| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.123319754C>A | CA354217904 | ADCY5 | c.853G>T (p.Ala285Ser) c.1141G>T (p.Ala381Ser) c.2176G>T (p.Ala726Ser) n.435G>T c.1126G>T (p.Ala376Ser) c.1075G>T (p.Ala359Ser) c.1177G>T (p.Ala393Ser) c.1087G>T (p.Ala363Ser) c.1078G>T (p.Ala360Ser) | |
| 3 | g.123319754C= | CA1398343563 | ADCY5 | c.853G= (p.Ala285=) c.1141G= (p.Ala381=) c.2176G= (p.Ala726=) n.435G= c.1126G= (p.Ala376=) c.1075G= (p.Ala359=) c.1177G= (p.Ala393=) c.1087G= (p.Ala363=) c.1078G= (p.Ala360=) | |
| 3 | g.123319754C>G | CA354217905 | ADCY5 | c.853G>C (p.Ala285Pro) c.1141G>C (p.Ala381Pro) c.2176G>C (p.Ala726Pro) n.435G>C c.1126G>C (p.Ala376Pro) c.1075G>C (p.Ala359Pro) c.1177G>C (p.Ala393Pro) c.1087G>C (p.Ala363Pro) c.1078G>C (p.Ala360Pro) | |
| 3 | g.123319754C>T | CA342901 | ADCY5 | c.853G>A (p.Ala285Thr) c.1141G>A (p.Ala381Thr) c.2176G>A (p.Ala726Thr) n.435G>A c.1126G>A (p.Ala376Thr) c.1075G>A (p.Ala359Thr) c.1177G>A (p.Ala393Thr) c.1087G>A (p.Ala363Thr) c.1078G>A (p.Ala360Thr) | ClinVar dbSNP |
| 3 | g.123319755G>A | CA2577221 | ADCY5 | c.852C>T (p.Asp284=) c.1140C>T (p.Asp380=) c.2175C>T (p.Asp725=) n.434C>T c.1125C>T (p.Asp375=) c.1074C>T (p.Asp358=) c.1176C>T (p.Asp392=) c.1086C>T (p.Asp362=) c.1077C>T (p.Asp359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319755G>C | CA354217906 | ADCY5 | c.852C>G (p.Asp284Glu) c.1140C>G (p.Asp380Glu) c.2175C>G (p.Asp725Glu) n.434C>G c.1125C>G (p.Asp375Glu) c.1074C>G (p.Asp358Glu) c.1176C>G (p.Asp392Glu) c.1086C>G (p.Asp362Glu) c.1077C>G (p.Asp359Glu) | |
| 3 | g.123319755G= | CA1398343564 | ADCY5 | c.852C= (p.Asp284=) c.1140C= (p.Asp380=) c.2175C= (p.Asp725=) n.434C= c.1125C= (p.Asp375=) c.1074C= (p.Asp358=) c.1176C= (p.Asp392=) c.1086C= (p.Asp362=) c.1077C= (p.Asp359=) | |
| 3 | g.123319755G>T | CA354217907 | ADCY5 | c.852C>A (p.Asp284Glu) c.1140C>A (p.Asp380Glu) c.2175C>A (p.Asp725Glu) n.434C>A c.1125C>A (p.Asp375Glu) c.1074C>A (p.Asp358Glu) c.1176C>A (p.Asp392Glu) c.1086C>A (p.Asp362Glu) c.1077C>A (p.Asp359Glu) | |
| 3 | g.123319756T>A | CA354217908 | ADCY5 | c.851A>T (p.Asp284Val) c.1139A>T (p.Asp380Val) c.2174A>T (p.Asp725Val) n.433A>T c.1124A>T (p.Asp375Val) c.1073A>T (p.Asp358Val) c.1175A>T (p.Asp392Val) c.1085A>T (p.Asp362Val) c.1076A>T (p.Asp359Val) | |
| 3 | g.123319756T>C | CA354217909 | ADCY5 | c.851A>G (p.Asp284Gly) c.1139A>G (p.Asp380Gly) c.2174A>G (p.Asp725Gly) n.433A>G c.1124A>G (p.Asp375Gly) c.1073A>G (p.Asp358Gly) c.1175A>G (p.Asp392Gly) c.1085A>G (p.Asp362Gly) c.1076A>G (p.Asp359Gly) | |
