Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
5 | g.151822970_151822971insGCGAAAACTCTTCATCCAG | CA1591565322 | GLRA1 | c.1060-8_1060-7insCTGGATGAAGAGTTTTCGC (n.1060-8_1060-7insCTGGATGAAGAGTTTTCGC) c.1076_1077insCTGGATGAAGAGTTTTCGC (p.Phe360TrpfsTer11) c.*818-8_*818-7insCTGGATGAAGAGTTTTCGC (n.*818-8_*818-7insCTGGATGAAGAGTTTTCGC) c.811-8_811-7insCTGGATGAAGAGTTTTCGC (n.811-8_811-7insCTGGATGAAGAGTTTTCGC) | dbSNP |
5 | g.151822971A= | CA1591565323 | GLRA1 | c.1060-8T= (n.1060-8T=) c.1076T= (p.Leu359=) c.*818-8T= (n.*818-8T=) c.811-8T= (n.811-8T=) | |
5 | g.151822971A>C | CA361850408 | GLRA1 | c.1060-8T>G (n.1060-8T>G) c.1076T>G (p.Leu359Arg) c.*818-8T>G (n.*818-8T>G) c.811-8T>G (n.811-8T>G) | |
5 | g.151822971A>G | CA361850409 | GLRA1 | c.1060-8T>C (n.1060-8T>C) c.1076T>C (p.Leu359Pro) c.*818-8T>C (n.*818-8T>C) c.811-8T>C (n.811-8T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822971A>T | CA361850410 | GLRA1 | c.1060-8T>A (n.1060-8T>A) c.1076T>A (p.Leu359Gln) c.*818-8T>A (n.*818-8T>A) c.811-8T>A (n.811-8T>A) | |
5 | g.151822972G>A | CA447226691 | GLRA1 | c.1060-9C>T (n.1060-9C>T) c.1075C>T (p.Leu359=) c.*818-9C>T (n.*818-9C>T) c.811-9C>T (n.811-9C>T) | |
5 | g.151822972G>C | CA361850411 | GLRA1 | c.1060-9C>G (n.1060-9C>G) c.1075C>G (p.Leu359Val) c.*818-9C>G (n.*818-9C>G) c.811-9C>G (n.811-9C>G) | gnomAD v4 |
5 | g.151822972G>T | CA361850412 | GLRA1 | c.1060-9C>A (n.1060-9C>A) c.1075C>A (p.Leu359Ile) c.*818-9C>A (n.*818-9C>A) c.811-9C>A (n.811-9C>A) | |
5 | g.151822973A>C | CA361850413 | GLRA1 | c.1060-10T>G (n.1060-10T>G) c.1074T>G (p.Asn358Lys) c.*818-10T>G (n.*818-10T>G) c.811-10T>G (n.811-10T>G) | |
5 | g.151822973A>G | CA447226692 | GLRA1 | c.1060-10T>C (n.1060-10T>C) c.1074T>C (p.Asn358=) c.*818-10T>C (n.*818-10T>C) c.811-10T>C (n.811-10T>C) | gnomAD v4 |
5 | g.151822973A>T | CA361850414 | GLRA1 | c.1060-10T>A (n.1060-10T>A) c.1074T>A (p.Asn358Lys) c.*818-10T>A (n.*818-10T>A) c.811-10T>A (n.811-10T>A) | ClinVar dbSNP |
5 | g.151822974T>A | CA361850415 | GLRA1 | c.1060-11A>T (n.1060-11A>T) c.1073A>T (p.Asn358Ile) c.*818-11A>T (n.*818-11A>T) c.811-11A>T (n.811-11A>T) | |
5 | g.151822974T>C | CA361850416 | GLRA1 | c.1060-11A>G (n.1060-11A>G) c.1073A>G (p.Asn358Ser) c.*818-11A>G (n.*818-11A>G) c.811-11A>G (n.811-11A>G) | |
5 | g.151822974T>G | CA361850417 | GLRA1 | c.1060-11A>C (n.1060-11A>C) c.1073A>C (p.Asn358Thr) c.*818-11A>C (n.*818-11A>C) c.811-11A>C (n.811-11A>C) | |
5 | g.151822974_151822975del | CA2578460328 | GLRA1 | c.1060-12_1060-11del (n.1060-12_1060-11del) c.1072_1073del (p.Asn358SerfsTer6) c.*818-12_*818-11del (n.*818-12_*818-11del) c.811-12_811-11del (n.811-12_811-11del) | gnomAD v4 |
