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 |
|---|---|---|---|---|---|
| 7 | g.151568721G>A | CA370071411 | PRKAG2 | c.502C>T (p.Leu168Phe) c.1225C>T (p.Leu409Phe) c.1228C>T (p.Leu410Phe) c.505C>T (p.Leu169Phe) c.288C>T c.853C>T (p.Leu285Phe) n.722C>T c.445C>T (p.Leu149Phe) n.1343C>T c.*346+1450C>T (n.*346+1450C>T) c.*547C>T (n.*547C>T) c.1096C>T (p.Leu366Phe) c.996C>T (n.996C>T) c.1093C>T (p.Leu365Phe) n.961C>T c.280C>T (p.Leu94Phe) c.*468C>T (n.*468C>T) c.856C>T (p.Leu286Phe) c.1216C>T (p.Leu406Phe) c.1213C>T (p.Leu405Phe) c.481C>T (p.Leu161Phe) | |
| 7 | g.151568721G>C | CA370071412 | PRKAG2 | c.502C>G (p.Leu168Val) c.1225C>G (p.Leu409Val) c.1228C>G (p.Leu410Val) c.505C>G (p.Leu169Val) c.288C>G c.853C>G (p.Leu285Val) n.722C>G c.445C>G (p.Leu149Val) n.1343C>G c.*346+1450C>G (n.*346+1450C>G) c.*547C>G (n.*547C>G) c.1096C>G (p.Leu366Val) c.996C>G (n.996C>G) c.1093C>G (p.Leu365Val) n.961C>G c.280C>G (p.Leu94Val) c.*468C>G (n.*468C>G) c.856C>G (p.Leu286Val) c.1216C>G (p.Leu406Val) c.1213C>G (p.Leu405Val) c.481C>G (p.Leu161Val) | |
| 7 | g.151568721G>T | CA370071413 | PRKAG2 | c.502C>A (p.Leu168Ile) c.1225C>A (p.Leu409Ile) c.1228C>A (p.Leu410Ile) c.505C>A (p.Leu169Ile) c.288C>A c.853C>A (p.Leu285Ile) n.722C>A c.445C>A (p.Leu149Ile) n.1343C>A c.*346+1450C>A (n.*346+1450C>A) c.*547C>A (n.*547C>A) c.1096C>A (p.Leu366Ile) c.996C>A (n.996C>A) c.1093C>A (p.Leu365Ile) n.961C>A c.280C>A (p.Leu94Ile) c.*468C>A (n.*468C>A) c.856C>A (p.Leu286Ile) c.1216C>A (p.Leu406Ile) c.1213C>A (p.Leu405Ile) c.481C>A (p.Leu161Ile) | gnomAD v4 |
| 7 | g.151568722C>A | CA370071414 | PRKAG2 | c.501G>T (p.Gln167His) c.1224G>T (p.Gln408His) c.1227G>T (p.Gln409His) c.504G>T (p.Gln168His) c.287G>T c.852G>T (p.Gln284His) n.721G>T c.444G>T (p.Gln148His) n.1342G>T c.*346+1449G>T (n.*346+1449G>T) c.*546G>T (n.*546G>T) c.1095G>T (p.Gln365His) c.995G>T (n.995G>T) c.1092G>T (p.Gln364His) n.960G>T c.279G>T (p.Gln93His) c.*467G>T (n.*467G>T) c.855G>T (p.Gln285His) c.1215G>T (p.Gln405His) c.1212G>T (p.Gln404His) c.480G>T (p.Gln160His) | |
| 7 | g.151568722C>G | CA370071415 | PRKAG2 | c.501G>C (p.Gln167His) c.1224G>C (p.Gln408His) c.1227G>C (p.Gln409His) c.504G>C (p.Gln168His) c.287G>C c.852G>C (p.Gln284His) n.721G>C c.444G>C (p.Gln148His) n.1342G>C c.*346+1449G>C (n.*346+1449G>C) c.*546G>C (n.*546G>C) c.1095G>C (p.Gln365His) c.995G>C (n.995G>C) c.1092G>C (p.Gln364His) n.960G>C c.279G>C (p.Gln93His) c.*467G>C (n.*467G>C) c.855G>C (p.Gln285His) c.1215G>C (p.Gln405His) c.1212G>C (p.Gln404His) c.480G>C (p.Gln160His) | |
| 7 | g.151568722C>T | CA458668636 | PRKAG2 | c.501G>A (p.Gln167=) c.1224G>A (p.Gln408=) c.1227G>A (p.Gln409=) c.504G>A (p.Gln168=) c.287G>A c.852G>A (p.Gln284=) n.721G>A c.444G>A (p.Gln148=) n.1342G>A c.*346+1449G>A (n.*346+1449G>A) c.*546G>A (n.*546G>A) c.1095G>A (p.Gln365=) c.995G>A (n.995G>A) c.1092G>A (p.Gln364=) n.960G>A c.279G>A (p.Gln93=) c.*467G>A (n.*467G>A) c.855G>A (p.Gln285=) c.1215G>A (p.Gln405=) c.1212G>A (p.Gln404=) c.480G>A (p.Gln160=) | |
