Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.151568750G>ACA370071478PRKAG2c.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)
7g.151568750G>CCA370071479PRKAG2c.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)
7g.151568750G=CA1752725514PRKAG2c.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=)
7g.151568750G>TCA013659PRKAG2c.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
7g.151568751T>ACA370071480PRKAG2c.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)
7g.151568751T>CCA370071481PRKAG2c.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
7g.151568751T>GCA370071482PRKAG2c.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)
7g.151568751T=CA1752725529PRKAG2c.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=)
7g.151568751dupCA645547451PRKAG2c.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
7g.151568752A=CA1752725548PRKAG2c.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=)
7g.151568752A>CCA458668809PRKAG2c.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=)
7g.151568752A>GCA458668811PRKAG2c.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
7g.151568752A>TCA458668813PRKAG2c.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
7g.151568753A>CCA370071483PRKAG2c.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)
7g.151568753A>GCA370071485PRKAG2c.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)
7g.151568753A>TCA370071484PRKAG2c.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)
7g.151568754G>ACA370071486PRKAG2c.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
7g.151568754G>CCA370071487PRKAG2c.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)
7g.151568754G>TCA370071488PRKAG2c.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)
7g.151568755T>ACA458668825PRKAG2c.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=)
7g.151568755T>CCA370071489PRKAG2c.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)
7g.151568755T>GCA458668828PRKAG2c.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=)
7g.151568756A>CCA370071490PRKAG2c.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)
7g.151568756A>GCA370071492PRKAG2c.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)
7g.151568756A>TCA370071491PRKAG2c.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)
7g.151568757T>ACA370071493PRKAG2c.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)
7g.151568757T>CCA370071494PRKAG2c.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
7g.151568757T>GCA370071495PRKAG2c.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)
7g.151568758A=CA1752725553PRKAG2c.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=)
7g.151568758A>CCA370071496PRKAG2c.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)
7g.151568758A>GCA054327PRKAG2c.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
7g.151568758A>TCA370071497PRKAG2c.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)
7g.151568759T>ACA370071498PRKAG2c.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)
7g.151568759T>CCA370071499PRKAG2c.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)
7g.151568759T>GCA370071500PRKAG2c.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)
7g.151568760A>CCA370071501PRKAG2c.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)
7g.151568760A>GCA370071502PRKAG2c.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)
7g.151568760A>TCA370071503PRKAG2c.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)
7g.151568761A=CA1752725560PRKAG2c.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=)
7g.151568761A>CCA458668858PRKAG2c.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
7g.151568761A>GCA458668860PRKAG2c.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=)
7g.151568761A>TCA458668863PRKAG2c.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
7g.151568762A>CCA370071505PRKAG2c.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)
7g.151568762A>GCA370071506PRKAG2c.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)
7g.151568762A>TCA370071504PRKAG2c.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)
7g.151568763G>ACA370071508PRKAG2c.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)
7g.151568763G>CCA370071507PRKAG2c.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)
7g.151568763G>TCA370071509PRKAG2c.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)
7g.151568764T>ACA458668882PRKAG2c.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=)
7g.151568764T>CCA458668879PRKAG2c.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
7g.151568764T>GCA458668877PRKAG2c.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=)
7g.151568765G>ACA370071510PRKAG2c.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
7g.151568765G>CCA370071512PRKAG2c.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)
7g.151568765G=CA1752725565PRKAG2c.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=)
7g.151568765G>TCA370071511PRKAG2c.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)
7g.151568766C>ACA370071513PRKAG2c.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)
7g.151568766C=CA1752725568PRKAG2c.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=)
7g.151568766C>GCA169166209PRKAG2c.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
7g.151568766C>TCA370071514PRKAG2c.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)
7g.151568767A=CA1752725571PRKAG2c.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=)
7g.151568767A>CCA370071515PRKAG2c.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)
7g.151568767A>GCA458668898PRKAG2c.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
7g.151568767A>TCA370071516PRKAG2c.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)
7g.151568768T>ACA370071517PRKAG2c.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)
7g.151568768T>CCA370071518PRKAG2c.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)
7g.151568768T>GCA370071519PRKAG2c.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)
7g.151568769T>ACA370071520PRKAG2c.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)
7g.151568769T>CCA370071521PRKAG2c.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)
7g.151568769T>GCA370071522PRKAG2c.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)
7g.151568770C>ACA458668915PRKAG2c.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=)
7g.151568770C>GCA458668919PRKAG2c.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=)
7g.151568770C>TCA458668916PRKAG2c.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
7g.151568771C>ACA370071523PRKAG2c.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)
7g.151568771C>GCA370071524PRKAG2c.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)
7g.151568771C>TCA370071525PRKAG2c.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)
7g.151568772C>ACA370071528PRKAG2c.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)
7g.151568772C>GCA370071527PRKAG2c.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)
7g.151568772C>TCA370071526PRKAG2c.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)
7g.151568773A>CCA370071529PRKAG2c.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)
7g.151568773A>GCA458668934PRKAG2c.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=)
7g.151568773A>TCA370071530PRKAG2c.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)
