ClinVar Miner

List of variants reported as likely benign for malignant migrating partial seizures of infancy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2444
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HGVS dbSNP gnomAD frequency
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839 0.00251
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418 0.00182
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181 0.00159
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) rs141433824 0.00137
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228 0.00128
NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) rs138282349 0.00128
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458 0.00122
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839 0.00112
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077 0.00088
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991 0.00075
NM_020708.5(SLC12A5):c.2680-3C>T rs141933171 0.00070
NM_007254.4(PNKP):c.1299-6C>T rs112635688 0.00067
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=) rs35245209 0.00067
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=) rs45492700 0.00065
NM_020708.5(SLC12A5):c.93C>T (p.Ser31=) rs145033801 0.00063
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 0.00061
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00057
NM_015192.4(PLCB1):c.3039G>A (p.Gln1013=) rs139859188 0.00049
NM_020708.5(SLC12A5):c.3126-3dup rs767708918 0.00049
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623 0.00048
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975 0.00047
NM_020822.3(KCNT1):c.3682G>A (p.Glu1228Lys) rs144679713 0.00047
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00046
NM_015192.4(PLCB1):c.627A>G (p.Pro209=) rs151006778 0.00046
NM_020708.5(SLC12A5):c.276G>C (p.Val92=) rs141848967 0.00045
NM_020708.5(SLC12A5):c.2377+10T>C rs369281155 0.00044
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His) rs114371269 0.00044
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=) rs370155559 0.00041
NM_020708.5(SLC12A5):c.808A>G (p.Ile270Val) rs753714930 0.00037
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077 0.00037
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342 0.00035
NM_020708.5(SLC12A5):c.2378-18C>A rs199747973 0.00034
NM_020822.3(KCNT1):c.957C>T (p.Asp319=) rs148562086 0.00033
NM_020822.3(KCNT1):c.1258C>T (p.Leu420=) rs199996353 0.00032
NM_007254.4(PNKP):c.1386+41_1386+42del rs765720389 0.00030
NM_020708.5(SLC12A5):c.1941T>G (p.Gly647=) rs148489203 0.00030
NM_020822.3(KCNT1):c.2008+7C>T rs372707698 0.00030
NM_020708.5(SLC12A5):c.1989G>C (p.Gly663=) rs373648545 0.00029
NM_020708.5(SLC12A5):c.2548-8G>A rs180864043 0.00029
NM_007254.4(PNKP):c.498+11C>T rs371375970 0.00027
NM_020822.3(KCNT1):c.2418G>A (p.Ser806=) rs142726010 0.00027
NM_015192.4(PLCB1):c.3607C>T (p.Leu1203=) rs150804955 0.00026
NM_020708.5(SLC12A5):c.936G>A (p.Thr312=) rs150595305 0.00026
NM_020708.5(SLC12A5):c.942C>T (p.Thr314=) rs143072268 0.00026
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896 0.00026
NM_020822.3(KCNT1):c.467A>G (p.Asn156Ser) rs200632957 0.00026
NM_020822.3(KCNT1):c.759+13G>A rs375237065 0.00026
NM_015192.4(PLCB1):c.2907C>T (p.Ser969=) rs368328261 0.00025
NM_020708.5(SLC12A5):c.2013-10C>T rs374272959 0.00025
NM_020822.3(KCNT1):c.1638G>A (p.Pro546=) rs138352399 0.00025
NM_020708.5(SLC12A5):c.2547+13C>T rs374783489 0.00024
NM_020822.3(KCNT1):c.1511-4G>A rs368480443 0.00024
NM_020822.3(KCNT1):c.3162C>T (p.His1054=) rs146272510 0.00024
NM_015192.4(PLCB1):c.696-18G>T rs371748595 0.00023
NM_015192.4(PLCB1):c.714A>C (p.Pro238=) rs147567110 0.00023
NM_020822.3(KCNT1):c.3694G>A (p.Glu1232Lys) rs138109494 0.00023
NM_007254.4(PNKP):c.678G>A (p.Lys226=) rs141969535 0.00021
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093 0.00021
NM_020822.3(KCNT1):c.2058C>T (p.Ser686=) rs111647144 0.00021
NM_020822.3(KCNT1):c.2236G>A (p.Val746Met) rs559344618 0.00021
NM_007254.4(PNKP):c.1387-37A>T rs530790386 0.00020
NM_020822.3(KCNT1):c.2136C>T (p.Pro712=) rs377516058 0.00020
NM_007254.4(PNKP):c.1281C>T (p.Asp427=) rs770775129 0.00019
NM_007254.4(PNKP):c.198+9G>A rs370222304 0.00019
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=) rs149452823 0.00019
NM_020822.3(KCNT1):c.3027+18C>T rs369541323 0.00019
NM_020822.3(KCNT1):c.3178-16G>T rs55906268 0.00019
NM_007254.4(PNKP):c.1298+14G>A rs559532107 0.00018
NM_020822.3(KCNT1):c.3001A>G (p.Thr1001Ala) rs143780942 0.00018
NM_020822.3(KCNT1):c.637G>A (p.Val213Ile) rs143536408 0.00018
NM_020822.3(KCNT1):c.867C>A (p.Ile289=) rs761045901 0.00018
NM_007254.4(PNKP):c.1413T>C (p.His471=) rs370017666 0.00016
NM_015192.4(PLCB1):c.1250+17T>A rs776777689 0.00016
