ClinVar Miner

List of variants studied for Polyglucosan body myopathy type 1 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 420
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HGVS dbSNP gnomAD frequency
NM_031229.4(RBCK1):c.261+15G>T rs11698154 0.14404
NM_031229.4(RBCK1):c.144G>A (p.Glu48=) rs41281892 0.03013
NM_031229.4(RBCK1):c.757-15G>C rs200457271 0.00970
NM_031229.4(RBCK1):c.756+3G>A rs146804136 0.00350
NM_031229.4(RBCK1):c.168-20G>T rs149174797 0.00153
NM_031229.4(RBCK1):c.1030-18G>A rs369024234 0.00092
NM_031229.4(RBCK1):c.1453-10C>T rs112086441 0.00086
NM_031229.4(RBCK1):c.150C>T (p.Ser50=) rs149008463 0.00081
NM_031229.4(RBCK1):c.1257C>T (p.Ala419=) rs151306710 0.00070
NM_031229.4(RBCK1):c.1030-4G>A rs149038161 0.00056
NM_031229.4(RBCK1):c.654G>A (p.Arg218=) rs149541936 0.00049
NM_031229.4(RBCK1):c.782A>G (p.Asn261Ser) rs377605009 0.00047
NM_031229.4(RBCK1):c.918-11C>T rs369471646 0.00044
NM_031229.4(RBCK1):c.173G>C (p.Trp58Ser) rs143804674 0.00041
NM_031229.4(RBCK1):c.246G>A (p.Ala82=) rs148091459 0.00036
NM_031229.4(RBCK1):c.550G>A (p.Gly184Arg) rs147407444 0.00034
NM_031229.4(RBCK1):c.703G>A (p.Glu235Lys) rs201030033 0.00031
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu) rs143194967 0.00031
NM_031229.4(RBCK1):c.461-4A>G rs371854549 0.00019
NM_031229.4(RBCK1):c.531C>T (p.Val177=) rs375018967 0.00019
NM_031229.4(RBCK1):c.204C>T (p.Thr68=) rs189407509 0.00015
NM_031229.4(RBCK1):c.1336C>T (p.Arg446Cys) rs372540581 0.00014
NM_031229.4(RBCK1):c.957G>A (p.Ala319=) rs148685980 0.00014
NM_031229.4(RBCK1):c.1390C>T (p.Arg464Cys) rs145423115 0.00013
NM_031229.4(RBCK1):c.1040C>G (p.Pro347Arg) rs370963132 0.00011
NM_031229.4(RBCK1):c.1090C>T (p.Arg364Cys) rs144018482 0.00011
NM_031229.4(RBCK1):c.1189G>A (p.Val397Ile) rs538961301 0.00010
NM_031229.4(RBCK1):c.1308+20G>A rs141923181 0.00010
NM_031229.4(RBCK1):c.746A>G (p.Gln249Arg) rs763971799 0.00010
NM_031229.4(RBCK1):c.1337G>A (p.Arg446His) rs150032325 0.00009
NM_031229.4(RBCK1):c.50G>A (p.Arg17Gln) rs200757913 0.00008
NM_031229.4(RBCK1):c.738G>T (p.Ala246=) rs2281553 0.00008
NM_031229.4(RBCK1):c.226C>T (p.Arg76Cys) rs575392530 0.00007
NM_031229.4(RBCK1):c.28G>C (p.Glu10Gln) rs376438608 0.00007
NM_031229.4(RBCK1):c.1029G>A (p.Ala343=) rs201470953 0.00006
NM_031229.4(RBCK1):c.1164G>A (p.Glu388=) rs750877383 0.00006
NM_031229.4(RBCK1):c.1293G>A (p.Thr431=) rs766366513 0.00006
NM_031229.4(RBCK1):c.1333A>G (p.Met445Val) rs372983302 0.00006
NM_031229.4(RBCK1):c.1520A>G (p.Gln507Arg) rs969675403 0.00006
NM_031229.4(RBCK1):c.358C>T (p.Arg120Trp) rs774464341 0.00006
NM_031229.4(RBCK1):c.5A>G (p.Asp2Gly) rs763445513 0.00006
