Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
7	g.151568737G>A	CA458668730	PRKAG2	c.486C>T (p.Ile162=) c.1209C>T (p.Ile403=) c.1212C>T (p.Ile404=) c.489C>T (p.Ile163=) c.272C>T c.837C>T (p.Ile279=) n.706C>T c.429C>T (p.Ile143=) n.1327C>T c.346+1434C>T (n.346+1434C>T) c.531C>T (n.531C>T) c.1080C>T (p.Ile360=) c.980C>T (n.980C>T) c.1077C>T (p.Ile359=) n.945C>T c.264C>T (p.Ile88=) c.452C>T (n.452C>T) c.840C>T (p.Ile280=) c.1200C>T (p.Ile400=) c.1197C>T (p.Ile399=) c.465C>T (p.Ile155=)
7	g.151568737G>C	CA10576721	PRKAG2	c.486C>G (p.Ile162Met) c.1209C>G (p.Ile403Met) c.1212C>G (p.Ile404Met) c.489C>G (p.Ile163Met) c.272C>G c.837C>G (p.Ile279Met) n.706C>G c.429C>G (p.Ile143Met) n.1327C>G c.346+1434C>G (n.346+1434C>G) c.531C>G (n.531C>G) c.1080C>G (p.Ile360Met) c.980C>G (n.980C>G) c.1077C>G (p.Ile359Met) n.945C>G c.264C>G (p.Ile88Met) c.452C>G (n.452C>G) c.840C>G (p.Ile280Met) c.1200C>G (p.Ile400Met) c.1197C>G (p.Ile399Met) c.465C>G (p.Ile155Met)	ClinVar dbSNP
7	g.151568737G=	CA1752725459	PRKAG2	c.486C= (p.Ile162=) c.1209C= (p.Ile403=) c.1212C= (p.Ile404=) c.489C= (p.Ile163=) c.272C= c.837C= (p.Ile279=) n.706C= c.429C= (p.Ile143=) n.1327C= c.346+1434C= (n.346+1434C=) c.531C= (n.531C=) c.1080C= (p.Ile360=) c.980C= (n.980C=) c.1077C= (p.Ile359=) n.945C= c.264C= (p.Ile88=) c.452C= (n.452C=) c.840C= (p.Ile280=) c.1200C= (p.Ile400=) c.1197C= (p.Ile399=) c.465C= (p.Ile155=)
7	g.151568737G>T	CA458668729	PRKAG2	c.486C>A (p.Ile162=) c.1209C>A (p.Ile403=) c.1212C>A (p.Ile404=) c.489C>A (p.Ile163=) c.272C>A c.837C>A (p.Ile279=) n.706C>A c.429C>A (p.Ile143=) n.1327C>A c.346+1434C>A (n.346+1434C>A) c.531C>A (n.531C>A) c.1080C>A (p.Ile360=) c.980C>A (n.980C>A) c.1077C>A (p.Ile359=) n.945C>A c.264C>A (p.Ile88=) c.452C>A (n.452C>A) c.840C>A (p.Ile280=) c.1200C>A (p.Ile400=) c.1197C>A (p.Ile399=) c.465C>A (p.Ile155=)
7	g.151568738A>C	CA370071452	PRKAG2	c.485T>G (p.Ile162Ser) c.1208T>G (p.Ile403Ser) c.1211T>G (p.Ile404Ser) c.488T>G (p.Ile163Ser) c.271T>G c.836T>G (p.Ile279Ser) n.705T>G c.428T>G (p.Ile143Ser) n.1326T>G c.346+1433T>G (n.346+1433T>G) c.530T>G (n.530T>G) c.1079T>G (p.Ile360Ser) c.979T>G (n.979T>G) c.1076T>G (p.Ile359Ser) n.944T>G c.263T>G (p.Ile88Ser) c.451T>G (n.451T>G) c.839T>G (p.Ile280Ser) c.1199T>G (p.Ile400Ser) c.1196T>G (p.Ile399Ser) c.464T>G (p.Ile155Ser)
7	g.151568738A>G	CA370071450	PRKAG2	c.485T>C (p.Ile162Thr) c.1208T>C (p.Ile403Thr) c.1211T>C (p.Ile404Thr) c.488T>C (p.Ile163Thr) c.271T>C c.836T>C (p.Ile279Thr) n.705T>C c.428T>C (p.Ile143Thr) n.1326T>C c.346+1433T>C (n.346+1433T>C) c.530T>C (n.530T>C) c.1079T>C (p.Ile360Thr) c.979T>C (n.979T>C) c.1076T>C (p.Ile359Thr) n.944T>C c.263T>C (p.Ile88Thr) c.451T>C (n.451T>C) c.839T>C (p.Ile280Thr) c.1199T>C (p.Ile400Thr) c.1196T>C (p.Ile399Thr) c.464T>C (p.Ile155Thr)
7	g.151568738A>T	CA370071451	PRKAG2	c.485T>A (p.Ile162Asn) c.1208T>A (p.Ile403Asn) c.1211T>A (p.Ile404Asn) c.488T>A (p.Ile163Asn) c.271T>A c.836T>A (p.Ile279Asn) n.705T>A c.428T>A (p.Ile143Asn) n.1326T>A c.346+1433T>A (n.346+1433T>A) c.530T>A (n.530T>A) c.1079T>A (p.Ile360Asn) c.979T>A (n.979T>A) c.1076T>A (p.Ile359Asn) n.944T>A c.263T>A (p.Ile88Asn) c.451T>A (n.451T>A) c.839T>A (p.Ile280Asn) c.1199T>A (p.Ile400Asn) c.1196T>A (p.Ile399Asn) c.464T>A (p.Ile155Asn)	gnomAD v4
7	g.151568739T>A	CA370071453	PRKAG2	c.484A>T (p.Ile162Phe) c.1207A>T (p.Ile403Phe) c.1210A>T (p.Ile404Phe) c.487A>T (p.Ile163Phe) c.270A>T c.835A>T (p.Ile279Phe) n.704A>T c.427A>T (p.Ile143Phe) n.1325A>T c.346+1432A>T (n.346+1432A>T) c.529A>T (n.529A>T) c.1078A>T (p.Ile360Phe) c.978A>T (n.978A>T) c.1075A>T (p.Ile359Phe) n.943A>T c.262A>T (p.Ile88Phe) c.450A>T (n.450A>T) c.838A>T (p.Ile280Phe) c.1198A>T (p.Ile400Phe) c.1195A>T (p.Ile399Phe) c.463A>T (p.Ile155Phe)
7	g.151568739T>C	CA370071454	PRKAG2	c.484A>G (p.Ile162Val) c.1207A>G (p.Ile403Val) c.1210A>G (p.Ile404Val) c.487A>G (p.Ile163Val) c.270A>G c.835A>G (p.Ile279Val) n.704A>G c.427A>G (p.Ile143Val) n.1325A>G c.346+1432A>G (n.346+1432A>G) c.529A>G (n.529A>G) c.1078A>G (p.Ile360Val) c.978A>G (n.978A>G) c.1075A>G (p.Ile359Val) n.943A>G c.262A>G (p.Ile88Val) c.450A>G (n.450A>G) c.838A>G (p.Ile280Val) c.1198A>G (p.Ile400Val) c.1195A>G (p.Ile399Val) c.463A>G (p.Ile155Val)
7	g.151568739T>G	CA370071455	PRKAG2	c.484A>C (p.Ile162Leu) c.1207A>C (p.Ile403Leu) c.1210A>C (p.Ile404Leu) c.487A>C (p.Ile163Leu) c.270A>C c.835A>C (p.Ile279Leu) n.704A>C c.427A>C (p.Ile143Leu) n.1325A>C c.346+1432A>C (n.346+1432A>C) c.529A>C (n.529A>C) c.1078A>C (p.Ile360Leu) c.978A>C (n.978A>C) c.1075A>C (p.Ile359Leu) n.943A>C c.262A>C (p.Ile88Leu) c.450A>C (n.450A>C) c.838A>C (p.Ile280Leu) c.1198A>C (p.Ile400Leu) c.1195A>C (p.Ile399Leu) c.463A>C (p.Ile155Leu)
7	g.151568740T>A	CA370071456	PRKAG2	c.483A>T (p.Arg161Ser) c.1206A>T (p.Arg402Ser) c.1209A>T (p.Arg403Ser) c.486A>T (p.Arg162Ser) c.269A>T c.834A>T (p.Arg278Ser) n.703A>T c.426A>T (p.Arg142Ser) n.1324A>T c.346+1431A>T (n.346+1431A>T) c.528A>T (n.528A>T) c.1077A>T (p.Arg359Ser) c.977A>T (n.977A>T) c.1074A>T (p.Arg358Ser) n.942A>T c.261A>T (p.Arg87Ser) c.449A>T (n.449A>T) c.837A>T (p.Arg279Ser) c.1197A>T (p.Arg399Ser) c.1194A>T (p.Arg398Ser) c.462A>T (p.Arg154Ser)
7	g.151568740T>C	CA458668741	PRKAG2	c.483A>G (p.Arg161=) c.1206A>G (p.Arg402=) c.1209A>G (p.Arg403=) c.486A>G (p.Arg162=) c.269A>G c.834A>G (p.Arg278=) n.703A>G c.426A>G (p.Arg142=) n.1324A>G c.346+1431A>G (n.346+1431A>G) c.528A>G (n.528A>G) c.1077A>G (p.Arg359=) c.977A>G (n.977A>G) c.1074A>G (p.Arg358=) n.942A>G c.261A>G (p.Arg87=) c.449A>G (n.449A>G) c.837A>G (p.Arg279=) c.1197A>G (p.Arg399=) c.1194A>G (p.Arg398=) c.462A>G (p.Arg154=)
7	g.151568740T>G	CA370071457	PRKAG2	c.483A>C (p.Arg161Ser) c.1206A>C (p.Arg402Ser) c.1209A>C (p.Arg403Ser) c.486A>C (p.Arg162Ser) c.269A>C c.834A>C (p.Arg278Ser) n.703A>C c.426A>C (p.Arg142Ser) n.1324A>C c.346+1431A>C (n.346+1431A>C) c.528A>C (n.528A>C) c.1077A>C (p.Arg359Ser) c.977A>C (n.977A>C) c.1074A>C (p.Arg358Ser) n.942A>C c.261A>C (p.Arg87Ser) c.449A>C (n.449A>C) c.837A>C (p.Arg279Ser) c.1197A>C (p.Arg399Ser) c.1194A>C (p.Arg398Ser) c.462A>C (p.Arg154Ser)
7	g.151568741C>A	CA370071458	PRKAG2	c.482G>T (p.Arg161Ile) c.1205G>T (p.Arg402Ile) c.1208G>T (p.Arg403Ile) c.485G>T (p.Arg162Ile) c.268G>T c.833G>T (p.Arg278Ile) n.702G>T c.425G>T (p.Arg142Ile) n.1323G>T c.346+1430G>T (n.346+1430G>T) c.527G>T (n.527G>T) c.1076G>T (p.Arg359Ile) c.976G>T (n.976G>T) c.1073G>T (p.Arg358Ile) n.941G>T c.260G>T (p.Arg87Ile) c.448G>T (n.448G>T) c.836G>T (p.Arg279Ile) c.1196G>T (p.Arg399Ile) c.1193G>T (p.Arg398Ile) c.461G>T (p.Arg154Ile)
7	g.151568741C>G	CA370071459	PRKAG2	c.482G>C (p.Arg161Thr) c.1205G>C (p.Arg402Thr) c.1208G>C (p.Arg403Thr) c.485G>C (p.Arg162Thr) c.268G>C c.833G>C (p.Arg278Thr) n.702G>C c.425G>C (p.Arg142Thr) n.1323G>C c.346+1430G>C (n.346+1430G>C) c.527G>C (n.527G>C) c.1076G>C (p.Arg359Thr) c.976G>C (n.976G>C) c.1073G>C (p.Arg358Thr) n.941G>C c.260G>C (p.Arg87Thr) c.448G>C (n.448G>C) c.836G>C (p.Arg279Thr) c.1196G>C (p.Arg399Thr) c.1193G>C (p.Arg398Thr) c.461G>C (p.Arg154Thr)
7	g.151568741C>T	CA370071460	PRKAG2	c.482G>A (p.Arg161Lys) c.1205G>A (p.Arg402Lys) c.1208G>A (p.Arg403Lys) c.485G>A (p.Arg162Lys) c.268G>A c.833G>A (p.Arg278Lys) n.702G>A c.425G>A (p.Arg142Lys) n.1323G>A c.346+1430G>A (n.346+1430G>A) c.527G>A (n.527G>A) c.1076G>A (p.Arg359Lys) c.976G>A (n.976G>A) c.1073G>A (p.Arg358Lys) n.941G>A c.260G>A (p.Arg87Lys) c.448G>A (n.448G>A) c.836G>A (p.Arg279Lys) c.1196G>A (p.Arg399Lys) c.1193G>A (p.Arg398Lys) c.461G>A (p.Arg154Lys)
7	g.151568742T>A	CA370071461	PRKAG2	c.481A>T (p.Arg161Ter) c.1204A>T (p.Arg402Ter) c.1207A>T (p.Arg403Ter) c.484A>T (p.Arg162Ter) c.267A>T c.832A>T (p.Arg278Ter) n.701A>T c.424A>T (p.Arg142Ter) n.1322A>T c.346+1429A>T (n.346+1429A>T) c.526A>T (n.526A>T) c.1075A>T (p.Arg359Ter) c.975A>T (n.975A>T) c.1072A>T (p.Arg358Ter) n.940A>T c.259A>T (p.Arg87Ter) c.447A>T (n.447A>T) c.835A>T (p.Arg279Ter) c.1195A>T (p.Arg399Ter) c.1192A>T (p.Arg398Ter) c.460A>T (p.Arg154Ter)
7	g.151568742T>C	CA370071462	PRKAG2	c.481A>G (p.Arg161Gly) c.1204A>G (p.Arg402Gly) c.1207A>G (p.Arg403Gly) c.484A>G (p.Arg162Gly) c.267A>G c.832A>G (p.Arg278Gly) n.701A>G c.424A>G (p.Arg142Gly) n.1322A>G c.346+1429A>G (n.346+1429A>G) c.526A>G (n.526A>G) c.1075A>G (p.Arg359Gly) c.975A>G (n.975A>G) c.1072A>G (p.Arg358Gly) n.940A>G c.259A>G (p.Arg87Gly) c.447A>G (n.447A>G) c.835A>G (p.Arg279Gly) c.1195A>G (p.Arg399Gly) c.1192A>G (p.Arg398Gly) c.460A>G (p.Arg154Gly)
7	g.151568742T>G	CA458668754	PRKAG2	c.481A>C (p.Arg161=) c.1204A>C (p.Arg402=) c.1207A>C (p.Arg403=) c.484A>C (p.Arg162=) c.267A>C c.832A>C (p.Arg278=) n.701A>C c.424A>C (p.Arg142=) n.1322A>C c.346+1429A>C (n.346+1429A>C) c.526A>C (n.526A>C) c.1075A>C (p.Arg359=) c.975A>C (n.975A>C) c.1072A>C (p.Arg358=) n.940A>C c.259A>C (p.Arg87=) c.447A>C (n.447A>C) c.835A>C (p.Arg279=) c.1195A>C (p.Arg399=) c.1192A>C (p.Arg398=) c.460A>C (p.Arg154=)
7	g.151568743T>A	CA370071464	PRKAG2	c.480A>T (p.Lys160Asn) c.1203A>T (p.Lys401Asn) c.1206A>T (p.Lys402Asn) c.483A>T (p.Lys161Asn) c.266A>T c.831A>T (p.Lys277Asn) n.700A>T c.423A>T (p.Lys141Asn) n.1321A>T c.346+1428A>T (n.346+1428A>T) c.525A>T (n.525A>T) c.1074A>T (p.Lys358Asn) c.974A>T (n.974A>T) c.1071A>T (p.Lys357Asn) n.939A>T c.258A>T (p.Lys86Asn) c.446A>T (n.446A>T) c.834A>T (p.Lys278Asn) c.1194A>T (p.Lys398Asn) c.1191A>T (p.Lys397Asn) c.459A>T (p.Lys153Asn)
7	g.151568743T>C	CA458668761	PRKAG2	c.480A>G (p.Lys160=) c.1203A>G (p.Lys401=) c.1206A>G (p.Lys402=) c.483A>G (p.Lys161=) c.266A>G c.831A>G (p.Lys277=) n.700A>G c.423A>G (p.Lys141=) n.1321A>G c.346+1428A>G (n.346+1428A>G) c.525A>G (n.525A>G) c.1074A>G (p.Lys358=) c.974A>G (n.974A>G) c.1071A>G (p.Lys357=) n.939A>G c.258A>G (p.Lys86=) c.446A>G (n.446A>G) c.834A>G (p.Lys278=) c.1194A>G (p.Lys398=) c.1191A>G (p.Lys397=) c.459A>G (p.Lys153=)
7	g.151568743T>G	CA370071463	PRKAG2	c.480A>C (p.Lys160Asn) c.1203A>C (p.Lys401Asn) c.1206A>C (p.Lys402Asn) c.483A>C (p.Lys161Asn) c.266A>C c.831A>C (p.Lys277Asn) n.700A>C c.423A>C (p.Lys141Asn) n.1321A>C c.346+1428A>C (n.346+1428A>C) c.525A>C (n.525A>C) c.1074A>C (p.Lys358Asn) c.974A>C (n.974A>C) c.1071A>C (p.Lys357Asn) n.939A>C c.258A>C (p.Lys86Asn) c.446A>C (n.446A>C) c.834A>C (p.Lys278Asn) c.1194A>C (p.Lys398Asn) c.1191A>C (p.Lys397Asn) c.459A>C (p.Lys153Asn)
7	g.151568744T>A	CA370071465	PRKAG2	c.479A>T (p.Lys160Ile) c.1202A>T (p.Lys401Ile) c.1205A>T (p.Lys402Ile) c.482A>T (p.Lys161Ile) c.265A>T c.830A>T (p.Lys277Ile) n.699A>T c.422A>T (p.Lys141Ile) n.1320A>T c.346+1427A>T (n.346+1427A>T) c.524A>T (n.524A>T) c.1073A>T (p.Lys358Ile) c.973A>T (n.973A>T) c.1070A>T (p.Lys357Ile) n.938A>T c.257A>T (p.Lys86Ile) c.445A>T (n.445A>T) c.833A>T (p.Lys278Ile) c.1193A>T (p.Lys398Ile) c.1190A>T (p.Lys397Ile) c.458A>T (p.Lys153Ile)
7	g.151568744T>C	CA370071466	PRKAG2	c.479A>G (p.Lys160Arg) c.1202A>G (p.Lys401Arg) c.1205A>G (p.Lys402Arg) c.482A>G (p.Lys161Arg) c.265A>G c.830A>G (p.Lys277Arg) n.699A>G c.422A>G (p.Lys141Arg) n.1320A>G c.346+1427A>G (n.346+1427A>G) c.524A>G (n.524A>G) c.1073A>G (p.Lys358Arg) c.973A>G (n.973A>G) c.1070A>G (p.Lys357Arg) n.938A>G c.257A>G (p.Lys86Arg) c.445A>G (n.445A>G) c.833A>G (p.Lys278Arg) c.1193A>G (p.Lys398Arg) c.1190A>G (p.Lys397Arg) c.458A>G (p.Lys153Arg)
7	g.151568744T>G	CA370071467	PRKAG2	c.479A>C (p.Lys160Thr) c.1202A>C (p.Lys401Thr) c.1205A>C (p.Lys402Thr) c.482A>C (p.Lys161Thr) c.265A>C c.830A>C (p.Lys277Thr) n.699A>C c.422A>C (p.Lys141Thr) n.1320A>C c.346+1427A>C (n.346+1427A>C) c.524A>C (n.524A>C) c.1073A>C (p.Lys358Thr) c.973A>C (n.973A>C) c.1070A>C (p.Lys357Thr) n.938A>C c.257A>C (p.Lys86Thr) c.445A>C (n.445A>C) c.833A>C (p.Lys278Thr) c.1193A>C (p.Lys398Thr) c.1190A>C (p.Lys397Thr) c.458A>C (p.Lys153Thr)
7	g.151568745T>A	CA370071468	PRKAG2	c.478A>T (p.Lys160Ter) c.1201A>T (p.Lys401Ter) c.1204A>T (p.Lys402Ter) c.481A>T (p.Lys161Ter) c.264A>T c.829A>T (p.Lys277Ter) n.698A>T c.421A>T (p.Lys141Ter) n.1319A>T c.346+1426A>T (n.346+1426A>T) c.523A>T (n.523A>T) c.1072A>T (p.Lys358Ter) c.972A>T (n.972A>T) c.1069A>T (p.Lys357Ter) n.937A>T c.256A>T (p.Lys86Ter) c.444A>T (n.444A>T) c.832A>T (p.Lys278Ter) c.1192A>T (p.Lys398Ter) c.1189A>T (p.Lys397Ter) c.457A>T (p.Lys153Ter)
7	g.151568745T>C	CA370071469	PRKAG2	c.478A>G (p.Lys160Glu) c.1201A>G (p.Lys401Glu) c.1204A>G (p.Lys402Glu) c.481A>G (p.Lys161Glu) c.264A>G c.829A>G (p.Lys277Glu) n.698A>G c.421A>G (p.Lys141Glu) n.1319A>G c.346+1426A>G (n.346+1426A>G) c.523A>G (n.523A>G) c.1072A>G (p.Lys358Glu) c.972A>G (n.972A>G) c.1069A>G (p.Lys357Glu) n.937A>G c.256A>G (p.Lys86Glu) c.444A>G (n.444A>G) c.832A>G (p.Lys278Glu) c.1192A>G (p.Lys398Glu) c.1189A>G (p.Lys397Glu) c.457A>G (p.Lys153Glu)	ClinVar dbSNP
7	g.151568745T>G	CA370071470	PRKAG2	c.478A>C (p.Lys160Gln) c.1201A>C (p.Lys401Gln) c.1204A>C (p.Lys402Gln) c.481A>C (p.Lys161Gln) c.264A>C c.829A>C (p.Lys277Gln) n.698A>C c.421A>C (p.Lys141Gln) n.1319A>C c.346+1426A>C (n.346+1426A>C) c.523A>C (n.523A>C) c.1072A>C (p.Lys358Gln) c.972A>C (n.972A>C) c.1069A>C (p.Lys357Gln) n.937A>C c.256A>C (p.Lys86Gln) c.444A>C (n.444A>C) c.832A>C (p.Lys278Gln) c.1192A>C (p.Lys398Gln) c.1189A>C (p.Lys397Gln) c.457A>C (p.Lys153Gln)
7	g.151568745T=	CA1752725473	PRKAG2	c.478A= (p.Lys160=) c.1201A= (p.Lys401=) c.1204A= (p.Lys402=) c.481A= (p.Lys161=) c.264A= c.829A= (p.Lys277=) n.698A= c.421A= (p.Lys141=) n.1319A= c.346+1426A= (n.346+1426A=) c.523A= (n.523A=) c.1072A= (p.Lys358=) c.972A= (n.972A=) c.1069A= (p.Lys357=) n.937A= c.256A= (p.Lys86=) c.444A= (n.444A=) c.832A= (p.Lys278=) c.1192A= (p.Lys398=) c.1189A= (p.Lys397=) c.457A= (p.Lys153=)
7	g.151568746G>A	CA054370	PRKAG2	c.477C>T (p.His159=) c.1200C>T (p.His400=) c.1203C>T (p.His401=) c.480C>T (p.His160=) c.263C>T c.828C>T (p.His276=) n.697C>T c.420C>T (p.His140=) n.1318C>T c.346+1425C>T (n.346+1425C>T) c.522C>T (n.522C>T) c.1071C>T (p.His357=) c.971C>T (n.971C>T) c.1068C>T (p.His356=) n.936C>T c.255C>T (p.His85=) c.443C>T (n.443C>T) c.831C>T (p.His277=) c.1191C>T (p.His397=) c.1188C>T (p.His396=) c.456C>T (p.His152=)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.151568746G>C	CA370071471	PRKAG2	c.477C>G (p.His159Gln) c.1200C>G (p.His400Gln) c.1203C>G (p.His401Gln) c.480C>G (p.His160Gln) c.263C>G c.828C>G (p.His276Gln) n.697C>G c.420C>G (p.His140Gln) n.1318C>G c.346+1425C>G (n.346+1425C>G) c.522C>G (n.522C>G) c.1071C>G (p.His357Gln) c.971C>G (n.971C>G) c.1068C>G (p.His356Gln) n.936C>G c.255C>G (p.His85Gln) c.443C>G (n.443C>G) c.831C>G (p.His277Gln) c.1191C>G (p.His397Gln) c.1188C>G (p.His396Gln) c.456C>G (p.His152Gln)
7	g.151568746G=	CA1752725480	PRKAG2	c.477C= (p.His159=) c.1200C= (p.His400=) c.1203C= (p.His401=) c.480C= (p.His160=) c.263C= c.828C= (p.His276=) n.697C= c.420C= (p.His140=) n.1318C= c.346+1425C= (n.346+1425C=) c.522C= (n.522C=) c.1071C= (p.His357=) c.971C= (n.971C=) c.1068C= (p.His356=) n.936C= c.255C= (p.His85=) c.443C= (n.443C=) c.831C= (p.His277=) c.1191C= (p.His397=) c.1188C= (p.His396=) c.456C= (p.His152=)
7	g.151568746G>T	CA370071472	PRKAG2	c.477C>A (p.His159Gln) c.1200C>A (p.His400Gln) c.1203C>A (p.His401Gln) c.480C>A (p.His160Gln) c.263C>A c.828C>A (p.His276Gln) n.697C>A c.420C>A (p.His140Gln) n.1318C>A c.346+1425C>A (n.346+1425C>A) c.522C>A (n.522C>A) c.1071C>A (p.His357Gln) c.971C>A (n.971C>A) c.1068C>A (p.His356Gln) n.936C>A c.255C>A (p.His85Gln) c.443C>A (n.443C>A) c.831C>A (p.His277Gln) c.1191C>A (p.His397Gln) c.1188C>A (p.His396Gln) c.456C>A (p.His152Gln)
7	g.151568747T>A	CA370071473	PRKAG2	c.476A>T (p.His159Leu) c.1199A>T (p.His400Leu) c.1202A>T (p.His401Leu) c.479A>T (p.His160Leu) c.262A>T c.827A>T (p.His276Leu) n.696A>T c.419A>T (p.His140Leu) n.1317A>T c.346+1424A>T (n.346+1424A>T) c.521A>T (n.521A>T) c.1070A>T (p.His357Leu) c.970A>T (n.970A>T) c.1067A>T (p.His356Leu) n.935A>T c.254A>T (p.His85Leu) c.442A>T (n.442A>T) c.830A>T (p.His277Leu) c.1190A>T (p.His397Leu) c.1187A>T (p.His396Leu) c.455A>T (p.His152Leu)
7	g.151568747T>C	CA370071474	PRKAG2	c.476A>G (p.His159Arg) c.1199A>G (p.His400Arg) c.1202A>G (p.His401Arg) c.479A>G (p.His160Arg) c.262A>G c.827A>G (p.His276Arg) n.696A>G c.419A>G (p.His140Arg) n.1317A>G c.346+1424A>G (n.346+1424A>G) c.521A>G (n.521A>G) c.1070A>G (p.His357Arg) c.970A>G (n.970A>G) c.1067A>G (p.His356Arg) n.935A>G c.254A>G (p.His85Arg) c.442A>G (n.442A>G) c.830A>G (p.His277Arg) c.1190A>G (p.His397Arg) c.1187A>G (p.His396Arg) c.455A>G (p.His152Arg)
7	g.151568747T>G	CA370071475	PRKAG2	c.476A>C (p.His159Pro) c.1199A>C (p.His400Pro) c.1202A>C (p.His401Pro) c.479A>C (p.His160Pro) c.262A>C c.827A>C (p.His276Pro) n.696A>C c.419A>C (p.His140Pro) n.1317A>C c.346+1424A>C (n.346+1424A>C) c.521A>C (n.521A>C) c.1070A>C (p.His357Pro) c.970A>C (n.970A>C) c.1067A>C (p.His356Pro) n.935A>C c.254A>C (p.His85Pro) c.442A>C (n.442A>C) c.830A>C (p.His277Pro) c.1190A>C (p.His397Pro) c.1187A>C (p.His396Pro) c.455A>C (p.His152Pro)	dbSNP
7	g.151568747T=	CA1752725484	PRKAG2	c.476A= (p.His159=) c.1199A= (p.His400=) c.1202A= (p.His401=) c.479A= (p.His160=) c.262A= c.827A= (p.His276=) n.696A= c.419A= (p.His140=) n.1317A= c.346+1424A= (n.346+1424A=) c.521A= (n.521A=) c.1070A= (p.His357=) c.970A= (n.970A=) c.1067A= (p.His356=) n.935A= c.254A= (p.His85=) c.442A= (n.442A=) c.830A= (p.His277=) c.1190A= (p.His397=) c.1187A= (p.His396=) c.455A= (p.His152=)
7	g.151568748G>A	CA370071477	PRKAG2	c.475C>T (p.His159Tyr) c.1198C>T (p.His400Tyr) c.1201C>T (p.His401Tyr) c.478C>T (p.His160Tyr) c.261C>T c.826C>T (p.His276Tyr) n.695C>T c.418C>T (p.His140Tyr) n.1316C>T c.346+1423C>T (n.346+1423C>T) c.520C>T (n.520C>T) c.1069C>T (p.His357Tyr) c.969C>T (n.969C>T) c.1066C>T (p.His356Tyr) n.934C>T c.253C>T (p.His85Tyr) c.441C>T (n.441C>T) c.829C>T (p.His277Tyr) c.1189C>T (p.His397Tyr) c.1186C>T (p.His396Tyr) c.454C>T (p.His152Tyr)
7	g.151568748G>C	CA10582471	PRKAG2	c.475C>G (p.His159Asp) c.1198C>G (p.His400Asp) c.1201C>G (p.His401Asp) c.478C>G (p.His160Asp) c.261C>G c.826C>G (p.His276Asp) n.695C>G c.418C>G (p.His140Asp) n.1316C>G c.346+1423C>G (n.346+1423C>G) c.520C>G (n.520C>G) c.1069C>G (p.His357Asp) c.969C>G (n.969C>G) c.1066C>G (p.His356Asp) n.934C>G c.253C>G (p.His85Asp) c.441C>G (n.441C>G) c.829C>G (p.His277Asp) c.1189C>G (p.His397Asp) c.1186C>G (p.His396Asp) c.454C>G (p.His152Asp)	ClinVar dbSNP
7	g.151568748G=	CA1752725491	PRKAG2	c.475C= (p.His159=) c.1198C= (p.His400=) c.1201C= (p.His401=) c.478C= (p.His160=) c.261C= c.826C= (p.His276=) n.695C= c.418C= (p.His140=) n.1316C= c.346+1423C= (n.346+1423C=) c.520C= (n.520C=) c.1069C= (p.His357=) c.969C= (n.969C=) c.1066C= (p.His356=) n.934C= c.253C= (p.His85=) c.441C= (n.441C=) c.829C= (p.His277=) c.1189C= (p.His397=) c.1186C= (p.His396=) c.454C= (p.His152=)
7	g.151568748G>T	CA370071476	PRKAG2	c.475C>A (p.His159Asn) c.1198C>A (p.His400Asn) c.1201C>A (p.His401Asn) c.478C>A (p.His160Asn) c.261C>A c.826C>A (p.His276Asn) n.695C>A c.418C>A (p.His140Asn) n.1316C>A c.346+1423C>A (n.346+1423C>A) c.520C>A (n.520C>A) c.1069C>A (p.His357Asn) c.969C>A (n.969C>A) c.1066C>A (p.His356Asn) n.934C>A c.253C>A (p.His85Asn) c.441C>A (n.441C>A) c.829C>A (p.His277Asn) c.1189C>A (p.His397Asn) c.1186C>A (p.His396Asn) c.454C>A (p.His152Asn)	gnomAD v4
7	g.151568749G>A	CA054351	PRKAG2	c.474C>T (p.Thr158=) c.1197C>T (p.Thr399=) c.1200C>T (p.Thr400=) c.477C>T (p.Thr159=) c.260C>T c.825C>T (p.Thr275=) n.694C>T c.417C>T (p.Thr139=) n.1315C>T c.346+1422C>T (n.346+1422C>T) c.519C>T (n.519C>T) c.1068C>T (p.Thr356=) c.968C>T (n.968C>T) c.1065C>T (p.Thr355=) n.933C>T c.252C>T (p.Thr84=) c.440C>T (n.440C>T) c.828C>T (p.Thr276=) c.1188C>T (p.Thr396=) c.1185C>T (p.Thr395=) c.453C>T (p.Thr151=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7	g.151568749G>C	CA458668792	PRKAG2	c.474C>G (p.Thr158=) c.1197C>G (p.Thr399=) c.1200C>G (p.Thr400=) c.477C>G (p.Thr159=) c.260C>G c.825C>G (p.Thr275=) n.694C>G c.417C>G (p.Thr139=) n.1315C>G c.346+1422C>G (n.346+1422C>G) c.519C>G (n.519C>G) c.1068C>G (p.Thr356=) c.968C>G (n.968C>G) c.1065C>G (p.Thr355=) n.933C>G c.252C>G (p.Thr84=) c.440C>G (n.440C>G) c.828C>G (p.Thr276=) c.1188C>G (p.Thr396=) c.1185C>G (p.Thr395=) c.453C>G (p.Thr151=)	ClinVar
7	g.151568749G=	CA1752725496	PRKAG2	c.474C= (p.Thr158=) c.1197C= (p.Thr399=) c.1200C= (p.Thr400=) c.477C= (p.Thr159=) c.260C= c.825C= (p.Thr275=) n.694C= c.417C= (p.Thr139=) n.1315C= c.346+1422C= (n.346+1422C=) c.519C= (n.519C=) c.1068C= (p.Thr356=) c.968C= (n.968C=) c.1065C= (p.Thr355=) n.933C= c.252C= (p.Thr84=) c.440C= (n.440C=) c.828C= (p.Thr276=) c.1188C= (p.Thr396=) c.1185C= (p.Thr395=) c.453C= (p.Thr151=)
7	g.151568749G>T	CA458668794	PRKAG2	c.474C>A (p.Thr158=) c.1197C>A (p.Thr399=) c.1200C>A (p.Thr400=) c.477C>A (p.Thr159=) c.260C>A c.825C>A (p.Thr275=) n.694C>A c.417C>A (p.Thr139=) n.1315C>A c.346+1422C>A (n.346+1422C>A) c.519C>A (n.519C>A) c.1068C>A (p.Thr356=) c.968C>A (n.968C>A) c.1065C>A (p.Thr355=) n.933C>A c.252C>A (p.Thr84=) c.440C>A (n.440C>A) c.828C>A (p.Thr276=) c.1188C>A (p.Thr396=) c.1185C>A (p.Thr395=) c.453C>A (p.Thr151=)
7	g.151568750G>A	CA370071478	PRKAG2	c.473C>T (p.Thr158Ile) c.1196C>T (p.Thr399Ile) c.1199C>T (p.Thr400Ile) c.476C>T (p.Thr159Ile) c.259C>T c.824C>T (p.Thr275Ile) n.693C>T c.416C>T (p.Thr139Ile) n.1314C>T c.346+1421C>T (n.346+1421C>T) c.518C>T (n.518C>T) c.1067C>T (p.Thr356Ile) c.967C>T (n.967C>T) c.1064C>T (p.Thr355Ile) n.932C>T c.251C>T (p.Thr84Ile) c.439C>T (n.439C>T) c.827C>T (p.Thr276Ile) c.1187C>T (p.Thr396Ile) c.1184C>T (p.Thr395Ile) c.452C>T (p.Thr151Ile)
7	g.151568750G>C	CA370071479	PRKAG2	c.473C>G (p.Thr158Ser) c.1196C>G (p.Thr399Ser) c.1199C>G (p.Thr400Ser) c.476C>G (p.Thr159Ser) c.259C>G c.824C>G (p.Thr275Ser) n.693C>G c.416C>G (p.Thr139Ser) n.1314C>G c.346+1421C>G (n.346+1421C>G) c.518C>G (n.518C>G) c.1067C>G (p.Thr356Ser) c.967C>G (n.967C>G) c.1064C>G (p.Thr355Ser) n.932C>G c.251C>G (p.Thr84Ser) c.439C>G (n.439C>G) c.827C>G (p.Thr276Ser) c.1187C>G (p.Thr396Ser) c.1184C>G (p.Thr395Ser) c.452C>G (p.Thr151Ser)
7	g.151568750G=	CA1752725514	PRKAG2	c.473C= (p.Thr158=) c.1196C= (p.Thr399=) c.1199C= (p.Thr400=) c.476C= (p.Thr159=) c.259C= c.824C= (p.Thr275=) n.693C= c.416C= (p.Thr139=) n.1314C= c.346+1421C= (n.346+1421C=) c.518C= (n.518C=) c.1067C= (p.Thr356=) c.967C= (n.967C=) c.1064C= (p.Thr355=) n.932C= c.251C= (p.Thr84=) c.439C= (n.439C=) c.827C= (p.Thr276=) c.1187C= (p.Thr396=) c.1184C= (p.Thr395=) c.452C= (p.Thr151=)
7	g.151568750G>T	CA013659	PRKAG2	c.473C>A (p.Thr158Asn) c.1196C>A (p.Thr399Asn) c.1199C>A (p.Thr400Asn) c.476C>A (p.Thr159Asn) c.259C>A c.824C>A (p.Thr275Asn) n.693C>A c.416C>A (p.Thr139Asn) n.1314C>A c.346+1421C>A (n.346+1421C>A) c.518C>A (n.518C>A) c.1067C>A (p.Thr356Asn) c.967C>A (n.967C>A) c.1064C>A (p.Thr355Asn) n.932C>A c.251C>A (p.Thr84Asn) c.439C>A (n.439C>A) c.827C>A (p.Thr276Asn) c.1187C>A (p.Thr396Asn) c.1184C>A (p.Thr395Asn) c.452C>A (p.Thr151Asn)	ClinVar dbSNP
7	g.151568751T>A	CA370071480	PRKAG2	c.472A>T (p.Thr158Ser) c.1195A>T (p.Thr399Ser) c.1198A>T (p.Thr400Ser) c.475A>T (p.Thr159Ser) c.258A>T c.823A>T (p.Thr275Ser) n.692A>T c.415A>T (p.Thr139Ser) n.1313A>T c.346+1420A>T (n.346+1420A>T) c.517A>T (n.517A>T) c.1066A>T (p.Thr356Ser) c.966A>T (n.966A>T) c.1063A>T (p.Thr355Ser) n.931A>T c.250A>T (p.Thr84Ser) c.438A>T (n.438A>T) c.826A>T (p.Thr276Ser) c.1186A>T (p.Thr396Ser) c.1183A>T (p.Thr395Ser) c.451A>T (p.Thr151Ser)
7	g.151568751T>C	CA370071481	PRKAG2	c.472A>G (p.Thr158Ala) c.1195A>G (p.Thr399Ala) c.1198A>G (p.Thr400Ala) c.475A>G (p.Thr159Ala) c.258A>G c.823A>G (p.Thr275Ala) n.692A>G c.415A>G (p.Thr139Ala) n.1313A>G c.346+1420A>G (n.346+1420A>G) c.517A>G (n.517A>G) c.1066A>G (p.Thr356Ala) c.966A>G (n.966A>G) c.1063A>G (p.Thr355Ala) n.931A>G c.250A>G (p.Thr84Ala) c.438A>G (n.438A>G) c.826A>G (p.Thr276Ala) c.1186A>G (p.Thr396Ala) c.1183A>G (p.Thr395Ala) c.451A>G (p.Thr151Ala)	ClinVar dbSNP
7	g.151568751T>G	CA370071482	PRKAG2	c.472A>C (p.Thr158Pro) c.1195A>C (p.Thr399Pro) c.1198A>C (p.Thr400Pro) c.475A>C (p.Thr159Pro) c.258A>C c.823A>C (p.Thr275Pro) n.692A>C c.415A>C (p.Thr139Pro) n.1313A>C c.346+1420A>C (n.346+1420A>C) c.517A>C (n.517A>C) c.1066A>C (p.Thr356Pro) c.966A>C (n.966A>C) c.1063A>C (p.Thr355Pro) n.931A>C c.250A>C (p.Thr84Pro) c.438A>C (n.438A>C) c.826A>C (p.Thr276Pro) c.1186A>C (p.Thr396Pro) c.1183A>C (p.Thr395Pro) c.451A>C (p.Thr151Pro)
7	g.151568751T=	CA1752725529	PRKAG2	c.472A= (p.Thr158=) c.1195A= (p.Thr399=) c.1198A= (p.Thr400=) c.475A= (p.Thr159=) c.258A= c.823A= (p.Thr275=) n.692A= c.415A= (p.Thr139=) n.1313A= c.346+1420A= (n.346+1420A=) c.517A= (n.517A=) c.1066A= (p.Thr356=) c.966A= (n.966A=) c.1063A= (p.Thr355=) n.931A= c.250A= (p.Thr84=) c.438A= (n.438A=) c.826A= (p.Thr276=) c.1186A= (p.Thr396=) c.1183A= (p.Thr395=) c.451A= (p.Thr151=)
7	g.151568751dup	CA645547451	PRKAG2	c.472dup (p.Thr158AsnfsTer25) c.1195dup (p.Thr399AsnfsTer15) c.1198dup (p.Thr400AsnfsTer15) c.475dup (p.Thr159AsnfsTer15) c.258dup c.823dup (p.Thr275AsnfsTer15) n.692dup c.415dup (p.Thr139AsnfsTer15) n.1313dup c.346+1420dup (n.346+1420dup) c.517dup (n.517dup) c.1066dup (p.Thr356AsnfsTer15) c.966dup (n.966dup) c.1063dup (p.Thr355AsnfsTer15) n.931dup c.475dup (p.Thr159AsnfsTer13) c.475dup (p.Thr159AsnfsTer?) c.250dup (p.Thr84AsnfsTer25) c.438dup (n.438dup) c.826dup (p.Thr276AsnfsTer15) c.1186dup (p.Thr396AsnfsTer15) c.1183dup (p.Thr395AsnfsTer15) c.451dup (p.Thr151AsnfsTer15) c.472dup (p.Thr158AsnfsTer15)	COSMIC COSMIC
7	g.151568752A=	CA1752725548	PRKAG2	c.471T= (p.Leu157=) c.1194T= (p.Leu398=) c.1197T= (p.Leu399=) c.474T= (p.Leu158=) c.257T= c.822T= (p.Leu274=) n.691T= c.414T= (p.Leu138=) n.1312T= c.346+1419T= (n.346+1419T=) c.516T= (n.516T=) c.1065T= (p.Leu355=) c.965T= (n.965T=) c.1062T= (p.Leu354=) n.930T= c.249T= (p.Leu83=) c.437T= (n.437T=) c.825T= (p.Leu275=) c.1185T= (p.Leu395=) c.1182T= (p.Leu394=) c.450T= (p.Leu150=)
7	g.151568752A>C	CA458668809	PRKAG2	c.471T>G (p.Leu157=) c.1194T>G (p.Leu398=) c.1197T>G (p.Leu399=) c.474T>G (p.Leu158=) c.257T>G c.822T>G (p.Leu274=) n.691T>G c.414T>G (p.Leu138=) n.1312T>G c.346+1419T>G (n.346+1419T>G) c.516T>G (n.516T>G) c.1065T>G (p.Leu355=) c.965T>G (n.965T>G) c.1062T>G (p.Leu354=) n.930T>G c.249T>G (p.Leu83=) c.437T>G (n.437T>G) c.825T>G (p.Leu275=) c.1185T>G (p.Leu395=) c.1182T>G (p.Leu394=) c.450T>G (p.Leu150=)
7	g.151568752A>G	CA458668811	PRKAG2	c.471T>C (p.Leu157=) c.1194T>C (p.Leu398=) c.1197T>C (p.Leu399=) c.474T>C (p.Leu158=) c.257T>C c.822T>C (p.Leu274=) n.691T>C c.414T>C (p.Leu138=) n.1312T>C c.346+1419T>C (n.346+1419T>C) c.516T>C (n.516T>C) c.1065T>C (p.Leu355=) c.965T>C (n.965T>C) c.1062T>C (p.Leu354=) n.930T>C c.249T>C (p.Leu83=) c.437T>C (n.437T>C) c.825T>C (p.Leu275=) c.1185T>C (p.Leu395=) c.1182T>C (p.Leu394=) c.450T>C (p.Leu150=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.151568752A>T	CA458668813	PRKAG2	c.471T>A (p.Leu157=) c.1194T>A (p.Leu398=) c.1197T>A (p.Leu399=) c.474T>A (p.Leu158=) c.257T>A c.822T>A (p.Leu274=) n.691T>A c.414T>A (p.Leu138=) n.1312T>A c.346+1419T>A (n.346+1419T>A) c.516T>A (n.516T>A) c.1065T>A (p.Leu355=) c.965T>A (n.965T>A) c.1062T>A (p.Leu354=) n.930T>A c.249T>A (p.Leu83=) c.437T>A (n.437T>A) c.825T>A (p.Leu275=) c.1185T>A (p.Leu395=) c.1182T>A (p.Leu394=) c.450T>A (p.Leu150=)	gnomAD v4
7	g.151568753A>C	CA370071483	PRKAG2	c.470T>G (p.Leu157Arg) c.1193T>G (p.Leu398Arg) c.1196T>G (p.Leu399Arg) c.473T>G (p.Leu158Arg) c.256T>G c.821T>G (p.Leu274Arg) n.690T>G c.413T>G (p.Leu138Arg) n.1311T>G c.346+1418T>G (n.346+1418T>G) c.515T>G (n.515T>G) c.1064T>G (p.Leu355Arg) c.964T>G (n.964T>G) c.1061T>G (p.Leu354Arg) n.929T>G c.248T>G (p.Leu83Arg) c.436T>G (n.436T>G) c.824T>G (p.Leu275Arg) c.1184T>G (p.Leu395Arg) c.1181T>G (p.Leu394Arg) c.449T>G (p.Leu150Arg)
7	g.151568753A>G	CA370071485	PRKAG2	c.470T>C (p.Leu157Pro) c.1193T>C (p.Leu398Pro) c.1196T>C (p.Leu399Pro) c.473T>C (p.Leu158Pro) c.256T>C c.821T>C (p.Leu274Pro) n.690T>C c.413T>C (p.Leu138Pro) n.1311T>C c.346+1418T>C (n.346+1418T>C) c.515T>C (n.515T>C) c.1064T>C (p.Leu355Pro) c.964T>C (n.964T>C) c.1061T>C (p.Leu354Pro) n.929T>C c.248T>C (p.Leu83Pro) c.436T>C (n.436T>C) c.824T>C (p.Leu275Pro) c.1184T>C (p.Leu395Pro) c.1181T>C (p.Leu394Pro) c.449T>C (p.Leu150Pro)
7	g.151568753A>T	CA370071484	PRKAG2	c.470T>A (p.Leu157His) c.1193T>A (p.Leu398His) c.1196T>A (p.Leu399His) c.473T>A (p.Leu158His) c.256T>A c.821T>A (p.Leu274His) n.690T>A c.413T>A (p.Leu138His) n.1311T>A c.346+1418T>A (n.346+1418T>A) c.515T>A (n.515T>A) c.1064T>A (p.Leu355His) c.964T>A (n.964T>A) c.1061T>A (p.Leu354His) n.929T>A c.248T>A (p.Leu83His) c.436T>A (n.436T>A) c.824T>A (p.Leu275His) c.1184T>A (p.Leu395His) c.1181T>A (p.Leu394His) c.449T>A (p.Leu150His)
7	g.151568754G>A	CA370071486	PRKAG2	c.469C>T (p.Leu157Phe) c.1192C>T (p.Leu398Phe) c.1195C>T (p.Leu399Phe) c.472C>T (p.Leu158Phe) c.255C>T c.820C>T (p.Leu274Phe) n.689C>T c.412C>T (p.Leu138Phe) n.1310C>T c.346+1417C>T (n.346+1417C>T) c.514C>T (n.514C>T) c.1063C>T (p.Leu355Phe) c.963C>T (n.963C>T) c.1060C>T (p.Leu354Phe) n.928C>T c.247C>T (p.Leu83Phe) c.435C>T (n.435C>T) c.823C>T (p.Leu275Phe) c.1183C>T (p.Leu395Phe) c.1180C>T (p.Leu394Phe) c.448C>T (p.Leu150Phe)	ClinVar
7	g.151568754G>C	CA370071487	PRKAG2	c.469C>G (p.Leu157Val) c.1192C>G (p.Leu398Val) c.1195C>G (p.Leu399Val) c.472C>G (p.Leu158Val) c.255C>G c.820C>G (p.Leu274Val) n.689C>G c.412C>G (p.Leu138Val) n.1310C>G c.346+1417C>G (n.346+1417C>G) c.514C>G (n.514C>G) c.1063C>G (p.Leu355Val) c.963C>G (n.963C>G) c.1060C>G (p.Leu354Val) n.928C>G c.247C>G (p.Leu83Val) c.435C>G (n.435C>G) c.823C>G (p.Leu275Val) c.1183C>G (p.Leu395Val) c.1180C>G (p.Leu394Val) c.448C>G (p.Leu150Val)
7	g.151568754G>T	CA370071488	PRKAG2	c.469C>A (p.Leu157Ile) c.1192C>A (p.Leu398Ile) c.1195C>A (p.Leu399Ile) c.472C>A (p.Leu158Ile) c.255C>A c.820C>A (p.Leu274Ile) n.689C>A c.412C>A (p.Leu138Ile) n.1310C>A c.346+1417C>A (n.346+1417C>A) c.514C>A (n.514C>A) c.1063C>A (p.Leu355Ile) c.963C>A (n.963C>A) c.1060C>A (p.Leu354Ile) n.928C>A c.247C>A (p.Leu83Ile) c.435C>A (n.435C>A) c.823C>A (p.Leu275Ile) c.1183C>A (p.Leu395Ile) c.1180C>A (p.Leu394Ile) c.448C>A (p.Leu150Ile)
7	g.151568755T>A	CA458668825	PRKAG2	c.468A>T (p.Ile156=) c.1191A>T (p.Ile397=) c.1194A>T (p.Ile398=) c.471A>T (p.Ile157=) c.254A>T c.819A>T (p.Ile273=) n.688A>T c.411A>T (p.Ile137=) n.1309A>T c.346+1416A>T (n.346+1416A>T) c.513A>T (n.513A>T) c.1062A>T (p.Ile354=) c.962A>T (n.962A>T) c.1059A>T (p.Ile353=) n.927A>T c.246A>T (p.Ile82=) c.434A>T (n.434A>T) c.822A>T (p.Ile274=) c.1182A>T (p.Ile394=) c.1179A>T (p.Ile393=) c.447A>T (p.Ile149=)
7	g.151568755T>C	CA370071489	PRKAG2	c.468A>G (p.Ile156Met) c.1191A>G (p.Ile397Met) c.1194A>G (p.Ile398Met) c.471A>G (p.Ile157Met) c.254A>G c.819A>G (p.Ile273Met) n.688A>G c.411A>G (p.Ile137Met) n.1309A>G c.346+1416A>G (n.346+1416A>G) c.513A>G (n.513A>G) c.1062A>G (p.Ile354Met) c.962A>G (n.962A>G) c.1059A>G (p.Ile353Met) n.927A>G c.246A>G (p.Ile82Met) c.434A>G (n.434A>G) c.822A>G (p.Ile274Met) c.1182A>G (p.Ile394Met) c.1179A>G (p.Ile393Met) c.447A>G (p.Ile149Met)
7	g.151568755T>G	CA458668828	PRKAG2	c.468A>C (p.Ile156=) c.1191A>C (p.Ile397=) c.1194A>C (p.Ile398=) c.471A>C (p.Ile157=) c.254A>C c.819A>C (p.Ile273=) n.688A>C c.411A>C (p.Ile137=) n.1309A>C c.346+1416A>C (n.346+1416A>C) c.513A>C (n.513A>C) c.1062A>C (p.Ile354=) c.962A>C (n.962A>C) c.1059A>C (p.Ile353=) n.927A>C c.246A>C (p.Ile82=) c.434A>C (n.434A>C) c.822A>C (p.Ile274=) c.1182A>C (p.Ile394=) c.1179A>C (p.Ile393=) c.447A>C (p.Ile149=)
7	g.151568756A>C	CA370071490	PRKAG2	c.467T>G (p.Ile156Arg) c.1190T>G (p.Ile397Arg) c.1193T>G (p.Ile398Arg) c.470T>G (p.Ile157Arg) c.253T>G c.818T>G (p.Ile273Arg) n.687T>G c.410T>G (p.Ile137Arg) n.1308T>G c.346+1415T>G (n.346+1415T>G) c.512T>G (n.512T>G) c.1061T>G (p.Ile354Arg) c.961T>G (n.961T>G) c.1058T>G (p.Ile353Arg) n.926T>G c.245T>G (p.Ile82Arg) c.433T>G (n.433T>G) c.821T>G (p.Ile274Arg) c.1181T>G (p.Ile394Arg) c.1178T>G (p.Ile393Arg) c.446T>G (p.Ile149Arg)
7	g.151568756A>G	CA370071492	PRKAG2	c.467T>C (p.Ile156Thr) c.1190T>C (p.Ile397Thr) c.1193T>C (p.Ile398Thr) c.470T>C (p.Ile157Thr) c.253T>C c.818T>C (p.Ile273Thr) n.687T>C c.410T>C (p.Ile137Thr) n.1308T>C c.346+1415T>C (n.346+1415T>C) c.512T>C (n.512T>C) c.1061T>C (p.Ile354Thr) c.961T>C (n.961T>C) c.1058T>C (p.Ile353Thr) n.926T>C c.245T>C (p.Ile82Thr) c.433T>C (n.433T>C) c.821T>C (p.Ile274Thr) c.1181T>C (p.Ile394Thr) c.1178T>C (p.Ile393Thr) c.446T>C (p.Ile149Thr)
7	g.151568756A>T	CA370071491	PRKAG2	c.467T>A (p.Ile156Lys) c.1190T>A (p.Ile397Lys) c.1193T>A (p.Ile398Lys) c.470T>A (p.Ile157Lys) c.253T>A c.818T>A (p.Ile273Lys) n.687T>A c.410T>A (p.Ile137Lys) n.1308T>A c.346+1415T>A (n.346+1415T>A) c.512T>A (n.512T>A) c.1061T>A (p.Ile354Lys) c.961T>A (n.961T>A) c.1058T>A (p.Ile353Lys) n.926T>A c.245T>A (p.Ile82Lys) c.433T>A (n.433T>A) c.821T>A (p.Ile274Lys) c.1181T>A (p.Ile394Lys) c.1178T>A (p.Ile393Lys) c.446T>A (p.Ile149Lys)
7	g.151568757T>A	CA370071493	PRKAG2	c.466A>T (p.Ile156Leu) c.1189A>T (p.Ile397Leu) c.1192A>T (p.Ile398Leu) c.469A>T (p.Ile157Leu) c.252A>T c.817A>T (p.Ile273Leu) n.686A>T c.409A>T (p.Ile137Leu) n.1307A>T c.346+1414A>T (n.346+1414A>T) c.511A>T (n.511A>T) c.1060A>T (p.Ile354Leu) c.960A>T (n.960A>T) c.1057A>T (p.Ile353Leu) n.925A>T c.244A>T (p.Ile82Leu) c.432A>T (n.432A>T) c.820A>T (p.Ile274Leu) c.1180A>T (p.Ile394Leu) c.1177A>T (p.Ile393Leu) c.445A>T (p.Ile149Leu)
7	g.151568757T>C	CA370071494	PRKAG2	c.466A>G (p.Ile156Val) c.1189A>G (p.Ile397Val) c.1192A>G (p.Ile398Val) c.469A>G (p.Ile157Val) c.252A>G c.817A>G (p.Ile273Val) n.686A>G c.409A>G (p.Ile137Val) n.1307A>G c.346+1414A>G (n.346+1414A>G) c.511A>G (n.511A>G) c.1060A>G (p.Ile354Val) c.960A>G (n.960A>G) c.1057A>G (p.Ile353Val) n.925A>G c.244A>G (p.Ile82Val) c.432A>G (n.432A>G) c.820A>G (p.Ile274Val) c.1180A>G (p.Ile394Val) c.1177A>G (p.Ile393Val) c.445A>G (p.Ile149Val)	ClinVar dbSNP
7	g.151568757T>G	CA370071495	PRKAG2	c.466A>C (p.Ile156Leu) c.1189A>C (p.Ile397Leu) c.1192A>C (p.Ile398Leu) c.469A>C (p.Ile157Leu) c.252A>C c.817A>C (p.Ile273Leu) n.686A>C c.409A>C (p.Ile137Leu) n.1307A>C c.346+1414A>C (n.346+1414A>C) c.511A>C (n.511A>C) c.1060A>C (p.Ile354Leu) c.960A>C (n.960A>C) c.1057A>C (p.Ile353Leu) n.925A>C c.244A>C (p.Ile82Leu) c.432A>C (n.432A>C) c.820A>C (p.Ile274Leu) c.1180A>C (p.Ile394Leu) c.1177A>C (p.Ile393Leu) c.445A>C (p.Ile149Leu)
7	g.151568758A=	CA1752725553	PRKAG2	c.465T= (p.Tyr155=) c.1188T= (p.Tyr396=) c.1191T= (p.Tyr397=) c.468T= (p.Tyr156=) c.251T= c.816T= (p.Tyr272=) n.685T= c.408T= (p.Tyr136=) n.1306T= c.346+1413T= (n.346+1413T=) c.510T= (n.510T=) c.1059T= (p.Tyr353=) c.959T= (n.959T=) c.1056T= (p.Tyr352=) n.924T= c.243T= (p.Tyr81=) c.431T= (n.431T=) c.819T= (p.Tyr273=) c.1179T= (p.Tyr393=) c.1176T= (p.Tyr392=) c.444T= (p.Tyr148=)
