Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.151822863_151822886del | CA2580073916 | GLRA1 | c.1139_1162del (p.Ile380_Asn387del) c.1163_1186del (p.Ile388_Asn395del) c.*897_*920del (n.*897_*920del) c.890_913del (p.Ile297_Asn304del) | ClinVar |
5 | g.151822870C>A | CA361850191 | GLRA1 | c.1153G>T (p.Ala385Ser) c.1177G>T (p.Ala393Ser) c.*911G>T (n.*911G>T) c.904G>T (p.Ala302Ser) | |
5 | g.151822870C= | CA1591565272 | GLRA1 | c.1153G= (p.Ala385=) c.1177G= (p.Ala393=) c.*911G= (n.*911G=) c.904G= (p.Ala302=) | |
5 | g.151822870C>G | CA361850192 | GLRA1 | c.1153G>C (p.Ala385Pro) c.1177G>C (p.Ala393Pro) c.*911G>C (n.*911G>C) c.904G>C (p.Ala302Pro) | |
5 | g.151822870C>T | CA3523497 | GLRA1 | c.1153G>A (p.Ala385Thr) c.1177G>A (p.Ala393Thr) c.*911G>A (n.*911G>A) c.904G>A (p.Ala302Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822871G>A | CA3523498 | GLRA1 | c.1152C>T (p.Gly384=) c.1176C>T (p.Gly392=) c.*910C>T (n.*910C>T) c.903C>T (p.Gly301=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822871G>C | CA447226624 | GLRA1 | c.1152C>G (p.Gly384=) c.1176C>G (p.Gly392=) c.*910C>G (n.*910C>G) c.903C>G (p.Gly301=) | |
5 | g.151822871G= | CA1591565273 | GLRA1 | c.1152C= (p.Gly384=) c.1176C= (p.Gly392=) c.*910C= (n.*910C=) c.903C= (p.Gly301=) | |
5 | g.151822871G>T | CA447226625 | GLRA1 | c.1152C>A (p.Gly384=) c.1176C>A (p.Gly392=) c.*910C>A (n.*910C>A) c.903C>A (p.Gly301=) | |
5 | g.151822872C>A | CA361850193 | GLRA1 | c.1151G>T (p.Gly384Val) c.1175G>T (p.Gly392Val) c.*909G>T (n.*909G>T) c.902G>T (p.Gly301Val) | |
5 | g.151822872C= | CA1591565274 | GLRA1 | c.1151G= (p.Gly384=) c.1175G= (p.Gly392=) c.*909G= (n.*909G=) c.902G= (p.Gly301=) | |
5 | g.151822872C>G | CA361850194 | GLRA1 | c.1151G>C (p.Gly384Ala) c.1175G>C (p.Gly392Ala) c.*909G>C (n.*909G>C) c.902G>C (p.Gly301Ala) | |
5 | g.151822872C>T | CA3523499 | GLRA1 | c.1151G>A (p.Gly384Asp) c.1175G>A (p.Gly392Asp) c.*909G>A (n.*909G>A) c.902G>A (p.Gly301Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822873C>A | CA361850195 | GLRA1 | c.1150G>T (p.Gly384Cys) c.1174G>T (p.Gly392Cys) c.*908G>T (n.*908G>T) c.901G>T (p.Gly301Cys) | gnomAD v4 |
5 | g.151822873C>G | CA361850196 | GLRA1 | c.1150G>C (p.Gly384Arg) c.1174G>C (p.Gly392Arg) c.*908G>C (n.*908G>C) c.901G>C (p.Gly301Arg) | |
5 | g.151822873C>T | CA361850197 | GLRA1 | c.1150G>A (p.Gly384Ser) c.1174G>A (p.Gly392Ser) c.*908G>A (n.*908G>A) c.901G>A (p.Gly301Ser) | gnomAD v4 |
5 | g.151822874C>A | CA361850198 | GLRA1 | c.1149G>T (p.Lys383Asn) c.1173G>T (p.Lys391Asn) c.*907G>T (n.*907G>T) c.900G>T (p.Lys300Asn) | |
5 | g.151822874C= | CA1591565275 | GLRA1 | c.1149G= (p.Lys383=) c.1173G= (p.Lys391=) c.*907G= (n.*907G=) c.900G= (p.Lys300=) | |
5 | g.151822874C>G | CA361850199 | GLRA1 | c.1149G>C (p.Lys383Asn) c.1173G>C (p.Lys391Asn) c.*907G>C (n.*907G>C) c.900G>C (p.Lys300Asn) | |
5 | g.151822874C>T | CA3523500 | GLRA1 | c.1149G>A (p.Lys383=) c.1173G>A (p.Lys391=) c.*907G>A (n.*907G>A) c.900G>A (p.Lys300=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822875T>A | CA361850200 | GLRA1 | c.1148A>T (p.Lys383Met) c.1172A>T (p.Lys391Met) c.*906A>T (n.*906A>T) c.899A>T (p.Lys300Met) | |
5 | g.151822875T>C | CA361850202 | GLRA1 | c.1148A>G (p.Lys383Arg) c.1172A>G (p.Lys391Arg) c.*906A>G (n.*906A>G) c.899A>G (p.Lys300Arg) | |
5 | g.151822875T>G | CA361850201 | GLRA1 | c.1148A>C (p.Lys383Thr) c.1172A>C (p.Lys391Thr) c.*906A>C (n.*906A>C) c.899A>C (p.Lys300Thr) | |
5 | g.151822876T>A | CA361850203 | GLRA1 | c.1147A>T (p.Lys383Ter) c.1171A>T (p.Lys391Ter) c.*905A>T (n.*905A>T) c.898A>T (p.Lys300Ter) | |
5 | g.151822876T>C | CA361850204 | GLRA1 | c.1147A>G (p.Lys383Glu) c.1171A>G (p.Lys391Glu) c.*905A>G (n.*905A>G) c.898A>G (p.Lys300Glu) | |
5 | g.151822876T>G | CA361850205 | GLRA1 | c.1147A>C (p.Lys383Gln) c.1171A>C (p.Lys391Gln) c.*905A>C (n.*905A>C) c.898A>C (p.Lys300Gln) | |
5 | g.151822877G>A | CA447226626 | GLRA1 | c.1146C>T (p.Val382=) c.1170C>T (p.Val390=) c.*904C>T (n.*904C>T) c.897C>T (p.Val299=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822877G>C | CA447226627 | GLRA1 | c.1146C>G (p.Val382=) c.1170C>G (p.Val390=) c.*904C>G (n.*904C>G) c.897C>G (p.Val299=) | dbSNP |
5 | g.151822877G= | CA1591565276 | GLRA1 | c.1146C= (p.Val382=) c.1170C= (p.Val390=) c.*904C= (n.*904C=) c.897C= (p.Val299=) | |
5 | g.151822877G>T | CA447226628 | GLRA1 | c.1146C>A (p.Val382=) c.1170C>A (p.Val390=) c.*904C>A (n.*904C>A) c.897C>A (p.Val299=) | |
5 | g.151822878A= | CA1591565277 | GLRA1 | c.1145T= (p.Val382=) c.1169T= (p.Val390=) c.*903T= (n.*903T=) c.896T= (p.Val299=) | |
5 | g.151822878A>C | CA361850206 | GLRA1 | c.1145T>G (p.Val382Gly) c.1169T>G (p.Val390Gly) c.*903T>G (n.*903T>G) c.896T>G (p.Val299Gly) | |
5 | g.151822878A>G | CA3523501 | GLRA1 | c.1145T>C (p.Val382Ala) c.1169T>C (p.Val390Ala) c.*903T>C (n.*903T>C) c.896T>C (p.Val299Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822878A>T | CA361850207 | GLRA1 | c.1145T>A (p.Val382Asp) c.1169T>A (p.Val390Asp) c.*903T>A (n.*903T>A) c.896T>A (p.Val299Asp) | |
5 | g.151822879C>A | CA361850208 | GLRA1 | c.1144G>T (p.Val382Phe) c.1168G>T (p.Val390Phe) c.*902G>T (n.*902G>T) c.895G>T (p.Val299Phe) | |
5 | g.151822879C= | CA1591565278 | GLRA1 | c.1144G= (p.Val382=) c.1168G= (p.Val390=) c.*902G= (n.*902G=) c.895G= (p.Val299=) | |
5 | g.151822879C>G | CA361850209 | GLRA1 | c.1144G>C (p.Val382Leu) c.1168G>C (p.Val390Leu) c.*902G>C (n.*902G>C) c.895G>C (p.Val299Leu) | dbSNP gnomAD v2 |
5 | g.151822879C>T | CA361850210 | GLRA1 | c.1144G>A (p.Val382Ile) c.1168G>A (p.Val390Ile) c.*902G>A (n.*902G>A) c.895G>A (p.Val299Ile) | |
5 | g.151822880T>A | CA447226629 | GLRA1 | c.1143A>T (p.Ser381=) c.1167A>T (p.Ser389=) c.*901A>T (n.*901A>T) c.894A>T (p.Ser298=) | |
5 | g.151822880T>C | CA447226630 | GLRA1 | c.1143A>G (p.Ser381=) c.1167A>G (p.Ser389=) c.*901A>G (n.*901A>G) c.894A>G (p.Ser298=) | |
5 | g.151822880T>G | CA447226631 | GLRA1 | c.1143A>C (p.Ser381=) c.1167A>C (p.Ser389=) c.*901A>C (n.*901A>C) c.894A>C (p.Ser298=) | |
5 | g.151822881G>A | CA3523502 | GLRA1 | c.1142C>T (p.Ser381Leu) c.1166C>T (p.Ser389Leu) c.*900C>T (n.*900C>T) c.893C>T (p.Ser298Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822881G>C | CA361850211 | GLRA1 | c.1142C>G (p.Ser381Ter) c.1166C>G (p.Ser389Ter) c.*900C>G (n.*900C>G) c.893C>G (p.Ser298Ter) | |
5 | g.151822881G= | CA1591565279 | GLRA1 | c.1142C= (p.Ser381=) c.1166C= (p.Ser389=) c.*900C= (n.*900C=) c.893C= (p.Ser298=) | |
5 | g.151822881G>T | CA361850212 | GLRA1 | c.1142C>A (p.Ser381Ter) c.1166C>A (p.Ser389Ter) c.*900C>A (n.*900C>A) c.893C>A (p.Ser298Ter) | |
5 | g.151822882A>C | CA361850213 | GLRA1 | c.1141T>G (p.Ser381Ala) c.1165T>G (p.Ser389Ala) c.*899T>G (n.*899T>G) c.892T>G (p.Ser298Ala) | |
5 | g.151822882A>G | CA361850215 | GLRA1 | c.1141T>C (p.Ser381Pro) c.1165T>C (p.Ser389Pro) c.*899T>C (n.*899T>C) c.892T>C (p.Ser298Pro) | |
5 | g.151822882A>T | CA361850214 | GLRA1 | c.1141T>A (p.Ser381Thr) c.1165T>A (p.Ser389Thr) c.*899T>A (n.*899T>A) c.892T>A (p.Ser298Thr) | |
5 | g.151822883G>A | CA447226633 | GLRA1 | c.1140C>T (p.Ile380=) c.1164C>T (p.Ile388=) c.*898C>T (n.*898C>T) c.891C>T (p.Ile297=) | |
5 | g.151822883G>C | CA130006384 | GLRA1 | c.1140C>G (p.Ile380Met) c.1164C>G (p.Ile388Met) c.*898C>G (n.*898C>G) c.891C>G (p.Ile297Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.151822883G= | CA1591565280 | GLRA1 | c.1140C= (p.Ile380=) c.1164C= (p.Ile388=) c.*898C= (n.*898C=) c.891C= (p.Ile297=) | |
5 | g.151822883G>T | CA447226634 | GLRA1 | c.1140C>A (p.Ile380=) c.1164C>A (p.Ile388=) c.*898C>A (n.*898C>A) c.891C>A (p.Ile297=) | |
5 | g.151822884A>C | CA361850216 | GLRA1 | c.1139T>G (p.Ile380Ser) c.1163T>G (p.Ile388Ser) c.*897T>G (n.*897T>G) c.890T>G (p.Ile297Ser) | |
5 | g.151822884A>G | CA361850217 | GLRA1 | c.1139T>C (p.Ile380Thr) c.1163T>C (p.Ile388Thr) c.*897T>C (n.*897T>C) c.890T>C (p.Ile297Thr) | |
5 | g.151822884A>T | CA361850218 | GLRA1 | c.1139T>A (p.Ile380Asn) c.1163T>A (p.Ile388Asn) c.*897T>A (n.*897T>A) c.890T>A (p.Ile297Asn) | |
5 | g.151822885T>A | CA361850219 | GLRA1 | c.1138A>T (p.Ile380Phe) c.1162A>T (p.Ile388Phe) c.*896A>T (n.*896A>T) c.889A>T (p.Ile297Phe) | |
5 | g.151822885T>C | CA361850220 | GLRA1 | c.1138A>G (p.Ile380Val) c.1162A>G (p.Ile388Val) c.*896A>G (n.*896A>G) c.889A>G (p.Ile297Val) | |
5 | g.151822885T>G | CA361850221 | GLRA1 | c.1138A>C (p.Ile380Leu) c.1162A>C (p.Ile388Leu) c.*896A>C (n.*896A>C) c.889A>C (p.Ile297Leu) | |
5 | g.151822886G>A | CA447226635 | GLRA1 | c.1137C>T (p.Gly379=) c.1161C>T (p.Gly387=) c.*895C>T (n.*895C>T) c.888C>T (p.Gly296=) | |
5 | g.151822886G>C | CA447226636 | GLRA1 | c.1137C>G (p.Gly379=) c.1161C>G (p.Gly387=) c.*895C>G (n.*895C>G) c.888C>G (p.Gly296=) | |
5 | g.151822886G>T | CA447226637 | GLRA1 | c.1137C>A (p.Gly379=) c.1161C>A (p.Gly387=) c.*895C>A (n.*895C>A) c.888C>A (p.Gly296=) | |
5 | g.151822887C>A | CA361850222 | GLRA1 | c.1136G>T (p.Gly379Val) c.1160G>T (p.Gly387Val) c.*894G>T (n.*894G>T) c.887G>T (p.Gly296Val) | gnomAD v4 |
5 | g.151822887C>G | CA361850223 | GLRA1 | c.1136G>C (p.Gly379Ala) c.1160G>C (p.Gly387Ala) c.*894G>C (n.*894G>C) c.887G>C (p.Gly296Ala) | |
5 | g.151822887C>T | CA361850224 | GLRA1 | c.1136G>A (p.Gly379Asp) c.1160G>A (p.Gly387Asp) c.*894G>A (n.*894G>A) c.887G>A (p.Gly296Asp) | ClinVar dbSNP |
5 | g.151822888C>A | CA361850225 | GLRA1 | c.1135G>T (p.Gly379Cys) c.1159G>T (p.Gly387Cys) c.*893G>T (n.*893G>T) c.886G>T (p.Gly296Cys) | |
5 | g.151822888C= | CA1591565281 | GLRA1 | c.1135G= (p.Gly379=) c.1159G= (p.Gly387=) c.*893G= (n.*893G=) c.886G= (p.Gly296=) | |
5 | g.151822888C>G | CA361850226 | GLRA1 | c.1135G>C (p.Gly379Arg) c.1159G>C (p.Gly387Arg) c.*893G>C (n.*893G>C) c.886G>C (p.Gly296Arg) | |
5 | g.151822888C>T | CA3523503 | GLRA1 | c.1135G>A (p.Gly379Ser) c.1159G>A (p.Gly387Ser) c.*893G>A (n.*893G>A) c.886G>A (p.Gly296Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822889A= | CA1591565282 | GLRA1 | c.1134T= (p.Asp378=) c.1158T= (p.Asp386=) c.*892T= (n.*892T=) c.885T= (p.Asp295=) | |
5 | g.151822889A>C | CA361850228 | GLRA1 | c.1134T>G (p.Asp378Glu) c.1158T>G (p.Asp386Glu) c.*892T>G (n.*892T>G) c.885T>G (p.Asp295Glu) | |
5 | g.151822889A>G | CA3523504 | GLRA1 | c.1134T>C (p.Asp378=) c.1158T>C (p.Asp386=) c.*892T>C (n.*892T>C) c.885T>C (p.Asp295=) | ClinVar dbSNP ExAC |
5 | g.151822889A>T | CA361850227 | GLRA1 | c.1134T>A (p.Asp378Glu) c.1158T>A (p.Asp386Glu) c.*892T>A (n.*892T>A) c.885T>A (p.Asp295Glu) | |
5 | g.151822890T>A | CA361850229 | GLRA1 | c.1133A>T (p.Asp378Val) c.1157A>T (p.Asp386Val) c.*891A>T (n.*891A>T) c.884A>T (p.Asp295Val) | |
5 | g.151822890T>C | CA361850230 | GLRA1 | c.1133A>G (p.Asp378Gly) c.1157A>G (p.Asp386Gly) c.*891A>G (n.*891A>G) c.884A>G (p.Asp295Gly) | |
5 | g.151822890T>G | CA361850231 | GLRA1 | c.1133A>C (p.Asp378Ala) c.1157A>C (p.Asp386Ala) c.*891A>C (n.*891A>C) c.884A>C (p.Asp295Ala) | |
5 | g.151822891C>A | CA3523505 | GLRA1 | c.1132G>T (p.Asp378Tyr) c.1156G>T (p.Asp386Tyr) c.*890G>T (n.*890G>T) c.883G>T (p.Asp295Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822891C= | CA1591565283 | GLRA1 | c.1132G= (p.Asp378=) c.1156G= (p.Asp386=) c.*890G= (n.*890G=) c.883G= (p.Asp295=) | |
5 | g.151822891C>G | CA361850232 | GLRA1 | c.1132G>C (p.Asp378His) c.1156G>C (p.Asp386His) c.*890G>C (n.*890G>C) c.883G>C (p.Asp295His) | |
5 | g.151822891C>T | CA361850233 | GLRA1 | c.1132G>A (p.Asp378Asn) c.1156G>A (p.Asp386Asn) c.*890G>A (n.*890G>A) c.883G>A (p.Asp295Asn) | |
5 | g.151822892C>A | CA361850234 | GLRA1 | c.1131G>T (p.Lys377Asn) c.1155G>T (p.Lys385Asn) c.*889G>T (n.*889G>T) c.882G>T (p.Lys294Asn) | |
5 | g.151822892C>G | CA361850235 | GLRA1 | c.1131G>C (p.Lys377Asn) c.1155G>C (p.Lys385Asn) c.*889G>C (n.*889G>C) c.882G>C (p.Lys294Asn) | |
5 | g.151822892C>T | CA447226638 | GLRA1 | c.1131G>A (p.Lys377=) c.1155G>A (p.Lys385=) c.*889G>A (n.*889G>A) c.882G>A (p.Lys294=) | |
5 | g.151822893T>A | CA361850236 | GLRA1 | c.1130A>T (p.Lys377Met) c.1154A>T (p.Lys385Met) c.*888A>T (n.*888A>T) c.881A>T (p.Lys294Met) | |
5 | g.151822893T>C | CA3523506 | GLRA1 | c.1130A>G (p.Lys377Arg) c.1154A>G (p.Lys385Arg) c.*888A>G (n.*888A>G) c.881A>G (p.Lys294Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822893T>G | CA361850237 | GLRA1 | c.1130A>C (p.Lys377Thr) c.1154A>C (p.Lys385Thr) c.*888A>C (n.*888A>C) c.881A>C (p.Lys294Thr) | |
5 | g.151822893T= | CA1591565284 | GLRA1 | c.1130A= (p.Lys377=) c.1154A= (p.Lys385=) c.*888A= (n.*888A=) c.881A= (p.Lys294=) | |
5 | g.151822894T>A | CA361850240 | GLRA1 | c.1129A>T (p.Lys377Ter) c.1153A>T (p.Lys385Ter) c.*887A>T (n.*887A>T) c.880A>T (p.Lys294Ter) | |
5 | g.151822894T>C | CA361850238 | GLRA1 | c.1129A>G (p.Lys377Glu) c.1153A>G (p.Lys385Glu) c.*887A>G (n.*887A>G) c.880A>G (p.Lys294Glu) | |
5 | g.151822894T>G | CA361850239 | GLRA1 | c.1129A>C (p.Lys377Gln) c.1153A>C (p.Lys385Gln) c.*887A>C (n.*887A>C) c.880A>C (p.Lys294Gln) | |
