UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 3 | g.123319768C= | CA1398343570 | ADCY5 | c.839G= (p.Gly280=) c.1127G= (p.Gly376=) c.2162G= (p.Gly721=) n.421G= c.1112G= (p.Gly371=) c.1061G= (p.Gly354=) c.1163G= (p.Gly388=) c.1073G= (p.Gly358=) c.1064G= (p.Gly355=) | |
| 3 | g.123319768C>G | CA2577223 | ADCY5 | c.839G>C (p.Gly280Ala) c.1127G>C (p.Gly376Ala) c.2162G>C (p.Gly721Ala) n.421G>C c.1112G>C (p.Gly371Ala) c.1061G>C (p.Gly354Ala) c.1163G>C (p.Gly388Ala) c.1073G>C (p.Gly358Ala) c.1064G>C (p.Gly355Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319768C>T | CA354217934 | ADCY5 | c.839G>A (p.Gly280Asp) c.1127G>A (p.Gly376Asp) c.2162G>A (p.Gly721Asp) n.421G>A c.1112G>A (p.Gly371Asp) c.1061G>A (p.Gly354Asp) c.1163G>A (p.Gly388Asp) c.1073G>A (p.Gly358Asp) c.1064G>A (p.Gly355Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123319769C>A | CA354217935 | ADCY5 | c.838G>T (p.Gly280Cys) c.1126G>T (p.Gly376Cys) c.2161G>T (p.Gly721Cys) n.420G>T c.1111G>T (p.Gly371Cys) c.1060G>T (p.Gly354Cys) c.1162G>T (p.Gly388Cys) c.1072G>T (p.Gly358Cys) c.1063G>T (p.Gly355Cys) | |
| 3 | g.123319769C>G | CA354217937 | ADCY5 | c.838G>C (p.Gly280Arg) c.1126G>C (p.Gly376Arg) c.2161G>C (p.Gly721Arg) n.420G>C c.1111G>C (p.Gly371Arg) c.1060G>C (p.Gly354Arg) c.1162G>C (p.Gly388Arg) c.1072G>C (p.Gly358Arg) c.1063G>C (p.Gly355Arg) | |
| 3 | g.123319769C>T | CA354217936 | ADCY5 | c.838G>A (p.Gly280Ser) c.1126G>A (p.Gly376Ser) c.2161G>A (p.Gly721Ser) n.420G>A c.1111G>A (p.Gly371Ser) c.1060G>A (p.Gly354Ser) c.1162G>A (p.Gly388Ser) c.1072G>A (p.Gly358Ser) c.1063G>A (p.Gly355Ser) | |
| 3 | g.123319770C>A | CA435293192 | ADCY5 | c.837G>T (p.Leu279=) c.1125G>T (p.Leu375=) c.2160G>T (p.Leu720=) n.419G>T c.1110G>T (p.Leu370=) c.1059G>T (p.Leu353=) c.1161G>T (p.Leu387=) c.1071G>T (p.Leu357=) c.1062G>T (p.Leu354=) | |
| 3 | g.123319770C>G | CA435293193 | ADCY5 | c.837G>C (p.Leu279=) c.1125G>C (p.Leu375=) c.2160G>C (p.Leu720=) n.419G>C c.1110G>C (p.Leu370=) c.1059G>C (p.Leu353=) c.1161G>C (p.Leu387=) c.1071G>C (p.Leu357=) c.1062G>C (p.Leu354=) | |
| 3 | g.123319770C>T | CA435293194 | ADCY5 | c.837G>A (p.Leu279=) c.1125G>A (p.Leu375=) c.2160G>A (p.Leu720=) n.419G>A c.1110G>A (p.Leu370=) c.1059G>A (p.Leu353=) c.1161G>A (p.Leu387=) c.1071G>A (p.Leu357=) c.1062G>A (p.Leu354=) | |
| 3 | g.123319771A>C | CA354217938 | ADCY5 | c.836T>G (p.Leu279Arg) c.1124T>G (p.Leu375Arg) c.2159T>G (p.Leu720Arg) n.418T>G c.1109T>G (p.Leu370Arg) c.1058T>G (p.Leu353Arg) c.1160T>G (p.Leu387Arg) c.1070T>G (p.Leu357Arg) c.1061T>G (p.Leu354Arg) | |
| 3 | g.123319771A>G | CA354217939 | ADCY5 | c.836T>C (p.Leu279Pro) c.1124T>C (p.Leu375Pro) c.2159T>C (p.Leu720Pro) n.418T>C c.1109T>C (p.Leu370Pro) c.1058T>C (p.Leu353Pro) c.1160T>C (p.Leu387Pro) c.1070T>C (p.Leu357Pro) c.1061T>C (p.Leu354Pro) | |
| 3 | g.123319771A>T | CA354217940 | ADCY5 | c.836T>A (p.Leu279Gln) c.1124T>A (p.Leu375Gln) c.2159T>A (p.Leu720Gln) n.418T>A c.1109T>A (p.Leu370Gln) c.1058T>A (p.Leu353Gln) c.1160T>A (p.Leu387Gln) c.1070T>A (p.Leu357Gln) c.1061T>A (p.Leu354Gln) | |
| 3 | g.123319772G>A | CA435293195 | ADCY5 | c.835C>T (p.Leu279=) c.1123C>T (p.Leu375=) c.2158C>T (p.Leu720=) n.417C>T c.1108C>T (p.Leu370=) c.1057C>T (p.Leu353=) c.1159C>T (p.Leu387=) c.1069C>T (p.Leu357=) c.1060C>T (p.Leu354=) | |
| 3 | g.123319772G>C | CA354217941 | ADCY5 | c.835C>G (p.Leu279Val) c.1123C>G (p.Leu375Val) c.2158C>G (p.Leu720Val) n.417C>G c.1108C>G (p.Leu370Val) c.1057C>G (p.Leu353Val) c.1159C>G (p.Leu387Val) c.1069C>G (p.Leu357Val) c.1060C>G (p.Leu354Val) | |
| 3 | g.123319772G>T | CA354217942 | ADCY5 | c.835C>A (p.Leu279Met) c.1123C>A (p.Leu375Met) c.2158C>A (p.Leu720Met) n.417C>A c.1108C>A (p.Leu370Met) c.1057C>A (p.Leu353Met) c.1159C>A (p.Leu387Met) c.1069C>A (p.Leu357Met) c.1060C>A (p.Leu354Met) | |
| 3 | g.123319773A>C | CA354217943 | ADCY5 | c.834T>G (p.Phe278Leu) c.1122T>G (p.Phe374Leu) c.2157T>G (p.Phe719Leu) n.416T>G c.1107T>G (p.Phe369Leu) c.1056T>G (p.Phe352Leu) c.1158T>G (p.Phe386Leu) c.1068T>G (p.Phe356Leu) c.1059T>G (p.Phe353Leu) | |
| 3 | g.123319773A>G | CA435293196 | ADCY5 | c.834T>C (p.Phe278=) c.1122T>C (p.Phe374=) c.2157T>C (p.Phe719=) n.416T>C c.1107T>C (p.Phe369=) c.1056T>C (p.Phe352=) c.1158T>C (p.Phe386=) c.1068T>C (p.Phe356=) c.1059T>C (p.Phe353=) | |
| 3 | g.123319773A>T | CA354217944 | ADCY5 | c.834T>A (p.Phe278Leu) c.1122T>A (p.Phe374Leu) c.2157T>A (p.Phe719Leu) n.416T>A c.1107T>A (p.Phe369Leu) c.1056T>A (p.Phe352Leu) c.1158T>A (p.Phe386Leu) c.1068T>A (p.Phe356Leu) c.1059T>A (p.Phe353Leu) | |
| 3 | g.123319774A>C | CA354217945 | ADCY5 | c.833T>G (p.Phe278Cys) c.1121T>G (p.Phe374Cys) c.2156T>G (p.Phe719Cys) n.415T>G c.1106T>G (p.Phe369Cys) c.1055T>G (p.Phe352Cys) c.1157T>G (p.Phe386Cys) c.1067T>G (p.Phe356Cys) c.1058T>G (p.Phe353Cys) | |
| 3 | g.123319774A>G | CA354217946 | ADCY5 | c.833T>C (p.Phe278Ser) c.1121T>C (p.Phe374Ser) c.2156T>C (p.Phe719Ser) n.415T>C c.1106T>C (p.Phe369Ser) c.1055T>C (p.Phe352Ser) c.1157T>C (p.Phe386Ser) c.1067T>C (p.Phe356Ser) c.1058T>C (p.Phe353Ser) | |
| 3 | g.123319774A>T | CA354217947 | ADCY5 | c.833T>A (p.Phe278Tyr) c.1121T>A (p.Phe374Tyr) c.2156T>A (p.Phe719Tyr) n.415T>A c.1106T>A (p.Phe369Tyr) c.1055T>A (p.Phe352Tyr) c.1157T>A (p.Phe386Tyr) c.1067T>A (p.Phe356Tyr) c.1058T>A (p.Phe353Tyr) | |
| 3 | g.123319775A>C | CA354217948 | ADCY5 | c.832T>G (p.Phe278Val) c.1120T>G (p.Phe374Val) c.2155T>G (p.Phe719Val) n.414T>G c.1105T>G (p.Phe369Val) c.1054T>G (p.Phe352Val) c.1156T>G (p.Phe386Val) c.1066T>G (p.Phe356Val) c.1057T>G (p.Phe353Val) | |
| 3 | g.123319775A>G | CA354217949 | ADCY5 | c.832T>C (p.Phe278Leu) c.1120T>C (p.Phe374Leu) c.2155T>C (p.Phe719Leu) n.414T>C c.1105T>C (p.Phe369Leu) c.1054T>C (p.Phe352Leu) c.1156T>C (p.Phe386Leu) c.1066T>C (p.Phe356Leu) c.1057T>C (p.Phe353Leu) | |
| 3 | g.123319775A>T | CA354217950 | ADCY5 | c.832T>A (p.Phe278Ile) c.1120T>A (p.Phe374Ile) c.2155T>A (p.Phe719Ile) n.414T>A c.1105T>A (p.Phe369Ile) c.1054T>A (p.Phe352Ile) c.1156T>A (p.Phe386Ile) c.1066T>A (p.Phe356Ile) c.1057T>A (p.Phe353Ile) | |
| 3 | g.123319776C>A | CA354217951 | ADCY5 | c.831G>T (p.Glu277Asp) c.1119G>T (p.Glu373Asp) c.2154G>T (p.Glu718Asp) n.413G>T c.1104G>T (p.Glu368Asp) c.1053G>T (p.Glu351Asp) c.1155G>T (p.Glu385Asp) c.1065G>T (p.Glu355Asp) c.1056G>T (p.Glu352Asp) | |
| 3 | g.123319776C= | CA1398343571 | ADCY5 | c.831G= (p.Glu277=) c.1119G= (p.Glu373=) c.2154G= (p.Glu718=) n.413G= c.1104G= (p.Glu368=) c.1053G= (p.Glu351=) c.1155G= (p.Glu385=) c.1065G= (p.Glu355=) c.1056G= (p.Glu352=) | |
| 3 | g.123319776C>G | CA354217952 | ADCY5 | c.831G>C (p.Glu277Asp) c.1119G>C (p.Glu373Asp) c.2154G>C (p.Glu718Asp) n.413G>C c.1104G>C (p.Glu368Asp) c.1053G>C (p.Glu351Asp) c.1155G>C (p.Glu385Asp) c.1065G>C (p.Glu355Asp) c.1056G>C (p.Glu352Asp) | |
| 3 | g.123319776C>T | CA435293197 | ADCY5 | c.831G>A (p.Glu277=) c.1119G>A (p.Glu373=) c.2154G>A (p.Glu718=) n.413G>A c.1104G>A (p.Glu368=) c.1053G>A (p.Glu351=) c.1155G>A (p.Glu385=) c.1065G>A (p.Glu355=) c.1056G>A (p.Glu352=) | dbSNP gnomAD v4 COSMIC |
| 3 | g.123319777T>A | CA354217953 | ADCY5 | c.830A>T (p.Glu277Val) c.1118A>T (p.Glu373Val) c.2153A>T (p.Glu718Val) n.412A>T c.1103A>T (p.Glu368Val) c.1052A>T (p.Glu351Val) c.1154A>T (p.Glu385Val) c.1064A>T (p.Glu355Val) c.1055A>T (p.Glu352Val) | |
| 3 | g.123319777T>C | CA354217954 | ADCY5 | c.830A>G (p.Glu277Gly) c.1118A>G (p.Glu373Gly) c.2153A>G (p.Glu718Gly) n.412A>G c.1103A>G (p.Glu368Gly) c.1052A>G (p.Glu351Gly) c.1154A>G (p.Glu385Gly) c.1064A>G (p.Glu355Gly) c.1055A>G (p.Glu352Gly) | |
| 3 | g.123319777T>G | CA354217955 | ADCY5 | c.830A>C (p.Glu277Ala) c.1118A>C (p.Glu373Ala) c.2153A>C (p.Glu718Ala) n.412A>C c.1103A>C (p.Glu368Ala) c.1052A>C (p.Glu351Ala) c.1154A>C (p.Glu385Ala) c.1064A>C (p.Glu355Ala) c.1055A>C (p.Glu352Ala) | |
