Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |