| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.151568801_151568802del | CA2685699983 | PRKAG2 | c.423_424del (p.His141GlnfsTer6) c.1146_1147del (p.His382GlnfsTer6) c.1149_1150del (p.His383GlnfsTer6) c.426_427del (p.His142GlnfsTer6) c.209_210del c.774_775del (p.His258GlnfsTer6) n.643_644del c.366_367del (p.His122GlnfsTer6) n.1264_1265del c.*346+1371_*346+1372del (n.*346+1371_*346+1372del) c.*468_*469del (n.*468_*469del) c.1017_1018del (p.His339GlnfsTer6) c.917_918del (n.917_918del) c.1014_1015del (p.His338GlnfsTer6) n.882_883del c.201_202del (p.His67GlnfsTer6) c.*389_*390del (n.*389_*390del) c.777_778del (p.His259GlnfsTer6) c.1137_1138del (p.His379GlnfsTer6) c.1134_1135del (p.His378GlnfsTer6) c.402_403del (p.His134GlnfsTer6) | gnomAD v4 |
| 7 | g.151568801T>A | CA370071589 | PRKAG2 | c.422A>T (p.His141Leu) c.1145A>T (p.His382Leu) c.1148A>T (p.His383Leu) c.425A>T (p.His142Leu) c.208A>T c.773A>T (p.His258Leu) n.642A>T c.365A>T (p.His122Leu) n.1263A>T c.*346+1370A>T (n.*346+1370A>T) c.*467A>T (n.*467A>T) c.1016A>T (p.His339Leu) c.916A>T (n.916A>T) c.1013A>T (p.His338Leu) n.881A>T c.200A>T (p.His67Leu) c.*388A>T (n.*388A>T) c.776A>T (p.His259Leu) c.1136A>T (p.His379Leu) c.1133A>T (p.His378Leu) c.401A>T (p.His134Leu) | |
| 7 | g.151568801T>C | CA013609 | PRKAG2 | c.422A>G (p.His141Arg) c.1145A>G (p.His382Arg) c.1148A>G (p.His383Arg) c.425A>G (p.His142Arg) c.208A>G c.773A>G (p.His258Arg) n.642A>G c.365A>G (p.His122Arg) n.1263A>G c.*346+1370A>G (n.*346+1370A>G) c.*467A>G (n.*467A>G) c.1016A>G (p.His339Arg) c.916A>G (n.916A>G) c.1013A>G (p.His338Arg) n.881A>G c.200A>G (p.His67Arg) c.*388A>G (n.*388A>G) c.776A>G (p.His259Arg) c.1136A>G (p.His379Arg) c.1133A>G (p.His378Arg) c.401A>G (p.His134Arg) | ClinVar dbSNP |
| 7 | g.151568801T>G | CA370071590 | PRKAG2 | c.422A>C (p.His141Pro) c.1145A>C (p.His382Pro) c.1148A>C (p.His383Pro) c.425A>C (p.His142Pro) c.208A>C c.773A>C (p.His258Pro) n.642A>C c.365A>C (p.His122Pro) n.1263A>C c.*346+1370A>C (n.*346+1370A>C) c.*467A>C (n.*467A>C) c.1016A>C (p.His339Pro) c.916A>C (n.916A>C) c.1013A>C (p.His338Pro) n.881A>C c.200A>C (p.His67Pro) c.*388A>C (n.*388A>C) c.776A>C (p.His259Pro) c.1136A>C (p.His379Pro) c.1133A>C (p.His378Pro) c.401A>C (p.His134Pro) | |
| 7 | g.151568801T= | CA1752725638 | PRKAG2 | c.422A= (p.His141=) c.1145A= (p.His382=) c.1148A= (p.His383=) c.425A= (p.His142=) c.208A= c.773A= (p.His258=) n.642A= c.365A= (p.His122=) n.1263A= c.*346+1370A= (n.*346+1370A=) c.*467A= (n.*467A=) c.1016A= (p.His339=) c.916A= (n.916A=) c.1013A= (p.His338=) n.881A= c.200A= (p.His67=) c.*388A= (n.*388A=) c.776A= (p.His259=) c.1136A= (p.His379=) c.1133A= (p.His378=) c.401A= (p.His134=) | |
| 7 | g.151568802G>A | CA370071591 | PRKAG2 | c.421C>T (p.His141Tyr) c.1144C>T (p.His382Tyr) c.1147C>T (p.His383Tyr) c.424C>T (p.His142Tyr) c.207C>T c.772C>T (p.His258Tyr) n.641C>T c.364C>T (p.His122Tyr) n.1262C>T c.*346+1369C>T (n.*346+1369C>T) c.*466C>T (n.*466C>T) c.1015C>T (p.His339Tyr) c.915C>T (n.915C>T) c.1012C>T (p.His338Tyr) n.880C>T c.199C>T (p.His67Tyr) c.*387C>T (n.*387C>T) c.775C>T (p.His259Tyr) c.1135C>T (p.His379Tyr) c.1132C>T (p.His378Tyr) c.400C>T (p.His134Tyr) | |
| 7 | g.151568802G>C | CA370071592 | PRKAG2 | c.421C>G (p.His141Asp) c.1144C>G (p.His382Asp) c.1147C>G (p.His383Asp) c.424C>G (p.His142Asp) c.207C>G c.772C>G (p.His258Asp) n.641C>G c.364C>G (p.His122Asp) n.1262C>G c.*346+1369C>G (n.*346+1369C>G) c.*466C>G (n.*466C>G) c.1015C>G (p.His339Asp) c.915C>G (n.915C>G) c.1012C>G (p.His338Asp) n.880C>G c.199C>G (p.His67Asp) c.*387C>G (n.*387C>G) c.775C>G (p.His259Asp) c.1135C>G (p.His379Asp) c.1132C>G (p.His378Asp) c.400C>G (p.His134Asp) | |
| 7 | g.151568802G>T | CA370071593 | PRKAG2 | c.421C>A (p.His141Asn) c.1144C>A (p.His382Asn) c.1147C>A (p.His383Asn) c.424C>A (p.His142Asn) c.207C>A c.772C>A (p.His258Asn) n.641C>A c.364C>A (p.His122Asn) n.1262C>A c.*346+1369C>A (n.*346+1369C>A) c.*466C>A (n.*466C>A) c.1015C>A (p.His339Asn) c.915C>A (n.915C>A) c.1012C>A (p.His338Asn) n.880C>A c.199C>A (p.His67Asn) c.*387C>A (n.*387C>A) c.775C>A (p.His259Asn) c.1135C>A (p.His379Asn) c.1132C>A (p.His378Asn) c.400C>A (p.His134Asn) | |
| 7 | g.151568803G>A | CA053787 | PRKAG2 | c.420C>T (p.Ile140=) c.1143C>T (p.Ile381=) c.1146C>T (p.Ile382=) c.423C>T (p.Ile141=) c.206C>T c.771C>T (p.Ile257=) n.640C>T c.363C>T (p.Ile121=) n.1261C>T c.*346+1368C>T (n.*346+1368C>T) c.*465C>T (n.*465C>T) c.1014C>T (p.Ile338=) c.914C>T (n.914C>T) c.1011C>T (p.Ile337=) n.879C>T c.198C>T (p.Ile66=) c.*386C>T (n.*386C>T) c.774C>T (p.Ile258=) c.1134C>T (p.Ile378=) c.1131C>T (p.Ile377=) c.399C>T (p.Ile133=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.151568803G>C | CA370071594 | PRKAG2 | c.420C>G (p.Ile140Met) c.1143C>G (p.Ile381Met) c.1146C>G (p.Ile382Met) c.423C>G (p.Ile141Met) c.206C>G c.771C>G (p.Ile257Met) n.640C>G c.363C>G (p.Ile121Met) n.1261C>G c.*346+1368C>G (n.*346+1368C>G) c.*465C>G (n.*465C>G) c.1014C>G (p.Ile338Met) c.914C>G (n.914C>G) c.1011C>G (p.Ile337Met) n.879C>G c.198C>G (p.Ile66Met) c.*386C>G (n.*386C>G) c.774C>G (p.Ile258Met) c.1134C>G (p.Ile378Met) c.1131C>G (p.Ile377Met) c.399C>G (p.Ile133Met) | |
| 7 | g.151568803G= | CA1752725646 | PRKAG2 | c.420C= (p.Ile140=) c.1143C= (p.Ile381=) c.1146C= (p.Ile382=) c.423C= (p.Ile141=) c.206C= c.771C= (p.Ile257=) n.640C= c.363C= (p.Ile121=) n.1261C= c.*346+1368C= (n.*346+1368C=) c.*465C= (n.*465C=) c.1014C= (p.Ile338=) c.914C= (n.914C=) c.1011C= (p.Ile337=) n.879C= c.198C= (p.Ile66=) c.*386C= (n.*386C=) c.774C= (p.Ile258=) c.1134C= (p.Ile378=) c.1131C= (p.Ile377=) c.399C= (p.Ile133=) | |
| 7 | g.151568803G>T | CA458669059 | PRKAG2 | c.420C>A (p.Ile140=) c.1143C>A (p.Ile381=) c.1146C>A (p.Ile382=) c.423C>A (p.Ile141=) c.206C>A c.771C>A (p.Ile257=) n.640C>A c.363C>A (p.Ile121=) n.1261C>A c.*346+1368C>A (n.*346+1368C>A) c.*465C>A (n.*465C>A) c.1014C>A (p.Ile338=) c.914C>A (n.914C>A) c.1011C>A (p.Ile337=) n.879C>A c.198C>A (p.Ile66=) c.*386C>A (n.*386C>A) c.774C>A (p.Ile258=) c.1134C>A (p.Ile378=) c.1131C>A (p.Ile377=) c.399C>A (p.Ile133=) | |