| 3 | g.123319778C>A | CA354217956 | ADCY5 | c.829G>T (p.Glu277Ter) c.1117G>T (p.Glu373Ter) c.2152G>T (p.Glu718Ter) n.411G>T c.1102G>T (p.Glu368Ter) c.1051G>T (p.Glu351Ter) c.1153G>T (p.Glu385Ter) c.1063G>T (p.Glu355Ter) c.1054G>T (p.Glu352Ter) | dbSNP |
| 3 | g.123319778C= | CA1398343572 | ADCY5 | c.829G= (p.Glu277=) c.1117G= (p.Glu373=) c.2152G= (p.Glu718=) n.411G= c.1102G= (p.Glu368=) c.1051G= (p.Glu351=) c.1153G= (p.Glu385=) c.1063G= (p.Glu355=) c.1054G= (p.Glu352=) | |
| 3 | g.123319778C>G | CA354217957 | ADCY5 | c.829G>C (p.Glu277Gln) c.1117G>C (p.Glu373Gln) c.2152G>C (p.Glu718Gln) n.411G>C c.1102G>C (p.Glu368Gln) c.1051G>C (p.Glu351Gln) c.1153G>C (p.Glu385Gln) c.1063G>C (p.Glu355Gln) c.1054G>C (p.Glu352Gln) | |
| 3 | g.123319778C>T | CA354217958 | ADCY5 | c.829G>A (p.Glu277Lys) c.1117G>A (p.Glu373Lys) c.2152G>A (p.Glu718Lys) n.411G>A c.1102G>A (p.Glu368Lys) c.1051G>A (p.Glu351Lys) c.1153G>A (p.Glu385Lys) c.1063G>A (p.Glu355Lys) c.1054G>A (p.Glu352Lys) | |
| 3 | g.123319779A>C | CA354217959 | ADCY5 | c.828T>G (p.Asp276Glu) c.1116T>G (p.Asp372Glu) c.2151T>G (p.Asp717Glu) n.410T>G c.1101T>G (p.Asp367Glu) c.1050T>G (p.Asp350Glu) c.1152T>G (p.Asp384Glu) c.1062T>G (p.Asp354Glu) c.1053T>G (p.Asp351Glu) | gnomAD v4 |
| 3 | g.123319779A>G | CA435293198 | ADCY5 | c.828T>C (p.Asp276=) c.1116T>C (p.Asp372=) c.2151T>C (p.Asp717=) n.410T>C c.1101T>C (p.Asp367=) c.1050T>C (p.Asp350=) c.1152T>C (p.Asp384=) c.1062T>C (p.Asp354=) c.1053T>C (p.Asp351=) | |
| 3 | g.123319779A>T | CA354217960 | ADCY5 | c.828T>A (p.Asp276Glu) c.1116T>A (p.Asp372Glu) c.2151T>A (p.Asp717Glu) n.410T>A c.1101T>A (p.Asp367Glu) c.1050T>A (p.Asp350Glu) c.1152T>A (p.Asp384Glu) c.1062T>A (p.Asp354Glu) c.1053T>A (p.Asp351Glu) | |
| 3 | g.123319780T>A | CA354217961 | ADCY5 | c.827A>T (p.Asp276Val) c.1115A>T (p.Asp372Val) c.2150A>T (p.Asp717Val) n.409A>T c.1100A>T (p.Asp367Val) c.1049A>T (p.Asp350Val) c.1151A>T (p.Asp384Val) c.1061A>T (p.Asp354Val) c.1052A>T (p.Asp351Val) | gnomAD v4 |
| 3 | g.123319780T>C | CA354217962 | ADCY5 | c.827A>G (p.Asp276Gly) c.1115A>G (p.Asp372Gly) c.2150A>G (p.Asp717Gly) n.409A>G c.1100A>G (p.Asp367Gly) c.1049A>G (p.Asp350Gly) c.1151A>G (p.Asp384Gly) c.1061A>G (p.Asp354Gly) c.1052A>G (p.Asp351Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319780T>G | CA354217963 | ADCY5 | c.827A>C (p.Asp276Ala) c.1115A>C (p.Asp372Ala) c.2150A>C (p.Asp717Ala) n.409A>C c.1100A>C (p.Asp367Ala) c.1049A>C (p.Asp350Ala) c.1151A>C (p.Asp384Ala) c.1061A>C (p.Asp354Ala) c.1052A>C (p.Asp351Ala) | |
| 3 | g.123319780T= | CA1398343573 | ADCY5 | c.827A= (p.Asp276=) c.1115A= (p.Asp372=) c.2150A= (p.Asp717=) n.409A= c.1100A= (p.Asp367=) c.1049A= (p.Asp350=) c.1151A= (p.Asp384=) c.1061A= (p.Asp354=) c.1052A= (p.Asp351=) | |
| 3 | g.123319781C>A | CA354217966 | ADCY5 | c.826G>T (p.Asp276Tyr) c.1114G>T (p.Asp372Tyr) c.2149G>T (p.Asp717Tyr) n.408G>T c.1099G>T (p.Asp367Tyr) c.1048G>T (p.Asp350Tyr) c.1150G>T (p.Asp384Tyr) c.1060G>T (p.Asp354Tyr) c.1051G>T (p.Asp351Tyr) | |
| 3 | g.123319781C= | CA1398343574 | ADCY5 | c.826G= (p.Asp276=) c.1114G= (p.Asp372=) c.2149G= (p.Asp717=) n.408G= c.1099G= (p.Asp367=) c.1048G= (p.Asp350=) c.1150G= (p.Asp384=) c.1060G= (p.Asp354=) c.1051G= (p.Asp351=) | |
| 3 | g.123319781C>G | CA354217965 | ADCY5 | c.826G>C (p.Asp276His) c.1114G>C (p.Asp372His) c.2149G>C (p.Asp717His) n.408G>C c.1099G>C (p.Asp367His) c.1048G>C (p.Asp350His) c.1150G>C (p.Asp384His) c.1060G>C (p.Asp354His) c.1051G>C (p.Asp351His) | |
| 3 | g.123319781C>T | CA354217964 | ADCY5 | c.826G>A (p.Asp276Asn) c.1114G>A (p.Asp372Asn) c.2149G>A (p.Asp717Asn) n.408G>A c.1099G>A (p.Asp367Asn) c.1048G>A (p.Asp350Asn) c.1150G>A (p.Asp384Asn) c.1060G>A (p.Asp354Asn) c.1051G>A (p.Asp351Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123319782C>A | CA435293199 | ADCY5 | c.825G>T (p.Val275=) c.1113G>T (p.Val371=) c.2148G>T (p.Val716=) n.407G>T c.1098G>T (p.Val366=) c.1047G>T (p.Val349=) c.1149G>T (p.Val383=) c.1059G>T (p.Val353=) c.1050G>T (p.Val350=) | |
| 3 | g.123319782C>G | CA435293200 | ADCY5 | c.825G>C (p.Val275=) c.1113G>C (p.Val371=) c.2148G>C (p.Val716=) n.407G>C c.1098G>C (p.Val366=) c.1047G>C (p.Val349=) c.1149G>C (p.Val383=) c.1059G>C (p.Val353=) c.1050G>C (p.Val350=) | |
| 3 | g.123319782C>T | CA435293201 | ADCY5 | c.825G>A (p.Val275=) c.1113G>A (p.Val371=) c.2148G>A (p.Val716=) n.407G>A c.1098G>A (p.Val366=) c.1047G>A (p.Val349=) c.1149G>A (p.Val383=) c.1059G>A (p.Val353=) c.1050G>A (p.Val350=) | |
| 3 | g.123319783A>C | CA354217967 | ADCY5 | c.824T>G (p.Val275Gly) c.1112T>G (p.Val371Gly) c.2147T>G (p.Val716Gly) n.406T>G c.1097T>G (p.Val366Gly) c.1046T>G (p.Val349Gly) c.1148T>G (p.Val383Gly) c.1058T>G (p.Val353Gly) c.1049T>G (p.Val350Gly) | |
| 3 | g.123319783A>G | CA354217968 | ADCY5 | c.824T>C (p.Val275Ala) c.1112T>C (p.Val371Ala) c.2147T>C (p.Val716Ala) n.406T>C c.1097T>C (p.Val366Ala) c.1046T>C (p.Val349Ala) c.1148T>C (p.Val383Ala) c.1058T>C (p.Val353Ala) c.1049T>C (p.Val350Ala) | dbSNP |
| 3 | g.123319783A>T | CA354217969 | ADCY5 | c.824T>A (p.Val275Glu) c.1112T>A (p.Val371Glu) c.2147T>A (p.Val716Glu) n.406T>A c.1097T>A (p.Val366Glu) c.1046T>A (p.Val349Glu) c.1148T>A (p.Val383Glu) c.1058T>A (p.Val353Glu) c.1049T>A (p.Val350Glu) | |
| 3 | g.123319784C>A | CA354217970 | ADCY5 | c.823G>T (p.Val275Leu) c.1111G>T (p.Val371Leu) c.2146G>T (p.Val716Leu) n.405G>T c.1096G>T (p.Val366Leu) c.1045G>T (p.Val349Leu) c.1147G>T (p.Val383Leu) c.1057G>T (p.Val353Leu) c.1048G>T (p.Val350Leu) | |
| 3 | g.123319784C>G | CA354217971 | ADCY5 | c.823G>C (p.Val275Leu) c.1111G>C (p.Val371Leu) c.2146G>C (p.Val716Leu) n.405G>C c.1096G>C (p.Val366Leu) c.1045G>C (p.Val349Leu) c.1147G>C (p.Val383Leu) c.1057G>C (p.Val353Leu) c.1048G>C (p.Val350Leu) | |
| 3 | g.123319784C>T | CA354217972 | ADCY5 | c.823G>A (p.Val275Met) c.1111G>A (p.Val371Met) c.2146G>A (p.Val716Met) n.405G>A c.1096G>A (p.Val366Met) c.1045G>A (p.Val349Met) c.1147G>A (p.Val383Met) c.1057G>A (p.Val353Met) c.1048G>A (p.Val350Met) | |
| 3 | g.123319785T>A | CA354217973 | ADCY5 | c.822A>T (p.Glu274Asp) c.1110A>T (p.Glu370Asp) c.2145A>T (p.Glu715Asp) n.404A>T c.1095A>T (p.Glu365Asp) c.1044A>T (p.Glu348Asp) c.1146A>T (p.Glu382Asp) c.1056A>T (p.Glu352Asp) c.1047A>T (p.Glu349Asp) | |
| 3 | g.123319785T>C | CA2577224 | ADCY5 | c.822A>G (p.Glu274=) c.1110A>G (p.Glu370=) c.2145A>G (p.Glu715=) n.404A>G c.1095A>G (p.Glu365=) c.1044A>G (p.Glu348=) c.1146A>G (p.Glu382=) c.1056A>G (p.Glu352=) c.1047A>G (p.Glu349=) | dbSNP ExAC gnomAD v2 |
| 3 | g.123319785T>G | CA354217974 | ADCY5 | c.822A>C (p.Glu274Asp) c.1110A>C (p.Glu370Asp) c.2145A>C (p.Glu715Asp) n.404A>C c.1095A>C (p.Glu365Asp) c.1044A>C (p.Glu348Asp) c.1146A>C (p.Glu382Asp) c.1056A>C (p.Glu352Asp) c.1047A>C (p.Glu349Asp) | ClinVar |
| 3 | g.123319785T= | CA1398343575 | ADCY5 | c.822A= (p.Glu274=) c.1110A= (p.Glu370=) c.2145A= (p.Glu715=) n.404A= c.1095A= (p.Glu365=) c.1044A= (p.Glu348=) c.1146A= (p.Glu382=) c.1056A= (p.Glu352=) c.1047A= (p.Glu349=) | |
| 3 | g.123319786T>A | CA354217975 | ADCY5 | c.821A>T (p.Glu274Val) c.1109A>T (p.Glu370Val) c.2144A>T (p.Glu715Val) n.403A>T c.1094A>T (p.Glu365Val) c.1043A>T (p.Glu348Val) c.1145A>T (p.Glu382Val) c.1055A>T (p.Glu352Val) c.1046A>T (p.Glu349Val) | |
| 3 | g.123319786T>C | CA354217976 | ADCY5 | c.821A>G (p.Glu274Gly) c.1109A>G (p.Glu370Gly) c.2144A>G (p.Glu715Gly) n.403A>G c.1094A>G (p.Glu365Gly) c.1043A>G (p.Glu348Gly) c.1145A>G (p.Glu382Gly) c.1055A>G (p.Glu352Gly) c.1046A>G (p.Glu349Gly) | |
| 3 | g.123319786T>G | CA354217977 | ADCY5 | c.821A>C (p.Glu274Ala) c.1109A>C (p.Glu370Ala) c.2144A>C (p.Glu715Ala) n.403A>C c.1094A>C (p.Glu365Ala) c.1043A>C (p.Glu348Ala) c.1145A>C (p.Glu382Ala) c.1055A>C (p.Glu352Ala) c.1046A>C (p.Glu349Ala) | |
| 3 | g.123319787C>A | CA354217980 | ADCY5 | c.820G>T (p.Glu274Ter) c.1108G>T (p.Glu370Ter) c.2143G>T (p.Glu715Ter) n.402G>T c.1093G>T (p.Glu365Ter) c.1042G>T (p.Glu348Ter) c.1144G>T (p.Glu382Ter) c.1054G>T (p.Glu352Ter) c.1045G>T (p.Glu349Ter) | dbSNP |
