ClinVar Miner

List of variants in gene GLRA1 studied for hereditary hyperekplexia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 486
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HGVS dbSNP gnomAD frequency
NM_000171.4(GLRA1):c.-196C>T rs2071221 0.41437
NM_000171.4(GLRA1):c.1224C>T (p.Phe408=) rs62636580 0.02490
NM_000171.4(GLRA1):c.559+8T>G rs73285947 0.01871
NM_000171.4(GLRA1):c.1041G>A (p.Arg347=) rs75463357 0.01573
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_000171.4(GLRA1):c.390C>T (p.Asn130=) rs112970419 0.00652
NM_000171.4(GLRA1):c.993C>T (p.Ala331=) rs17112272 0.00476
NM_000171.4(GLRA1):c.723G>C (p.Arg241=) rs76872663 0.00430
NM_000171.4(GLRA1):c.57-12C>T rs187424144 0.00212
NM_000171.4(GLRA1):c.117G>C (p.Ser39=) rs149023945 0.00191
NM_000171.4(GLRA1):c.-164C>T rs529450119 0.00169
NM_000171.4(GLRA1):c.1166A>C (p.Asn389Thr) rs138173310 0.00071
NM_000171.4(GLRA1):c.915G>A (p.Val305=) rs150716717 0.00043
NM_000171.4(GLRA1):c.1296G>T (p.Met432Ile) rs141039714 0.00034
NM_000171.4(GLRA1):c.1046G>A (p.Arg349Gln) rs139213838 0.00031
NM_000171.4(GLRA1):c.913-14C>A rs373113309 0.00026
NM_000171.4(GLRA1):c.522C>T (p.Pro174=) rs114046477 0.00025
NM_000171.4(GLRA1):c.1214G>A (p.Arg405Gln) rs199561280 0.00019
NM_000171.4(GLRA1):c.199G>A (p.Val67Met) rs142888296 0.00019
NM_000171.4(GLRA1):c.1031G>A (p.Arg344Gln) rs199618583 0.00018
NM_000171.4(GLRA1):c.297C>T (p.Pro99=) rs369500388 0.00014
NM_000171.4(GLRA1):c.1179C>T (p.Pro393=) rs772443569 0.00010
NM_000171.4(GLRA1):c.89G>A (p.Arg30His) rs199910297 0.00010
NM_000171.4(GLRA1):c.50T>C (p.Phe17Ser) rs376426309 0.00009
NM_000171.4(GLRA1):c.23G>C (p.Arg8Pro) rs74542605 0.00007
NM_000171.4(GLRA1):c.1325G>A (p.Arg442His) rs200130685 0.00006
NM_000171.4(GLRA1):c.324C>T (p.Asp108=) rs762489154 0.00006
NM_000171.4(GLRA1):c.433T>C (p.Leu145=) rs371496582 0.00006
NM_000171.4(GLRA1):c.636G>A (p.Leu212=) rs377524694 0.00006
NM_000171.4(GLRA1):c.88C>A (p.Arg30Ser) rs369873008 0.00006
NM_000171.4(GLRA1):c.1040G>C (p.Arg347Thr) rs147156518 0.00005
NM_000171.4(GLRA1):c.1174A>G (p.Asn392Asp) rs775599403 0.00005
NM_000171.4(GLRA1):c.448C>T (p.Arg150Trp) rs374834686 0.00005
NM_000171.4(GLRA1):c.657A>G (p.Glu219=) rs146034962 0.00005
NM_000171.4(GLRA1):c.1022A>G (p.Glu341Gly) rs77451630 0.00004
NM_000171.4(GLRA1):c.1192T>C (p.Ser398Pro) rs1210847781 0.00004
NM_000171.4(GLRA1):c.1295T>C (p.Met432Thr) rs1284734503 0.00004
NM_000171.4(GLRA1):c.1331A>G (p.Glu444Gly) rs752781486 0.00004
NM_000171.4(GLRA1):c.411T>C (p.His137=) rs1455947088 0.00004
NM_000171.4(GLRA1):c.449G>A (p.Arg150Gln) rs561848502 0.00004
NM_000171.4(GLRA1):c.732G>A (p.Leu244=) rs112560122 0.00004
NM_000171.4(GLRA1):c.858C>T (p.Thr286=) rs781137100 0.00004
NM_000171.4(GLRA1):c.1032A>G (p.Arg344=) rs78363193 0.00003
NM_000171.4(GLRA1):c.1045C>A (p.Arg349=) rs752071816 0.00003
NM_000171.4(GLRA1):c.1058A>G (p.Lys353Arg) rs764794082 0.00003
NM_000171.4(GLRA1):c.1072G>A (p.Gly358Arg) rs774175391 0.00003
NM_000171.4(GLRA1):c.1199C>T (p.Ser400Phe) rs780710712 0.00003
NM_000171.4(GLRA1):c.1210A>T (p.Met404Leu) rs151276682 0.00003
