ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy, 26 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 600
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HGVS dbSNP gnomAD frequency
NM_004975.4(KCNB1):c.198C>T (p.His66=) rs520282 0.02665
NM_004975.4(KCNB1):c.2473C>T (p.Pro825Ser) rs34467662 0.02504
NM_004975.4(KCNB1):c.1847C>G (p.Thr616Ser) rs2229006 0.01543
NM_004975.4(KCNB1):c.1837C>T (p.Pro613Ser) rs112735799 0.01273
NM_004975.4(KCNB1):c.2570G>A (p.Ser857Asn) rs34280195 0.00926
NM_004975.4(KCNB1):c.1182G>A (p.Gly394=) rs77238446 0.00481
NM_004975.4(KCNB1):c.2334C>T (p.Leu778=) rs142111310 0.00290
NM_004975.4(KCNB1):c.1389T>A (p.Ile463=) rs115929614 0.00239
NM_004975.4(KCNB1):c.2106G>A (p.Ala702=) rs149678923 0.00238
NM_004975.4(KCNB1):c.1296G>A (p.Arg432=) rs142605642 0.00097
NM_004975.4(KCNB1):c.1734G>C (p.Gly578=) rs145456546 0.00081
NM_004975.4(KCNB1):c.2136G>A (p.Thr712=) rs139458439 0.00057
NM_004975.4(KCNB1):c.2363C>A (p.Thr788Lys) rs140932985 0.00045
NM_004975.4(KCNB1):c.177G>A (p.Lys59=) rs117017889 0.00036
NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile) rs140932636 0.00034
NM_004975.4(KCNB1):c.2324C>A (p.Pro775His) rs530927636 0.00025
NM_004975.4(KCNB1):c.51G>A (p.Pro17=) rs772184358 0.00022
NM_004975.4(KCNB1):c.2298G>T (p.Leu766=) rs773587323 0.00018
NM_004975.4(KCNB1):c.2520C>T (p.Asp840=) rs372147544 0.00017
NM_004975.4(KCNB1):c.568-18A>G rs190903326 0.00017
NM_004975.4(KCNB1):c.1356T>C (p.Asp452=) rs775898692 0.00015
NM_004975.4(KCNB1):c.1551G>A (p.Ser517=) rs377030406 0.00014
NM_004975.4(KCNB1):c.2059G>A (p.Val687Ile) rs372263564 0.00014
NM_004975.4(KCNB1):c.1367G>A (p.Arg456Gln) rs761082551 0.00012
NM_004975.4(KCNB1):c.2364G>A (p.Thr788=) rs112132596 0.00012
NM_004975.4(KCNB1):c.630G>A (p.Thr210=) rs150723418 0.00011
NM_004975.4(KCNB1):c.1997C>T (p.Pro666Leu) rs201212125 0.00010
NM_004975.4(KCNB1):c.2105C>T (p.Ala702Val) rs144379782 0.00010
NM_004975.4(KCNB1):c.1071C>T (p.Asp357=) rs199964916 0.00009
NM_004975.4(KCNB1):c.1305T>C (p.Ala435=) rs201403239 0.00009
NM_004975.4(KCNB1):c.1654G>A (p.Ala552Thr) rs146429493 0.00009
NM_004975.4(KCNB1):c.1861G>T (p.Ala621Ser) rs201960228 0.00009
NM_004975.4(KCNB1):c.2115C>T (p.Val705=) rs199910304 0.00009
NM_004975.4(KCNB1):c.2472C>T (p.Gly824=) rs375177375 0.00009
NM_004975.4(KCNB1):c.2091C>T (p.Asn697=) rs746382408 0.00007
NM_004975.4(KCNB1):c.1655C>T (p.Ala552Val) rs370974891 0.00006
NM_004975.4(KCNB1):c.1905T>C (p.Gly635=) rs117166054 0.00006
NM_004975.4(KCNB1):c.2375C>T (p.Ser792Leu) rs777053418 0.00006
NM_004975.4(KCNB1):c.2521G>A (p.Val841Ile) rs542708318 0.00006
NM_004975.4(KCNB1):c.546C>T (p.Pro182=) rs373223027 0.00006
NM_004975.4(KCNB1):c.1705G>A (p.Val569Ile) rs376490656 0.00005
NM_004975.4(KCNB1):c.2249C>T (p.Ala750Val) rs750157634 0.00005
NM_004975.4(KCNB1):c.2250G>A (p.Ala750=) rs368736609 0.00005
NM_004975.4(KCNB1):c.2327A>G (p.Lys776Arg) rs756982426 0.00005
NM_004975.4(KCNB1):c.39C>T (p.Thr13=) rs775536644 0.00005
NM_004975.4(KCNB1):c.504C>T (p.Cys168=) rs139960830 0.00005
NM_004975.4(KCNB1):c.855C>T (p.Ser285=) rs367938880 0.00005
NM_004975.4(KCNB1):c.1336G>A (p.Val446Ile) rs776968332 0.00004
NM_004975.4(KCNB1):c.1388T>C (p.Ile463Thr) rs145421532 0.00004
NM_004975.4(KCNB1):c.1622C>A (p.Ser541Tyr) rs374460751 0.00004
NM_004975.4(KCNB1):c.1879C>T (p.Arg627Trp) rs554351105 0.00004
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp) rs779379680 0.00004
NM_004975.4(KCNB1):c.2093G>A (p.Arg698Gln) rs1449919002 0.00004
NM_004975.4(KCNB1):c.210C>G (p.Leu70=) rs1460995367 0.00004
NM_004975.4(KCNB1):c.2376G>A (p.Ser792=) rs750105922 0.00004
NM_004975.4(KCNB1):c.2456C>T (p.Ala819Val) rs777645076 0.00004
NM_004975.4(KCNB1):c.2561G>A (p.Arg854Gln) rs764648709 0.00004
NM_004975.4(KCNB1):c.375C>T (p.Asp125=) rs201414449 0.00004
NM_004975.4(KCNB1):c.568-5C>T rs185995580 0.00004
NM_004975.4(KCNB1):c.594C>T (p.Phe198=) rs375779334 0.00004
NM_004975.4(KCNB1):c.651C>T (p.Leu217=) rs537777787 0.00004