7g.151568774C>ACA370071531PRKAG2c.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)
7g.151568774C>GCA370071532PRKAG2c.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)
7g.151568774C>TCA370071533PRKAG2c.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)
7g.151568775T>ACA370071534PRKAG2c.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)
7g.151568775T>CCA370071535PRKAG2c.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
7g.151568775T>GCA370071536PRKAG2c.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)
7g.151568776G>ACA458668951PRKAG2c.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
7g.151568776G>CCA370071537PRKAG2c.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)
7g.151568776G>TCA458668953PRKAG2c.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=)
7g.151568777A=CA1752725577PRKAG2c.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=)
7g.151568777A>CCA370071538PRKAG2c.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)
7g.151568777A>GCA370071539PRKAG2c.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
7g.151568777A>TCA370071540PRKAG2c.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)
7g.151568778T>ACA370071542PRKAG2c.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)
7g.151568778T>CCA169166211PRKAG2c.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
7g.151568778T>GCA370071541PRKAG2c.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)
7g.151568778T=CA1752725581PRKAG2c.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=)
7g.151568779A>CCA458668971PRKAG2c.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=)
7g.151568779A>GCA458668974PRKAG2c.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=)
7g.151568779A>TCA458668976PRKAG2c.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=)
7g.151568780G>ACA370071543PRKAG2c.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
7g.151568780G>CCA370071544PRKAG2c.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)
7g.151568780G>TCA370071545PRKAG2c.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)
7g.151568781G>ACA370071546PRKAG2c.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)
7g.151568781G>CCA370071547PRKAG2c.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)
7g.151568781G>TCA370071548PRKAG2c.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)
7g.151568782G>ACA458668990PRKAG2c.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
7g.151568782G>CCA370071549PRKAG2c.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)
7g.151568782G>TCA370071550PRKAG2c.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)
7g.151568783T>ACA370071551PRKAG2c.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)
7g.151568783T>CCA370071552PRKAG2c.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
7g.151568783T>GCA370071553PRKAG2c.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)
7g.151568784C>ACA370071554PRKAG2c.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)
7g.151568784C>GCA370071555PRKAG2c.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)
7g.151568784C>TCA370071556PRKAG2c.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)
7g.151568785A>CCA370071557PRKAG2c.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
7g.151568785A>GCA458669008PRKAG2c.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=)
7g.151568785A>TCA458669010PRKAG2c.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=)
7g.151568786A>CCA370071558PRKAG2c.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)
7g.151568786A>GCA370071559PRKAG2c.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)
7g.151568786A>TCA370071560PRKAG2c.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)
7g.151568787T>ACA370071561PRKAG2c.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
7g.151568787T>CCA370071562PRKAG2c.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
7g.151568787T>GCA370071563PRKAG2c.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)
7g.151568787T=CA1752725587PRKAG2c.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=)
7g.151568788A=CA1752725592PRKAG2c.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=)
7g.151568788A>CCA458669026PRKAG2c.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=)
7g.151568788A>GCA054318PRKAG2c.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
7g.151568788A>TCA458669030PRKAG2c.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=)
7g.151568789A>CCA370071564PRKAG2c.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)
7g.151568789A>GCA370071565PRKAG2c.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)
7g.151568789A>TCA370071566PRKAG2c.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)
7g.151568790C>ACA370071567PRKAG2c.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)
7g.151568790C=CA1752725599PRKAG2c.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=)
7g.151568790C>GCA370071568PRKAG2c.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)
7g.151568790C>TCA054308PRKAG2c.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
7g.151568791G>ACA054281PRKAG2c.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
7g.151568791G>CCA054273PRKAG2c.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
7g.151568791G=CA1752725608PRKAG2c.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=)
7g.151568791G>TCA458669042PRKAG2c.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=)
7g.151568792G>ACA370071569PRKAG2c.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
7g.151568792G>CCA370071571PRKAG2c.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)
7g.151568792G>TCA370071570PRKAG2c.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)
7g.151568793G>ACA370071572PRKAG2c.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)
7g.151568793G>CCA370071573PRKAG2c.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)
7g.151568793G>TCA370071574PRKAG2c.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)
7g.151568794C>ACA370071575PRKAG2c.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)
7g.151568794C>GCA370071576PRKAG2c.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)
7g.151568794C>TCA458669047PRKAG2c.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=)
7g.151568795A>CCA370071577PRKAG2c.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)
7g.151568795A>GCA370071578PRKAG2c.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)
7g.151568795A>TCA370071579PRKAG2c.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)
7g.151568796A>CCA370071580PRKAG2c.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)
7g.151568796A>GCA458669050PRKAG2c.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=)
7g.151568796A>TCA370071581PRKAG2c.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)
7g.151568797T>ACA013647PRKAG2c.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
7g.151568797T>CCA458669051PRKAG2c.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
7g.151568797T>GCA370071582PRKAG2c.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)
7g.151568797T=CA1752725614PRKAG2c.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=)
7g.151568798C>ACA370071584PRKAG2c.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)
7g.151568798C=CA1752725629PRKAG2c.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=)
7g.151568798C>GCA013633PRKAG2c.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
7g.151568798C>TCA370071583PRKAG2c.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)
7g.151568799T>ACA370071585PRKAG2c.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)
7g.151568799T>CCA370071586PRKAG2c.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)
7g.151568799T>GCA458669055PRKAG2c.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=)
7g.151568801_151568802delCA2685699983PRKAG2c.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
7g.151568800G>ACA458669056PRKAG2c.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=)
7g.151568800G>CCA370071587PRKAG2c.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)
7g.151568800G>TCA370071588PRKAG2c.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
7g.151568801T>ACA370071589PRKAG2c.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)
7g.151568801T>CCA013609PRKAG2c.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
7g.151568801T>GCA370071590PRKAG2c.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)
7g.151568801T=CA1752725638PRKAG2c.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=)
7g.151568802G>ACA370071591PRKAG2c.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)
7g.151568802G>CCA370071592PRKAG2c.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)
7g.151568802G>TCA370071593PRKAG2c.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)
7g.151568803G>ACA053787PRKAG2c.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
7g.151568803G>CCA370071594PRKAG2c.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)
7g.151568803G=CA1752725646PRKAG2c.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=)
7g.151568803G>TCA458669059PRKAG2c.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=)
7g.151568804A>CCA370071597PRKAG2c.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)
7g.151568804A>GCA370071596PRKAG2c.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)
7g.151568804A>TCA370071595PRKAG2c.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)
7g.151568805T>ACA370071598PRKAG2c.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)
7g.151568805T>CCA370071599PRKAG2c.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)
7g.151568805T>GCA370071600PRKAG2c.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)
7g.151568806T>ACA370071601PRKAG2c.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)
7g.151568806T>CCA458669063PRKAG2c.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=)
7g.151568806T>GCA370071602PRKAG2c.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)
7g.151568807T>ACA370071603PRKAG2c.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)
7g.151568807T>CCA370071604PRKAG2c.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)
7g.151568807T>GCA370071605PRKAG2c.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)
7g.151568808T>ACA370071606PRKAG2c.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)
7g.151568808T>CCA370071607PRKAG2c.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
7g.151568808T>GCA370071608PRKAG2c.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)
7g.151568808T=CA1752725653PRKAG2c.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=)
7g.151568809A>CCA370071609PRKAG2c.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)
7g.151568809A>GCA458669065PRKAG2c.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=)
7g.151568809A>TCA370071610PRKAG2c.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)
7g.151568810T>ACA370071613PRKAG2c.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)
7g.151568810T>CCA370071611PRKAG2c.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)
7g.151568810T>GCA370071612PRKAG2c.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)
7g.151568811T>ACA370071614PRKAG2c.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)
7g.151568811T>CCA370071615PRKAG2c.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)
7g.151568811T>GCA370071616PRKAG2c.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)
7g.151568812T>ACA370071617PRKAG2c.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)
7g.151568812T>CCA458669072PRKAG2c.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=)
7g.151568812T>GCA370071618PRKAG2c.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)
7g.151568813T>ACA370071619PRKAG2c.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)
7g.151568813T>CCA370071620PRKAG2c.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)
7g.151568813T>GCA370071621PRKAG2c.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
7g.151568813T=CA1752725657PRKAG2c.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=)
7g.151568814T>ACA370071622PRKAG2c.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)
7g.151568814T>CCA370071623PRKAG2c.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)
7g.151568814T>GCA370071624PRKAG2c.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)
7g.151568815G>ACA458669073PRKAG2c.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=)
7g.151568815G>CCA370071625PRKAG2c.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)
7g.151568815G>TCA458669074PRKAG2c.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=)
7g.151568816A>CCA370071626PRKAG2c.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)
7g.151568816A>GCA370071628PRKAG2c.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)
7g.151568816A>TCA370071627PRKAG2c.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)
7g.151568817T>ACA370071629PRKAG2c.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)
7g.151568817T>CCA370071631PRKAG2c.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)
7g.151568817T>GCA370071630PRKAG2c.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)
7g.151568818C>ACA370071632PRKAG2c.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
7g.151568818C>GCA370071633PRKAG2c.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)
7g.151568818C>TCA458669075PRKAG2c.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=)
7g.151568819A>CCA370071635PRKAG2c.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)
7g.151568819A>GCA370071636PRKAG2c.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)
7g.151568819A>TCA370071637PRKAG2c.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)
7g.151568820A=CA1752725665PRKAG2c.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=)
7g.151568820A>CCA370071638PRKAG2c.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
7g.151568820A>GCA16605283PRKAG2c.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
7g.151568820A>TCA370071639PRKAG2c.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)
7g.151568821G>ACA458669080PRKAG2c.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
7g.151568821G>CCA458669081PRKAG2c.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=)
7g.151568821G=CA1752725670PRKAG2c.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=)
7g.151568821G>TCA458669082PRKAG2c.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=)
7g.151568822G>ACA370071640PRKAG2c.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)
7g.151568822G>CCA370071641PRKAG2c.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)
7g.151568822G>TCA370071642PRKAG2c.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)
7g.151568823A>CCA370071643PRKAG2c.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)
7g.151568823A>GCA370071644PRKAG2c.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)
7g.151568823A>TCA370071645PRKAG2c.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)
7g.151568824G>ACA458669083PRKAG2c.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=)
7g.151568824G>CCA370071647PRKAG2c.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)
7g.151568824G>TCA370071646PRKAG2c.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)
7g.151568825T>ACA370071648PRKAG2c.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)
7g.151568825T>CCA370071649PRKAG2c.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)
7g.151568825T>GCA370071650PRKAG2c.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)
7g.151568826A>CCA370071651PRKAG2c.397T>G (p.Tyr133Asp)
c.1120T>G (p.Tyr374Asp)
c.1123T>G (p.Tyr375Asp)
c.400T>G (p.Tyr134Asp)
c.183T>G
c.748T>G (p.Tyr250Asp)
n.617T>G
c.340T>G (p.Tyr114Asp)
n.1238T>G
c.*346+1345T>G (n.*346+1345T>G)
c.*442T>G (n.*442T>G)
c.991T>G (p.Tyr331Asp)
c.891T>G (n.891T>G)
c.988T>G (p.Tyr330Asp)
n.856T>G
c.175T>G (p.Tyr59Asp)
c.*363T>G (n.*363T>G)
c.751T>G (p.Tyr251Asp)
c.1111T>G (p.Tyr371Asp)
c.1108T>G (p.Tyr370Asp)
c.376T>G (p.Tyr126Asp)
7g.151568826A>GCA370071652PRKAG2c.397T>C (p.Tyr133His)
c.1120T>C (p.Tyr374His)
c.1123T>C (p.Tyr375His)
c.400T>C (p.Tyr134His)
c.183T>C
c.748T>C (p.Tyr250His)
n.617T>C
c.340T>C (p.Tyr114His)
n.1238T>C
c.*346+1345T>C (n.*346+1345T>C)
c.*442T>C (n.*442T>C)
c.991T>C (p.Tyr331His)
c.891T>C (n.891T>C)
c.988T>C (p.Tyr330His)
n.856T>C
c.175T>C (p.Tyr59His)
c.*363T>C (n.*363T>C)
c.751T>C (p.Tyr251His)
c.1111T>C (p.Tyr371His)
c.1108T>C (p.Tyr370His)
c.376T>C (p.Tyr126His)
7g.151568826A>TCA370071653PRKAG2c.397T>A (p.Tyr133Asn)
c.1120T>A (p.Tyr374Asn)
c.1123T>A (p.Tyr375Asn)
c.400T>A (p.Tyr134Asn)
c.183T>A
c.748T>A (p.Tyr250Asn)
n.617T>A
c.340T>A (p.Tyr114Asn)
n.1238T>A
c.*346+1345T>A (n.*346+1345T>A)
c.*442T>A (n.*442T>A)
c.991T>A (p.Tyr331Asn)
c.891T>A (n.891T>A)
c.988T>A (p.Tyr330Asn)
n.856T>A
c.175T>A (p.Tyr59Asn)
c.*363T>A (n.*363T>A)
c.751T>A (p.Tyr251Asn)
c.1111T>A (p.Tyr371Asn)
c.1108T>A (p.Tyr370Asn)
c.376T>A (p.Tyr126Asn)
7g.151568827T>ACA458669088PRKAG2c.396A>T (p.Val132=)
c.1119A>T (p.Val373=)
c.1122A>T (p.Val374=)
c.399A>T (p.Val133=)
c.182A>T
c.747A>T (p.Val249=)
n.616A>T
c.339A>T (p.Val113=)
n.1237A>T
c.*346+1344A>T (n.*346+1344A>T)
c.*441A>T (n.*441A>T)
c.990A>T (p.Val330=)
c.890A>T (n.890A>T)
c.987A>T (p.Val329=)
n.855A>T
c.174A>T (p.Val58=)
c.*362A>T (n.*362A>T)
c.750A>T (p.Val250=)
c.1110A>T (p.Val370=)
c.1107A>T (p.Val369=)
c.375A>T (p.Val125=)
7g.151568827T>CCA458669090PRKAG2c.396A>G (p.Val132=)
c.1119A>G (p.Val373=)
c.1122A>G (p.Val374=)
c.399A>G (p.Val133=)
c.182A>G
c.747A>G (p.Val249=)
n.616A>G
c.339A>G (p.Val113=)
n.1237A>G
c.*346+1344A>G (n.*346+1344A>G)
c.*441A>G (n.*441A>G)
c.990A>G (p.Val330=)
c.890A>G (n.890A>G)
c.987A>G (p.Val329=)
n.855A>G
c.174A>G (p.Val58=)
c.*362A>G (n.*362A>G)
c.750A>G (p.Val250=)
c.1110A>G (p.Val370=)
c.1107A>G (p.Val369=)
c.375A>G (p.Val125=)
 COSMIC COSMIC
7g.151568827T>GCA458669089PRKAG2c.396A>C (p.Val132=)
c.1119A>C (p.Val373=)
c.1122A>C (p.Val374=)
c.399A>C (p.Val133=)
c.182A>C
c.747A>C (p.Val249=)
n.616A>C
c.339A>C (p.Val113=)
n.1237A>C
c.*346+1344A>C (n.*346+1344A>C)
c.*441A>C (n.*441A>C)
c.990A>C (p.Val330=)
c.890A>C (n.890A>C)
c.987A>C (p.Val329=)
n.855A>C
c.174A>C (p.Val58=)
c.*362A>C (n.*362A>C)
c.750A>C (p.Val250=)
c.1110A>C (p.Val370=)
c.1107A>C (p.Val369=)
c.375A>C (p.Val125=)
7g.151568828A>CCA370071654PRKAG2c.395T>G (p.Val132Gly)
c.1118T>G (p.Val373Gly)
c.1121T>G (p.Val374Gly)
c.398T>G (p.Val133Gly)
c.181T>G
c.746T>G (p.Val249Gly)
n.615T>G
c.338T>G (p.Val113Gly)
n.1236T>G
c.*346+1343T>G (n.*346+1343T>G)
c.*440T>G (n.*440T>G)
c.989T>G (p.Val330Gly)
c.889T>G (n.889T>G)
c.986T>G (p.Val329Gly)
n.854T>G
c.173T>G (p.Val58Gly)
c.*361T>G (n.*361T>G)
c.749T>G (p.Val250Gly)
c.1109T>G (p.Val370Gly)
c.1106T>G (p.Val369Gly)
c.374T>G (p.Val125Gly)
7g.151568828A>GCA370071655PRKAG2c.395T>C (p.Val132Ala)
c.1118T>C (p.Val373Ala)
c.1121T>C (p.Val374Ala)
c.398T>C (p.Val133Ala)
c.181T>C
c.746T>C (p.Val249Ala)
n.615T>C
c.338T>C (p.Val113Ala)
n.1236T>C
c.*346+1343T>C (n.*346+1343T>C)
c.*440T>C (n.*440T>C)
c.989T>C (p.Val330Ala)
c.889T>C (n.889T>C)
c.986T>C (p.Val329Ala)
n.854T>C
c.173T>C (p.Val58Ala)
c.*361T>C (n.*361T>C)
c.749T>C (p.Val250Ala)
c.1109T>C (p.Val370Ala)
c.1106T>C (p.Val369Ala)
c.374T>C (p.Val125Ala)
7g.151568828A>TCA370071656PRKAG2c.395T>A (p.Val132Glu)
c.1118T>A (p.Val373Glu)
c.1121T>A (p.Val374Glu)
c.398T>A (p.Val133Glu)
c.181T>A
c.746T>A (p.Val249Glu)
n.615T>A
c.338T>A (p.Val113Glu)
n.1236T>A
c.*346+1343T>A (n.*346+1343T>A)
c.*440T>A (n.*440T>A)
c.989T>A (p.Val330Glu)
c.889T>A (n.889T>A)
c.986T>A (p.Val329Glu)
n.854T>A
c.173T>A (p.Val58Glu)
c.*361T>A (n.*361T>A)
c.749T>A (p.Val250Glu)
c.1109T>A (p.Val370Glu)
c.1106T>A (p.Val369Glu)
c.374T>A (p.Val125Glu)
7g.151568829C>ACA370071657PRKAG2c.394G>T (p.Val132Leu)
c.1117G>T (p.Val373Leu)
c.1120G>T (p.Val374Leu)
c.397G>T (p.Val133Leu)
c.180G>T
c.745G>T (p.Val249Leu)
n.614G>T
c.337G>T (p.Val113Leu)
n.1235G>T
c.*346+1342G>T (n.*346+1342G>T)
c.*439G>T (n.*439G>T)
c.988G>T (p.Val330Leu)
c.888G>T (n.888G>T)
c.985G>T (p.Val329Leu)
n.853G>T
c.172G>T (p.Val58Leu)
c.*360G>T (n.*360G>T)
c.748G>T (p.Val250Leu)
c.1108G>T (p.Val370Leu)
c.1105G>T (p.Val369Leu)
c.373G>T (p.Val125Leu)
7g.151568829C=CA1752725681PRKAG2c.394G= (p.Val132=)
c.1117G= (p.Val373=)
c.1120G= (p.Val374=)
c.397G= (p.Val133=)
c.180G=
c.745G= (p.Val249=)
n.614G=
c.337G= (p.Val113=)
n.1235G=
c.*346+1342G= (n.*346+1342G=)
c.*439G= (n.*439G=)
c.988G= (p.Val330=)
c.888G= (n.888G=)
c.985G= (p.Val329=)
n.853G=
c.172G= (p.Val58=)
c.*360G= (n.*360G=)
c.748G= (p.Val250=)
c.1108G= (p.Val370=)
c.1105G= (p.Val369=)
c.373G= (p.Val125=)
7g.151568829C>GCA013591PRKAG2c.394G>C (p.Val132Leu)
c.1117G>C (p.Val373Leu)
c.1120G>C (p.Val374Leu)
c.397G>C (p.Val133Leu)
c.180G>C
c.745G>C (p.Val249Leu)
n.614G>C
c.337G>C (p.Val113Leu)
n.1235G>C
c.*346+1342G>C (n.*346+1342G>C)
c.*439G>C (n.*439G>C)
c.988G>C (p.Val330Leu)
c.888G>C (n.888G>C)
c.985G>C (p.Val329Leu)
n.853G>C
c.172G>C (p.Val58Leu)
c.*360G>C (n.*360G>C)
c.748G>C (p.Val250Leu)
c.1108G>C (p.Val370Leu)
c.1105G>C (p.Val369Leu)
c.373G>C (p.Val125Leu)
 ClinVar dbSNP gnomAD v4
7g.151568829C>TCA370071658PRKAG2c.394G>A (p.Val132Ile)
c.1117G>A (p.Val373Ile)
c.1120G>A (p.Val374Ile)
c.397G>A (p.Val133Ile)
c.180G>A
c.745G>A (p.Val249Ile)
n.614G>A
c.337G>A (p.Val113Ile)
n.1235G>A
c.*346+1342G>A (n.*346+1342G>A)
c.*439G>A (n.*439G>A)
c.988G>A (p.Val330Ile)
c.888G>A (n.888G>A)
c.985G>A (p.Val329Ile)
n.853G>A
c.172G>A (p.Val58Ile)
c.*360G>A (n.*360G>A)
c.748G>A (p.Val250Ile)
c.1108G>A (p.Val370Ile)
c.1105G>A (p.Val369Ile)
c.373G>A (p.Val125Ile)
 gnomAD v4
7g.151568830A>CCA458669092PRKAG2c.393T>G (p.Ala131=)
c.1116T>G (p.Ala372=)
c.1119T>G (p.Ala373=)
c.396T>G (p.Ala132=)
c.179T>G
c.744T>G (p.Ala248=)
n.613T>G
c.336T>G (p.Ala112=)
n.1234T>G
c.*346+1341T>G (n.*346+1341T>G)
c.*438T>G (n.*438T>G)
c.987T>G (p.Ala329=)
c.887T>G (n.887T>G)
c.984T>G (p.Ala328=)
n.852T>G
c.171T>G (p.Ala57=)
c.*359T>G (n.*359T>G)
c.747T>G (p.Ala249=)
c.1107T>G (p.Ala369=)
c.1104T>G (p.Ala368=)
c.372T>G (p.Ala124=)
7g.151568830A>GCA458669095PRKAG2c.393T>C (p.Ala131=)
c.1116T>C (p.Ala372=)
c.1119T>C (p.Ala373=)
c.396T>C (p.Ala132=)
c.179T>C
c.744T>C (p.Ala248=)
n.613T>C
c.336T>C (p.Ala112=)
n.1234T>C
c.*346+1341T>C (n.*346+1341T>C)