5 | g.151822895G>A | CA447226639 | GLRA1 | c.1128C>T (p.Ala376=) c.1152C>T (p.Ala384=) c.*886C>T (n.*886C>T) c.879C>T (p.Ala293=) | gnomAD v4 |
5 | g.151822895G>C | CA447226641 | GLRA1 | c.1128C>G (p.Ala376=) c.1152C>G (p.Ala384=) c.*886C>G (n.*886C>G) c.879C>G (p.Ala293=) | |
5 | g.151822895G>T | CA447226640 | GLRA1 | c.1128C>A (p.Ala376=) c.1152C>A (p.Ala384=) c.*886C>A (n.*886C>A) c.879C>A (p.Ala293=) | |
5 | g.151822896G>A | CA361850241 | GLRA1 | c.1127C>T (p.Ala376Val) c.1151C>T (p.Ala384Val) c.*885C>T (n.*885C>T) c.878C>T (p.Ala293Val) | dbSNP gnomAD v2 |
5 | g.151822896G>C | CA361850242 | GLRA1 | c.1127C>G (p.Ala376Gly) c.1151C>G (p.Ala384Gly) c.*885C>G (n.*885C>G) c.878C>G (p.Ala293Gly) | |
5 | g.151822896G= | CA1591565285 | GLRA1 | c.1127C= (p.Ala376=) c.1151C= (p.Ala384=) c.*885C= (n.*885C=) c.878C= (p.Ala293=) | |
5 | g.151822896G>T | CA361850243 | GLRA1 | c.1127C>A (p.Ala376Asp) c.1151C>A (p.Ala384Asp) c.*885C>A (n.*885C>A) c.878C>A (p.Ala293Asp) | |
5 | g.151822897C>A | CA361850244 | GLRA1 | c.1126G>T (p.Ala376Ser) c.1150G>T (p.Ala384Ser) c.*884G>T (n.*884G>T) c.877G>T (p.Ala293Ser) | |
5 | g.151822897C>G | CA361850245 | GLRA1 | c.1126G>C (p.Ala376Pro) c.1150G>C (p.Ala384Pro) c.*884G>C (n.*884G>C) c.877G>C (p.Ala293Pro) | |
5 | g.151822897C>T | CA361850246 | GLRA1 | c.1126G>A (p.Ala376Thr) c.1150G>A (p.Ala384Thr) c.*884G>A (n.*884G>A) c.877G>A (p.Ala293Thr) | |
5 | g.151822898C>A | CA361850247 | GLRA1 | c.1125G>T (p.Gln375His) c.1149G>T (p.Gln383His) c.*883G>T (n.*883G>T) c.876G>T (p.Gln292His) | COSMIC |
5 | g.151822898C= | CA1591565286 | GLRA1 | c.1125G= (p.Gln375=) c.1149G= (p.Gln383=) c.*883G= (n.*883G=) c.876G= (p.Gln292=) | |
5 | g.151822898C>G | CA361850248 | GLRA1 | c.1125G>C (p.Gln375His) c.1149G>C (p.Gln383His) c.*883G>C (n.*883G>C) c.876G>C (p.Gln292His) | dbSNP |
5 | g.151822898C>T | CA447226642 | GLRA1 | c.1125G>A (p.Gln375=) c.1149G>A (p.Gln383=) c.*883G>A (n.*883G>A) c.876G>A (p.Gln292=) | |
5 | g.151822899T>A | CA361850249 | GLRA1 | c.1124A>T (p.Gln375Leu) c.1148A>T (p.Gln383Leu) c.*882A>T (n.*882A>T) c.875A>T (p.Gln292Leu) | ClinVar dbSNP |
5 | g.151822899T>C | CA361850250 | GLRA1 | c.1124A>G (p.Gln375Arg) c.1148A>G (p.Gln383Arg) c.*882A>G (n.*882A>G) c.875A>G (p.Gln292Arg) | |
5 | g.151822899T>G | CA361850251 | GLRA1 | c.1124A>C (p.Gln375Pro) c.1148A>C (p.Gln383Pro) c.*882A>C (n.*882A>C) c.875A>C (p.Gln292Pro) | |
5 | g.151822899T= | CA1591565287 | GLRA1 | c.1124A= (p.Gln375=) c.1148A= (p.Gln383=) c.*882A= (n.*882A=) c.875A= (p.Gln292=) | |
5 | g.151822900G>A | CA361850254 | GLRA1 | c.1123C>T (p.Gln375Ter) c.1147C>T (p.Gln383Ter) c.*881C>T (n.*881C>T) c.874C>T (p.Gln292Ter) | gnomAD v4 |
5 | g.151822900G>C | CA361850253 | GLRA1 | c.1123C>G (p.Gln375Glu) c.1147C>G (p.Gln383Glu) c.*881C>G (n.*881C>G) c.874C>G (p.Gln292Glu) | |
5 | g.151822900G>T | CA361850252 | GLRA1 | c.1123C>A (p.Gln375Lys) c.1147C>A (p.Gln383Lys) c.*881C>A (n.*881C>A) c.874C>A (p.Gln292Lys) | |
5 | g.151822901T>A | CA447226643 | GLRA1 | c.1122A>T (p.Leu374=) c.1146A>T (p.Leu382=) c.*880A>T (n.*880A>T) c.873A>T (p.Leu291=) | |
5 | g.151822901T>C | CA447226645 | GLRA1 | c.1122A>G (p.Leu374=) c.1146A>G (p.Leu382=) c.*880A>G (n.*880A>G) c.873A>G (p.Leu291=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151822901T>G | CA447226644 | GLRA1 | c.1122A>C (p.Leu374=) c.1146A>C (p.Leu382=) c.*880A>C (n.*880A>C) c.873A>C (p.Leu291=) | |
5 | g.151822901T= | CA1591565288 | GLRA1 | c.1122A= (p.Leu374=) c.1146A= (p.Leu382=) c.*880A= (n.*880A=) c.873A= (p.Leu291=) | |
5 | g.151822902A>C | CA361850255 | GLRA1 | c.1121T>G (p.Leu374Arg) c.1145T>G (p.Leu382Arg) c.*879T>G (n.*879T>G) c.872T>G (p.Leu291Arg) | |
5 | g.151822902A>G | CA361850256 | GLRA1 | c.1121T>C (p.Leu374Pro) c.1145T>C (p.Leu382Pro) c.*879T>C (n.*879T>C) c.872T>C (p.Leu291Pro) | |
5 | g.151822902A>T | CA361850257 | GLRA1 | c.1121T>A (p.Leu374Gln) c.1145T>A (p.Leu382Gln) c.*879T>A (n.*879T>A) c.872T>A (p.Leu291Gln) | |
5 | g.151822903G>A | CA447226647 | GLRA1 | c.1120C>T (p.Leu374=) c.1144C>T (p.Leu382=) c.*878C>T (n.*878C>T) c.871C>T (p.Leu291=) | |
5 | g.151822903G>C | CA361850258 | GLRA1 | c.1120C>G (p.Leu374Val) c.1144C>G (p.Leu382Val) c.*878C>G (n.*878C>G) c.871C>G (p.Leu291Val) | |
5 | g.151822903G>T | CA361850259 | GLRA1 | c.1120C>A (p.Leu374Ile) c.1144C>A (p.Leu382Ile) c.*878C>A (n.*878C>A) c.871C>A (p.Leu291Ile) | |
5 | g.151822904A>C | CA361850260 | GLRA1 | c.1119T>G (p.Cys373Trp) c.1143T>G (p.Cys381Trp) c.*877T>G (n.*877T>G) c.870T>G (p.Cys290Trp) | |
5 | g.151822904A>G | CA447226648 | GLRA1 | c.1119T>C (p.Cys373=) c.1143T>C (p.Cys381=) c.*877T>C (n.*877T>C) c.870T>C (p.Cys290=) | |
5 | g.151822904A>T | CA361850261 | GLRA1 | c.1119T>A (p.Cys373Ter) c.1143T>A (p.Cys381Ter) c.*877T>A (n.*877T>A) c.870T>A (p.Cys290Ter) | |
5 | g.151822905C>A | CA361850262 | GLRA1 | c.1118G>T (p.Cys373Phe) c.1142G>T (p.Cys381Phe) c.*876G>T (n.*876G>T) c.869G>T (p.Cys290Phe) | |
5 | g.151822905C>G | CA361850263 | GLRA1 | c.1118G>C (p.Cys373Ser) c.1142G>C (p.Cys381Ser) c.*876G>C (n.*876G>C) c.869G>C (p.Cys290Ser) | |
5 | g.151822905C>T | CA361850264 | GLRA1 | c.1118G>A (p.Cys373Tyr) c.1142G>A (p.Cys381Tyr) c.*876G>A (n.*876G>A) c.869G>A (p.Cys290Tyr) | |
5 | g.151822906A>C | CA361850265 | GLRA1 | c.1117T>G (p.Cys373Gly) c.1141T>G (p.Cys381Gly) c.*875T>G (n.*875T>G) c.868T>G (p.Cys290Gly) | |
5 | g.151822906A>G | CA361850266 | GLRA1 | c.1117T>C (p.Cys373Arg) c.1141T>C (p.Cys381Arg) c.*875T>C (n.*875T>C) c.868T>C (p.Cys290Arg) | |
5 | g.151822906A>T | CA361850267 | GLRA1 | c.1117T>A (p.Cys373Ser) c.1141T>A (p.Cys381Ser) c.*875T>A (n.*875T>A) c.868T>A (p.Cys290Ser) | |
5 | g.151822907G>A | CA447226649 | GLRA1 | c.1116C>T (p.Ala372=) c.1140C>T (p.Ala380=) c.*874C>T (n.*874C>T) c.867C>T (p.Ala289=) | |
5 | g.151822907G>C | CA447226650 | GLRA1 | c.1116C>G (p.Ala372=) c.1140C>G (p.Ala380=) c.*874C>G (n.*874C>G) c.867C>G (p.Ala289=) | |
5 | g.151822907G>T | CA447226651 | GLRA1 | c.1116C>A (p.Ala372=) c.1140C>A (p.Ala380=) c.*874C>A (n.*874C>A) c.867C>A (p.Ala289=) | |
5 | g.151822908G>A | CA361850270 | GLRA1 | c.1115C>T (p.Ala372Val) c.1139C>T (p.Ala380Val) c.*873C>T (n.*873C>T) c.866C>T (p.Ala289Val) | |
5 | g.151822908G>C | CA361850268 | GLRA1 | c.1115C>G (p.Ala372Gly) c.1139C>G (p.Ala380Gly) c.*873C>G (n.*873C>G) c.866C>G (p.Ala289Gly) | |
5 | g.151822908G>T | CA361850269 | GLRA1 | c.1115C>A (p.Ala372Asp) c.1139C>A (p.Ala380Asp) c.*873C>A (n.*873C>A) c.866C>A (p.Ala289Asp) | |