NM_020822.3(KCNT1):c.2008+19G>A rs369119562 0.00016
NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu) rs148162797 0.00016
NM_020822.3(KCNT1):c.3288C>T (p.Gly1096=) rs376167145 0.00016
NM_020822.3(KCNT1):c.585C>T (p.Ile195=) rs148910448 0.00016
NM_020822.3(KCNT1):c.2350-10C>T rs367855961 0.00015
NM_020822.3(KCNT1):c.2595-9C>T rs369966222 0.00015
NM_007254.4(PNKP):c.1448+13A>G rs748882543 0.00014
NM_020708.5(SLC12A5):c.2439G>A (p.Met813Ile) rs200191107 0.00014
NM_020822.3(KCNT1):c.1788C>T (p.Ile596=) rs373444768 0.00014
NM_020822.3(KCNT1):c.1852G>A (p.Ala618Thr) rs756996609 0.00014
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys) rs747605326 0.00014
NM_020822.3(KCNT1):c.3066C>T (p.Tyr1022=) rs766717782 0.00014
NM_020822.3(KCNT1):c.3246C>T (p.Arg1082=) rs765774534 0.00014
NM_020822.3(KCNT1):c.3317G>A (p.Arg1106Gln) rs561255614 0.00014
NM_020822.3(KCNT1):c.708C>T (p.Ile236=) rs148038658 0.00014
NM_007254.4(PNKP):c.1257C>T (p.Val419=) rs369003964 0.00013
NM_007254.4(PNKP):c.730G>C (p.Gly244Arg) rs562480894 0.00013
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=) rs189186909 0.00013
NM_015192.4(PLCB1):c.2308+11dup rs753502275 0.00013
NM_015192.4(PLCB1):c.724G>A (p.Val242Ile) rs200567140 0.00013
NM_020708.5(SLC12A5):c.481+11G>A rs191849612 0.00013
NM_015192.4(PLCB1):c.1761A>G (p.Val587=) rs143755415 0.00012
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser) rs150241349 0.00012
NM_020708.5(SLC12A5):c.1977C>A (p.Arg659=) rs1397496364 0.00012
NM_020708.5(SLC12A5):c.273G>A (p.Pro91=) rs183377866 0.00012
NM_020822.3(KCNT1):c.1149C>T (p.Ile383=) rs144977019 0.00012
NM_020822.3(KCNT1):c.1827C>T (p.Asn609=) rs142534422 0.00012
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=) rs371135108 0.00012
NM_020822.3(KCNT1):c.477C>G (p.Ser159=) rs200157100 0.00012
NM_007254.4(PNKP):c.579-4G>A rs371834726 0.00011
NM_007254.4(PNKP):c.816+14C>T rs376371644 0.00011
NM_015192.4(PLCB1):c.1539C>T (p.Asp513=) rs199565459 0.00011
NM_015192.4(PLCB1):c.2868G>A (p.Gln956=) rs149312175 0.00011
NM_020708.5(SLC12A5):c.2499C>T (p.His833=) rs371925559 0.00011
NM_020708.5(SLC12A5):c.279+11C>T rs367964567 0.00011
NM_020708.5(SLC12A5):c.834C>T (p.Ala278=) rs138250479 0.00011
NM_020822.3(KCNT1):c.1152C>T (p.Asp384=) rs763854215 0.00011
NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) rs372250372 0.00011
NM_020822.3(KCNT1):c.2673C>T (p.Ala891=) rs373503298 0.00011
NM_020822.3(KCNT1):c.2898C>T (p.Ala966=) rs762968242 0.00011
NM_007254.4(PNKP):c.885C>T (p.Ala295=) rs763725051 0.00010
NM_007254.4(PNKP):c.936+16C>G rs369723968 0.00010
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser) rs373922574 0.00010
NM_020708.5(SLC12A5):c.2430C>T (p.Asn810=) rs540937956 0.00010
NM_020822.3(KCNT1):c.1725C>T (p.Tyr575=) rs373520472 0.00010
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=) rs757811625 0.00010
NM_020822.3(KCNT1):c.2051C>T (p.Thr684Met) rs377506738 0.00010
NM_020822.3(KCNT1):c.601-12G>A rs765238793 0.00010
NM_007254.4(PNKP):c.151+11C>T rs587781113 0.00009
NM_007254.4(PNKP):c.151+18T>G rs55756709 0.00009
NM_007254.4(PNKP):c.579-18G>A rs199541652 0.00009
NM_007254.4(PNKP):c.822C>T (p.Asn274=) rs780677866 0.00009
NM_020708.5(SLC12A5):c.1148C>T (p.Thr383Ile) rs201727005 0.00009
NM_020708.5(SLC12A5):c.1401C>T (p.Gly467=) rs545847050 0.00009
NM_020708.5(SLC12A5):c.2840C>G (p.Ala947Gly) rs199934904 0.00009
NM_020822.3(KCNT1):c.1431C>T (p.Ala477=) rs375534850 0.00009
NM_020822.3(KCNT1):c.151G>C (p.Gly51Arg) rs148808978 0.00009
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=) rs376314779 0.00009
NM_020822.3(KCNT1):c.2187C>T (p.Ser729=) rs150222138 0.00009
NM_020822.3(KCNT1):c.2527G>A (p.Asp843Asn) rs376758763 0.00009
NM_020822.3(KCNT1):c.3036C>T (p.Ile1012=) rs201120894 0.00009
NM_020822.3(KCNT1):c.981G>A (p.Ser327=) rs373317695 0.00009
NM_015192.4(PLCB1):c.100-17T>C rs370810694 0.00008
NM_020708.5(SLC12A5):c.2182-11C>A rs369990409 0.00008
NM_020822.3(KCNT1):c.1323C>T (p.Asp441=) rs368477306 0.00008
NM_020822.3(KCNT1):c.1542C>T (p.Tyr514=) rs371913299 0.00008
NM_020822.3(KCNT1):c.2502C>T (p.Ile834=) rs139958448 0.00008
NM_020822.3(KCNT1):c.2730-15G>A rs539244041 0.00008
NM_020822.3(KCNT1):c.3063G>A (p.Thr1021=) rs760974671 0.00008
NM_020822.3(KCNT1):c.3138C>T (p.His1046=) rs138533589 0.00008
NM_020822.3(KCNT1):c.3255C>T (p.Thr1085=) rs371632359 0.00008
NM_020822.3(KCNT1):c.3387C>T (p.Ala1129=) rs372410150 0.00008
NM_020822.3(KCNT1):c.434+10G>A rs187872786 0.00008
NM_007254.4(PNKP):c.1008C>T (p.Phe336=) rs1474446608 0.00007
NM_007254.4(PNKP):c.1298+19C>T rs541129252 0.00007
NM_007254.4(PNKP):c.1515A>G (p.Leu505=) rs369748873 0.00007
NM_015192.4(PLCB1):c.1275G>A (p.Ala425=) rs143366963 0.00007