c.*438T>C (n.*438T>C)
c.987T>C (p.Ala329=)
c.887T>C (n.887T>C)
c.984T>C (p.Ala328=)
n.852T>C
c.171T>C (p.Ala57=)
c.*359T>C (n.*359T>C)
c.747T>C (p.Ala249=)
c.1107T>C (p.Ala369=)
c.1104T>C (p.Ala368=)
c.372T>C (p.Ala124=)
7g.151568830A>TCA458669097PRKAG2c.393T>A (p.Ala131=)
c.1116T>A (p.Ala372=)
c.1119T>A (p.Ala373=)
c.396T>A (p.Ala132=)
c.179T>A
c.744T>A (p.Ala248=)
n.613T>A
c.336T>A (p.Ala112=)
n.1234T>A
c.*346+1341T>A (n.*346+1341T>A)
c.*438T>A (n.*438T>A)
c.987T>A (p.Ala329=)
c.887T>A (n.887T>A)
c.984T>A (p.Ala328=)
n.852T>A
c.171T>A (p.Ala57=)
c.*359T>A (n.*359T>A)
c.747T>A (p.Ala249=)
c.1107T>A (p.Ala369=)
c.1104T>A (p.Ala368=)
c.372T>A (p.Ala124=)
7g.151568831G>ACA370071660PRKAG2c.392C>T (p.Ala131Val)
c.1115C>T (p.Ala372Val)
c.1118C>T (p.Ala373Val)
c.395C>T (p.Ala132Val)
c.178C>T
c.743C>T (p.Ala248Val)
n.612C>T
c.335C>T (p.Ala112Val)
n.1233C>T
c.*346+1340C>T (n.*346+1340C>T)
c.*437C>T (n.*437C>T)
c.986C>T (p.Ala329Val)
c.886C>T (n.886C>T)
c.983C>T (p.Ala328Val)
n.851C>T
c.170C>T (p.Ala57Val)
c.*358C>T (n.*358C>T)
c.746C>T (p.Ala249Val)
c.1106C>T (p.Ala369Val)
c.1103C>T (p.Ala368Val)
c.371C>T (p.Ala124Val)
7g.151568831G>CCA370071661PRKAG2c.392C>G (p.Ala131Gly)
c.1115C>G (p.Ala372Gly)
c.1118C>G (p.Ala373Gly)
c.395C>G (p.Ala132Gly)
c.178C>G
c.743C>G (p.Ala248Gly)
n.612C>G
c.335C>G (p.Ala112Gly)
n.1233C>G
c.*346+1340C>G (n.*346+1340C>G)
c.*437C>G (n.*437C>G)
c.986C>G (p.Ala329Gly)
c.886C>G (n.886C>G)
c.983C>G (p.Ala328Gly)
n.851C>G
c.170C>G (p.Ala57Gly)
c.*358C>G (n.*358C>G)
c.746C>G (p.Ala249Gly)
c.1106C>G (p.Ala369Gly)
c.1103C>G (p.Ala368Gly)
c.371C>G (p.Ala124Gly)
7g.151568831G>TCA370071659PRKAG2c.392C>A (p.Ala131Asp)
c.1115C>A (p.Ala372Asp)
c.1118C>A (p.Ala373Asp)
c.395C>A (p.Ala132Asp)
c.178C>A
c.743C>A (p.Ala248Asp)
n.612C>A
c.335C>A (p.Ala112Asp)
n.1233C>A
c.*346+1340C>A (n.*346+1340C>A)
c.*437C>A (n.*437C>A)
c.986C>A (p.Ala329Asp)
c.886C>A (n.886C>A)
c.983C>A (p.Ala328Asp)
n.851C>A
c.170C>A (p.Ala57Asp)
c.*358C>A (n.*358C>A)
c.746C>A (p.Ala249Asp)
c.1106C>A (p.Ala369Asp)
c.1103C>A (p.Ala368Asp)
c.371C>A (p.Ala124Asp)
7g.151568832C>ACA370071662PRKAG2c.391G>T (p.Ala131Ser)
c.1114G>T (p.Ala372Ser)
c.1117G>T (p.Ala373Ser)
c.394G>T (p.Ala132Ser)
c.177G>T
c.742G>T (p.Ala248Ser)
n.611G>T
c.334G>T (p.Ala112Ser)
n.1232G>T
c.*346+1339G>T (n.*346+1339G>T)
c.*436G>T (n.*436G>T)
c.985G>T (p.Ala329Ser)
c.885G>T (n.885G>T)
c.982G>T (p.Ala328Ser)
n.850G>T
c.169G>T (p.Ala57Ser)
c.*357G>T (n.*357G>T)
c.745G>T (p.Ala249Ser)
c.1105G>T (p.Ala369Ser)
c.1102G>T (p.Ala368Ser)
c.370G>T (p.Ala124Ser)
7g.151568832C>GCA370071663PRKAG2c.391G>C (p.Ala131Pro)
c.1114G>C (p.Ala372Pro)
c.1117G>C (p.Ala373Pro)
c.394G>C (p.Ala132Pro)
c.177G>C
c.742G>C (p.Ala248Pro)
n.611G>C
c.334G>C (p.Ala112Pro)
n.1232G>C
c.*346+1339G>C (n.*346+1339G>C)
c.*436G>C (n.*436G>C)
c.985G>C (p.Ala329Pro)
c.885G>C (n.885G>C)
c.982G>C (p.Ala328Pro)
n.850G>C
c.169G>C (p.Ala57Pro)
c.*357G>C (n.*357G>C)
c.745G>C (p.Ala249Pro)
c.1105G>C (p.Ala369Pro)
c.1102G>C (p.Ala368Pro)
c.370G>C (p.Ala124Pro)
7g.151568832C>TCA370071664PRKAG2c.391G>A (p.Ala131Thr)
c.1114G>A (p.Ala372Thr)
c.1117G>A (p.Ala373Thr)
c.394G>A (p.Ala132Thr)
c.177G>A
c.742G>A (p.Ala248Thr)
n.611G>A
c.334G>A (p.Ala112Thr)
n.1232G>A
c.*346+1339G>A (n.*346+1339G>A)
c.*436G>A (n.*436G>A)
c.985G>A (p.Ala329Thr)
c.885G>A (n.885G>A)
c.982G>A (p.Ala328Thr)
n.850G>A
c.169G>A (p.Ala57Thr)
c.*357G>A (n.*357G>A)
c.745G>A (p.Ala249Thr)
c.1105G>A (p.Ala369Thr)
c.1102G>A (p.Ala368Thr)
c.370G>A (p.Ala124Thr)
7g.151568833A=CA1752725691PRKAG2c.390T= (p.Asp130=)
c.1113T= (p.Asp371=)
c.1116T= (p.Asp372=)
c.393T= (p.Asp131=)
c.176T=
c.741T= (p.Asp247=)
n.610T=
c.333T= (p.Asp111=)
n.1231T=
c.*346+1338T= (n.*346+1338T=)
c.*435T= (n.*435T=)
c.984T= (p.Asp328=)
c.884T= (n.884T=)
c.981T= (p.Asp327=)
n.849T=
c.168T= (p.Asp56=)
c.*356T= (n.*356T=)
c.744T= (p.Asp248=)
c.1104T= (p.Asp368=)
c.1101T= (p.Asp367=)
c.369T= (p.Asp123=)
7g.151568833A>CCA370071665PRKAG2c.390T>G (p.Asp130Glu)
c.1113T>G (p.Asp371Glu)
c.1116T>G (p.Asp372Glu)
c.393T>G (p.Asp131Glu)
c.176T>G
c.741T>G (p.Asp247Glu)
n.610T>G
c.333T>G (p.Asp111Glu)
n.1231T>G
c.*346+1338T>G (n.*346+1338T>G)
c.*435T>G (n.*435T>G)
c.984T>G (p.Asp328Glu)
c.884T>G (n.884T>G)
c.981T>G (p.Asp327Glu)
n.849T>G
c.168T>G (p.Asp56Glu)
c.*356T>G (n.*356T>G)
c.744T>G (p.Asp248Glu)
c.1104T>G (p.Asp368Glu)
c.1101T>G (p.Asp367Glu)
c.369T>G (p.Asp123Glu)
7g.151568833A>GCA458669103PRKAG2c.390T>C (p.Asp130=)
c.1113T>C (p.Asp371=)
c.1116T>C (p.Asp372=)
c.393T>C (p.Asp131=)
c.176T>C
c.741T>C (p.Asp247=)
n.610T>C
c.333T>C (p.Asp111=)
n.1231T>C
c.*346+1338T>C (n.*346+1338T>C)
c.*435T>C (n.*435T>C)
c.984T>C (p.Asp328=)
c.884T>C (n.884T>C)
c.981T>C (p.Asp327=)
n.849T>C
c.168T>C (p.Asp56=)
c.*356T>C (n.*356T>C)
c.744T>C (p.Asp248=)
c.1104T>C (p.Asp368=)
c.1101T>C (p.Asp367=)
c.369T>C (p.Asp123=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151568833A>TCA370071666PRKAG2c.390T>A (p.Asp130Glu)
c.1113T>A (p.Asp371Glu)
c.1116T>A (p.Asp372Glu)
c.393T>A (p.Asp131Glu)
c.176T>A
c.741T>A (p.Asp247Glu)
n.610T>A
c.333T>A (p.Asp111Glu)
n.1231T>A
c.*346+1338T>A (n.*346+1338T>A)
c.*435T>A (n.*435T>A)
c.984T>A (p.Asp328Glu)
c.884T>A (n.884T>A)
c.981T>A (p.Asp327Glu)
n.849T>A
c.168T>A (p.Asp56Glu)
c.*356T>A (n.*356T>A)
c.744T>A (p.Asp248Glu)
c.1104T>A (p.Asp368Glu)
c.1101T>A (p.Asp367Glu)
c.369T>A (p.Asp123Glu)
7g.151568834T>ACA370071669PRKAG2c.389A>T (p.Asp130Val)
c.1112A>T (p.Asp371Val)
c.1115A>T (p.Asp372Val)
c.392A>T (p.Asp131Val)
c.175A>T
c.740A>T (p.Asp247Val)
n.609A>T
c.332A>T (p.Asp111Val)
n.1230A>T
c.*346+1337A>T (n.*346+1337A>T)
c.*434A>T (n.*434A>T)
c.983A>T (p.Asp328Val)
c.883A>T (n.883A>T)
c.980A>T (p.Asp327Val)
n.848A>T
c.167A>T (p.Asp56Val)
c.*355A>T (n.*355A>T)
c.743A>T (p.Asp248Val)
c.1103A>T (p.Asp368Val)
c.1100A>T (p.Asp367Val)
c.368A>T (p.Asp123Val)
 dbSNP gnomAD v2 gnomAD v4
7g.151568834T>CCA370071667PRKAG2c.389A>G (p.Asp130Gly)
c.1112A>G (p.Asp371Gly)
c.1115A>G (p.Asp372Gly)
c.392A>G (p.Asp131Gly)
c.175A>G
c.740A>G (p.Asp247Gly)
n.609A>G
c.332A>G (p.Asp111Gly)
n.1230A>G
c.*346+1337A>G (n.*346+1337A>G)
c.*434A>G (n.*434A>G)
c.983A>G (p.Asp328Gly)
c.883A>G (n.883A>G)
c.980A>G (p.Asp327Gly)
n.848A>G
c.167A>G (p.Asp56Gly)
c.*355A>G (n.*355A>G)
c.743A>G (p.Asp248Gly)
c.1103A>G (p.Asp368Gly)
c.1100A>G (p.Asp367Gly)
c.368A>G (p.Asp123Gly)
7g.151568834T>GCA370071668PRKAG2c.389A>C (p.Asp130Ala)
c.1112A>C (p.Asp371Ala)
c.1115A>C (p.Asp372Ala)
c.392A>C (p.Asp131Ala)
c.175A>C
c.740A>C (p.Asp247Ala)
n.609A>C
c.332A>C (p.Asp111Ala)
n.1230A>C
c.*346+1337A>C (n.*346+1337A>C)
c.*434A>C (n.*434A>C)
c.983A>C (p.Asp328Ala)
c.883A>C (n.883A>C)
c.980A>C (p.Asp327Ala)
n.848A>C
c.167A>C (p.Asp56Ala)
c.*355A>C (n.*355A>C)
c.743A>C (p.Asp248Ala)
c.1103A>C (p.Asp368Ala)
c.1100A>C (p.Asp367Ala)
c.368A>C (p.Asp123Ala)
7g.151568834T=CA1752725693PRKAG2c.389A= (p.Asp130=)
c.1112A= (p.Asp371=)
c.1115A= (p.Asp372=)
c.392A= (p.Asp131=)
c.175A=
c.740A= (p.Asp247=)
n.609A=
c.332A= (p.Asp111=)
n.1230A=
c.*346+1337A= (n.*346+1337A=)
c.*434A= (n.*434A=)
c.983A= (p.Asp328=)
c.883A= (n.883A=)
c.980A= (p.Asp327=)
n.848A=
c.167A= (p.Asp56=)
c.*355A= (n.*355A=)
c.743A= (p.Asp248=)
c.1103A= (p.Asp368=)
c.1100A= (p.Asp367=)
c.368A= (p.Asp123=)
7g.151568835C>ACA370071670PRKAG2c.388G>T (p.Asp130Tyr)
c.1111G>T (p.Asp371Tyr)
c.1114G>T (p.Asp372Tyr)
c.391G>T (p.Asp131Tyr)
c.174G>T
