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.151568715C>A | CA370071397 | PRKAG2 | c.507+1G>T (n.507+1G>T) c.1230+1G>T (n.1230+1G>T) c.1233+1G>T (n.1233+1G>T) c.510+1G>T (n.510+1G>T) c.293+1G>T c.858+1G>T (n.858+1G>T) n.727+1G>T c.450+1G>T (n.450+1G>T) n.1348+1G>T c.*346+1456G>T (n.*346+1456G>T) c.*552+1G>T (n.*552+1G>T) c.1101+1G>T (n.1101+1G>T) c.1001+1G>T (n.1001+1G>T) c.1098+1G>T (n.1098+1G>T) n.966+1G>T c.285+1G>T (n.285+1G>T) c.*474G>T (n.*474G>T) c.861+1G>T (n.861+1G>T) c.1221+1G>T (n.1221+1G>T) c.1218+1G>T (n.1218+1G>T) c.486+1G>T (n.486+1G>T) | |
| 7 | g.151568715C>G | CA370071398 | PRKAG2 | c.507+1G>C (n.507+1G>C) c.1230+1G>C (n.1230+1G>C) c.1233+1G>C (n.1233+1G>C) c.510+1G>C (n.510+1G>C) c.293+1G>C c.858+1G>C (n.858+1G>C) n.727+1G>C c.450+1G>C (n.450+1G>C) n.1348+1G>C c.*346+1456G>C (n.*346+1456G>C) c.*552+1G>C (n.*552+1G>C) c.1101+1G>C (n.1101+1G>C) c.1001+1G>C (n.1001+1G>C) c.1098+1G>C (n.1098+1G>C) n.966+1G>C c.285+1G>C (n.285+1G>C) c.*474G>C (n.*474G>C) c.861+1G>C (n.861+1G>C) c.1221+1G>C (n.1221+1G>C) c.1218+1G>C (n.1218+1G>C) c.486+1G>C (n.486+1G>C) | ClinVar |
| 7 | g.151568715C>T | CA370071399 | PRKAG2 | c.507+1G>A (n.507+1G>A) c.1230+1G>A (n.1230+1G>A) c.1233+1G>A (n.1233+1G>A) c.510+1G>A (n.510+1G>A) c.293+1G>A c.858+1G>A (n.858+1G>A) n.727+1G>A c.450+1G>A (n.450+1G>A) n.1348+1G>A c.*346+1456G>A (n.*346+1456G>A) c.*552+1G>A (n.*552+1G>A) c.1101+1G>A (n.1101+1G>A) c.1001+1G>A (n.1001+1G>A) c.1098+1G>A (n.1098+1G>A) n.966+1G>A c.285+1G>A (n.285+1G>A) c.*474G>A (n.*474G>A) c.861+1G>A (n.861+1G>A) c.1221+1G>A (n.1221+1G>A) c.1218+1G>A (n.1218+1G>A) c.486+1G>A (n.486+1G>A) | |
| 7 | g.151568716A= | CA1752725438 | PRKAG2 | c.507T= (p.Phe169=) c.1230T= (p.Phe410=) c.1233T= (p.Phe411=) c.510T= (p.Phe170=) c.293T= c.858T= (p.Phe286=) n.727T= c.450T= (p.Phe150=) n.1348T= c.*346+1455T= (n.*346+1455T=) c.*552T= (n.*552T=) c.1101T= (p.Phe367=) c.1001T= (n.1001T=) c.1098T= (p.Phe366=) n.966T= c.285T= (p.Phe95=) c.*473T= (n.*473T=) c.861T= (p.Phe287=) c.1221T= (p.Phe407=) c.1218T= (p.Phe406=) c.486T= (p.Phe162=) | |
| 7 | g.151568716A>C | CA370071401 | PRKAG2 | c.507T>G (p.Phe169Leu) c.1230T>G (p.Phe410Leu) c.1233T>G (p.Phe411Leu) c.510T>G (p.Phe170Leu) c.293T>G c.858T>G (p.Phe286Leu) n.727T>G c.450T>G (p.Phe150Leu) n.1348T>G c.*346+1455T>G (n.*346+1455T>G) c.*552T>G (n.*552T>G) c.1101T>G (p.Phe367Leu) c.1001T>G (n.1001T>G) c.1098T>G (p.Phe366Leu) n.966T>G c.285T>G (p.Phe95Leu) c.*473T>G (n.*473T>G) c.861T>G (p.Phe287Leu) c.1221T>G (p.Phe407Leu) c.1218T>G (p.Phe406Leu) c.486T>G (p.Phe162Leu) | |