7	g.151568758A>C	CA370071496	PRKAG2	c.465T>G (p.Tyr155Ter) c.1188T>G (p.Tyr396Ter) c.1191T>G (p.Tyr397Ter) c.468T>G (p.Tyr156Ter) c.251T>G c.816T>G (p.Tyr272Ter) n.685T>G c.408T>G (p.Tyr136Ter) n.1306T>G c.346+1413T>G (n.346+1413T>G) c.510T>G (n.510T>G) c.1059T>G (p.Tyr353Ter) c.959T>G (n.959T>G) c.1056T>G (p.Tyr352Ter) n.924T>G c.243T>G (p.Tyr81Ter) c.431T>G (n.431T>G) c.819T>G (p.Tyr273Ter) c.1179T>G (p.Tyr393Ter) c.1176T>G (p.Tyr392Ter) c.444T>G (p.Tyr148Ter)
7	g.151568758A>G	CA054327	PRKAG2	c.465T>C (p.Tyr155=) c.1188T>C (p.Tyr396=) c.1191T>C (p.Tyr397=) c.468T>C (p.Tyr156=) c.251T>C c.816T>C (p.Tyr272=) n.685T>C c.408T>C (p.Tyr136=) n.1306T>C c.346+1413T>C (n.346+1413T>C) c.510T>C (n.510T>C) c.1059T>C (p.Tyr353=) c.959T>C (n.959T>C) c.1056T>C (p.Tyr352=) n.924T>C c.243T>C (p.Tyr81=) c.431T>C (n.431T>C) c.819T>C (p.Tyr273=) c.1179T>C (p.Tyr393=) c.1176T>C (p.Tyr392=) c.444T>C (p.Tyr148=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7	g.151568758A>T	CA370071497	PRKAG2	c.465T>A (p.Tyr155Ter) c.1188T>A (p.Tyr396Ter) c.1191T>A (p.Tyr397Ter) c.468T>A (p.Tyr156Ter) c.251T>A c.816T>A (p.Tyr272Ter) n.685T>A c.408T>A (p.Tyr136Ter) n.1306T>A c.346+1413T>A (n.346+1413T>A) c.510T>A (n.510T>A) c.1059T>A (p.Tyr353Ter) c.959T>A (n.959T>A) c.1056T>A (p.Tyr352Ter) n.924T>A c.243T>A (p.Tyr81Ter) c.431T>A (n.431T>A) c.819T>A (p.Tyr273Ter) c.1179T>A (p.Tyr393Ter) c.1176T>A (p.Tyr392Ter) c.444T>A (p.Tyr148Ter)
7	g.151568759T>A	CA370071498	PRKAG2	c.464A>T (p.Tyr155Phe) c.1187A>T (p.Tyr396Phe) c.1190A>T (p.Tyr397Phe) c.467A>T (p.Tyr156Phe) c.250A>T c.815A>T (p.Tyr272Phe) n.684A>T c.407A>T (p.Tyr136Phe) n.1305A>T c.346+1412A>T (n.346+1412A>T) c.509A>T (n.509A>T) c.1058A>T (p.Tyr353Phe) c.958A>T (n.958A>T) c.1055A>T (p.Tyr352Phe) n.923A>T c.242A>T (p.Tyr81Phe) c.430A>T (n.430A>T) c.818A>T (p.Tyr273Phe) c.1178A>T (p.Tyr393Phe) c.1175A>T (p.Tyr392Phe) c.443A>T (p.Tyr148Phe)
7	g.151568759T>C	CA370071499	PRKAG2	c.464A>G (p.Tyr155Cys) c.1187A>G (p.Tyr396Cys) c.1190A>G (p.Tyr397Cys) c.467A>G (p.Tyr156Cys) c.250A>G c.815A>G (p.Tyr272Cys) n.684A>G c.407A>G (p.Tyr136Cys) n.1305A>G c.346+1412A>G (n.346+1412A>G) c.509A>G (n.509A>G) c.1058A>G (p.Tyr353Cys) c.958A>G (n.958A>G) c.1055A>G (p.Tyr352Cys) n.923A>G c.242A>G (p.Tyr81Cys) c.430A>G (n.430A>G) c.818A>G (p.Tyr273Cys) c.1178A>G (p.Tyr393Cys) c.1175A>G (p.Tyr392Cys) c.443A>G (p.Tyr148Cys)
7	g.151568759T>G	CA370071500	PRKAG2	c.464A>C (p.Tyr155Ser) c.1187A>C (p.Tyr396Ser) c.1190A>C (p.Tyr397Ser) c.467A>C (p.Tyr156Ser) c.250A>C c.815A>C (p.Tyr272Ser) n.684A>C c.407A>C (p.Tyr136Ser) n.1305A>C c.346+1412A>C (n.346+1412A>C) c.509A>C (n.509A>C) c.1058A>C (p.Tyr353Ser) c.958A>C (n.958A>C) c.1055A>C (p.Tyr352Ser) n.923A>C c.242A>C (p.Tyr81Ser) c.430A>C (n.430A>C) c.818A>C (p.Tyr273Ser) c.1178A>C (p.Tyr393Ser) c.1175A>C (p.Tyr392Ser) c.443A>C (p.Tyr148Ser)
7	g.151568760A>C	CA370071501	PRKAG2	c.463T>G (p.Tyr155Asp) c.1186T>G (p.Tyr396Asp) c.1189T>G (p.Tyr397Asp) c.466T>G (p.Tyr156Asp) c.249T>G c.814T>G (p.Tyr272Asp) n.683T>G c.406T>G (p.Tyr136Asp) n.1304T>G c.346+1411T>G (n.346+1411T>G) c.508T>G (n.508T>G) c.1057T>G (p.Tyr353Asp) c.957T>G (n.957T>G) c.1054T>G (p.Tyr352Asp) n.922T>G c.241T>G (p.Tyr81Asp) c.429T>G (n.429T>G) c.817T>G (p.Tyr273Asp) c.1177T>G (p.Tyr393Asp) c.1174T>G (p.Tyr392Asp) c.442T>G (p.Tyr148Asp)
7	g.151568760A>G	CA370071502	PRKAG2	c.463T>C (p.Tyr155His) c.1186T>C (p.Tyr396His) c.1189T>C (p.Tyr397His) c.466T>C (p.Tyr156His) c.249T>C c.814T>C (p.Tyr272His) n.683T>C c.406T>C (p.Tyr136His) n.1304T>C c.346+1411T>C (n.346+1411T>C) c.508T>C (n.508T>C) c.1057T>C (p.Tyr353His) c.957T>C (n.957T>C) c.1054T>C (p.Tyr352His) n.922T>C c.241T>C (p.Tyr81His) c.429T>C (n.429T>C) c.817T>C (p.Tyr273His) c.1177T>C (p.Tyr393His) c.1174T>C (p.Tyr392His) c.442T>C (p.Tyr148His)
7	g.151568760A>T	CA370071503	PRKAG2	c.463T>A (p.Tyr155Asn) c.1186T>A (p.Tyr396Asn) c.1189T>A (p.Tyr397Asn) c.466T>A (p.Tyr156Asn) c.249T>A c.814T>A (p.Tyr272Asn) n.683T>A c.406T>A (p.Tyr136Asn) n.1304T>A c.346+1411T>A (n.346+1411T>A) c.508T>A (n.508T>A) c.1057T>A (p.Tyr353Asn) c.957T>A (n.957T>A) c.1054T>A (p.Tyr352Asn) n.922T>A c.241T>A (p.Tyr81Asn) c.429T>A (n.429T>A) c.817T>A (p.Tyr273Asn) c.1177T>A (p.Tyr393Asn) c.1174T>A (p.Tyr392Asn) c.442T>A (p.Tyr148Asn)
7	g.151568761A=	CA1752725560	PRKAG2	c.462T= (p.Leu154=) c.1185T= (p.Leu395=) c.1188T= (p.Leu396=) c.465T= (p.Leu155=) c.248T= c.813T= (p.Leu271=) n.682T= c.405T= (p.Leu135=) n.1303T= c.346+1410T= (n.346+1410T=) c.507T= (n.507T=) c.1056T= (p.Leu352=) c.956T= (n.956T=) c.1053T= (p.Leu351=) n.921T= c.240T= (p.Leu80=) c.428T= (n.428T=) c.816T= (p.Leu272=) c.1176T= (p.Leu392=) c.1173T= (p.Leu391=) c.441T= (p.Leu147=)
7	g.151568761A>C	CA458668858	PRKAG2	c.462T>G (p.Leu154=) c.1185T>G (p.Leu395=) c.1188T>G (p.Leu396=) c.465T>G (p.Leu155=) c.248T>G c.813T>G (p.Leu271=) n.682T>G c.405T>G (p.Leu135=) n.1303T>G c.346+1410T>G (n.346+1410T>G) c.507T>G (n.507T>G) c.1056T>G (p.Leu352=) c.956T>G (n.956T>G) c.1053T>G (p.Leu351=) n.921T>G c.240T>G (p.Leu80=) c.428T>G (n.428T>G) c.816T>G (p.Leu272=) c.1176T>G (p.Leu392=) c.1173T>G (p.Leu391=) c.441T>G (p.Leu147=)	ClinVar gnomAD v4
7	g.151568761A>G	CA458668860	PRKAG2	c.462T>C (p.Leu154=) c.1185T>C (p.Leu395=) c.1188T>C (p.Leu396=) c.465T>C (p.Leu155=) c.248T>C c.813T>C (p.Leu271=) n.682T>C c.405T>C (p.Leu135=) n.1303T>C c.346+1410T>C (n.346+1410T>C) c.507T>C (n.507T>C) c.1056T>C (p.Leu352=) c.956T>C (n.956T>C) c.1053T>C (p.Leu351=) n.921T>C c.240T>C (p.Leu80=) c.428T>C (n.428T>C) c.816T>C (p.Leu272=) c.1176T>C (p.Leu392=) c.1173T>C (p.Leu391=) c.441T>C (p.Leu147=)
7	g.151568761A>T	CA458668863	PRKAG2	c.462T>A (p.Leu154=) c.1185T>A (p.Leu395=) c.1188T>A (p.Leu396=) c.465T>A (p.Leu155=) c.248T>A c.813T>A (p.Leu271=) n.682T>A c.405T>A (p.Leu135=) n.1303T>A c.346+1410T>A (n.346+1410T>A) c.507T>A (n.507T>A) c.1056T>A (p.Leu352=) c.956T>A (n.956T>A) c.1053T>A (p.Leu351=) n.921T>A c.240T>A (p.Leu80=) c.428T>A (n.428T>A) c.816T>A (p.Leu272=) c.1176T>A (p.Leu392=) c.1173T>A (p.Leu391=) c.441T>A (p.Leu147=)	dbSNP gnomAD v2 gnomAD v4
7	g.151568762A>C	CA370071505	PRKAG2	c.461T>G (p.Leu154Arg) c.1184T>G (p.Leu395Arg) c.1187T>G (p.Leu396Arg) c.464T>G (p.Leu155Arg) c.247T>G c.812T>G (p.Leu271Arg) n.681T>G c.404T>G (p.Leu135Arg) n.1302T>G c.346+1409T>G (n.346+1409T>G) c.506T>G (n.506T>G) c.1055T>G (p.Leu352Arg) c.955T>G (n.955T>G) c.1052T>G (p.Leu351Arg) n.920T>G c.239T>G (p.Leu80Arg) c.427T>G (n.427T>G) c.815T>G (p.Leu272Arg) c.1175T>G (p.Leu392Arg) c.1172T>G (p.Leu391Arg) c.440T>G (p.Leu147Arg)
7	g.151568762A>G	CA370071506	PRKAG2	c.461T>C (p.Leu154Pro) c.1184T>C (p.Leu395Pro) c.1187T>C (p.Leu396Pro) c.464T>C (p.Leu155Pro) c.247T>C c.812T>C (p.Leu271Pro) n.681T>C c.404T>C (p.Leu135Pro) n.1302T>C c.346+1409T>C (n.346+1409T>C) c.506T>C (n.506T>C) c.1055T>C (p.Leu352Pro) c.955T>C (n.955T>C) c.1052T>C (p.Leu351Pro) n.920T>C c.239T>C (p.Leu80Pro) c.427T>C (n.427T>C) c.815T>C (p.Leu272Pro) c.1175T>C (p.Leu392Pro) c.1172T>C (p.Leu391Pro) c.440T>C (p.Leu147Pro)
7	g.151568762A>T	CA370071504	PRKAG2	c.461T>A (p.Leu154His) c.1184T>A (p.Leu395His) c.1187T>A (p.Leu396His) c.464T>A (p.Leu155His) c.247T>A c.812T>A (p.Leu271His) n.681T>A c.404T>A (p.Leu135His) n.1302T>A c.346+1409T>A (n.346+1409T>A) c.506T>A (n.506T>A) c.1055T>A (p.Leu352His) c.955T>A (n.955T>A) c.1052T>A (p.Leu351His) n.920T>A c.239T>A (p.Leu80His) c.427T>A (n.427T>A) c.815T>A (p.Leu272His) c.1175T>A (p.Leu392His) c.1172T>A (p.Leu391His) c.440T>A (p.Leu147His)
7	g.151568763G>A	CA370071508	PRKAG2	c.460C>T (p.Leu154Phe) c.1183C>T (p.Leu395Phe) c.1186C>T (p.Leu396Phe) c.463C>T (p.Leu155Phe) c.246C>T c.811C>T (p.Leu271Phe) n.680C>T c.403C>T (p.Leu135Phe) n.1301C>T c.346+1408C>T (n.346+1408C>T) c.505C>T (n.505C>T) c.1054C>T (p.Leu352Phe) c.954C>T (n.954C>T) c.1051C>T (p.Leu351Phe) n.919C>T c.238C>T (p.Leu80Phe) c.426C>T (n.426C>T) c.814C>T (p.Leu272Phe) c.1174C>T (p.Leu392Phe) c.1171C>T (p.Leu391Phe) c.439C>T (p.Leu147Phe)
7	g.151568763G>C	CA370071507	PRKAG2	c.460C>G (p.Leu154Val) c.1183C>G (p.Leu395Val) c.1186C>G (p.Leu396Val) c.463C>G (p.Leu155Val) c.246C>G c.811C>G (p.Leu271Val) n.680C>G c.403C>G (p.Leu135Val) n.1301C>G c.346+1408C>G (n.346+1408C>G) c.505C>G (n.505C>G) c.1054C>G (p.Leu352Val) c.954C>G (n.954C>G) c.1051C>G (p.Leu351Val) n.919C>G c.238C>G (p.Leu80Val) c.426C>G (n.426C>G) c.814C>G (p.Leu272Val) c.1174C>G (p.Leu392Val) c.1171C>G (p.Leu391Val) c.439C>G (p.Leu147Val)
7	g.151568763G>T	CA370071509	PRKAG2	c.460C>A (p.Leu154Ile) c.1183C>A (p.Leu395Ile) c.1186C>A (p.Leu396Ile) c.463C>A (p.Leu155Ile) c.246C>A c.811C>A (p.Leu271Ile) n.680C>A c.403C>A (p.Leu135Ile) n.1301C>A c.346+1408C>A (n.346+1408C>A) c.505C>A (n.505C>A) c.1054C>A (p.Leu352Ile) c.954C>A (n.954C>A) c.1051C>A (p.Leu351Ile) n.919C>A c.238C>A (p.Leu80Ile) c.426C>A (n.426C>A) c.814C>A (p.Leu272Ile) c.1174C>A (p.Leu392Ile) c.1171C>A (p.Leu391Ile) c.439C>A (p.Leu147Ile)
7	g.151568764T>A	CA458668882	PRKAG2	c.459A>T (p.Ala153=) c.1182A>T (p.Ala394=) c.1185A>T (p.Ala395=) c.462A>T (p.Ala154=) c.245A>T c.810A>T (p.Ala270=) n.679A>T c.402A>T (p.Ala134=) n.1300A>T c.346+1407A>T (n.346+1407A>T) c.504A>T (n.504A>T) c.1053A>T (p.Ala351=) c.953A>T (n.953A>T) c.1050A>T (p.Ala350=) n.918A>T c.237A>T (p.Ala79=) c.425A>T (n.425A>T) c.813A>T (p.Ala271=) c.1173A>T (p.Ala391=) c.1170A>T (p.Ala390=) c.438A>T (p.Ala146=)
7	g.151568764T>C	CA458668879	PRKAG2	c.459A>G (p.Ala153=) c.1182A>G (p.Ala394=) c.1185A>G (p.Ala395=) c.462A>G (p.Ala154=) c.245A>G c.810A>G (p.Ala270=) n.679A>G c.402A>G (p.Ala134=) n.1300A>G c.346+1407A>G (n.346+1407A>G) c.504A>G (n.504A>G) c.1053A>G (p.Ala351=) c.953A>G (n.953A>G) c.1050A>G (p.Ala350=) n.918A>G c.237A>G (p.Ala79=) c.425A>G (n.425A>G) c.813A>G (p.Ala271=) c.1173A>G (p.Ala391=) c.1170A>G (p.Ala390=) c.438A>G (p.Ala146=)	gnomAD v4
7	g.151568764T>G	CA458668877	PRKAG2	c.459A>C (p.Ala153=) c.1182A>C (p.Ala394=) c.1185A>C (p.Ala395=) c.462A>C (p.Ala154=) c.245A>C c.810A>C (p.Ala270=) n.679A>C c.402A>C (p.Ala134=) n.1300A>C c.346+1407A>C (n.346+1407A>C) c.504A>C (n.504A>C) c.1053A>C (p.Ala351=) c.953A>C (n.953A>C) c.1050A>C (p.Ala350=) n.918A>C c.237A>C (p.Ala79=) c.425A>C (n.425A>C) c.813A>C (p.Ala271=) c.1173A>C (p.Ala391=) c.1170A>C (p.Ala390=) c.438A>C (p.Ala146=)
7	g.151568765G>A	CA370071510	PRKAG2	c.458C>T (p.Ala153Val) c.1181C>T (p.Ala394Val) c.1184C>T (p.Ala395Val) c.461C>T (p.Ala154Val) c.244C>T c.809C>T (p.Ala270Val) n.678C>T c.401C>T (p.Ala134Val) n.1299C>T c.346+1406C>T (n.346+1406C>T) c.503C>T (n.503C>T) c.1052C>T (p.Ala351Val) c.952C>T (n.952C>T) c.1049C>T (p.Ala350Val) n.917C>T c.236C>T (p.Ala79Val) c.424C>T (n.424C>T) c.812C>T (p.Ala271Val) c.1172C>T (p.Ala391Val) c.1169C>T (p.Ala390Val) c.437C>T (p.Ala146Val)	ClinVar dbSNP gnomAD v4
7	g.151568765G>C	CA370071512	PRKAG2	c.458C>G (p.Ala153Gly) c.1181C>G (p.Ala394Gly) c.1184C>G (p.Ala395Gly) c.461C>G (p.Ala154Gly) c.244C>G c.809C>G (p.Ala270Gly) n.678C>G c.401C>G (p.Ala134Gly) n.1299C>G c.346+1406C>G (n.346+1406C>G) c.503C>G (n.503C>G) c.1052C>G (p.Ala351Gly) c.952C>G (n.952C>G) c.1049C>G (p.Ala350Gly) n.917C>G c.236C>G (p.Ala79Gly) c.424C>G (n.424C>G) c.812C>G (p.Ala271Gly) c.1172C>G (p.Ala391Gly) c.1169C>G (p.Ala390Gly) c.437C>G (p.Ala146Gly)
7	g.151568765G=	CA1752725565	PRKAG2	c.458C= (p.Ala153=) c.1181C= (p.Ala394=) c.1184C= (p.Ala395=) c.461C= (p.Ala154=) c.244C= c.809C= (p.Ala270=) n.678C= c.401C= (p.Ala134=) n.1299C= c.346+1406C= (n.346+1406C=) c.503C= (n.503C=) c.1052C= (p.Ala351=) c.952C= (n.952C=) c.1049C= (p.Ala350=) n.917C= c.236C= (p.Ala79=) c.424C= (n.424C=) c.812C= (p.Ala271=) c.1172C= (p.Ala391=) c.1169C= (p.Ala390=) c.437C= (p.Ala146=)
7	g.151568765G>T	CA370071511	PRKAG2	c.458C>A (p.Ala153Glu) c.1181C>A (p.Ala394Glu) c.1184C>A (p.Ala395Glu) c.461C>A (p.Ala154Glu) c.244C>A c.809C>A (p.Ala270Glu) n.678C>A c.401C>A (p.Ala134Glu) n.1299C>A c.346+1406C>A (n.346+1406C>A) c.503C>A (n.503C>A) c.1052C>A (p.Ala351Glu) c.952C>A (n.952C>A) c.1049C>A (p.Ala350Glu) n.917C>A c.236C>A (p.Ala79Glu) c.424C>A (n.424C>A) c.812C>A (p.Ala271Glu) c.1172C>A (p.Ala391Glu) c.1169C>A (p.Ala390Glu) c.437C>A (p.Ala146Glu)
7	g.151568766C>A	CA370071513	PRKAG2	c.457G>T (p.Ala153Ser) c.1180G>T (p.Ala394Ser) c.1183G>T (p.Ala395Ser) c.460G>T (p.Ala154Ser) c.243G>T c.808G>T (p.Ala270Ser) n.677G>T c.400G>T (p.Ala134Ser) n.1298G>T c.346+1405G>T (n.346+1405G>T) c.502G>T (n.502G>T) c.1051G>T (p.Ala351Ser) c.951G>T (n.951G>T) c.1048G>T (p.Ala350Ser) n.916G>T c.235G>T (p.Ala79Ser) c.423G>T (n.423G>T) c.811G>T (p.Ala271Ser) c.1171G>T (p.Ala391Ser) c.1168G>T (p.Ala390Ser) c.436G>T (p.Ala146Ser)
7	g.151568766C=	CA1752725568	PRKAG2	c.457G= (p.Ala153=) c.1180G= (p.Ala394=) c.1183G= (p.Ala395=) c.460G= (p.Ala154=) c.243G= c.808G= (p.Ala270=) n.677G= c.400G= (p.Ala134=) n.1298G= c.346+1405G= (n.346+1405G=) c.502G= (n.502G=) c.1051G= (p.Ala351=) c.951G= (n.951G=) c.1048G= (p.Ala350=) n.916G= c.235G= (p.Ala79=) c.423G= (n.423G=) c.811G= (p.Ala271=) c.1171G= (p.Ala391=) c.1168G= (p.Ala390=) c.436G= (p.Ala146=)
7	g.151568766C>G	CA169166209	PRKAG2	c.457G>C (p.Ala153Pro) c.1180G>C (p.Ala394Pro) c.1183G>C (p.Ala395Pro) c.460G>C (p.Ala154Pro) c.243G>C c.808G>C (p.Ala270Pro) n.677G>C c.400G>C (p.Ala134Pro) n.1298G>C c.346+1405G>C (n.346+1405G>C) c.502G>C (n.502G>C) c.1051G>C (p.Ala351Pro) c.951G>C (n.951G>C) c.1048G>C (p.Ala350Pro) n.916G>C c.235G>C (p.Ala79Pro) c.423G>C (n.423G>C) c.811G>C (p.Ala271Pro) c.1171G>C (p.Ala391Pro) c.1168G>C (p.Ala390Pro) c.436G>C (p.Ala146Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.151568766C>T	CA370071514	PRKAG2	c.457G>A (p.Ala153Thr) c.1180G>A (p.Ala394Thr) c.1183G>A (p.Ala395Thr) c.460G>A (p.Ala154Thr) c.243G>A c.808G>A (p.Ala270Thr) n.677G>A c.400G>A (p.Ala134Thr) n.1298G>A c.346+1405G>A (n.346+1405G>A) c.502G>A (n.502G>A) c.1051G>A (p.Ala351Thr) c.951G>A (n.951G>A) c.1048G>A (p.Ala350Thr) n.916G>A c.235G>A (p.Ala79Thr) c.423G>A (n.423G>A) c.811G>A (p.Ala271Thr) c.1171G>A (p.Ala391Thr) c.1168G>A (p.Ala390Thr) c.436G>A (p.Ala146Thr)
7	g.151568767A=	CA1752725571	PRKAG2	c.456T= (p.Asn152=) c.1179T= (p.Asn393=) c.1182T= (p.Asn394=) c.459T= (p.Asn153=) c.242T= c.807T= (p.Asn269=) n.676T= c.399T= (p.Asn133=) n.1297T= c.346+1404T= (n.346+1404T=) c.501T= (n.501T=) c.1050T= (p.Asn350=) c.950T= (n.950T=) c.1047T= (p.Asn349=) n.915T= c.234T= (p.Asn78=) c.422T= (n.422T=) c.810T= (p.Asn270=) c.1170T= (p.Asn390=) c.1167T= (p.Asn389=) c.435T= (p.Asn145=)
7	g.151568767A>C	CA370071515	PRKAG2	c.456T>G (p.Asn152Lys) c.1179T>G (p.Asn393Lys) c.1182T>G (p.Asn394Lys) c.459T>G (p.Asn153Lys) c.242T>G c.807T>G (p.Asn269Lys) n.676T>G c.399T>G (p.Asn133Lys) n.1297T>G c.346+1404T>G (n.346+1404T>G) c.501T>G (n.501T>G) c.1050T>G (p.Asn350Lys) c.950T>G (n.950T>G) c.1047T>G (p.Asn349Lys) n.915T>G c.234T>G (p.Asn78Lys) c.422T>G (n.422T>G) c.810T>G (p.Asn270Lys) c.1170T>G (p.Asn390Lys) c.1167T>G (p.Asn389Lys) c.435T>G (p.Asn145Lys)
7	g.151568767A>G	CA458668898	PRKAG2	c.456T>C (p.Asn152=) c.1179T>C (p.Asn393=) c.1182T>C (p.Asn394=) c.459T>C (p.Asn153=) c.242T>C c.807T>C (p.Asn269=) n.676T>C c.399T>C (p.Asn133=) n.1297T>C c.346+1404T>C (n.346+1404T>C) c.501T>C (n.501T>C) c.1050T>C (p.Asn350=) c.950T>C (n.950T>C) c.1047T>C (p.Asn349=) n.915T>C c.234T>C (p.Asn78=) c.422T>C (n.422T>C) c.810T>C (p.Asn270=) c.1170T>C (p.Asn390=) c.1167T>C (p.Asn389=) c.435T>C (p.Asn145=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.151568767A>T	CA370071516	PRKAG2	c.456T>A (p.Asn152Lys) c.1179T>A (p.Asn393Lys) c.1182T>A (p.Asn394Lys) c.459T>A (p.Asn153Lys) c.242T>A c.807T>A (p.Asn269Lys) n.676T>A c.399T>A (p.Asn133Lys) n.1297T>A c.346+1404T>A (n.346+1404T>A) c.501T>A (n.501T>A) c.1050T>A (p.Asn350Lys) c.950T>A (n.950T>A) c.1047T>A (p.Asn349Lys) n.915T>A c.234T>A (p.Asn78Lys) c.422T>A (n.422T>A) c.810T>A (p.Asn270Lys) c.1170T>A (p.Asn390Lys) c.1167T>A (p.Asn389Lys) c.435T>A (p.Asn145Lys)
7	g.151568768T>A	CA370071517	PRKAG2	c.455A>T (p.Asn152Ile) c.1178A>T (p.Asn393Ile) c.1181A>T (p.Asn394Ile) c.458A>T (p.Asn153Ile) c.241A>T c.806A>T (p.Asn269Ile) n.675A>T c.398A>T (p.Asn133Ile) n.1296A>T c.346+1403A>T (n.346+1403A>T) c.500A>T (n.500A>T) c.1049A>T (p.Asn350Ile) c.949A>T (n.949A>T) c.1046A>T (p.Asn349Ile) n.914A>T c.233A>T (p.Asn78Ile) c.421A>T (n.421A>T) c.809A>T (p.Asn270Ile) c.1169A>T (p.Asn390Ile) c.1166A>T (p.Asn389Ile) c.434A>T (p.Asn145Ile)
7	g.151568768T>C	CA370071518	PRKAG2	c.455A>G (p.Asn152Ser) c.1178A>G (p.Asn393Ser) c.1181A>G (p.Asn394Ser) c.458A>G (p.Asn153Ser) c.241A>G c.806A>G (p.Asn269Ser) n.675A>G c.398A>G (p.Asn133Ser) n.1296A>G c.346+1403A>G (n.346+1403A>G) c.500A>G (n.500A>G) c.1049A>G (p.Asn350Ser) c.949A>G (n.949A>G) c.1046A>G (p.Asn349Ser) n.914A>G c.233A>G (p.Asn78Ser) c.421A>G (n.421A>G) c.809A>G (p.Asn270Ser) c.1169A>G (p.Asn390Ser) c.1166A>G (p.Asn389Ser) c.434A>G (p.Asn145Ser)
7	g.151568768T>G	CA370071519	PRKAG2	c.455A>C (p.Asn152Thr) c.1178A>C (p.Asn393Thr) c.1181A>C (p.Asn394Thr) c.458A>C (p.Asn153Thr) c.241A>C c.806A>C (p.Asn269Thr) n.675A>C c.398A>C (p.Asn133Thr) n.1296A>C c.346+1403A>C (n.346+1403A>C) c.500A>C (n.500A>C) c.1049A>C (p.Asn350Thr) c.949A>C (n.949A>C) c.1046A>C (p.Asn349Thr) n.914A>C c.233A>C (p.Asn78Thr) c.421A>C (n.421A>C) c.809A>C (p.Asn270Thr) c.1169A>C (p.Asn390Thr) c.1166A>C (p.Asn389Thr) c.434A>C (p.Asn145Thr)