NM_004975.4(KCNB1):c.840C>T (p.Thr280=) rs748523037 0.00004
NM_004975.4(KCNB1):c.114G>T (p.Gly38=) rs1233894851 0.00003
NM_004975.4(KCNB1):c.168G>T (p.Arg56=) rs780529809 0.00003
NM_004975.4(KCNB1):c.19A>G (p.Lys7Glu) rs936778119 0.00003
NM_004975.4(KCNB1):c.2116G>A (p.Ala706Thr) rs779750227 0.00003
NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met) rs565025643 0.00003
NM_004975.4(KCNB1):c.598G>A (p.Val200Ile) rs748573940 0.00003
NM_004975.4(KCNB1):c.1167G>A (p.Leu389=) rs771768169 0.00002
NM_004975.4(KCNB1):c.1207C>T (p.Leu403=) rs749215518 0.00002
NM_004975.4(KCNB1):c.1335C>T (p.Ile445=) rs368667514 0.00002
NM_004975.4(KCNB1):c.1387A>G (p.Ile463Val) rs777560545 0.00002
NM_004975.4(KCNB1):c.1494C>A (p.Thr498=) rs1483168827 0.00002
NM_004975.4(KCNB1):c.1595T>C (p.Met532Thr) rs781098579 0.00002
NM_004975.4(KCNB1):c.1640C>T (p.Thr547Ile) rs896349825 0.00002
NM_004975.4(KCNB1):c.1724G>A (p.Arg575His) rs544069848 0.00002
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln) rs753575587 0.00002
NM_004975.4(KCNB1):c.2058C>T (p.Pro686=) rs908785527 0.00002
NM_004975.4(KCNB1):c.2135C>T (p.Thr712Met) rs775588653 0.00002
NM_004975.4(KCNB1):c.2152G>A (p.Val718Met) rs774976039 0.00002
NM_004975.4(KCNB1):c.2207G>A (p.Arg736Gln) rs151175979 0.00002
NM_004975.4(KCNB1):c.2225C>A (p.Thr742Lys) rs1218107028 0.00002
NM_004975.4(KCNB1):c.2248G>A (p.Ala750Thr) rs758332295 0.00002
NM_004975.4(KCNB1):c.2271C>T (p.Asp757=) rs190726852 0.00002
NM_004975.4(KCNB1):c.2351C>T (p.Pro784Leu) rs766596568 0.00002
NM_004975.4(KCNB1):c.2478T>C (p.Ser826=) rs554768897 0.00002
NM_004975.4(KCNB1):c.2516C>T (p.Pro839Leu) rs761070687 0.00002
NM_004975.4(KCNB1):c.2537G>T (p.Gly846Val) rs1386449842 0.00002
NM_004975.4(KCNB1):c.513G>A (p.Lys171=) rs762797906 0.00002
NM_004975.4(KCNB1):c.567+11G>C rs772220866 0.00002
NM_004975.4(KCNB1):c.568-20C>T rs934317402 0.00002
NM_004975.4(KCNB1):c.568-7C>T rs958924629 0.00002
NM_004975.4(KCNB1):c.568-9T>C rs771401083 0.00002
NM_004975.4(KCNB1):c.693C>T (p.His231=) rs765195036 0.00002
NM_004975.4(KCNB1):c.96G>A (p.Arg32=) rs781213174 0.00002
NM_004975.4(KCNB1):c.9G>A (p.Ala3=) rs768300586 0.00002
NM_004975.4(KCNB1):c.1023C>T (p.Gly341=) rs763113494 0.00001
NM_004975.4(KCNB1):c.1047C>A (p.Val349=) rs773495969 0.00001
NM_004975.4(KCNB1):c.1098C>T (p.Ala366=) rs777002170 0.00001
NM_004975.4(KCNB1):c.1116C>G (p.Thr372=) rs1347667767 0.00001
NM_004975.4(KCNB1):c.1128T>A (p.Thr376=) rs375581882 0.00001
NM_004975.4(KCNB1):c.117G>A (p.Gly39=) rs368376649 0.00001
NM_004975.4(KCNB1):c.1294C>T (p.Arg432Trp) rs752596402 0.00001
NM_004975.4(KCNB1):c.1299A>G (p.Arg433=) rs758700383 0.00001
NM_004975.4(KCNB1):c.1332C>T (p.Ser444=) rs1178240064 0.00001
NM_004975.4(KCNB1):c.1355A>G (p.Asp452Gly) rs760931963 0.00001
NM_004975.4(KCNB1):c.1410G>A (p.Glu470=) rs1214032172 0.00001
NM_004975.4(KCNB1):c.1444C>A (p.His482Asn) rs1171133807 0.00001
NM_004975.4(KCNB1):c.1506G>T (p.Lys502Asn) rs761247010 0.00001
NM_004975.4(KCNB1):c.1529G>A (p.Gly510Glu) rs767889610 0.00001
NM_004975.4(KCNB1):c.1550C>T (p.Ser517Leu) rs770677266 0.00001
NM_004975.4(KCNB1):c.1606A>T (p.Met536Leu) rs1984227856 0.00001
NM_004975.4(KCNB1):c.1649C>T (p.Ser550Leu) rs374024543 0.00001
NM_004975.4(KCNB1):c.1693A>G (p.Ile565Val) rs761452916 0.00001
NM_004975.4(KCNB1):c.1723C>T (p.Arg575Cys) rs947355756 0.00001
NM_004975.4(KCNB1):c.1727C>A (p.Thr576Lys) rs1355278265 0.00001
NM_004975.4(KCNB1):c.1778G>C (p.Ser593Thr) rs1415361663 0.00001
NM_004975.4(KCNB1):c.1862C>T (p.Ala621Val) rs770069345 0.00001
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr) rs1447311755 0.00001
NM_004975.4(KCNB1):c.1937C>A (p.Ala646Asp) rs1247080453 0.00001
NM_004975.4(KCNB1):c.1950T>C (p.Ser650=) rs767412426 0.00001
NM_004975.4(KCNB1):c.1960A>T (p.Ile654Phe) rs1276898684 0.00001
NM_004975.4(KCNB1):c.1962C>T (p.Ile654=) rs1226209770 0.00001
NM_004975.4(KCNB1):c.1963G>A (p.Glu655Lys) rs769948178 0.00001
