Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.7663734G>A | CA338125979 | CAMTA1 | c.1187G>A (p.Ser396Asn) c.*1038G>A (n.*1038G>A) c.1097G>A (p.Ser366Asn) c.1115G>A (p.Ser372Asn) c.*956G>A (n.*956G>A) c.1175G>A (p.Ser392Asn) | ClinVar dbSNP |
1 | g.7663734G>C | CA338125981 | CAMTA1 | c.1187G>C (p.Ser396Thr) c.*1038G>C (n.*1038G>C) c.1097G>C (p.Ser366Thr) c.1115G>C (p.Ser372Thr) c.*956G>C (n.*956G>C) c.1175G>C (p.Ser392Thr) | |
1 | g.7663734G= | CA1152023716 | CAMTA1 | c.1187G= (p.Ser396=) c.*1038G= (n.*1038G=) c.1097G= (p.Ser366=) c.1115G= (p.Ser372=) c.*956G= (n.*956G=) c.1175G= (p.Ser392=) | |
1 | g.7663734G>T | CA338125987 | CAMTA1 | c.1187G>T (p.Ser396Ile) c.*1038G>T (n.*1038G>T) c.1097G>T (p.Ser366Ile) c.1115G>T (p.Ser372Ile) c.*956G>T (n.*956G>T) c.1175G>T (p.Ser392Ile) | |
1 | g.7663735C>A | CA338125991 | CAMTA1 | c.1188C>A (p.Ser396Arg) c.*1039C>A (n.*1039C>A) c.1098C>A (p.Ser366Arg) c.1116C>A (p.Ser372Arg) c.*957C>A (n.*957C>A) c.1176C>A (p.Ser392Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663735C= | CA1152023717 | CAMTA1 | c.1188C= (p.Ser396=) c.*1039C= (n.*1039C=) c.1098C= (p.Ser366=) c.1116C= (p.Ser372=) c.*957C= (n.*957C=) c.1176C= (p.Ser392=) | |
1 | g.7663735C>G | CA338126003 | CAMTA1 | c.1188C>G (p.Ser396Arg) c.*1039C>G (n.*1039C>G) c.1098C>G (p.Ser366Arg) c.1116C>G (p.Ser372Arg) c.*957C>G (n.*957C>G) c.1176C>G (p.Ser392Arg) | |
1 | g.7663735C>T | CA566391 | CAMTA1 | c.1188C>T (p.Ser396=) c.*1039C>T (n.*1039C>T) c.1098C>T (p.Ser366=) c.1116C>T (p.Ser372=) c.*957C>T (n.*957C>T) c.1176C>T (p.Ser392=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663736G>A | CA566392 | CAMTA1 | c.1189G>A (p.Ala397Thr) c.*1040G>A (n.*1040G>A) c.1099G>A (p.Ala367Thr) c.1117G>A (p.Ala373Thr) c.*958G>A (n.*958G>A) c.1177G>A (p.Ala393Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663736G>C | CA338126012 | CAMTA1 | c.1189G>C (p.Ala397Pro) c.*1040G>C (n.*1040G>C) c.1099G>C (p.Ala367Pro) c.1117G>C (p.Ala373Pro) c.*958G>C (n.*958G>C) c.1177G>C (p.Ala393Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663736G= | CA1141954749 | CAMTA1 | c.1189G= (p.Ala397=) c.*1040G= (n.*1040G=) c.1099G= (p.Ala367=) c.1117G= (p.Ala373=) c.*958G= (n.*958G=) c.1177G= (p.Ala393=) | |
1 | g.7663736G>T | CA338126016 | CAMTA1 | c.1189G>T (p.Ala397Ser) c.*1040G>T (n.*1040G>T) c.1099G>T (p.Ala367Ser) c.1117G>T (p.Ala373Ser) c.*958G>T (n.*958G>T) c.1177G>T (p.Ala393Ser) | |
1 | g.7663737C>A | CA338126028 | CAMTA1 | c.1190C>A (p.Ala397Asp) c.*1041C>A (n.*1041C>A) c.1100C>A (p.Ala367Asp) c.1118C>A (p.Ala373Asp) c.*959C>A (n.*959C>A) c.1178C>A (p.Ala393Asp) | |
1 | g.7663737C>G | CA338126024 | CAMTA1 | c.1190C>G (p.Ala397Gly) c.*1041C>G (n.*1041C>G) c.1100C>G (p.Ala367Gly) c.1118C>G (p.Ala373Gly) c.*959C>G (n.*959C>G) c.1178C>G (p.Ala393Gly) | |
1 | g.7663737C>T | CA338126019 | CAMTA1 | c.1190C>T (p.Ala397Val) c.*1041C>T (n.*1041C>T) c.1100C>T (p.Ala367Val) c.1118C>T (p.Ala373Val) c.*959C>T (n.*959C>T) c.1178C>T (p.Ala393Val) | |
1 | g.7663738C>A | CA416026620 | CAMTA1 | c.1191C>A (p.Ala397=) c.*1042C>A (n.*1042C>A) c.1101C>A (p.Ala367=) c.1119C>A (p.Ala373=) c.*960C>A (n.*960C>A) c.1179C>A (p.Ala393=) | |
1 | g.7663738C>G | CA416026621 | CAMTA1 | c.1191C>G (p.Ala397=) c.*1042C>G (n.*1042C>G) c.1101C>G (p.Ala367=) c.1119C>G (p.Ala373=) c.*960C>G (n.*960C>G) c.1179C>G (p.Ala393=) | |
1 | g.7663738C>T | CA416026622 | CAMTA1 | c.1191C>T (p.Ala397=) c.*1042C>T (n.*1042C>T) c.1101C>T (p.Ala367=) c.1119C>T (p.Ala373=) c.*960C>T (n.*960C>T) c.1179C>T (p.Ala393=) | |
1 | g.7663739A>C | CA338126032 | CAMTA1 | c.1192A>C (p.Thr398Pro) c.*1043A>C (n.*1043A>C) c.1102A>C (p.Thr368Pro) c.1120A>C (p.Thr374Pro) c.*961A>C (n.*961A>C) c.1180A>C (p.Thr394Pro) | |
1 | g.7663739A>G | CA338126049 | CAMTA1 | c.1192A>G (p.Thr398Ala) c.*1043A>G (n.*1043A>G) c.1102A>G (p.Thr368Ala) c.1120A>G (p.Thr374Ala) c.*961A>G (n.*961A>G) c.1180A>G (p.Thr394Ala) | |
1 | g.7663739A>T | CA338126057 | CAMTA1 | c.1192A>T (p.Thr398Ser) c.*1043A>T (n.*1043A>T) c.1102A>T (p.Thr368Ser) c.1120A>T (p.Thr374Ser) c.*961A>T (n.*961A>T) c.1180A>T (p.Thr394Ser) | |
1 | g.7663740C>A | CA338126060 | CAMTA1 | c.1193C>A (p.Thr398Lys) c.*1044C>A (n.*1044C>A) c.1103C>A (p.Thr368Lys) c.1121C>A (p.Thr374Lys) c.*962C>A (n.*962C>A) c.1181C>A (p.Thr394Lys) | |
1 | g.7663740C= | CA1152023718 | CAMTA1 | c.1193C= (p.Thr398=) c.*1044C= (n.*1044C=) c.1103C= (p.Thr368=) c.1121C= (p.Thr374=) c.*962C= (n.*962C=) c.1181C= (p.Thr394=) | |
1 | g.7663740C>G | CA338126062 | CAMTA1 | c.1193C>G (p.Thr398Arg) c.*1044C>G (n.*1044C>G) c.1103C>G (p.Thr368Arg) c.1121C>G (p.Thr374Arg) c.*962C>G (n.*962C>G) c.1181C>G (p.Thr394Arg) | |
1 | g.7663740C>T | CA566393 | CAMTA1 | c.1193C>T (p.Thr398Met) c.*1044C>T (n.*1044C>T) c.1103C>T (p.Thr368Met) c.1121C>T (p.Thr374Met) c.*962C>T (n.*962C>T) c.1181C>T (p.Thr394Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663741G>A | CA566394 | CAMTA1 | c.1194G>A (p.Thr398=) c.*1045G>A (n.*1045G>A) c.1104G>A (p.Thr368=) c.1122G>A (p.Thr374=) c.*963G>A (n.*963G>A) c.1182G>A (p.Thr394=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663741G>C | CA416026625 | CAMTA1 | c.1194G>C (p.Thr398=) c.*1045G>C (n.*1045G>C) c.1104G>C (p.Thr368=) c.1122G>C (p.Thr374=) c.*963G>C (n.*963G>C) c.1182G>C (p.Thr394=) | |
1 | g.7663741G= | CA1152023719 | CAMTA1 | c.1194G= (p.Thr398=) c.*1045G= (n.*1045G=) c.1104G= (p.Thr368=) c.1122G= (p.Thr374=) c.*963G= (n.*963G=) c.1182G= (p.Thr394=) | |
1 | g.7663741G>T | CA416026626 | CAMTA1 | c.1194G>T (p.Thr398=) c.*1045G>T (n.*1045G>T) c.1104G>T (p.Thr368=) c.1122G>T (p.Thr374=) c.*963G>T (n.*963G>T) c.1182G>T (p.Thr394=) | |
1 | g.7663742G>A | CA338126066 | CAMTA1 | c.1195G>A (p.Val399Met) c.*1046G>A (n.*1046G>A) c.1105G>A (p.Val369Met) c.1123G>A (p.Val375Met) c.*964G>A (n.*964G>A) c.1183G>A (p.Val395Met) | |
1 | g.7663742G>C | CA566395 | CAMTA1 | c.1195G>C (p.Val399Leu) c.*1046G>C (n.*1046G>C) c.1105G>C (p.Val369Leu) c.1123G>C (p.Val375Leu) c.*964G>C (n.*964G>C) c.1183G>C (p.Val395Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663742G= | CA1152023720 | CAMTA1 | c.1195G= (p.Val399=) c.*1046G= (n.*1046G=) c.1105G= (p.Val369=) c.1123G= (p.Val375=) c.*964G= (n.*964G=) c.1183G= (p.Val395=) | |
1 | g.7663742G>T | CA338126068 | CAMTA1 | c.1195G>T (p.Val399Leu) c.*1046G>T (n.*1046G>T) c.1105G>T (p.Val369Leu) c.1123G>T (p.Val375Leu) c.*964G>T (n.*964G>T) c.1183G>T (p.Val395Leu) | gnomAD v4 |
1 | g.7663743T>A | CA338126075 | CAMTA1 | c.1196T>A (p.Val399Glu) c.*1047T>A (n.*1047T>A) c.1106T>A (p.Val369Glu) c.1124T>A (p.Val375Glu) c.*965T>A (n.*965T>A) c.1184T>A (p.Val395Glu) | |
1 | g.7663743T>C | CA338126077 | CAMTA1 | c.1196T>C (p.Val399Ala) c.*1047T>C (n.*1047T>C) c.1106T>C (p.Val369Ala) c.1124T>C (p.Val375Ala) c.*965T>C (n.*965T>C) c.1184T>C (p.Val395Ala) | |
1 | g.7663743T>G | CA338126080 | CAMTA1 | c.1196T>G (p.Val399Gly) c.*1047T>G (n.*1047T>G) c.1106T>G (p.Val369Gly) c.1124T>G (p.Val375Gly) c.*965T>G (n.*965T>G) c.1184T>G (p.Val395Gly) | dbSNP |
1 | g.7663743T= | CA1152023721 | CAMTA1 | c.1196T= (p.Val399=) c.*1047T= (n.*1047T=) c.1106T= (p.Val369=) c.1124T= (p.Val375=) c.*965T= (n.*965T=) c.1184T= (p.Val395=) | |
1 | g.7663744G>A | CA566396 | CAMTA1 | c.1197G>A (p.Val399=) c.*1048G>A (n.*1048G>A) c.1107G>A (p.Val369=) c.1125G>A (p.Val375=) c.*966G>A (n.*966G>A) c.1185G>A (p.Val395=) | dbSNP ExAC |
1 | g.7663744G>C | CA416026628 | CAMTA1 | c.1197G>C (p.Val399=) c.*1048G>C (n.*1048G>C) c.1107G>C (p.Val369=) c.1125G>C (p.Val375=) c.*966G>C (n.*966G>C) c.1185G>C (p.Val395=) | |
1 | g.7663744G= | CA1152023722 | CAMTA1 | c.1197G= (p.Val399=) c.*1048G= (n.*1048G=) c.1107G= (p.Val369=) c.1125G= (p.Val375=) c.*966G= (n.*966G=) c.1185G= (p.Val395=) | |
1 | g.7663744G>T | CA416026629 | CAMTA1 | c.1197G>T (p.Val399=) c.*1048G>T (n.*1048G>T) c.1107G>T (p.Val369=) c.1125G>T (p.Val375=) c.*966G>T (n.*966G>T) c.1185G>T (p.Val395=) | |
1 | g.7663745T>A | CA338126097 | CAMTA1 | c.1198T>A (p.Phe400Ile) c.*1049T>A (n.*1049T>A) c.1108T>A (p.Phe370Ile) c.1126T>A (p.Phe376Ile) c.*967T>A (n.*967T>A) c.1186T>A (p.Phe396Ile) | |
1 | g.7663745T>C | CA338126109 | CAMTA1 | c.1198T>C (p.Phe400Leu) c.*1049T>C (n.*1049T>C) c.1108T>C (p.Phe370Leu) c.1126T>C (p.Phe376Leu) c.*967T>C (n.*967T>C) c.1186T>C (p.Phe396Leu) | |
1 | g.7663745T>G | CA338126100 | CAMTA1 | c.1198T>G (p.Phe400Val) c.*1049T>G (n.*1049T>G) c.1108T>G (p.Phe370Val) c.1126T>G (p.Phe376Val) c.*967T>G (n.*967T>G) c.1186T>G (p.Phe396Val) | |