NM_031229.4(RBCK1):c.839C>T (p.Ala280Val) rs1331848000 0.00006
NM_031229.4(RBCK1):c.956C>T (p.Ala319Val) rs1199811720 0.00006
NM_031229.4(RBCK1):c.992C>T (p.Ser331Leu) rs781592121 0.00006
NM_031229.4(RBCK1):c.1308+19C>T rs554956050 0.00005
NM_031229.4(RBCK1):c.331C>G (p.Gln111Glu) rs746197240 0.00005
NM_031229.4(RBCK1):c.514C>A (p.Pro172Thr) rs751621844 0.00005
NM_031229.4(RBCK1):c.808C>G (p.Gln270Glu) rs201645896 0.00005
NM_031229.4(RBCK1):c.1055G>A (p.Arg352Gln) rs776253021 0.00004
NM_031229.4(RBCK1):c.132A>T (p.Gln44His) rs145132343 0.00004
NM_031229.4(RBCK1):c.1356C>T (p.Ile452=) rs746385953 0.00004
NM_031229.4(RBCK1):c.1374C>T (p.Asp458=) rs780494996 0.00004
NM_031229.4(RBCK1):c.1428C>T (p.Thr476=) rs375635112 0.00004
NM_031229.4(RBCK1):c.1480C>T (p.Arg494Cys) rs749184826 0.00004
NM_031229.4(RBCK1):c.1489G>A (p.Val497Ile) rs371527119 0.00004
NM_031229.4(RBCK1):c.513C>G (p.Gly171=) rs777854248 0.00004
NM_031229.4(RBCK1):c.59C>T (p.Ala20Val) rs780587700 0.00004
NM_031229.4(RBCK1):c.69T>G (p.Asp23Glu) rs748386516 0.00004
NM_031229.4(RBCK1):c.807C>G (p.Asp269Glu) rs111283441 0.00004
NM_031229.4(RBCK1):c.833A>T (p.Glu278Val) rs758729708 0.00004
NM_031229.4(RBCK1):c.940C>T (p.Arg314Cys) rs144105841 0.00004
NM_031229.4(RBCK1):c.941G>A (p.Arg314His) rs759203606 0.00004
NM_031229.4(RBCK1):c.1285C>T (p.Arg429Trp) rs764244683 0.00003
NM_031229.4(RBCK1):c.1346A>G (p.Gln449Arg) rs371077650 0.00003
NM_031229.4(RBCK1):c.1380C>T (p.Cys460=) rs377305490 0.00003
NM_031229.4(RBCK1):c.256G>C (p.Asp86His) rs759833242 0.00003
NM_031229.4(RBCK1):c.326G>A (p.Arg109Gln) rs568820415 0.00003
NM_031229.4(RBCK1):c.338C>T (p.Thr113Ile) rs372591105 0.00003
NM_031229.4(RBCK1):c.473A>G (p.Lys158Arg) rs772796019 0.00003
NM_031229.4(RBCK1):c.482C>T (p.Thr161Met) rs766841580 0.00003
NM_031229.4(RBCK1):c.63C>T (p.Gly21=) rs749576109 0.00003
NM_031229.4(RBCK1):c.64G>A (p.Gly22Arg) rs546711324 0.00003
NM_031229.4(RBCK1):c.699C>G (p.Asp233Glu) rs746724862 0.00003
NM_031229.4(RBCK1):c.855C>T (p.Cys285=) rs776856644 0.00003
NM_031229.4(RBCK1):c.861G>A (p.Ser287=) rs1053428615 0.00003
NM_031229.4(RBCK1):c.917+9C>T rs752577528 0.00003
NM_031229.4(RBCK1):c.1117A>T (p.Thr373Ser) rs531364402 0.00002
NM_031229.4(RBCK1):c.1398C>T (p.Thr466=) rs532857178 0.00002
NM_031229.4(RBCK1):c.1446C>T (p.Gly482=) rs749891698 0.00002
NM_031229.4(RBCK1):c.175G>C (p.Val59Leu) rs751582683 0.00002
NM_031229.4(RBCK1):c.180C>T (p.Ser60=) rs757115540 0.00002
NM_031229.4(RBCK1):c.448C>T (p.Arg150Trp) rs778995926 0.00002
NM_031229.4(RBCK1):c.547C>G (p.Arg183Gly) rs747821371 0.00002
NM_031229.4(RBCK1):c.576C>T (p.Pro192=) rs976327623 0.00002