| 7 | g.151568804A>C | CA370071597 | PRKAG2 | c.419T>G (p.Ile140Ser) c.1142T>G (p.Ile381Ser) c.1145T>G (p.Ile382Ser) c.422T>G (p.Ile141Ser) c.205T>G c.770T>G (p.Ile257Ser) n.639T>G c.362T>G (p.Ile121Ser) n.1260T>G c.*346+1367T>G (n.*346+1367T>G) c.*464T>G (n.*464T>G) c.1013T>G (p.Ile338Ser) c.913T>G (n.913T>G) c.1010T>G (p.Ile337Ser) n.878T>G c.197T>G (p.Ile66Ser) c.*385T>G (n.*385T>G) c.773T>G (p.Ile258Ser) c.1133T>G (p.Ile378Ser) c.1130T>G (p.Ile377Ser) c.398T>G (p.Ile133Ser) | |
| 7 | g.151568804A>G | CA370071596 | PRKAG2 | c.419T>C (p.Ile140Thr) c.1142T>C (p.Ile381Thr) c.1145T>C (p.Ile382Thr) c.422T>C (p.Ile141Thr) c.205T>C c.770T>C (p.Ile257Thr) n.639T>C c.362T>C (p.Ile121Thr) n.1260T>C c.*346+1367T>C (n.*346+1367T>C) c.*464T>C (n.*464T>C) c.1013T>C (p.Ile338Thr) c.913T>C (n.913T>C) c.1010T>C (p.Ile337Thr) n.878T>C c.197T>C (p.Ile66Thr) c.*385T>C (n.*385T>C) c.773T>C (p.Ile258Thr) c.1133T>C (p.Ile378Thr) c.1130T>C (p.Ile377Thr) c.398T>C (p.Ile133Thr) | |
| 7 | g.151568804A>T | CA370071595 | PRKAG2 | c.419T>A (p.Ile140Asn) c.1142T>A (p.Ile381Asn) c.1145T>A (p.Ile382Asn) c.422T>A (p.Ile141Asn) c.205T>A c.770T>A (p.Ile257Asn) n.639T>A c.362T>A (p.Ile121Asn) n.1260T>A c.*346+1367T>A (n.*346+1367T>A) c.*464T>A (n.*464T>A) c.1013T>A (p.Ile338Asn) c.913T>A (n.913T>A) c.1010T>A (p.Ile337Asn) n.878T>A c.197T>A (p.Ile66Asn) c.*385T>A (n.*385T>A) c.773T>A (p.Ile258Asn) c.1133T>A (p.Ile378Asn) c.1130T>A (p.Ile377Asn) c.398T>A (p.Ile133Asn) | |
| 7 | g.151568805T>A | CA370071598 | PRKAG2 | c.418A>T (p.Ile140Phe) c.1141A>T (p.Ile381Phe) c.1144A>T (p.Ile382Phe) c.421A>T (p.Ile141Phe) c.204A>T c.769A>T (p.Ile257Phe) n.638A>T c.361A>T (p.Ile121Phe) n.1259A>T c.*346+1366A>T (n.*346+1366A>T) c.*463A>T (n.*463A>T) c.1012A>T (p.Ile338Phe) c.912A>T (n.912A>T) c.1009A>T (p.Ile337Phe) n.877A>T c.196A>T (p.Ile66Phe) c.*384A>T (n.*384A>T) c.772A>T (p.Ile258Phe) c.1132A>T (p.Ile378Phe) c.1129A>T (p.Ile377Phe) c.397A>T (p.Ile133Phe) | |
| 7 | g.151568805T>C | CA370071599 | PRKAG2 | c.418A>G (p.Ile140Val) c.1141A>G (p.Ile381Val) c.1144A>G (p.Ile382Val) c.421A>G (p.Ile141Val) c.204A>G c.769A>G (p.Ile257Val) n.638A>G c.361A>G (p.Ile121Val) n.1259A>G c.*346+1366A>G (n.*346+1366A>G) c.*463A>G (n.*463A>G) c.1012A>G (p.Ile338Val) c.912A>G (n.912A>G) c.1009A>G (p.Ile337Val) n.877A>G c.196A>G (p.Ile66Val) c.*384A>G (n.*384A>G) c.772A>G (p.Ile258Val) c.1132A>G (p.Ile378Val) c.1129A>G (p.Ile377Val) c.397A>G (p.Ile133Val) | |
| 7 | g.151568805T>G | CA370071600 | PRKAG2 | c.418A>C (p.Ile140Leu) c.1141A>C (p.Ile381Leu) c.1144A>C (p.Ile382Leu) c.421A>C (p.Ile141Leu) c.204A>C c.769A>C (p.Ile257Leu) n.638A>C c.361A>C (p.Ile121Leu) n.1259A>C c.*346+1366A>C (n.*346+1366A>C) c.*463A>C (n.*463A>C) c.1012A>C (p.Ile338Leu) c.912A>C (n.912A>C) c.1009A>C (p.Ile337Leu) n.877A>C c.196A>C (p.Ile66Leu) c.*384A>C (n.*384A>C) c.772A>C (p.Ile258Leu) c.1132A>C (p.Ile378Leu) c.1129A>C (p.Ile377Leu) c.397A>C (p.Ile133Leu) | |
| 7 | g.151568806T>A | CA370071601 | PRKAG2 | c.417A>T (p.Lys139Asn) c.1140A>T (p.Lys380Asn) c.1143A>T (p.Lys381Asn) c.420A>T (p.Lys140Asn) c.203A>T c.768A>T (p.Lys256Asn) n.637A>T c.360A>T (p.Lys120Asn) n.1258A>T c.*346+1365A>T (n.*346+1365A>T) c.*462A>T (n.*462A>T) c.1011A>T (p.Lys337Asn) c.911A>T (n.911A>T) c.1008A>T (p.Lys336Asn) n.876A>T c.195A>T (p.Lys65Asn) c.*383A>T (n.*383A>T) c.771A>T (p.Lys257Asn) c.1131A>T (p.Lys377Asn) c.1128A>T (p.Lys376Asn) c.396A>T (p.Lys132Asn) | |
| 7 | g.151568806T>C | CA458669063 | PRKAG2 | c.417A>G (p.Lys139=) c.1140A>G (p.Lys380=) c.1143A>G (p.Lys381=) c.420A>G (p.Lys140=) c.203A>G c.768A>G (p.Lys256=) n.637A>G c.360A>G (p.Lys120=) n.1258A>G c.*346+1365A>G (n.*346+1365A>G) c.*462A>G (n.*462A>G) c.1011A>G (p.Lys337=) c.911A>G (n.911A>G) c.1008A>G (p.Lys336=) n.876A>G c.195A>G (p.Lys65=) c.*383A>G (n.*383A>G) c.771A>G (p.Lys257=) c.1131A>G (p.Lys377=) c.1128A>G (p.Lys376=) c.396A>G (p.Lys132=) | |
| 7 | g.151568806T>G | CA370071602 | PRKAG2 | c.417A>C (p.Lys139Asn) c.1140A>C (p.Lys380Asn) c.1143A>C (p.Lys381Asn) c.420A>C (p.Lys140Asn) c.203A>C c.768A>C (p.Lys256Asn) n.637A>C c.360A>C (p.Lys120Asn) n.1258A>C c.*346+1365A>C (n.*346+1365A>C) c.*462A>C (n.*462A>C) c.1011A>C (p.Lys337Asn) c.911A>C (n.911A>C) c.1008A>C (p.Lys336Asn) n.876A>C c.195A>C (p.Lys65Asn) c.*383A>C (n.*383A>C) c.771A>C (p.Lys257Asn) c.1131A>C (p.Lys377Asn) c.1128A>C (p.Lys376Asn) c.396A>C (p.Lys132Asn) | |
| 7 | g.151568807T>A | CA370071603 | PRKAG2 | c.416A>T (p.Lys139Ile) c.1139A>T (p.Lys380Ile) c.1142A>T (p.Lys381Ile) c.419A>T (p.Lys140Ile) c.202A>T c.767A>T (p.Lys256Ile) n.636A>T c.359A>T (p.Lys120Ile) n.1257A>T c.*346+1364A>T (n.*346+1364A>T) c.*461A>T (n.*461A>T) c.1010A>T (p.Lys337Ile) c.910A>T (n.910A>T) c.1007A>T (p.Lys336Ile) n.875A>T c.194A>T (p.Lys65Ile) c.*382A>T (n.*382A>T) c.770A>T (p.Lys257Ile) c.1130A>T (p.Lys377Ile) c.1127A>T (p.Lys376Ile) c.395A>T (p.Lys132Ile) | |
| 7 | g.151568807T>C | CA370071604 | PRKAG2 | c.416A>G (p.Lys139Arg) c.1139A>G (p.Lys380Arg) c.1142A>G (p.Lys381Arg) c.419A>G (p.Lys140Arg) c.202A>G c.767A>G (p.Lys256Arg) n.636A>G c.359A>G (p.Lys120Arg) n.1257A>G c.*346+1364A>G (n.*346+1364A>G) c.*461A>G (n.*461A>G) c.1010A>G (p.Lys337Arg) c.910A>G (n.910A>G) c.1007A>G (p.Lys336Arg) n.875A>G c.194A>G (p.Lys65Arg) c.*382A>G (n.*382A>G) c.770A>G (p.Lys257Arg) c.1130A>G (p.Lys377Arg) c.1127A>G (p.Lys376Arg) c.395A>G (p.Lys132Arg) | |
| 7 | g.151568807T>G | CA370071605 | PRKAG2 | c.416A>C (p.Lys139Thr) c.1139A>C (p.Lys380Thr) c.1142A>C (p.Lys381Thr) c.419A>C (p.Lys140Thr) c.202A>C c.767A>C (p.Lys256Thr) n.636A>C c.359A>C (p.Lys120Thr) n.1257A>C c.*346+1364A>C (n.*346+1364A>C) c.*461A>C (n.*461A>C) c.1010A>C (p.Lys337Thr) c.910A>C (n.910A>C) c.1007A>C (p.Lys336Thr) n.875A>C c.194A>C (p.Lys65Thr) c.*382A>C (n.*382A>C) c.770A>C (p.Lys257Thr) c.1130A>C (p.Lys377Thr) c.1127A>C (p.Lys376Thr) c.395A>C (p.Lys132Thr) | |
| 7 | g.151568808T>A | CA370071606 | PRKAG2 | c.415A>T (p.Lys139Ter) c.1138A>T (p.Lys380Ter) c.1141A>T (p.Lys381Ter) c.418A>T (p.Lys140Ter) c.201A>T c.766A>T (p.Lys256Ter) n.635A>T c.358A>T (p.Lys120Ter) n.1256A>T c.*346+1363A>T (n.*346+1363A>T) c.*460A>T (n.*460A>T) c.1009A>T (p.Lys337Ter) c.909A>T (n.909A>T) c.1006A>T (p.Lys336Ter) n.874A>T c.193A>T (p.Lys65Ter) c.*381A>T (n.*381A>T) c.769A>T (p.Lys257Ter) c.1129A>T (p.Lys377Ter) c.1126A>T (p.Lys376Ter) c.394A>T (p.Lys132Ter) | |
| 7 | g.151568808T>C | CA370071607 | PRKAG2 | c.415A>G (p.Lys139Glu) c.1138A>G (p.Lys380Glu) c.1141A>G (p.Lys381Glu) c.418A>G (p.Lys140Glu) c.201A>G c.766A>G (p.Lys256Glu) n.635A>G c.358A>G (p.Lys120Glu) n.1256A>G c.*346+1363A>G (n.*346+1363A>G) c.*460A>G (n.*460A>G) c.1009A>G (p.Lys337Glu) c.909A>G (n.909A>G) c.1006A>G (p.Lys336Glu) n.874A>G c.193A>G (p.Lys65Glu) c.*381A>G (n.*381A>G) c.769A>G (p.Lys257Glu) c.1129A>G (p.Lys377Glu) c.1126A>G (p.Lys376Glu) c.394A>G (p.Lys132Glu) | dbSNP |
| 7 | g.151568808T>G | CA370071608 | PRKAG2 | c.415A>C (p.Lys139Gln) c.1138A>C (p.Lys380Gln) c.1141A>C (p.Lys381Gln) c.418A>C (p.Lys140Gln) c.201A>C c.766A>C (p.Lys256Gln) n.635A>C c.358A>C (p.Lys120Gln) n.1256A>C c.*346+1363A>C (n.*346+1363A>C) c.*460A>C (n.*460A>C) c.1009A>C (p.Lys337Gln) c.909A>C (n.909A>C) c.1006A>C (p.Lys336Gln) n.874A>C c.193A>C (p.Lys65Gln) c.*381A>C (n.*381A>C) c.769A>C (p.Lys257Gln) c.1129A>C (p.Lys377Gln) c.1126A>C (p.Lys376Gln) c.394A>C (p.Lys132Gln) | |
| 7 | g.151568808T= | CA1752725653 | PRKAG2 | c.415A= (p.Lys139=) c.1138A= (p.Lys380=) c.1141A= (p.Lys381=) c.418A= (p.Lys140=) c.201A= c.766A= (p.Lys256=) n.635A= c.358A= (p.Lys120=) n.1256A= c.*346+1363A= (n.*346+1363A=) c.*460A= (n.*460A=) c.1009A= (p.Lys337=) c.909A= (n.909A=) c.1006A= (p.Lys336=) n.874A= c.193A= (p.Lys65=) c.*381A= (n.*381A=) c.769A= (p.Lys257=) c.1129A= (p.Lys377=) c.1126A= (p.Lys376=) c.394A= (p.Lys132=) | |
| 7 | g.151568809A>C | CA370071609 | PRKAG2 | c.414T>G (p.Asn138Lys) c.1137T>G (p.Asn379Lys) c.1140T>G (p.Asn380Lys) c.417T>G (p.Asn139Lys) c.200T>G c.765T>G (p.Asn255Lys) n.634T>G c.357T>G (p.Asn119Lys) n.1255T>G c.*346+1362T>G (n.*346+1362T>G) c.*459T>G (n.*459T>G) c.1008T>G (p.Asn336Lys) c.908T>G (n.908T>G) c.1005T>G (p.Asn335Lys) n.873T>G c.192T>G (p.Asn64Lys) c.*380T>G (n.*380T>G) c.768T>G (p.Asn256Lys) c.1128T>G (p.Asn376Lys) c.1125T>G (p.Asn375Lys) c.393T>G (p.Asn131Lys) | |
| 7 | g.151568809A>G | CA458669065 | PRKAG2 | c.414T>C (p.Asn138=) c.1137T>C (p.Asn379=) c.1140T>C (p.Asn380=) c.417T>C (p.Asn139=) c.200T>C c.765T>C (p.Asn255=) n.634T>C c.357T>C (p.Asn119=) n.1255T>C c.*346+1362T>C (n.*346+1362T>C) c.*459T>C (n.*459T>C) c.1008T>C (p.Asn336=) c.908T>C (n.908T>C) c.1005T>C (p.Asn335=) n.873T>C c.192T>C (p.Asn64=) c.*380T>C (n.*380T>C) c.768T>C (p.Asn256=) c.1128T>C (p.Asn376=) c.1125T>C (p.Asn375=) c.393T>C (p.Asn131=) | |
| 7 | g.151568809A>T | CA370071610 | PRKAG2 | c.414T>A (p.Asn138Lys) c.1137T>A (p.Asn379Lys) c.1140T>A (p.Asn380Lys) c.417T>A (p.Asn139Lys) c.200T>A c.765T>A (p.Asn255Lys) n.634T>A c.357T>A (p.Asn119Lys) n.1255T>A c.*346+1362T>A (n.*346+1362T>A) c.*459T>A (n.*459T>A) c.1008T>A (p.Asn336Lys) c.908T>A (n.908T>A) c.1005T>A (p.Asn335Lys) n.873T>A c.192T>A (p.Asn64Lys) c.*380T>A (n.*380T>A) c.768T>A (p.Asn256Lys) c.1128T>A (p.Asn376Lys) c.1125T>A (p.Asn375Lys) c.393T>A (p.Asn131Lys) | |
