| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.151822590T>C | CA2676107363 | GLRA1 | c.*83A>G (n.*83A>G) | gnomAD v4 |
| 5 | g.151822591C>A | CA2676107365 | GLRA1 | c.*82G>T (n.*82G>T) | gnomAD v4 |
| 5 | g.151822591C>T | CA2676107364 | GLRA1 | c.*82G>A (n.*82G>A) | gnomAD v4 |
| 5 | g.151822592C>A | CA2676107366 | GLRA1 | c.*81G>T (n.*81G>T) | gnomAD v4 |
| 5 | g.151822594C>A | CA2676107367 | GLRA1 | c.*79G>T (n.*79G>T) | gnomAD v4 |
| 5 | g.151822598_151822602del | CA2563473295 | GLRA1 | c.*75_*79del (n.*75_*79del) | gnomAD v4 |
| 5 | g.151822595T>C | CA2676107368 | GLRA1 | c.*78A>G (n.*78A>G) | gnomAD v4 |
| 5 | g.151822596T>G | CA130005974 | GLRA1 | c.*77A>C (n.*77A>C) | dbSNP gnomAD v4 |
| 5 | g.151822596T= | CA1591565133 | GLRA1 | c.*77A= (n.*77A=) | |
| 5 | g.151822597C>A | CA2676107369 | GLRA1 | c.*76G>T (n.*76G>T) | gnomAD v4 |
| 5 | g.151822597C= | CA1591565134 | GLRA1 | c.*76G= (n.*76G=) | |
| 5 | g.151822597C>T | CA1591565135 | GLRA1 | c.*76G>A (n.*76G>A) | dbSNP |
| 5 | g.151822599C>A | CA2676107371 | GLRA1 | c.*74G>T (n.*74G>T) | gnomAD v4 |
| 5 | g.151822602_151822605del | CA2676107370 | GLRA1 | c.*71_*74del (n.*71_*74del) | gnomAD v4 |
| 5 | g.151822600T>C | CA2578460252 | GLRA1 | c.*73A>G (n.*73A>G) | gnomAD v4 |
| 5 | g.151822605T>C | CA2676107372 | GLRA1 | c.*68A>G (n.*68A>G) | gnomAD v4 |
| 5 | g.151822605T>G | CA915224898 | GLRA1 | c.*68A>C (n.*68A>C) | gnomAD v2 gnomAD v4 |
| 5 | g.151822606A>G | CA2578460253 | GLRA1 | c.*67T>C (n.*67T>C) | |
| 5 | g.151822606A>T | CA2676107373 | GLRA1 | c.*67T>A (n.*67T>A) | gnomAD v4 |
| 5 | g.151822607G>T | CA2676107374 | GLRA1 | c.*66C>A (n.*66C>A) | gnomAD v4 |
| 5 | g.151822612_151822613del | CA2578460254 | GLRA1 | c.*64_*65del (n.*64_*65del) | gnomAD v4 |
| 5 | g.151822609C>A | CA2676107375 | GLRA1 | c.*64G>T (n.*64G>T) | gnomAD v4 |
| 5 | g.151822609C= | CA1591565136 | GLRA1 | c.*64G= (n.*64G=) | |
| 5 | g.151822609C>T | CA805721608 | GLRA1 | c.*64G>A (n.*64G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822610T>C | CA2676107376 | GLRA1 | c.*63A>G (n.*63A>G) | gnomAD v4 |
| 5 | g.151822611C= | CA1591565137 | GLRA1 | c.*62G= (n.*62G=) | |
| 5 | g.151822611C>T | CA130005978 | GLRA1 | c.*62G>A (n.*62G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822612del | CA2676107377 | GLRA1 | c.*61del (n.*61del) | gnomAD v4 |
| 5 | g.151822612T>C | CA1591565139 | GLRA1 | c.*61A>G (n.*61A>G) | dbSNP gnomAD v4 |
| 5 | g.151822612T= | CA1591565138 | GLRA1 | c.*61A= (n.*61A=) | |
| 5 | g.151822613C>A | CA2676107378 | GLRA1 | c.*60G>T (n.*60G>T) | gnomAD v4 |
| 5 | g.151822613C>T | CA2676107379 | GLRA1 | c.*60G>A (n.*60G>A) | gnomAD v4 |
| 5 | g.151822614A= | CA1591565140 | GLRA1 | c.*59T= (n.*59T=) | |
| 5 | g.151822614A>G | CA130005980 | GLRA1 | c.*59T>C (n.*59T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822615G>C | CA130005982 | GLRA1 | c.*58C>G (n.*58C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822615G= | CA1591565141 | GLRA1 | c.*58C= (n.*58C=) | |