| 7 | g.151568723T>A | CA370071417 | PRKAG2 | c.500A>T (p.Gln167Leu) c.1223A>T (p.Gln408Leu) c.1226A>T (p.Gln409Leu) c.503A>T (p.Gln168Leu) c.286A>T c.851A>T (p.Gln284Leu) n.720A>T c.443A>T (p.Gln148Leu) n.1341A>T c.*346+1448A>T (n.*346+1448A>T) c.*545A>T (n.*545A>T) c.1094A>T (p.Gln365Leu) c.994A>T (n.994A>T) c.1091A>T (p.Gln364Leu) n.959A>T c.278A>T (p.Gln93Leu) c.*466A>T (n.*466A>T) c.854A>T (p.Gln285Leu) c.1214A>T (p.Gln405Leu) c.1211A>T (p.Gln404Leu) c.479A>T (p.Gln160Leu) | |
| 7 | g.151568723T>C | CA370071418 | PRKAG2 | c.500A>G (p.Gln167Arg) c.1223A>G (p.Gln408Arg) c.1226A>G (p.Gln409Arg) c.503A>G (p.Gln168Arg) c.286A>G c.851A>G (p.Gln284Arg) n.720A>G c.443A>G (p.Gln148Arg) n.1341A>G c.*346+1448A>G (n.*346+1448A>G) c.*545A>G (n.*545A>G) c.1094A>G (p.Gln365Arg) c.994A>G (n.994A>G) c.1091A>G (p.Gln364Arg) n.959A>G c.278A>G (p.Gln93Arg) c.*466A>G (n.*466A>G) c.854A>G (p.Gln285Arg) c.1214A>G (p.Gln405Arg) c.1211A>G (p.Gln404Arg) c.479A>G (p.Gln160Arg) | |
| 7 | g.151568723T>G | CA370071416 | PRKAG2 | c.500A>C (p.Gln167Pro) c.1223A>C (p.Gln408Pro) c.1226A>C (p.Gln409Pro) c.503A>C (p.Gln168Pro) c.286A>C c.851A>C (p.Gln284Pro) n.720A>C c.443A>C (p.Gln148Pro) n.1341A>C c.*346+1448A>C (n.*346+1448A>C) c.*545A>C (n.*545A>C) c.1094A>C (p.Gln365Pro) c.994A>C (n.994A>C) c.1091A>C (p.Gln364Pro) n.959A>C c.278A>C (p.Gln93Pro) c.*466A>C (n.*466A>C) c.854A>C (p.Gln285Pro) c.1214A>C (p.Gln405Pro) c.1211A>C (p.Gln404Pro) c.479A>C (p.Gln160Pro) | |
| 7 | g.151568724G>A | CA370071419 | PRKAG2 | c.499C>T (p.Gln167Ter) c.1222C>T (p.Gln408Ter) c.1225C>T (p.Gln409Ter) c.502C>T (p.Gln168Ter) c.285C>T c.850C>T (p.Gln284Ter) n.719C>T c.442C>T (p.Gln148Ter) n.1340C>T c.*346+1447C>T (n.*346+1447C>T) c.*544C>T (n.*544C>T) c.1093C>T (p.Gln365Ter) c.993C>T (n.993C>T) c.1090C>T (p.Gln364Ter) n.958C>T c.277C>T (p.Gln93Ter) c.*465C>T (n.*465C>T) c.853C>T (p.Gln285Ter) c.1213C>T (p.Gln405Ter) c.1210C>T (p.Gln404Ter) c.478C>T (p.Gln160Ter) | |
| 7 | g.151568724G>C | CA370071420 | PRKAG2 | c.499C>G (p.Gln167Glu) c.1222C>G (p.Gln408Glu) c.1225C>G (p.Gln409Glu) c.502C>G (p.Gln168Glu) c.285C>G c.850C>G (p.Gln284Glu) n.719C>G c.442C>G (p.Gln148Glu) n.1340C>G c.*346+1447C>G (n.*346+1447C>G) c.*544C>G (n.*544C>G) c.1093C>G (p.Gln365Glu) c.993C>G (n.993C>G) c.1090C>G (p.Gln364Glu) n.958C>G c.277C>G (p.Gln93Glu) c.*465C>G (n.*465C>G) c.853C>G (p.Gln285Glu) c.1213C>G (p.Gln405Glu) c.1210C>G (p.Gln404Glu) c.478C>G (p.Gln160Glu) | |
| 7 | g.151568724G>T | CA370071421 | PRKAG2 | c.499C>A (p.Gln167Lys) c.1222C>A (p.Gln408Lys) c.1225C>A (p.Gln409Lys) c.502C>A (p.Gln168Lys) c.285C>A c.850C>A (p.Gln284Lys) n.719C>A c.442C>A (p.Gln148Lys) n.1340C>A c.*346+1447C>A (n.*346+1447C>A) c.*544C>A (n.*544C>A) c.1093C>A (p.Gln365Lys) c.993C>A (n.993C>A) c.1090C>A (p.Gln364Lys) n.958C>A c.277C>A (p.Gln93Lys) c.*465C>A (n.*465C>A) c.853C>A (p.Gln285Lys) c.1213C>A (p.Gln405Lys) c.1210C>A (p.Gln404Lys) c.478C>A (p.Gln160Lys) | |