c.739G>T (p.Asp247Tyr)
n.608G>T
c.331G>T (p.Asp111Tyr)
n.1229G>T
c.*346+1336G>T (n.*346+1336G>T)
c.*433G>T (n.*433G>T)
c.982G>T (p.Asp328Tyr)
c.882G>T (n.882G>T)
c.979G>T (p.Asp327Tyr)
n.847G>T
c.166G>T (p.Asp56Tyr)
c.*354G>T (n.*354G>T)
c.742G>T (p.Asp248Tyr)
c.1102G>T (p.Asp368Tyr)
c.1099G>T (p.Asp367Tyr)
c.367G>T (p.Asp123Tyr)
 gnomAD v4
7g.151568835C=CA1752725697PRKAG2c.388G= (p.Asp130=)
c.1111G= (p.Asp371=)
c.1114G= (p.Asp372=)
c.391G= (p.Asp131=)
c.174G=
c.739G= (p.Asp247=)
n.608G=
c.331G= (p.Asp111=)
n.1229G=
c.*346+1336G= (n.*346+1336G=)
c.*433G= (n.*433G=)
c.982G= (p.Asp328=)
c.882G= (n.882G=)
c.979G= (p.Asp327=)
n.847G=
c.166G= (p.Asp56=)
c.*354G= (n.*354G=)
c.742G= (p.Asp248=)
c.1102G= (p.Asp368=)
c.1099G= (p.Asp367=)
c.367G= (p.Asp123=)
7g.151568835C>GCA053682PRKAG2c.388G>C (p.Asp130His)
c.1111G>C (p.Asp371His)
c.1114G>C (p.Asp372His)
c.391G>C (p.Asp131His)
c.174G>C
c.739G>C (p.Asp247His)
n.608G>C
c.331G>C (p.Asp111His)
n.1229G>C
c.*346+1336G>C (n.*346+1336G>C)
c.*433G>C (n.*433G>C)
c.982G>C (p.Asp328His)
c.882G>C (n.882G>C)
c.979G>C (p.Asp327His)
n.847G>C
c.166G>C (p.Asp56His)
c.*354G>C (n.*354G>C)
c.742G>C (p.Asp248His)
c.1102G>C (p.Asp368His)
c.1099G>C (p.Asp367His)
c.367G>C (p.Asp123His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.151568835C>TCA169166228PRKAG2c.388G>A (p.Asp130Asn)
c.1111G>A (p.Asp371Asn)
c.1114G>A (p.Asp372Asn)
c.391G>A (p.Asp131Asn)
c.174G>A
c.739G>A (p.Asp247Asn)
n.608G>A
c.331G>A (p.Asp111Asn)
n.1229G>A
c.*346+1336G>A (n.*346+1336G>A)
c.*433G>A (n.*433G>A)
c.982G>A (p.Asp328Asn)
c.882G>A (n.882G>A)
c.979G>A (p.Asp327Asn)
n.847G>A
c.166G>A (p.Asp56Asn)
c.*354G>A (n.*354G>A)
c.742G>A (p.Asp248Asn)
c.1102G>A (p.Asp368Asn)
c.1099G>A (p.Asp367Asn)
c.367G>A (p.Asp123Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151568836G>ACA458669104PRKAG2c.387C>T (p.Phe129=)
c.1110C>T (p.Phe370=)
c.1113C>T (p.Phe371=)
c.390C>T (p.Phe130=)
c.173C>T
c.738C>T (p.Phe246=)
n.607C>T
c.330C>T (p.Phe110=)
n.1228C>T
c.*346+1335C>T (n.*346+1335C>T)
c.*432C>T (n.*432C>T)
c.981C>T (p.Phe327=)
c.881C>T (n.881C>T)
c.978C>T (p.Phe326=)
n.846C>T
c.165C>T (p.Phe55=)
c.*353C>T (n.*353C>T)
c.741C>T (p.Phe247=)
c.1101C>T (p.Phe367=)
c.1098C>T (p.Phe366=)
c.366C>T (p.Phe122=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
7g.151568836G>CCA370071671PRKAG2c.387C>G (p.Phe129Leu)
c.1110C>G (p.Phe370Leu)
c.1113C>G (p.Phe371Leu)
c.390C>G (p.Phe130Leu)
c.173C>G
c.738C>G (p.Phe246Leu)
n.607C>G
c.330C>G (p.Phe110Leu)
n.1228C>G
c.*346+1335C>G (n.*346+1335C>G)
c.*432C>G (n.*432C>G)
c.981C>G (p.Phe327Leu)
c.881C>G (n.881C>G)
c.978C>G (p.Phe326Leu)
n.846C>G
c.165C>G (p.Phe55Leu)
c.*353C>G (n.*353C>G)
c.741C>G (p.Phe247Leu)
c.1101C>G (p.Phe367Leu)
c.1098C>G (p.Phe366Leu)
c.366C>G (p.Phe122Leu)
7g.151568836G=CA1752725705PRKAG2c.387C= (p.Phe129=)
c.1110C= (p.Phe370=)
c.1113C= (p.Phe371=)
c.390C= (p.Phe130=)
c.173C=
c.738C= (p.Phe246=)
n.607C=
c.330C= (p.Phe110=)
n.1228C=
c.*346+1335C= (n.*346+1335C=)
c.*432C= (n.*432C=)
c.981C= (p.Phe327=)
c.881C= (n.881C=)
c.978C= (p.Phe326=)
n.846C=
c.165C= (p.Phe55=)
c.*353C= (n.*353C=)
c.741C= (p.Phe247=)
c.1101C= (p.Phe367=)
c.1098C= (p.Phe366=)
c.366C= (p.Phe122=)
7g.151568836G>TCA370071672PRKAG2c.387C>A (p.Phe129Leu)
c.1110C>A (p.Phe370Leu)
c.1113C>A (p.Phe371Leu)
c.390C>A (p.Phe130Leu)
c.173C>A
c.738C>A (p.Phe246Leu)
n.607C>A
c.330C>A (p.Phe110Leu)
n.1228C>A
c.*346+1335C>A (n.*346+1335C>A)
c.*432C>A (n.*432C>A)
c.981C>A (p.Phe327Leu)
c.881C>A (n.881C>A)
c.978C>A (p.Phe326Leu)
n.846C>A
c.165C>A (p.Phe55Leu)
c.*353C>A (n.*353C>A)
c.741C>A (p.Phe247Leu)
c.1101C>A (p.Phe367Leu)
c.1098C>A (p.Phe366Leu)
c.366C>A (p.Phe122Leu)
7g.151568837A=CA1752725711PRKAG2c.386T= (p.Phe129=)
c.1109T= (p.Phe370=)
c.1112T= (p.Phe371=)
c.389T= (p.Phe130=)
c.172T=
c.737T= (p.Phe246=)
n.606T=
c.329T= (p.Phe110=)
n.1227T=
c.*346+1334T= (n.*346+1334T=)
c.*431T= (n.*431T=)
c.980T= (p.Phe327=)
c.880T= (n.880T=)
c.977T= (p.Phe326=)
n.845T=
c.164T= (p.Phe55=)
c.*352T= (n.*352T=)
c.740T= (p.Phe247=)
c.1100T= (p.Phe367=)
c.1097T= (p.Phe366=)
c.365T= (p.Phe122=)
7g.151568837A>CCA370071673PRKAG2c.386T>G (p.Phe129Cys)
c.1109T>G (p.Phe370Cys)
c.1112T>G (p.Phe371Cys)
c.389T>G (p.Phe130Cys)
c.172T>G
c.737T>G (p.Phe246Cys)
n.606T>G
c.329T>G (p.Phe110Cys)
n.1227T>G
c.*346+1334T>G (n.*346+1334T>G)
c.*431T>G (n.*431T>G)
c.980T>G (p.Phe327Cys)
c.880T>G (n.880T>G)
c.977T>G (p.Phe326Cys)
n.845T>G
c.164T>G (p.Phe55Cys)
c.*352T>G (n.*352T>G)
c.740T>G (p.Phe247Cys)
c.1100T>G (p.Phe367Cys)
c.1097T>G (p.Phe366Cys)
c.365T>G (p.Phe122Cys)
7g.151568837A>GCA370071674PRKAG2c.386T>C (p.Phe129Ser)
c.1109T>C (p.Phe370Ser)
c.1112T>C (p.Phe371Ser)
c.389T>C (p.Phe130Ser)
c.172T>C
c.737T>C (p.Phe246Ser)
n.606T>C
c.329T>C (p.Phe110Ser)
n.1227T>C
c.*346+1334T>C (n.*346+1334T>C)
c.*431T>C (n.*431T>C)
c.980T>C (p.Phe327Ser)
c.880T>C (n.880T>C)
c.977T>C (p.Phe326Ser)
n.845T>C
c.164T>C (p.Phe55Ser)
c.*352T>C (n.*352T>C)
c.740T>C (p.Phe247Ser)
c.1100T>C (p.Phe367Ser)
c.1097T>C (p.Phe366Ser)
c.365T>C (p.Phe122Ser)
7g.151568837A>TCA053674PRKAG2c.386T>A (p.Phe129Tyr)
c.1109T>A (p.Phe370Tyr)
c.1112T>A (p.Phe371Tyr)
c.389T>A (p.Phe130Tyr)
c.172T>A
c.737T>A (p.Phe246Tyr)
n.606T>A
c.329T>A (p.Phe110Tyr)
n.1227T>A
c.*346+1334T>A (n.*346+1334T>A)
c.*431T>A (n.*431T>A)
c.980T>A (p.Phe327Tyr)
c.880T>A (n.880T>A)
c.977T>A (p.Phe326Tyr)
n.845T>A
c.164T>A (p.Phe55Tyr)
c.*352T>A (n.*352T>A)
c.740T>A (p.Phe247Tyr)
c.1100T>A (p.Phe367Tyr)
c.1097T>A (p.Phe366Tyr)
c.365T>A (p.Phe122Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151568838A>CCA370071675PRKAG2c.385T>G (p.Phe129Val)
c.1108T>G (p.Phe370Val)
c.1111T>G (p.Phe371Val)
c.388T>G (p.Phe130Val)
c.171T>G
c.736T>G (p.Phe246Val)
n.605T>G
c.328T>G (p.Phe110Val)
n.1226T>G
c.*346+1333T>G (n.*346+1333T>G)
c.*430T>G (n.*430T>G)
c.979T>G (p.Phe327Val)
c.879T>G (n.879T>G)
c.976T>G (p.Phe326Val)
n.844T>G
c.163T>G (p.Phe55Val)
c.*351T>G (n.*351T>G)
c.739T>G (p.Phe247Val)
c.1099T>G (p.Phe367Val)
c.1096T>G (p.Phe366Val)
c.364T>G (p.Phe122Val)
7g.151568838A>GCA370071676PRKAG2c.385T>C (p.Phe129Leu)
c.1108T>C (p.Phe370Leu)
c.1111T>C (p.Phe371Leu)
c.388T>C (p.Phe130Leu)
c.171T>C
c.736T>C (p.Phe246Leu)
n.605T>C
c.328T>C (p.Phe110Leu)
n.1226T>C
c.*346+1333T>C (n.*346+1333T>C)
c.*430T>C (n.*430T>C)
c.979T>C (p.Phe327Leu)
c.879T>C (n.879T>C)
c.976T>C (p.Phe326Leu)
n.844T>C
c.163T>C (p.Phe55Leu)
c.*351T>C (n.*351T>C)
c.739T>C (p.Phe247Leu)
c.1099T>C (p.Phe367Leu)
c.1096T>C (p.Phe366Leu)
c.364T>C (p.Phe122Leu)
7g.151568838A>TCA370071677PRKAG2c.385T>A (p.Phe129Ile)
c.1108T>A (p.Phe370Ile)
c.1111T>A (p.Phe371Ile)
c.388T>A (p.Phe130Ile)
c.171T>A
c.736T>A (p.Phe246Ile)
n.605T>A
c.328T>A (p.Phe110Ile)
n.1226T>A
c.*346+1333T>A (n.*346+1333T>A)
c.*430T>A (n.*430T>A)
c.979T>A (p.Phe327Ile)
c.879T>A (n.879T>A)
c.976T>A (p.Phe326Ile)
n.844T>A
c.163T>A (p.Phe55Ile)
c.*351T>A (n.*351T>A)
c.739T>A (p.Phe247Ile)
c.1099T>A (p.Phe367Ile)
c.1096T>A (p.Phe366Ile)
c.364T>A (p.Phe122Ile)
7g.151568839G>ACA458669108PRKAG2c.384C>T (p.Leu128=)
c.1107C>T (p.Leu369=)
c.1110C>T (p.Leu370=)
c.387C>T (p.Leu129=)
c.170C>T
c.735C>T (p.Leu245=)
n.604C>T
c.327C>T (p.Leu109=)
n.1225C>T
c.*346+1332C>T (n.*346+1332C>T)
c.*429C>T (n.*429C>T)
c.978C>T (p.Leu326=)
c.878C>T (n.878C>T)
c.975C>T (p.Leu325=)
n.843C>T
c.162C>T (p.Leu54=)
c.*350C>T (n.*350C>T)
c.738C>T (p.Leu246=)
c.1098C>T (p.Leu366=)