NM_031229.4(RBCK1):c.663C>G (p.Pro221=) rs750427179 0.00002
NM_031229.4(RBCK1):c.674A>G (p.Gln225Arg) rs905456806 0.00002
NM_031229.4(RBCK1):c.757-10G>T rs1472775469 0.00002
NM_031229.4(RBCK1):c.757-16C>A rs1203285203 0.00002
NM_031229.4(RBCK1):c.917+15C>T rs963667842 0.00002
NM_031229.4(RBCK1):c.993G>A (p.Ser331=) rs750664557 0.00002
NM_031229.4(RBCK1):c.1028C>T (p.Ala343Val) rs1232409954 0.00001
NM_031229.4(RBCK1):c.1030-11T>C rs1347263782 0.00001
NM_031229.4(RBCK1):c.1054C>T (p.Arg352Ter) rs780854072 0.00001
NM_031229.4(RBCK1):c.1068G>T (p.Leu356=) rs1244813118 0.00001
NM_031229.4(RBCK1):c.1091G>A (p.Arg364His) rs562488006 0.00001
NM_031229.4(RBCK1):c.113G>A (p.Arg38Gln) rs773934109 0.00001
NM_031229.4(RBCK1):c.1160A>G (p.Asn387Ser) rs566912235 0.00001
NM_031229.4(RBCK1):c.1209+17C>T rs2016795068 0.00001
NM_031229.4(RBCK1):c.1209+2_1209+3insA rs774461310 0.00001
NM_031229.4(RBCK1):c.1261C>T (p.Arg421Trp) rs771360977 0.00001
NM_031229.4(RBCK1):c.1264G>A (p.Ala422Thr) rs776994199 0.00001
NM_031229.4(RBCK1):c.1272C>T (p.Asn424=) rs370138905 0.00001
NM_031229.4(RBCK1):c.1297G>C (p.Glu433Gln) rs754890674 0.00001
NM_031229.4(RBCK1):c.1308+3G>A rs757924227 0.00001
NM_031229.4(RBCK1):c.1309-18G>C rs1031466010 0.00001
NM_031229.4(RBCK1):c.1326C>T (p.Gly442=) rs1437187965 0.00001
NM_031229.4(RBCK1):c.1381G>A (p.Asp461Asn) rs1201022654 0.00001
NM_031229.4(RBCK1):c.1395C>T (p.Cys465=) rs762116740 0.00001
NM_031229.4(RBCK1):c.1410C>T (p.Thr470=) rs369912362 0.00001
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys) rs1342598444 0.00001
NM_031229.4(RBCK1):c.1438C>T (p.Arg480Cys) rs1436848446 0.00001
NM_031229.4(RBCK1):c.1452+14C>T rs1465505607 0.00001
NM_031229.4(RBCK1):c.1452+15G>A rs569310074 0.00001
NM_031229.4(RBCK1):c.1452G>A (p.Gly484=) rs780470011 0.00001
NM_031229.4(RBCK1):c.1471G>A (p.Gly491Arg) rs770973545 0.00001
NM_031229.4(RBCK1):c.154A>G (p.Thr52Ala) rs755353013 0.00001
NM_031229.4(RBCK1):c.171G>A (p.Leu57=) rs539510245 0.00001
NM_031229.4(RBCK1):c.202A>G (p.Thr68Ala) rs779621384 0.00001
NM_031229.4(RBCK1):c.203C>T (p.Thr68Ile) rs753472058 0.00001
NM_031229.4(RBCK1):c.21A>G (p.Lys7=) rs1288403973 0.00001
NM_031229.4(RBCK1):c.245C>T (p.Ala82Val) rs544518686 0.00001
NM_031229.4(RBCK1):c.300G>C (p.Gln100His) rs752266924 0.00001
NM_031229.4(RBCK1):c.333G>A (p.Gln111=) rs758405216 0.00001
NM_031229.4(RBCK1):c.400C>T (p.Arg134Cys) rs146325218 0.00001
NM_031229.4(RBCK1):c.433C>T (p.Arg145Trp) rs751068368 0.00001
NM_031229.4(RBCK1):c.449G>A (p.Arg150Gln) rs748158080 0.00001
NM_031229.4(RBCK1):c.477C>T (p.Asp159=) rs1301599917 0.00001
NM_031229.4(RBCK1):c.542C>A (p.Pro181His) rs952034182 0.00001