| 7 | g.151568725G>A | CA458668646 | PRKAG2 | c.498C>T (p.Leu166=) c.1221C>T (p.Leu407=) c.1224C>T (p.Leu408=) c.501C>T (p.Leu167=) c.284C>T c.849C>T (p.Leu283=) n.718C>T c.441C>T (p.Leu147=) n.1339C>T c.*346+1446C>T (n.*346+1446C>T) c.*543C>T (n.*543C>T) c.1092C>T (p.Leu364=) c.992C>T (n.992C>T) c.1089C>T (p.Leu363=) n.957C>T c.276C>T (p.Leu92=) c.*464C>T (n.*464C>T) c.852C>T (p.Leu284=) c.1212C>T (p.Leu404=) c.1209C>T (p.Leu403=) c.477C>T (p.Leu159=) | |
| 7 | g.151568725G>C | CA458668653 | PRKAG2 | c.498C>G (p.Leu166=) c.1221C>G (p.Leu407=) c.1224C>G (p.Leu408=) c.501C>G (p.Leu167=) c.284C>G c.849C>G (p.Leu283=) n.718C>G c.441C>G (p.Leu147=) n.1339C>G c.*346+1446C>G (n.*346+1446C>G) c.*543C>G (n.*543C>G) c.1092C>G (p.Leu364=) c.992C>G (n.992C>G) c.1089C>G (p.Leu363=) n.957C>G c.276C>G (p.Leu92=) c.*464C>G (n.*464C>G) c.852C>G (p.Leu284=) c.1212C>G (p.Leu404=) c.1209C>G (p.Leu403=) c.477C>G (p.Leu159=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.151568725G= | CA1752725446 | PRKAG2 | c.498C= (p.Leu166=) c.1221C= (p.Leu407=) c.1224C= (p.Leu408=) c.501C= (p.Leu167=) c.284C= c.849C= (p.Leu283=) n.718C= c.441C= (p.Leu147=) n.1339C= c.*346+1446C= (n.*346+1446C=) c.*543C= (n.*543C=) c.1092C= (p.Leu364=) c.992C= (n.992C=) c.1089C= (p.Leu363=) n.957C= c.276C= (p.Leu92=) c.*464C= (n.*464C=) c.852C= (p.Leu284=) c.1212C= (p.Leu404=) c.1209C= (p.Leu403=) c.477C= (p.Leu159=) | |
| 7 | g.151568725G>T | CA458668656 | PRKAG2 | c.498C>A (p.Leu166=) c.1221C>A (p.Leu407=) c.1224C>A (p.Leu408=) c.501C>A (p.Leu167=) c.284C>A c.849C>A (p.Leu283=) n.718C>A c.441C>A (p.Leu147=) n.1339C>A c.*346+1446C>A (n.*346+1446C>A) c.*543C>A (n.*543C>A) c.1092C>A (p.Leu364=) c.992C>A (n.992C>A) c.1089C>A (p.Leu363=) n.957C>A c.276C>A (p.Leu92=) c.*464C>A (n.*464C>A) c.852C>A (p.Leu284=) c.1212C>A (p.Leu404=) c.1209C>A (p.Leu403=) c.477C>A (p.Leu159=) | |
| 7 | g.151568726A>C | CA370071422 | PRKAG2 | c.497T>G (p.Leu166Arg) c.1220T>G (p.Leu407Arg) c.1223T>G (p.Leu408Arg) c.500T>G (p.Leu167Arg) c.283T>G c.848T>G (p.Leu283Arg) n.717T>G c.440T>G (p.Leu147Arg) n.1338T>G c.*346+1445T>G (n.*346+1445T>G) c.*542T>G (n.*542T>G) c.1091T>G (p.Leu364Arg) c.991T>G (n.991T>G) c.1088T>G (p.Leu363Arg) n.956T>G c.275T>G (p.Leu92Arg) c.*463T>G (n.*463T>G) c.851T>G (p.Leu284Arg) c.1211T>G (p.Leu404Arg) c.1208T>G (p.Leu403Arg) c.476T>G (p.Leu159Arg) | |
| 7 | g.151568726A>G | CA370071423 | PRKAG2 | c.497T>C (p.Leu166Pro) c.1220T>C (p.Leu407Pro) c.1223T>C (p.Leu408Pro) c.500T>C (p.Leu167Pro) c.283T>C c.848T>C (p.Leu283Pro) n.717T>C c.440T>C (p.Leu147Pro) n.1338T>C c.*346+1445T>C (n.*346+1445T>C) c.*542T>C (n.*542T>C) c.1091T>C (p.Leu364Pro) c.991T>C (n.991T>C) c.1088T>C (p.Leu363Pro) n.956T>C c.275T>C (p.Leu92Pro) c.*463T>C (n.*463T>C) c.851T>C (p.Leu284Pro) c.1211T>C (p.Leu404Pro) c.1208T>C (p.Leu403Pro) c.476T>C (p.Leu159Pro) | |
| 7 | g.151568726A>T | CA370071424 | PRKAG2 | c.497T>A (p.Leu166His) c.1220T>A (p.Leu407His) c.1223T>A (p.Leu408His) c.500T>A (p.Leu167His) c.283T>A c.848T>A (p.Leu283His) n.717T>A c.440T>A (p.Leu147His) n.1338T>A c.*346+1445T>A (n.*346+1445T>A) c.*542T>A (n.*542T>A) c.1091T>A (p.Leu364His) c.991T>A (n.991T>A) c.1088T>A (p.Leu363His) n.956T>A c.275T>A (p.Leu92His) c.*463T>A (n.*463T>A) c.851T>A (p.Leu284His) c.1211T>A (p.Leu404His) c.1208T>A (p.Leu403His) c.476T>A (p.Leu159His) | |