1 | g.7663746T>A | CA338126113 | CAMTA1 | c.1199T>A (p.Phe400Tyr) c.*1050T>A (n.*1050T>A) c.1109T>A (p.Phe370Tyr) c.1127T>A (p.Phe376Tyr) c.*968T>A (n.*968T>A) c.1187T>A (p.Phe396Tyr) | |
1 | g.7663746T>C | CA338126115 | CAMTA1 | c.1199T>C (p.Phe400Ser) c.*1050T>C (n.*1050T>C) c.1109T>C (p.Phe370Ser) c.1127T>C (p.Phe376Ser) c.*968T>C (n.*968T>C) c.1187T>C (p.Phe396Ser) | |
1 | g.7663746T>G | CA338126117 | CAMTA1 | c.1199T>G (p.Phe400Cys) c.*1050T>G (n.*1050T>G) c.1109T>G (p.Phe370Cys) c.1127T>G (p.Phe376Cys) c.*968T>G (n.*968T>G) c.1187T>G (p.Phe396Cys) | |
1 | g.7663747C>A | CA338126120 | CAMTA1 | c.1200C>A (p.Phe400Leu) c.*1051C>A (n.*1051C>A) c.1110C>A (p.Phe370Leu) c.1128C>A (p.Phe376Leu) c.*969C>A (n.*969C>A) c.1188C>A (p.Phe396Leu) | |
1 | g.7663747C>G | CA338126127 | CAMTA1 | c.1200C>G (p.Phe400Leu) c.*1051C>G (n.*1051C>G) c.1110C>G (p.Phe370Leu) c.1128C>G (p.Phe376Leu) c.*969C>G (n.*969C>G) c.1188C>G (p.Phe396Leu) | |
1 | g.7663747C>T | CA416026631 | CAMTA1 | c.1200C>T (p.Phe400=) c.*1051C>T (n.*1051C>T) c.1110C>T (p.Phe370=) c.1128C>T (p.Phe376=) c.*969C>T (n.*969C>T) c.1188C>T (p.Phe396=) | |
1 | g.7663748A= | CA1152023723 | CAMTA1 | c.1201A= (p.Met401=) c.*1052A= (n.*1052A=) c.1111A= (p.Met371=) c.1129A= (p.Met377=) c.*970A= (n.*970A=) c.1189A= (p.Met397=) | |
1 | g.7663748A>C | CA338126134 | CAMTA1 | c.1201A>C (p.Met401Leu) c.*1052A>C (n.*1052A>C) c.1111A>C (p.Met371Leu) c.1129A>C (p.Met377Leu) c.*970A>C (n.*970A>C) c.1189A>C (p.Met397Leu) | |
1 | g.7663748A>G | CA338126136 | CAMTA1 | c.1201A>G (p.Met401Val) c.*1052A>G (n.*1052A>G) c.1111A>G (p.Met371Val) c.1129A>G (p.Met377Val) c.*970A>G (n.*970A>G) c.1189A>G (p.Met397Val) | dbSNP gnomAD v4 |
1 | g.7663748A>T | CA338126138 | CAMTA1 | c.1201A>T (p.Met401Leu) c.*1052A>T (n.*1052A>T) c.1111A>T (p.Met371Leu) c.1129A>T (p.Met377Leu) c.*970A>T (n.*970A>T) c.1189A>T (p.Met397Leu) | |
1 | g.7663749T>A | CA338126140 | CAMTA1 | c.1202T>A (p.Met401Lys) c.*1053T>A (n.*1053T>A) c.1112T>A (p.Met371Lys) c.1130T>A (p.Met377Lys) c.*971T>A (n.*971T>A) c.1190T>A (p.Met397Lys) | |
1 | g.7663749T>C | CA338126143 | CAMTA1 | c.1202T>C (p.Met401Thr) c.*1053T>C (n.*1053T>C) c.1112T>C (p.Met371Thr) c.1130T>C (p.Met377Thr) c.*971T>C (n.*971T>C) c.1190T>C (p.Met397Thr) | gnomAD v4 |
1 | g.7663749T>G | CA338126148 | CAMTA1 | c.1202T>G (p.Met401Arg) c.*1053T>G (n.*1053T>G) c.1112T>G (p.Met371Arg) c.1130T>G (p.Met377Arg) c.*971T>G (n.*971T>G) c.1190T>G (p.Met397Arg) | |
1 | g.7663750G>A | CA566397 | CAMTA1 | c.1203G>A (p.Met401Ile) c.*1054G>A (n.*1054G>A) c.1113G>A (p.Met371Ile) c.1131G>A (p.Met377Ile) c.*972G>A (n.*972G>A) c.1191G>A (p.Met397Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663750G>C | CA338126152 | CAMTA1 | c.1203G>C (p.Met401Ile) c.*1054G>C (n.*1054G>C) c.1113G>C (p.Met371Ile) c.1131G>C (p.Met377Ile) c.*972G>C (n.*972G>C) c.1191G>C (p.Met397Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663750G= | CA1152023724 | CAMTA1 | c.1203G= (p.Met401=) c.*1054G= (n.*1054G=) c.1113G= (p.Met371=) c.1131G= (p.Met377=) c.*972G= (n.*972G=) c.1191G= (p.Met397=) | |
1 | g.7663750G>T | CA338126150 | CAMTA1 | c.1203G>T (p.Met401Ile) c.*1054G>T (n.*1054G>T) c.1113G>T (p.Met371Ile) c.1131G>T (p.Met377Ile) c.*972G>T (n.*972G>T) c.1191G>T (p.Met397Ile) | |
1 | g.7663751T>A | CA338126159 | CAMTA1 | c.1204T>A (p.Ser402Thr) c.*1055T>A (n.*1055T>A) c.1114T>A (p.Ser372Thr) c.1132T>A (p.Ser378Thr) c.*973T>A (n.*973T>A) c.1192T>A (p.Ser398Thr) | |
1 | g.7663751T>C | CA338126156 | CAMTA1 | c.1204T>C (p.Ser402Pro) c.*1055T>C (n.*1055T>C) c.1114T>C (p.Ser372Pro) c.1132T>C (p.Ser378Pro) c.*973T>C (n.*973T>C) c.1192T>C (p.Ser398Pro) | |
1 | g.7663751T>G | CA338126161 | CAMTA1 | c.1204T>G (p.Ser402Ala) c.*1055T>G (n.*1055T>G) c.1114T>G (p.Ser372Ala) c.1132T>G (p.Ser378Ala) c.*973T>G (n.*973T>G) c.1192T>G (p.Ser398Ala) | |
1 | g.7663752C>A | CA338126163 | CAMTA1 | c.1205C>A (p.Ser402Ter) c.*1056C>A (n.*1056C>A) c.1115C>A (p.Ser372Ter) c.1133C>A (p.Ser378Ter) c.*974C>A (n.*974C>A) c.1193C>A (p.Ser398Ter) | |
1 | g.7663752C>G | CA338126164 | CAMTA1 | c.1205C>G (p.Ser402Ter) c.*1056C>G (n.*1056C>G) c.1115C>G (p.Ser372Ter) c.1133C>G (p.Ser378Ter) c.*974C>G (n.*974C>G) c.1193C>G (p.Ser398Ter) | |
1 | g.7663752C>T | CA338126166 | CAMTA1 | c.1205C>T (p.Ser402Leu) c.*1056C>T (n.*1056C>T) c.1115C>T (p.Ser372Leu) c.1133C>T (p.Ser378Leu) c.*974C>T (n.*974C>T) c.1193C>T (p.Ser398Leu) | |
1 | g.7663753A>C | CA416026637 | CAMTA1 | c.1206A>C (p.Ser402=) c.*1057A>C (n.*1057A>C) c.1116A>C (p.Ser372=) c.1134A>C (p.Ser378=) c.*975A>C (n.*975A>C) c.1194A>C (p.Ser398=) | |
1 | g.7663753A>G | CA416026638 | CAMTA1 | c.1206A>G (p.Ser402=) c.*1057A>G (n.*1057A>G) c.1116A>G (p.Ser372=) c.1134A>G (p.Ser378=) c.*975A>G (n.*975A>G) c.1194A>G (p.Ser398=) | |
1 | g.7663753A>T | CA416026639 | CAMTA1 | c.1206A>T (p.Ser402=) c.*1057A>T (n.*1057A>T) c.1116A>T (p.Ser372=) c.1134A>T (p.Ser378=) c.*975A>T (n.*975A>T) c.1194A>T (p.Ser398=) | |
1 | g.7663754G>A | CA338126167 | CAMTA1 | c.1207G>A (p.Glu403Lys) c.*1058G>A (n.*1058G>A) c.1117G>A (p.Glu373Lys) c.1135G>A (p.Glu379Lys) c.*976G>A (n.*976G>A) c.1195G>A (p.Glu399Lys) | |
1 | g.7663754G>C | CA338126168 | CAMTA1 | c.1207G>C (p.Glu403Gln) c.*1058G>C (n.*1058G>C) c.1117G>C (p.Glu373Gln) c.1135G>C (p.Glu379Gln) c.*976G>C (n.*976G>C) c.1195G>C (p.Glu399Gln) | ClinVar dbSNP |
1 | g.7663754G= | CA1152023725 | CAMTA1 | c.1207G= (p.Glu403=) c.*1058G= (n.*1058G=) c.1117G= (p.Glu373=) c.1135G= (p.Glu379=) c.*976G= (n.*976G=) c.1195G= (p.Glu399=) | |
1 | g.7663754G>T | CA338126169 | CAMTA1 | c.1207G>T (p.Glu403Ter) c.*1058G>T (n.*1058G>T) c.1117G>T (p.Glu373Ter) c.1135G>T (p.Glu379Ter) c.*976G>T (n.*976G>T) c.1195G>T (p.Glu399Ter) | |
1 | g.7663755A>C | CA338126176 | CAMTA1 | c.1208A>C (p.Glu403Ala) c.*1059A>C (n.*1059A>C) c.1118A>C (p.Glu373Ala) c.1136A>C (p.Glu379Ala) c.*977A>C (n.*977A>C) c.1196A>C (p.Glu399Ala) | |
1 | g.7663755A>G | CA338126172 | CAMTA1 | c.1208A>G (p.Glu403Gly) c.*1059A>G (n.*1059A>G) c.1118A>G (p.Glu373Gly) c.1136A>G (p.Glu379Gly) c.*977A>G (n.*977A>G) c.1196A>G (p.Glu399Gly) | |
1 | g.7663755A>T | CA338126173 | CAMTA1 | c.1208A>T (p.Glu403Val) c.*1059A>T (n.*1059A>T) c.1118A>T (p.Glu373Val) c.1136A>T (p.Glu379Val) c.*977A>T (n.*977A>T) c.1196A>T (p.Glu399Val) | |
1 | g.7663756G>A | CA416026641 | CAMTA1 | c.1209G>A (p.Glu403=) c.*1060G>A (n.*1060G>A) c.1119G>A (p.Glu373=) c.1137G>A (p.Glu379=) c.*978G>A (n.*978G>A) c.1197G>A (p.Glu399=) | |
1 | g.7663756G>C | CA338126177 | CAMTA1 | c.1209G>C (p.Glu403Asp) c.*1060G>C (n.*1060G>C) c.1119G>C (p.Glu373Asp) c.1137G>C (p.Glu379Asp) c.*978G>C (n.*978G>C) c.1197G>C (p.Glu399Asp) | |
1 | g.7663756G>T | CA338126178 | CAMTA1 | c.1209G>T (p.Glu403Asp) c.*1060G>T (n.*1060G>T) c.1119G>T (p.Glu373Asp) c.1137G>T (p.Glu379Asp) c.*978G>T (n.*978G>T) c.1197G>T (p.Glu399Asp) | |
1 | g.7663757G>A | CA338126179 | CAMTA1 | c.1210G>A (p.Val404Ile) c.*1061G>A (n.*1061G>A) c.1120G>A (p.Val374Ile) c.1138G>A (p.Val380Ile) c.*979G>A (n.*979G>A) c.1198G>A (p.Val400Ile) | dbSNP gnomAD v4 |
1 | g.7663757G>C | CA338126180 | CAMTA1 | c.1210G>C (p.Val404Leu) c.*1061G>C (n.*1061G>C) c.1120G>C (p.Val374Leu) c.1138G>C (p.Val380Leu) c.*979G>C (n.*979G>C) c.1198G>C (p.Val400Leu) | |
1 | g.7663757G= | CA1152023726 | CAMTA1 | c.1210G= (p.Val404=) c.*1061G= (n.*1061G=) c.1120G= (p.Val374=) c.1138G= (p.Val380=) c.*979G= (n.*979G=) c.1198G= (p.Val400=) | |
1 | g.7663757G>T | CA338126181 | CAMTA1 | c.1210G>T (p.Val404Phe) c.*1061G>T (n.*1061G>T) c.1120G>T (p.Val374Phe) c.1138G>T (p.Val380Phe) c.*979G>T (n.*979G>T) c.1198G>T (p.Val400Phe) | |
1 | g.7663758T>A | CA338126183 | CAMTA1 | c.1211T>A (p.Val404Asp) c.*1062T>A (n.*1062T>A) c.1121T>A (p.Val374Asp) c.1139T>A (p.Val380Asp) c.*980T>A (n.*980T>A) c.1199T>A (p.Val400Asp) | |
1 | g.7663758T>C | CA338126186 | CAMTA1 | c.1211T>C (p.Val404Ala) c.*1062T>C (n.*1062T>C) c.1121T>C (p.Val374Ala) c.1139T>C (p.Val380Ala) c.*980T>C (n.*980T>C) c.1199T>C (p.Val400Ala) | |
1 | g.7663758T>G | CA338126184 | CAMTA1 | c.1211T>G (p.Val404Gly) c.*1062T>G (n.*1062T>G) c.1121T>G (p.Val374Gly) c.1139T>G (p.Val380Gly) c.*980T>G (n.*980T>G) c.1199T>G (p.Val400Gly) | dbSNP |
1 | g.7663758T= | CA1152023727 | CAMTA1 | c.1211T= (p.Val404=) c.*1062T= (n.*1062T=) c.1121T= (p.Val374=) c.1139T= (p.Val380=) c.*980T= (n.*980T=) c.1199T= (p.Val400=) | |
1 | g.7663759C>A | CA416026647 | CAMTA1 | c.1212C>A (p.Val404=) c.*1063C>A (n.*1063C>A) c.1122C>A (p.Val374=) c.1140C>A (p.Val380=) c.*981C>A (n.*981C>A) c.1200C>A (p.Val400=) | |
1 | g.7663759C>G | CA416026649 | CAMTA1 | c.1212C>G (p.Val404=) c.*1063C>G (n.*1063C>G) c.1122C>G (p.Val374=) c.1140C>G (p.Val380=) c.*981C>G (n.*981C>G) c.1200C>G (p.Val400=) | |
1 | g.7663759C>T | CA416026648 | CAMTA1 | c.1212C>T (p.Val404=) c.*1063C>T (n.*1063C>T) c.1122C>T (p.Val374=) c.1140C>T (p.Val380=) c.*981C>T (n.*981C>T) c.1200C>T (p.Val400=) | |
1 | g.7663760A>C | CA338126190 | CAMTA1 | c.1213A>C (p.Thr405Pro) c.*1064A>C (n.*1064A>C) c.1123A>C (p.Thr375Pro) c.1141A>C (p.Thr381Pro) c.*982A>C (n.*982A>C) c.1201A>C (p.Thr401Pro) | |
1 | g.7663760A>G | CA338126192 | CAMTA1 | c.1213A>G (p.Thr405Ala) c.*1064A>G (n.*1064A>G) c.1123A>G (p.Thr375Ala) c.1141A>G (p.Thr381Ala) c.*982A>G (n.*982A>G) c.1201A>G (p.Thr401Ala) | |
1 | g.7663760A>T | CA338126197 | CAMTA1 | c.1213A>T (p.Thr405Ser) c.*1064A>T (n.*1064A>T) c.1123A>T (p.Thr375Ser) c.1141A>T (p.Thr381Ser) c.*982A>T (n.*982A>T) c.1201A>T (p.Thr401Ser) | |
1 | g.7663761C>A | CA338126199 | CAMTA1 | c.1214C>A (p.Thr405Asn) c.*1065C>A (n.*1065C>A) c.1124C>A (p.Thr375Asn) c.1142C>A (p.Thr381Asn) c.*983C>A (n.*983C>A) c.1202C>A (p.Thr401Asn) | dbSNP |
1 | g.7663761C= | CA1152023728 | CAMTA1 | c.1214C= (p.Thr405=) c.*1065C= (n.*1065C=) c.1124C= (p.Thr375=) c.1142C= (p.Thr381=) c.*983C= (n.*983C=) c.1202C= (p.Thr401=) | |
1 | g.7663761C>G | CA338126200 | CAMTA1 | c.1214C>G (p.Thr405Ser) c.*1065C>G (n.*1065C>G) c.1124C>G (p.Thr375Ser) c.1142C>G (p.Thr381Ser) c.*983C>G (n.*983C>G) c.1202C>G (p.Thr401Ser) | |
1 | g.7663761C>T | CA338126203 | CAMTA1 | c.1214C>T (p.Thr405Ile) c.*1065C>T (n.*1065C>T) c.1124C>T (p.Thr375Ile) c.1142C>T (p.Thr381Ile) c.*983C>T (n.*983C>T) c.1202C>T (p.Thr401Ile) | |
1 | g.7663762C>A | CA416026650 | CAMTA1 | c.1215C>A (p.Thr405=) c.*1066C>A (n.*1066C>A) c.1125C>A (p.Thr375=) c.1143C>A (p.Thr381=) c.*984C>A (n.*984C>A) c.1203C>A (p.Thr401=) | |
1 | g.7663762C= | CA1152023729 | CAMTA1 | c.1215C= (p.Thr405=) c.*1066C= (n.*1066C=) c.1125C= (p.Thr375=) c.1143C= (p.Thr381=) c.*984C= (n.*984C=) c.1203C= (p.Thr401=) | |
1 | g.7663762C>G | CA416026652 | CAMTA1 | c.1215C>G (p.Thr405=) c.*1066C>G (n.*1066C>G) c.1125C>G (p.Thr375=) c.1143C>G (p.Thr381=) c.*984C>G (n.*984C>G) c.1203C>G (p.Thr401=) | |
1 | g.7663762C>T | CA566398 | CAMTA1 | c.1215C>T (p.Thr405=) c.*1066C>T (n.*1066C>T) c.1125C>T (p.Thr375=) c.1143C>T (p.Thr381=) c.*984C>T (n.*984C>T) c.1203C>T (p.Thr401=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663763A>C | CA338126204 | CAMTA1 | c.1216A>C (p.Asn406His) c.*1067A>C (n.*1067A>C) c.1126A>C (p.Asn376His) c.1144A>C (p.Asn382His) c.*985A>C (n.*985A>C) c.1204A>C (p.Asn402His) | |
1 | g.7663763A>G | CA338126205 | CAMTA1 | c.1216A>G (p.Asn406Asp) c.*1067A>G (n.*1067A>G) c.1126A>G (p.Asn376Asp) c.1144A>G (p.Asn382Asp) c.*985A>G (n.*985A>G) c.1204A>G (p.Asn402Asp) | |
1 | g.7663763A>T | CA338126207 | CAMTA1 | c.1216A>T (p.Asn406Tyr) c.*1067A>T (n.*1067A>T) c.1126A>T (p.Asn376Tyr) c.1144A>T (p.Asn382Tyr) c.*985A>T (n.*985A>T) c.1204A>T (p.Asn402Tyr) | |
1 | g.7663764A= | CA1152023730 | CAMTA1 | c.1217A= (p.Asn406=) c.*1068A= (n.*1068A=) c.1127A= (p.Asn376=) c.1145A= (p.Asn382=) c.*986A= (n.*986A=) c.1205A= (p.Asn402=) | |
1 | g.7663764A>C | CA338126214 | CAMTA1 | c.1217A>C (p.Asn406Thr) c.*1068A>C (n.*1068A>C) c.1127A>C (p.Asn376Thr) c.1145A>C (p.Asn382Thr) c.*986A>C (n.*986A>C) c.1205A>C (p.Asn402Thr) | |
1 | g.7663764A>G | CA566399 | CAMTA1 | c.1217A>G (p.Asn406Ser) c.*1068A>G (n.*1068A>G) c.1127A>G (p.Asn376Ser) c.1145A>G (p.Asn382Ser) c.*986A>G (n.*986A>G) c.1205A>G (p.Asn402Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663764A>T | CA338126211 | CAMTA1 | c.1217A>T (p.Asn406Ile) c.*1068A>T (n.*1068A>T) c.1127A>T (p.Asn376Ile) c.1145A>T (p.Asn382Ile) c.*986A>T (n.*986A>T) c.1205A>T (p.Asn402Ile) | |
1 | g.7663765T>A | CA566400 | CAMTA1 | c.1218T>A (p.Asn406Lys) c.*1069T>A (n.*1069T>A) c.1128T>A (p.Asn376Lys) c.1146T>A (p.Asn382Lys) c.*987T>A (n.*987T>A) c.1206T>A (p.Asn402Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663765T>C | CA566401 | CAMTA1 | c.1218T>C (p.Asn406=) c.*1069T>C (n.*1069T>C) c.1128T>C (p.Asn376=) c.1146T>C (p.Asn382=) c.*987T>C (n.*987T>C) c.1206T>C (p.Asn402=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663765T>G | CA338126222 | CAMTA1 | c.1218T>G (p.Asn406Lys) c.*1069T>G (n.*1069T>G) c.1128T>G (p.Asn376Lys) c.1146T>G (p.Asn382Lys) c.*987T>G (n.*987T>G) c.1206T>G (p.Asn402Lys) | |
1 | g.7663765T= | CA1152023731 | CAMTA1 | c.1218T= (p.Asn406=) c.*1069T= (n.*1069T=) c.1128T= (p.Asn376=) c.1146T= (p.Asn382=) c.*987T= (n.*987T=) c.1206T= (p.Asn402=) | |
1 | g.7663766G>A | CA566402 | CAMTA1 | c.1219G>A (p.Glu407Lys) c.*1070G>A (n.*1070G>A) c.1129G>A (p.Glu377Lys) c.1147G>A (p.Glu383Lys) c.*988G>A (n.*988G>A) c.1207G>A (p.Glu403Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663766G>C | CA338126227 | CAMTA1 | c.1219G>C (p.Glu407Gln) c.*1070G>C (n.*1070G>C) c.1129G>C (p.Glu377Gln) c.1147G>C (p.Glu383Gln) c.*988G>C (n.*988G>C) c.1207G>C (p.Glu403Gln) | |
1 | g.7663766G= | CA1152023732 | CAMTA1 | c.1219G= (p.Glu407=) c.*1070G= (n.*1070G=) c.1129G= (p.Glu377=) c.1147G= (p.Glu383=) c.*988G= (n.*988G=) c.1207G= (p.Glu403=) | |
1 | g.7663766G>T | CA338126232 | CAMTA1 | c.1219G>T (p.Glu407Ter) c.*1070G>T (n.*1070G>T) c.1129G>T (p.Glu377Ter) c.1147G>T (p.Glu383Ter) c.*988G>T (n.*988G>T) c.1207G>T (p.Glu403Ter) | |
1 | g.7663767A>C | CA338126242 | CAMTA1 | c.1220A>C (p.Glu407Ala) c.*1071A>C (n.*1071A>C) c.1130A>C (p.Glu377Ala) c.1148A>C (p.Glu383Ala) c.*989A>C (n.*989A>C) c.1208A>C (p.Glu403Ala) | |
1 | g.7663767A>G | CA338126234 | CAMTA1 | c.1220A>G (p.Glu407Gly) c.*1071A>G (n.*1071A>G) c.1130A>G (p.Glu377Gly) c.1148A>G (p.Glu383Gly) c.*989A>G (n.*989A>G) c.1208A>G (p.Glu403Gly) | |
1 | g.7663767A>T | CA338126236 | CAMTA1 | c.1220A>T (p.Glu407Val) c.*1071A>T (n.*1071A>T) c.1130A>T (p.Glu377Val) c.1148A>T (p.Glu383Val) c.*989A>T (n.*989A>T) c.1208A>T (p.Glu403Val) | |
1 | g.7663768G>A | CA416026658 | CAMTA1 | c.1221G>A (p.Glu407=) c.*1072G>A (n.*1072G>A) c.1131G>A (p.Glu377=) c.1149G>A (p.Glu383=) c.*990G>A (n.*990G>A) c.1209G>A (p.Glu403=) | |
1 | g.7663768G>C | CA338126245 | CAMTA1 | c.1221G>C (p.Glu407Asp) c.*1072G>C (n.*1072G>C) c.1131G>C (p.Glu377Asp) c.1149G>C (p.Glu383Asp) c.*990G>C (n.*990G>C) c.1209G>C (p.Glu403Asp) | |
1 | g.7663768G>T | CA338126246 | CAMTA1 | c.1221G>T (p.Glu407Asp) c.*1072G>T (n.*1072G>T) c.1131G>T (p.Glu377Asp) c.1149G>T (p.Glu383Asp) c.*990G>T (n.*990G>T) c.1209G>T (p.Glu403Asp) | |
1 | g.7663769G>A | CA338126248 | CAMTA1 | c.1222G>A (p.Ala408Thr) c.*1073G>A (n.*1073G>A) c.1132G>A (p.Ala378Thr) c.1150G>A (p.Ala384Thr) c.*991G>A (n.*991G>A) c.1210G>A (p.Ala404Thr) | |
1 | g.7663769G>C | CA338126249 | CAMTA1 | c.1222G>C (p.Ala408Pro) c.*1073G>C (n.*1073G>C) c.1132G>C (p.Ala378Pro) c.1150G>C (p.Ala384Pro) c.*991G>C (n.*991G>C) c.1210G>C (p.Ala404Pro) | |
1 | g.7663769G>T | CA338126260 | CAMTA1 | c.1222G>T (p.Ala408Ser) c.*1073G>T (n.*1073G>T) c.1132G>T (p.Ala378Ser) c.1150G>T (p.Ala384Ser) c.*991G>T (n.*991G>T) c.1210G>T (p.Ala404Ser) | |
1 | g.7663769_7663770delinsGC | CA1152023733 | CAMTA1 | c.1222_1223delinsGC (p.Ala408=) c.*1073_*1074delinsGC (n.*1073_*1074delinsGC) c.1132_1133delinsGC (p.Ala378=) c.1150_1151delinsGC (p.Ala384=) c.*991_*992delinsGC (n.*991_*992delinsGC) c.1210_1211delinsGC (p.Ala404=) | |
1 | g.7663770C>A | CA338126264 | CAMTA1 | c.1223C>A (p.Ala408Asp) c.*1074C>A (n.*1074C>A) c.1133C>A (p.Ala378Asp) c.1151C>A (p.Ala384Asp) c.*992C>A (n.*992C>A) c.1211C>A (p.Ala404Asp) | |
1 | g.7663770C>G | CA338126269 | CAMTA1 | c.1223C>G (p.Ala408Gly) c.*1074C>G (n.*1074C>G) c.1133C>G (p.Ala378Gly) c.1151C>G (p.Ala384Gly) c.*992C>G (n.*992C>G) c.1211C>G (p.Ala404Gly) | gnomAD v4 |
1 | g.7663770C>T | CA338126266 | CAMTA1 | c.1223C>T (p.Ala408Val) c.*1074C>T (n.*1074C>T) c.1133C>T (p.Ala378Val) c.1151C>T (p.Ala384Val) c.*992C>T (n.*992C>T) c.1211C>T (p.Ala404Val) | |
1 | g.7663771del | CA1152023734 | CAMTA1 | c.1224del (p.Val409CysfsTer27) c.*1075del (n.*1075del) c.1134del (p.Val379CysfsTer27) c.1152del (p.Val385CysfsTer27) c.*993del (n.*993del) c.1212del (p.Val405CysfsTer27) | dbSNP |
1 | g.7663771C>A | CA416026663 | CAMTA1 | c.1224C>A (p.Ala408=) c.*1075C>A (n.*1075C>A) c.1134C>A (p.Ala378=) c.1152C>A (p.Ala384=) c.*993C>A (n.*993C>A) c.1212C>A (p.Ala404=) | |
1 | g.7663771C= | CA1143995182 | CAMTA1 | c.1224C= (p.Ala408=) c.*1075C= (n.*1075C=) c.1134C= (p.Ala378=) c.1152C= (p.Ala384=) c.*993C= (n.*993C=) c.1212C= (p.Ala404=) | |