NM_031229.4(RBCK1):c.581C>T (p.Pro194Leu) rs1165538930 0.00001
NM_031229.4(RBCK1):c.603G>A (p.Gly201=) rs1206906907 0.00001
NM_031229.4(RBCK1):c.609C>T (p.Thr203=) rs2016242054 0.00001
NM_031229.4(RBCK1):c.653G>A (p.Arg218Gln) rs764357407 0.00001
NM_031229.4(RBCK1):c.666G>C (p.Glu222Asp) rs754967314 0.00001
NM_031229.4(RBCK1):c.682G>A (p.Ala228Thr) rs752666659 0.00001
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs) rs730880330 0.00001
NM_031229.4(RBCK1):c.709C>G (p.Arg237Gly) rs762315366 0.00001
NM_031229.4(RBCK1):c.710G>C (p.Arg237Pro) rs770302308 0.00001
NM_031229.4(RBCK1):c.71A>C (p.Glu24Ala) rs773247812 0.00001
NM_031229.4(RBCK1):c.743G>A (p.Arg248His) rs1385885540 0.00001
NM_031229.4(RBCK1):c.757-6G>T rs1391498500 0.00001
NM_031229.4(RBCK1):c.800A>G (p.Gln267Arg) rs1055669487 0.00001
NM_031229.4(RBCK1):c.82A>G (p.Met28Val) rs909682858 0.00001
NM_031229.4(RBCK1):c.838G>A (p.Ala280Thr) rs367600993 0.00001
NM_031229.4(RBCK1):c.876C>T (p.Gly292=) rs767353266 0.00001
NM_031229.4(RBCK1):c.906C>T (p.His302=) rs1273262609 0.00001
NM_031229.4(RBCK1):c.916A>C (p.Arg306=) rs1438078445 0.00001
NM_031229.4(RBCK1):c.917+19C>T rs1473845806 0.00001
NM_031229.4(RBCK1):c.987C>G (p.Thr329=) rs778332884 0.00001
NC_000020.10:g.(?_389363)_(411094_?)dup
NC_000020.10:g.(?_389402)_(390689_?)dup
NC_000020.10:g.(?_389402)_(398594_?)del
NC_000020.10:g.(?_389402)_(402902_?)del
NC_000020.10:g.(?_389402)_(443049_?)del
NC_000020.10:g.(?_401495)_(443049_?)dup
NC_000020.11:g.(?_408719)_(765794_?)dup
NM_031229.4(RBCK1):c.1006C>T (p.Leu336=) rs2122282595
NM_031229.4(RBCK1):c.1009C>T (p.Leu337=) rs2122282623
NM_031229.4(RBCK1):c.100C>T (p.Leu34=) rs1440300058
NM_031229.4(RBCK1):c.1016G>A (p.Arg339Lys) rs2122282675
NM_031229.4(RBCK1):c.1017G>A (p.Arg339=) rs2122282701
NM_031229.4(RBCK1):c.1029+7C>T rs2122282889
NM_031229.4(RBCK1):c.1029+8C>T
NM_031229.4(RBCK1):c.1030-12G>A
NM_031229.4(RBCK1):c.1030-16C>T
NM_031229.4(RBCK1):c.1044G>A (p.Glu348=) rs2122324309
NM_031229.4(RBCK1):c.1049A>G (p.Tyr350Cys)
NM_031229.4(RBCK1):c.1065C>T (p.Asp355=)
NM_031229.4(RBCK1):c.1068G>C (p.Leu356=)
NM_031229.4(RBCK1):c.1069G>A (p.Gly357Ser) rs2122324503
NM_031229.4(RBCK1):c.1094G>T (p.Ser365Ile)
NM_031229.4(RBCK1):c.1111dup (p.Cys371fs)
NM_031229.4(RBCK1):c.1119C>A (p.Thr373=)
NM_031229.4(RBCK1):c.1129_1130delinsCT (p.Lys377Leu)
NM_031229.4(RBCK1):c.1136G>A (p.Trp379Ter)
NM_031229.4(RBCK1):c.1149G>A (p.Glu383=)
NM_031229.4(RBCK1):c.1153G>T (p.Asp385Tyr)
NM_031229.4(RBCK1):c.1164G>C (p.Glu388Asp)
NM_031229.4(RBCK1):c.1170C>G (p.Thr390=)
NM_031229.4(RBCK1):c.1176T>C (p.Pro392=)
NM_031229.4(RBCK1):c.1188C>T (p.His396=) rs766618284