| 7 | g.151568727G>A | CA370071427 | PRKAG2 | c.496C>T (p.Leu166Phe) c.1219C>T (p.Leu407Phe) c.1222C>T (p.Leu408Phe) c.499C>T (p.Leu167Phe) c.282C>T c.847C>T (p.Leu283Phe) n.716C>T c.439C>T (p.Leu147Phe) n.1337C>T c.*346+1444C>T (n.*346+1444C>T) c.*541C>T (n.*541C>T) c.1090C>T (p.Leu364Phe) c.990C>T (n.990C>T) c.1087C>T (p.Leu363Phe) n.955C>T c.274C>T (p.Leu92Phe) c.*462C>T (n.*462C>T) c.850C>T (p.Leu284Phe) c.1210C>T (p.Leu404Phe) c.1207C>T (p.Leu403Phe) c.475C>T (p.Leu159Phe) | |
| 7 | g.151568727G>C | CA370071425 | PRKAG2 | c.496C>G (p.Leu166Val) c.1219C>G (p.Leu407Val) c.1222C>G (p.Leu408Val) c.499C>G (p.Leu167Val) c.282C>G c.847C>G (p.Leu283Val) n.716C>G c.439C>G (p.Leu147Val) n.1337C>G c.*346+1444C>G (n.*346+1444C>G) c.*541C>G (n.*541C>G) c.1090C>G (p.Leu364Val) c.990C>G (n.990C>G) c.1087C>G (p.Leu363Val) n.955C>G c.274C>G (p.Leu92Val) c.*462C>G (n.*462C>G) c.850C>G (p.Leu284Val) c.1210C>G (p.Leu404Val) c.1207C>G (p.Leu403Val) c.475C>G (p.Leu159Val) | |
| 7 | g.151568727G>T | CA370071426 | PRKAG2 | c.496C>A (p.Leu166Ile) c.1219C>A (p.Leu407Ile) c.1222C>A (p.Leu408Ile) c.499C>A (p.Leu167Ile) c.282C>A c.847C>A (p.Leu283Ile) n.716C>A c.439C>A (p.Leu147Ile) n.1337C>A c.*346+1444C>A (n.*346+1444C>A) c.*541C>A (n.*541C>A) c.1090C>A (p.Leu364Ile) c.990C>A (n.990C>A) c.1087C>A (p.Leu363Ile) n.955C>A c.274C>A (p.Leu92Ile) c.*462C>A (n.*462C>A) c.850C>A (p.Leu284Ile) c.1210C>A (p.Leu404Ile) c.1207C>A (p.Leu403Ile) c.475C>A (p.Leu159Ile) | |
| 7 | g.151568728G>A | CA458668672 | PRKAG2 | c.495C>T (p.Phe165=) c.1218C>T (p.Phe406=) c.1221C>T (p.Phe407=) c.498C>T (p.Phe166=) c.281C>T c.846C>T (p.Phe282=) n.715C>T c.438C>T (p.Phe146=) n.1336C>T c.*346+1443C>T (n.*346+1443C>T) c.*540C>T (n.*540C>T) c.1089C>T (p.Phe363=) c.989C>T (n.989C>T) c.1086C>T (p.Phe362=) n.954C>T c.273C>T (p.Phe91=) c.*461C>T (n.*461C>T) c.849C>T (p.Phe283=) c.1209C>T (p.Phe403=) c.1206C>T (p.Phe402=) c.474C>T (p.Phe158=) | |
| 7 | g.151568728G>C | CA370071428 | PRKAG2 | c.495C>G (p.Phe165Leu) c.1218C>G (p.Phe406Leu) c.1221C>G (p.Phe407Leu) c.498C>G (p.Phe166Leu) c.281C>G c.846C>G (p.Phe282Leu) n.715C>G c.438C>G (p.Phe146Leu) n.1336C>G c.*346+1443C>G (n.*346+1443C>G) c.*540C>G (n.*540C>G) c.1089C>G (p.Phe363Leu) c.989C>G (n.989C>G) c.1086C>G (p.Phe362Leu) n.954C>G c.273C>G (p.Phe91Leu) c.*461C>G (n.*461C>G) c.849C>G (p.Phe283Leu) c.1209C>G (p.Phe403Leu) c.1206C>G (p.Phe402Leu) c.474C>G (p.Phe158Leu) | |
| 7 | g.151568728G>T | CA370071429 | PRKAG2 | c.495C>A (p.Phe165Leu) c.1218C>A (p.Phe406Leu) c.1221C>A (p.Phe407Leu) c.498C>A (p.Phe166Leu) c.281C>A c.846C>A (p.Phe282Leu) n.715C>A c.438C>A (p.Phe146Leu) n.1336C>A c.*346+1443C>A (n.*346+1443C>A) c.*540C>A (n.*540C>A) c.1089C>A (p.Phe363Leu) c.989C>A (n.989C>A) c.1086C>A (p.Phe362Leu) n.954C>A c.273C>A (p.Phe91Leu) c.*461C>A (n.*461C>A) c.849C>A (p.Phe283Leu) c.1209C>A (p.Phe403Leu) c.1206C>A (p.Phe402Leu) c.474C>A (p.Phe158Leu) | |