1 | g.7663771C>G | CA416026664 | CAMTA1 | c.1224C>G (p.Ala408=) c.*1075C>G (n.*1075C>G) c.1134C>G (p.Ala378=) c.1152C>G (p.Ala384=) c.*993C>G (n.*993C>G) c.1212C>G (p.Ala404=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663771C>T | CA566403 | CAMTA1 | c.1224C>T (p.Ala408=) c.*1075C>T (n.*1075C>T) c.1134C>T (p.Ala378=) c.1152C>T (p.Ala384=) c.*993C>T (n.*993C>T) c.1212C>T (p.Ala404=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663772G>A | CA566404 | CAMTA1 | c.1225G>A (p.Val409Met) c.*1076G>A (n.*1076G>A) c.1135G>A (p.Val379Met) c.1153G>A (p.Val385Met) c.*994G>A (n.*994G>A) c.1213G>A (p.Val405Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663772G>C | CA338126276 | CAMTA1 | c.1225G>C (p.Val409Leu) c.*1076G>C (n.*1076G>C) c.1135G>C (p.Val379Leu) c.1153G>C (p.Val385Leu) c.*994G>C (n.*994G>C) c.1213G>C (p.Val405Leu) | |
1 | g.7663772G= | CA1152023735 | CAMTA1 | c.1225G= (p.Val409=) c.*1076G= (n.*1076G=) c.1135G= (p.Val379=) c.1153G= (p.Val385=) c.*994G= (n.*994G=) c.1213G= (p.Val405=) | |
1 | g.7663772G>T | CA338126278 | CAMTA1 | c.1225G>T (p.Val409Leu) c.*1076G>T (n.*1076G>T) c.1135G>T (p.Val379Leu) c.1153G>T (p.Val385Leu) c.*994G>T (n.*994G>T) c.1213G>T (p.Val405Leu) | dbSNP |
1 | g.7663773T>A | CA338126279 | CAMTA1 | c.1226T>A (p.Val409Glu) c.*1077T>A (n.*1077T>A) c.1136T>A (p.Val379Glu) c.1154T>A (p.Val385Glu) c.*995T>A (n.*995T>A) c.1214T>A (p.Val405Glu) | |
1 | g.7663773T>C | CA338126280 | CAMTA1 | c.1226T>C (p.Val409Ala) c.*1077T>C (n.*1077T>C) c.1136T>C (p.Val379Ala) c.1154T>C (p.Val385Ala) c.*995T>C (n.*995T>C) c.1214T>C (p.Val405Ala) | gnomAD v4 |
1 | g.7663773T>G | CA338126281 | CAMTA1 | c.1226T>G (p.Val409Gly) c.*1077T>G (n.*1077T>G) c.1136T>G (p.Val379Gly) c.1154T>G (p.Val385Gly) c.*995T>G (n.*995T>G) c.1214T>G (p.Val405Gly) | |
1 | g.7663774G>A | CA416026667 | CAMTA1 | c.1227G>A (p.Val409=) c.*1078G>A (n.*1078G>A) c.1137G>A (p.Val379=) c.1155G>A (p.Val385=) c.*996G>A (n.*996G>A) c.1215G>A (p.Val405=) | dbSNP gnomAD v4 |
1 | g.7663774G>C | CA416026668 | CAMTA1 | c.1227G>C (p.Val409=) c.*1078G>C (n.*1078G>C) c.1137G>C (p.Val379=) c.1155G>C (p.Val385=) c.*996G>C (n.*996G>C) c.1215G>C (p.Val405=) | |
1 | g.7663774G= | CA1152023736 | CAMTA1 | c.1227G= (p.Val409=) c.*1078G= (n.*1078G=) c.1137G= (p.Val379=) c.1155G= (p.Val385=) c.*996G= (n.*996G=) c.1215G= (p.Val405=) | |
1 | g.7663774G>T | CA416026669 | CAMTA1 | c.1227G>T (p.Val409=) c.*1078G>T (n.*1078G>T) c.1137G>T (p.Val379=) c.1155G>T (p.Val385=) c.*996G>T (n.*996G>T) c.1215G>T (p.Val405=) | |
1 | g.7663775T>A | CA338126282 | CAMTA1 | c.1228T>A (p.Tyr410Asn) c.*1079T>A (n.*1079T>A) c.1138T>A (p.Tyr380Asn) c.1156T>A (p.Tyr386Asn) c.*997T>A (n.*997T>A) c.1216T>A (p.Tyr406Asn) | |
1 | g.7663775T>C | CA566405 | CAMTA1 | c.1228T>C (p.Tyr410His) c.*1079T>C (n.*1079T>C) c.1138T>C (p.Tyr380His) c.1156T>C (p.Tyr386His) c.*997T>C (n.*997T>C) c.1216T>C (p.Tyr406His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663775T>G | CA338126285 | CAMTA1 | c.1228T>G (p.Tyr410Asp) c.*1079T>G (n.*1079T>G) c.1138T>G (p.Tyr380Asp) c.1156T>G (p.Tyr386Asp) c.*997T>G (n.*997T>G) c.1216T>G (p.Tyr406Asp) | |
1 | g.7663775T= | CA1152023737 | CAMTA1 | c.1228T= (p.Tyr410=) c.*1079T= (n.*1079T=) c.1138T= (p.Tyr380=) c.1156T= (p.Tyr386=) c.*997T= (n.*997T=) c.1216T= (p.Tyr406=) | |
1 | g.7663776A>C | CA338126290 | CAMTA1 | c.1229A>C (p.Tyr410Ser) c.*1080A>C (n.*1080A>C) c.1139A>C (p.Tyr380Ser) c.1157A>C (p.Tyr386Ser) c.*998A>C (n.*998A>C) c.1217A>C (p.Tyr406Ser) | |
1 | g.7663776A>G | CA338126289 | CAMTA1 | c.1229A>G (p.Tyr410Cys) c.*1080A>G (n.*1080A>G) c.1139A>G (p.Tyr380Cys) c.1157A>G (p.Tyr386Cys) c.*998A>G (n.*998A>G) c.1217A>G (p.Tyr406Cys) | |
1 | g.7663776A>T | CA338126287 | CAMTA1 | c.1229A>T (p.Tyr410Phe) c.*1080A>T (n.*1080A>T) c.1139A>T (p.Tyr380Phe) c.1157A>T (p.Tyr386Phe) c.*998A>T (n.*998A>T) c.1217A>T (p.Tyr406Phe) | |
1 | g.7663777C>A | CA338126293 | CAMTA1 | c.1230C>A (p.Tyr410Ter) c.*1081C>A (n.*1081C>A) c.1140C>A (p.Tyr380Ter) c.1158C>A (p.Tyr386Ter) c.*999C>A (n.*999C>A) c.1218C>A (p.Tyr406Ter) | |
1 | g.7663777C= | CA1145513129 | CAMTA1 | c.1230C= (p.Tyr410=) c.*1081C= (n.*1081C=) c.1140C= (p.Tyr380=) c.1158C= (p.Tyr386=) c.*999C= (n.*999C=) c.1218C= (p.Tyr406=) | |
1 | g.7663777C>G | CA338126296 | CAMTA1 | c.1230C>G (p.Tyr410Ter) c.*1081C>G (n.*1081C>G) c.1140C>G (p.Tyr380Ter) c.1158C>G (p.Tyr386Ter) c.*999C>G (n.*999C>G) c.1218C>G (p.Tyr406Ter) | |
1 | g.7663777C>T | CA566406 | CAMTA1 | c.1230C>T (p.Tyr410=) c.*1081C>T (n.*1081C>T) c.1140C>T (p.Tyr380=) c.1158C>T (p.Tyr386=) c.*999C>T (n.*999C>T) c.1218C>T (p.Tyr406=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663778A>C | CA338126298 | CAMTA1 | c.1231A>C (p.Thr411Pro) c.*1082A>C (n.*1082A>C) c.1141A>C (p.Thr381Pro) c.1159A>C (p.Thr387Pro) c.*1000A>C (n.*1000A>C) c.1219A>C (p.Thr407Pro) | |
1 | g.7663778A>G | CA338126300 | CAMTA1 | c.1231A>G (p.Thr411Ala) c.*1082A>G (n.*1082A>G) c.1141A>G (p.Thr381Ala) c.1159A>G (p.Thr387Ala) c.*1000A>G (n.*1000A>G) c.1219A>G (p.Thr407Ala) | |
1 | g.7663778A>T | CA338126303 | CAMTA1 | c.1231A>T (p.Thr411Ser) c.*1082A>T (n.*1082A>T) c.1141A>T (p.Thr381Ser) c.1159A>T (p.Thr387Ser) c.*1000A>T (n.*1000A>T) c.1219A>T (p.Thr407Ser) | |
1 | g.7663779C>A | CA338126304 | CAMTA1 | c.1232C>A (p.Thr411Asn) c.*1083C>A (n.*1083C>A) c.1142C>A (p.Thr381Asn) c.1160C>A (p.Thr387Asn) c.*1001C>A (n.*1001C>A) c.1220C>A (p.Thr407Asn) | |
1 | g.7663779C>G | CA338126306 | CAMTA1 | c.1232C>G (p.Thr411Ser) c.*1083C>G (n.*1083C>G) c.1142C>G (p.Thr381Ser) c.1160C>G (p.Thr387Ser) c.*1001C>G (n.*1001C>G) c.1220C>G (p.Thr407Ser) | |
1 | g.7663779C>T | CA338126309 | CAMTA1 | c.1232C>T (p.Thr411Ile) c.*1083C>T (n.*1083C>T) c.1142C>T (p.Thr381Ile) c.1160C>T (p.Thr387Ile) c.*1001C>T (n.*1001C>T) c.1220C>T (p.Thr407Ile) | |
1 | g.7663780C>A | CA416026677 | CAMTA1 | c.1233C>A (p.Thr411=) c.*1084C>A (n.*1084C>A) c.1143C>A (p.Thr381=) c.1161C>A (p.Thr387=) c.*1002C>A (n.*1002C>A) c.1221C>A (p.Thr407=) | |
1 | g.7663780C>G | CA416026678 | CAMTA1 | c.1233C>G (p.Thr411=) c.*1084C>G (n.*1084C>G) c.1143C>G (p.Thr381=) c.1161C>G (p.Thr387=) c.*1002C>G (n.*1002C>G) c.1221C>G (p.Thr407=) | |
1 | g.7663780C>T | CA416026680 | CAMTA1 | c.1233C>T (p.Thr411=) c.*1084C>T (n.*1084C>T) c.1143C>T (p.Thr381=) c.1161C>T (p.Thr387=) c.*1002C>T (n.*1002C>T) c.1221C>T (p.Thr407=) | |
1 | g.7663781A>C | CA338126311 | CAMTA1 | c.1234A>C (p.Met412Leu) c.*1085A>C (n.*1085A>C) c.1144A>C (p.Met382Leu) c.1162A>C (p.Met388Leu) c.*1003A>C (n.*1003A>C) c.1222A>C (p.Met408Leu) | |
1 | g.7663781A>G | CA338126313 | CAMTA1 | c.1234A>G (p.Met412Val) c.*1085A>G (n.*1085A>G) c.1144A>G (p.Met382Val) c.1162A>G (p.Met388Val) c.*1003A>G (n.*1003A>G) c.1222A>G (p.Met408Val) | gnomAD v4 |
1 | g.7663781A>T | CA338126314 | CAMTA1 | c.1234A>T (p.Met412Leu) c.*1085A>T (n.*1085A>T) c.1144A>T (p.Met382Leu) c.1162A>T (p.Met388Leu) c.*1003A>T (n.*1003A>T) c.1222A>T (p.Met408Leu) | |
1 | g.7663782T>A | CA566407 | CAMTA1 | c.1235T>A (p.Met412Lys) c.*1086T>A (n.*1086T>A) c.1145T>A (p.Met382Lys) c.1163T>A (p.Met388Lys) c.*1004T>A (n.*1004T>A) c.1223T>A (p.Met408Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663782T>C | CA338126325 | CAMTA1 | c.1235T>C (p.Met412Thr) c.*1086T>C (n.*1086T>C) c.1145T>C (p.Met382Thr) c.1163T>C (p.Met388Thr) c.*1004T>C (n.*1004T>C) c.1223T>C (p.Met408Thr) | gnomAD v4 |
1 | g.7663782T>G | CA338126326 | CAMTA1 | c.1235T>G (p.Met412Arg) c.*1086T>G (n.*1086T>G) c.1145T>G (p.Met382Arg) c.1163T>G (p.Met388Arg) c.*1004T>G (n.*1004T>G) c.1223T>G (p.Met408Arg) | |
1 | g.7663782T= | CA1152023738 | CAMTA1 | c.1235T= (p.Met412=) c.*1086T= (n.*1086T=) c.1145T= (p.Met382=) c.1163T= (p.Met388=) c.*1004T= (n.*1004T=) c.1223T= (p.Met408=) | |
1 | g.7663783G>A | CA338126333 | CAMTA1 | c.1236G>A (p.Met412Ile) c.*1087G>A (n.*1087G>A) c.1146G>A (p.Met382Ile) c.1164G>A (p.Met388Ile) c.*1005G>A (n.*1005G>A) c.1224G>A (p.Met408Ile) | |
1 | g.7663783G>C | CA338126329 | CAMTA1 | c.1236G>C (p.Met412Ile) c.*1087G>C (n.*1087G>C) c.1146G>C (p.Met382Ile) c.1164G>C (p.Met388Ile) c.*1005G>C (n.*1005G>C) c.1224G>C (p.Met408Ile) | |
1 | g.7663783G>T | CA338126332 | CAMTA1 | c.1236G>T (p.Met412Ile) c.*1087G>T (n.*1087G>T) c.1146G>T (p.Met382Ile) c.1164G>T (p.Met388Ile) c.*1005G>T (n.*1005G>T) c.1224G>T (p.Met408Ile) | |
1 | g.7663784T>A | CA338126335 | CAMTA1 | c.1237T>A (p.Ser413Thr) c.*1088T>A (n.*1088T>A) c.1147T>A (p.Ser383Thr) c.1165T>A (p.Ser389Thr) c.*1006T>A (n.*1006T>A) c.1225T>A (p.Ser409Thr) | |
1 | g.7663784T>C | CA338126338 | CAMTA1 | c.1237T>C (p.Ser413Pro) c.*1088T>C (n.*1088T>C) c.1147T>C (p.Ser383Pro) c.1165T>C (p.Ser389Pro) c.*1006T>C (n.*1006T>C) c.1225T>C (p.Ser409Pro) | dbSNP |