5 | g.151822909C>A | CA361850271 | GLRA1 | c.1114G>T (p.Ala372Ser) c.1138G>T (p.Ala380Ser) c.*872G>T (n.*872G>T) c.865G>T (p.Ala289Ser) | |
5 | g.151822909C>G | CA361850272 | GLRA1 | c.1114G>C (p.Ala372Pro) c.1138G>C (p.Ala380Pro) c.*872G>C (n.*872G>C) c.865G>C (p.Ala289Pro) | |
5 | g.151822909C>T | CA361850273 | GLRA1 | c.1114G>A (p.Ala372Thr) c.1138G>A (p.Ala380Thr) c.*872G>A (n.*872G>A) c.865G>A (p.Ala289Thr) | |
5 | g.151822910T>A | CA447226654 | GLRA1 | c.1113A>T (p.Pro371=) c.1137A>T (p.Pro379=) c.*871A>T (n.*871A>T) c.864A>T (p.Pro288=) | |
5 | g.151822910T>C | CA447226652 | GLRA1 | c.1113A>G (p.Pro371=) c.1137A>G (p.Pro379=) c.*871A>G (n.*871A>G) c.864A>G (p.Pro288=) | |
5 | g.151822910T>G | CA447226653 | GLRA1 | c.1113A>C (p.Pro371=) c.1137A>C (p.Pro379=) c.*871A>C (n.*871A>C) c.864A>C (p.Pro288=) | |
5 | g.151822911G>A | CA361850274 | GLRA1 | c.1112C>T (p.Pro371Leu) c.1136C>T (p.Pro379Leu) c.*870C>T (n.*870C>T) c.863C>T (p.Pro288Leu) | |
5 | g.151822911G>C | CA361850275 | GLRA1 | c.1112C>G (p.Pro371Arg) c.1136C>G (p.Pro379Arg) c.*870C>G (n.*870C>G) c.863C>G (p.Pro288Arg) | |
5 | g.151822911G>T | CA361850276 | GLRA1 | c.1112C>A (p.Pro371Gln) c.1136C>A (p.Pro379Gln) c.*870C>A (n.*870C>A) c.863C>A (p.Pro288Gln) | |
5 | g.151822912G>A | CA361850277 | GLRA1 | c.1111C>T (p.Pro371Ser) c.1135C>T (p.Pro379Ser) c.*869C>T (n.*869C>T) c.862C>T (p.Pro288Ser) | |
5 | g.151822912G>C | CA361850278 | GLRA1 | c.1111C>G (p.Pro371Ala) c.1135C>G (p.Pro379Ala) c.*869C>G (n.*869C>G) c.862C>G (p.Pro288Ala) | |
5 | g.151822912G>T | CA361850279 | GLRA1 | c.1111C>A (p.Pro371Thr) c.1135C>A (p.Pro379Thr) c.*869C>A (n.*869C>A) c.862C>A (p.Pro288Thr) | gnomAD v4 |
5 | g.151822913G>A | CA3523507 | GLRA1 | c.1110C>T (p.Gly370=) c.1134C>T (p.Gly378=) c.*868C>T (n.*868C>T) c.861C>T (p.Gly287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822913G>C | CA447226656 | GLRA1 | c.1110C>G (p.Gly370=) c.1134C>G (p.Gly378=) c.*868C>G (n.*868C>G) c.861C>G (p.Gly287=) | |
5 | g.151822913G= | CA1591565289 | GLRA1 | c.1110C= (p.Gly370=) c.1134C= (p.Gly378=) c.*868C= (n.*868C=) c.861C= (p.Gly287=) | |
5 | g.151822913G>T | CA447226657 | GLRA1 | c.1110C>A (p.Gly370=) c.1134C>A (p.Gly378=) c.*868C>A (n.*868C>A) c.861C>A (p.Gly287=) | dbSNP gnomAD v4 |
5 | g.151822914C>A | CA361850280 | GLRA1 | c.1109G>T (p.Gly370Val) c.1133G>T (p.Gly378Val) c.*867G>T (n.*867G>T) c.860G>T (p.Gly287Val) | |
5 | g.151822914C>G | CA361850281 | GLRA1 | c.1109G>C (p.Gly370Ala) c.1133G>C (p.Gly378Ala) c.*867G>C (n.*867G>C) c.860G>C (p.Gly287Ala) | |
5 | g.151822914C>T | CA361850282 | GLRA1 | c.1109G>A (p.Gly370Asp) c.1133G>A (p.Gly378Asp) c.*867G>A (n.*867G>A) c.860G>A (p.Gly287Asp) | |
5 | g.151822915C>A | CA361850283 | GLRA1 | c.1108G>T (p.Gly370Cys) c.1132G>T (p.Gly378Cys) c.*866G>T (n.*866G>T) c.859G>T (p.Gly287Cys) | |
5 | g.151822915C= | CA1591565290 | GLRA1 | c.1108G= (p.Gly370=) c.1132G= (p.Gly378=) c.*866G= (n.*866G=) c.859G= (p.Gly287=) | |
5 | g.151822915C>G | CA361850284 | GLRA1 | c.1108G>C (p.Gly370Arg) c.1132G>C (p.Gly378Arg) c.*866G>C (n.*866G>C) c.859G>C (p.Gly287Arg) | |
5 | g.151822915C>T | CA342947 | GLRA1 | c.1108G>A (p.Gly370Ser) c.1132G>A (p.Gly378Ser) c.*866G>A (n.*866G>A) c.859G>A (p.Gly287Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822916C>A | CA361850286 | GLRA1 | c.1107G>T (p.Met369Ile) c.1131G>T (p.Met377Ile) c.*865G>T (n.*865G>T) c.858G>T (p.Met286Ile) | |
5 | g.151822916C>G | CA361850285 | GLRA1 | c.1107G>C (p.Met369Ile) c.1131G>C (p.Met377Ile) c.*865G>C (n.*865G>C) c.858G>C (p.Met286Ile) | |
5 | g.151822916C>T | CA361850287 | GLRA1 | c.1107G>A (p.Met369Ile) c.1131G>A (p.Met377Ile) c.*865G>A (n.*865G>A) c.858G>A (p.Met286Ile) | |
5 | g.151822917A>C | CA361850288 | GLRA1 | c.1106T>G (p.Met369Arg) c.1130T>G (p.Met377Arg) c.*864T>G (n.*864T>G) c.857T>G (p.Met286Arg) | |
5 | g.151822917A>G | CA361850289 | GLRA1 | c.1106T>C (p.Met369Thr) c.1130T>C (p.Met377Thr) c.*864T>C (n.*864T>C) c.857T>C (p.Met286Thr) | gnomAD v4 |
5 | g.151822917A>T | CA361850290 | GLRA1 | c.1106T>A (p.Met369Lys) c.1130T>A (p.Met377Lys) c.*864T>A (n.*864T>A) c.857T>A (p.Met286Lys) | |
5 | g.151822918T>A | CA361850291 | GLRA1 | c.1105A>T (p.Met369Leu) c.1129A>T (p.Met377Leu) c.*863A>T (n.*863A>T) c.856A>T (p.Met286Leu) | |
5 | g.151822918T>C | CA361850292 | GLRA1 | c.1105A>G (p.Met369Val) c.1129A>G (p.Met377Val) c.*863A>G (n.*863A>G) c.856A>G (p.Met286Val) | |
5 | g.151822918T>G | CA361850293 | GLRA1 | c.1105A>C (p.Met369Leu) c.1129A>C (p.Met377Leu) c.*863A>C (n.*863A>C) c.856A>C (p.Met286Leu) | |
5 | g.151822919C>A | CA447226658 | GLRA1 | c.1104G>T (p.Gly368=) c.1128G>T (p.Gly376=) c.*862G>T (n.*862G>T) c.855G>T (p.Gly285=) | |
5 | g.151822919C= | CA1591565291 | GLRA1 | c.1104G= (p.Gly368=) c.1128G= (p.Gly376=) c.*862G= (n.*862G=) c.855G= (p.Gly285=) | |
5 | g.151822919C>G | CA447226659 | GLRA1 | c.1104G>C (p.Gly368=) c.1128G>C (p.Gly376=) c.*862G>C (n.*862G>C) c.855G>C (p.Gly285=) | dbSNP |
5 | g.151822919C>T | CA447226660 | GLRA1 | c.1104G>A (p.Gly368=) c.1128G>A (p.Gly376=) c.*862G>A (n.*862G>A) c.855G>A (p.Gly285=) | |
5 | g.151822920C>A | CA361850294 | GLRA1 | c.1103G>T (p.Gly368Val) c.1127G>T (p.Gly376Val) c.*861G>T (n.*861G>T) c.854G>T (p.Gly285Val) | |
5 | g.151822920C= | CA1591565292 | GLRA1 | c.1103G= (p.Gly368=) c.1127G= (p.Gly376=) c.*861G= (n.*861G=) c.854G= (p.Gly285=) | |
5 | g.151822920C>G | CA361850295 | GLRA1 | c.1103G>C (p.Gly368Ala) c.1127G>C (p.Gly376Ala) c.*861G>C (n.*861G>C) c.854G>C (p.Gly285Ala) | |
5 | g.151822920C>T | CA361850296 | GLRA1 | c.1103G>A (p.Gly368Glu) c.1127G>A (p.Gly376Glu) c.*861G>A (n.*861G>A) c.854G>A (p.Gly285Glu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151822921C>A | CA361850297 | GLRA1 | c.1102G>T (p.Gly368Trp) c.1126G>T (p.Gly376Trp) c.*860G>T (n.*860G>T) c.853G>T (p.Gly285Trp) | |
5 | g.151822921C>G | CA361850298 | GLRA1 | c.1102G>C (p.Gly368Arg) c.1126G>C (p.Gly376Arg) c.*860G>C (n.*860G>C) c.853G>C (p.Gly285Arg) | |
5 | g.151822921C>T | CA361850299 | GLRA1 | c.1102G>A (p.Gly368Arg) c.1126G>A (p.Gly376Arg) c.*860G>A (n.*860G>A) c.853G>A (p.Gly285Arg) | gnomAD v4 |
5 | g.151822922A= | CA1591565293 | GLRA1 | c.1101T= (p.Tyr367=) c.1125T= (p.Tyr375=) c.*859T= (n.*859T=) c.852T= (p.Tyr284=) | |
5 | g.151822922A>C | CA361850301 | GLRA1 | c.1101T>G (p.Tyr367Ter) c.1125T>G (p.Tyr375Ter) c.*859T>G (n.*859T>G) c.852T>G (p.Tyr284Ter) | |
