Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11422700C>A | CA404120005 | ODAD3 | c.1277+1G>T (n.1277+1G>T) c.704+1G>T (n.704+1G>T) c.1097+1G>T (n.1097+1G>T) c.*1196+1G>T (n.*1196+1G>T) c.1115+1G>T (n.1115+1G>T) | |
19 | g.11422700C= | CA2322924981 | ODAD3 | c.1277+1G= (n.1277+1G=) c.704+1G= (n.704+1G=) c.1097+1G= (n.1097+1G=) c.*1196+1G= (n.*1196+1G=) c.1115+1G= (n.1115+1G=) | |
19 | g.11422700C>G | CA404120006 | ODAD3 | c.1277+1G>C (n.1277+1G>C) c.704+1G>C (n.704+1G>C) c.1097+1G>C (n.1097+1G>C) c.*1196+1G>C (n.*1196+1G>C) c.1115+1G>C (n.1115+1G>C) | |
19 | g.11422700C>T | CA404120008 | ODAD3 | c.1277+1G>A (n.1277+1G>A) c.704+1G>A (n.704+1G>A) c.1097+1G>A (n.1097+1G>A) c.*1196+1G>A (n.*1196+1G>A) c.1115+1G>A (n.1115+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11422701C>A | CA404120009 | ODAD3 | c.1277G>T (p.Ser426Ile) c.704G>T (p.Ser235Ile) c.1097G>T (p.Ser366Ile) c.*1196G>T (n.*1196G>T) c.1115G>T (p.Ser372Ile) | |
19 | g.11422701C= | CA2322924982 | ODAD3 | c.1277G= (p.Ser426=) c.704G= (p.Ser235=) c.1097G= (p.Ser366=) c.*1196G= (n.*1196G=) c.1115G= (p.Ser372=) | |
19 | g.11422701C>G | CA404120010 | ODAD3 | c.1277G>C (p.Ser426Thr) c.704G>C (p.Ser235Thr) c.1097G>C (p.Ser366Thr) c.*1196G>C (n.*1196G>C) c.1115G>C (p.Ser372Thr) | |
19 | g.11422701C>T | CA404120013 | ODAD3 | c.1277G>A (p.Ser426Asn) c.704G>A (p.Ser235Asn) c.1097G>A (p.Ser366Asn) c.*1196G>A (n.*1196G>A) c.1115G>A (p.Ser372Asn) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11422702T>A | CA404120014 | ODAD3 | c.1276A>T (p.Ser426Cys) c.703A>T (p.Ser235Cys) c.1096A>T (p.Ser366Cys) c.*1195A>T (n.*1195A>T) c.1114A>T (p.Ser372Cys) | |
19 | g.11422702T>C | CA404120018 | ODAD3 | c.1276A>G (p.Ser426Gly) c.703A>G (p.Ser235Gly) c.1096A>G (p.Ser366Gly) c.*1195A>G (n.*1195A>G) c.1114A>G (p.Ser372Gly) | |
19 | g.11422702T>G | CA404120016 | ODAD3 | c.1276A>C (p.Ser426Arg) c.703A>C (p.Ser235Arg) c.1096A>C (p.Ser366Arg) c.*1195A>C (n.*1195A>C) c.1114A>C (p.Ser372Arg) | |
19 | g.11422703C>A | CA505749448 | ODAD3 | c.1275G>T (p.Val425=) c.702G>T (p.Val234=) c.1095G>T (p.Val365=) c.*1194G>T (n.*1194G>T) c.1113G>T (p.Val371=) | |
19 | g.11422703C= | CA2322924983 | ODAD3 | c.1275G= (p.Val425=) c.702G= (p.Val234=) c.1095G= (p.Val365=) c.*1194G= (n.*1194G=) c.1113G= (p.Val371=) | |
19 | g.11422703C>G | CA505749446 | ODAD3 | c.1275G>C (p.Val425=) c.702G>C (p.Val234=) c.1095G>C (p.Val365=) c.*1194G>C (n.*1194G>C) c.1113G>C (p.Val371=) | |
19 | g.11422703C>T | CA505749447 | ODAD3 | c.1275G>A (p.Val425=) c.702G>A (p.Val234=) c.1095G>A (p.Val365=) c.*1194G>A (n.*1194G>A) c.1113G>A (p.Val371=) | ClinVar dbSNP gnomAD v4 |
19 | g.11422704A>C | CA404120020 | ODAD3 | c.1274T>G (p.Val425Gly) c.701T>G (p.Val234Gly) c.1094T>G (p.Val365Gly) c.*1193T>G (n.*1193T>G) c.1112T>G (p.Val371Gly) | |
19 | g.11422704A>G | CA404120021 | ODAD3 | c.1274T>C (p.Val425Ala) c.701T>C (p.Val234Ala) c.1094T>C (p.Val365Ala) c.*1193T>C (n.*1193T>C) c.1112T>C (p.Val371Ala) | |
19 | g.11422704A>T | CA404120023 | ODAD3 | c.1274T>A (p.Val425Glu) c.701T>A (p.Val234Glu) c.1094T>A (p.Val365Glu) c.*1193T>A (n.*1193T>A) c.1112T>A (p.Val371Glu) | |
19 | g.11422705C>A | CA404120025 | ODAD3 | c.1273G>T (p.Val425Leu) c.700G>T (p.Val234Leu) c.1093G>T (p.Val365Leu) c.*1192G>T (n.*1192G>T) c.1111G>T (p.Val371Leu) | COSMIC |
19 | g.11422705C>G | CA404120027 | ODAD3 | c.1273G>C (p.Val425Leu) c.700G>C (p.Val234Leu) c.1093G>C (p.Val365Leu) c.*1192G>C (n.*1192G>C) c.1111G>C (p.Val371Leu) | gnomAD v4 |
19 | g.11422705C>T | CA404120028 | ODAD3 | c.1273G>A (p.Val425Met) c.700G>A (p.Val234Met) c.1093G>A (p.Val365Met) c.*1192G>A (n.*1192G>A) c.1111G>A (p.Val371Met) | gnomAD v4 |
19 | g.11422706C>A | CA505749449 | ODAD3 | c.1272G>T (p.Leu424=) c.699G>T (p.Leu233=) c.1092G>T (p.Leu364=) c.*1191G>T (n.*1191G>T) c.1110G>T (p.Leu370=) | |
19 | g.11422706C>G | CA505749450 | ODAD3 | c.1272G>C (p.Leu424=) c.699G>C (p.Leu233=) c.1092G>C (p.Leu364=) c.*1191G>C (n.*1191G>C) c.1110G>C (p.Leu370=) | |
19 | g.11422706C>T | CA505749451 | ODAD3 | c.1272G>A (p.Leu424=) c.699G>A (p.Leu233=) c.1092G>A (p.Leu364=) c.*1191G>A (n.*1191G>A) c.1110G>A (p.Leu370=) | gnomAD v4 |
19 | g.11422707A>C | CA404120030 | ODAD3 | c.1271T>G (p.Leu424Arg) c.698T>G (p.Leu233Arg) c.1091T>G (p.Leu364Arg) c.*1190T>G (n.*1190T>G) c.1109T>G (p.Leu370Arg) | |
19 | g.11422707A>G | CA404120032 | ODAD3 | c.1271T>C (p.Leu424Pro) c.698T>C (p.Leu233Pro) c.1091T>C (p.Leu364Pro) c.*1190T>C (n.*1190T>C) c.1109T>C (p.Leu370Pro) | |
19 | g.11422707A>T | CA404120033 | ODAD3 | c.1271T>A (p.Leu424Gln) c.698T>A (p.Leu233Gln) c.1091T>A (p.Leu364Gln) c.*1190T>A (n.*1190T>A) c.1109T>A (p.Leu370Gln) | |
19 | g.11422708G>A | CA505749452 | ODAD3 | c.1270C>T (p.Leu424=) c.697C>T (p.Leu233=) c.1090C>T (p.Leu364=) c.*1189C>T (n.*1189C>T) c.1108C>T (p.Leu370=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422708G>C | CA404120034 | ODAD3 | c.1270C>G (p.Leu424Val) c.697C>G (p.Leu233Val) c.1090C>G (p.Leu364Val) c.*1189C>G (n.*1189C>G) c.1108C>G (p.Leu370Val) | gnomAD v4 |