NM_004975.4(KCNB1):c.1968C>T (p.Ser656=) rs751330439 0.00001
NM_004975.4(KCNB1):c.2049A>C (p.Pro683=) rs751308084 0.00001
NM_004975.4(KCNB1):c.204G>A (p.Ser68=) rs1202077661 0.00001
NM_004975.4(KCNB1):c.2055C>A (p.Leu685=) rs200849612 0.00001
NM_004975.4(KCNB1):c.2083C>A (p.Leu695Ile) rs775433680 0.00001
NM_004975.4(KCNB1):c.2099G>A (p.Ser700Asn) rs1984201256 0.00001
NM_004975.4(KCNB1):c.2127G>A (p.Glu709=) rs750280554 0.00001
NM_004975.4(KCNB1):c.2180C>G (p.Thr727Ser) rs778296598 0.00001
NM_004975.4(KCNB1):c.2200C>T (p.Pro734Ser) rs1214997887 0.00001
NM_004975.4(KCNB1):c.2201C>A (p.Pro734His) rs780940515 0.00001
NM_004975.4(KCNB1):c.2203C>G (p.Pro735Ala) rs267605983 0.00001
NM_004975.4(KCNB1):c.2320C>A (p.Pro774Thr) rs748597382 0.00001
NM_004975.4(KCNB1):c.2322C>T (p.Pro774=) rs1471605520 0.00001
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala) rs142461221 0.00001
NM_004975.4(KCNB1):c.2345C>T (p.Thr782Ile) rs751639377 0.00001
NM_004975.4(KCNB1):c.2352G>A (p.Pro784=) rs763162952 0.00001
NM_004975.4(KCNB1):c.2410A>G (p.Thr804Ala) rs1262864745 0.00001
NM_004975.4(KCNB1):c.2411C>T (p.Thr804Ile) rs1049874069 0.00001
NM_004975.4(KCNB1):c.2425T>C (p.Leu809=) rs745432739 0.00001
NM_004975.4(KCNB1):c.2457A>G (p.Ala819=) rs755210446 0.00001
NM_004975.4(KCNB1):c.2471G>A (p.Gly824Asp) rs780469478 0.00001
NM_004975.4(KCNB1):c.2524C>T (p.Arg842Cys) rs758964585 0.00001
NM_004975.4(KCNB1):c.2525G>A (p.Arg842His) rs185422169 0.00001
NM_004975.4(KCNB1):c.2531T>C (p.Leu844Ser) rs1314041160 0.00001
NM_004975.4(KCNB1):c.27C>A (p.Gly9=) rs760648829 0.00001
NM_004975.4(KCNB1):c.29C>T (p.Ser10Phe) rs902335211 0.00001
NM_004975.4(KCNB1):c.300C>G (p.Arg100=) rs760237871 0.00001
NM_004975.4(KCNB1):c.411C>T (p.Tyr137=) rs747090668 0.00001
NM_004975.4(KCNB1):c.492T>C (p.Asp164=) rs1392771017 0.00001
NM_004975.4(KCNB1):c.4C>T (p.Pro2Ser) rs1054441474 0.00001
NM_004975.4(KCNB1):c.54C>T (p.Pro18=) rs1403444378 0.00001
NM_004975.4(KCNB1):c.567+3G>A rs752873604 0.00001
NM_004975.4(KCNB1):c.660C>T (p.Phe220=) rs751017425 0.00001
NM_004975.4(KCNB1):c.702C>T (p.Ala234=) rs753634361 0.00001
NM_004975.4(KCNB1):c.703G>A (p.Val235Met) rs1315753296 0.00001
NM_004975.4(KCNB1):c.711C>T (p.Ile237=) rs1020438851 0.00001
NM_004975.4(KCNB1):c.738G>A (p.Leu246=) rs1336511502 0.00001
NM_004975.4(KCNB1):c.81G>A (p.Lys27=) rs910155179 0.00001
NM_004975.4(KCNB1):c.84G>C (p.Ala28=) rs748425302 0.00001
NM_004975.4(KCNB1):c.856G>A (p.Val286Met) rs1194019938 0.00001
NM_004975.4(KCNB1):c.882C>T (p.Arg294=) rs757868422 0.00001
NM_004975.4(KCNB1):c.900C>A (p.Arg300=) rs1057523982 0.00001
NM_004975.4(KCNB1):c.903C>T (p.Ile301=) rs1441724609 0.00001
NM_004975.4(KCNB1):c.954G>A (p.Gln318=) rs368624252 0.00001
NM_004975.4(KCNB1):c.974G>A (p.Arg325Gln) rs759765009 0.00001
NM_004975.4(KCNB1):c.984C>T (p.Tyr328=) rs1179351306 0.00001
NM_004975.4(KCNB1):c.99C>A (p.Val33=) rs932309335 0.00001
NC_000020.10:g.(?_47989520)_(47991549_?)dup
NC_000020.10:g.(?_48098431)_(48099017_?)dup
NC_000020.11:g.(?_48921870)_(49482500_?)del
NC_000020.11:g.(?_49372963)_(49375012_?)del
NM_004975.4(KCNB1):c.1000C>T (p.Leu334Phe)
NM_004975.4(KCNB1):c.1002C>G (p.Leu334=)
NM_004975.4(KCNB1):c.1006C>T (p.Leu336Phe) rs2146813900
NM_004975.4(KCNB1):c.1015G>C (p.Ala339Pro) rs1984255406
NM_004975.4(KCNB1):c.101G>A (p.Arg34His) rs2122803857
NM_004975.4(KCNB1):c.102C>T (p.Arg34=) rs2122803849
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)
NM_004975.4(KCNB1):c.1051T>G (p.Phe351Val)
NM_004975.4(KCNB1):c.1052T>C (p.Phe351Ser) rs2146813862
NM_004975.4(KCNB1):c.1062G>A (p.Lys354=)
NM_004975.4(KCNB1):c.1065_1066delinsAT (p.Asp355_Glu356delinsGluTer) rs2146813849
NM_004975.4(KCNB1):c.1066G>A (p.Glu356Lys)
NM_004975.4(KCNB1):c.1079del (p.Lys360fs)
NM_004975.4(KCNB1):c.1080G>A (p.Lys360=)
NM_004975.4(KCNB1):c.1080G>C (p.Lys360Asn) rs2146813828
NM_004975.4(KCNB1):c.1088del (p.Ser363fs) rs1555889103
NM_004975.4(KCNB1):c.108C>T (p.Asn36=)
NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg) rs1569017174