| 7 | g.151568810T>A | CA370071613 | PRKAG2 | c.413A>T (p.Asn138Ile) c.1136A>T (p.Asn379Ile) c.1139A>T (p.Asn380Ile) c.416A>T (p.Asn139Ile) c.199A>T c.764A>T (p.Asn255Ile) n.633A>T c.356A>T (p.Asn119Ile) n.1254A>T c.*346+1361A>T (n.*346+1361A>T) c.*458A>T (n.*458A>T) c.1007A>T (p.Asn336Ile) c.907A>T (n.907A>T) c.1004A>T (p.Asn335Ile) n.872A>T c.191A>T (p.Asn64Ile) c.*379A>T (n.*379A>T) c.767A>T (p.Asn256Ile) c.1127A>T (p.Asn376Ile) c.1124A>T (p.Asn375Ile) c.392A>T (p.Asn131Ile) | |
| 7 | g.151568810T>C | CA370071611 | PRKAG2 | c.413A>G (p.Asn138Ser) c.1136A>G (p.Asn379Ser) c.1139A>G (p.Asn380Ser) c.416A>G (p.Asn139Ser) c.199A>G c.764A>G (p.Asn255Ser) n.633A>G c.356A>G (p.Asn119Ser) n.1254A>G c.*346+1361A>G (n.*346+1361A>G) c.*458A>G (n.*458A>G) c.1007A>G (p.Asn336Ser) c.907A>G (n.907A>G) c.1004A>G (p.Asn335Ser) n.872A>G c.191A>G (p.Asn64Ser) c.*379A>G (n.*379A>G) c.767A>G (p.Asn256Ser) c.1127A>G (p.Asn376Ser) c.1124A>G (p.Asn375Ser) c.392A>G (p.Asn131Ser) | |
| 7 | g.151568810T>G | CA370071612 | PRKAG2 | c.413A>C (p.Asn138Thr) c.1136A>C (p.Asn379Thr) c.1139A>C (p.Asn380Thr) c.416A>C (p.Asn139Thr) c.199A>C c.764A>C (p.Asn255Thr) n.633A>C c.356A>C (p.Asn119Thr) n.1254A>C c.*346+1361A>C (n.*346+1361A>C) c.*458A>C (n.*458A>C) c.1007A>C (p.Asn336Thr) c.907A>C (n.907A>C) c.1004A>C (p.Asn335Thr) n.872A>C c.191A>C (p.Asn64Thr) c.*379A>C (n.*379A>C) c.767A>C (p.Asn256Thr) c.1127A>C (p.Asn376Thr) c.1124A>C (p.Asn375Thr) c.392A>C (p.Asn131Thr) | |
| 7 | g.151568811T>A | CA370071614 | PRKAG2 | c.412A>T (p.Asn138Tyr) c.1135A>T (p.Asn379Tyr) c.1138A>T (p.Asn380Tyr) c.415A>T (p.Asn139Tyr) c.198A>T c.763A>T (p.Asn255Tyr) n.632A>T c.355A>T (p.Asn119Tyr) n.1253A>T c.*346+1360A>T (n.*346+1360A>T) c.*457A>T (n.*457A>T) c.1006A>T (p.Asn336Tyr) c.906A>T (n.906A>T) c.1003A>T (p.Asn335Tyr) n.871A>T c.190A>T (p.Asn64Tyr) c.*378A>T (n.*378A>T) c.766A>T (p.Asn256Tyr) c.1126A>T (p.Asn376Tyr) c.1123A>T (p.Asn375Tyr) c.391A>T (p.Asn131Tyr) | |
| 7 | g.151568811T>C | CA370071615 | PRKAG2 | c.412A>G (p.Asn138Asp) c.1135A>G (p.Asn379Asp) c.1138A>G (p.Asn380Asp) c.415A>G (p.Asn139Asp) c.198A>G c.763A>G (p.Asn255Asp) n.632A>G c.355A>G (p.Asn119Asp) n.1253A>G c.*346+1360A>G (n.*346+1360A>G) c.*457A>G (n.*457A>G) c.1006A>G (p.Asn336Asp) c.906A>G (n.906A>G) c.1003A>G (p.Asn335Asp) n.871A>G c.190A>G (p.Asn64Asp) c.*378A>G (n.*378A>G) c.766A>G (p.Asn256Asp) c.1126A>G (p.Asn376Asp) c.1123A>G (p.Asn375Asp) c.391A>G (p.Asn131Asp) | |
| 7 | g.151568811T>G | CA370071616 | PRKAG2 | c.412A>C (p.Asn138His) c.1135A>C (p.Asn379His) c.1138A>C (p.Asn380His) c.415A>C (p.Asn139His) c.198A>C c.763A>C (p.Asn255His) n.632A>C c.355A>C (p.Asn119His) n.1253A>C c.*346+1360A>C (n.*346+1360A>C) c.*457A>C (n.*457A>C) c.1006A>C (p.Asn336His) c.906A>C (n.906A>C) c.1003A>C (p.Asn335His) n.871A>C c.190A>C (p.Asn64His) c.*378A>C (n.*378A>C) c.766A>C (p.Asn256His) c.1126A>C (p.Asn376His) c.1123A>C (p.Asn375His) c.391A>C (p.Asn131His) | |
