Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.89257779G>A | CA3920050 | GABRR2 | c.1289C>T (p.Thr430Met) n.1120C>T c.1157C>T (p.Thr386Met) c.992C>T (p.Thr331Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.89257779G>C | CA364954695 | GABRR2 | c.1289C>G (p.Thr430Arg) n.1120C>G c.1157C>G (p.Thr386Arg) c.992C>G (p.Thr331Arg) | dbSNP |
6 | g.89257779G= | CA1645371256 | GABRR2 | c.1289C= (p.Thr430=) n.1120C= c.1157C= (p.Thr386=) c.992C= (p.Thr331=) | |
6 | g.89257779G>T | CA364954696 | GABRR2 | c.1289C>A (p.Thr430Lys) n.1120C>A c.1157C>A (p.Thr386Lys) c.992C>A (p.Thr331Lys) | |
6 | g.89257780T>A | CA364954697 | GABRR2 | c.1288A>T (p.Thr430Ser) n.1119A>T c.1156A>T (p.Thr386Ser) c.991A>T (p.Thr331Ser) | |
6 | g.89257780T>C | CA364954698 | GABRR2 | c.1288A>G (p.Thr430Ala) n.1119A>G c.1156A>G (p.Thr386Ala) c.991A>G (p.Thr331Ala) | |
6 | g.89257780T>G | CA364954699 | GABRR2 | c.1288A>C (p.Thr430Pro) n.1119A>C c.1156A>C (p.Thr386Pro) c.991A>C (p.Thr331Pro) | |
6 | g.89257781C>A | CA364954700 | GABRR2 | c.1287G>T (p.Gln429His) n.1118G>T c.1155G>T (p.Gln385His) c.990G>T (p.Gln330His) | |
6 | g.89257781C>G | CA364954701 | GABRR2 | c.1287G>C (p.Gln429His) n.1118G>C c.1155G>C (p.Gln385His) c.990G>C (p.Gln330His) | gnomAD v4 |
6 | g.89257781C>T | CA451348439 | GABRR2 | c.1287G>A (p.Gln429=) n.1118G>A c.1155G>A (p.Gln385=) c.990G>A (p.Gln330=) | |
6 | g.89257782T>A | CA364954702 | GABRR2 | c.1286A>T (p.Gln429Leu) n.1117A>T c.1154A>T (p.Gln385Leu) c.989A>T (p.Gln330Leu) | |
6 | g.89257782T>C | CA364954703 | GABRR2 | c.1286A>G (p.Gln429Arg) n.1117A>G c.1154A>G (p.Gln385Arg) c.989A>G (p.Gln330Arg) | |
6 | g.89257782T>G | CA364954704 | GABRR2 | c.1286A>C (p.Gln429Pro) n.1117A>C c.1154A>C (p.Gln385Pro) c.989A>C (p.Gln330Pro) | |
6 | g.89257783G>A | CA364954705 | GABRR2 | c.1285C>T (p.Gln429Ter) n.1116C>T c.1153C>T (p.Gln385Ter) c.988C>T (p.Gln330Ter) | |
6 | g.89257783G>C | CA364954706 | GABRR2 | c.1285C>G (p.Gln429Glu) n.1116C>G c.1153C>G (p.Gln385Glu) c.988C>G (p.Gln330Glu) | |
6 | g.89257783G>T | CA364954707 | GABRR2 | c.1285C>A (p.Gln429Lys) n.1116C>A c.1153C>A (p.Gln385Lys) c.988C>A (p.Gln330Lys) | |
6 | g.89257784G>A | CA451348445 | GABRR2 | c.1284C>T (p.Gly428=) n.1115C>T c.1152C>T (p.Gly384=) c.987C>T (p.Gly329=) | COSMIC COSMIC |
6 | g.89257784G>C | CA451348446 | GABRR2 | c.1284C>G (p.Gly428=) n.1115C>G c.1152C>G (p.Gly384=) c.987C>G (p.Gly329=) | |
6 | g.89257784G>T | CA451348447 | GABRR2 | c.1284C>A (p.Gly428=) n.1115C>A c.1152C>A (p.Gly384=) c.987C>A (p.Gly329=) | |
6 | g.89257785C>A | CA364954709 | GABRR2 | c.1283G>T (p.Gly428Val) n.1114G>T c.1151G>T (p.Gly384Val) c.986G>T (p.Gly329Val) | |
6 | g.89257785C= | CA1645371257 | GABRR2 | c.1283G= (p.Gly428=) n.1114G= c.1151G= (p.Gly384=) c.986G= (p.Gly329=) | |
6 | g.89257785C>G | CA142928592 | GABRR2 | c.1283G>C (p.Gly428Ala) n.1114G>C c.1151G>C (p.Gly384Ala) c.986G>C (p.Gly329Ala) | dbSNP |
6 | g.89257785C>T | CA364954708 | GABRR2 | c.1283G>A (p.Gly428Asp) n.1114G>A c.1151G>A (p.Gly384Asp) c.986G>A (p.Gly329Asp) | |
6 | g.89257786C>A | CA364954710 | GABRR2 | c.1282G>T (p.Gly428Cys) n.1113G>T c.1150G>T (p.Gly384Cys) c.985G>T (p.Gly329Cys) | |
6 | g.89257786C>G | CA364954711 | GABRR2 | c.1282G>C (p.Gly428Arg) n.1113G>C c.1150G>C (p.Gly384Arg) c.985G>C (p.Gly329Arg) | |
6 | g.89257786C>T | CA364954712 | GABRR2 | c.1282G>A (p.Gly428Ser) n.1113G>A c.1150G>A (p.Gly384Ser) c.985G>A (p.Gly329Ser) | |
6 | g.89257787C>A | CA364954713 | GABRR2 | c.1281G>T (p.Lys427Asn) n.1112G>T c.1149G>T (p.Lys383Asn) c.984G>T (p.Lys328Asn) | |
6 | g.89257787C>G | CA364954714 | GABRR2 | c.1281G>C (p.Lys427Asn) n.1112G>C c.1149G>C (p.Lys383Asn) c.984G>C (p.Lys328Asn) | |
6 | g.89257787C>T | CA451348453 | GABRR2 | c.1281G>A (p.Lys427=) n.1112G>A c.1149G>A (p.Lys383=) c.984G>A (p.Lys328=) | |
6 | g.89257788T>A | CA364954715 | GABRR2 | c.1280A>T (p.Lys427Met) n.1111A>T c.1148A>T (p.Lys383Met) c.983A>T (p.Lys328Met) | |
6 | g.89257788T>C | CA364954716 | GABRR2 | c.1280A>G (p.Lys427Arg) n.1111A>G c.1148A>G (p.Lys383Arg) c.983A>G (p.Lys328Arg) | |
6 | g.89257788T>G | CA364954717 | GABRR2 | c.1280A>C (p.Lys427Thr) n.1111A>C c.1148A>C (p.Lys383Thr) c.983A>C (p.Lys328Thr) | |
6 | g.89257789T>A | CA364954718 | GABRR2 | c.1279A>T (p.Lys427Ter) n.1110A>T c.1147A>T (p.Lys383Ter) c.982A>T (p.Lys328Ter) | |
6 | g.89257789T>C | CA364954719 | GABRR2 | c.1279A>G (p.Lys427Glu) n.1110A>G c.1147A>G (p.Lys383Glu) c.982A>G (p.Lys328Glu) | |
6 | g.89257789T>G | CA364954720 | GABRR2 | c.1279A>C (p.Lys427Gln) n.1110A>C c.1147A>C (p.Lys383Gln) c.982A>C (p.Lys328Gln) | |
6 | g.89257790C>A | CA451348466 | GABRR2 | c.1278G>T (p.Leu426=) n.1109G>T c.1146G>T (p.Leu382=) c.981G>T (p.Leu327=) | |
6 | g.89257790C= | CA1645371258 | GABRR2 | c.1278G= (p.Leu426=) n.1109G= c.1146G= (p.Leu382=) c.981G= (p.Leu327=) | |
6 | g.89257790C>G | CA451348467 | GABRR2 | c.1278G>C (p.Leu426=) n.1109G>C c.1146G>C (p.Leu382=) c.981G>C (p.Leu327=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.89257790C>T | CA451348468 | GABRR2 | c.1278G>A (p.Leu426=) n.1109G>A c.1146G>A (p.Leu382=) c.981G>A (p.Leu327=) | |
6 | g.89257791A>C | CA364954721 | GABRR2 | c.1277T>G (p.Leu426Arg) n.1108T>G c.1145T>G (p.Leu382Arg) c.980T>G (p.Leu327Arg) | |
6 | g.89257791A>G | CA364954722 | GABRR2 | c.1277T>C (p.Leu426Pro) n.1108T>C c.1145T>C (p.Leu382Pro) c.980T>C (p.Leu327Pro) | |
6 | g.89257791A>T | CA364954723 | GABRR2 | c.1277T>A (p.Leu426Gln) n.1108T>A c.1145T>A (p.Leu382Gln) c.980T>A (p.Leu327Gln) | |
6 | g.89257792G>A | CA451348474 | GABRR2 | c.1276C>T (p.Leu426=) n.1107C>T c.1144C>T (p.Leu382=) c.979C>T (p.Leu327=) | COSMIC COSMIC |
6 | g.89257792G>C | CA364954724 | GABRR2 | c.1276C>G (p.Leu426Val) n.1107C>G c.1144C>G (p.Leu382Val) c.979C>G (p.Leu327Val) | |
6 | g.89257792G>T | CA364954725 | GABRR2 | c.1276C>A (p.Leu426Met) n.1107C>A c.1144C>A (p.Leu382Met) c.979C>A (p.Leu327Met) | |
6 | g.89257793A>C | CA451348475 | GABRR2 | c.1275T>G (p.Leu425=) n.1106T>G c.1143T>G (p.Leu381=) c.978T>G (p.Leu326=) | |
6 | g.89257793A>G | CA451348478 | GABRR2 | c.1275T>C (p.Leu425=) n.1106T>C c.1143T>C (p.Leu381=) c.978T>C (p.Leu326=) | |
6 | g.89257793A>T | CA451348479 | GABRR2 | c.1275T>A (p.Leu425=) n.1106T>A c.1143T>A (p.Leu381=) c.978T>A (p.Leu326=) | |
6 | g.89257794A>C | CA364954726 | GABRR2 | c.1274T>G (p.Leu425Arg) n.1105T>G c.1142T>G (p.Leu381Arg) c.977T>G (p.Leu326Arg) | |
6 | g.89257794A>G | CA364954727 | GABRR2 | c.1274T>C (p.Leu425Pro) n.1105T>C c.1142T>C (p.Leu381Pro) c.977T>C (p.Leu326Pro) | |
6 | g.89257794A>T | CA364954728 | GABRR2 | c.1274T>A (p.Leu425His) n.1105T>A c.1142T>A (p.Leu381His) c.977T>A (p.Leu326His) | |
6 | g.89257795G>A | CA364954729 | GABRR2 | c.1273C>T (p.Leu425Phe) n.1104C>T c.1141C>T (p.Leu381Phe) c.976C>T (p.Leu326Phe) | gnomAD v4 |
6 | g.89257795G>C | CA364954730 | GABRR2 | c.1273C>G (p.Leu425Val) n.1104C>G c.1141C>G (p.Leu381Val) c.976C>G (p.Leu326Val) | |
6 | g.89257795G>T | CA364954731 | GABRR2 | c.1273C>A (p.Leu425Ile) n.1104C>A c.1141C>A (p.Leu381Ile) c.976C>A (p.Leu326Ile) | |
6 | g.89257796C>A | CA451348493 | GABRR2 | c.1272G>T (p.Gly424=) n.1103G>T c.1140G>T (p.Gly380=) c.975G>T (p.Gly325=) | |
6 | g.89257796C>G | CA451348494 | GABRR2 | c.1272G>C (p.Gly424=) n.1103G>C c.1140G>C (p.Gly380=) c.975G>C (p.Gly325=) | |
6 | g.89257796C>T | CA451348495 | GABRR2 | c.1272G>A (p.Gly424=) n.1103G>A c.1140G>A (p.Gly380=) c.975G>A (p.Gly325=) | |
6 | g.89257797C>A | CA364954732 | GABRR2 | c.1271G>T (p.Gly424Val) n.1102G>T c.1139G>T (p.Gly380Val) c.974G>T (p.Gly325Val) | COSMIC COSMIC |
6 | g.89257797C= | CA1645371259 | GABRR2 | c.1271G= (p.Gly424=) n.1102G= c.1139G= (p.Gly380=) c.974G= (p.Gly325=) | |
6 | g.89257797C>G | CA364954733 | GABRR2 | c.1271G>C (p.Gly424Ala) n.1102G>C c.1139G>C (p.Gly380Ala) c.974G>C (p.Gly325Ala) | |
6 | g.89257797C>T | CA364954734 | GABRR2 | c.1271G>A (p.Gly424Glu) n.1102G>A c.1139G>A (p.Gly380Glu) c.974G>A (p.Gly325Glu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.89257798C>A | CA364954735 | GABRR2 | c.1270G>T (p.Gly424Trp) n.1101G>T c.1138G>T (p.Gly380Trp) c.973G>T (p.Gly325Trp) | |
6 | g.89257798C>G | CA364954736 | GABRR2 | c.1270G>C (p.Gly424Arg) n.1101G>C c.1138G>C (p.Gly380Arg) c.973G>C (p.Gly325Arg) | |
6 | g.89257798C>T | CA364954737 | GABRR2 | c.1270G>A (p.Gly424Arg) n.1101G>A c.1138G>A (p.Gly380Arg) c.973G>A (p.Gly325Arg) | |
6 | g.89257799C>A | CA364954738 | GABRR2 | c.1269G>T (p.Lys423Asn) n.1100G>T c.1137G>T (p.Lys379Asn) c.972G>T (p.Lys324Asn) | |
6 | g.89257799C= | CA1645371260 | GABRR2 | c.1269G= (p.Lys423=) n.1100G= c.1137G= (p.Lys379=) c.972G= (p.Lys324=) | |
6 | g.89257799C>G | CA364954739 | GABRR2 | c.1269G>C (p.Lys423Asn) n.1100G>C c.1137G>C (p.Lys379Asn) c.972G>C (p.Lys324Asn) | |
6 | g.89257799C>T | CA451348501 | GABRR2 | c.1269G>A (p.Lys423=) n.1100G>A c.1137G>A (p.Lys379=) c.972G>A (p.Lys324=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.89257800T>A | CA364954740 | GABRR2 | c.1268A>T (p.Lys423Met) n.1099A>T c.1136A>T (p.Lys379Met) c.971A>T (p.Lys324Met) | |
6 | g.89257800T>C | CA364954742 | GABRR2 | c.1268A>G (p.Lys423Arg) n.1099A>G c.1136A>G (p.Lys379Arg) c.971A>G (p.Lys324Arg) | |
6 | g.89257800T>G | CA364954741 | GABRR2 | c.1268A>C (p.Lys423Thr) n.1099A>C c.1136A>C (p.Lys379Thr) c.971A>C (p.Lys324Thr) | |
6 | g.89257801T>A | CA364954743 | GABRR2 | c.1267A>T (p.Lys423Ter) n.1098A>T c.1135A>T (p.Lys379Ter) c.970A>T (p.Lys324Ter) | |
6 | g.89257801T>C | CA364954744 | GABRR2 | c.1267A>G (p.Lys423Glu) n.1098A>G c.1135A>G (p.Lys379Glu) c.970A>G (p.Lys324Glu) | |
6 | g.89257801T>G | CA364954745 | GABRR2 | c.1267A>C (p.Lys423Gln) n.1098A>C c.1135A>C (p.Lys379Gln) c.970A>C (p.Lys324Gln) | |
6 | g.89257802C>A | CA364954746 | GABRR2 | c.1266G>T (p.Lys422Asn) n.1097G>T c.1134G>T (p.Lys378Asn) c.969G>T (p.Lys323Asn) | |
6 | g.89257802C>G | CA364954747 | GABRR2 | c.1266G>C (p.Lys422Asn) n.1097G>C c.1134G>C (p.Lys378Asn) c.969G>C (p.Lys323Asn) | |
6 | g.89257802C>T | CA451348508 | GABRR2 | c.1266G>A (p.Lys422=) n.1097G>A c.1134G>A (p.Lys378=) c.969G>A (p.Lys323=) | |
6 | g.89257802_89257803delinsCT | CA1645371261 | GABRR2 | c.1265_1266delinsAG (p.Lys422=) n.1096_1097delinsAG c.1133_1134delinsAG (p.Lys378=) c.968_969delinsAG (p.Lys323=) | |
6 | g.89257803T>A | CA364954748 | GABRR2 | c.1265A>T (p.Lys422Met) n.1096A>T c.1133A>T (p.Lys378Met) c.968A>T (p.Lys323Met) | |
6 | g.89257803T>C | CA364954749 | GABRR2 | c.1265A>G (p.Lys422Arg) n.1096A>G c.1133A>G (p.Lys378Arg) c.968A>G (p.Lys323Arg) | |
6 | g.89257803T>G | CA364954750 | GABRR2 | c.1265A>C (p.Lys422Thr) n.1096A>C c.1133A>C (p.Lys378Thr) c.968A>C (p.Lys323Thr) | |
6 | g.89257805del | CA3920051 | GABRR2 | c.1265del (p.Lys422ArgfsTer5) n.1096del c.1133del (p.Lys378ArgfsTer5) c.968del (p.Lys323ArgfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.89257804T>A | CA364954751 | GABRR2 | c.1264A>T (p.Lys422Ter) n.1095A>T c.1132A>T (p.Lys378Ter) c.967A>T (p.Lys323Ter) | |
6 | g.89257804T>C | CA364954752 | GABRR2 | c.1264A>G (p.Lys422Glu) n.1095A>G c.1132A>G (p.Lys378Glu) c.967A>G (p.Lys323Glu) | |
6 | g.89257804T>G | CA364954753 | GABRR2 | c.1264A>C (p.Lys422Gln) n.1095A>C c.1132A>C (p.Lys378Gln) c.967A>C (p.Lys323Gln) | |
6 | g.89257805T>A | CA364954754 | GABRR2 | c.1263A>T (p.Arg421Ser) n.1094A>T c.1131A>T (p.Arg377Ser) c.966A>T (p.Arg322Ser) | |
6 | g.89257805T>C | CA451348513 | GABRR2 | c.1263A>G (p.Arg421=) n.1094A>G c.1131A>G (p.Arg377=) c.966A>G (p.Arg322=) | |