7	g.151568769T>A	CA370071520	PRKAG2	c.454A>T (p.Asn152Tyr) c.1177A>T (p.Asn393Tyr) c.1180A>T (p.Asn394Tyr) c.457A>T (p.Asn153Tyr) c.240A>T c.805A>T (p.Asn269Tyr) n.674A>T c.397A>T (p.Asn133Tyr) n.1295A>T c.346+1402A>T (n.346+1402A>T) c.499A>T (n.499A>T) c.1048A>T (p.Asn350Tyr) c.948A>T (n.948A>T) c.1045A>T (p.Asn349Tyr) n.913A>T c.232A>T (p.Asn78Tyr) c.420A>T (n.420A>T) c.808A>T (p.Asn270Tyr) c.1168A>T (p.Asn390Tyr) c.1165A>T (p.Asn389Tyr) c.433A>T (p.Asn145Tyr)
7	g.151568769T>C	CA370071521	PRKAG2	c.454A>G (p.Asn152Asp) c.1177A>G (p.Asn393Asp) c.1180A>G (p.Asn394Asp) c.457A>G (p.Asn153Asp) c.240A>G c.805A>G (p.Asn269Asp) n.674A>G c.397A>G (p.Asn133Asp) n.1295A>G c.346+1402A>G (n.346+1402A>G) c.499A>G (n.499A>G) c.1048A>G (p.Asn350Asp) c.948A>G (n.948A>G) c.1045A>G (p.Asn349Asp) n.913A>G c.232A>G (p.Asn78Asp) c.420A>G (n.420A>G) c.808A>G (p.Asn270Asp) c.1168A>G (p.Asn390Asp) c.1165A>G (p.Asn389Asp) c.433A>G (p.Asn145Asp)
7	g.151568769T>G	CA370071522	PRKAG2	c.454A>C (p.Asn152His) c.1177A>C (p.Asn393His) c.1180A>C (p.Asn394His) c.457A>C (p.Asn153His) c.240A>C c.805A>C (p.Asn269His) n.674A>C c.397A>C (p.Asn133His) n.1295A>C c.346+1402A>C (n.346+1402A>C) c.499A>C (n.499A>C) c.1048A>C (p.Asn350His) c.948A>C (n.948A>C) c.1045A>C (p.Asn349His) n.913A>C c.232A>C (p.Asn78His) c.420A>C (n.420A>C) c.808A>C (p.Asn270His) c.1168A>C (p.Asn390His) c.1165A>C (p.Asn389His) c.433A>C (p.Asn145His)
7	g.151568770C>A	CA458668915	PRKAG2	c.453G>T (p.Gly151=) c.1176G>T (p.Gly392=) c.1179G>T (p.Gly393=) c.456G>T (p.Gly152=) c.239G>T c.804G>T (p.Gly268=) n.673G>T c.396G>T (p.Gly132=) n.1294G>T c.346+1401G>T (n.346+1401G>T) c.498G>T (n.498G>T) c.1047G>T (p.Gly349=) c.947G>T (n.947G>T) c.1044G>T (p.Gly348=) n.912G>T c.231G>T (p.Gly77=) c.419G>T (n.419G>T) c.807G>T (p.Gly269=) c.1167G>T (p.Gly389=) c.1164G>T (p.Gly388=) c.432G>T (p.Gly144=)
7	g.151568770C>G	CA458668919	PRKAG2	c.453G>C (p.Gly151=) c.1176G>C (p.Gly392=) c.1179G>C (p.Gly393=) c.456G>C (p.Gly152=) c.239G>C c.804G>C (p.Gly268=) n.673G>C c.396G>C (p.Gly132=) n.1294G>C c.346+1401G>C (n.346+1401G>C) c.498G>C (n.498G>C) c.1047G>C (p.Gly349=) c.947G>C (n.947G>C) c.1044G>C (p.Gly348=) n.912G>C c.231G>C (p.Gly77=) c.419G>C (n.419G>C) c.807G>C (p.Gly269=) c.1167G>C (p.Gly389=) c.1164G>C (p.Gly388=) c.432G>C (p.Gly144=)
7	g.151568770C>T	CA458668916	PRKAG2	c.453G>A (p.Gly151=) c.1176G>A (p.Gly392=) c.1179G>A (p.Gly393=) c.456G>A (p.Gly152=) c.239G>A c.804G>A (p.Gly268=) n.673G>A c.396G>A (p.Gly132=) n.1294G>A c.346+1401G>A (n.346+1401G>A) c.498G>A (n.498G>A) c.1047G>A (p.Gly349=) c.947G>A (n.947G>A) c.1044G>A (p.Gly348=) n.912G>A c.231G>A (p.Gly77=) c.419G>A (n.419G>A) c.807G>A (p.Gly269=) c.1167G>A (p.Gly389=) c.1164G>A (p.Gly388=) c.432G>A (p.Gly144=)	gnomAD v4
7	g.151568771C>A	CA370071523	PRKAG2	c.452G>T (p.Gly151Val) c.1175G>T (p.Gly392Val) c.1178G>T (p.Gly393Val) c.455G>T (p.Gly152Val) c.238G>T c.803G>T (p.Gly268Val) n.672G>T c.395G>T (p.Gly132Val) n.1293G>T c.346+1400G>T (n.346+1400G>T) c.497G>T (n.497G>T) c.1046G>T (p.Gly349Val) c.946G>T (n.946G>T) c.1043G>T (p.Gly348Val) n.911G>T c.230G>T (p.Gly77Val) c.418G>T (n.418G>T) c.806G>T (p.Gly269Val) c.1166G>T (p.Gly389Val) c.1163G>T (p.Gly388Val) c.431G>T (p.Gly144Val)
7	g.151568771C>G	CA370071524	PRKAG2	c.452G>C (p.Gly151Ala) c.1175G>C (p.Gly392Ala) c.1178G>C (p.Gly393Ala) c.455G>C (p.Gly152Ala) c.238G>C c.803G>C (p.Gly268Ala) n.672G>C c.395G>C (p.Gly132Ala) n.1293G>C c.346+1400G>C (n.346+1400G>C) c.497G>C (n.497G>C) c.1046G>C (p.Gly349Ala) c.946G>C (n.946G>C) c.1043G>C (p.Gly348Ala) n.911G>C c.230G>C (p.Gly77Ala) c.418G>C (n.418G>C) c.806G>C (p.Gly269Ala) c.1166G>C (p.Gly389Ala) c.1163G>C (p.Gly388Ala) c.431G>C (p.Gly144Ala)
7	g.151568771C>T	CA370071525	PRKAG2	c.452G>A (p.Gly151Glu) c.1175G>A (p.Gly392Glu) c.1178G>A (p.Gly393Glu) c.455G>A (p.Gly152Glu) c.238G>A c.803G>A (p.Gly268Glu) n.672G>A c.395G>A (p.Gly132Glu) n.1293G>A c.346+1400G>A (n.346+1400G>A) c.497G>A (n.497G>A) c.1046G>A (p.Gly349Glu) c.946G>A (n.946G>A) c.1043G>A (p.Gly348Glu) n.911G>A c.230G>A (p.Gly77Glu) c.418G>A (n.418G>A) c.806G>A (p.Gly269Glu) c.1166G>A (p.Gly389Glu) c.1163G>A (p.Gly388Glu) c.431G>A (p.Gly144Glu)
7	g.151568772C>A	CA370071528	PRKAG2	c.451G>T (p.Gly151Trp) c.1174G>T (p.Gly392Trp) c.1177G>T (p.Gly393Trp) c.454G>T (p.Gly152Trp) c.237G>T c.802G>T (p.Gly268Trp) n.671G>T c.394G>T (p.Gly132Trp) n.1292G>T c.346+1399G>T (n.346+1399G>T) c.496G>T (n.496G>T) c.1045G>T (p.Gly349Trp) c.945G>T (n.945G>T) c.1042G>T (p.Gly348Trp) n.910G>T c.229G>T (p.Gly77Trp) c.417G>T (n.417G>T) c.805G>T (p.Gly269Trp) c.1165G>T (p.Gly389Trp) c.1162G>T (p.Gly388Trp) c.430G>T (p.Gly144Trp)
7	g.151568772C>G	CA370071527	PRKAG2	c.451G>C (p.Gly151Arg) c.1174G>C (p.Gly392Arg) c.1177G>C (p.Gly393Arg) c.454G>C (p.Gly152Arg) c.237G>C c.802G>C (p.Gly268Arg) n.671G>C c.394G>C (p.Gly132Arg) n.1292G>C c.346+1399G>C (n.346+1399G>C) c.496G>C (n.496G>C) c.1045G>C (p.Gly349Arg) c.945G>C (n.945G>C) c.1042G>C (p.Gly348Arg) n.910G>C c.229G>C (p.Gly77Arg) c.417G>C (n.417G>C) c.805G>C (p.Gly269Arg) c.1165G>C (p.Gly389Arg) c.1162G>C (p.Gly388Arg) c.430G>C (p.Gly144Arg)
7	g.151568772C>T	CA370071526	PRKAG2	c.451G>A (p.Gly151Arg) c.1174G>A (p.Gly392Arg) c.1177G>A (p.Gly393Arg) c.454G>A (p.Gly152Arg) c.237G>A c.802G>A (p.Gly268Arg) n.671G>A c.394G>A (p.Gly132Arg) n.1292G>A c.346+1399G>A (n.346+1399G>A) c.496G>A (n.496G>A) c.1045G>A (p.Gly349Arg) c.945G>A (n.945G>A) c.1042G>A (p.Gly348Arg) n.910G>A c.229G>A (p.Gly77Arg) c.417G>A (n.417G>A) c.805G>A (p.Gly269Arg) c.1165G>A (p.Gly389Arg) c.1162G>A (p.Gly388Arg) c.430G>A (p.Gly144Arg)
7	g.151568773A>C	CA370071529	PRKAG2	c.450T>G (p.Ser150Arg) c.1173T>G (p.Ser391Arg) c.1176T>G (p.Ser392Arg) c.453T>G (p.Ser151Arg) c.236T>G c.801T>G (p.Ser267Arg) n.670T>G c.393T>G (p.Ser131Arg) n.1291T>G c.346+1398T>G (n.346+1398T>G) c.495T>G (n.495T>G) c.1044T>G (p.Ser348Arg) c.944T>G (n.944T>G) c.1041T>G (p.Ser347Arg) n.909T>G c.228T>G (p.Ser76Arg) c.416T>G (n.416T>G) c.804T>G (p.Ser268Arg) c.1164T>G (p.Ser388Arg) c.1161T>G (p.Ser387Arg) c.429T>G (p.Ser143Arg)
7	g.151568773A>G	CA458668934	PRKAG2	c.450T>C (p.Ser150=) c.1173T>C (p.Ser391=) c.1176T>C (p.Ser392=) c.453T>C (p.Ser151=) c.236T>C c.801T>C (p.Ser267=) n.670T>C c.393T>C (p.Ser131=) n.1291T>C c.346+1398T>C (n.346+1398T>C) c.495T>C (n.495T>C) c.1044T>C (p.Ser348=) c.944T>C (n.944T>C) c.1041T>C (p.Ser347=) n.909T>C c.228T>C (p.Ser76=) c.416T>C (n.416T>C) c.804T>C (p.Ser268=) c.1164T>C (p.Ser388=) c.1161T>C (p.Ser387=) c.429T>C (p.Ser143=)
7	g.151568773A>T	CA370071530	PRKAG2	c.450T>A (p.Ser150Arg) c.1173T>A (p.Ser391Arg) c.1176T>A (p.Ser392Arg) c.453T>A (p.Ser151Arg) c.236T>A c.801T>A (p.Ser267Arg) n.670T>A c.393T>A (p.Ser131Arg) n.1291T>A c.346+1398T>A (n.346+1398T>A) c.495T>A (n.495T>A) c.1044T>A (p.Ser348Arg) c.944T>A (n.944T>A) c.1041T>A (p.Ser347Arg) n.909T>A c.228T>A (p.Ser76Arg) c.416T>A (n.416T>A) c.804T>A (p.Ser268Arg) c.1164T>A (p.Ser388Arg) c.1161T>A (p.Ser387Arg) c.429T>A (p.Ser143Arg)
7	g.151568774C>A	CA370071531	PRKAG2	c.449G>T (p.Ser150Ile) c.1172G>T (p.Ser391Ile) c.1175G>T (p.Ser392Ile) c.452G>T (p.Ser151Ile) c.235G>T c.800G>T (p.Ser267Ile) n.669G>T c.392G>T (p.Ser131Ile) n.1290G>T c.346+1397G>T (n.346+1397G>T) c.494G>T (n.494G>T) c.1043G>T (p.Ser348Ile) c.943G>T (n.943G>T) c.1040G>T (p.Ser347Ile) n.908G>T c.227G>T (p.Ser76Ile) c.415G>T (n.415G>T) c.803G>T (p.Ser268Ile) c.1163G>T (p.Ser388Ile) c.1160G>T (p.Ser387Ile) c.428G>T (p.Ser143Ile)
7	g.151568774C>G	CA370071532	PRKAG2	c.449G>C (p.Ser150Thr) c.1172G>C (p.Ser391Thr) c.1175G>C (p.Ser392Thr) c.452G>C (p.Ser151Thr) c.235G>C c.800G>C (p.Ser267Thr) n.669G>C c.392G>C (p.Ser131Thr) n.1290G>C c.346+1397G>C (n.346+1397G>C) c.494G>C (n.494G>C) c.1043G>C (p.Ser348Thr) c.943G>C (n.943G>C) c.1040G>C (p.Ser347Thr) n.908G>C c.227G>C (p.Ser76Thr) c.415G>C (n.415G>C) c.803G>C (p.Ser268Thr) c.1163G>C (p.Ser388Thr) c.1160G>C (p.Ser387Thr) c.428G>C (p.Ser143Thr)
7	g.151568774C>T	CA370071533	PRKAG2	c.449G>A (p.Ser150Asn) c.1172G>A (p.Ser391Asn) c.1175G>A (p.Ser392Asn) c.452G>A (p.Ser151Asn) c.235G>A c.800G>A (p.Ser267Asn) n.669G>A c.392G>A (p.Ser131Asn) n.1290G>A c.346+1397G>A (n.346+1397G>A) c.494G>A (n.494G>A) c.1043G>A (p.Ser348Asn) c.943G>A (n.943G>A) c.1040G>A (p.Ser347Asn) n.908G>A c.227G>A (p.Ser76Asn) c.415G>A (n.415G>A) c.803G>A (p.Ser268Asn) c.1163G>A (p.Ser388Asn) c.1160G>A (p.Ser387Asn) c.428G>A (p.Ser143Asn)
7	g.151568775T>A	CA370071534	PRKAG2	c.448A>T (p.Ser150Cys) c.1171A>T (p.Ser391Cys) c.1174A>T (p.Ser392Cys) c.451A>T (p.Ser151Cys) c.234A>T c.799A>T (p.Ser267Cys) n.668A>T c.391A>T (p.Ser131Cys) n.1289A>T c.346+1396A>T (n.346+1396A>T) c.493A>T (n.493A>T) c.1042A>T (p.Ser348Cys) c.942A>T (n.942A>T) c.1039A>T (p.Ser347Cys) n.907A>T c.226A>T (p.Ser76Cys) c.414A>T (n.414A>T) c.802A>T (p.Ser268Cys) c.1162A>T (p.Ser388Cys) c.1159A>T (p.Ser387Cys) c.427A>T (p.Ser143Cys)
7	g.151568775T>C	CA370071535	PRKAG2	c.448A>G (p.Ser150Gly) c.1171A>G (p.Ser391Gly) c.1174A>G (p.Ser392Gly) c.451A>G (p.Ser151Gly) c.234A>G c.799A>G (p.Ser267Gly) n.668A>G c.391A>G (p.Ser131Gly) n.1289A>G c.346+1396A>G (n.346+1396A>G) c.493A>G (n.493A>G) c.1042A>G (p.Ser348Gly) c.942A>G (n.942A>G) c.1039A>G (p.Ser347Gly) n.907A>G c.226A>G (p.Ser76Gly) c.414A>G (n.414A>G) c.802A>G (p.Ser268Gly) c.1162A>G (p.Ser388Gly) c.1159A>G (p.Ser387Gly) c.427A>G (p.Ser143Gly)	gnomAD v4
7	g.151568775T>G	CA370071536	PRKAG2	c.448A>C (p.Ser150Arg) c.1171A>C (p.Ser391Arg) c.1174A>C (p.Ser392Arg) c.451A>C (p.Ser151Arg) c.234A>C c.799A>C (p.Ser267Arg) n.668A>C c.391A>C (p.Ser131Arg) n.1289A>C c.346+1396A>C (n.346+1396A>C) c.493A>C (n.493A>C) c.1042A>C (p.Ser348Arg) c.942A>C (n.942A>C) c.1039A>C (p.Ser347Arg) n.907A>C c.226A>C (p.Ser76Arg) c.414A>C (n.414A>C) c.802A>C (p.Ser268Arg) c.1162A>C (p.Ser388Arg) c.1159A>C (p.Ser387Arg) c.427A>C (p.Ser143Arg)
7	g.151568776G>A	CA458668951	PRKAG2	c.447C>T (p.Ile149=) c.1170C>T (p.Ile390=) c.1173C>T (p.Ile391=) c.450C>T (p.Ile150=) c.233C>T c.798C>T (p.Ile266=) n.667C>T c.390C>T (p.Ile130=) n.1288C>T c.346+1395C>T (n.346+1395C>T) c.492C>T (n.492C>T) c.1041C>T (p.Ile347=) c.941C>T (n.941C>T) c.1038C>T (p.Ile346=) n.906C>T c.225C>T (p.Ile75=) c.413C>T (n.413C>T) c.801C>T (p.Ile267=) c.1161C>T (p.Ile387=) c.1158C>T (p.Ile386=) c.426C>T (p.Ile142=)	gnomAD v4
7	g.151568776G>C	CA370071537	PRKAG2	c.447C>G (p.Ile149Met) c.1170C>G (p.Ile390Met) c.1173C>G (p.Ile391Met) c.450C>G (p.Ile150Met) c.233C>G c.798C>G (p.Ile266Met) n.667C>G c.390C>G (p.Ile130Met) n.1288C>G c.346+1395C>G (n.346+1395C>G) c.492C>G (n.492C>G) c.1041C>G (p.Ile347Met) c.941C>G (n.941C>G) c.1038C>G (p.Ile346Met) n.906C>G c.225C>G (p.Ile75Met) c.413C>G (n.413C>G) c.801C>G (p.Ile267Met) c.1161C>G (p.Ile387Met) c.1158C>G (p.Ile386Met) c.426C>G (p.Ile142Met)
7	g.151568776G>T	CA458668953	PRKAG2	c.447C>A (p.Ile149=) c.1170C>A (p.Ile390=) c.1173C>A (p.Ile391=) c.450C>A (p.Ile150=) c.233C>A c.798C>A (p.Ile266=) n.667C>A c.390C>A (p.Ile130=) n.1288C>A c.346+1395C>A (n.346+1395C>A) c.492C>A (n.492C>A) c.1041C>A (p.Ile347=) c.941C>A (n.941C>A) c.1038C>A (p.Ile346=) n.906C>A c.225C>A (p.Ile75=) c.413C>A (n.413C>A) c.801C>A (p.Ile267=) c.1161C>A (p.Ile387=) c.1158C>A (p.Ile386=) c.426C>A (p.Ile142=)
7	g.151568777A=	CA1752725577	PRKAG2	c.446T= (p.Ile149=) c.1169T= (p.Ile390=) c.1172T= (p.Ile391=) c.449T= (p.Ile150=) c.232T= c.797T= (p.Ile266=) n.666T= c.389T= (p.Ile130=) n.1287T= c.346+1394T= (n.346+1394T=) c.491T= (n.491T=) c.1040T= (p.Ile347=) c.940T= (n.940T=) c.1037T= (p.Ile346=) n.905T= c.224T= (p.Ile75=) c.412T= (n.412T=) c.800T= (p.Ile267=) c.1160T= (p.Ile387=) c.1157T= (p.Ile386=) c.425T= (p.Ile142=)
7	g.151568777A>C	CA370071538	PRKAG2	c.446T>G (p.Ile149Ser) c.1169T>G (p.Ile390Ser) c.1172T>G (p.Ile391Ser) c.449T>G (p.Ile150Ser) c.232T>G c.797T>G (p.Ile266Ser) n.666T>G c.389T>G (p.Ile130Ser) n.1287T>G c.346+1394T>G (n.346+1394T>G) c.491T>G (n.491T>G) c.1040T>G (p.Ile347Ser) c.940T>G (n.940T>G) c.1037T>G (p.Ile346Ser) n.905T>G c.224T>G (p.Ile75Ser) c.412T>G (n.412T>G) c.800T>G (p.Ile267Ser) c.1160T>G (p.Ile387Ser) c.1157T>G (p.Ile386Ser) c.425T>G (p.Ile142Ser)
7	g.151568777A>G	CA370071539	PRKAG2	c.446T>C (p.Ile149Thr) c.1169T>C (p.Ile390Thr) c.1172T>C (p.Ile391Thr) c.449T>C (p.Ile150Thr) c.232T>C c.797T>C (p.Ile266Thr) n.666T>C c.389T>C (p.Ile130Thr) n.1287T>C c.346+1394T>C (n.346+1394T>C) c.491T>C (n.491T>C) c.1040T>C (p.Ile347Thr) c.940T>C (n.940T>C) c.1037T>C (p.Ile346Thr) n.905T>C c.224T>C (p.Ile75Thr) c.412T>C (n.412T>C) c.800T>C (p.Ile267Thr) c.1160T>C (p.Ile387Thr) c.1157T>C (p.Ile386Thr) c.425T>C (p.Ile142Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7	g.151568777A>T	CA370071540	PRKAG2	c.446T>A (p.Ile149Asn) c.1169T>A (p.Ile390Asn) c.1172T>A (p.Ile391Asn) c.449T>A (p.Ile150Asn) c.232T>A c.797T>A (p.Ile266Asn) n.666T>A c.389T>A (p.Ile130Asn) n.1287T>A c.346+1394T>A (n.346+1394T>A) c.491T>A (n.491T>A) c.1040T>A (p.Ile347Asn) c.940T>A (n.940T>A) c.1037T>A (p.Ile346Asn) n.905T>A c.224T>A (p.Ile75Asn) c.412T>A (n.412T>A) c.800T>A (p.Ile267Asn) c.1160T>A (p.Ile387Asn) c.1157T>A (p.Ile386Asn) c.425T>A (p.Ile142Asn)
7	g.151568778T>A	CA370071542	PRKAG2	c.445A>T (p.Ile149Phe) c.1168A>T (p.Ile390Phe) c.1171A>T (p.Ile391Phe) c.448A>T (p.Ile150Phe) c.231A>T c.796A>T (p.Ile266Phe) n.665A>T c.388A>T (p.Ile130Phe) n.1286A>T c.346+1393A>T (n.346+1393A>T) c.490A>T (n.490A>T) c.1039A>T (p.Ile347Phe) c.939A>T (n.939A>T) c.1036A>T (p.Ile346Phe) n.904A>T c.223A>T (p.Ile75Phe) c.411A>T (n.411A>T) c.799A>T (p.Ile267Phe) c.1159A>T (p.Ile387Phe) c.1156A>T (p.Ile386Phe) c.424A>T (p.Ile142Phe)
7	g.151568778T>C	CA169166211	PRKAG2	c.445A>G (p.Ile149Val) c.1168A>G (p.Ile390Val) c.1171A>G (p.Ile391Val) c.448A>G (p.Ile150Val) c.231A>G c.796A>G (p.Ile266Val) n.665A>G c.388A>G (p.Ile130Val) n.1286A>G c.346+1393A>G (n.346+1393A>G) c.490A>G (n.490A>G) c.1039A>G (p.Ile347Val) c.939A>G (n.939A>G) c.1036A>G (p.Ile346Val) n.904A>G c.223A>G (p.Ile75Val) c.411A>G (n.411A>G) c.799A>G (p.Ile267Val) c.1159A>G (p.Ile387Val) c.1156A>G (p.Ile386Val) c.424A>G (p.Ile142Val)	dbSNP gnomAD v4
7	g.151568778T>G	CA370071541	PRKAG2	c.445A>C (p.Ile149Leu) c.1168A>C (p.Ile390Leu) c.1171A>C (p.Ile391Leu) c.448A>C (p.Ile150Leu) c.231A>C c.796A>C (p.Ile266Leu) n.665A>C c.388A>C (p.Ile130Leu) n.1286A>C c.346+1393A>C (n.346+1393A>C) c.490A>C (n.490A>C) c.1039A>C (p.Ile347Leu) c.939A>C (n.939A>C) c.1036A>C (p.Ile346Leu) n.904A>C c.223A>C (p.Ile75Leu) c.411A>C (n.411A>C) c.799A>C (p.Ile267Leu) c.1159A>C (p.Ile387Leu) c.1156A>C (p.Ile386Leu) c.424A>C (p.Ile142Leu)
7	g.151568778T=	CA1752725581	PRKAG2	c.445A= (p.Ile149=) c.1168A= (p.Ile390=) c.1171A= (p.Ile391=) c.448A= (p.Ile150=) c.231A= c.796A= (p.Ile266=) n.665A= c.388A= (p.Ile130=) n.1286A= c.346+1393A= (n.346+1393A=) c.490A= (n.490A=) c.1039A= (p.Ile347=) c.939A= (n.939A=) c.1036A= (p.Ile346=) n.904A= c.223A= (p.Ile75=) c.411A= (n.411A=) c.799A= (p.Ile267=) c.1159A= (p.Ile387=) c.1156A= (p.Ile386=) c.424A= (p.Ile142=)
7	g.151568779A>C	CA458668971	PRKAG2	c.444T>G (p.Pro148=) c.1167T>G (p.Pro389=) c.1170T>G (p.Pro390=) c.447T>G (p.Pro149=) c.230T>G c.795T>G (p.Pro265=) n.664T>G c.387T>G (p.Pro129=) n.1285T>G c.346+1392T>G (n.346+1392T>G) c.489T>G (n.489T>G) c.1038T>G (p.Pro346=) c.938T>G (n.938T>G) c.1035T>G (p.Pro345=) n.903T>G c.222T>G (p.Pro74=) c.410T>G (n.410T>G) c.798T>G (p.Pro266=) c.1158T>G (p.Pro386=) c.1155T>G (p.Pro385=) c.423T>G (p.Pro141=)
7	g.151568779A>G	CA458668974	PRKAG2	c.444T>C (p.Pro148=) c.1167T>C (p.Pro389=) c.1170T>C (p.Pro390=) c.447T>C (p.Pro149=) c.230T>C c.795T>C (p.Pro265=) n.664T>C c.387T>C (p.Pro129=) n.1285T>C c.346+1392T>C (n.346+1392T>C) c.489T>C (n.489T>C) c.1038T>C (p.Pro346=) c.938T>C (n.938T>C) c.1035T>C (p.Pro345=) n.903T>C c.222T>C (p.Pro74=) c.410T>C (n.410T>C) c.798T>C (p.Pro266=) c.1158T>C (p.Pro386=) c.1155T>C (p.Pro385=) c.423T>C (p.Pro141=)
7	g.151568779A>T	CA458668976	PRKAG2	c.444T>A (p.Pro148=) c.1167T>A (p.Pro389=) c.1170T>A (p.Pro390=) c.447T>A (p.Pro149=) c.230T>A c.795T>A (p.Pro265=) n.664T>A c.387T>A (p.Pro129=) n.1285T>A c.346+1392T>A (n.346+1392T>A) c.489T>A (n.489T>A) c.1038T>A (p.Pro346=) c.938T>A (n.938T>A) c.1035T>A (p.Pro345=) n.903T>A c.222T>A (p.Pro74=) c.410T>A (n.410T>A) c.798T>A (p.Pro266=) c.1158T>A (p.Pro386=) c.1155T>A (p.Pro385=) c.423T>A (p.Pro141=)
7	g.151568780G>A	CA370071543	PRKAG2	c.443C>T (p.Pro148Leu) c.1166C>T (p.Pro389Leu) c.1169C>T (p.Pro390Leu) c.446C>T (p.Pro149Leu) c.229C>T c.794C>T (p.Pro265Leu) n.663C>T c.386C>T (p.Pro129Leu) n.1284C>T c.346+1391C>T (n.346+1391C>T) c.488C>T (n.488C>T) c.1037C>T (p.Pro346Leu) c.937C>T (n.937C>T) c.1034C>T (p.Pro345Leu) n.902C>T c.221C>T (p.Pro74Leu) c.409C>T (n.409C>T) c.797C>T (p.Pro266Leu) c.1157C>T (p.Pro386Leu) c.1154C>T (p.Pro385Leu) c.422C>T (p.Pro141Leu)	ClinVar dbSNP
7	g.151568780G>C	CA370071544	PRKAG2	c.443C>G (p.Pro148Arg) c.1166C>G (p.Pro389Arg) c.1169C>G (p.Pro390Arg) c.446C>G (p.Pro149Arg) c.229C>G c.794C>G (p.Pro265Arg) n.663C>G c.386C>G (p.Pro129Arg) n.1284C>G c.346+1391C>G (n.346+1391C>G) c.488C>G (n.488C>G) c.1037C>G (p.Pro346Arg) c.937C>G (n.937C>G) c.1034C>G (p.Pro345Arg) n.902C>G c.221C>G (p.Pro74Arg) c.409C>G (n.409C>G) c.797C>G (p.Pro266Arg) c.1157C>G (p.Pro386Arg) c.1154C>G (p.Pro385Arg) c.422C>G (p.Pro141Arg)
7	g.151568780G>T	CA370071545	PRKAG2	c.443C>A (p.Pro148His) c.1166C>A (p.Pro389His) c.1169C>A (p.Pro390His) c.446C>A (p.Pro149His) c.229C>A c.794C>A (p.Pro265His) n.663C>A c.386C>A (p.Pro129His) n.1284C>A c.346+1391C>A (n.346+1391C>A) c.488C>A (n.488C>A) c.1037C>A (p.Pro346His) c.937C>A (n.937C>A) c.1034C>A (p.Pro345His) n.902C>A c.221C>A (p.Pro74His) c.409C>A (n.409C>A) c.797C>A (p.Pro266His) c.1157C>A (p.Pro386His) c.1154C>A (p.Pro385His) c.422C>A (p.Pro141His)