19 | g.11422708G= | CA2322924984 | ODAD3 | c.1270C= (p.Leu424=) c.697C= (p.Leu233=) c.1090C= (p.Leu364=) c.*1189C= (n.*1189C=) c.1108C= (p.Leu370=) | |
19 | g.11422708G>T | CA404120035 | ODAD3 | c.1270C>A (p.Leu424Met) c.697C>A (p.Leu233Met) c.1090C>A (p.Leu364Met) c.*1189C>A (n.*1189C>A) c.1108C>A (p.Leu370Met) | gnomAD v4 |
19 | g.11422709C>A | CA505749453 | ODAD3 | c.1269G>T (p.Thr423=) c.696G>T (p.Thr232=) c.1089G>T (p.Thr363=) c.*1188G>T (n.*1188G>T) c.1107G>T (p.Thr369=) | |
19 | g.11422709C= | CA2322924985 | ODAD3 | c.1269G= (p.Thr423=) c.696G= (p.Thr232=) c.1089G= (p.Thr363=) c.*1188G= (n.*1188G=) c.1107G= (p.Thr369=) | |
19 | g.11422709C>G | CA505749454 | ODAD3 | c.1269G>C (p.Thr423=) c.696G>C (p.Thr232=) c.1089G>C (p.Thr363=) c.*1188G>C (n.*1188G>C) c.1107G>C (p.Thr369=) | |
19 | g.11422709C>T | CA9212075 | ODAD3 | c.1269G>A (p.Thr423=) c.696G>A (p.Thr232=) c.1089G>A (p.Thr363=) c.*1188G>A (n.*1188G>A) c.1107G>A (p.Thr369=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422710G>A | CA404120037 | ODAD3 | c.1268C>T (p.Thr423Met) c.695C>T (p.Thr232Met) c.1088C>T (p.Thr363Met) c.*1187C>T (n.*1187C>T) c.1106C>T (p.Thr369Met) | dbSNP |
19 | g.11422710G>C | CA404120041 | ODAD3 | c.1268C>G (p.Thr423Arg) c.695C>G (p.Thr232Arg) c.1088C>G (p.Thr363Arg) c.*1187C>G (n.*1187C>G) c.1106C>G (p.Thr369Arg) | |
19 | g.11422710G= | CA2322924986 | ODAD3 | c.1268C= (p.Thr423=) c.695C= (p.Thr232=) c.1088C= (p.Thr363=) c.*1187C= (n.*1187C=) c.1106C= (p.Thr369=) | |
19 | g.11422710G>T | CA404120039 | ODAD3 | c.1268C>A (p.Thr423Lys) c.695C>A (p.Thr232Lys) c.1088C>A (p.Thr363Lys) c.*1187C>A (n.*1187C>A) c.1106C>A (p.Thr369Lys) | |
19 | g.11422711T>A | CA404120042 | ODAD3 | c.1267A>T (p.Thr423Ser) c.694A>T (p.Thr232Ser) c.1087A>T (p.Thr363Ser) c.*1186A>T (n.*1186A>T) c.1105A>T (p.Thr369Ser) | |
19 | g.11422711T>C | CA404120044 | ODAD3 | c.1267A>G (p.Thr423Ala) c.694A>G (p.Thr232Ala) c.1087A>G (p.Thr363Ala) c.*1186A>G (n.*1186A>G) c.1105A>G (p.Thr369Ala) | |
19 | g.11422711T>G | CA404120046 | ODAD3 | c.1267A>C (p.Thr423Pro) c.694A>C (p.Thr232Pro) c.1087A>C (p.Thr363Pro) c.*1186A>C (n.*1186A>C) c.1105A>C (p.Thr369Pro) | |
19 | g.11422712G>A | CA9212076 | ODAD3 | c.1266C>T (p.Ala422=) c.693C>T (p.Ala231=) c.1086C>T (p.Ala362=) c.*1185C>T (n.*1185C>T) c.1104C>T (p.Ala368=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422712G>C | CA505749456 | ODAD3 | c.1266C>G (p.Ala422=) c.693C>G (p.Ala231=) c.1086C>G (p.Ala362=) c.*1185C>G (n.*1185C>G) c.1104C>G (p.Ala368=) | |
19 | g.11422712G= | CA2322924987 | ODAD3 | c.1266C= (p.Ala422=) c.693C= (p.Ala231=) c.1086C= (p.Ala362=) c.*1185C= (n.*1185C=) c.1104C= (p.Ala368=) | |
19 | g.11422712G>T | CA505749455 | ODAD3 | c.1266C>A (p.Ala422=) c.693C>A (p.Ala231=) c.1086C>A (p.Ala362=) c.*1185C>A (n.*1185C>A) c.1104C>A (p.Ala368=) | gnomAD v4 |
19 | g.11422713G>A | CA404120049 | ODAD3 | c.1265C>T (p.Ala422Val) c.692C>T (p.Ala231Val) c.1085C>T (p.Ala362Val) c.*1184C>T (n.*1184C>T) c.1103C>T (p.Ala368Val) | |
19 | g.11422713G>C | CA404120051 | ODAD3 | c.1265C>G (p.Ala422Gly) c.692C>G (p.Ala231Gly) c.1085C>G (p.Ala362Gly) c.*1184C>G (n.*1184C>G) c.1103C>G (p.Ala368Gly) | |
19 | g.11422713G>T | CA404120053 | ODAD3 | c.1265C>A (p.Ala422Asp) c.692C>A (p.Ala231Asp) c.1085C>A (p.Ala362Asp) c.*1184C>A (n.*1184C>A) c.1103C>A (p.Ala368Asp) | |
19 | g.11422714C>A | CA404120054 | ODAD3 | c.1264G>T (p.Ala422Ser) c.691G>T (p.Ala231Ser) c.1084G>T (p.Ala362Ser) c.*1183G>T (n.*1183G>T) c.1102G>T (p.Ala368Ser) | |
19 | g.11422714C>G | CA404120056 | ODAD3 | c.1264G>C (p.Ala422Pro) c.691G>C (p.Ala231Pro) c.1084G>C (p.Ala362Pro) c.*1183G>C (n.*1183G>C) c.1102G>C (p.Ala368Pro) | |
19 | g.11422714C>T | CA404120058 | ODAD3 | c.1264G>A (p.Ala422Thr) c.691G>A (p.Ala231Thr) c.1084G>A (p.Ala362Thr) c.*1183G>A (n.*1183G>A) c.1102G>A (p.Ala368Thr) | gnomAD v4 |
19 | g.11422715C>A | CA404120060 | ODAD3 | c.1263G>T (p.Glu421Asp) c.690G>T (p.Glu230Asp) c.1083G>T (p.Glu361Asp) c.*1182G>T (n.*1182G>T) c.1101G>T (p.Glu367Asp) | |
19 | g.11422715C>G | CA404120061 | ODAD3 | c.1263G>C (p.Glu421Asp) c.690G>C (p.Glu230Asp) c.1083G>C (p.Glu361Asp) c.*1182G>C (n.*1182G>C) c.1101G>C (p.Glu367Asp) | gnomAD v4 |
19 | g.11422715C>T | CA505749457 | ODAD3 | c.1263G>A (p.Glu421=) c.690G>A (p.Glu230=) c.1083G>A (p.Glu361=) c.*1182G>A (n.*1182G>A) c.1101G>A (p.Glu367=) | gnomAD v4 |
19 | g.11422716T>A | CA404120067 | ODAD3 | c.1262A>T (p.Glu421Val) c.689A>T (p.Glu230Val) c.1082A>T (p.Glu361Val) c.*1181A>T (n.*1181A>T) c.1100A>T (p.Glu367Val) | |
19 | g.11422716T>C | CA404120065 | ODAD3 | c.1262A>G (p.Glu421Gly) c.689A>G (p.Glu230Gly) c.1082A>G (p.Glu361Gly) c.*1181A>G (n.*1181A>G) c.1100A>G (p.Glu367Gly) | gnomAD v4 |
19 | g.11422716T>G | CA404120064 | ODAD3 | c.1262A>C (p.Glu421Ala) c.689A>C (p.Glu230Ala) c.1082A>C (p.Glu361Ala) c.*1181A>C (n.*1181A>C) c.1100A>C (p.Glu367Ala) | |
19 | g.11422717C>A | CA404120068 | ODAD3 | c.1261G>T (p.Glu421Ter) c.688G>T (p.Glu230Ter) c.1081G>T (p.Glu361Ter) c.*1180G>T (n.*1180G>T) c.1099G>T (p.Glu367Ter) | |