6 | g.89257805T>G | CA364954755 | GABRR2 | c.1263A>C (p.Arg421Ser) n.1094A>C c.1131A>C (p.Arg377Ser) c.966A>C (p.Arg322Ser) | dbSNP |
6 | g.89257805T= | CA1645371262 | GABRR2 | c.1263A= (p.Arg421=) n.1094A= c.1131A= (p.Arg377=) c.966A= (p.Arg322=) | |
6 | g.89257806C>A | CA364954756 | GABRR2 | c.1262G>T (p.Arg421Ile) n.1093G>T c.1130G>T (p.Arg377Ile) c.965G>T (p.Arg322Ile) | |
6 | g.89257806C>G | CA364954757 | GABRR2 | c.1262G>C (p.Arg421Thr) n.1093G>C c.1130G>C (p.Arg377Thr) c.965G>C (p.Arg322Thr) | |
6 | g.89257806C>T | CA364954758 | GABRR2 | c.1262G>A (p.Arg421Lys) n.1093G>A c.1130G>A (p.Arg377Lys) c.965G>A (p.Arg322Lys) | |
6 | g.89257807T>A | CA364954759 | GABRR2 | c.1261A>T (p.Arg421Ter) n.1092A>T c.1129A>T (p.Arg377Ter) c.964A>T (p.Arg322Ter) | |
6 | g.89257807T>C | CA364954760 | GABRR2 | c.1261A>G (p.Arg421Gly) n.1092A>G c.1129A>G (p.Arg377Gly) c.964A>G (p.Arg322Gly) | |
6 | g.89257807T>G | CA451348516 | GABRR2 | c.1261A>C (p.Arg421=) n.1092A>C c.1129A>C (p.Arg377=) c.964A>C (p.Arg322=) | |
6 | g.89257808G>A | CA451348519 | GABRR2 | c.1260C>T (p.Ala420=) n.1091C>T c.1128C>T (p.Ala376=) c.963C>T (p.Ala321=) | gnomAD v4 |
6 | g.89257808G>C | CA451348521 | GABRR2 | c.1260C>G (p.Ala420=) n.1091C>G c.1128C>G (p.Ala376=) c.963C>G (p.Ala321=) | |
6 | g.89257808G>T | CA451348522 | GABRR2 | c.1260C>A (p.Ala420=) n.1091C>A c.1128C>A (p.Ala376=) c.963C>A (p.Ala321=) | |
6 | g.89257809G>A | CA364954761 | GABRR2 | c.1259C>T (p.Ala420Val) n.1090C>T c.1127C>T (p.Ala376Val) c.962C>T (p.Ala321Val) | |
6 | g.89257809G>C | CA364954762 | GABRR2 | c.1259C>G (p.Ala420Gly) n.1090C>G c.1127C>G (p.Ala376Gly) c.962C>G (p.Ala321Gly) | |
6 | g.89257809G= | CA1645371263 | GABRR2 | c.1259C= (p.Ala420=) n.1090C= c.1127C= (p.Ala376=) c.962C= (p.Ala321=) | |
6 | g.89257809G>T | CA364954763 | GABRR2 | c.1259C>A (p.Ala420Asp) n.1090C>A c.1127C>A (p.Ala376Asp) c.962C>A (p.Ala321Asp) | dbSNP |
6 | g.89257810C>A | CA364954764 | GABRR2 | c.1258G>T (p.Ala420Ser) n.1089G>T c.1126G>T (p.Ala376Ser) c.961G>T (p.Ala321Ser) | |
6 | g.89257810C= | CA1645371264 | GABRR2 | c.1258G= (p.Ala420=) n.1089G= c.1126G= (p.Ala376=) c.961G= (p.Ala321=) | |
6 | g.89257810C>G | CA364954765 | GABRR2 | c.1258G>C (p.Ala420Pro) n.1089G>C c.1126G>C (p.Ala376Pro) c.961G>C (p.Ala321Pro) | |
6 | g.89257810C>T | CA3920052 | GABRR2 | c.1258G>A (p.Ala420Thr) n.1089G>A c.1126G>A (p.Ala376Thr) c.961G>A (p.Ala321Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.89257813_89257876dup | CA1091640890 | GABRR2 | c.1195_1258dup (p.Ala420AspfsTer18) n.1026_1089dup c.1063_1126dup (p.Ala376AspfsTer18) c.898_961dup (p.Ala321AspfsTer18) | gnomAD v3 gnomAD v4 |
6 | g.89257811A>C | CA451348531 | GABRR2 | c.1257T>G (p.Ala419=) n.1088T>G c.1125T>G (p.Ala375=) c.960T>G (p.Ala320=) | |
6 | g.89257811A>G | CA451348533 | GABRR2 | c.1257T>C (p.Ala419=) n.1088T>C c.1125T>C (p.Ala375=) c.960T>C (p.Ala320=) | |
6 | g.89257811A>T | CA451348532 | GABRR2 | c.1257T>A (p.Ala419=) n.1088T>A c.1125T>A (p.Ala375=) c.960T>A (p.Ala320=) | |
6 | g.89257812G>A | CA364954767 | GABRR2 | c.1256C>T (p.Ala419Val) n.1087C>T c.1124C>T (p.Ala375Val) c.959C>T (p.Ala320Val) | |
6 | g.89257812G>C | CA364954768 | GABRR2 | c.1256C>G (p.Ala419Gly) n.1087C>G c.1124C>G (p.Ala375Gly) c.959C>G (p.Ala320Gly) | |
6 | g.89257812G>T | CA364954766 | GABRR2 | c.1256C>A (p.Ala419Asp) n.1087C>A c.1124C>A (p.Ala375Asp) c.959C>A (p.Ala320Asp) | |
6 | g.89257813C>A | CA364954769 | GABRR2 | c.1255G>T (p.Ala419Ser) n.1086G>T c.1123G>T (p.Ala375Ser) c.958G>T (p.Ala320Ser) | |
6 | g.89257813C= | CA1645371265 | GABRR2 | c.1255G= (p.Ala419=) n.1086G= c.1123G= (p.Ala375=) c.958G= (p.Ala320=) | |
6 | g.89257813C>G | CA364954770 | GABRR2 | c.1255G>C (p.Ala419Pro) n.1086G>C c.1123G>C (p.Ala375Pro) c.958G>C (p.Ala320Pro) | |
6 | g.89257813C>T | CA3920053 | GABRR2 | c.1255G>A (p.Ala419Thr) n.1086G>A c.1123G>A (p.Ala375Thr) c.958G>A (p.Ala320Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.89257814G>A | CA3920054 | GABRR2 | c.1254C>T (p.Asn418=) n.1085C>T c.1122C>T (p.Asn374=) c.957C>T (p.Asn319=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.89257814G>C | CA364954771 | GABRR2 | c.1254C>G (p.Asn418Lys) n.1085C>G c.1122C>G (p.Asn374Lys) c.957C>G (p.Asn319Lys) | |
6 | g.89257814G= | CA1645371266 | GABRR2 | c.1254C= (p.Asn418=) n.1085C= c.1122C= (p.Asn374=) c.957C= (p.Asn319=) | |
6 | g.89257814G>T | CA364954772 | GABRR2 | c.1254C>A (p.Asn418Lys) n.1085C>A c.1122C>A (p.Asn374Lys) c.957C>A (p.Asn319Lys) | |
6 | g.89257815T>A | CA364954773 | GABRR2 | c.1253A>T (p.Asn418Ile) n.1084A>T c.1121A>T (p.Asn374Ile) c.956A>T (p.Asn319Ile) | |
6 | g.89257815T>C | CA142928631 | GABRR2 | c.1253A>G (p.Asn418Ser) n.1084A>G c.1121A>G (p.Asn374Ser) c.956A>G (p.Asn319Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.89257815T>G | CA364954774 | GABRR2 | c.1253A>C (p.Asn418Thr) n.1084A>C c.1121A>C (p.Asn374Thr) c.956A>C (p.Asn319Thr) | |
6 | g.89257815T= | CA1645371267 | GABRR2 | c.1253A= (p.Asn418=) n.1084A= c.1121A= (p.Asn374=) c.956A= (p.Asn319=) | |
6 | g.89257816T>A | CA364954775 | GABRR2 | c.1252A>T (p.Asn418Tyr) n.1083A>T c.1120A>T (p.Asn374Tyr) c.955A>T (p.Asn319Tyr) | |
6 | g.89257816T>C | CA364954776 | GABRR2 | c.1252A>G (p.Asn418Asp) n.1083A>G c.1120A>G (p.Asn374Asp) c.955A>G (p.Asn319Asp) | |
6 | g.89257816T>G | CA364954777 | GABRR2 | c.1252A>C (p.Asn418His) n.1083A>C c.1120A>C (p.Asn374His) c.955A>C (p.Asn319His) | |
6 | g.89257817G>A | CA451348542 | GABRR2 | c.1251C>T (p.Ala417=) n.1082C>T c.1119C>T (p.Ala373=) c.954C>T (p.Ala318=) | gnomAD v4 |
6 | g.89257817G>C | CA451348544 | GABRR2 | c.1251C>G (p.Ala417=) n.1082C>G c.1119C>G (p.Ala373=) c.954C>G (p.Ala318=) | |
6 | g.89257817G>T | CA451348545 | GABRR2 | c.1251C>A (p.Ala417=) n.1082C>A c.1119C>A (p.Ala373=) c.954C>A (p.Ala318=) | |