5 | g.151822975T>A | CA361850420 | GLRA1 | c.1060-12A>T (n.1060-12A>T) c.1072A>T (p.Asn358Tyr) c.*818-12A>T (n.*818-12A>T) c.811-12A>T (n.811-12A>T) | |
5 | g.151822975T>C | CA361850419 | GLRA1 | c.1060-12A>G (n.1060-12A>G) c.1072A>G (p.Asn358Asp) c.*818-12A>G (n.*818-12A>G) c.811-12A>G (n.811-12A>G) | |
5 | g.151822975T>G | CA361850418 | GLRA1 | c.1060-12A>C (n.1060-12A>C) c.1072A>C (p.Asn358His) c.*818-12A>C (n.*818-12A>C) c.811-12A>C (n.811-12A>C) | |
5 | g.151822976C>A | CA361850421 | GLRA1 | c.1060-13G>T (n.1060-13G>T) c.1071G>T (p.Leu357Phe) c.*818-13G>T (n.*818-13G>T) c.811-13G>T (n.811-13G>T) | |
5 | g.151822976C>G | CA361850422 | GLRA1 | c.1060-13G>C (n.1060-13G>C) c.1071G>C (p.Leu357Phe) c.*818-13G>C (n.*818-13G>C) c.811-13G>C (n.811-13G>C) | |
5 | g.151822976C>T | CA447226693 | GLRA1 | c.1060-13G>A (n.1060-13G>A) c.1071G>A (p.Leu357=) c.*818-13G>A (n.*818-13G>A) c.811-13G>A (n.811-13G>A) | gnomAD v4 |
5 | g.151822977A>C | CA361850423 | GLRA1 | c.1060-14T>G (n.1060-14T>G) c.1070T>G (p.Leu357Trp) c.*818-14T>G (n.*818-14T>G) c.811-14T>G (n.811-14T>G) | |
5 | g.151822977A>G | CA361850424 | GLRA1 | c.1060-14T>C (n.1060-14T>C) c.1070T>C (p.Leu357Ser) c.*818-14T>C (n.*818-14T>C) c.811-14T>C (n.811-14T>C) | gnomAD v4 |
5 | g.151822977A>T | CA361850425 | GLRA1 | c.1060-14T>A (n.1060-14T>A) c.1070T>A (p.Leu357Ter) c.*818-14T>A (n.*818-14T>A) c.811-14T>A (n.811-14T>A) | |
5 | g.151822978A= | CA1591565324 | GLRA1 | c.1060-15T= (n.1060-15T=) c.1069T= (p.Leu357=) c.*818-15T= (n.*818-15T=) c.811-15T= (n.811-15T=) | |
5 | g.151822978A>C | CA361850426 | GLRA1 | c.1060-15T>G (n.1060-15T>G) c.1069T>G (p.Leu357Val) c.*818-15T>G (n.*818-15T>G) c.811-15T>G (n.811-15T>G) | gnomAD v4 |
5 | g.151822978A>G | CA3523518 | GLRA1 | c.1060-15T>C (n.1060-15T>C) c.1069T>C (p.Leu357=) c.*818-15T>C (n.*818-15T>C) c.811-15T>C (n.811-15T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822978A>T | CA361850427 | GLRA1 | c.1060-15T>A (n.1060-15T>A) c.1069T>A (p.Leu357Met) c.*818-15T>A (n.*818-15T>A) c.811-15T>A (n.811-15T>A) | |
5 | g.151822979C>A | CA361850428 | GLRA1 | c.1060-16G>T (n.1060-16G>T) c.1068G>T (p.Met356Ile) c.*818-16G>T (n.*818-16G>T) c.811-16G>T (n.811-16G>T) | gnomAD v4 |
5 | g.151822979C= | CA1591565325 | GLRA1 | c.1060-16G= (n.1060-16G=) c.1068G= (p.Met356=) c.*818-16G= (n.*818-16G=) c.811-16G= (n.811-16G=) | |
5 | g.151822979C>G | CA361850429 | GLRA1 | c.1060-16G>C (n.1060-16G>C) c.1068G>C (p.Met356Ile) c.*818-16G>C (n.*818-16G>C) c.811-16G>C (n.811-16G>C) | |
5 | g.151822979C>T | CA361850430 | GLRA1 | c.1060-16G>A (n.1060-16G>A) c.1068G>A (p.Met356Ile) c.*818-16G>A (n.*818-16G>A) c.811-16G>A (n.811-16G>A) | dbSNP gnomAD v4 |
5 | g.151822980A= | CA1591565326 | GLRA1 | c.1060-17T= (n.1060-17T=) c.1067T= (p.Met356=) c.*818-17T= (n.*818-17T=) c.811-17T= (n.811-17T=) | |
