>A (p.Ser373Ter) c.545C>A (p.Ser182Ter) c.938C>A (p.Ser313Ter) c.*1037C>A (n.*1037C>A) c.956C>A (p.Ser319Ter) c.*12C>A (n.*12C>A) | gnomAD v4 |
19 | g.11422861A>C | CA404120613 | ODAD3 | c.1117T>G (p.Ser373Ala) c.544T>G (p.Ser182Ala) c.937T>G (p.Ser313Ala) c.*1036T>G (n.*1036T>G) c.955T>G (p.Ser319Ala) c.*11T>G (n.*11T>G) | |
19 | g.11422861A>G | CA404120614 | ODAD3 | c.1117T>C (p.Ser373Pro) c.544T>C (p.Ser182Pro) c.937T>C (p.Ser313Pro) c.*1036T>C (n.*1036T>C) c.955T>C (p.Ser319Pro) c.*11T>C (n.*11T>C) | |
19 | g.11422861A>T | CA404120616 | ODAD3 | c.1117T>A (p.Ser373Thr) c.544T>A (p.Ser182Thr) c.937T>A (p.Ser313Thr) c.*1036T>A (n.*1036T>A) c.955T>A (p.Ser319Thr) c.*11T>A (n.*11T>A) | gnomAD v4 |
19 | g.11422862C>A | CA404120628 | ODAD3 | c.1117-1G>T (n.1117-1G>T) c.544-1G>T (n.544-1G>T) c.937-1G>T (n.937-1G>T) c.*1036-1G>T (n.*1036-1G>T) c.955-1G>T (n.955-1G>T) c.*11-1G>T (n.*11-1G>T) | |
19 | g.11422862C= | CA2322925057 | ODAD3 | c.1117-1G= (n.1117-1G=) c.544-1G= (n.544-1G=) c.937-1G= (n.937-1G=) c.*1036-1G= (n.*1036-1G=) c.955-1G= (n.955-1G=) c.*11-1G= (n.*11-1G=) | |
19 | g.11422862C>G | CA9212106 | ODAD3 | c.1117-1G>C (n.1117-1G>C) c.544-1G>C (n.544-1G>C) c.937-1G>C (n.937-1G>C) c.*1036-1G>C (n.*1036-1G>C) c.955-1G>C (n.955-1G>C) c.*11-1G>C (n.*11-1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422862C>T | CA404120618 | ODAD3 | c.1117-1G>A (n.1117-1G>A) c.544-1G>A (n.544-1G>A) c.937-1G>A (n.937-1G>A) c.*1036-1G>A (n.*1036-1G>A) c.955-1G>A (n.955-1G>A) c.*11-1G>A (n.*11-1G>A) | gnomAD v4 |
19 | g.11422863T>A | CA404120632 | ODAD3 | c.1117-2A>T (n.1117-2A>T) c.544-2A>T (n.544-2A>T) c.937-2A>T (n.937-2A>T) c.*1036-2A>T (n.*1036-2A>T) c.955-2A>T (n.955-2A>T) c.*11-2A>T (n.*11-2A>T) | |
19 | g.11422863T>C | CA404120633 | ODAD3 | c.1117-2A>G (n.1117-2A>G) c.544-2A>G (n.544-2A>G) c.937-2A>G (n.937-2A>G) c.*1036-2A>G (n.*1036-2A>G) c.955-2A>G (n.955-2A>G) c.*11-2A>G (n.*11-2A>G) | |
19 | g.11422863T>G | CA404120635 | ODAD3 | c.1117-2A>C (n.1117-2A>C) c.544-2A>C (n.544-2A>C) c.937-2A>C (n.937-2A>C) c.*1036-2A>C (n.*1036-2A>C) c.955-2A>C (n.955-2A>C) c.*11-2A>C (n.*11-2A>C) | dbSNP |
19 | g.11422863T= | CA2322925058 | ODAD3 | c.1117-2A= (n.1117-2A=) c.544-2A= (n.544-2A=) c.937-2A= (n.937-2A=) c.*1036-2A= (n.*1036-2A=) c.955-2A= (n.955-2A=) c.*11-2A= (n.*11-2A=) | |
19 | g.11422864G>T | CA2582529237 | ODAD3 | c.1117-3C>A (n.1117-3C>A) c.544-3C>A (n.544-3C>A) c.937-3C>A (n.937-3C>A) c.*1036-3C>A (n.*1036-3C>A) c.955-3C>A (n.955-3C>A) c.*11-3C>A (n.*11-3C>A) | gnomAD v4 |
19 | g.11422865C>A | CA632116912 | ODAD3 | c.1117-4G>T (n.1117-4G>T) c.544-4G>T (n.544-4G>T) c.937-4G>T (n.937-4G>T) c.*1036-4G>T (n.*1036-4G>T) c.955-4G>T (n.955-4G>T) c.*11-4G>T (n.*11-4G>T) | dbSNP gnomAD v2 |