| 7 | g.151568812T>A | CA370071617 | PRKAG2 | c.411A>T (p.Lys137Asn) c.1134A>T (p.Lys378Asn) c.1137A>T (p.Lys379Asn) c.414A>T (p.Lys138Asn) c.197A>T c.762A>T (p.Lys254Asn) n.631A>T c.354A>T (p.Lys118Asn) n.1252A>T c.*346+1359A>T (n.*346+1359A>T) c.*456A>T (n.*456A>T) c.1005A>T (p.Lys335Asn) c.905A>T (n.905A>T) c.1002A>T (p.Lys334Asn) n.870A>T c.189A>T (p.Lys63Asn) c.*377A>T (n.*377A>T) c.765A>T (p.Lys255Asn) c.1125A>T (p.Lys375Asn) c.1122A>T (p.Lys374Asn) c.390A>T (p.Lys130Asn) | |
| 7 | g.151568812T>C | CA458669072 | PRKAG2 | c.411A>G (p.Lys137=) c.1134A>G (p.Lys378=) c.1137A>G (p.Lys379=) c.414A>G (p.Lys138=) c.197A>G c.762A>G (p.Lys254=) n.631A>G c.354A>G (p.Lys118=) n.1252A>G c.*346+1359A>G (n.*346+1359A>G) c.*456A>G (n.*456A>G) c.1005A>G (p.Lys335=) c.905A>G (n.905A>G) c.1002A>G (p.Lys334=) n.870A>G c.189A>G (p.Lys63=) c.*377A>G (n.*377A>G) c.765A>G (p.Lys255=) c.1125A>G (p.Lys375=) c.1122A>G (p.Lys374=) c.390A>G (p.Lys130=) | |
| 7 | g.151568812T>G | CA370071618 | PRKAG2 | c.411A>C (p.Lys137Asn) c.1134A>C (p.Lys378Asn) c.1137A>C (p.Lys379Asn) c.414A>C (p.Lys138Asn) c.197A>C c.762A>C (p.Lys254Asn) n.631A>C c.354A>C (p.Lys118Asn) n.1252A>C c.*346+1359A>C (n.*346+1359A>C) c.*456A>C (n.*456A>C) c.1005A>C (p.Lys335Asn) c.905A>C (n.905A>C) c.1002A>C (p.Lys334Asn) n.870A>C c.189A>C (p.Lys63Asn) c.*377A>C (n.*377A>C) c.765A>C (p.Lys255Asn) c.1125A>C (p.Lys375Asn) c.1122A>C (p.Lys374Asn) c.390A>C (p.Lys130Asn) | |
| 7 | g.151568813T>A | CA370071619 | PRKAG2 | c.410A>T (p.Lys137Ile) c.1133A>T (p.Lys378Ile) c.1136A>T (p.Lys379Ile) c.413A>T (p.Lys138Ile) c.196A>T c.761A>T (p.Lys254Ile) n.630A>T c.353A>T (p.Lys118Ile) n.1251A>T c.*346+1358A>T (n.*346+1358A>T) c.*455A>T (n.*455A>T) c.1004A>T (p.Lys335Ile) c.904A>T (n.904A>T) c.1001A>T (p.Lys334Ile) n.869A>T c.188A>T (p.Lys63Ile) c.*376A>T (n.*376A>T) c.764A>T (p.Lys255Ile) c.1124A>T (p.Lys375Ile) c.1121A>T (p.Lys374Ile) c.389A>T (p.Lys130Ile) | |
| 7 | g.151568813T>C | CA370071620 | PRKAG2 | c.410A>G (p.Lys137Arg) c.1133A>G (p.Lys378Arg) c.1136A>G (p.Lys379Arg) c.413A>G (p.Lys138Arg) c.196A>G c.761A>G (p.Lys254Arg) n.630A>G c.353A>G (p.Lys118Arg) n.1251A>G c.*346+1358A>G (n.*346+1358A>G) c.*455A>G (n.*455A>G) c.1004A>G (p.Lys335Arg) c.904A>G (n.904A>G) c.1001A>G (p.Lys334Arg) n.869A>G c.188A>G (p.Lys63Arg) c.*376A>G (n.*376A>G) c.764A>G (p.Lys255Arg) c.1124A>G (p.Lys375Arg) c.1121A>G (p.Lys374Arg) c.389A>G (p.Lys130Arg) | |
| 7 | g.151568813T>G | CA370071621 | PRKAG2 | c.410A>C (p.Lys137Thr) c.1133A>C (p.Lys378Thr) c.1136A>C (p.Lys379Thr) c.413A>C (p.Lys138Thr) c.196A>C c.761A>C (p.Lys254Thr) n.630A>C c.353A>C (p.Lys118Thr) n.1251A>C c.*346+1358A>C (n.*346+1358A>C) c.*455A>C (n.*455A>C) c.1004A>C (p.Lys335Thr) c.904A>C (n.904A>C) c.1001A>C (p.Lys334Thr) n.869A>C c.188A>C (p.Lys63Thr) c.*376A>C (n.*376A>C) c.764A>C (p.Lys255Thr) c.1124A>C (p.Lys375Thr) c.1121A>C (p.Lys374Thr) c.389A>C (p.Lys130Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.151568813T= | CA1752725657 | PRKAG2 | c.410A= (p.Lys137=) c.1133A= (p.Lys378=) c.1136A= (p.Lys379=) c.413A= (p.Lys138=) c.196A= c.761A= (p.Lys254=) n.630A= c.353A= (p.Lys118=) n.1251A= c.*346+1358A= (n.*346+1358A=) c.*455A= (n.*455A=) c.1004A= (p.Lys335=) c.904A= (n.904A=) c.1001A= (p.Lys334=) n.869A= c.188A= (p.Lys63=) c.*376A= (n.*376A=) c.764A= (p.Lys255=) c.1124A= (p.Lys375=) c.1121A= (p.Lys374=) c.389A= (p.Lys130=) | |