NM_015192.4(PLCB1):c.178-16C>T rs758638401 0.00007
NM_015192.4(PLCB1):c.2209-19T>C rs765382131 0.00007
NM_015192.4(PLCB1):c.3189-14C>T rs777913912 0.00007
NM_020708.5(SLC12A5):c.117G>A (p.Glu39=) rs751664445 0.00007
NM_020708.5(SLC12A5):c.318G>A (p.Pro106=) rs200144342 0.00007
NM_020708.5(SLC12A5):c.36T>C (p.Asp12=) rs998267168 0.00007
NM_020708.5(SLC12A5):c.630C>T (p.Ala210=) rs913680770 0.00007
NM_020822.3(KCNT1):c.1036-12T>G rs113079797 0.00007
NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs) rs796214553 0.00007
NM_020822.3(KCNT1):c.1443C>T (p.Phe481=) rs576446992 0.00007
NM_020822.3(KCNT1):c.1694G>A (p.Arg565His) rs769855266 0.00007
NM_020822.3(KCNT1):c.1769+8C>T rs371287985 0.00007
NM_020822.3(KCNT1):c.1770-15G>A rs746828967 0.00007
NM_020822.3(KCNT1):c.2856T>C (p.Asn952=) rs147671362 0.00007
NM_020822.3(KCNT1):c.2944-17C>T rs1255015458 0.00007
NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His) rs776538404 0.00007
NM_020822.3(KCNT1):c.435-12G>C rs367739886 0.00007
NM_020822.3(KCNT1):c.480C>T (p.Ser160=) rs374042509 0.00007
NM_020822.3(KCNT1):c.625C>T (p.Arg209Cys) rs568539413 0.00007
NM_020822.3(KCNT1):c.851C>T (p.Thr284Met) rs376583438 0.00007
NM_020822.3(KCNT1):c.854+9C>T rs370686981 0.00007
NM_007254.4(PNKP):c.1062C>T (p.Leu354=) rs142830558 0.00006
NM_007254.4(PNKP):c.1098G>A (p.Glu366=) rs755340060 0.00006
NM_007254.4(PNKP):c.456G>A (p.Lys152=) rs752339576 0.00006
NM_007254.4(PNKP):c.817-20C>G rs201778535 0.00006
NM_015192.4(PLCB1):c.1167+14A>G rs563791103 0.00006
NM_015192.4(PLCB1):c.1188G>A (p.Ala396=) rs202109404 0.00006
NM_015192.4(PLCB1):c.1888+9A>C rs371050904 0.00006
NM_015192.4(PLCB1):c.2028C>T (p.Asn676=) rs142083540 0.00006
NM_015192.4(PLCB1):c.2112G>A (p.Leu704=) rs139095432 0.00006
NM_015192.4(PLCB1):c.2982C>T (p.Leu994=) rs770134240 0.00006
NM_015192.4(PLCB1):c.695+10C>G rs763454386 0.00006
NM_015192.4(PLCB1):c.912C>T (p.Asn304=) rs374061975 0.00006
NM_015192.4(PLCB1):c.975T>C (p.Tyr325=) rs372723242 0.00006
NM_020708.5(SLC12A5):c.1317C>T (p.Ile439=) rs10460627 0.00006
NM_020708.5(SLC12A5):c.1788-9C>T rs773585521 0.00006
NM_020708.5(SLC12A5):c.1936C>A (p.Arg646=) rs771263913 0.00006
NM_020708.5(SLC12A5):c.2012+14G>T rs1180929890 0.00006
NM_020708.5(SLC12A5):c.2649C>T (p.Arg883=) rs746516978 0.00006
NM_020708.5(SLC12A5):c.279+12G>A rs373707676 0.00006
NM_020708.5(SLC12A5):c.2911-19C>T rs202150692 0.00006
NM_020708.5(SLC12A5):c.2961G>A (p.Pro987=) rs550491448 0.00006
NM_020708.5(SLC12A5):c.3126-15T>C rs199825251 0.00006
NM_020708.5(SLC12A5):c.939G>C (p.Val313=) rs149300952 0.00006
NM_020822.3(KCNT1):c.1173C>T (p.Asn391=) rs374015551 0.00006
NM_020822.3(KCNT1):c.1327A>T (p.Met443Leu) rs201908490 0.00006
NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser) rs200137341 0.00006
NM_020822.3(KCNT1):c.1962C>T (p.His654=) rs141759469 0.00006
NM_020822.3(KCNT1):c.2152G>A (p.Asp718Asn) rs777958749 0.00006
NM_020822.3(KCNT1):c.2670C>T (p.Ser890=) rs765403435 0.00006
NM_020822.3(KCNT1):c.273C>T (p.Tyr91=) rs770619151 0.00006
NM_020822.3(KCNT1):c.279C>T (p.Asn93=) rs183022730 0.00006
NM_020822.3(KCNT1):c.3015G>T (p.Gly1005=) rs368875875 0.00006
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=) rs141802876 0.00006
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291 0.00006
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu) rs1003586835 0.00006
NM_020822.3(KCNT1):c.335-4G>A rs372339395 0.00006
NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309 0.00006
NM_020822.3(KCNT1):c.3575C>T (p.Pro1192Leu) rs147654995 0.00006
NM_020822.3(KCNT1):c.3669G>C (p.Ser1223=) rs556454353 0.00006
NM_020822.3(KCNT1):c.533C>T (p.Ala178Val) rs141961737 0.00006
NM_020822.3(KCNT1):c.62G>T (p.Gly21Val) rs368870705 0.00006
NM_020822.3(KCNT1):c.744G>A (p.Ala248=) rs145697148 0.00006
NM_020822.3(KCNT1):c.963G>A (p.Thr321=) rs760300415 0.00006
NM_007254.4(PNKP):c.1126+7G>A rs368201882 0.00005
NM_007254.4(PNKP):c.1387-48_1387-32del rs537912514 0.00005
NM_007254.4(PNKP):c.1448+12G>A rs770634541 0.00005
NM_007254.4(PNKP):c.351T>C (p.Asp117=) rs545664057 0.00005
NM_015192.4(PLCB1):c.114T>C (p.Val38=) rs146304198 0.00005
NM_015192.4(PLCB1):c.1470C>T (p.Tyr490=) rs13042803 0.00005
NM_015192.4(PLCB1):c.1536C>T (p.Asp512=) rs544749418 0.00005
NM_015192.4(PLCB1):c.1763+17G>A rs377762613 0.00005
NM_015192.4(PLCB1):c.1767T>C (p.Tyr589=) rs554169035 0.00005
NM_015192.4(PLCB1):c.2091G>A (p.Val697=) rs556016271 0.00005
NM_020708.5(SLC12A5):c.1128G>A (p.Ser376=) rs6073997 0.00005
NM_020708.5(SLC12A5):c.1140C>T (p.Ala380=) rs767985242 0.00005
NM_020708.5(SLC12A5):c.2289C>T (p.Leu763=) rs138144890 0.00005
NM_020822.3(KCNT1):c.1035+17C>T rs375391930 0.00005