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His) rs281864919 0.00003
NM_000171.4(GLRA1):c.1274T>C (p.Met425Thr) rs747623314 0.00003
NM_000171.4(GLRA1):c.198C>T (p.Asn66=) rs200606738 0.00003
NM_000171.4(GLRA1):c.476+8C>T rs776829161 0.00003
NM_000171.4(GLRA1):c.888C>T (p.Ser296=) rs192326771 0.00003
NM_000171.4(GLRA1):c.93C>T (p.Ser31=) rs376610236 0.00003
NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr) rs779993828 0.00003
NM_000171.4(GLRA1):c.981A>G (p.Leu327=) rs769499149 0.00003
NM_000171.4(GLRA1):c.1010G>A (p.Arg337Gln) rs1169119477 0.00002
NM_000171.4(GLRA1):c.1030C>T (p.Arg344Ter) rs281864913 0.00002
NM_000171.4(GLRA1):c.1185T>C (p.Pro395=) rs368049933 0.00002
NM_000171.4(GLRA1):c.1319T>C (p.Ile440Thr) rs555222589 0.00002
NM_000171.4(GLRA1):c.1326T>C (p.Arg442=) rs536795343 0.00002
NM_000171.4(GLRA1):c.150C>T (p.Ser50=) rs1402153449 0.00002
NM_000171.4(GLRA1):c.253-7G>A rs940690636 0.00002
NM_000171.4(GLRA1):c.391G>A (p.Glu131Lys) rs779234204 0.00002
NM_000171.4(GLRA1):c.477-5C>T rs560187719 0.00002
NM_000171.4(GLRA1):c.57C>T (p.Ser19=) rs1003664889 0.00002
NM_000171.4(GLRA1):c.609C>T (p.Ala203=) rs773529731 0.00002
NM_000171.4(GLRA1):c.622G>A (p.Asp208Asn) rs763939987 0.00002
NM_000171.4(GLRA1):c.656A>G (p.Glu219Gly) rs773542781 0.00002
NM_000171.4(GLRA1):c.696A>G (p.Thr232=) rs374982085 0.00002
NM_000171.4(GLRA1):c.722G>A (p.Arg241Gln) rs375819582 0.00002
NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp) rs751659671 0.00002
NM_000171.4(GLRA1):c.-130G>A rs886060282 0.00001
NM_000171.4(GLRA1):c.-271G>C rs886060283 0.00001
NM_000171.4(GLRA1):c.1023G>A (p.Glu341=) rs1310367742 0.00001
NM_000171.4(GLRA1):c.1069G>A (p.Ala357Thr) rs1379750212 0.00001
NM_000171.4(GLRA1):c.1080C>T (p.Gly360=) rs1763178853 0.00001
NM_000171.4(GLRA1):c.1081C>T (p.Arg361Cys) rs748241173 0.00001
NM_000171.4(GLRA1):c.1082G>A (p.Arg361His) rs147471585 0.00001
NM_000171.4(GLRA1):c.1093T>G (p.Ser365Ala) rs146911085 0.00001
NM_000171.4(GLRA1):c.1097C>A (p.Ala366Asp) rs372342365 0.00001
NM_000171.4(GLRA1):c.10T>G (p.Phe4Val) rs753680915 0.00001
NM_000171.4(GLRA1):c.1101T>C (p.Tyr367=) rs758811460 0.00001
NM_000171.4(GLRA1):c.1110C>T (p.Gly370=) rs779431245 0.00001
NM_000171.4(GLRA1):c.1152C>T (p.Gly384=) rs570002981 0.00001
NM_000171.4(GLRA1):c.1153G>A (p.Ala385Thr) rs761971337 0.00001
NM_000171.4(GLRA1):c.1154C>A (p.Ala385Asp) rs1581592590 0.00001
NM_000171.4(GLRA1):c.1158C>A (p.Asn386Lys) rs776916010 0.00001
NM_000171.4(GLRA1):c.1161C>G (p.Asn387Lys) rs768970494 0.00001
NM_000171.4(GLRA1):c.116C>T (p.Ser39Leu) rs766445967 0.00001
NM_000171.4(GLRA1):c.1213C>T (p.Arg405Ter) rs375152105 0.00001
NM_000171.4(GLRA1):c.1241A>T (p.Lys414Met) rs775717500 0.00001
NM_000171.4(GLRA1):c.1253T>C (p.Ile418Thr) rs1239753439 0.00001
NM_000171.4(GLRA1):c.1261A>G (p.Ile421Val) rs778280697 0.00001
NM_000171.4(GLRA1):c.1292A>G (p.Asn431Ser) rs780883216 0.00001
NM_000171.4(GLRA1):c.1315A>C (p.Lys439Gln) rs1050028851 0.00001
NM_000171.4(GLRA1):c.1335C>T (p.Asp445=) rs767779482 0.00001
NM_000171.4(GLRA1):c.1339C>A (p.His447Asn) rs146481873 0.00001
NM_000171.4(GLRA1):c.1341C>T (p.His447=) rs773707878 0.00001
NM_000171.4(GLRA1):c.143G>A (p.Arg48Lys) rs151029950 0.00001
NM_000171.4(GLRA1):c.151G>A (p.Gly51Arg) rs1408253842 0.00001
NM_000171.4(GLRA1):c.15T>A (p.Asn5Lys) rs373114110 0.00001
NM_000171.4(GLRA1):c.165G>C (p.Arg55Ser) rs1396622824 0.00001
NM_000171.4(GLRA1):c.184+2T>C rs1754097992 0.00001
NM_000171.4(GLRA1):c.185-9G>A rs371382193 0.00001
NM_000171.4(GLRA1):c.22C>T (p.Arg8Ter) rs1296531416 0.00001
NM_000171.4(GLRA1):c.284A>C (p.Gln95Pro) rs1131691474 0.00001
NM_000171.4(GLRA1):c.292G>A (p.Asp98Asn) rs760390019 0.00001
NM_000171.4(GLRA1):c.299G>A (p.Arg100His) rs281864914 0.00001
NM_000171.4(GLRA1):c.300C>T (p.Arg100=) rs1172371698 0.00001
NM_000171.4(GLRA1):c.306C>T (p.Ala102=) rs774085354 0.00001
NM_000171.4(GLRA1):c.31C>A (p.Leu11Ile) rs750512870 0.00001
NM_000171.4(GLRA1):c.325G>A (p.Asp109Asn) rs1310413185 0.00001
NM_000171.4(GLRA1):c.342C>A (p.Asp114Glu) rs1224142581 0.00001
NM_000171.4(GLRA1):c.347C>A (p.Ser116Tyr) rs775032574 0.00001
NM_000171.4(GLRA1):c.378G>A (p.Leu126=) rs747286269 0.00001
NM_000171.4(GLRA1):c.378del (p.Phe127fs) rs750107200 0.00001
NM_000171.4(GLRA1):c.385G>A (p.Ala129Thr) rs867853750 0.00001
NM_000171.4(GLRA1):c.42C>A (p.Thr14=) rs572343839 0.00001
NM_000171.4(GLRA1):c.44T>C (p.Ile15Thr) rs769117123 0.00001
NM_000171.4(GLRA1):c.473T>C (p.Ile158Thr) rs371331129 0.00001
NM_000171.4(GLRA1):c.476+5G>T rs766221222 0.00001
NM_000171.4(GLRA1):c.480C>T (p.Ile160=) rs1413107798 0.00001
NM_000171.4(GLRA1):c.483C>G (p.Thr161=) rs773246071 0.00001
NM_000171.4(GLRA1):c.517T>C (p.Phe173Leu) rs746144414 0.00001
NM_000171.4(GLRA1):c.520C>T (p.Pro174Ser) rs774560550 0.00001
NM_000171.4(GLRA1):c.523A>G (p.Met175Val) rs121918414 0.00001
NM_000171.4(GLRA1):c.525G>A (p.Met175Ile) rs1341348939 0.00001
NM_000171.4(GLRA1):c.536C>T (p.Thr179Ile) rs372452903 0.00001
NM_000171.4(GLRA1):c.537A>C (p.Thr179=) rs770339430 0.00001
NM_000171.4(GLRA1):c.542T>A (p.Ile181Asn) rs780795063 0.00001
NM_000171.4(GLRA1):c.559+12G>A rs779606455 0.00001
NM_000171.4(GLRA1):c.559+5G>A rs1186139441 0.00001
NM_000171.4(GLRA1):c.56+2T>C rs778631570 0.00001
NM_000171.4(GLRA1):c.56+5G>A rs373393975 0.00001
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met) rs781570584 0.00001
NM_000171.4(GLRA1):c.570G>A (p.Thr190=) rs768174352 0.00001
NM_000171.4(GLRA1):c.604G>C (p.Gly202Arg) rs1295407167 0.00001
NM_000171.4(GLRA1):c.605G>A (p.Gly202Glu) rs750242262 0.00001
NM_000171.4(GLRA1):c.664G>A (p.Asp222Asn) rs1446144797 0.00001
NM_000171.4(GLRA1):c.697+9A>C rs886060280 0.00001
NM_000171.4(GLRA1):c.698-9T>C rs1166224628 0.00001
NM_000171.4(GLRA1):c.721C>T (p.Arg241Trp) rs776919102 0.00001
NM_000171.4(GLRA1):c.747T>C (p.Gly249=) rs1441470047 0.00001
NM_000171.4(GLRA1):c.836C>T (p.Ala279Val) rs900189503 0.00001
NM_000171.4(GLRA1):c.839G>A (p.Arg280His) rs281864918 0.00001
NM_000171.4(GLRA1):c.872T>C (p.Met291Thr) rs1314623901 0.00001
NM_000171.4(GLRA1):c.889G>A (p.Gly297Ser) rs1561556166 0.00001
NM_000171.4(GLRA1):c.895C>T (p.Arg299Ter) rs757488419 0.00001
NM_000171.4(GLRA1):c.913-12C>A rs1420894866 0.00001
NM_000171.4(GLRA1):c.913-8C>A rs768129276 0.00001
NM_000171.4(GLRA1):c.92C>T (p.Ser31Phe) rs200171902 0.00001
NM_000171.4(GLRA1):c.958C>A (p.Leu320Ile) rs1235266841 0.00001
NM_000171.4(GLRA1):c.971C>A (p.Ser324Ter) rs121918418 0.00001
NM_000171.4(GLRA1):c.972A>G (p.Ser324=) rs762554462 0.00001
NM_000171.4(GLRA1):c.994G>A (p.Val332Ile) rs1468001309 0.00001
NC_000005.10:g.(?_151924474)_(151924569_?)del
NC_000005.10:g.151856298CA[3]
NC_000005.9:g.(?_151208462)_(151208648_?)del
NC_000005.9:g.(?_151230931)_(151304110_?)del
NC_000005.9:g.(?_151235842)_(151272019_?)del
NC_000005.9:g.(?_151239326)_(151239589_?)del
NC_000005.9:g.(?_151266262)_(151266369_?)del
NC_000005.9:g.(?_151266262)_(151304110_?)dup
NC_000005.9:g.(?_151271852)_(151304110_?)dup
NC_000005.9:g.(?_151304035)_(151304110_?)del
NC_000005.9:g.(?_151304045)_(151304110_?)dup
NM_000171.3(GLRA1):c.[1030C>T];[288G>T]
NM_000171.3(GLRA1):c.[1259G>A];[839G>A]
NM_000171.3(GLRA1):c.[298delC];[523A>G]
NM_000171.4(GLRA1):c.-80G>A rs886060281
NM_000171.4(GLRA1):c.-81C>G rs1754966368
NM_000171.4(GLRA1):c.1001T>C (p.Phe334Ser)
NM_000171.4(GLRA1):c.1016A>G (p.His339Arg)
NM_000171.4(GLRA1):c.101A>G (p.Lys34Arg) rs1254833783
NM_000171.4(GLRA1):c.1025T>C (p.Leu342Pro)
NM_000171.4(GLRA1):c.1028T>C (p.Leu343Pro) rs148221542
NM_000171.4(GLRA1):c.103C>G (p.Pro35Ala)
NM_000171.4(GLRA1):c.1045C>T (p.Arg349Trp) rs752071816
NM_000171.4(GLRA1):c.1046G>T (p.Arg349Leu) rs139213838
NM_000171.4(GLRA1):c.104C>T (p.Pro35Leu)
NM_000171.4(GLRA1):c.1054C>G (p.His352Asp)
NM_000171.4(GLRA1):c.1059+12G>T
NM_000171.4(GLRA1):c.1059+14T>C rs1474660982
NM_000171.4(GLRA1):c.1059+15_1059+18dup
NM_000171.4(GLRA1):c.1059+18T>G rs763830285
NM_000171.4(GLRA1):c.1059+19G>A
NM_000171.4(GLRA1):c.1059+1G>A
NM_000171.4(GLRA1):c.1059+7C>A
NM_000171.4(GLRA1):c.1059+8T>G
NM_000171.4(GLRA1):c.1059G>C (p.Lys353Asn)
NM_000171.4(GLRA1):c.1060-10T>A rs2113277422
NM_000171.4(GLRA1):c.1060-20C>T
NM_000171.4(GLRA1):c.1060-4C>A rs1581592732
NM_000171.4(GLRA1):c.1060-7A>C
NM_000171.4(GLRA1):c.1064A>G (p.Asp355Gly) rs1763180019
NM_000171.4(GLRA1):c.106A>G (p.Met36Val) rs1754101255
NM_000171.4(GLRA1):c.1073G>A (p.Gly358Glu)
NM_000171.4(GLRA1):c.1074A>G (p.Gly358=)
NM_000171.4(GLRA1):c.1079G>C (p.Gly360Ala)
NM_000171.4(GLRA1):c.1101T>A (p.Tyr367Ter) rs758811460
NM_000171.4(GLRA1):c.1115C>A (p.Ala372Asp)
NM_000171.4(GLRA1):c.1124A>T (p.Gln375Leu)
NM_000171.4(GLRA1):c.112C>A (p.Pro38Thr)
NM_000171.4(GLRA1):c.1132G>T (p.Asp378Tyr)
NM_000171.4(GLRA1):c.1134T>C (p.Asp378=) rs763726024
NM_000171.4(GLRA1):c.1136G>A (p.Gly379Asp) rs2113277098
NM_000171.4(GLRA1):c.1139_1162del (p.Ile380_Asn387del)
NM_000171.4(GLRA1):c.1140C>G (p.Ile380Met)
NM_000171.4(GLRA1):c.1142C>T (p.Ser381Leu) rs752407825
NM_000171.4(GLRA1):c.1149G>A (p.Lys383=)
NM_000171.4(GLRA1):c.1154C>T (p.Ala385Val)
NM_000171.4(GLRA1):c.1157ACA[1] (p.Asn387del)
NM_000171.4(GLRA1):c.1163G>C (p.Ser388Thr) rs1312246907
NM_000171.4(GLRA1):c.1174A>T (p.Asn392Tyr) rs775599403
NM_000171.4(GLRA1):c.1176C>T (p.Asn392=)
NM_000171.4(GLRA1):c.1179C>A (p.Pro393=) rs772443569
NM_000171.4(GLRA1):c.117G>A (p.Ser39=) rs149023945
NM_000171.4(GLRA1):c.1180C>T (p.Pro394Ser) rs779337812
NM_000171.4(GLRA1):c.1181C>G (p.Pro394Arg) rs62636581
NM_000171.4(GLRA1):c.1181C>T (p.Pro394Leu) rs62636581
NM_000171.4(GLRA1):c.1204G>A (p.Glu402Lys) rs1471630110
NM_000171.4(GLRA1):c.1204GAG[1] (p.Glu403del) rs767780037
NM_000171.4(GLRA1):c.1207G>C (p.Glu403Gln)
NM_000171.4(GLRA1):c.1212G>A (p.Met404Ile)
NM_000171.4(GLRA1):c.1214G>T (p.Arg405Leu) rs199561280
NM_000171.4(GLRA1):c.1218A>C (p.Lys406Asn)
NM_000171.4(GLRA1):c.1226T>A (p.Ile409Asn)
NM_000171.4(GLRA1):c.1229A>C (p.Gln410Pro)
NM_000171.4(GLRA1):c.1234G>A (p.Ala412Thr) rs1763171970
NM_000171.4(GLRA1):c.1237A>G (p.Lys413Glu) rs2113276596
NM_000171.4(GLRA1):c.1239G>A (p.Lys413=) rs2113276577
NM_000171.4(GLRA1):c.1240A>C (p.Lys414Gln)
NM_000171.4(GLRA1):c.1245C>T (p.Ile415=) rs759936512
NM_000171.4(GLRA1):c.1246G>A (p.Asp416Asn) rs1181626947
NM_000171.4(GLRA1):c.1248C>G (p.Asp416Glu)
NM_000171.4(GLRA1):c.1258C>T (p.Arg420Cys)
NM_000171.4(GLRA1):c.1262T>C (p.Ile421Thr)
NM_000171.4(GLRA1):c.1264G>A (p.Gly422Ser)
NM_000171.4(GLRA1):c.1265G>A (p.Gly422Asp) rs2113276466
NM_000171.4(GLRA1):c.126G>A (p.Leu42=) rs753072382
NM_000171.4(GLRA1):c.1273A>G (p.Met425Val)
NM_000171.4(GLRA1):c.1284C>T (p.Leu428=) rs1581592341
NM_000171.4(GLRA1):c.1286T>C (p.Ile429Thr) rs2113276406
NM_000171.4(GLRA1):c.1293C>T (p.Asn431=) rs1763170405
NM_000171.4(GLRA1):c.129T>G (p.Asp43Glu)
NM_000171.4(GLRA1):c.1300T>C (p.Tyr434His)
NM_000171.4(GLRA1):c.1313A>G (p.Tyr438Cys)
NM_000171.4(GLRA1):c.1316A>G (p.Lys439Arg)
NM_000171.4(GLRA1):c.1321G>A (p.Val441Ile)
NM_000171.4(GLRA1):c.1324C>T (p.Arg442Cys) rs750346568
NM_000171.4(GLRA1):c.1333G>T (p.Asp445Tyr) rs886060279
NM_000171.4(GLRA1):c.1336G>A (p.Val446Ile)
NM_000171.4(GLRA1):c.1337T>C (p.Val446Ala)
NM_000171.4(GLRA1):c.1341C>A (p.His447Gln)
NM_000171.4(GLRA1):c.137T>A (p.Met46Lys)
NM_000171.4(GLRA1):c.139G>A (p.Gly47Arg) rs759998394
NM_000171.4(GLRA1):c.147C>G (p.Thr49=) rs1754099297
NM_000171.4(GLRA1):c.147del (p.Ser50fs)
NM_000171.4(GLRA1):c.14A>G (p.Asn5Ser)
NM_000171.4(GLRA1):c.162C>T (p.Ala54=)
NM_000171.4(GLRA1):c.164G>C (p.Arg55Thr) rs1561574547
NM_000171.4(GLRA1):c.184+11T>G
NM_000171.4(GLRA1):c.184+12A>T
NM_000171.4(GLRA1):c.184+14T>G
NM_000171.4(GLRA1):c.184+19C>A
NM_000171.4(GLRA1):c.184+1G>A
NM_000171.4(GLRA1):c.184+4G>A
NM_000171.4(GLRA1):c.184+6G>A rs1754097765
NM_000171.4(GLRA1):c.184+6G>C
NM_000171.4(GLRA1):c.185-15T>C
NM_000171.4(GLRA1):c.185-3C>T
NM_000171.4(GLRA1):c.185-7T>C
NM_000171.4(GLRA1):c.186dup (p.Pro63fs) rs1753918029
NM_000171.4(GLRA1):c.18T>A (p.Thr6=)
NM_000171.4(GLRA1):c.191C>T (p.Pro64Leu) rs2113407376
NM_000171.4(GLRA1):c.194T>G (p.Val65Gly) rs2113407361
NM_000171.4(GLRA1):c.198C>G (p.Asn66Lys)
NM_000171.4(GLRA1):c.1A>G (p.Met1Val) rs1754962750
NM_000171.4(GLRA1):c.204C>T (p.Ser68=)
NM_000171.4(GLRA1):c.206G>A (p.Cys69Tyr) rs1581645142
NM_000171.4(GLRA1):c.229G>T (p.Gly77Cys) rs761410250
NM_000171.4(GLRA1):c.236T>C (p.Ile79Thr) rs1554085896
NM_000171.4(GLRA1):c.252+17A>G
NM_000171.4(GLRA1):c.252+2T>C rs1554085893
NM_000171.4(GLRA1):c.252+3G>A rs1581645103
NM_000171.4(GLRA1):c.253-14T>C rs780604003
NM_000171.4(GLRA1):c.253-18_253-16del rs376416020
NM_000171.4(GLRA1):c.253-8G>C
NM_000171.4(GLRA1):c.253-9T>C
NM_000171.4(GLRA1):c.258_260del (p.Tyr86_Arg87delinsTer)
NM_000171.4(GLRA1):c.266A>G (p.Asn89Ser) rs2113359473
NM_000171.4(GLRA1):c.274C>T (p.Leu92=)
NM_000171.4(GLRA1):c.277C>A (p.Arg93=) rs199547699
NM_000171.4(GLRA1):c.277C>T (p.Arg93Trp) rs199547699
NM_000171.4(GLRA1):c.278G>A (p.Arg93Gln)
NM_000171.4(GLRA1):c.278G>T (p.Arg93Leu)
NM_000171.4(GLRA1):c.286T>C (p.Trp96Arg) rs2113359417
NM_000171.4(GLRA1):c.291C>T (p.Asn97=)
NM_000171.4(GLRA1):c.298C>A (p.Arg100Ser)
NM_000171.4(GLRA1):c.298C>T (p.Arg100Cys)
NM_000171.4(GLRA1):c.298del (p.Arg100fs) rs281864915
NM_000171.4(GLRA1):c.2T>C (p.Met1Thr)
NM_000171.4(GLRA1):c.2T>G (p.Met1Arg)
NM_000171.4(GLRA1):c.30C>T (p.Tyr10=) rs1297899786
NM_000171.4(GLRA1):c.311A>G (p.Asn104Ser)
NM_000171.4(GLRA1):c.329C>G (p.Ser110Cys)
NM_000171.4(GLRA1):c.335A>C (p.Asp112Ala)
NM_000171.4(GLRA1):c.337C>G (p.Leu113Val)
NM_000171.4(GLRA1):c.33T>C (p.Leu11=) rs1754960207
NM_000171.4(GLRA1):c.346T>A (p.Ser116Thr) rs932099226
NM_000171.4(GLRA1):c.346T>C (p.Ser116Pro) rs932099226
NM_000171.4(GLRA1):c.35G>C (p.Trp12Ser)
NM_000171.4(GLRA1):c.360C>A (p.Ser120=)
NM_000171.4(GLRA1):c.365G>A (p.Trp122Ter)
NM_000171.4(GLRA1):c.36G>C (p.Trp12Cys) rs1064797316
NM_000171.4(GLRA1):c.376del (p.Leu126fs) rs2113359152
NM_000171.4(GLRA1):c.378G>T (p.Leu126=) rs747286269
NM_000171.4(GLRA1):c.381dup (p.Phe128fs)
NM_000171.4(GLRA1):c.39G>A (p.Glu13=) rs141704405
NM_000171.4(GLRA1):c.39G>C (p.Glu13Asp) rs141704405
NM_000171.4(GLRA1):c.3G>T (p.Met1Ile) rs1174467547
NM_000171.4(GLRA1):c.403del (p.His135fs) rs1581623798
NM_000171.4(GLRA1):c.405C>A (p.His135Gln)
NM_000171.4(GLRA1):c.40A>G (p.Thr14Ala)
NM_000171.4(GLRA1):c.415del (p.Ile139fs)
NM_000171.4(GLRA1):c.41C>T (p.Thr14Ile)
NM_000171.4(GLRA1):c.423A>G (p.Thr141=) rs1425567448
NM_000171.4(GLRA1):c.429C>T (p.Asn143=) rs1253160169
NM_000171.4(GLRA1):c.42C>T (p.Thr14=)
NM_000171.4(GLRA1):c.435G>A (p.Leu145=)
NM_000171.4(GLRA1):c.436C>A (p.Leu146Ile) rs2113358962
NM_000171.4(GLRA1):c.442A>G (p.Ile148Val)
NM_000171.4(GLRA1):c.449G>C (p.Arg150Pro) rs561848502
NM_000171.4(GLRA1):c.459T>C (p.Asn153=) rs575951950
NM_000171.4(GLRA1):c.45T>C (p.Ile15=) rs760969146
NM_000171.4(GLRA1):c.461T>A (p.Val154Asp)
NM_000171.4(GLRA1):c.468C>T (p.Tyr156=) rs2113358884
NM_000171.4(GLRA1):c.469A>G (p.Ser157Gly) rs1561560166
NM_000171.4(GLRA1):c.471C>T (p.Ser157=) rs2113358874
NM_000171.4(GLRA1):c.476+10G>C rs557783325
NM_000171.4(GLRA1):c.476+20A>G
NM_000171.4(GLRA1):c.476+6T>A
NM_000171.4(GLRA1):c.477-13C>T
NM_000171.4(GLRA1):c.477-14C>T
NM_000171.4(GLRA1):c.477-15C>T
NM_000171.4(GLRA1):c.477-1G>A rs762864856
NM_000171.4(GLRA1):c.47T>C (p.Val16Ala)
NM_000171.4(GLRA1):c.490C>T (p.Leu164=)
NM_000171.4(GLRA1):c.49T>C (p.Phe17Leu) rs1754959178
NM_000171.4(GLRA1):c.49TTC[1] (p.Phe18del)
NM_000171.4(GLRA1):c.4T>C (p.Tyr2His) rs778643926
NM_000171.4(GLRA1):c.500C>T (p.Pro167Leu) rs2113352246
NM_000171.4(GLRA1):c.502A>G (p.Met168Val)
NM_000171.4(GLRA1):c.503T>G (p.Met168Arg)
NM_000171.4(GLRA1):c.51C>T (p.Phe17=) rs2113471944
NM_000171.4(GLRA1):c.528T>A (p.Asp176Glu)
NM_000171.4(GLRA1):c.536C>A (p.Thr179Lys)
NM_000171.4(GLRA1):c.537dup (p.Cys180fs)
NM_000171.4(GLRA1):c.543C>G (p.Ile181Met) rs1753041280
NM_000171.4(GLRA1):c.549A>C (p.Gln183His) rs1554083905
NM_000171.4(GLRA1):c.54C>T (p.Phe18=) rs1754958953
NM_000171.4(GLRA1):c.550C>G (p.Leu184Val) rs2113352064
NM_000171.4(GLRA1):c.559+16G>C
NM_000171.4(GLRA1):c.559+18G>C
NM_000171.4(GLRA1):c.559+19T>C
NM_000171.4(GLRA1):c.559+1G>A rs1581620729
NM_000171.4(GLRA1):c.559+6T>A
NM_000171.4(GLRA1):c.560-15C>T
NM_000171.4(GLRA1):c.560-16T>C
NM_000171.4(GLRA1):c.560-1G>C rs748908505
NM_000171.4(GLRA1):c.560-4C>G rs2113350145
NM_000171.4(GLRA1):c.560-8C>T rs1391710473
NM_000171.4(GLRA1):c.560-9C>G rs1303387683
NM_000171.4(GLRA1):c.560-9C>T
NM_000171.4(GLRA1):c.564A>G (p.Gly188=)
NM_000171.4(GLRA1):c.569C>G (p.Thr190Arg)
NM_000171.4(GLRA1):c.57-14C>G
NM_000171.4(GLRA1):c.57-15T>C
NM_000171.4(GLRA1):c.57-16CT[2]
NM_000171.4(GLRA1):c.572T>C (p.Met191Thr)
NM_000171.4(GLRA1):c.578A>T (p.Asp193Val)
NM_000171.4(GLRA1):c.585C>T (p.Ile195=) rs370809444
NM_000171.4(GLRA1):c.589G>A (p.Glu197Lys)
NM_000171.4(GLRA1):c.593G>C (p.Trp198Ser) rs202247813
NM_000171.4(GLRA1):c.5A>G (p.Tyr2Cys)
NM_000171.4(GLRA1):c.600A>T (p.Glu200Asp) rs1192986592
NM_000171.4(GLRA1):c.608C>A (p.Ala203Asp) rs980887652
NM_000171.4(GLRA1):c.610G>A (p.Val204Met) rs1554083817
NM_000171.4(GLRA1):c.613C>T (p.Gln205Ter)
NM_000171.4(GLRA1):c.617T>G (p.Val206Gly) rs1581619756
NM_000171.4(GLRA1):c.621A>C (p.Ala207=)
NM_000171.4(GLRA1):c.624T>C (p.Asp208=)
NM_000171.4(GLRA1):c.631A>C (p.Thr211Pro)
NM_000171.4(GLRA1):c.634_635del (p.Leu212fs) rs765708068
NM_000171.4(GLRA1):c.65_79del (p.Ala22_Ala26del)
NM_000171.4(GLRA1):c.675C>A (p.Tyr225Ter) rs2113349880
NM_000171.4(GLRA1):c.680_681delinsAA (p.Thr227Lys)
NM_000171.4(GLRA1):c.681C>A (p.Thr227=)
NM_000171.4(GLRA1):c.68C>T (p.Ser23Phe)
NM_000171.4(GLRA1):c.690C>A (p.Tyr230Ter) rs121918415
NM_000171.4(GLRA1):c.690C>T (p.Tyr230=)
NM_000171.4(GLRA1):c.697+17C>T
NM_000171.4(GLRA1):c.697+1G>A rs1753002738
NM_000171.4(GLRA1):c.697+2T>A
NM_000171.4(GLRA1):c.697+8C>A rs1753002579
NM_000171.4(GLRA1):c.698-2del rs1752914673
NM_000171.4(GLRA1):c.699T>A (p.Gly233=)
NM_000171.4(GLRA1):c.699T>C (p.Gly233=)
NM_000171.4(GLRA1):c.708del (p.Cys237fs)
NM_000171.4(GLRA1):c.711C>G (p.Cys237Trp)
NM_000171.4(GLRA1):c.719C>T (p.Ala240Val)
NM_000171.4(GLRA1):c.720C>T (p.Ala240=)
NM_000171.4(GLRA1):c.725del (p.Phe242fs)
NM_000171.4(GLRA1):c.737G>A (p.Arg246Gln) rs281864916
NM_000171.4(GLRA1):c.753C>T (p.Tyr251=) rs770544327
NM_000171.4(GLRA1):c.767A>G (p.Tyr256Cys)
NM_000171.4(GLRA1):c.770T>C (p.Ile257Thr) rs1752910323
NM_000171.4(GLRA1):c.772C>T (p.Pro258Ser)
NM_000171.4(GLRA1):c.774C>G (p.Pro258=)
NM_000171.4(GLRA1):c.777C>G (p.Ser259Arg) rs121918417
NM_000171.4(GLRA1):c.778C>A (p.Leu260Met) rs2113343595
NM_000171.4(GLRA1):c.786T>C (p.Ile262=) rs2113343560
NM_000171.4(GLRA1):c.793C>T (p.Leu265Phe) rs1554083597
NM_000171.4(GLRA1):c.798A>C (p.Ser266=) rs1581616753
NM_000171.4(GLRA1):c.798A>G (p.Ser266=) rs1581616753
NM_000171.4(GLRA1):c.7A>G (p.Ser3Gly) rs2113472081
NM_000171.4(GLRA1):c.801G>C (p.Trp267Cys) rs281864917
NM_000171.4(GLRA1):c.801G>T (p.Trp267Cys)
NM_000171.4(GLRA1):c.805T>C (p.Ser269Pro)
NM_000171.4(GLRA1):c.807C>T (p.Ser269=)
NM_000171.4(GLRA1):c.815T>A (p.Ile272Asn) rs121918409
NM_000171.4(GLRA1):c.827C>A (p.Ala276Asp)
NM_000171.4(GLRA1):c.832C>A (p.Pro278Thr) rs121918413
NM_000171.4(GLRA1):c.843G>A (p.Val281=)
NM_000171.4(GLRA1):c.845G>A (p.Gly282Asp) rs1581616673
NM_000171.4(GLRA1):c.845G>T (p.Gly282Val) rs1581616673
NM_000171.4(GLRA1):c.848T>C (p.Leu283Pro)
NM_000171.4(GLRA1):c.854T>C (p.Ile285Thr) rs1561556213
NM_000171.4(GLRA1):c.855_872del (p.Ile285_Thr290del) rs1188392402
NM_000171.4(GLRA1):c.859A>G (p.Thr287Ala) rs1554083576
NM_000171.4(GLRA1):c.85G>T (p.Ala29Ser) rs1554086308
NM_000171.4(GLRA1):c.862G>A (p.Val288Met) rs121918416
NM_000171.4(GLRA1):c.869C>T (p.Thr290Ile) rs1064795411
NM_000171.4(GLRA1):c.876C>G (p.Thr292=)
NM_000171.4(GLRA1):c.879C>G (p.Thr293=)
NM_000171.4(GLRA1):c.882G>C (p.Gln294His) rs121918411
NM_000171.4(GLRA1):c.884G>A (p.Ser295Asn) rs267606848
NM_000171.4(GLRA1):c.888C>A (p.Ser296=) rs192326771
NM_000171.4(GLRA1):c.889G>C (p.Gly297Arg) rs1561556166
NM_000171.4(GLRA1):c.892T>A (p.Ser298Thr) rs281864920
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln) rs121918408
NM_000171.4(GLRA1):c.896G>T (p.Arg299Leu) rs121918408
NM_000171.4(GLRA1):c.910A>G (p.Lys304Glu) rs121918412
NM_000171.4(GLRA1):c.912+10A>T rs1047432199
NM_000171.4(GLRA1):c.912+11T>C
NM_000171.4(GLRA1):c.912+11_912+12insCTC rs2113343212
NM_000171.4(GLRA1):c.912+12T>C
NM_000171.4(GLRA1):c.912+7C>T rs2113343240
NM_000171.4(GLRA1):c.912+8_912+9insTGCCGGCTCTCGAG rs2113343234
NM_000171.4(GLRA1):c.913-16del
NM_000171.4(GLRA1):c.913-19T>G
NM_000171.4(GLRA1):c.913-1G>A
NM_000171.4(GLRA1):c.913-5T>C
NM_000171.4(GLRA1):c.913-6dup rs2113290193
NM_000171.4(GLRA1):c.913-8C>T rs768129276
NM_000171.4(GLRA1):c.913-8dup
NM_000171.4(GLRA1):c.917C>A (p.Ser306Tyr) rs2113290161
NM_000171.4(GLRA1):c.920A>C (p.Tyr307Ser) rs121918410
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys) rs121918410
NM_000171.4(GLRA1):c.921del (p.Ser306_Tyr307insTer) rs281864921
NM_000171.4(GLRA1):c.921dup (p.Val308fs)
NM_000171.4(GLRA1):c.932T>C (p.Ile311Thr)
NM_000171.4(GLRA1):c.936C>T (p.Asp312=) rs1217083281
NM_000171.4(GLRA1):c.937A>G (p.Ile313Val) rs1346802411
NM_000171.4(GLRA1):c.942G>C (p.Trp314Cys) rs867618642
NM_000171.4(GLRA1):c.943A>T (p.Met315Leu)
NM_000171.4(GLRA1):c.951T>G (p.Val317=)
NM_000171.4(GLRA1):c.953G>T (p.Cys318Phe)
NM_000171.4(GLRA1):c.981A>T (p.Leu327Phe)
NM_000171.4(GLRA1):c.985T>C (p.Tyr329His)
NM_000171.4(GLRA1):c.990T>C (p.Ala330=)
NM_000171.4(GLRA1):c.991_1000del (p.Ala331fs)
NM_000171.4(GLRA1):c.99C>A (p.Pro33=)
NM_000171.4(GLRA1):c.99dup (p.Lys34fs)
NM_001146040.1(GLRA1):c.(?_-287)_(912+?)del

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