| 5 | g.151822615G>T | CA2578460255 | GLRA1 | c.*58C>A (n.*58C>A) | |
| 5 | g.151822618T>A | CA2676107380 | GLRA1 | c.*55A>T (n.*55A>T) | gnomAD v4 |
| 5 | g.151822618_151822619insG | CA650907234 | GLRA1 | c.*54_*55insC (n.*54_*55insC) | COSMIC |
| 5 | g.151822619C>A | CA2676107381 | GLRA1 | c.*54G>T (n.*54G>T) | gnomAD v4 |
| 5 | g.151822619C= | CA1591565142 | GLRA1 | c.*54G= (n.*54G=) | |
| 5 | g.151822619C>G | CA1591565143 | GLRA1 | c.*54G>C (n.*54G>C) | dbSNP gnomAD v4 |
| 5 | g.151822619C>T | CA2676107382 | GLRA1 | c.*54G>A (n.*54G>A) | gnomAD v4 |
| 5 | g.151822620C>T | CA2578460257 | GLRA1 | c.*53G>A (n.*53G>A) | gnomAD v4 |
| 5 | g.151822622G>A | CA3523439 | GLRA1 | c.*51C>T (n.*51C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822622G= | CA1591565144 | GLRA1 | c.*51C= (n.*51C=) | |
| 5 | g.151822622G>T | CA2676107383 | GLRA1 | c.*51C>A (n.*51C>A) | gnomAD v4 |
| 5 | g.151822624G>A | CA130005988 | GLRA1 | c.*49C>T (n.*49C>T) | dbSNP gnomAD v4 |
| 5 | g.151822624G= | CA1591565145 | GLRA1 | c.*49C= (n.*49C=) | |
| 5 | g.151822624G>T | CA563632938 | GLRA1 | c.*49C>A (n.*49C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822626T>A | CA2676107384 | GLRA1 | c.*47A>T (n.*47A>T) | gnomAD v4 |
| 5 | g.151822626T>C | CA2676107385 | GLRA1 | c.*47A>G (n.*47A>G) | gnomAD v4 |
| 5 | g.151822627A= | CA1591565146 | GLRA1 | c.*46T= (n.*46T=) c.*1154T= (n.*1154T=) | |
| 5 | g.151822627A>G | CA1591565147 | GLRA1 | c.*46T>C (n.*46T>C) c.*1154T>C (n.*1154T>C) | dbSNP |
| 5 | g.151822630C>A | CA2676107386 | GLRA1 | c.*43G>T (n.*43G>T) c.*1151G>T (n.*1151G>T) | gnomAD v4 |
| 5 | g.151822630C>T | CA2578460258 | GLRA1 | c.*43G>A (n.*43G>A) c.*1151G>A (n.*1151G>A) | |
| 5 | g.151822631C= | CA1591565148 | GLRA1 | c.*42G= (n.*42G=) c.*1150G= (n.*1150G=) | |
| 5 | g.151822631C>T | CA130005990 | GLRA1 | c.*42G>A (n.*42G>A) c.*1150G>A (n.*1150G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822632C>A | CA2768928589 | GLRA1 | c.*41G>T (n.*41G>T) c.*1149G>T (n.*1149G>T) | |
| 5 | g.151822632C= | CA1591565149 | GLRA1 | c.*41G= (n.*41G=) c.*1149G= (n.*1149G=) | |
| 5 | g.151822632C>T | CA563632940 | GLRA1 | c.*41G>A (n.*41G>A) c.*1149G>A (n.*1149G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822633dup | CA2676107387 | GLRA1 | c.*40dup (n.*40dup) c.*1148dup (n.*1148dup) | gnomAD v4 |
| 5 | g.151822634C>A | CA2768928590 | GLRA1 | c.*39G>T (n.*39G>T) c.*1147G>T (n.*1147G>T) | |
| 5 | g.151822634C= | CA1591565150 | GLRA1 | c.*39G= (n.*39G=) c.*1147G= (n.*1147G=) | |
| 5 | g.151822634C>T | CA3523440 | GLRA1 | c.*39G>A (n.*39G>A) c.*1147G>A (n.*1147G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822635G>A | CA3523441 | GLRA1 | c.*38C>T (n.*38C>T) c.*1146C>T (n.*1146C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822635G= | CA1591565151 | GLRA1 | c.*38C= (n.*38C=) c.*1146C= (n.*1146C=) | |