| 7 | g.151568729A>C | CA370071430 | PRKAG2 | c.494T>G (p.Phe165Cys) c.1217T>G (p.Phe406Cys) c.1220T>G (p.Phe407Cys) c.497T>G (p.Phe166Cys) c.280T>G c.845T>G (p.Phe282Cys) n.714T>G c.437T>G (p.Phe146Cys) n.1335T>G c.*346+1442T>G (n.*346+1442T>G) c.*539T>G (n.*539T>G) c.1088T>G (p.Phe363Cys) c.988T>G (n.988T>G) c.1085T>G (p.Phe362Cys) n.953T>G c.272T>G (p.Phe91Cys) c.*460T>G (n.*460T>G) c.848T>G (p.Phe283Cys) c.1208T>G (p.Phe403Cys) c.1205T>G (p.Phe402Cys) c.473T>G (p.Phe158Cys) | |
| 7 | g.151568729A>G | CA370071431 | PRKAG2 | c.494T>C (p.Phe165Ser) c.1217T>C (p.Phe406Ser) c.1220T>C (p.Phe407Ser) c.497T>C (p.Phe166Ser) c.280T>C c.845T>C (p.Phe282Ser) n.714T>C c.437T>C (p.Phe146Ser) n.1335T>C c.*346+1442T>C (n.*346+1442T>C) c.*539T>C (n.*539T>C) c.1088T>C (p.Phe363Ser) c.988T>C (n.988T>C) c.1085T>C (p.Phe362Ser) n.953T>C c.272T>C (p.Phe91Ser) c.*460T>C (n.*460T>C) c.848T>C (p.Phe283Ser) c.1208T>C (p.Phe403Ser) c.1205T>C (p.Phe402Ser) c.473T>C (p.Phe158Ser) | |
| 7 | g.151568729A>T | CA370071432 | PRKAG2 | c.494T>A (p.Phe165Tyr) c.1217T>A (p.Phe406Tyr) c.1220T>A (p.Phe407Tyr) c.497T>A (p.Phe166Tyr) c.280T>A c.845T>A (p.Phe282Tyr) n.714T>A c.437T>A (p.Phe146Tyr) n.1335T>A c.*346+1442T>A (n.*346+1442T>A) c.*539T>A (n.*539T>A) c.1088T>A (p.Phe363Tyr) c.988T>A (n.988T>A) c.1085T>A (p.Phe362Tyr) n.953T>A c.272T>A (p.Phe91Tyr) c.*460T>A (n.*460T>A) c.848T>A (p.Phe283Tyr) c.1208T>A (p.Phe403Tyr) c.1205T>A (p.Phe402Tyr) c.473T>A (p.Phe158Tyr) | |
| 7 | g.151568730A>C | CA370071433 | PRKAG2 | c.493T>G (p.Phe165Val) c.1216T>G (p.Phe406Val) c.1219T>G (p.Phe407Val) c.496T>G (p.Phe166Val) c.279T>G c.844T>G (p.Phe282Val) n.713T>G c.436T>G (p.Phe146Val) n.1334T>G c.*346+1441T>G (n.*346+1441T>G) c.*538T>G (n.*538T>G) c.1087T>G (p.Phe363Val) c.987T>G (n.987T>G) c.1084T>G (p.Phe362Val) n.952T>G c.271T>G (p.Phe91Val) c.*459T>G (n.*459T>G) c.847T>G (p.Phe283Val) c.1207T>G (p.Phe403Val) c.1204T>G (p.Phe402Val) c.472T>G (p.Phe158Val) | |
| 7 | g.151568730A>G | CA370071435 | PRKAG2 | c.493T>C (p.Phe165Leu) c.1216T>C (p.Phe406Leu) c.1219T>C (p.Phe407Leu) c.496T>C (p.Phe166Leu) c.279T>C c.844T>C (p.Phe282Leu) n.713T>C c.436T>C (p.Phe146Leu) n.1334T>C c.*346+1441T>C (n.*346+1441T>C) c.*538T>C (n.*538T>C) c.1087T>C (p.Phe363Leu) c.987T>C (n.987T>C) c.1084T>C (p.Phe362Leu) n.952T>C c.271T>C (p.Phe91Leu) c.*459T>C (n.*459T>C) c.847T>C (p.Phe283Leu) c.1207T>C (p.Phe403Leu) c.1204T>C (p.Phe402Leu) c.472T>C (p.Phe158Leu) | |
| 7 | g.151568730A>T | CA370071434 | PRKAG2 | c.493T>A (p.Phe165Ile) c.1216T>A (p.Phe406Ile) c.1219T>A (p.Phe407Ile) c.496T>A (p.Phe166Ile) c.279T>A c.844T>A (p.Phe282Ile) n.713T>A c.436T>A (p.Phe146Ile) n.1334T>A c.*346+1441T>A (n.*346+1441T>A) c.*538T>A (n.*538T>A) c.1087T>A (p.Phe363Ile) c.987T>A (n.987T>A) c.1084T>A (p.Phe362Ile) n.952T>A c.271T>A (p.Phe91Ile) c.*459T>A (n.*459T>A) c.847T>A (p.Phe283Ile) c.1207T>A (p.Phe403Ile) c.1204T>A (p.Phe402Ile) c.472T>A (p.Phe158Ile) | |