NM_004975.4(KCNB1):c.1106G>T (p.Trp369Leu)
NM_004975.4(KCNB1):c.1107G>A (p.Trp369Ter) rs2146813797
NM_004975.4(KCNB1):c.1110G>T (p.Trp370Cys)
NM_004975.4(KCNB1):c.1112CCA[1] (p.Thr372del)
NM_004975.4(KCNB1):c.1119C>T (p.Ile373=) rs2146813780
NM_004975.4(KCNB1):c.1123A>G (p.Met375Val) rs1984250919
NM_004975.4(KCNB1):c.1126ACT[1] (p.Thr377del)
NM_004975.4(KCNB1):c.1130C>T (p.Thr377Ile) rs1569017148
NM_004975.4(KCNB1):c.1136G>T (p.Gly379Val) rs1984249721
NM_004975.4(KCNB1):c.1137G>A (p.Gly379=) rs372561609
NM_004975.4(KCNB1):c.1139A>C (p.Tyr380Ser)
NM_004975.4(KCNB1):c.1141G>A (p.Gly381Arg)
NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu) rs1569017114
NM_004975.4(KCNB1):c.1143A>T (p.Gly381=) rs1569017109
NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val) rs1984248540
NM_004975.4(KCNB1):c.1146C>T (p.Asp382=)
NM_004975.4(KCNB1):c.1155C>T (p.Pro385=)
NM_004975.4(KCNB1):c.1161T>C (p.Thr387=) rs1984247753
NM_004975.4(KCNB1):c.1169G>A (p.Gly390Glu) rs2146813695
NM_004975.4(KCNB1):c.1170G>A (p.Gly390=)
NM_004975.4(KCNB1):c.1174A>G (p.Ile392Val)
NM_004975.4(KCNB1):c.117del (p.Leu40fs) rs1601162716
NM_004975.4(KCNB1):c.1181G>A (p.Gly394Glu)
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr) rs1555889084
NM_004975.4(KCNB1):c.1190G>C (p.Cys397Ser)
NM_004975.4(KCNB1):c.1193G>A (p.Cys398Tyr)
NM_004975.4(KCNB1):c.1201G>A (p.Gly401Arg) rs1569017045
NM_004975.4(KCNB1):c.1202G>C (p.Gly401Ala)
NM_004975.4(KCNB1):c.1206C>G (p.Val402=) rs2146813631
NM_004975.4(KCNB1):c.1210G>A (p.Val404Met) rs1984244898
NM_004975.4(KCNB1):c.1210G>T (p.Val404Leu)
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val) rs1601071099
NM_004975.4(KCNB1):c.1218T>C (p.Ala406=)
NM_004975.4(KCNB1):c.1223C>G (p.Pro408Arg) rs2146813607
NM_004975.4(KCNB1):c.1229C>T (p.Pro410Leu) rs2146813598
NM_004975.4(KCNB1):c.122C>T (p.Ala41Val) rs1980525336
NM_004975.4(KCNB1):c.1231A>G (p.Ile411Val)
NM_004975.4(KCNB1):c.1236C>T (p.Ile412=)
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_004975.4(KCNB1):c.1244del (p.Asn415fs)
NM_004975.4(KCNB1):c.1246T>C (p.Phe416Leu) rs1984242860
NM_004975.4(KCNB1):c.1249T>C (p.Ser417Pro) rs2146813554
NM_004975.4(KCNB1):c.126C>G (p.His42Gln) rs1568658526
NM_004975.4(KCNB1):c.1288A>G (p.Ile430Val)
NM_004975.4(KCNB1):c.1289T>C (p.Ile430Thr)
NM_004975.4(KCNB1):c.1295G>A (p.Arg432Gln)
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004975.4(KCNB1):c.12C>T (p.Gly4=)
NM_004975.4(KCNB1):c.1338A>T (p.Val446=) rs2146813471
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr) rs1984239884
NM_004975.4(KCNB1):c.1344G>A (p.Met448Ile) rs1984239766
NM_004975.4(KCNB1):c.1345A>G (p.Asn449Asp) rs1984239652
NM_004975.4(KCNB1):c.1347C>T (p.Asn449=)
NM_004975.4(KCNB1):c.1350G>A (p.Met450Ile)
NM_004975.4(KCNB1):c.1358C>T (p.Ala453Val) rs2146813430
NM_004975.4(KCNB1):c.1366C>G (p.Arg456Gly) rs368043123
NM_004975.4(KCNB1):c.1385A>C (p.Asp462Ala)
NM_004975.4(KCNB1):c.1393G>A (p.Val465Ile) rs1294696493
NM_004975.4(KCNB1):c.1394T>G (p.Val465Gly) rs2015314520
NM_004975.4(KCNB1):c.1397A>C (p.Glu466Ala) rs2146813382
NM_004975.4(KCNB1):c.1401A>T (p.Lys467Asn)
NM_004975.4(KCNB1):c.1403A>G (p.Asn468Ser)
NM_004975.4(KCNB1):c.1408G>A (p.Glu470Lys)
NM_004975.4(KCNB1):c.140G>T (p.Arg47Leu)
NM_004975.4(KCNB1):c.1410G>T (p.Glu470Asp)
NM_004975.4(KCNB1):c.1418G>A (p.Gly473Asp)
NM_004975.4(KCNB1):c.1435C>T (p.Gln479Ter)
NM_004975.4(KCNB1):c.1446C>A (p.His482Gln) rs750701951
NM_004975.4(KCNB1):c.1449G>T (p.Leu483Phe)
NM_004975.4(KCNB1):c.1458C>G (p.Asn486Lys) rs1388412501
NM_004975.4(KCNB1):c.1475A>G (p.Lys492Arg)
NM_004975.4(KCNB1):c.1485G>A (p.Leu495=)
NM_004975.4(KCNB1):c.1488T>G (p.Ser496=)
NM_004975.4(KCNB1):c.1496G>C (p.Ser499Thr) rs1984232770
NM_004975.4(KCNB1):c.1518C>G (p.Thr506=)
NM_004975.4(KCNB1):c.1529G>T (p.Gly510Val) rs767889610
NM_004975.4(KCNB1):c.152G>T (p.Arg51Leu) rs2122803715
NM_004975.4(KCNB1):c.1544C>T (p.Ala515Val) rs1159101104