| 3 | g.123319756T>G | CA354217910 | ADCY5 | c.851A>C (p.Asp284Ala) c.1139A>C (p.Asp380Ala) c.2174A>C (p.Asp725Ala) n.433A>C c.1124A>C (p.Asp375Ala) c.1073A>C (p.Asp358Ala) c.1175A>C (p.Asp392Ala) c.1085A>C (p.Asp362Ala) c.1076A>C (p.Asp359Ala) | |
| 3 | g.123319757C>A | CA354217912 | ADCY5 | c.850G>T (p.Asp284Tyr) c.1138G>T (p.Asp380Tyr) c.2173G>T (p.Asp725Tyr) n.432G>T c.1123G>T (p.Asp375Tyr) c.1072G>T (p.Asp358Tyr) c.1174G>T (p.Asp392Tyr) c.1084G>T (p.Asp362Tyr) c.1075G>T (p.Asp359Tyr) | |
| 3 | g.123319757C>G | CA354217913 | ADCY5 | c.850G>C (p.Asp284His) c.1138G>C (p.Asp380His) c.2173G>C (p.Asp725His) n.432G>C c.1123G>C (p.Asp375His) c.1072G>C (p.Asp358His) c.1174G>C (p.Asp392His) c.1084G>C (p.Asp362His) c.1075G>C (p.Asp359His) | |
| 3 | g.123319757C>T | CA354217911 | ADCY5 | c.850G>A (p.Asp284Asn) c.1138G>A (p.Asp380Asn) c.2173G>A (p.Asp725Asn) n.432G>A c.1123G>A (p.Asp375Asn) c.1072G>A (p.Asp358Asn) c.1174G>A (p.Asp392Asn) c.1084G>A (p.Asp362Asn) c.1075G>A (p.Asp359Asn) | |
| 3 | g.123319758A>C | CA354217914 | ADCY5 | c.849T>G (p.Ile283Met) c.1137T>G (p.Ile379Met) c.2172T>G (p.Ile724Met) n.431T>G c.1122T>G (p.Ile374Met) c.1071T>G (p.Ile357Met) c.1173T>G (p.Ile391Met) c.1083T>G (p.Ile361Met) c.1074T>G (p.Ile358Met) | |
| 3 | g.123319758A>G | CA435293182 | ADCY5 | c.849T>C (p.Ile283=) c.1137T>C (p.Ile379=) c.2172T>C (p.Ile724=) n.431T>C c.1122T>C (p.Ile374=) c.1071T>C (p.Ile357=) c.1173T>C (p.Ile391=) c.1083T>C (p.Ile361=) c.1074T>C (p.Ile358=) | |
| 3 | g.123319758A>T | CA435293183 | ADCY5 | c.849T>A (p.Ile283=) c.1137T>A (p.Ile379=) c.2172T>A (p.Ile724=) n.431T>A c.1122T>A (p.Ile374=) c.1071T>A (p.Ile357=) c.1173T>A (p.Ile391=) c.1083T>A (p.Ile361=) c.1074T>A (p.Ile358=) | |
| 3 | g.123319759A>C | CA354217915 | ADCY5 | c.848T>G (p.Ile283Ser) c.1136T>G (p.Ile379Ser) c.2171T>G (p.Ile724Ser) n.430T>G c.1121T>G (p.Ile374Ser) c.1070T>G (p.Ile357Ser) c.1172T>G (p.Ile391Ser) c.1082T>G (p.Ile361Ser) c.1073T>G (p.Ile358Ser) | |
| 3 | g.123319759A>G | CA354217916 | ADCY5 | c.848T>C (p.Ile283Thr) c.1136T>C (p.Ile379Thr) c.2171T>C (p.Ile724Thr) n.430T>C c.1121T>C (p.Ile374Thr) c.1070T>C (p.Ile357Thr) c.1172T>C (p.Ile391Thr) c.1082T>C (p.Ile361Thr) c.1073T>C (p.Ile358Thr) | |
| 3 | g.123319759A>T | CA354217917 | ADCY5 | c.848T>A (p.Ile283Asn) c.1136T>A (p.Ile379Asn) c.2171T>A (p.Ile724Asn) n.430T>A c.1121T>A (p.Ile374Asn) c.1070T>A (p.Ile357Asn) c.1172T>A (p.Ile391Asn) c.1082T>A (p.Ile361Asn) c.1073T>A (p.Ile358Asn) | |