7	g.151568781G>A	CA370071546	PRKAG2	c.442C>T (p.Pro148Ser) c.1165C>T (p.Pro389Ser) c.1168C>T (p.Pro390Ser) c.445C>T (p.Pro149Ser) c.228C>T c.793C>T (p.Pro265Ser) n.662C>T c.385C>T (p.Pro129Ser) n.1283C>T c.346+1390C>T (n.346+1390C>T) c.487C>T (n.487C>T) c.1036C>T (p.Pro346Ser) c.936C>T (n.936C>T) c.1033C>T (p.Pro345Ser) n.901C>T c.220C>T (p.Pro74Ser) c.408C>T (n.408C>T) c.796C>T (p.Pro266Ser) c.1156C>T (p.Pro386Ser) c.1153C>T (p.Pro385Ser) c.421C>T (p.Pro141Ser)
7	g.151568781G>C	CA370071547	PRKAG2	c.442C>G (p.Pro148Ala) c.1165C>G (p.Pro389Ala) c.1168C>G (p.Pro390Ala) c.445C>G (p.Pro149Ala) c.228C>G c.793C>G (p.Pro265Ala) n.662C>G c.385C>G (p.Pro129Ala) n.1283C>G c.346+1390C>G (n.346+1390C>G) c.487C>G (n.487C>G) c.1036C>G (p.Pro346Ala) c.936C>G (n.936C>G) c.1033C>G (p.Pro345Ala) n.901C>G c.220C>G (p.Pro74Ala) c.408C>G (n.408C>G) c.796C>G (p.Pro266Ala) c.1156C>G (p.Pro386Ala) c.1153C>G (p.Pro385Ala) c.421C>G (p.Pro141Ala)
7	g.151568781G>T	CA370071548	PRKAG2	c.442C>A (p.Pro148Thr) c.1165C>A (p.Pro389Thr) c.1168C>A (p.Pro390Thr) c.445C>A (p.Pro149Thr) c.228C>A c.793C>A (p.Pro265Thr) n.662C>A c.385C>A (p.Pro129Thr) n.1283C>A c.346+1390C>A (n.346+1390C>A) c.487C>A (n.487C>A) c.1036C>A (p.Pro346Thr) c.936C>A (n.936C>A) c.1033C>A (p.Pro345Thr) n.901C>A c.220C>A (p.Pro74Thr) c.408C>A (n.408C>A) c.796C>A (p.Pro266Thr) c.1156C>A (p.Pro386Thr) c.1153C>A (p.Pro385Thr) c.421C>A (p.Pro141Thr)
7	g.151568782G>A	CA458668990	PRKAG2	c.441C>T (p.Asp147=) c.1164C>T (p.Asp388=) c.1167C>T (p.Asp389=) c.444C>T (p.Asp148=) c.227C>T c.792C>T (p.Asp264=) n.661C>T c.384C>T (p.Asp128=) n.1282C>T c.346+1389C>T (n.346+1389C>T) c.486C>T (n.486C>T) c.1035C>T (p.Asp345=) c.935C>T (n.935C>T) c.1032C>T (p.Asp344=) n.900C>T c.219C>T (p.Asp73=) c.407C>T (n.407C>T) c.795C>T (p.Asp265=) c.1155C>T (p.Asp385=) c.1152C>T (p.Asp384=) c.420C>T (p.Asp140=)	COSMIC COSMIC
7	g.151568782G>C	CA370071549	PRKAG2	c.441C>G (p.Asp147Glu) c.1164C>G (p.Asp388Glu) c.1167C>G (p.Asp389Glu) c.444C>G (p.Asp148Glu) c.227C>G c.792C>G (p.Asp264Glu) n.661C>G c.384C>G (p.Asp128Glu) n.1282C>G c.346+1389C>G (n.346+1389C>G) c.486C>G (n.486C>G) c.1035C>G (p.Asp345Glu) c.935C>G (n.935C>G) c.1032C>G (p.Asp344Glu) n.900C>G c.219C>G (p.Asp73Glu) c.407C>G (n.407C>G) c.795C>G (p.Asp265Glu) c.1155C>G (p.Asp385Glu) c.1152C>G (p.Asp384Glu) c.420C>G (p.Asp140Glu)
7	g.151568782G>T	CA370071550	PRKAG2	c.441C>A (p.Asp147Glu) c.1164C>A (p.Asp388Glu) c.1167C>A (p.Asp389Glu) c.444C>A (p.Asp148Glu) c.227C>A c.792C>A (p.Asp264Glu) n.661C>A c.384C>A (p.Asp128Glu) n.1282C>A c.346+1389C>A (n.346+1389C>A) c.486C>A (n.486C>A) c.1035C>A (p.Asp345Glu) c.935C>A (n.935C>A) c.1032C>A (p.Asp344Glu) n.900C>A c.219C>A (p.Asp73Glu) c.407C>A (n.407C>A) c.795C>A (p.Asp265Glu) c.1155C>A (p.Asp385Glu) c.1152C>A (p.Asp384Glu) c.420C>A (p.Asp140Glu)
7	g.151568783T>A	CA370071551	PRKAG2	c.440A>T (p.Asp147Val) c.1163A>T (p.Asp388Val) c.1166A>T (p.Asp389Val) c.443A>T (p.Asp148Val) c.226A>T c.791A>T (p.Asp264Val) n.660A>T c.383A>T (p.Asp128Val) n.1281A>T c.346+1388A>T (n.346+1388A>T) c.485A>T (n.485A>T) c.1034A>T (p.Asp345Val) c.934A>T (n.934A>T) c.1031A>T (p.Asp344Val) n.899A>T c.218A>T (p.Asp73Val) c.406A>T (n.406A>T) c.794A>T (p.Asp265Val) c.1154A>T (p.Asp385Val) c.1151A>T (p.Asp384Val) c.419A>T (p.Asp140Val)
7	g.151568783T>C	CA370071552	PRKAG2	c.440A>G (p.Asp147Gly) c.1163A>G (p.Asp388Gly) c.1166A>G (p.Asp389Gly) c.443A>G (p.Asp148Gly) c.226A>G c.791A>G (p.Asp264Gly) n.660A>G c.383A>G (p.Asp128Gly) n.1281A>G c.346+1388A>G (n.346+1388A>G) c.485A>G (n.485A>G) c.1034A>G (p.Asp345Gly) c.934A>G (n.934A>G) c.1031A>G (p.Asp344Gly) n.899A>G c.218A>G (p.Asp73Gly) c.406A>G (n.406A>G) c.794A>G (p.Asp265Gly) c.1154A>G (p.Asp385Gly) c.1151A>G (p.Asp384Gly) c.419A>G (p.Asp140Gly)	gnomAD v4
7	g.151568783T>G	CA370071553	PRKAG2	c.440A>C (p.Asp147Ala) c.1163A>C (p.Asp388Ala) c.1166A>C (p.Asp389Ala) c.443A>C (p.Asp148Ala) c.226A>C c.791A>C (p.Asp264Ala) n.660A>C c.383A>C (p.Asp128Ala) n.1281A>C c.346+1388A>C (n.346+1388A>C) c.485A>C (n.485A>C) c.1034A>C (p.Asp345Ala) c.934A>C (n.934A>C) c.1031A>C (p.Asp344Ala) n.899A>C c.218A>C (p.Asp73Ala) c.406A>C (n.406A>C) c.794A>C (p.Asp265Ala) c.1154A>C (p.Asp385Ala) c.1151A>C (p.Asp384Ala) c.419A>C (p.Asp140Ala)
7	g.151568784C>A	CA370071554	PRKAG2	c.439G>T (p.Asp147Tyr) c.1162G>T (p.Asp388Tyr) c.1165G>T (p.Asp389Tyr) c.442G>T (p.Asp148Tyr) c.225G>T c.790G>T (p.Asp264Tyr) n.659G>T c.382G>T (p.Asp128Tyr) n.1280G>T c.346+1387G>T (n.346+1387G>T) c.484G>T (n.484G>T) c.1033G>T (p.Asp345Tyr) c.933G>T (n.933G>T) c.1030G>T (p.Asp344Tyr) n.898G>T c.217G>T (p.Asp73Tyr) c.405G>T (n.405G>T) c.793G>T (p.Asp265Tyr) c.1153G>T (p.Asp385Tyr) c.1150G>T (p.Asp384Tyr) c.418G>T (p.Asp140Tyr)
7	g.151568784C>G	CA370071555	PRKAG2	c.439G>C (p.Asp147His) c.1162G>C (p.Asp388His) c.1165G>C (p.Asp389His) c.442G>C (p.Asp148His) c.225G>C c.790G>C (p.Asp264His) n.659G>C c.382G>C (p.Asp128His) n.1280G>C c.346+1387G>C (n.346+1387G>C) c.484G>C (n.484G>C) c.1033G>C (p.Asp345His) c.933G>C (n.933G>C) c.1030G>C (p.Asp344His) n.898G>C c.217G>C (p.Asp73His) c.405G>C (n.405G>C) c.793G>C (p.Asp265His) c.1153G>C (p.Asp385His) c.1150G>C (p.Asp384His) c.418G>C (p.Asp140His)
7	g.151568784C>T	CA370071556	PRKAG2	c.439G>A (p.Asp147Asn) c.1162G>A (p.Asp388Asn) c.1165G>A (p.Asp389Asn) c.442G>A (p.Asp148Asn) c.225G>A c.790G>A (p.Asp264Asn) n.659G>A c.382G>A (p.Asp128Asn) n.1280G>A c.346+1387G>A (n.346+1387G>A) c.484G>A (n.484G>A) c.1033G>A (p.Asp345Asn) c.933G>A (n.933G>A) c.1030G>A (p.Asp344Asn) n.898G>A c.217G>A (p.Asp73Asn) c.405G>A (n.405G>A) c.793G>A (p.Asp265Asn) c.1153G>A (p.Asp385Asn) c.1150G>A (p.Asp384Asn) c.418G>A (p.Asp140Asn)
7	g.151568785A>C	CA370071557	PRKAG2	c.438T>G (p.Ile146Met) c.1161T>G (p.Ile387Met) c.1164T>G (p.Ile388Met) c.441T>G (p.Ile147Met) c.224T>G c.789T>G (p.Ile263Met) n.658T>G c.381T>G (p.Ile127Met) n.1279T>G c.346+1386T>G (n.346+1386T>G) c.483T>G (n.483T>G) c.1032T>G (p.Ile344Met) c.932T>G (n.932T>G) c.1029T>G (p.Ile343Met) n.897T>G c.216T>G (p.Ile72Met) c.404T>G (n.404T>G) c.792T>G (p.Ile264Met) c.1152T>G (p.Ile384Met) c.1149T>G (p.Ile383Met) c.417T>G (p.Ile139Met)	ClinVar
7	g.151568785A>G	CA458669008	PRKAG2	c.438T>C (p.Ile146=) c.1161T>C (p.Ile387=) c.1164T>C (p.Ile388=) c.441T>C (p.Ile147=) c.224T>C c.789T>C (p.Ile263=) n.658T>C c.381T>C (p.Ile127=) n.1279T>C c.346+1386T>C (n.346+1386T>C) c.483T>C (n.483T>C) c.1032T>C (p.Ile344=) c.932T>C (n.932T>C) c.1029T>C (p.Ile343=) n.897T>C c.216T>C (p.Ile72=) c.404T>C (n.404T>C) c.792T>C (p.Ile264=) c.1152T>C (p.Ile384=) c.1149T>C (p.Ile383=) c.417T>C (p.Ile139=)
7	g.151568785A>T	CA458669010	PRKAG2	c.438T>A (p.Ile146=) c.1161T>A (p.Ile387=) c.1164T>A (p.Ile388=) c.441T>A (p.Ile147=) c.224T>A c.789T>A (p.Ile263=) n.658T>A c.381T>A (p.Ile127=) n.1279T>A c.346+1386T>A (n.346+1386T>A) c.483T>A (n.483T>A) c.1032T>A (p.Ile344=) c.932T>A (n.932T>A) c.1029T>A (p.Ile343=) n.897T>A c.216T>A (p.Ile72=) c.404T>A (n.404T>A) c.792T>A (p.Ile264=) c.1152T>A (p.Ile384=) c.1149T>A (p.Ile383=) c.417T>A (p.Ile139=)
7	g.151568786A>C	CA370071558	PRKAG2	c.437T>G (p.Ile146Ser) c.1160T>G (p.Ile387Ser) c.1163T>G (p.Ile388Ser) c.440T>G (p.Ile147Ser) c.223T>G c.788T>G (p.Ile263Ser) n.657T>G c.380T>G (p.Ile127Ser) n.1278T>G c.346+1385T>G (n.346+1385T>G) c.482T>G (n.482T>G) c.1031T>G (p.Ile344Ser) c.931T>G (n.931T>G) c.1028T>G (p.Ile343Ser) n.896T>G c.215T>G (p.Ile72Ser) c.403T>G (n.403T>G) c.791T>G (p.Ile264Ser) c.1151T>G (p.Ile384Ser) c.1148T>G (p.Ile383Ser) c.416T>G (p.Ile139Ser)
7	g.151568786A>G	CA370071559	PRKAG2	c.437T>C (p.Ile146Thr) c.1160T>C (p.Ile387Thr) c.1163T>C (p.Ile388Thr) c.440T>C (p.Ile147Thr) c.223T>C c.788T>C (p.Ile263Thr) n.657T>C c.380T>C (p.Ile127Thr) n.1278T>C c.346+1385T>C (n.346+1385T>C) c.482T>C (n.482T>C) c.1031T>C (p.Ile344Thr) c.931T>C (n.931T>C) c.1028T>C (p.Ile343Thr) n.896T>C c.215T>C (p.Ile72Thr) c.403T>C (n.403T>C) c.791T>C (p.Ile264Thr) c.1151T>C (p.Ile384Thr) c.1148T>C (p.Ile383Thr) c.416T>C (p.Ile139Thr)
7	g.151568786A>T	CA370071560	PRKAG2	c.437T>A (p.Ile146Asn) c.1160T>A (p.Ile387Asn) c.1163T>A (p.Ile388Asn) c.440T>A (p.Ile147Asn) c.223T>A c.788T>A (p.Ile263Asn) n.657T>A c.380T>A (p.Ile127Asn) n.1278T>A c.346+1385T>A (n.346+1385T>A) c.482T>A (n.482T>A) c.1031T>A (p.Ile344Asn) c.931T>A (n.931T>A) c.1028T>A (p.Ile343Asn) n.896T>A c.215T>A (p.Ile72Asn) c.403T>A (n.403T>A) c.791T>A (p.Ile264Asn) c.1151T>A (p.Ile384Asn) c.1148T>A (p.Ile383Asn) c.416T>A (p.Ile139Asn)
7	g.151568787T>A	CA370071561	PRKAG2	c.436A>T (p.Ile146Phe) c.1159A>T (p.Ile387Phe) c.1162A>T (p.Ile388Phe) c.439A>T (p.Ile147Phe) c.222A>T c.787A>T (p.Ile263Phe) n.656A>T c.379A>T (p.Ile127Phe) n.1277A>T c.346+1384A>T (n.346+1384A>T) c.481A>T (n.481A>T) c.1030A>T (p.Ile344Phe) c.930A>T (n.930A>T) c.1027A>T (p.Ile343Phe) n.895A>T c.214A>T (p.Ile72Phe) c.402A>T (n.402A>T) c.790A>T (p.Ile264Phe) c.1150A>T (p.Ile384Phe) c.1147A>T (p.Ile383Phe) c.415A>T (p.Ile139Phe)	gnomAD v4
7	g.151568787T>C	CA370071562	PRKAG2	c.436A>G (p.Ile146Val) c.1159A>G (p.Ile387Val) c.1162A>G (p.Ile388Val) c.439A>G (p.Ile147Val) c.222A>G c.787A>G (p.Ile263Val) n.656A>G c.379A>G (p.Ile127Val) n.1277A>G c.346+1384A>G (n.346+1384A>G) c.481A>G (n.481A>G) c.1030A>G (p.Ile344Val) c.930A>G (n.930A>G) c.1027A>G (p.Ile343Val) n.895A>G c.214A>G (p.Ile72Val) c.402A>G (n.402A>G) c.790A>G (p.Ile264Val) c.1150A>G (p.Ile384Val) c.1147A>G (p.Ile383Val) c.415A>G (p.Ile139Val)	dbSNP COSMIC COSMIC
7	g.151568787T>G	CA370071563	PRKAG2	c.436A>C (p.Ile146Leu) c.1159A>C (p.Ile387Leu) c.1162A>C (p.Ile388Leu) c.439A>C (p.Ile147Leu) c.222A>C c.787A>C (p.Ile263Leu) n.656A>C c.379A>C (p.Ile127Leu) n.1277A>C c.346+1384A>C (n.346+1384A>C) c.481A>C (n.481A>C) c.1030A>C (p.Ile344Leu) c.930A>C (n.930A>C) c.1027A>C (p.Ile343Leu) n.895A>C c.214A>C (p.Ile72Leu) c.402A>C (n.402A>C) c.790A>C (p.Ile264Leu) c.1150A>C (p.Ile384Leu) c.1147A>C (p.Ile383Leu) c.415A>C (p.Ile139Leu)
7	g.151568787T=	CA1752725587	PRKAG2	c.436A= (p.Ile146=) c.1159A= (p.Ile387=) c.1162A= (p.Ile388=) c.439A= (p.Ile147=) c.222A= c.787A= (p.Ile263=) n.656A= c.379A= (p.Ile127=) n.1277A= c.346+1384A= (n.346+1384A=) c.481A= (n.481A=) c.1030A= (p.Ile344=) c.930A= (n.930A=) c.1027A= (p.Ile343=) n.895A= c.214A= (p.Ile72=) c.402A= (n.402A=) c.790A= (p.Ile264=) c.1150A= (p.Ile384=) c.1147A= (p.Ile383=) c.415A= (p.Ile139=)
7	g.151568788A=	CA1752725592	PRKAG2	c.435T= (p.Val145=) c.1158T= (p.Val386=) c.1161T= (p.Val387=) c.438T= (p.Val146=) c.221T= c.786T= (p.Val262=) n.655T= c.378T= (p.Val126=) n.1276T= c.346+1383T= (n.346+1383T=) c.480T= (n.480T=) c.1029T= (p.Val343=) c.929T= (n.929T=) c.1026T= (p.Val342=) n.894T= c.213T= (p.Val71=) c.401T= (n.401T=) c.789T= (p.Val263=) c.1149T= (p.Val383=) c.1146T= (p.Val382=) c.414T= (p.Val138=)
7	g.151568788A>C	CA458669026	PRKAG2	c.435T>G (p.Val145=) c.1158T>G (p.Val386=) c.1161T>G (p.Val387=) c.438T>G (p.Val146=) c.221T>G c.786T>G (p.Val262=) n.655T>G c.378T>G (p.Val126=) n.1276T>G c.346+1383T>G (n.346+1383T>G) c.480T>G (n.480T>G) c.1029T>G (p.Val343=) c.929T>G (n.929T>G) c.1026T>G (p.Val342=) n.894T>G c.213T>G (p.Val71=) c.401T>G (n.401T>G) c.789T>G (p.Val263=) c.1149T>G (p.Val383=) c.1146T>G (p.Val382=) c.414T>G (p.Val138=)
7	g.151568788A>G	CA054318	PRKAG2	c.435T>C (p.Val145=) c.1158T>C (p.Val386=) c.1161T>C (p.Val387=) c.438T>C (p.Val146=) c.221T>C c.786T>C (p.Val262=) n.655T>C c.378T>C (p.Val126=) n.1276T>C c.346+1383T>C (n.346+1383T>C) c.480T>C (n.480T>C) c.1029T>C (p.Val343=) c.929T>C (n.929T>C) c.1026T>C (p.Val342=) n.894T>C c.213T>C (p.Val71=) c.401T>C (n.401T>C) c.789T>C (p.Val263=) c.1149T>C (p.Val383=) c.1146T>C (p.Val382=) c.414T>C (p.Val138=)	dbSNP ExAC gnomAD v2
7	g.151568788A>T	CA458669030	PRKAG2	c.435T>A (p.Val145=) c.1158T>A (p.Val386=) c.1161T>A (p.Val387=) c.438T>A (p.Val146=) c.221T>A c.786T>A (p.Val262=) n.655T>A c.378T>A (p.Val126=) n.1276T>A c.346+1383T>A (n.346+1383T>A) c.480T>A (n.480T>A) c.1029T>A (p.Val343=) c.929T>A (n.929T>A) c.1026T>A (p.Val342=) n.894T>A c.213T>A (p.Val71=) c.401T>A (n.401T>A) c.789T>A (p.Val263=) c.1149T>A (p.Val383=) c.1146T>A (p.Val382=) c.414T>A (p.Val138=)
7	g.151568789A>C	CA370071564	PRKAG2	c.434T>G (p.Val145Gly) c.1157T>G (p.Val386Gly) c.1160T>G (p.Val387Gly) c.437T>G (p.Val146Gly) c.220T>G c.785T>G (p.Val262Gly) n.654T>G c.377T>G (p.Val126Gly) n.1275T>G c.346+1382T>G (n.346+1382T>G) c.479T>G (n.479T>G) c.1028T>G (p.Val343Gly) c.928T>G (n.928T>G) c.1025T>G (p.Val342Gly) n.893T>G c.212T>G (p.Val71Gly) c.400T>G (n.400T>G) c.788T>G (p.Val263Gly) c.1148T>G (p.Val383Gly) c.1145T>G (p.Val382Gly) c.413T>G (p.Val138Gly)
7	g.151568789A>G	CA370071565	PRKAG2	c.434T>C (p.Val145Ala) c.1157T>C (p.Val386Ala) c.1160T>C (p.Val387Ala) c.437T>C (p.Val146Ala) c.220T>C c.785T>C (p.Val262Ala) n.654T>C c.377T>C (p.Val126Ala) n.1275T>C c.346+1382T>C (n.346+1382T>C) c.479T>C (n.479T>C) c.1028T>C (p.Val343Ala) c.928T>C (n.928T>C) c.1025T>C (p.Val342Ala) n.893T>C c.212T>C (p.Val71Ala) c.400T>C (n.400T>C) c.788T>C (p.Val263Ala) c.1148T>C (p.Val383Ala) c.1145T>C (p.Val382Ala) c.413T>C (p.Val138Ala)
7	g.151568789A>T	CA370071566	PRKAG2	c.434T>A (p.Val145Asp) c.1157T>A (p.Val386Asp) c.1160T>A (p.Val387Asp) c.437T>A (p.Val146Asp) c.220T>A c.785T>A (p.Val262Asp) n.654T>A c.377T>A (p.Val126Asp) n.1275T>A c.346+1382T>A (n.346+1382T>A) c.479T>A (n.479T>A) c.1028T>A (p.Val343Asp) c.928T>A (n.928T>A) c.1025T>A (p.Val342Asp) n.893T>A c.212T>A (p.Val71Asp) c.400T>A (n.400T>A) c.788T>A (p.Val263Asp) c.1148T>A (p.Val383Asp) c.1145T>A (p.Val382Asp) c.413T>A (p.Val138Asp)
7	g.151568790C>A	CA370071567	PRKAG2	c.433G>T (p.Val145Phe) c.1156G>T (p.Val386Phe) c.1159G>T (p.Val387Phe) c.436G>T (p.Val146Phe) c.219G>T c.784G>T (p.Val262Phe) n.653G>T c.376G>T (p.Val126Phe) n.1274G>T c.346+1381G>T (n.346+1381G>T) c.478G>T (n.478G>T) c.1027G>T (p.Val343Phe) c.927G>T (n.927G>T) c.1024G>T (p.Val342Phe) n.892G>T c.211G>T (p.Val71Phe) c.399G>T (n.399G>T) c.787G>T (p.Val263Phe) c.1147G>T (p.Val383Phe) c.1144G>T (p.Val382Phe) c.412G>T (p.Val138Phe)
7	g.151568790C=	CA1752725599	PRKAG2	c.433G= (p.Val145=) c.1156G= (p.Val386=) c.1159G= (p.Val387=) c.436G= (p.Val146=) c.219G= c.784G= (p.Val262=) n.653G= c.376G= (p.Val126=) n.1274G= c.346+1381G= (n.346+1381G=) c.478G= (n.478G=) c.1027G= (p.Val343=) c.927G= (n.927G=) c.1024G= (p.Val342=) n.892G= c.211G= (p.Val71=) c.399G= (n.399G=) c.787G= (p.Val263=) c.1147G= (p.Val383=) c.1144G= (p.Val382=) c.412G= (p.Val138=)
7	g.151568790C>G	CA370071568	PRKAG2	c.433G>C (p.Val145Leu) c.1156G>C (p.Val386Leu) c.1159G>C (p.Val387Leu) c.436G>C (p.Val146Leu) c.219G>C c.784G>C (p.Val262Leu) n.653G>C c.376G>C (p.Val126Leu) n.1274G>C c.346+1381G>C (n.346+1381G>C) c.478G>C (n.478G>C) c.1027G>C (p.Val343Leu) c.927G>C (n.927G>C) c.1024G>C (p.Val342Leu) n.892G>C c.211G>C (p.Val71Leu) c.399G>C (n.399G>C) c.787G>C (p.Val263Leu) c.1147G>C (p.Val383Leu) c.1144G>C (p.Val382Leu) c.412G>C (p.Val138Leu)
7	g.151568790C>T	CA054308	PRKAG2	c.433G>A (p.Val145Ile) c.1156G>A (p.Val386Ile) c.1159G>A (p.Val387Ile) c.436G>A (p.Val146Ile) c.219G>A c.784G>A (p.Val262Ile) n.653G>A c.376G>A (p.Val126Ile) n.1274G>A c.346+1381G>A (n.346+1381G>A) c.478G>A (n.478G>A) c.1027G>A (p.Val343Ile) c.927G>A (n.927G>A) c.1024G>A (p.Val342Ile) n.892G>A c.211G>A (p.Val71Ile) c.399G>A (n.399G>A) c.787G>A (p.Val263Ile) c.1147G>A (p.Val383Ile) c.1144G>A (p.Val382Ile) c.412G>A (p.Val138Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
7	g.151568791G>A	CA054281	PRKAG2	c.432C>T (p.Pro144=) c.1155C>T (p.Pro385=) c.1158C>T (p.Pro386=) c.435C>T (p.Pro145=) c.218C>T c.783C>T (p.Pro261=) n.652C>T c.375C>T (p.Pro125=) n.1273C>T c.346+1380C>T (n.346+1380C>T) c.477C>T (n.477C>T) c.1026C>T (p.Pro342=) c.926C>T (n.926C>T) c.1023C>T (p.Pro341=) n.891C>T c.210C>T (p.Pro70=) c.398C>T (n.398C>T) c.786C>T (p.Pro262=) c.1146C>T (p.Pro382=) c.1143C>T (p.Pro381=) c.411C>T (p.Pro137=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7	g.151568791G>C	CA054273	PRKAG2	c.432C>G (p.Pro144=) c.1155C>G (p.Pro385=) c.1158C>G (p.Pro386=) c.435C>G (p.Pro145=) c.218C>G c.783C>G (p.Pro261=) n.652C>G c.375C>G (p.Pro125=) n.1273C>G c.346+1380C>G (n.346+1380C>G) c.477C>G (n.477C>G) c.1026C>G (p.Pro342=) c.926C>G (n.926C>G) c.1023C>G (p.Pro341=) n.891C>G c.210C>G (p.Pro70=) c.398C>G (n.398C>G) c.786C>G (p.Pro262=) c.1146C>G (p.Pro382=) c.1143C>G (p.Pro381=) c.411C>G (p.Pro137=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7	g.151568791G=	CA1752725608	PRKAG2	c.432C= (p.Pro144=) c.1155C= (p.Pro385=) c.1158C= (p.Pro386=) c.435C= (p.Pro145=) c.218C= c.783C= (p.Pro261=) n.652C= c.375C= (p.Pro125=) n.1273C= c.346+1380C= (n.346+1380C=) c.477C= (n.477C=) c.1026C= (p.Pro342=) c.926C= (n.926C=) c.1023C= (p.Pro341=) n.891C= c.210C= (p.Pro70=) c.398C= (n.398C=) c.786C= (p.Pro262=) c.1146C= (p.Pro382=) c.1143C= (p.Pro381=) c.411C= (p.Pro137=)
7	g.151568791G>T	CA458669042	PRKAG2	c.432C>A (p.Pro144=) c.1155C>A (p.Pro385=) c.1158C>A (p.Pro386=) c.435C>A (p.Pro145=) c.218C>A c.783C>A (p.Pro261=) n.652C>A c.375C>A (p.Pro125=) n.1273C>A c.346+1380C>A (n.346+1380C>A) c.477C>A (n.477C>A) c.1026C>A (p.Pro342=) c.926C>A (n.926C>A) c.1023C>A (p.Pro341=) n.891C>A c.210C>A (p.Pro70=) c.398C>A (n.398C>A) c.786C>A (p.Pro262=) c.1146C>A (p.Pro382=) c.1143C>A (p.Pro381=) c.411C>A (p.Pro137=)