NM_020822.3(KCNT1):c.1337+7G>A rs374975940 0.00005
NM_020822.3(KCNT1):c.1402-5G>A rs573411729 0.00005
NM_020822.3(KCNT1):c.1402-6C>T rs755796820 0.00005
NM_020822.3(KCNT1):c.1689C>T (p.His563=) rs765616016 0.00005
NM_020822.3(KCNT1):c.2008+20C>T rs371649094 0.00005
NM_020822.3(KCNT1):c.2349+12G>A rs769180254 0.00005
NM_020822.3(KCNT1):c.2841+11C>T rs901557898 0.00005
NM_020822.3(KCNT1):c.309G>T (p.Leu103=) rs767894239 0.00005
NM_020822.3(KCNT1):c.335-5C>T rs745658927 0.00005
NM_020822.3(KCNT1):c.3437G>A (p.Arg1146His) rs368339692 0.00005
NM_020822.3(KCNT1):c.408C>T (p.Leu136=) rs370046449 0.00005
NM_020822.3(KCNT1):c.77C>T (p.Thr26Ile) rs143015526 0.00005
NM_007254.4(PNKP):c.1126+14T>G rs971508207 0.00004
NM_007254.4(PNKP):c.1188+17G>A rs545237601 0.00004
NM_007254.4(PNKP):c.1189-11C>T rs756362768 0.00004
NM_007254.4(PNKP):c.1329C>T (p.Val443=) rs796052846 0.00004
NM_007254.4(PNKP):c.1387-40_1387-39del rs758626895 0.00004
NM_007254.4(PNKP):c.1401G>A (p.Thr467=) rs374547164 0.00004
NM_007254.4(PNKP):c.1449-19C>A rs772322533 0.00004
NM_007254.4(PNKP):c.199-15C>T rs201254691 0.00004
NM_007254.4(PNKP):c.264G>T (p.Gly88=) rs766589333 0.00004
NM_007254.4(PNKP):c.312G>A (p.Leu104=) rs375257269 0.00004
NM_007254.4(PNKP):c.39G>A (p.Glu13=) rs565350498 0.00004
NM_007254.4(PNKP):c.579-19C>T rs368764301 0.00004
NM_007254.4(PNKP):c.636+13G>A rs745577158 0.00004
NM_007254.4(PNKP):c.937-16C>T rs755267515 0.00004
NM_015192.4(PLCB1):c.1168-16G>A rs369578844 0.00004
NM_015192.4(PLCB1):c.1242T>C (p.His414=) rs747192374 0.00004
NM_015192.4(PLCB1):c.138C>T (p.Asp46=) rs368510730 0.00004
NM_015192.4(PLCB1):c.1545T>C (p.Asp515=) rs201832361 0.00004
NM_015192.4(PLCB1):c.1764-6G>C rs753832760 0.00004
NM_015192.4(PLCB1):c.2656+7C>T rs370608944 0.00004
NM_015192.4(PLCB1):c.2930+8C>T rs767172522 0.00004
NM_015192.4(PLCB1):c.2979C>T (p.Asp993=) rs148394888 0.00004
NM_015192.4(PLCB1):c.3009A>G (p.Gln1003=) rs761097244 0.00004
NM_015192.4(PLCB1):c.369A>G (p.Gln123=) rs755560918 0.00004
NM_015192.4(PLCB1):c.852C>T (p.Leu284=) rs147648227 0.00004
NM_020708.5(SLC12A5):c.1008C>T (p.Thr336=) rs367965141 0.00004
NM_020708.5(SLC12A5):c.1237+17A>G rs778108662 0.00004
NM_020708.5(SLC12A5):c.1416C>T (p.Gly472=) rs755729176 0.00004
NM_020708.5(SLC12A5):c.1665C>T (p.Asp555=) rs377347592 0.00004
NM_020708.5(SLC12A5):c.1773T>C (p.Phe591=) rs567520830 0.00004
NM_020708.5(SLC12A5):c.1908-19T>C rs1306943724 0.00004
NM_020708.5(SLC12A5):c.2601T>C (p.Asn867=) rs374813251 0.00004
NM_020708.5(SLC12A5):c.3126-6C>A rs372120376 0.00004
NM_020708.5(SLC12A5):c.3228G>A (p.Gly1076=) rs767829797 0.00004
NM_020708.5(SLC12A5):c.372G>T (p.Val124=) rs750134396 0.00004
NM_020708.5(SLC12A5):c.42A>G (p.Gly14=) rs1464795415 0.00004
NM_020708.5(SLC12A5):c.699C>T (p.Tyr233=) rs200570265 0.00004
NM_020822.3(KCNT1):c.1047C>T (p.Leu349=) rs370414453 0.00004
NM_020822.3(KCNT1):c.1053C>T (p.Tyr351=) rs973806258 0.00004
NM_020822.3(KCNT1):c.110+11del rs1464834508 0.00004
NM_020822.3(KCNT1):c.110+12T>G rs1186799198 0.00004
NM_020822.3(KCNT1):c.1119C>T (p.His373=) rs1052932341 0.00004
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe) rs780875110 0.00004
NM_020822.3(KCNT1):c.1201-5G>A rs766093946 0.00004
NM_020822.3(KCNT1):c.1368C>T (p.Leu456=) rs373948466 0.00004
NM_020822.3(KCNT1):c.1497C>T (p.His499=) rs754670800 0.00004
NM_020822.3(KCNT1):c.1620-14G>A rs754311028 0.00004
NM_020822.3(KCNT1):c.1833G>A (p.Gly611=) rs755787639 0.00004
NM_020822.3(KCNT1):c.1946C>T (p.Ser649Leu) rs747671066 0.00004
NM_020822.3(KCNT1):c.1983C>T (p.Pro661=) rs533528985 0.00004
NM_020822.3(KCNT1):c.1996A>T (p.Ile666Phe) rs376231681 0.00004
NM_020822.3(KCNT1):c.2008+18C>T rs370292952 0.00004
NM_020822.3(KCNT1):c.2008+8G>A rs759334176 0.00004
NM_020822.3(KCNT1):c.2009-18C>T rs1457591989 0.00004
NM_020822.3(KCNT1):c.2211G>A (p.Thr737=) rs148928475 0.00004
NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) rs144118960 0.00004
NM_020822.3(KCNT1):c.231C>T (p.Asp77=) rs370998066 0.00004
NM_020822.3(KCNT1):c.2388C>T (p.Tyr796=) rs530678159 0.00004
NM_020822.3(KCNT1):c.2523-6C>T rs992509278 0.00004
NM_020822.3(KCNT1):c.2594+17C>T rs370941241 0.00004
NM_020822.3(KCNT1):c.2594+18G>A rs374664484 0.00004
NM_020822.3(KCNT1):c.2594+7C>T rs545094921 0.00004
NM_020822.3(KCNT1):c.2757G>A (p.Thr919=) rs775752475 0.00004
NM_020822.3(KCNT1):c.2931A>G (p.Thr977=) rs369519989 0.00004
NM_020822.3(KCNT1):c.2943+7G>A rs375869783 0.00004
NM_020822.3(KCNT1):c.2944-18C>G rs1361654206 0.00004
NM_020822.3(KCNT1):c.3111C>T (p.Pro1037=) rs778321915 0.00004
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu) rs375749415 0.00004
NM_020822.3(KCNT1):c.3163G>A (p.Asp1055Asn) rs537379253 0.00004
NM_020822.3(KCNT1):c.3240C>T (p.Gly1080=) rs766038759 0.00004