5 | g.151822980A>C | CA361850433 | GLRA1 | c.1060-17T>G (n.1060-17T>G) c.1067T>G (p.Met356Arg) c.*818-17T>G (n.*818-17T>G) c.811-17T>G (n.811-17T>G) | |
5 | g.151822980A>G | CA361850432 | GLRA1 | c.1060-17T>C (n.1060-17T>C) c.1067T>C (p.Met356Thr) c.*818-17T>C (n.*818-17T>C) c.811-17T>C (n.811-17T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151822980A>T | CA361850431 | GLRA1 | c.1060-17T>A (n.1060-17T>A) c.1067T>A (p.Met356Lys) c.*818-17T>A (n.*818-17T>A) c.811-17T>A (n.811-17T>A) | |
5 | g.151822981T>A | CA361850434 | GLRA1 | c.1060-18A>T (n.1060-18A>T) c.1066A>T (p.Met356Leu) c.*818-18A>T (n.*818-18A>T) c.811-18A>T (n.811-18A>T) | |
5 | g.151822981T>C | CA3523519 | GLRA1 | c.1060-18A>G (n.1060-18A>G) c.1066A>G (p.Met356Val) c.*818-18A>G (n.*818-18A>G) c.811-18A>G (n.811-18A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822981T>G | CA361850435 | GLRA1 | c.1060-18A>C (n.1060-18A>C) c.1066A>C (p.Met356Leu) c.*818-18A>C (n.*818-18A>C) c.811-18A>C (n.811-18A>C) | |
5 | g.151822981T= | CA1591565328 | GLRA1 | c.1060-18A= (n.1060-18A=) c.1066A= (p.Met356=) c.*818-18A= (n.*818-18A=) c.811-18A= (n.811-18A=) | |
5 | g.151822981_151822984delinsTGGG | CA1591565327 | GLRA1 | c.1060-21_1060-18delinsCCCA (n.1060-21_1060-18delinsCCCA) c.1063_1066delinsCCCA (p.Pro355=) c.*818-21_*818-18delinsCCCA (n.*818-21_*818-18delinsCCCA) c.811-21_811-18delinsCCCA (n.811-21_811-18delinsCCCA) | |
5 | g.151822982G>A | CA447226694 | GLRA1 | c.1060-19C>T (n.1060-19C>T) c.1065C>T (p.Pro355=) c.*818-19C>T (n.*818-19C>T) c.811-19C>T (n.811-19C>T) | |
5 | g.151822982G>C | CA447226695 | GLRA1 | c.1060-19C>G (n.1060-19C>G) c.1065C>G (p.Pro355=) c.*818-19C>G (n.*818-19C>G) c.811-19C>G (n.811-19C>G) | |
5 | g.151822982G>T | CA447226696 | GLRA1 | c.1060-19C>A (n.1060-19C>A) c.1065C>A (p.Pro355=) c.*818-19C>A (n.*818-19C>A) c.811-19C>A (n.811-19C>A) | |
5 | g.151822985del | CA130006493 | GLRA1 | c.1060-19del (n.1060-19del) c.1065del (p.Met356CysfsTer2) c.*818-19del (n.*818-19del) c.811-19del (n.811-19del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822983_151822985del | CA3523520 | GLRA1 | c.1060-21_1060-19del (n.1060-21_1060-19del) c.1063_1065del (p.Pro355del) c.*818-21_*818-19del (n.*818-21_*818-19del) c.811-21_811-19del (n.811-21_811-19del) | dbSNP ExAC gnomAD v2 |
5 | g.151822982_151822983insTTCTACT | CA447226697 | GLRA1 | c.1060-20_1060-19insAGTAGAA (n.1060-20_1060-19insAGTAGAA) c.1064_1065insAGTAGAA (p.Met356ValfsTer11) c.*818-20_*818-19insAGTAGAA (n.*818-20_*818-19insAGTAGAA) c.811-20_811-19insAGTAGAA (n.811-20_811-19insAGTAGAA) | |