| 5 | g.151822635G>T | CA563632945 | GLRA1 | c.*38C>A (n.*38C>A) c.*1146C>A (n.*1146C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822636T>A | CA1591565153 | GLRA1 | c.*37A>T (n.*37A>T) c.*1145A>T (n.*1145A>T) | dbSNP |
| 5 | g.151822636T>C | CA2676107388 | GLRA1 | c.*37A>G (n.*37A>G) c.*1145A>G (n.*1145A>G) | gnomAD v4 |
| 5 | g.151822636T= | CA1591565152 | GLRA1 | c.*37A= (n.*37A=) c.*1145A= (n.*1145A=) | |
| 5 | g.151822638C>A | CA2676107391 | GLRA1 | c.*35G>T (n.*35G>T) c.*1143G>T (n.*1143G>T) | gnomAD v4 |
| 5 | g.151822638C= | CA1591565154 | GLRA1 | c.*35G= (n.*35G=) c.*1143G= (n.*1143G=) | |
| 5 | g.151822638C>G | CA1591565155 | GLRA1 | c.*35G>C (n.*35G>C) c.*1143G>C (n.*1143G>C) | dbSNP |
| 5 | g.151822638C>T | CA2676107389 | GLRA1 | c.*35G>A (n.*35G>A) c.*1143G>A (n.*1143G>A) | gnomAD v4 |
| 5 | g.151822641del | CA2676107390 | GLRA1 | c.*35del (n.*35del) c.*1143del (n.*1143del) | gnomAD v4 |
| 5 | g.151822639C= | CA1591565156 | GLRA1 | c.*34G= (n.*34G=) c.*1142G= (n.*1142G=) | |
| 5 | g.151822639C>G | CA3523442 | GLRA1 | c.*34G>C (n.*34G>C) c.*1142G>C (n.*1142G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822639C>T | CA2578460259 | GLRA1 | c.*34G>A (n.*34G>A) c.*1142G>A (n.*1142G>A) | gnomAD v4 |
| 5 | g.151822640C>A | CA2676107393 | GLRA1 | c.*33G>T (n.*33G>T) c.*1141G>T (n.*1141G>T) | gnomAD v4 |
| 5 | g.151822640C= | CA1591565157 | GLRA1 | c.*33G= (n.*33G=) c.*1141G= (n.*1141G=) | |
| 5 | g.151822640C>T | CA3523443 | GLRA1 | c.*33G>A (n.*33G>A) c.*1141G>A (n.*1141G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822644_151822653del | CA2676107392 | GLRA1 | c.*24_*33del (n.*24_*33del) c.*1132_*1141del (n.*1132_*1141del) | gnomAD v4 |
| 5 | g.151822641C>T | CA2676107394 | GLRA1 | c.*32G>A (n.*32G>A) c.*1140G>A (n.*1140G>A) | gnomAD v4 |
| 5 | g.151822642T>C | CA2676107395 | GLRA1 | c.*31A>G (n.*31A>G) c.*1139A>G (n.*1139A>G) | gnomAD v4 |
| 5 | g.151822643C>T | CA2768928592 | GLRA1 | c.*30G>A (n.*30G>A) c.*1138G>A (n.*1138G>A) | |
| 5 | g.151822644T>A | CA2676107396 | GLRA1 | c.*29A>T (n.*29A>T) c.*1137A>T (n.*1137A>T) | gnomAD v4 |
| 5 | g.151822644T>C | CA2676107397 | GLRA1 | c.*29A>G (n.*29A>G) c.*1137A>G (n.*1137A>G) | gnomAD v4 |
| 5 | g.151822645C= | CA1591565158 | GLRA1 | c.*28G= (n.*28G=) c.*1136G= (n.*1136G=) | |
| 5 | g.151822645C>T | CA563632947 | GLRA1 | c.*28G>A (n.*28G>A) c.*1136G>A (n.*1136G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822649_151822658del | CA2676107398 | GLRA1 | c.*19_*28del (n.*19_*28del) c.*1127_*1136del (n.*1127_*1136del) | gnomAD v4 |
| 5 | g.151822646C>A | CA2578460260 | GLRA1 | c.*27G>T (n.*27G>T) c.*1135G>T (n.*1135G>T) | gnomAD v4 |
| 5 | g.151822646C>T | CA2676107399 | GLRA1 | c.*27G>A (n.*27G>A) c.*1135G>A (n.*1135G>A) | gnomAD v4 |
| 5 | g.151822647C= | CA1591565159 | GLRA1 | c.*26G= (n.*26G=) c.*1134G= (n.*1134G=) | |
| 5 | g.151822647C>T | CA805721635 | GLRA1 | c.*26G>A (n.*26G>A) c.*1134G>A (n.*1134G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822648A>G | CA2676107400 | GLRA1 | c.*25T>C (n.*25T>C) c.*1133T>C (n.*1133T>C) | gnomAD v4 |