NM_020822.3(KCNT1):c.3245G>A (p.Arg1082His) rs760151844 0.00004
NM_020822.3(KCNT1):c.3285C>T (p.Gly1095=) rs778877333 0.00004
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214 0.00004
NM_020822.3(KCNT1):c.3381G>A (p.Ala1127=) rs762220012 0.00004
NM_020822.3(KCNT1):c.3384G>A (p.Ala1128=) rs760868141 0.00004
NM_020822.3(KCNT1):c.3450C>T (p.Ser1150=) rs757210594 0.00004
NM_020822.3(KCNT1):c.3504C>T (p.Asp1168=) rs761504279 0.00004
NM_020822.3(KCNT1):c.3579T>A (p.Ser1193Arg) rs142340167 0.00004
NM_020822.3(KCNT1):c.3588-4G>A rs754639389 0.00004
NM_020822.3(KCNT1):c.601-20T>C rs774722496 0.00004
NM_020822.3(KCNT1):c.690G>A (p.Pro230=) rs565506288 0.00004
NM_020822.3(KCNT1):c.759+7C>T rs779833209 0.00004
NM_007254.4(PNKP):c.1020C>T (p.Ala340=) rs745968911 0.00003
NM_007254.4(PNKP):c.1029+20G>T rs1239545577 0.00003
NM_007254.4(PNKP):c.1030-9C>T rs368699840 0.00003
NM_007254.4(PNKP):c.1191C>T (p.Asp397=) rs376011384 0.00003
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) rs747244348 0.00003
NM_007254.4(PNKP):c.1386+19G>T rs1057523595 0.00003
NM_007254.4(PNKP):c.1482C>T (p.Gly494=) rs60279874 0.00003
NM_007254.4(PNKP):c.1513C>T (p.Leu505=) rs201661864 0.00003
NM_007254.4(PNKP):c.327C>G (p.Thr109=) rs749579842 0.00003
NM_007254.4(PNKP):c.366C>T (p.Thr122=) rs145274731 0.00003
NM_007254.4(PNKP):c.403C>T (p.Leu135=) rs766739774 0.00003
NM_007254.4(PNKP):c.789G>A (p.Thr263=) rs768661843 0.00003
NM_007254.4(PNKP):c.817-12C>T rs369567366 0.00003
NM_007254.4(PNKP):c.834C>T (p.Pro278=) rs372595462 0.00003
NM_015192.4(PLCB1):c.1167+10A>G rs745755417 0.00003
NM_015192.4(PLCB1):c.1296T>C (p.Phe432=) rs781444977 0.00003
NM_015192.4(PLCB1):c.1336-5A>G rs752723995 0.00003
NM_015192.4(PLCB1):c.1763+9G>T rs765638834 0.00003
NM_015192.4(PLCB1):c.2328A>G (p.Leu776=) rs145778961 0.00003
NM_015192.4(PLCB1):c.2742G>A (p.Lys914=) rs776762609 0.00003
NM_015192.4(PLCB1):c.2930+15T>C rs749168952 0.00003
NM_015192.4(PLCB1):c.345C>T (p.Ser115=) rs756143193 0.00003
NM_015192.4(PLCB1):c.54G>A (p.Val18=) rs762431785 0.00003
NM_015192.4(PLCB1):c.660C>T (p.Cys220=) rs184317533 0.00003
NM_015192.4(PLCB1):c.78C>A (p.Thr26=) rs553711213 0.00003
NM_015192.4(PLCB1):c.99+14C>T rs370355249 0.00003
NM_015192.4(PLCB1):c.99+15G>A rs372562880 0.00003
NM_020708.5(SLC12A5):c.1337-8T>C rs374330170 0.00003
NM_020708.5(SLC12A5):c.2028G>A (p.Val676=) rs141236407 0.00003
NM_020708.5(SLC12A5):c.2330G>A (p.Arg777His) rs749336515 0.00003
NM_020708.5(SLC12A5):c.2378-14T>C rs373346348 0.00003
NM_020708.5(SLC12A5):c.2790C>T (p.Ile930=) rs770662324 0.00003
NM_020708.5(SLC12A5):c.2862C>T (p.Asn954=) rs754601939 0.00003
NM_020708.5(SLC12A5):c.3246T>C (p.Asn1082=) rs750376604 0.00003
NM_020708.5(SLC12A5):c.339C>T (p.Gly113=) rs145327140 0.00003
NM_020708.5(SLC12A5):c.537C>T (p.Ala179=) rs200444155 0.00003
NM_020708.5(SLC12A5):c.855-19C>T rs372069124 0.00003
NM_020822.3(KCNT1):c.111-8G>A rs779128853 0.00003
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649 0.00003
NM_020822.3(KCNT1):c.1122G>T (p.Val374=) rs774643792 0.00003
NM_020822.3(KCNT1):c.1201-16T>C rs1057521711 0.00003
NM_020822.3(KCNT1):c.130G>T (p.Gly44Cys) rs773228285 0.00003
NM_020822.3(KCNT1):c.1338-4G>A rs963826986 0.00003
NM_020822.3(KCNT1):c.1395G>A (p.Thr465=) rs777870376 0.00003
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln) rs537722828 0.00003
NM_020822.3(KCNT1):c.1449C>T (p.Pro483=) rs765534465 0.00003
NM_020822.3(KCNT1):c.1593C>T (p.Thr531=) rs749641549 0.00003
NM_020822.3(KCNT1):c.1620-15C>T rs766797836 0.00003
NM_020822.3(KCNT1):c.1623G>A (p.Glu541=) rs758644634 0.00003
NM_020822.3(KCNT1):c.1637C>T (p.Pro546Leu) rs770986306 0.00003
NM_020822.3(KCNT1):c.1677C>T (p.Asn559=) rs1028802868 0.00003
NM_020822.3(KCNT1):c.1680G>A (p.Glu560=) rs143983055 0.00003
NM_020822.3(KCNT1):c.1806C>T (p.Asp602=) rs1060505001 0.00003
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro) rs756570347 0.00003
NM_020822.3(KCNT1):c.2076C>T (p.Gly692=) rs1267885761 0.00003
NM_020822.3(KCNT1):c.2097G>A (p.Thr699=) rs762620377 0.00003
NM_020822.3(KCNT1):c.2109G>T (p.Ser703=) rs767200583 0.00003
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly) rs1360863995 0.00003
NM_020822.3(KCNT1):c.2271G>A (p.Ser757=) rs374981764 0.00003
NM_020822.3(KCNT1):c.233C>T (p.Pro78Leu) rs771096934 0.00003
NM_020822.3(KCNT1):c.237C>T (p.Ser79=) rs749179872 0.00003
NM_020822.3(KCNT1):c.2526C>T (p.Pro842=) rs776258175 0.00003
NM_020822.3(KCNT1):c.2706C>T (p.Ile902=) rs934780855 0.00003
NM_020822.3(KCNT1):c.2729+16G>A rs373773787 0.00003
NM_020822.3(KCNT1):c.2729+19G>A rs369987473 0.00003
NM_020822.3(KCNT1):c.2841+18G>A rs763792397 0.00003
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=) rs141695705 0.00003