5 | g.151822983G>A | CA3523521 | GLRA1 | c.1060-20C>T (n.1060-20C>T) c.1064C>T (p.Pro355Leu) c.*818-20C>T (n.*818-20C>T) c.811-20C>T (n.811-20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822983G>C | CA361850436 | GLRA1 | c.1060-20C>G (n.1060-20C>G) c.1064C>G (p.Pro355Arg) c.*818-20C>G (n.*818-20C>G) c.811-20C>G (n.811-20C>G) | |
5 | g.151822983G= | CA1591565329 | GLRA1 | c.1060-20C= (n.1060-20C=) c.1064C= (p.Pro355=) c.*818-20C= (n.*818-20C=) c.811-20C= (n.811-20C=) | |
5 | g.151822983G>T | CA361850437 | GLRA1 | c.1060-20C>A (n.1060-20C>A) c.1064C>A (p.Pro355His) c.*818-20C>A (n.*818-20C>A) c.811-20C>A (n.811-20C>A) | |
5 | g.151822984G>A | CA361850438 | GLRA1 | c.1060-21C>T (n.1060-21C>T) c.1063C>T (p.Pro355Ser) c.*818-21C>T (n.*818-21C>T) c.811-21C>T (n.811-21C>T) | |
5 | g.151822984G>C | CA361850439 | GLRA1 | c.1060-21C>G (n.1060-21C>G) c.1063C>G (p.Pro355Ala) c.*818-21C>G (n.*818-21C>G) c.811-21C>G (n.811-21C>G) | |
5 | g.151822984G>T | CA361850440 | GLRA1 | c.1060-21C>A (n.1060-21C>A) c.1063C>A (p.Pro355Thr) c.*818-21C>A (n.*818-21C>A) c.811-21C>A (n.811-21C>A) | gnomAD v4 |
5 | g.151822985G>A | CA447226698 | GLRA1 | c.1060-22C>T (n.1060-22C>T) c.1062C>T (p.Ser354=) c.*818-22C>T (n.*818-22C>T) c.811-22C>T (n.811-22C>T) | gnomAD v4 |
5 | g.151822985G>C | CA3523523 | GLRA1 | c.1060-22C>G (n.1060-22C>G) c.1062C>G (p.Ser354Arg) c.*818-22C>G (n.*818-22C>G) c.811-22C>G (n.811-22C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822985G= | CA1591565330 | GLRA1 | c.1060-22C= (n.1060-22C=) c.1062C= (p.Ser354=) c.*818-22C= (n.*818-22C=) c.811-22C= (n.811-22C=) | |
5 | g.151822985G>T | CA3523522 | GLRA1 | c.1060-22C>A (n.1060-22C>A) c.1062C>A (p.Ser354Arg) c.*818-22C>A (n.*818-22C>A) c.811-22C>A (n.811-22C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822986C>A | CA361850442 | GLRA1 | c.1060-23G>T (n.1060-23G>T) c.1061G>T (p.Ser354Ile) c.*818-23G>T (n.*818-23G>T) c.811-23G>T (n.811-23G>T) | gnomAD v4 |
5 | g.151822986C= | CA1591565331 | GLRA1 | c.1060-23G= (n.1060-23G=) c.1061G= (p.Ser354=) c.*818-23G= (n.*818-23G=) c.811-23G= (n.811-23G=) | |
5 | g.151822986C>G | CA361850441 | GLRA1 | c.1060-23G>C (n.1060-23G>C) c.1061G>C (p.Ser354Thr) c.*818-23G>C (n.*818-23G>C) c.811-23G>C (n.811-23G>C) | |
5 | g.151822986C>T | CA3523524 | GLRA1 | c.1060-23G>A (n.1060-23G>A) c.1061G>A (p.Ser354Asn) c.*818-23G>A (n.*818-23G>A) c.811-23G>A (n.811-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822987T>A | CA361850443 | GLRA1 | c.1060-24A>T (n.1060-24A>T) c.1060A>T (p.Ser354Cys) c.*818-24A>T (n.*818-24A>T) c.811-24A>T (n.811-24A>T) | |
5 | g.151822987T>C | CA361850444 | GLRA1 | c.1060-24A>G (n.1060-24A>G) c.1060A>G (p.Ser354Gly) c.*818-24A>G (n.*818-24A>G) c.811-24A>G (n.811-24A>G) | |