| 5 | g.151822649del | CA2578460262 | GLRA1 | c.*24del (n.*24del) c.*1132del (n.*1132del) | |
| 5 | g.151822649G>A | CA2676107401 | GLRA1 | c.*24C>T (n.*24C>T) c.*1132C>T (n.*1132C>T) | gnomAD v4 |
| 5 | g.151822649G>C | CA563632948 | GLRA1 | c.*24C>G (n.*24C>G) c.*1132C>G (n.*1132C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822649G= | CA1591565160 | GLRA1 | c.*24C= (n.*24C=) c.*1132C= (n.*1132C=) | |
| 5 | g.151822649G>T | CA2578460263 | GLRA1 | c.*24C>A (n.*24C>A) c.*1132C>A (n.*1132C>A) | gnomAD v4 |
| 5 | g.151822650C= | CA1591565161 | GLRA1 | c.*23G= (n.*23G=) c.*1131G= (n.*1131G=) | |
| 5 | g.151822650C>T | CA563632949 | GLRA1 | c.*23G>A (n.*23G>A) c.*1131G>A (n.*1131G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822651C>T | CA2676107402 | GLRA1 | c.*22G>A (n.*22G>A) c.*1130G>A (n.*1130G>A) | gnomAD v4 |
| 5 | g.151822652T>C | CA2676107403 | GLRA1 | c.*21A>G (n.*21A>G) c.*1129A>G (n.*1129A>G) | gnomAD v4 |
| 5 | g.151822653C>A | CA563632950 | GLRA1 | c.*20G>T (n.*20G>T) c.*1128G>T (n.*1128G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822653C= | CA1591565162 | GLRA1 | c.*20G= (n.*20G=) c.*1128G= (n.*1128G=) | |
| 5 | g.151822653C>T | CA2578460265 | GLRA1 | c.*20G>A (n.*20G>A) c.*1128G>A (n.*1128G>A) | gnomAD v4 |
| 5 | g.151822657del | CA2578460264 | GLRA1 | c.*20del (n.*20del) c.*1128del (n.*1128del) | gnomAD v4 |
| 5 | g.151822654C>A | CA2676107404 | GLRA1 | c.*19G>T (n.*19G>T) c.*1127G>T (n.*1127G>T) | gnomAD v4 |
| 5 | g.151822654C= | CA1591565163 | GLRA1 | c.*19G= (n.*19G=) c.*1127G= (n.*1127G=) | |
| 5 | g.151822654C>T | CA805721644 | GLRA1 | c.*19G>A (n.*19G>A) c.*1127G>A (n.*1127G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822655C>A | CA2676107405 | GLRA1 | c.*18G>T (n.*18G>T) c.*1126G>T (n.*1126G>T) | gnomAD v4 |
| 5 | g.151822655C= | CA1591565164 | GLRA1 | c.*18G= (n.*18G=) c.*1126G= (n.*1126G=) | |
| 5 | g.151822655C>G | CA3523444 | GLRA1 | c.*18G>C (n.*18G>C) c.*1126G>C (n.*1126G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822655C>T | CA2578460266 | GLRA1 | c.*18G>A (n.*18G>A) c.*1126G>A (n.*1126G>A) | |
| 5 | g.151822656C>A | CA2676107406 | GLRA1 | c.*17G>T (n.*17G>T) c.*1125G>T (n.*1125G>T) | gnomAD v4 |
| 5 | g.151822656C= | CA1591565165 | GLRA1 | c.*17G= (n.*17G=) c.*1125G= (n.*1125G=) | |
| 5 | g.151822656C>G | CA805721646 | GLRA1 | c.*17G>C (n.*17G>C) c.*1125G>C (n.*1125G>C) | dbSNP gnomAD v4 |
| 5 | g.151822656C>T | CA1591565166 | GLRA1 | c.*17G>A (n.*17G>A) c.*1125G>A (n.*1125G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822657C>A | CA2676107407 | GLRA1 | c.*16G>T (n.*16G>T) c.*1124G>T (n.*1124G>T) | gnomAD v4 |
| 5 | g.151822659A>G | CA2676107408 | GLRA1 | c.*14T>C (n.*14T>C) c.*1122T>C (n.*1122T>C) | gnomAD v4 |
| 5 | g.151822660C= | CA1591565167 | GLRA1 | c.*13G= (n.*13G=) c.*1121G= (n.*1121G=) | |
| 5 | g.151822660C>T | CA3523445 | GLRA1 | c.*13G>A (n.*13G>A) c.*1121G>A (n.*1121G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822661C= | CA1591565168 | GLRA1 | c.*12G= (n.*12G=) c.*1120G= (n.*1120G=) | |
| 5 | g.151822661C>G | CA130006065 | GLRA1 | c.*12G>C (n.*12G>C) c.*1120G>C (n.*1120G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822664dup | CA3523446 | GLRA1 | c.*11dup (n.*11dup) c.*1119dup (n.*1119dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822665C= | CA1591565169 | GLRA1 | c.*8G= (n.*8G=) c.*1116G= (n.*1116G=) | |
| 5 | g.151822665C>G | CA3523447 | GLRA1 | c.*8G>C (n.*8G>C) c.*1116G>C (n.*1116G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822667G>A | CA563632951 | GLRA1 | c.*6C>T (n.*6C>T) c.*1114C>T (n.*1114C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822667G= | CA1591565170 | GLRA1 | c.*6C= (n.*6C=) c.*1114C= (n.*1114C=) | |
| 5 | g.151822667G>T | CA2676107409 | GLRA1 | c.*6C>A (n.*6C>A) c.*1114C>A (n.*1114C>A) | gnomAD v4 |
| 5 | g.151822668A= | CA1591565171 | GLRA1 | c.*5T= (n.*5T=) c.*1113T= (n.*1113T=) | |
| 5 | g.151822668A>T | CA3523448 | GLRA1 | c.*5T>A (n.*5T>A) c.*1113T>A (n.*1113T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822669C= | CA1591565172 | GLRA1 | c.*4G= (n.*4G=) c.*1112G= (n.*1112G=) | |
| 5 | g.151822669C>T | CA3523449 | GLRA1 | c.*4G>A (n.*4G>A) c.*1112G>A (n.*1112G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822670C= | CA1591565173 | GLRA1 | c.*3G= (n.*3G=) c.*1111G= (n.*1111G=) | |
| 5 | g.151822670C>T | CA563632952 | GLRA1 | c.*3G>A (n.*3G>A) c.*1111G>A (n.*1111G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822671C>A | CA2676107410 | GLRA1 | c.*2G>T (n.*2G>T) c.*1110G>T (n.*1110G>T) | gnomAD v4 |
| 5 | g.151822671C= | CA1591565174 | GLRA1 | c.*2G= (n.*2G=) c.*1110G= (n.*1110G=) | |
| 5 | g.151822671C>T | CA563632954 | GLRA1 | c.*2G>A (n.*2G>A) c.*1110G>A (n.*1110G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822673T>A | CA361849454 | GLRA1 | c.1350A>T (p.Ter450Cys) c.1374A>T (p.Ter458Cys) c.*1108A>T (n.*1108A>T) c.1101A>T (p.Ter367Cys) | |
| 5 | g.151822673T>C | CA361849456 | GLRA1 | c.1350A>G (p.Ter450Trp) c.1374A>G (p.Ter458Trp) c.*1108A>G (n.*1108A>G) c.1101A>G (p.Ter367Trp) | |
| 5 | g.151822673T>G | CA361849458 | GLRA1 | c.1350A>C (p.Ter450Cys) c.1374A>C (p.Ter458Cys) c.*1108A>C (n.*1108A>C) c.1101A>C (p.Ter367Cys) | |
| 5 | g.151822674C>A | CA361849461 | GLRA1 | c.1349G>T (p.Ter450Leu) c.1373G>T (p.Ter458Leu) c.*1107G>T (n.*1107G>T) c.1100G>T (p.Ter367Leu) | |
| 5 | g.151822674C>G | CA361849463 | GLRA1 | c.1349G>C (p.Ter450Ser) c.1373G>C (p.Ter458Ser) c.*1107G>C (n.*1107G>C) c.1100G>C (p.Ter367Ser) | |
| 5 | g.151822674C>T | CA447226509 | GLRA1 | c.1349G>A (p.Ter450=) c.1373G>A (p.Ter458=) c.*1107G>A (n.*1107G>A) c.1100G>A (p.Ter367=) | gnomAD v4 |
| 5 | g.151822675A= | CA1591565175 | GLRA1 | c.1348T= (p.Ter450=) c.1372T= (p.Ter458=) c.*1106T= (n.*1106T=) c.1099T= (p.Ter367=) | |
| 5 | g.151822675A>C | CA361849469 | GLRA1 | c.1348T>G (p.Ter450Gly) c.1372T>G (p.Ter458Gly) c.*1106T>G (n.*1106T>G) c.1099T>G (p.Ter367Gly) | gnomAD v4 |