NM_020822.3(KCNT1):c.3157-17G>A rs753593622 0.00003
NM_020822.3(KCNT1):c.3252C>T (p.Gly1084=) rs948170691 0.00003
NM_020822.3(KCNT1):c.3274C>T (p.Arg1092Cys) rs1060503695 0.00003
NM_020822.3(KCNT1):c.3275G>A (p.Arg1092His) rs369576806 0.00003
NM_020822.3(KCNT1):c.3297C>T (p.Pro1099=) rs759060691 0.00003
NM_020822.3(KCNT1):c.3368A>G (p.Gln1123Arg) rs775015763 0.00003
NM_020822.3(KCNT1):c.3410G>A (p.Arg1137His) rs568818508 0.00003
NM_020822.3(KCNT1):c.600+9C>T rs1287458024 0.00003
NM_020822.3(KCNT1):c.60G>A (p.Gly20=) rs777349172 0.00003
NM_020822.3(KCNT1):c.732G>A (p.Leu244=) rs759580596 0.00003
NM_007254.4(PNKP):c.1002C>T (p.Ala334=) rs748042567 0.00002
NM_007254.4(PNKP):c.1030-5C>T rs374745816 0.00002
NM_007254.4(PNKP):c.1095G>A (p.Pro365=) rs139540159 0.00002
NM_007254.4(PNKP):c.1127-7C>T rs772557014 0.00002
NM_007254.4(PNKP):c.1158C>G (p.Leu386=) rs373766090 0.00002
NM_007254.4(PNKP):c.1188+12C>T rs780736753 0.00002
NM_007254.4(PNKP):c.130C>A (p.Arg44=) rs374921362 0.00002
NM_007254.4(PNKP):c.1344C>T (p.Phe448=) rs762529581 0.00002
NM_007254.4(PNKP):c.1386+43G>A rs775229994 0.00002
NM_007254.4(PNKP):c.1471C>T (p.Leu491=) rs779306097 0.00002
NM_007254.4(PNKP):c.1554C>T (p.Phe518=) rs541143958 0.00002
NM_007254.4(PNKP):c.1565G>A (p.Ter522=) rs778165913 0.00002
NM_007254.4(PNKP):c.267G>A (p.Val89=) rs531640505 0.00002
NM_007254.4(PNKP):c.357G>A (p.Pro119=) rs766826936 0.00002
NM_007254.4(PNKP):c.498+15G>A rs765136807 0.00002
NM_007254.4(PNKP):c.588C>T (p.Tyr196=) rs745459391 0.00002
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg) rs144257114 0.00002
NM_007254.4(PNKP):c.687C>T (p.Ala229=) rs776236270 0.00002
NM_007254.4(PNKP):c.937-10C>T rs376801468 0.00002
NM_007254.4(PNKP):c.948C>T (p.Asn316=) rs1173052486 0.00002
NM_015192.4(PLCB1):c.1009+7A>T rs777208922 0.00002
NM_015192.4(PLCB1):c.1168-17T>A rs756936385 0.00002
NM_015192.4(PLCB1):c.1336-19T>A rs765872972 0.00002
NM_015192.4(PLCB1):c.1431C>T (p.Ser477=) rs758504402 0.00002
NM_015192.4(PLCB1):c.1542C>T (p.Asp514=) rs781714752 0.00002
NM_015192.4(PLCB1):c.1582-8A>G rs775526031 0.00002
NM_015192.4(PLCB1):c.231C>T (p.His77=) rs773937907 0.00002
NM_015192.4(PLCB1):c.2355G>A (p.Thr785=) rs763065886 0.00002
NM_015192.4(PLCB1):c.2382A>G (p.Glu794=) rs762411079 0.00002
NM_015192.4(PLCB1):c.2413+7A>G rs369440734 0.00002
NM_015192.4(PLCB1):c.2916G>A (p.Lys972=) rs751967802 0.00002
NM_015192.4(PLCB1):c.2934G>A (p.Ser978=) rs748740359 0.00002
NM_015192.4(PLCB1):c.2946C>T (p.Ser982=) rs369387650 0.00002
NM_015192.4(PLCB1):c.309C>A (p.Ile103=) rs770498816 0.00002
NM_015192.4(PLCB1):c.3477C>T (p.Leu1159=) rs774970817 0.00002
NM_015192.4(PLCB1):c.518+16A>G rs373931059 0.00002
NM_015192.4(PLCB1):c.816A>G (p.Gln272=) rs773100834 0.00002
NM_015192.4(PLCB1):c.99+20G>A rs540693889 0.00002
NM_015192.4(PLCB1):c.990G>A (p.Ser330=) rs375950955 0.00002
NM_020708.5(SLC12A5):c.1005C>T (p.Phe335=) rs755725158 0.00002
NM_020708.5(SLC12A5):c.1688+7G>A rs192325760 0.00002
NM_020708.5(SLC12A5):c.1972T>C (p.Leu658=) rs1448280832 0.00002
NM_020708.5(SLC12A5):c.2012+17C>T rs532073254 0.00002
NM_020708.5(SLC12A5):c.2259C>T (p.Gly753=) rs764791575 0.00002
NM_020708.5(SLC12A5):c.2481C>T (p.Asp827=) rs368618520 0.00002
NM_020708.5(SLC12A5):c.2548-17C>T rs1478879529 0.00002
NM_020708.5(SLC12A5):c.2548-9C>T rs766436506 0.00002
NM_020708.5(SLC12A5):c.2841C>T (p.Ala947=) rs574591288 0.00002
NM_020708.5(SLC12A5):c.2967A>G (p.Pro989=) rs1441127714 0.00002
NM_020708.5(SLC12A5):c.297C>A (p.Thr99=) rs776585463 0.00002
NM_020708.5(SLC12A5):c.3003G>A (p.Pro1001=) rs757482980 0.00002
NM_020708.5(SLC12A5):c.3110+18A>C rs202018911 0.00002
NM_020708.5(SLC12A5):c.3259+18T>C rs754552673 0.00002
NM_020708.5(SLC12A5):c.3321C>T (p.Gly1107=) rs1413192522 0.00002
NM_020708.5(SLC12A5):c.438G>A (p.Thr146=) rs1345353699 0.00002
NM_020708.5(SLC12A5):c.612+15G>A rs764677515 0.00002
NM_020822.3(KCNT1):c.1038C>T (p.Phe346=) rs767434859 0.00002
NM_020822.3(KCNT1):c.104C>T (p.Ala35Val) rs772080195 0.00002
NM_020822.3(KCNT1):c.1077A>G (p.Ser359=) rs777409717 0.00002
NM_020822.3(KCNT1):c.1158C>G (p.Leu386=) rs749974440 0.00002
NM_020822.3(KCNT1):c.1201-13G>A rs576149390 0.00002
NM_020822.3(KCNT1):c.1201-14C>T rs767283074 0.00002
NM_020822.3(KCNT1):c.1230G>A (p.Thr410=) rs778178642 0.00002
NM_020822.3(KCNT1):c.1359C>T (p.Cys453=) rs1455107112 0.00002
NM_020822.3(KCNT1):c.147C>T (p.Thr49=) rs751274694 0.00002
NM_020822.3(KCNT1):c.1511-15C>T rs1233580407 0.00002
NM_020822.3(KCNT1):c.1515C>T (p.His505=) rs148302564 0.00002
NM_020822.3(KCNT1):c.1554G>A (p.Ala518=) rs756721305 0.00002
NM_020822.3(KCNT1):c.1563C>T (p.Cys521=) rs377263803 0.00002
NM_020822.3(KCNT1):c.15C>T (p.Asp5=) rs771669111 0.00002
NM_020822.3(KCNT1):c.1619+11C>T rs773278543 0.00002
NM_020822.3(KCNT1):c.16G>A (p.Gly6Arg) rs773874266 0.00002
NM_020822.3(KCNT1):c.1758C>T (p.His586=) rs142760483 0.00002
NM_020822.3(KCNT1):c.1759G>A (p.Ala587Thr) rs144421853 0.00002
NM_020822.3(KCNT1):c.1803G>A (p.Glu601=) rs376892911 0.00002
NM_020822.3(KCNT1):c.1854C>T (p.Ala618=) rs1208098376 0.00002
NM_020822.3(KCNT1):c.1890G>A (p.Glu630=) rs1326023054 0.00002
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) rs532620254 0.00002
NM_020822.3(KCNT1):c.1947G>A (p.Ser649=) rs779903423 0.00002
NM_020822.3(KCNT1):c.2008+9G>T rs375088109 0.00002
NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser) rs550447485 0.00002
NM_020822.3(KCNT1):c.219G>A (p.Leu73=) rs758602991 0.00002
NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val) rs777479133 0.00002
NM_020822.3(KCNT1):c.2349+20C>T rs375666062 0.00002
NM_020822.3(KCNT1):c.2350-13C>T rs374333732 0.00002
NM_020822.3(KCNT1):c.2403G>A (p.Lys801=) rs761739057 0.00002
NM_020822.3(KCNT1):c.2460A>G (p.Pro820=) rs1219349050 0.00002
NM_020822.3(KCNT1):c.254+10G>C rs772892562 0.00002
NM_020822.3(KCNT1):c.2580G>A (p.Glu860=) rs763685503 0.00002
NM_020822.3(KCNT1):c.2595-8G>A rs779012524 0.00002
NM_020822.3(KCNT1):c.2649G>A (p.Val883=) rs766768602 0.00002
NM_020822.3(KCNT1):c.270C>T (p.Phe90=) rs930841801 0.00002
NM_020822.3(KCNT1):c.2712C>T (p.Asn904=) rs554237279 0.00002
NM_020822.3(KCNT1):c.2730-16C>T rs571787446 0.00002
NM_020822.3(KCNT1):c.2730-3C>T rs1193875216 0.00002
NM_020822.3(KCNT1):c.2895C>T (p.Ala965=) rs776550763 0.00002
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=) rs764574987 0.00002
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met) rs553389226 0.00002
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys) rs776232246 0.00002
NM_020822.3(KCNT1):c.3247G>A (p.Ala1083Thr) rs917893164 0.00002
NM_020822.3(KCNT1):c.3320G>A (p.Arg1107His) rs756256138 0.00002
NM_020822.3(KCNT1):c.3376C>T (p.Arg1126Trp) rs763400879 0.00002
NM_020822.3(KCNT1):c.3377G>A (p.Arg1126Gln) rs769135500 0.00002
NM_020822.3(KCNT1):c.3380C>T (p.Ala1127Val) rs774589071 0.00002
NM_020822.3(KCNT1):c.3393G>A (p.Glu1131=) rs781111074 0.00002
NM_020822.3(KCNT1):c.3502+10C>T rs771187830 0.00002
NM_020822.3(KCNT1):c.3502G>A (p.Asp1168Asn) rs747317425 0.00002
NM_020822.3(KCNT1):c.3521A>G (p.Gln1174Arg) rs761270493 0.00002
NM_020822.3(KCNT1):c.626G>A (p.Arg209His) rs756952430 0.00002
NM_020822.3(KCNT1):c.762T>C (p.Asn254=) rs1481356544 0.00002
NM_020822.3(KCNT1):c.843C>T (p.Leu281=) rs780294486 0.00002
NM_020822.3(KCNT1):c.852G>A (p.Thr284=) rs773023899 0.00002
NM_020822.3(KCNT1):c.854+14G>A rs367694801 0.00002
NM_020822.3(KCNT1):c.879G>A (p.Glu293=) rs557092185 0.00002
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496 0.00002
NM_020822.3(KCNT1):c.93C>T (p.Asp31=) rs145033597 0.00002
NM_020822.3(KCNT1):c.951C>T (p.Tyr317=) rs747685419 0.00002
NM_020822.3(KCNT1):c.958G>A (p.Val320Ile) rs773718324 0.00002
NM_020822.3(KCNT1):c.999C>T (p.Ile333=) rs764327750 0.00002
NM_007254.4(PNKP):c.1029+16G>A rs982882766 0.00001
NM_007254.4(PNKP):c.1050G>A (p.Gly350=) rs1194208521 0.00001
NM_007254.4(PNKP):c.1056C>G (p.Leu352=) rs767011520 0.00001
NM_007254.4(PNKP):c.1074G>A (p.Arg358=) rs771883677 0.00001
NM_007254.4(PNKP):c.1107C>T (p.Val369=) rs1233198739 0.00001
NM_007254.4(PNKP):c.1125G>A (p.Gly375=) rs727504101 0.00001
NM_007254.4(PNKP):c.1126+10C>T rs1459307960 0.00001
NM_007254.4(PNKP):c.1127-12C>T rs769293635 0.00001
NM_007254.4(PNKP):c.1127-6A>C rs936791908 0.00001
NM_007254.4(PNKP):c.1140C>T (p.Thr380=) rs780500233 0.00001
NM_007254.4(PNKP):c.1188+19C>T rs1484018266 0.00001
NM_007254.4(PNKP):c.1188+20G>A rs779991747 0.00001
NM_007254.4(PNKP):c.1189-10G>C rs1458942967 0.00001
NM_007254.4(PNKP):c.1189-15C>G rs1385478589 0.00001
NM_007254.4(PNKP):c.1200C>T (p.Gly400=) rs1188834887 0.00001
NM_007254.4(PNKP):c.1212C>T (p.Arg404=) rs775042023 0.00001
NM_007254.4(PNKP):c.1233A>G (p.Thr411=) rs1057522305 0.00001
NM_007254.4(PNKP):c.1239G>A (p.Leu413=) rs1488660891 0.00001
NM_007254.4(PNKP):c.1287G>A (p.Ala429=) rs1281900821 0.00001
NM_007254.4(PNKP):c.1287G>C (p.Ala429=) rs1281900821 0.00001
NM_007254.4(PNKP):c.1293C>T (p.Arg431=) rs143390809 0.00001
NM_007254.4(PNKP):c.1299-11T>C rs776421692 0.00001
NM_007254.4(PNKP):c.1299-5C>T rs1057522419 0.00001
NM_007254.4(PNKP):c.1299-9C>T rs1055654261 0.00001
NM_007254.4(PNKP):c.1323G>A (p.Ala441=) rs778138676 0.00001
NM_007254.4(PNKP):c.1383C>T (p.Asn461=) rs745974624 0.00001
NM_007254.4(PNKP):c.1386+46C>T rs767727372 0.00001
NM_007254.4(PNKP):c.1387-12T>C rs1446884587 0.00001
NM_007254.4(PNKP):c.1387-38G>A rs1568658400 0.00001
NM_007254.4(PNKP):c.1387-47dup rs747142211 0.00001