| 3 | g.123319760T>A | CA354217920 | ADCY5 | c.847A>T (p.Ile283Phe) c.1135A>T (p.Ile379Phe) c.2170A>T (p.Ile724Phe) n.429A>T c.1120A>T (p.Ile374Phe) c.1069A>T (p.Ile357Phe) c.1171A>T (p.Ile391Phe) c.1081A>T (p.Ile361Phe) c.1072A>T (p.Ile358Phe) | |
| 3 | g.123319760T>C | CA354217919 | ADCY5 | c.847A>G (p.Ile283Val) c.1135A>G (p.Ile379Val) c.2170A>G (p.Ile724Val) n.429A>G c.1120A>G (p.Ile374Val) c.1069A>G (p.Ile357Val) c.1171A>G (p.Ile391Val) c.1081A>G (p.Ile361Val) c.1072A>G (p.Ile358Val) | |
| 3 | g.123319760T>G | CA354217918 | ADCY5 | c.847A>C (p.Ile283Leu) c.1135A>C (p.Ile379Leu) c.2170A>C (p.Ile724Leu) n.429A>C c.1120A>C (p.Ile374Leu) c.1069A>C (p.Ile357Leu) c.1171A>C (p.Ile391Leu) c.1081A>C (p.Ile361Leu) c.1072A>C (p.Ile358Leu) | |
| 3 | g.123319761G>A | CA435293184 | ADCY5 | c.846C>T (p.Ala282=) c.1134C>T (p.Ala378=) c.2169C>T (p.Ala723=) n.428C>T c.1119C>T (p.Ala373=) c.1068C>T (p.Ala356=) c.1170C>T (p.Ala390=) c.1080C>T (p.Ala360=) c.1071C>T (p.Ala357=) | dbSNP |
| 3 | g.123319761G>C | CA435293185 | ADCY5 | c.846C>G (p.Ala282=) c.1134C>G (p.Ala378=) c.2169C>G (p.Ala723=) n.428C>G c.1119C>G (p.Ala373=) c.1068C>G (p.Ala356=) c.1170C>G (p.Ala390=) c.1080C>G (p.Ala360=) c.1071C>G (p.Ala357=) | |
| 3 | g.123319761G= | CA1398343565 | ADCY5 | c.846C= (p.Ala282=) c.1134C= (p.Ala378=) c.2169C= (p.Ala723=) n.428C= c.1119C= (p.Ala373=) c.1068C= (p.Ala356=) c.1170C= (p.Ala390=) c.1080C= (p.Ala360=) c.1071C= (p.Ala357=) | |
| 3 | g.123319761G>T | CA435293186 | ADCY5 | c.846C>A (p.Ala282=) c.1134C>A (p.Ala378=) c.2169C>A (p.Ala723=) n.428C>A c.1119C>A (p.Ala373=) c.1068C>A (p.Ala356=) c.1170C>A (p.Ala390=) c.1080C>A (p.Ala360=) c.1071C>A (p.Ala357=) | |
| 3 | g.123319762G>A | CA354217921 | ADCY5 | c.845C>T (p.Ala282Val) c.1133C>T (p.Ala378Val) c.2168C>T (p.Ala723Val) n.427C>T c.1118C>T (p.Ala373Val) c.1067C>T (p.Ala356Val) c.1169C>T (p.Ala390Val) c.1079C>T (p.Ala360Val) c.1070C>T (p.Ala357Val) | |
| 3 | g.123319762G>C | CA354217922 | ADCY5 | c.845C>G (p.Ala282Gly) c.1133C>G (p.Ala378Gly) c.2168C>G (p.Ala723Gly) n.427C>G c.1118C>G (p.Ala373Gly) c.1067C>G (p.Ala356Gly) c.1169C>G (p.Ala390Gly) c.1079C>G (p.Ala360Gly) c.1070C>G (p.Ala357Gly) | |
| 3 | g.123319762G>T | CA354217923 | ADCY5 | c.845C>A (p.Ala282Asp) c.1133C>A (p.Ala378Asp) c.2168C>A (p.Ala723Asp) n.427C>A c.1118C>A (p.Ala373Asp) c.1067C>A (p.Ala356Asp) c.1169C>A (p.Ala390Asp) c.1079C>A (p.Ala360Asp) c.1070C>A (p.Ala357Asp) | |