19 | g.11422717C>G | CA404120070 | ODAD3 | c.1261G>C (p.Glu421Gln) c.688G>C (p.Glu230Gln) c.1081G>C (p.Glu361Gln) c.*1180G>C (n.*1180G>C) c.1099G>C (p.Glu367Gln) | |
19 | g.11422717C>T | CA404120072 | ODAD3 | c.1261G>A (p.Glu421Lys) c.688G>A (p.Glu230Lys) c.1081G>A (p.Glu361Lys) c.*1180G>A (n.*1180G>A) c.1099G>A (p.Glu367Lys) | gnomAD v4 COSMIC |
19 | g.11422718C>A | CA505749458 | ODAD3 | c.1260G>T (p.Gly420=) c.687G>T (p.Gly229=) c.1080G>T (p.Gly360=) c.*1179G>T (n.*1179G>T) c.1098G>T (p.Gly366=) | |
19 | g.11422718C>G | CA505749459 | ODAD3 | c.1260G>C (p.Gly420=) c.687G>C (p.Gly229=) c.1080G>C (p.Gly360=) c.*1179G>C (n.*1179G>C) c.1098G>C (p.Gly366=) | |
19 | g.11422718C>T | CA505749460 | ODAD3 | c.1260G>A (p.Gly420=) c.687G>A (p.Gly229=) c.1080G>A (p.Gly360=) c.*1179G>A (n.*1179G>A) c.1098G>A (p.Gly366=) | gnomAD v4 |
19 | g.11422719C>A | CA404120073 | ODAD3 | c.1259G>T (p.Gly420Val) c.686G>T (p.Gly229Val) c.1079G>T (p.Gly360Val) c.*1178G>T (n.*1178G>T) c.1097G>T (p.Gly366Val) | gnomAD v4 |
19 | g.11422719C= | CA2322924988 | ODAD3 | c.1259G= (p.Gly420=) c.686G= (p.Gly229=) c.1079G= (p.Gly360=) c.*1178G= (n.*1178G=) c.1097G= (p.Gly366=) | |
19 | g.11422719C>G | CA9212077 | ODAD3 | c.1259G>C (p.Gly420Ala) c.686G>C (p.Gly229Ala) c.1079G>C (p.Gly360Ala) c.*1178G>C (n.*1178G>C) c.1097G>C (p.Gly366Ala) | dbSNP ExAC |
19 | g.11422719C>T | CA404120075 | ODAD3 | c.1259G>A (p.Gly420Glu) c.686G>A (p.Gly229Glu) c.1079G>A (p.Gly360Glu) c.*1178G>A (n.*1178G>A) c.1097G>A (p.Gly366Glu) | |
19 | g.11422720C>A | CA404120077 | ODAD3 | c.1258G>T (p.Gly420Trp) c.685G>T (p.Gly229Trp) c.1078G>T (p.Gly360Trp) c.*1177G>T (n.*1177G>T) c.1096G>T (p.Gly366Trp) | |
19 | g.11422720C>G | CA404120079 | ODAD3 | c.1258G>C (p.Gly420Arg) c.685G>C (p.Gly229Arg) c.1078G>C (p.Gly360Arg) c.*1177G>C (n.*1177G>C) c.1096G>C (p.Gly366Arg) | |
19 | g.11422720C>T | CA404120081 | ODAD3 | c.1258G>A (p.Gly420Arg) c.685G>A (p.Gly229Arg) c.1078G>A (p.Gly360Arg) c.*1177G>A (n.*1177G>A) c.1096G>A (p.Gly366Arg) | |
19 | g.11422721C>A | CA505749461 | ODAD3 | c.1257G>T (p.Ser419=) c.684G>T (p.Ser228=) c.1077G>T (p.Ser359=) c.*1176G>T (n.*1176G>T) c.1095G>T (p.Ser365=) | |
19 | g.11422721C= | CA2322924989 | ODAD3 | c.1257G= (p.Ser419=) c.684G= (p.Ser228=) c.1077G= (p.Ser359=) c.*1176G= (n.*1176G=) c.1095G= (p.Ser365=) | |
19 | g.11422721C>G | CA505749462 | ODAD3 | c.1257G>C (p.Ser419=) c.684G>C (p.Ser228=) c.1077G>C (p.Ser359=) c.*1176G>C (n.*1176G>C) c.1095G>C (p.Ser365=) | |
19 | g.11422721C>T | CA505749463 | ODAD3 | c.1257G>A (p.Ser419=) c.684G>A (p.Ser228=) c.1077G>A (p.Ser359=) c.*1176G>A (n.*1176G>A) c.1095G>A (p.Ser365=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422722G>A | CA305327181 | ODAD3 | c.1256C>T (p.Ser419Leu) c.683C>T (p.Ser228Leu) c.1076C>T (p.Ser359Leu) c.*1175C>T (n.*1175C>T) c.1094C>T (p.Ser365Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422722G>C | CA404120082 | ODAD3 | c.1256C>G (p.Ser419Trp) c.683C>G (p.Ser228Trp) c.1076C>G (p.Ser359Trp) c.*1175C>G (n.*1175C>G) c.1094C>G (p.Ser365Trp) | |
19 | g.11422722G= | CA2322924990 | ODAD3 | c.1256C= (p.Ser419=) c.683C= (p.Ser228=) c.1076C= (p.Ser359=) c.*1175C= (n.*1175C=) c.1094C= (p.Ser365=) | |
19 | g.11422722G>T | CA170853 | ODAD3 | c.1256C>A (p.Ser419Ter) c.683C>A (p.Ser228Ter) c.1076C>A (p.Ser359Ter) c.*1175C>A (n.*1175C>A) c.1094C>A (p.Ser365Ter) | ClinVar dbSNP gnomAD v4 |
19 | g.11422723A>C | CA404120088 | ODAD3 | c.1255T>G (p.Ser419Ala) c.682T>G (p.Ser228Ala) c.1075T>G (p.Ser359Ala) c.*1174T>G (n.*1174T>G) c.1093T>G (p.Ser365Ala) | |
19 | g.11422723A>G | CA404120087 | ODAD3 | c.1255T>C (p.Ser419Pro) c.682T>C (p.Ser228Pro) c.1075T>C (p.Ser359Pro) c.*1174T>C (n.*1174T>C) c.1093T>C (p.Ser365Pro) | |
19 | g.11422723A>T | CA404120085 | ODAD3 | c.1255T>A (p.Ser419Thr) c.682T>A (p.Ser228Thr) c.1075T>A (p.Ser359Thr) c.*1174T>A (n.*1174T>A) c.1093T>A (p.Ser365Thr) | |
19 | g.11422724G>A | CA9212078 | ODAD3 | c.1254C>T (p.Tyr418=) c.681C>T (p.Tyr227=) c.1074C>T (p.Tyr358=) c.*1173C>T (n.*1173C>T) c.1092C>T (p.Tyr364=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422724G>C | CA404120093 | ODAD3 | c.1254C>G (p.Tyr418Ter) c.681C>G (p.Tyr227Ter) c.1074C>G (p.Tyr358Ter) c.*1173C>G (n.*1173C>G) c.1092C>G (p.Tyr364Ter) | |
19 | g.11422724G= | CA2322924991 | ODAD3 | c.1254C= (p.Tyr418=) c.681C= (p.Tyr227=) c.1074C= (p.Tyr358=) c.*1173C= (n.*1173C=) c.1092C= (p.Tyr364=) | |
19 | g.11422724G>T | CA404120091 | ODAD3 | c.1254C>A (p.Tyr418Ter) c.681C>A (p.Tyr227Ter) c.1074C>A (p.Tyr358Ter) c.*1173C>A (n.*1173C>A) c.1092C>A (p.Tyr364Ter) | gnomAD v4 |
19 | g.11422725T>A | CA404120094 | ODAD3 | c.1253A>T (p.Tyr418Phe) c.680A>T (p.Tyr227Phe) c.1073A>T (p.Tyr358Phe) c.*1172A>T (n.*1172A>T) c.1091A>T (p.Tyr364Phe) | |
19 | g.11422725T>C | CA404120095 | ODAD3 | c.1253A>G (p.Tyr418Cys) c.680A>G (p.Tyr227Cys) c.1073A>G (p.Tyr358Cys) c.*1172A>G (n.*1172A>G) c.1091A>G (p.Tyr364Cys) | |
19 | g.11422725T>G | CA404120096 | ODAD3 | c.1253A>C (p.Tyr418Ser) c.680A>C (p.Tyr227Ser) c.1073A>C (p.Tyr358Ser) c.*1172A>C (n.*1172A>C) c.1091A>C (p.Tyr364Ser) | |