| 7 | g.151568731C>A | CA370071436 | PRKAG2 | c.492G>T (p.Lys164Asn) c.1215G>T (p.Lys405Asn) c.1218G>T (p.Lys406Asn) c.495G>T (p.Lys165Asn) c.278G>T c.843G>T (p.Lys281Asn) n.712G>T c.435G>T (p.Lys145Asn) n.1333G>T c.*346+1440G>T (n.*346+1440G>T) c.*537G>T (n.*537G>T) c.1086G>T (p.Lys362Asn) c.986G>T (n.986G>T) c.1083G>T (p.Lys361Asn) n.951G>T c.270G>T (p.Lys90Asn) c.*458G>T (n.*458G>T) c.846G>T (p.Lys282Asn) c.1206G>T (p.Lys402Asn) c.1203G>T (p.Lys401Asn) c.471G>T (p.Lys157Asn) | |
| 7 | g.151568731C>G | CA370071437 | PRKAG2 | c.492G>C (p.Lys164Asn) c.1215G>C (p.Lys405Asn) c.1218G>C (p.Lys406Asn) c.495G>C (p.Lys165Asn) c.278G>C c.843G>C (p.Lys281Asn) n.712G>C c.435G>C (p.Lys145Asn) n.1333G>C c.*346+1440G>C (n.*346+1440G>C) c.*537G>C (n.*537G>C) c.1086G>C (p.Lys362Asn) c.986G>C (n.986G>C) c.1083G>C (p.Lys361Asn) n.951G>C c.270G>C (p.Lys90Asn) c.*458G>C (n.*458G>C) c.846G>C (p.Lys282Asn) c.1206G>C (p.Lys402Asn) c.1203G>C (p.Lys401Asn) c.471G>C (p.Lys157Asn) | |
| 7 | g.151568731C>T | CA458668696 | PRKAG2 | c.492G>A (p.Lys164=) c.1215G>A (p.Lys405=) c.1218G>A (p.Lys406=) c.495G>A (p.Lys165=) c.278G>A c.843G>A (p.Lys281=) n.712G>A c.435G>A (p.Lys145=) n.1333G>A c.*346+1440G>A (n.*346+1440G>A) c.*537G>A (n.*537G>A) c.1086G>A (p.Lys362=) c.986G>A (n.986G>A) c.1083G>A (p.Lys361=) n.951G>A c.270G>A (p.Lys90=) c.*458G>A (n.*458G>A) c.846G>A (p.Lys282=) c.1206G>A (p.Lys402=) c.1203G>A (p.Lys401=) c.471G>A (p.Lys157=) | |
| 7 | g.151568732T>A | CA370071438 | PRKAG2 | c.491A>T (p.Lys164Met) c.1214A>T (p.Lys405Met) c.1217A>T (p.Lys406Met) c.494A>T (p.Lys165Met) c.277A>T c.842A>T (p.Lys281Met) n.711A>T c.434A>T (p.Lys145Met) n.1332A>T c.*346+1439A>T (n.*346+1439A>T) c.*536A>T (n.*536A>T) c.1085A>T (p.Lys362Met) c.985A>T (n.985A>T) c.1082A>T (p.Lys361Met) n.950A>T c.269A>T (p.Lys90Met) c.*457A>T (n.*457A>T) c.845A>T (p.Lys282Met) c.1205A>T (p.Lys402Met) c.1202A>T (p.Lys401Met) c.470A>T (p.Lys157Met) | |
| 7 | g.151568732T>C | CA370071439 | PRKAG2 | c.491A>G (p.Lys164Arg) c.1214A>G (p.Lys405Arg) c.1217A>G (p.Lys406Arg) c.494A>G (p.Lys165Arg) c.277A>G c.842A>G (p.Lys281Arg) n.711A>G c.434A>G (p.Lys145Arg) n.1332A>G c.*346+1439A>G (n.*346+1439A>G) c.*536A>G (n.*536A>G) c.1085A>G (p.Lys362Arg) c.985A>G (n.985A>G) c.1082A>G (p.Lys361Arg) n.950A>G c.269A>G (p.Lys90Arg) c.*457A>G (n.*457A>G) c.845A>G (p.Lys282Arg) c.1205A>G (p.Lys402Arg) c.1202A>G (p.Lys401Arg) c.470A>G (p.Lys157Arg) | gnomAD v4 |
| 7 | g.151568732T>G | CA370071440 | PRKAG2 | c.491A>C (p.Lys164Thr) c.1214A>C (p.Lys405Thr) c.1217A>C (p.Lys406Thr) c.494A>C (p.Lys165Thr) c.277A>C c.842A>C (p.Lys281Thr) n.711A>C c.434A>C (p.Lys145Thr) n.1332A>C c.*346+1439A>C (n.*346+1439A>C) c.*536A>C (n.*536A>C) c.1085A>C (p.Lys362Thr) c.985A>C (n.985A>C) c.1082A>C (p.Lys361Thr) n.950A>C c.269A>C (p.Lys90Thr) c.*457A>C (n.*457A>C) c.845A>C (p.Lys282Thr) c.1205A>C (p.Lys402Thr) c.1202A>C (p.Lys401Thr) c.470A>C (p.Lys157Thr) | |