5 | g.151822987T>G | CA361850445 | GLRA1 | c.1060-24A>C (n.1060-24A>C) c.1060A>C (p.Ser354Arg) c.*818-24A>C (n.*818-24A>C) c.811-24A>C (n.811-24A>C) | |
5 | g.151822988C>A | CA361850446 | GLRA1 | c.1060-25G>T (n.1060-25G>T) c.1060-1G>T (n.1060-1G>T) c.*818-25G>T (n.*818-25G>T) c.811-25G>T (n.811-25G>T) | |
5 | g.151822988C>G | CA361850447 | GLRA1 | c.1060-25G>C (n.1060-25G>C) c.1060-1G>C (n.1060-1G>C) c.*818-25G>C (n.*818-25G>C) c.811-25G>C (n.811-25G>C) | gnomAD v4 |
5 | g.151822988C>T | CA361850448 | GLRA1 | c.1060-25G>A (n.1060-25G>A) c.1060-1G>A (n.1060-1G>A) c.*818-25G>A (n.*818-25G>A) c.811-25G>A (n.811-25G>A) | gnomAD v4 |
5 | g.151822989T>A | CA361850449 | GLRA1 | c.1060-26A>T (n.1060-26A>T) c.1060-2A>T (n.1060-2A>T) c.*818-26A>T (n.*818-26A>T) c.811-26A>T (n.811-26A>T) | |
5 | g.151822989T>C | CA361850450 | GLRA1 | c.1060-26A>G (n.1060-26A>G) c.1060-2A>G (n.1060-2A>G) c.*818-26A>G (n.*818-26A>G) c.811-26A>G (n.811-26A>G) | |
5 | g.151822989T>G | CA361850451 | GLRA1 | c.1060-26A>C (n.1060-26A>C) c.1060-2A>C (n.1060-2A>C) c.*818-26A>C (n.*818-26A>C) c.811-26A>C (n.811-26A>C) | gnomAD v4 |
5 | g.151822990_151822991del | CA2676108323 | GLRA1 | c.1060-28_1060-27del (n.1060-28_1060-27del) c.1060-4_1060-3del (n.1060-4_1060-3del) c.*818-28_*818-27del (n.*818-28_*818-27del) c.811-28_811-27del (n.811-28_811-27del) | gnomAD v4 |
5 | g.151822992_151822997delinsTTAAAA | CA1591565332 | GLRA1 | c.1060-34_1060-29delinsTTTTAA (n.1060-34_1060-29delinsTTTTAA) c.1060-10_1060-5delinsTTTTAA (n.1060-10_1060-5delinsTTTTAA) c.*818-34_*818-29delinsTTTTAA (n.*818-34_*818-29delinsTTTTAA) c.811-34_811-29delinsTTTTAA (n.811-34_811-29delinsTTTTAA) | |
5 | g.151822993T>G | CA2676108326 | GLRA1 | c.1060-30A>C (n.1060-30A>C) c.1060-6A>C (n.1060-6A>C) c.*818-30A>C (n.*818-30A>C) c.811-30A>C (n.811-30A>C) | gnomAD v4 |
5 | g.151822993T= | CA1591565333 | GLRA1 | c.1060-30A= (n.1060-30A=) c.1060-6A= (n.1060-6A=) c.*818-30A= (n.*818-30A=) c.811-30A= (n.811-30A=) | |
5 | g.151822993_151822999delinsTAAAATA | CA1591565334 | GLRA1 | c.1060-36_1060-30delinsTATTTTA (n.1060-36_1060-30delinsTATTTTA) c.1060-12_1060-6delinsTATTTTA (n.1060-12_1060-6delinsTATTTTA) c.*818-36_*818-30delinsTATTTTA (n.*818-36_*818-30delinsTATTTTA) c.811-36_811-30delinsTATTTTA (n.811-36_811-30delinsTATTTTA) | |
5 | g.151822996_151823000del | CA1591565335 | GLRA1 | c.1060-34_1060-30del (n.1060-34_1060-30del) c.1060-10_1060-6del (n.1060-10_1060-6del) c.*818-34_*818-30del (n.*818-34_*818-30del) c.811-34_811-30del (n.811-34_811-30del) | dbSNP gnomAD v4 |
5 | g.151822994_151822997del | CA2676108331 | GLRA1 | c.1060-34_1060-31del (n.1060-34_1060-31del) c.1060-10_1060-7del (n.1060-10_1060-7del) c.*818-34_*818-31del (n.*818-34_*818-31del) c.811-34_811-31del (n.811-34_811-31del) | gnomAD v4 |