19 | g.11422726A>C | CA404120097 | ODAD3 | c.1252T>G (p.Tyr418Asp) c.679T>G (p.Tyr227Asp) c.1072T>G (p.Tyr358Asp) c.*1171T>G (n.*1171T>G) c.1090T>G (p.Tyr364Asp) | |
19 | g.11422726A>G | CA404120099 | ODAD3 | c.1252T>C (p.Tyr418His) c.679T>C (p.Tyr227His) c.1072T>C (p.Tyr358His) c.*1171T>C (n.*1171T>C) c.1090T>C (p.Tyr364His) | |
19 | g.11422726A>T | CA404120101 | ODAD3 | c.1252T>A (p.Tyr418Asn) c.679T>A (p.Tyr227Asn) c.1072T>A (p.Tyr358Asn) c.*1171T>A (n.*1171T>A) c.1090T>A (p.Tyr364Asn) | |
19 | g.11422727C>A | CA404120103 | ODAD3 | c.1251G>T (p.Lys417Asn) c.678G>T (p.Lys226Asn) c.1071G>T (p.Lys357Asn) c.*1170G>T (n.*1170G>T) c.1089G>T (p.Lys363Asn) | |
19 | g.11422727C>G | CA404120104 | ODAD3 | c.1251G>C (p.Lys417Asn) c.678G>C (p.Lys226Asn) c.1071G>C (p.Lys357Asn) c.*1170G>C (n.*1170G>C) c.1089G>C (p.Lys363Asn) | |
19 | g.11422727C>T | CA505749464 | ODAD3 | c.1251G>A (p.Lys417=) c.678G>A (p.Lys226=) c.1071G>A (p.Lys357=) c.*1170G>A (n.*1170G>A) c.1089G>A (p.Lys363=) | gnomAD v4 |
19 | g.11422728T>A | CA404120106 | ODAD3 | c.1250A>T (p.Lys417Met) c.677A>T (p.Lys226Met) c.1070A>T (p.Lys357Met) c.*1169A>T (n.*1169A>T) c.1088A>T (p.Lys363Met) | |
19 | g.11422728T>C | CA404120109 | ODAD3 | c.1250A>G (p.Lys417Arg) c.677A>G (p.Lys226Arg) c.1070A>G (p.Lys357Arg) c.*1169A>G (n.*1169A>G) c.1088A>G (p.Lys363Arg) | gnomAD v4 |
19 | g.11422728T>G | CA404120111 | ODAD3 | c.1250A>C (p.Lys417Thr) c.677A>C (p.Lys226Thr) c.1070A>C (p.Lys357Thr) c.*1169A>C (n.*1169A>C) c.1088A>C (p.Lys363Thr) | |
19 | g.11422729T>A | CA404120113 | ODAD3 | c.1249A>T (p.Lys417Ter) c.676A>T (p.Lys226Ter) c.1069A>T (p.Lys357Ter) c.*1168A>T (n.*1168A>T) c.1087A>T (p.Lys363Ter) | |
19 | g.11422729T>C | CA404120115 | ODAD3 | c.1249A>G (p.Lys417Glu) c.676A>G (p.Lys226Glu) c.1069A>G (p.Lys357Glu) c.*1168A>G (n.*1168A>G) c.1087A>G (p.Lys363Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422729T>G | CA404120116 | ODAD3 | c.1249A>C (p.Lys417Gln) c.676A>C (p.Lys226Gln) c.1069A>C (p.Lys357Gln) c.*1168A>C (n.*1168A>C) c.1087A>C (p.Lys363Gln) | gnomAD v4 |
19 | g.11422729T= | CA2322924992 | ODAD3 | c.1249A= (p.Lys417=) c.676A= (p.Lys226=) c.1069A= (p.Lys357=) c.*1168A= (n.*1168A=) c.1087A= (p.Lys363=) | |
19 | g.11422730G>A | CA505749465 | ODAD3 | c.1248C>T (p.Leu416=) c.675C>T (p.Leu225=) c.1068C>T (p.Leu356=) c.*1167C>T (n.*1167C>T) c.1086C>T (p.Leu362=) | dbSNP gnomAD v4 |
19 | g.11422730G>C | CA505749466 | ODAD3 | c.1248C>G (p.Leu416=) c.675C>G (p.Leu225=) c.1068C>G (p.Leu356=) c.*1167C>G (n.*1167C>G) c.1086C>G (p.Leu362=) | |
19 | g.11422730G= | CA2322924993 | ODAD3 | c.1248C= (p.Leu416=) c.675C= (p.Leu225=) c.1068C= (p.Leu356=) c.*1167C= (n.*1167C=) c.1086C= (p.Leu362=) | |
19 | g.11422730G>T | CA505749467 | ODAD3 | c.1248C>A (p.Leu416=) c.675C>A (p.Leu225=) c.1068C>A (p.Leu356=) c.*1167C>A (n.*1167C>A) c.1086C>A (p.Leu362=) | gnomAD v4 |
19 | g.11422731A>C | CA404120121 | ODAD3 | c.1247T>G (p.Leu416Arg) c.674T>G (p.Leu225Arg) c.1067T>G (p.Leu356Arg) c.*1166T>G (n.*1166T>G) c.1085T>G (p.Leu362Arg) | |
19 | g.11422731A>G | CA404120119 | ODAD3 | c.1247T>C (p.Leu416Pro) c.674T>C (p.Leu225Pro) c.1067T>C (p.Leu356Pro) c.*1166T>C (n.*1166T>C) c.1085T>C (p.Leu362Pro) | |
19 | g.11422731A>T | CA404120118 | ODAD3 | c.1247T>A (p.Leu416His) c.674T>A (p.Leu225His) c.1067T>A (p.Leu356His) c.*1166T>A (n.*1166T>A) c.1085T>A (p.Leu362His) | |
19 | g.11422732G>A | CA305327191 | ODAD3 | c.1246C>T (p.Leu416Phe) c.673C>T (p.Leu225Phe) c.1066C>T (p.Leu356Phe) c.*1165C>T (n.*1165C>T) c.1084C>T (p.Leu362Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11422732G>C | CA404120124 | ODAD3 | c.1246C>G (p.Leu416Val) c.673C>G (p.Leu225Val) c.1066C>G (p.Leu356Val) c.*1165C>G (n.*1165C>G) c.1084C>G (p.Leu362Val) | |
19 | g.11422732G= | CA2322924994 | ODAD3 | c.1246C= (p.Leu416=) c.673C= (p.Leu225=) c.1066C= (p.Leu356=) c.*1165C= (n.*1165C=) c.1084C= (p.Leu362=) | |
19 | g.11422732G>T | CA404120125 | ODAD3 | c.1246C>A (p.Leu416Ile) c.673C>A (p.Leu225Ile) c.1066C>A (p.Leu356Ile) c.*1165C>A (n.*1165C>A) c.1084C>A (p.Leu362Ile) | gnomAD v4 |
19 | g.11422733G>A | CA9212079 | ODAD3 | c.1245C>T (p.Asp415=) c.672C>T (p.Asp224=) c.1065C>T (p.Asp355=) c.*1164C>T (n.*1164C>T) c.1083C>T (p.Asp361=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422733G>C | CA404120128 | ODAD3 | c.1245C>G (p.Asp415Glu) c.672C>G (p.Asp224Glu) c.1065C>G (p.Asp355Glu) c.*1164C>G (n.*1164C>G) c.1083C>G (p.Asp361Glu) | |
19 | g.11422733G= | CA2322924995 | ODAD3 | c.1245C= (p.Asp415=) c.672C= (p.Asp224=) c.1065C= (p.Asp355=) c.*1164C= (n.*1164C=) c.1083C= (p.Asp361=) | |
19 | g.11422733G>T | CA404120130 | ODAD3 | c.1245C>A (p.Asp415Glu) c.672C>A (p.Asp224Glu) c.1065C>A (p.Asp355Glu) c.*1164C>A (n.*1164C>A) c.1083C>A (p.Asp361Glu) | |
19 | g.11422734T>A | CA404120132 | ODAD3 | c.1244A>T (p.Asp415Val) c.671A>T (p.Asp224Val) c.1064A>T (p.Asp355Val) c.*1163A>T (n.*1163A>T) c.1082A>T (p.Asp361Val) | |