1 | g.7663784T>G | CA338126340 | CAMTA1 | c.1237T>G (p.Ser413Ala) c.*1088T>G (n.*1088T>G) c.1147T>G (p.Ser383Ala) c.1165T>G (p.Ser389Ala) c.*1006T>G (n.*1006T>G) c.1225T>G (p.Ser409Ala) | |
1 | g.7663784T= | CA1152023739 | CAMTA1 | c.1237T= (p.Ser413=) c.*1088T= (n.*1088T=) c.1147T= (p.Ser383=) c.1165T= (p.Ser389=) c.*1006T= (n.*1006T=) c.1225T= (p.Ser409=) | |
1 | g.7663785C>A | CA338126360 | CAMTA1 | c.1238C>A (p.Ser413Tyr) c.*1089C>A (n.*1089C>A) c.1148C>A (p.Ser383Tyr) c.1166C>A (p.Ser389Tyr) c.*1007C>A (n.*1007C>A) c.1226C>A (p.Ser409Tyr) | |
1 | g.7663785C= | CA1152023740 | CAMTA1 | c.1238C= (p.Ser413=) c.*1089C= (n.*1089C=) c.1148C= (p.Ser383=) c.1166C= (p.Ser389=) c.*1007C= (n.*1007C=) c.1226C= (p.Ser409=) | |
1 | g.7663785C>G | CA338126366 | CAMTA1 | c.1238C>G (p.Ser413Cys) c.*1089C>G (n.*1089C>G) c.1148C>G (p.Ser383Cys) c.1166C>G (p.Ser389Cys) c.*1007C>G (n.*1007C>G) c.1226C>G (p.Ser409Cys) | gnomAD v4 |
1 | g.7663785C>T | CA338126368 | CAMTA1 | c.1238C>T (p.Ser413Phe) c.*1089C>T (n.*1089C>T) c.1148C>T (p.Ser383Phe) c.1166C>T (p.Ser389Phe) c.*1007C>T (n.*1007C>T) c.1226C>T (p.Ser409Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663786C>A | CA416026688 | CAMTA1 | c.1239C>A (p.Ser413=) c.*1090C>A (n.*1090C>A) c.1149C>A (p.Ser383=) c.1167C>A (p.Ser389=) c.*1008C>A (n.*1008C>A) c.1227C>A (p.Ser409=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663786C= | CA1152023741 | CAMTA1 | c.1239C= (p.Ser413=) c.*1090C= (n.*1090C=) c.1149C= (p.Ser383=) c.1167C= (p.Ser389=) c.*1008C= (n.*1008C=) c.1227C= (p.Ser409=) | |
1 | g.7663786C>G | CA416026690 | CAMTA1 | c.1239C>G (p.Ser413=) c.*1090C>G (n.*1090C>G) c.1149C>G (p.Ser383=) c.1167C>G (p.Ser389=) c.*1008C>G (n.*1008C>G) c.1227C>G (p.Ser409=) | |
1 | g.7663786C>T | CA416026691 | CAMTA1 | c.1239C>T (p.Ser413=) c.*1090C>T (n.*1090C>T) c.1149C>T (p.Ser383=) c.1167C>T (p.Ser389=) c.*1008C>T (n.*1008C>T) c.1227C>T (p.Ser409=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663787C>A | CA338126375 | CAMTA1 | c.1240C>A (p.Pro414Thr) c.*1091C>A (n.*1091C>A) c.1150C>A (p.Pro384Thr) c.1168C>A (p.Pro390Thr) c.*1009C>A (n.*1009C>A) c.1228C>A (p.Pro410Thr) | |
1 | g.7663787C= | CA1152023742 | CAMTA1 | c.1240C= (p.Pro414=) c.*1091C= (n.*1091C=) c.1150C= (p.Pro384=) c.1168C= (p.Pro390=) c.*1009C= (n.*1009C=) c.1228C= (p.Pro410=) | |
1 | g.7663787C>G | CA338126378 | CAMTA1 | c.1240C>G (p.Pro414Ala) c.*1091C>G (n.*1091C>G) c.1150C>G (p.Pro384Ala) c.1168C>G (p.Pro390Ala) c.*1009C>G (n.*1009C>G) c.1228C>G (p.Pro410Ala) | |
1 | g.7663787C>T | CA338126380 | CAMTA1 | c.1240C>T (p.Pro414Ser) c.*1091C>T (n.*1091C>T) c.1150C>T (p.Pro384Ser) c.1168C>T (p.Pro390Ser) c.*1009C>T (n.*1009C>T) c.1228C>T (p.Pro410Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.7663788C>A | CA338126382 | CAMTA1 | c.1241C>A (p.Pro414His) c.*1092C>A (n.*1092C>A) c.1151C>A (p.Pro384His) c.1169C>A (p.Pro390His) c.*1010C>A (n.*1010C>A) c.1229C>A (p.Pro410His) | |
1 | g.7663788C>G | CA338126384 | CAMTA1 | c.1241C>G (p.Pro414Arg) c.*1092C>G (n.*1092C>G) c.1151C>G (p.Pro384Arg) c.1169C>G (p.Pro390Arg) c.*1010C>G (n.*1010C>G) c.1229C>G (p.Pro410Arg) | |
1 | g.7663788C>T | CA338126385 | CAMTA1 | c.1241C>T (p.Pro414Leu) c.*1092C>T (n.*1092C>T) c.1151C>T (p.Pro384Leu) c.1169C>T (p.Pro390Leu) c.*1010C>T (n.*1010C>T) c.1229C>T (p.Pro410Leu) | |
1 | g.7663789C>A | CA416026697 | CAMTA1 | c.1242C>A (p.Pro414=) c.*1093C>A (n.*1093C>A) c.1152C>A (p.Pro384=) c.1170C>A (p.Pro390=) c.*1011C>A (n.*1011C>A) c.1230C>A (p.Pro410=) | |
1 | g.7663789C= | CA1152023743 | CAMTA1 | c.1242C= (p.Pro414=) c.*1093C= (n.*1093C=) c.1152C= (p.Pro384=) c.1170C= (p.Pro390=) c.*1011C= (n.*1011C=) c.1230C= (p.Pro410=) | |
1 | g.7663789C>G | CA416026698 | CAMTA1 | c.1242C>G (p.Pro414=) c.*1093C>G (n.*1093C>G) c.1152C>G (p.Pro384=) c.1170C>G (p.Pro390=) c.*1011C>G (n.*1011C>G) c.1230C>G (p.Pro410=) | |
1 | g.7663789C>T | CA566408 | CAMTA1 | c.1242C>T (p.Pro414=) c.*1093C>T (n.*1093C>T) c.1152C>T (p.Pro384=) c.1170C>T (p.Pro390=) c.*1011C>T (n.*1011C>T) c.1230C>T (p.Pro410=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663790A>C | CA338126391 | CAMTA1 | c.1243A>C (p.Thr415Pro) c.*1094A>C (n.*1094A>C) c.1153A>C (p.Thr385Pro) c.1171A>C (p.Thr391Pro) c.*1012A>C (n.*1012A>C) c.1231A>C (p.Thr411Pro) | |
1 | g.7663790A>G | CA338126387 | CAMTA1 | c.1243A>G (p.Thr415Ala) c.*1094A>G (n.*1094A>G) c.1153A>G (p.Thr385Ala) c.1171A>G (p.Thr391Ala) c.*1012A>G (n.*1012A>G) c.1231A>G (p.Thr411Ala) | gnomAD v4 |
1 | g.7663790A>T | CA338126389 | CAMTA1 | c.1243A>T (p.Thr415Ser) c.*1094A>T (n.*1094A>T) c.1153A>T (p.Thr385Ser) c.1171A>T (p.Thr391Ser) c.*1012A>T (n.*1012A>T) c.1231A>T (p.Thr411Ser) | |
1 | g.7663791C>A | CA338126392 | CAMTA1 | c.1244C>A (p.Thr415Asn) c.*1095C>A (n.*1095C>A) c.1154C>A (p.Thr385Asn) c.1172C>A (p.Thr391Asn) c.*1013C>A (n.*1013C>A) c.1232C>A (p.Thr411Asn) | |
1 | g.7663791C= | CA1152023744 | CAMTA1 | c.1244C= (p.Thr415=) c.*1095C= (n.*1095C=) c.1154C= (p.Thr385=) c.1172C= (p.Thr391=) c.*1013C= (n.*1013C=) c.1232C= (p.Thr411=) | |
1 | g.7663791C>G | CA338126394 | CAMTA1 | c.1244C>G (p.Thr415Ser) c.*1095C>G (n.*1095C>G) c.1154C>G (p.Thr385Ser) c.1172C>G (p.Thr391Ser) c.*1013C>G (n.*1013C>G) c.1232C>G (p.Thr411Ser) | |
1 | g.7663791C>T | CA338126396 | CAMTA1 | c.1244C>T (p.Thr415Ile) c.*1095C>T (n.*1095C>T) c.1154C>T (p.Thr385Ile) c.1172C>T (p.Thr391Ile) c.*1013C>T (n.*1013C>T) c.1232C>T (p.Thr411Ile) | dbSNP |
1 | g.7663792C>A | CA416026699 | CAMTA1 | c.1245C>A (p.Thr415=) c.*1096C>A (n.*1096C>A) c.1155C>A (p.Thr385=) c.1173C>A (p.Thr391=) c.*1014C>A (n.*1014C>A) c.1233C>A (p.Thr411=) | |
1 | g.7663792C= | CA1141728458 | CAMTA1 | c.1245C= (p.Thr415=) c.*1096C= (n.*1096C=) c.1155C= (p.Thr385=) c.1173C= (p.Thr391=) c.*1014C= (n.*1014C=) c.1233C= (p.Thr411=) | |
1 | g.7663792C>G | CA416026701 | CAMTA1 | c.1245C>G (p.Thr415=) c.*1096C>G (n.*1096C>G) c.1155C>G (p.Thr385=) c.1173C>G (p.Thr391=) c.*1014C>G (n.*1014C>G) c.1233C>G (p.Thr411=) | |
1 | g.7663792C>T | CA566409 | CAMTA1 | c.1245C>T (p.Thr415=) c.*1096C>T (n.*1096C>T) c.1155C>T (p.Thr385=) c.1173C>T (p.Thr391=) c.*1014C>T (n.*1014C>T) c.1233C>T (p.Thr411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663793G>A | CA566410 | CAMTA1 | c.1246G>A (p.Ala416Thr) c.*1097G>A (n.*1097G>A) c.1156G>A (p.Ala386Thr) c.1174G>A (p.Ala392Thr) c.*1015G>A (n.*1015G>A) c.1234G>A (p.Ala412Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663793G>C | CA338126399 | CAMTA1 | c.1246G>C (p.Ala416Pro) c.*1097G>C (n.*1097G>C) c.1156G>C (p.Ala386Pro) c.1174G>C (p.Ala392Pro) c.*1015G>C (n.*1015G>C) c.1234G>C (p.Ala412Pro) | |
1 | g.7663793G= | CA1152023745 | CAMTA1 | c.1246G= (p.Ala416=) c.*1097G= (n.*1097G=) c.1156G= (p.Ala386=) c.1174G= (p.Ala392=) c.*1015G= (n.*1015G=) c.1234G= (p.Ala412=) | |
1 | g.7663793G>T | CA566411 | CAMTA1 | c.1246G>T (p.Ala416Ser) c.*1097G>T (n.*1097G>T) c.1156G>T (p.Ala386Ser) c.1174G>T (p.Ala392Ser) c.*1015G>T (n.*1015G>T) c.1234G>T (p.Ala412Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663794C>A | CA338126404 | CAMTA1 | c.1247C>A (p.Ala416Asp) c.*1098C>A (n.*1098C>A) c.1157C>A (p.Ala386Asp) c.1175C>A (p.Ala392Asp) c.*1016C>A (n.*1016C>A) c.1235C>A (p.Ala412Asp) | |
1 | g.7663794C= | CA1152023746 | CAMTA1 | c.1247C= (p.Ala416=) c.*1098C= (n.*1098C=) c.1157C= (p.Ala386=) c.1175C= (p.Ala392=) c.*1016C= (n.*1016C=) c.1235C= (p.Ala412=) | |
1 | g.7663794C>G | CA338126405 | CAMTA1 | c.1247C>G (p.Ala416Gly) c.*1098C>G (n.*1098C>G) c.1157C>G (p.Ala386Gly) c.1175C>G (p.Ala392Gly) c.*1016C>G (n.*1016C>G) c.1235C>G (p.Ala412Gly) | |
1 | g.7663794C>T | CA338126407 | CAMTA1 | c.1247C>T (p.Ala416Val) c.*1098C>T (n.*1098C>T) c.1157C>T (p.Ala386Val) c.1175C>T (p.Ala392Val) c.*1016C>T (n.*1016C>T) c.1235C>T (p.Ala412Val) | dbSNP gnomAD v4 |
1 | g.7663795T>A | CA416026712 | CAMTA1 | c.1248T>A (p.Ala416=) c.*1099T>A (n.*1099T>A) c.1158T>A (p.Ala386=) c.1176T>A (p.Ala392=) c.*1017T>A (n.*1017T>A) c.1236T>A (p.Ala412=) | |
1 | g.7663795T>C | CA416026714 | CAMTA1 | c.1248T>C (p.Ala416=) c.*1099T>C (n.*1099T>C) c.1158T>C (p.Ala386=) c.1176T>C (p.Ala392=) c.*1017T>C (n.*1017T>C) c.1236T>C (p.Ala412=) | gnomAD v4 |
1 | g.7663795T>G | CA566412 | CAMTA1 | c.1248T>G (p.Ala416=) c.*1099T>G (n.*1099T>G) c.1158T>G (p.Ala386=) c.1176T>G (p.Ala392=) c.*1017T>G (n.*1017T>G) c.1236T>G (p.Ala412=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663795T= | CA1152023747 | CAMTA1 | c.1248T= (p.Ala416=) c.*1099T= (n.*1099T=) c.1158T= (p.Ala386=) c.1176T= (p.Ala392=) c.*1017T= (n.*1017T=) c.1236T= (p.Ala412=) | |