NM_004975.4(KCNB1):c.1545C>T (p.Ala515=) rs2146813194
NM_004975.4(KCNB1):c.1549T>C (p.Ser517Pro) rs2146813186
NM_004975.4(KCNB1):c.154C>T (p.Leu52=)
NM_004975.4(KCNB1):c.1564C>T (p.Gln522Ter)
NM_004975.4(KCNB1):c.1565A>T (p.Gln522Leu)
NM_004975.4(KCNB1):c.1566G>T (p.Gln522His)
NM_004975.4(KCNB1):c.1569C>T (p.His523=)
NM_004975.4(KCNB1):c.1575C>T (p.Asn525=)
NM_004975.4(KCNB1):c.157C>A (p.Pro53Thr)
NM_004975.4(KCNB1):c.1581G>A (p.Gln527=)
NM_004975.4(KCNB1):c.1593C>T (p.Asp531=)
NM_004975.4(KCNB1):c.1594A>G (p.Met532Val) rs1984228484
NM_004975.4(KCNB1):c.1597T>C (p.Tyr533His) rs1984228232
NM_004975.4(KCNB1):c.1617C>T (p.Thr539=) rs2146813087
NM_004975.4(KCNB1):c.161G>A (p.Arg54His)
NM_004975.4(KCNB1):c.1628C>A (p.Pro543His) rs1251785989
NM_004975.4(KCNB1):c.1628C>T (p.Pro543Leu)
NM_004975.4(KCNB1):c.1629C>T (p.Pro543=)
NM_004975.4(KCNB1):c.1641C>T (p.Thr547=) rs1490389656
NM_004975.4(KCNB1):c.1651G>A (p.Ala551Thr)
NM_004975.4(KCNB1):c.1676A>G (p.Glu559Gly)
NM_004975.4(KCNB1):c.1692T>C (p.Ser564=) rs2146812969
NM_004975.4(KCNB1):c.16A>G (p.Thr6Ala)
NM_004975.4(KCNB1):c.1700G>A (p.Ser567Asn)
NM_004975.4(KCNB1):c.1702C>A (p.Pro568Thr)
NM_004975.4(KCNB1):c.1704C>G (p.Pro568=) rs539550218
NM_004975.4(KCNB1):c.1704C>T (p.Pro568=) rs539550218
NM_004975.4(KCNB1):c.1705G>C (p.Val569Leu)
NM_004975.4(KCNB1):c.1723C>G (p.Arg575Gly) rs947355756
NM_004975.4(KCNB1):c.1724G>T (p.Arg575Leu) rs544069848
NM_004975.4(KCNB1):c.1727C>G (p.Thr576Arg) rs1355278265
NM_004975.4(KCNB1):c.1738A>G (p.Ile580Val)
NM_004975.4(KCNB1):c.1747C>A (p.Arg583=)
NM_004975.4(KCNB1):c.1748G>A (p.Arg583Gln)
NM_004975.4(KCNB1):c.1748G>C (p.Arg583Pro)
NM_004975.4(KCNB1):c.1769G>A (p.Ser590Asn) rs2146812849
NM_004975.4(KCNB1):c.1787_1788del (p.Thr596fs) rs1984217696
NM_004975.4(KCNB1):c.1800G>A (p.Glu600=) rs1290919811
NM_004975.4(KCNB1):c.1817A>G (p.His606Arg) rs2146812820
NM_004975.4(KCNB1):c.182G>A (p.Arg61His)
NM_004975.4(KCNB1):c.1839C>T (p.Pro613=)
NM_004975.4(KCNB1):c.183C>T (p.Arg61=)
NM_004975.4(KCNB1):c.1841G>A (p.Ser614Asn)
NM_004975.4(KCNB1):c.1843_1862del (p.Lys615fs) rs2146812741
NM_004975.4(KCNB1):c.1847C>T (p.Thr616Ile) rs2229006
NM_004975.4(KCNB1):c.1850G>A (p.Gly617Glu)
NM_004975.4(KCNB1):c.1851G>A (p.Gly617=) rs2146812770
NM_004975.4(KCNB1):c.1853G>A (p.Gly618Asp)
NM_004975.4(KCNB1):c.1853G>T (p.Gly618Val) rs771932289
NM_004975.4(KCNB1):c.1863C>T (p.Ala621=) rs2146812733
NM_004975.4(KCNB1):c.1869A>G (p.Glu623=)
NM_004975.4(KCNB1):c.1874G>A (p.Gly625Asp) rs2146812721
NM_004975.4(KCNB1):c.1879_1880delinsTT (p.Arg627Leu) rs2146812716
NM_004975.4(KCNB1):c.1880G>A (p.Arg627Gln) rs754927664
NM_004975.4(KCNB1):c.1880G>T (p.Arg627Leu) rs754927664
NM_004975.4(KCNB1):c.1883G>A (p.Gly628Glu)
NM_004975.4(KCNB1):c.1891G>A (p.Gly631Ser)
NM_004975.4(KCNB1):c.1891G>T (p.Gly631Cys) rs1433173706
NM_004975.4(KCNB1):c.1896C>T (p.Ala632=) rs1420669551
NM_004975.4(KCNB1):c.1899T>G (p.Ser633Arg)
NM_004975.4(KCNB1):c.1907G>C (p.Arg636Thr) rs2146812675
NM_004975.4(KCNB1):c.1912G>T (p.Val638Leu) rs756972062
NM_004975.4(KCNB1):c.1926C>T (p.Pro642=)
NM_004975.4(KCNB1):c.1935T>C (p.Asp645=)
NM_004975.4(KCNB1):c.1935T>G (p.Asp645Glu) rs763718208
NM_004975.4(KCNB1):c.1940G>A (p.Ser647Asn) rs760648723
NM_004975.4(KCNB1):c.1941C>G (p.Ser647Arg)
NM_004975.4(KCNB1):c.1946A>G (p.His649Arg)
NM_004975.4(KCNB1):c.1951A>G (p.Ser651Gly)
NM_004975.4(KCNB1):c.1971del (p.Lys658fs)
NM_004975.4(KCNB1):c.1973A>G (p.Lys658Arg)
NM_004975.4(KCNB1):c.1981A>G (p.Met661Val) rs1392516083
NM_004975.4(KCNB1):c.1982T>A (p.Met661Lys)
NM_004975.4(KCNB1):c.2008C>T (p.Arg670Ter) rs1984206797
NM_004975.4(KCNB1):c.2011G>T (p.Ala671Ser)
NM_004975.4(KCNB1):c.2028C>G (p.Phe676Leu) rs755628300
NM_004975.4(KCNB1):c.2034G>T (p.Glu678Asp)
NM_004975.4(KCNB1):c.203C>A (p.Ser68Ter)
NM_004975.4(KCNB1):c.2040C>T (p.Asp680=)
NM_004975.4(KCNB1):c.2051T>A (p.Leu684His)
NM_004975.4(KCNB1):c.2063T>C (p.Leu688Pro) rs1601069788
NM_004975.4(KCNB1):c.2067G>T (p.Gly689=)