19 | g.11422734T>C | CA404120133 | ODAD3 | c.1244A>G (p.Asp415Gly) c.671A>G (p.Asp224Gly) c.1064A>G (p.Asp355Gly) c.*1163A>G (n.*1163A>G) c.1082A>G (p.Asp361Gly) | |
19 | g.11422734T>G | CA404120135 | ODAD3 | c.1244A>C (p.Asp415Ala) c.671A>C (p.Asp224Ala) c.1064A>C (p.Asp355Ala) c.*1163A>C (n.*1163A>C) c.1082A>C (p.Asp361Ala) | |
19 | g.11422735C>A | CA404120136 | ODAD3 | c.1243G>T (p.Asp415Tyr) c.670G>T (p.Asp224Tyr) c.1063G>T (p.Asp355Tyr) c.*1162G>T (n.*1162G>T) c.1081G>T (p.Asp361Tyr) | gnomAD v4 |
19 | g.11422735C>G | CA404120138 | ODAD3 | c.1243G>C (p.Asp415His) c.670G>C (p.Asp224His) c.1063G>C (p.Asp355His) c.*1162G>C (n.*1162G>C) c.1081G>C (p.Asp361His) | |
19 | g.11422735C>T | CA404120140 | ODAD3 | c.1243G>A (p.Asp415Asn) c.670G>A (p.Asp224Asn) c.1063G>A (p.Asp355Asn) c.*1162G>A (n.*1162G>A) c.1081G>A (p.Asp361Asn) | |
19 | g.11422736T>A | CA404120141 | ODAD3 | c.1242A>T (p.Glu414Asp) c.669A>T (p.Glu223Asp) c.1062A>T (p.Glu354Asp) c.*1161A>T (n.*1161A>T) c.1080A>T (p.Glu360Asp) | |
19 | g.11422736T>C | CA505749468 | ODAD3 | c.1242A>G (p.Glu414=) c.669A>G (p.Glu223=) c.1062A>G (p.Glu354=) c.*1161A>G (n.*1161A>G) c.1080A>G (p.Glu360=) | |
19 | g.11422736T>G | CA404120142 | ODAD3 | c.1242A>C (p.Glu414Asp) c.669A>C (p.Glu223Asp) c.1062A>C (p.Glu354Asp) c.*1161A>C (n.*1161A>C) c.1080A>C (p.Glu360Asp) | |
19 | g.11422737T>A | CA404120146 | ODAD3 | c.1241A>T (p.Glu414Val) c.668A>T (p.Glu223Val) c.1061A>T (p.Glu354Val) c.*1160A>T (n.*1160A>T) c.1079A>T (p.Glu360Val) | |
19 | g.11422737T>C | CA404120145 | ODAD3 | c.1241A>G (p.Glu414Gly) c.668A>G (p.Glu223Gly) c.1061A>G (p.Glu354Gly) c.*1160A>G (n.*1160A>G) c.1079A>G (p.Glu360Gly) | |
19 | g.11422737T>G | CA404120143 | ODAD3 | c.1241A>C (p.Glu414Ala) c.668A>C (p.Glu223Ala) c.1061A>C (p.Glu354Ala) c.*1160A>C (n.*1160A>C) c.1079A>C (p.Glu360Ala) | |
19 | g.11422738C>A | CA404120148 | ODAD3 | c.1240G>T (p.Glu414Ter) c.667G>T (p.Glu223Ter) c.1060G>T (p.Glu354Ter) c.*1159G>T (n.*1159G>T) c.1078G>T (p.Glu360Ter) | |
19 | g.11422738C= | CA2322924996 | ODAD3 | c.1240G= (p.Glu414=) c.667G= (p.Glu223=) c.1060G= (p.Glu354=) c.*1159G= (n.*1159G=) c.1078G= (p.Glu360=) | |
19 | g.11422738C>G | CA404120149 | ODAD3 | c.1240G>C (p.Glu414Gln) c.667G>C (p.Glu223Gln) c.1060G>C (p.Glu354Gln) c.*1159G>C (n.*1159G>C) c.1078G>C (p.Glu360Gln) | |
19 | g.11422738C>T | CA9212080 | ODAD3 | c.1240G>A (p.Glu414Lys) c.667G>A (p.Glu223Lys) c.1060G>A (p.Glu354Lys) c.*1159G>A (n.*1159G>A) c.1078G>A (p.Glu360Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.11422739C>A | CA505749469 | ODAD3 | c.1239G>T (p.Leu413=) c.666G>T (p.Leu222=) c.1059G>T (p.Leu353=) c.*1158G>T (n.*1158G>T) c.1077G>T (p.Leu359=) | |
19 | g.11422739C= | CA2322924997 | ODAD3 | c.1239G= (p.Leu413=) c.666G= (p.Leu222=) c.1059G= (p.Leu353=) c.*1158G= (n.*1158G=) c.1077G= (p.Leu359=) | |
19 | g.11422739C>G | CA505749470 | ODAD3 | c.1239G>C (p.Leu413=) c.666G>C (p.Leu222=) c.1059G>C (p.Leu353=) c.*1158G>C (n.*1158G>C) c.1077G>C (p.Leu359=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422739C>T | CA305327216 | ODAD3 | c.1239G>A (p.Leu413=) c.666G>A (p.Leu222=) c.1059G>A (p.Leu353=) c.*1158G>A (n.*1158G>A) c.1077G>A (p.Leu359=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422740A>C | CA404120151 | ODAD3 | c.1238T>G (p.Leu413Arg) c.665T>G (p.Leu222Arg) c.1058T>G (p.Leu353Arg) c.*1157T>G (n.*1157T>G) c.1076T>G (p.Leu359Arg) | |
19 | g.11422740A>G | CA404120152 | ODAD3 | c.1238T>C (p.Leu413Pro) c.665T>C (p.Leu222Pro) c.1058T>C (p.Leu353Pro) c.*1157T>C (n.*1157T>C) c.1076T>C (p.Leu359Pro) | gnomAD v4 |
19 | g.11422740A>T | CA404120154 | ODAD3 | c.1238T>A (p.Leu413Gln) c.665T>A (p.Leu222Gln) c.1058T>A (p.Leu353Gln) c.*1157T>A (n.*1157T>A) c.1076T>A (p.Leu359Gln) | |
19 | g.11422741G>A | CA505749471 | ODAD3 | c.1237C>T (p.Leu413=) c.664C>T (p.Leu222=) c.1057C>T (p.Leu353=) c.*1156C>T (n.*1156C>T) c.1075C>T (p.Leu359=) | |
19 | g.11422741G>C | CA404120156 | ODAD3 | c.1237C>G (p.Leu413Val) c.664C>G (p.Leu222Val) c.1057C>G (p.Leu353Val) c.*1156C>G (n.*1156C>G) c.1075C>G (p.Leu359Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11422741G= | CA2322924998 | ODAD3 | c.1237C= (p.Leu413=) c.664C= (p.Leu222=) c.1057C= (p.Leu353=) c.*1156C= (n.*1156C=) c.1075C= (p.Leu359=) | |
19 | g.11422741G>T | CA404120158 | ODAD3 | c.1237C>A (p.Leu413Met) c.664C>A (p.Leu222Met) c.1057C>A (p.Leu353Met) c.*1156C>A (n.*1156C>A) c.1075C>A (p.Leu359Met) | |
19 | g.11422742C>A | CA404120159 | ODAD3 | c.1236G>T (p.Glu412Asp) c.663G>T (p.Glu221Asp) c.1056G>T (p.Glu352Asp) c.*1155G>T (n.*1155G>T) c.1074G>T (p.Glu358Asp) | |
19 | g.11422742C= | CA2322924999 | ODAD3 | c.1236G= (p.Glu412=) c.663G= (p.Glu221=) c.1056G= (p.Glu352=) c.*1155G= (n.*1155G=) c.1074G= (p.Glu358=) | |
19 | g.11422742C>G | CA404120160 | ODAD3 | c.1236G>C (p.Glu412Asp) c.663G>C (p.Glu221Asp) c.1056G>C (p.Glu352Asp) c.*1155G>C (n.*1155G>C) c.1074G>C (p.Glu358Asp) | gnomAD v4 |
19 | g.11422742C>T | CA505749472 | ODAD3 | c.1236G>A (p.Glu412=) c.663G>A (p.Glu221=) c.1056G>A (p.Glu352=) c.*1155G>A (n.*1155G>A) c.1074G>A (p.Glu358=) | dbSNP |