5 | g.151822922A>G | CA3523508 | GLRA1 | c.1101T>C (p.Tyr367=) c.1125T>C (p.Tyr375=) c.*859T>C (n.*859T>C) c.852T>C (p.Tyr284=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.151822922A>T | CA361850300 | GLRA1 | c.1101T>A (p.Tyr367Ter) c.1125T>A (p.Tyr375Ter) c.*859T>A (n.*859T>A) c.852T>A (p.Tyr284Ter) | ClinVar dbSNP |
5 | g.151822923T>A | CA361850302 | GLRA1 | c.1100A>T (p.Tyr367Phe) c.1124A>T (p.Tyr375Phe) c.*858A>T (n.*858A>T) c.851A>T (p.Tyr284Phe) | |
5 | g.151822923T>C | CA361850303 | GLRA1 | c.1100A>G (p.Tyr367Cys) c.1124A>G (p.Tyr375Cys) c.*858A>G (n.*858A>G) c.851A>G (p.Tyr284Cys) | |
5 | g.151822923T>G | CA361850304 | GLRA1 | c.1100A>C (p.Tyr367Ser) c.1124A>C (p.Tyr375Ser) c.*858A>C (n.*858A>C) c.851A>C (p.Tyr284Ser) | |
5 | g.151822924A= | CA1591565294 | GLRA1 | c.1099T= (p.Tyr367=) c.1123T= (p.Tyr375=) c.*857T= (n.*857T=) c.850T= (p.Tyr284=) | |
5 | g.151822924A>C | CA361850305 | GLRA1 | c.1099T>G (p.Tyr367Asp) c.1123T>G (p.Tyr375Asp) c.*857T>G (n.*857T>G) c.850T>G (p.Tyr284Asp) | |
5 | g.151822924A>G | CA361850306 | GLRA1 | c.1099T>C (p.Tyr367His) c.1123T>C (p.Tyr375His) c.*857T>C (n.*857T>C) c.850T>C (p.Tyr284His) | dbSNP |
5 | g.151822924A>T | CA361850307 | GLRA1 | c.1099T>A (p.Tyr367Asn) c.1123T>A (p.Tyr375Asn) c.*857T>A (n.*857T>A) c.850T>A (p.Tyr284Asn) | |
5 | g.151822925G>A | CA447226661 | GLRA1 | c.1098C>T (p.Ala366=) c.1122C>T (p.Ala374=) c.*856C>T (n.*856C>T) c.849C>T (p.Ala283=) | dbSNP |
5 | g.151822925G>C | CA447226662 | GLRA1 | c.1098C>G (p.Ala366=) c.1122C>G (p.Ala374=) c.*856C>G (n.*856C>G) c.849C>G (p.Ala283=) | |
5 | g.151822925G= | CA1591565295 | GLRA1 | c.1098C= (p.Ala366=) c.1122C= (p.Ala374=) c.*856C= (n.*856C=) c.849C= (p.Ala283=) | |
5 | g.151822925G>T | CA447226663 | GLRA1 | c.1098C>A (p.Ala366=) c.1122C>A (p.Ala374=) c.*856C>A (n.*856C>A) c.849C>A (p.Ala283=) | |
5 | g.151822926G>A | CA361850308 | GLRA1 | c.1097C>T (p.Ala366Val) c.1121C>T (p.Ala374Val) c.*855C>T (n.*855C>T) c.848C>T (p.Ala283Val) | |
5 | g.151822926G>C | CA361850309 | GLRA1 | c.1097C>G (p.Ala366Gly) c.1121C>G (p.Ala374Gly) c.*855C>G (n.*855C>G) c.848C>G (p.Ala283Gly) | |
5 | g.151822926G= | CA1591565296 | GLRA1 | c.1097C= (p.Ala366=) c.1121C= (p.Ala374=) c.*855C= (n.*855C=) c.848C= (p.Ala283=) | |
5 | g.151822926G>T | CA3523509 | GLRA1 | c.1097C>A (p.Ala366Asp) c.1121C>A (p.Ala374Asp) c.*855C>A (n.*855C>A) c.848C>A (p.Ala283Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822927C>A | CA361850310 | GLRA1 | c.1096G>T (p.Ala366Ser) c.1120G>T (p.Ala374Ser) c.*854G>T (n.*854G>T) c.847G>T (p.Ala283Ser) | |
5 | g.151822927C>G | CA361850311 | GLRA1 | c.1096G>C (p.Ala366Pro) c.1120G>C (p.Ala374Pro) c.*854G>C (n.*854G>C) c.847G>C (p.Ala283Pro) | |
5 | g.151822927C>T | CA361850312 | GLRA1 | c.1096G>A (p.Ala366Thr) c.1120G>A (p.Ala374Thr) c.*854G>A (n.*854G>A) c.847G>A (p.Ala283Thr) | |
5 | g.151822928A>C | CA447226664 | GLRA1 | c.1095T>G (p.Ser365=) c.1119T>G (p.Ser373=) c.*853T>G (n.*853T>G) c.846T>G (p.Ser282=) | |
5 | g.151822928A>G | CA447226665 | GLRA1 | c.1095T>C (p.Ser365=) c.1119T>C (p.Ser373=) c.*853T>C (n.*853T>C) c.846T>C (p.Ser282=) | |
5 | g.151822928A>T | CA447226666 | GLRA1 | c.1095T>A (p.Ser365=) c.1119T>A (p.Ser373=) c.*853T>A (n.*853T>A) c.846T>A (p.Ser282=) | |
5 | g.151822929G>A | CA361850315 | GLRA1 | c.1094C>T (p.Ser365Phe) c.1118C>T (p.Ser373Phe) c.*852C>T (n.*852C>T) c.845C>T (p.Ser282Phe) | |
5 | g.151822929G>C | CA361850314 | GLRA1 | c.1094C>G (p.Ser365Cys) c.1118C>G (p.Ser373Cys) c.*852C>G (n.*852C>G) c.845C>G (p.Ser282Cys) | |
5 | g.151822929G>T | CA361850313 | GLRA1 | c.1094C>A (p.Ser365Tyr) c.1118C>A (p.Ser373Tyr) c.*852C>A (n.*852C>A) c.845C>A (p.Ser282Tyr) | |
5 | g.151822930A= | CA1591565297 | GLRA1 | c.1093T= (p.Ser365=) c.1117T= (p.Ser373=) c.*851T= (n.*851T=) c.844T= (p.Ser282=) | |
5 | g.151822930A>C | CA3523510 | GLRA1 | c.1093T>G (p.Ser365Ala) c.1117T>G (p.Ser373Ala) c.*851T>G (n.*851T>G) c.844T>G (p.Ser282Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822930A>G | CA361850316 | GLRA1 | c.1093T>C (p.Ser365Pro) c.1117T>C (p.Ser373Pro) c.*851T>C (n.*851T>C) c.844T>C (p.Ser282Pro) | |
5 | g.151822930A>T | CA361850317 | GLRA1 | c.1093T>A (p.Ser365Thr) c.1117T>A (p.Ser373Thr) c.*851T>A (n.*851T>A) c.844T>A (p.Ser282Thr) | |
5 | g.151822931G>A | CA447226667 | GLRA1 | c.1092C>T (p.Phe364=) c.1116C>T (p.Phe372=) c.*850C>T (n.*850C>T) c.843C>T (p.Phe281=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822931G>C | CA361850318 | GLRA1 | c.1092C>G (p.Phe364Leu) c.1116C>G (p.Phe372Leu) c.*850C>G (n.*850C>G) c.843C>G (p.Phe281Leu) | |
5 | g.151822931G= | CA1591565298 | GLRA1 | c.1092C= (p.Phe364=) c.1116C= (p.Phe372=) c.*850C= (n.*850C=) c.843C= (p.Phe281=) | |
5 | g.151822931G>T | CA361850319 | GLRA1 | c.1092C>A (p.Phe364Leu) c.1116C>A (p.Phe372Leu) c.*850C>A (n.*850C>A) c.843C>A (p.Phe281Leu) | |
5 | g.151822932A= | CA1591565299 | GLRA1 | c.1091T= (p.Phe364=) c.1115T= (p.Phe372=) c.*849T= (n.*849T=) c.842T= (p.Phe281=) | |
5 | g.151822932A>C | CA361850320 | GLRA1 | c.1091T>G (p.Phe364Cys) c.1115T>G (p.Phe372Cys) c.*849T>G (n.*849T>G) c.842T>G (p.Phe281Cys) | |
5 | g.151822932A>G | CA361850321 | GLRA1 | c.1091T>C (p.Phe364Ser) c.1115T>C (p.Phe372Ser) c.*849T>C (n.*849T>C) c.842T>C (p.Phe281Ser) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822932A>T | CA361850322 | GLRA1 | c.1091T>A (p.Phe364Tyr) c.1115T>A (p.Phe372Tyr) c.*849T>A (n.*849T>A) c.842T>A (p.Phe281Tyr) | |
5 | g.151822933A>C | CA361850323 | GLRA1 | c.1090T>G (p.Phe364Val) c.1114T>G (p.Phe372Val) c.*848T>G (n.*848T>G) c.841T>G (p.Phe281Val) | |
5 | g.151822933A>G | CA361850324 | GLRA1 | c.1090T>C (p.Phe364Leu) c.1114T>C (p.Phe372Leu) c.*848T>C (n.*848T>C) c.841T>C (p.Phe281Leu) | |
5 | g.151822933A>T | CA361850325 | GLRA1 | c.1090T>A (p.Phe364Ile) c.1114T>A (p.Phe372Ile) c.*848T>A (n.*848T>A) c.841T>A (p.Phe281Ile) | |
5 | g.151822934G>A | CA447226670 | GLRA1 | c.1089C>T (p.Asn363=) c.1113C>T (p.Asn371=) c.*847C>T (n.*847C>T) c.840C>T (p.Asn280=) | dbSNP |
5 | g.151822934G>C | CA361850326 | GLRA1 | c.1089C>G (p.Asn363Lys) c.1113C>G (p.Asn371Lys) c.*847C>G (n.*847C>G) c.840C>G (p.Asn280Lys) | |
5 | g.151822934G= | CA1591565300 | GLRA1 | c.1089C= (p.Asn363=) c.1113C= (p.Asn371=) c.*847C= (n.*847C=) c.840C= (p.Asn280=) | |
5 | g.151822934G>T | CA361850327 | GLRA1 | c.1089C>A (p.Asn363Lys) c.1113C>A (p.Asn371Lys) c.*847C>A (n.*847C>A) c.840C>A (p.Asn280Lys) | |
5 | g.151822935T>A | CA361850329 | GLRA1 | c.1088A>T (p.Asn363Ile) c.1112A>T (p.Asn371Ile) c.*846A>T (n.*846A>T) c.839A>T (p.Asn280Ile) | |
5 | g.151822935T>C | CA361850328 | GLRA1 | c.1088A>G (p.Asn363Ser) c.1112A>G (p.Asn371Ser) c.*846A>G (n.*846A>G) c.839A>G (p.Asn280Ser) | |
5 | g.151822935T>G | CA130006426 | GLRA1 | c.1088A>C (p.Asn363Thr) c.1112A>C (p.Asn371Thr) c.*846A>C (n.*846A>C) c.839A>C (p.Asn280Thr) | dbSNP |
5 | g.151822935T= | CA1591565301 | GLRA1 | c.1088A= (p.Asn363=) c.1112A= (p.Asn371=) c.*846A= (n.*846A=) c.839A= (p.Asn280=) | |
5 | g.151822936T>A | CA361850330 | GLRA1 | c.1087A>T (p.Asn363Tyr) c.1111A>T (p.Asn371Tyr) c.*845A>T (n.*845A>T) c.838A>T (p.Asn280Tyr) | |
5 | g.151822936T>C | CA361850331 | GLRA1 | c.1087A>G (p.Asn363Asp) c.1111A>G (p.Asn371Asp) c.*845A>G (n.*845A>G) c.838A>G (p.Asn280Asp) | |
5 | g.151822936T>G | CA361850332 | GLRA1 | c.1087A>C (p.Asn363His) c.1111A>C (p.Asn371His) c.*845A>C (n.*845A>C) c.838A>C (p.Asn280His) | |
5 | g.151822937A>C | CA361850333 | GLRA1 | c.1086T>G (p.Phe362Leu) c.1110T>G (p.Phe370Leu) c.*844T>G (n.*844T>G) c.837T>G (p.Phe279Leu) | |
5 | g.151822937A>G | CA447226671 | GLRA1 | c.1086T>C (p.Phe362=) c.1110T>C (p.Phe370=) c.*844T>C (n.*844T>C) c.837T>C (p.Phe279=) | |
5 | g.151822937A>T | CA361850334 | GLRA1 | c.1086T>A (p.Phe362Leu) c.1110T>A (p.Phe370Leu) c.*844T>A (n.*844T>A) c.837T>A (p.Phe279Leu) | |
5 | g.151822938A>C | CA361850335 | GLRA1 | c.1085T>G (p.Phe362Cys) c.1109T>G (p.Phe370Cys) c.*843T>G (n.*843T>G) c.836T>G (p.Phe279Cys) | |
5 | g.151822938A>G | CA361850336 | GLRA1 | c.1085T>C (p.Phe362Ser) c.1109T>C (p.Phe370Ser) c.*843T>C (n.*843T>C) c.836T>C (p.Phe279Ser) | gnomAD v4 |
5 | g.151822938A>T | CA361850337 | GLRA1 | c.1085T>A (p.Phe362Tyr) c.1109T>A (p.Phe370Tyr) c.*843T>A (n.*843T>A) c.836T>A (p.Phe279Tyr) | |
5 | g.151822939A>C | CA361850338 | GLRA1 | c.1084T>G (p.Phe362Val) c.1108T>G (p.Phe370Val) c.*842T>G (n.*842T>G) c.835T>G (p.Phe279Val) | |
5 | g.151822939A>G | CA361850339 | GLRA1 | c.1084T>C (p.Phe362Leu) c.1108T>C (p.Phe370Leu) c.*842T>C (n.*842T>C) c.835T>C (p.Phe279Leu) | |
5 | g.151822939A>T | CA361850340 | GLRA1 | c.1084T>A (p.Phe362Ile) c.1108T>A (p.Phe370Ile) c.*842T>A (n.*842T>A) c.835T>A (p.Phe279Ile) | |
5 | g.151822940G>A | CA447226672 | GLRA1 | c.1083C>T (p.Arg361=) c.1107C>T (p.Arg369=) c.*841C>T (n.*841C>T) c.834C>T (p.Arg278=) | |
5 | g.151822940G>C | CA447226673 | GLRA1 | c.1083C>G (p.Arg361=) c.1107C>G (p.Arg369=) c.*841C>G (n.*841C>G) c.834C>G (p.Arg278=) | |
5 | g.151822940G>T | CA447226674 | GLRA1 | c.1083C>A (p.Arg361=) c.1107C>A (p.Arg369=) c.*841C>A (n.*841C>A) c.834C>A (p.Arg278=) | |
5 | g.151822941C>A | CA3523512 | GLRA1 | c.1082G>T (p.Arg361Leu) c.1106G>T (p.Arg369Leu) c.*840G>T (n.*840G>T) c.833G>T (p.Arg278Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822941C= | CA1591565302 | GLRA1 | c.1082G= (p.Arg361=) c.1106G= (p.Arg369=) c.*840G= (n.*840G=) c.833G= (p.Arg278=) | |
5 | g.151822941C>G | CA361850341 | GLRA1 | c.1082G>C (p.Arg361Pro) c.1106G>C (p.Arg369Pro) c.*840G>C (n.*840G>C) c.833G>C (p.Arg278Pro) | |
5 | g.151822941C>T | CA3523511 | GLRA1 | c.1082G>A (p.Arg361His) c.1106G>A (p.Arg369His) c.*840G>A (n.*840G>A) c.833G>A (p.Arg278His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.151822942G>A | CA3523513 | GLRA1 | c.1081C>T (p.Arg361Cys) c.1105C>T (p.Arg369Cys) c.*839C>T (n.*839C>T) c.832C>T (p.Arg278Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822942G>C | CA361850343 | GLRA1 | c.1081C>G (p.Arg361Gly) c.1105C>G (p.Arg369Gly) c.*839C>G (n.*839C>G) c.832C>G (p.Arg278Gly) | |
5 | g.151822942G= | CA1591565303 | GLRA1 | c.1081C= (p.Arg361=) c.1105C= (p.Arg369=) c.*839C= (n.*839C=) c.832C= (p.Arg278=) | |
5 | g.151822942G>T | CA361850342 | GLRA1 | c.1081C>A (p.Arg361Ser) c.1105C>A (p.Arg369Ser) c.*839C>A (n.*839C>A) c.832C>A (p.Arg278Ser) | gnomAD v4 |
5 | g.151822943G>A | CA447226675 | GLRA1 | c.1080C>T (p.Gly360=) c.1104C>T (p.Gly368=) c.*838C>T (n.*838C>T) c.831C>T (p.Gly277=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.151822943G>C | CA447226676 | GLRA1 | c.1080C>G (p.Gly360=) c.1104C>G (p.Gly368=) c.*838C>G (n.*838C>G) c.831C>G (p.Gly277=) | |
5 | g.151822943G= | CA1591565304 | GLRA1 | c.1080C= (p.Gly360=) c.1104C= (p.Gly368=) c.*838C= (n.*838C=) c.831C= (p.Gly277=) | |
5 | g.151822943G>T | CA447226677 | GLRA1 | c.1080C>A (p.Gly360=) c.1104C>A (p.Gly368=) c.*838C>A (n.*838C>A) c.831C>A (p.Gly277=) | gnomAD v4 COSMIC |
5 | g.151822944C>A | CA361850344 | GLRA1 | c.1079G>T (p.Gly360Val) c.1103G>T (p.Gly368Val) c.*837G>T (n.*837G>T) c.830G>T (p.Gly277Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822944C= | CA1591565305 | GLRA1 | c.1079G= (p.Gly360=) c.1103G= (p.Gly368=) c.*837G= (n.*837G=) c.830G= (p.Gly277=) | |
5 | g.151822944C>G | CA361850345 | GLRA1 | c.1079G>C (p.Gly360Ala) c.1103G>C (p.Gly368Ala) c.*837G>C (n.*837G>C) c.830G>C (p.Gly277Ala) | |
5 | g.151822944C>T | CA361850346 | GLRA1 | c.1079G>A (p.Gly360Asp) c.1103G>A (p.Gly368Asp) c.*837G>A (n.*837G>A) c.830G>A (p.Gly277Asp) | |
5 | g.151822945C>A | CA361850347 | GLRA1 | c.1078G>T (p.Gly360Cys) c.1102G>T (p.Gly368Cys) c.*836G>T (n.*836G>T) c.829G>T (p.Gly277Cys) | |
5 | g.151822945C>G | CA361850348 | GLRA1 | c.1078G>C (p.Gly360Arg) c.1102G>C (p.Gly368Arg) c.*836G>C (n.*836G>C) c.829G>C (p.Gly277Arg) | |
5 | g.151822945C>T | CA361850349 | GLRA1 | c.1078G>A (p.Gly360Ser) c.1102G>A (p.Gly368Ser) c.*836G>A (n.*836G>A) c.829G>A (p.Gly277Ser) | COSMIC |
5 | g.151822946T>A | CA361850350 | GLRA1 | c.1077A>T (p.Glu359Asp) c.1101A>T (p.Glu367Asp) c.*835A>T (n.*835A>T) c.828A>T (p.Glu276Asp) | |
5 | g.151822946T>C | CA447226678 | GLRA1 | c.1077A>G (p.Glu359=) c.1101A>G (p.Glu367=) c.*835A>G (n.*835A>G) c.828A>G (p.Glu276=) | |
5 | g.151822946T>G | CA361850351 | GLRA1 | c.1077A>C (p.Glu359Asp) c.1101A>C (p.Glu367Asp) c.*835A>C (n.*835A>C) c.828A>C (p.Glu276Asp) | |
5 | g.151822947T>A | CA361850352 | GLRA1 | c.1076A>T (p.Glu359Val) c.1100A>T (p.Glu367Val) c.*834A>T (n.*834A>T) c.827A>T (p.Glu276Val) | |
5 | g.151822947T>C | CA361850353 | GLRA1 | c.1076A>G (p.Glu359Gly) c.1100A>G (p.Glu367Gly) c.*834A>G (n.*834A>G) c.827A>G (p.Glu276Gly) | |
5 | g.151822947T>G | CA361850354 | GLRA1 | c.1076A>C (p.Glu359Ala) c.1100A>C (p.Glu367Ala) c.*834A>C (n.*834A>C) c.827A>C (p.Glu276Ala) | |
5 | g.151822948C>A | CA361850357 | GLRA1 | c.1075G>T (p.Glu359Ter) c.1099G>T (p.Glu367Ter) c.*833G>T (n.*833G>T) c.826G>T (p.Glu276Ter) | |