| 7 | g.151568733T>A | CA370071441 | PRKAG2 | c.490A>T (p.Lys164Ter) c.1213A>T (p.Lys405Ter) c.1216A>T (p.Lys406Ter) c.493A>T (p.Lys165Ter) c.276A>T c.841A>T (p.Lys281Ter) n.710A>T c.433A>T (p.Lys145Ter) n.1331A>T c.*346+1438A>T (n.*346+1438A>T) c.*535A>T (n.*535A>T) c.1084A>T (p.Lys362Ter) c.984A>T (n.984A>T) c.1081A>T (p.Lys361Ter) n.949A>T c.268A>T (p.Lys90Ter) c.*456A>T (n.*456A>T) c.844A>T (p.Lys282Ter) c.1204A>T (p.Lys402Ter) c.1201A>T (p.Lys401Ter) c.469A>T (p.Lys157Ter) | |
| 7 | g.151568733T>C | CA370071442 | PRKAG2 | c.490A>G (p.Lys164Glu) c.1213A>G (p.Lys405Glu) c.1216A>G (p.Lys406Glu) c.493A>G (p.Lys165Glu) c.276A>G c.841A>G (p.Lys281Glu) n.710A>G c.433A>G (p.Lys145Glu) n.1331A>G c.*346+1438A>G (n.*346+1438A>G) c.*535A>G (n.*535A>G) c.1084A>G (p.Lys362Glu) c.984A>G (n.984A>G) c.1081A>G (p.Lys361Glu) n.949A>G c.268A>G (p.Lys90Glu) c.*456A>G (n.*456A>G) c.844A>G (p.Lys282Glu) c.1204A>G (p.Lys402Glu) c.1201A>G (p.Lys401Glu) c.469A>G (p.Lys157Glu) | |
| 7 | g.151568733T>G | CA370071443 | PRKAG2 | c.490A>C (p.Lys164Gln) c.1213A>C (p.Lys405Gln) c.1216A>C (p.Lys406Gln) c.493A>C (p.Lys165Gln) c.276A>C c.841A>C (p.Lys281Gln) n.710A>C c.433A>C (p.Lys145Gln) n.1331A>C c.*346+1438A>C (n.*346+1438A>C) c.*535A>C (n.*535A>C) c.1084A>C (p.Lys362Gln) c.984A>C (n.984A>C) c.1081A>C (p.Lys361Gln) n.949A>C c.268A>C (p.Lys90Gln) c.*456A>C (n.*456A>C) c.844A>C (p.Lys282Gln) c.1204A>C (p.Lys402Gln) c.1201A>C (p.Lys401Gln) c.469A>C (p.Lys157Gln) | |
| 7 | g.151568734G>A | CA458668711 | PRKAG2 | c.489C>T (p.Leu163=) c.1212C>T (p.Leu404=) c.1215C>T (p.Leu405=) c.492C>T (p.Leu164=) c.275C>T c.840C>T (p.Leu280=) n.709C>T c.432C>T (p.Leu144=) n.1330C>T c.*346+1437C>T (n.*346+1437C>T) c.*534C>T (n.*534C>T) c.1083C>T (p.Leu361=) c.983C>T (n.983C>T) c.1080C>T (p.Leu360=) n.948C>T c.267C>T (p.Leu89=) c.*455C>T (n.*455C>T) c.843C>T (p.Leu281=) c.1203C>T (p.Leu401=) c.1200C>T (p.Leu400=) c.468C>T (p.Leu156=) | ClinVar dbSNP |
| 7 | g.151568734G>C | CA458668713 | PRKAG2 | c.489C>G (p.Leu163=) c.1212C>G (p.Leu404=) c.1215C>G (p.Leu405=) c.492C>G (p.Leu164=) c.275C>G c.840C>G (p.Leu280=) n.709C>G c.432C>G (p.Leu144=) n.1330C>G c.*346+1437C>G (n.*346+1437C>G) c.*534C>G (n.*534C>G) c.1083C>G (p.Leu361=) c.983C>G (n.983C>G) c.1080C>G (p.Leu360=) n.948C>G c.267C>G (p.Leu89=) c.*455C>G (n.*455C>G) c.843C>G (p.Leu281=) c.1203C>G (p.Leu401=) c.1200C>G (p.Leu400=) c.468C>G (p.Leu156=) | |
| 7 | g.151568734G= | CA1752725452 | PRKAG2 | c.489C= (p.Leu163=) c.1212C= (p.Leu404=) c.1215C= (p.Leu405=) c.492C= (p.Leu164=) c.275C= c.840C= (p.Leu280=) n.709C= c.432C= (p.Leu144=) n.1330C= c.*346+1437C= (n.*346+1437C=) c.*534C= (n.*534C=) c.1083C= (p.Leu361=) c.983C= (n.983C=) c.1080C= (p.Leu360=) n.948C= c.267C= (p.Leu89=) c.*455C= (n.*455C=) c.843C= (p.Leu281=) c.1203C= (p.Leu401=) c.1200C= (p.Leu400=) c.468C= (p.Leu156=) | |
| 7 | g.151568734G>T | CA458668715 | PRKAG2 | c.489C>A (p.Leu163=) c.1212C>A (p.Leu404=) c.1215C>A (p.Leu405=) c.492C>A (p.Leu164=) c.275C>A c.840C>A (p.Leu280=) n.709C>A c.432C>A (p.Leu144=) n.1330C>A c.*346+1437C>A (n.*346+1437C>A) c.*534C>A (n.*534C>A) c.1083C>A (p.Leu361=) c.983C>A (n.983C>A) c.1080C>A (p.Leu360=) n.948C>A c.267C>A (p.Leu89=) c.*455C>A (n.*455C>A) c.843C>A (p.Leu281=) c.1203C>A (p.Leu401=) c.1200C>A (p.Leu400=) c.468C>A (p.Leu156=) | |