19 | g.11422743T>A | CA404120162 | ODAD3 | c.1235A>T (p.Glu412Val) c.662A>T (p.Glu221Val) c.1055A>T (p.Glu352Val) c.*1154A>T (n.*1154A>T) c.1073A>T (p.Glu358Val) | |
19 | g.11422743T>C | CA404120164 | ODAD3 | c.1235A>G (p.Glu412Gly) c.662A>G (p.Glu221Gly) c.1055A>G (p.Glu352Gly) c.*1154A>G (n.*1154A>G) c.1073A>G (p.Glu358Gly) | |
19 | g.11422743T>G | CA404120166 | ODAD3 | c.1235A>C (p.Glu412Ala) c.662A>C (p.Glu221Ala) c.1055A>C (p.Glu352Ala) c.*1154A>C (n.*1154A>C) c.1073A>C (p.Glu358Ala) | |
19 | g.11422744C>A | CA404120171 | ODAD3 | c.1234G>T (p.Glu412Ter) c.661G>T (p.Glu221Ter) c.1054G>T (p.Glu352Ter) c.*1153G>T (n.*1153G>T) c.1072G>T (p.Glu358Ter) | |
19 | g.11422744C>G | CA404120169 | ODAD3 | c.1234G>C (p.Glu412Gln) c.661G>C (p.Glu221Gln) c.1054G>C (p.Glu352Gln) c.*1153G>C (n.*1153G>C) c.1072G>C (p.Glu358Gln) | |
19 | g.11422744C>T | CA404120167 | ODAD3 | c.1234G>A (p.Glu412Lys) c.661G>A (p.Glu221Lys) c.1054G>A (p.Glu352Lys) c.*1153G>A (n.*1153G>A) c.1072G>A (p.Glu358Lys) | gnomAD v4 |
19 | g.11422745C>A | CA505749474 | ODAD3 | c.1233G>T (p.Arg411=) c.660G>T (p.Arg220=) c.1053G>T (p.Arg351=) c.*1152G>T (n.*1152G>T) c.1071G>T (p.Arg357=) | |
19 | g.11422745C>G | CA505749475 | ODAD3 | c.1233G>C (p.Arg411=) c.660G>C (p.Arg220=) c.1053G>C (p.Arg351=) c.*1152G>C (n.*1152G>C) c.1071G>C (p.Arg357=) | |
19 | g.11422745C>T | CA505749473 | ODAD3 | c.1233G>A (p.Arg411=) c.660G>A (p.Arg220=) c.1053G>A (p.Arg351=) c.*1152G>A (n.*1152G>A) c.1071G>A (p.Arg357=) | COSMIC |
19 | g.11422746C>A | CA404120172 | ODAD3 | c.1232G>T (p.Arg411Leu) c.659G>T (p.Arg220Leu) c.1052G>T (p.Arg351Leu) c.*1151G>T (n.*1151G>T) c.1070G>T (p.Arg357Leu) | |
19 | g.11422746C= | CA2322925000 | ODAD3 | c.1232G= (p.Arg411=) c.659G= (p.Arg220=) c.1052G= (p.Arg351=) c.*1151G= (n.*1151G=) c.1070G= (p.Arg357=) | |
19 | g.11422746C>G | CA404120173 | ODAD3 | c.1232G>C (p.Arg411Pro) c.659G>C (p.Arg220Pro) c.1052G>C (p.Arg351Pro) c.*1151G>C (n.*1151G>C) c.1070G>C (p.Arg357Pro) | |
19 | g.11422746C>T | CA404120174 | ODAD3 | c.1232G>A (p.Arg411Gln) c.659G>A (p.Arg220Gln) c.1052G>A (p.Arg351Gln) c.*1151G>A (n.*1151G>A) c.1070G>A (p.Arg357Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11422747G>A | CA404120176 | ODAD3 | c.1231C>T (p.Arg411Trp) c.658C>T (p.Arg220Trp) c.1051C>T (p.Arg351Trp) c.*1150C>T (n.*1150C>T) c.1069C>T (p.Arg357Trp) | gnomAD v4 |
19 | g.11422747G>C | CA404120177 | ODAD3 | c.1231C>G (p.Arg411Gly) c.658C>G (p.Arg220Gly) c.1051C>G (p.Arg351Gly) c.*1150C>G (n.*1150C>G) c.1069C>G (p.Arg357Gly) | |
19 | g.11422747G>T | CA505749476 | ODAD3 | c.1231C>A (p.Arg411=) c.658C>A (p.Arg220=) c.1051C>A (p.Arg351=) c.*1150C>A (n.*1150C>A) c.1069C>A (p.Arg357=) | gnomAD v4 |
19 | g.11422748C>A | CA404120179 | ODAD3 | c.1230G>T (p.Gln410His) c.657G>T (p.Gln219His) c.1050G>T (p.Gln350His) c.*1149G>T (n.*1149G>T) c.1068G>T (p.Gln356His) | |
19 | g.11422748C>G | CA404120180 | ODAD3 | c.1230G>C (p.Gln410His) c.657G>C (p.Gln219His) c.1050G>C (p.Gln350His) c.*1149G>C (n.*1149G>C) c.1068G>C (p.Gln356His) | dbSNP |
19 | g.11422748C>T | CA505749477 | ODAD3 | c.1230G>A (p.Gln410=) c.657G>A (p.Gln219=) c.1050G>A (p.Gln350=) c.*1149G>A (n.*1149G>A) c.1068G>A (p.Gln356=) | gnomAD v4 |
19 | g.11422749T>A | CA404120181 | ODAD3 | c.1229A>T (p.Gln410Leu) c.656A>T (p.Gln219Leu) c.1049A>T (p.Gln350Leu) c.*1148A>T (n.*1148A>T) c.1067A>T (p.Gln356Leu) | |
19 | g.11422749T>C | CA404120182 | ODAD3 | c.1229A>G (p.Gln410Arg) c.656A>G (p.Gln219Arg) c.1049A>G (p.Gln350Arg) c.*1148A>G (n.*1148A>G) c.1067A>G (p.Gln356Arg) | |
19 | g.11422749T>G | CA404120184 | ODAD3 | c.1229A>C (p.Gln410Pro) c.656A>C (p.Gln219Pro) c.1049A>C (p.Gln350Pro) c.*1148A>C (n.*1148A>C) c.1067A>C (p.Gln356Pro) | |
19 | g.11422750G>A | CA404120186 | ODAD3 | c.1228C>T (p.Gln410Ter) c.655C>T (p.Gln219Ter) c.1048C>T (p.Gln350Ter) c.*1147C>T (n.*1147C>T) c.1066C>T (p.Gln356Ter) | |
19 | g.11422750G>C | CA305327220 | ODAD3 | c.1228C>G (p.Gln410Glu) c.655C>G (p.Gln219Glu) c.1048C>G (p.Gln350Glu) c.*1147C>G (n.*1147C>G) c.1066C>G (p.Gln356Glu) | dbSNP |
19 | g.11422750G= | CA2322925001 | ODAD3 | c.1228C= (p.Gln410=) c.655C= (p.Gln219=) c.1048C= (p.Gln350=) c.*1147C= (n.*1147C=) c.1066C= (p.Gln356=) | |
19 | g.11422750G>T | CA404120188 | ODAD3 | c.1228C>A (p.Gln410Lys) c.655C>A (p.Gln219Lys) c.1048C>A (p.Gln350Lys) c.*1147C>A (n.*1147C>A) c.1066C>A (p.Gln356Lys) | gnomAD v4 |
19 | g.11422751C>A | CA505749478 | ODAD3 | c.1227G>T (p.Leu409=) c.654G>T (p.Leu218=) c.1047G>T (p.Leu349=) c.*1146G>T (n.*1146G>T) c.1065G>T (p.Leu355=) | |
19 | g.11422751C>G | CA505749480 | ODAD3 | c.1227G>C (p.Leu409=) c.654G>C (p.Leu218=) c.1047G>C (p.Leu349=) c.*1146G>C (n.*1146G>C) c.1065G>C (p.Leu355=) | |
19 | g.11422751C>T | CA505749479 | ODAD3 | c.1227G>A (p.Leu409=) c.654G>A (p.Leu218=) c.1047G>A (p.Leu349=) c.*1146G>A (n.*1146G>A) c.1065G>A (p.Leu355=) | |
19 | g.11422752A>C | CA404120191 | ODAD3 | c.1226T>G (p.Leu409Arg) c.653T>G (p.Leu218Arg) c.1046T>G (p.Leu349Arg) c.*1145T>G (n.*1145T>G) c.1064T>G (p.Leu355Arg) | gnomAD v4 |
