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 |
|---|---|---|---|---|---|
| 5 | g.161294224G>A | CA362173232 | GABRB2 | c.1396C>T (p.Arg466Cys) c.*741C>T (n.*741C>T) c.1282C>T (p.Arg428Cys) c.1030C>T (p.Arg344Cys) c.532C>T (p.Arg178Cys) c.802C>T (p.Arg268Cys) c.1093C>T (p.Arg365Cys) c.646C>T (p.Arg216Cys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161294224G>C | CA362173233 | GABRB2 | c.1396C>G (p.Arg466Gly) c.*741C>G (n.*741C>G) c.1282C>G (p.Arg428Gly) c.1030C>G (p.Arg344Gly) c.532C>G (p.Arg178Gly) c.802C>G (p.Arg268Gly) c.1093C>G (p.Arg365Gly) c.646C>G (p.Arg216Gly) | |
| 5 | g.161294224G>T | CA362173234 | GABRB2 | c.1396C>A (p.Arg466Ser) c.*741C>A (n.*741C>A) c.1282C>A (p.Arg428Ser) c.1030C>A (p.Arg344Ser) c.532C>A (p.Arg178Ser) c.802C>A (p.Arg268Ser) c.1093C>A (p.Arg365Ser) c.646C>A (p.Arg216Ser) | |
| 5 | g.161294225A= | CA1595966746 | GABRB2 | c.1395T= (p.Ser465=) c.*740T= (n.*740T=) c.1281T= (p.Ser427=) c.1029T= (p.Ser343=) c.531T= (p.Ser177=) c.801T= (p.Ser267=) c.1092T= (p.Ser364=) c.645T= (p.Ser215=) | |
| 5 | g.161294225A>C | CA362173236 | GABRB2 | c.1395T>G (p.Ser465Arg) c.*740T>G (n.*740T>G) c.1281T>G (p.Ser427Arg) c.1029T>G (p.Ser343Arg) c.531T>G (p.Ser177Arg) c.801T>G (p.Ser267Arg) c.1092T>G (p.Ser364Arg) c.645T>G (p.Ser215Arg) | |
| 5 | g.161294225A>G | CA3543325 | GABRB2 | c.1395T>C (p.Ser465=) c.*740T>C (n.*740T>C) c.1281T>C (p.Ser427=) c.1029T>C (p.Ser343=) c.531T>C (p.Ser177=) c.801T>C (p.Ser267=) c.1092T>C (p.Ser364=) c.645T>C (p.Ser215=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161294225A>T | CA362173235 | GABRB2 | c.1395T>A (p.Ser465Arg) c.*740T>A (n.*740T>A) c.1281T>A (p.Ser427Arg) c.1029T>A (p.Ser343Arg) c.531T>A (p.Ser177Arg) c.801T>A (p.Ser267Arg) c.1092T>A (p.Ser364Arg) c.645T>A (p.Ser215Arg) | |
| 5 | g.161294226C>A | CA362173237 | GABRB2 | c.1394G>T (p.Ser465Ile) c.*739G>T (n.*739G>T) c.1280G>T (p.Ser427Ile) c.1028G>T (p.Ser343Ile) c.530G>T (p.Ser177Ile) c.800G>T (p.Ser267Ile) c.1091G>T (p.Ser364Ile) c.644G>T (p.Ser215Ile) | |
| 5 | g.161294226C>G | CA362173238 | GABRB2 | c.1394G>C (p.Ser465Thr) c.*739G>C (n.*739G>C) c.1280G>C (p.Ser427Thr) c.1028G>C (p.Ser343Thr) c.530G>C (p.Ser177Thr) c.800G>C (p.Ser267Thr) c.1091G>C (p.Ser364Thr) c.644G>C (p.Ser215Thr) | |
| 5 | g.161294226C>T | CA362173239 | GABRB2 | c.1394G>A (p.Ser465Asn) c.*739G>A (n.*739G>A) c.1280G>A (p.Ser427Asn) c.1028G>A (p.Ser343Asn) c.530G>A (p.Ser177Asn) c.800G>A (p.Ser267Asn) c.1091G>A (p.Ser364Asn) c.644G>A (p.Ser215Asn) | |
| 5 | g.161294227T>A | CA362173240 | GABRB2 | c.1393A>T (p.Ser465Cys) c.*738A>T (n.*738A>T) c.1279A>T (p.Ser427Cys) c.1027A>T (p.Ser343Cys) c.529A>T (p.Ser177Cys) c.799A>T (p.Ser267Cys) c.1090A>T (p.Ser364Cys) c.643A>T (p.Ser215Cys) | |
| 5 | g.161294227T>C | CA362173241 | GABRB2 | c.1393A>G (p.Ser465Gly) c.*738A>G (n.*738A>G) c.1279A>G (p.Ser427Gly) c.1027A>G (p.Ser343Gly) c.529A>G (p.Ser177Gly) c.799A>G (p.Ser267Gly) c.1090A>G (p.Ser364Gly) c.643A>G (p.Ser215Gly) | |
| 5 | g.161294227T>G | CA362173242 | GABRB2 | c.1393A>C (p.Ser465Arg) c.*738A>C (n.*738A>C) c.1279A>C (p.Ser427Arg) c.1027A>C (p.Ser343Arg) c.529A>C (p.Ser177Arg) c.799A>C (p.Ser267Arg) c.1090A>C (p.Ser364Arg) c.643A>C (p.Ser215Arg) | |
| 5 | g.161294228T>A | CA362173243 | GABRB2 | c.1392A>T (p.Lys464Asn) c.*737A>T (n.*737A>T) c.1278A>T (p.Lys426Asn) c.1026A>T (p.Lys342Asn) c.528A>T (p.Lys176Asn) c.798A>T (p.Lys266Asn) c.1089A>T (p.Lys363Asn) c.642A>T (p.Lys214Asn) | dbSNP |
| 5 | g.161294228T>C | CA447604693 | GABRB2 | c.1392A>G (p.Lys464=) c.*737A>G (n.*737A>G) c.1278A>G (p.Lys426=) c.1026A>G (p.Lys342=) c.528A>G (p.Lys176=) c.798A>G (p.Lys266=) c.1089A>G (p.Lys363=) c.642A>G (p.Lys214=) | |
| 5 | g.161294228T>G | CA362173244 | GABRB2 | c.1392A>C (p.Lys464Asn) c.*737A>C (n.*737A>C) c.1278A>C (p.Lys426Asn) c.1026A>C (p.Lys342Asn) c.528A>C (p.Lys176Asn) c.798A>C (p.Lys266Asn) c.1089A>C (p.Lys363Asn) c.642A>C (p.Lys214Asn) | |
| 5 | g.161294228T= | CA1595966749 | GABRB2 | c.1392A= (p.Lys464=) c.*737A= (n.*737A=) c.1278A= (p.Lys426=) c.1026A= (p.Lys342=) c.528A= (p.Lys176=) c.798A= (p.Lys266=) c.1089A= (p.Lys363=) c.642A= (p.Lys214=) | |
| 5 | g.161294229T>A | CA362173245 | GABRB2 | c.1391A>T (p.Lys464Ile) c.*736A>T (n.*736A>T) c.1277A>T (p.Lys426Ile) c.1025A>T (p.Lys342Ile) c.527A>T (p.Lys176Ile) c.797A>T (p.Lys266Ile) c.1088A>T (p.Lys363Ile) c.641A>T (p.Lys214Ile) | |
| 5 | g.161294229T>C | CA362173246 | GABRB2 | c.1391A>G (p.Lys464Arg) c.*736A>G (n.*736A>G) c.1277A>G (p.Lys426Arg) c.1025A>G (p.Lys342Arg) c.527A>G (p.Lys176Arg) c.797A>G (p.Lys266Arg) c.1088A>G (p.Lys363Arg) c.641A>G (p.Lys214Arg) | |
| 5 | g.161294229T>G | CA362173247 | GABRB2 | c.1391A>C (p.Lys464Thr) c.*736A>C (n.*736A>C) c.1277A>C (p.Lys426Thr) c.1025A>C (p.Lys342Thr) c.527A>C (p.Lys176Thr) c.797A>C (p.Lys266Thr) c.1088A>C (p.Lys363Thr) c.641A>C (p.Lys214Thr) | |
| 5 | g.161294230T>A | CA362173248 | GABRB2 | c.1390A>T (p.Lys464Ter) c.*735A>T (n.*735A>T) c.1276A>T (p.Lys426Ter) c.1024A>T (p.Lys342Ter) c.526A>T (p.Lys176Ter) c.796A>T (p.Lys266Ter) c.1087A>T (p.Lys363Ter) c.640A>T (p.Lys214Ter) | |
| 5 | g.161294230T>C | CA362173249 | GABRB2 | c.1390A>G (p.Lys464Glu) c.*735A>G (n.*735A>G) c.1276A>G (p.Lys426Glu) c.1024A>G (p.Lys342Glu) c.526A>G (p.Lys176Glu) c.796A>G (p.Lys266Glu) c.1087A>G (p.Lys363Glu) c.640A>G (p.Lys214Glu) | |
| 5 | g.161294230T>G | CA362173250 | GABRB2 | c.1390A>C (p.Lys464Gln) c.*735A>C (n.*735A>C) c.1276A>C (p.Lys426Gln) c.1024A>C (p.Lys342Gln) c.526A>C (p.Lys176Gln) c.796A>C (p.Lys266Gln) c.1087A>C (p.Lys363Gln) c.640A>C (p.Lys214Gln) | |
| 5 | g.161294231C>A | CA362173251 | GABRB2 | c.1389G>T (p.Lys463Asn) c.*734G>T (n.*734G>T) c.1275G>T (p.Lys425Asn) c.1023G>T (p.Lys341Asn) c.525G>T (p.Lys175Asn) c.795G>T (p.Lys265Asn) c.1086G>T (p.Lys362Asn) c.639G>T (p.Lys213Asn) | |
| 5 | g.161294231C>G | CA362173252 | GABRB2 | c.1389G>C (p.Lys463Asn) c.*734G>C (n.*734G>C) c.1275G>C (p.Lys425Asn) c.1023G>C (p.Lys341Asn) c.525G>C (p.Lys175Asn) c.795G>C (p.Lys265Asn) c.1086G>C (p.Lys362Asn) c.639G>C (p.Lys213Asn) | gnomAD v4 |
| 5 | g.161294231C>T | CA447604694 | GABRB2 | c.1389G>A (p.Lys463=) c.*734G>A (n.*734G>A) c.1275G>A (p.Lys425=) c.1023G>A (p.Lys341=) c.525G>A (p.Lys175=) c.795G>A (p.Lys265=) c.1086G>A (p.Lys362=) c.639G>A (p.Lys213=) | COSMIC COSMIC |
| 5 | g.161294232T>A | CA362173253 | GABRB2 | c.1388A>T (p.Lys463Met) c.*733A>T (n.*733A>T) c.1274A>T (p.Lys425Met) c.1022A>T (p.Lys341Met) c.524A>T (p.Lys175Met) c.794A>T (p.Lys265Met) c.1085A>T (p.Lys362Met) c.638A>T (p.Lys213Met) | dbSNP |
| 5 | g.161294232T>C | CA362173254 | GABRB2 | c.1388A>G (p.Lys463Arg) c.*733A>G (n.*733A>G) c.1274A>G (p.Lys425Arg) c.1022A>G (p.Lys341Arg) c.524A>G (p.Lys175Arg) c.794A>G (p.Lys265Arg) c.1085A>G (p.Lys362Arg) c.638A>G (p.Lys213Arg) | |
| 5 | g.161294232T>G | CA362173255 | GABRB2 | c.1388A>C (p.Lys463Thr) c.*733A>C (n.*733A>C) c.1274A>C (p.Lys425Thr) c.1022A>C (p.Lys341Thr) c.524A>C (p.Lys175Thr) c.794A>C (p.Lys265Thr) c.1085A>C (p.Lys362Thr) c.638A>C (p.Lys213Thr) | COSMIC COSMIC |
| 5 | g.161294233T>A | CA362173256 | GABRB2 | c.1387A>T (p.Lys463Ter) c.*732A>T (n.*732A>T) c.1273A>T (p.Lys425Ter) c.1021A>T (p.Lys341Ter) c.523A>T (p.Lys175Ter) c.793A>T (p.Lys265Ter) c.1084A>T (p.Lys362Ter) c.637A>T (p.Lys213Ter) | |
| 5 | g.161294233T>C | CA362173257 | GABRB2 | c.1387A>G (p.Lys463Glu) c.*732A>G (n.*732A>G) c.1273A>G (p.Lys425Glu) c.1021A>G (p.Lys341Glu) c.523A>G (p.Lys175Glu) c.793A>G (p.Lys265Glu) c.1084A>G (p.Lys362Glu) c.637A>G (p.Lys213Glu) | |
| 5 | g.161294233T>G | CA362173258 | GABRB2 | c.1387A>C (p.Lys463Gln) c.*732A>C (n.*732A>C) c.1273A>C (p.Lys425Gln) c.1021A>C (p.Lys341Gln) c.523A>C (p.Lys175Gln) c.793A>C (p.Lys265Gln) c.1084A>C (p.Lys362Gln) c.637A>C (p.Lys213Gln) | gnomAD v4 |
| 5 | g.161294234T>A | CA362173259 | GABRB2 | c.1386A>T (p.Gln462His) c.*731A>T (n.*731A>T) c.1272A>T (p.Gln424His) c.1020A>T (p.Gln340His) c.522A>T (p.Gln174His) c.792A>T (p.Gln264His) c.1083A>T (p.Gln361His) c.636A>T (p.Gln212His) | ClinVar dbSNP |
| 5 | g.161294234T>C | CA447604695 | GABRB2 | c.1386A>G (p.Gln462=) c.*731A>G (n.*731A>G) c.1272A>G (p.Gln424=) c.1020A>G (p.Gln340=) c.522A>G (p.Gln174=) c.792A>G (p.Gln264=) c.1083A>G (p.Gln361=) c.636A>G (p.Gln212=) | gnomAD v4 |
| 5 | g.161294234T>G | CA362173260 | GABRB2 | c.1386A>C (p.Gln462His) c.*731A>C (n.*731A>C) c.1272A>C (p.Gln424His) c.1020A>C (p.Gln340His) c.522A>C (p.Gln174His) c.792A>C (p.Gln264His) c.1083A>C (p.Gln361His) c.636A>C (p.Gln212His) | |
| 5 | g.161294235T>A | CA362173261 | GABRB2 | c.1385A>T (p.Gln462Leu) c.*730A>T (n.*730A>T) c.1271A>T (p.Gln424Leu) c.1019A>T (p.Gln340Leu) c.521A>T (p.Gln174Leu) c.791A>T (p.Gln264Leu) c.1082A>T (p.Gln361Leu) c.635A>T (p.Gln212Leu) | |
| 5 | g.161294235T>C | CA362173262 | GABRB2 | c.1385A>G (p.Gln462Arg) c.*730A>G (n.*730A>G) c.1271A>G (p.Gln424Arg) c.1019A>G (p.Gln340Arg) c.521A>G (p.Gln174Arg) c.791A>G (p.Gln264Arg) c.1082A>G (p.Gln361Arg) c.635A>G (p.Gln212Arg) | |
| 5 | g.161294235T>G | CA3543326 | GABRB2 | c.1385A>C (p.Gln462Pro) c.*730A>C (n.*730A>C) c.1271A>C (p.Gln424Pro) c.1019A>C (p.Gln340Pro) c.521A>C (p.Gln174Pro) c.791A>C (p.Gln264Pro) c.1082A>C (p.Gln361Pro) c.635A>C (p.Gln212Pro) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.161294235T= | CA1595966752 | GABRB2 | c.1385A= (p.Gln462=) c.*730A= (n.*730A=) c.1271A= (p.Gln424=) c.1019A= (p.Gln340=) c.521A= (p.Gln174=) c.791A= (p.Gln264=) c.1082A= (p.Gln361=) c.635A= (p.Gln212=) | |
| 5 | g.161294236G>A | CA362173265 | GABRB2 | c.1384C>T (p.Gln462Ter) c.*729C>T (n.*729C>T) c.1270C>T (p.Gln424Ter) c.1018C>T (p.Gln340Ter) c.520C>T (p.Gln174Ter) c.790C>T (p.Gln264Ter) c.1081C>T (p.Gln361Ter) c.634C>T (p.Gln212Ter) | |
| 5 | g.161294236G>C | CA362173264 | GABRB2 | c.1384C>G (p.Gln462Glu) c.*729C>G (n.*729C>G) c.1270C>G (p.Gln424Glu) c.1018C>G (p.Gln340Glu) c.520C>G (p.Gln174Glu) c.790C>G (p.Gln264Glu) c.1081C>G (p.Gln361Glu) c.634C>G (p.Gln212Glu) | |
| 5 | g.161294236G>T | CA362173263 | GABRB2 | c.1384C>A (p.Gln462Lys) c.*729C>A (n.*729C>A) c.1270C>A (p.Gln424Lys) c.1018C>A (p.Gln340Lys) c.520C>A (p.Gln174Lys) c.790C>A (p.Gln264Lys) c.1081C>A (p.Gln361Lys) c.634C>A (p.Gln212Lys) | |
| 5 | g.161294237C>A | CA447604696 | GABRB2 | c.1383G>T (p.Ala461=) c.*728G>T (n.*728G>T) c.1269G>T (p.Ala423=) c.1017G>T (p.Ala339=) c.519G>T (p.Ala173=) c.789G>T (p.Ala263=) c.1080G>T (p.Ala360=) c.633G>T (p.Ala211=) | |
| 5 | g.161294237C= | CA1595966759 | GABRB2 | c.1383G= (p.Ala461=) c.*728G= (n.*728G=) c.1269G= (p.Ala423=) c.1017G= (p.Ala339=) c.519G= (p.Ala173=) c.789G= (p.Ala263=) c.1080G= (p.Ala360=) c.633G= (p.Ala211=) | |
| 5 | g.161294237C>G | CA447604697 | GABRB2 | c.1383G>C (p.Ala461=) c.*728G>C (n.*728G>C) c.1269G>C (p.Ala423=) c.1017G>C (p.Ala339=) c.519G>C (p.Ala173=) c.789G>C (p.Ala263=) c.1080G>C (p.Ala360=) c.633G>C (p.Ala211=) | |
| 5 | g.161294237C>T | CA3543327 | GABRB2 | c.1383G>A (p.Ala461=) c.*728G>A (n.*728G>A) c.1269G>A (p.Ala423=) c.1017G>A (p.Ala339=) c.519G>A (p.Ala173=) c.789G>A (p.Ala263=) c.1080G>A (p.Ala360=) c.633G>A (p.Ala211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161294238G>A | CA131016123 | GABRB2 | c.1382C>T (p.Ala461Val) c.*727C>T (n.*727C>T) c.1268C>T (p.Ala423Val) c.1016C>T (p.Ala339Val) c.518C>T (p.Ala173Val) c.788C>T (p.Ala263Val) c.1079C>T (p.Ala360Val) c.632C>T (p.Ala211Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161294238G>C | CA362173266 | GABRB2 | c.1382C>G (p.Ala461Gly) c.*727C>G (n.*727C>G) c.1268C>G (p.Ala423Gly) c.1016C>G (p.Ala339Gly) c.518C>G (p.Ala173Gly) c.788C>G (p.Ala263Gly) c.1079C>G (p.Ala360Gly) c.632C>G (p.Ala211Gly) | |
| 5 | g.161294238G= | CA1595966765 | GABRB2 | c.1382C= (p.Ala461=) c.*727C= (n.*727C=) c.1268C= (p.Ala423=) c.1016C= (p.Ala339=) c.518C= (p.Ala173=) c.788C= (p.Ala263=) c.1079C= (p.Ala360=) c.632C= (p.Ala211=) | |
| 5 | g.161294238G>T | CA362173267 | GABRB2 | c.1382C>A (p.Ala461Glu) c.*727C>A (n.*727C>A) c.1268C>A (p.Ala423Glu) c.1016C>A (p.Ala339Glu) c.518C>A (p.Ala173Glu) c.788C>A (p.Ala263Glu) c.1079C>A (p.Ala360Glu) c.632C>A (p.Ala211Glu) | |
| 5 | g.161294239C>A | CA362173268 | GABRB2 | c.1381G>T (p.Ala461Ser) c.*726G>T (n.*726G>T) c.1267G>T (p.Ala423Ser) c.1015G>T (p.Ala339Ser) c.517G>T (p.Ala173Ser) c.787G>T (p.Ala263Ser) c.1078G>T (p.Ala360Ser) c.631G>T (p.Ala211Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161294239C= | CA1595966771 | GABRB2 | c.1381G= (p.Ala461=) c.*726G= (n.*726G=) c.1267G= (p.Ala423=) c.1015G= (p.Ala339=) c.517G= (p.Ala173=) c.787G= (p.Ala263=) c.1078G= (p.Ala360=) c.631G= (p.Ala211=) | |
| 5 | g.161294239C>G | CA362173269 | GABRB2 | c.1381G>C (p.Ala461Pro) c.*726G>C (n.*726G>C) c.1267G>C (p.Ala423Pro) c.1015G>C (p.Ala339Pro) c.517G>C (p.Ala173Pro) c.787G>C (p.Ala263Pro) c.1078G>C (p.Ala360Pro) c.631G>C (p.Ala211Pro) | |
| 5 | g.161294239C>T | CA362173270 | GABRB2 | c.1381G>A (p.Ala461Thr) c.*726G>A (n.*726G>A) c.1267G>A (p.Ala423Thr) c.1015G>A (p.Ala339Thr) c.517G>A (p.Ala173Thr) c.787G>A (p.Ala263Thr) c.1078G>A (p.Ala360Thr) c.631G>A (p.Ala211Thr) | |
| 5 | g.161294240C>A | CA447604698 | GABRB2 | c.1380G>T (p.Val460=) c.*725G>T (n.*725G>T) c.1266G>T (p.Val422=) c.1014G>T (p.Val338=) c.516G>T (p.Val172=) c.786G>T (p.Val262=) c.1077G>T (p.Val359=) c.630G>T (p.Val210=) | |
| 5 | g.161294240C= | CA1595966776 | GABRB2 | c.1380G= (p.Val460=) c.*725G= (n.*725G=) c.1266G= (p.Val422=) c.1014G= (p.Val338=) c.516G= (p.Val172=) c.786G= (p.Val262=) c.1077G= (p.Val359=) c.630G= (p.Val210=) | |
| 5 | g.161294240C>G | CA447604700 | GABRB2 | c.1380G>C (p.Val460=) c.*725G>C (n.*725G>C) c.1266G>C (p.Val422=) c.1014G>C (p.Val338=) c.516G>C (p.Val172=) c.786G>C (p.Val262=) c.1077G>C (p.Val359=) c.630G>C (p.Val210=) | |
| 5 | g.161294240C>T | CA447604699 | GABRB2 | c.1380G>A (p.Val460=) c.*725G>A (n.*725G>A) c.1266G>A (p.Val422=) c.1014G>A (p.Val338=) c.516G>A (p.Val172=) c.786G>A (p.Val262=) c.1077G>A (p.Val359=) c.630G>A (p.Val210=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161294241A= | CA1595966782 | GABRB2 | c.1379T= (p.Val460=) c.*724T= (n.*724T=) c.1265T= (p.Val422=) c.1013T= (p.Val338=) c.515T= (p.Val172=) c.785T= (p.Val262=) c.1076T= (p.Val359=) c.629T= (p.Val210=) | |
| 5 | g.161294241A>C | CA362173271 | GABRB2 | c.1379T>G (p.Val460Gly) c.*724T>G (n.*724T>G) c.1265T>G (p.Val422Gly) c.1013T>G (p.Val338Gly) c.515T>G (p.Val172Gly) c.785T>G (p.Val262Gly) c.1076T>G (p.Val359Gly) c.629T>G (p.Val210Gly) | |
| 5 | g.161294241A>G | CA362173272 | GABRB2 | c.1379T>C (p.Val460Ala) c.*724T>C (n.*724T>C) c.1265T>C (p.Val422Ala) c.1013T>C (p.Val338Ala) c.515T>C (p.Val172Ala) c.785T>C (p.Val262Ala) c.1076T>C (p.Val359Ala) c.629T>C (p.Val210Ala) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161294241A>T | CA362173273 | GABRB2 | c.1379T>A (p.Val460Glu) c.*724T>A (n.*724T>A) c.1265T>A (p.Val422Glu) c.1013T>A (p.Val338Glu) c.515T>A (p.Val172Glu) c.785T>A (p.Val262Glu) c.1076T>A (p.Val359Glu) c.629T>A (p.Val210Glu) | |
| 5 | g.161294242C>A | CA362173274 | GABRB2 | c.1378G>T (p.Val460Leu) c.*723G>T (n.*723G>T) c.1264G>T (p.Val422Leu) c.1012G>T (p.Val338Leu) c.514G>T (p.Val172Leu) c.784G>T (p.Val262Leu) c.1075G>T (p.Val359Leu) c.628G>T (p.Val210Leu) | |
| 5 | g.161294242C= | CA1595966788 | GABRB2 | c.1378G= (p.Val460=) c.*723G= (n.*723G=) c.1264G= (p.Val422=) c.1012G= (p.Val338=) c.514G= (p.Val172=) c.784G= (p.Val262=) c.1075G= (p.Val359=) c.628G= (p.Val210=) | |
| 5 | g.161294242C>G | CA362173275 | GABRB2 | c.1378G>C (p.Val460Leu) c.*723G>C (n.*723G>C) c.1264G>C (p.Val422Leu) c.1012G>C (p.Val338Leu) c.514G>C (p.Val172Leu) c.784G>C (p.Val262Leu) c.1075G>C (p.Val359Leu) c.628G>C (p.Val210Leu) | |
| 5 | g.161294242C>T | CA131016124 | GABRB2 | c.1378G>A (p.Val460Met) c.*723G>A (n.*723G>A) c.1264G>A (p.Val422Met) c.1012G>A (p.Val338Met) c.514G>A (p.Val172Met) c.784G>A (p.Val262Met) c.1075G>A (p.Val359Met) c.628G>A (p.Val210Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161294243A= | CA1595966793 | GABRB2 | c.1377T= (p.His459=) c.*722T= (n.*722T=) c.1263T= (p.His421=) c.1011T= (p.His337=) c.513T= (p.His171=) c.783T= (p.His261=) c.1074T= (p.His358=) c.627T= (p.His209=) | |
| 5 | g.161294243A>C | CA362173276 | GABRB2 | c.1377T>G (p.His459Gln) c.*722T>G (n.*722T>G) c.1263T>G (p.His421Gln) c.1011T>G (p.His337Gln) c.513T>G (p.His171Gln) c.783T>G (p.His261Gln) c.1074T>G (p.His358Gln) c.627T>G (p.His209Gln) | |
| 5 | g.161294243A>G | CA3543328 | GABRB2 | c.1377T>C (p.His459=) c.*722T>C (n.*722T>C) c.1263T>C (p.His421=) c.1011T>C (p.His337=) c.513T>C (p.His171=) c.783T>C (p.His261=) c.1074T>C (p.His358=) c.627T>C (p.His209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161294243A>T | CA362173277 | GABRB2 | c.1377T>A (p.His459Gln) c.*722T>A (n.*722T>A) c.1263T>A (p.His421Gln) c.1011T>A (p.His337Gln) c.513T>A (p.His171Gln) c.783T>A (p.His261Gln) c.1074T>A (p.His358Gln) c.627T>A (p.His209Gln) | |
| 5 | g.161294244T>A | CA362173279 | GABRB2 | c.1376A>T (p.His459Leu) c.*721A>T (n.*721A>T) c.1262A>T (p.His421Leu) c.1010A>T (p.His337Leu) c.512A>T (p.His171Leu) c.782A>T (p.His261Leu) c.1073A>T (p.His358Leu) c.626A>T (p.His209Leu) | |
| 5 | g.161294244T>C | CA3543329 | GABRB2 | c.1376A>G (p.His459Arg) c.*721A>G (n.*721A>G) c.1262A>G (p.His421Arg) c.1010A>G (p.His337Arg) c.512A>G (p.His171Arg) c.782A>G (p.His261Arg) c.1073A>G (p.His358Arg) c.626A>G (p.His209Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161294244T>G | CA362173278 | GABRB2 | c.1376A>C (p.His459Pro) c.*721A>C (n.*721A>C) c.1262A>C (p.His421Pro) c.1010A>C (p.His337Pro) c.512A>C (p.His171Pro) c.782A>C (p.His261Pro) c.1073A>C (p.His358Pro) c.626A>C (p.His209Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161294244T= | CA1595966802 | GABRB2 | c.1376A= (p.His459=) c.*721A= (n.*721A=) c.1262A= (p.His421=) c.1010A= (p.His337=) c.512A= (p.His171=) c.782A= (p.His261=) c.1073A= (p.His358=) c.626A= (p.His209=) | |
| 5 | g.161294245G>A | CA362173280 | GABRB2 | c.1375C>T (p.His459Tyr) c.*720C>T (n.*720C>T) c.1261C>T (p.His421Tyr) c.1009C>T (p.His337Tyr) c.511C>T (p.His171Tyr) c.781C>T (p.His261Tyr) c.1072C>T (p.His358Tyr) c.625C>T (p.His209Tyr) | |
| 5 | g.161294245G>C | CA362173281 | GABRB2 | c.1375C>G (p.His459Asp) c.*720C>G (n.*720C>G) c.1261C>G (p.His421Asp) c.1009C>G (p.His337Asp) c.511C>G (p.His171Asp) c.781C>G (p.His261Asp) c.1072C>G (p.His358Asp) c.625C>G (p.His209Asp) | |
| 5 | g.161294245G>T | CA362173282 | GABRB2 | c.1375C>A (p.His459Asn) c.*720C>A (n.*720C>A) c.1261C>A (p.His421Asn) c.1009C>A (p.His337Asn) c.511C>A (p.His171Asn) c.781C>A (p.His261Asn) c.1072C>A (p.His358Asn) c.625C>A (p.His209Asn) | |
| 5 | g.161294246T>A | CA447604701 | GABRB2 | c.1374A>T (p.Arg458=) c.*719A>T (n.*719A>T) c.1260A>T (p.Arg420=) c.1008A>T (p.Arg336=) c.510A>T (p.Arg170=) c.780A>T (p.Arg260=) c.1071A>T (p.Arg357=) c.624A>T (p.Arg208=) | |
| 5 | g.161294246T>C | CA3543330 | GABRB2 | c.1374A>G (p.Arg458=) c.*719A>G (n.*719A>G) c.1260A>G (p.Arg420=) c.1008A>G (p.Arg336=) c.510A>G (p.Arg170=) c.780A>G (p.Arg260=) c.1071A>G (p.Arg357=) c.624A>G (p.Arg208=) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.161294246T>G | CA447604702 | GABRB2 | c.1374A>C (p.Arg458=) c.*719A>C (n.*719A>C) c.1260A>C (p.Arg420=) c.1008A>C (p.Arg336=) c.510A>C (p.Arg170=) c.780A>C (p.Arg260=) c.1071A>C (p.Arg357=) c.624A>C (p.Arg208=) | |
| 5 | g.161294246T= | CA1595966805 | GABRB2 | c.1374A= (p.Arg458=) c.*719A= (n.*719A=) c.1260A= (p.Arg420=) c.1008A= (p.Arg336=) c.510A= (p.Arg170=) c.780A= (p.Arg260=) c.1071A= (p.Arg357=) c.624A= (p.Arg208=) | |
| 5 | g.161294247C>A | CA131016125 | GABRB2 | c.1373G>T (p.Arg458Leu) c.*718G>T (n.*718G>T) c.1259G>T (p.Arg420Leu) c.1007G>T (p.Arg336Leu) c.509G>T (p.Arg170Leu) c.779G>T (p.Arg260Leu) c.1070G>T (p.Arg357Leu) c.623G>T (p.Arg208Leu) | dbSNP |
| 5 | g.161294247C= | CA1595966812 | GABRB2 | c.1373G= (p.Arg458=) c.*718G= (n.*718G=) c.1259G= (p.Arg420=) c.1007G= (p.Arg336=) c.509G= (p.Arg170=) c.779G= (p.Arg260=) c.1070G= (p.Arg357=) c.623G= (p.Arg208=) | |
| 5 | g.161294247C>G | CA362173283 | GABRB2 | c.1373G>C (p.Arg458Pro) c.*718G>C (n.*718G>C) c.1259G>C (p.Arg420Pro) c.1007G>C (p.Arg336Pro) c.509G>C (p.Arg170Pro) c.779G>C (p.Arg260Pro) c.1070G>C (p.Arg357Pro) c.623G>C (p.Arg208Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161294247C>T | CA3543331 | GABRB2 | c.1373G>A (p.Arg458Gln) c.*718G>A (n.*718G>A) c.1259G>A (p.Arg420Gln) c.1007G>A (p.Arg336Gln) c.509G>A (p.Arg170Gln) c.779G>A (p.Arg260Gln) c.1070G>A (p.Arg357Gln) c.623G>A (p.Arg208Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161294248G>A | CA362173284 | GABRB2 | c.1372C>T (p.Arg458Ter) c.*717C>T (n.*717C>T) c.1258C>T (p.Arg420Ter) c.1006C>T (p.Arg336Ter) c.508C>T (p.Arg170Ter) c.778C>T (p.Arg260Ter) c.1069C>T (p.Arg357Ter) c.622C>T (p.Arg208Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.161294248G>C | CA362173285 | GABRB2 | c.1372C>G (p.Arg458Gly) c.*717C>G (n.*717C>G) c.1258C>G (p.Arg420Gly) c.1006C>G (p.Arg336Gly) c.508C>G (p.Arg170Gly) c.778C>G (p.Arg260Gly) c.1069C>G (p.Arg357Gly) c.622C>G (p.Arg208Gly) | |
| 5 | g.161294248G= | CA1595966818 | GABRB2 | c.1372C= (p.Arg458=) c.*717C= (n.*717C=) c.1258C= (p.Arg420=) c.1006C= (p.Arg336=) c.508C= (p.Arg170=) c.778C= (p.Arg260=) c.1069C= (p.Arg357=) c.622C= (p.Arg208=) | |
| 5 | g.161294248G>T | CA447604703 | GABRB2 | c.1372C>A (p.Arg458=) c.*717C>A (n.*717C>A) c.1258C>A (p.Arg420=) c.1006C>A (p.Arg336=) c.508C>A (p.Arg170=) c.778C>A (p.Arg260=) c.1069C>A (p.Arg357=) c.622C>A (p.Arg208=) | |
| 5 | g.161294249T>A | CA362173286 | GABRB2 | c.1371A>T (p.Glu457Asp) c.*716A>T (n.*716A>T) c.1257A>T (p.Glu419Asp) c.1005A>T (p.Glu335Asp) c.507A>T (p.Glu169Asp) c.777A>T (p.Glu259Asp) c.1068A>T (p.Glu356Asp) c.621A>T (p.Glu207Asp) | |
| 5 | g.161294249T>C | CA447604704 | GABRB2 | c.1371A>G (p.Glu457=) c.*716A>G (n.*716A>G) c.1257A>G (p.Glu419=) c.1005A>G (p.Glu335=) c.507A>G (p.Glu169=) c.777A>G (p.Glu259=) c.1068A>G (p.Glu356=) c.621A>G (p.Glu207=) | |
| 5 | g.161294249T>G | CA362173287 | GABRB2 | c.1371A>C (p.Glu457Asp) c.*716A>C (n.*716A>C) c.1257A>C (p.Glu419Asp) c.1005A>C (p.Glu335Asp) c.507A>C (p.Glu169Asp) c.777A>C (p.Glu259Asp) c.1068A>C (p.Glu356Asp) c.621A>C (p.Glu207Asp) | |
| 5 | g.161294250T>A | CA362173288 | GABRB2 | c.1370A>T (p.Glu457Val) c.*715A>T (n.*715A>T) c.1256A>T (p.Glu419Val) c.1004A>T (p.Glu335Val) c.506A>T (p.Glu169Val) c.776A>T (p.Glu259Val) c.1067A>T (p.Glu356Val) c.620A>T (p.Glu207Val) | |
| 5 | g.161294250T>C | CA362173289 | GABRB2 | c.1370A>G (p.Glu457Gly) c.*715A>G (n.*715A>G) c.1256A>G (p.Glu419Gly) c.1004A>G (p.Glu335Gly) c.506A>G (p.Glu169Gly) c.776A>G (p.Glu259Gly) c.1067A>G (p.Glu356Gly) c.620A>G (p.Glu207Gly) | gnomAD v4 |
| 5 | g.161294250T>G | CA362173290 | GABRB2 | c.1370A>C (p.Glu457Ala) c.*715A>C (n.*715A>C) c.1256A>C (p.Glu419Ala) c.1004A>C (p.Glu335Ala) c.506A>C (p.Glu169Ala) c.776A>C (p.Glu259Ala) c.1067A>C (p.Glu356Ala) c.620A>C (p.Glu207Ala) | |
| 5 | g.161294251C>A | CA362173292 | GABRB2 | c.1369G>T (p.Glu457Ter) c.*714G>T (n.*714G>T) c.1255G>T (p.Glu419Ter) c.1003G>T (p.Glu335Ter) c.505G>T (p.Glu169Ter) c.775G>T (p.Glu259Ter) c.1066G>T (p.Glu356Ter) c.619G>T (p.Glu207Ter) | |
| 5 | g.161294251C>G | CA362173293 | GABRB2 | c.1369G>C (p.Glu457Gln) c.*714G>C (n.*714G>C) c.1255G>C (p.Glu419Gln) c.1003G>C (p.Glu335Gln) c.505G>C (p.Glu169Gln) c.775G>C (p.Glu259Gln) c.1066G>C (p.Glu356Gln) c.619G>C (p.Glu207Gln) | dbSNP |
| 5 | g.161294251C>T | CA362173291 | GABRB2 | c.1369G>A (p.Glu457Lys) c.*714G>A (n.*714G>A) c.1255G>A (p.Glu419Lys) c.1003G>A (p.Glu335Lys) c.505G>A (p.Glu169Lys) c.775G>A (p.Glu259Lys) c.1066G>A (p.Glu356Lys) c.619G>A (p.Glu207Lys) | gnomAD v4 |
| 5 | g.161294252C>A | CA447604706 | GABRB2 | c.1368G>T (p.Leu456=) c.*713G>T (n.*713G>T) c.1254G>T (p.Leu418=) c.1002G>T (p.Leu334=) c.504G>T (p.Leu168=) c.774G>T (p.Leu258=) c.1065G>T (p.Leu355=) c.618G>T (p.Leu206=) | |
| 5 | g.161294252C= | CA1595966823 | GABRB2 | c.1368G= (p.Leu456=) c.*713G= (n.*713G=) c.1254G= (p.Leu418=) c.1002G= (p.Leu334=) c.504G= (p.Leu168=) c.774G= (p.Leu258=) c.1065G= (p.Leu355=) c.618G= (p.Leu206=) | |
| 5 | g.161294252C>G | CA447604707 | GABRB2 | c.1368G>C (p.Leu456=) c.*713G>C (n.*713G>C) c.1254G>C (p.Leu418=) c.1002G>C (p.Leu334=) c.504G>C (p.Leu168=) c.774G>C (p.Leu258=) c.1065G>C (p.Leu355=) c.618G>C (p.Leu206=) | |
| 5 | g.161294252C>T | CA3543332 | GABRB2 | c.1368G>A (p.Leu456=) c.*713G>A (n.*713G>A) c.1254G>A (p.Leu418=) c.1002G>A (p.Leu334=) c.504G>A (p.Leu168=) c.774G>A (p.Leu258=) c.1065G>A (p.Leu355=) c.618G>A (p.Leu206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161294253A>C | CA362173294 | GABRB2 | c.1367T>G (p.Leu456Arg) c.*712T>G (n.*712T>G) c.1253T>G (p.Leu418Arg) c.1001T>G (p.Leu334Arg) c.503T>G (p.Leu168Arg) c.773T>G (p.Leu258Arg) c.1064T>G (p.Leu355Arg) c.617T>G (p.Leu206Arg) | |
| 5 | g.161294253A>G | CA362173295 | GABRB2 | c.1367T>C (p.Leu456Pro) c.*712T>C (n.*712T>C) c.1253T>C (p.Leu418Pro) c.1001T>C (p.Leu334Pro) c.503T>C (p.Leu168Pro) c.773T>C (p.Leu258Pro) c.1064T>C (p.Leu355Pro) c.617T>C (p.Leu206Pro) | |
| 5 | g.161294253A>T | CA362173296 | GABRB2 | c.1367T>A (p.Leu456Gln) c.*712T>A (n.*712T>A) c.1253T>A (p.Leu418Gln) c.1001T>A (p.Leu334Gln) c.503T>A (p.Leu168Gln) c.773T>A (p.Leu258Gln) c.1064T>A (p.Leu355Gln) c.617T>A (p.Leu206Gln) | |
| 5 | g.161294254G>A | CA447604708 | GABRB2 | c.1366C>T (p.Leu456=) c.*711C>T (n.*711C>T) c.1252C>T (p.Leu418=) c.1000C>T (p.Leu334=) c.502C>T (p.Leu168=) c.772C>T (p.Leu258=) c.1063C>T (p.Leu355=) c.616C>T (p.Leu206=) | |
| 5 | g.161294254G>C | CA362173297 | GABRB2 | c.1366C>G (p.Leu456Val) c.*711C>G (n.*711C>G) c.1252C>G (p.Leu418Val) c.1000C>G (p.Leu334Val) c.502C>G (p.Leu168Val) c.772C>G (p.Leu258Val) c.1063C>G (p.Leu355Val) c.616C>G (p.Leu206Val) | |
| 5 | g.161294254G>T | CA362173298 | GABRB2 | c.1366C>A (p.Leu456Met) c.*711C>A (n.*711C>A) c.1252C>A (p.Leu418Met) c.1000C>A (p.Leu334Met) c.502C>A (p.Leu168Met) c.772C>A (p.Leu258Met) c.1063C>A (p.Leu355Met) c.616C>A (p.Leu206Met) | |
| 5 | g.161294255A>C | CA447604711 | GABRB2 | c.1365T>G (p.Ala455=) c.*710T>G (n.*710T>G) c.1251T>G (p.Ala417=) c.999T>G (p.Ala333=) c.501T>G (p.Ala167=) c.771T>G (p.Ala257=) c.1062T>G (p.Ala354=) c.615T>G (p.Ala205=) | |
| 5 | g.161294255A>G | CA447604709 | GABRB2 | c.1365T>C (p.Ala455=) c.*710T>C (n.*710T>C) c.1251T>C (p.Ala417=) c.999T>C (p.Ala333=) c.501T>C (p.Ala167=) c.771T>C (p.Ala257=) c.1062T>C (p.Ala354=) c.615T>C (p.Ala205=) | |
| 5 | g.161294255A>T | CA447604710 | GABRB2 | c.1365T>A (p.Ala455=) c.*710T>A (n.*710T>A) c.1251T>A (p.Ala417=) c.999T>A (p.Ala333=) c.501T>A (p.Ala167=) c.771T>A (p.Ala257=) c.1062T>A (p.Ala354=) c.615T>A (p.Ala205=) | |
| 5 | g.161294256G>A | CA362173301 | GABRB2 | c.1364C>T (p.Ala455Val) c.*709C>T (n.*709C>T) c.1250C>T (p.Ala417Val) c.998C>T (p.Ala333Val) c.500C>T (p.Ala167Val) c.770C>T (p.Ala257Val) c.1061C>T (p.Ala354Val) c.614C>T (p.Ala205Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161294256G>C | CA362173299 | GABRB2 | c.1364C>G (p.Ala455Gly) c.*709C>G (n.*709C>G) c.1250C>G (p.Ala417Gly) c.998C>G (p.Ala333Gly) c.500C>G (p.Ala167Gly) c.770C>G (p.Ala257Gly) c.1061C>G (p.Ala354Gly) c.614C>G (p.Ala205Gly) | |
| 5 | g.161294256G>T | CA362173300 | GABRB2 | c.1364C>A (p.Ala455Asp) c.*709C>A (n.*709C>A) c.1250C>A (p.Ala417Asp) c.998C>A (p.Ala333Asp) c.500C>A (p.Ala167Asp) c.770C>A (p.Ala257Asp) c.1061C>A (p.Ala354Asp) c.614C>A (p.Ala205Asp) | |
| 5 | g.161294257C>A | CA362173302 | GABRB2 | c.1363G>T (p.Ala455Ser) c.*708G>T (n.*708G>T) c.1249G>T (p.Ala417Ser) c.997G>T (p.Ala333Ser) c.499G>T (p.Ala167Ser) c.769G>T (p.Ala257Ser) c.1060G>T (p.Ala354Ser) c.613G>T (p.Ala205Ser) | |
| 5 | g.161294257C>G | CA362173303 | GABRB2 | c.1363G>C (p.Ala455Pro) c.*708G>C (n.*708G>C) c.1249G>C (p.Ala417Pro) c.997G>C (p.Ala333Pro) c.499G>C (p.Ala167Pro) c.769G>C (p.Ala257Pro) c.1060G>C (p.Ala354Pro) c.613G>C (p.Ala205Pro) | |
| 5 | g.161294257C>T | CA362173304 | GABRB2 | c.1363G>A (p.Ala455Thr) c.*708G>A (n.*708G>A) c.1249G>A (p.Ala417Thr) c.997G>A (p.Ala333Thr) c.499G>A (p.Ala167Thr) c.769G>A (p.Ala257Thr) c.1060G>A (p.Ala354Thr) c.613G>A (p.Ala205Thr) | |
| 5 | g.161294258A>C | CA362173305 | GABRB2 | c.1362T>G (p.Asn454Lys) c.*707T>G (n.*707T>G) c.1248T>G (p.Asn416Lys) c.996T>G (p.Asn332Lys) c.498T>G (p.Asn166Lys) c.768T>G (p.Asn256Lys) c.1059T>G (p.Asn353Lys) c.612T>G (p.Asn204Lys) | |
| 5 | g.161294258A>G | CA447604720 | GABRB2 | c.1362T>C (p.Asn454=) c.*707T>C (n.*707T>C) c.1248T>C (p.Asn416=) c.996T>C (p.Asn332=) c.498T>C (p.Asn166=) c.768T>C (p.Asn256=) c.1059T>C (p.Asn353=) c.612T>C (p.Asn204=) | |
| 5 | g.161294258A>T | CA362173306 | GABRB2 | c.1362T>A (p.Asn454Lys) c.*707T>A (n.*707T>A) c.1248T>A (p.Asn416Lys) c.996T>A (p.Asn332Lys) c.498T>A (p.Asn166Lys) c.768T>A (p.Asn256Lys) c.1059T>A (p.Asn353Lys) c.612T>A (p.Asn204Lys) | |
| 5 | g.161294259T>A | CA362173307 | GABRB2 | c.1361A>T (p.Asn454Ile) c.*706A>T (n.*706A>T) c.1247A>T (p.Asn416Ile) c.995A>T (p.Asn332Ile) c.497A>T (p.Asn166Ile) c.767A>T (p.Asn256Ile) c.1058A>T (p.Asn353Ile) c.611A>T (p.Asn204Ile) | |
| 5 | g.161294259T>C | CA362173309 | GABRB2 | c.1361A>G (p.Asn454Ser) c.*706A>G (n.*706A>G) c.1247A>G (p.Asn416Ser) c.995A>G (p.Asn332Ser) c.497A>G (p.Asn166Ser) c.767A>G (p.Asn256Ser) c.1058A>G (p.Asn353Ser) c.611A>G (p.Asn204Ser) | dbSNP |
| 5 | g.161294259T>G | CA362173308 | GABRB2 | c.1361A>C (p.Asn454Thr) c.*706A>C (n.*706A>C) c.1247A>C (p.Asn416Thr) c.995A>C (p.Asn332Thr) c.497A>C (p.Asn166Thr) c.767A>C (p.Asn256Thr) c.1058A>C (p.Asn353Thr) c.611A>C (p.Asn204Thr) | gnomAD v4 |
| 5 | g.161294259T= | CA1595966826 | GABRB2 | c.1361A= (p.Asn454=) c.*706A= (n.*706A=) c.1247A= (p.Asn416=) c.995A= (p.Asn332=) c.497A= (p.Asn166=) c.767A= (p.Asn256=) c.1058A= (p.Asn353=) c.611A= (p.Asn204=) | |
| 5 | g.161294260T>A | CA362173310 | GABRB2 | c.1360A>T (p.Asn454Tyr) c.*705A>T (n.*705A>T) c.1246A>T (p.Asn416Tyr) c.994A>T (p.Asn332Tyr) c.496A>T (p.Asn166Tyr) c.766A>T (p.Asn256Tyr) c.1057A>T (p.Asn353Tyr) c.610A>T (p.Asn204Tyr) | |
| 5 | g.161294260T>C | CA362173311 | GABRB2 | c.1360A>G (p.Asn454Asp) c.*705A>G (n.*705A>G) c.1246A>G (p.Asn416Asp) c.994A>G (p.Asn332Asp) c.496A>G (p.Asn166Asp) c.766A>G (p.Asn256Asp) c.1057A>G (p.Asn353Asp) c.610A>G (p.Asn204Asp) | |
| 5 | g.161294260T>G | CA362173312 | GABRB2 | c.1360A>C (p.Asn454His) c.*705A>C (n.*705A>C) c.1246A>C (p.Asn416His) c.994A>C (p.Asn332His) c.496A>C (p.Asn166His) c.766A>C (p.Asn256His) c.1057A>C (p.Asn353His) c.610A>C (p.Asn204His) | dbSNP gnomAD v4 |
| 5 | g.161294260T= | CA1595966828 | GABRB2 | c.1360A= (p.Asn454=) c.*705A= (n.*705A=) c.1246A= (p.Asn416=) c.994A= (p.Asn332=) c.496A= (p.Asn166=) c.766A= (p.Asn256=) c.1057A= (p.Asn353=) c.610A= (p.Asn204=) | |
| 5 | g.161294261T>A | CA447604721 | GABRB2 | c.1359A>T (p.Arg453=) c.*704A>T (n.*704A>T) c.1245A>T (p.Arg415=) c.993A>T (p.Arg331=) c.495A>T (p.Arg165=) c.765A>T (p.Arg255=) c.1056A>T (p.Arg352=) c.609A>T (p.Arg203=) | |
| 5 | g.161294261T>C | CA447604722 | GABRB2 | c.1359A>G (p.Arg453=) c.*704A>G (n.*704A>G) c.1245A>G (p.Arg415=) c.993A>G (p.Arg331=) c.495A>G (p.Arg165=) c.765A>G (p.Arg255=) c.1056A>G (p.Arg352=) c.609A>G (p.Arg203=) | |
| 5 | g.161294261T>G | CA447604723 | GABRB2 | c.1359A>C (p.Arg453=) c.*704A>C (n.*704A>C) c.1245A>C (p.Arg415=) c.993A>C (p.Arg331=) c.495A>C (p.Arg165=) c.765A>C (p.Arg255=) c.1056A>C (p.Arg352=) c.609A>C (p.Arg203=) | |
| 5 | g.161294262C>A | CA362173313 | GABRB2 | c.1358G>T (p.Arg453Leu) c.*703G>T (n.*703G>T) c.1244G>T (p.Arg415Leu) c.992G>T (p.Arg331Leu) c.494G>T (p.Arg165Leu) c.764G>T (p.Arg255Leu) c.1055G>T (p.Arg352Leu) c.608G>T (p.Arg203Leu) | |
| 5 | g.161294262C= | CA1595966831 | GABRB2 | c.1358G= (p.Arg453=) c.*703G= (n.*703G=) c.1244G= (p.Arg415=) c.992G= (p.Arg331=) c.494G= (p.Arg165=) c.764G= (p.Arg255=) c.1055G= (p.Arg352=) c.608G= (p.Arg203=) | |
| 5 | g.161294262C>G | CA362173314 | GABRB2 | c.1358G>C (p.Arg453Pro) c.*703G>C (n.*703G>C) c.1244G>C (p.Arg415Pro) c.992G>C (p.Arg331Pro) c.494G>C (p.Arg165Pro) c.764G>C (p.Arg255Pro) c.1055G>C (p.Arg352Pro) c.608G>C (p.Arg203Pro) | gnomAD v4 |
| 5 | g.161294262C>T | CA3543333 | GABRB2 | c.1358G>A (p.Arg453Gln) c.*703G>A (n.*703G>A) c.1244G>A (p.Arg415Gln) c.992G>A (p.Arg331Gln) c.494G>A (p.Arg165Gln) c.764G>A (p.Arg255Gln) c.1055G>A (p.Arg352Gln) c.608G>A (p.Arg203Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161294263G>A | CA362173315 | GABRB2 | c.1357C>T (p.Arg453Ter) c.*702C>T (n.*702C>T) c.1243C>T (p.Arg415Ter) c.991C>T (p.Arg331Ter) c.493C>T (p.Arg165Ter) c.763C>T (p.Arg255Ter) c.1054C>T (p.Arg352Ter) c.607C>T (p.Arg203Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161294263G>C | CA362173316 | GABRB2 | c.1357C>G (p.Arg453Gly) c.*702C>G (n.*702C>G) c.1243C>G (p.Arg415Gly) c.991C>G (p.Arg331Gly) c.493C>G (p.Arg165Gly) c.763C>G (p.Arg255Gly) c.1054C>G (p.Arg352Gly) c.607C>G (p.Arg203Gly) | |
| 5 | g.161294263G= | CA1595966836 | GABRB2 | c.1357C= (p.Arg453=) c.*702C= (n.*702C=) c.1243C= (p.Arg415=) c.991C= (p.Arg331=) c.493C= (p.Arg165=) c.763C= (p.Arg255=) c.1054C= (p.Arg352=) c.607C= (p.Arg203=) | |
| 5 | g.161294263G>T | CA447604724 | GABRB2 | c.1357C>A (p.Arg453=) c.*702C>A (n.*702C>A) c.1243C>A (p.Arg415=) c.991C>A (p.Arg331=) c.493C>A (p.Arg165=) c.763C>A (p.Arg255=) c.1054C>A (p.Arg352=) c.607C>A (p.Arg203=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161294264G>A | CA447604725 | GABRB2 | c.1356C>T (p.Gly452=) c.*701C>T (n.*701C>T) c.1242C>T (p.Gly414=) c.990C>T (p.Gly330=) c.492C>T (p.Gly164=) c.762C>T (p.Gly254=) c.1053C>T (p.Gly351=) c.606C>T (p.Gly202=) | |
| 5 | g.161294264G>C | CA447604726 | GABRB2 | c.1356C>G (p.Gly452=) c.*701C>G (n.*701C>G) c.1242C>G (p.Gly414=) c.990C>G (p.Gly330=) c.492C>G (p.Gly164=) c.762C>G (p.Gly254=) c.1053C>G (p.Gly351=) c.606C>G (p.Gly202=) | |
| 5 | g.161294264G>T | CA447604727 | GABRB2 | c.1356C>A (p.Gly452=) c.*701C>A (n.*701C>A) c.1242C>A (p.Gly414=) c.990C>A (p.Gly330=) c.492C>A (p.Gly164=) c.762C>A (p.Gly254=) c.1053C>A (p.Gly351=) c.606C>A (p.Gly202=) | gnomAD v4 |
| 5 | g.161294265C>A | CA362173317 | GABRB2 | c.1355G>T (p.Gly452Val) c.*700G>T (n.*700G>T) c.1241G>T (p.Gly414Val) c.989G>T (p.Gly330Val) c.491G>T (p.Gly164Val) c.761G>T (p.Gly254Val) c.1052G>T (p.Gly351Val) c.605G>T (p.Gly202Val) | |
| 5 | g.161294265C>G | CA362173318 | GABRB2 | c.1355G>C (p.Gly452Ala) c.*700G>C (n.*700G>C) c.1241G>C (p.Gly414Ala) c.989G>C (p.Gly330Ala) c.491G>C (p.Gly164Ala) c.761G>C (p.Gly254Ala) c.1052G>C (p.Gly351Ala) c.605G>C (p.Gly202Ala) | |
| 5 | g.161294265C>T | CA362173319 | GABRB2 | c.1355G>A (p.Gly452Asp) c.*700G>A (n.*700G>A) c.1241G>A (p.Gly414Asp) c.989G>A (p.Gly330Asp) c.491G>A (p.Gly164Asp) c.761G>A (p.Gly254Asp) c.1052G>A (p.Gly351Asp) c.605G>A (p.Gly202Asp) | |
| 5 | g.161294266C>A | CA362173320 | GABRB2 | c.1354G>T (p.Gly452Cys) c.*699G>T (n.*699G>T) c.1240G>T (p.Gly414Cys) c.988G>T (p.Gly330Cys) c.490G>T (p.Gly164Cys) c.760G>T (p.Gly254Cys) c.1051G>T (p.Gly351Cys) c.604G>T (p.Gly202Cys) | |
| 5 | g.161294266C= | CA1595966840 | GABRB2 | c.1354G= (p.Gly452=) c.*699G= (n.*699G=) c.1240G= (p.Gly414=) c.988G= (p.Gly330=) c.490G= (p.Gly164=) c.760G= (p.Gly254=) c.1051G= (p.Gly351=) c.604G= (p.Gly202=) | |
| 5 | g.161294266C>G | CA362173322 | GABRB2 | c.1354G>C (p.Gly452Arg) c.*699G>C (n.*699G>C) c.1240G>C (p.Gly414Arg) c.988G>C (p.Gly330Arg) c.490G>C (p.Gly164Arg) c.760G>C (p.Gly254Arg) c.1051G>C (p.Gly351Arg) c.604G>C (p.Gly202Arg) | |
| 5 | g.161294266C>T | CA362173321 | GABRB2 | c.1354G>A (p.Gly452Ser) c.*699G>A (n.*699G>A) c.1240G>A (p.Gly414Ser) c.988G>A (p.Gly330Ser) c.490G>A (p.Gly164Ser) c.760G>A (p.Gly254Ser) c.1051G>A (p.Gly351Ser) c.604G>A (p.Gly202Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161294267A>C | CA362173323 | GABRB2 | c.1353T>G (p.Phe451Leu) c.*698T>G (n.*698T>G) c.1239T>G (p.Phe413Leu) c.987T>G (p.Phe329Leu) c.489T>G (p.Phe163Leu) c.759T>G (p.Phe253Leu) c.1050T>G (p.Phe350Leu) c.603T>G (p.Phe201Leu) | |
| 5 | g.161294267A>G | CA447604728 | GABRB2 | c.1353T>C (p.Phe451=) c.*698T>C (n.*698T>C) c.1239T>C (p.Phe413=) c.987T>C (p.Phe329=) c.489T>C (p.Phe163=) c.759T>C (p.Phe253=) c.1050T>C (p.Phe350=) c.603T>C (p.Phe201=) | |
| 5 | g.161294267A>T | CA362173324 | GABRB2 | c.1353T>A (p.Phe451Leu) c.*698T>A (n.*698T>A) c.1239T>A (p.Phe413Leu) c.987T>A (p.Phe329Leu) c.489T>A (p.Phe163Leu) c.759T>A (p.Phe253Leu) c.1050T>A (p.Phe350Leu) c.603T>A (p.Phe201Leu) | |
| 5 | g.161294268A= | CA1595966845 | GABRB2 | c.1352T= (p.Phe451=) c.*697T= (n.*697T=) c.1238T= (p.Phe413=) c.986T= (p.Phe329=) c.488T= (p.Phe163=) c.758T= (p.Phe253=) c.1049T= (p.Phe350=) c.602T= (p.Phe201=) | |
| 5 | g.161294268A>C | CA362173325 | GABRB2 | c.1352T>G (p.Phe451Cys) c.*697T>G (n.*697T>G) c.1238T>G (p.Phe413Cys) c.986T>G (p.Phe329Cys) c.488T>G (p.Phe163Cys) c.758T>G (p.Phe253Cys) c.1049T>G (p.Phe350Cys) c.602T>G (p.Phe201Cys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161294268A>G | CA362173326 | GABRB2 | c.1352T>C (p.Phe451Ser) c.*697T>C (n.*697T>C) c.1238T>C (p.Phe413Ser) c.986T>C (p.Phe329Ser) c.488T>C (p.Phe163Ser) c.758T>C (p.Phe253Ser) c.1049T>C (p.Phe350Ser) c.602T>C (p.Phe201Ser) | gnomAD v4 |
| 5 | g.161294268A>T | CA362173327 | GABRB2 | c.1352T>A (p.Phe451Tyr) c.*697T>A (n.*697T>A) c.1238T>A (p.Phe413Tyr) c.986T>A (p.Phe329Tyr) c.488T>A (p.Phe163Tyr) c.758T>A (p.Phe253Tyr) c.1049T>A (p.Phe350Tyr) c.602T>A (p.Phe201Tyr) | |
| 5 | g.161294269A>C | CA362173328 | GABRB2 | c.1351T>G (p.Phe451Val) c.*696T>G (n.*696T>G) c.1237T>G (p.Phe413Val) c.985T>G (p.Phe329Val) c.487T>G (p.Phe163Val) c.757T>G (p.Phe253Val) c.1048T>G (p.Phe350Val) c.601T>G (p.Phe201Val) | |
| 5 | g.161294269A>G | CA362173329 | GABRB2 | c.1351T>C (p.Phe451Leu) c.*696T>C (n.*696T>C) c.1237T>C (p.Phe413Leu) c.985T>C (p.Phe329Leu) c.487T>C (p.Phe163Leu) c.757T>C (p.Phe253Leu) c.1048T>C (p.Phe350Leu) c.601T>C (p.Phe201Leu) | COSMIC COSMIC |
| 5 | g.161294269A>T | CA362173330 | GABRB2 | c.1351T>A (p.Phe451Ile) c.*696T>A (n.*696T>A) c.1237T>A (p.Phe413Ile) c.985T>A (p.Phe329Ile) c.487T>A (p.Phe163Ile) c.757T>A (p.Phe253Ile) c.1048T>A (p.Phe350Ile) c.601T>A (p.Phe201Ile) | |
| 5 | g.161294270A>C | CA362173331 | GABRB2 | c.1350T>G (p.Ser450Arg) c.*695T>G (n.*695T>G) c.1236T>G (p.Ser412Arg) c.984T>G (p.Ser328Arg) c.486T>G (p.Ser162Arg) c.756T>G (p.Ser252Arg) c.1047T>G (p.Ser349Arg) c.600T>G (p.Ser200Arg) | |
| 5 | g.161294270A>G | CA447604729 | GABRB2 | c.1350T>C (p.Ser450=) c.*695T>C (n.*695T>C) c.1236T>C (p.Ser412=) c.984T>C (p.Ser328=) c.486T>C (p.Ser162=) c.756T>C (p.Ser252=) c.1047T>C (p.Ser349=) c.600T>C (p.Ser200=) | |
| 5 | g.161294270A>T | CA362173332 | GABRB2 | c.1350T>A (p.Ser450Arg) c.*695T>A (n.*695T>A) c.1236T>A (p.Ser412Arg) c.984T>A (p.Ser328Arg) c.486T>A (p.Ser162Arg) c.756T>A (p.Ser252Arg) c.1047T>A (p.Ser349Arg) c.600T>A (p.Ser200Arg) | |
| 5 | g.161294271C>A | CA362173333 | GABRB2 | c.1349G>T (p.Ser450Ile) c.*694G>T (n.*694G>T) c.1235G>T (p.Ser412Ile) c.983G>T (p.Ser328Ile) c.485G>T (p.Ser162Ile) c.755G>T (p.Ser252Ile) c.1046G>T (p.Ser349Ile) c.599G>T (p.Ser200Ile) | |
| 5 | g.161294271C= | CA1595966850 | GABRB2 | c.1349G= (p.Ser450=) c.*694G= (n.*694G=) c.1235G= (p.Ser412=) c.983G= (p.Ser328=) c.485G= (p.Ser162=) c.755G= (p.Ser252=) c.1046G= (p.Ser349=) c.599G= (p.Ser200=) | |
| 5 | g.161294271C>G | CA131016126 | GABRB2 | c.1349G>C (p.Ser450Thr) c.*694G>C (n.*694G>C) c.1235G>C (p.Ser412Thr) c.983G>C (p.Ser328Thr) c.485G>C (p.Ser162Thr) c.755G>C (p.Ser252Thr) c.1046G>C (p.Ser349Thr) c.599G>C (p.Ser200Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161294271C>T | CA3543334 | GABRB2 | c.1349G>A (p.Ser450Asn) c.*694G>A (n.*694G>A) c.1235G>A (p.Ser412Asn) c.983G>A (p.Ser328Asn) c.485G>A (p.Ser162Asn) c.755G>A (p.Ser252Asn) c.1046G>A (p.Ser349Asn) c.599G>A (p.Ser200Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161294272T>A | CA362173335 | GABRB2 | c.1348A>T (p.Ser450Cys) c.*693A>T (n.*693A>T) c.1234A>T (p.Ser412Cys) c.982A>T (p.Ser328Cys) c.484A>T (p.Ser162Cys) c.754A>T (p.Ser252Cys) c.1045A>T (p.Ser349Cys) c.598A>T (p.Ser200Cys) | |
| 5 | g.161294272T>C | CA131016127 | GABRB2 | c.1348A>G (p.Ser450Gly) c.*693A>G (n.*693A>G) c.1234A>G (p.Ser412Gly) c.982A>G (p.Ser328Gly) c.484A>G (p.Ser162Gly) c.754A>G (p.Ser252Gly) c.1045A>G (p.Ser349Gly) c.598A>G (p.Ser200Gly) | dbSNP gnomAD v4 |
| 5 | g.161294272T>G | CA362173334 | GABRB2 | c.1348A>C (p.Ser450Arg) c.*693A>C (n.*693A>C) c.1234A>C (p.Ser412Arg) c.982A>C (p.Ser328Arg) c.484A>C (p.Ser162Arg) c.754A>C (p.Ser252Arg) c.1045A>C (p.Ser349Arg) c.598A>C (p.Ser200Arg) | |
| 5 | g.161294272T= | CA1595966856 | GABRB2 | c.1348A= (p.Ser450=) c.*693A= (n.*693A=) c.1234A= (p.Ser412=) c.982A= (p.Ser328=) c.484A= (p.Ser162=) c.754A= (p.Ser252=) c.1045A= (p.Ser349=) c.598A= (p.Ser200=) | |
| 5 | g.161294273A>C | CA362173336 | GABRB2 | c.1347T>G (p.His449Gln) c.*692T>G (n.*692T>G) c.1233T>G (p.His411Gln) c.981T>G (p.His327Gln) c.483T>G (p.His161Gln) c.753T>G (p.His251Gln) c.1044T>G (p.His348Gln) c.597T>G (p.His199Gln) | |
| 5 | g.161294273A>G | CA447604730 | GABRB2 | c.1347T>C (p.His449=) c.*692T>C (n.*692T>C) c.1233T>C (p.His411=) c.981T>C (p.His327=) c.483T>C (p.His161=) c.753T>C (p.His251=) c.1044T>C (p.His348=) c.597T>C (p.His199=) | |
| 5 | g.161294273A>T | CA362173337 | GABRB2 | c.1347T>A (p.His449Gln) c.*692T>A (n.*692T>A) c.1233T>A (p.His411Gln) c.981T>A (p.His327Gln) c.483T>A (p.His161Gln) c.753T>A (p.His251Gln) c.1044T>A (p.His348Gln) c.597T>A (p.His199Gln) | |
| 5 | g.161294274T>A | CA362173338 | GABRB2 | c.1346A>T (p.His449Leu) c.*691A>T (n.*691A>T) c.1232A>T (p.His411Leu) c.980A>T (p.His327Leu) c.482A>T (p.His161Leu) c.752A>T (p.His251Leu) c.1043A>T (p.His348Leu) c.596A>T (p.His199Leu) | |
| 5 | g.161294274T>C | CA362173339 | GABRB2 | c.1346A>G (p.His449Arg) c.*691A>G (n.*691A>G) c.1232A>G (p.His411Arg) c.980A>G (p.His327Arg) c.482A>G (p.His161Arg) c.752A>G (p.His251Arg) c.1043A>G (p.His348Arg) c.596A>G (p.His199Arg) | ClinVar |
| 5 | g.161294274T>G | CA362173340 | GABRB2 | c.1346A>C (p.His449Pro) c.*691A>C (n.*691A>C) c.1232A>C (p.His411Pro) c.980A>C (p.His327Pro) c.482A>C (p.His161Pro) c.752A>C (p.His251Pro) c.1043A>C (p.His348Pro) c.596A>C (p.His199Pro) | |
| 5 | g.161294275G>A | CA362173341 | GABRB2 | c.1345C>T (p.His449Tyr) c.*690C>T (n.*690C>T) c.1231C>T (p.His411Tyr) c.979C>T (p.His327Tyr) c.481C>T (p.His161Tyr) c.751C>T (p.His251Tyr) c.1042C>T (p.His348Tyr) c.595C>T (p.His199Tyr) | |
| 5 | g.161294275G>C | CA362173342 | GABRB2 | c.1345C>G (p.His449Asp) c.*690C>G (n.*690C>G) c.1231C>G (p.His411Asp) c.979C>G (p.His327Asp) c.481C>G (p.His161Asp) c.751C>G (p.His251Asp) c.1042C>G (p.His348Asp) c.595C>G (p.His199Asp) | |
| 5 | g.161294275G>T | CA362173343 | GABRB2 | c.1345C>A (p.His449Asn) c.*690C>A (n.*690C>A) c.1231C>A (p.His411Asn) c.979C>A (p.His327Asn) c.481C>A (p.His161Asn) c.751C>A (p.His251Asn) c.1042C>A (p.His348Asn) c.595C>A (p.His199Asn) | |
| 5 | g.161294276C>A | CA362173344 | GABRB2 | c.1344G>T (p.Arg448Ser) c.*689G>T (n.*689G>T) c.1230G>T (p.Arg410Ser) c.978G>T (p.Arg326Ser) c.480G>T (p.Arg160Ser) c.750G>T (p.Arg250Ser) c.1041G>T (p.Arg347Ser) c.594G>T (p.Arg198Ser) | |
| 5 | g.161294276C= | CA1595966859 | GABRB2 | c.1344G= (p.Arg448=) c.*689G= (n.*689G=) c.1230G= (p.Arg410=) c.978G= (p.Arg326=) c.480G= (p.Arg160=) c.750G= (p.Arg250=) c.1041G= (p.Arg347=) c.594G= (p.Arg198=) | |
| 5 | g.161294276C>G | CA362173345 | GABRB2 | c.1344G>C (p.Arg448Ser) c.*689G>C (n.*689G>C) c.1230G>C (p.Arg410Ser) c.978G>C (p.Arg326Ser) c.480G>C (p.Arg160Ser) c.750G>C (p.Arg250Ser) c.1041G>C (p.Arg347Ser) c.594G>C (p.Arg198Ser) | dbSNP |
| 5 | g.161294276C>T | CA447604731 | GABRB2 | c.1344G>A (p.Arg448=) c.*689G>A (n.*689G>A) c.1230G>A (p.Arg410=) c.978G>A (p.Arg326=) c.480G>A (p.Arg160=) c.750G>A (p.Arg250=) c.1041G>A (p.Arg347=) c.594G>A (p.Arg198=) | |
| 5 | g.161294277C>A | CA362173346 | GABRB2 | c.1343G>T (p.Arg448Met) c.*688G>T (n.*688G>T) c.1229G>T (p.Arg410Met) c.977G>T (p.Arg326Met) c.479G>T (p.Arg160Met) c.749G>T (p.Arg250Met) c.1040G>T (p.Arg347Met) c.593G>T (p.Arg198Met) | |
| 5 | g.161294277C>G | CA362173347 | GABRB2 | c.1343G>C (p.Arg448Thr) c.*688G>C (n.*688G>C) c.1229G>C (p.Arg410Thr) c.977G>C (p.Arg326Thr) c.479G>C (p.Arg160Thr) c.749G>C (p.Arg250Thr) c.1040G>C (p.Arg347Thr) c.593G>C (p.Arg198Thr) | |
| 5 | g.161294277C>T | CA362173348 | GABRB2 | c.1343G>A (p.Arg448Lys) c.*688G>A (n.*688G>A) c.1229G>A (p.Arg410Lys) c.977G>A (p.Arg326Lys) c.479G>A (p.Arg160Lys) c.749G>A (p.Arg250Lys) c.1040G>A (p.Arg347Lys) c.593G>A (p.Arg198Lys) | |
| 5 | g.161294278T>A | CA362173349 | GABRB2 | c.1342A>T (p.Arg448Trp) c.*687A>T (n.*687A>T) c.1228A>T (p.Arg410Trp) c.976A>T (p.Arg326Trp) c.478A>T (p.Arg160Trp) c.748A>T (p.Arg250Trp) c.1039A>T (p.Arg347Trp) c.592A>T (p.Arg198Trp) | |
| 5 | g.161294278T>C | CA362173350 | GABRB2 | c.1342A>G (p.Arg448Gly) c.*687A>G (n.*687A>G) c.1228A>G (p.Arg410Gly) c.976A>G (p.Arg326Gly) c.478A>G (p.Arg160Gly) c.748A>G (p.Arg250Gly) c.1039A>G (p.Arg347Gly) c.592A>G (p.Arg198Gly) | |
| 5 | g.161294278T>G | CA447604732 | GABRB2 | c.1342A>C (p.Arg448=) c.*687A>C (n.*687A>C) c.1228A>C (p.Arg410=) c.976A>C (p.Arg326=) c.478A>C (p.Arg160=) c.748A>C (p.Arg250=) c.1039A>C (p.Arg347=) c.592A>C (p.Arg198=) | |
| 5 | g.161294279G>A | CA447604733 | GABRB2 | c.1341C>T (p.Pro447=) c.*686C>T (n.*686C>T) c.1227C>T (p.Pro409=) c.975C>T (p.Pro325=) c.477C>T (p.Pro159=) c.747C>T (p.Pro249=) c.1038C>T (p.Pro346=) c.591C>T (p.Pro197=) | |
| 5 | g.161294279G>C | CA447604734 | GABRB2 | c.1341C>G (p.Pro447=) c.*686C>G (n.*686C>G) c.1227C>G (p.Pro409=) c.975C>G (p.Pro325=) c.477C>G (p.Pro159=) c.747C>G (p.Pro249=) c.1038C>G (p.Pro346=) c.591C>G (p.Pro197=) | dbSNP gnomAD v4 |
| 5 | g.161294279G= | CA1595966864 | GABRB2 | c.1341C= (p.Pro447=) c.*686C= (n.*686C=) c.1227C= (p.Pro409=) c.975C= (p.Pro325=) c.477C= (p.Pro159=) c.747C= (p.Pro249=) c.1038C= (p.Pro346=) c.591C= (p.Pro197=) | |
| 5 | g.161294279G>T | CA447604735 | GABRB2 | c.1341C>A (p.Pro447=) c.*686C>A (n.*686C>A) c.1227C>A (p.Pro409=) c.975C>A (p.Pro325=) c.477C>A (p.Pro159=) c.747C>A (p.Pro249=) c.1038C>A (p.Pro346=) c.591C>A (p.Pro197=) | |
| 5 | g.161294281del | CA2676313045 | GABRB2 | c.1341del (p.Arg448GlyfsTer20) c.*686del (n.*686del) c.1227del (p.Arg410GlyfsTer20) c.975del (p.Arg326GlyfsTer20) c.477del (p.Arg160GlyfsTer20) c.747del (p.Arg250GlyfsTer20) c.1038del (p.Arg347GlyfsTer20) c.591del (p.Arg198GlyfsTer20) | gnomAD v4 |
| 5 | g.161294280G>A | CA362173351 | GABRB2 | c.1340C>T (p.Pro447Leu) c.*685C>T (n.*685C>T) c.1226C>T (p.Pro409Leu) c.974C>T (p.Pro325Leu) c.476C>T (p.Pro159Leu) c.746C>T (p.Pro249Leu) c.1037C>T (p.Pro346Leu) c.590C>T (p.Pro197Leu) | |
| 5 | g.161294280G>C | CA362173352 | GABRB2 | c.1340C>G (p.Pro447Arg) c.*685C>G (n.*685C>G) c.1226C>G (p.Pro409Arg) c.974C>G (p.Pro325Arg) c.476C>G (p.Pro159Arg) c.746C>G (p.Pro249Arg) c.1037C>G (p.Pro346Arg) c.590C>G (p.Pro197Arg) | |
| 5 | g.161294280G>T | CA362173353 | GABRB2 | c.1340C>A (p.Pro447His) c.*685C>A (n.*685C>A) c.1226C>A (p.Pro409His) c.974C>A (p.Pro325His) c.476C>A (p.Pro159His) c.746C>A (p.Pro249His) c.1037C>A (p.Pro346His) c.590C>A (p.Pro197His) | COSMIC COSMIC |
| 5 | g.161294281G>A | CA3543335 | GABRB2 | c.1339C>T (p.Pro447Ser) c.*684C>T (n.*684C>T) c.1225C>T (p.Pro409Ser) c.973C>T (p.Pro325Ser) c.475C>T (p.Pro159Ser) c.745C>T (p.Pro249Ser) c.1036C>T (p.Pro346Ser) c.589C>T (p.Pro197Ser) | dbSNP ExAC gnomAD v2 |
| 5 | g.161294281G>C | CA362173354 | GABRB2 | c.1339C>G (p.Pro447Ala) c.*684C>G (n.*684C>G) c.1225C>G (p.Pro409Ala) c.973C>G (p.Pro325Ala) c.475C>G (p.Pro159Ala) c.745C>G (p.Pro249Ala) c.1036C>G (p.Pro346Ala) c.589C>G (p.Pro197Ala) | |
| 5 | g.161294281G= | CA1595966870 | GABRB2 | c.1339C= (p.Pro447=) c.*684C= (n.*684C=) c.1225C= (p.Pro409=) c.973C= (p.Pro325=) c.475C= (p.Pro159=) c.745C= (p.Pro249=) c.1036C= (p.Pro346=) c.589C= (p.Pro197=) | |
| 5 | g.161294281G>T | CA362173355 | GABRB2 | c.1339C>A (p.Pro447Thr) c.*684C>A (n.*684C>A) c.1225C>A (p.Pro409Thr) c.973C>A (p.Pro325Thr) c.475C>A (p.Pro159Thr) c.745C>A (p.Pro249Thr) c.1036C>A (p.Pro346Thr) c.589C>A (p.Pro197Thr) | |
| 5 | g.161294282C>A | CA362173356 | GABRB2 | c.1338G>T (p.Leu446Phe) c.*683G>T (n.*683G>T) c.1224G>T (p.Leu408Phe) c.972G>T (p.Leu324Phe) c.474G>T (p.Leu158Phe) c.744G>T (p.Leu248Phe) c.1035G>T (p.Leu345Phe) c.588G>T (p.Leu196Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161294282C= | CA1595966875 | GABRB2 | c.1338G= (p.Leu446=) c.*683G= (n.*683G=) c.1224G= (p.Leu408=) c.972G= (p.Leu324=) c.474G= (p.Leu158=) c.744G= (p.Leu248=) c.1035G= (p.Leu345=) c.588G= (p.Leu196=) | |
| 5 | g.161294282C>G | CA362173357 | GABRB2 | c.1338G>C (p.Leu446Phe) c.*683G>C (n.*683G>C) c.1224G>C (p.Leu408Phe) c.972G>C (p.Leu324Phe) c.474G>C (p.Leu158Phe) c.744G>C (p.Leu248Phe) c.1035G>C (p.Leu345Phe) c.588G>C (p.Leu196Phe) | |
| 5 | g.161294282C>T | CA447604736 | GABRB2 | c.1338G>A (p.Leu446=) c.*683G>A (n.*683G>A) c.1224G>A (p.Leu408=) c.972G>A (p.Leu324=) c.474G>A (p.Leu158=) c.744G>A (p.Leu248=) c.1035G>A (p.Leu345=) c.588G>A (p.Leu196=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161294283A>C | CA362173358 | GABRB2 | c.1337T>G (p.Leu446Trp) c.*682T>G (n.*682T>G) c.1223T>G (p.Leu408Trp) c.971T>G (p.Leu324Trp) c.473T>G (p.Leu158Trp) c.743T>G (p.Leu248Trp) c.1034T>G (p.Leu345Trp) c.587T>G (p.Leu196Trp) | |
| 5 | g.161294283A>G | CA362173359 | GABRB2 | c.1337T>C (p.Leu446Ser) c.*682T>C (n.*682T>C) c.1223T>C (p.Leu408Ser) c.971T>C (p.Leu324Ser) c.473T>C (p.Leu158Ser) c.743T>C (p.Leu248Ser) c.1034T>C (p.Leu345Ser) c.587T>C (p.Leu196Ser) | |
| 5 | g.161294283A>T | CA362173360 | GABRB2 | c.1337T>A (p.Leu446Ter) c.*682T>A (n.*682T>A) c.1223T>A (p.Leu408Ter) c.971T>A (p.Leu324Ter) c.473T>A (p.Leu158Ter) c.743T>A (p.Leu248Ter) c.1034T>A (p.Leu345Ter) c.587T>A (p.Leu196Ter) | |
| 5 | g.161294284A>C | CA362173361 | GABRB2 | c.1336T>G (p.Leu446Val) c.*681T>G (n.*681T>G) c.1222T>G (p.Leu408Val) c.970T>G (p.Leu324Val) c.472T>G (p.Leu158Val) c.742T>G (p.Leu248Val) c.1033T>G (p.Leu345Val) c.586T>G (p.Leu196Val) | |
| 5 | g.161294284A>G | CA447604737 | GABRB2 | c.1336T>C (p.Leu446=) c.*681T>C (n.*681T>C) c.1222T>C (p.Leu408=) c.970T>C (p.Leu324=) c.472T>C (p.Leu158=) c.742T>C (p.Leu248=) c.1033T>C (p.Leu345=) c.586T>C (p.Leu196=) | |
| 5 | g.161294284A>T | CA362173362 | GABRB2 | c.1336T>A (p.Leu446Met) c.*681T>A (n.*681T>A) c.1222T>A (p.Leu408Met) c.970T>A (p.Leu324Met) c.472T>A (p.Leu158Met) c.742T>A (p.Leu248Met) c.1033T>A (p.Leu345Met) c.586T>A (p.Leu196Met) | |
| 5 | g.161294285C>A | CA447604738 | GABRB2 | c.1335G>T (p.Gly445=) c.*680G>T (n.*680G>T) c.1221G>T (p.Gly407=) c.969G>T (p.Gly323=) c.471G>T (p.Gly157=) c.741G>T (p.Gly247=) c.1032G>T (p.Gly344=) c.585G>T (p.Gly195=) | |
| 5 | g.161294285C>G | CA447604739 | GABRB2 | c.1335G>C (p.Gly445=) c.*680G>C (n.*680G>C) c.1221G>C (p.Gly407=) c.969G>C (p.Gly323=) c.471G>C (p.Gly157=) c.741G>C (p.Gly247=) c.1032G>C (p.Gly344=) c.585G>C (p.Gly195=) | |
| 5 | g.161294285C>T | CA447604740 | GABRB2 | c.1335G>A (p.Gly445=) c.*680G>A (n.*680G>A) c.1221G>A (p.Gly407=) c.969G>A (p.Gly323=) c.471G>A (p.Gly157=) c.741G>A (p.Gly247=) c.1032G>A (p.Gly344=) c.585G>A (p.Gly195=) | |
| 5 | g.161294286C>A | CA362173364 | GABRB2 | c.1334G>T (p.Gly445Val) c.*679G>T (n.*679G>T) c.1220G>T (p.Gly407Val) c.968G>T (p.Gly323Val) c.470G>T (p.Gly157Val) c.740G>T (p.Gly247Val) c.1031G>T (p.Gly344Val) c.584G>T (p.Gly195Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161294286C= | CA1595966881 | GABRB2 | c.1334G= (p.Gly445=) c.*679G= (n.*679G=) c.1220G= (p.Gly407=) c.968G= (p.Gly323=) c.470G= (p.Gly157=) c.740G= (p.Gly247=) c.1031G= (p.Gly344=) c.584G= (p.Gly195=) | |
| 5 | g.161294286C>G | CA362173363 | GABRB2 | c.1334G>C (p.Gly445Ala) c.*679G>C (n.*679G>C) c.1220G>C (p.Gly407Ala) c.968G>C (p.Gly323Ala) c.470G>C (p.Gly157Ala) c.740G>C (p.Gly247Ala) c.1031G>C (p.Gly344Ala) c.584G>C (p.Gly195Ala) | |
| 5 | g.161294286C>T | CA3543336 | GABRB2 | c.1334G>A (p.Gly445Glu) c.*679G>A (n.*679G>A) c.1220G>A (p.Gly407Glu) c.968G>A (p.Gly323Glu) c.470G>A (p.Gly157Glu) c.740G>A (p.Gly247Glu) c.1031G>A (p.Gly344Glu) c.584G>A (p.Gly195Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161294287C>A | CA362173365 | GABRB2 | c.1333G>T (p.Gly445Trp) c.*678G>T (n.*678G>T) c.1219G>T (p.Gly407Trp) c.967G>T (p.Gly323Trp) c.469G>T (p.Gly157Trp) c.739G>T (p.Gly247Trp) c.1030G>T (p.Gly344Trp) c.583G>T (p.Gly195Trp) | |
| 5 | g.161294287C>G | CA362173366 | GABRB2 | c.1333G>C (p.Gly445Arg) c.*678G>C (n.*678G>C) c.1219G>C (p.Gly407Arg) c.967G>C (p.Gly323Arg) c.469G>C (p.Gly157Arg) c.739G>C (p.Gly247Arg) c.1030G>C (p.Gly344Arg) c.583G>C (p.Gly195Arg) | |
| 5 | g.161294287C>T | CA362173367 | GABRB2 | c.1333G>A (p.Gly445Arg) c.*678G>A (n.*678G>A) c.1219G>A (p.Gly407Arg) c.967G>A (p.Gly323Arg) c.469G>A (p.Gly157Arg) c.739G>A (p.Gly247Arg) c.1030G>A (p.Gly344Arg) c.583G>A (p.Gly195Arg) | |
| 5 | g.161294288A>C | CA447604741 | GABRB2 | c.1332T>G (p.Ala444=) c.*677T>G (n.*677T>G) c.1218T>G (p.Ala406=) c.966T>G (p.Ala322=) c.468T>G (p.Ala156=) c.738T>G (p.Ala246=) c.1029T>G (p.Ala343=) c.582T>G (p.Ala194=) | |
| 5 | g.161294288A>G | CA447604742 | GABRB2 | c.1332T>C (p.Ala444=) c.*677T>C (n.*677T>C) c.1218T>C (p.Ala406=) c.966T>C (p.Ala322=) c.468T>C (p.Ala156=) c.738T>C (p.Ala246=) c.1029T>C (p.Ala343=) c.582T>C (p.Ala194=) | dbSNP gnomAD v4 |
| 5 | g.161294288A>T | CA447604743 | GABRB2 | c.1332T>A (p.Ala444=) c.*677T>A (n.*677T>A) c.1218T>A (p.Ala406=) c.966T>A (p.Ala322=) c.468T>A (p.Ala156=) c.738T>A (p.Ala246=) c.1029T>A (p.Ala343=) c.582T>A (p.Ala194=) | |
| 5 | g.161294289G>A | CA3543337 | GABRB2 | c.1331C>T (p.Ala444Val) c.*676C>T (n.*676C>T) c.1217C>T (p.Ala406Val) c.965C>T (p.Ala322Val) c.467C>T (p.Ala156Val) c.737C>T (p.Ala246Val) c.1028C>T (p.Ala343Val) c.581C>T (p.Ala194Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161294289G>C | CA3543338 | GABRB2 | c.1331C>G (p.Ala444Gly) c.*676C>G (n.*676C>G) c.1217C>G (p.Ala406Gly) c.965C>G (p.Ala322Gly) c.467C>G (p.Ala156Gly) c.737C>G (p.Ala246Gly) c.1028C>G (p.Ala343Gly) c.581C>G (p.Ala194Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161294289G= | CA1595966886 | GABRB2 | c.1331C= (p.Ala444=) c.*676C= (n.*676C=) c.1217C= (p.Ala406=) c.965C= (p.Ala322=) c.467C= (p.Ala156=) c.737C= (p.Ala246=) c.1028C= (p.Ala343=) c.581C= (p.Ala194=) | |
| 5 | g.161294289G>T | CA362173368 | GABRB2 | c.1331C>A (p.Ala444Asp) c.*676C>A (n.*676C>A) c.1217C>A (p.Ala406Asp) c.965C>A (p.Ala322Asp) c.467C>A (p.Ala156Asp) c.737C>A (p.Ala246Asp) c.1028C>A (p.Ala343Asp) c.581C>A (p.Ala194Asp) | |
| 5 | g.161294290C>A | CA362173369 | GABRB2 | c.1330G>T (p.Ala444Ser) c.*675G>T (n.*675G>T) c.1216G>T (p.Ala406Ser) c.964G>T (p.Ala322Ser) c.466G>T (p.Ala156Ser) c.736G>T (p.Ala246Ser) c.1027G>T (p.Ala343Ser) c.580G>T (p.Ala194Ser) | gnomAD v4 COSMIC COSMIC |
| 5 | g.161294290C>G | CA362173370 | GABRB2 | c.1330G>C (p.Ala444Pro) c.*675G>C (n.*675G>C) c.1216G>C (p.Ala406Pro) c.964G>C (p.Ala322Pro) c.466G>C (p.Ala156Pro) c.736G>C (p.Ala246Pro) c.1027G>C (p.Ala343Pro) c.580G>C (p.Ala194Pro) | gnomAD v4 |
| 5 | g.161294290C>T | CA362173371 | GABRB2 | c.1330G>A (p.Ala444Thr) c.*675G>A (n.*675G>A) c.1216G>A (p.Ala406Thr) c.964G>A (p.Ala322Thr) c.466G>A (p.Ala156Thr) c.736G>A (p.Ala246Thr) c.1027G>A (p.Ala343Thr) c.580G>A (p.Ala194Thr) | |
| 5 | g.161294291T>A | CA362173372 | GABRB2 | c.1329A>T (p.Lys443Asn) c.*674A>T (n.*674A>T) c.1215A>T (p.Lys405Asn) c.963A>T (p.Lys321Asn) c.465A>T (p.Lys155Asn) c.735A>T (p.Lys245Asn) c.1026A>T (p.Lys342Asn) c.579A>T (p.Lys193Asn) | |
| 5 | g.161294291T>C | CA447604744 | GABRB2 | c.1329A>G (p.Lys443=) c.*674A>G (n.*674A>G) c.1215A>G (p.Lys405=) c.963A>G (p.Lys321=) c.465A>G (p.Lys155=) c.735A>G (p.Lys245=) c.1026A>G (p.Lys342=) c.579A>G (p.Lys193=) | |
| 5 | g.161294291T>G | CA362173373 | GABRB2 | c.1329A>C (p.Lys443Asn) c.*674A>C (n.*674A>C) c.1215A>C (p.Lys405Asn) c.963A>C (p.Lys321Asn) c.465A>C (p.Lys155Asn) c.735A>C (p.Lys245Asn) c.1026A>C (p.Lys342Asn) c.579A>C (p.Lys193Asn) | |
| 5 | g.161294292T>A | CA362173376 | GABRB2 | c.1328A>T (p.Lys443Ile) c.*673A>T (n.*673A>T) c.1214A>T (p.Lys405Ile) c.962A>T (p.Lys321Ile) c.464A>T (p.Lys155Ile) c.734A>T (p.Lys245Ile) c.1025A>T (p.Lys342Ile) c.578A>T (p.Lys193Ile) | |
| 5 | g.161294292T>C | CA362173375 | GABRB2 | c.1328A>G (p.Lys443Arg) c.*673A>G (n.*673A>G) c.1214A>G (p.Lys405Arg) c.962A>G (p.Lys321Arg) c.464A>G (p.Lys155Arg) c.734A>G (p.Lys245Arg) c.1025A>G (p.Lys342Arg) c.578A>G (p.Lys193Arg) | |
| 5 | g.161294292T>G | CA362173374 | GABRB2 | c.1328A>C (p.Lys443Thr) c.*673A>C (n.*673A>C) c.1214A>C (p.Lys405Thr) c.962A>C (p.Lys321Thr) c.464A>C (p.Lys155Thr) c.734A>C (p.Lys245Thr) c.1025A>C (p.Lys342Thr) c.578A>C (p.Lys193Thr) | |
| 5 | g.161294293T>A | CA362173377 | GABRB2 | c.1327A>T (p.Lys443Ter) c.*672A>T (n.*672A>T) c.1213A>T (p.Lys405Ter) c.961A>T (p.Lys321Ter) c.463A>T (p.Lys155Ter) c.733A>T (p.Lys245Ter) c.1024A>T (p.Lys342Ter) c.577A>T (p.Lys193Ter) | |
| 5 | g.161294293T>C | CA362173379 | GABRB2 | c.1327A>G (p.Lys443Glu) c.*672A>G (n.*672A>G) c.1213A>G (p.Lys405Glu) c.961A>G (p.Lys321Glu) c.463A>G (p.Lys155Glu) c.733A>G (p.Lys245Glu) c.1024A>G (p.Lys342Glu) c.577A>G (p.Lys193Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161294293T>G | CA362173378 | GABRB2 | c.1327A>C (p.Lys443Gln) c.*672A>C (n.*672A>C) c.1213A>C (p.Lys405Gln) c.961A>C (p.Lys321Gln) c.463A>C (p.Lys155Gln) c.733A>C (p.Lys245Gln) c.1024A>C (p.Lys342Gln) c.577A>C (p.Lys193Gln) | |
| 5 | g.161294293T= | CA1595966889 | GABRB2 | c.1327A= (p.Lys443=) c.*672A= (n.*672A=) c.1213A= (p.Lys405=) c.961A= (p.Lys321=) c.463A= (p.Lys155=) c.733A= (p.Lys245=) c.1024A= (p.Lys342=) c.577A= (p.Lys193=) | |
| 5 | g.161294294C>A | CA447604745 | GABRB2 | c.1326G>T (p.Arg442=) c.*671G>T (n.*671G>T) c.1212G>T (p.Arg404=) c.960G>T (p.Arg320=) c.462G>T (p.Arg154=) c.732G>T (p.Arg244=) c.1023G>T (p.Arg341=) c.576G>T (p.Arg192=) | |
| 5 | g.161294294C>G | CA447604746 | GABRB2 | c.1326G>C (p.Arg442=) c.*671G>C (n.*671G>C) c.1212G>C (p.Arg404=) c.960G>C (p.Arg320=) c.462G>C (p.Arg154=) c.732G>C (p.Arg244=) c.1023G>C (p.Arg341=) c.576G>C (p.Arg192=) | |
| 5 | g.161294294C>T | CA447604747 | GABRB2 | c.1326G>A (p.Arg442=) c.*671G>A (n.*671G>A) c.1212G>A (p.Arg404=) c.960G>A (p.Arg320=) c.462G>A (p.Arg154=) c.732G>A (p.Arg244=) c.1023G>A (p.Arg341=) c.576G>A (p.Arg192=) | |
| 5 | g.161294295C>A | CA362173380 | GABRB2 | c.1325G>T (p.Arg442Leu) c.*670G>T (n.*670G>T) c.1211G>T (p.Arg404Leu) c.959G>T (p.Arg320Leu) c.461G>T (p.Arg154Leu) c.731G>T (p.Arg244Leu) c.1022G>T (p.Arg341Leu) c.575G>T (p.Arg192Leu) | gnomAD v4 |
| 5 | g.161294295C= | CA1595966893 | GABRB2 | c.1325G= (p.Arg442=) c.*670G= (n.*670G=) c.1211G= (p.Arg404=) c.959G= (p.Arg320=) c.461G= (p.Arg154=) c.731G= (p.Arg244=) c.1022G= (p.Arg341=) c.575G= (p.Arg192=) | |
| 5 | g.161294295C>G | CA362173381 | GABRB2 | c.1325G>C (p.Arg442Pro) c.*670G>C (n.*670G>C) c.1211G>C (p.Arg404Pro) c.959G>C (p.Arg320Pro) c.461G>C (p.Arg154Pro) c.731G>C (p.Arg244Pro) c.1022G>C (p.Arg341Pro) c.575G>C (p.Arg192Pro) | |
| 5 | g.161294295C>T | CA3543339 | GABRB2 | c.1325G>A (p.Arg442Gln) c.*670G>A (n.*670G>A) c.1211G>A (p.Arg404Gln) c.959G>A (p.Arg320Gln) c.461G>A (p.Arg154Gln) c.731G>A (p.Arg244Gln) c.1022G>A (p.Arg341Gln) c.575G>A (p.Arg192Gln) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161294296G>A | CA362173382 | GABRB2 | c.1324C>T (p.Arg442Trp) c.*669C>T (n.*669C>T) c.1210C>T (p.Arg404Trp) c.958C>T (p.Arg320Trp) c.460C>T (p.Arg154Trp) c.730C>T (p.Arg244Trp) c.1021C>T (p.Arg341Trp) c.574C>T (p.Arg192Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161294296G>C | CA362173383 | GABRB2 | c.1324C>G (p.Arg442Gly) c.*669C>G (n.*669C>G) c.1210C>G (p.Arg404Gly) c.958C>G (p.Arg320Gly) c.460C>G (p.Arg154Gly) c.730C>G (p.Arg244Gly) c.1021C>G (p.Arg341Gly) c.574C>G (p.Arg192Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161294296G= | CA1595966898 | GABRB2 | c.1324C= (p.Arg442=) c.*669C= (n.*669C=) c.1210C= (p.Arg404=) c.958C= (p.Arg320=) c.460C= (p.Arg154=) c.730C= (p.Arg244=) c.1021C= (p.Arg341=) c.574C= (p.Arg192=) | |
| 5 | g.161294296G>T | CA447604748 | GABRB2 | c.1324C>A (p.Arg442=) c.*669C>A (n.*669C>A) c.1210C>A (p.Arg404=) c.958C>A (p.Arg320=) c.460C>A (p.Arg154=) c.730C>A (p.Arg244=) c.1021C>A (p.Arg341=) c.574C>A (p.Arg192=) | |
| 5 | g.161294297A>C | CA362173384 | GABRB2 | c.1323T>G (p.Tyr441Ter) c.*668T>G (n.*668T>G) c.1209T>G (p.Tyr403Ter) c.957T>G (p.Tyr319Ter) c.459T>G (p.Tyr153Ter) c.729T>G (p.Tyr243Ter) c.1020T>G (p.Tyr340Ter) c.573T>G (p.Tyr191Ter) | |
| 5 | g.161294297A>G | CA447604749 | GABRB2 | c.1323T>C (p.Tyr441=) c.*668T>C (n.*668T>C) c.1209T>C (p.Tyr403=) c.957T>C (p.Tyr319=) c.459T>C (p.Tyr153=) c.729T>C (p.Tyr243=) c.1020T>C (p.Tyr340=) c.573T>C (p.Tyr191=) | |
| 5 | g.161294297A>T | CA362173385 | GABRB2 | c.1323T>A (p.Tyr441Ter) c.*668T>A (n.*668T>A) c.1209T>A (p.Tyr403Ter) c.957T>A (p.Tyr319Ter) c.459T>A (p.Tyr153Ter) c.729T>A (p.Tyr243Ter) c.1020T>A (p.Tyr340Ter) c.573T>A (p.Tyr191Ter) | |
| 5 | g.161294298T>A | CA362173386 | GABRB2 | c.1322A>T (p.Tyr441Phe) c.*667A>T (n.*667A>T) c.1208A>T (p.Tyr403Phe) c.956A>T (p.Tyr319Phe) c.458A>T (p.Tyr153Phe) c.728A>T (p.Tyr243Phe) c.1019A>T (p.Tyr340Phe) c.572A>T (p.Tyr191Phe) | |
| 5 | g.161294298T>C | CA362173387 | GABRB2 | c.1322A>G (p.Tyr441Cys) c.*667A>G (n.*667A>G) c.1208A>G (p.Tyr403Cys) c.956A>G (p.Tyr319Cys) c.458A>G (p.Tyr153Cys) c.728A>G (p.Tyr243Cys) c.1019A>G (p.Tyr340Cys) c.572A>G (p.Tyr191Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161294298T>G | CA362173388 | GABRB2 | c.1322A>C (p.Tyr441Ser) c.*667A>C (n.*667A>C) c.1208A>C (p.Tyr403Ser) c.956A>C (p.Tyr319Ser) c.458A>C (p.Tyr153Ser) c.728A>C (p.Tyr243Ser) c.1019A>C (p.Tyr340Ser) c.572A>C (p.Tyr191Ser) | |
| 5 | g.161294298T= | CA1595966901 | GABRB2 | c.1322A= (p.Tyr441=) c.*667A= (n.*667A=) c.1208A= (p.Tyr403=) c.956A= (p.Tyr319=) c.458A= (p.Tyr153=) c.728A= (p.Tyr243=) c.1019A= (p.Tyr340=) c.572A= (p.Tyr191=) | |
| 5 | g.161294299A>C | CA362173389 | GABRB2 | c.1321T>G (p.Tyr441Asp) c.*666T>G (n.*666T>G) c.1207T>G (p.Tyr403Asp) c.955T>G (p.Tyr319Asp) c.457T>G (p.Tyr153Asp) c.727T>G (p.Tyr243Asp) c.1018T>G (p.Tyr340Asp) c.571T>G (p.Tyr191Asp) | |
| 5 | g.161294299A>G | CA362173390 | GABRB2 | c.1321T>C (p.Tyr441His) c.*666T>C (n.*666T>C) c.1207T>C (p.Tyr403His) c.955T>C (p.Tyr319His) c.457T>C (p.Tyr153His) c.727T>C (p.Tyr243His) c.1018T>C (p.Tyr340His) c.571T>C (p.Tyr191His) | |
| 5 | g.161294299A>T | CA362173391 | GABRB2 | c.1321T>A (p.Tyr441Asn) c.*666T>A (n.*666T>A) c.1207T>A (p.Tyr403Asn) c.955T>A (p.Tyr319Asn) c.457T>A (p.Tyr153Asn) c.727T>A (p.Tyr243Asn) c.1018T>A (p.Tyr340Asn) c.571T>A (p.Tyr191Asn) | |
| 5 | g.161294300C>A | CA362173392 | GABRB2 | c.1320G>T (p.Gln440His) c.*665G>T (n.*665G>T) c.1206G>T (p.Gln402His) c.954G>T (p.Gln318His) c.456G>T (p.Gln152His) c.726G>T (p.Gln242His) c.1017G>T (p.Gln339His) c.570G>T (p.Gln190His) | |
| 5 | g.161294300C= | CA1595966903 | GABRB2 | c.1320G= (p.Gln440=) c.*665G= (n.*665G=) c.1206G= (p.Gln402=) c.954G= (p.Gln318=) c.456G= (p.Gln152=) c.726G= (p.Gln242=) c.1017G= (p.Gln339=) c.570G= (p.Gln190=) | |
| 5 | g.161294300C>G | CA362173393 | GABRB2 | c.1320G>C (p.Gln440His) c.*665G>C (n.*665G>C) c.1206G>C (p.Gln402His) c.954G>C (p.Gln318His) c.456G>C (p.Gln152His) c.726G>C (p.Gln242His) c.1017G>C (p.Gln339His) c.570G>C (p.Gln190His) | |
| 5 | g.161294300C>T | CA447604750 | GABRB2 | c.1320G>A (p.Gln440=) c.*665G>A (n.*665G>A) c.1206G>A (p.Gln402=) c.954G>A (p.Gln318=) c.456G>A (p.Gln152=) c.726G>A (p.Gln242=) c.1017G>A (p.Gln339=) c.570G>A (p.Gln190=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161294301T>A | CA362173394 | GABRB2 | c.1319A>T (p.Gln440Leu) c.*664A>T (n.*664A>T) c.1205A>T (p.Gln402Leu) c.953A>T (p.Gln318Leu) c.455A>T (p.Gln152Leu) c.725A>T (p.Gln242Leu) c.1016A>T (p.Gln339Leu) c.569A>T (p.Gln190Leu) | |
| 5 | g.161294301T>C | CA362173396 | GABRB2 | c.1319A>G (p.Gln440Arg) c.*664A>G (n.*664A>G) c.1205A>G (p.Gln402Arg) c.953A>G (p.Gln318Arg) c.455A>G (p.Gln152Arg) c.725A>G (p.Gln242Arg) c.1016A>G (p.Gln339Arg) c.569A>G (p.Gln190Arg) | |
| 5 | g.161294301T>G | CA362173395 | GABRB2 | c.1319A>C (p.Gln440Pro) c.*664A>C (n.*664A>C) c.1205A>C (p.Gln402Pro) c.953A>C (p.Gln318Pro) c.455A>C (p.Gln152Pro) c.725A>C (p.Gln242Pro) c.1016A>C (p.Gln339Pro) c.569A>C (p.Gln190Pro) | |
| 5 | g.161294302G>A | CA362173397 | GABRB2 | c.1318C>T (p.Gln440Ter) c.*663C>T (n.*663C>T) c.1204C>T (p.Gln402Ter) c.952C>T (p.Gln318Ter) c.454C>T (p.Gln152Ter) c.724C>T (p.Gln242Ter) c.1015C>T (p.Gln339Ter) c.568C>T (p.Gln190Ter) | |
| 5 | g.161294302G>C | CA362173398 | GABRB2 | c.1318C>G (p.Gln440Glu) c.*663C>G (n.*663C>G) c.1204C>G (p.Gln402Glu) c.952C>G (p.Gln318Glu) c.454C>G (p.Gln152Glu) c.724C>G (p.Gln242Glu) c.1015C>G (p.Gln339Glu) c.568C>G (p.Gln190Glu) | |
| 5 | g.161294302G= | CA1595966905 | GABRB2 | c.1318C= (p.Gln440=) c.*663C= (n.*663C=) c.1204C= (p.Gln402=) c.952C= (p.Gln318=) c.454C= (p.Gln152=) c.724C= (p.Gln242=) c.1015C= (p.Gln339=) c.568C= (p.Gln190=) | |
| 5 | g.161294302G>T | CA362173399 | GABRB2 | c.1318C>A (p.Gln440Lys) c.*663C>A (n.*663C>A) c.1204C>A (p.Gln402Lys) c.952C>A (p.Gln318Lys) c.454C>A (p.Gln152Lys) c.724C>A (p.Gln242Lys) c.1015C>A (p.Gln339Lys) c.568C>A (p.Gln190Lys) | dbSNP gnomAD v4 |
| 5 | g.161294303G>A | CA447604751 | GABRB2 | c.1317C>T (p.Ile439=) c.*662C>T (n.*662C>T) c.1203C>T (p.Ile401=) c.951C>T (p.Ile317=) c.453C>T (p.Ile151=) c.723C>T (p.Ile241=) c.1014C>T (p.Ile338=) c.567C>T (p.Ile189=) | ClinVar |
| 5 | g.161294303G>C | CA362173400 | GABRB2 | c.1317C>G (p.Ile439Met) c.*662C>G (n.*662C>G) c.1203C>G (p.Ile401Met) c.951C>G (p.Ile317Met) c.453C>G (p.Ile151Met) c.723C>G (p.Ile241Met) c.1014C>G (p.Ile338Met) c.567C>G (p.Ile189Met) | |
| 5 | g.161294303G= | CA1595966908 | GABRB2 | c.1317C= (p.Ile439=) c.*662C= (n.*662C=) c.1203C= (p.Ile401=) c.951C= (p.Ile317=) c.453C= (p.Ile151=) c.723C= (p.Ile241=) c.1014C= (p.Ile338=) c.567C= (p.Ile189=) | |
| 5 | g.161294303G>T | CA447604752 | GABRB2 | c.1317C>A (p.Ile439=) c.*662C>A (n.*662C>A) c.1203C>A (p.Ile401=) c.951C>A (p.Ile317=) c.453C>A (p.Ile151=) c.723C>A (p.Ile241=) c.1014C>A (p.Ile338=) c.567C>A (p.Ile189=) | dbSNP |
| 5 | g.161294304A= | CA1595966913 | GABRB2 | c.1316T= (p.Ile439=) c.*661T= (n.*661T=) c.1202T= (p.Ile401=) c.950T= (p.Ile317=) c.452T= (p.Ile151=) c.722T= (p.Ile241=) c.1013T= (p.Ile338=) c.566T= (p.Ile189=) | |
| 5 | g.161294304A>C | CA362173401 | GABRB2 | c.1316T>G (p.Ile439Ser) c.*661T>G (n.*661T>G) c.1202T>G (p.Ile401Ser) c.950T>G (p.Ile317Ser) c.452T>G (p.Ile151Ser) c.722T>G (p.Ile241Ser) c.1013T>G (p.Ile338Ser) c.566T>G (p.Ile189Ser) | |
| 5 | g.161294304A>G | CA3543340 | GABRB2 | c.1316T>C (p.Ile439Thr) c.*661T>C (n.*661T>C) c.1202T>C (p.Ile401Thr) c.950T>C (p.Ile317Thr) c.452T>C (p.Ile151Thr) c.722T>C (p.Ile241Thr) c.1013T>C (p.Ile338Thr) c.566T>C (p.Ile189Thr) | dbSNP ExAC gnomAD v2 |
| 5 | g.161294304A>T | CA362173402 | GABRB2 | c.1316T>A (p.Ile439Asn) c.*661T>A (n.*661T>A) c.1202T>A (p.Ile401Asn) c.950T>A (p.Ile317Asn) c.452T>A (p.Ile151Asn) c.722T>A (p.Ile241Asn) c.1013T>A (p.Ile338Asn) c.566T>A (p.Ile189Asn) | |
| 5 | g.161294305T>A | CA362173403 | GABRB2 | c.1315A>T (p.Ile439Phe) c.*660A>T (n.*660A>T) c.1201A>T (p.Ile401Phe) c.949A>T (p.Ile317Phe) c.451A>T (p.Ile151Phe) c.721A>T (p.Ile241Phe) c.1012A>T (p.Ile338Phe) c.565A>T (p.Ile189Phe) | |
| 5 | g.161294305T>C | CA362173404 | GABRB2 | c.1315A>G (p.Ile439Val) c.*660A>G (n.*660A>G) c.1201A>G (p.Ile401Val) c.949A>G (p.Ile317Val) c.451A>G (p.Ile151Val) c.721A>G (p.Ile241Val) c.1012A>G (p.Ile338Val) c.565A>G (p.Ile189Val) | |
| 5 | g.161294305T>G | CA362173405 | GABRB2 | c.1315A>C (p.Ile439Leu) c.*660A>C (n.*660A>C) c.1201A>C (p.Ile401Leu) c.949A>C (p.Ile317Leu) c.451A>C (p.Ile151Leu) c.721A>C (p.Ile241Leu) c.1012A>C (p.Ile338Leu) c.565A>C (p.Ile189Leu) | |
| 5 | g.161294306G>A | CA447604753 | GABRB2 | c.1314C>T (p.Ser438=) c.*659C>T (n.*659C>T) c.1200C>T (p.Ser400=) c.948C>T (p.Ser316=) c.450C>T (p.Ser150=) c.720C>T (p.Ser240=) c.1011C>T (p.Ser337=) c.564C>T (p.Ser188=) | |
| 5 | g.161294306G>C | CA362173407 | GABRB2 | c.1314C>G (p.Ser438Arg) c.*659C>G (n.*659C>G) c.1200C>G (p.Ser400Arg) c.948C>G (p.Ser316Arg) c.450C>G (p.Ser150Arg) c.720C>G (p.Ser240Arg) c.1011C>G (p.Ser337Arg) c.564C>G (p.Ser188Arg) | gnomAD v4 |
| 5 | g.161294306G>T | CA362173406 | GABRB2 | c.1314C>A (p.Ser438Arg) c.*659C>A (n.*659C>A) c.1200C>A (p.Ser400Arg) c.948C>A (p.Ser316Arg) c.450C>A (p.Ser150Arg) c.720C>A (p.Ser240Arg) c.1011C>A (p.Ser337Arg) c.564C>A (p.Ser188Arg) | |
| 5 | g.161294307C>A | CA362173408 | GABRB2 | c.1313G>T (p.Ser438Ile) c.*658G>T (n.*658G>T) c.1199G>T (p.Ser400Ile) c.947G>T (p.Ser316Ile) c.449G>T (p.Ser150Ile) c.719G>T (p.Ser240Ile) c.1010G>T (p.Ser337Ile) c.563G>T (p.Ser188Ile) | |
| 5 | g.161294307C>G | CA362173409 | GABRB2 | c.1313G>C (p.Ser438Thr) c.*658G>C (n.*658G>C) c.1199G>C (p.Ser400Thr) c.947G>C (p.Ser316Thr) c.449G>C (p.Ser150Thr) c.719G>C (p.Ser240Thr) c.1010G>C (p.Ser337Thr) c.563G>C (p.Ser188Thr) | |
| 5 | g.161294307C>T | CA362173410 | GABRB2 | c.1313G>A (p.Ser438Asn) c.*658G>A (n.*658G>A) c.1199G>A (p.Ser400Asn) c.947G>A (p.Ser316Asn) c.449G>A (p.Ser150Asn) c.719G>A (p.Ser240Asn) c.1010G>A (p.Ser337Asn) c.563G>A (p.Ser188Asn) | gnomAD v4 |
| 5 | g.161294308T>A | CA362173411 | GABRB2 | c.1312A>T (p.Ser438Cys) c.*657A>T (n.*657A>T) c.1198A>T (p.Ser400Cys) c.946A>T (p.Ser316Cys) c.448A>T (p.Ser150Cys) c.718A>T (p.Ser240Cys) c.1009A>T (p.Ser337Cys) c.562A>T (p.Ser188Cys) | |
| 5 | g.161294308T>C | CA362173412 | GABRB2 | c.1312A>G (p.Ser438Gly) c.*657A>G (n.*657A>G) c.1198A>G (p.Ser400Gly) c.946A>G (p.Ser316Gly) c.448A>G (p.Ser150Gly) c.718A>G (p.Ser240Gly) c.1009A>G (p.Ser337Gly) c.562A>G (p.Ser188Gly) | |
| 5 | g.161294308T>G | CA362173413 | GABRB2 | c.1312A>C (p.Ser438Arg) c.*657A>C (n.*657A>C) c.1198A>C (p.Ser400Arg) c.946A>C (p.Ser316Arg) c.448A>C (p.Ser150Arg) c.718A>C (p.Ser240Arg) c.1009A>C (p.Ser337Arg) c.562A>C (p.Ser188Arg) | |
| 5 | g.161294309G>A | CA447604754 | GABRB2 | c.1311C>T (p.Ser437=) c.*656C>T (n.*656C>T) c.1197C>T (p.Ser399=) c.945C>T (p.Ser315=) c.447C>T (p.Ser149=) c.717C>T (p.Ser239=) c.1008C>T (p.Ser336=) c.561C>T (p.Ser187=) | |
| 5 | g.161294309G>C | CA447604755 | GABRB2 | c.1311C>G (p.Ser437=) c.*656C>G (n.*656C>G) c.1197C>G (p.Ser399=) c.945C>G (p.Ser315=) c.447C>G (p.Ser149=) c.717C>G (p.Ser239=) c.1008C>G (p.Ser336=) c.561C>G (p.Ser187=) | |
| 5 | g.161294309G>T | CA447604756 | GABRB2 | c.1311C>A (p.Ser437=) c.*656C>A (n.*656C>A) c.1197C>A (p.Ser399=) c.945C>A (p.Ser315=) c.447C>A (p.Ser149=) c.717C>A (p.Ser239=) c.1008C>A (p.Ser336=) c.561C>A (p.Ser187=) | |
| 5 | g.161294310G>A | CA3543341 | GABRB2 | c.1310C>T (p.Ser437Phe) c.*655C>T (n.*655C>T) c.1196C>T (p.Ser399Phe) c.944C>T (p.Ser315Phe) c.446C>T (p.Ser149Phe) c.716C>T (p.Ser239Phe) c.1007C>T (p.Ser336Phe) c.560C>T (p.Ser187Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161294310G>C | CA362173414 | GABRB2 | c.1310C>G (p.Ser437Cys) c.*655C>G (n.*655C>G) c.1196C>G (p.Ser399Cys) c.944C>G (p.Ser315Cys) c.446C>G (p.Ser149Cys) c.716C>G (p.Ser239Cys) c.1007C>G (p.Ser336Cys) c.560C>G (p.Ser187Cys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161294310G= | CA1595966919 | GABRB2 | c.1310C= (p.Ser437=) c.*655C= (n.*655C=) c.1196C= (p.Ser399=) c.944C= (p.Ser315=) c.446C= (p.Ser149=) c.716C= (p.Ser239=) c.1007C= (p.Ser336=) c.560C= (p.Ser187=) | |
| 5 | g.161294310G>T | CA362173415 | GABRB2 | c.1310C>A (p.Ser437Tyr) c.*655C>A (n.*655C>A) c.1196C>A (p.Ser399Tyr) c.944C>A (p.Ser315Tyr) c.446C>A (p.Ser149Tyr) c.716C>A (p.Ser239Tyr) c.1007C>A (p.Ser336Tyr) c.560C>A (p.Ser187Tyr) | |
| 5 | g.161294311A= | CA1595966923 | GABRB2 | c.1309T= (p.Ser437=) c.*654T= (n.*654T=) c.1195T= (p.Ser399=) c.943T= (p.Ser315=) c.445T= (p.Ser149=) c.715T= (p.Ser239=) c.1006T= (p.Ser336=) c.559T= (p.Ser187=) | |
| 5 | g.161294311A>C | CA362173416 | GABRB2 | c.1309T>G (p.Ser437Ala) c.*654T>G (n.*654T>G) c.1195T>G (p.Ser399Ala) c.943T>G (p.Ser315Ala) c.445T>G (p.Ser149Ala) c.715T>G (p.Ser239Ala) c.1006T>G (p.Ser336Ala) c.559T>G (p.Ser187Ala) | dbSNP |
| 5 | g.161294311A>G | CA362173417 | GABRB2 | c.1309T>C (p.Ser437Pro) c.*654T>C (n.*654T>C) c.1195T>C (p.Ser399Pro) c.943T>C (p.Ser315Pro) c.445T>C (p.Ser149Pro) c.715T>C (p.Ser239Pro) c.1006T>C (p.Ser336Pro) c.559T>C (p.Ser187Pro) | |
| 5 | g.161294311A>T | CA362173418 | GABRB2 | c.1309T>A (p.Ser437Thr) c.*654T>A (n.*654T>A) c.1195T>A (p.Ser399Thr) c.943T>A (p.Ser315Thr) c.445T>A (p.Ser149Thr) c.715T>A (p.Ser239Thr) c.1006T>A (p.Ser336Thr) c.559T>A (p.Ser187Thr) | |
| 5 | g.161294312G>A | CA3543342 | GABRB2 | c.1308C>T (p.Ala436=) c.*653C>T (n.*653C>T) c.1194C>T (p.Ala398=) c.942C>T (p.Ala314=) c.444C>T (p.Ala148=) c.714C>T (p.Ala238=) c.1005C>T (p.Ala335=) c.558C>T (p.Ala186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161294312G>C | CA447604757 | GABRB2 | c.1308C>G (p.Ala436=) c.*653C>G (n.*653C>G) c.1194C>G (p.Ala398=) c.942C>G (p.Ala314=) c.444C>G (p.Ala148=) c.714C>G (p.Ala238=) c.1005C>G (p.Ala335=) c.558C>G (p.Ala186=) | |
| 5 | g.161294312G= | CA1595966930 | GABRB2 | c.1308C= (p.Ala436=) c.*653C= (n.*653C=) c.1194C= (p.Ala398=) c.942C= (p.Ala314=) c.444C= (p.Ala148=) c.714C= (p.Ala238=) c.1005C= (p.Ala335=) c.558C= (p.Ala186=) | |
| 5 | g.161294312G>T | CA447604758 | GABRB2 | c.1308C>A (p.Ala436=) c.*653C>A (n.*653C>A) c.1194C>A (p.Ala398=) c.942C>A (p.Ala314=) c.444C>A (p.Ala148=) c.714C>A (p.Ala238=) c.1005C>A (p.Ala335=) c.558C>A (p.Ala186=) | |
| 5 | g.161294313G>A | CA362173421 | GABRB2 | c.1307C>T (p.Ala436Val) c.*652C>T (n.*652C>T) c.1193C>T (p.Ala398Val) c.941C>T (p.Ala314Val) c.443C>T (p.Ala148Val) c.713C>T (p.Ala238Val) c.1004C>T (p.Ala335Val) c.557C>T (p.Ala186Val) | dbSNP gnomAD v2 |
| 5 | g.161294313G>C | CA362173419 | GABRB2 | c.1307C>G (p.Ala436Gly) c.*652C>G (n.*652C>G) c.1193C>G (p.Ala398Gly) c.941C>G (p.Ala314Gly) c.443C>G (p.Ala148Gly) c.713C>G (p.Ala238Gly) c.1004C>G (p.Ala335Gly) c.557C>G (p.Ala186Gly) | |
| 5 | g.161294313G= | CA1595966935 | GABRB2 | c.1307C= (p.Ala436=) c.*652C= (n.*652C=) c.1193C= (p.Ala398=) c.941C= (p.Ala314=) c.443C= (p.Ala148=) c.713C= (p.Ala238=) c.1004C= (p.Ala335=) c.557C= (p.Ala186=) | |
| 5 | g.161294313G>T | CA362173420 | GABRB2 | c.1307C>A (p.Ala436Asp) c.*652C>A (n.*652C>A) c.1193C>A (p.Ala398Asp) c.941C>A (p.Ala314Asp) c.443C>A (p.Ala148Asp) c.713C>A (p.Ala238Asp) c.1004C>A (p.Ala335Asp) c.557C>A (p.Ala186Asp) | dbSNP gnomAD v4 |
| 5 | g.161294314C>A | CA362173422 | GABRB2 | c.1306G>T (p.Ala436Ser) c.*651G>T (n.*651G>T) c.1192G>T (p.Ala398Ser) c.940G>T (p.Ala314Ser) c.442G>T (p.Ala148Ser) c.712G>T (p.Ala238Ser) c.1003G>T (p.Ala335Ser) c.556G>T (p.Ala186Ser) | |
| 5 | g.161294314C= | CA1595966939 | GABRB2 | c.1306G= (p.Ala436=) c.*651G= (n.*651G=) c.1192G= (p.Ala398=) c.940G= (p.Ala314=) c.442G= (p.Ala148=) c.712G= (p.Ala238=) c.1003G= (p.Ala335=) c.556G= (p.Ala186=) | |
| 5 | g.161294314C>G | CA362173423 | GABRB2 | c.1306G>C (p.Ala436Pro) c.*651G>C (n.*651G>C) c.1192G>C (p.Ala398Pro) c.940G>C (p.Ala314Pro) c.442G>C (p.Ala148Pro) c.712G>C (p.Ala238Pro) c.1003G>C (p.Ala335Pro) c.556G>C (p.Ala186Pro) | |
| 5 | g.161294314C>T | CA362173424 | GABRB2 | c.1306G>A (p.Ala436Thr) c.*651G>A (n.*651G>A) c.1192G>A (p.Ala398Thr) c.940G>A (p.Ala314Thr) c.442G>A (p.Ala148Thr) c.712G>A (p.Ala238Thr) c.1003G>A (p.Ala335Thr) c.556G>A (p.Ala186Thr) | dbSNP gnomAD v4 |
| 5 | g.161294315A= | CA1595966942 | GABRB2 | c.1305T= (p.Asp435=) c.*650T= (n.*650T=) c.1191T= (p.Asp397=) c.939T= (p.Asp313=) c.441T= (p.Asp147=) c.711T= (p.Asp237=) c.1002T= (p.Asp334=) c.555T= (p.Asp185=) | |
| 5 | g.161294315A>C | CA362173425 | GABRB2 | c.1305T>G (p.Asp435Glu) c.*650T>G (n.*650T>G) c.1191T>G (p.Asp397Glu) c.939T>G (p.Asp313Glu) c.441T>G (p.Asp147Glu) c.711T>G (p.Asp237Glu) c.1002T>G (p.Asp334Glu) c.555T>G (p.Asp185Glu) | |
| 5 | g.161294315A>G | CA3543343 | GABRB2 | c.1305T>C (p.Asp435=) c.*650T>C (n.*650T>C) c.1191T>C (p.Asp397=) c.939T>C (p.Asp313=) c.441T>C (p.Asp147=) c.711T>C (p.Asp237=) c.1002T>C (p.Asp334=) c.555T>C (p.Asp185=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161294315A>T | CA362173426 | GABRB2 | c.1305T>A (p.Asp435Glu) c.*650T>A (n.*650T>A) c.1191T>A (p.Asp397Glu) c.939T>A (p.Asp313Glu) c.441T>A (p.Asp147Glu) c.711T>A (p.Asp237Glu) c.1002T>A (p.Asp334Glu) c.555T>A (p.Asp185Glu) | |
| 5 | g.161294316T>A | CA362173427 | GABRB2 | c.1304A>T (p.Asp435Val) c.*649A>T (n.*649A>T) c.1190A>T (p.Asp397Val) c.938A>T (p.Asp313Val) c.440A>T (p.Asp147Val) c.710A>T (p.Asp237Val) c.1001A>T (p.Asp334Val) c.554A>T (p.Asp185Val) | |
| 5 | g.161294316T>C | CA362173428 | GABRB2 | c.1304A>G (p.Asp435Gly) c.*649A>G (n.*649A>G) c.1190A>G (p.Asp397Gly) c.938A>G (p.Asp313Gly) c.440A>G (p.Asp147Gly) c.710A>G (p.Asp237Gly) c.1001A>G (p.Asp334Gly) c.554A>G (p.Asp185Gly) | |
| 5 | g.161294316T>G | CA362173429 | GABRB2 | c.1304A>C (p.Asp435Ala) c.*649A>C (n.*649A>C) c.1190A>C (p.Asp397Ala) c.938A>C (p.Asp313Ala) c.440A>C (p.Asp147Ala) c.710A>C (p.Asp237Ala) c.1001A>C (p.Asp334Ala) c.554A>C (p.Asp185Ala) | |
| 5 | g.161294317C>A | CA362173430 | GABRB2 | c.1303G>T (p.Asp435Tyr) c.*648G>T (n.*648G>T) c.1189G>T (p.Asp397Tyr) c.937G>T (p.Asp313Tyr) c.439G>T (p.Asp147Tyr) c.709G>T (p.Asp237Tyr) c.1000G>T (p.Asp334Tyr) c.553G>T (p.Asp185Tyr) | |
| 5 | g.161294317C= | CA1595966948 | GABRB2 | c.1303G= (p.Asp435=) c.*648G= (n.*648G=) c.1189G= (p.Asp397=) c.937G= (p.Asp313=) c.439G= (p.Asp147=) c.709G= (p.Asp237=) c.1000G= (p.Asp334=) c.553G= (p.Asp185=) | |
| 5 | g.161294317C>G | CA362173431 | GABRB2 | c.1303G>C (p.Asp435His) c.*648G>C (n.*648G>C) c.1189G>C (p.Asp397His) c.937G>C (p.Asp313His) c.439G>C (p.Asp147His) c.709G>C (p.Asp237His) c.1000G>C (p.Asp334His) c.553G>C (p.Asp185His) | |
| 5 | g.161294317C>T | CA362173432 | GABRB2 | c.1303G>A (p.Asp435Asn) c.*648G>A (n.*648G>A) c.1189G>A (p.Asp397Asn) c.937G>A (p.Asp313Asn) c.439G>A (p.Asp147Asn) c.709G>A (p.Asp237Asn) c.1000G>A (p.Asp334Asn) c.553G>A (p.Asp185Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161294318A>C | CA362173434 | GABRB2 | c.1302T>G (p.Tyr434Ter) c.*647T>G (n.*647T>G) c.1188T>G (p.Tyr396Ter) c.936T>G (p.Tyr312Ter) c.438T>G (p.Tyr146Ter) c.708T>G (p.Tyr236Ter) c.999T>G (p.Tyr333Ter) c.552T>G (p.Tyr184Ter) | |
| 5 | g.161294318A>G | CA447604759 | GABRB2 | c.1302T>C (p.Tyr434=) c.*647T>C (n.*647T>C) c.1188T>C (p.Tyr396=) c.936T>C (p.Tyr312=) c.438T>C (p.Tyr146=) c.708T>C (p.Tyr236=) c.999T>C (p.Tyr333=) c.552T>C (p.Tyr184=) | gnomAD v4 |
| 5 | g.161294318A>T | CA362173433 | GABRB2 | c.1302T>A (p.Tyr434Ter) c.*647T>A (n.*647T>A) c.1188T>A (p.Tyr396Ter) c.936T>A (p.Tyr312Ter) c.438T>A (p.Tyr146Ter) c.708T>A (p.Tyr236Ter) c.999T>A (p.Tyr333Ter) c.552T>A (p.Tyr184Ter) | |
| 5 | g.161294319T>A | CA362173435 | GABRB2 | c.1301A>T (p.Tyr434Phe) c.*646A>T (n.*646A>T) c.1187A>T (p.Tyr396Phe) c.935A>T (p.Tyr312Phe) c.437A>T (p.Tyr146Phe) c.707A>T (p.Tyr236Phe) c.998A>T (p.Tyr333Phe) c.551A>T (p.Tyr184Phe) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161294319T>C | CA362173437 | GABRB2 | c.1301A>G (p.Tyr434Cys) c.*646A>G (n.*646A>G) c.1187A>G (p.Tyr396Cys) c.935A>G (p.Tyr312Cys) c.437A>G (p.Tyr146Cys) c.707A>G (p.Tyr236Cys) c.998A>G (p.Tyr333Cys) c.551A>G (p.Tyr184Cys) | gnomAD v4 |
| 5 | g.161294319T>G | CA362173436 | GABRB2 | c.1301A>C (p.Tyr434Ser) c.*646A>C (n.*646A>C) c.1187A>C (p.Tyr396Ser) c.935A>C (p.Tyr312Ser) c.437A>C (p.Tyr146Ser) c.707A>C (p.Tyr236Ser) c.998A>C (p.Tyr333Ser) c.551A>C (p.Tyr184Ser) | |
| 5 | g.161294319T= | CA1595966950 | GABRB2 | c.1301A= (p.Tyr434=) c.*646A= (n.*646A=) c.1187A= (p.Tyr396=) c.935A= (p.Tyr312=) c.437A= (p.Tyr146=) c.707A= (p.Tyr236=) c.998A= (p.Tyr333=) c.551A= (p.Tyr184=) | |
| 5 | g.161294320A>C | CA362173438 | GABRB2 | c.1300T>G (p.Tyr434Asp) c.*645T>G (n.*645T>G) c.1186T>G (p.Tyr396Asp) c.934T>G (p.Tyr312Asp) c.436T>G (p.Tyr146Asp) c.706T>G (p.Tyr236Asp) c.997T>G (p.Tyr333Asp) c.550T>G (p.Tyr184Asp) | |
| 5 | g.161294320A>G | CA362173439 | GABRB2 | c.1300T>C (p.Tyr434His) c.*645T>C (n.*645T>C) c.1186T>C (p.Tyr396His) c.934T>C (p.Tyr312His) c.436T>C (p.Tyr146His) c.706T>C (p.Tyr236His) c.997T>C (p.Tyr333His) c.550T>C (p.Tyr184His) | |
| 5 | g.161294320A>T | CA362173440 | GABRB2 | c.1300T>A (p.Tyr434Asn) c.*645T>A (n.*645T>A) c.1186T>A (p.Tyr396Asn) c.934T>A (p.Tyr312Asn) c.436T>A (p.Tyr146Asn) c.706T>A (p.Tyr236Asn) c.997T>A (p.Tyr333Asn) c.550T>A (p.Tyr184Asn) | |
| 5 | g.161294321G>A | CA447604760 | GABRB2 | c.1299C>T (p.Ala433=) c.*644C>T (n.*644C>T) c.1185C>T (p.Ala395=) c.933C>T (p.Ala311=) c.435C>T (p.Ala145=) c.705C>T (p.Ala235=) c.996C>T (p.Ala332=) c.549C>T (p.Ala183=) | |
| 5 | g.161294321G>C | CA447604761 | GABRB2 | c.1299C>G (p.Ala433=) c.*644C>G (n.*644C>G) c.1185C>G (p.Ala395=) c.933C>G (p.Ala311=) c.435C>G (p.Ala145=) c.705C>G (p.Ala235=) c.996C>G (p.Ala332=) c.549C>G (p.Ala183=) | |
| 5 | g.161294321G= | CA1595966953 | GABRB2 | c.1299C= (p.Ala433=) c.*644C= (n.*644C=) c.1185C= (p.Ala395=) c.933C= (p.Ala311=) c.435C= (p.Ala145=) c.705C= (p.Ala235=) c.996C= (p.Ala332=) c.549C= (p.Ala183=) | |
| 5 | g.161294321G>T | CA447604762 | GABRB2 | c.1299C>A (p.Ala433=) c.*644C>A (n.*644C>A) c.1185C>A (p.Ala395=) c.933C>A (p.Ala311=) c.435C>A (p.Ala145=) c.705C>A (p.Ala235=) c.996C>A (p.Ala332=) c.549C>A (p.Ala183=) | dbSNP |
| 5 | g.161294322G>A | CA3543344 | GABRB2 | c.1298C>T (p.Ala433Val) c.*643C>T (n.*643C>T) c.1184C>T (p.Ala395Val) c.932C>T (p.Ala311Val) c.434C>T (p.Ala145Val) c.704C>T (p.Ala235Val) c.995C>T (p.Ala332Val) c.548C>T (p.Ala183Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161294322G>C | CA362173441 | GABRB2 | c.1298C>G (p.Ala433Gly) c.*643C>G (n.*643C>G) c.1184C>G (p.Ala395Gly) c.932C>G (p.Ala311Gly) c.434C>G (p.Ala145Gly) c.704C>G (p.Ala235Gly) c.995C>G (p.Ala332Gly) c.548C>G (p.Ala183Gly) | |
| 5 | g.161294322G= | CA1595966956 | GABRB2 | c.1298C= (p.Ala433=) c.*643C= (n.*643C=) c.1184C= (p.Ala395=) c.932C= (p.Ala311=) c.434C= (p.Ala145=) c.704C= (p.Ala235=) c.995C= (p.Ala332=) c.548C= (p.Ala183=) | |
| 5 | g.161294322G>T | CA362173442 | GABRB2 | c.1298C>A (p.Ala433Asp) c.*643C>A (n.*643C>A) c.1184C>A (p.Ala395Asp) c.932C>A (p.Ala311Asp) c.434C>A (p.Ala145Asp) c.704C>A (p.Ala235Asp) c.995C>A (p.Ala332Asp) c.548C>A (p.Ala183Asp) | |
| 5 | g.161294323C>A | CA362173443 | GABRB2 | c.1297G>T (p.Ala433Ser) c.*642G>T (n.*642G>T) c.1183G>T (p.Ala395Ser) c.931G>T (p.Ala311Ser) c.433G>T (p.Ala145Ser) c.703G>T (p.Ala235Ser) c.994G>T (p.Ala332Ser) c.547G>T (p.Ala183Ser) | dbSNP |
| 5 | g.161294323C= | CA1595966959 | GABRB2 | c.1297G= (p.Ala433=) c.*642G= (n.*642G=) c.1183G= (p.Ala395=) c.931G= (p.Ala311=) c.433G= (p.Ala145=) c.703G= (p.Ala235=) c.994G= (p.Ala332=) c.547G= (p.Ala183=) | |
| 5 | g.161294323C>G | CA362173444 | GABRB2 | c.1297G>C (p.Ala433Pro) c.*642G>C (n.*642G>C) c.1183G>C (p.Ala395Pro) c.931G>C (p.Ala311Pro) c.433G>C (p.Ala145Pro) c.703G>C (p.Ala235Pro) c.994G>C (p.Ala332Pro) c.547G>C (p.Ala183Pro) | |
| 5 | g.161294323C>T | CA362173445 | GABRB2 | c.1297G>A (p.Ala433Thr) c.*642G>A (n.*642G>A) c.1183G>A (p.Ala395Thr) c.931G>A (p.Ala311Thr) c.433G>A (p.Ala145Thr) c.703G>A (p.Ala235Thr) c.994G>A (p.Ala332Thr) c.547G>A (p.Ala183Thr) | |
| 5 | g.161294324T>A | CA447604763 | GABRB2 | c.1296A>T (p.Leu432=) c.*641A>T (n.*641A>T) c.1182A>T (p.Leu394=) c.930A>T (p.Leu310=) c.432A>T (p.Leu144=) c.702A>T (p.Leu234=) c.993A>T (p.Leu331=) c.546A>T (p.Leu182=) | |
| 5 | g.161294324T>C | CA447604764 | GABRB2 | c.1296A>G (p.Leu432=) c.*641A>G (n.*641A>G) c.1182A>G (p.Leu394=) c.930A>G (p.Leu310=) c.432A>G (p.Leu144=) c.702A>G (p.Leu234=) c.993A>G (p.Leu331=) c.546A>G (p.Leu182=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161294324T>G | CA447604765 | GABRB2 | c.1296A>C (p.Leu432=) c.*641A>C (n.*641A>C) c.1182A>C (p.Leu394=) c.930A>C (p.Leu310=) c.432A>C (p.Leu144=) c.702A>C (p.Leu234=) c.993A>C (p.Leu331=) c.546A>C (p.Leu182=) |