| 7 | g.151568716A>G | CA054441 | PRKAG2 | c.507T>C (p.Phe169=) c.1230T>C (p.Phe410=) c.1233T>C (p.Phe411=) c.510T>C (p.Phe170=) c.293T>C c.858T>C (p.Phe286=) n.727T>C c.450T>C (p.Phe150=) n.1348T>C c.*346+1455T>C (n.*346+1455T>C) c.*552T>C (n.*552T>C) c.1101T>C (p.Phe367=) c.1001T>C (n.1001T>C) c.1098T>C (p.Phe366=) n.966T>C c.285T>C (p.Phe95=) c.*473T>C (n.*473T>C) c.861T>C (p.Phe287=) c.1221T>C (p.Phe407=) c.1218T>C (p.Phe406=) c.486T>C (p.Phe162=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.151568716A>T | CA370071400 | PRKAG2 | c.507T>A (p.Phe169Leu) c.1230T>A (p.Phe410Leu) c.1233T>A (p.Phe411Leu) c.510T>A (p.Phe170Leu) c.293T>A c.858T>A (p.Phe286Leu) n.727T>A c.450T>A (p.Phe150Leu) n.1348T>A c.*346+1455T>A (n.*346+1455T>A) c.*552T>A (n.*552T>A) c.1101T>A (p.Phe367Leu) c.1001T>A (n.1001T>A) c.1098T>A (p.Phe366Leu) n.966T>A c.285T>A (p.Phe95Leu) c.*473T>A (n.*473T>A) c.861T>A (p.Phe287Leu) c.1221T>A (p.Phe407Leu) c.1218T>A (p.Phe406Leu) c.486T>A (p.Phe162Leu) | |
| 7 | g.151568717A>C | CA370071402 | PRKAG2 | c.506T>G (p.Phe169Cys) c.1229T>G (p.Phe410Cys) c.1232T>G (p.Phe411Cys) c.509T>G (p.Phe170Cys) c.292T>G c.857T>G (p.Phe286Cys) n.726T>G c.449T>G (p.Phe150Cys) n.1347T>G c.*346+1454T>G (n.*346+1454T>G) c.*551T>G (n.*551T>G) c.1100T>G (p.Phe367Cys) c.1000T>G (n.1000T>G) c.1097T>G (p.Phe366Cys) n.965T>G c.284T>G (p.Phe95Cys) c.*472T>G (n.*472T>G) c.860T>G (p.Phe287Cys) c.1220T>G (p.Phe407Cys) c.1217T>G (p.Phe406Cys) c.485T>G (p.Phe162Cys) | |
| 7 | g.151568717A>G | CA370071403 | PRKAG2 | c.506T>C (p.Phe169Ser) c.1229T>C (p.Phe410Ser) c.1232T>C (p.Phe411Ser) c.509T>C (p.Phe170Ser) c.292T>C c.857T>C (p.Phe286Ser) n.726T>C c.449T>C (p.Phe150Ser) n.1347T>C c.*346+1454T>C (n.*346+1454T>C) c.*551T>C (n.*551T>C) c.1100T>C (p.Phe367Ser) c.1000T>C (n.1000T>C) c.1097T>C (p.Phe366Ser) n.965T>C c.284T>C (p.Phe95Ser) c.*472T>C (n.*472T>C) c.860T>C (p.Phe287Ser) c.1220T>C (p.Phe407Ser) c.1217T>C (p.Phe406Ser) c.485T>C (p.Phe162Ser) | |