19 | g.11422752A>G | CA404120193 | ODAD3 | c.1226T>C (p.Leu409Pro) c.653T>C (p.Leu218Pro) c.1046T>C (p.Leu349Pro) c.*1145T>C (n.*1145T>C) c.1064T>C (p.Leu355Pro) | |
19 | g.11422752A>T | CA404120190 | ODAD3 | c.1226T>A (p.Leu409Gln) c.653T>A (p.Leu218Gln) c.1046T>A (p.Leu349Gln) c.*1145T>A (n.*1145T>A) c.1064T>A (p.Leu355Gln) | |
19 | g.11422753G>A | CA9212081 | ODAD3 | c.1225C>T (p.Leu409=) c.652C>T (p.Leu218=) c.1045C>T (p.Leu349=) c.*1144C>T (n.*1144C>T) c.1063C>T (p.Leu355=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422753G>C | CA404120197 | ODAD3 | c.1225C>G (p.Leu409Val) c.652C>G (p.Leu218Val) c.1045C>G (p.Leu349Val) c.*1144C>G (n.*1144C>G) c.1063C>G (p.Leu355Val) | |
19 | g.11422753G= | CA2322925002 | ODAD3 | c.1225C= (p.Leu409=) c.652C= (p.Leu218=) c.1045C= (p.Leu349=) c.*1144C= (n.*1144C=) c.1063C= (p.Leu355=) | |
19 | g.11422753G>T | CA404120195 | ODAD3 | c.1225C>A (p.Leu409Met) c.652C>A (p.Leu218Met) c.1045C>A (p.Leu349Met) c.*1144C>A (n.*1144C>A) c.1063C>A (p.Leu355Met) | |
19 | g.11422754T>A | CA404120199 | ODAD3 | c.1224A>T (p.Gln408His) c.651A>T (p.Gln217His) c.1044A>T (p.Gln348His) c.*1143A>T (n.*1143A>T) c.1062A>T (p.Gln354His) | |
19 | g.11422754T>C | CA505749481 | ODAD3 | c.1224A>G (p.Gln408=) c.651A>G (p.Gln217=) c.1044A>G (p.Gln348=) c.*1143A>G (n.*1143A>G) c.1062A>G (p.Gln354=) | |
19 | g.11422754T>G | CA404120200 | ODAD3 | c.1224A>C (p.Gln408His) c.651A>C (p.Gln217His) c.1044A>C (p.Gln348His) c.*1143A>C (n.*1143A>C) c.1062A>C (p.Gln354His) | |
19 | g.11422755T>A | CA404120201 | ODAD3 | c.1223A>T (p.Gln408Leu) c.650A>T (p.Gln217Leu) c.1043A>T (p.Gln348Leu) c.*1142A>T (n.*1142A>T) c.1061A>T (p.Gln354Leu) | |
19 | g.11422755T>C | CA404120202 | ODAD3 | c.1223A>G (p.Gln408Arg) c.650A>G (p.Gln217Arg) c.1043A>G (p.Gln348Arg) c.*1142A>G (n.*1142A>G) c.1061A>G (p.Gln354Arg) | |
19 | g.11422755T>G | CA404120203 | ODAD3 | c.1223A>C (p.Gln408Pro) c.650A>C (p.Gln217Pro) c.1043A>C (p.Gln348Pro) c.*1142A>C (n.*1142A>C) c.1061A>C (p.Gln354Pro) | |
19 | g.11422756G>A | CA404120205 | ODAD3 | c.1222C>T (p.Gln408Ter) c.649C>T (p.Gln217Ter) c.1042C>T (p.Gln348Ter) c.*1141C>T (n.*1141C>T) c.1060C>T (p.Gln354Ter) | gnomAD v4 |
19 | g.11422756G>C | CA404120207 | ODAD3 | c.1222C>G (p.Gln408Glu) c.649C>G (p.Gln217Glu) c.1042C>G (p.Gln348Glu) c.*1141C>G (n.*1141C>G) c.1060C>G (p.Gln354Glu) | gnomAD v4 |
19 | g.11422756G>T | CA404120208 | ODAD3 | c.1222C>A (p.Gln408Lys) c.649C>A (p.Gln217Lys) c.1042C>A (p.Gln348Lys) c.*1141C>A (n.*1141C>A) c.1060C>A (p.Gln354Lys) | |
19 | g.11422757T>A | CA404120210 | ODAD3 | c.1221A>T (p.Gln407His) c.648A>T (p.Gln216His) c.1041A>T (p.Gln347His) c.*1140A>T (n.*1140A>T) c.1059A>T (p.Gln353His) | |
19 | g.11422757T>C | CA505749482 | ODAD3 | c.1221A>G (p.Gln407=) c.648A>G (p.Gln216=) c.1041A>G (p.Gln347=) c.*1140A>G (n.*1140A>G) c.1059A>G (p.Gln353=) | gnomAD v4 |
19 | g.11422757T>G | CA404120211 | ODAD3 | c.1221A>C (p.Gln407His) c.648A>C (p.Gln216His) c.1041A>C (p.Gln347His) c.*1140A>C (n.*1140A>C) c.1059A>C (p.Gln353His) | |
19 | g.11422758T>A | CA404120216 | ODAD3 | c.1220A>T (p.Gln407Leu) c.647A>T (p.Gln216Leu) c.1040A>T (p.Gln347Leu) c.*1139A>T (n.*1139A>T) c.1058A>T (p.Gln353Leu) | |
19 | g.11422758T>C | CA404120214 | ODAD3 | c.1220A>G (p.Gln407Arg) c.647A>G (p.Gln216Arg) c.1040A>G (p.Gln347Arg) c.*1139A>G (n.*1139A>G) c.1058A>G (p.Gln353Arg) | |
19 | g.11422758T>G | CA404120212 | ODAD3 | c.1220A>C (p.Gln407Pro) c.647A>C (p.Gln216Pro) c.1040A>C (p.Gln347Pro) c.*1139A>C (n.*1139A>C) c.1058A>C (p.Gln353Pro) | |
19 | g.11422759G>A | CA404120218 | ODAD3 | c.1219C>T (p.Gln407Ter) c.646C>T (p.Gln216Ter) c.1039C>T (p.Gln347Ter) c.*1138C>T (n.*1138C>T) c.1057C>T (p.Gln353Ter) | |
19 | g.11422759G>C | CA404120219 | ODAD3 | c.1219C>G (p.Gln407Glu) c.646C>G (p.Gln216Glu) c.1039C>G (p.Gln347Glu) c.*1138C>G (n.*1138C>G) c.1057C>G (p.Gln353Glu) | |
19 | g.11422759G>T | CA404120221 | ODAD3 | c.1219C>A (p.Gln407Lys) c.646C>A (p.Gln216Lys) c.1039C>A (p.Gln347Lys) c.*1138C>A (n.*1138C>A) c.1057C>A (p.Gln353Lys) | gnomAD v4 |
19 | g.11422759_11422760delinsGC | CA2322925003 | ODAD3 | c.1218_1219delinsGC (p.Lys406=) c.645_646delinsGC (p.Lys215=) c.1038_1039delinsGC (p.Lys346=) c.*1137_*1138delinsGC (n.*1137_*1138delinsGC) c.1056_1057delinsGC (p.Lys352=) | |
19 | g.11422760del | CA9212082 | ODAD3 | c.1218del (p.Lys406AsnfsTer20) c.645del (p.Lys215AsnfsTer20) c.1038del (p.Lys346AsnfsTer20) c.*1137del (n.*1137del) c.1056del (p.Lys352AsnfsTer20) | dbSNP ExAC gnomAD v2 |
19 | g.11422760C>A | CA404120223 | ODAD3 | c.1218G>T (p.Lys406Asn) c.645G>T (p.Lys215Asn) c.1038G>T (p.Lys346Asn) c.*1137G>T (n.*1137G>T) c.1056G>T (p.Lys352Asn) | |
19 | g.11422760C>G | CA404120224 | ODAD3 | c.1218G>C (p.Lys406Asn) c.645G>C (p.Lys215Asn) c.1038G>C (p.Lys346Asn) c.*1137G>C (n.*1137G>C) c.1056G>C (p.Lys352Asn) | |
19 | g.11422760C>T | CA505749483 | ODAD3 | c.1218G>A (p.Lys406=) c.645G>A (p.Lys215=) c.1038G>A (p.Lys346=) c.*1137G>A (n.*1137G>A) c.1056G>A (p.Lys352=) | |