1 | g.7663796G>A | CA338126413 | CAMTA1 | c.1249G>A (p.Gly417Ser) c.*1100G>A (n.*1100G>A) c.1159G>A (p.Gly387Ser) c.1177G>A (p.Gly393Ser) c.*1018G>A (n.*1018G>A) c.1237G>A (p.Gly413Ser) | |
1 | g.7663796G>C | CA338126409 | CAMTA1 | c.1249G>C (p.Gly417Arg) c.*1100G>C (n.*1100G>C) c.1159G>C (p.Gly387Arg) c.1177G>C (p.Gly393Arg) c.*1018G>C (n.*1018G>C) c.1237G>C (p.Gly413Arg) | |
1 | g.7663796G>T | CA338126411 | CAMTA1 | c.1249G>T (p.Gly417Cys) c.*1100G>T (n.*1100G>T) c.1159G>T (p.Gly387Cys) c.1177G>T (p.Gly393Cys) c.*1018G>T (n.*1018G>T) c.1237G>T (p.Gly413Cys) | |
1 | g.7663797G>A | CA338126415 | CAMTA1 | c.1250G>A (p.Gly417Asp) c.*1101G>A (n.*1101G>A) c.1160G>A (p.Gly387Asp) c.1178G>A (p.Gly393Asp) c.*1019G>A (n.*1019G>A) c.1238G>A (p.Gly413Asp) | gnomAD v4 |
1 | g.7663797G>C | CA338126417 | CAMTA1 | c.1250G>C (p.Gly417Ala) c.*1101G>C (n.*1101G>C) c.1160G>C (p.Gly387Ala) c.1178G>C (p.Gly393Ala) c.*1019G>C (n.*1019G>C) c.1238G>C (p.Gly413Ala) | |
1 | g.7663797G>T | CA338126418 | CAMTA1 | c.1250G>T (p.Gly417Val) c.*1101G>T (n.*1101G>T) c.1160G>T (p.Gly387Val) c.1178G>T (p.Gly393Val) c.*1019G>T (n.*1019G>T) c.1238G>T (p.Gly413Val) | |
1 | g.7663798C>A | CA416026722 | CAMTA1 | c.1251C>A (p.Gly417=) c.*1102C>A (n.*1102C>A) c.1161C>A (p.Gly387=) c.1179C>A (p.Gly393=) c.*1020C>A (n.*1020C>A) c.1239C>A (p.Gly413=) | |
1 | g.7663798C>G | CA416026723 | CAMTA1 | c.1251C>G (p.Gly417=) c.*1102C>G (n.*1102C>G) c.1161C>G (p.Gly387=) c.1179C>G (p.Gly393=) c.*1020C>G (n.*1020C>G) c.1239C>G (p.Gly413=) | |
1 | g.7663798C>T | CA416026726 | CAMTA1 | c.1251C>T (p.Gly417=) c.*1102C>T (n.*1102C>T) c.1161C>T (p.Gly387=) c.1179C>T (p.Gly393=) c.*1020C>T (n.*1020C>T) c.1239C>T (p.Gly413=) | |
1 | g.7663799C>A | CA338126422 | CAMTA1 | c.1252C>A (p.Pro418Thr) c.*1103C>A (n.*1103C>A) c.1162C>A (p.Pro388Thr) c.1180C>A (p.Pro394Thr) c.*1021C>A (n.*1021C>A) c.1240C>A (p.Pro414Thr) | |
1 | g.7663799C>G | CA338126424 | CAMTA1 | c.1252C>G (p.Pro418Ala) c.*1103C>G (n.*1103C>G) c.1162C>G (p.Pro388Ala) c.1180C>G (p.Pro394Ala) c.*1021C>G (n.*1021C>G) c.1240C>G (p.Pro414Ala) | |
1 | g.7663799C>T | CA338126426 | CAMTA1 | c.1252C>T (p.Pro418Ser) c.*1103C>T (n.*1103C>T) c.1162C>T (p.Pro388Ser) c.1180C>T (p.Pro394Ser) c.*1021C>T (n.*1021C>T) c.1240C>T (p.Pro414Ser) | |
1 | g.7663800C>A | CA338126429 | CAMTA1 | c.1253C>A (p.Pro418His) c.*1104C>A (n.*1104C>A) c.1163C>A (p.Pro388His) c.1181C>A (p.Pro394His) c.*1022C>A (n.*1022C>A) c.1241C>A (p.Pro414His) | |
1 | g.7663800C= | CA1152023748 | CAMTA1 | c.1253C= (p.Pro418=) c.*1104C= (n.*1104C=) c.1163C= (p.Pro388=) c.1181C= (p.Pro394=) c.*1022C= (n.*1022C=) c.1241C= (p.Pro414=) | |
1 | g.7663800C>G | CA338126431 | CAMTA1 | c.1253C>G (p.Pro418Arg) c.*1104C>G (n.*1104C>G) c.1163C>G (p.Pro388Arg) c.1181C>G (p.Pro394Arg) c.*1022C>G (n.*1022C>G) c.1241C>G (p.Pro414Arg) | |
1 | g.7663800C>T | CA338126434 | CAMTA1 | c.1253C>T (p.Pro418Leu) c.*1104C>T (n.*1104C>T) c.1163C>T (p.Pro388Leu) c.1181C>T (p.Pro394Leu) c.*1022C>T (n.*1022C>T) c.1241C>T (p.Pro414Leu) | dbSNP gnomAD v2 |
1 | g.7663801C>A | CA416026741 | CAMTA1 | c.1254C>A (p.Pro418=) c.*1105C>A (n.*1105C>A) c.1164C>A (p.Pro388=) c.1182C>A (p.Pro394=) c.*1023C>A (n.*1023C>A) c.1242C>A (p.Pro414=) | |
1 | g.7663801C>G | CA416026742 | CAMTA1 | c.1254C>G (p.Pro418=) c.*1105C>G (n.*1105C>G) c.1164C>G (p.Pro388=) c.1182C>G (p.Pro394=) c.*1023C>G (n.*1023C>G) c.1242C>G (p.Pro414=) | |
1 | g.7663801C>T | CA416026744 | CAMTA1 | c.1254C>T (p.Pro418=) c.*1105C>T (n.*1105C>T) c.1164C>T (p.Pro388=) c.1182C>T (p.Pro394=) c.*1023C>T (n.*1023C>T) c.1242C>T (p.Pro414=) | gnomAD v4 |
1 | g.7663802A>C | CA338126436 | CAMTA1 | c.1255A>C (p.Asn419His) c.*1106A>C (n.*1106A>C) c.1165A>C (p.Asn389His) c.1183A>C (p.Asn395His) c.*1024A>C (n.*1024A>C) c.1243A>C (p.Asn415His) | |
1 | g.7663802A>G | CA338126439 | CAMTA1 | c.1255A>G (p.Asn419Asp) c.*1106A>G (n.*1106A>G) c.1165A>G (p.Asn389Asp) c.1183A>G (p.Asn395Asp) c.*1024A>G (n.*1024A>G) c.1243A>G (p.Asn415Asp) | |
1 | g.7663802A>T | CA338126441 | CAMTA1 | c.1255A>T (p.Asn419Tyr) c.*1106A>T (n.*1106A>T) c.1165A>T (p.Asn389Tyr) c.1183A>T (p.Asn395Tyr) c.*1024A>T (n.*1024A>T) c.1243A>T (p.Asn415Tyr) | |
1 | g.7663803A>C | CA338126448 | CAMTA1 | c.1256A>C (p.Asn419Thr) c.*1107A>C (n.*1107A>C) c.1166A>C (p.Asn389Thr) c.1184A>C (p.Asn395Thr) c.*1025A>C (n.*1025A>C) c.1244A>C (p.Asn415Thr) | |
1 | g.7663803A>G | CA338126446 | CAMTA1 | c.1256A>G (p.Asn419Ser) c.*1107A>G (n.*1107A>G) c.1166A>G (p.Asn389Ser) c.1184A>G (p.Asn395Ser) c.*1025A>G (n.*1025A>G) c.1244A>G (p.Asn415Ser) | |
1 | g.7663803A>T | CA338126445 | CAMTA1 | c.1256A>T (p.Asn419Ile) c.*1107A>T (n.*1107A>T) c.1166A>T (p.Asn389Ile) c.1184A>T (p.Asn395Ile) c.*1025A>T (n.*1025A>T) c.1244A>T (p.Asn415Ile) | |
1 | g.7663804C>A | CA338126451 | CAMTA1 | c.1257C>A (p.Asn419Lys) c.*1108C>A (n.*1108C>A) c.1167C>A (p.Asn389Lys) c.1185C>A (p.Asn395Lys) c.*1026C>A (n.*1026C>A) c.1245C>A (p.Asn415Lys) | gnomAD v4 |
1 | g.7663804C= | CA1152023749 | CAMTA1 | c.1257C= (p.Asn419=) c.*1108C= (n.*1108C=) c.1167C= (p.Asn389=) c.1185C= (p.Asn395=) c.*1026C= (n.*1026C=) c.1245C= (p.Asn415=) | |
1 | g.7663804C>G | CA338126453 | CAMTA1 | c.1257C>G (p.Asn419Lys) c.*1108C>G (n.*1108C>G) c.1167C>G (p.Asn389Lys) c.1185C>G (p.Asn395Lys) c.*1026C>G (n.*1026C>G) c.1245C>G (p.Asn415Lys) | |
1 | g.7663804C>T | CA416026755 | CAMTA1 | c.1257C>T (p.Asn419=) c.*1108C>T (n.*1108C>T) c.1167C>T (p.Asn389=) c.1185C>T (p.Asn395=) c.*1026C>T (n.*1026C>T) c.1245C>T (p.Asn415=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663805C>A | CA338126457 | CAMTA1 | c.1258C>A (p.His420Asn) c.*1109C>A (n.*1109C>A) c.1168C>A (p.His390Asn) c.1186C>A (p.His396Asn) c.*1027C>A (n.*1027C>A) c.1246C>A (p.His416Asn) | |
1 | g.7663805C= | CA1152023750 | CAMTA1 | c.1258C= (p.His420=) c.*1109C= (n.*1109C=) c.1168C= (p.His390=) c.1186C= (p.His396=) c.*1027C= (n.*1027C=) c.1246C= (p.His416=) | |
1 | g.7663805C>G | CA338126463 | CAMTA1 | c.1258C>G (p.His420Asp) c.*1109C>G (n.*1109C>G) c.1168C>G (p.His390Asp) c.1186C>G (p.His396Asp) c.*1027C>G (n.*1027C>G) c.1246C>G (p.His416Asp) | |
1 | g.7663805C>T | CA338126460 | CAMTA1 | c.1258C>T (p.His420Tyr) c.*1109C>T (n.*1109C>T) c.1168C>T (p.His390Tyr) c.1186C>T (p.His396Tyr) c.*1027C>T (n.*1027C>T) c.1246C>T (p.His416Tyr) | dbSNP |
1 | g.7663806A>C | CA338126465 | CAMTA1 | c.1259A>C (p.His420Pro) c.*1110A>C (n.*1110A>C) c.1169A>C (p.His390Pro) c.1187A>C (p.His396Pro) c.*1028A>C (n.*1028A>C) c.1247A>C (p.His416Pro) | |
1 | g.7663806A>G | CA338126473 | CAMTA1 | c.1259A>G (p.His420Arg) c.*1110A>G (n.*1110A>G) c.1169A>G (p.His390Arg) c.1187A>G (p.His396Arg) c.*1028A>G (n.*1028A>G) c.1247A>G (p.His416Arg) | |
1 | g.7663806A>T | CA338126466 | CAMTA1 | c.1259A>T (p.His420Leu) c.*1110A>T (n.*1110A>T) c.1169A>T (p.His390Leu) c.1187A>T (p.His396Leu) c.*1028A>T (n.*1028A>T) c.1247A>T (p.His416Leu) | |
1 | g.7663807C>A | CA338126474 | CAMTA1 | c.1260C>A (p.His420Gln) c.*1111C>A (n.*1111C>A) c.1170C>A (p.His390Gln) c.1188C>A (p.His396Gln) c.*1029C>A (n.*1029C>A) c.1248C>A (p.His416Gln) | |
1 | g.7663807C= | CA1152023751 | CAMTA1 | c.1260C= (p.His420=) c.*1111C= (n.*1111C=) c.1170C= (p.His390=) c.1188C= (p.His396=) c.*1029C= (n.*1029C=) c.1248C= (p.His416=) | |
1 | g.7663807C>G | CA17244303 | CAMTA1 | c.1260C>G (p.His420Gln) c.*1111C>G (n.*1111C>G) c.1170C>G (p.His390Gln) c.1188C>G (p.His396Gln) c.*1029C>G (n.*1029C>G) c.1248C>G (p.His416Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663807C>T | CA416026772 | CAMTA1 | c.1260C>T (p.His420=) c.*1111C>T (n.*1111C>T) c.1170C>T (p.His390=) c.1188C>T (p.His396=) c.*1029C>T (n.*1029C>T) c.1248C>T (p.His416=) | |
1 | g.7663808C>A | CA338126476 | CAMTA1 | c.1261C>A (p.His421Asn) c.*1112C>A (n.*1112C>A) c.1171C>A (p.His391Asn) c.1189C>A (p.His397Asn) c.*1030C>A (n.*1030C>A) c.1249C>A (p.His417Asn) | |
1 | g.7663808C>G | CA338126478 | CAMTA1 | c.1261C>G (p.His421Asp) c.*1112C>G (n.*1112C>G) c.1171C>G (p.His391Asp) c.1189C>G (p.His397Asp) c.*1030C>G (n.*1030C>G) c.1249C>G (p.His417Asp) | |
1 | g.7663808C>T | CA338126480 | CAMTA1 | c.1261C>T (p.His421Tyr) c.*1112C>T (n.*1112C>T) c.1171C>T (p.His391Tyr) c.1189C>T (p.His397Tyr) c.*1030C>T (n.*1030C>T) c.1249C>T (p.His417Tyr) | |
1 | g.7663809A= | CA1152023752 | CAMTA1 | c.1262A= (p.His421=) c.*1113A= (n.*1113A=) c.1172A= (p.His391=) c.1190A= (p.His397=) c.*1031A= (n.*1031A=) c.1250A= (p.His417=) | |
1 | g.7663809A>C | CA338126482 | CAMTA1 | c.1262A>C (p.His421Pro) c.*1113A>C (n.*1113A>C) c.1172A>C (p.His391Pro) c.1190A>C (p.His397Pro) c.*1031A>C (n.*1031A>C) c.1250A>C (p.His417Pro) | dbSNP |