NM_004975.4(KCNB1):c.2075A>G (p.His692Arg)
NM_004975.4(KCNB1):c.2079C>G (p.Asp693Glu)
NM_004975.4(KCNB1):c.2096G>A (p.Gly699Glu)
NM_004975.4(KCNB1):c.2097G>T (p.Gly699=) rs749718924
NM_004975.4(KCNB1):c.2103T>C (p.Ala701=)
NM_004975.4(KCNB1):c.2105C>A (p.Ala702Glu) rs144379782
NM_004975.4(KCNB1):c.2107G>T (p.Ala703Ser)
NM_004975.4(KCNB1):c.2116G>T (p.Ala706Ser) rs779750227
NM_004975.4(KCNB1):c.2118T>C (p.Ala706=) rs2146812300
NM_004975.4(KCNB1):c.2122_2126dup (p.Glu709fs)
NM_004975.4(KCNB1):c.2124G>A (p.Leu708=) rs1207155153
NM_004975.4(KCNB1):c.2128T>A (p.Cys710Ser)
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr)
NM_004975.4(KCNB1):c.2134dup (p.Thr712fs)
NM_004975.4(KCNB1):c.2139T>G (p.Leu713=)
NM_004975.4(KCNB1):c.2143G>C (p.Asp715His) rs1601069538
NM_004975.4(KCNB1):c.2151T>C (p.Ala717=) rs2146812219
NM_004975.4(KCNB1):c.2173A>C (p.Ile725Leu)
NM_004975.4(KCNB1):c.2173A>G (p.Ile725Val)
NM_004975.4(KCNB1):c.21G>C (p.Lys7Asn)
NM_004975.4(KCNB1):c.2200C>A (p.Pro734Thr) rs1214997887
NM_004975.4(KCNB1):c.2201C>G (p.Pro734Arg)
NM_004975.4(KCNB1):c.2201C>T (p.Pro734Leu)
NM_004975.4(KCNB1):c.2202C>A (p.Pro734=)
NM_004975.4(KCNB1):c.2204C>T (p.Pro735Leu) rs1984193843
NM_004975.4(KCNB1):c.2206C>A (p.Arg736=)
NM_004975.4(KCNB1):c.2206C>G (p.Arg736Gly)
NM_004975.4(KCNB1):c.2206C>T (p.Arg736Trp) rs754428005
NM_004975.4(KCNB1):c.2206del (p.Arg736fs) rs759902465
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs)
NM_004975.4(KCNB1):c.2207G>C (p.Arg736Pro) rs151175979
NM_004975.4(KCNB1):c.2209T>A (p.Ser737Thr)
NM_004975.4(KCNB1):c.2213C>T (p.Pro738Leu)
NM_004975.4(KCNB1):c.2227G>A (p.Ala743Thr)
NM_004975.4(KCNB1):c.222T>C (p.Asp74=)
NM_004975.4(KCNB1):c.2234C>T (p.Ala745Val) rs1984191107
NM_004975.4(KCNB1):c.2235G>A (p.Ala745=)
NM_004975.4(KCNB1):c.2235G>T (p.Ala745=)
NM_004975.4(KCNB1):c.2238C>T (p.Phe746=)
NM_004975.4(KCNB1):c.2238_2243del (p.Asn747_Phe748del)
NM_004975.4(KCNB1):c.2250G>C (p.Ala750=) rs368736609
NM_004975.4(KCNB1):c.2252G>A (p.Gly751Asp)
NM_004975.4(KCNB1):c.2252G>T (p.Gly751Val) rs1451585001
NM_004975.4(KCNB1):c.2253T>G (p.Gly751=)
NM_004975.4(KCNB1):c.2266_2271del (p.Ile756_Asp757del)
NM_004975.4(KCNB1):c.2267T>C (p.Ile756Thr) rs1239521037
NM_004975.4(KCNB1):c.2269G>A (p.Asp757Asn)
NM_004975.4(KCNB1):c.2272G>A (p.Ala758Thr) rs774577428
NM_004975.4(KCNB1):c.2272G>T (p.Ala758Ser) rs774577428
NM_004975.4(KCNB1):c.2274A>T (p.Ala758=)
NM_004975.4(KCNB1):c.2279C>A (p.Thr760Lys)
NM_004975.4(KCNB1):c.228C>T (p.Tyr76=)
NM_004975.4(KCNB1):c.2298G>C (p.Leu766=)
NM_004975.4(KCNB1):c.2306G>A (p.Ser769Asn) rs1209493320
NM_004975.4(KCNB1):c.2306G>T (p.Ser769Ile) rs1209493320
NM_004975.4(KCNB1):c.2312A>T (p.Asp771Val) rs1304300872
NM_004975.4(KCNB1):c.2313C>T (p.Asp771=)
NM_004975.4(KCNB1):c.2315C>A (p.Ser772Tyr) rs1445771227
NM_004975.4(KCNB1):c.2319C>T (p.Ser773=)
NM_004975.4(KCNB1):c.2324C>G (p.Pro775Arg) rs530927636
NM_004975.4(KCNB1):c.2324C>T (p.Pro775Leu)
NM_004975.4(KCNB1):c.2325C>G (p.Pro775=) rs778951965
NM_004975.4(KCNB1):c.2329A>G (p.Ser777Gly) rs1984182896
NM_004975.4(KCNB1):c.2330G>T (p.Ser777Ile)
NM_004975.4(KCNB1):c.2340G>A (p.Gly780=) rs1410171749
NM_004975.4(KCNB1):c.2345C>G (p.Thr782Ser) rs751639377
NM_004975.4(KCNB1):c.235G>A (p.Asp79Asn)
NM_004975.4(KCNB1):c.2363C>T (p.Thr788Met) rs140932985
NM_004975.4(KCNB1):c.2366G>A (p.Gly789Glu)
NM_004975.4(KCNB1):c.2369C>T (p.Thr790Ile)
NM_004975.4(KCNB1):c.2370A>G (p.Thr790=) rs1411571280
NM_004975.4(KCNB1):c.2392G>C (p.Glu798Gln) rs1131691752
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn) rs1256695300
NM_004975.4(KCNB1):c.239A>G (p.Asp80Gly)
NM_004975.4(KCNB1):c.2403T>G (p.Pro801=)
NM_004975.4(KCNB1):c.2412C>A (p.Thr804=) rs1984177695
NM_004975.4(KCNB1):c.2415C>T (p.Ser805=) rs2146811802
NM_004975.4(KCNB1):c.2416C>T (p.Pro806Ser) rs1471856482
NM_004975.4(KCNB1):c.2417C>T (p.Pro806Leu) rs1249019020
NM_004975.4(KCNB1):c.243C>T (p.Asn81=) rs1295557969
NM_004975.4(KCNB1):c.2447C>A (p.Ser816Tyr)
NM_004975.4(KCNB1):c.244G>A (p.Glu82Lys)