5 | g.151822997dup | CA1591565336 | GLRA1 | c.1060-31dup (n.1060-31dup) c.1060-7dup (n.1060-7dup) c.*818-31dup (n.*818-31dup) c.811-31dup (n.811-31dup) | dbSNP |
5 | g.151822995_151823000del | CA130006540 | GLRA1 | c.1060-36_1060-31del (n.1060-36_1060-31del) c.1060-12_1060-7del (n.1060-12_1060-7del) c.*818-36_*818-31del (n.*818-36_*818-31del) c.811-36_811-31del (n.811-36_811-31del) | dbSNP gnomAD v4 |
5 | g.151822996A= | CA1591565337 | GLRA1 | c.1060-33T= (n.1060-33T=) c.1060-9T= (n.1060-9T=) c.*818-33T= (n.*818-33T=) c.811-33T= (n.811-33T=) | |
5 | g.151822996A>G | CA563958361 | GLRA1 | c.1060-33T>C (n.1060-33T>C) c.1060-9T>C (n.1060-9T>C) c.*818-33T>C (n.*818-33T>C) c.811-33T>C (n.811-33T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822998T>G | CA2676108336 | GLRA1 | c.1060-35A>C (n.1060-35A>C) c.1060-11A>C (n.1060-11A>C) c.*818-35A>C (n.*818-35A>C) c.811-35A>C (n.811-35A>C) | gnomAD v4 |
5 | g.151822999A>G | CA2676108340 | GLRA1 | c.1060-36T>C (n.1060-36T>C) c.1060-12T>C (n.1060-12T>C) c.*818-36T>C (n.*818-36T>C) c.811-36T>C (n.811-36T>C) | gnomAD v4 |
5 | g.151822999A>T | CA2676108342 | GLRA1 | c.1060-36T>A (n.1060-36T>A) c.1060-12T>A (n.1060-12T>A) c.*818-36T>A (n.*818-36T>A) c.811-36T>A (n.811-36T>A) | gnomAD v4 |
5 | g.151822999_151823000del | CA2676108338 | GLRA1 | c.1060-37_1060-36del (n.1060-37_1060-36del) c.1060-13_1060-12del (n.1060-13_1060-12del) c.*818-37_*818-36del (n.*818-37_*818-36del) c.811-37_811-36del (n.811-37_811-36del) | gnomAD v4 |
5 | g.151823000A>G | CA2676108344 | GLRA1 | c.1060-37T>C (n.1060-37T>C) c.1060-13T>C (n.1060-13T>C) c.*818-37T>C (n.*818-37T>C) c.811-37T>C (n.811-37T>C) | gnomAD v4 |
5 | g.151823001G>A | CA2676108346 | GLRA1 | c.1060-38C>T (n.1060-38C>T) c.1060-14C>T (n.1060-14C>T) c.*818-38C>T (n.*818-38C>T) c.811-38C>T (n.811-38C>T) | gnomAD v4 |
5 | g.151823001G>C | CA130006546 | GLRA1 | c.1060-38C>G (n.1060-38C>G) c.1060-14C>G (n.1060-14C>G) c.*818-38C>G (n.*818-38C>G) c.811-38C>G (n.811-38C>G) | dbSNP gnomAD v4 |
5 | g.151823001G= | CA1591565338 | GLRA1 | c.1060-38C= (n.1060-38C=) c.1060-14C= (n.1060-14C=) c.*818-38C= (n.*818-38C=) c.811-38C= (n.811-38C=) | |
5 | g.151823001G>T | CA2676108348 | GLRA1 | c.1060-38C>A (n.1060-38C>A) c.1060-14C>A (n.1060-14C>A) c.*818-38C>A (n.*818-38C>A) c.811-38C>A (n.811-38C>A) | gnomAD v4 |
5 | g.151823002A= | CA1591565339 | GLRA1 | c.1060-39T= (n.1060-39T=) c.1060-15T= (n.1060-15T=) c.*818-39T= (n.*818-39T=) c.811-39T= (n.811-39T=) | |
5 | g.151823002A>G | CA3523525 | GLRA1 | c.1060-39T>C (n.1060-39T>C) c.1060-15T>C (n.1060-15T>C) c.*818-39T>C (n.*818-39T>C) c.811-39T>C (n.811-39T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |