UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.89257679C>A | CA451348153 | GABRR2 | c.1389G>T (p.Val463=) n.1220G>T c.1257G>T (p.Val419=) c.1092G>T (p.Val364=) | |
| 6 | g.89257679C>G | CA451348155 | GABRR2 | c.1389G>C (p.Val463=) n.1220G>C c.1257G>C (p.Val419=) c.1092G>C (p.Val364=) | |
| 6 | g.89257679C>T | CA451348158 | GABRR2 | c.1389G>A (p.Val463=) n.1220G>A c.1257G>A (p.Val419=) c.1092G>A (p.Val364=) | |
| 6 | g.89257680A= | CA1645371212 | GABRR2 | c.1388T= (p.Val463=) n.1219T= c.1256T= (p.Val419=) c.1091T= (p.Val364=) | |
| 6 | g.89257680A>C | CA364954482 | GABRR2 | c.1388T>G (p.Val463Gly) n.1219T>G c.1256T>G (p.Val419Gly) c.1091T>G (p.Val364Gly) | |
| 6 | g.89257680A>G | CA364954481 | GABRR2 | c.1388T>C (p.Val463Ala) n.1219T>C c.1256T>C (p.Val419Ala) c.1091T>C (p.Val364Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.89257680A>T | CA364954480 | GABRR2 | c.1388T>A (p.Val463Glu) n.1219T>A c.1256T>A (p.Val419Glu) c.1091T>A (p.Val364Glu) | |
| 6 | g.89257681C>A | CA364954484 | GABRR2 | c.1387G>T (p.Val463Leu) n.1218G>T c.1255G>T (p.Val419Leu) c.1090G>T (p.Val364Leu) | |
| 6 | g.89257681C= | CA1645371213 | GABRR2 | c.1387G= (p.Val463=) n.1218G= c.1255G= (p.Val419=) c.1090G= (p.Val364=) | |
| 6 | g.89257681C>G | CA364954483 | GABRR2 | c.1387G>C (p.Val463Leu) n.1218G>C c.1255G>C (p.Val419Leu) c.1090G>C (p.Val364Leu) | |
| 6 | g.89257681C>T | CA3920030 | GABRR2 | c.1387G>A (p.Val463Met) n.1218G>A c.1255G>A (p.Val419Met) c.1090G>A (p.Val364Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257682T>A | CA3920031 | GABRR2 | c.1386A>T (p.Ser462=) n.1217A>T c.1254A>T (p.Ser418=) c.1089A>T (p.Ser363=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.89257682T>C | CA451348163 | GABRR2 | c.1386A>G (p.Ser462=) n.1217A>G c.1254A>G (p.Ser418=) c.1089A>G (p.Ser363=) | gnomAD v4 |
| 6 | g.89257682T>G | CA451348164 | GABRR2 | c.1386A>C (p.Ser462=) n.1217A>C c.1254A>C (p.Ser418=) c.1089A>C (p.Ser363=) | |
| 6 | g.89257682T= | CA1645371214 | GABRR2 | c.1386A= (p.Ser462=) n.1217A= c.1254A= (p.Ser418=) c.1089A= (p.Ser363=) | |
| 6 | g.89257683G>A | CA364954485 | GABRR2 | c.1385C>T (p.Ser462Leu) n.1216C>T c.1253C>T (p.Ser418Leu) c.1088C>T (p.Ser363Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.89257683G>C | CA364954486 | GABRR2 | c.1385C>G (p.Ser462Ter) n.1216C>G c.1253C>G (p.Ser418Ter) c.1088C>G (p.Ser363Ter) | |
| 6 | g.89257683G= | CA1645371215 | GABRR2 | c.1385C= (p.Ser462=) n.1216C= c.1253C= (p.Ser418=) c.1088C= (p.Ser363=) | |
| 6 | g.89257683G>T | CA364954487 | GABRR2 | c.1385C>A (p.Ser462Ter) n.1216C>A c.1253C>A (p.Ser418Ter) c.1088C>A (p.Ser363Ter) | gnomAD v4 |
| 6 | g.89257684A= | CA1645371216 | GABRR2 | c.1384T= (p.Ser462=) n.1215T= c.1252T= (p.Ser418=) c.1087T= (p.Ser363=) | |
| 6 | g.89257684A>C | CA364954488 | GABRR2 | c.1384T>G (p.Ser462Ala) n.1215T>G c.1252T>G (p.Ser418Ala) c.1087T>G (p.Ser363Ala) | |
| 6 | g.89257684A>G | CA3920032 | GABRR2 | c.1384T>C (p.Ser462Pro) n.1215T>C c.1252T>C (p.Ser418Pro) c.1087T>C (p.Ser363Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.89257684A>T | CA364954489 | GABRR2 | c.1384T>A (p.Ser462Thr) n.1215T>A c.1252T>A (p.Ser418Thr) c.1087T>A (p.Ser363Thr) | gnomAD v4 |
| 6 | g.89257685C>A | CA364954490 | GABRR2 | c.1383G>T (p.Trp461Cys) n.1214G>T c.1251G>T (p.Trp417Cys) c.1086G>T (p.Trp362Cys) | |
| 6 | g.89257685C>G | CA364954491 | GABRR2 | c.1383G>C (p.Trp461Cys) n.1214G>C c.1251G>C (p.Trp417Cys) c.1086G>C (p.Trp362Cys) | |
| 6 | g.89257685C>T | CA364954492 | GABRR2 | c.1383G>A (p.Trp461Ter) n.1214G>A c.1251G>A (p.Trp417Ter) c.1086G>A (p.Trp362Ter) | |
| 6 | g.89257686C>A | CA364954494 | GABRR2 | c.1382G>T (p.Trp461Leu) n.1213G>T c.1250G>T (p.Trp417Leu) c.1085G>T (p.Trp362Leu) | |
| 6 | g.89257686C>G | CA364954495 | GABRR2 | c.1382G>C (p.Trp461Ser) n.1213G>C c.1250G>C (p.Trp417Ser) c.1085G>C (p.Trp362Ser) | |
| 6 | g.89257686C>T | CA364954493 | GABRR2 | c.1382G>A (p.Trp461Ter) n.1213G>A c.1250G>A (p.Trp417Ter) c.1085G>A (p.Trp362Ter) | |
| 6 | g.89257687A= | CA1645371217 | GABRR2 | c.1381T= (p.Trp461=) n.1212T= c.1249T= (p.Trp417=) c.1084T= (p.Trp362=) | |
| 6 | g.89257687A>C | CA364954496 | GABRR2 | c.1381T>G (p.Trp461Gly) n.1212T>G c.1249T>G (p.Trp417Gly) c.1084T>G (p.Trp362Gly) | |
| 6 | g.89257687A>G | CA364954497 | GABRR2 | c.1381T>C (p.Trp461Arg) n.1212T>C c.1249T>C (p.Trp417Arg) c.1084T>C (p.Trp362Arg) | dbSNP gnomAD v4 |
| 6 | g.89257687A>T | CA364954498 | GABRR2 | c.1381T>A (p.Trp461Arg) n.1212T>A c.1249T>A (p.Trp417Arg) c.1084T>A (p.Trp362Arg) | |
| 6 | g.89257688A>C | CA364954499 | GABRR2 | c.1380T>G (p.Tyr460Ter) n.1211T>G c.1248T>G (p.Tyr416Ter) c.1083T>G (p.Tyr361Ter) | |
| 6 | g.89257688A>G | CA451348177 | GABRR2 | c.1380T>C (p.Tyr460=) n.1211T>C c.1248T>C (p.Tyr416=) c.1083T>C (p.Tyr361=) | |
| 6 | g.89257688A>T | CA364954500 | GABRR2 | c.1380T>A (p.Tyr460Ter) n.1211T>A c.1248T>A (p.Tyr416Ter) c.1083T>A (p.Tyr361Ter) | |
| 6 | g.89257689T>A | CA364954503 | GABRR2 | c.1379A>T (p.Tyr460Phe) n.1210A>T c.1247A>T (p.Tyr416Phe) c.1082A>T (p.Tyr361Phe) | |
| 6 | g.89257689T>C | CA364954501 | GABRR2 | c.1379A>G (p.Tyr460Cys) n.1210A>G c.1247A>G (p.Tyr416Cys) c.1082A>G (p.Tyr361Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257689T>G | CA364954502 | GABRR2 | c.1379A>C (p.Tyr460Ser) n.1210A>C c.1247A>C (p.Tyr416Ser) c.1082A>C (p.Tyr361Ser) | |
| 6 | g.89257689T= | CA1645371218 | GABRR2 | c.1379A= (p.Tyr460=) n.1210A= c.1247A= (p.Tyr416=) c.1082A= (p.Tyr361=) | |
| 6 | g.89257689_89257690delinsTA | CA1645371219 | GABRR2 | c.1378_1379delinsTA (p.Tyr460=) n.1209_1210delinsTA c.1246_1247delinsTA (p.Tyr416=) c.1081_1082delinsTA (p.Tyr361=) | |
| 6 | g.89257690A>C | CA364954504 | GABRR2 | c.1378T>G (p.Tyr460Asp) n.1209T>G c.1246T>G (p.Tyr416Asp) c.1081T>G (p.Tyr361Asp) | |
| 6 | g.89257690A>G | CA364954505 | GABRR2 | c.1378T>C (p.Tyr460His) n.1209T>C c.1246T>C (p.Tyr416His) c.1081T>C (p.Tyr361His) | |
| 6 | g.89257690A>T | CA364954506 | GABRR2 | c.1378T>A (p.Tyr460Asn) n.1209T>A c.1246T>A (p.Tyr416Asn) c.1081T>A (p.Tyr361Asn) | |
| 6 | g.89257692del | CA3920033 | GABRR2 | c.1378del (p.Tyr460IlefsTer27) n.1209del c.1246del (p.Tyr416IlefsTer27) c.1081del (p.Tyr361IlefsTer27) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.89257691A= | CA1645371220 | GABRR2 | c.1377T= (p.Ile459=) n.1208T= c.1245T= (p.Ile415=) c.1080T= (p.Ile360=) | |
| 6 | g.89257691A>C | CA364954507 | GABRR2 | c.1377T>G (p.Ile459Met) n.1208T>G c.1245T>G (p.Ile415Met) c.1080T>G (p.Ile360Met) | COSMIC COSMIC |
| 6 | g.89257691A>G | CA142928471 | GABRR2 | c.1377T>C (p.Ile459=) n.1208T>C c.1245T>C (p.Ile415=) c.1080T>C (p.Ile360=) | dbSNP gnomAD v4 |
| 6 | g.89257691A>T | CA451348182 | GABRR2 | c.1377T>A (p.Ile459=) n.1208T>A c.1245T>A (p.Ile415=) c.1080T>A (p.Ile360=) | dbSNP |
| 6 | g.89257692A= | CA1645371221 | GABRR2 | c.1376T= (p.Ile459=) n.1207T= c.1244T= (p.Ile415=) c.1079T= (p.Ile360=) | |
| 6 | g.89257692A>C | CA364954509 | GABRR2 | c.1376T>G (p.Ile459Ser) n.1207T>G c.1244T>G (p.Ile415Ser) c.1079T>G (p.Ile360Ser) | |
| 6 | g.89257692A>G | CA3920034 | GABRR2 | c.1376T>C (p.Ile459Thr) n.1207T>C c.1244T>C (p.Ile415Thr) c.1079T>C (p.Ile360Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257692A>T | CA364954508 | GABRR2 | c.1376T>A (p.Ile459Asn) n.1207T>A c.1244T>A (p.Ile415Asn) c.1079T>A (p.Ile360Asn) | |
| 6 | g.89257693T>A | CA364954510 | GABRR2 | c.1375A>T (p.Ile459Phe) n.1206A>T c.1243A>T (p.Ile415Phe) c.1078A>T (p.Ile360Phe) | |
| 6 | g.89257693T>C | CA364954512 | GABRR2 | c.1375A>G (p.Ile459Val) n.1206A>G c.1243A>G (p.Ile415Val) c.1078A>G (p.Ile360Val) | |
| 6 | g.89257693T>G | CA364954511 | GABRR2 | c.1375A>C (p.Ile459Leu) n.1206A>C c.1243A>C (p.Ile415Leu) c.1078A>C (p.Ile360Leu) | |
| 6 | g.89257694T>A | CA142928484 | GABRR2 | c.1374A>T (p.Leu458Phe) n.1205A>T c.1242A>T (p.Leu414Phe) c.1077A>T (p.Leu359Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257694T>C | CA451348190 | GABRR2 | c.1374A>G (p.Leu458=) n.1205A>G c.1242A>G (p.Leu414=) c.1077A>G (p.Leu359=) | |
| 6 | g.89257694T>G | CA364954513 | GABRR2 | c.1374A>C (p.Leu458Phe) n.1205A>C c.1242A>C (p.Leu414Phe) c.1077A>C (p.Leu359Phe) | gnomAD v4 |
| 6 | g.89257694T= | CA1645371222 | GABRR2 | c.1374A= (p.Leu458=) n.1205A= c.1242A= (p.Leu414=) c.1077A= (p.Leu359=) | |
| 6 | g.89257695A= | CA1645371223 | GABRR2 | c.1373T= (p.Leu458=) n.1204T= c.1241T= (p.Leu414=) c.1076T= (p.Leu359=) | |
| 6 | g.89257695A>C | CA364954514 | GABRR2 | c.1373T>G (p.Leu458Ter) n.1204T>G c.1241T>G (p.Leu414Ter) c.1076T>G (p.Leu359Ter) | dbSNP |
| 6 | g.89257695A>G | CA364954515 | GABRR2 | c.1373T>C (p.Leu458Ser) n.1204T>C c.1241T>C (p.Leu414Ser) c.1076T>C (p.Leu359Ser) | gnomAD v4 |
| 6 | g.89257695A>T | CA364954516 | GABRR2 | c.1373T>A (p.Leu458Ter) n.1204T>A c.1241T>A (p.Leu414Ter) c.1076T>A (p.Leu359Ter) | |
| 6 | g.89257696A>C | CA364954517 | GABRR2 | c.1372T>G (p.Leu458Val) n.1203T>G c.1240T>G (p.Leu414Val) c.1075T>G (p.Leu359Val) | |
| 6 | g.89257696A>G | CA451348195 | GABRR2 | c.1372T>C (p.Leu458=) n.1203T>C c.1240T>C (p.Leu414=) c.1075T>C (p.Leu359=) | |
| 6 | g.89257696A>T | CA364954518 | GABRR2 | c.1372T>A (p.Leu458Ile) n.1203T>A c.1240T>A (p.Leu414Ile) c.1075T>A (p.Leu359Ile) | |
| 6 | g.89257697G>A | CA3920035 | GABRR2 | c.1371C>T (p.Asn457=) n.1202C>T c.1239C>T (p.Asn413=) c.1074C>T (p.Asn358=) | dbSNP ExAC gnomAD v4 |
| 6 | g.89257697G>C | CA364954519 | GABRR2 | c.1371C>G (p.Asn457Lys) n.1202C>G c.1239C>G (p.Asn413Lys) c.1074C>G (p.Asn358Lys) | |
| 6 | g.89257697G= | CA1645371224 | GABRR2 | c.1371C= (p.Asn457=) n.1202C= c.1239C= (p.Asn413=) c.1074C= (p.Asn358=) | |
| 6 | g.89257697G>T | CA364954520 | GABRR2 | c.1371C>A (p.Asn457Lys) n.1202C>A c.1239C>A (p.Asn413Lys) c.1074C>A (p.Asn358Lys) | |
| 6 | g.89257698T>A | CA364954521 | GABRR2 | c.1370A>T (p.Asn457Ile) n.1201A>T c.1238A>T (p.Asn413Ile) c.1073A>T (p.Asn358Ile) | |
| 6 | g.89257698T>C | CA3920036 | GABRR2 | c.1370A>G (p.Asn457Ser) n.1201A>G c.1238A>G (p.Asn413Ser) c.1073A>G (p.Asn358Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257698T>G | CA364954522 | GABRR2 | c.1370A>C (p.Asn457Thr) n.1201A>C c.1238A>C (p.Asn413Thr) c.1073A>C (p.Asn358Thr) | |
| 6 | g.89257698T= | CA1645371225 | GABRR2 | c.1370A= (p.Asn457=) n.1201A= c.1238A= (p.Asn413=) c.1073A= (p.Asn358=) | |
| 6 | g.89257699T>A | CA364954523 | GABRR2 | c.1369A>T (p.Asn457Tyr) n.1200A>T c.1237A>T (p.Asn413Tyr) c.1072A>T (p.Asn358Tyr) | |
| 6 | g.89257699T>C | CA364954525 | GABRR2 | c.1369A>G (p.Asn457Asp) n.1200A>G c.1237A>G (p.Asn413Asp) c.1072A>G (p.Asn358Asp) | |
| 6 | g.89257699T>G | CA364954524 | GABRR2 | c.1369A>C (p.Asn457His) n.1200A>C c.1237A>C (p.Asn413His) c.1072A>C (p.Asn358His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257699T= | CA1645371226 | GABRR2 | c.1369A= (p.Asn457=) n.1200A= c.1237A= (p.Asn413=) c.1072A= (p.Asn358=) | |
| 6 | g.89257700G>A | CA451348199 | GABRR2 | c.1368C>T (p.Phe456=) n.1199C>T c.1236C>T (p.Phe412=) c.1071C>T (p.Phe357=) | |
| 6 | g.89257700G>C | CA364954526 | GABRR2 | c.1368C>G (p.Phe456Leu) n.1199C>G c.1236C>G (p.Phe412Leu) c.1071C>G (p.Phe357Leu) | |
| 6 | g.89257700G>T | CA364954527 | GABRR2 | c.1368C>A (p.Phe456Leu) n.1199C>A c.1236C>A (p.Phe412Leu) c.1071C>A (p.Phe357Leu) | |
| 6 | g.89257701A>C | CA364954528 | GABRR2 | c.1367T>G (p.Phe456Cys) n.1198T>G c.1235T>G (p.Phe412Cys) c.1070T>G (p.Phe357Cys) | |
| 6 | g.89257701A>G | CA364954529 | GABRR2 | c.1367T>C (p.Phe456Ser) n.1198T>C c.1235T>C (p.Phe412Ser) c.1070T>C (p.Phe357Ser) | gnomAD v4 |
| 6 | g.89257701A>T | CA364954530 | GABRR2 | c.1367T>A (p.Phe456Tyr) n.1198T>A c.1235T>A (p.Phe412Tyr) c.1070T>A (p.Phe357Tyr) | |
| 6 | g.89257705dup | CA2679657144 | GABRR2 | c.1367dup (p.Asn457GlnfsTer?) n.1198dup c.1235dup (p.Asn413GlnfsTer?) c.1070dup (p.Asn358GlnfsTer?) | gnomAD v4 |
| 6 | g.89257702A>C | CA364954531 | GABRR2 | c.1366T>G (p.Phe456Val) n.1197T>G c.1234T>G (p.Phe412Val) c.1069T>G (p.Phe357Val) | |
| 6 | g.89257702A>G | CA364954532 | GABRR2 | c.1366T>C (p.Phe456Leu) n.1197T>C c.1234T>C (p.Phe412Leu) c.1069T>C (p.Phe357Leu) | |
| 6 | g.89257702A>T | CA364954533 | GABRR2 | c.1366T>A (p.Phe456Ile) n.1197T>A c.1234T>A (p.Phe412Ile) c.1069T>A (p.Phe357Ile) | |
| 6 | g.89257703A>C | CA364954534 | GABRR2 | c.1365T>G (p.Phe455Leu) n.1196T>G c.1233T>G (p.Phe411Leu) c.1068T>G (p.Phe356Leu) | |
| 6 | g.89257703A>G | CA451348203 | GABRR2 | c.1365T>C (p.Phe455=) n.1196T>C c.1233T>C (p.Phe411=) c.1068T>C (p.Phe356=) | |
| 6 | g.89257703A>T | CA364954535 | GABRR2 | c.1365T>A (p.Phe455Leu) n.1196T>A c.1233T>A (p.Phe411Leu) c.1068T>A (p.Phe356Leu) | |
| 6 | g.89257704A>C | CA364954538 | GABRR2 | c.1364T>G (p.Phe455Cys) n.1195T>G c.1232T>G (p.Phe411Cys) c.1067T>G (p.Phe356Cys) | |
| 6 | g.89257704A>G | CA364954537 | GABRR2 | c.1364T>C (p.Phe455Ser) n.1195T>C c.1232T>C (p.Phe411Ser) c.1067T>C (p.Phe356Ser) | |
| 6 | g.89257704A>T | CA364954536 | GABRR2 | c.1364T>A (p.Phe455Tyr) n.1195T>A c.1232T>A (p.Phe411Tyr) c.1067T>A (p.Phe356Tyr) | |
| 6 | g.89257705A>C | CA364954539 | GABRR2 | c.1363T>G (p.Phe455Val) n.1194T>G c.1231T>G (p.Phe411Val) c.1066T>G (p.Phe356Val) | |
| 6 | g.89257705A>G | CA364954540 | GABRR2 | c.1363T>C (p.Phe455Leu) n.1194T>C c.1231T>C (p.Phe411Leu) c.1066T>C (p.Phe356Leu) | |
| 6 | g.89257705A>T | CA364954541 | GABRR2 | c.1363T>A (p.Phe455Ile) n.1194T>A c.1231T>A (p.Phe411Ile) c.1066T>A (p.Phe356Ile) | |
| 6 | g.89257706T>A | CA451348207 | GABRR2 | c.1362A>T (p.Ile454=) n.1193A>T c.1230A>T (p.Ile410=) c.1065A>T (p.Ile355=) | |
| 6 | g.89257706T>C | CA142928495 | GABRR2 | c.1362A>G (p.Ile454Met) n.1193A>G c.1230A>G (p.Ile410Met) c.1065A>G (p.Ile355Met) | dbSNP gnomAD v4 |
| 6 | g.89257706T>G | CA451348210 | GABRR2 | c.1362A>C (p.Ile454=) n.1193A>C c.1230A>C (p.Ile410=) c.1065A>C (p.Ile355=) | |
| 6 | g.89257706T= | CA1645371227 | GABRR2 | c.1362A= (p.Ile454=) n.1193A= c.1230A= (p.Ile410=) c.1065A= (p.Ile355=) | |
| 6 | g.89257707A= | CA1645371228 | GABRR2 | c.1361T= (p.Ile454=) n.1192T= c.1229T= (p.Ile410=) c.1064T= (p.Ile355=) | |
| 6 | g.89257707A>C | CA364954542 | GABRR2 | c.1361T>G (p.Ile454Arg) n.1192T>G c.1229T>G (p.Ile410Arg) c.1064T>G (p.Ile355Arg) | |
| 6 | g.89257707A>G | CA3920037 | GABRR2 | c.1361T>C (p.Ile454Thr) n.1192T>C c.1229T>C (p.Ile410Thr) c.1064T>C (p.Ile355Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.89257707A>T | CA364954543 | GABRR2 | c.1361T>A (p.Ile454Lys) n.1192T>A c.1229T>A (p.Ile410Lys) c.1064T>A (p.Ile355Lys) | |
| 6 | g.89257708T>A | CA364954544 | GABRR2 | c.1360A>T (p.Ile454Leu) n.1191A>T c.1228A>T (p.Ile410Leu) c.1063A>T (p.Ile355Leu) | |
| 6 | g.89257708T>C | CA3920038 | GABRR2 | c.1360A>G (p.Ile454Val) n.1191A>G c.1228A>G (p.Ile410Val) c.1063A>G (p.Ile355Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.89257708T>G | CA364954545 | GABRR2 | c.1360A>C (p.Ile454Leu) n.1191A>C c.1228A>C (p.Ile410Leu) c.1063A>C (p.Ile355Leu) | gnomAD v4 |
| 6 | g.89257708T= | CA1645371229 | GABRR2 | c.1360A= (p.Ile454=) n.1191A= c.1228A= (p.Ile410=) c.1063A= (p.Ile355=) | |
| 6 | g.89257709_89257710del | CA2679657145 | GABRR2 | c.1359_1360del (p.Phe456GlnfsTer?) n.1190_1191del c.1227_1228del (p.Phe412GlnfsTer?) c.1062_1063del (p.Phe357GlnfsTer?) | gnomAD v4 |
| 6 | g.89257709G>A | CA451348216 | GABRR2 | c.1359C>T (p.Tyr453=) n.1190C>T c.1227C>T (p.Tyr409=) c.1062C>T (p.Tyr354=) | |
| 6 | g.89257709G>C | CA364954546 | GABRR2 | c.1359C>G (p.Tyr453Ter) n.1190C>G c.1227C>G (p.Tyr409Ter) c.1062C>G (p.Tyr354Ter) | |
| 6 | g.89257709G= | CA1645371230 | GABRR2 | c.1359C= (p.Tyr453=) n.1190C= c.1227C= (p.Tyr409=) c.1062C= (p.Tyr354=) | |
| 6 | g.89257709G>T | CA3920039 | GABRR2 | c.1359C>A (p.Tyr453Ter) n.1190C>A c.1227C>A (p.Tyr409Ter) c.1062C>A (p.Tyr354Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257710T>A | CA3920040 | GABRR2 | c.1358A>T (p.Tyr453Phe) n.1189A>T c.1226A>T (p.Tyr409Phe) c.1061A>T (p.Tyr354Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.89257710T>C | CA364954548 | GABRR2 | c.1358A>G (p.Tyr453Cys) n.1189A>G c.1226A>G (p.Tyr409Cys) c.1061A>G (p.Tyr354Cys) | |
| 6 | g.89257710T>G | CA364954547 | GABRR2 | c.1358A>C (p.Tyr453Ser) n.1189A>C c.1226A>C (p.Tyr409Ser) c.1061A>C (p.Tyr354Ser) | |
| 6 | g.89257710T= | CA1645371231 | GABRR2 | c.1358A= (p.Tyr453=) n.1189A= c.1226A= (p.Tyr409=) c.1061A= (p.Tyr354=) | |
| 6 | g.89257711A>C | CA364954549 | GABRR2 | c.1357T>G (p.Tyr453Asp) n.1188T>G c.1225T>G (p.Tyr409Asp) c.1060T>G (p.Tyr354Asp) | |
| 6 | g.89257711A>G | CA364954550 | GABRR2 | c.1357T>C (p.Tyr453His) n.1188T>C c.1225T>C (p.Tyr409His) c.1060T>C (p.Tyr354His) | |
| 6 | g.89257711A>T | CA364954551 | GABRR2 | c.1357T>A (p.Tyr453Asn) n.1188T>A c.1225T>A (p.Tyr409Asn) c.1060T>A (p.Tyr354Asn) | |
| 6 | g.89257714_89257716del | CA2679657146 | GABRR2 | c.1355_1357del (p.Ser452del) n.1186_1188del c.1223_1225del (p.Ser408del) c.1058_1060del (p.Ser353del) | gnomAD v4 |
| 6 | g.89257712G>A | CA451348222 | GABRR2 | c.1356C>T (p.Ser452=) n.1187C>T c.1224C>T (p.Ser408=) c.1059C>T (p.Ser353=) | |
| 6 | g.89257712G>C | CA451348224 | GABRR2 | c.1356C>G (p.Ser452=) n.1187C>G c.1224C>G (p.Ser408=) c.1059C>G (p.Ser353=) | |
| 6 | g.89257712G>T | CA451348226 | GABRR2 | c.1356C>A (p.Ser452=) n.1187C>A c.1224C>A (p.Ser408=) c.1059C>A (p.Ser353=) | |
| 6 | g.89257713G>A | CA3920041 | GABRR2 | c.1355C>T (p.Ser452Phe) n.1186C>T c.1223C>T (p.Ser408Phe) c.1058C>T (p.Ser353Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.89257713G>C | CA364954552 | GABRR2 | c.1355C>G (p.Ser452Cys) n.1186C>G c.1223C>G (p.Ser408Cys) c.1058C>G (p.Ser353Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.89257713G= | CA1645371232 | GABRR2 | c.1355C= (p.Ser452=) n.1186C= c.1223C= (p.Ser408=) c.1058C= (p.Ser353=) | |
| 6 | g.89257713G>T | CA364954553 | GABRR2 | c.1355C>A (p.Ser452Tyr) n.1186C>A c.1223C>A (p.Ser408Tyr) c.1058C>A (p.Ser353Tyr) | |
| 6 | g.89257714A>C | CA364954554 | GABRR2 | c.1354T>G (p.Ser452Ala) n.1185T>G c.1222T>G (p.Ser408Ala) c.1057T>G (p.Ser353Ala) | |
| 6 | g.89257714A>G | CA364954555 | GABRR2 | c.1354T>C (p.Ser452Pro) n.1185T>C c.1222T>C (p.Ser408Pro) c.1057T>C (p.Ser353Pro) | |
| 6 | g.89257714A>T | CA364954556 | GABRR2 | c.1354T>A (p.Ser452Thr) n.1185T>A c.1222T>A (p.Ser408Thr) c.1057T>A (p.Ser353Thr) | |
| 6 | g.89257715G>A | CA451348228 | GABRR2 | c.1353C>T (p.Ala451=) n.1184C>T c.1221C>T (p.Ala407=) c.1056C>T (p.Ala352=) | |
| 6 | g.89257715G>C | CA451348230 | GABRR2 | c.1353C>G (p.Ala451=) n.1184C>G c.1221C>G (p.Ala407=) c.1056C>G (p.Ala352=) | |
| 6 | g.89257715G>T | CA451348232 | GABRR2 | c.1353C>A (p.Ala451=) n.1184C>A c.1221C>A (p.Ala407=) c.1056C>A (p.Ala352=) | dbSNP |
| 6 | g.89257716G>A | CA364954557 | GABRR2 | c.1352C>T (p.Ala451Val) n.1183C>T c.1220C>T (p.Ala407Val) c.1055C>T (p.Ala352Val) | |
| 6 | g.89257716G>C | CA364954558 | GABRR2 | c.1352C>G (p.Ala451Gly) n.1183C>G c.1220C>G (p.Ala407Gly) c.1055C>G (p.Ala352Gly) | |
| 6 | g.89257716G>T | CA364954559 | GABRR2 | c.1352C>A (p.Ala451Asp) n.1183C>A c.1220C>A (p.Ala407Asp) c.1055C>A (p.Ala352Asp) | |
| 6 | g.89257717C>A | CA364954562 | GABRR2 | c.1351G>T (p.Ala451Ser) n.1182G>T c.1219G>T (p.Ala407Ser) c.1054G>T (p.Ala352Ser) | |
| 6 | g.89257717C>G | CA364954560 | GABRR2 | c.1351G>C (p.Ala451Pro) n.1182G>C c.1219G>C (p.Ala407Pro) c.1054G>C (p.Ala352Pro) | |
| 6 | g.89257717C>T | CA364954561 | GABRR2 | c.1351G>A (p.Ala451Thr) n.1182G>A c.1219G>A (p.Ala407Thr) c.1054G>A (p.Ala352Thr) | |
| 6 | g.89257718A>C | CA451348237 | GABRR2 | c.1350T>G (p.Pro450=) n.1181T>G c.1218T>G (p.Pro406=) c.1053T>G (p.Pro351=) | gnomAD v4 |
| 6 | g.89257718A>G | CA451348239 | GABRR2 | c.1350T>C (p.Pro450=) n.1181T>C c.1218T>C (p.Pro406=) c.1053T>C (p.Pro351=) | |
| 6 | g.89257718A>T | CA451348243 | GABRR2 | c.1350T>A (p.Pro450=) n.1181T>A c.1218T>A (p.Pro406=) c.1053T>A (p.Pro351=) | |
| 6 | g.89257719G>A | CA364954563 | GABRR2 | c.1349C>T (p.Pro450Leu) n.1180C>T c.1217C>T (p.Pro406Leu) c.1052C>T (p.Pro351Leu) | |
| 6 | g.89257719G>C | CA364954564 | GABRR2 | c.1349C>G (p.Pro450Arg) n.1180C>G c.1217C>G (p.Pro406Arg) c.1052C>G (p.Pro351Arg) | |
| 6 | g.89257719G>T | CA364954565 | GABRR2 | c.1349C>A (p.Pro450His) n.1180C>A c.1217C>A (p.Pro406His) c.1052C>A (p.Pro351His) | gnomAD v4 |
| 6 | g.89257720G>A | CA364954566 | GABRR2 | c.1348C>T (p.Pro450Ser) n.1179C>T c.1216C>T (p.Pro406Ser) c.1051C>T (p.Pro351Ser) | dbSNP gnomAD v4 |
| 6 | g.89257720G>C | CA364954567 | GABRR2 | c.1348C>G (p.Pro450Ala) n.1179C>G c.1216C>G (p.Pro406Ala) c.1051C>G (p.Pro351Ala) | |
| 6 | g.89257720G= | CA1645371233 | GABRR2 | c.1348C= (p.Pro450=) n.1179C= c.1216C= (p.Pro406=) c.1051C= (p.Pro351=) | |
| 6 | g.89257720G>T | CA364954568 | GABRR2 | c.1348C>A (p.Pro450Thr) n.1179C>A c.1216C>A (p.Pro406Thr) c.1051C>A (p.Pro351Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.89257721G>A | CA3920042 | GABRR2 | c.1347C>T (p.Phe449=) n.1178C>T c.1215C>T (p.Phe405=) c.1050C>T (p.Phe350=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257721G>C | CA364954570 | GABRR2 | c.1347C>G (p.Phe449Leu) n.1178C>G c.1215C>G (p.Phe405Leu) c.1050C>G (p.Phe350Leu) | |
| 6 | g.89257721G= | CA1645371234 | GABRR2 | c.1347C= (p.Phe449=) n.1178C= c.1215C= (p.Phe405=) c.1050C= (p.Phe350=) | |
| 6 | g.89257721G>T | CA364954569 | GABRR2 | c.1347C>A (p.Phe449Leu) n.1178C>A c.1215C>A (p.Phe405Leu) c.1050C>A (p.Phe350Leu) | |
| 6 | g.89257722A= | CA1645371235 | GABRR2 | c.1346T= (p.Phe449=) n.1177T= c.1214T= (p.Phe405=) c.1049T= (p.Phe350=) | |
| 6 | g.89257722A>C | CA364954571 | GABRR2 | c.1346T>G (p.Phe449Cys) n.1177T>G c.1214T>G (p.Phe405Cys) c.1049T>G (p.Phe350Cys) | |
| 6 | g.89257722A>G | CA364954572 | GABRR2 | c.1346T>C (p.Phe449Ser) n.1177T>C c.1214T>C (p.Phe405Ser) c.1049T>C (p.Phe350Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.89257722A>T | CA364954573 | GABRR2 | c.1346T>A (p.Phe449Tyr) n.1177T>A c.1214T>A (p.Phe405Tyr) c.1049T>A (p.Phe350Tyr) | |
| 6 | g.89257723A>C | CA364954574 | GABRR2 | c.1345T>G (p.Phe449Val) n.1176T>G c.1213T>G (p.Phe405Val) c.1048T>G (p.Phe350Val) | |
| 6 | g.89257723A>G | CA364954575 | GABRR2 | c.1345T>C (p.Phe449Leu) n.1176T>C c.1213T>C (p.Phe405Leu) c.1048T>C (p.Phe350Leu) | gnomAD v4 |
| 6 | g.89257723A>T | CA364954576 | GABRR2 | c.1345T>A (p.Phe449Ile) n.1176T>A c.1213T>A (p.Phe405Ile) c.1048T>A (p.Phe350Ile) | |
| 6 | g.89257724T>A | CA451348268 | GABRR2 | c.1344A>T (p.Ile448=) n.1175A>T c.1212A>T (p.Ile404=) c.1047A>T (p.Ile349=) | |
| 6 | g.89257724T>C | CA364954577 | GABRR2 | c.1344A>G (p.Ile448Met) n.1175A>G c.1212A>G (p.Ile404Met) c.1047A>G (p.Ile349Met) | |
| 6 | g.89257724T>G | CA451348269 | GABRR2 | c.1344A>C (p.Ile448=) n.1175A>C c.1212A>C (p.Ile404=) c.1047A>C (p.Ile349=) | |
| 6 | g.89257725A>C | CA364954578 | GABRR2 | c.1343T>G (p.Ile448Arg) n.1174T>G c.1211T>G (p.Ile404Arg) c.1046T>G (p.Ile349Arg) | |
| 6 | g.89257725A>G | CA364954580 | GABRR2 | c.1343T>C (p.Ile448Thr) n.1174T>C c.1211T>C (p.Ile404Thr) c.1046T>C (p.Ile349Thr) | |
| 6 | g.89257725A>T | CA364954579 | GABRR2 | c.1343T>A (p.Ile448Lys) n.1174T>A c.1211T>A (p.Ile404Lys) c.1046T>A (p.Ile349Lys) | |
| 6 | g.89257726T>A | CA364954581 | GABRR2 | c.1342A>T (p.Ile448Leu) n.1173A>T c.1210A>T (p.Ile404Leu) c.1045A>T (p.Ile349Leu) | |
| 6 | g.89257726T>C | CA364954582 | GABRR2 | c.1342A>G (p.Ile448Val) n.1173A>G c.1210A>G (p.Ile404Val) c.1045A>G (p.Ile349Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257726T>G | CA364954583 | GABRR2 | c.1342A>C (p.Ile448Leu) n.1173A>C c.1210A>C (p.Ile404Leu) c.1045A>C (p.Ile349Leu) | |
| 6 | g.89257726T= | CA1645371236 | GABRR2 | c.1342A= (p.Ile448=) n.1173A= c.1210A= (p.Ile404=) c.1045A= (p.Ile349=) | |
| 6 | g.89257727C>A | CA364954584 | GABRR2 | c.1341G>T (p.Leu447Phe) n.1172G>T c.1209G>T (p.Leu403Phe) c.1044G>T (p.Leu348Phe) | |
| 6 | g.89257727C>G | CA364954585 | GABRR2 | c.1341G>C (p.Leu447Phe) n.1172G>C c.1209G>C (p.Leu403Phe) c.1044G>C (p.Leu348Phe) | |
| 6 | g.89257727C>T | CA451348279 | GABRR2 | c.1341G>A (p.Leu447=) n.1172G>A c.1209G>A (p.Leu403=) c.1044G>A (p.Leu348=) | |
| 6 | g.89257728A>C | CA364954586 | GABRR2 | c.1340T>G (p.Leu447Trp) n.1171T>G c.1208T>G (p.Leu403Trp) c.1043T>G (p.Leu348Trp) | |
| 6 | g.89257728A>G | CA364954587 | GABRR2 | c.1340T>C (p.Leu447Ser) n.1171T>C c.1208T>C (p.Leu403Ser) c.1043T>C (p.Leu348Ser) | gnomAD v4 |
| 6 | g.89257728A>T | CA364954588 | GABRR2 | c.1340T>A (p.Leu447Ter) n.1171T>A c.1208T>A (p.Leu403Ter) c.1043T>A (p.Leu348Ter) | |
| 6 | g.89257729A>C | CA364954589 | GABRR2 | c.1339T>G (p.Leu447Val) n.1170T>G c.1207T>G (p.Leu403Val) c.1042T>G (p.Leu348Val) | |
| 6 | g.89257729A>G | CA451348280 | GABRR2 | c.1339T>C (p.Leu447=) n.1170T>C c.1207T>C (p.Leu403=) c.1042T>C (p.Leu348=) | |
| 6 | g.89257729A>T | CA364954590 | GABRR2 | c.1339T>A (p.Leu447Met) n.1170T>A c.1207T>A (p.Leu403Met) c.1042T>A (p.Leu348Met) | |
| 6 | g.89257730C>A | CA364954591 | GABRR2 | c.1338G>T (p.Arg446Ser) n.1169G>T c.1206G>T (p.Arg402Ser) c.1041G>T (p.Arg347Ser) | |
| 6 | g.89257730C>G | CA364954592 | GABRR2 | c.1338G>C (p.Arg446Ser) n.1169G>C c.1206G>C (p.Arg402Ser) c.1041G>C (p.Arg347Ser) | |
| 6 | g.89257730C>T | CA451348281 | GABRR2 | c.1338G>A (p.Arg446=) n.1169G>A c.1206G>A (p.Arg402=) c.1041G>A (p.Arg347=) | |
| 6 | g.89257731C>A | CA364954595 | GABRR2 | c.1337G>T (p.Arg446Met) n.1168G>T c.1205G>T (p.Arg402Met) c.1040G>T (p.Arg347Met) | |
| 6 | g.89257731C>G | CA364954593 | GABRR2 | c.1337G>C (p.Arg446Thr) n.1168G>C c.1205G>C (p.Arg402Thr) c.1040G>C (p.Arg347Thr) | |
| 6 | g.89257731C>T | CA364954594 | GABRR2 | c.1337G>A (p.Arg446Lys) n.1168G>A c.1205G>A (p.Arg402Lys) c.1040G>A (p.Arg347Lys) | gnomAD v4 |
| 6 | g.89257732T>A | CA364954596 | GABRR2 | c.1336A>T (p.Arg446Trp) n.1167A>T c.1204A>T (p.Arg402Trp) c.1039A>T (p.Arg347Trp) | |
| 6 | g.89257732T>C | CA364954597 | GABRR2 | c.1336A>G (p.Arg446Gly) n.1167A>G c.1204A>G (p.Arg402Gly) c.1039A>G (p.Arg347Gly) | |
| 6 | g.89257732T>G | CA451348292 | GABRR2 | c.1336A>C (p.Arg446=) n.1167A>C c.1204A>C (p.Arg402=) c.1039A>C (p.Arg347=) | |
| 6 | g.89257733A>C | CA451348293 | GABRR2 | c.1335T>G (p.Ser445=) n.1166T>G c.1203T>G (p.Ser401=) c.1038T>G (p.Ser346=) | gnomAD v4 |
| 6 | g.89257733A>G | CA451348294 | GABRR2 | c.1335T>C (p.Ser445=) n.1166T>C c.1203T>C (p.Ser401=) c.1038T>C (p.Ser346=) | |
| 6 | g.89257733A>T | CA451348295 | GABRR2 | c.1335T>A (p.Ser445=) n.1166T>A c.1203T>A (p.Ser401=) c.1038T>A (p.Ser346=) | |
| 6 | g.89257734G>A | CA364954598 | GABRR2 | c.1334C>T (p.Ser445Phe) n.1165C>T c.1202C>T (p.Ser401Phe) c.1037C>T (p.Ser346Phe) | gnomAD v4 |
| 6 | g.89257734G>C | CA364954599 | GABRR2 | c.1334C>G (p.Ser445Cys) n.1165C>G c.1202C>G (p.Ser401Cys) c.1037C>G (p.Ser346Cys) | |
| 6 | g.89257734G>T | CA364954600 | GABRR2 | c.1334C>A (p.Ser445Tyr) n.1165C>A c.1202C>A (p.Ser401Tyr) c.1037C>A (p.Ser346Tyr) | gnomAD v4 |
| 6 | g.89257735A>C | CA364954601 | GABRR2 | c.1333T>G (p.Ser445Ala) n.1164T>G c.1201T>G (p.Ser401Ala) c.1036T>G (p.Ser346Ala) | |
| 6 | g.89257735A>G | CA364954602 | GABRR2 | c.1333T>C (p.Ser445Pro) n.1164T>C c.1201T>C (p.Ser401Pro) c.1036T>C (p.Ser346Pro) | gnomAD v4 |
| 6 | g.89257735A>T | CA364954603 | GABRR2 | c.1333T>A (p.Ser445Thr) n.1164T>A c.1201T>A (p.Ser401Thr) c.1036T>A (p.Ser346Thr) | |
| 6 | g.89257736G>A | CA451348303 | GABRR2 | c.1332C>T (p.Tyr444=) n.1163C>T c.1200C>T (p.Tyr400=) c.1035C>T (p.Tyr345=) | |
| 6 | g.89257736G>C | CA364954604 | GABRR2 | c.1332C>G (p.Tyr444Ter) n.1163C>G c.1200C>G (p.Tyr400Ter) c.1035C>G (p.Tyr345Ter) | |
| 6 | g.89257736G>T | CA364954605 | GABRR2 | c.1332C>A (p.Tyr444Ter) n.1163C>A c.1200C>A (p.Tyr400Ter) c.1035C>A (p.Tyr345Ter) | |
| 6 | g.89257737T>A | CA364954606 | GABRR2 | c.1331A>T (p.Tyr444Phe) n.1162A>T c.1199A>T (p.Tyr400Phe) c.1034A>T (p.Tyr345Phe) | |
| 6 | g.89257737T>C | CA364954607 | GABRR2 | c.1331A>G (p.Tyr444Cys) n.1162A>G c.1199A>G (p.Tyr400Cys) c.1034A>G (p.Tyr345Cys) | |
| 6 | g.89257737T>G | CA364954608 | GABRR2 | c.1331A>C (p.Tyr444Ser) n.1162A>C c.1199A>C (p.Tyr400Ser) c.1034A>C (p.Tyr345Ser) | |
| 6 | g.89257738A>C | CA364954611 | GABRR2 | c.1330T>G (p.Tyr444Asp) n.1161T>G c.1198T>G (p.Tyr400Asp) c.1033T>G (p.Tyr345Asp) | |
| 6 | g.89257738A>G | CA364954610 | GABRR2 | c.1330T>C (p.Tyr444His) n.1161T>C c.1198T>C (p.Tyr400His) c.1033T>C (p.Tyr345His) | |
| 6 | g.89257738A>T | CA364954609 | GABRR2 | c.1330T>A (p.Tyr444Asn) n.1161T>A c.1198T>A (p.Tyr400Asn) c.1033T>A (p.Tyr345Asn) | |
| 6 | g.89257739T>A | CA364954612 | GABRR2 | c.1329A>T (p.Lys443Asn) n.1160A>T c.1197A>T (p.Lys399Asn) c.1032A>T (p.Lys344Asn) | |
| 6 | g.89257739T>C | CA451348315 | GABRR2 | c.1329A>G (p.Lys443=) n.1160A>G c.1197A>G (p.Lys399=) c.1032A>G (p.Lys344=) | |
| 6 | g.89257739T>G | CA364954613 | GABRR2 | c.1329A>C (p.Lys443Asn) n.1160A>C c.1197A>C (p.Lys399Asn) c.1032A>C (p.Lys344Asn) | |
| 6 | g.89257740T>A | CA364954614 | GABRR2 | c.1328A>T (p.Lys443Ile) n.1159A>T c.1196A>T (p.Lys399Ile) c.1031A>T (p.Lys344Ile) | |
| 6 | g.89257740T>C | CA364954615 | GABRR2 | c.1328A>G (p.Lys443Arg) n.1159A>G c.1196A>G (p.Lys399Arg) c.1031A>G (p.Lys344Arg) | |
| 6 | g.89257740T>G | CA364954616 | GABRR2 | c.1328A>C (p.Lys443Thr) n.1159A>C c.1196A>C (p.Lys399Thr) c.1031A>C (p.Lys344Thr) | |
| 6 | g.89257741T>A | CA364954617 | GABRR2 | c.1327A>T (p.Lys443Ter) n.1158A>T c.1195A>T (p.Lys399Ter) c.1030A>T (p.Lys344Ter) | |
| 6 | g.89257741T>C | CA364954618 | GABRR2 | c.1327A>G (p.Lys443Glu) n.1158A>G c.1195A>G (p.Lys399Glu) c.1030A>G (p.Lys344Glu) | |
| 6 | g.89257741T>G | CA364954619 | GABRR2 | c.1327A>C (p.Lys443Gln) n.1158A>C c.1195A>C (p.Lys399Gln) c.1030A>C (p.Lys344Gln) | |
| 6 | g.89257742G>A | CA451348330 | GABRR2 | c.1326C>T (p.Asp442=) n.1157C>T c.1194C>T (p.Asp398=) c.1029C>T (p.Asp343=) | |
| 6 | g.89257742G>C | CA364954620 | GABRR2 | c.1326C>G (p.Asp442Glu) n.1157C>G c.1194C>G (p.Asp398Glu) c.1029C>G (p.Asp343Glu) | |
| 6 | g.89257742G>T | CA364954621 | GABRR2 | c.1326C>A (p.Asp442Glu) n.1157C>A c.1194C>A (p.Asp398Glu) c.1029C>A (p.Asp343Glu) | |
| 6 | g.89257743T>A | CA364954622 | GABRR2 | c.1325A>T (p.Asp442Val) n.1156A>T c.1193A>T (p.Asp398Val) c.1028A>T (p.Asp343Val) | dbSNP |
| 6 | g.89257743T>C | CA142928521 | GABRR2 | c.1325A>G (p.Asp442Gly) n.1156A>G c.1193A>G (p.Asp398Gly) c.1028A>G (p.Asp343Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.89257743T>G | CA364954623 | GABRR2 | c.1325A>C (p.Asp442Ala) n.1156A>C c.1193A>C (p.Asp398Ala) c.1028A>C (p.Asp343Ala) | |
| 6 | g.89257743T= | CA1645371237 | GABRR2 | c.1325A= (p.Asp442=) n.1156A= c.1193A= (p.Asp398=) c.1028A= (p.Asp343=) | |
| 6 | g.89257744C>A | CA364954625 | GABRR2 | c.1324G>T (p.Asp442Tyr) n.1155G>T c.1192G>T (p.Asp398Tyr) c.1027G>T (p.Asp343Tyr) | gnomAD v4 |
| 6 | g.89257744C>G | CA364954626 | GABRR2 | c.1324G>C (p.Asp442His) n.1155G>C c.1192G>C (p.Asp398His) c.1027G>C (p.Asp343His) | |
| 6 | g.89257744C>T | CA364954624 | GABRR2 | c.1324G>A (p.Asp442Asn) n.1155G>A c.1192G>A (p.Asp398Asn) c.1027G>A (p.Asp343Asn) | |
| 6 | g.89257745A>C | CA364954627 | GABRR2 | c.1323T>G (p.Ile441Met) n.1154T>G c.1191T>G (p.Ile397Met) c.1026T>G (p.Ile342Met) | |
| 6 | g.89257745A>G | CA451348337 | GABRR2 | c.1323T>C (p.Ile441=) n.1154T>C c.1191T>C (p.Ile397=) c.1026T>C (p.Ile342=) | |
| 6 | g.89257745A>T | CA451348335 | GABRR2 | c.1323T>A (p.Ile441=) n.1154T>A c.1191T>A (p.Ile397=) c.1026T>A (p.Ile342=) | |
| 6 | g.89257746A= | CA1645371238 | GABRR2 | c.1322T= (p.Ile441=) n.1153T= c.1190T= (p.Ile397=) c.1025T= (p.Ile342=) | |
| 6 | g.89257746A>C | CA364954628 | GABRR2 | c.1322T>G (p.Ile441Ser) n.1153T>G c.1190T>G (p.Ile397Ser) c.1025T>G (p.Ile342Ser) | |
| 6 | g.89257746A>G | CA142928525 | GABRR2 | c.1322T>C (p.Ile441Thr) n.1153T>C c.1190T>C (p.Ile397Thr) c.1025T>C (p.Ile342Thr) | dbSNP gnomAD v4 |
| 6 | g.89257746A>T | CA364954629 | GABRR2 | c.1322T>A (p.Ile441Asn) n.1153T>A c.1190T>A (p.Ile397Asn) c.1025T>A (p.Ile342Asn) | |
| 6 | g.89257746_89257747insCTTAATTTAT | CA2563518409 | GABRR2 | c.1321_1322insATAAATTAAG (p.Ile441AsnfsTer5) n.1152_1153insATAAATTAAG c.1189_1190insATAAATTAAG (p.Ile397AsnfsTer5) c.1024_1025insATAAATTAAG (p.Ile342AsnfsTer5) | |
| 6 | g.89257747T>A | CA364954630 | GABRR2 | c.1321A>T (p.Ile441Phe) n.1152A>T c.1189A>T (p.Ile397Phe) c.1024A>T (p.Ile342Phe) | |
| 6 | g.89257747T>C | CA3920043 | GABRR2 | c.1321A>G (p.Ile441Val) n.1152A>G c.1189A>G (p.Ile397Val) c.1024A>G (p.Ile342Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.89257747T>G | CA364954631 | GABRR2 | c.1321A>C (p.Ile441Leu) n.1152A>C c.1189A>C (p.Ile397Leu) c.1024A>C (p.Ile342Leu) | |
| 6 | g.89257747T= | CA1645371239 | GABRR2 | c.1321A= (p.Ile441=) n.1152A= c.1189A= (p.Ile397=) c.1024A= (p.Ile342=) | |
| 6 | g.89257748G>A | CA3920044 | GABRR2 | c.1320C>T (p.Ala440=) n.1151C>T c.1188C>T (p.Ala396=) c.1023C>T (p.Ala341=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257748G>C | CA451348345 | GABRR2 | c.1320C>G (p.Ala440=) n.1151C>G c.1188C>G (p.Ala396=) c.1023C>G (p.Ala341=) | |
| 6 | g.89257748G= | CA1645371240 | GABRR2 | c.1320C= (p.Ala440=) n.1151C= c.1188C= (p.Ala396=) c.1023C= (p.Ala341=) | |
| 6 | g.89257748G>T | CA451348346 | GABRR2 | c.1320C>A (p.Ala440=) n.1151C>A c.1188C>A (p.Ala396=) c.1023C>A (p.Ala341=) | |
| 6 | g.89257749G>A | CA3920045 | GABRR2 | c.1319C>T (p.Ala440Val) n.1150C>T c.1187C>T (p.Ala396Val) c.1022C>T (p.Ala341Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.89257749G>C | CA364954632 | GABRR2 | c.1319C>G (p.Ala440Gly) n.1150C>G c.1187C>G (p.Ala396Gly) c.1022C>G (p.Ala341Gly) | |
| 6 | g.89257749G= | CA1645371241 | GABRR2 | c.1319C= (p.Ala440=) n.1150C= c.1187C= (p.Ala396=) c.1022C= (p.Ala341=) | |
| 6 | g.89257749G>T | CA364954633 | GABRR2 | c.1319C>A (p.Ala440Asp) n.1150C>A c.1187C>A (p.Ala396Asp) c.1022C>A (p.Ala341Asp) | dbSNP gnomAD v4 |
| 6 | g.89257750C>A | CA364954634 | GABRR2 | c.1318G>T (p.Ala440Ser) n.1149G>T c.1186G>T (p.Ala396Ser) c.1021G>T (p.Ala341Ser) | |
| 6 | g.89257750C>G | CA364954635 | GABRR2 | c.1318G>C (p.Ala440Pro) n.1149G>C c.1186G>C (p.Ala396Pro) c.1021G>C (p.Ala341Pro) | |
| 6 | g.89257750C>T | CA364954636 | GABRR2 | c.1318G>A (p.Ala440Thr) n.1149G>A c.1186G>A (p.Ala396Thr) c.1021G>A (p.Ala341Thr) | |
| 6 | g.89257751A>C | CA364954638 | GABRR2 | c.1317T>G (p.His439Gln) n.1148T>G c.1185T>G (p.His395Gln) c.1020T>G (p.His340Gln) | gnomAD v4 |
| 6 | g.89257751A>G | CA451348353 | GABRR2 | c.1317T>C (p.His439=) n.1148T>C c.1185T>C (p.His395=) c.1020T>C (p.His340=) | |
| 6 | g.89257751A>T | CA364954637 | GABRR2 | c.1317T>A (p.His439Gln) n.1148T>A c.1185T>A (p.His395Gln) c.1020T>A (p.His340Gln) | |
| 6 | g.89257752T>A | CA364954639 | GABRR2 | c.1316A>T (p.His439Leu) n.1147A>T c.1184A>T (p.His395Leu) c.1019A>T (p.His340Leu) | |
| 6 | g.89257752T>C | CA364954640 | GABRR2 | c.1316A>G (p.His439Arg) n.1147A>G c.1184A>G (p.His395Arg) c.1019A>G (p.His340Arg) | |
| 6 | g.89257752T>G | CA364954641 | GABRR2 | c.1316A>C (p.His439Pro) n.1147A>C c.1184A>C (p.His395Pro) c.1019A>C (p.His340Pro) | |
| 6 | g.89257753G>A | CA364954642 | GABRR2 | c.1315C>T (p.His439Tyr) n.1146C>T c.1183C>T (p.His395Tyr) c.1018C>T (p.His340Tyr) | |
| 6 | g.89257753G>C | CA364954643 | GABRR2 | c.1315C>G (p.His439Asp) n.1146C>G c.1183C>G (p.His395Asp) c.1018C>G (p.His340Asp) | |
| 6 | g.89257753G>T | CA364954644 | GABRR2 | c.1315C>A (p.His439Asn) n.1146C>A c.1183C>A (p.His395Asn) c.1018C>A (p.His340Asn) | |
| 6 | g.89257754G>A | CA451348359 | GABRR2 | c.1314C>T (p.Thr438=) n.1145C>T c.1182C>T (p.Thr394=) c.1017C>T (p.Thr339=) | |
| 6 | g.89257754G>C | CA451348360 | GABRR2 | c.1314C>G (p.Thr438=) n.1145C>G c.1182C>G (p.Thr394=) c.1017C>G (p.Thr339=) | |
| 6 | g.89257754G>T | CA451348362 | GABRR2 | c.1314C>A (p.Thr438=) n.1145C>A c.1182C>A (p.Thr394=) c.1017C>A (p.Thr339=) | |
| 6 | g.89257755G>A | CA364954646 | GABRR2 | c.1313C>T (p.Thr438Ile) n.1144C>T c.1181C>T (p.Thr394Ile) c.1016C>T (p.Thr339Ile) | gnomAD v4 |
| 6 | g.89257755G>C | CA3920046 | GABRR2 | c.1313C>G (p.Thr438Ser) n.1144C>G c.1181C>G (p.Thr394Ser) c.1016C>G (p.Thr339Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257755G= | CA1645371242 | GABRR2 | c.1313C= (p.Thr438=) n.1144C= c.1181C= (p.Thr394=) c.1016C= (p.Thr339=) | |
| 6 | g.89257755G>T | CA364954645 | GABRR2 | c.1313C>A (p.Thr438Asn) n.1144C>A c.1181C>A (p.Thr394Asn) c.1016C>A (p.Thr339Asn) | |
| 6 | g.89257756T>A | CA364954647 | GABRR2 | c.1312A>T (p.Thr438Ser) n.1143A>T c.1180A>T (p.Thr394Ser) c.1015A>T (p.Thr339Ser) | |
| 6 | g.89257756T>C | CA364954648 | GABRR2 | c.1312A>G (p.Thr438Ala) n.1143A>G c.1180A>G (p.Thr394Ala) c.1015A>G (p.Thr339Ala) | |
| 6 | g.89257756T>G | CA364954649 | GABRR2 | c.1312A>C (p.Thr438Pro) n.1143A>C c.1180A>C (p.Thr394Pro) c.1015A>C (p.Thr339Pro) | |
| 6 | g.89257757A>C | CA364954650 | GABRR2 | c.1311T>G (p.Asn437Lys) n.1142T>G c.1179T>G (p.Asn393Lys) c.1014T>G (p.Asn338Lys) | |
| 6 | g.89257757A>G | CA451348365 | GABRR2 | c.1311T>C (p.Asn437=) n.1142T>C c.1179T>C (p.Asn393=) c.1014T>C (p.Asn338=) | dbSNP gnomAD v4 |
| 6 | g.89257757A>T | CA364954651 | GABRR2 | c.1311T>A (p.Asn437Lys) n.1142T>A c.1179T>A (p.Asn393Lys) c.1014T>A (p.Asn338Lys) | |
| 6 | g.89257758T>A | CA364954652 | GABRR2 | c.1310A>T (p.Asn437Ile) n.1141A>T c.1178A>T (p.Asn393Ile) c.1013A>T (p.Asn338Ile) | |
| 6 | g.89257758T>C | CA364954654 | GABRR2 | c.1310A>G (p.Asn437Ser) n.1141A>G c.1178A>G (p.Asn393Ser) c.1013A>G (p.Asn338Ser) | |
| 6 | g.89257758T>G | CA364954653 | GABRR2 | c.1310A>C (p.Asn437Thr) n.1141A>C c.1178A>C (p.Asn393Thr) c.1013A>C (p.Asn338Thr) | |
| 6 | g.89257759T>A | CA364954655 | GABRR2 | c.1309A>T (p.Asn437Tyr) n.1140A>T c.1177A>T (p.Asn393Tyr) c.1012A>T (p.Asn338Tyr) | |
| 6 | g.89257759T>C | CA364954656 | GABRR2 | c.1309A>G (p.Asn437Asp) n.1140A>G c.1177A>G (p.Asn393Asp) c.1012A>G (p.Asn338Asp) | |
| 6 | g.89257759T>G | CA364954657 | GABRR2 | c.1309A>C (p.Asn437His) n.1140A>C c.1177A>C (p.Asn393His) c.1012A>C (p.Asn338His) | |
| 6 | g.89257760C>A | CA364954658 | GABRR2 | c.1308G>T (p.Gln436His) n.1139G>T c.1176G>T (p.Gln392His) c.1011G>T (p.Gln337His) | |
| 6 | g.89257760C>G | CA364954659 | GABRR2 | c.1308G>C (p.Gln436His) n.1139G>C c.1176G>C (p.Gln392His) c.1011G>C (p.Gln337His) | |
| 6 | g.89257760C>T | CA451348377 | GABRR2 | c.1308G>A (p.Gln436=) n.1139G>A c.1176G>A (p.Gln392=) c.1011G>A (p.Gln337=) | |
| 6 | g.89257761T>A | CA364954660 | GABRR2 | c.1307A>T (p.Gln436Leu) n.1138A>T c.1175A>T (p.Gln392Leu) c.1010A>T (p.Gln337Leu) | |
| 6 | g.89257761T>C | CA364954661 | GABRR2 | c.1307A>G (p.Gln436Arg) n.1138A>G c.1175A>G (p.Gln392Arg) c.1010A>G (p.Gln337Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257761T>G | CA364954662 | GABRR2 | c.1307A>C (p.Gln436Pro) n.1138A>C c.1175A>C (p.Gln392Pro) c.1010A>C (p.Gln337Pro) | gnomAD v4 |
| 6 | g.89257761T= | CA1645371243 | GABRR2 | c.1307A= (p.Gln436=) n.1138A= c.1175A= (p.Gln392=) c.1010A= (p.Gln337=) | |
| 6 | g.89257762G>A | CA364954663 | GABRR2 | c.1306C>T (p.Gln436Ter) n.1137C>T c.1174C>T (p.Gln392Ter) c.1009C>T (p.Gln337Ter) | |
| 6 | g.89257762G>C | CA364954664 | GABRR2 | c.1306C>G (p.Gln436Glu) n.1137C>G c.1174C>G (p.Gln392Glu) c.1009C>G (p.Gln337Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.89257762G= | CA1645371244 | GABRR2 | c.1306C= (p.Gln436=) n.1137C= c.1174C= (p.Gln392=) c.1009C= (p.Gln337=) | |
| 6 | g.89257762G>T | CA364954665 | GABRR2 | c.1306C>A (p.Gln436Lys) n.1137C>A c.1174C>A (p.Gln392Lys) c.1009C>A (p.Gln337Lys) | gnomAD v4 |
| 6 | g.89257763G>A | CA451348381 | GABRR2 | c.1305C>T (p.Phe435=) n.1136C>T c.1173C>T (p.Phe391=) c.1008C>T (p.Phe336=) | |
| 6 | g.89257763G>C | CA364954666 | GABRR2 | c.1305C>G (p.Phe435Leu) n.1136C>G c.1173C>G (p.Phe391Leu) c.1008C>G (p.Phe336Leu) | |
| 6 | g.89257763G>T | CA364954667 | GABRR2 | c.1305C>A (p.Phe435Leu) n.1136C>A c.1173C>A (p.Phe391Leu) c.1008C>A (p.Phe336Leu) | |
| 6 | g.89257764A>C | CA364954668 | GABRR2 | c.1304T>G (p.Phe435Cys) n.1135T>G c.1172T>G (p.Phe391Cys) c.1007T>G (p.Phe336Cys) | |
| 6 | g.89257764A>G | CA364954670 | GABRR2 | c.1304T>C (p.Phe435Ser) n.1135T>C c.1172T>C (p.Phe391Ser) c.1007T>C (p.Phe336Ser) | gnomAD v4 |
| 6 | g.89257764A>T | CA364954669 | GABRR2 | c.1304T>A (p.Phe435Tyr) n.1135T>A c.1172T>A (p.Phe391Tyr) c.1007T>A (p.Phe336Tyr) | |
| 6 | g.89257765del | CA2679657147 | GABRR2 | c.1304del (p.Phe435SerfsTer13) n.1135del c.1172del (p.Phe391SerfsTer13) c.1007del (p.Phe336SerfsTer13) | gnomAD v4 |
| 6 | g.89257765A>C | CA364954671 | GABRR2 | c.1303T>G (p.Phe435Val) n.1134T>G c.1171T>G (p.Phe391Val) c.1006T>G (p.Phe336Val) | |
| 6 | g.89257765A>G | CA364954672 | GABRR2 | c.1303T>C (p.Phe435Leu) n.1134T>C c.1171T>C (p.Phe391Leu) c.1006T>C (p.Phe336Leu) | |
| 6 | g.89257765A>T | CA364954673 | GABRR2 | c.1303T>A (p.Phe435Ile) n.1134T>A c.1171T>A (p.Phe391Ile) c.1006T>A (p.Phe336Ile) | |
| 6 | g.89257766G>A | CA451348394 | GABRR2 | c.1302C>T (p.Ile434=) n.1133C>T c.1170C>T (p.Ile390=) c.1005C>T (p.Ile335=) | |
| 6 | g.89257766G>C | CA364954674 | GABRR2 | c.1302C>G (p.Ile434Met) n.1133C>G c.1170C>G (p.Ile390Met) c.1005C>G (p.Ile335Met) | gnomAD v4 |
| 6 | g.89257766G= | CA1645371245 | GABRR2 | c.1302C= (p.Ile434=) n.1133C= c.1170C= (p.Ile390=) c.1005C= (p.Ile335=) | |
| 6 | g.89257766G>T | CA142928572 | GABRR2 | c.1302C>A (p.Ile434=) n.1133C>A c.1170C>A (p.Ile390=) c.1005C>A (p.Ile335=) | dbSNP gnomAD v4 |
| 6 | g.89257767A= | CA1645371246 | GABRR2 | c.1301T= (p.Ile434=) n.1132T= c.1169T= (p.Ile390=) c.1004T= (p.Ile335=) | |
| 6 | g.89257767A>C | CA364954675 | GABRR2 | c.1301T>G (p.Ile434Ser) n.1132T>G c.1169T>G (p.Ile390Ser) c.1004T>G (p.Ile335Ser) | |
| 6 | g.89257767A>G | CA364954676 | GABRR2 | c.1301T>C (p.Ile434Thr) n.1132T>C c.1169T>C (p.Ile390Thr) c.1004T>C (p.Ile335Thr) | dbSNP gnomAD v4 |
| 6 | g.89257767A>T | CA364954677 | GABRR2 | c.1301T>A (p.Ile434Asn) n.1132T>A c.1169T>A (p.Ile390Asn) c.1004T>A (p.Ile335Asn) | gnomAD v4 |
| 6 | g.89257768T>A | CA364954678 | GABRR2 | c.1300A>T (p.Ile434Phe) n.1131A>T c.1168A>T (p.Ile390Phe) c.1003A>T (p.Ile335Phe) | |
| 6 | g.89257768T>C | CA364954679 | GABRR2 | c.1300A>G (p.Ile434Val) n.1131A>G c.1168A>G (p.Ile390Val) c.1003A>G (p.Ile335Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.89257768T>G | CA364954680 | GABRR2 | c.1300A>C (p.Ile434Leu) n.1131A>C c.1168A>C (p.Ile390Leu) c.1003A>C (p.Ile335Leu) | |
| 6 | g.89257768T= | CA1645371247 | GABRR2 | c.1300A= (p.Ile434=) n.1131A= c.1168A= (p.Ile390=) c.1003A= (p.Ile335=) | |
| 6 | g.89257769A= | CA1645371248 | GABRR2 | c.1299T= (p.Arg433=) n.1130T= c.1167T= (p.Arg389=) c.1002T= (p.Arg334=) | |
| 6 | g.89257769A>C | CA451348406 | GABRR2 | c.1299T>G (p.Arg433=) n.1130T>G c.1167T>G (p.Arg389=) c.1002T>G (p.Arg334=) | |
| 6 | g.89257769A>G | CA451348404 | GABRR2 | c.1299T>C (p.Arg433=) n.1130T>C c.1167T>C (p.Arg389=) c.1002T>C (p.Arg334=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.89257769A>T | CA451348405 | GABRR2 | c.1299T>A (p.Arg433=) n.1130T>A c.1167T>A (p.Arg389=) c.1002T>A (p.Arg334=) | COSMIC COSMIC |
| 6 | g.89257770C>A | CA142928574 | GABRR2 | c.1298G>T (p.Arg433Leu) n.1129G>T c.1166G>T (p.Arg389Leu) c.1001G>T (p.Arg334Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257770C= | CA1645371249 | GABRR2 | c.1298G= (p.Arg433=) n.1129G= c.1166G= (p.Arg389=) c.1001G= (p.Arg334=) | |
| 6 | g.89257770C>G | CA142928575 | GABRR2 | c.1298G>C (p.Arg433Pro) n.1129G>C c.1166G>C (p.Arg389Pro) c.1001G>C (p.Arg334Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.89257770C>T | CA3920047 | GABRR2 | c.1298G>A (p.Arg433His) n.1129G>A c.1166G>A (p.Arg389His) c.1001G>A (p.Arg334His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257771G>A | CA3920048 | GABRR2 | c.1297C>T (p.Arg433Cys) n.1128C>T c.1165C>T (p.Arg389Cys) c.1000C>T (p.Arg334Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.89257771G>C | CA364954682 | GABRR2 | c.1297C>G (p.Arg433Gly) n.1128C>G c.1165C>G (p.Arg389Gly) c.1000C>G (p.Arg334Gly) | |
| 6 | g.89257771G= | CA1645371250 | GABRR2 | c.1297C= (p.Arg433=) n.1128C= c.1165C= (p.Arg389=) c.1000C= (p.Arg334=) | |
| 6 | g.89257771G>T | CA364954681 | GABRR2 | c.1297C>A (p.Arg433Ser) n.1128C>A c.1165C>A (p.Arg389Ser) c.1000C>A (p.Arg334Ser) | |
| 6 | g.89257772A>C | CA364954683 | GABRR2 | c.1296T>G (p.Phe432Leu) n.1127T>G c.1164T>G (p.Phe388Leu) c.999T>G (p.Phe333Leu) | gnomAD v4 |
| 6 | g.89257772A>G | CA451348414 | GABRR2 | c.1296T>C (p.Phe432=) n.1127T>C c.1164T>C (p.Phe388=) c.999T>C (p.Phe333=) | |
| 6 | g.89257772A>T | CA364954684 | GABRR2 | c.1296T>A (p.Phe432Leu) n.1127T>A c.1164T>A (p.Phe388Leu) c.999T>A (p.Phe333Leu) | |
| 6 | g.89257773A= | CA1645371251 | GABRR2 | c.1295T= (p.Phe432=) n.1126T= c.1163T= (p.Phe388=) c.998T= (p.Phe333=) | |
| 6 | g.89257773A>C | CA364954685 | GABRR2 | c.1295T>G (p.Phe432Cys) n.1126T>G c.1163T>G (p.Phe388Cys) c.998T>G (p.Phe333Cys) | |
| 6 | g.89257773A>G | CA364954686 | GABRR2 | c.1295T>C (p.Phe432Ser) n.1126T>C c.1163T>C (p.Phe388Ser) c.998T>C (p.Phe333Ser) | |
| 6 | g.89257773A>T | CA364954687 | GABRR2 | c.1295T>A (p.Phe432Tyr) n.1126T>A c.1163T>A (p.Phe388Tyr) c.998T>A (p.Phe333Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.89257774A>C | CA364954688 | GABRR2 | c.1294T>G (p.Phe432Val) n.1125T>G c.1162T>G (p.Phe388Val) c.997T>G (p.Phe333Val) | |
| 6 | g.89257774A>G | CA364954689 | GABRR2 | c.1294T>C (p.Phe432Leu) n.1125T>C c.1162T>C (p.Phe388Leu) c.997T>C (p.Phe333Leu) | |
| 6 | g.89257774A>T | CA364954690 | GABRR2 | c.1294T>A (p.Phe432Ile) n.1125T>A c.1162T>A (p.Phe388Ile) c.997T>A (p.Phe333Ile) | |
| 6 | g.89257775A= | CA1645371252 | GABRR2 | c.1293T= (p.Gly431=) n.1124T= c.1161T= (p.Gly387=) c.996T= (p.Gly332=) | |
| 6 | g.89257775A>C | CA451348419 | GABRR2 | c.1293T>G (p.Gly431=) n.1124T>G c.1161T>G (p.Gly387=) c.996T>G (p.Gly332=) | dbSNP |
| 6 | g.89257775A>G | CA451348420 | GABRR2 | c.1293T>C (p.Gly431=) n.1124T>C c.1161T>C (p.Gly387=) c.996T>C (p.Gly332=) | dbSNP |
| 6 | g.89257775A>T | CA451348421 | GABRR2 | c.1293T>A (p.Gly431=) n.1124T>A c.1161T>A (p.Gly387=) c.996T>A (p.Gly332=) | |
| 6 | g.89257776C>A | CA364954691 | GABRR2 | c.1292G>T (p.Gly431Val) n.1123G>T c.1160G>T (p.Gly387Val) c.995G>T (p.Gly332Val) | |
| 6 | g.89257776C= | CA1645371253 | GABRR2 | c.1292G= (p.Gly431=) n.1123G= c.1160G= (p.Gly387=) c.995G= (p.Gly332=) | |
| 6 | g.89257776C>G | CA142928583 | GABRR2 | c.1292G>C (p.Gly431Ala) n.1123G>C c.1160G>C (p.Gly387Ala) c.995G>C (p.Gly332Ala) | dbSNP gnomAD v4 |
| 6 | g.89257776C>T | CA364954692 | GABRR2 | c.1292G>A (p.Gly431Asp) n.1123G>A c.1160G>A (p.Gly387Asp) c.995G>A (p.Gly332Asp) | gnomAD v4 |
| 6 | g.89257777C>A | CA3920049 | GABRR2 | c.1291G>T (p.Gly431Cys) n.1122G>T c.1159G>T (p.Gly387Cys) c.994G>T (p.Gly332Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257777C= | CA1645371254 | GABRR2 | c.1291G= (p.Gly431=) n.1122G= c.1159G= (p.Gly387=) c.994G= (p.Gly332=) | |
| 6 | g.89257777C>G | CA364954693 | GABRR2 | c.1291G>C (p.Gly431Arg) n.1122G>C c.1159G>C (p.Gly387Arg) c.994G>C (p.Gly332Arg) | |
| 6 | g.89257777C>T | CA364954694 | GABRR2 | c.1291G>A (p.Gly431Ser) n.1122G>A c.1159G>A (p.Gly387Ser) c.994G>A (p.Gly332Ser) | |
| 6 | g.89257778C>A | CA451348430 | GABRR2 | c.1290G>T (p.Thr430=) n.1121G>T c.1158G>T (p.Thr386=) c.993G>T (p.Thr331=) | dbSNP gnomAD v2 |
| 6 | g.89257778C= | CA1645371255 | GABRR2 | c.1290G= (p.Thr430=) n.1121G= c.1158G= (p.Thr386=) c.993G= (p.Thr331=) | |
| 6 | g.89257778C>G | CA451348431 | GABRR2 | c.1290G>C (p.Thr430=) n.1121G>C c.1158G>C (p.Thr386=) c.993G>C (p.Thr331=) | |
| 6 | g.89257778C>T | CA451348432 | GABRR2 | c.1290G>A (p.Thr430=) n.1121G>A c.1158G>A (p.Thr386=) c.993G>A (p.Thr331=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257779G>A | CA3920050 | GABRR2 | c.1289C>T (p.Thr430Met) n.1120C>T c.1157C>T (p.Thr386Met) c.992C>T (p.Thr331Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.89257779G>C | CA364954695 | GABRR2 | c.1289C>G (p.Thr430Arg) n.1120C>G c.1157C>G (p.Thr386Arg) c.992C>G (p.Thr331Arg) | dbSNP |
| 6 | g.89257779G= | CA1645371256 | GABRR2 | c.1289C= (p.Thr430=) n.1120C= c.1157C= (p.Thr386=) c.992C= (p.Thr331=) | |
| 6 | g.89257779G>T | CA364954696 | GABRR2 | c.1289C>A (p.Thr430Lys) n.1120C>A c.1157C>A (p.Thr386Lys) c.992C>A (p.Thr331Lys) |