| 7 | g.151568717A>T | CA370071404 | PRKAG2 | c.506T>A (p.Phe169Tyr) c.1229T>A (p.Phe410Tyr) c.1232T>A (p.Phe411Tyr) c.509T>A (p.Phe170Tyr) c.292T>A c.857T>A (p.Phe286Tyr) n.726T>A c.449T>A (p.Phe150Tyr) n.1347T>A c.*346+1454T>A (n.*346+1454T>A) c.*551T>A (n.*551T>A) c.1100T>A (p.Phe367Tyr) c.1000T>A (n.1000T>A) c.1097T>A (p.Phe366Tyr) n.965T>A c.284T>A (p.Phe95Tyr) c.*472T>A (n.*472T>A) c.860T>A (p.Phe287Tyr) c.1220T>A (p.Phe407Tyr) c.1217T>A (p.Phe406Tyr) c.485T>A (p.Phe162Tyr) | |
| 7 | g.151568718A>C | CA370071405 | PRKAG2 | c.505T>G (p.Phe169Val) c.1228T>G (p.Phe410Val) c.1231T>G (p.Phe411Val) c.508T>G (p.Phe170Val) c.291T>G c.856T>G (p.Phe286Val) n.725T>G c.448T>G (p.Phe150Val) n.1346T>G c.*346+1453T>G (n.*346+1453T>G) c.*550T>G (n.*550T>G) c.1099T>G (p.Phe367Val) c.999T>G (n.999T>G) c.1096T>G (p.Phe366Val) n.964T>G c.283T>G (p.Phe95Val) c.*471T>G (n.*471T>G) c.859T>G (p.Phe287Val) c.1219T>G (p.Phe407Val) c.1216T>G (p.Phe406Val) c.484T>G (p.Phe162Val) | |
| 7 | g.151568718A>G | CA370071406 | PRKAG2 | c.505T>C (p.Phe169Leu) c.1228T>C (p.Phe410Leu) c.1231T>C (p.Phe411Leu) c.508T>C (p.Phe170Leu) c.291T>C c.856T>C (p.Phe286Leu) n.725T>C c.448T>C (p.Phe150Leu) n.1346T>C c.*346+1453T>C (n.*346+1453T>C) c.*550T>C (n.*550T>C) c.1099T>C (p.Phe367Leu) c.999T>C (n.999T>C) c.1096T>C (p.Phe366Leu) n.964T>C c.283T>C (p.Phe95Leu) c.*471T>C (n.*471T>C) c.859T>C (p.Phe287Leu) c.1219T>C (p.Phe407Leu) c.1216T>C (p.Phe406Leu) c.484T>C (p.Phe162Leu) | |
| 7 | g.151568718A>T | CA370071407 | PRKAG2 | c.505T>A (p.Phe169Ile) c.1228T>A (p.Phe410Ile) c.1231T>A (p.Phe411Ile) c.508T>A (p.Phe170Ile) c.291T>A c.856T>A (p.Phe286Ile) n.725T>A c.448T>A (p.Phe150Ile) n.1346T>A c.*346+1453T>A (n.*346+1453T>A) c.*550T>A (n.*550T>A) c.1099T>A (p.Phe367Ile) c.999T>A (n.999T>A) c.1096T>A (p.Phe366Ile) n.964T>A c.283T>A (p.Phe95Ile) c.*471T>A (n.*471T>A) c.859T>A (p.Phe287Ile) c.1219T>A (p.Phe407Ile) c.1216T>A (p.Phe406Ile) c.484T>A (p.Phe162Ile) | |
| 7 | g.151568719A>C | CA458668609 | PRKAG2 | c.504T>G (p.Leu168=) c.1227T>G (p.Leu409=) c.1230T>G (p.Leu410=) c.507T>G (p.Leu169=) c.290T>G c.855T>G (p.Leu285=) n.724T>G c.447T>G (p.Leu149=) n.1345T>G c.*346+1452T>G (n.*346+1452T>G) c.*549T>G (n.*549T>G) c.1098T>G (p.Leu366=) c.998T>G (n.998T>G) c.1095T>G (p.Leu365=) n.963T>G c.282T>G (p.Leu94=) c.*470T>G (n.*470T>G) c.858T>G (p.Leu286=) c.1218T>G (p.Leu406=) c.1215T>G (p.Leu405=) c.483T>G (p.Leu161=) | COSMIC COSMIC |
| 7 | g.151568719A>G | CA458668612 | PRKAG2 | c.504T>C (p.Leu168=) c.1227T>C (p.Leu409=) c.1230T>C (p.Leu410=) c.507T>C (p.Leu169=) c.290T>C c.855T>C (p.Leu285=) n.724T>C c.447T>C (p.Leu149=) n.1345T>C c.*346+1452T>C (n.*346+1452T>C) c.*549T>C (n.*549T>C) c.1098T>C (p.Leu366=) c.998T>C (n.998T>C) c.1095T>C (p.Leu365=) n.963T>C c.282T>C (p.Leu94=) c.*470T>C (n.*470T>C) c.858T>C (p.Leu286=) c.1218T>C (p.Leu406=) c.1215T>C (p.Leu405=) c.483T>C (p.Leu161=) | |
| 7 | g.151568719A>T | CA458668614 | PRKAG2 | c.504T>A (p.Leu168=) c.1227T>A (p.Leu409=) c.1230T>A (p.Leu410=) c.507T>A (p.Leu169=) c.290T>A c.855T>A (p.Leu285=) n.724T>A c.447T>A (p.Leu149=) n.1345T>A c.*346+1452T>A (n.*346+1452T>A) c.*549T>A (n.*549T>A) c.1098T>A (p.Leu366=) c.998T>A (n.998T>A) c.1095T>A (p.Leu365=) n.963T>A c.282T>A (p.Leu94=) c.*470T>A (n.*470T>A) c.858T>A (p.Leu286=) c.1218T>A (p.Leu406=) c.1215T>A (p.Leu405=) c.483T>A (p.Leu161=) | |
| 7 | g.151568720A>C | CA370071408 | PRKAG2 | c.503T>G (p.Leu168Arg) c.1226T>G (p.Leu409Arg) c.1229T>G (p.Leu410Arg) c.506T>G (p.Leu169Arg) c.289T>G c.854T>G (p.Leu285Arg) n.723T>G c.446T>G (p.Leu149Arg) n.1344T>G c.*346+1451T>G (n.*346+1451T>G) c.*548T>G (n.*548T>G) c.1097T>G (p.Leu366Arg) c.997T>G (n.997T>G) c.1094T>G (p.Leu365Arg) n.962T>G c.281T>G (p.Leu94Arg) c.*469T>G (n.*469T>G) c.857T>G (p.Leu286Arg) c.1217T>G (p.Leu406Arg) c.1214T>G (p.Leu405Arg) c.482T>G (p.Leu161Arg) | |
| 7 | g.151568720A>G | CA370071409 | PRKAG2 | c.503T>C (p.Leu168Pro) c.1226T>C (p.Leu409Pro) c.1229T>C (p.Leu410Pro) c.506T>C (p.Leu169Pro) c.289T>C c.854T>C (p.Leu285Pro) n.723T>C c.446T>C (p.Leu149Pro) n.1344T>C c.*346+1451T>C (n.*346+1451T>C) c.*548T>C (n.*548T>C) c.1097T>C (p.Leu366Pro) c.997T>C (n.997T>C) c.1094T>C (p.Leu365Pro) n.962T>C c.281T>C (p.Leu94Pro) c.*469T>C (n.*469T>C) c.857T>C (p.Leu286Pro) c.1217T>C (p.Leu406Pro) c.1214T>C (p.Leu405Pro) c.482T>C (p.Leu161Pro) | |
| 7 | g.151568720A>T | CA370071410 | PRKAG2 | c.503T>A (p.Leu168His) c.1226T>A (p.Leu409His) c.1229T>A (p.Leu410His) c.506T>A (p.Leu169His) c.289T>A c.854T>A (p.Leu285His) n.723T>A c.446T>A (p.Leu149His) n.1344T>A c.*346+1451T>A (n.*346+1451T>A) c.*548T>A (n.*548T>A) c.1097T>A (p.Leu366His) c.997T>A (n.997T>A) c.1094T>A (p.Leu365His) n.962T>A c.281T>A (p.Leu94His) c.*469T>A (n.*469T>A) c.857T>A (p.Leu286His) c.1217T>A (p.Leu406His) c.1214T>A (p.Leu405His) c.482T>A (p.Leu161His) | |
| 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) |