7	g.151568792G>A	CA370071569	PRKAG2	c.431C>T (p.Pro144Leu) c.1154C>T (p.Pro385Leu) c.1157C>T (p.Pro386Leu) c.434C>T (p.Pro145Leu) c.217C>T c.782C>T (p.Pro261Leu) n.651C>T c.374C>T (p.Pro125Leu) n.1272C>T c.346+1379C>T (n.346+1379C>T) c.476C>T (n.476C>T) c.1025C>T (p.Pro342Leu) c.925C>T (n.925C>T) c.1022C>T (p.Pro341Leu) n.890C>T c.209C>T (p.Pro70Leu) c.397C>T (n.397C>T) c.785C>T (p.Pro262Leu) c.1145C>T (p.Pro382Leu) c.1142C>T (p.Pro381Leu) c.410C>T (p.Pro137Leu)	COSMIC COSMIC
7	g.151568792G>C	CA370071571	PRKAG2	c.431C>G (p.Pro144Arg) c.1154C>G (p.Pro385Arg) c.1157C>G (p.Pro386Arg) c.434C>G (p.Pro145Arg) c.217C>G c.782C>G (p.Pro261Arg) n.651C>G c.374C>G (p.Pro125Arg) n.1272C>G c.346+1379C>G (n.346+1379C>G) c.476C>G (n.476C>G) c.1025C>G (p.Pro342Arg) c.925C>G (n.925C>G) c.1022C>G (p.Pro341Arg) n.890C>G c.209C>G (p.Pro70Arg) c.397C>G (n.397C>G) c.785C>G (p.Pro262Arg) c.1145C>G (p.Pro382Arg) c.1142C>G (p.Pro381Arg) c.410C>G (p.Pro137Arg)
7	g.151568792G>T	CA370071570	PRKAG2	c.431C>A (p.Pro144His) c.1154C>A (p.Pro385His) c.1157C>A (p.Pro386His) c.434C>A (p.Pro145His) c.217C>A c.782C>A (p.Pro261His) n.651C>A c.374C>A (p.Pro125His) n.1272C>A c.346+1379C>A (n.346+1379C>A) c.476C>A (n.476C>A) c.1025C>A (p.Pro342His) c.925C>A (n.925C>A) c.1022C>A (p.Pro341His) n.890C>A c.209C>A (p.Pro70His) c.397C>A (n.397C>A) c.785C>A (p.Pro262His) c.1145C>A (p.Pro382His) c.1142C>A (p.Pro381His) c.410C>A (p.Pro137His)
7	g.151568793G>A	CA370071572	PRKAG2	c.430C>T (p.Pro144Ser) c.1153C>T (p.Pro385Ser) c.1156C>T (p.Pro386Ser) c.433C>T (p.Pro145Ser) c.216C>T c.781C>T (p.Pro261Ser) n.650C>T c.373C>T (p.Pro125Ser) n.1271C>T c.346+1378C>T (n.346+1378C>T) c.475C>T (n.475C>T) c.1024C>T (p.Pro342Ser) c.924C>T (n.924C>T) c.1021C>T (p.Pro341Ser) n.889C>T c.208C>T (p.Pro70Ser) c.396C>T (n.396C>T) c.784C>T (p.Pro262Ser) c.1144C>T (p.Pro382Ser) c.1141C>T (p.Pro381Ser) c.409C>T (p.Pro137Ser)
7	g.151568793G>C	CA370071573	PRKAG2	c.430C>G (p.Pro144Ala) c.1153C>G (p.Pro385Ala) c.1156C>G (p.Pro386Ala) c.433C>G (p.Pro145Ala) c.216C>G c.781C>G (p.Pro261Ala) n.650C>G c.373C>G (p.Pro125Ala) n.1271C>G c.346+1378C>G (n.346+1378C>G) c.475C>G (n.475C>G) c.1024C>G (p.Pro342Ala) c.924C>G (n.924C>G) c.1021C>G (p.Pro341Ala) n.889C>G c.208C>G (p.Pro70Ala) c.396C>G (n.396C>G) c.784C>G (p.Pro262Ala) c.1144C>G (p.Pro382Ala) c.1141C>G (p.Pro381Ala) c.409C>G (p.Pro137Ala)
7	g.151568793G>T	CA370071574	PRKAG2	c.430C>A (p.Pro144Thr) c.1153C>A (p.Pro385Thr) c.1156C>A (p.Pro386Thr) c.433C>A (p.Pro145Thr) c.216C>A c.781C>A (p.Pro261Thr) n.650C>A c.373C>A (p.Pro125Thr) n.1271C>A c.346+1378C>A (n.346+1378C>A) c.475C>A (n.475C>A) c.1024C>A (p.Pro342Thr) c.924C>A (n.924C>A) c.1021C>A (p.Pro341Thr) n.889C>A c.208C>A (p.Pro70Thr) c.396C>A (n.396C>A) c.784C>A (p.Pro262Thr) c.1144C>A (p.Pro382Thr) c.1141C>A (p.Pro381Thr) c.409C>A (p.Pro137Thr)
7	g.151568794C>A	CA370071575	PRKAG2	c.429G>T (p.Leu143Phe) c.1152G>T (p.Leu384Phe) c.1155G>T (p.Leu385Phe) c.432G>T (p.Leu144Phe) c.215G>T c.780G>T (p.Leu260Phe) n.649G>T c.372G>T (p.Leu124Phe) n.1270G>T c.346+1377G>T (n.346+1377G>T) c.474G>T (n.474G>T) c.1023G>T (p.Leu341Phe) c.923G>T (n.923G>T) c.1020G>T (p.Leu340Phe) n.888G>T c.207G>T (p.Leu69Phe) c.395G>T (n.395G>T) c.783G>T (p.Leu261Phe) c.1143G>T (p.Leu381Phe) c.1140G>T (p.Leu380Phe) c.408G>T (p.Leu136Phe)
7	g.151568794C>G	CA370071576	PRKAG2	c.429G>C (p.Leu143Phe) c.1152G>C (p.Leu384Phe) c.1155G>C (p.Leu385Phe) c.432G>C (p.Leu144Phe) c.215G>C c.780G>C (p.Leu260Phe) n.649G>C c.372G>C (p.Leu124Phe) n.1270G>C c.346+1377G>C (n.346+1377G>C) c.474G>C (n.474G>C) c.1023G>C (p.Leu341Phe) c.923G>C (n.923G>C) c.1020G>C (p.Leu340Phe) n.888G>C c.207G>C (p.Leu69Phe) c.395G>C (n.395G>C) c.783G>C (p.Leu261Phe) c.1143G>C (p.Leu381Phe) c.1140G>C (p.Leu380Phe) c.408G>C (p.Leu136Phe)
7	g.151568794C>T	CA458669047	PRKAG2	c.429G>A (p.Leu143=) c.1152G>A (p.Leu384=) c.1155G>A (p.Leu385=) c.432G>A (p.Leu144=) c.215G>A c.780G>A (p.Leu260=) n.649G>A c.372G>A (p.Leu124=) n.1270G>A c.346+1377G>A (n.346+1377G>A) c.474G>A (n.474G>A) c.1023G>A (p.Leu341=) c.923G>A (n.923G>A) c.1020G>A (p.Leu340=) n.888G>A c.207G>A (p.Leu69=) c.395G>A (n.395G>A) c.783G>A (p.Leu261=) c.1143G>A (p.Leu381=) c.1140G>A (p.Leu380=) c.408G>A (p.Leu136=)
7	g.151568795A>C	CA370071577	PRKAG2	c.428T>G (p.Leu143Trp) c.1151T>G (p.Leu384Trp) c.1154T>G (p.Leu385Trp) c.431T>G (p.Leu144Trp) c.214T>G c.779T>G (p.Leu260Trp) n.648T>G c.371T>G (p.Leu124Trp) n.1269T>G c.346+1376T>G (n.346+1376T>G) c.473T>G (n.473T>G) c.1022T>G (p.Leu341Trp) c.922T>G (n.922T>G) c.1019T>G (p.Leu340Trp) n.887T>G c.206T>G (p.Leu69Trp) c.394T>G (n.394T>G) c.782T>G (p.Leu261Trp) c.1142T>G (p.Leu381Trp) c.1139T>G (p.Leu380Trp) c.407T>G (p.Leu136Trp)
7	g.151568795A>G	CA370071578	PRKAG2	c.428T>C (p.Leu143Ser) c.1151T>C (p.Leu384Ser) c.1154T>C (p.Leu385Ser) c.431T>C (p.Leu144Ser) c.214T>C c.779T>C (p.Leu260Ser) n.648T>C c.371T>C (p.Leu124Ser) n.1269T>C c.346+1376T>C (n.346+1376T>C) c.473T>C (n.473T>C) c.1022T>C (p.Leu341Ser) c.922T>C (n.922T>C) c.1019T>C (p.Leu340Ser) n.887T>C c.206T>C (p.Leu69Ser) c.394T>C (n.394T>C) c.782T>C (p.Leu261Ser) c.1142T>C (p.Leu381Ser) c.1139T>C (p.Leu380Ser) c.407T>C (p.Leu136Ser)
7	g.151568795A>T	CA370071579	PRKAG2	c.428T>A (p.Leu143Ter) c.1151T>A (p.Leu384Ter) c.1154T>A (p.Leu385Ter) c.431T>A (p.Leu144Ter) c.214T>A c.779T>A (p.Leu260Ter) n.648T>A c.371T>A (p.Leu124Ter) n.1269T>A c.346+1376T>A (n.346+1376T>A) c.473T>A (n.473T>A) c.1022T>A (p.Leu341Ter) c.922T>A (n.922T>A) c.1019T>A (p.Leu340Ter) n.887T>A c.206T>A (p.Leu69Ter) c.394T>A (n.394T>A) c.782T>A (p.Leu261Ter) c.1142T>A (p.Leu381Ter) c.1139T>A (p.Leu380Ter) c.407T>A (p.Leu136Ter)
7	g.151568796A>C	CA370071580	PRKAG2	c.427T>G (p.Leu143Val) c.1150T>G (p.Leu384Val) c.1153T>G (p.Leu385Val) c.430T>G (p.Leu144Val) c.213T>G c.778T>G (p.Leu260Val) n.647T>G c.370T>G (p.Leu124Val) n.1268T>G c.346+1375T>G (n.346+1375T>G) c.472T>G (n.472T>G) c.1021T>G (p.Leu341Val) c.921T>G (n.921T>G) c.1018T>G (p.Leu340Val) n.886T>G c.205T>G (p.Leu69Val) c.393T>G (n.393T>G) c.781T>G (p.Leu261Val) c.1141T>G (p.Leu381Val) c.1138T>G (p.Leu380Val) c.406T>G (p.Leu136Val)
7	g.151568796A>G	CA458669050	PRKAG2	c.427T>C (p.Leu143=) c.1150T>C (p.Leu384=) c.1153T>C (p.Leu385=) c.430T>C (p.Leu144=) c.213T>C c.778T>C (p.Leu260=) n.647T>C c.370T>C (p.Leu124=) n.1268T>C c.346+1375T>C (n.346+1375T>C) c.472T>C (n.472T>C) c.1021T>C (p.Leu341=) c.921T>C (n.921T>C) c.1018T>C (p.Leu340=) n.886T>C c.205T>C (p.Leu69=) c.393T>C (n.393T>C) c.781T>C (p.Leu261=) c.1141T>C (p.Leu381=) c.1138T>C (p.Leu380=) c.406T>C (p.Leu136=)
7	g.151568796A>T	CA370071581	PRKAG2	c.427T>A (p.Leu143Met) c.1150T>A (p.Leu384Met) c.1153T>A (p.Leu385Met) c.430T>A (p.Leu144Met) c.213T>A c.778T>A (p.Leu260Met) n.647T>A c.370T>A (p.Leu124Met) n.1268T>A c.346+1375T>A (n.346+1375T>A) c.472T>A (n.472T>A) c.1021T>A (p.Leu341Met) c.921T>A (n.921T>A) c.1018T>A (p.Leu340Met) n.886T>A c.205T>A (p.Leu69Met) c.393T>A (n.393T>A) c.781T>A (p.Leu261Met) c.1141T>A (p.Leu381Met) c.1138T>A (p.Leu380Met) c.406T>A (p.Leu136Met)
7	g.151568797T>A	CA013647	PRKAG2	c.426A>T (p.Arg142Ser) c.1149A>T (p.Arg383Ser) c.1152A>T (p.Arg384Ser) c.429A>T (p.Arg143Ser) c.212A>T c.777A>T (p.Arg259Ser) n.646A>T c.369A>T (p.Arg123Ser) n.1267A>T c.346+1374A>T (n.346+1374A>T) c.471A>T (n.471A>T) c.1020A>T (p.Arg340Ser) c.920A>T (n.920A>T) c.1017A>T (p.Arg339Ser) n.885A>T c.204A>T (p.Arg68Ser) c.392A>T (n.392A>T) c.780A>T (p.Arg260Ser) c.1140A>T (p.Arg380Ser) c.1137A>T (p.Arg379Ser) c.405A>T (p.Arg135Ser)	ClinVar dbSNP
7	g.151568797T>C	CA458669051	PRKAG2	c.426A>G (p.Arg142=) c.1149A>G (p.Arg383=) c.1152A>G (p.Arg384=) c.429A>G (p.Arg143=) c.212A>G c.777A>G (p.Arg259=) n.646A>G c.369A>G (p.Arg123=) n.1267A>G c.346+1374A>G (n.346+1374A>G) c.471A>G (n.471A>G) c.1020A>G (p.Arg340=) c.920A>G (n.920A>G) c.1017A>G (p.Arg339=) n.885A>G c.204A>G (p.Arg68=) c.392A>G (n.392A>G) c.780A>G (p.Arg260=) c.1140A>G (p.Arg380=) c.1137A>G (p.Arg379=) c.405A>G (p.Arg135=)	dbSNP gnomAD v3 gnomAD v4
7	g.151568797T>G	CA370071582	PRKAG2	c.426A>C (p.Arg142Ser) c.1149A>C (p.Arg383Ser) c.1152A>C (p.Arg384Ser) c.429A>C (p.Arg143Ser) c.212A>C c.777A>C (p.Arg259Ser) n.646A>C c.369A>C (p.Arg123Ser) n.1267A>C c.346+1374A>C (n.346+1374A>C) c.471A>C (n.471A>C) c.1020A>C (p.Arg340Ser) c.920A>C (n.920A>C) c.1017A>C (p.Arg339Ser) n.885A>C c.204A>C (p.Arg68Ser) c.392A>C (n.392A>C) c.780A>C (p.Arg260Ser) c.1140A>C (p.Arg380Ser) c.1137A>C (p.Arg379Ser) c.405A>C (p.Arg135Ser)
7	g.151568797T=	CA1752725614	PRKAG2	c.426A= (p.Arg142=) c.1149A= (p.Arg383=) c.1152A= (p.Arg384=) c.429A= (p.Arg143=) c.212A= c.777A= (p.Arg259=) n.646A= c.369A= (p.Arg123=) n.1267A= c.346+1374A= (n.346+1374A=) c.471A= (n.471A=) c.1020A= (p.Arg340=) c.920A= (n.920A=) c.1017A= (p.Arg339=) n.885A= c.204A= (p.Arg68=) c.392A= (n.392A=) c.780A= (p.Arg260=) c.1140A= (p.Arg380=) c.1137A= (p.Arg379=) c.405A= (p.Arg135=)
7	g.151568798C>A	CA370071584	PRKAG2	c.425G>T (p.Arg142Ile) c.1148G>T (p.Arg383Ile) c.1151G>T (p.Arg384Ile) c.428G>T (p.Arg143Ile) c.211G>T c.776G>T (p.Arg259Ile) n.645G>T c.368G>T (p.Arg123Ile) n.1266G>T c.346+1373G>T (n.346+1373G>T) c.470G>T (n.470G>T) c.1019G>T (p.Arg340Ile) c.919G>T (n.919G>T) c.1016G>T (p.Arg339Ile) n.884G>T c.203G>T (p.Arg68Ile) c.391G>T (n.391G>T) c.779G>T (p.Arg260Ile) c.1139G>T (p.Arg380Ile) c.1136G>T (p.Arg379Ile) c.404G>T (p.Arg135Ile)
7	g.151568798C=	CA1752725629	PRKAG2	c.425G= (p.Arg142=) c.1148G= (p.Arg383=) c.1151G= (p.Arg384=) c.428G= (p.Arg143=) c.211G= c.776G= (p.Arg259=) n.645G= c.368G= (p.Arg123=) n.1266G= c.346+1373G= (n.346+1373G=) c.470G= (n.470G=) c.1019G= (p.Arg340=) c.919G= (n.919G=) c.1016G= (p.Arg339=) n.884G= c.203G= (p.Arg68=) c.391G= (n.391G=) c.779G= (p.Arg260=) c.1139G= (p.Arg380=) c.1136G= (p.Arg379=) c.404G= (p.Arg135=)
7	g.151568798C>G	CA013633	PRKAG2	c.425G>C (p.Arg142Thr) c.1148G>C (p.Arg383Thr) c.1151G>C (p.Arg384Thr) c.428G>C (p.Arg143Thr) c.211G>C c.776G>C (p.Arg259Thr) n.645G>C c.368G>C (p.Arg123Thr) n.1266G>C c.346+1373G>C (n.346+1373G>C) c.470G>C (n.470G>C) c.1019G>C (p.Arg340Thr) c.919G>C (n.919G>C) c.1016G>C (p.Arg339Thr) n.884G>C c.203G>C (p.Arg68Thr) c.391G>C (n.391G>C) c.779G>C (p.Arg260Thr) c.1139G>C (p.Arg380Thr) c.1136G>C (p.Arg379Thr) c.404G>C (p.Arg135Thr)	ClinVar dbSNP
7	g.151568798C>T	CA370071583	PRKAG2	c.425G>A (p.Arg142Lys) c.1148G>A (p.Arg383Lys) c.1151G>A (p.Arg384Lys) c.428G>A (p.Arg143Lys) c.211G>A c.776G>A (p.Arg259Lys) n.645G>A c.368G>A (p.Arg123Lys) n.1266G>A c.346+1373G>A (n.346+1373G>A) c.470G>A (n.470G>A) c.1019G>A (p.Arg340Lys) c.919G>A (n.919G>A) c.1016G>A (p.Arg339Lys) n.884G>A c.203G>A (p.Arg68Lys) c.391G>A (n.391G>A) c.779G>A (p.Arg260Lys) c.1139G>A (p.Arg380Lys) c.1136G>A (p.Arg379Lys) c.404G>A (p.Arg135Lys)
7	g.151568799T>A	CA370071585	PRKAG2	c.424A>T (p.Arg142Ter) c.1147A>T (p.Arg383Ter) c.1150A>T (p.Arg384Ter) c.427A>T (p.Arg143Ter) c.210A>T c.775A>T (p.Arg259Ter) n.644A>T c.367A>T (p.Arg123Ter) n.1265A>T c.346+1372A>T (n.346+1372A>T) c.469A>T (n.469A>T) c.1018A>T (p.Arg340Ter) c.918A>T (n.918A>T) c.1015A>T (p.Arg339Ter) n.883A>T c.202A>T (p.Arg68Ter) c.390A>T (n.390A>T) c.778A>T (p.Arg260Ter) c.1138A>T (p.Arg380Ter) c.1135A>T (p.Arg379Ter) c.403A>T (p.Arg135Ter)
7	g.151568799T>C	CA370071586	PRKAG2	c.424A>G (p.Arg142Gly) c.1147A>G (p.Arg383Gly) c.1150A>G (p.Arg384Gly) c.427A>G (p.Arg143Gly) c.210A>G c.775A>G (p.Arg259Gly) n.644A>G c.367A>G (p.Arg123Gly) n.1265A>G c.346+1372A>G (n.346+1372A>G) c.469A>G (n.469A>G) c.1018A>G (p.Arg340Gly) c.918A>G (n.918A>G) c.1015A>G (p.Arg339Gly) n.883A>G c.202A>G (p.Arg68Gly) c.390A>G (n.390A>G) c.778A>G (p.Arg260Gly) c.1138A>G (p.Arg380Gly) c.1135A>G (p.Arg379Gly) c.403A>G (p.Arg135Gly)
7	g.151568799T>G	CA458669055	PRKAG2	c.424A>C (p.Arg142=) c.1147A>C (p.Arg383=) c.1150A>C (p.Arg384=) c.427A>C (p.Arg143=) c.210A>C c.775A>C (p.Arg259=) n.644A>C c.367A>C (p.Arg123=) n.1265A>C c.346+1372A>C (n.346+1372A>C) c.469A>C (n.469A>C) c.1018A>C (p.Arg340=) c.918A>C (n.918A>C) c.1015A>C (p.Arg339=) n.883A>C c.202A>C (p.Arg68=) c.390A>C (n.390A>C) c.778A>C (p.Arg260=) c.1138A>C (p.Arg380=) c.1135A>C (p.Arg379=) c.403A>C (p.Arg135=)
7	g.151568801_151568802del	CA2685699983	PRKAG2	c.423_424del (p.His141GlnfsTer6) c.1146_1147del (p.His382GlnfsTer6) c.1149_1150del (p.His383GlnfsTer6) c.426_427del (p.His142GlnfsTer6) c.209_210del c.774_775del (p.His258GlnfsTer6) n.643_644del c.366_367del (p.His122GlnfsTer6) n.1264_1265del c.346+1371_346+1372del (n.346+1371_346+1372del) c.468_469del (n.468_469del) c.1017_1018del (p.His339GlnfsTer6) c.917_918del (n.917_918del) c.1014_1015del (p.His338GlnfsTer6) n.882_883del c.201_202del (p.His67GlnfsTer6) c.389_390del (n.389_390del) c.777_778del (p.His259GlnfsTer6) c.1137_1138del (p.His379GlnfsTer6) c.1134_1135del (p.His378GlnfsTer6) c.402_403del (p.His134GlnfsTer6)	gnomAD v4
7	g.151568800G>A	CA458669056	PRKAG2	c.423C>T (p.His141=) c.1146C>T (p.His382=) c.1149C>T (p.His383=) c.426C>T (p.His142=) c.209C>T c.774C>T (p.His258=) n.643C>T c.366C>T (p.His122=) n.1264C>T c.346+1371C>T (n.346+1371C>T) c.468C>T (n.468C>T) c.1017C>T (p.His339=) c.917C>T (n.917C>T) c.1014C>T (p.His338=) n.882C>T c.201C>T (p.His67=) c.389C>T (n.389C>T) c.777C>T (p.His259=) c.1137C>T (p.His379=) c.1134C>T (p.His378=) c.402C>T (p.His134=)
7	g.151568800G>C	CA370071587	PRKAG2	c.423C>G (p.His141Gln) c.1146C>G (p.His382Gln) c.1149C>G (p.His383Gln) c.426C>G (p.His142Gln) c.209C>G c.774C>G (p.His258Gln) n.643C>G c.366C>G (p.His122Gln) n.1264C>G c.346+1371C>G (n.346+1371C>G) c.468C>G (n.468C>G) c.1017C>G (p.His339Gln) c.917C>G (n.917C>G) c.1014C>G (p.His338Gln) n.882C>G c.201C>G (p.His67Gln) c.389C>G (n.389C>G) c.777C>G (p.His259Gln) c.1137C>G (p.His379Gln) c.1134C>G (p.His378Gln) c.402C>G (p.His134Gln)
7	g.151568800G>T	CA370071588	PRKAG2	c.423C>A (p.His141Gln) c.1146C>A (p.His382Gln) c.1149C>A (p.His383Gln) c.426C>A (p.His142Gln) c.209C>A c.774C>A (p.His258Gln) n.643C>A c.366C>A (p.His122Gln) n.1264C>A c.346+1371C>A (n.346+1371C>A) c.468C>A (n.468C>A) c.1017C>A (p.His339Gln) c.917C>A (n.917C>A) c.1014C>A (p.His338Gln) n.882C>A c.201C>A (p.His67Gln) c.389C>A (n.389C>A) c.777C>A (p.His259Gln) c.1137C>A (p.His379Gln) c.1134C>A (p.His378Gln) c.402C>A (p.His134Gln)	ClinVar
7	g.151568801T>A	CA370071589	PRKAG2	c.422A>T (p.His141Leu) c.1145A>T (p.His382Leu) c.1148A>T (p.His383Leu) c.425A>T (p.His142Leu) c.208A>T c.773A>T (p.His258Leu) n.642A>T c.365A>T (p.His122Leu) n.1263A>T c.346+1370A>T (n.346+1370A>T) c.467A>T (n.467A>T) c.1016A>T (p.His339Leu) c.916A>T (n.916A>T) c.1013A>T (p.His338Leu) n.881A>T c.200A>T (p.His67Leu) c.388A>T (n.388A>T) c.776A>T (p.His259Leu) c.1136A>T (p.His379Leu) c.1133A>T (p.His378Leu) c.401A>T (p.His134Leu)
7	g.151568801T>C	CA013609	PRKAG2	c.422A>G (p.His141Arg) c.1145A>G (p.His382Arg) c.1148A>G (p.His383Arg) c.425A>G (p.His142Arg) c.208A>G c.773A>G (p.His258Arg) n.642A>G c.365A>G (p.His122Arg) n.1263A>G c.346+1370A>G (n.346+1370A>G) c.467A>G (n.467A>G) c.1016A>G (p.His339Arg) c.916A>G (n.916A>G) c.1013A>G (p.His338Arg) n.881A>G c.200A>G (p.His67Arg) c.388A>G (n.388A>G) c.776A>G (p.His259Arg) c.1136A>G (p.His379Arg) c.1133A>G (p.His378Arg) c.401A>G (p.His134Arg)	ClinVar dbSNP
7	g.151568801T>G	CA370071590	PRKAG2	c.422A>C (p.His141Pro) c.1145A>C (p.His382Pro) c.1148A>C (p.His383Pro) c.425A>C (p.His142Pro) c.208A>C c.773A>C (p.His258Pro) n.642A>C c.365A>C (p.His122Pro) n.1263A>C c.346+1370A>C (n.346+1370A>C) c.467A>C (n.467A>C) c.1016A>C (p.His339Pro) c.916A>C (n.916A>C) c.1013A>C (p.His338Pro) n.881A>C c.200A>C (p.His67Pro) c.388A>C (n.388A>C) c.776A>C (p.His259Pro) c.1136A>C (p.His379Pro) c.1133A>C (p.His378Pro) c.401A>C (p.His134Pro)
7	g.151568801T=	CA1752725638	PRKAG2	c.422A= (p.His141=) c.1145A= (p.His382=) c.1148A= (p.His383=) c.425A= (p.His142=) c.208A= c.773A= (p.His258=) n.642A= c.365A= (p.His122=) n.1263A= c.346+1370A= (n.346+1370A=) c.467A= (n.467A=) c.1016A= (p.His339=) c.916A= (n.916A=) c.1013A= (p.His338=) n.881A= c.200A= (p.His67=) c.388A= (n.388A=) c.776A= (p.His259=) c.1136A= (p.His379=) c.1133A= (p.His378=) c.401A= (p.His134=)
7	g.151568802G>A	CA370071591	PRKAG2	c.421C>T (p.His141Tyr) c.1144C>T (p.His382Tyr) c.1147C>T (p.His383Tyr) c.424C>T (p.His142Tyr) c.207C>T c.772C>T (p.His258Tyr) n.641C>T c.364C>T (p.His122Tyr) n.1262C>T c.346+1369C>T (n.346+1369C>T) c.466C>T (n.466C>T) c.1015C>T (p.His339Tyr) c.915C>T (n.915C>T) c.1012C>T (p.His338Tyr) n.880C>T c.199C>T (p.His67Tyr) c.387C>T (n.387C>T) c.775C>T (p.His259Tyr) c.1135C>T (p.His379Tyr) c.1132C>T (p.His378Tyr) c.400C>T (p.His134Tyr)
7	g.151568802G>C	CA370071592	PRKAG2	c.421C>G (p.His141Asp) c.1144C>G (p.His382Asp) c.1147C>G (p.His383Asp) c.424C>G (p.His142Asp) c.207C>G c.772C>G (p.His258Asp) n.641C>G c.364C>G (p.His122Asp) n.1262C>G c.346+1369C>G (n.346+1369C>G) c.466C>G (n.466C>G) c.1015C>G (p.His339Asp) c.915C>G (n.915C>G) c.1012C>G (p.His338Asp) n.880C>G c.199C>G (p.His67Asp) c.387C>G (n.387C>G) c.775C>G (p.His259Asp) c.1135C>G (p.His379Asp) c.1132C>G (p.His378Asp) c.400C>G (p.His134Asp)
7	g.151568802G>T	CA370071593	PRKAG2	c.421C>A (p.His141Asn) c.1144C>A (p.His382Asn) c.1147C>A (p.His383Asn) c.424C>A (p.His142Asn) c.207C>A c.772C>A (p.His258Asn) n.641C>A c.364C>A (p.His122Asn) n.1262C>A c.346+1369C>A (n.346+1369C>A) c.466C>A (n.466C>A) c.1015C>A (p.His339Asn) c.915C>A (n.915C>A) c.1012C>A (p.His338Asn) n.880C>A c.199C>A (p.His67Asn) c.387C>A (n.387C>A) c.775C>A (p.His259Asn) c.1135C>A (p.His379Asn) c.1132C>A (p.His378Asn) c.400C>A (p.His134Asn)
7	g.151568803G>A	CA053787	PRKAG2	c.420C>T (p.Ile140=) c.1143C>T (p.Ile381=) c.1146C>T (p.Ile382=) c.423C>T (p.Ile141=) c.206C>T c.771C>T (p.Ile257=) n.640C>T c.363C>T (p.Ile121=) n.1261C>T c.346+1368C>T (n.346+1368C>T) c.465C>T (n.465C>T) c.1014C>T (p.Ile338=) c.914C>T (n.914C>T) c.1011C>T (p.Ile337=) n.879C>T c.198C>T (p.Ile66=) c.386C>T (n.386C>T) c.774C>T (p.Ile258=) c.1134C>T (p.Ile378=) c.1131C>T (p.Ile377=) c.399C>T (p.Ile133=)	dbSNP ExAC gnomAD v2 gnomAD v4
7	g.151568803G>C	CA370071594	PRKAG2	c.420C>G (p.Ile140Met) c.1143C>G (p.Ile381Met) c.1146C>G (p.Ile382Met) c.423C>G (p.Ile141Met) c.206C>G c.771C>G (p.Ile257Met) n.640C>G c.363C>G (p.Ile121Met) n.1261C>G c.346+1368C>G (n.346+1368C>G) c.465C>G (n.465C>G) c.1014C>G (p.Ile338Met) c.914C>G (n.914C>G) c.1011C>G (p.Ile337Met) n.879C>G c.198C>G (p.Ile66Met) c.386C>G (n.386C>G) c.774C>G (p.Ile258Met) c.1134C>G (p.Ile378Met) c.1131C>G (p.Ile377Met) c.399C>G (p.Ile133Met)
7	g.151568803G=	CA1752725646	PRKAG2	c.420C= (p.Ile140=) c.1143C= (p.Ile381=) c.1146C= (p.Ile382=) c.423C= (p.Ile141=) c.206C= c.771C= (p.Ile257=) n.640C= c.363C= (p.Ile121=) n.1261C= c.346+1368C= (n.346+1368C=) c.465C= (n.465C=) c.1014C= (p.Ile338=) c.914C= (n.914C=) c.1011C= (p.Ile337=) n.879C= c.198C= (p.Ile66=) c.386C= (n.386C=) c.774C= (p.Ile258=) c.1134C= (p.Ile378=) c.1131C= (p.Ile377=) c.399C= (p.Ile133=)
7	g.151568803G>T	CA458669059	PRKAG2	c.420C>A (p.Ile140=) c.1143C>A (p.Ile381=) c.1146C>A (p.Ile382=) c.423C>A (p.Ile141=) c.206C>A c.771C>A (p.Ile257=) n.640C>A c.363C>A (p.Ile121=) n.1261C>A c.346+1368C>A (n.346+1368C>A) c.465C>A (n.465C>A) c.1014C>A (p.Ile338=) c.914C>A (n.914C>A) c.1011C>A (p.Ile337=) n.879C>A c.198C>A (p.Ile66=) c.386C>A (n.386C>A) c.774C>A (p.Ile258=) c.1134C>A (p.Ile378=) c.1131C>A (p.Ile377=) c.399C>A (p.Ile133=)
7	g.151568804A>C	CA370071597	PRKAG2	c.419T>G (p.Ile140Ser) c.1142T>G (p.Ile381Ser) c.1145T>G (p.Ile382Ser) c.422T>G (p.Ile141Ser) c.205T>G c.770T>G (p.Ile257Ser) n.639T>G c.362T>G (p.Ile121Ser) n.1260T>G c.346+1367T>G (n.346+1367T>G) c.464T>G (n.464T>G) c.1013T>G (p.Ile338Ser) c.913T>G (n.913T>G) c.1010T>G (p.Ile337Ser) n.878T>G c.197T>G (p.Ile66Ser) c.385T>G (n.385T>G) c.773T>G (p.Ile258Ser) c.1133T>G (p.Ile378Ser) c.1130T>G (p.Ile377Ser) c.398T>G (p.Ile133Ser)
7	g.151568804A>G	CA370071596	PRKAG2	c.419T>C (p.Ile140Thr) c.1142T>C (p.Ile381Thr) c.1145T>C (p.Ile382Thr) c.422T>C (p.Ile141Thr) c.205T>C c.770T>C (p.Ile257Thr) n.639T>C c.362T>C (p.Ile121Thr) n.1260T>C c.346+1367T>C (n.346+1367T>C) c.464T>C (n.464T>C) c.1013T>C (p.Ile338Thr) c.913T>C (n.913T>C) c.1010T>C (p.Ile337Thr) n.878T>C c.197T>C (p.Ile66Thr) c.385T>C (n.385T>C) c.773T>C (p.Ile258Thr) c.1133T>C (p.Ile378Thr) c.1130T>C (p.Ile377Thr) c.398T>C (p.Ile133Thr)
7	g.151568804A>T	CA370071595	PRKAG2	c.419T>A (p.Ile140Asn) c.1142T>A (p.Ile381Asn) c.1145T>A (p.Ile382Asn) c.422T>A (p.Ile141Asn) c.205T>A c.770T>A (p.Ile257Asn) n.639T>A c.362T>A (p.Ile121Asn) n.1260T>A c.346+1367T>A (n.346+1367T>A) c.464T>A (n.464T>A) c.1013T>A (p.Ile338Asn) c.913T>A (n.913T>A) c.1010T>A (p.Ile337Asn) n.878T>A c.197T>A (p.Ile66Asn) c.385T>A (n.385T>A) c.773T>A (p.Ile258Asn) c.1133T>A (p.Ile378Asn) c.1130T>A (p.Ile377Asn) c.398T>A (p.Ile133Asn)
7	g.151568805T>A	CA370071598	PRKAG2	c.418A>T (p.Ile140Phe) c.1141A>T (p.Ile381Phe) c.1144A>T (p.Ile382Phe) c.421A>T (p.Ile141Phe) c.204A>T c.769A>T (p.Ile257Phe) n.638A>T c.361A>T (p.Ile121Phe) n.1259A>T c.346+1366A>T (n.346+1366A>T) c.463A>T (n.463A>T) c.1012A>T (p.Ile338Phe) c.912A>T (n.912A>T) c.1009A>T (p.Ile337Phe) n.877A>T c.196A>T (p.Ile66Phe) c.384A>T (n.384A>T) c.772A>T (p.Ile258Phe) c.1132A>T (p.Ile378Phe) c.1129A>T (p.Ile377Phe) c.397A>T (p.Ile133Phe)
7	g.151568805T>C	CA370071599	PRKAG2	c.418A>G (p.Ile140Val) c.1141A>G (p.Ile381Val) c.1144A>G (p.Ile382Val) c.421A>G (p.Ile141Val) c.204A>G c.769A>G (p.Ile257Val) n.638A>G c.361A>G (p.Ile121Val) n.1259A>G c.346+1366A>G (n.346+1366A>G) c.463A>G (n.463A>G) c.1012A>G (p.Ile338Val) c.912A>G (n.912A>G) c.1009A>G (p.Ile337Val) n.877A>G c.196A>G (p.Ile66Val) c.384A>G (n.384A>G) c.772A>G (p.Ile258Val) c.1132A>G (p.Ile378Val) c.1129A>G (p.Ile377Val) c.397A>G (p.Ile133Val)
7	g.151568805T>G	CA370071600	PRKAG2	c.418A>C (p.Ile140Leu) c.1141A>C (p.Ile381Leu) c.1144A>C (p.Ile382Leu) c.421A>C (p.Ile141Leu) c.204A>C c.769A>C (p.Ile257Leu) n.638A>C c.361A>C (p.Ile121Leu) n.1259A>C c.346+1366A>C (n.346+1366A>C) c.463A>C (n.463A>C) c.1012A>C (p.Ile338Leu) c.912A>C (n.912A>C) c.1009A>C (p.Ile337Leu) n.877A>C c.196A>C (p.Ile66Leu) c.384A>C (n.384A>C) c.772A>C (p.Ile258Leu) c.1132A>C (p.Ile378Leu) c.1129A>C (p.Ile377Leu) c.397A>C (p.Ile133Leu)
7	g.151568806T>A	CA370071601	PRKAG2	c.417A>T (p.Lys139Asn) c.1140A>T (p.Lys380Asn) c.1143A>T (p.Lys381Asn) c.420A>T (p.Lys140Asn) c.203A>T c.768A>T (p.Lys256Asn) n.637A>T c.360A>T (p.Lys120Asn) n.1258A>T c.346+1365A>T (n.346+1365A>T) c.462A>T (n.462A>T) c.1011A>T (p.Lys337Asn) c.911A>T (n.911A>T) c.1008A>T (p.Lys336Asn) n.876A>T c.195A>T (p.Lys65Asn) c.383A>T (n.383A>T) c.771A>T (p.Lys257Asn) c.1131A>T (p.Lys377Asn) c.1128A>T (p.Lys376Asn) c.396A>T (p.Lys132Asn)
7	g.151568806T>C	CA458669063	PRKAG2	c.417A>G (p.Lys139=) c.1140A>G (p.Lys380=) c.1143A>G (p.Lys381=) c.420A>G (p.Lys140=) c.203A>G c.768A>G (p.Lys256=) n.637A>G c.360A>G (p.Lys120=) n.1258A>G c.346+1365A>G (n.346+1365A>G) c.462A>G (n.462A>G) c.1011A>G (p.Lys337=) c.911A>G (n.911A>G) c.1008A>G (p.Lys336=) n.876A>G c.195A>G (p.Lys65=) c.383A>G (n.383A>G) c.771A>G (p.Lys257=) c.1131A>G (p.Lys377=) c.1128A>G (p.Lys376=) c.396A>G (p.Lys132=)
7	g.151568806T>G	CA370071602	PRKAG2	c.417A>C (p.Lys139Asn) c.1140A>C (p.Lys380Asn) c.1143A>C (p.Lys381Asn) c.420A>C (p.Lys140Asn) c.203A>C c.768A>C (p.Lys256Asn) n.637A>C c.360A>C (p.Lys120Asn) n.1258A>C c.346+1365A>C (n.346+1365A>C) c.462A>C (n.462A>C) c.1011A>C (p.Lys337Asn) c.911A>C (n.911A>C) c.1008A>C (p.Lys336Asn) n.876A>C c.195A>C (p.Lys65Asn) c.383A>C (n.383A>C) c.771A>C (p.Lys257Asn) c.1131A>C (p.Lys377Asn) c.1128A>C (p.Lys376Asn) c.396A>C (p.Lys132Asn)
7	g.151568807T>A	CA370071603	PRKAG2	c.416A>T (p.Lys139Ile) c.1139A>T (p.Lys380Ile) c.1142A>T (p.Lys381Ile) c.419A>T (p.Lys140Ile) c.202A>T c.767A>T (p.Lys256Ile) n.636A>T c.359A>T (p.Lys120Ile) n.1257A>T c.346+1364A>T (n.346+1364A>T) c.461A>T (n.461A>T) c.1010A>T (p.Lys337Ile) c.910A>T (n.910A>T) c.1007A>T (p.Lys336Ile) n.875A>T c.194A>T (p.Lys65Ile) c.382A>T (n.382A>T) c.770A>T (p.Lys257Ile) c.1130A>T (p.Lys377Ile) c.1127A>T (p.Lys376Ile) c.395A>T (p.Lys132Ile)
7	g.151568807T>C	CA370071604	PRKAG2	c.416A>G (p.Lys139Arg) c.1139A>G (p.Lys380Arg) c.1142A>G (p.Lys381Arg) c.419A>G (p.Lys140Arg) c.202A>G c.767A>G (p.Lys256Arg) n.636A>G c.359A>G (p.Lys120Arg) n.1257A>G c.346+1364A>G (n.346+1364A>G) c.461A>G (n.461A>G) c.1010A>G (p.Lys337Arg) c.910A>G (n.910A>G) c.1007A>G (p.Lys336Arg) n.875A>G c.194A>G (p.Lys65Arg) c.382A>G (n.382A>G) c.770A>G (p.Lys257Arg) c.1130A>G (p.Lys377Arg) c.1127A>G (p.Lys376Arg) c.395A>G (p.Lys132Arg)
7	g.151568807T>G	CA370071605	PRKAG2	c.416A>C (p.Lys139Thr) c.1139A>C (p.Lys380Thr) c.1142A>C (p.Lys381Thr) c.419A>C (p.Lys140Thr) c.202A>C c.767A>C (p.Lys256Thr) n.636A>C c.359A>C (p.Lys120Thr) n.1257A>C c.346+1364A>C (n.346+1364A>C) c.461A>C (n.461A>C) c.1010A>C (p.Lys337Thr) c.910A>C (n.910A>C) c.1007A>C (p.Lys336Thr) n.875A>C c.194A>C (p.Lys65Thr) c.382A>C (n.382A>C) c.770A>C (p.Lys257Thr) c.1130A>C (p.Lys377Thr) c.1127A>C (p.Lys376Thr) c.395A>C (p.Lys132Thr)
7	g.151568808T>A	CA370071606	PRKAG2	c.415A>T (p.Lys139Ter) c.1138A>T (p.Lys380Ter) c.1141A>T (p.Lys381Ter) c.418A>T (p.Lys140Ter) c.201A>T c.766A>T (p.Lys256Ter) n.635A>T c.358A>T (p.Lys120Ter) n.1256A>T c.346+1363A>T (n.346+1363A>T) c.460A>T (n.460A>T) c.1009A>T (p.Lys337Ter) c.909A>T (n.909A>T) c.1006A>T (p.Lys336Ter) n.874A>T c.193A>T (p.Lys65Ter) c.381A>T (n.381A>T) c.769A>T (p.Lys257Ter) c.1129A>T (p.Lys377Ter) c.1126A>T (p.Lys376Ter) c.394A>T (p.Lys132Ter)
7	g.151568808T>C	CA370071607	PRKAG2	c.415A>G (p.Lys139Glu) c.1138A>G (p.Lys380Glu) c.1141A>G (p.Lys381Glu) c.418A>G (p.Lys140Glu) c.201A>G c.766A>G (p.Lys256Glu) n.635A>G c.358A>G (p.Lys120Glu) n.1256A>G c.346+1363A>G (n.346+1363A>G) c.460A>G (n.460A>G) c.1009A>G (p.Lys337Glu) c.909A>G (n.909A>G) c.1006A>G (p.Lys336Glu) n.874A>G c.193A>G (p.Lys65Glu) c.381A>G (n.381A>G) c.769A>G (p.Lys257Glu) c.1129A>G (p.Lys377Glu) c.1126A>G (p.Lys376Glu) c.394A>G (p.Lys132Glu)	dbSNP
7	g.151568808T>G	CA370071608	PRKAG2	c.415A>C (p.Lys139Gln) c.1138A>C (p.Lys380Gln) c.1141A>C (p.Lys381Gln) c.418A>C (p.Lys140Gln) c.201A>C c.766A>C (p.Lys256Gln) n.635A>C c.358A>C (p.Lys120Gln) n.1256A>C c.346+1363A>C (n.346+1363A>C) c.460A>C (n.460A>C) c.1009A>C (p.Lys337Gln) c.909A>C (n.909A>C) c.1006A>C (p.Lys336Gln) n.874A>C c.193A>C (p.Lys65Gln) c.381A>C (n.381A>C) c.769A>C (p.Lys257Gln) c.1129A>C (p.Lys377Gln) c.1126A>C (p.Lys376Gln) c.394A>C (p.Lys132Gln)
7	g.151568808T=	CA1752725653	PRKAG2	c.415A= (p.Lys139=) c.1138A= (p.Lys380=) c.1141A= (p.Lys381=) c.418A= (p.Lys140=) c.201A= c.766A= (p.Lys256=) n.635A= c.358A= (p.Lys120=) n.1256A= c.346+1363A= (n.346+1363A=) c.460A= (n.460A=) c.1009A= (p.Lys337=) c.909A= (n.909A=) c.1006A= (p.Lys336=) n.874A= c.193A= (p.Lys65=) c.381A= (n.381A=) c.769A= (p.Lys257=) c.1129A= (p.Lys377=) c.1126A= (p.Lys376=) c.394A= (p.Lys132=)
7	g.151568809A>C	CA370071609	PRKAG2	c.414T>G (p.Asn138Lys) c.1137T>G (p.Asn379Lys) c.1140T>G (p.Asn380Lys) c.417T>G (p.Asn139Lys) c.200T>G c.765T>G (p.Asn255Lys) n.634T>G c.357T>G (p.Asn119Lys) n.1255T>G c.346+1362T>G (n.346+1362T>G) c.459T>G (n.459T>G) c.1008T>G (p.Asn336Lys) c.908T>G (n.908T>G) c.1005T>G (p.Asn335Lys) n.873T>G c.192T>G (p.Asn64Lys) c.380T>G (n.380T>G) c.768T>G (p.Asn256Lys) c.1128T>G (p.Asn376Lys) c.1125T>G (p.Asn375Lys) c.393T>G (p.Asn131Lys)
7	g.151568809A>G	CA458669065	PRKAG2	c.414T>C (p.Asn138=) c.1137T>C (p.Asn379=) c.1140T>C (p.Asn380=) c.417T>C (p.Asn139=) c.200T>C c.765T>C (p.Asn255=) n.634T>C c.357T>C (p.Asn119=) n.1255T>C c.346+1362T>C (n.346+1362T>C) c.459T>C (n.459T>C) c.1008T>C (p.Asn336=) c.908T>C (n.908T>C) c.1005T>C (p.Asn335=) n.873T>C c.192T>C (p.Asn64=) c.380T>C (n.380T>C) c.768T>C (p.Asn256=) c.1128T>C (p.Asn376=) c.1125T>C (p.Asn375=) c.393T>C (p.Asn131=)
7	g.151568809A>T	CA370071610	PRKAG2	c.414T>A (p.Asn138Lys) c.1137T>A (p.Asn379Lys) c.1140T>A (p.Asn380Lys) c.417T>A (p.Asn139Lys) c.200T>A c.765T>A (p.Asn255Lys) n.634T>A c.357T>A (p.Asn119Lys) n.1255T>A c.346+1362T>A (n.346+1362T>A) c.459T>A (n.459T>A) c.1008T>A (p.Asn336Lys) c.908T>A (n.908T>A) c.1005T>A (p.Asn335Lys) n.873T>A c.192T>A (p.Asn64Lys) c.380T>A (n.380T>A) c.768T>A (p.Asn256Lys) c.1128T>A (p.Asn376Lys) c.1125T>A (p.Asn375Lys) c.393T>A (p.Asn131Lys)
7	g.151568810T>A	CA370071613	PRKAG2	c.413A>T (p.Asn138Ile) c.1136A>T (p.Asn379Ile) c.1139A>T (p.Asn380Ile) c.416A>T (p.Asn139Ile) c.199A>T c.764A>T (p.Asn255Ile) n.633A>T c.356A>T (p.Asn119Ile) n.1254A>T c.346+1361A>T (n.346+1361A>T) c.458A>T (n.458A>T) c.1007A>T (p.Asn336Ile) c.907A>T (n.907A>T) c.1004A>T (p.Asn335Ile) n.872A>T c.191A>T (p.Asn64Ile) c.379A>T (n.379A>T) c.767A>T (p.Asn256Ile) c.1127A>T (p.Asn376Ile) c.1124A>T (p.Asn375Ile) c.392A>T (p.Asn131Ile)
7	g.151568810T>C	CA370071611	PRKAG2	c.413A>G (p.Asn138Ser) c.1136A>G (p.Asn379Ser) c.1139A>G (p.Asn380Ser) c.416A>G (p.Asn139Ser) c.199A>G c.764A>G (p.Asn255Ser) n.633A>G c.356A>G (p.Asn119Ser) n.1254A>G c.346+1361A>G (n.346+1361A>G) c.458A>G (n.458A>G) c.1007A>G (p.Asn336Ser) c.907A>G (n.907A>G) c.1004A>G (p.Asn335Ser) n.872A>G c.191A>G (p.Asn64Ser) c.379A>G (n.379A>G) c.767A>G (p.Asn256Ser) c.1127A>G (p.Asn376Ser) c.1124A>G (p.Asn375Ser) c.392A>G (p.Asn131Ser)
7	g.151568810T>G	CA370071612	PRKAG2	c.413A>C (p.Asn138Thr) c.1136A>C (p.Asn379Thr) c.1139A>C (p.Asn380Thr) c.416A>C (p.Asn139Thr) c.199A>C c.764A>C (p.Asn255Thr) n.633A>C c.356A>C (p.Asn119Thr) n.1254A>C c.346+1361A>C (n.346+1361A>C) c.458A>C (n.458A>C) c.1007A>C (p.Asn336Thr) c.907A>C (n.907A>C) c.1004A>C (p.Asn335Thr) n.872A>C c.191A>C (p.Asn64Thr) c.379A>C (n.379A>C) c.767A>C (p.Asn256Thr) c.1127A>C (p.Asn376Thr) c.1124A>C (p.Asn375Thr) c.392A>C (p.Asn131Thr)
7	g.151568811T>A	CA370071614	PRKAG2	c.412A>T (p.Asn138Tyr) c.1135A>T (p.Asn379Tyr) c.1138A>T (p.Asn380Tyr) c.415A>T (p.Asn139Tyr) c.198A>T c.763A>T (p.Asn255Tyr) n.632A>T c.355A>T (p.Asn119Tyr) n.1253A>T c.346+1360A>T (n.346+1360A>T) c.457A>T (n.457A>T) c.1006A>T (p.Asn336Tyr) c.906A>T (n.906A>T) c.1003A>T (p.Asn335Tyr) n.871A>T c.190A>T (p.Asn64Tyr) c.378A>T (n.378A>T) c.766A>T (p.Asn256Tyr) c.1126A>T (p.Asn376Tyr) c.1123A>T (p.Asn375Tyr) c.391A>T (p.Asn131Tyr)
7	g.151568811T>C	CA370071615	PRKAG2	c.412A>G (p.Asn138Asp) c.1135A>G (p.Asn379Asp) c.1138A>G (p.Asn380Asp) c.415A>G (p.Asn139Asp) c.198A>G c.763A>G (p.Asn255Asp) n.632A>G c.355A>G (p.Asn119Asp) n.1253A>G c.346+1360A>G (n.346+1360A>G) c.457A>G (n.457A>G) c.1006A>G (p.Asn336Asp) c.906A>G (n.906A>G) c.1003A>G (p.Asn335Asp) n.871A>G c.190A>G (p.Asn64Asp) c.378A>G (n.378A>G) c.766A>G (p.Asn256Asp) c.1126A>G (p.Asn376Asp) c.1123A>G (p.Asn375Asp) c.391A>G (p.Asn131Asp)
7	g.151568811T>G	CA370071616	PRKAG2	c.412A>C (p.Asn138His) c.1135A>C (p.Asn379His) c.1138A>C (p.Asn380His) c.415A>C (p.Asn139His) c.198A>C c.763A>C (p.Asn255His) n.632A>C c.355A>C (p.Asn119His) n.1253A>C c.346+1360A>C (n.346+1360A>C) c.457A>C (n.457A>C) c.1006A>C (p.Asn336His) c.906A>C (n.906A>C) c.1003A>C (p.Asn335His) n.871A>C c.190A>C (p.Asn64His) c.378A>C (n.378A>C) c.766A>C (p.Asn256His) c.1126A>C (p.Asn376His) c.1123A>C (p.Asn375His) c.391A>C (p.Asn131His)
7	g.151568812T>A	CA370071617	PRKAG2	c.411A>T (p.Lys137Asn) c.1134A>T (p.Lys378Asn) c.1137A>T (p.Lys379Asn) c.414A>T (p.Lys138Asn) c.197A>T c.762A>T (p.Lys254Asn) n.631A>T c.354A>T (p.Lys118Asn) n.1252A>T c.346+1359A>T (n.346+1359A>T) c.456A>T (n.456A>T) c.1005A>T (p.Lys335Asn) c.905A>T (n.905A>T) c.1002A>T (p.Lys334Asn) n.870A>T c.189A>T (p.Lys63Asn) c.377A>T (n.377A>T) c.765A>T (p.Lys255Asn) c.1125A>T (p.Lys375Asn) c.1122A>T (p.Lys374Asn) c.390A>T (p.Lys130Asn)
7	g.151568812T>C	CA458669072	PRKAG2	c.411A>G (p.Lys137=) c.1134A>G (p.Lys378=) c.1137A>G (p.Lys379=) c.414A>G (p.Lys138=) c.197A>G c.762A>G (p.Lys254=) n.631A>G c.354A>G (p.Lys118=) n.1252A>G c.346+1359A>G (n.346+1359A>G) c.456A>G (n.456A>G) c.1005A>G (p.Lys335=) c.905A>G (n.905A>G) c.1002A>G (p.Lys334=) n.870A>G c.189A>G (p.Lys63=) c.377A>G (n.377A>G) c.765A>G (p.Lys255=) c.1125A>G (p.Lys375=) c.1122A>G (p.Lys374=) c.390A>G (p.Lys130=)
7	g.151568812T>G	CA370071618	PRKAG2	c.411A>C (p.Lys137Asn) c.1134A>C (p.Lys378Asn) c.1137A>C (p.Lys379Asn) c.414A>C (p.Lys138Asn) c.197A>C c.762A>C (p.Lys254Asn) n.631A>C c.354A>C (p.Lys118Asn) n.1252A>C c.346+1359A>C (n.346+1359A>C) c.456A>C (n.456A>C) c.1005A>C (p.Lys335Asn) c.905A>C (n.905A>C) c.1002A>C (p.Lys334Asn) n.870A>C c.189A>C (p.Lys63Asn) c.377A>C (n.377A>C) c.765A>C (p.Lys255Asn) c.1125A>C (p.Lys375Asn) c.1122A>C (p.Lys374Asn) c.390A>C (p.Lys130Asn)
7	g.151568813T>A	CA370071619	PRKAG2	c.410A>T (p.Lys137Ile) c.1133A>T (p.Lys378Ile) c.1136A>T (p.Lys379Ile) c.413A>T (p.Lys138Ile) c.196A>T c.761A>T (p.Lys254Ile) n.630A>T c.353A>T (p.Lys118Ile) n.1251A>T c.346+1358A>T (n.346+1358A>T) c.455A>T (n.455A>T) c.1004A>T (p.Lys335Ile) c.904A>T (n.904A>T) c.1001A>T (p.Lys334Ile) n.869A>T c.188A>T (p.Lys63Ile) c.376A>T (n.376A>T) c.764A>T (p.Lys255Ile) c.1124A>T (p.Lys375Ile) c.1121A>T (p.Lys374Ile) c.389A>T (p.Lys130Ile)
7	g.151568813T>C	CA370071620	PRKAG2	c.410A>G (p.Lys137Arg) c.1133A>G (p.Lys378Arg) c.1136A>G (p.Lys379Arg) c.413A>G (p.Lys138Arg) c.196A>G c.761A>G (p.Lys254Arg) n.630A>G c.353A>G (p.Lys118Arg) n.1251A>G c.346+1358A>G (n.346+1358A>G) c.455A>G (n.455A>G) c.1004A>G (p.Lys335Arg) c.904A>G (n.904A>G) c.1001A>G (p.Lys334Arg) n.869A>G c.188A>G (p.Lys63Arg) c.376A>G (n.376A>G) c.764A>G (p.Lys255Arg) c.1124A>G (p.Lys375Arg) c.1121A>G (p.Lys374Arg) c.389A>G (p.Lys130Arg)
7	g.151568813T>G	CA370071621	PRKAG2	c.410A>C (p.Lys137Thr) c.1133A>C (p.Lys378Thr) c.1136A>C (p.Lys379Thr) c.413A>C (p.Lys138Thr) c.196A>C c.761A>C (p.Lys254Thr) n.630A>C c.353A>C (p.Lys118Thr) n.1251A>C c.346+1358A>C (n.346+1358A>C) c.455A>C (n.455A>C) c.1004A>C (p.Lys335Thr) c.904A>C (n.904A>C) c.1001A>C (p.Lys334Thr) n.869A>C c.188A>C (p.Lys63Thr) c.376A>C (n.376A>C) c.764A>C (p.Lys255Thr) c.1124A>C (p.Lys375Thr) c.1121A>C (p.Lys374Thr) c.389A>C (p.Lys130Thr)	dbSNP gnomAD v3 gnomAD v4
7	g.151568813T=	CA1752725657	PRKAG2	c.410A= (p.Lys137=) c.1133A= (p.Lys378=) c.1136A= (p.Lys379=) c.413A= (p.Lys138=) c.196A= c.761A= (p.Lys254=) n.630A= c.353A= (p.Lys118=) n.1251A= c.346+1358A= (n.346+1358A=) c.455A= (n.455A=) c.1004A= (p.Lys335=) c.904A= (n.904A=) c.1001A= (p.Lys334=) n.869A= c.188A= (p.Lys63=) c.376A= (n.376A=) c.764A= (p.Lys255=) c.1124A= (p.Lys375=) c.1121A= (p.Lys374=) c.389A= (p.Lys130=)
7	g.151568814T>A	CA370071622	PRKAG2	c.409A>T (p.Lys137Ter) c.1132A>T (p.Lys378Ter) c.1135A>T (p.Lys379Ter) c.412A>T (p.Lys138Ter) c.195A>T c.760A>T (p.Lys254Ter) n.629A>T c.352A>T (p.Lys118Ter) n.1250A>T c.346+1357A>T (n.346+1357A>T) c.454A>T (n.454A>T) c.1003A>T (p.Lys335Ter) c.903A>T (n.903A>T) c.1000A>T (p.Lys334Ter) n.868A>T c.187A>T (p.Lys63Ter) c.375A>T (n.375A>T) c.763A>T (p.Lys255Ter) c.1123A>T (p.Lys375Ter) c.1120A>T (p.Lys374Ter) c.388A>T (p.Lys130Ter)
7	g.151568814T>C	CA370071623	PRKAG2	c.409A>G (p.Lys137Glu) c.1132A>G (p.Lys378Glu) c.1135A>G (p.Lys379Glu) c.412A>G (p.Lys138Glu) c.195A>G c.760A>G (p.Lys254Glu) n.629A>G c.352A>G (p.Lys118Glu) n.1250A>G c.346+1357A>G (n.346+1357A>G) c.454A>G (n.454A>G) c.1003A>G (p.Lys335Glu) c.903A>G (n.903A>G) c.1000A>G (p.Lys334Glu) n.868A>G c.187A>G (p.Lys63Glu) c.375A>G (n.375A>G) c.763A>G (p.Lys255Glu) c.1123A>G (p.Lys375Glu) c.1120A>G (p.Lys374Glu) c.388A>G (p.Lys130Glu)
7	g.151568814T>G	CA370071624	PRKAG2	c.409A>C (p.Lys137Gln) c.1132A>C (p.Lys378Gln) c.1135A>C (p.Lys379Gln) c.412A>C (p.Lys138Gln) c.195A>C c.760A>C (p.Lys254Gln) n.629A>C c.352A>C (p.Lys118Gln) n.1250A>C c.346+1357A>C (n.346+1357A>C) c.454A>C (n.454A>C) c.1003A>C (p.Lys335Gln) c.903A>C (n.903A>C) c.1000A>C (p.Lys334Gln) n.868A>C c.187A>C (p.Lys63Gln) c.375A>C (n.375A>C) c.763A>C (p.Lys255Gln) c.1123A>C (p.Lys375Gln) c.1120A>C (p.Lys374Gln) c.388A>C (p.Lys130Gln)
7	g.151568815G>A	CA458669073	PRKAG2	c.408C>T (p.Ile136=) c.1131C>T (p.Ile377=) c.1134C>T (p.Ile378=) c.411C>T (p.Ile137=) c.194C>T c.759C>T (p.Ile253=) n.628C>T c.351C>T (p.Ile117=) n.1249C>T c.346+1356C>T (n.346+1356C>T) c.453C>T (n.453C>T) c.1002C>T (p.Ile334=) c.902C>T (n.902C>T) c.999C>T (p.Ile333=) n.867C>T c.186C>T (p.Ile62=) c.374C>T (n.374C>T) c.762C>T (p.Ile254=) c.1122C>T (p.Ile374=) c.1119C>T (p.Ile373=) c.387C>T (p.Ile129=)
7	g.151568815G>C	CA370071625	PRKAG2	c.408C>G (p.Ile136Met) c.1131C>G (p.Ile377Met) c.1134C>G (p.Ile378Met) c.411C>G (p.Ile137Met) c.194C>G c.759C>G (p.Ile253Met) n.628C>G c.351C>G (p.Ile117Met) n.1249C>G c.346+1356C>G (n.346+1356C>G) c.453C>G (n.453C>G) c.1002C>G (p.Ile334Met) c.902C>G (n.902C>G) c.999C>G (p.Ile333Met) n.867C>G c.186C>G (p.Ile62Met) c.374C>G (n.374C>G) c.762C>G (p.Ile254Met) c.1122C>G (p.Ile374Met) c.1119C>G (p.Ile373Met) c.387C>G (p.Ile129Met)
7	g.151568815G>T	CA458669074	PRKAG2	c.408C>A (p.Ile136=) c.1131C>A (p.Ile377=) c.1134C>A (p.Ile378=) c.411C>A (p.Ile137=) c.194C>A c.759C>A (p.Ile253=) n.628C>A c.351C>A (p.Ile117=) n.1249C>A c.346+1356C>A (n.346+1356C>A) c.453C>A (n.453C>A) c.1002C>A (p.Ile334=) c.902C>A (n.902C>A) c.999C>A (p.Ile333=) n.867C>A c.186C>A (p.Ile62=) c.374C>A (n.374C>A) c.762C>A (p.Ile254=) c.1122C>A (p.Ile374=) c.1119C>A (p.Ile373=) c.387C>A (p.Ile129=)
7	g.151568816A>C	CA370071626	PRKAG2	c.407T>G (p.Ile136Ser) c.1130T>G (p.Ile377Ser) c.1133T>G (p.Ile378Ser) c.410T>G (p.Ile137Ser) c.193T>G c.758T>G (p.Ile253Ser) n.627T>G c.350T>G (p.Ile117Ser) n.1248T>G c.346+1355T>G (n.346+1355T>G) c.452T>G (n.452T>G) c.1001T>G (p.Ile334Ser) c.901T>G (n.901T>G) c.998T>G (p.Ile333Ser) n.866T>G c.185T>G (p.Ile62Ser) c.373T>G (n.373T>G) c.761T>G (p.Ile254Ser) c.1121T>G (p.Ile374Ser) c.1118T>G (p.Ile373Ser) c.386T>G (p.Ile129Ser)
7	g.151568816A>G	CA370071628	PRKAG2	c.407T>C (p.Ile136Thr) c.1130T>C (p.Ile377Thr) c.1133T>C (p.Ile378Thr) c.410T>C (p.Ile137Thr) c.193T>C c.758T>C (p.Ile253Thr) n.627T>C c.350T>C (p.Ile117Thr) n.1248T>C c.346+1355T>C (n.346+1355T>C) c.452T>C (n.452T>C) c.1001T>C (p.Ile334Thr) c.901T>C (n.901T>C) c.998T>C (p.Ile333Thr) n.866T>C c.185T>C (p.Ile62Thr) c.373T>C (n.373T>C) c.761T>C (p.Ile254Thr) c.1121T>C (p.Ile374Thr) c.1118T>C (p.Ile373Thr) c.386T>C (p.Ile129Thr)
7	g.151568816A>T	CA370071627	PRKAG2	c.407T>A (p.Ile136Asn) c.1130T>A (p.Ile377Asn) c.1133T>A (p.Ile378Asn) c.410T>A (p.Ile137Asn) c.193T>A c.758T>A (p.Ile253Asn) n.627T>A c.350T>A (p.Ile117Asn) n.1248T>A c.346+1355T>A (n.346+1355T>A) c.452T>A (n.452T>A) c.1001T>A (p.Ile334Asn) c.901T>A (n.901T>A) c.998T>A (p.Ile333Asn) n.866T>A c.185T>A (p.Ile62Asn) c.373T>A (n.373T>A) c.761T>A (p.Ile254Asn) c.1121T>A (p.Ile374Asn) c.1118T>A (p.Ile373Asn) c.386T>A (p.Ile129Asn)
7	g.151568817T>A	CA370071629	PRKAG2	c.406A>T (p.Ile136Phe) c.1129A>T (p.Ile377Phe) c.1132A>T (p.Ile378Phe) c.409A>T (p.Ile137Phe) c.192A>T c.757A>T (p.Ile253Phe) n.626A>T c.349A>T (p.Ile117Phe) n.1247A>T c.346+1354A>T (n.346+1354A>T) c.451A>T (n.451A>T) c.1000A>T (p.Ile334Phe) c.900A>T (n.900A>T) c.997A>T (p.Ile333Phe) n.865A>T c.184A>T (p.Ile62Phe) c.372A>T (n.372A>T) c.760A>T (p.Ile254Phe) c.1120A>T (p.Ile374Phe) c.1117A>T (p.Ile373Phe) c.385A>T (p.Ile129Phe)
7	g.151568817T>C	CA370071631	PRKAG2	c.406A>G (p.Ile136Val) c.1129A>G (p.Ile377Val) c.1132A>G (p.Ile378Val) c.409A>G (p.Ile137Val) c.192A>G c.757A>G (p.Ile253Val) n.626A>G c.349A>G (p.Ile117Val) n.1247A>G c.346+1354A>G (n.346+1354A>G) c.451A>G (n.451A>G) c.1000A>G (p.Ile334Val) c.900A>G (n.900A>G) c.997A>G (p.Ile333Val) n.865A>G c.184A>G (p.Ile62Val) c.372A>G (n.372A>G) c.760A>G (p.Ile254Val) c.1120A>G (p.Ile374Val) c.1117A>G (p.Ile373Val) c.385A>G (p.Ile129Val)
7	g.151568817T>G	CA370071630	PRKAG2	c.406A>C (p.Ile136Leu) c.1129A>C (p.Ile377Leu) c.1132A>C (p.Ile378Leu) c.409A>C (p.Ile137Leu) c.192A>C c.757A>C (p.Ile253Leu) n.626A>C c.349A>C (p.Ile117Leu) n.1247A>C c.346+1354A>C (n.346+1354A>C) c.451A>C (n.451A>C) c.1000A>C (p.Ile334Leu) c.900A>C (n.900A>C) c.997A>C (p.Ile333Leu) n.865A>C c.184A>C (p.Ile62Leu) c.372A>C (n.372A>C) c.760A>C (p.Ile254Leu) c.1120A>C (p.Ile374Leu) c.1117A>C (p.Ile373Leu) c.385A>C (p.Ile129Leu)
7	g.151568818C>A	CA370071632	PRKAG2	c.405G>T (p.Leu135Phe) c.1128G>T (p.Leu376Phe) c.1131G>T (p.Leu377Phe) c.408G>T (p.Leu136Phe) c.191G>T c.756G>T (p.Leu252Phe) n.625G>T c.348G>T (p.Leu116Phe) n.1246G>T c.346+1353G>T (n.346+1353G>T) c.450G>T (n.450G>T) c.999G>T (p.Leu333Phe) c.899G>T (n.899G>T) c.996G>T (p.Leu332Phe) n.864G>T c.183G>T (p.Leu61Phe) c.371G>T (n.371G>T) c.759G>T (p.Leu253Phe) c.1119G>T (p.Leu373Phe) c.1116G>T (p.Leu372Phe) c.384G>T (p.Leu128Phe)	gnomAD v4
7	g.151568818C>G	CA370071633	PRKAG2	c.405G>C (p.Leu135Phe) c.1128G>C (p.Leu376Phe) c.1131G>C (p.Leu377Phe) c.408G>C (p.Leu136Phe) c.191G>C c.756G>C (p.Leu252Phe) n.625G>C c.348G>C (p.Leu116Phe) n.1246G>C c.346+1353G>C (n.346+1353G>C) c.450G>C (n.450G>C) c.999G>C (p.Leu333Phe) c.899G>C (n.899G>C) c.996G>C (p.Leu332Phe) n.864G>C c.183G>C (p.Leu61Phe) c.371G>C (n.371G>C) c.759G>C (p.Leu253Phe) c.1119G>C (p.Leu373Phe) c.1116G>C (p.Leu372Phe) c.384G>C (p.Leu128Phe)
7	g.151568818C>T	CA458669075	PRKAG2	c.405G>A (p.Leu135=) c.1128G>A (p.Leu376=) c.1131G>A (p.Leu377=) c.408G>A (p.Leu136=) c.191G>A c.756G>A (p.Leu252=) n.625G>A c.348G>A (p.Leu116=) n.1246G>A c.346+1353G>A (n.346+1353G>A) c.450G>A (n.450G>A) c.999G>A (p.Leu333=) c.899G>A (n.899G>A) c.996G>A (p.Leu332=) n.864G>A c.183G>A (p.Leu61=) c.371G>A (n.371G>A) c.759G>A (p.Leu253=) c.1119G>A (p.Leu373=) c.1116G>A (p.Leu372=) c.384G>A (p.Leu128=)
7	g.151568819A>C	CA370071635	PRKAG2	c.404T>G (p.Leu135Trp) c.1127T>G (p.Leu376Trp) c.1130T>G (p.Leu377Trp) c.407T>G (p.Leu136Trp) c.190T>G c.755T>G (p.Leu252Trp) n.624T>G c.347T>G (p.Leu116Trp) n.1245T>G c.346+1352T>G (n.346+1352T>G) c.449T>G (n.449T>G) c.998T>G (p.Leu333Trp) c.898T>G (n.898T>G) c.995T>G (p.Leu332Trp) n.863T>G c.182T>G (p.Leu61Trp) c.370T>G (n.370T>G) c.758T>G (p.Leu253Trp) c.1118T>G (p.Leu373Trp) c.1115T>G (p.Leu372Trp) c.383T>G (p.Leu128Trp)
7	g.151568819A>G	CA370071636	PRKAG2	c.404T>C (p.Leu135Ser) c.1127T>C (p.Leu376Ser) c.1130T>C (p.Leu377Ser) c.407T>C (p.Leu136Ser) c.190T>C c.755T>C (p.Leu252Ser) n.624T>C c.347T>C (p.Leu116Ser) n.1245T>C c.346+1352T>C (n.346+1352T>C) c.449T>C (n.449T>C) c.998T>C (p.Leu333Ser) c.898T>C (n.898T>C) c.995T>C (p.Leu332Ser) n.863T>C c.182T>C (p.Leu61Ser) c.370T>C (n.370T>C) c.758T>C (p.Leu253Ser) c.1118T>C (p.Leu373Ser) c.1115T>C (p.Leu372Ser) c.383T>C (p.Leu128Ser)
7	g.151568819A>T	CA370071637	PRKAG2	c.404T>A (p.Leu135Ter) c.1127T>A (p.Leu376Ter) c.1130T>A (p.Leu377Ter) c.407T>A (p.Leu136Ter) c.190T>A c.755T>A (p.Leu252Ter) n.624T>A c.347T>A (p.Leu116Ter) n.1245T>A c.346+1352T>A (n.346+1352T>A) c.449T>A (n.449T>A) c.998T>A (p.Leu333Ter) c.898T>A (n.898T>A) c.995T>A (p.Leu332Ter) n.863T>A c.182T>A (p.Leu61Ter) c.370T>A (n.370T>A) c.758T>A (p.Leu253Ter) c.1118T>A (p.Leu373Ter) c.1115T>A (p.Leu372Ter) c.383T>A (p.Leu128Ter)
7	g.151568820A=	CA1752725665	PRKAG2	c.403T= (p.Leu135=) c.1126T= (p.Leu376=) c.1129T= (p.Leu377=) c.406T= (p.Leu136=) c.189T= c.754T= (p.Leu252=) n.623T= c.346T= (p.Leu116=) n.1244T= c.346+1351T= (n.346+1351T=) c.448T= (n.448T=) c.997T= (p.Leu333=) c.897T= (n.897T=) c.994T= (p.Leu332=) n.862T= c.181T= (p.Leu61=) c.369T= (n.369T=) c.757T= (p.Leu253=) c.1117T= (p.Leu373=) c.1114T= (p.Leu372=) c.382T= (p.Leu128=)
7	g.151568820A>C	CA370071638	PRKAG2	c.403T>G (p.Leu135Val) c.1126T>G (p.Leu376Val) c.1129T>G (p.Leu377Val) c.406T>G (p.Leu136Val) c.189T>G c.754T>G (p.Leu252Val) n.623T>G c.346T>G (p.Leu116Val) n.1244T>G c.346+1351T>G (n.346+1351T>G) c.448T>G (n.448T>G) c.997T>G (p.Leu333Val) c.897T>G (n.897T>G) c.994T>G (p.Leu332Val) n.862T>G c.181T>G (p.Leu61Val) c.369T>G (n.369T>G) c.757T>G (p.Leu253Val) c.1117T>G (p.Leu373Val) c.1114T>G (p.Leu372Val) c.382T>G (p.Leu128Val)	dbSNP
7	g.151568820A>G	CA16605283	PRKAG2	c.403T>C (p.Leu135=) c.1126T>C (p.Leu376=) c.1129T>C (p.Leu377=) c.406T>C (p.Leu136=) c.189T>C c.754T>C (p.Leu252=) n.623T>C c.346T>C (p.Leu116=) n.1244T>C c.346+1351T>C (n.346+1351T>C) c.448T>C (n.448T>C) c.997T>C (p.Leu333=) c.897T>C (n.897T>C) c.994T>C (p.Leu332=) n.862T>C c.181T>C (p.Leu61=) c.369T>C (n.369T>C) c.757T>C (p.Leu253=) c.1117T>C (p.Leu373=) c.1114T>C (p.Leu372=) c.382T>C (p.Leu128=)	ClinVar dbSNP
7	g.151568820A>T	CA370071639	PRKAG2	c.403T>A (p.Leu135Met) c.1126T>A (p.Leu376Met) c.1129T>A (p.Leu377Met) c.406T>A (p.Leu136Met) c.189T>A c.754T>A (p.Leu252Met) n.623T>A c.346T>A (p.Leu116Met) n.1244T>A c.346+1351T>A (n.346+1351T>A) c.448T>A (n.448T>A) c.997T>A (p.Leu333Met) c.897T>A (n.897T>A) c.994T>A (p.Leu332Met) n.862T>A c.181T>A (p.Leu61Met) c.369T>A (n.369T>A) c.757T>A (p.Leu253Met) c.1117T>A (p.Leu373Met) c.1114T>A (p.Leu372Met) c.382T>A (p.Leu128Met)
7	g.151568821G>A	CA458669080	PRKAG2	c.402C>T (p.Ser134=) c.1125C>T (p.Ser375=) c.1128C>T (p.Ser376=) c.405C>T (p.Ser135=) c.188C>T c.753C>T (p.Ser251=) n.622C>T c.345C>T (p.Ser115=) n.1243C>T c.346+1350C>T (n.346+1350C>T) c.447C>T (n.447C>T) c.996C>T (p.Ser332=) c.896C>T (n.896C>T) c.993C>T (p.Ser331=) n.861C>T c.180C>T (p.Ser60=) c.368C>T (n.368C>T) c.756C>T (p.Ser252=) c.1116C>T (p.Ser372=) c.1113C>T (p.Ser371=) c.381C>T (p.Ser127=)	ClinVar dbSNP
7	g.151568821G>C	CA458669081	PRKAG2	c.402C>G (p.Ser134=) c.1125C>G (p.Ser375=) c.1128C>G (p.Ser376=) c.405C>G (p.Ser135=) c.188C>G c.753C>G (p.Ser251=) n.622C>G c.345C>G (p.Ser115=) n.1243C>G c.346+1350C>G (n.346+1350C>G) c.447C>G (n.447C>G) c.996C>G (p.Ser332=) c.896C>G (n.896C>G) c.993C>G (p.Ser331=) n.861C>G c.180C>G (p.Ser60=) c.368C>G (n.368C>G) c.756C>G (p.Ser252=) c.1116C>G (p.Ser372=) c.1113C>G (p.Ser371=) c.381C>G (p.Ser127=)
7	g.151568821G=	CA1752725670	PRKAG2	c.402C= (p.Ser134=) c.1125C= (p.Ser375=) c.1128C= (p.Ser376=) c.405C= (p.Ser135=) c.188C= c.753C= (p.Ser251=) n.622C= c.345C= (p.Ser115=) n.1243C= c.346+1350C= (n.346+1350C=) c.447C= (n.447C=) c.996C= (p.Ser332=) c.896C= (n.896C=) c.993C= (p.Ser331=) n.861C= c.180C= (p.Ser60=) c.368C= (n.368C=) c.756C= (p.Ser252=) c.1116C= (p.Ser372=) c.1113C= (p.Ser371=) c.381C= (p.Ser127=)
7	g.151568821G>T	CA458669082	PRKAG2	c.402C>A (p.Ser134=) c.1125C>A (p.Ser375=) c.1128C>A (p.Ser376=) c.405C>A (p.Ser135=) c.188C>A c.753C>A (p.Ser251=) n.622C>A c.345C>A (p.Ser115=) n.1243C>A c.346+1350C>A (n.346+1350C>A) c.447C>A (n.447C>A) c.996C>A (p.Ser332=) c.896C>A (n.896C>A) c.993C>A (p.Ser331=) n.861C>A c.180C>A (p.Ser60=) c.368C>A (n.368C>A) c.756C>A (p.Ser252=) c.1116C>A (p.Ser372=) c.1113C>A (p.Ser371=) c.381C>A (p.Ser127=)
7	g.151568822G>A	CA370071640	PRKAG2	c.401C>T (p.Ser134Phe) c.1124C>T (p.Ser375Phe) c.1127C>T (p.Ser376Phe) c.404C>T (p.Ser135Phe) c.187C>T c.752C>T (p.Ser251Phe) n.621C>T c.344C>T (p.Ser115Phe) n.1242C>T c.346+1349C>T (n.346+1349C>T) c.446C>T (n.446C>T) c.995C>T (p.Ser332Phe) c.895C>T (n.895C>T) c.992C>T (p.Ser331Phe) n.860C>T c.179C>T (p.Ser60Phe) c.367C>T (n.367C>T) c.755C>T (p.Ser252Phe) c.1115C>T (p.Ser372Phe) c.1112C>T (p.Ser371Phe) c.380C>T (p.Ser127Phe)
7	g.151568822G>C	CA370071641	PRKAG2	c.401C>G (p.Ser134Cys) c.1124C>G (p.Ser375Cys) c.1127C>G (p.Ser376Cys) c.404C>G (p.Ser135Cys) c.187C>G c.752C>G (p.Ser251Cys) n.621C>G c.344C>G (p.Ser115Cys) n.1242C>G c.346+1349C>G (n.346+1349C>G) c.446C>G (n.446C>G) c.995C>G (p.Ser332Cys) c.895C>G (n.895C>G) c.992C>G (p.Ser331Cys) n.860C>G c.179C>G (p.Ser60Cys) c.367C>G (n.367C>G) c.755C>G (p.Ser252Cys) c.1115C>G (p.Ser372Cys) c.1112C>G (p.Ser371Cys) c.380C>G (p.Ser127Cys)
7	g.151568822G>T	CA370071642	PRKAG2	c.401C>A (p.Ser134Tyr) c.1124C>A (p.Ser375Tyr) c.1127C>A (p.Ser376Tyr) c.404C>A (p.Ser135Tyr) c.187C>A c.752C>A (p.Ser251Tyr) n.621C>A c.344C>A (p.Ser115Tyr) n.1242C>A c.346+1349C>A (n.346+1349C>A) c.446C>A (n.446C>A) c.995C>A (p.Ser332Tyr) c.895C>A (n.895C>A) c.992C>A (p.Ser331Tyr) n.860C>A c.179C>A (p.Ser60Tyr) c.367C>A (n.367C>A) c.755C>A (p.Ser252Tyr) c.1115C>A (p.Ser372Tyr) c.1112C>A (p.Ser371Tyr) c.380C>A (p.Ser127Tyr)
7	g.151568823A>C	CA370071643	PRKAG2	c.400T>G (p.Ser134Ala) c.1123T>G (p.Ser375Ala) c.1126T>G (p.Ser376Ala) c.403T>G (p.Ser135Ala) c.186T>G c.751T>G (p.Ser251Ala) n.620T>G c.343T>G (p.Ser115Ala) n.1241T>G c.346+1348T>G (n.346+1348T>G) c.445T>G (n.445T>G) c.994T>G (p.Ser332Ala) c.894T>G (n.894T>G) c.991T>G (p.Ser331Ala) n.859T>G c.178T>G (p.Ser60Ala) c.366T>G (n.366T>G) c.754T>G (p.Ser252Ala) c.1114T>G (p.Ser372Ala) c.1111T>G (p.Ser371Ala) c.379T>G (p.Ser127Ala)
7	g.151568823A>G	CA370071644	PRKAG2	c.400T>C (p.Ser134Pro) c.1123T>C (p.Ser375Pro) c.1126T>C (p.Ser376Pro) c.403T>C (p.Ser135Pro) c.186T>C c.751T>C (p.Ser251Pro) n.620T>C c.343T>C (p.Ser115Pro) n.1241T>C c.346+1348T>C (n.346+1348T>C) c.445T>C (n.445T>C) c.994T>C (p.Ser332Pro) c.894T>C (n.894T>C) c.991T>C (p.Ser331Pro) n.859T>C c.178T>C (p.Ser60Pro) c.366T>C (n.366T>C) c.754T>C (p.Ser252Pro) c.1114T>C (p.Ser372Pro) c.1111T>C (p.Ser371Pro) c.379T>C (p.Ser127Pro)
7	g.151568823A>T	CA370071645	PRKAG2	c.400T>A (p.Ser134Thr) c.1123T>A (p.Ser375Thr) c.1126T>A (p.Ser376Thr) c.403T>A (p.Ser135Thr) c.186T>A c.751T>A (p.Ser251Thr) n.620T>A c.343T>A (p.Ser115Thr) n.1241T>A c.346+1348T>A (n.346+1348T>A) c.445T>A (n.445T>A) c.994T>A (p.Ser332Thr) c.894T>A (n.894T>A) c.991T>A (p.Ser331Thr) n.859T>A c.178T>A (p.Ser60Thr) c.366T>A (n.366T>A) c.754T>A (p.Ser252Thr) c.1114T>A (p.Ser372Thr) c.1111T>A (p.Ser371Thr) c.379T>A (p.Ser127Thr)
7	g.151568824G>A	CA458669083	PRKAG2	c.399C>T (p.Tyr133=) c.1122C>T (p.Tyr374=) c.1125C>T (p.Tyr375=) c.402C>T (p.Tyr134=) c.185C>T c.750C>T (p.Tyr250=) n.619C>T c.342C>T (p.Tyr114=) n.1240C>T c.346+1347C>T (n.346+1347C>T) c.444C>T (n.444C>T) c.993C>T (p.Tyr331=) c.893C>T (n.893C>T) c.990C>T (p.Tyr330=) n.858C>T c.177C>T (p.Tyr59=) c.365C>T (n.365C>T) c.753C>T (p.Tyr251=) c.1113C>T (p.Tyr371=) c.1110C>T (p.Tyr370=) c.378C>T (p.Tyr126=)
7	g.151568824G>C	CA370071647	PRKAG2	c.399C>G (p.Tyr133Ter) c.1122C>G (p.Tyr374Ter) c.1125C>G (p.Tyr375Ter) c.402C>G (p.Tyr134Ter) c.185C>G c.750C>G (p.Tyr250Ter) n.619C>G c.342C>G (p.Tyr114Ter) n.1240C>G c.346+1347C>G (n.346+1347C>G) c.444C>G (n.444C>G) c.993C>G (p.Tyr331Ter) c.893C>G (n.893C>G) c.990C>G (p.Tyr330Ter) n.858C>G c.177C>G (p.Tyr59Ter) c.365C>G (n.365C>G) c.753C>G (p.Tyr251Ter) c.1113C>G (p.Tyr371Ter) c.1110C>G (p.Tyr370Ter) c.378C>G (p.Tyr126Ter)
7	g.151568824G>T	CA370071646	PRKAG2	c.399C>A (p.Tyr133Ter) c.1122C>A (p.Tyr374Ter) c.1125C>A (p.Tyr375Ter) c.402C>A (p.Tyr134Ter) c.185C>A c.750C>A (p.Tyr250Ter) n.619C>A c.342C>A (p.Tyr114Ter) n.1240C>A c.346+1347C>A (n.346+1347C>A) c.444C>A (n.444C>A) c.993C>A (p.Tyr331Ter) c.893C>A (n.893C>A) c.990C>A (p.Tyr330Ter) n.858C>A c.177C>A (p.Tyr59Ter) c.365C>A (n.365C>A) c.753C>A (p.Tyr251Ter) c.1113C>A (p.Tyr371Ter) c.1110C>A (p.Tyr370Ter) c.378C>A (p.Tyr126Ter)
7	g.151568825T>A	CA370071648	PRKAG2	c.398A>T (p.Tyr133Phe) c.1121A>T (p.Tyr374Phe) c.1124A>T (p.Tyr375Phe) c.401A>T (p.Tyr134Phe) c.184A>T c.749A>T (p.Tyr250Phe) n.618A>T c.341A>T (p.Tyr114Phe) n.1239A>T c.346+1346A>T (n.346+1346A>T) c.443A>T (n.443A>T) c.992A>T (p.Tyr331Phe) c.892A>T (n.892A>T) c.989A>T (p.Tyr330Phe) n.857A>T c.176A>T (p.Tyr59Phe) c.364A>T (n.364A>T) c.752A>T (p.Tyr251Phe) c.1112A>T (p.Tyr371Phe) c.1109A>T (p.Tyr370Phe) c.377A>T (p.Tyr126Phe)
7	g.151568825T>C	CA370071649	PRKAG2	c.398A>G (p.Tyr133Cys) c.1121A>G (p.Tyr374Cys) c.1124A>G (p.Tyr375Cys) c.401A>G (p.Tyr134Cys) c.184A>G c.749A>G (p.Tyr250Cys) n.618A>G c.341A>G (p.Tyr114Cys) n.1239A>G c.346+1346A>G (n.346+1346A>G) c.443A>G (n.443A>G) c.992A>G (p.Tyr331Cys) c.892A>G (n.892A>G) c.989A>G (p.Tyr330Cys) n.857A>G c.176A>G (p.Tyr59Cys) c.364A>G (n.364A>G) c.752A>G (p.Tyr251Cys) c.1112A>G (p.Tyr371Cys) c.1109A>G (p.Tyr370Cys) c.377A>G (p.Tyr126Cys)
7	g.151568825T>G	CA370071650	PRKAG2	c.398A>C (p.Tyr133Ser) c.1121A>C (p.Tyr374Ser) c.1124A>C (p.Tyr375Ser) c.401A>C (p.Tyr134Ser) c.184A>C c.749A>C (p.Tyr250Ser) n.618A>C c.341A>C (p.Tyr114Ser) n.1239A>C c.346+1346A>C (n.346+1346A>C) c.443A>C (n.443A>C) c.992A>C (p.Tyr331Ser) c.892A>C (n.892A>C) c.989A>C (p.Tyr330Ser) n.857A>C c.176A>C (p.Tyr59Ser) c.364A>C (n.364A>C) c.752A>C (p.Tyr251Ser) c.1112A>C (p.Tyr371Ser) c.1109A>C (p.Tyr370Ser) c.377A>C (p.Tyr126Ser)

Number of alleles fetched