| 3 | g.123319763C>A | CA354217924 | ADCY5 | c.844G>T (p.Ala282Ser) c.1132G>T (p.Ala378Ser) c.2167G>T (p.Ala723Ser) n.426G>T c.1117G>T (p.Ala373Ser) c.1066G>T (p.Ala356Ser) c.1168G>T (p.Ala390Ser) c.1078G>T (p.Ala360Ser) c.1069G>T (p.Ala357Ser) | |
| 3 | g.123319763C>G | CA354217925 | ADCY5 | c.844G>C (p.Ala282Pro) c.1132G>C (p.Ala378Pro) c.2167G>C (p.Ala723Pro) n.426G>C c.1117G>C (p.Ala373Pro) c.1066G>C (p.Ala356Pro) c.1168G>C (p.Ala390Pro) c.1078G>C (p.Ala360Pro) c.1069G>C (p.Ala357Pro) | |
| 3 | g.123319763C>T | CA354217926 | ADCY5 | c.844G>A (p.Ala282Thr) c.1132G>A (p.Ala378Thr) c.2167G>A (p.Ala723Thr) n.426G>A c.1117G>A (p.Ala373Thr) c.1066G>A (p.Ala356Thr) c.1168G>A (p.Ala390Thr) c.1078G>A (p.Ala360Thr) c.1069G>A (p.Ala357Thr) | |
| 3 | g.123319764A= | CA1398343566 | ADCY5 | c.843T= (p.Arg281=) c.1131T= (p.Arg377=) c.2166T= (p.Arg722=) n.425T= c.1116T= (p.Arg372=) c.1065T= (p.Arg355=) c.1167T= (p.Arg389=) c.1077T= (p.Arg359=) c.1068T= (p.Arg356=) | |
| 3 | g.123319764A>C | CA435293187 | ADCY5 | c.843T>G (p.Arg281=) c.1131T>G (p.Arg377=) c.2166T>G (p.Arg722=) n.425T>G c.1116T>G (p.Arg372=) c.1065T>G (p.Arg355=) c.1167T>G (p.Arg389=) c.1077T>G (p.Arg359=) c.1068T>G (p.Arg356=) | dbSNP gnomAD v4 |
| 3 | g.123319764A>G | CA435293188 | ADCY5 | c.843T>C (p.Arg281=) c.1131T>C (p.Arg377=) c.2166T>C (p.Arg722=) n.425T>C c.1116T>C (p.Arg372=) c.1065T>C (p.Arg355=) c.1167T>C (p.Arg389=) c.1077T>C (p.Arg359=) c.1068T>C (p.Arg356=) | |
| 3 | g.123319764A>T | CA435293189 | ADCY5 | c.843T>A (p.Arg281=) c.1131T>A (p.Arg377=) c.2166T>A (p.Arg722=) n.425T>A c.1116T>A (p.Arg372=) c.1065T>A (p.Arg355=) c.1167T>A (p.Arg389=) c.1077T>A (p.Arg359=) c.1068T>A (p.Arg356=) | |
| 3 | g.123319765C>A | CA354217927 | ADCY5 | c.842G>T (p.Arg281Leu) c.1130G>T (p.Arg377Leu) c.2165G>T (p.Arg722Leu) n.424G>T c.1115G>T (p.Arg372Leu) c.1064G>T (p.Arg355Leu) c.1166G>T (p.Arg389Leu) c.1076G>T (p.Arg359Leu) c.1067G>T (p.Arg356Leu) | |
| 3 | g.123319765C= | CA1398343567 | ADCY5 | c.842G= (p.Arg281=) c.1130G= (p.Arg377=) c.2165G= (p.Arg722=) n.424G= c.1115G= (p.Arg372=) c.1064G= (p.Arg355=) c.1166G= (p.Arg389=) c.1076G= (p.Arg359=) c.1067G= (p.Arg356=) | |
| 3 | g.123319765C>G | CA354217929 | ADCY5 | c.842G>C (p.Arg281Pro) c.1130G>C (p.Arg377Pro) c.2165G>C (p.Arg722Pro) n.424G>C c.1115G>C (p.Arg372Pro) c.1064G>C (p.Arg355Pro) c.1166G>C (p.Arg389Pro) c.1076G>C (p.Arg359Pro) c.1067G>C (p.Arg356Pro) | |