1 | g.7663809A>G | CA338126483 | CAMTA1 | c.1262A>G (p.His421Arg) c.*1113A>G (n.*1113A>G) c.1172A>G (p.His391Arg) c.1190A>G (p.His397Arg) c.*1031A>G (n.*1031A>G) c.1250A>G (p.His417Arg) | |
1 | g.7663809A>T | CA338126485 | CAMTA1 | c.1262A>T (p.His421Leu) c.*1113A>T (n.*1113A>T) c.1172A>T (p.His391Leu) c.1190A>T (p.His397Leu) c.*1031A>T (n.*1031A>T) c.1250A>T (p.His417Leu) | |
1 | g.7663810C>A | CA338126490 | CAMTA1 | c.1263C>A (p.His421Gln) c.*1114C>A (n.*1114C>A) c.1173C>A (p.His391Gln) c.1191C>A (p.His397Gln) c.*1032C>A (n.*1032C>A) c.1251C>A (p.His417Gln) | gnomAD v4 |
1 | g.7663810C= | CA1152023753 | CAMTA1 | c.1263C= (p.His421=) c.*1114C= (n.*1114C=) c.1173C= (p.His391=) c.1191C= (p.His397=) c.*1032C= (n.*1032C=) c.1251C= (p.His417=) | |
1 | g.7663810C>G | CA338126492 | CAMTA1 | c.1263C>G (p.His421Gln) c.*1114C>G (n.*1114C>G) c.1173C>G (p.His391Gln) c.1191C>G (p.His397Gln) c.*1032C>G (n.*1032C>G) c.1251C>G (p.His417Gln) | |
1 | g.7663810C>T | CA416026785 | CAMTA1 | c.1263C>T (p.His421=) c.*1114C>T (n.*1114C>T) c.1173C>T (p.His391=) c.1191C>T (p.His397=) c.*1032C>T (n.*1032C>T) c.1251C>T (p.His417=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663814_7663816dup | CA566413 | CAMTA1 | c.1267_1269dup (p.Leu423_Ser424insLeu) c.*1118_*1120dup (n.*1118_*1120dup) c.1177_1179dup (p.Leu393_Ser394insLeu) c.1195_1197dup (p.Leu399_Ser400insLeu) c.*1036_*1038dup (n.*1036_*1038dup) c.1255_1257dup (p.Leu419_Ser420insLeu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663811C>A | CA338126496 | CAMTA1 | c.1264C>A (p.Leu422Ile) c.*1115C>A (n.*1115C>A) c.1174C>A (p.Leu392Ile) c.1192C>A (p.Leu398Ile) c.*1033C>A (n.*1033C>A) c.1252C>A (p.Leu418Ile) | |
1 | g.7663811C= | CA1152023754 | CAMTA1 | c.1264C= (p.Leu422=) c.*1115C= (n.*1115C=) c.1174C= (p.Leu392=) c.1192C= (p.Leu398=) c.*1033C= (n.*1033C=) c.1252C= (p.Leu418=) | |
1 | g.7663811C>G | CA338126499 | CAMTA1 | c.1264C>G (p.Leu422Val) c.*1115C>G (n.*1115C>G) c.1174C>G (p.Leu392Val) c.1192C>G (p.Leu398Val) c.*1033C>G (n.*1033C>G) c.1252C>G (p.Leu418Val) | |
1 | g.7663811C>T | CA566414 | CAMTA1 | c.1264C>T (p.Leu422Phe) c.*1115C>T (n.*1115C>T) c.1174C>T (p.Leu392Phe) c.1192C>T (p.Leu398Phe) c.*1033C>T (n.*1033C>T) c.1252C>T (p.Leu418Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663812T>A | CA338126501 | CAMTA1 | c.1265T>A (p.Leu422His) c.*1116T>A (n.*1116T>A) c.1175T>A (p.Leu392His) c.1193T>A (p.Leu398His) c.*1034T>A (n.*1034T>A) c.1253T>A (p.Leu418His) | |
1 | g.7663812T>C | CA338126503 | CAMTA1 | c.1265T>C (p.Leu422Pro) c.*1116T>C (n.*1116T>C) c.1175T>C (p.Leu392Pro) c.1193T>C (p.Leu398Pro) c.*1034T>C (n.*1034T>C) c.1253T>C (p.Leu418Pro) | |
1 | g.7663812T>G | CA338126506 | CAMTA1 | c.1265T>G (p.Leu422Arg) c.*1116T>G (n.*1116T>G) c.1175T>G (p.Leu392Arg) c.1193T>G (p.Leu398Arg) c.*1034T>G (n.*1034T>G) c.1253T>G (p.Leu418Arg) | |
1 | g.7663813C>A | CA416026788 | CAMTA1 | c.1266C>A (p.Leu422=) c.*1117C>A (n.*1117C>A) c.1176C>A (p.Leu392=) c.1194C>A (p.Leu398=) c.*1035C>A (n.*1035C>A) c.1254C>A (p.Leu418=) | gnomAD v4 |
1 | g.7663813C>G | CA416026789 | CAMTA1 | c.1266C>G (p.Leu422=) c.*1117C>G (n.*1117C>G) c.1176C>G (p.Leu392=) c.1194C>G (p.Leu398=) c.*1035C>G (n.*1035C>G) c.1254C>G (p.Leu418=) | |
1 | g.7663813C>T | CA416026790 | CAMTA1 | c.1266C>T (p.Leu422=) c.*1117C>T (n.*1117C>T) c.1176C>T (p.Leu392=) c.1194C>T (p.Leu398=) c.*1035C>T (n.*1035C>T) c.1254C>T (p.Leu418=) | gnomAD v4 |
1 | g.7663814C>A | CA338126509 | CAMTA1 | c.1267C>A (p.Leu423Ile) c.*1118C>A (n.*1118C>A) c.1177C>A (p.Leu393Ile) c.1195C>A (p.Leu399Ile) c.*1036C>A (n.*1036C>A) c.1255C>A (p.Leu419Ile) | |
1 | g.7663814C= | CA1152023755 | CAMTA1 | c.1267C= (p.Leu423=) c.*1118C= (n.*1118C=) c.1177C= (p.Leu393=) c.1195C= (p.Leu399=) c.*1036C= (n.*1036C=) c.1255C= (p.Leu419=) | |
1 | g.7663814C>G | CA338126512 | CAMTA1 | c.1267C>G (p.Leu423Val) c.*1118C>G (n.*1118C>G) c.1177C>G (p.Leu393Val) c.1195C>G (p.Leu399Val) c.*1036C>G (n.*1036C>G) c.1255C>G (p.Leu419Val) | gnomAD v4 |
1 | g.7663814C>T | CA338126513 | CAMTA1 | c.1267C>T (p.Leu423Phe) c.*1118C>T (n.*1118C>T) c.1177C>T (p.Leu393Phe) c.1195C>T (p.Leu399Phe) c.*1036C>T (n.*1036C>T) c.1255C>T (p.Leu419Phe) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663815T>A | CA338126514 | CAMTA1 | c.1268T>A (p.Leu423His) c.*1119T>A (n.*1119T>A) c.1178T>A (p.Leu393His) c.1196T>A (p.Leu399His) c.*1037T>A (n.*1037T>A) c.1256T>A (p.Leu419His) | |
1 | g.7663815T>C | CA338126515 | CAMTA1 | c.1268T>C (p.Leu423Pro) c.*1119T>C (n.*1119T>C) c.1178T>C (p.Leu393Pro) c.1196T>C (p.Leu399Pro) c.*1037T>C (n.*1037T>C) c.1256T>C (p.Leu419Pro) | |
1 | g.7663815T>G | CA338126517 | CAMTA1 | c.1268T>G (p.Leu423Arg) c.*1119T>G (n.*1119T>G) c.1178T>G (p.Leu393Arg) c.1196T>G (p.Leu399Arg) c.*1037T>G (n.*1037T>G) c.1256T>G (p.Leu419Arg) | |
1 | g.7663816C>A | CA416026803 | CAMTA1 | c.1269C>A (p.Leu423=) c.*1120C>A (n.*1120C>A) c.1179C>A (p.Leu393=) c.1197C>A (p.Leu399=) c.*1038C>A (n.*1038C>A) c.1257C>A (p.Leu419=) | |
1 | g.7663816C>G | CA416026804 | CAMTA1 | c.1269C>G (p.Leu423=) c.*1120C>G (n.*1120C>G) c.1179C>G (p.Leu393=) c.1197C>G (p.Leu399=) c.*1038C>G (n.*1038C>G) c.1257C>G (p.Leu419=) | |
1 | g.7663816C>T | CA416026806 | CAMTA1 | c.1269C>T (p.Leu423=) c.*1120C>T (n.*1120C>T) c.1179C>T (p.Leu393=) c.1197C>T (p.Leu399=) c.*1038C>T (n.*1038C>T) c.1257C>T (p.Leu419=) | |
1 | g.7663817T>A | CA338126523 | CAMTA1 | c.1270T>A (p.Ser424Thr) c.*1121T>A (n.*1121T>A) c.1180T>A (p.Ser394Thr) c.1198T>A (p.Ser400Thr) c.*1039T>A (n.*1039T>A) c.1258T>A (p.Ser420Thr) | |
1 | g.7663817T>C | CA338126526 | CAMTA1 | c.1270T>C (p.Ser424Pro) c.*1121T>C (n.*1121T>C) c.1180T>C (p.Ser394Pro) c.1198T>C (p.Ser400Pro) c.*1039T>C (n.*1039T>C) c.1258T>C (p.Ser420Pro) | |
1 | g.7663817T>G | CA338126520 | CAMTA1 | c.1270T>G (p.Ser424Ala) c.*1121T>G (n.*1121T>G) c.1180T>G (p.Ser394Ala) c.1198T>G (p.Ser400Ala) c.*1039T>G (n.*1039T>G) c.1258T>G (p.Ser420Ala) | |
1 | g.7663818C>A | CA338126528 | CAMTA1 | c.1271C>A (p.Ser424Ter) c.*1122C>A (n.*1122C>A) c.1181C>A (p.Ser394Ter) c.1199C>A (p.Ser400Ter) c.*1040C>A (n.*1040C>A) c.1259C>A (p.Ser420Ter) | |
1 | g.7663818C>G | CA338126530 | CAMTA1 | c.1271C>G (p.Ser424Ter) c.*1122C>G (n.*1122C>G) c.1181C>G (p.Ser394Ter) c.1199C>G (p.Ser400Ter) c.*1040C>G (n.*1040C>G) c.1259C>G (p.Ser420Ter) | |
1 | g.7663818C>T | CA338126531 | CAMTA1 | c.1271C>T (p.Ser424Leu) c.*1122C>T (n.*1122C>T) c.1181C>T (p.Ser394Leu) c.1199C>T (p.Ser400Leu) c.*1040C>T (n.*1040C>T) c.1259C>T (p.Ser420Leu) | gnomAD v4 |
1 | g.7663819A= | CA1152023756 | CAMTA1 | c.1272A= (p.Ser424=) c.*1123A= (n.*1123A=) c.1182A= (p.Ser394=) c.1200A= (p.Ser400=) c.*1041A= (n.*1041A=) c.1260A= (p.Ser420=) | |
1 | g.7663819A>C | CA416026811 | CAMTA1 | c.1272A>C (p.Ser424=) c.*1123A>C (n.*1123A>C) c.1182A>C (p.Ser394=) c.1200A>C (p.Ser400=) c.*1041A>C (n.*1041A>C) c.1260A>C (p.Ser420=) | dbSNP |
1 | g.7663819A>G | CA416026813 | CAMTA1 | c.1272A>G (p.Ser424=) c.*1123A>G (n.*1123A>G) c.1182A>G (p.Ser394=) c.1200A>G (p.Ser400=) c.*1041A>G (n.*1041A>G) c.1260A>G (p.Ser420=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663819A>T | CA416026815 | CAMTA1 | c.1272A>T (p.Ser424=) c.*1123A>T (n.*1123A>T) c.1182A>T (p.Ser394=) c.1200A>T (p.Ser400=) c.*1041A>T (n.*1041A>T) c.1260A>T (p.Ser420=) | |
1 | g.7663820C>A | CA338126533 | CAMTA1 | c.1273C>A (p.Pro425Thr) c.*1124C>A (n.*1124C>A) c.1183C>A (p.Pro395Thr) c.1201C>A (p.Pro401Thr) c.*1042C>A (n.*1042C>A) c.1261C>A (p.Pro421Thr) | |
1 | g.7663820C>G | CA338126534 | CAMTA1 | c.1273C>G (p.Pro425Ala) c.*1124C>G (n.*1124C>G) c.1183C>G (p.Pro395Ala) c.1201C>G (p.Pro401Ala) c.*1042C>G (n.*1042C>G) c.1261C>G (p.Pro421Ala) | |
1 | g.7663820C>T | CA338126535 | CAMTA1 | c.1273C>T (p.Pro425Ser) c.*1124C>T (n.*1124C>T) c.1183C>T (p.Pro395Ser) c.1201C>T (p.Pro401Ser) c.*1042C>T (n.*1042C>T) c.1261C>T (p.Pro421Ser) | |
1 | g.7663821C>A | CA338126536 | CAMTA1 | c.1274C>A (p.Pro425His) c.*1125C>A (n.*1125C>A) c.1184C>A (p.Pro395His) c.1202C>A (p.Pro401His) c.*1043C>A (n.*1043C>A) c.1262C>A (p.Pro421His) | |
1 | g.7663821C>G | CA338126539 | CAMTA1 | c.1274C>G (p.Pro425Arg) c.*1125C>G (n.*1125C>G) c.1184C>G (p.Pro395Arg) c.1202C>G (p.Pro401Arg) c.*1043C>G (n.*1043C>G) c.1262C>G (p.Pro421Arg) | |
1 | g.7663821C>T | CA338126541 | CAMTA1 | c.1274C>T (p.Pro425Leu) c.*1125C>T (n.*1125C>T) c.1184C>T (p.Pro395Leu) c.1202C>T (p.Pro401Leu) c.*1043C>T (n.*1043C>T) c.1262C>T (p.Pro421Leu) | |
1 | g.7663822T>A | CA416026825 | CAMTA1 | c.1275T>A (p.Pro425=) c.*1126T>A (n.*1126T>A) c.1185T>A (p.Pro395=) c.1203T>A (p.Pro401=) c.*1044T>A (n.*1044T>A) c.1263T>A (p.Pro421=) | |