6 | g.89257818G>A | CA364954779 | GABRR2 | c.1250C>T (p.Ala417Val) n.1081C>T c.1118C>T (p.Ala373Val) c.953C>T (p.Ala318Val) | gnomAD v4 COSMIC COSMIC |
6 | g.89257818G>C | CA364954780 | GABRR2 | c.1250C>G (p.Ala417Gly) n.1081C>G c.1118C>G (p.Ala373Gly) c.953C>G (p.Ala318Gly) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.89257818G= | CA1645371268 | GABRR2 | c.1250C= (p.Ala417=) n.1081C= c.1118C= (p.Ala373=) c.953C= (p.Ala318=) | |
6 | g.89257818G>T | CA364954778 | GABRR2 | c.1250C>A (p.Ala417Asp) n.1081C>A c.1118C>A (p.Ala373Asp) c.953C>A (p.Ala318Asp) | |
6 | g.89257819C>A | CA364954781 | GABRR2 | c.1249G>T (p.Ala417Ser) n.1080G>T c.1117G>T (p.Ala373Ser) c.952G>T (p.Ala318Ser) | |
6 | g.89257819C>G | CA364954782 | GABRR2 | c.1249G>C (p.Ala417Pro) n.1080G>C c.1117G>C (p.Ala373Pro) c.952G>C (p.Ala318Pro) | |
6 | g.89257819C>T | CA364954783 | GABRR2 | c.1249G>A (p.Ala417Thr) n.1080G>A c.1117G>A (p.Ala373Thr) c.952G>A (p.Ala318Thr) | |
6 | g.89257820T>A | CA364954784 | GABRR2 | c.1248A>T (p.Glu416Asp) n.1079A>T c.1116A>T (p.Glu372Asp) c.951A>T (p.Glu317Asp) | |
6 | g.89257820T>C | CA451348553 | GABRR2 | c.1248A>G (p.Glu416=) n.1079A>G c.1116A>G (p.Glu372=) c.951A>G (p.Glu317=) | |
6 | g.89257820T>G | CA364954785 | GABRR2 | c.1248A>C (p.Glu416Asp) n.1079A>C c.1116A>C (p.Glu372Asp) c.951A>C (p.Glu317Asp) | |
6 | g.89257821T>A | CA364954788 | GABRR2 | c.1247A>T (p.Glu416Val) n.1078A>T c.1115A>T (p.Glu372Val) c.950A>T (p.Glu317Val) | |
6 | g.89257821T>C | CA364954787 | GABRR2 | c.1247A>G (p.Glu416Gly) n.1078A>G c.1115A>G (p.Glu372Gly) c.950A>G (p.Glu317Gly) | |
6 | g.89257821T>G | CA364954786 | GABRR2 | c.1247A>C (p.Glu416Ala) n.1078A>C c.1115A>C (p.Glu372Ala) c.950A>C (p.Glu317Ala) | |
6 | g.89257822C>A | CA364954789 | GABRR2 | c.1246G>T (p.Glu416Ter) n.1077G>T c.1114G>T (p.Glu372Ter) c.949G>T (p.Glu317Ter) | |
6 | g.89257822C= | CA1645371269 | GABRR2 | c.1246G= (p.Glu416=) n.1077G= c.1114G= (p.Glu372=) c.949G= (p.Glu317=) | |
6 | g.89257822C>G | CA364954790 | GABRR2 | c.1246G>C (p.Glu416Gln) n.1077G>C c.1114G>C (p.Glu372Gln) c.949G>C (p.Glu317Gln) | |
6 | g.89257822C>T | CA3920055 | GABRR2 | c.1246G>A (p.Glu416Lys) n.1077G>A c.1114G>A (p.Glu372Lys) c.949G>A (p.Glu317Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.89257823A= | CA1645371270 | GABRR2 | c.1245T= (p.Gly415=) n.1076T= c.1113T= (p.Gly371=) c.948T= (p.Gly316=) | |
6 | g.89257823A>C | CA451348557 | GABRR2 | c.1245T>G (p.Gly415=) n.1076T>G c.1113T>G (p.Gly371=) c.948T>G (p.Gly316=) | |
6 | g.89257823A>G | CA451348559 | GABRR2 | c.1245T>C (p.Gly415=) n.1076T>C c.1113T>C (p.Gly371=) c.948T>C (p.Gly316=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.89257823A>T | CA451348560 | GABRR2 | c.1245T>A (p.Gly415=) n.1076T>A c.1113T>A (p.Gly371=) c.948T>A (p.Gly316=) | |
6 | g.89257824C>A | CA364954791 | GABRR2 | c.1244G>T (p.Gly415Val) n.1075G>T c.1112G>T (p.Gly371Val) c.947G>T (p.Gly316Val) | |
6 | g.89257824C>G | CA364954792 | GABRR2 | c.1244G>C (p.Gly415Ala) n.1075G>C c.1112G>C (p.Gly371Ala) c.947G>C (p.Gly316Ala) | |
6 | g.89257824C>T | CA364954793 | GABRR2 | c.1244G>A (p.Gly415Asp) n.1075G>A c.1112G>A (p.Gly371Asp) c.947G>A (p.Gly316Asp) | gnomAD v4 |
6 | g.89257825C>A | CA364954794 | GABRR2 | c.1243G>T (p.Gly415Cys) n.1074G>T c.1111G>T (p.Gly371Cys) c.946G>T (p.Gly316Cys) | |
6 | g.89257825C>G | CA364954796 | GABRR2 | c.1243G>C (p.Gly415Arg) n.1074G>C c.1111G>C (p.Gly371Arg) c.946G>C (p.Gly316Arg) | |
6 | g.89257825C>T | CA364954795 | GABRR2 | c.1243G>A (p.Gly415Ser) n.1074G>A c.1111G>A (p.Gly371Ser) c.946G>A (p.Gly316Ser) | |
6 | g.89257826A>C | CA364954797 | GABRR2 | c.1242T>G (p.Ser414Arg) n.1073T>G c.1110T>G (p.Ser370Arg) c.945T>G (p.Ser315Arg) | |
6 | g.89257826A>G | CA451348573 | GABRR2 | c.1242T>C (p.Ser414=) n.1073T>C c.1110T>C (p.Ser370=) c.945T>C (p.Ser315=) | |
6 | g.89257826A>T | CA364954798 | GABRR2 | c.1242T>A (p.Ser414Arg) n.1073T>A c.1110T>A (p.Ser370Arg) c.945T>A (p.Ser315Arg) | |
6 | g.89257827C>A | CA364954799 | GABRR2 | c.1241G>T (p.Ser414Ile) n.1072G>T c.1109G>T (p.Ser370Ile) c.944G>T (p.Ser315Ile) | |
6 | g.89257827C>G | CA364954800 | GABRR2 | c.1241G>C (p.Ser414Thr) n.1072G>C c.1109G>C (p.Ser370Thr) c.944G>C (p.Ser315Thr) | |
6 | g.89257827C>T | CA364954801 | GABRR2 | c.1241G>A (p.Ser414Asn) n.1072G>A c.1109G>A (p.Ser370Asn) c.944G>A (p.Ser315Asn) | |
6 | g.89257828T>A | CA364954802 | GABRR2 | c.1240A>T (p.Ser414Cys) n.1071A>T c.1108A>T (p.Ser370Cys) c.943A>T (p.Ser315Cys) | |
6 | g.89257828T>C | CA364954803 | GABRR2 | c.1240A>G (p.Ser414Gly) n.1071A>G c.1108A>G (p.Ser370Gly) c.943A>G (p.Ser315Gly) | |
6 | g.89257828T>G | CA364954804 | GABRR2 | c.1240A>C (p.Ser414Arg) n.1071A>C c.1108A>C (p.Ser370Arg) c.943A>C (p.Ser315Arg) | gnomAD v4 |
6 | g.89257829C>A | CA451348582 | GABRR2 | c.1239G>T (p.Leu413=) n.1070G>T c.1107G>T (p.Leu369=) c.942G>T (p.Leu314=) | |
6 | g.89257829C>G | CA451348583 | GABRR2 | c.1239G>C (p.Leu413=) n.1070G>C c.1107G>C (p.Leu369=) c.942G>C (p.Leu314=) | |
6 | g.89257829C>T | CA451348584 | GABRR2 | c.1239G>A (p.Leu413=) n.1070G>A c.1107G>A (p.Leu369=) c.942G>A (p.Leu314=) | gnomAD v4 |
6 | g.89257830A= | CA1645371271 | GABRR2 | c.1238T= (p.Leu413=) n.1069T= c.1106T= (p.Leu369=) c.941T= (p.Leu314=) | |
6 | g.89257830A>C | CA364954806 | GABRR2 | c.1238T>G (p.Leu413Arg) n.1069T>G c.1106T>G (p.Leu369Arg) c.941T>G (p.Leu314Arg) | |
6 | g.89257830A>G | CA142928639 | GABRR2 | c.1238T>C (p.Leu413Pro) n.1069T>C c.1106T>C (p.Leu369Pro) c.941T>C (p.Leu314Pro) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.89257830A>T | CA364954805 | GABRR2 | c.1238T>A (p.Leu413Gln) n.1069T>A c.1106T>A (p.Leu369Gln) c.941T>A (p.Leu314Gln) | |
6 | g.89257831G>A | CA451348591 | GABRR2 | c.1237C>T (p.Leu413=) n.1068C>T c.1105C>T (p.Leu369=) c.940C>T (p.Leu314=) | |
6 | g.89257831G>C | CA364954807 | GABRR2 | c.1237C>G (p.Leu413Val) n.1068C>G c.1105C>G (p.Leu369Val) c.940C>G (p.Leu314Val) | |
6 | g.89257831G>T | CA364954808 | GABRR2 | c.1237C>A (p.Leu413Met) n.1068C>A c.1105C>A (p.Leu369Met) c.940C>A (p.Leu314Met) | |
6 | g.89257832G>A | CA451348592 | GABRR2 | c.1236C>T (p.Gly412=) n.1067C>T c.1104C>T (p.Gly368=) c.939C>T (p.Gly313=) | |
6 | g.89257832G>C | CA451348597 | GABRR2 | c.1236C>G (p.Gly412=) n.1067C>G c.1104C>G (p.Gly368=) c.939C>G (p.Gly313=) | |
6 | g.89257832G>T | CA451348594 | GABRR2 | c.1236C>A (p.Gly412=) n.1067C>A c.1104C>A (p.Gly368=) c.939C>A (p.Gly313=) | |
6 | g.89257833C>A | CA364954809 | GABRR2 | c.1235G>T (p.Gly412Val) n.1066G>T c.1103G>T (p.Gly368Val) c.938G>T (p.Gly313Val) | gnomAD v4 |
6 | g.89257833C= | CA1645371272 | GABRR2 | c.1235G= (p.Gly412=) n.1066G= c.1103G= (p.Gly368=) c.938G= (p.Gly313=) | |
6 | g.89257833C>G | CA364954810 | GABRR2 | c.1235G>C (p.Gly412Ala) n.1066G>C c.1103G>C (p.Gly368Ala) c.938G>C (p.Gly313Ala) | |
6 | g.89257833C>T | CA364954811 | GABRR2 | c.1235G>A (p.Gly412Asp) n.1066G>A c.1103G>A (p.Gly368Asp) c.938G>A (p.Gly313Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.89257834C>A | CA364954814 | GABRR2 | c.1234G>T (p.Gly412Cys) n.1065G>T c.1102G>T (p.Gly368Cys) c.937G>T (p.Gly313Cys) | |
6 | g.89257834C= | CA1645371273 | GABRR2 | c.1234G= (p.Gly412=) n.1065G= c.1102G= (p.Gly368=) c.937G= (p.Gly313=) | |
6 | g.89257834C>G | CA364954812 | GABRR2 | c.1234G>C (p.Gly412Arg) n.1065G>C c.1102G>C (p.Gly368Arg) c.937G>C (p.Gly313Arg) | |
6 | g.89257834C>T | CA364954813 | GABRR2 | c.1234G>A (p.Gly412Ser) n.1065G>A c.1102G>A (p.Gly368Ser) c.937G>A (p.Gly313Ser) | |
6 | g.89257834_89257835insATTGACAAATA | CA1645371274 | GABRR2 | c.1233_1234insTATTTGTCAAT (p.Gly412TyrfsTer6) n.1064_1065insTATTTGTCAAT c.1101_1102insTATTTGTCAAT (p.Gly368TyrfsTer6) c.936_937insTATTTGTCAAT (p.Gly313TyrfsTer6) | dbSNP |
6 | g.89257835C>A | CA451348603 | GABRR2 | c.1233G>T (p.Leu411=) n.1064G>T c.1101G>T (p.Leu367=) c.936G>T (p.Leu312=) | |
6 | g.89257835C= | CA1645371275 | GABRR2 | c.1233G= (p.Leu411=) n.1064G= c.1101G= (p.Leu367=) c.936G= (p.Leu312=) | |
6 | g.89257835C>G | CA451348604 | GABRR2 | c.1233G>C (p.Leu411=) n.1064G>C c.1101G>C (p.Leu367=) c.936G>C (p.Leu312=) | |
6 | g.89257835C>T | CA451348606 | GABRR2 | c.1233G>A (p.Leu411=) n.1064G>A c.1101G>A (p.Leu367=) c.936G>A (p.Leu312=) | dbSNP gnomAD v2 |
6 | g.89257836A>C | CA364954815 | GABRR2 | c.1232T>G (p.Leu411Arg) n.1063T>G c.1100T>G (p.Leu367Arg) c.935T>G (p.Leu312Arg) | |
6 | g.89257836A>G | CA364954816 | GABRR2 | c.1232T>C (p.Leu411Pro) n.1063T>C c.1100T>C (p.Leu367Pro) c.935T>C (p.Leu312Pro) | gnomAD v4 |
6 | g.89257836A>T | CA364954817 | GABRR2 | c.1232T>A (p.Leu411Gln) n.1063T>A c.1100T>A (p.Leu367Gln) c.935T>A (p.Leu312Gln) | |
6 | g.89257837G>A | CA451348612 | GABRR2 | c.1231C>T (p.Leu411=) n.1062C>T c.1099C>T (p.Leu367=) c.934C>T (p.Leu312=) | |
6 | g.89257837G>C | CA364954818 | GABRR2 | c.1231C>G (p.Leu411Val) n.1062C>G c.1099C>G (p.Leu367Val) c.934C>G (p.Leu312Val) | |
6 | g.89257837G>T | CA364954819 | GABRR2 | c.1231C>A (p.Leu411Met) n.1062C>A c.1099C>A (p.Leu367Met) c.934C>A (p.Leu312Met) | |
6 | g.89257838G>A | CA451348613 | GABRR2 | c.1230C>T (p.His410=) n.1061C>T c.1098C>T (p.His366=) c.933C>T (p.His311=) | |
6 | g.89257838G>C | CA364954820 | GABRR2 | c.1230C>G (p.His410Gln) n.1061C>G c.1098C>G (p.His366Gln) c.933C>G (p.His311Gln) | |
6 | g.89257838G>T | CA364954821 | GABRR2 | c.1230C>A (p.His410Gln) n.1061C>A c.1098C>A (p.His366Gln) c.933C>A (p.His311Gln) | |
6 | g.89257839T>A | CA364954822 | GABRR2 | c.1229A>T (p.His410Leu) n.1060A>T c.1097A>T (p.His366Leu) c.932A>T (p.His311Leu) | gnomAD v4 |
6 | g.89257839T>C | CA364954823 | GABRR2 | c.1229A>G (p.His410Arg) n.1060A>G c.1097A>G (p.His366Arg) c.932A>G (p.His311Arg) | |
6 | g.89257839T>G | CA364954824 | GABRR2 | c.1229A>C (p.His410Pro) n.1060A>C c.1097A>C (p.His366Pro) c.932A>C (p.His311Pro) | dbSNP |
6 | g.89257839T= | CA1645371276 | GABRR2 | c.1229A= (p.His410=) n.1060A= c.1097A= (p.His366=) c.932A= (p.His311=) | |
6 | g.89257840G>A | CA364954825 | GABRR2 | c.1228C>T (p.His410Tyr) n.1059C>T c.1096C>T (p.His366Tyr) c.931C>T (p.His311Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.89257840G>C | CA364954826 | GABRR2 | c.1228C>G (p.His410Asp) n.1059C>G c.1096C>G (p.His366Asp) c.931C>G (p.His311Asp) | |
6 | g.89257840G= | CA1645371277 | GABRR2 | c.1228C= (p.His410=) n.1059C= c.1096C= (p.His366=) c.931C= (p.His311=) | |
6 | g.89257840G>T | CA364954827 | GABRR2 | c.1228C>A (p.His410Asn) n.1059C>A c.1096C>A (p.His366Asn) c.931C>A (p.His311Asn) | |
6 | g.89257841G>A | CA451348621 | GABRR2 | c.1227C>T (p.Val409=) n.1058C>T c.1095C>T (p.Val365=) c.930C>T (p.Val310=) | |
6 | g.89257841G>C | CA451348620 | GABRR2 | c.1227C>G (p.Val409=) n.1058C>G c.1095C>G (p.Val365=) c.930C>G (p.Val310=) | |
6 | g.89257841G>T | CA451348619 | GABRR2 | c.1227C>A (p.Val409=) n.1058C>A c.1095C>A (p.Val365=) c.930C>A (p.Val310=) | |
6 | g.89257842A>C | CA364954830 | GABRR2 | c.1226T>G (p.Val409Gly) n.1057T>G c.1094T>G (p.Val365Gly) c.929T>G (p.Val310Gly) | |
6 | g.89257842A>G | CA364954828 | GABRR2 | c.1226T>C (p.Val409Ala) n.1057T>C c.1094T>C (p.Val365Ala) c.929T>C (p.Val310Ala) | gnomAD v4 |
6 | g.89257842A>T | CA364954829 | GABRR2 | c.1226T>A (p.Val409Asp) n.1057T>A c.1094T>A (p.Val365Asp) c.929T>A (p.Val310Asp) | |
6 | g.89257843C>A | CA364954831 | GABRR2 | c.1225G>T (p.Val409Phe) n.1056G>T c.1093G>T (p.Val365Phe) c.928G>T (p.Val310Phe) | |
6 | g.89257843C= | CA1645371278 | GABRR2 | c.1225G= (p.Val409=) n.1056G= c.1093G= (p.Val365=) c.928G= (p.Val310=) | |