| 5 | g.151822675A>G | CA361849472 | GLRA1 | c.1348T>C (p.Ter450Arg) c.1372T>C (p.Ter458Arg) c.*1106T>C (n.*1106T>C) c.1099T>C (p.Ter367Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151822675A>T | CA361849467 | GLRA1 | c.1348T>A (p.Ter450Arg) c.1372T>A (p.Ter458Arg) c.*1106T>A (n.*1106T>A) c.1099T>A (p.Ter367Arg) | gnomAD v4 |
| 5 | g.151822676C>A | CA361849478 | GLRA1 | c.1347G>T (p.Gln449His) c.1371G>T (p.Gln457His) c.*1105G>T (n.*1105G>T) c.1098G>T (p.Gln366His) | dbSNP gnomAD v2 |
| 5 | g.151822676C= | CA1591565176 | GLRA1 | c.1347G= (p.Gln449=) c.1371G= (p.Gln457=) c.*1105G= (n.*1105G=) c.1098G= (p.Gln366=) | |
| 5 | g.151822676C>G | CA361849474 | GLRA1 | c.1347G>C (p.Gln449His) c.1371G>C (p.Gln457His) c.*1105G>C (n.*1105G>C) c.1098G>C (p.Gln366His) | dbSNP |
| 5 | g.151822676C>T | CA447226510 | GLRA1 | c.1347G>A (p.Gln449=) c.1371G>A (p.Gln457=) c.*1105G>A (n.*1105G>A) c.1098G>A (p.Gln366=) | dbSNP |
| 5 | g.151822676_151822677del | CA2578460268 | GLRA1 | c.1346_1347del (p.Gln449LeufsTer?) c.1370_1371del (p.Gln457LeufsTer?) c.*1104_*1105del (n.*1104_*1105del) c.1097_1098del (p.Gln366LeufsTer?) | |
| 5 | g.151822677T>A | CA361849483 | GLRA1 | c.1346A>T (p.Gln449Leu) c.1370A>T (p.Gln457Leu) c.*1104A>T (n.*1104A>T) c.1097A>T (p.Gln366Leu) | |
| 5 | g.151822677T>C | CA361849485 | GLRA1 | c.1346A>G (p.Gln449Arg) c.1370A>G (p.Gln457Arg) c.*1104A>G (n.*1104A>G) c.1097A>G (p.Gln366Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822677T>G | CA361849487 | GLRA1 | c.1346A>C (p.Gln449Pro) c.1370A>C (p.Gln457Pro) c.*1104A>C (n.*1104A>C) c.1097A>C (p.Gln366Pro) | |
| 5 | g.151822677T= | CA1591565177 | GLRA1 | c.1346A= (p.Gln449=) c.1370A= (p.Gln457=) c.*1104A= (n.*1104A=) c.1097A= (p.Gln366=) | |
| 5 | g.151822678G>A | CA361849491 | GLRA1 | c.1345C>T (p.Gln449Ter) c.1369C>T (p.Gln457Ter) c.*1103C>T (n.*1103C>T) c.1096C>T (p.Gln366Ter) | |
| 5 | g.151822678G>C | CA361849493 | GLRA1 | c.1345C>G (p.Gln449Glu) c.1369C>G (p.Gln457Glu) c.*1103C>G (n.*1103C>G) c.1096C>G (p.Gln366Glu) | |
| 5 | g.151822678G>T | CA361849495 | GLRA1 | c.1345C>A (p.Gln449Lys) c.1369C>A (p.Gln457Lys) c.*1103C>A (n.*1103C>A) c.1096C>A (p.Gln366Lys) | |
| 5 | g.151822679del | CA2578460269 | GLRA1 | c.1345del (p.Gln449SerfsTer22) c.1369del (p.Gln457SerfsTer?) c.*1103del (n.*1103del) c.1369del (p.Gln457SerfsTer22) c.1096del (p.Gln366SerfsTer22) | |
| 5 | g.151822679G>A | CA447226511 | GLRA1 | c.1344C>T (p.Asn448=) c.1368C>T (p.Asn456=) c.*1102C>T (n.*1102C>T) c.1095C>T (p.Asn365=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.151822679G>C | CA361849497 | GLRA1 | c.1344C>G (p.Asn448Lys) c.1368C>G (p.Asn456Lys) c.*1102C>G (n.*1102C>G) c.1095C>G (p.Asn365Lys) | COSMIC |
| 5 | g.151822679G= | CA1591565178 | GLRA1 | c.1344C= (p.Asn448=) c.1368C= (p.Asn456=) c.*1102C= (n.*1102C=) c.1095C= (p.Asn365=) | |