5 | g.151822948C>G | CA361850356 | GLRA1 | c.1075G>C (p.Glu359Gln) c.1099G>C (p.Glu367Gln) c.*833G>C (n.*833G>C) c.826G>C (p.Glu276Gln) | |
5 | g.151822948C>T | CA361850355 | GLRA1 | c.1075G>A (p.Glu359Lys) c.1099G>A (p.Glu367Lys) c.*833G>A (n.*833G>A) c.826G>A (p.Glu276Lys) | |
5 | g.151822949T>A | CA447226679 | GLRA1 | c.1074A>T (p.Gly358=) c.1098A>T (p.Gly366=) c.*832A>T (n.*832A>T) c.825A>T (p.Gly275=) | |
5 | g.151822949T>C | CA3523514 | GLRA1 | c.1074A>G (p.Gly358=) c.1098A>G (p.Gly366=) c.*832A>G (n.*832A>G) c.825A>G (p.Gly275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822949T>G | CA447226680 | GLRA1 | c.1074A>C (p.Gly358=) c.1098A>C (p.Gly366=) c.*832A>C (n.*832A>C) c.825A>C (p.Gly275=) | |
5 | g.151822949T= | CA1591565306 | GLRA1 | c.1074A= (p.Gly358=) c.1098A= (p.Gly366=) c.*832A= (n.*832A=) c.825A= (p.Gly275=) | |
5 | g.151822950C>A | CA361850358 | GLRA1 | c.1073G>T (p.Gly358Val) c.1097G>T (p.Gly366Val) c.*831G>T (n.*831G>T) c.824G>T (p.Gly275Val) | dbSNP gnomAD v4 |
5 | g.151822950C= | CA1591565307 | GLRA1 | c.1073G= (p.Gly358=) c.1097G= (p.Gly366=) c.*831G= (n.*831G=) c.824G= (p.Gly275=) | |
5 | g.151822950C>G | CA361850359 | GLRA1 | c.1073G>C (p.Gly358Ala) c.1097G>C (p.Gly366Ala) c.*831G>C (n.*831G>C) c.824G>C (p.Gly275Ala) | COSMIC |
5 | g.151822950C>T | CA361850360 | GLRA1 | c.1073G>A (p.Gly358Glu) c.1097G>A (p.Gly366Glu) c.*831G>A (n.*831G>A) c.824G>A (p.Gly275Glu) | ClinVar gnomAD v4 |
5 | g.151822950_151822951insTA | CA2676108192 | GLRA1 | c.1072_1073insTA (p.Gly358ValfsTer?) c.1096_1097insTA (p.Gly366ValfsTer?) c.*830_*831insTA (n.*830_*831insTA) c.823_824insTA (p.Gly275ValfsTer?) | gnomAD v4 |
5 | g.151822951C>A | CA361850361 | GLRA1 | c.1072G>T (p.Gly358Ter) c.1096G>T (p.Gly366Ter) c.*830G>T (n.*830G>T) c.823G>T (p.Gly275Ter) | |
5 | g.151822951C= | CA1591565308 | GLRA1 | c.1072G= (p.Gly358=) c.1096G= (p.Gly366=) c.*830G= (n.*830G=) c.823G= (p.Gly275=) | |
5 | g.151822951C>G | CA361850362 | GLRA1 | c.1072G>C (p.Gly358Arg) c.1096G>C (p.Gly366Arg) c.*830G>C (n.*830G>C) c.823G>C (p.Gly275Arg) | gnomAD v4 |
5 | g.151822951C>T | CA3523515 | GLRA1 | c.1072G>A (p.Gly358Arg) c.1096G>A (p.Gly366Arg) c.*830G>A (n.*830G>A) c.823G>A (p.Gly275Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822952A>C | CA447226681 | GLRA1 | c.1071T>G (p.Ala357=) c.1095T>G (p.Ala365=) c.*829T>G (n.*829T>G) c.822T>G (p.Ala274=) | |
5 | g.151822952A>G | CA447226682 | GLRA1 | c.1071T>C (p.Ala357=) c.1095T>C (p.Ala365=) c.*829T>C (n.*829T>C) c.822T>C (p.Ala274=) | |
5 | g.151822952A>T | CA447226683 | GLRA1 | c.1071T>A (p.Ala357=) c.1095T>A (p.Ala365=) c.*829T>A (n.*829T>A) c.822T>A (p.Ala274=) | |
5 | g.151822953G>A | CA361850363 | GLRA1 | c.1070C>T (p.Ala357Val) c.1094C>T (p.Ala365Val) c.*828C>T (n.*828C>T) c.821C>T (p.Ala274Val) | |
5 | g.151822953G>C | CA3523516 | GLRA1 | c.1070C>G (p.Ala357Gly) c.1094C>G (p.Ala365Gly) c.*828C>G (n.*828C>G) c.821C>G (p.Ala274Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822953G= | CA1591565309 | GLRA1 | c.1070C= (p.Ala357=) c.1094C= (p.Ala365=) c.*828C= (n.*828C=) c.821C= (p.Ala274=) | |
5 | g.151822953G>T | CA361850364 | GLRA1 | c.1070C>A (p.Ala357Asp) c.1094C>A (p.Ala365Asp) c.*828C>A (n.*828C>A) c.821C>A (p.Ala274Asp) | |
5 | g.151822954C>A | CA361850365 | GLRA1 | c.1069G>T (p.Ala357Ser) c.1093G>T (p.Ala365Ser) c.*827G>T (n.*827G>T) c.820G>T (p.Ala274Ser) | |
5 | g.151822954C= | CA1591565310 | GLRA1 | c.1069G= (p.Ala357=) c.1093G= (p.Ala365=) c.*827G= (n.*827G=) c.820G= (p.Ala274=) | |
5 | g.151822954C>G | CA361850366 | GLRA1 | c.1069G>C (p.Ala357Pro) c.1093G>C (p.Ala365Pro) c.*827G>C (n.*827G>C) c.820G>C (p.Ala274Pro) | |
5 | g.151822954C>T | CA361850367 | GLRA1 | c.1069G>A (p.Ala357Thr) c.1093G>A (p.Ala365Thr) c.*827G>A (n.*827G>A) c.820G>A (p.Ala274Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822955T>A | CA361850368 | GLRA1 | c.1068A>T (p.Glu356Asp) c.1092A>T (p.Glu364Asp) c.*826A>T (n.*826A>T) c.819A>T (p.Glu273Asp) | |
5 | g.151822955T>C | CA447226684 | GLRA1 | c.1068A>G (p.Glu356=) c.1092A>G (p.Glu364=) c.*826A>G (n.*826A>G) c.819A>G (p.Glu273=) | |
5 | g.151822955T>G | CA361850369 | GLRA1 | c.1068A>C (p.Glu356Asp) c.1092A>C (p.Glu364Asp) c.*826A>C (n.*826A>C) c.819A>C (p.Glu273Asp) | |
5 | g.151822956T>A | CA361850370 | GLRA1 | c.1067A>T (p.Glu356Val) c.1091A>T (p.Glu364Val) c.*825A>T (n.*825A>T) c.818A>T (p.Glu273Val) | |
5 | g.151822956T>C | CA361850371 | GLRA1 | c.1067A>G (p.Glu356Gly) c.1091A>G (p.Glu364Gly) c.*825A>G (n.*825A>G) c.818A>G (p.Glu273Gly) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822956T>G | CA361850372 | GLRA1 | c.1067A>C (p.Glu356Ala) c.1091A>C (p.Glu364Ala) c.*825A>C (n.*825A>C) c.818A>C (p.Glu273Ala) | |
5 | g.151822956T= | CA1591565311 | GLRA1 | c.1067A= (p.Glu356=) c.1091A= (p.Glu364=) c.*825A= (n.*825A=) c.818A= (p.Glu273=) | |
5 | g.151822957C>A | CA361850373 | GLRA1 | c.1066G>T (p.Glu356Ter) c.1090G>T (p.Glu364Ter) c.*824G>T (n.*824G>T) c.817G>T (p.Glu273Ter) | |
5 | g.151822957C>G | CA361850374 | GLRA1 | c.1066G>C (p.Glu356Gln) c.1090G>C (p.Glu364Gln) c.*824G>C (n.*824G>C) c.817G>C (p.Glu273Gln) | |
5 | g.151822957C>T | CA361850375 | GLRA1 | c.1066G>A (p.Glu356Lys) c.1090G>A (p.Glu364Lys) c.*824G>A (n.*824G>A) c.817G>A (p.Glu273Lys) | |
5 | g.151822958A>C | CA361850376 | GLRA1 | c.1065T>G (p.Asp355Glu) c.1089T>G (p.Asp363Glu) c.*823T>G (n.*823T>G) c.816T>G (p.Asp272Glu) | |
5 | g.151822958A>G | CA447226685 | GLRA1 | c.1065T>C (p.Asp355=) c.1089T>C (p.Asp363=) c.*823T>C (n.*823T>C) c.816T>C (p.Asp272=) | |
5 | g.151822958A>T | CA361850377 | GLRA1 | c.1065T>A (p.Asp355Glu) c.1089T>A (p.Asp363Glu) c.*823T>A (n.*823T>A) c.816T>A (p.Asp272Glu) | |
5 | g.151822959T>A | CA361850378 | GLRA1 | c.1064A>T (p.Asp355Val) c.1088A>T (p.Asp363Val) c.*822A>T (n.*822A>T) c.815A>T (p.Asp272Val) | |
5 | g.151822959T>C | CA361850379 | GLRA1 | c.1064A>G (p.Asp355Gly) c.1088A>G (p.Asp363Gly) c.*822A>G (n.*822A>G) c.815A>G (p.Asp272Gly) | ClinVar dbSNP gnomAD v4 |
5 | g.151822959T>G | CA361850380 | GLRA1 | c.1064A>C (p.Asp355Ala) c.1088A>C (p.Asp363Ala) c.*822A>C (n.*822A>C) c.815A>C (p.Asp272Ala) | |
5 | g.151822959T= | CA1591565312 | GLRA1 | c.1064A= (p.Asp355=) c.1088A= (p.Asp363=) c.*822A= (n.*822A=) c.815A= (p.Asp272=) | |
5 | g.151822963_151822965del | CA2555484109 | GLRA1 | c.1062_1064del c.1086_1088del (p.Glu362del) c.*820_*822del c.813_815del | |
5 | g.151822960C>A | CA361850381 | GLRA1 | c.1063G>T (p.Asp355Tyr) c.1087G>T (p.Asp363Tyr) c.*821G>T (n.*821G>T) c.814G>T (p.Asp272Tyr) | |