1 | g.7663822T>C | CA416026830 | CAMTA1 | c.1275T>C (p.Pro425=) c.*1126T>C (n.*1126T>C) c.1185T>C (p.Pro395=) c.1203T>C (p.Pro401=) c.*1044T>C (n.*1044T>C) c.1263T>C (p.Pro421=) | |
1 | g.7663822T>G | CA416026827 | CAMTA1 | c.1275T>G (p.Pro425=) c.*1126T>G (n.*1126T>G) c.1185T>G (p.Pro395=) c.1203T>G (p.Pro401=) c.*1044T>G (n.*1044T>G) c.1263T>G (p.Pro421=) | |
1 | g.7663823G>A | CA338126544 | CAMTA1 | c.1276G>A (p.Asp426Asn) c.*1127G>A (n.*1127G>A) c.1186G>A (p.Asp396Asn) c.1204G>A (p.Asp402Asn) c.*1045G>A (n.*1045G>A) c.1264G>A (p.Asp422Asn) | |
1 | g.7663823G>C | CA338126546 | CAMTA1 | c.1276G>C (p.Asp426His) c.*1127G>C (n.*1127G>C) c.1186G>C (p.Asp396His) c.1204G>C (p.Asp402His) c.*1045G>C (n.*1045G>C) c.1264G>C (p.Asp422His) | |
1 | g.7663823G>T | CA338126547 | CAMTA1 | c.1276G>T (p.Asp426Tyr) c.*1127G>T (n.*1127G>T) c.1186G>T (p.Asp396Tyr) c.1204G>T (p.Asp402Tyr) c.*1045G>T (n.*1045G>T) c.1264G>T (p.Asp422Tyr) | |
1 | g.7663824A= | CA1152023757 | CAMTA1 | c.1277A= (p.Asp426=) c.*1128A= (n.*1128A=) c.1187A= (p.Asp396=) c.1205A= (p.Asp402=) c.*1046A= (n.*1046A=) c.1265A= (p.Asp422=) | |
1 | g.7663824A>C | CA338126552 | CAMTA1 | c.1277A>C (p.Asp426Ala) c.*1128A>C (n.*1128A>C) c.1187A>C (p.Asp396Ala) c.1205A>C (p.Asp402Ala) c.*1046A>C (n.*1046A>C) c.1265A>C (p.Asp422Ala) | gnomAD v4 |
1 | g.7663824A>G | CA566415 | CAMTA1 | c.1277A>G (p.Asp426Gly) c.*1128A>G (n.*1128A>G) c.1187A>G (p.Asp396Gly) c.1205A>G (p.Asp402Gly) c.*1046A>G (n.*1046A>G) c.1265A>G (p.Asp422Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663824A>T | CA338126550 | CAMTA1 | c.1277A>T (p.Asp426Val) c.*1128A>T (n.*1128A>T) c.1187A>T (p.Asp396Val) c.1205A>T (p.Asp402Val) c.*1046A>T (n.*1046A>T) c.1265A>T (p.Asp422Val) | |
1 | g.7663825C>A | CA338126553 | CAMTA1 | c.1278C>A (p.Asp426Glu) c.*1129C>A (n.*1129C>A) c.1188C>A (p.Asp396Glu) c.1206C>A (p.Asp402Glu) c.*1047C>A (n.*1047C>A) c.1266C>A (p.Asp422Glu) | |
1 | g.7663825C= | CA1143624647 | CAMTA1 | c.1278C= (p.Asp426=) c.*1129C= (n.*1129C=) c.1188C= (p.Asp396=) c.1206C= (p.Asp402=) c.*1047C= (n.*1047C=) c.1266C= (p.Asp422=) | |
1 | g.7663825C>G | CA338126555 | CAMTA1 | c.1278C>G (p.Asp426Glu) c.*1129C>G (n.*1129C>G) c.1188C>G (p.Asp396Glu) c.1206C>G (p.Asp402Glu) c.*1047C>G (n.*1047C>G) c.1266C>G (p.Asp422Glu) | |
1 | g.7663825C>T | CA566416 | CAMTA1 | c.1278C>T (p.Asp426=) c.*1129C>T (n.*1129C>T) c.1188C>T (p.Asp396=) c.1206C>T (p.Asp402=) c.*1047C>T (n.*1047C>T) c.1266C>T (p.Asp422=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663826G>A | CA566417 | CAMTA1 | c.1279G>A (p.Ala427Thr) c.*1130G>A (n.*1130G>A) c.1189G>A (p.Ala397Thr) c.1207G>A (p.Ala403Thr) c.*1048G>A (n.*1048G>A) c.1267G>A (p.Ala423Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663826G>C | CA338126563 | CAMTA1 | c.1279G>C (p.Ala427Pro) c.*1130G>C (n.*1130G>C) c.1189G>C (p.Ala397Pro) c.1207G>C (p.Ala403Pro) c.*1048G>C (n.*1048G>C) c.1267G>C (p.Ala423Pro) | |
1 | g.7663826G= | CA1143457247 | CAMTA1 | c.1279G= (p.Ala427=) c.*1130G= (n.*1130G=) c.1189G= (p.Ala397=) c.1207G= (p.Ala403=) c.*1048G= (n.*1048G=) c.1267G= (p.Ala423=) | |
1 | g.7663826G>T | CA338126566 | CAMTA1 | c.1279G>T (p.Ala427Ser) c.*1130G>T (n.*1130G>T) c.1189G>T (p.Ala397Ser) c.1207G>T (p.Ala403Ser) c.*1048G>T (n.*1048G>T) c.1267G>T (p.Ala423Ser) | |
1 | g.7663827C>A | CA338126568 | CAMTA1 | c.1280C>A (p.Ala427Asp) c.*1131C>A (n.*1131C>A) c.1190C>A (p.Ala397Asp) c.1208C>A (p.Ala403Asp) c.*1049C>A (n.*1049C>A) c.1268C>A (p.Ala423Asp) | |
1 | g.7663827C>G | CA338126571 | CAMTA1 | c.1280C>G (p.Ala427Gly) c.*1131C>G (n.*1131C>G) c.1190C>G (p.Ala397Gly) c.1208C>G (p.Ala403Gly) c.*1049C>G (n.*1049C>G) c.1268C>G (p.Ala423Gly) | |
1 | g.7663827C>T | CA338126573 | CAMTA1 | c.1280C>T (p.Ala427Val) c.*1131C>T (n.*1131C>T) c.1190C>T (p.Ala397Val) c.1208C>T (p.Ala403Val) c.*1049C>T (n.*1049C>T) c.1268C>T (p.Ala423Val) | |
1 | g.7663828C>A | CA416026840 | CAMTA1 | c.1281C>A (p.Ala427=) c.*1132C>A (n.*1132C>A) c.1191C>A (p.Ala397=) c.1209C>A (p.Ala403=) c.*1050C>A (n.*1050C>A) c.1269C>A (p.Ala423=) | |
1 | g.7663828C= | CA1152023758 | CAMTA1 | c.1281C= (p.Ala427=) c.*1132C= (n.*1132C=) c.1191C= (p.Ala397=) c.1209C= (p.Ala403=) c.*1050C= (n.*1050C=) c.1269C= (p.Ala423=) | |
1 | g.7663828C>G | CA416026843 | CAMTA1 | c.1281C>G (p.Ala427=) c.*1132C>G (n.*1132C>G) c.1191C>G (p.Ala397=) c.1209C>G (p.Ala403=) c.*1050C>G (n.*1050C>G) c.1269C>G (p.Ala423=) | |
1 | g.7663828C>T | CA416026841 | CAMTA1 | c.1281C>T (p.Ala427=) c.*1132C>T (n.*1132C>T) c.1191C>T (p.Ala397=) c.1209C>T (p.Ala403=) c.*1050C>T (n.*1050C>T) c.1269C>T (p.Ala423=) | dbSNP gnomAD v4 |
1 | g.7663829T>A | CA338126576 | CAMTA1 | c.1282T>A (p.Ser428Thr) c.*1133T>A (n.*1133T>A) c.1192T>A (p.Ser398Thr) c.1210T>A (p.Ser404Thr) c.*1051T>A (n.*1051T>A) c.1270T>A (p.Ser424Thr) | |
1 | g.7663829T>C | CA338126577 | CAMTA1 | c.1282T>C (p.Ser428Pro) c.*1133T>C (n.*1133T>C) c.1192T>C (p.Ser398Pro) c.1210T>C (p.Ser404Pro) c.*1051T>C (n.*1051T>C) c.1270T>C (p.Ser424Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663829T>G | CA338126580 | CAMTA1 | c.1282T>G (p.Ser428Ala) c.*1133T>G (n.*1133T>G) c.1192T>G (p.Ser398Ala) c.1210T>G (p.Ser404Ala) c.*1051T>G (n.*1051T>G) c.1270T>G (p.Ser424Ala) | |
1 | g.7663829T= | CA1152023759 | CAMTA1 | c.1282T= (p.Ser428=) c.*1133T= (n.*1133T=) c.1192T= (p.Ser398=) c.1210T= (p.Ser404=) c.*1051T= (n.*1051T=) c.1270T= (p.Ser424=) | |
1 | g.7663830C>A | CA338126585 | CAMTA1 | c.1283C>A (p.Ser428Tyr) c.*1134C>A (n.*1134C>A) c.1193C>A (p.Ser398Tyr) c.1211C>A (p.Ser404Tyr) c.*1052C>A (n.*1052C>A) c.1271C>A (p.Ser424Tyr) | |
1 | g.7663830C>G | CA338126586 | CAMTA1 | c.1283C>G (p.Ser428Cys) c.*1134C>G (n.*1134C>G) c.1193C>G (p.Ser398Cys) c.1211C>G (p.Ser404Cys) c.*1052C>G (n.*1052C>G) c.1271C>G (p.Ser424Cys) | |
1 | g.7663830C>T | CA338126583 | CAMTA1 | c.1283C>T (p.Ser428Phe) c.*1134C>T (n.*1134C>T) c.1193C>T (p.Ser398Phe) c.1211C>T (p.Ser404Phe) c.*1052C>T (n.*1052C>T) c.1271C>T (p.Ser424Phe) | |
1 | g.7663831T>A | CA416026855 | CAMTA1 | c.1284T>A (p.Ser428=) c.*1135T>A (n.*1135T>A) c.1194T>A (p.Ser398=) c.1212T>A (p.Ser404=) c.*1053T>A (n.*1053T>A) c.1272T>A (p.Ser424=) | |
1 | g.7663831T>C | CA416026866 | CAMTA1 | c.1284T>C (p.Ser428=) c.*1135T>C (n.*1135T>C) c.1194T>C (p.Ser398=) c.1212T>C (p.Ser404=) c.*1053T>C (n.*1053T>C) c.1272T>C (p.Ser424=) | |
1 | g.7663831T>G | CA416026868 | CAMTA1 | c.1284T>G (p.Ser428=) c.*1135T>G (n.*1135T>G) c.1194T>G (p.Ser398=) c.1212T>G (p.Ser404=) c.*1053T>G (n.*1053T>G) c.1272T>G (p.Ser424=) | |
1 | g.7663832C>A | CA338126593 | CAMTA1 | c.1285C>A (p.Gln429Lys) c.*1136C>A (n.*1136C>A) c.1195C>A (p.Gln399Lys) c.1213C>A (p.Gln405Lys) c.*1054C>A (n.*1054C>A) c.1273C>A (p.Gln425Lys) | |
1 | g.7663832C>G | CA338126589 | CAMTA1 | c.1285C>G (p.Gln429Glu) c.*1136C>G (n.*1136C>G) c.1195C>G (p.Gln399Glu) c.1213C>G (p.Gln405Glu) c.*1054C>G (n.*1054C>G) c.1273C>G (p.Gln425Glu) | |
1 | g.7663832C>T | CA338126592 | CAMTA1 | c.1285C>T (p.Gln429Ter) c.*1136C>T (n.*1136C>T) c.1195C>T (p.Gln399Ter) c.1213C>T (p.Gln405Ter) c.*1054C>T (n.*1054C>T) c.1273C>T (p.Gln425Ter) | |
1 | g.7663833A= | CA1152023760 | CAMTA1 | c.1286A= (p.Gln429=) c.*1137A= (n.*1137A=) c.1196A= (p.Gln399=) c.1214A= (p.Gln405=) c.*1055A= (n.*1055A=) c.1274A= (p.Gln425=) | |
1 | g.7663833A>C | CA338126596 | CAMTA1 | c.1286A>C (p.Gln429Pro) c.*1137A>C (n.*1137A>C) c.1196A>C (p.Gln399Pro) c.1214A>C (p.Gln405Pro) c.*1055A>C (n.*1055A>C) c.1274A>C (p.Gln425Pro) | gnomAD v4 |
1 | g.7663833A>G | CA338126598 | CAMTA1 | c.1286A>G (p.Gln429Arg) c.*1137A>G (n.*1137A>G) c.1196A>G (p.Gln399Arg) c.1214A>G (p.Gln405Arg) c.*1055A>G (n.*1055A>G) c.1274A>G (p.Gln425Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663833A>T | CA338126601 | CAMTA1 | c.1286A>T (p.Gln429Leu) c.*1137A>T (n.*1137A>T) c.1196A>T (p.Gln399Leu) c.1214A>T (p.Gln405Leu) c.*1055A>T (n.*1055A>T) c.1274A>T (p.Gln425Leu) | |
1 | g.7663834G>A | CA416026873 | CAMTA1 | c.1287G>A (p.Gln429=) c.*1138G>A (n.*1138G>A) c.1197G>A (p.Gln399=) c.1215G>A (p.Gln405=) c.*1056G>A (n.*1056G>A) c.1275G>A (p.Gln425=) | |
1 | g.7663834G>C | CA338126604 | CAMTA1 | c.1287G>C (p.Gln429His) c.*1138G>C (n.*1138G>C) c.1197G>C (p.Gln399His) c.1215G>C (p.Gln405His) c.*1056G>C (n.*1056G>C) c.1275G>C (p.Gln425His) | ClinVar |
1 | g.7663834G>T | CA338126605 | CAMTA1 | c.1287G>T (p.Gln429His) c.*1138G>T (n.*1138G>T) c.1197G>T (p.Gln399His) c.1215G>T (p.Gln405His) c.*1056G>T (n.*1056G>T) c.1275G>T (p.Gln425His) |