| 7 | g.151568735A>C | CA370071444 | PRKAG2 | c.488T>G (p.Leu163Arg) c.1211T>G (p.Leu404Arg) c.1214T>G (p.Leu405Arg) c.491T>G (p.Leu164Arg) c.274T>G c.839T>G (p.Leu280Arg) n.708T>G c.431T>G (p.Leu144Arg) n.1329T>G c.*346+1436T>G (n.*346+1436T>G) c.*533T>G (n.*533T>G) c.1082T>G (p.Leu361Arg) c.982T>G (n.982T>G) c.1079T>G (p.Leu360Arg) n.947T>G c.266T>G (p.Leu89Arg) c.*454T>G (n.*454T>G) c.842T>G (p.Leu281Arg) c.1202T>G (p.Leu401Arg) c.1199T>G (p.Leu400Arg) c.467T>G (p.Leu156Arg) | |
| 7 | g.151568735A>G | CA370071445 | PRKAG2 | c.488T>C (p.Leu163Pro) c.1211T>C (p.Leu404Pro) c.1214T>C (p.Leu405Pro) c.491T>C (p.Leu164Pro) c.274T>C c.839T>C (p.Leu280Pro) n.708T>C c.431T>C (p.Leu144Pro) n.1329T>C c.*346+1436T>C (n.*346+1436T>C) c.*533T>C (n.*533T>C) c.1082T>C (p.Leu361Pro) c.982T>C (n.982T>C) c.1079T>C (p.Leu360Pro) n.947T>C c.266T>C (p.Leu89Pro) c.*454T>C (n.*454T>C) c.842T>C (p.Leu281Pro) c.1202T>C (p.Leu401Pro) c.1199T>C (p.Leu400Pro) c.467T>C (p.Leu156Pro) | |
| 7 | g.151568735A>T | CA370071446 | PRKAG2 | c.488T>A (p.Leu163His) c.1211T>A (p.Leu404His) c.1214T>A (p.Leu405His) c.491T>A (p.Leu164His) c.274T>A c.839T>A (p.Leu280His) n.708T>A c.431T>A (p.Leu144His) n.1329T>A c.*346+1436T>A (n.*346+1436T>A) c.*533T>A (n.*533T>A) c.1082T>A (p.Leu361His) c.982T>A (n.982T>A) c.1079T>A (p.Leu360His) n.947T>A c.266T>A (p.Leu89His) c.*454T>A (n.*454T>A) c.842T>A (p.Leu281His) c.1202T>A (p.Leu401His) c.1199T>A (p.Leu400His) c.467T>A (p.Leu156His) | |
| 7 | g.151568736G>A | CA370071447 | PRKAG2 | c.487C>T (p.Leu163Phe) c.1210C>T (p.Leu404Phe) c.1213C>T (p.Leu405Phe) c.490C>T (p.Leu164Phe) c.273C>T c.838C>T (p.Leu280Phe) n.707C>T c.430C>T (p.Leu144Phe) n.1328C>T c.*346+1435C>T (n.*346+1435C>T) c.*532C>T (n.*532C>T) c.1081C>T (p.Leu361Phe) c.981C>T (n.981C>T) c.1078C>T (p.Leu360Phe) n.946C>T c.265C>T (p.Leu89Phe) c.*453C>T (n.*453C>T) c.841C>T (p.Leu281Phe) c.1201C>T (p.Leu401Phe) c.1198C>T (p.Leu400Phe) c.466C>T (p.Leu156Phe) | |
| 7 | g.151568736G>C | CA370071449 | PRKAG2 | c.487C>G (p.Leu163Val) c.1210C>G (p.Leu404Val) c.1213C>G (p.Leu405Val) c.490C>G (p.Leu164Val) c.273C>G c.838C>G (p.Leu280Val) n.707C>G c.430C>G (p.Leu144Val) n.1328C>G c.*346+1435C>G (n.*346+1435C>G) c.*532C>G (n.*532C>G) c.1081C>G (p.Leu361Val) c.981C>G (n.981C>G) c.1078C>G (p.Leu360Val) n.946C>G c.265C>G (p.Leu89Val) c.*453C>G (n.*453C>G) c.841C>G (p.Leu281Val) c.1201C>G (p.Leu401Val) c.1198C>G (p.Leu400Val) c.466C>G (p.Leu156Val) | |
| 7 | g.151568736G>T | CA370071448 | PRKAG2 | c.487C>A (p.Leu163Ile) c.1210C>A (p.Leu404Ile) c.1213C>A (p.Leu405Ile) c.490C>A (p.Leu164Ile) c.273C>A c.838C>A (p.Leu280Ile) n.707C>A c.430C>A (p.Leu144Ile) n.1328C>A c.*346+1435C>A (n.*346+1435C>A) c.*532C>A (n.*532C>A) c.1081C>A (p.Leu361Ile) c.981C>A (n.981C>A) c.1078C>A (p.Leu360Ile) n.946C>A c.265C>A (p.Leu89Ile) c.*453C>A (n.*453C>A) c.841C>A (p.Leu281Ile) c.1201C>A (p.Leu401Ile) c.1198C>A (p.Leu400Ile) c.466C>A (p.Leu156Ile) |