| 5 | g.151822679G>T | CA361849498 | GLRA1 | c.1344C>A (p.Asn448Lys) c.1368C>A (p.Asn456Lys) c.*1102C>A (n.*1102C>A) c.1095C>A (p.Asn365Lys) | |
| 5 | g.151822680T>A | CA361849501 | GLRA1 | c.1343A>T (p.Asn448Ile) c.1367A>T (p.Asn456Ile) c.*1101A>T (n.*1101A>T) c.1094A>T (p.Asn365Ile) | |
| 5 | g.151822680T>C | CA361849503 | GLRA1 | c.1343A>G (p.Asn448Ser) c.1367A>G (p.Asn456Ser) c.*1101A>G (n.*1101A>G) c.1094A>G (p.Asn365Ser) | |
| 5 | g.151822680T>G | CA361849505 | GLRA1 | c.1343A>C (p.Asn448Thr) c.1367A>C (p.Asn456Thr) c.*1101A>C (n.*1101A>C) c.1094A>C (p.Asn365Thr) | |
| 5 | g.151822681T>A | CA361849513 | GLRA1 | c.1342A>T (p.Asn448Tyr) c.1366A>T (p.Asn456Tyr) c.*1100A>T (n.*1100A>T) c.1093A>T (p.Asn365Tyr) | |
| 5 | g.151822681T>C | CA361849510 | GLRA1 | c.1342A>G (p.Asn448Asp) c.1366A>G (p.Asn456Asp) c.*1100A>G (n.*1100A>G) c.1093A>G (p.Asn365Asp) | |
| 5 | g.151822681T>G | CA361849509 | GLRA1 | c.1342A>C (p.Asn448His) c.1366A>C (p.Asn456His) c.*1100A>C (n.*1100A>C) c.1093A>C (p.Asn365His) | |
| 5 | g.151822682G>A | CA3523450 | GLRA1 | c.1341C>T (p.His447=) c.1365C>T (p.His455=) c.*1099C>T (n.*1099C>T) c.1092C>T (p.His364=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822682G>C | CA361849519 | GLRA1 | c.1341C>G (p.His447Gln) c.1365C>G (p.His455Gln) c.*1099C>G (n.*1099C>G) c.1092C>G (p.His364Gln) | |
| 5 | g.151822682G= | CA1591565179 | GLRA1 | c.1341C= (p.His447=) c.1365C= (p.His455=) c.*1099C= (n.*1099C=) c.1092C= (p.His364=) | |
| 5 | g.151822682G>T | CA3523451 | GLRA1 | c.1341C>A (p.His447Gln) c.1365C>A (p.His455Gln) c.*1099C>A (n.*1099C>A) c.1092C>A (p.His364Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151822683T>A | CA361849524 | GLRA1 | c.1340A>T (p.His447Leu) c.1364A>T (p.His455Leu) c.*1098A>T (n.*1098A>T) c.1091A>T (p.His364Leu) | |
| 5 | g.151822683T>C | CA361849525 | GLRA1 | c.1340A>G (p.His447Arg) c.1364A>G (p.His455Arg) c.*1098A>G (n.*1098A>G) c.1091A>G (p.His364Arg) | ClinVar |
| 5 | g.151822683T>G | CA361849528 | GLRA1 | c.1340A>C (p.His447Pro) c.1364A>C (p.His455Pro) c.*1098A>C (n.*1098A>C) c.1091A>C (p.His364Pro) | |
| 5 | g.151822684G>A | CA361849531 | GLRA1 | c.1339C>T (p.His447Tyr) c.1363C>T (p.His455Tyr) c.*1097C>T (n.*1097C>T) c.1090C>T (p.His364Tyr) | |
| 5 | g.151822684G>C | CA361849534 | GLRA1 | c.1339C>G (p.His447Asp) c.1363C>G (p.His455Asp) c.*1097C>G (n.*1097C>G) c.1090C>G (p.His364Asp) | |
| 5 | g.151822684G= | CA1591565180 | GLRA1 | c.1339C= (p.His447=) c.1363C= (p.His455=) c.*1097C= (n.*1097C=) c.1090C= (p.His364=) | |
| 5 | g.151822684G>T | CA3523452 | GLRA1 | c.1339C>A (p.His447Asn) c.1363C>A (p.His455Asn) c.*1097C>A (n.*1097C>A) c.1090C>A (p.His364Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822685G>A | CA447226514 | GLRA1 | c.1338C>T (p.Val446=) c.1362C>T (p.Val454=) c.*1096C>T (n.*1096C>T) c.1089C>T (p.Val363=) | |
| 5 | g.151822685G>C | CA447226513 | GLRA1 | c.1338C>G (p.Val446=) c.1362C>G (p.Val454=) c.*1096C>G (n.*1096C>G) c.1089C>G (p.Val363=) | |