| 7 | g.151568814T>A | CA370071622 | PRKAG2 | c.409A>T (p.Lys137Ter) c.1132A>T (p.Lys378Ter) c.1135A>T (p.Lys379Ter) c.412A>T (p.Lys138Ter) c.195A>T c.760A>T (p.Lys254Ter) n.629A>T c.352A>T (p.Lys118Ter) n.1250A>T c.*346+1357A>T (n.*346+1357A>T) c.*454A>T (n.*454A>T) c.1003A>T (p.Lys335Ter) c.903A>T (n.903A>T) c.1000A>T (p.Lys334Ter) n.868A>T c.187A>T (p.Lys63Ter) c.*375A>T (n.*375A>T) c.763A>T (p.Lys255Ter) c.1123A>T (p.Lys375Ter) c.1120A>T (p.Lys374Ter) c.388A>T (p.Lys130Ter) | |
| 7 | g.151568814T>C | CA370071623 | PRKAG2 | c.409A>G (p.Lys137Glu) c.1132A>G (p.Lys378Glu) c.1135A>G (p.Lys379Glu) c.412A>G (p.Lys138Glu) c.195A>G c.760A>G (p.Lys254Glu) n.629A>G c.352A>G (p.Lys118Glu) n.1250A>G c.*346+1357A>G (n.*346+1357A>G) c.*454A>G (n.*454A>G) c.1003A>G (p.Lys335Glu) c.903A>G (n.903A>G) c.1000A>G (p.Lys334Glu) n.868A>G c.187A>G (p.Lys63Glu) c.*375A>G (n.*375A>G) c.763A>G (p.Lys255Glu) c.1123A>G (p.Lys375Glu) c.1120A>G (p.Lys374Glu) c.388A>G (p.Lys130Glu) | |
| 7 | g.151568814T>G | CA370071624 | PRKAG2 | c.409A>C (p.Lys137Gln) c.1132A>C (p.Lys378Gln) c.1135A>C (p.Lys379Gln) c.412A>C (p.Lys138Gln) c.195A>C c.760A>C (p.Lys254Gln) n.629A>C c.352A>C (p.Lys118Gln) n.1250A>C c.*346+1357A>C (n.*346+1357A>C) c.*454A>C (n.*454A>C) c.1003A>C (p.Lys335Gln) c.903A>C (n.903A>C) c.1000A>C (p.Lys334Gln) n.868A>C c.187A>C (p.Lys63Gln) c.*375A>C (n.*375A>C) c.763A>C (p.Lys255Gln) c.1123A>C (p.Lys375Gln) c.1120A>C (p.Lys374Gln) c.388A>C (p.Lys130Gln) | |
| 7 | g.151568815G>A | CA458669073 | PRKAG2 | c.408C>T (p.Ile136=) c.1131C>T (p.Ile377=) c.1134C>T (p.Ile378=) c.411C>T (p.Ile137=) c.194C>T c.759C>T (p.Ile253=) n.628C>T c.351C>T (p.Ile117=) n.1249C>T c.*346+1356C>T (n.*346+1356C>T) c.*453C>T (n.*453C>T) c.1002C>T (p.Ile334=) c.902C>T (n.902C>T) c.999C>T (p.Ile333=) n.867C>T c.186C>T (p.Ile62=) c.*374C>T (n.*374C>T) c.762C>T (p.Ile254=) c.1122C>T (p.Ile374=) c.1119C>T (p.Ile373=) c.387C>T (p.Ile129=) | |
| 7 | g.151568815G>C | CA370071625 | PRKAG2 | c.408C>G (p.Ile136Met) c.1131C>G (p.Ile377Met) c.1134C>G (p.Ile378Met) c.411C>G (p.Ile137Met) c.194C>G c.759C>G (p.Ile253Met) n.628C>G c.351C>G (p.Ile117Met) n.1249C>G c.*346+1356C>G (n.*346+1356C>G) c.*453C>G (n.*453C>G) c.1002C>G (p.Ile334Met) c.902C>G (n.902C>G) c.999C>G (p.Ile333Met) n.867C>G c.186C>G (p.Ile62Met) c.*374C>G (n.*374C>G) c.762C>G (p.Ile254Met) c.1122C>G (p.Ile374Met) c.1119C>G (p.Ile373Met) c.387C>G (p.Ile129Met) | |
| 7 | g.151568815G>T | CA458669074 | PRKAG2 | c.408C>A (p.Ile136=) c.1131C>A (p.Ile377=) c.1134C>A (p.Ile378=) c.411C>A (p.Ile137=) c.194C>A c.759C>A (p.Ile253=) n.628C>A c.351C>A (p.Ile117=) n.1249C>A c.*346+1356C>A (n.*346+1356C>A) c.*453C>A (n.*453C>A) c.1002C>A (p.Ile334=) c.902C>A (n.902C>A) c.999C>A (p.Ile333=) n.867C>A c.186C>A (p.Ile62=) c.*374C>A (n.*374C>A) c.762C>A (p.Ile254=) c.1122C>A (p.Ile374=) c.1119C>A (p.Ile373=) c.387C>A (p.Ile129=) |