| 3 | g.123319765C>T | CA354217928 | ADCY5 | c.842G>A (p.Arg281His) c.1130G>A (p.Arg377His) c.2165G>A (p.Arg722His) n.424G>A c.1115G>A (p.Arg372His) c.1064G>A (p.Arg355His) c.1166G>A (p.Arg389His) c.1076G>A (p.Arg359His) c.1067G>A (p.Arg356His) | ClinVar dbSNP COSMIC |
| 3 | g.123319766G>A | CA354217930 | ADCY5 | c.841C>T (p.Arg281Cys) c.1129C>T (p.Arg377Cys) c.2164C>T (p.Arg722Cys) n.423C>T c.1114C>T (p.Arg372Cys) c.1063C>T (p.Arg355Cys) c.1165C>T (p.Arg389Cys) c.1075C>T (p.Arg359Cys) c.1066C>T (p.Arg356Cys) | dbSNP gnomAD v4 COSMIC |
| 3 | g.123319766G>C | CA354217932 | ADCY5 | c.841C>G (p.Arg281Gly) c.1129C>G (p.Arg377Gly) c.2164C>G (p.Arg722Gly) n.423C>G c.1114C>G (p.Arg372Gly) c.1063C>G (p.Arg355Gly) c.1165C>G (p.Arg389Gly) c.1075C>G (p.Arg359Gly) c.1066C>G (p.Arg356Gly) | |
| 3 | g.123319766G= | CA1398343568 | ADCY5 | c.841C= (p.Arg281=) c.1129C= (p.Arg377=) c.2164C= (p.Arg722=) n.423C= c.1114C= (p.Arg372=) c.1063C= (p.Arg355=) c.1165C= (p.Arg389=) c.1075C= (p.Arg359=) c.1066C= (p.Arg356=) | |
| 3 | g.123319766G>T | CA354217931 | ADCY5 | c.841C>A (p.Arg281Ser) c.1129C>A (p.Arg377Ser) c.2164C>A (p.Arg722Ser) n.423C>A c.1114C>A (p.Arg372Ser) c.1063C>A (p.Arg355Ser) c.1165C>A (p.Arg389Ser) c.1075C>A (p.Arg359Ser) c.1066C>A (p.Arg356Ser) | |
| 3 | g.123319767G>A | CA2577222 | ADCY5 | c.840C>T (p.Gly280=) c.1128C>T (p.Gly376=) c.2163C>T (p.Gly721=) n.422C>T c.1113C>T (p.Gly371=) c.1062C>T (p.Gly354=) c.1164C>T (p.Gly388=) c.1074C>T (p.Gly358=) c.1065C>T (p.Gly355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319767G>C | CA435293190 | ADCY5 | c.840C>G (p.Gly280=) c.1128C>G (p.Gly376=) c.2163C>G (p.Gly721=) n.422C>G c.1113C>G (p.Gly371=) c.1062C>G (p.Gly354=) c.1164C>G (p.Gly388=) c.1074C>G (p.Gly358=) c.1065C>G (p.Gly355=) | |
| 3 | g.123319767G= | CA1398343569 | ADCY5 | c.840C= (p.Gly280=) c.1128C= (p.Gly376=) c.2163C= (p.Gly721=) n.422C= c.1113C= (p.Gly371=) c.1062C= (p.Gly354=) c.1164C= (p.Gly388=) c.1074C= (p.Gly358=) c.1065C= (p.Gly355=) | |
| 3 | g.123319767G>T | CA435293191 | ADCY5 | c.840C>A (p.Gly280=) c.1128C>A (p.Gly376=) c.2163C>A (p.Gly721=) n.422C>A c.1113C>A (p.Gly371=) c.1062C>A (p.Gly354=) c.1164C>A (p.Gly388=) c.1074C>A (p.Gly358=) c.1065C>A (p.Gly355=) | |
| 3 | g.123319768C>A | CA354217933 | ADCY5 | c.839G>T (p.Gly280Val) c.1127G>T (p.Gly376Val) c.2162G>T (p.Gly721Val) n.421G>T c.1112G>T (p.Gly371Val) c.1061G>T (p.Gly354Val) c.1163G>T (p.Gly388Val) c.1073G>T (p.Gly358Val) c.1064G>T (p.Gly355Val) |