19 | g.11422865C= | CA2322925059 | ODAD3 | c.1117-4G= (n.1117-4G=) c.544-4G= (n.544-4G=) c.937-4G= (n.937-4G=) c.*1036-4G= (n.*1036-4G=) c.955-4G= (n.955-4G=) c.*11-4G= (n.*11-4G=) | |
19 | g.11422865C>T | CA2582529238 | ODAD3 | c.1117-4G>A (n.1117-4G>A) c.544-4G>A (n.544-4G>A) c.937-4G>A (n.937-4G>A) c.*1036-4G>A (n.*1036-4G>A) c.955-4G>A (n.955-4G>A) c.*11-4G>A (n.*11-4G>A) | gnomAD v4 |
19 | g.11422866G>A | CA9212107 | ODAD3 | c.1117-5C>T (n.1117-5C>T) c.544-5C>T (n.544-5C>T) c.937-5C>T (n.937-5C>T) c.*1036-5C>T (n.*1036-5C>T) c.955-5C>T (n.955-5C>T) c.*11-5C>T (n.*11-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422866G>C | CA632116913 | ODAD3 | c.1117-5C>G (n.1117-5C>G) c.544-5C>G (n.544-5C>G) c.937-5C>G (n.937-5C>G) c.*1036-5C>G (n.*1036-5C>G) c.955-5C>G (n.955-5C>G) c.*11-5C>G (n.*11-5C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11422866G= | CA2322925060 | ODAD3 | c.1117-5C= (n.1117-5C=) c.544-5C= (n.544-5C=) c.937-5C= (n.937-5C=) c.*1036-5C= (n.*1036-5C=) c.955-5C= (n.955-5C=) c.*11-5C= (n.*11-5C=) | |
19 | g.11422866G>T | CA2582529239 | ODAD3 | c.1117-5C>A (n.1117-5C>A) c.544-5C>A (n.544-5C>A) c.937-5C>A (n.937-5C>A) c.*1036-5C>A (n.*1036-5C>A) c.955-5C>A (n.955-5C>A) c.*11-5C>A (n.*11-5C>A) | gnomAD v4 |
19 | g.11422867G>C | CA2576629759 | ODAD3 | c.1117-6C>G (n.1117-6C>G) c.544-6C>G (n.544-6C>G) c.937-6C>G (n.937-6C>G) c.*1036-6C>G (n.*1036-6C>G) c.955-6C>G (n.955-6C>G) c.*11-6C>G (n.*11-6C>G) | |
19 | g.11422867G>T | CA2582529240 | ODAD3 | c.1117-6C>A (n.1117-6C>A) c.544-6C>A (n.544-6C>A) c.937-6C>A (n.937-6C>A) c.*1036-6C>A (n.*1036-6C>A) c.955-6C>A (n.955-6C>A) c.*11-6C>A (n.*11-6C>A) | gnomAD v4 |
19 | g.11422867_11422869del | CA632116914 | ODAD3 | c.1117-8_1117-6del (n.1117-8_1117-6del) c.544-8_544-6del (n.544-8_544-6del) c.937-8_937-6del (n.937-8_937-6del) c.*1036-8_*1036-6del (n.*1036-8_*1036-6del) c.955-8_955-6del (n.955-8_955-6del) c.*11-8_*11-6del (n.*11-8_*11-6del) | gnomAD v2 gnomAD v4 |
19 | g.11422868G>A | CA2582529241 | ODAD3 | c.1117-7C>T (n.1117-7C>T) c.544-7C>T (n.544-7C>T) c.937-7C>T (n.937-7C>T) c.*1036-7C>T (n.*1036-7C>T) c.955-7C>T (n.955-7C>T) c.*11-7C>T (n.*11-7C>T) | gnomAD v4 |
19 | g.11422868G>T | CA2582529242 | ODAD3 | c.1117-7C>A (n.1117-7C>A) c.544-7C>A (n.544-7C>A) c.937-7C>A (n.937-7C>A) c.*1036-7C>A (n.*1036-7C>A) c.955-7C>A (n.955-7C>A) c.*11-7C>A (n.*11-7C>A) | gnomAD v4 |
19 | g.11422869C>A | CA2582529243 | ODAD3 | c.1117-8G>T (n.1117-8G>T) c.544-8G>T (n.544-8G>T) c.937-8G>T (n.937-8G>T) c.*1036-8G>T (n.*1036-8G>T) c.955-8G>T (n.955-8G>T) c.*11-8G>T (n.*11-8G>T) | gnomAD v4 |
19 | g.11422869C>T | CA2582529244 | ODAD3 | c.1117-8G>A (n.1117-8G>A) c.544-8G>A (n.544-8G>A) c.937-8G>A (n.937-8G>A) c.*1036-8G>A (n.*1036-8G>A) c.955-8G>A (n.955-8G>A) c.*11-8G>A (n.*11-8G>A) | gnomAD v4 |