NM_031229.4(RBCK1):c.1206C>T (p.Cys402=)
NM_031229.4(RBCK1):c.1209+11C>G
NM_031229.4(RBCK1):c.1209+24del
NM_031229.4(RBCK1):c.1209+6G>T
NM_031229.4(RBCK1):c.1209+8C>T
NM_031229.4(RBCK1):c.1210-19A>G
NM_031229.4(RBCK1):c.1210-7G>A
NM_031229.4(RBCK1):c.1210-8C>T
NM_031229.4(RBCK1):c.1221G>A (p.Glu407=) rs2122333198
NM_031229.4(RBCK1):c.1238A>G (p.Glu413Gly)
NM_031229.4(RBCK1):c.1239G>A (p.Glu413=)
NM_031229.4(RBCK1):c.1258_1259dup (p.Arg421fs) rs2122333654
NM_031229.4(RBCK1):c.1276G>A (p.Val426Met) rs763071132
NM_031229.4(RBCK1):c.1286G>A (p.Arg429Gln)
NM_031229.4(RBCK1):c.1292C>T (p.Thr431Met)
NM_031229.4(RBCK1):c.12G>A (p.Lys4=)
NM_031229.4(RBCK1):c.1302G>T (p.Met434Ile) rs1600315243
NM_031229.4(RBCK1):c.1305G>A (p.Leu435=)
NM_031229.4(RBCK1):c.1308+12A>G
NM_031229.4(RBCK1):c.1308+13C>T
NM_031229.4(RBCK1):c.1308+1G>T rs1555787903
NM_031229.4(RBCK1):c.1308+7C>T rs2122334650
NM_031229.4(RBCK1):c.1309-14C>G
NM_031229.4(RBCK1):c.1309-9C>T
NM_031229.4(RBCK1):c.1309G>A (p.Val437Met)
NM_031229.4(RBCK1):c.132A>G (p.Gln44=) rs145132343
NM_031229.4(RBCK1):c.1332C>G (p.Ala444=)
NM_031229.4(RBCK1):c.1344C>T (p.Pro448=) rs756825937
NM_031229.4(RBCK1):c.1357G>A (p.Val453Met)
NM_031229.4(RBCK1):c.1368G>T (p.Lys456Asn)
NM_031229.4(RBCK1):c.1369A>G (p.Lys457Glu)
NM_031229.4(RBCK1):c.1377C>T (p.Gly459=) rs2122338340
NM_031229.4(RBCK1):c.1383C>T (p.Asp461=)
NM_031229.4(RBCK1):c.1384T>C (p.Trp462Arg)
NM_031229.4(RBCK1):c.1386G>A (p.Trp462Ter)
NM_031229.4(RBCK1):c.1390C>G (p.Arg464Gly)
NM_031229.4(RBCK1):c.1408A>G (p.Thr470Ala)
NM_031229.4(RBCK1):c.1410C>A (p.Thr470=)
NM_031229.4(RBCK1):c.141T>C (p.Pro47=)
NM_031229.4(RBCK1):c.1430A>G (p.Lys477Arg)
NM_031229.4(RBCK1):c.1431G>A (p.Lys477=) rs2122338869
NM_031229.4(RBCK1):c.1434C>T (p.Gly478=) rs767016233
NM_031229.4(RBCK1):c.143A>C (p.Glu48Ala) rs756720324
NM_031229.4(RBCK1):c.1452+15G>T
NM_031229.4(RBCK1):c.1452+6T>C rs2122339130
NM_031229.4(RBCK1):c.146T>C (p.Val49Ala) rs2015609266
NM_031229.4(RBCK1):c.1473G>C (p.Gly491=)
NM_031229.4(RBCK1):c.1482C>T (p.Arg494=)
NM_031229.4(RBCK1):c.1488G>A (p.Arg496=) rs2122349257
NM_031229.4(RBCK1):c.1495G>A (p.Gly499Arg) rs2016958362
NM_031229.4(RBCK1):c.149C>T (p.Ser50Phe)
NM_031229.4(RBCK1):c.1514G>A (p.Ser505Asn)
NM_031229.4(RBCK1):c.1530C>T (p.His510=) rs1002077278
NM_031229.4(RBCK1):c.156G>A (p.Thr52=)
NM_031229.4(RBCK1):c.167+10G>A
NM_031229.4(RBCK1):c.167+3G>A rs2015610951
NM_031229.4(RBCK1):c.167+9T>C
NM_031229.4(RBCK1):c.168-14G>C
NM_031229.4(RBCK1):c.168-20G>A
NM_031229.4(RBCK1):c.169C>T (p.Leu57=)
NM_031229.4(RBCK1):c.185A>T (p.Glu62Val) rs1568554230
NM_031229.4(RBCK1):c.186G>A (p.Glu62=)
NM_031229.4(RBCK1):c.19A>G (p.Lys7Glu)
NM_031229.4(RBCK1):c.205G>A (p.Val69Ile) rs778362577
NM_031229.4(RBCK1):c.205G>C (p.Val69Leu) rs778362577
NM_031229.4(RBCK1):c.209C>T (p.Thr70Ile)
NM_031229.4(RBCK1):c.22+11G>A
NM_031229.4(RBCK1):c.22+17G>C
NM_031229.4(RBCK1):c.222A>T (p.Thr74=)
NM_031229.4(RBCK1):c.227G>A (p.Arg76His)
NM_031229.4(RBCK1):c.227G>C (p.Arg76Pro) rs772407882
NM_031229.4(RBCK1):c.228C>G (p.Arg76=) rs2122225668
NM_031229.4(RBCK1):c.240A>G (p.Thr80=)
NM_031229.4(RBCK1):c.242T>C (p.Val81Ala) rs778228682
NM_031229.4(RBCK1):c.261+14C>T
NM_031229.4(RBCK1):c.261+15G>A rs11698154
NM_031229.4(RBCK1):c.261+20G>A
NM_031229.4(RBCK1):c.261+6_261+9del rs754865819
NM_031229.4(RBCK1):c.262-17C>G
NM_031229.4(RBCK1):c.262-4C>G
NM_031229.4(RBCK1):c.262-6C>A
NM_031229.4(RBCK1):c.290T>C (p.Val97Ala)
NM_031229.4(RBCK1):c.290T>G (p.Val97Gly) rs764728866
NM_031229.4(RBCK1):c.317G>A (p.Arg106Gln) rs752153553
NM_031229.4(RBCK1):c.325C>T (p.Arg109Ter) rs1568554654
NM_031229.4(RBCK1):c.330C>T (p.Asp110=)
NM_031229.4(RBCK1):c.331C>T (p.Gln111Ter) rs746197240
NM_031229.4(RBCK1):c.348C>G (p.Ser116=)
NM_031229.4(RBCK1):c.354G>A (p.Gly118=) rs560528051
NM_031229.4(RBCK1):c.359G>A (p.Arg120Gln)
NM_031229.4(RBCK1):c.366T>C (p.Asn122=) rs2122227710
NM_031229.4(RBCK1):c.372C>T (p.Asp124=)
NM_031229.4(RBCK1):c.412C>T (p.Leu138Phe)
NM_031229.4(RBCK1):c.419C>T (p.Pro140Leu) rs2122228193
NM_031229.4(RBCK1):c.434G>T (p.Arg145Leu)
NM_031229.4(RBCK1):c.436G>A (p.Glu146Lys) rs1555785275
NM_031229.4(RBCK1):c.441G>A (p.Arg147=)
NM_031229.4(RBCK1):c.447G>A (p.Leu149=)
NM_031229.4(RBCK1):c.450G>T (p.Arg150=) rs2016096112
NM_031229.4(RBCK1):c.456G>A (p.Leu152=)
NM_031229.4(RBCK1):c.459A>G (p.Glu153=)
NM_031229.4(RBCK1):c.460+12C>T
NM_031229.4(RBCK1):c.460+13C>T
NM_031229.4(RBCK1):c.460+14_460+47del rs2122228766
NM_031229.4(RBCK1):c.460+15T>C
NM_031229.4(RBCK1):c.461-12C>G
NM_031229.4(RBCK1):c.461-8C>A
NM_031229.4(RBCK1):c.462T>C (p.Asp154=)
NM_031229.4(RBCK1):c.463C>A (p.Leu155Met) rs2016220877
NM_031229.4(RBCK1):c.481A>G (p.Thr161Ala) rs2016222055
NM_031229.4(RBCK1):c.483G>A (p.Thr161=)
NM_031229.4(RBCK1):c.492G>A (p.Pro164=) rs765582031
NM_031229.4(RBCK1):c.492G>T (p.Pro164=)
NM_031229.4(RBCK1):c.496G>T (p.Gly166Cys) rs2122242440
NM_031229.4(RBCK1):c.49C>T (p.Arg17Ter)
NM_031229.4(RBCK1):c.508C>A (p.Pro170Thr)
NM_031229.4(RBCK1):c.513C>T (p.Gly171=) rs777854248
NM_031229.4(RBCK1):c.516C>T (p.Pro172=)
NM_031229.4(RBCK1):c.525C>T (p.Pro175=)
NM_031229.4(RBCK1):c.528G>T (p.Gly176=)
NM_031229.4(RBCK1):c.530T>C (p.Val177Ala) rs766968693
NM_031229.4(RBCK1):c.531C>A (p.Val177=)
NM_031229.4(RBCK1):c.531C>G (p.Val177=) rs375018967
NM_031229.4(RBCK1):c.543C>T (p.Pro181=) rs377036635
NM_031229.4(RBCK1):c.549G>C (p.Arg183=) rs1029755805
NM_031229.4(RBCK1):c.549G>T (p.Arg183=) rs1029755805
NM_031229.4(RBCK1):c.570T>G (p.Pro190=)
NM_031229.4(RBCK1):c.571G>A (p.Glu191Lys)
NM_031229.4(RBCK1):c.577C>T (p.Pro193Ser)
NM_031229.4(RBCK1):c.582+17C>T
NM_031229.4(RBCK1):c.582+1G>C rs1017046170
NM_031229.4(RBCK1):c.582+9_582+15dup
NM_031229.4(RBCK1):c.583-17G>C
NM_031229.4(RBCK1):c.586_596del (p.Gly196fs) rs1487503835
NM_031229.4(RBCK1):c.594G>A (p.Gln198=)
NM_031229.4(RBCK1):c.600C>T (p.Pro200=) rs561932073
NM_031229.4(RBCK1):c.601G>T (p.Gly201Trp)
NM_031229.4(RBCK1):c.606C>T (p.Cys202=)
NM_031229.4(RBCK1):c.621G>A (p.Lys207=) rs1394794776
NM_031229.4(RBCK1):c.627G>A (p.Thr209=)
NM_031229.4(RBCK1):c.633T>C (p.Pro211=)
NM_031229.4(RBCK1):c.653G>T (p.Arg218Leu) rs764357407
NM_031229.4(RBCK1):c.656C>T (p.Ala219Val)
NM_031229.4(RBCK1):c.657G>A (p.Ala219=)
NM_031229.4(RBCK1):c.658C>T (p.Arg220Cys)
NM_031229.4(RBCK1):c.663del (p.Glu222fs) rs2122245228
NM_031229.4(RBCK1):c.672C>T (p.Tyr224=)
NM_031229.4(RBCK1):c.687A>G (p.Ser229=) rs2122245613
NM_031229.4(RBCK1):c.695_742dup (p.Pro232_Leu247dup) rs2016250689
NM_031229.4(RBCK1):c.696C>A (p.Pro232=)
NM_031229.4(RBCK1):c.696C>G (p.Pro232=) rs549369680
NM_031229.4(RBCK1):c.697G>A (p.Asp233Asn) rs1056596650
NM_031229.4(RBCK1):c.697G>C (p.Asp233His)
NM_031229.4(RBCK1):c.700G>C (p.Glu234Gln) rs756811010
NM_031229.4(RBCK1):c.700GAG[4] (p.Glu236dup) rs2016252024
NM_031229.4(RBCK1):c.701_708dup (p.Ala238fs)
NM_031229.4(RBCK1):c.704A>G (p.Glu235Gly) rs2122246121
NM_031229.4(RBCK1):c.709C>A (p.Arg237=)
NM_031229.4(RBCK1):c.710G>A (p.Arg237Gln) rs770302308
NM_031229.4(RBCK1):c.714G>A (p.Ala238=)
NM_031229.4(RBCK1):c.714G>T (p.Ala238=)
NM_031229.4(RBCK1):c.717C>T (p.Arg239=)
NM_031229.4(RBCK1):c.720G>A (p.Leu240=)
NM_031229.4(RBCK1):c.723G>A (p.Ala241=) rs762123098
NM_031229.4(RBCK1):c.732G>T (p.Glu244Asp)
NM_031229.4(RBCK1):c.742C>A (p.Arg248Ser) rs993862197
NM_031229.4(RBCK1):c.744T>A (p.Arg248=)
NM_031229.4(RBCK1):c.745C>T (p.Gln249Ter) rs2016260522
NM_031229.4(RBCK1):c.751C>T (p.Gln251Ter) rs2016261486
NM_031229.4(RBCK1):c.754C>A (p.Gln252Lys) rs2016261661
NM_031229.4(RBCK1):c.756+10A>G
NM_031229.4(RBCK1):c.757-10G>A rs1472775469
NM_031229.4(RBCK1):c.757-11C>T
NM_031229.4(RBCK1):c.757-13C>T
NM_031229.4(RBCK1):c.757-16C>T
NM_031229.4(RBCK1):c.757-20G>A
NM_031229.4(RBCK1):c.757-20_757-8del rs746640446
NM_031229.4(RBCK1):c.757-4C>T
NM_031229.4(RBCK1):c.757-7T>C
NM_031229.4(RBCK1):c.757C>T (p.Arg253Trp) rs867822612
NM_031229.4(RBCK1):c.758G>C (p.Arg253Pro)
NM_031229.4(RBCK1):c.760A>G (p.Lys254Glu) rs2016380869
NM_031229.4(RBCK1):c.763CAG[3] (p.Gln258del) rs770767944
NM_031229.4(RBCK1):c.763CAG[5] (p.Gln258_Glu259insGln)
NM_031229.4(RBCK1):c.765G>C (p.Gln255His) rs1167649288
NM_031229.4(RBCK1):c.770A>G (p.Gln257Arg) rs755744736
NM_031229.4(RBCK1):c.770A>T (p.Gln257Leu)
NM_031229.4(RBCK1):c.772C>T (p.Gln258Ter)
NM_031229.4(RBCK1):c.790C>T (p.Gln264Ter) rs587777561
NM_031229.4(RBCK1):c.795C>G (p.His265Gln) rs1001816526
NM_031229.4(RBCK1):c.812G>A (p.Arg271Lys)
NM_031229.4(RBCK1):c.831G>A (p.Thr277=)
NM_031229.4(RBCK1):c.832G>C (p.Glu278Gln)
NM_031229.4(RBCK1):c.836C>A (p.Pro279His) rs778259648
NM_031229.4(RBCK1):c.837C>T (p.Pro279=) rs1433038293
NM_031229.4(RBCK1):c.840C>T (p.Ala280=)
NM_031229.4(RBCK1):c.845G>A (p.Cys282Tyr) rs1600298063
NM_031229.4(RBCK1):c.860C>T (p.Ser287Leu)
NM_031229.4(RBCK1):c.867G>A (p.Leu289=)
NM_031229.4(RBCK1):c.873C>A (p.Pro291=)
NM_031229.4(RBCK1):c.874G>A (p.Gly292Ser)
NM_031229.4(RBCK1):c.875G>T (p.Gly292Val)
NM_031229.4(RBCK1):c.880G>T (p.Ala294Ser)
NM_031229.4(RBCK1):c.882C>A (p.Ala294=)
NM_031229.4(RBCK1):c.883G>C (p.Val295Leu) rs765956229
NM_031229.4(RBCK1):c.883GTG[1] (p.Val296del) rs2122269453
NM_031229.4(RBCK1):c.891G>A (p.Leu297=)
NM_031229.4(RBCK1):c.893G>A (p.Arg298His) rs2016395491
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs) rs727503764
NM_031229.4(RBCK1):c.900T>C (p.Cys300=)
NM_031229.4(RBCK1):c.903G>T (p.Leu301=) rs1228337215
NM_031229.4(RBCK1):c.907A>G (p.Thr303Ala)
NM_031229.4(RBCK1):c.909C>T (p.Thr303=)
NM_031229.4(RBCK1):c.917+11dup
NM_031229.4(RBCK1):c.917+12A>G
NM_031229.4(RBCK1):c.917+17C>T
NM_031229.4(RBCK1):c.917+19C>A
NM_031229.4(RBCK1):c.917+19C>G
NM_031229.4(RBCK1):c.918-14C>T
NM_031229.4(RBCK1):c.918-16C>G
NM_031229.4(RBCK1):c.918-18T>G
NM_031229.4(RBCK1):c.918-19_918-18del rs1440664609
NM_031229.4(RBCK1):c.918-7C>G
NM_031229.4(RBCK1):c.927G>A (p.Leu309=)
NM_031229.4(RBCK1):c.933C>T (p.Gly311=) rs2016473810
NM_031229.4(RBCK1):c.936C>T (p.Thr312=)
NM_031229.4(RBCK1):c.942C>T (p.Arg314=)
NM_031229.4(RBCK1):c.948C>T (p.Ser316=)
NM_031229.4(RBCK1):c.949C>T (p.Gln317Ter) rs2122281705
NM_031229.4(RBCK1):c.94A>G (p.Ile32Val)
NM_031229.4(RBCK1):c.976A>G (p.Ile326Val)
NM_031229.4(RBCK1):c.981C>T (p.Asp327=) rs2122282048
NM_031229.4(RBCK1):c.986C>A (p.Thr329Asn)
NM_031229.4(RBCK1):c.989A>G (p.Tyr330Cys) rs2122282171
NM_031229.4(RBCK1):c.992C>G (p.Ser331Trp) rs781592121
NM_031229.4(RBCK1):c.993G>T (p.Ser331=) rs750664557
NM_031229.4(RBCK1):c.994T>A (p.Cys332Ser) rs2122282299
NM_031229.4(RBCK1):c.996C>T (p.Cys332=)
NM_031229.4(RBCK1):c.997T>C (p.Ser333Pro)
NM_031229.4(RBCK1):c.999G>A (p.Ser333=) rs146181107

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