| 3 | g.123319787C= | CA1398343576 | ADCY5 | c.820G= (p.Glu274=) c.1108G= (p.Glu370=) c.2143G= (p.Glu715=) n.402G= c.1093G= (p.Glu365=) c.1042G= (p.Glu348=) c.1144G= (p.Glu382=) c.1054G= (p.Glu352=) c.1045G= (p.Glu349=) | |
| 3 | g.123319787C>G | CA354217979 | ADCY5 | c.820G>C (p.Glu274Gln) c.1108G>C (p.Glu370Gln) c.2143G>C (p.Glu715Gln) n.402G>C c.1093G>C (p.Glu365Gln) c.1042G>C (p.Glu348Gln) c.1144G>C (p.Glu382Gln) c.1054G>C (p.Glu352Gln) c.1045G>C (p.Glu349Gln) | |
| 3 | g.123319787C>T | CA354217978 | ADCY5 | c.820G>A (p.Glu274Lys) c.1108G>A (p.Glu370Lys) c.2143G>A (p.Glu715Lys) n.402G>A c.1093G>A (p.Glu365Lys) c.1042G>A (p.Glu348Lys) c.1144G>A (p.Glu382Lys) c.1054G>A (p.Glu352Lys) c.1045G>A (p.Glu349Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.123319788A>C | CA354217981 | ADCY5 | c.819T>G (p.Asp273Glu) c.1107T>G (p.Asp369Glu) c.2142T>G (p.Asp714Glu) n.401T>G c.1092T>G (p.Asp364Glu) c.1041T>G (p.Asp347Glu) c.1143T>G (p.Asp381Glu) c.1053T>G (p.Asp351Glu) c.1044T>G (p.Asp348Glu) | |
| 3 | g.123319788A>G | CA435293202 | ADCY5 | c.819T>C (p.Asp273=) c.1107T>C (p.Asp369=) c.2142T>C (p.Asp714=) n.401T>C c.1092T>C (p.Asp364=) c.1041T>C (p.Asp347=) c.1143T>C (p.Asp381=) c.1053T>C (p.Asp351=) c.1044T>C (p.Asp348=) | |
| 3 | g.123319788A>T | CA354217982 | ADCY5 | c.819T>A (p.Asp273Glu) c.1107T>A (p.Asp369Glu) c.2142T>A (p.Asp714Glu) n.401T>A c.1092T>A (p.Asp364Glu) c.1041T>A (p.Asp347Glu) c.1143T>A (p.Asp381Glu) c.1053T>A (p.Asp351Glu) c.1044T>A (p.Asp348Glu) | |
| 3 | g.123319789T>A | CA354217983 | ADCY5 | c.818A>T (p.Asp273Val) c.1106A>T (p.Asp369Val) c.2141A>T (p.Asp714Val) n.400A>T c.1091A>T (p.Asp364Val) c.1040A>T (p.Asp347Val) c.1142A>T (p.Asp381Val) c.1052A>T (p.Asp351Val) c.1043A>T (p.Asp348Val) | |
| 3 | g.123319789T>C | CA354217984 | ADCY5 | c.818A>G (p.Asp273Gly) c.1106A>G (p.Asp369Gly) c.2141A>G (p.Asp714Gly) n.400A>G c.1091A>G (p.Asp364Gly) c.1040A>G (p.Asp347Gly) c.1142A>G (p.Asp381Gly) c.1052A>G (p.Asp351Gly) c.1043A>G (p.Asp348Gly) | |
| 3 | g.123319789T>G | CA354217985 | ADCY5 | c.818A>C (p.Asp273Ala) c.1106A>C (p.Asp369Ala) c.2141A>C (p.Asp714Ala) n.400A>C c.1091A>C (p.Asp364Ala) c.1040A>C (p.Asp347Ala) c.1142A>C (p.Asp381Ala) c.1052A>C (p.Asp351Ala) c.1043A>C (p.Asp348Ala) | |
| 3 | g.123319790C>A | CA354217986 | ADCY5 | c.817G>T (p.Asp273Tyr) c.1105G>T (p.Asp369Tyr) c.2140G>T (p.Asp714Tyr) n.399G>T c.1090G>T (p.Asp364Tyr) c.1039G>T (p.Asp347Tyr) c.1141G>T (p.Asp381Tyr) c.1051G>T (p.Asp351Tyr) c.1042G>T (p.Asp348Tyr) | |
| 3 | g.123319790C>G | CA354217987 | ADCY5 | c.817G>C (p.Asp273His) c.1105G>C (p.Asp369His) c.2140G>C (p.Asp714His) n.399G>C c.1090G>C (p.Asp364His) c.1039G>C (p.Asp347His) c.1141G>C (p.Asp381His) c.1051G>C (p.Asp351His) c.1042G>C (p.Asp348His) | |
| 3 | g.123319790C>T | CA354217988 | ADCY5 | c.817G>A (p.Asp273Asn) c.1105G>A (p.Asp369Asn) c.2140G>A (p.Asp714Asn) n.399G>A c.1090G>A (p.Asp364Asn) c.1039G>A (p.Asp347Asn) c.1141G>A (p.Asp381Asn) c.1051G>A (p.Asp351Asn) c.1042G>A (p.Asp348Asn) | |
| 3 | g.123319791C>A | CA354217989 | ADCY5 | c.816G>T (p.Glu272Asp) c.1104G>T (p.Glu368Asp) c.2139G>T (p.Glu713Asp) n.398G>T c.1089G>T (p.Glu363Asp) c.1038G>T (p.Glu346Asp) c.1140G>T (p.Glu380Asp) c.1050G>T (p.Glu350Asp) c.1041G>T (p.Glu347Asp) | |
| 3 | g.123319791C>G | CA354217990 | ADCY5 | c.816G>C (p.Glu272Asp) c.1104G>C (p.Glu368Asp) c.2139G>C (p.Glu713Asp) n.398G>C c.1089G>C (p.Glu363Asp) c.1038G>C (p.Glu346Asp) c.1140G>C (p.Glu380Asp) c.1050G>C (p.Glu350Asp) c.1041G>C (p.Glu347Asp) | |
| 3 | g.123319791C>T | CA435293203 | ADCY5 | c.816G>A (p.Glu272=) c.1104G>A (p.Glu368=) c.2139G>A (p.Glu713=) n.398G>A c.1089G>A (p.Glu363=) c.1038G>A (p.Glu346=) c.1140G>A (p.Glu380=) c.1050G>A (p.Glu350=) c.1041G>A (p.Glu347=) | gnomAD v4 |
| 3 | g.123319792T>A | CA354217991 | ADCY5 | c.815A>T (p.Glu272Val) c.1103A>T (p.Glu368Val) c.2138A>T (p.Glu713Val) n.397A>T c.1088A>T (p.Glu363Val) c.1037A>T (p.Glu346Val) c.1139A>T (p.Glu380Val) c.1049A>T (p.Glu350Val) c.1040A>T (p.Glu347Val) | |
| 3 | g.123319792T>C | CA354217992 | ADCY5 | c.815A>G (p.Glu272Gly) c.1103A>G (p.Glu368Gly) c.2138A>G (p.Glu713Gly) n.397A>G c.1088A>G (p.Glu363Gly) c.1037A>G (p.Glu346Gly) c.1139A>G (p.Glu380Gly) c.1049A>G (p.Glu350Gly) c.1040A>G (p.Glu347Gly) | |
| 3 | g.123319792T>G | CA354217993 | ADCY5 | c.815A>C (p.Glu272Ala) c.1103A>C (p.Glu368Ala) c.2138A>C (p.Glu713Ala) n.397A>C c.1088A>C (p.Glu363Ala) c.1037A>C (p.Glu346Ala) c.1139A>C (p.Glu380Ala) c.1049A>C (p.Glu350Ala) c.1040A>C (p.Glu347Ala) | |
| 3 | g.123319793C>A | CA354217996 | ADCY5 | c.814G>T (p.Glu272Ter) c.1102G>T (p.Glu368Ter) c.2137G>T (p.Glu713Ter) n.396G>T c.1087G>T (p.Glu363Ter) c.1036G>T (p.Glu346Ter) c.1138G>T (p.Glu380Ter) c.1048G>T (p.Glu350Ter) c.1039G>T (p.Glu347Ter) | |
| 3 | g.123319793C= | CA1398343577 | ADCY5 | c.814G= (p.Glu272=) c.1102G= (p.Glu368=) c.2137G= (p.Glu713=) n.396G= c.1087G= (p.Glu363=) c.1036G= (p.Glu346=) c.1138G= (p.Glu380=) c.1048G= (p.Glu350=) c.1039G= (p.Glu347=) | |
| 3 | g.123319793C>G | CA354217995 | ADCY5 | c.814G>C (p.Glu272Gln) c.1102G>C (p.Glu368Gln) c.2137G>C (p.Glu713Gln) n.396G>C c.1087G>C (p.Glu363Gln) c.1036G>C (p.Glu346Gln) c.1138G>C (p.Glu380Gln) c.1048G>C (p.Glu350Gln) c.1039G>C (p.Glu347Gln) | dbSNP |
| 3 | g.123319793C>T | CA354217994 | ADCY5 | c.814G>A (p.Glu272Lys) c.1102G>A (p.Glu368Lys) c.2137G>A (p.Glu713Lys) n.396G>A c.1087G>A (p.Glu363Lys) c.1036G>A (p.Glu346Lys) c.1138G>A (p.Glu380Lys) c.1048G>A (p.Glu350Lys) c.1039G>A (p.Glu347Lys) | |
| 3 | g.123319794A= | CA1398343578 | ADCY5 | c.813T= (p.Pro271=) c.1101T= (p.Pro367=) c.2136T= (p.Pro712=) n.395T= c.1086T= (p.Pro362=) c.1035T= (p.Pro345=) c.1137T= (p.Pro379=) c.1047T= (p.Pro349=) c.1038T= (p.Pro346=) | |
| 3 | g.123319794A>C | CA435293206 | ADCY5 | c.813T>G (p.Pro271=) c.1101T>G (p.Pro367=) c.2136T>G (p.Pro712=) n.395T>G c.1086T>G (p.Pro362=) c.1035T>G (p.Pro345=) c.1137T>G (p.Pro379=) c.1047T>G (p.Pro349=) c.1038T>G (p.Pro346=) | |
| 3 | g.123319794A>G | CA435293205 | ADCY5 | c.813T>C (p.Pro271=) c.1101T>C (p.Pro367=) c.2136T>C (p.Pro712=) n.395T>C c.1086T>C (p.Pro362=) c.1035T>C (p.Pro345=) c.1137T>C (p.Pro379=) c.1047T>C (p.Pro349=) c.1038T>C (p.Pro346=) | gnomAD v4 |
| 3 | g.123319794A>T | CA435293204 | ADCY5 | c.813T>A (p.Pro271=) c.1101T>A (p.Pro367=) c.2136T>A (p.Pro712=) n.395T>A c.1086T>A (p.Pro362=) c.1035T>A (p.Pro345=) c.1137T>A (p.Pro379=) c.1047T>A (p.Pro349=) c.1038T>A (p.Pro346=) | dbSNP |
| 3 | g.123319795G>A | CA354217999 | ADCY5 | c.812C>T (p.Pro271Leu) c.1100C>T (p.Pro367Leu) c.2135C>T (p.Pro712Leu) n.394C>T c.1085C>T (p.Pro362Leu) c.1034C>T (p.Pro345Leu) c.1136C>T (p.Pro379Leu) c.1046C>T (p.Pro349Leu) c.1037C>T (p.Pro346Leu) | |
| 3 | g.123319795G>C | CA354217997 | ADCY5 | c.812C>G (p.Pro271Arg) c.1100C>G (p.Pro367Arg) c.2135C>G (p.Pro712Arg) n.394C>G c.1085C>G (p.Pro362Arg) c.1034C>G (p.Pro345Arg) c.1136C>G (p.Pro379Arg) c.1046C>G (p.Pro349Arg) c.1037C>G (p.Pro346Arg) | |
| 3 | g.123319795G>T | CA354217998 | ADCY5 | c.812C>A (p.Pro271His) c.1100C>A (p.Pro367His) c.2135C>A (p.Pro712His) n.394C>A c.1085C>A (p.Pro362His) c.1034C>A (p.Pro345His) c.1136C>A (p.Pro379His) c.1046C>A (p.Pro349His) c.1037C>A (p.Pro346His) | |
| 3 | g.123319796G>A | CA2577225 | ADCY5 | c.811C>T (p.Pro271Ser) c.1099C>T (p.Pro367Ser) c.2134C>T (p.Pro712Ser) n.393C>T c.1084C>T (p.Pro362Ser) c.1033C>T (p.Pro345Ser) c.1135C>T (p.Pro379Ser) c.1045C>T (p.Pro349Ser) c.1036C>T (p.Pro346Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319796G>C | CA354218000 | ADCY5 | c.811C>G (p.Pro271Ala) c.1099C>G (p.Pro367Ala) c.2134C>G (p.Pro712Ala) n.393C>G c.1084C>G (p.Pro362Ala) c.1033C>G (p.Pro345Ala) c.1135C>G (p.Pro379Ala) c.1045C>G (p.Pro349Ala) c.1036C>G (p.Pro346Ala) | gnomAD v4 |
| 3 | g.123319796G= | CA1398343579 | ADCY5 | c.811C= (p.Pro271=) c.1099C= (p.Pro367=) c.2134C= (p.Pro712=) n.393C= c.1084C= (p.Pro362=) c.1033C= (p.Pro345=) c.1135C= (p.Pro379=) c.1045C= (p.Pro349=) c.1036C= (p.Pro346=) | |
| 3 | g.123319796G>T | CA2577226 | ADCY5 | c.811C>A (p.Pro271Thr) c.1099C>A (p.Pro367Thr) c.2134C>A (p.Pro712Thr) n.393C>A c.1084C>A (p.Pro362Thr) c.1033C>A (p.Pro345Thr) c.1135C>A (p.Pro379Thr) c.1045C>A (p.Pro349Thr) c.1036C>A (p.Pro346Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319797G>A | CA435293207 | ADCY5 | c.810C>T (p.Asn270=) c.1098C>T (p.Asn366=) c.2133C>T (p.Asn711=) n.392C>T c.1083C>T (p.Asn361=) c.1032C>T (p.Asn344=) c.1134C>T (p.Asn378=) c.1044C>T (p.Asn348=) c.1035C>T (p.Asn345=) | |
| 3 | g.123319797G>C | CA354218001 | ADCY5 | c.810C>G (p.Asn270Lys) c.1098C>G (p.Asn366Lys) c.2133C>G (p.Asn711Lys) n.392C>G c.1083C>G (p.Asn361Lys) c.1032C>G (p.Asn344Lys) c.1134C>G (p.Asn378Lys) c.1044C>G (p.Asn348Lys) c.1035C>G (p.Asn345Lys) | |
| 3 | g.123319797G>T | CA354218002 | ADCY5 | c.810C>A (p.Asn270Lys) c.1098C>A (p.Asn366Lys) c.2133C>A (p.Asn711Lys) n.392C>A c.1083C>A (p.Asn361Lys) c.1032C>A (p.Asn344Lys) c.1134C>A (p.Asn378Lys) c.1044C>A (p.Asn348Lys) c.1035C>A (p.Asn345Lys) | gnomAD v4 |
| 3 | g.123319798T>A | CA354218003 | ADCY5 | c.809A>T (p.Asn270Ile) c.1097A>T (p.Asn366Ile) c.2132A>T (p.Asn711Ile) n.391A>T c.1082A>T (p.Asn361Ile) c.1031A>T (p.Asn344Ile) c.1133A>T (p.Asn378Ile) c.1043A>T (p.Asn348Ile) c.1034A>T (p.Asn345Ile) | |
| 3 | g.123319798T>C | CA354218005 | ADCY5 | c.809A>G (p.Asn270Ser) c.1097A>G (p.Asn366Ser) c.2132A>G (p.Asn711Ser) n.391A>G c.1082A>G (p.Asn361Ser) c.1031A>G (p.Asn344Ser) c.1133A>G (p.Asn378Ser) c.1043A>G (p.Asn348Ser) c.1034A>G (p.Asn345Ser) | |
| 3 | g.123319798T>G | CA354218004 | ADCY5 | c.809A>C (p.Asn270Thr) c.1097A>C (p.Asn366Thr) c.2132A>C (p.Asn711Thr) n.391A>C c.1082A>C (p.Asn361Thr) c.1031A>C (p.Asn344Thr) c.1133A>C (p.Asn378Thr) c.1043A>C (p.Asn348Thr) c.1034A>C (p.Asn345Thr) | |
| 3 | g.123319799T>A | CA354218006 | ADCY5 | c.808A>T (p.Asn270Tyr) c.1096A>T (p.Asn366Tyr) c.2131A>T (p.Asn711Tyr) n.390A>T c.1081A>T (p.Asn361Tyr) c.1030A>T (p.Asn344Tyr) c.1132A>T (p.Asn378Tyr) c.1042A>T (p.Asn348Tyr) c.1033A>T (p.Asn345Tyr) | |
| 3 | g.123319799T>C | CA354218007 | ADCY5 | c.808A>G (p.Asn270Asp) c.1096A>G (p.Asn366Asp) c.2131A>G (p.Asn711Asp) n.390A>G c.1081A>G (p.Asn361Asp) c.1030A>G (p.Asn344Asp) c.1132A>G (p.Asn378Asp) c.1042A>G (p.Asn348Asp) c.1033A>G (p.Asn345Asp) | |
| 3 | g.123319799T>G | CA354218008 | ADCY5 | c.808A>C (p.Asn270His) c.1096A>C (p.Asn366His) c.2131A>C (p.Asn711His) n.390A>C c.1081A>C (p.Asn361His) c.1030A>C (p.Asn344His) c.1132A>C (p.Asn378His) c.1042A>C (p.Asn348His) c.1033A>C (p.Asn345His) | |
| 3 | g.123319800C>A | CA435293208 | ADCY5 | c.807G>T (p.Ala269=) c.1095G>T (p.Ala365=) c.2130G>T (p.Ala710=) n.389G>T c.1080G>T (p.Ala360=) c.1029G>T (p.Ala343=) c.1131G>T (p.Ala377=) c.1041G>T (p.Ala347=) c.1032G>T (p.Ala344=) | |
| 3 | g.123319800C= | CA1398343580 | ADCY5 | c.807G= (p.Ala269=) c.1095G= (p.Ala365=) c.2130G= (p.Ala710=) n.389G= c.1080G= (p.Ala360=) c.1029G= (p.Ala343=) c.1131G= (p.Ala377=) c.1041G= (p.Ala347=) c.1032G= (p.Ala344=) | |
| 3 | g.123319800C>G | CA435293209 | ADCY5 | c.807G>C (p.Ala269=) c.1095G>C (p.Ala365=) c.2130G>C (p.Ala710=) n.389G>C c.1080G>C (p.Ala360=) c.1029G>C (p.Ala343=) c.1131G>C (p.Ala377=) c.1041G>C (p.Ala347=) c.1032G>C (p.Ala344=) | |
| 3 | g.123319800C>T | CA2577227 | ADCY5 | c.807G>A (p.Ala269=) c.1095G>A (p.Ala365=) c.2130G>A (p.Ala710=) n.389G>A c.1080G>A (p.Ala360=) c.1029G>A (p.Ala343=) c.1131G>A (p.Ala377=) c.1041G>A (p.Ala347=) c.1032G>A (p.Ala344=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319801G>A | CA2577228 | ADCY5 | c.806C>T (p.Ala269Val) c.1094C>T (p.Ala365Val) c.2129C>T (p.Ala710Val) n.388C>T c.1079C>T (p.Ala360Val) c.1028C>T (p.Ala343Val) c.1130C>T (p.Ala377Val) c.1040C>T (p.Ala347Val) c.1031C>T (p.Ala344Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319801G>C | CA354218009 | ADCY5 | c.806C>G (p.Ala269Gly) c.1094C>G (p.Ala365Gly) c.2129C>G (p.Ala710Gly) n.388C>G c.1079C>G (p.Ala360Gly) c.1028C>G (p.Ala343Gly) c.1130C>G (p.Ala377Gly) c.1040C>G (p.Ala347Gly) c.1031C>G (p.Ala344Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123319801G= | CA1398343581 | ADCY5 | c.806C= (p.Ala269=) c.1094C= (p.Ala365=) c.2129C= (p.Ala710=) n.388C= c.1079C= (p.Ala360=) c.1028C= (p.Ala343=) c.1130C= (p.Ala377=) c.1040C= (p.Ala347=) c.1031C= (p.Ala344=) | |
| 3 | g.123319801G>T | CA354218010 | ADCY5 | c.806C>A (p.Ala269Glu) c.1094C>A (p.Ala365Glu) c.2129C>A (p.Ala710Glu) n.388C>A c.1079C>A (p.Ala360Glu) c.1028C>A (p.Ala343Glu) c.1130C>A (p.Ala377Glu) c.1040C>A (p.Ala347Glu) c.1031C>A (p.Ala344Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319802C>A | CA354218011 | ADCY5 | c.805G>T (p.Ala269Ser) c.1093G>T (p.Ala365Ser) c.2128G>T (p.Ala710Ser) n.387G>T c.1078G>T (p.Ala360Ser) c.1027G>T (p.Ala343Ser) c.1129G>T (p.Ala377Ser) c.1039G>T (p.Ala347Ser) c.1030G>T (p.Ala344Ser) | |
| 3 | g.123319802C>G | CA354218012 | ADCY5 | c.805G>C (p.Ala269Pro) c.1093G>C (p.Ala365Pro) c.2128G>C (p.Ala710Pro) n.387G>C c.1078G>C (p.Ala360Pro) c.1027G>C (p.Ala343Pro) c.1129G>C (p.Ala377Pro) c.1039G>C (p.Ala347Pro) c.1030G>C (p.Ala344Pro) | |
| 3 | g.123319802C>T | CA354218013 | ADCY5 | c.805G>A (p.Ala269Thr) c.1093G>A (p.Ala365Thr) c.2128G>A (p.Ala710Thr) n.387G>A c.1078G>A (p.Ala360Thr) c.1027G>A (p.Ala343Thr) c.1129G>A (p.Ala377Thr) c.1039G>A (p.Ala347Thr) c.1030G>A (p.Ala344Thr) | gnomAD v4 |
| 3 | g.123319803A>C | CA354218014 | ADCY5 | c.804T>G (p.Ser268Arg) c.1092T>G (p.Ser364Arg) c.2127T>G (p.Ser709Arg) n.386T>G c.1077T>G (p.Ser359Arg) c.1026T>G (p.Ser342Arg) c.1128T>G (p.Ser376Arg) c.1038T>G (p.Ser346Arg) c.1029T>G (p.Ser343Arg) | |
| 3 | g.123319803A>G | CA435293210 | ADCY5 | c.804T>C (p.Ser268=) c.1092T>C (p.Ser364=) c.2127T>C (p.Ser709=) n.386T>C c.1077T>C (p.Ser359=) c.1026T>C (p.Ser342=) c.1128T>C (p.Ser376=) c.1038T>C (p.Ser346=) c.1029T>C (p.Ser343=) | gnomAD v4 |
| 3 | g.123319803A>T | CA354218015 | ADCY5 | c.804T>A (p.Ser268Arg) c.1092T>A (p.Ser364Arg) c.2127T>A (p.Ser709Arg) n.386T>A c.1077T>A (p.Ser359Arg) c.1026T>A (p.Ser342Arg) c.1128T>A (p.Ser376Arg) c.1038T>A (p.Ser346Arg) c.1029T>A (p.Ser343Arg) | |
| 3 | g.123319804C>A | CA354218016 | ADCY5 | c.803G>T (p.Ser268Ile) c.1091G>T (p.Ser364Ile) c.2126G>T (p.Ser709Ile) n.385G>T c.1076G>T (p.Ser359Ile) c.1025G>T (p.Ser342Ile) c.1127G>T (p.Ser376Ile) c.1037G>T (p.Ser346Ile) c.1028G>T (p.Ser343Ile) | |
| 3 | g.123319804C= | CA1398343582 | ADCY5 | c.803G= (p.Ser268=) c.1091G= (p.Ser364=) c.2126G= (p.Ser709=) n.385G= c.1076G= (p.Ser359=) c.1025G= (p.Ser342=) c.1127G= (p.Ser376=) c.1037G= (p.Ser346=) c.1028G= (p.Ser343=) | |
| 3 | g.123319804C>G | CA354218017 | ADCY5 | c.803G>C (p.Ser268Thr) c.1091G>C (p.Ser364Thr) c.2126G>C (p.Ser709Thr) n.385G>C c.1076G>C (p.Ser359Thr) c.1025G>C (p.Ser342Thr) c.1127G>C (p.Ser376Thr) c.1037G>C (p.Ser346Thr) c.1028G>C (p.Ser343Thr) | |
| 3 | g.123319804C>T | CA2577229 | ADCY5 | c.803G>A (p.Ser268Asn) c.1091G>A (p.Ser364Asn) c.2126G>A (p.Ser709Asn) n.385G>A c.1076G>A (p.Ser359Asn) c.1025G>A (p.Ser342Asn) c.1127G>A (p.Ser376Asn) c.1037G>A (p.Ser346Asn) c.1028G>A (p.Ser343Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319805T>A | CA354218018 | ADCY5 | c.802A>T (p.Ser268Cys) c.1090A>T (p.Ser364Cys) c.2125A>T (p.Ser709Cys) n.384A>T c.1075A>T (p.Ser359Cys) c.1024A>T (p.Ser342Cys) c.1126A>T (p.Ser376Cys) c.1036A>T (p.Ser346Cys) c.1027A>T (p.Ser343Cys) | |
| 3 | g.123319805T>C | CA2577230 | ADCY5 | c.802A>G (p.Ser268Gly) c.1090A>G (p.Ser364Gly) c.2125A>G (p.Ser709Gly) n.384A>G c.1075A>G (p.Ser359Gly) c.1024A>G (p.Ser342Gly) c.1126A>G (p.Ser376Gly) c.1036A>G (p.Ser346Gly) c.1027A>G (p.Ser343Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319805T>G | CA354218019 | ADCY5 | c.802A>C (p.Ser268Arg) c.1090A>C (p.Ser364Arg) c.2125A>C (p.Ser709Arg) n.384A>C c.1075A>C (p.Ser359Arg) c.1024A>C (p.Ser342Arg) c.1126A>C (p.Ser376Arg) c.1036A>C (p.Ser346Arg) c.1027A>C (p.Ser343Arg) | |
| 3 | g.123319805T= | CA1398343583 | ADCY5 | c.802A= (p.Ser268=) c.1090A= (p.Ser364=) c.2125A= (p.Ser709=) n.384A= c.1075A= (p.Ser359=) c.1024A= (p.Ser342=) c.1126A= (p.Ser376=) c.1036A= (p.Ser346=) c.1027A= (p.Ser343=) | |
| 3 | g.123319806C>A | CA354218020 | ADCY5 | c.801G>T (p.Glu267Asp) c.1089G>T (p.Glu363Asp) c.2124G>T (p.Glu708Asp) n.383G>T c.1074G>T (p.Glu358Asp) c.1023G>T (p.Glu341Asp) c.1125G>T (p.Glu375Asp) c.1035G>T (p.Glu345Asp) c.1026G>T (p.Glu342Asp) | |
| 3 | g.123319806C>G | CA354218021 | ADCY5 | c.801G>C (p.Glu267Asp) c.1089G>C (p.Glu363Asp) c.2124G>C (p.Glu708Asp) n.383G>C c.1074G>C (p.Glu358Asp) c.1023G>C (p.Glu341Asp) c.1125G>C (p.Glu375Asp) c.1035G>C (p.Glu345Asp) c.1026G>C (p.Glu342Asp) | |
| 3 | g.123319806C>T | CA435293211 | ADCY5 | c.801G>A (p.Glu267=) c.1089G>A (p.Glu363=) c.2124G>A (p.Glu708=) n.383G>A c.1074G>A (p.Glu358=) c.1023G>A (p.Glu341=) c.1125G>A (p.Glu375=) c.1035G>A (p.Glu345=) c.1026G>A (p.Glu342=) | |
| 3 | g.123319807T>A | CA354218022 | ADCY5 | c.800A>T (p.Glu267Val) c.1088A>T (p.Glu363Val) c.2123A>T (p.Glu708Val) n.382A>T c.1073A>T (p.Glu358Val) c.1022A>T (p.Glu341Val) c.1124A>T (p.Glu375Val) c.1034A>T (p.Glu345Val) c.1025A>T (p.Glu342Val) | |
| 3 | g.123319807T>C | CA354218024 | ADCY5 | c.800A>G (p.Glu267Gly) c.1088A>G (p.Glu363Gly) c.2123A>G (p.Glu708Gly) n.382A>G c.1073A>G (p.Glu358Gly) c.1022A>G (p.Glu341Gly) c.1124A>G (p.Glu375Gly) c.1034A>G (p.Glu345Gly) c.1025A>G (p.Glu342Gly) | |
| 3 | g.123319807T>G | CA354218023 | ADCY5 | c.800A>C (p.Glu267Ala) c.1088A>C (p.Glu363Ala) c.2123A>C (p.Glu708Ala) n.382A>C c.1073A>C (p.Glu358Ala) c.1022A>C (p.Glu341Ala) c.1124A>C (p.Glu375Ala) c.1034A>C (p.Glu345Ala) c.1025A>C (p.Glu342Ala) | |
| 3 | g.123319808C>A | CA354218025 | ADCY5 | c.799G>T (p.Glu267Ter) c.1087G>T (p.Glu363Ter) c.2122G>T (p.Glu708Ter) n.381G>T c.1072G>T (p.Glu358Ter) c.1021G>T (p.Glu341Ter) c.1123G>T (p.Glu375Ter) c.1033G>T (p.Glu345Ter) c.1024G>T (p.Glu342Ter) | |
| 3 | g.123319808C= | CA1398343584 | ADCY5 | c.799G= (p.Glu267=) c.1087G= (p.Glu363=) c.2122G= (p.Glu708=) n.381G= c.1072G= (p.Glu358=) c.1021G= (p.Glu341=) c.1123G= (p.Glu375=) c.1033G= (p.Glu345=) c.1024G= (p.Glu342=) | |
| 3 | g.123319808C>G | CA354218026 | ADCY5 | c.799G>C (p.Glu267Gln) c.1087G>C (p.Glu363Gln) c.2122G>C (p.Glu708Gln) n.381G>C c.1072G>C (p.Glu358Gln) c.1021G>C (p.Glu341Gln) c.1123G>C (p.Glu375Gln) c.1033G>C (p.Glu345Gln) c.1024G>C (p.Glu342Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123319808C>T | CA354218027 | ADCY5 | c.799G>A (p.Glu267Lys) c.1087G>A (p.Glu363Lys) c.2122G>A (p.Glu708Lys) n.381G>A c.1072G>A (p.Glu358Lys) c.1021G>A (p.Glu341Lys) c.1123G>A (p.Glu375Lys) c.1033G>A (p.Glu345Lys) c.1024G>A (p.Glu342Lys) | |
| 3 | g.123319809C>A | CA354218028 | ADCY5 | c.798G>T (p.Gln266His) c.1086G>T (p.Gln362His) c.2121G>T (p.Gln707His) n.380G>T c.1071G>T (p.Gln357His) c.1020G>T (p.Gln340His) c.1122G>T (p.Gln374His) c.1032G>T (p.Gln344His) c.1023G>T (p.Gln341His) | |
| 3 | g.123319809C>G | CA354218029 | ADCY5 | c.798G>C (p.Gln266His) c.1086G>C (p.Gln362His) c.2121G>C (p.Gln707His) n.380G>C c.1071G>C (p.Gln357His) c.1020G>C (p.Gln340His) c.1122G>C (p.Gln374His) c.1032G>C (p.Gln344His) c.1023G>C (p.Gln341His) | |
| 3 | g.123319809C>T | CA435293212 | ADCY5 | c.798G>A (p.Gln266=) c.1086G>A (p.Gln362=) c.2121G>A (p.Gln707=) n.380G>A c.1071G>A (p.Gln357=) c.1020G>A (p.Gln340=) c.1122G>A (p.Gln374=) c.1032G>A (p.Gln344=) c.1023G>A (p.Gln341=) | gnomAD v4 |
| 3 | g.123319810T>A | CA354218032 | ADCY5 | c.797A>T (p.Gln266Leu) c.1085A>T (p.Gln362Leu) c.2120A>T (p.Gln707Leu) n.379A>T c.1070A>T (p.Gln357Leu) c.1019A>T (p.Gln340Leu) c.1121A>T (p.Gln374Leu) c.1031A>T (p.Gln344Leu) c.1022A>T (p.Gln341Leu) | |
| 3 | g.123319810T>C | CA354218031 | ADCY5 | c.797A>G (p.Gln266Arg) c.1085A>G (p.Gln362Arg) c.2120A>G (p.Gln707Arg) n.379A>G c.1070A>G (p.Gln357Arg) c.1019A>G (p.Gln340Arg) c.1121A>G (p.Gln374Arg) c.1031A>G (p.Gln344Arg) c.1022A>G (p.Gln341Arg) | gnomAD v4 |
| 3 | g.123319810T>G | CA354218030 | ADCY5 | c.797A>C (p.Gln266Pro) c.1085A>C (p.Gln362Pro) c.2120A>C (p.Gln707Pro) n.379A>C c.1070A>C (p.Gln357Pro) c.1019A>C (p.Gln340Pro) c.1121A>C (p.Gln374Pro) c.1031A>C (p.Gln344Pro) c.1022A>C (p.Gln341Pro) | |
| 3 | g.123319811G>A | CA354218033 | ADCY5 | c.796C>T (p.Gln266Ter) c.1084C>T (p.Gln362Ter) c.2119C>T (p.Gln707Ter) n.378C>T c.1069C>T (p.Gln357Ter) c.1018C>T (p.Gln340Ter) c.1120C>T (p.Gln374Ter) c.1030C>T (p.Gln344Ter) c.1021C>T (p.Gln341Ter) | |
| 3 | g.123319811G>C | CA354218034 | ADCY5 | c.796C>G (p.Gln266Glu) c.1084C>G (p.Gln362Glu) c.2119C>G (p.Gln707Glu) n.378C>G c.1069C>G (p.Gln357Glu) c.1018C>G (p.Gln340Glu) c.1120C>G (p.Gln374Glu) c.1030C>G (p.Gln344Glu) c.1021C>G (p.Gln341Glu) | |
| 3 | g.123319811G>T | CA354218035 | ADCY5 | c.796C>A (p.Gln266Lys) c.1084C>A (p.Gln362Lys) c.2119C>A (p.Gln707Lys) n.378C>A c.1069C>A (p.Gln357Lys) c.1018C>A (p.Gln340Lys) c.1120C>A (p.Gln374Lys) c.1030C>A (p.Gln344Lys) c.1021C>A (p.Gln341Lys) | |
| 3 | g.123319812G>A | CA435293214 | ADCY5 | c.795C>T (p.Ala265=) c.1083C>T (p.Ala361=) c.2118C>T (p.Ala706=) n.377C>T c.1068C>T (p.Ala356=) c.1017C>T (p.Ala339=) c.1119C>T (p.Ala373=) c.1029C>T (p.Ala343=) c.1020C>T (p.Ala340=) | |
| 3 | g.123319812G>C | CA435293216 | ADCY5 | c.795C>G (p.Ala265=) c.1083C>G (p.Ala361=) c.2118C>G (p.Ala706=) n.377C>G c.1068C>G (p.Ala356=) c.1017C>G (p.Ala339=) c.1119C>G (p.Ala373=) c.1029C>G (p.Ala343=) c.1020C>G (p.Ala340=) | |
| 3 | g.123319812G>T | CA435293217 | ADCY5 | c.795C>A (p.Ala265=) c.1083C>A (p.Ala361=) c.2118C>A (p.Ala706=) n.377C>A c.1068C>A (p.Ala356=) c.1017C>A (p.Ala339=) c.1119C>A (p.Ala373=) c.1029C>A (p.Ala343=) c.1020C>A (p.Ala340=) | gnomAD v4 |
| 3 | g.123319813G>A | CA354218036 | ADCY5 | c.794C>T (p.Ala265Val) c.1082C>T (p.Ala361Val) c.2117C>T (p.Ala706Val) n.376C>T c.1067C>T (p.Ala356Val) c.1016C>T (p.Ala339Val) c.1118C>T (p.Ala373Val) c.1028C>T (p.Ala343Val) c.1019C>T (p.Ala340Val) | |
| 3 | g.123319813G>C | CA354218037 | ADCY5 | c.794C>G (p.Ala265Gly) c.1082C>G (p.Ala361Gly) c.2117C>G (p.Ala706Gly) n.376C>G c.1067C>G (p.Ala356Gly) c.1016C>G (p.Ala339Gly) c.1118C>G (p.Ala373Gly) c.1028C>G (p.Ala343Gly) c.1019C>G (p.Ala340Gly) | |
| 3 | g.123319813G>T | CA354218038 | ADCY5 | c.794C>A (p.Ala265Asp) c.1082C>A (p.Ala361Asp) c.2117C>A (p.Ala706Asp) n.376C>A c.1067C>A (p.Ala356Asp) c.1016C>A (p.Ala339Asp) c.1118C>A (p.Ala373Asp) c.1028C>A (p.Ala343Asp) c.1019C>A (p.Ala340Asp) | |
| 3 | g.123319814C>A | CA354218039 | ADCY5 | c.793G>T (p.Ala265Ser) c.1081G>T (p.Ala361Ser) c.2116G>T (p.Ala706Ser) n.375G>T c.1066G>T (p.Ala356Ser) c.1015G>T (p.Ala339Ser) c.1117G>T (p.Ala373Ser) c.1027G>T (p.Ala343Ser) c.1018G>T (p.Ala340Ser) | COSMIC |
| 3 | g.123319814C= | CA1398343585 | ADCY5 | c.793G= (p.Ala265=) c.1081G= (p.Ala361=) c.2116G= (p.Ala706=) n.375G= c.1066G= (p.Ala356=) c.1015G= (p.Ala339=) c.1117G= (p.Ala373=) c.1027G= (p.Ala343=) c.1018G= (p.Ala340=) | |
| 3 | g.123319814C>G | CA354218040 | ADCY5 | c.793G>C (p.Ala265Pro) c.1081G>C (p.Ala361Pro) c.2116G>C (p.Ala706Pro) n.375G>C c.1066G>C (p.Ala356Pro) c.1015G>C (p.Ala339Pro) c.1117G>C (p.Ala373Pro) c.1027G>C (p.Ala343Pro) c.1018G>C (p.Ala340Pro) | |
| 3 | g.123319814C>T | CA2577231 | ADCY5 | c.793G>A (p.Ala265Thr) c.1081G>A (p.Ala361Thr) c.2116G>A (p.Ala706Thr) n.375G>A c.1066G>A (p.Ala356Thr) c.1015G>A (p.Ala339Thr) c.1117G>A (p.Ala373Thr) c.1027G>A (p.Ala343Thr) c.1018G>A (p.Ala340Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319815G>A | CA2577232 | ADCY5 | c.792C>T (p.Asn264=) c.1080C>T (p.Asn360=) c.2115C>T (p.Asn705=) n.374C>T c.1065C>T (p.Asn355=) c.1014C>T (p.Asn338=) c.1116C>T (p.Asn372=) c.1026C>T (p.Asn342=) c.1017C>T (p.Asn339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319815G>C | CA354218041 | ADCY5 | c.792C>G (p.Asn264Lys) c.1080C>G (p.Asn360Lys) c.2115C>G (p.Asn705Lys) n.374C>G c.1065C>G (p.Asn355Lys) c.1014C>G (p.Asn338Lys) c.1116C>G (p.Asn372Lys) c.1026C>G (p.Asn342Lys) c.1017C>G (p.Asn339Lys) | |
| 3 | g.123319815G= | CA1398343586 | ADCY5 | c.792C= (p.Asn264=) c.1080C= (p.Asn360=) c.2115C= (p.Asn705=) n.374C= c.1065C= (p.Asn355=) c.1014C= (p.Asn338=) c.1116C= (p.Asn372=) c.1026C= (p.Asn342=) c.1017C= (p.Asn339=) | |
| 3 | g.123319815G>T | CA354218042 | ADCY5 | c.792C>A (p.Asn264Lys) c.1080C>A (p.Asn360Lys) c.2115C>A (p.Asn705Lys) n.374C>A c.1065C>A (p.Asn355Lys) c.1014C>A (p.Asn338Lys) c.1116C>A (p.Asn372Lys) c.1026C>A (p.Asn342Lys) c.1017C>A (p.Asn339Lys) | |
| 3 | g.123319816T>A | CA354218043 | ADCY5 | c.791A>T (p.Asn264Ile) c.1079A>T (p.Asn360Ile) c.2114A>T (p.Asn705Ile) n.373A>T c.1064A>T (p.Asn355Ile) c.1013A>T (p.Asn338Ile) c.1115A>T (p.Asn372Ile) c.1025A>T (p.Asn342Ile) c.1016A>T (p.Asn339Ile) | |
| 3 | g.123319816T>C | CA354218044 | ADCY5 | c.791A>G (p.Asn264Ser) c.1079A>G (p.Asn360Ser) c.2114A>G (p.Asn705Ser) n.373A>G c.1064A>G (p.Asn355Ser) c.1013A>G (p.Asn338Ser) c.1115A>G (p.Asn372Ser) c.1025A>G (p.Asn342Ser) c.1016A>G (p.Asn339Ser) | |
| 3 | g.123319816T>G | CA354218045 | ADCY5 | c.791A>C (p.Asn264Thr) c.1079A>C (p.Asn360Thr) c.2114A>C (p.Asn705Thr) n.373A>C c.1064A>C (p.Asn355Thr) c.1013A>C (p.Asn338Thr) c.1115A>C (p.Asn372Thr) c.1025A>C (p.Asn342Thr) c.1016A>C (p.Asn339Thr) | |
| 3 | g.123319817T>A | CA354218046 | ADCY5 | c.790A>T (p.Asn264Tyr) c.1078A>T (p.Asn360Tyr) c.2113A>T (p.Asn705Tyr) n.372A>T c.1063A>T (p.Asn355Tyr) c.1012A>T (p.Asn338Tyr) c.1114A>T (p.Asn372Tyr) c.1024A>T (p.Asn342Tyr) c.1015A>T (p.Asn339Tyr) | |
| 3 | g.123319817T>C | CA354218047 | ADCY5 | c.790A>G (p.Asn264Asp) c.1078A>G (p.Asn360Asp) c.2113A>G (p.Asn705Asp) n.372A>G c.1063A>G (p.Asn355Asp) c.1012A>G (p.Asn338Asp) c.1114A>G (p.Asn372Asp) c.1024A>G (p.Asn342Asp) c.1015A>G (p.Asn339Asp) | |
| 3 | g.123319817T>G | CA354218048 | ADCY5 | c.790A>C (p.Asn264His) c.1078A>C (p.Asn360His) c.2113A>C (p.Asn705His) n.372A>C c.1063A>C (p.Asn355His) c.1012A>C (p.Asn338His) c.1114A>C (p.Asn372His) c.1024A>C (p.Asn342His) c.1015A>C (p.Asn339His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123319817T= | CA1398343587 | ADCY5 | c.790A= (p.Asn264=) c.1078A= (p.Asn360=) c.2113A= (p.Asn705=) n.372A= c.1063A= (p.Asn355=) c.1012A= (p.Asn338=) c.1114A= (p.Asn372=) c.1024A= (p.Asn342=) c.1015A= (p.Asn339=) | |
| 3 | g.123319818C>A | CA354218049 | ADCY5 | c.789G>T (p.Lys263Asn) c.1077G>T (p.Lys359Asn) c.2112G>T (p.Lys704Asn) n.371G>T c.1062G>T (p.Lys354Asn) c.1011G>T (p.Lys337Asn) c.1113G>T (p.Lys371Asn) c.1023G>T (p.Lys341Asn) c.1014G>T (p.Lys338Asn) | |
| 3 | g.123319818C>G | CA354218050 | ADCY5 | c.789G>C (p.Lys263Asn) c.1077G>C (p.Lys359Asn) c.2112G>C (p.Lys704Asn) n.371G>C c.1062G>C (p.Lys354Asn) c.1011G>C (p.Lys337Asn) c.1113G>C (p.Lys371Asn) c.1023G>C (p.Lys341Asn) c.1014G>C (p.Lys338Asn) | |
| 3 | g.123319818C>T | CA435293220 | ADCY5 | c.789G>A (p.Lys263=) c.1077G>A (p.Lys359=) c.2112G>A (p.Lys704=) n.371G>A c.1062G>A (p.Lys354=) c.1011G>A (p.Lys337=) c.1113G>A (p.Lys371=) c.1023G>A (p.Lys341=) c.1014G>A (p.Lys338=) | |
| 3 | g.123319819C>A | CA354218051 | ADCY5 | c.789-1G>T (n.789-1G>T) c.1077-1G>T (n.1077-1G>T) c.2112-1G>T (n.2112-1G>T) n.371-1G>T c.1062-1G>T (n.1062-1G>T) c.1011-1G>T (n.1011-1G>T) c.1113-1G>T (n.1113-1G>T) c.1023-1G>T (n.1023-1G>T) c.1014-1G>T (n.1014-1G>T) | |
| 3 | g.123319819C= | CA1398343588 | ADCY5 | c.789-1G= (n.789-1G=) c.1077-1G= (n.1077-1G=) c.2112-1G= (n.2112-1G=) n.371-1G= c.1062-1G= (n.1062-1G=) c.1011-1G= (n.1011-1G=) c.1113-1G= (n.1113-1G=) c.1023-1G= (n.1023-1G=) c.1014-1G= (n.1014-1G=) | |
| 3 | g.123319819C>G | CA354218052 | ADCY5 | c.789-1G>C (n.789-1G>C) c.1077-1G>C (n.1077-1G>C) c.2112-1G>C (n.2112-1G>C) n.371-1G>C c.1062-1G>C (n.1062-1G>C) c.1011-1G>C (n.1011-1G>C) c.1113-1G>C (n.1113-1G>C) c.1023-1G>C (n.1023-1G>C) c.1014-1G>C (n.1014-1G>C) | |
| 3 | g.123319819C>T | CA82896257 | ADCY5 | c.789-1G>A (n.789-1G>A) c.1077-1G>A (n.1077-1G>A) c.2112-1G>A (n.2112-1G>A) n.371-1G>A c.1062-1G>A (n.1062-1G>A) c.1011-1G>A (n.1011-1G>A) c.1113-1G>A (n.1113-1G>A) c.1023-1G>A (n.1023-1G>A) c.1014-1G>A (n.1014-1G>A) | dbSNP |
| 3 | g.123319820T>A | CA354218053 | ADCY5 | c.789-2A>T (n.789-2A>T) c.1077-2A>T (n.1077-2A>T) c.2112-2A>T (n.2112-2A>T) n.371-2A>T c.1062-2A>T (n.1062-2A>T) c.1011-2A>T (n.1011-2A>T) c.1113-2A>T (n.1113-2A>T) c.1023-2A>T (n.1023-2A>T) c.1014-2A>T (n.1014-2A>T) | |
| 3 | g.123319820T>C | CA354218055 | ADCY5 | c.789-2A>G (n.789-2A>G) c.1077-2A>G (n.1077-2A>G) c.2112-2A>G (n.2112-2A>G) n.371-2A>G c.1062-2A>G (n.1062-2A>G) c.1011-2A>G (n.1011-2A>G) c.1113-2A>G (n.1113-2A>G) c.1023-2A>G (n.1023-2A>G) c.1014-2A>G (n.1014-2A>G) | |
| 3 | g.123319820T>G | CA354218054 | ADCY5 | c.789-2A>C (n.789-2A>C) c.1077-2A>C (n.1077-2A>C) c.2112-2A>C (n.2112-2A>C) n.371-2A>C c.1062-2A>C (n.1062-2A>C) c.1011-2A>C (n.1011-2A>C) c.1113-2A>C (n.1113-2A>C) c.1023-2A>C (n.1023-2A>C) c.1014-2A>C (n.1014-2A>C) | |
| 3 | g.123319822G>A | CA1398343590 | ADCY5 | c.789-4C>T (n.789-4C>T) c.1077-4C>T (n.1077-4C>T) c.2112-4C>T (n.2112-4C>T) n.371-4C>T c.1062-4C>T (n.1062-4C>T) c.1011-4C>T (n.1011-4C>T) c.1113-4C>T (n.1113-4C>T) c.1023-4C>T (n.1023-4C>T) c.1014-4C>T (n.1014-4C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.123319822G= | CA1398343589 | ADCY5 | c.789-4C= (n.789-4C=) c.1077-4C= (n.1077-4C=) c.2112-4C= (n.2112-4C=) n.371-4C= c.1062-4C= (n.1062-4C=) c.1011-4C= (n.1011-4C=) c.1113-4C= (n.1113-4C=) c.1023-4C= (n.1023-4C=) c.1014-4C= (n.1014-4C=) | |
| 3 | g.123319823G>C | CA545685613 | ADCY5 | c.789-5C>G (n.789-5C>G) c.1077-5C>G (n.1077-5C>G) c.2112-5C>G (n.2112-5C>G) n.371-5C>G c.1062-5C>G (n.1062-5C>G) c.1011-5C>G (n.1011-5C>G) c.1113-5C>G (n.1113-5C>G) c.1023-5C>G (n.1023-5C>G) c.1014-5C>G (n.1014-5C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123319823G= | CA1398343591 | ADCY5 | c.789-5C= (n.789-5C=) c.1077-5C= (n.1077-5C=) c.2112-5C= (n.2112-5C=) n.371-5C= c.1062-5C= (n.1062-5C=) c.1011-5C= (n.1011-5C=) c.1113-5C= (n.1113-5C=) c.1023-5C= (n.1023-5C=) c.1014-5C= (n.1014-5C=) | |
| 3 | g.123319823G>T | CA2577233 | ADCY5 | c.789-5C>A (n.789-5C>A) c.1077-5C>A (n.1077-5C>A) c.2112-5C>A (n.2112-5C>A) n.371-5C>A c.1062-5C>A (n.1062-5C>A) c.1011-5C>A (n.1011-5C>A) c.1113-5C>A (n.1113-5C>A) c.1023-5C>A (n.1023-5C>A) c.1014-5C>A (n.1014-5C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319824G>A | CA82896262 | ADCY5 | c.789-6C>T (n.789-6C>T) c.1077-6C>T (n.1077-6C>T) c.2112-6C>T (n.2112-6C>T) n.371-6C>T c.1062-6C>T (n.1062-6C>T) c.1011-6C>T (n.1011-6C>T) c.1113-6C>T (n.1113-6C>T) c.1023-6C>T (n.1023-6C>T) c.1014-6C>T (n.1014-6C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123319824G= | CA1398343592 | ADCY5 | c.789-6C= (n.789-6C=) c.1077-6C= (n.1077-6C=) c.2112-6C= (n.2112-6C=) n.371-6C= c.1062-6C= (n.1062-6C=) c.1011-6C= (n.1011-6C=) c.1113-6C= (n.1113-6C=) c.1023-6C= (n.1023-6C=) c.1014-6C= (n.1014-6C=) | |
| 3 | g.123319825A>G | CA2577875110 | ADCY5 | c.789-7T>C (n.789-7T>C) c.1077-7T>C (n.1077-7T>C) c.2112-7T>C (n.2112-7T>C) n.371-7T>C c.1062-7T>C (n.1062-7T>C) c.1011-7T>C (n.1011-7T>C) c.1113-7T>C (n.1113-7T>C) c.1023-7T>C (n.1023-7T>C) c.1014-7T>C (n.1014-7T>C) | |
| 3 | g.123319827C>T | CA2667293327 | ADCY5 | c.789-9G>A (n.789-9G>A) c.1077-9G>A (n.1077-9G>A) c.2112-9G>A (n.2112-9G>A) n.371-9G>A c.1062-9G>A (n.1062-9G>A) c.1011-9G>A (n.1011-9G>A) c.1113-9G>A (n.1113-9G>A) c.1023-9G>A (n.1023-9G>A) c.1014-9G>A (n.1014-9G>A) | gnomAD v4 |
| 3 | g.123319828A>G | CA2667293328 | ADCY5 | c.789-10T>C (n.789-10T>C) c.1077-10T>C (n.1077-10T>C) c.2112-10T>C (n.2112-10T>C) n.371-10T>C c.1062-10T>C (n.1062-10T>C) c.1011-10T>C (n.1011-10T>C) c.1113-10T>C (n.1113-10T>C) c.1023-10T>C (n.1023-10T>C) c.1014-10T>C (n.1014-10T>C) | gnomAD v4 |
| 3 | g.123319829G>A | CA2667293329 | ADCY5 | c.789-11C>T (n.789-11C>T) c.1077-11C>T (n.1077-11C>T) c.2112-11C>T (n.2112-11C>T) n.371-11C>T c.1062-11C>T (n.1062-11C>T) c.1011-11C>T (n.1011-11C>T) c.1113-11C>T (n.1113-11C>T) c.1023-11C>T (n.1023-11C>T) c.1014-11C>T (n.1014-11C>T) | gnomAD v4 |
| 3 | g.123319832G>A | CA82896264 | ADCY5 | c.789-14C>T (n.789-14C>T) c.1077-14C>T (n.1077-14C>T) c.2112-14C>T (n.2112-14C>T) n.371-14C>T c.1062-14C>T (n.1062-14C>T) c.1011-14C>T (n.1011-14C>T) c.1113-14C>T (n.1113-14C>T) c.1023-14C>T (n.1023-14C>T) c.1014-14C>T (n.1014-14C>T) | dbSNP gnomAD v4 |
| 3 | g.123319832G= | CA1398343593 | ADCY5 | c.789-14C= (n.789-14C=) c.1077-14C= (n.1077-14C=) c.2112-14C= (n.2112-14C=) n.371-14C= c.1062-14C= (n.1062-14C=) c.1011-14C= (n.1011-14C=) c.1113-14C= (n.1113-14C=) c.1023-14C= (n.1023-14C=) c.1014-14C= (n.1014-14C=) | |
| 3 | g.123319833_123319834delinsGC | CA1398343594 | ADCY5 | c.789-16_789-15delinsGC (n.789-16_789-15delinsGC) c.1077-16_1077-15delinsGC (n.1077-16_1077-15delinsGC) c.2112-16_2112-15delinsGC (n.2112-16_2112-15delinsGC) n.371-16_371-15delinsGC c.1062-16_1062-15delinsGC (n.1062-16_1062-15delinsGC) c.1011-16_1011-15delinsGC (n.1011-16_1011-15delinsGC) c.1113-16_1113-15delinsGC (n.1113-16_1113-15delinsGC) c.1023-16_1023-15delinsGC (n.1023-16_1023-15delinsGC) c.1014-16_1014-15delinsGC (n.1014-16_1014-15delinsGC) | |
| 3 | g.123319834del | CA545685614 | ADCY5 | c.789-16del (n.789-16del) c.1077-16del (n.1077-16del) c.2112-16del (n.2112-16del) n.371-16del c.1062-16del (n.1062-16del) c.1011-16del (n.1011-16del) c.1113-16del (n.1113-16del) c.1023-16del (n.1023-16del) c.1014-16del (n.1014-16del) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123319835A= | CA1398343595 | ADCY5 | c.789-17T= (n.789-17T=) c.1077-17T= (n.1077-17T=) c.2112-17T= (n.2112-17T=) n.371-17T= c.1062-17T= (n.1062-17T=) c.1011-17T= (n.1011-17T=) c.1113-17T= (n.1113-17T=) c.1023-17T= (n.1023-17T=) c.1014-17T= (n.1014-17T=) | |
| 3 | g.123319835A>G | CA545685615 | ADCY5 | c.789-17T>C (n.789-17T>C) c.1077-17T>C (n.1077-17T>C) c.2112-17T>C (n.2112-17T>C) n.371-17T>C c.1062-17T>C (n.1062-17T>C) c.1011-17T>C (n.1011-17T>C) c.1113-17T>C (n.1113-17T>C) c.1023-17T>C (n.1023-17T>C) c.1014-17T>C (n.1014-17T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123319836C>A | CA2758206280 | ADCY5 | c.789-18G>T (n.789-18G>T) c.1077-18G>T (n.1077-18G>T) c.2112-18G>T (n.2112-18G>T) n.371-18G>T c.1062-18G>T (n.1062-18G>T) c.1011-18G>T (n.1011-18G>T) c.1113-18G>T (n.1113-18G>T) c.1023-18G>T (n.1023-18G>T) c.1014-18G>T (n.1014-18G>T) | |
| 3 | g.123319836C= | CA1398343596 | ADCY5 | c.789-18G= (n.789-18G=) c.1077-18G= (n.1077-18G=) c.2112-18G= (n.2112-18G=) n.371-18G= c.1062-18G= (n.1062-18G=) c.1011-18G= (n.1011-18G=) c.1113-18G= (n.1113-18G=) c.1023-18G= (n.1023-18G=) c.1014-18G= (n.1014-18G=) | |
| 3 | g.123319836C>G | CA898164068 | ADCY5 | c.789-18G>C (n.789-18G>C) c.1077-18G>C (n.1077-18G>C) c.2112-18G>C (n.2112-18G>C) n.371-18G>C c.1062-18G>C (n.1062-18G>C) c.1011-18G>C (n.1011-18G>C) c.1113-18G>C (n.1113-18G>C) c.1023-18G>C (n.1023-18G>C) c.1014-18G>C (n.1014-18G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123319836C>T | CA2577235 | ADCY5 | c.789-18G>A (n.789-18G>A) c.1077-18G>A (n.1077-18G>A) c.2112-18G>A (n.2112-18G>A) n.371-18G>A c.1062-18G>A (n.1062-18G>A) c.1011-18G>A (n.1011-18G>A) c.1113-18G>A (n.1113-18G>A) c.1023-18G>A (n.1023-18G>A) c.1014-18G>A (n.1014-18G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319838_123319841dup | CA2577234 | ADCY5 | c.789-21_789-18dup (n.789-21_789-18dup) c.1077-21_1077-18dup (n.1077-21_1077-18dup) c.2112-21_2112-18dup (n.2112-21_2112-18dup) n.371-21_371-18dup c.1062-21_1062-18dup (n.1062-21_1062-18dup) c.1011-21_1011-18dup (n.1011-21_1011-18dup) c.1113-21_1113-18dup (n.1113-21_1113-18dup) c.1023-21_1023-18dup (n.1023-21_1023-18dup) c.1014-21_1014-18dup (n.1014-21_1014-18dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319837G>A | CA2577236 | ADCY5 | c.789-19C>T (n.789-19C>T) c.1077-19C>T (n.1077-19C>T) c.2112-19C>T (n.2112-19C>T) n.371-19C>T c.1062-19C>T (n.1062-19C>T) c.1011-19C>T (n.1011-19C>T) c.1113-19C>T (n.1113-19C>T) c.1023-19C>T (n.1023-19C>T) c.1014-19C>T (n.1014-19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319837G>C | CA545685616 | ADCY5 | c.789-19C>G (n.789-19C>G) c.1077-19C>G (n.1077-19C>G) c.2112-19C>G (n.2112-19C>G) n.371-19C>G c.1062-19C>G (n.1062-19C>G) c.1011-19C>G (n.1011-19C>G) c.1113-19C>G (n.1113-19C>G) c.1023-19C>G (n.1023-19C>G) c.1014-19C>G (n.1014-19C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319837G= | CA1398343597 | ADCY5 | c.789-19C= (n.789-19C=) c.1077-19C= (n.1077-19C=) c.2112-19C= (n.2112-19C=) n.371-19C= c.1062-19C= (n.1062-19C=) c.1011-19C= (n.1011-19C=) c.1113-19C= (n.1113-19C=) c.1023-19C= (n.1023-19C=) c.1014-19C= (n.1014-19C=) | |
| 3 | g.123319838G>A | CA2667293330 | ADCY5 | c.789-20C>T (n.789-20C>T) c.1077-20C>T (n.1077-20C>T) c.2112-20C>T (n.2112-20C>T) n.371-20C>T c.1062-20C>T (n.1062-20C>T) c.1011-20C>T (n.1011-20C>T) c.1113-20C>T (n.1113-20C>T) c.1023-20C>T (n.1023-20C>T) c.1014-20C>T (n.1014-20C>T) | gnomAD v4 |
| 3 | g.123319839G>A | CA2577875111 | ADCY5 | c.789-21C>T (n.789-21C>T) c.1077-21C>T (n.1077-21C>T) c.2112-21C>T (n.2112-21C>T) n.371-21C>T c.1062-21C>T (n.1062-21C>T) c.1011-21C>T (n.1011-21C>T) c.1113-21C>T (n.1113-21C>T) c.1023-21C>T (n.1023-21C>T) c.1014-21C>T (n.1014-21C>T) | gnomAD v4 |
| 3 | g.123319839G= | CA1398343598 | ADCY5 | c.789-21C= (n.789-21C=) c.1077-21C= (n.1077-21C=) c.2112-21C= (n.2112-21C=) n.371-21C= c.1062-21C= (n.1062-21C=) c.1011-21C= (n.1011-21C=) c.1113-21C= (n.1113-21C=) c.1023-21C= (n.1023-21C=) c.1014-21C= (n.1014-21C=) | |
| 3 | g.123319839G>T | CA545685617 | ADCY5 | c.789-21C>A (n.789-21C>A) c.1077-21C>A (n.1077-21C>A) c.2112-21C>A (n.2112-21C>A) n.371-21C>A c.1062-21C>A (n.1062-21C>A) c.1011-21C>A (n.1011-21C>A) c.1113-21C>A (n.1113-21C>A) c.1023-21C>A (n.1023-21C>A) c.1014-21C>A (n.1014-21C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123319840C= | CA1398343599 | ADCY5 | c.789-22G= (n.789-22G=) c.1077-22G= (n.1077-22G=) c.2112-22G= (n.2112-22G=) n.371-22G= c.1062-22G= (n.1062-22G=) c.1011-22G= (n.1011-22G=) c.1113-22G= (n.1113-22G=) c.1023-22G= (n.1023-22G=) c.1014-22G= (n.1014-22G=) | |
| 3 | g.123319840C>G | CA2577875112 | ADCY5 | c.789-22G>C (n.789-22G>C) c.1077-22G>C (n.1077-22G>C) c.2112-22G>C (n.2112-22G>C) n.371-22G>C c.1062-22G>C (n.1062-22G>C) c.1011-22G>C (n.1011-22G>C) c.1113-22G>C (n.1113-22G>C) c.1023-22G>C (n.1023-22G>C) c.1014-22G>C (n.1014-22G>C) | |
| 3 | g.123319840C>T | CA2577237 | ADCY5 | c.789-22G>A (n.789-22G>A) c.1077-22G>A (n.1077-22G>A) c.2112-22G>A (n.2112-22G>A) n.371-22G>A c.1062-22G>A (n.1062-22G>A) c.1011-22G>A (n.1011-22G>A) c.1113-22G>A (n.1113-22G>A) c.1023-22G>A (n.1023-22G>A) c.1014-22G>A (n.1014-22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319841del | CA2667293331 | ADCY5 | c.789-23del (n.789-23del) c.1077-23del (n.1077-23del) c.2112-23del (n.2112-23del) n.371-23del c.1062-23del (n.1062-23del) c.1011-23del (n.1011-23del) c.1113-23del (n.1113-23del) c.1023-23del (n.1023-23del) c.1014-23del (n.1014-23del) | gnomAD v4 |