19 | g.11422761T>A | CA404120227 | ODAD3 | c.1217A>T (p.Lys406Met) c.644A>T (p.Lys215Met) c.1037A>T (p.Lys346Met) c.*1136A>T (n.*1136A>T) c.1055A>T (p.Lys352Met) | |
19 | g.11422761T>C | CA404120229 | ODAD3 | c.1217A>G (p.Lys406Arg) c.644A>G (p.Lys215Arg) c.1037A>G (p.Lys346Arg) c.*1136A>G (n.*1136A>G) c.1055A>G (p.Lys352Arg) | gnomAD v4 |
19 | g.11422761T>G | CA404120230 | ODAD3 | c.1217A>C (p.Lys406Thr) c.644A>C (p.Lys215Thr) c.1037A>C (p.Lys346Thr) c.*1136A>C (n.*1136A>C) c.1055A>C (p.Lys352Thr) | |
19 | g.11422762T>A | CA404120232 | ODAD3 | c.1216A>T (p.Lys406Ter) c.643A>T (p.Lys215Ter) c.1036A>T (p.Lys346Ter) c.*1135A>T (n.*1135A>T) c.1054A>T (p.Lys352Ter) | |
19 | g.11422762T>C | CA404120233 | ODAD3 | c.1216A>G (p.Lys406Glu) c.643A>G (p.Lys215Glu) c.1036A>G (p.Lys346Glu) c.*1135A>G (n.*1135A>G) c.1054A>G (p.Lys352Glu) | |
19 | g.11422762T>G | CA404120235 | ODAD3 | c.1216A>C (p.Lys406Gln) c.643A>C (p.Lys215Gln) c.1036A>C (p.Lys346Gln) c.*1135A>C (n.*1135A>C) c.1054A>C (p.Lys352Gln) | |
19 | g.11422762_11422765delinsTCTC | CA2322925004 | ODAD3 | c.1213_1216delinsGAGA (p.Glu405=) c.640_643delinsGAGA (p.Glu214=) c.1033_1036delinsGAGA (p.Glu345=) c.*1132_*1135delinsGAGA (n.*1132_*1135delinsGAGA) c.1051_1054delinsGAGA (p.Glu351=) | |
19 | g.11422763C>A | CA404120237 | ODAD3 | c.1215G>T (p.Glu405Asp) c.642G>T (p.Glu214Asp) c.1035G>T (p.Glu345Asp) c.*1134G>T (n.*1134G>T) c.1053G>T (p.Glu351Asp) | dbSNP gnomAD v4 |
19 | g.11422763C= | CA2322925005 | ODAD3 | c.1215G= (p.Glu405=) c.642G= (p.Glu214=) c.1035G= (p.Glu345=) c.*1134G= (n.*1134G=) c.1053G= (p.Glu351=) | |
19 | g.11422763C>G | CA404120238 | ODAD3 | c.1215G>C (p.Glu405Asp) c.642G>C (p.Glu214Asp) c.1035G>C (p.Glu345Asp) c.*1134G>C (n.*1134G>C) c.1053G>C (p.Glu351Asp) | |
19 | g.11422763C>T | CA505749484 | ODAD3 | c.1215G>A (p.Glu405=) c.642G>A (p.Glu214=) c.1035G>A (p.Glu345=) c.*1134G>A (n.*1134G>A) c.1053G>A (p.Glu351=) | gnomAD v4 |
19 | g.11422765_11422767del | CA9212083 | ODAD3 | c.1213_1215del (p.Glu405del) c.640_642del (p.Glu214del) c.1033_1035del (p.Glu345del) c.*1132_*1134del (n.*1132_*1134del) c.1051_1053del (p.Glu351del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11422764T>A | CA404120240 | ODAD3 | c.1214A>T (p.Glu405Val) c.641A>T (p.Glu214Val) c.1034A>T (p.Glu345Val) c.*1133A>T (n.*1133A>T) c.1052A>T (p.Glu351Val) | |
19 | g.11422764T>C | CA404120242 | ODAD3 | c.1214A>G (p.Glu405Gly) c.641A>G (p.Glu214Gly) c.1034A>G (p.Glu345Gly) c.*1133A>G (n.*1133A>G) c.1052A>G (p.Glu351Gly) | dbSNP |
19 | g.11422764T>G | CA404120244 | ODAD3 | c.1214A>C (p.Glu405Ala) c.641A>C (p.Glu214Ala) c.1034A>C (p.Glu345Ala) c.*1133A>C (n.*1133A>C) c.1052A>C (p.Glu351Ala) | |
19 | g.11422764T= | CA2322925006 | ODAD3 | c.1214A= (p.Glu405=) c.641A= (p.Glu214=) c.1034A= (p.Glu345=) c.*1133A= (n.*1133A=) c.1052A= (p.Glu351=) | |
19 | g.11422765C>A | CA404120246 | ODAD3 | c.1213G>T (p.Glu405Ter) c.640G>T (p.Glu214Ter) c.1033G>T (p.Glu345Ter) c.*1132G>T (n.*1132G>T) c.1051G>T (p.Glu351Ter) | |
19 | g.11422765C= | CA2322925007 | ODAD3 | c.1213G= (p.Glu405=) c.640G= (p.Glu214=) c.1033G= (p.Glu345=) c.*1132G= (n.*1132G=) c.1051G= (p.Glu351=) | |
19 | g.11422765C>G | CA404120247 | ODAD3 | c.1213G>C (p.Glu405Gln) c.640G>C (p.Glu214Gln) c.1033G>C (p.Glu345Gln) c.*1132G>C (n.*1132G>C) c.1051G>C (p.Glu351Gln) | |
19 | g.11422765C>T | CA9212084 | ODAD3 | c.1213G>A (p.Glu405Lys) c.640G>A (p.Glu214Lys) c.1033G>A (p.Glu345Lys) c.*1132G>A (n.*1132G>A) c.1051G>A (p.Glu351Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11422766C>A | CA404120248 | ODAD3 | c.1212G>T (p.Gln404His) c.639G>T (p.Gln213His) c.1032G>T (p.Gln344His) c.*1131G>T (n.*1131G>T) c.1050G>T (p.Gln350His) | gnomAD v4 |
19 | g.11422766C>G | CA404120249 | ODAD3 | c.1212G>C (p.Gln404His) c.639G>C (p.Gln213His) c.1032G>C (p.Gln344His) c.*1131G>C (n.*1131G>C) c.1050G>C (p.Gln350His) | |
19 | g.11422766C>T | CA505749485 | ODAD3 | c.1212G>A (p.Gln404=) c.639G>A (p.Gln213=) c.1032G>A (p.Gln344=) c.*1131G>A (n.*1131G>A) c.1050G>A (p.Gln350=) | |
19 | g.11422767T>A | CA404120251 | ODAD3 | c.1211A>T (p.Gln404Leu) c.638A>T (p.Gln213Leu) c.1031A>T (p.Gln344Leu) c.*1130A>T (n.*1130A>T) c.1049A>T (p.Gln350Leu) | |
19 | g.11422767T>C | CA404120253 | ODAD3 | c.1211A>G (p.Gln404Arg) c.638A>G (p.Gln213Arg) c.1031A>G (p.Gln344Arg) c.*1130A>G (n.*1130A>G) c.1049A>G (p.Gln350Arg) | |
19 | g.11422767T>G | CA404120254 | ODAD3 | c.1211A>C (p.Gln404Pro) c.638A>C (p.Gln213Pro) c.1031A>C (p.Gln344Pro) c.*1130A>C (n.*1130A>C) c.1049A>C (p.Gln350Pro) | |
19 | g.11422768G>A | CA404120255 | ODAD3 | c.1210C>T (p.Gln404Ter) c.637C>T (p.Gln213Ter) c.1030C>T (p.Gln344Ter) c.*1129C>T (n.*1129C>T) c.1048C>T (p.Gln350Ter) | gnomAD v4 |
19 | g.11422768G>C | CA404120257 | ODAD3 | c.1210C>G (p.Gln404Glu) c.637C>G (p.Gln213Glu) c.1030C>G (p.Gln344Glu) c.*1129C>G (n.*1129C>G) c.1048C>G (p.Gln350Glu) | |
19 | g.11422768G>T | CA404120259 | ODAD3 | c.1210C>A (p.Gln404Lys) c.637C>A (p.Gln213Lys) c.1030C>A (p.Gln344Lys) c.*1129C>A (n.*1129C>A) c.1048C>A (p.Gln350Lys) | |
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 |