6 | g.89257843C>G | CA364954832 | GABRR2 | c.1225G>C (p.Val409Leu) n.1056G>C c.1093G>C (p.Val365Leu) c.928G>C (p.Val310Leu) | |
6 | g.89257843C>T | CA364954833 | GABRR2 | c.1225G>A (p.Val409Ile) n.1056G>A c.1093G>A (p.Val365Ile) c.928G>A (p.Val310Ile) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.89257844C>A | CA451348628 | GABRR2 | c.1224G>T (p.Val408=) n.1055G>T c.1092G>T (p.Val364=) c.927G>T (p.Val309=) | |
6 | g.89257844C= | CA1645371279 | GABRR2 | c.1224G= (p.Val408=) n.1055G= c.1092G= (p.Val364=) c.927G= (p.Val309=) | |
6 | g.89257844C>G | CA451348629 | GABRR2 | c.1224G>C (p.Val408=) n.1055G>C c.1092G>C (p.Val364=) c.927G>C (p.Val309=) | dbSNP |
6 | g.89257844C>T | CA451348631 | GABRR2 | c.1224G>A (p.Val408=) n.1055G>A c.1092G>A (p.Val364=) c.927G>A (p.Val309=) | |
6 | g.89257845A= | CA1645371280 | GABRR2 | c.1223T= (p.Val408=) n.1054T= c.1091T= (p.Val364=) c.926T= (p.Val309=) | |
6 | g.89257845A>C | CA364954834 | GABRR2 | c.1223T>G (p.Val408Gly) n.1054T>G c.1091T>G (p.Val364Gly) c.926T>G (p.Val309Gly) | |
6 | g.89257845A>G | CA364954835 | GABRR2 | c.1223T>C (p.Val408Ala) n.1054T>C c.1091T>C (p.Val364Ala) c.926T>C (p.Val309Ala) | gnomAD v4 |
6 | g.89257845A>T | CA364954836 | GABRR2 | c.1223T>A (p.Val408Glu) n.1054T>A c.1091T>A (p.Val364Glu) c.926T>A (p.Val309Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.89257846C>A | CA364954837 | GABRR2 | c.1222G>T (p.Val408Leu) n.1053G>T c.1090G>T (p.Val364Leu) c.925G>T (p.Val309Leu) | dbSNP |
6 | g.89257846C= | CA1645371281 | GABRR2 | c.1222G= (p.Val408=) n.1053G= c.1090G= (p.Val364=) c.925G= (p.Val309=) | |
6 | g.89257846C>G | CA364954838 | GABRR2 | c.1222G>C (p.Val408Leu) n.1053G>C c.1090G>C (p.Val364Leu) c.925G>C (p.Val309Leu) | |
6 | g.89257846C>T | CA3920056 | GABRR2 | c.1222G>A (p.Val408Met) n.1053G>A c.1090G>A (p.Val364Met) c.925G>A (p.Val309Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.89257847T>A | CA451348637 | GABRR2 | c.1221A>T (p.Ile407=) n.1052A>T c.1089A>T (p.Ile363=) c.924A>T (p.Ile308=) | |
6 | g.89257847T>C | CA364954839 | GABRR2 | c.1221A>G (p.Ile407Met) n.1052A>G c.1089A>G (p.Ile363Met) c.924A>G (p.Ile308Met) | |
6 | g.89257847T>G | CA451348639 | GABRR2 | c.1221A>C (p.Ile407=) n.1052A>C c.1089A>C (p.Ile363=) c.924A>C (p.Ile308=) | |
6 | g.89257848A= | CA1645371282 | GABRR2 | c.1220T= (p.Ile407=) n.1051T= c.1088T= (p.Ile363=) c.923T= (p.Ile308=) | |
6 | g.89257848A>C | CA364954840 | GABRR2 | c.1220T>G (p.Ile407Arg) n.1051T>G c.1088T>G (p.Ile363Arg) c.923T>G (p.Ile308Arg) | gnomAD v4 |
6 | g.89257848A>G | CA3920057 | GABRR2 | c.1220T>C (p.Ile407Thr) n.1051T>C c.1088T>C (p.Ile363Thr) c.923T>C (p.Ile308Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.89257848A>T | CA364954841 | GABRR2 | c.1220T>A (p.Ile407Lys) n.1051T>A c.1088T>A (p.Ile363Lys) c.923T>A (p.Ile308Lys) | |
6 | g.89257849T>A | CA364954844 | GABRR2 | c.1219A>T (p.Ile407Leu) n.1050A>T c.1087A>T (p.Ile363Leu) c.922A>T (p.Ile308Leu) | |
6 | g.89257849T>C | CA364954843 | GABRR2 | c.1219A>G (p.Ile407Val) n.1050A>G c.1087A>G (p.Ile363Val) c.922A>G (p.Ile308Val) | |
6 | g.89257849T>G | CA364954842 | GABRR2 | c.1219A>C (p.Ile407Leu) n.1050A>C c.1087A>C (p.Ile363Leu) c.922A>C (p.Ile308Leu) | |
6 | g.89257850T>A | CA3920058 | GABRR2 | c.1218A>T (p.Lys406Asn) n.1049A>T c.1086A>T (p.Lys362Asn) c.921A>T (p.Lys307Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.89257850T>C | CA451348647 | GABRR2 | c.1218A>G (p.Lys406=) n.1049A>G c.1086A>G (p.Lys362=) c.921A>G (p.Lys307=) | |
6 | g.89257850T>G | CA364954845 | GABRR2 | c.1218A>C (p.Lys406Asn) n.1049A>C c.1086A>C (p.Lys362Asn) c.921A>C (p.Lys307Asn) | |
6 | g.89257850T= | CA1645371283 | GABRR2 | c.1218A= (p.Lys406=) n.1049A= c.1086A= (p.Lys362=) c.921A= (p.Lys307=) | |
6 | g.89257851T>A | CA364954846 | GABRR2 | c.1217A>T (p.Lys406Ile) n.1048A>T c.1085A>T (p.Lys362Ile) c.920A>T (p.Lys307Ile) | |
6 | g.89257851T>C | CA364954847 | GABRR2 | c.1217A>G (p.Lys406Arg) n.1048A>G c.1085A>G (p.Lys362Arg) c.920A>G (p.Lys307Arg) | |
6 | g.89257851T>G | CA364954848 | GABRR2 | c.1217A>C (p.Lys406Thr) n.1048A>C c.1085A>C (p.Lys362Thr) c.920A>C (p.Lys307Thr) | |
6 | g.89257852T>A | CA364954849 | GABRR2 | c.1216A>T (p.Lys406Ter) n.1047A>T c.1084A>T (p.Lys362Ter) c.919A>T (p.Lys307Ter) | |
6 | g.89257852T>C | CA142928661 | GABRR2 | c.1216A>G (p.Lys406Glu) n.1047A>G c.1084A>G (p.Lys362Glu) c.919A>G (p.Lys307Glu) | dbSNP gnomAD v4 |
6 | g.89257852T>G | CA364954850 | GABRR2 | c.1216A>C (p.Lys406Gln) n.1047A>C c.1084A>C (p.Lys362Gln) c.919A>C (p.Lys307Gln) | |
6 | g.89257852T= | CA1645371284 | GABRR2 | c.1216A= (p.Lys406=) n.1047A= c.1084A= (p.Lys362=) c.919A= (p.Lys307=) | |
6 | g.89257853G>A | CA451348649 | GABRR2 | c.1215C>T (p.Asp405=) n.1046C>T c.1083C>T (p.Asp361=) c.918C>T (p.Asp306=) | |
6 | g.89257853G>C | CA364954851 | GABRR2 | c.1215C>G (p.Asp405Glu) n.1046C>G c.1083C>G (p.Asp361Glu) c.918C>G (p.Asp306Glu) | COSMIC COSMIC |
6 | g.89257853G>T | CA364954852 | GABRR2 | c.1215C>A (p.Asp405Glu) n.1046C>A c.1083C>A (p.Asp361Glu) c.918C>A (p.Asp306Glu) | |
6 | g.89257854T>A | CA364954853 | GABRR2 | c.1214A>T (p.Asp405Val) n.1045A>T c.1082A>T (p.Asp361Val) c.917A>T (p.Asp306Val) | |
6 | g.89257854T>C | CA364954854 | GABRR2 | c.1214A>G (p.Asp405Gly) n.1045A>G c.1082A>G (p.Asp361Gly) c.917A>G (p.Asp306Gly) | |
6 | g.89257854T>G | CA364954855 | GABRR2 | c.1214A>C (p.Asp405Ala) n.1045A>C c.1082A>C (p.Asp361Ala) c.917A>C (p.Asp306Ala) | |
6 | g.89257855C>A | CA364954858 | GABRR2 | c.1213G>T (p.Asp405Tyr) n.1044G>T c.1081G>T (p.Asp361Tyr) c.916G>T (p.Asp306Tyr) | |
6 | g.89257855C>G | CA364954857 | GABRR2 | c.1213G>C (p.Asp405His) n.1044G>C c.1081G>C (p.Asp361His) c.916G>C (p.Asp306His) | |