| 3 | g.123319841G>A | CA2577239 | ADCY5 | c.789-23C>T (n.789-23C>T) c.1077-23C>T (n.1077-23C>T) c.2112-23C>T (n.2112-23C>T) n.371-23C>T c.1062-23C>T (n.1062-23C>T) c.1011-23C>T (n.1011-23C>T) c.1113-23C>T (n.1113-23C>T) c.1023-23C>T (n.1023-23C>T) c.1014-23C>T (n.1014-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319841G>C | CA2577238 | ADCY5 | c.789-23C>G (n.789-23C>G) c.1077-23C>G (n.1077-23C>G) c.2112-23C>G (n.2112-23C>G) n.371-23C>G c.1062-23C>G (n.1062-23C>G) c.1011-23C>G (n.1011-23C>G) c.1113-23C>G (n.1113-23C>G) c.1023-23C>G (n.1023-23C>G) c.1014-23C>G (n.1014-23C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319841G= | CA1398343600 | ADCY5 | c.789-23C= (n.789-23C=) c.1077-23C= (n.1077-23C=) c.2112-23C= (n.2112-23C=) n.371-23C= c.1062-23C= (n.1062-23C=) c.1011-23C= (n.1011-23C=) c.1113-23C= (n.1113-23C=) c.1023-23C= (n.1023-23C=) c.1014-23C= (n.1014-23C=) | |
| 3 | g.123319843G>A | CA2519257312 | ADCY5 | c.789-25C>T (n.789-25C>T) c.1077-25C>T (n.1077-25C>T) c.2112-25C>T (n.2112-25C>T) n.371-25C>T c.1062-25C>T (n.1062-25C>T) c.1011-25C>T (n.1011-25C>T) c.1113-25C>T (n.1113-25C>T) c.1023-25C>T (n.1023-25C>T) c.1014-25C>T (n.1014-25C>T) | |
| 3 | g.123319845G>A | CA2703963568 | ADCY5 | c.789-27C>T (n.789-27C>T) c.1077-27C>T (n.1077-27C>T) c.2112-27C>T (n.2112-27C>T) n.371-27C>T c.1062-27C>T (n.1062-27C>T) c.1011-27C>T (n.1011-27C>T) c.1113-27C>T (n.1113-27C>T) c.1023-27C>T (n.1023-27C>T) c.1014-27C>T (n.1014-27C>T) | dbSNP |
| 3 | g.123319846A= | CA1398343601 | ADCY5 | c.789-28T= (n.789-28T=) c.1077-28T= (n.1077-28T=) c.2112-28T= (n.2112-28T=) n.371-28T= c.1062-28T= (n.1062-28T=) c.1011-28T= (n.1011-28T=) c.1113-28T= (n.1113-28T=) c.1023-28T= (n.1023-28T=) c.1014-28T= (n.1014-28T=) | |
| 3 | g.123319846A>C | CA1053003908 | ADCY5 | c.789-28T>G (n.789-28T>G) c.1077-28T>G (n.1077-28T>G) c.2112-28T>G (n.2112-28T>G) n.371-28T>G c.1062-28T>G (n.1062-28T>G) c.1011-28T>G (n.1011-28T>G) c.1113-28T>G (n.1113-28T>G) c.1023-28T>G (n.1023-28T>G) c.1014-28T>G (n.1014-28T>G) | dbSNP |
| 3 | g.123319847C>A | CA2577240 | ADCY5 | c.789-29G>T (n.789-29G>T) c.1077-29G>T (n.1077-29G>T) c.2112-29G>T (n.2112-29G>T) n.371-29G>T c.1062-29G>T (n.1062-29G>T) c.1011-29G>T (n.1011-29G>T) c.1113-29G>T (n.1113-29G>T) c.1023-29G>T (n.1023-29G>T) c.1014-29G>T (n.1014-29G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319847C= | CA1398343602 | ADCY5 | c.789-29G= (n.789-29G=) c.1077-29G= (n.1077-29G=) c.2112-29G= (n.2112-29G=) n.371-29G= c.1062-29G= (n.1062-29G=) c.1011-29G= (n.1011-29G=) c.1113-29G= (n.1113-29G=) c.1023-29G= (n.1023-29G=) c.1014-29G= (n.1014-29G=) | |
| 3 | g.123319847C>T | CA2577241 | ADCY5 | c.789-29G>A (n.789-29G>A) c.1077-29G>A (n.1077-29G>A) c.2112-29G>A (n.2112-29G>A) n.371-29G>A c.1062-29G>A (n.1062-29G>A) c.1011-29G>A (n.1011-29G>A) c.1113-29G>A (n.1113-29G>A) c.1023-29G>A (n.1023-29G>A) c.1014-29G>A (n.1014-29G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.123319849G>A | CA2577242 | ADCY5 | c.789-31C>T (n.789-31C>T) c.1077-31C>T (n.1077-31C>T) c.2112-31C>T (n.2112-31C>T) n.371-31C>T c.1062-31C>T (n.1062-31C>T) c.1011-31C>T (n.1011-31C>T) c.1113-31C>T (n.1113-31C>T) c.1023-31C>T (n.1023-31C>T) c.1014-31C>T (n.1014-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.123319849G= | CA1398343603 | ADCY5 | c.789-31C= (n.789-31C=) c.1077-31C= (n.1077-31C=) c.2112-31C= (n.2112-31C=) n.371-31C= c.1062-31C= (n.1062-31C=) c.1011-31C= (n.1011-31C=) c.1113-31C= (n.1113-31C=) c.1023-31C= (n.1023-31C=) c.1014-31C= (n.1014-31C=) | |
| 3 | g.123319854_123319879del | CA2667293332 | ADCY5 | c.789-56_789-31del (n.789-56_789-31del) c.1077-56_1077-31del (n.1077-56_1077-31del) c.2112-56_2112-31del (n.2112-56_2112-31del) n.371-56_371-31del c.1062-56_1062-31del (n.1062-56_1062-31del) c.1011-56_1011-31del (n.1011-56_1011-31del) c.1113-56_1113-31del (n.1113-56_1113-31del) c.1023-56_1023-31del (n.1023-56_1023-31del) c.1014-56_1014-31del (n.1014-56_1014-31del) | gnomAD v4 |
| 3 | g.123319850G>C | CA82896300 | ADCY5 | c.789-32C>G (n.789-32C>G) c.1077-32C>G (n.1077-32C>G) c.2112-32C>G (n.2112-32C>G) n.371-32C>G c.1062-32C>G (n.1062-32C>G) c.1011-32C>G (n.1011-32C>G) c.1113-32C>G (n.1113-32C>G) c.1023-32C>G (n.1023-32C>G) c.1014-32C>G (n.1014-32C>G) | dbSNP |
| 3 | g.123319850G= | CA1398343604 | ADCY5 | c.789-32C= (n.789-32C=) c.1077-32C= (n.1077-32C=) c.2112-32C= (n.2112-32C=) n.371-32C= c.1062-32C= (n.1062-32C=) c.1011-32C= (n.1011-32C=) c.1113-32C= (n.1113-32C=) c.1023-32C= (n.1023-32C=) c.1014-32C= (n.1014-32C=) | |
| 3 | g.123319851C>A | CA545685618 | ADCY5 | c.789-33G>T (n.789-33G>T) c.1077-33G>T (n.1077-33G>T) c.2112-33G>T (n.2112-33G>T) n.371-33G>T c.1062-33G>T (n.1062-33G>T) c.1011-33G>T (n.1011-33G>T) c.1113-33G>T (n.1113-33G>T) c.1023-33G>T (n.1023-33G>T) c.1014-33G>T (n.1014-33G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123319851C= | CA1398343605 | ADCY5 | c.789-33G= (n.789-33G=) c.1077-33G= (n.1077-33G=) c.2112-33G= (n.2112-33G=) n.371-33G= c.1062-33G= (n.1062-33G=) c.1011-33G= (n.1011-33G=) c.1113-33G= (n.1113-33G=) c.1023-33G= (n.1023-33G=) c.1014-33G= (n.1014-33G=) | |
| 3 | g.123319851C>G | CA898164079 | ADCY5 | c.789-33G>C (n.789-33G>C) c.1077-33G>C (n.1077-33G>C) c.2112-33G>C (n.2112-33G>C) n.371-33G>C c.1062-33G>C (n.1062-33G>C) c.1011-33G>C (n.1011-33G>C) c.1113-33G>C (n.1113-33G>C) c.1023-33G>C (n.1023-33G>C) c.1014-33G>C (n.1014-33G>C) | dbSNP |
| 3 | g.123319851C>T | CA2667293333 | ADCY5 | c.789-33G>A (n.789-33G>A) c.1077-33G>A (n.1077-33G>A) c.2112-33G>A (n.2112-33G>A) n.371-33G>A c.1062-33G>A (n.1062-33G>A) c.1011-33G>A (n.1011-33G>A) c.1113-33G>A (n.1113-33G>A) c.1023-33G>A (n.1023-33G>A) c.1014-33G>A (n.1014-33G>A) | gnomAD v4 |
| 3 | g.123319852T>C | CA1053003910 | ADCY5 | c.789-34A>G (n.789-34A>G) c.1077-34A>G (n.1077-34A>G) c.2112-34A>G (n.2112-34A>G) n.371-34A>G c.1062-34A>G (n.1062-34A>G) c.1011-34A>G (n.1011-34A>G) c.1113-34A>G (n.1113-34A>G) c.1023-34A>G (n.1023-34A>G) c.1014-34A>G (n.1014-34A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123319852T= | CA1398343606 | ADCY5 | c.789-34A= (n.789-34A=) c.1077-34A= (n.1077-34A=) c.2112-34A= (n.2112-34A=) n.371-34A= c.1062-34A= (n.1062-34A=) c.1011-34A= (n.1011-34A=) c.1113-34A= (n.1113-34A=) c.1023-34A= (n.1023-34A=) c.1014-34A= (n.1014-34A=) | |
| 3 | g.123319853G>C | CA82896306 | ADCY5 | c.789-35C>G (n.789-35C>G) c.1077-35C>G (n.1077-35C>G) c.2112-35C>G (n.2112-35C>G) n.371-35C>G c.1062-35C>G (n.1062-35C>G) c.1011-35C>G (n.1011-35C>G) c.1113-35C>G (n.1113-35C>G) c.1023-35C>G (n.1023-35C>G) c.1014-35C>G (n.1014-35C>G) | dbSNP gnomAD v4 |
| 3 | g.123319853G= | CA1398343607 | ADCY5 | c.789-35C= (n.789-35C=) c.1077-35C= (n.1077-35C=) c.2112-35C= (n.2112-35C=) n.371-35C= c.1062-35C= (n.1062-35C=) c.1011-35C= (n.1011-35C=) c.1113-35C= (n.1113-35C=) c.1023-35C= (n.1023-35C=) c.1014-35C= (n.1014-35C=) | |
| 3 | g.123319853G>T | CA82896308 | ADCY5 | c.789-35C>A (n.789-35C>A) c.1077-35C>A (n.1077-35C>A) c.2112-35C>A (n.2112-35C>A) n.371-35C>A c.1062-35C>A (n.1062-35C>A) c.1011-35C>A (n.1011-35C>A) c.1113-35C>A (n.1113-35C>A) c.1023-35C>A (n.1023-35C>A) c.1014-35C>A (n.1014-35C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.123319854A= | CA1398343608 | ADCY5 | c.789-36T= (n.789-36T=) c.1077-36T= (n.1077-36T=) c.2112-36T= (n.2112-36T=) n.371-36T= c.1062-36T= (n.1062-36T=) c.1011-36T= (n.1011-36T=) c.1113-36T= (n.1113-36T=) c.1023-36T= (n.1023-36T=) c.1014-36T= (n.1014-36T=) | |
| 3 | g.123319854A>G | CA898164089 | ADCY5 | c.789-36T>C (n.789-36T>C) c.1077-36T>C (n.1077-36T>C) c.2112-36T>C (n.2112-36T>C) n.371-36T>C c.1062-36T>C (n.1062-36T>C) c.1011-36T>C (n.1011-36T>C) c.1113-36T>C (n.1113-36T>C) c.1023-36T>C (n.1023-36T>C) c.1014-36T>C (n.1014-36T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.123319855C>T | CA2667293334 | ADCY5 | c.789-37G>A (n.789-37G>A) c.1077-37G>A (n.1077-37G>A) c.2112-37G>A (n.2112-37G>A) n.371-37G>A c.1062-37G>A (n.1062-37G>A) c.1011-37G>A (n.1011-37G>A) c.1113-37G>A (n.1113-37G>A) c.1023-37G>A (n.1023-37G>A) c.1014-37G>A (n.1014-37G>A) | gnomAD v4 |