| 5 | g.151822685G>T | CA447226512 | GLRA1 | c.1338C>A (p.Val446=) c.1362C>A (p.Val454=) c.*1096C>A (n.*1096C>A) c.1089C>A (p.Val363=) | |
| 5 | g.151822686A= | CA1591565181 | GLRA1 | c.1337T= (p.Val446=) c.1361T= (p.Val454=) c.*1095T= (n.*1095T=) c.1088T= (p.Val363=) | |
| 5 | g.151822686A>C | CA361849539 | GLRA1 | c.1337T>G (p.Val446Gly) c.1361T>G (p.Val454Gly) c.*1095T>G (n.*1095T>G) c.1088T>G (p.Val363Gly) | |
| 5 | g.151822686A>G | CA3523453 | GLRA1 | c.1337T>C (p.Val446Ala) c.1361T>C (p.Val454Ala) c.*1095T>C (n.*1095T>C) c.1088T>C (p.Val363Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822686A>T | CA361849544 | GLRA1 | c.1337T>A (p.Val446Asp) c.1361T>A (p.Val454Asp) c.*1095T>A (n.*1095T>A) c.1088T>A (p.Val363Asp) | |
| 5 | g.151822687C>A | CA361849551 | GLRA1 | c.1336G>T (p.Val446Phe) c.1360G>T (p.Val454Phe) c.*1094G>T (n.*1094G>T) c.1087G>T (p.Val363Phe) | dbSNP |
| 5 | g.151822687C= | CA1591565182 | GLRA1 | c.1336G= (p.Val446=) c.1360G= (p.Val454=) c.*1094G= (n.*1094G=) c.1087G= (p.Val363=) | |
| 5 | g.151822687C>G | CA361849548 | GLRA1 | c.1336G>C (p.Val446Leu) c.1360G>C (p.Val454Leu) c.*1094G>C (n.*1094G>C) c.1087G>C (p.Val363Leu) | |
| 5 | g.151822687C>T | CA3523454 | GLRA1 | c.1336G>A (p.Val446Ile) c.1360G>A (p.Val454Ile) c.*1094G>A (n.*1094G>A) c.1087G>A (p.Val363Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822688G>A | CA3523455 | GLRA1 | c.1335C>T (p.Asp445=) c.1359C>T (p.Asp453=) c.*1093C>T (n.*1093C>T) c.1086C>T (p.Asp362=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151822688G>C | CA361849555 | GLRA1 | c.1335C>G (p.Asp445Glu) c.1359C>G (p.Asp453Glu) c.*1093C>G (n.*1093C>G) c.1086C>G (p.Asp362Glu) | gnomAD v4 |
| 5 | g.151822688G= | CA1591565183 | GLRA1 | c.1335C= (p.Asp445=) c.1359C= (p.Asp453=) c.*1093C= (n.*1093C=) c.1086C= (p.Asp362=) | |
| 5 | g.151822688G>T | CA361849557 | GLRA1 | c.1335C>A (p.Asp445Glu) c.1359C>A (p.Asp453Glu) c.*1093C>A (n.*1093C>A) c.1086C>A (p.Asp362Glu) | gnomAD v4 |
| 5 | g.151822689T>A | CA361849560 | GLRA1 | c.1334A>T (p.Asp445Val) c.1358A>T (p.Asp453Val) c.*1092A>T (n.*1092A>T) c.1085A>T (p.Asp362Val) | |
| 5 | g.151822689T>C | CA361849561 | GLRA1 | c.1334A>G (p.Asp445Gly) c.1358A>G (p.Asp453Gly) c.*1092A>G (n.*1092A>G) c.1085A>G (p.Asp362Gly) | |
| 5 | g.151822689T>G | CA361849563 | GLRA1 | c.1334A>C (p.Asp445Ala) c.1358A>C (p.Asp453Ala) c.*1092A>C (n.*1092A>C) c.1085A>C (p.Asp362Ala) | |
| 5 | g.151822690C>A | CA10621011 | GLRA1 | c.1333G>T (p.Asp445Tyr) c.1357G>T (p.Asp453Tyr) c.*1091G>T (n.*1091G>T) c.1084G>T (p.Asp362Tyr) | ClinVar dbSNP |
| 5 | g.151822690C= | CA1591565184 | GLRA1 | c.1333G= (p.Asp445=) c.1357G= (p.Asp453=) c.*1091G= (n.*1091G=) c.1084G= (p.Asp362=) | |
| 5 | g.151822690C>G | CA361849567 | GLRA1 | c.1333G>C (p.Asp445His) c.1357G>C (p.Asp453His) c.*1091G>C (n.*1091G>C) c.1084G>C (p.Asp362His) | |
| 5 | g.151822690C>T | CA361849569 | GLRA1 | c.1333G>A (p.Asp445Asn) c.1357G>A (p.Asp453Asn) c.*1091G>A (n.*1091G>A) c.1084G>A (p.Asp362Asn) | dbSNP gnomAD v4 |