6 | g.89257855C>T | CA364954856 | GABRR2 | c.1213G>A (p.Asp405Asn) n.1044G>A c.1081G>A (p.Asp361Asn) c.916G>A (p.Asp306Asn) | |
6 | g.89257856T>A | CA364954859 | GABRR2 | c.1212A>T (p.Gln404His) n.1043A>T c.1080A>T (p.Gln360His) c.915A>T (p.Gln305His) | |
6 | g.89257856T>C | CA451348652 | GABRR2 | c.1212A>G (p.Gln404=) n.1043A>G c.1080A>G (p.Gln360=) c.915A>G (p.Gln305=) | |
6 | g.89257856T>G | CA364954860 | GABRR2 | c.1212A>C (p.Gln404His) n.1043A>C c.1080A>C (p.Gln360His) c.915A>C (p.Gln305His) | |
6 | g.89257857T>A | CA364954861 | GABRR2 | c.1211A>T (p.Gln404Leu) n.1042A>T c.1079A>T (p.Gln360Leu) c.914A>T (p.Gln305Leu) | |
6 | g.89257857T>C | CA364954862 | GABRR2 | c.1211A>G (p.Gln404Arg) n.1042A>G c.1079A>G (p.Gln360Arg) c.914A>G (p.Gln305Arg) | gnomAD v4 COSMIC COSMIC |
6 | g.89257857T>G | CA364954863 | GABRR2 | c.1211A>C (p.Gln404Pro) n.1042A>C c.1079A>C (p.Gln360Pro) c.914A>C (p.Gln305Pro) | |
6 | g.89257858G>A | CA364954864 | GABRR2 | c.1210C>T (p.Gln404Ter) n.1041C>T c.1078C>T (p.Gln360Ter) c.913C>T (p.Gln305Ter) | gnomAD v4 |
6 | g.89257858G>C | CA3920059 | GABRR2 | c.1210C>G (p.Gln404Glu) n.1041C>G c.1078C>G (p.Gln360Glu) c.913C>G (p.Gln305Glu) | dbSNP ExAC gnomAD v2 |
6 | g.89257858G= | CA1645371285 | GABRR2 | c.1210C= (p.Gln404=) n.1041C= c.1078C= (p.Gln360=) c.913C= (p.Gln305=) | |
6 | g.89257858G>T | CA364954865 | GABRR2 | c.1210C>A (p.Gln404Lys) n.1041C>A c.1078C>A (p.Gln360Lys) c.913C>A (p.Gln305Lys) | |
6 | g.89257859C>A | CA364954866 | GABRR2 | c.1209G>T (p.Arg403Ser) n.1040G>T c.1077G>T (p.Arg359Ser) c.912G>T (p.Arg304Ser) | |
6 | g.89257859C= | CA1645371287 | GABRR2 | c.1209G= (p.Arg403=) n.1040G= c.1077G= (p.Arg359=) c.912G= (p.Arg304=) | |
6 | g.89257859C>G | CA364954867 | GABRR2 | c.1209G>C (p.Arg403Ser) n.1040G>C c.1077G>C (p.Arg359Ser) c.912G>C (p.Arg304Ser) | |
6 | g.89257859C>T | CA451348659 | GABRR2 | c.1209G>A (p.Arg403=) n.1040G>A c.1077G>A (p.Arg359=) c.912G>A (p.Arg304=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.89257859_89257863delinsCCTTT | CA1645371286 | GABRR2 | c.1205_1209delinsAAAGG (p.Glu402=) n.1036_1040delinsAAAGG c.1073_1077delinsAAAGG (p.Glu358=) c.908_912delinsAAAGG (p.Glu303=) | |
6 | g.89257860C>A | CA364954868 | GABRR2 | c.1208G>T (p.Arg403Met) n.1039G>T c.1076G>T (p.Arg359Met) c.911G>T (p.Arg304Met) | |
6 | g.89257860C= | CA1645371288 | GABRR2 | c.1208G= (p.Arg403=) n.1039G= c.1076G= (p.Arg359=) c.911G= (p.Arg304=) | |
6 | g.89257860C>G | CA364954869 | GABRR2 | c.1208G>C (p.Arg403Thr) n.1039G>C c.1076G>C (p.Arg359Thr) c.911G>C (p.Arg304Thr) | |
6 | g.89257860C>T | CA364954870 | GABRR2 | c.1208G>A (p.Arg403Lys) n.1039G>A c.1076G>A (p.Arg359Lys) c.911G>A (p.Arg304Lys) | dbSNP |
6 | g.89257863_89257866del | CA569077177 | GABRR2 | c.1205_1208del (p.Glu402GlyfsTer5) n.1036_1039del c.1073_1076del (p.Glu358GlyfsTer5) c.908_911del (p.Glu303GlyfsTer5) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.89257861T>A | CA364954871 | GABRR2 | c.1207A>T (p.Arg403Trp) n.1038A>T c.1075A>T (p.Arg359Trp) c.910A>T (p.Arg304Trp) | |
6 | g.89257861T>C | CA364954872 | GABRR2 | c.1207A>G (p.Arg403Gly) n.1038A>G c.1075A>G (p.Arg359Gly) c.910A>G (p.Arg304Gly) | |
6 | g.89257861T>G | CA451348667 | GABRR2 | c.1207A>C (p.Arg403=) n.1038A>C c.1075A>C (p.Arg359=) c.910A>C (p.Arg304=) | |
6 | g.89257862T>A | CA364954873 | GABRR2 | c.1206A>T (p.Glu402Asp) n.1037A>T c.1074A>T (p.Glu358Asp) c.909A>T (p.Glu303Asp) | |
6 | g.89257862T>C | CA451348672 | GABRR2 | c.1206A>G (p.Glu402=) n.1037A>G c.1074A>G (p.Glu358=) c.909A>G (p.Glu303=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.89257862T>G | CA364954874 | GABRR2 | c.1206A>C (p.Glu402Asp) n.1037A>C c.1074A>C (p.Glu358Asp) c.909A>C (p.Glu303Asp) | |
6 | g.89257862T= | CA1645371289 | GABRR2 | c.1206A= (p.Glu402=) n.1037A= c.1074A= (p.Glu358=) c.909A= (p.Glu303=) | |
6 | g.89257863T>A | CA364954875 | GABRR2 | c.1205A>T (p.Glu402Val) n.1036A>T c.1073A>T (p.Glu358Val) c.908A>T (p.Glu303Val) | gnomAD v4 |
6 | g.89257863T>C | CA364954876 | GABRR2 | c.1205A>G (p.Glu402Gly) n.1036A>G c.1073A>G (p.Glu358Gly) c.908A>G (p.Glu303Gly) | |
6 | g.89257863T>G | CA364954877 | GABRR2 | c.1205A>C (p.Glu402Ala) n.1036A>C c.1073A>C (p.Glu358Ala) c.908A>C (p.Glu303Ala) | |
6 | g.89257864C>A | CA364954878 | GABRR2 | c.1204G>T (p.Glu402Ter) n.1035G>T c.1072G>T (p.Glu358Ter) c.907G>T (p.Glu303Ter) | |
6 | g.89257864C>G | CA364954879 | GABRR2 | c.1204G>C (p.Glu402Gln) n.1035G>C c.1072G>C (p.Glu358Gln) c.907G>C (p.Glu303Gln) | |
6 | g.89257864C>T | CA364954880 | GABRR2 | c.1204G>A (p.Glu402Lys) n.1035G>A c.1072G>A (p.Glu358Lys) c.907G>A (p.Glu303Lys) | |
6 | g.89257865T>A | CA364954881 | GABRR2 | c.1203A>T (p.Glu401Asp) n.1034A>T c.1071A>T (p.Glu357Asp) c.906A>T (p.Glu302Asp) | |
6 | g.89257865T>C | CA451348675 | GABRR2 | c.1203A>G (p.Glu401=) n.1034A>G c.1071A>G (p.Glu357=) c.906A>G (p.Glu302=) | |
6 | g.89257865T>G | CA364954882 | GABRR2 | c.1203A>C (p.Glu401Asp) n.1034A>C c.1071A>C (p.Glu357Asp) c.906A>C (p.Glu302Asp) | |
6 | g.89257866T>A | CA364954883 | GABRR2 | c.1202A>T (p.Glu401Val) n.1033A>T c.1070A>T (p.Glu357Val) c.905A>T (p.Glu302Val) | |
6 | g.89257866T>C | CA364954884 | GABRR2 | c.1202A>G (p.Glu401Gly) n.1033A>G c.1070A>G (p.Glu357Gly) c.905A>G (p.Glu302Gly) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.89257866T>G | CA364954885 | GABRR2 | c.1202A>C (p.Glu401Ala) n.1033A>C c.1070A>C (p.Glu357Ala) c.905A>C (p.Glu302Ala) | |
6 | g.89257866T= | CA1645371290 | GABRR2 | c.1202A= (p.Glu401=) n.1033A= c.1070A= (p.Glu357=) c.905A= (p.Glu302=) | |
6 | g.89257867C>A | CA364954888 | GABRR2 | c.1201G>T (p.Glu401Ter) n.1032G>T c.1069G>T (p.Glu357Ter) c.904G>T (p.Glu302Ter) | |