c.1095C>T (p.Leu365=)
c.363C>T (p.Leu121=)
7g.151568839G>CCA458669109PRKAG2c.384C>G (p.Leu128=)
c.1107C>G (p.Leu369=)
c.1110C>G (p.Leu370=)
c.387C>G (p.Leu129=)
c.170C>G
c.735C>G (p.Leu245=)
n.604C>G
c.327C>G (p.Leu109=)
n.1225C>G
c.*346+1332C>G (n.*346+1332C>G)
c.*429C>G (n.*429C>G)
c.978C>G (p.Leu326=)
c.878C>G (n.878C>G)
c.975C>G (p.Leu325=)
n.843C>G
c.162C>G (p.Leu54=)
c.*350C>G (n.*350C>G)
c.738C>G (p.Leu246=)
c.1098C>G (p.Leu366=)
c.1095C>G (p.Leu365=)
c.363C>G (p.Leu121=)
7g.151568839G>TCA458669110PRKAG2c.384C>A (p.Leu128=)
c.1107C>A (p.Leu369=)
c.1110C>A (p.Leu370=)
c.387C>A (p.Leu129=)
c.170C>A
c.735C>A (p.Leu245=)
n.604C>A
c.327C>A (p.Leu109=)
n.1225C>A
c.*346+1332C>A (n.*346+1332C>A)
c.*429C>A (n.*429C>A)
c.978C>A (p.Leu326=)
c.878C>A (n.878C>A)
c.975C>A (p.Leu325=)
n.843C>A
c.162C>A (p.Leu54=)
c.*350C>A (n.*350C>A)
c.738C>A (p.Leu246=)
c.1098C>A (p.Leu366=)
c.1095C>A (p.Leu365=)
c.363C>A (p.Leu121=)
7g.151568840A>CCA370071678PRKAG2c.383T>G (p.Leu128Arg)
c.1106T>G (p.Leu369Arg)
c.1109T>G (p.Leu370Arg)
c.386T>G (p.Leu129Arg)
c.169T>G
c.734T>G (p.Leu245Arg)
n.603T>G
c.326T>G (p.Leu109Arg)
n.1224T>G
c.*346+1331T>G (n.*346+1331T>G)
c.*428T>G (n.*428T>G)
c.977T>G (p.Leu326Arg)
c.877T>G (n.877T>G)
c.974T>G (p.Leu325Arg)
n.842T>G
c.161T>G (p.Leu54Arg)
c.*349T>G (n.*349T>G)
c.737T>G (p.Leu246Arg)
c.1097T>G (p.Leu366Arg)
c.1094T>G (p.Leu365Arg)
c.362T>G (p.Leu121Arg)
7g.151568840A>GCA370071679PRKAG2c.383T>C (p.Leu128Pro)
c.1106T>C (p.Leu369Pro)
c.1109T>C (p.Leu370Pro)
c.386T>C (p.Leu129Pro)
c.169T>C
c.734T>C (p.Leu245Pro)
n.603T>C
c.326T>C (p.Leu109Pro)
n.1224T>C
c.*346+1331T>C (n.*346+1331T>C)
c.*428T>C (n.*428T>C)
c.977T>C (p.Leu326Pro)
c.877T>C (n.877T>C)
c.974T>C (p.Leu325Pro)
n.842T>C
c.161T>C (p.Leu54Pro)
c.*349T>C (n.*349T>C)
c.737T>C (p.Leu246Pro)
c.1097T>C (p.Leu366Pro)
c.1094T>C (p.Leu365Pro)
c.362T>C (p.Leu121Pro)
7g.151568840A>TCA370071680PRKAG2c.383T>A (p.Leu128His)
c.1106T>A (p.Leu369His)
c.1109T>A (p.Leu370His)
c.386T>A (p.Leu129His)
c.169T>A
c.734T>A (p.Leu245His)
n.603T>A
c.326T>A (p.Leu109His)
n.1224T>A
c.*346+1331T>A (n.*346+1331T>A)
c.*428T>A (n.*428T>A)
c.977T>A (p.Leu326His)
c.877T>A (n.877T>A)
c.974T>A (p.Leu325His)
n.842T>A
c.161T>A (p.Leu54His)
c.*349T>A (n.*349T>A)
c.737T>A (p.Leu246His)
c.1097T>A (p.Leu366His)
c.1094T>A (p.Leu365His)
c.362T>A (p.Leu121His)
7g.151568841G>ACA370071681PRKAG2c.382C>T (p.Leu128Phe)
c.1105C>T (p.Leu369Phe)
c.1108C>T (p.Leu370Phe)
c.385C>T (p.Leu129Phe)
c.168C>T
c.733C>T (p.Leu245Phe)
n.602C>T
c.325C>T (p.Leu109Phe)
n.1223C>T
c.*346+1330C>T (n.*346+1330C>T)
c.*427C>T (n.*427C>T)
c.976C>T (p.Leu326Phe)
c.876C>T (n.876C>T)
c.973C>T (p.Leu325Phe)
n.841C>T
c.160C>T (p.Leu54Phe)
c.*348C>T (n.*348C>T)
c.736C>T (p.Leu246Phe)
c.1096C>T (p.Leu366Phe)
c.1093C>T (p.Leu365Phe)
c.361C>T (p.Leu121Phe)
 ClinVar
7g.151568841G>CCA370071682PRKAG2c.382C>G (p.Leu128Val)
c.1105C>G (p.Leu369Val)
c.1108C>G (p.Leu370Val)
c.385C>G (p.Leu129Val)
c.168C>G
c.733C>G (p.Leu245Val)
n.602C>G
c.325C>G (p.Leu109Val)
n.1223C>G
c.*346+1330C>G (n.*346+1330C>G)
c.*427C>G (n.*427C>G)
c.976C>G (p.Leu326Val)
c.876C>G (n.876C>G)
c.973C>G (p.Leu325Val)
n.841C>G
c.160C>G (p.Leu54Val)
c.*348C>G (n.*348C>G)
c.736C>G (p.Leu246Val)
c.1096C>G (p.Leu366Val)
c.1093C>G (p.Leu365Val)
c.361C>G (p.Leu121Val)
7g.151568841G>TCA370071683PRKAG2c.382C>A (p.Leu128Ile)
c.1105C>A (p.Leu369Ile)
c.1108C>A (p.Leu370Ile)
c.385C>A (p.Leu129Ile)
c.168C>A
c.733C>A (p.Leu245Ile)
n.602C>A
c.325C>A (p.Leu109Ile)
n.1223C>A
c.*346+1330C>A (n.*346+1330C>A)
c.*427C>A (n.*427C>A)
c.976C>A (p.Leu326Ile)
c.876C>A (n.876C>A)
c.973C>A (p.Leu325Ile)
n.841C>A
c.160C>A (p.Leu54Ile)
c.*348C>A (n.*348C>A)
c.736C>A (p.Leu246Ile)
c.1096C>A (p.Leu366Ile)
c.1093C>A (p.Leu365Ile)
c.361C>A (p.Leu121Ile)
7g.151568842G>ACA458669114PRKAG2c.381C>T (p.Ser127=)
c.1104C>T (p.Ser368=)
c.1107C>T (p.Ser369=)
c.384C>T (p.Ser128=)
c.167C>T
c.732C>T (p.Ser244=)
n.601C>T
c.324C>T (p.Ser108=)
n.1222C>T
c.*346+1329C>T (n.*346+1329C>T)
c.*426C>T (n.*426C>T)
c.975C>T (p.Ser325=)
c.875C>T (n.875C>T)
c.972C>T (p.Ser324=)
n.840C>T
c.159C>T (p.Ser53=)
c.*347C>T (n.*347C>T)
c.735C>T (p.Ser245=)
c.1095C>T (p.Ser365=)
c.1092C>T (p.Ser364=)
c.360C>T (p.Ser120=)
7g.151568842G>CCA370071684PRKAG2c.381C>G (p.Ser127Arg)
c.1104C>G (p.Ser368Arg)
c.1107C>G (p.Ser369Arg)
c.384C>G (p.Ser128Arg)
c.167C>G
c.732C>G (p.Ser244Arg)
n.601C>G
c.324C>G (p.Ser108Arg)
n.1222C>G
c.*346+1329C>G (n.*346+1329C>G)
c.*426C>G (n.*426C>G)
c.975C>G (p.Ser325Arg)
c.875C>G (n.875C>G)
c.972C>G (p.Ser324Arg)
n.840C>G
c.159C>G (p.Ser53Arg)
c.*347C>G (n.*347C>G)
c.735C>G (p.Ser245Arg)
c.1095C>G (p.Ser365Arg)
c.1092C>G (p.Ser364Arg)
c.360C>G (p.Ser120Arg)
7g.151568842G>TCA370071685PRKAG2c.381C>A (p.Ser127Arg)
c.1104C>A (p.Ser368Arg)
c.1107C>A (p.Ser369Arg)
c.384C>A (p.Ser128Arg)
c.167C>A
c.732C>A (p.Ser244Arg)
n.601C>A
c.324C>A (p.Ser108Arg)
n.1222C>A
c.*346+1329C>A (n.*346+1329C>A)
c.*426C>A (n.*426C>A)
c.975C>A (p.Ser325Arg)
c.875C>A (n.875C>A)
c.972C>A (p.Ser324Arg)
n.840C>A
c.159C>A (p.Ser53Arg)
c.*347C>A (n.*347C>A)
c.735C>A (p.Ser245Arg)
c.1095C>A (p.Ser365Arg)
c.1092C>A (p.Ser364Arg)
c.360C>A (p.Ser120Arg)
7g.151568843C>ACA370071688PRKAG2c.381-1G>T (n.381-1G>T)
c.1104-1G>T (n.1104-1G>T)
c.1107-1G>T (n.1107-1G>T)
c.384-1G>T (n.384-1G>T)
c.167-1G>T
c.732-1G>T (n.732-1G>T)
n.601-1G>T
c.324-1G>T (n.324-1G>T)
n.1222-1G>T
c.*346+1328G>T (n.*346+1328G>T)
c.*426-1G>T (n.*426-1G>T)
c.975-1G>T (n.975-1G>T)
c.875-1G>T (n.875-1G>T)
c.972-1G>T (n.972-1G>T)
n.840-1G>T
c.159-1G>T (n.159-1G>T)
c.*347-1G>T (n.*347-1G>T)
c.735-1G>T (n.735-1G>T)
c.1095-1G>T (n.1095-1G>T)
c.1092-1G>T (n.1092-1G>T)
c.360-1G>T (n.360-1G>T)
7g.151568843C>GCA370071687PRKAG2c.381-1G>C (n.381-1G>C)
c.1104-1G>C (n.1104-1G>C)
c.1107-1G>C (n.1107-1G>C)
c.384-1G>C (n.384-1G>C)
c.167-1G>C
c.732-1G>C (n.732-1G>C)
n.601-1G>C
c.324-1G>C (n.324-1G>C)
n.1222-1G>C
c.*346+1328G>C (n.*346+1328G>C)
c.*426-1G>C (n.*426-1G>C)
c.975-1G>C (n.975-1G>C)
c.875-1G>C (n.875-1G>C)
c.972-1G>C (n.972-1G>C)
n.840-1G>C
c.159-1G>C (n.159-1G>C)
c.*347-1G>C (n.*347-1G>C)
c.735-1G>C (n.735-1G>C)
c.1095-1G>C (n.1095-1G>C)
c.1092-1G>C (n.1092-1G>C)
c.360-1G>C (n.360-1G>C)
7g.151568843C>TCA370071686PRKAG2c.381-1G>A (n.381-1G>A)
c.1104-1G>A (n.1104-1G>A)
c.1107-1G>A (n.1107-1G>A)
c.384-1G>A (n.384-1G>A)
c.167-1G>A
c.732-1G>A (n.732-1G>A)
n.601-1G>A
c.324-1G>A (n.324-1G>A)
n.1222-1G>A
c.*346+1328G>A (n.*346+1328G>A)
c.*426-1G>A (n.*426-1G>A)
c.975-1G>A (n.975-1G>A)
c.875-1G>A (n.875-1G>A)
c.972-1G>A (n.972-1G>A)
n.840-1G>A
c.159-1G>A (n.159-1G>A)
c.*347-1G>A (n.*347-1G>A)
c.735-1G>A (n.735-1G>A)
c.1095-1G>A (n.1095-1G>A)
c.1092-1G>A (n.1092-1G>A)
c.360-1G>A (n.360-1G>A)
7g.151568844T>ACA370071689PRKAG2c.381-2A>T (n.381-2A>T)
c.1104-2A>T (n.1104-2A>T)
c.1107-2A>T (n.1107-2A>T)
c.384-2A>T (n.384-2A>T)
c.167-2A>T
c.732-2A>T (n.732-2A>T)
n.601-2A>T
c.324-2A>T (n.324-2A>T)
n.1222-2A>T
c.*346+1327A>T (n.*346+1327A>T)
c.*426-2A>T (n.*426-2A>T)
c.975-2A>T (n.975-2A>T)
c.875-2A>T (n.875-2A>T)
c.972-2A>T (n.972-2A>T)
n.840-2A>T
c.159-2A>T (n.159-2A>T)
c.*347-2A>T (n.*347-2A>T)
c.735-2A>T (n.735-2A>T)
c.1095-2A>T (n.1095-2A>T)
c.1092-2A>T (n.1092-2A>T)
c.360-2A>T (n.360-2A>T)
7g.151568844T>CCA370071691PRKAG2c.381-2A>G (n.381-2A>G)
c.1104-2A>G (n.1104-2A>G)
c.1107-2A>G (n.1107-2A>G)
c.384-2A>G (n.384-2A>G)
c.167-2A>G
c.732-2A>G (n.732-2A>G)
n.601-2A>G
c.324-2A>G (n.324-2A>G)
n.1222-2A>G
c.*346+1327A>G (n.*346+1327A>G)
c.*426-2A>G (n.*426-2A>G)
c.975-2A>G (n.975-2A>G)
c.875-2A>G (n.875-2A>G)
c.972-2A>G (n.972-2A>G)
n.840-2A>G
c.159-2A>G (n.159-2A>G)
c.*347-2A>G (n.*347-2A>G)
c.735-2A>G (n.735-2A>G)
c.1095-2A>G (n.1095-2A>G)
c.1092-2A>G (n.1092-2A>G)
c.360-2A>G (n.360-2A>G)
7g.151568844T>GCA370071690PRKAG2c.381-2A>C (n.381-2A>C)
c.1104-2A>C (n.1104-2A>C)
c.1107-2A>C (n.1107-2A>C)
c.384-2A>C (n.384-2A>C)
c.167-2A>C
c.732-2A>C (n.732-2A>C)
n.601-2A>C
c.324-2A>C (n.324-2A>C)
n.1222-2A>C
c.*346+1327A>C (n.*346+1327A>C)
c.*426-2A>C (n.*426-2A>C)
c.975-2A>C (n.975-2A>C)
c.875-2A>C (n.875-2A>C)
c.972-2A>C (n.972-2A>C)
n.840-2A>C
c.159-2A>C (n.159-2A>C)
c.*347-2A>C (n.*347-2A>C)
c.735-2A>C (n.735-2A>C)
c.1095-2A>C (n.1095-2A>C)
c.1092-2A>C (n.1092-2A>C)
c.360-2A>C (n.360-2A>C)
7g.151568845G>ACA2499218820PRKAG2c.381-3C>T (n.381-3C>T)
c.1104-3C>T (n.1104-3C>T)
c.1107-3C>T (n.1107-3C>T)
c.384-3C>T (n.384-3C>T)
c.167-3C>T
c.732-3C>T (n.732-3C>T)
n.601-3C>T
c.324-3C>T (n.324-3C>T)
n.1222-3C>T
c.*346+1326C>T (n.*346+1326C>T)
c.*426-3C>T (n.*426-3C>T)
c.975-3C>T (n.975-3C>T)
c.875-3C>T (n.875-3C>T)
c.972-3C>T (n.972-3C>T)
n.840-3C>T
c.159-3C>T (n.159-3C>T)
c.*347-3C>T (n.*347-3C>T)
c.735-3C>T (n.735-3C>T)
c.1095-3C>T (n.1095-3C>T)
c.1092-3C>T (n.1092-3C>T)
c.360-3C>T (n.360-3C>T)
 ClinVar dbSNP gnomAD v4
7g.151568846T>ACA2534247629PRKAG2c.381-4A>T (n.381-4A>T)
c.1104-4A>T (n.1104-4A>T)
c.1107-4A>T (n.1107-4A>T)
c.384-4A>T (n.384-4A>T)
c.167-4A>T
c.732-4A>T (n.732-4A>T)
n.601-4A>T
c.324-4A>T (n.324-4A>T)
n.1222-4A>T
c.*346+1325A>T (n.*346+1325A>T)
c.*426-4A>T (n.*426-4A>T)
c.975-4A>T (n.975-4A>T)
c.875-4A>T (n.875-4A>T)
c.972-4A>T (n.972-4A>T)
n.840-4A>T
c.159-4A>T (n.159-4A>T)
c.*347-4A>T (n.*347-4A>T)
c.735-4A>T (n.735-4A>T)
c.1095-4A>T (n.1095-4A>T)
c.1092-4A>T (n.1092-4A>T)
c.360-4A>T (n.360-4A>T)
 ClinVar
7g.151568846T>GCA169166232PRKAG2c.381-4A>C (n.381-4A>C)
c.1104-4A>C (n.1104-4A>C)
c.1107-4A>C (n.1107-4A>C)
c.384-4A>C (n.384-4A>C)
c.167-4A>C
c.732-4A>C (n.732-4A>C)
n.601-4A>C
c.324-4A>C (n.324-4A>C)
n.1222-4A>C
c.*346+1325A>C (n.*346+1325A>C)
c.*426-4A>C (n.*426-4A>C)
c.975-4A>C (n.975-4A>C)
c.875-4A>C (n.875-4A>C)
c.972-4A>C (n.972-4A>C)
n.840-4A>C
c.159-4A>C (n.159-4A>C)
c.*347-4A>C (n.*347-4A>C)
c.735-4A>C (n.735-4A>C)
c.1095-4A>C (n.1095-4A>C)
c.1092-4A>C (n.1092-4A>C)
c.360-4A>C (n.360-4A>C)
 dbSNP
7g.151568846T=CA1752725714PRKAG2c.381-4A= (n.381-4A=)
c.1104-4A= (n.1104-4A=)
c.1107-4A= (n.1107-4A=)
c.384-4A= (n.384-4A=)
c.167-4A=
c.732-4A= (n.732-4A=)
n.601-4A=
c.324-4A= (n.324-4A=)
n.1222-4A=
c.*346+1325A= (n.*346+1325A=)
c.*426-4A= (n.*426-4A=)
c.975-4A= (n.975-4A=)
c.875-4A= (n.875-4A=)
c.972-4A= (n.972-4A=)
n.840-4A=
c.159-4A= (n.159-4A=)
c.*347-4A= (n.*347-4A=)
c.735-4A= (n.735-4A=)
c.1095-4A= (n.1095-4A=)
c.1092-4A= (n.1092-4A=)
c.360-4A= (n.360-4A=)
7g.151568847G>ACA2685699996PRKAG2c.381-5C>T (n.381-5C>T)
c.1104-5C>T (n.1104-5C>T)
c.1107-5C>T (n.1107-5C>T)
c.384-5C>T (n.384-5C>T)
c.167-5C>T
c.732-5C>T (n.732-5C>T)
n.601-5C>T
c.324-5C>T (n.324-5C>T)
n.1222-5C>T
c.*346+1324C>T (n.*346+1324C>T)
c.*426-5C>T (n.*426-5C>T)
c.975-5C>T (n.975-5C>T)
c.875-5C>T (n.875-5C>T)
c.972-5C>T (n.972-5C>T)
n.840-5C>T
c.159-5C>T (n.159-5C>T)
c.*347-5C>T (n.*347-5C>T)
c.735-5C>T (n.735-5C>T)
c.1095-5C>T (n.1095-5C>T)
c.1092-5C>T (n.1092-5C>T)
c.360-5C>T (n.360-5C>T)
 gnomAD v4
7g.151568849dupCA2825001561PRKAG2c.381-5dup (n.381-5dup)
c.1104-5dup (n.1104-5dup)
c.1107-5dup (n.1107-5dup)
c.384-5dup (n.384-5dup)
c.167-5dup
c.732-5dup (n.732-5dup)
n.601-5dup
c.324-5dup (n.324-5dup)
n.1222-5dup
c.*346+1324dup (n.*346+1324dup)
c.*426-5dup (n.*426-5dup)
c.975-5dup (n.975-5dup)
c.875-5dup (n.875-5dup)
c.972-5dup (n.972-5dup)
n.840-5dup
c.159-5dup (n.159-5dup)
c.*347-5dup (n.*347-5dup)
c.735-5dup (n.735-5dup)
c.1095-5dup (n.1095-5dup)
c.1092-5dup (n.1092-5dup)
c.360-5dup (n.360-5dup)
 ClinVar
7g.151568848G>ACA1108745173PRKAG2c.381-6C>T (n.381-6C>T)
c.1104-6C>T (n.1104-6C>T)
c.1107-6C>T (n.1107-6C>T)
c.384-6C>T (n.384-6C>T)
c.167-6C>T
c.732-6C>T (n.732-6C>T)
n.601-6C>T
c.324-6C>T (n.324-6C>T)
n.1222-6C>T
c.*346+1323C>T (n.*346+1323C>T)
c.*426-6C>T (n.*426-6C>T)
c.975-6C>T (n.975-6C>T)
c.875-6C>T (n.875-6C>T)
c.972-6C>T (n.972-6C>T)
n.840-6C>T
c.159-6C>T (n.159-6C>T)
c.*347-6C>T (n.*347-6C>T)
c.735-6C>T (n.735-6C>T)
c.1095-6C>T (n.1095-6C>T)
c.1092-6C>T (n.1092-6C>T)
c.360-6C>T (n.360-6C>T)
 dbSNP gnomAD v3 gnomAD v4
7g.151568848G=CA1752725717PRKAG2c.381-6C= (n.381-6C=)
c.1104-6C= (n.1104-6C=)
c.1107-6C= (n.1107-6C=)
c.384-6C= (n.384-6C=)
c.167-6C=
c.732-6C= (n.732-6C=)
n.601-6C=
c.324-6C= (n.324-6C=)
n.1222-6C=
c.*346+1323C= (n.*346+1323C=)
c.*426-6C= (n.*426-6C=)
c.975-6C= (n.975-6C=)
c.875-6C= (n.875-6C=)
c.972-6C= (n.972-6C=)
n.840-6C=
c.159-6C= (n.159-6C=)
c.*347-6C= (n.*347-6C=)
c.735-6C= (n.735-6C=)
c.1095-6C= (n.1095-6C=)
c.1092-6C= (n.1092-6C=)
c.360-6C= (n.360-6C=)
7g.151568849G>ACA053655PRKAG2c.381-7C>T (n.381-7C>T)
c.1104-7C>T (n.1104-7C>T)
c.1107-7C>T (n.1107-7C>T)
c.384-7C>T (n.384-7C>T)
c.167-7C>T
c.732-7C>T (n.732-7C>T)
n.601-7C>T
c.324-7C>T (n.324-7C>T)
n.1222-7C>T
c.*346+1322C>T (n.*346+1322C>T)
c.*426-7C>T (n.*426-7C>T)
c.975-7C>T (n.975-7C>T)
c.875-7C>T (n.875-7C>T)
c.972-7C>T (n.972-7C>T)
n.840-7C>T
c.159-7C>T (n.159-7C>T)
c.*347-7C>T (n.*347-7C>T)
c.735-7C>T (n.735-7C>T)
c.1095-7C>T (n.1095-7C>T)
c.1092-7C>T (n.1092-7C>T)
c.360-7C>T (n.360-7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151568849G=CA1752725722PRKAG2c.381-7C= (n.381-7C=)
c.1104-7C= (n.1104-7C=)
c.1107-7C= (n.1107-7C=)
c.384-7C= (n.384-7C=)
c.167-7C=
c.732-7C= (n.732-7C=)
n.601-7C=
c.324-7C= (n.324-7C=)
n.1222-7C=
c.*346+1322C= (n.*346+1322C=)
c.*426-7C= (n.*426-7C=)
c.975-7C= (n.975-7C=)
c.875-7C= (n.875-7C=)
c.972-7C= (n.972-7C=)
n.840-7C=
c.159-7C= (n.159-7C=)
c.*347-7C= (n.*347-7C=)
c.735-7C= (n.735-7C=)
c.1095-7C= (n.1095-7C=)
c.1092-7C= (n.1092-7C=)
c.360-7C= (n.360-7C=)
7g.151568849G>TCA2685699998PRKAG2c.381-7C>A (n.381-7C>A)
c.1104-7C>A (n.1104-7C>A)
c.1107-7C>A (n.1107-7C>A)
c.384-7C>A (n.384-7C>A)
c.167-7C>A
c.732-7C>A (n.732-7C>A)
n.601-7C>A
c.324-7C>A (n.324-7C>A)
n.1222-7C>A
c.*346+1322C>A (n.*346+1322C>A)
c.*426-7C>A (n.*426-7C>A)
c.975-7C>A (n.975-7C>A)
c.875-7C>A (n.875-7C>A)
c.972-7C>A (n.972-7C>A)
n.840-7C>A
c.159-7C>A (n.159-7C>A)
c.*347-7C>A (n.*347-7C>A)
c.735-7C>A (n.735-7C>A)
c.1095-7C>A (n.1095-7C>A)
c.1092-7C>A (n.1092-7C>A)
c.360-7C>A (n.360-7C>A)
 gnomAD v4
7g.151568849_151568852dupCA2739278934PRKAG2c.381-10_381-7dup (n.381-10_381-7dup)
c.1104-10_1104-7dup (n.1104-10_1104-7dup)
c.1107-10_1107-7dup (n.1107-10_1107-7dup)
c.384-10_384-7dup (n.384-10_384-7dup)
c.167-10_167-7dup
c.732-10_732-7dup (n.732-10_732-7dup)
n.601-10_601-7dup
c.324-10_324-7dup (n.324-10_324-7dup)
n.1222-10_1222-7dup
c.*346+1319_*346+1322dup (n.*346+1319_*346+1322dup)
c.*426-10_*426-7dup (n.*426-10_*426-7dup)
c.975-10_975-7dup (n.975-10_975-7dup)
c.875-10_875-7dup (n.875-10_875-7dup)
c.972-10_972-7dup (n.972-10_972-7dup)
n.840-10_840-7dup
c.159-10_159-7dup (n.159-10_159-7dup)
c.*347-10_*347-7dup (n.*347-10_*347-7dup)
c.735-10_735-7dup (n.735-10_735-7dup)
c.1095-10_1095-7dup (n.1095-10_1095-7dup)
c.1092-10_1092-7dup (n.1092-10_1092-7dup)
c.360-10_360-7dup (n.360-10_360-7dup)
 ClinVar

Number of alleles fetched