NM_004975.4(KCNB1):c.2455G>A (p.Ala819Thr) rs373423740
NM_004975.4(KCNB1):c.2455G>T (p.Ala819Ser)
NM_004975.4(KCNB1):c.2460G>T (p.Leu820Phe) rs1984174923
NM_004975.4(KCNB1):c.2461A>T (p.Thr821Ser)
NM_004975.4(KCNB1):c.2468A>G (p.Lys823Arg) rs2146811699
NM_004975.4(KCNB1):c.2472_2473delinsTT (p.Pro825Ser) rs2146811676
NM_004975.4(KCNB1):c.2473C>G (p.Pro825Ala)
NM_004975.4(KCNB1):c.2474C>T (p.Pro825Leu) rs1744051695
NM_004975.4(KCNB1):c.2491T>C (p.Cys831Arg)
NM_004975.4(KCNB1):c.2502G>A (p.Glu834=)
NM_004975.4(KCNB1):c.2512T>C (p.Ser838Pro) rs1984172893
NM_004975.4(KCNB1):c.2515C>A (p.Pro839Thr) rs1984172647
NM_004975.4(KCNB1):c.2515C>T (p.Pro839Ser) rs1984172647
NM_004975.4(KCNB1):c.2529G>A (p.Val843=) rs1233867057
NM_004975.4(KCNB1):c.2536G>C (p.Gly846Arg)
NM_004975.4(KCNB1):c.2538G>A (p.Gly846=)
NM_004975.4(KCNB1):c.2540G>A (p.Gly847Glu)
NM_004975.4(KCNB1):c.2540G>C (p.Gly847Ala)
NM_004975.4(KCNB1):c.2540G>T (p.Gly847Val)
NM_004975.4(KCNB1):c.2546C>A (p.Ala849Asp)
NM_004975.4(KCNB1):c.2553A>G (p.Gly851=)
NM_004975.4(KCNB1):c.2556C>T (p.Ser852=) rs2146811529
NM_004975.4(KCNB1):c.2560C>T (p.Arg854Ter) rs780416138
NM_004975.4(KCNB1):c.2572A>G (p.Ile858Val)
NM_004975.4(KCNB1):c.264C>T (p.His88=)
NM_004975.4(KCNB1):c.267G>A (p.Pro89=)
NM_004975.4(KCNB1):c.270C>A (p.Gly90=)
NM_004975.4(KCNB1):c.270C>T (p.Gly90=)
NM_004975.4(KCNB1):c.279C>T (p.Thr93=)
NM_004975.4(KCNB1):c.28T>C (p.Ser10Pro)
NM_004975.4(KCNB1):c.307C>T (p.Arg103Ter) rs1601162563
NM_004975.4(KCNB1):c.315C>T (p.His105=) rs775196693
NM_004975.4(KCNB1):c.31C>T (p.Arg11Cys)
NM_004975.4(KCNB1):c.32G>T (p.Arg11Leu)
NM_004975.4(KCNB1):c.336G>A (p.Ala112=)
NM_004975.4(KCNB1):c.336G>T (p.Ala112=)
NM_004975.4(KCNB1):c.33C>A (p.Arg11=) rs943931190
NM_004975.4(KCNB1):c.357C>G (p.Leu119=) rs773968834
NM_004975.4(KCNB1):c.357C>T (p.Leu119=) rs773968834
NM_004975.4(KCNB1):c.368del (p.Gly123fs)
NM_004975.4(KCNB1):c.372C>T (p.Ile124=) rs147498424
NM_004975.4(KCNB1):c.407G>A (p.Arg136His) rs1980515306
NM_004975.4(KCNB1):c.41G>A (p.Ser14Asn)
NM_004975.4(KCNB1):c.426G>A (p.Glu142=) rs1440280154
NM_004975.4(KCNB1):c.432G>A (p.Met144Ile) rs1179147119
NM_004975.4(KCNB1):c.435C>G (p.Asn145Lys)
NM_004975.4(KCNB1):c.441G>T (p.Glu147Asp)
NM_004975.4(KCNB1):c.446A>G (p.Lys149Arg)
NM_004975.4(KCNB1):c.456C>G (p.Ala152=)
NM_004975.4(KCNB1):c.457G>C (p.Glu153Gln)
NM_004975.4(KCNB1):c.45G>C (p.Ser15=) rs1980529873
NM_004975.4(KCNB1):c.461C>T (p.Thr154Ile) rs1980513297
NM_004975.4(KCNB1):c.466C>A (p.Arg156=)
NM_004975.4(KCNB1):c.466C>G (p.Arg156Gly)
NM_004975.4(KCNB1):c.471G>T (p.Glu157Asp) rs144926751
NM_004975.4(KCNB1):c.472C>A (p.Arg158=) rs1278790809
NM_004975.4(KCNB1):c.474G>C (p.Arg158=)
NM_004975.4(KCNB1):c.477A>G (p.Glu159=) rs984041865
NM_004975.4(KCNB1):c.489C>T (p.Phe163=) rs767078520
NM_004975.4(KCNB1):c.490G>C (p.Asp164His)
NM_004975.4(KCNB1):c.495C>A (p.Asn165Lys) rs1239466410
NM_004975.4(KCNB1):c.505G>A (p.Ala169Thr)
NM_004975.4(KCNB1):c.525_526del (p.Trp176fs)
NM_004975.4(KCNB1):c.536T>C (p.Leu179Pro) rs2122803080
NM_004975.4(KCNB1):c.537G>T (p.Leu179=)
NM_004975.4(KCNB1):c.553T>C (p.Ser185Pro)
NM_004975.4(KCNB1):c.567+12A>T rs2122803009
NM_004975.4(KCNB1):c.567+13T>A
NM_004975.4(KCNB1):c.567+8T>G
NM_004975.4(KCNB1):c.567G>A (p.Lys189=) rs1980508600
NM_004975.4(KCNB1):c.568-10C>T rs1601072100
NM_004975.4(KCNB1):c.571C>A (p.Leu191Ile)
NM_004975.4(KCNB1):c.575C>T (p.Ala192Val)
NM_004975.4(KCNB1):c.578T>A (p.Ile193Lys) rs1555889171
NM_004975.4(KCNB1):c.587T>A (p.Ile196Asn)
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe) rs1601072041
NM_004975.4(KCNB1):c.5C>A (p.Pro2Gln)
NM_004975.4(KCNB1):c.5C>G (p.Pro2Arg) rs1279418021
NM_004975.4(KCNB1):c.603C>T (p.Leu201=)
NM_004975.4(KCNB1):c.606C>T (p.Ser202=) rs2146814354
NM_004975.4(KCNB1):c.607A>T (p.Thr203Ser)
NM_004975.4(KCNB1):c.611T>C (p.Ile204Thr)
NM_004975.4(KCNB1):c.615C>T (p.Ala205=) rs1601072012
NM_004975.4(KCNB1):c.61A>T (p.Met21Leu)
NM_004975.4(KCNB1):c.627C>A (p.Asn209Lys) rs1984276555
NM_004975.4(KCNB1):c.628A>G (p.Thr210Ala) rs2146814335
NM_004975.4(KCNB1):c.629C>A (p.Thr210Lys) rs1555889162
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.62T>A (p.Met21Lys)
NM_004975.4(KCNB1):c.62T>C (p.Met21Thr)
NM_004975.4(KCNB1):c.635C>T (p.Pro212Leu) rs2146814318
NM_004975.4(KCNB1):c.637G>T (p.Glu213Ter)
NM_004975.4(KCNB1):c.642A>G (p.Leu214=)
NM_004975.4(KCNB1):c.648C>T (p.Ser216=)
NM_004975.4(KCNB1):c.651C>G (p.Leu217=)
NM_004975.4(KCNB1):c.654T>G (p.Asp218Glu) rs2146814301
NM_004975.4(KCNB1):c.661G>A (p.Gly221Ser) rs1984274983
NM_004975.4(KCNB1):c.666G>A (p.Gln222=)
NM_004975.4(KCNB1):c.66G>A (p.Glu22=) rs745635029
NM_004975.4(KCNB1):c.676_685del (p.Asn226fs) rs2146814263
NM_004975.4(KCNB1):c.694G>A (p.Val232Met)
NM_004975.4(KCNB1):c.6G>A (p.Pro2=)
NM_004975.4(KCNB1):c.702C>G (p.Ala234=) rs753634361
NM_004975.4(KCNB1):c.709A>T (p.Ile237Phe) rs2146814233
NM_004975.4(KCNB1):c.70G>T (p.Val24Leu)
NM_004975.4(KCNB1):c.712G>T (p.Ala238Ser)
NM_004975.4(KCNB1):c.718T>A (p.Phe240Ile) rs2146814213
NM_004975.4(KCNB1):c.725T>C (p.Met242Thr)
NM_004975.4(KCNB1):c.729G>A (p.Glu243=) rs2146814204
NM_004975.4(KCNB1):c.72G>A (p.Val24=)
NM_004975.4(KCNB1):c.732C>T (p.Tyr244=)
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg) rs1601071839
NM_004975.4(KCNB1):c.73C>A (p.Arg25Ser)
NM_004975.4(KCNB1):c.740G>A (p.Arg247Lys) rs1984270863
NM_004975.4(KCNB1):c.750C>T (p.Ser250=) rs2146814173
NM_004975.4(KCNB1):c.752C>T (p.Ser251Leu) rs1984270019
NM_004975.4(KCNB1):c.753G>A (p.Ser251=)
NM_004975.4(KCNB1):c.754C>T (p.Pro252Ser) rs1984269566
NM_004975.4(KCNB1):c.786C>G (p.Leu262=)
NM_004975.4(KCNB1):c.788A>G (p.Asn263Ser) rs2146814130
NM_004975.4(KCNB1):c.789T>C (p.Asn263=)
NM_004975.4(KCNB1):c.78C>T (p.Ser26=) rs1194383095
NM_004975.4(KCNB1):c.790G>A (p.Ala264Thr)
NM_004975.4(KCNB1):c.799TTG[1] (p.Leu268del)
NM_004975.4(KCNB1):c.7G>A (p.Ala3Thr)
NM_004975.4(KCNB1):c.812T>C (p.Leu271Pro) rs1569017375
NM_004975.4(KCNB1):c.813G>A (p.Leu271=) rs763166574
NM_004975.4(KCNB1):c.816A>G (p.Pro272=)
NM_004975.4(KCNB1):c.817T>C (p.Tyr273His)
NM_004975.4(KCNB1):c.819C>T (p.Tyr273=) rs2146814097
NM_004975.4(KCNB1):c.822T>C (p.Tyr274=)
NM_004975.4(KCNB1):c.82G>A (p.Ala28Thr)
NM_004975.4(KCNB1):c.831T>C (p.Ile277=)
NM_004975.4(KCNB1):c.83C>G (p.Ala28Gly)
NM_004975.4(KCNB1):c.83C>T (p.Ala28Val) rs769852170
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys) rs1601071708
NM_004975.4(KCNB1):c.863_873delinsG (p.Gln288fs) rs1601071660
NM_004975.4(KCNB1):c.864A>G (p.Gln288=) rs2146814058
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.878G>A (p.Arg293His)
NM_004975.4(KCNB1):c.890A>G (p.Gln297Arg) rs749981323
NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys) rs202170806
NM_004975.4(KCNB1):c.907C>T (p.Arg303Ter) rs1391326211
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln) rs1057518621
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004975.4(KCNB1):c.919A>G (p.Ile307Val) rs1984261678
NM_004975.4(KCNB1):c.91C>T (p.Arg31Trp)
NM_004975.4(KCNB1):c.92G>C (p.Arg31Pro) rs2122803896
NM_004975.4(KCNB1):c.931G>A (p.Ala311Thr) rs2146813980
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004975.4(KCNB1):c.935G>C (p.Arg312Pro)
NM_004975.4(KCNB1):c.939C>T (p.His313=) rs1304387636
NM_004975.4(KCNB1):c.947G>T (p.Gly316Val)
NM_004975.4(KCNB1):c.956C>A (p.Ser319Tyr) rs1984259606
NM_004975.4(KCNB1):c.959T>C (p.Leu320Pro) rs2146813954
NM_004975.4(KCNB1):c.95G>C (p.Arg32Pro)
NM_004975.4(KCNB1):c.961G>A (p.Gly321Ser) rs2146813951
NM_004975.4(KCNB1):c.968C>T (p.Thr323Ile) rs1569017257
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp) rs1276378675
NM_004975.4(KCNB1):c.975GAG[3] (p.Arg326_Ser327insArg)
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_004975.4(KCNB1):c.988G>C (p.Glu330Gln)
NM_004975.4(KCNB1):c.990G>A (p.Glu330=) rs1131691489
NM_004975.4(KCNB1):c.996C>T (p.Gly332=)

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