6 | g.89257867C= | CA1645371291 | GABRR2 | c.1201G= (p.Glu401=) n.1032G= c.1069G= (p.Glu357=) c.904G= (p.Glu302=) | |
6 | g.89257867C>G | CA364954887 | GABRR2 | c.1201G>C (p.Glu401Gln) n.1032G>C c.1069G>C (p.Glu357Gln) c.904G>C (p.Glu302Gln) | |
6 | g.89257867C>T | CA364954886 | GABRR2 | c.1201G>A (p.Glu401Lys) n.1032G>A c.1069G>A (p.Glu357Lys) c.904G>A (p.Glu302Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.89257868T>A | CA364954890 | GABRR2 | c.1200A>T (p.Glu400Asp) n.1031A>T c.1068A>T (p.Glu356Asp) c.903A>T (p.Glu301Asp) | |
6 | g.89257868T>C | CA451348679 | GABRR2 | c.1200A>G (p.Glu400=) n.1031A>G c.1068A>G (p.Glu356=) c.903A>G (p.Glu301=) | |
6 | g.89257868T>G | CA364954889 | GABRR2 | c.1200A>C (p.Glu400Asp) n.1031A>C c.1068A>C (p.Glu356Asp) c.903A>C (p.Glu301Asp) | |
6 | g.89257869T>A | CA364954891 | GABRR2 | c.1199A>T (p.Glu400Val) n.1030A>T c.1067A>T (p.Glu356Val) c.902A>T (p.Glu301Val) | |
6 | g.89257869T>C | CA364954892 | GABRR2 | c.1199A>G (p.Glu400Gly) n.1030A>G c.1067A>G (p.Glu356Gly) c.902A>G (p.Glu301Gly) | |
6 | g.89257869T>G | CA364954893 | GABRR2 | c.1199A>C (p.Glu400Ala) n.1030A>C c.1067A>C (p.Glu356Ala) c.902A>C (p.Glu301Ala) | gnomAD v4 |
6 | g.89257870C>A | CA364954894 | GABRR2 | c.1198G>T (p.Glu400Ter) n.1029G>T c.1066G>T (p.Glu356Ter) c.901G>T (p.Glu301Ter) | |
6 | g.89257870C= | CA1645371292 | GABRR2 | c.1198G= (p.Glu400=) n.1029G= c.1066G= (p.Glu356=) c.901G= (p.Glu301=) | |
6 | g.89257870C>G | CA364954895 | GABRR2 | c.1198G>C (p.Glu400Gln) n.1029G>C c.1066G>C (p.Glu356Gln) c.901G>C (p.Glu301Gln) | |
6 | g.89257870C>T | CA142928670 | GABRR2 | c.1198G>A (p.Glu400Lys) n.1029G>A c.1066G>A (p.Glu356Lys) c.901G>A (p.Glu301Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.89257871T>A | CA451348686 | GABRR2 | c.1197A>T (p.Thr399=) n.1028A>T c.1065A>T (p.Thr355=) c.900A>T (p.Thr300=) | |
6 | g.89257871T>C | CA451348687 | GABRR2 | c.1197A>G (p.Thr399=) n.1028A>G c.1065A>G (p.Thr355=) c.900A>G (p.Thr300=) | dbSNP |
6 | g.89257871T>G | CA451348690 | GABRR2 | c.1197A>C (p.Thr399=) n.1028A>C c.1065A>C (p.Thr355=) c.900A>C (p.Thr300=) | |
6 | g.89257871T= | CA1645371293 | GABRR2 | c.1197A= (p.Thr399=) n.1028A= c.1065A= (p.Thr355=) c.900A= (p.Thr300=) | |
6 | g.89257872G>A | CA364954896 | GABRR2 | c.1196C>T (p.Thr399Ile) n.1027C>T c.1064C>T (p.Thr355Ile) c.899C>T (p.Thr300Ile) | gnomAD v4 |
6 | g.89257872G>C | CA364954897 | GABRR2 | c.1196C>G (p.Thr399Arg) n.1027C>G c.1064C>G (p.Thr355Arg) c.899C>G (p.Thr300Arg) | |
6 | g.89257872G>T | CA364954898 | GABRR2 | c.1196C>A (p.Thr399Lys) n.1027C>A c.1064C>A (p.Thr355Lys) c.899C>A (p.Thr300Lys) | |
6 | g.89257873T>A | CA364954899 | GABRR2 | c.1195A>T (p.Thr399Ser) n.1026A>T c.1063A>T (p.Thr355Ser) c.898A>T (p.Thr300Ser) | |
6 | g.89257873T>C | CA364954900 | GABRR2 | c.1195A>G (p.Thr399Ala) n.1026A>G c.1063A>G (p.Thr355Ala) c.898A>G (p.Thr300Ala) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.89257873T>G | CA364954901 | GABRR2 | c.1195A>C (p.Thr399Pro) n.1026A>C c.1063A>C (p.Thr355Pro) c.898A>C (p.Thr300Pro) | |
6 | g.89257873T= | CA1645371294 | GABRR2 | c.1195A= (p.Thr399=) n.1026A= c.1063A= (p.Thr355=) c.898A= (p.Thr300=) | |
6 | g.89257874C>A | CA451348698 | GABRR2 | c.1194G>T (p.Leu398=) n.1025G>T c.1062G>T (p.Leu354=) c.897G>T (p.Leu299=) | |
6 | g.89257874C>G | CA451348700 | GABRR2 | c.1194G>C (p.Leu398=) n.1025G>C c.1062G>C (p.Leu354=) c.897G>C (p.Leu299=) | |
6 | g.89257874C>T | CA451348699 | GABRR2 | c.1194G>A (p.Leu398=) n.1025G>A c.1062G>A (p.Leu354=) c.897G>A (p.Leu299=) | |
6 | g.89257875A>C | CA364954904 | GABRR2 | c.1193T>G (p.Leu398Arg) n.1024T>G c.1061T>G (p.Leu354Arg) c.896T>G (p.Leu299Arg) | |
6 | g.89257875A>G | CA364954902 | GABRR2 | c.1193T>C (p.Leu398Pro) n.1024T>C c.1061T>C (p.Leu354Pro) c.896T>C (p.Leu299Pro) | gnomAD v4 |
6 | g.89257875A>T | CA364954903 | GABRR2 | c.1193T>A (p.Leu398Gln) n.1024T>A c.1061T>A (p.Leu354Gln) c.896T>A (p.Leu299Gln) | |
6 | g.89257876G>A | CA451348703 | GABRR2 | c.1192C>T (p.Leu398=) n.1023C>T c.1060C>T (p.Leu354=) c.895C>T (p.Leu299=) | gnomAD v4 |
6 | g.89257876G>C | CA364954905 | GABRR2 | c.1192C>G (p.Leu398Val) n.1023C>G c.1060C>G (p.Leu354Val) c.895C>G (p.Leu299Val) | |
6 | g.89257876G>T | CA364954906 | GABRR2 | c.1192C>A (p.Leu398Met) n.1023C>A c.1060C>A (p.Leu354Met) c.895C>A (p.Leu299Met) | |
6 | g.89257877G>A | CA451348708 | GABRR2 | c.1191C>T (p.Ile397=) n.1022C>T c.1059C>T (p.Ile353=) c.894C>T (p.Ile298=) | dbSNP gnomAD v4 |
6 | g.89257877G>C | CA364954907 | GABRR2 | c.1191C>G (p.Ile397Met) n.1022C>G c.1059C>G (p.Ile353Met) c.894C>G (p.Ile298Met) | gnomAD v4 |
6 | g.89257877G= | CA1645371295 | GABRR2 | c.1191C= (p.Ile397=) n.1022C= c.1059C= (p.Ile353=) c.894C= (p.Ile298=) | |
6 | g.89257877G>T | CA451348713 | GABRR2 | c.1191C>A (p.Ile397=) n.1022C>A c.1059C>A (p.Ile353=) c.894C>A (p.Ile298=) | |
6 | g.89257878A= | CA1645371296 | GABRR2 | c.1190T= (p.Ile397=) n.1021T= c.1058T= (p.Ile353=) c.893T= (p.Ile298=) | |
6 | g.89257878A>C | CA364954908 | GABRR2 | c.1190T>G (p.Ile397Ser) n.1021T>G c.1058T>G (p.Ile353Ser) c.893T>G (p.Ile298Ser) | |
6 | g.89257878A>G | CA142928674 | GABRR2 | c.1190T>C (p.Ile397Thr) n.1021T>C c.1058T>C (p.Ile353Thr) c.893T>C (p.Ile298Thr) | dbSNP gnomAD v4 |
6 | g.89257878A>T | CA364954909 | GABRR2 | c.1190T>A (p.Ile397Asn) n.1021T>A c.1058T>A (p.Ile353Asn) c.893T>A (p.Ile298Asn) | |
6 | g.89257879T>A | CA364954910 | GABRR2 | c.1189A>T (p.Ile397Phe) n.1020A>T c.1057A>T (p.Ile353Phe) c.892A>T (p.Ile298Phe) | |
6 | g.89257879T>C | CA364954911 | GABRR2 | c.1189A>G (p.Ile397Val) n.1020A>G c.1057A>G (p.Ile353Val) c.892A>G (p.Ile298Val) | |
6 | g.89257879T>G | CA364954912 | GABRR2 | c.1189A>C (p.Ile397Leu) n.1020A>C c.1057A>C (p.Ile353Leu) c.892A>C (p.Ile298Leu) |