5 | g.151822960C>G | CA361850382 | GLRA1 | c.1063G>C (p.Asp355His) c.1087G>C (p.Asp363His) c.*821G>C (n.*821G>C) c.814G>C (p.Asp272His) | |
5 | g.151822960C>T | CA361850383 | GLRA1 | c.1063G>A (p.Asp355Asn) c.1087G>A (p.Asp363Asn) c.*821G>A (n.*821G>A) c.814G>A (p.Asp272Asn) | gnomAD v4 |
5 | g.151822961C>A | CA361850384 | GLRA1 | c.1062G>T (p.Glu354Asp) c.1086G>T (p.Glu362Asp) c.*820G>T (n.*820G>T) c.813G>T (p.Glu271Asp) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822961C= | CA1591565313 | GLRA1 | c.1062G= (p.Glu354=) c.1086G= (p.Glu362=) c.*820G= (n.*820G=) c.813G= (p.Glu271=) | |
5 | g.151822961C>G | CA361850385 | GLRA1 | c.1062G>C (p.Glu354Asp) c.1086G>C (p.Glu362Asp) c.*820G>C (n.*820G>C) c.813G>C (p.Glu271Asp) | |
5 | g.151822961C>T | CA447226686 | GLRA1 | c.1062G>A (p.Glu354=) c.1086G>A (p.Glu362=) c.*820G>A (n.*820G>A) c.813G>A (p.Glu271=) | |
5 | g.151822962T>A | CA361850386 | GLRA1 | c.1061A>T (p.Glu354Val) c.1085A>T (p.Glu362Val) c.*819A>T (n.*819A>T) c.812A>T (p.Glu271Val) | |
5 | g.151822962T>C | CA361850387 | GLRA1 | c.1061A>G (p.Glu354Gly) c.1085A>G (p.Glu362Gly) c.*819A>G (n.*819A>G) c.812A>G (p.Glu271Gly) | |
5 | g.151822962T>G | CA361850388 | GLRA1 | c.1061A>C (p.Glu354Ala) c.1085A>C (p.Glu362Ala) c.*819A>C (n.*819A>C) c.812A>C (p.Glu271Ala) | |
5 | g.151822963C>A | CA361850389 | GLRA1 | c.1060G>T (p.Glu354Ter) c.1084G>T (p.Glu362Ter) c.*818G>T (n.*818G>T) c.811G>T (p.Glu271Ter) | |
5 | g.151822963C= | CA1591565314 | GLRA1 | c.1060G= (p.Glu354=) c.1084G= (p.Glu362=) c.*818G= (n.*818G=) c.811G= (p.Glu271=) | |
5 | g.151822963C>G | CA361850390 | GLRA1 | c.1060G>C (p.Glu354Gln) c.1084G>C (p.Glu362Gln) c.*818G>C (n.*818G>C) c.811G>C (p.Glu271Gln) | |
5 | g.151822963C>T | CA361850391 | GLRA1 | c.1060G>A (p.Glu354Lys) c.1084G>A (p.Glu362Lys) c.*818G>A (n.*818G>A) c.811G>A (p.Glu271Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.151822964C>A | CA361850392 | GLRA1 | c.1060-1G>T (n.1060-1G>T) c.1083G>T (p.Gln361His) c.*818-1G>T (n.*818-1G>T) c.811-1G>T (n.811-1G>T) | |
5 | g.151822964C>G | CA361850393 | GLRA1 | c.1060-1G>C (n.1060-1G>C) c.1083G>C (p.Gln361His) c.*818-1G>C (n.*818-1G>C) c.811-1G>C (n.811-1G>C) | |
5 | g.151822964C>T | CA361850394 | GLRA1 | c.1060-1G>A (n.1060-1G>A) c.1083G>A (p.Gln361=) c.*818-1G>A (n.*818-1G>A) c.811-1G>A (n.811-1G>A) | |
5 | g.151822965T>A | CA361850395 | GLRA1 | c.1060-2A>T (n.1060-2A>T) c.1082A>T (p.Gln361Leu) c.*818-2A>T (n.*818-2A>T) c.811-2A>T (n.811-2A>T) | |
5 | g.151822965T>C | CA361850396 | GLRA1 | c.1060-2A>G (n.1060-2A>G) c.1082A>G (p.Gln361Arg) c.*818-2A>G (n.*818-2A>G) c.811-2A>G (n.811-2A>G) | |
5 | g.151822965T>G | CA361850397 | GLRA1 | c.1060-2A>C (n.1060-2A>C) c.1082A>C (p.Gln361Pro) c.*818-2A>C (n.*818-2A>C) c.811-2A>C (n.811-2A>C) | |
5 | g.151822966G>A | CA361850400 | GLRA1 | c.1060-3C>T (n.1060-3C>T) c.1081C>T (p.Gln361Ter) c.*818-3C>T (n.*818-3C>T) c.811-3C>T (n.811-3C>T) | |
5 | g.151822966G>C | CA361850399 | GLRA1 | c.1060-3C>G (n.1060-3C>G) c.1081C>G (p.Gln361Glu) c.*818-3C>G (n.*818-3C>G) c.811-3C>G (n.811-3C>G) | gnomAD v4 |
5 | g.151822966G= | CA1591565315 | GLRA1 | c.1060-3C= (n.1060-3C=) c.1081C= (p.Gln361=) c.*818-3C= (n.*818-3C=) c.811-3C= (n.811-3C=) | |
5 | g.151822966G>T | CA361850398 | GLRA1 | c.1060-3C>A (n.1060-3C>A) c.1081C>A (p.Gln361Lys) c.*818-3C>A (n.*818-3C>A) c.811-3C>A (n.811-3C>A) | gnomAD v4 |
5 | g.151822966_151822967insCACCATCTAAGTCCCCA | CA1591565316 | GLRA1 | c.1060-4_1060-3insTGGGGACTTAGATGGTG (n.1060-4_1060-3insTGGGGACTTAGATGGTG) c.1080_1081insTGGGGACTTAGATGGTG (p.Gln361TrpfsTer?) c.*818-4_*818-3insTGGGGACTTAGATGGTG (n.*818-4_*818-3insTGGGGACTTAGATGGTG) c.811-4_811-3insTGGGGACTTAGATGGTG (n.811-4_811-3insTGGGGACTTAGATGGTG) | dbSNP |
5 | g.151822967G>A | CA447226687 | GLRA1 | c.1060-4C>T (n.1060-4C>T) c.1080C>T (p.Phe360=) c.*818-4C>T (n.*818-4C>T) c.811-4C>T (n.811-4C>T) | |
5 | g.151822967G>C | CA361850401 | GLRA1 | c.1060-4C>G (n.1060-4C>G) c.1080C>G (p.Phe360Leu) c.*818-4C>G (n.*818-4C>G) c.811-4C>G (n.811-4C>G) | |
5 | g.151822967G= | CA1591565317 | GLRA1 | c.1060-4C= (n.1060-4C=) c.1080C= (p.Phe360=) c.*818-4C= (n.*818-4C=) c.811-4C= (n.811-4C=) | |
5 | g.151822967G>T | CA361850402 | GLRA1 | c.1060-4C>A (n.1060-4C>A) c.1080C>A (p.Phe360Leu) c.*818-4C>A (n.*818-4C>A) c.811-4C>A (n.811-4C>A) | ClinVar dbSNP |
5 | g.151822968A= | CA1591565318 | GLRA1 | c.1060-5T= (n.1060-5T=) c.1079T= (p.Phe360=) c.*818-5T= (n.*818-5T=) c.811-5T= (n.811-5T=) | |
5 | g.151822968A>C | CA361850403 | GLRA1 | c.1060-5T>G (n.1060-5T>G) c.1079T>G (p.Phe360Cys) c.*818-5T>G (n.*818-5T>G) c.811-5T>G (n.811-5T>G) | |
5 | g.151822968A>G | CA361850405 | GLRA1 | c.1060-5T>C (n.1060-5T>C) c.1079T>C (p.Phe360Ser) c.*818-5T>C (n.*818-5T>C) c.811-5T>C (n.811-5T>C) | |
5 | g.151822968A>T | CA361850404 | GLRA1 | c.1060-5T>A (n.1060-5T>A) c.1079T>A (p.Phe360Tyr) c.*818-5T>A (n.*818-5T>A) c.811-5T>A (n.811-5T>A) | |
5 | g.151822968_151822969insGGAG | CA1591565319 | GLRA1 | c.1060-6_1060-5insCTCC (n.1060-6_1060-5insCTCC) c.1078_1079insCTCC (p.Phe360SerfsTer6) c.*818-6_*818-5insCTCC (n.*818-6_*818-5insCTCC) c.811-6_811-5insCTCC (n.811-6_811-5insCTCC) | dbSNP |
5 | g.151822969A= | CA1591565320 | GLRA1 | c.1060-6T= (n.1060-6T=) c.1078T= (p.Phe360=) c.*818-6T= (n.*818-6T=) c.811-6T= (n.811-6T=) | |
5 | g.151822969A>C | CA361850406 | GLRA1 | c.1060-6T>G (n.1060-6T>G) c.1078T>G (p.Phe360Val) c.*818-6T>G (n.*818-6T>G) c.811-6T>G (n.811-6T>G) | |
5 | g.151822969A>G | CA3523517 | GLRA1 | c.1060-6T>C (n.1060-6T>C) c.1078T>C (p.Phe360Leu) c.*818-6T>C (n.*818-6T>C) c.811-6T>C (n.811-6T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822969A>T | CA361850407 | GLRA1 | c.1060-6T>A (n.1060-6T>A) c.1078T>A (p.Phe360Ile) c.*818-6T>A (n.*818-6T>A) c.811-6T>A (n.811-6T>A) | |
5 | g.151822970T>A | CA447226688 | GLRA1 | c.1060-7A>T (n.1060-7A>T) c.1077A>T (p.Leu359=) c.*818-7A>T (n.*818-7A>T) c.811-7A>T (n.811-7A>T) | |
5 | g.151822970T>C | CA447226689 | GLRA1 | c.1060-7A>G (n.1060-7A>G) c.1077A>G (p.Leu359=) c.*818-7A>G (n.*818-7A>G) c.811-7A>G (n.811-7A>G) | gnomAD v4 |
5 | g.151822970T>G | CA447226690 | GLRA1 | c.1060-7A>C (n.1060-7A>C) c.1077A>C (p.Leu359=) c.*818-7A>C (n.*818-7A>C) c.811-7A>C (n.811-7A>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151822970T= | CA1591565321 | GLRA1 | c.1060-7A= (n.1060-7A=) c.1077A= (p.Leu359=) c.*818-7A= (n.*818-7A=) c.811-7A= (n.811-7A=) |