NM_007254.4(PNKP):c.1387-4A>C rs774527024 0.00001
NM_007254.4(PNKP):c.1387-8C>T rs541604147 0.00001
NM_007254.4(PNKP):c.1416C>T (p.Ile472=) rs1406190021 0.00001
NM_007254.4(PNKP):c.1448+16G>A rs1468792596 0.00001
NM_007254.4(PNKP):c.1448+7T>C rs775646444 0.00001
NM_007254.4(PNKP):c.152-18C>G rs779728115 0.00001
NM_007254.4(PNKP):c.1551G>A (p.Gln517=) rs771913446 0.00001
NM_007254.4(PNKP):c.199-13T>C rs557741670 0.00001
NM_007254.4(PNKP):c.199-18C>G rs769513325 0.00001
NM_007254.4(PNKP):c.24C>T (p.Gly8=) rs1057522863 0.00001
NM_007254.4(PNKP):c.267G>T (p.Val89=) rs531640505 0.00001
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln) rs570013652 0.00001
NM_007254.4(PNKP):c.499-7A>C rs909512959 0.00001
NM_007254.4(PNKP):c.579-5C>T rs767753048 0.00001
NM_007254.4(PNKP):c.585G>A (p.Leu195=) rs770100322 0.00001
NM_007254.4(PNKP):c.60C>T (p.Pro20=) rs1037495706 0.00001
NM_007254.4(PNKP):c.636+12C>T rs768950578 0.00001
NM_007254.4(PNKP):c.636+19C>G rs777095183 0.00001
NM_007254.4(PNKP):c.637-6C>T rs1421820816 0.00001
NM_007254.4(PNKP):c.657G>A (p.Gln219=) rs1332607261 0.00001
NM_007254.4(PNKP):c.723G>A (p.Glu241=) rs778970176 0.00001
NM_007254.4(PNKP):c.741C>T (p.Phe247=) rs767980504 0.00001
NM_007254.4(PNKP):c.744+8T>C rs587784370 0.00001
NM_007254.4(PNKP):c.759G>A (p.Thr253=) rs1057522106 0.00001
NM_007254.4(PNKP):c.762C>T (p.His254=) rs794727920 0.00001
NM_007254.4(PNKP):c.780G>A (p.Lys260=) rs1019739332 0.00001
NM_007254.4(PNKP):c.792C>T (p.Gly264=) rs1188638021 0.00001
NM_007254.4(PNKP):c.817-5C>T rs398124250 0.00001
NM_007254.4(PNKP):c.865+20T>C rs921950177 0.00001
NM_007254.4(PNKP):c.873C>T (p.Ala291=) rs749641401 0.00001
NM_007254.4(PNKP):c.921C>A (p.Ser307=) rs369985921 0.00001
NM_007254.4(PNKP):c.927C>A (p.Ala309=) rs375879639 0.00001
NM_007254.4(PNKP):c.936+10C>T rs750891370 0.00001
NM_007254.4(PNKP):c.936+8C>T rs763573850 0.00001
NM_007254.4(PNKP):c.942C>T (p.Ala314=) rs1268054245 0.00001
NM_007254.4(PNKP):c.960C>T (p.Pro320=) rs2074781901 0.00001
NM_007254.4(PNKP):c.969G>A (p.Thr323=) rs1257495491 0.00001
NM_007254.4(PNKP):c.987C>T (p.Leu329=) rs150644303 0.00001
NM_015192.4(PLCB1):c.1010-4A>G rs1208664909 0.00001
NM_015192.4(PLCB1):c.1014C>A (p.Gly338=) rs760110304 0.00001
NM_015192.4(PLCB1):c.1059C>T (p.Leu353=) rs765550076 0.00001
NM_015192.4(PLCB1):c.1128C>T (p.Ile376=) rs1450261335 0.00001
NM_015192.4(PLCB1):c.1167+11T>C rs756079683 0.00001
NM_015192.4(PLCB1):c.1168-16G>T rs369578844 0.00001
NM_015192.4(PLCB1):c.117T>C (p.Thr39=) rs371499786 0.00001
NM_015192.4(PLCB1):c.129G>A (p.Leu43=) rs374402412 0.00001
NM_015192.4(PLCB1):c.12T>C (p.Ala4=) rs757558506 0.00001
NM_015192.4(PLCB1):c.1321C>T (p.Leu441=) rs1332948192 0.00001
NM_015192.4(PLCB1):c.1446C>T (p.Leu482=) rs372481162 0.00001
NM_015192.4(PLCB1):c.1513+12G>T rs1466798040 0.00001
NM_015192.4(PLCB1):c.1513+7G>A rs748079484 0.00001
NM_015192.4(PLCB1):c.1582-10C>T rs770810162 0.00001
NM_015192.4(PLCB1):c.1584G>A (p.Gly528=) rs957436764 0.00001
NM_015192.4(PLCB1):c.1590T>C (p.Ala530=) rs751676929 0.00001
NM_015192.4(PLCB1):c.1668A>G (p.Glu556=) rs886056963 0.00001
NM_015192.4(PLCB1):c.1698A>G (p.Glu566=) rs774696079 0.00001
NM_015192.4(PLCB1):c.1710C>T (p.Phe570=) rs772233698 0.00001
NM_015192.4(PLCB1):c.1752G>C (p.Val584=) rs370361540 0.00001
NM_015192.4(PLCB1):c.1782T>C (p.Leu594=) rs878855005 0.00001
NM_015192.4(PLCB1):c.1839C>T (p.Leu613=) rs756005851 0.00001
NM_015192.4(PLCB1):c.186G>A (p.Glu62=) rs770172716 0.00001
NM_015192.4(PLCB1):c.1888+10T>C rs1429911952 0.00001
NM_015192.4(PLCB1):c.1889-4T>G rs1474211054 0.00001
NM_015192.4(PLCB1):c.1929C>T (p.Asn643=) rs757435266 0.00001
NM_015192.4(PLCB1):c.2007C>T (p.Ile669=) rs373550621 0.00001
NM_015192.4(PLCB1):c.2067T>C (p.Ser689=) rs1016422043 0.00001
NM_015192.4(PLCB1):c.2235G>A (p.Leu745=) rs587780416 0.00001
NM_015192.4(PLCB1):c.2244A>C (p.Ala748=) rs1208701865 0.00001
NM_015192.4(PLCB1):c.2309-10C>T rs1336127825 0.00001
NM_015192.4(PLCB1):c.2329A>C (p.Arg777=) rs1467021390 0.00001
NM_015192.4(PLCB1):c.2421C>T (p.Ile807=) rs768060162 0.00001
NM_015192.4(PLCB1):c.2657-15T>C rs779343687 0.00001
NM_015192.4(PLCB1):c.2691T>C (p.Leu897=) rs1360354865 0.00001
NM_015192.4(PLCB1):c.2711-17A>C rs769765757 0.00001
NM_015192.4(PLCB1):c.2736A>G (p.Glu912=) rs760894841 0.00001
NM_015192.4(PLCB1):c.2769A>G (p.Gln923=) rs1207055034 0.00001
NM_015192.4(PLCB1):c.2784A>G (p.Lys928=) rs1185092500 0.00001
NM_015192.4(PLCB1):c.2886G>A (p.Arg962=) rs1488153462 0.00001
NM_015192.4(PLCB1):c.2892C>T (p.Ala964=) rs546783466 0.00001
NM_015192.4(PLCB1):c.2930+17T>G rs754899592 0.00001
NM_015192.4(PLCB1):c.3111+7C>T rs749548164 0.00001
NM_015192.4(PLCB1):c.3300G>T (p.Arg1100=) rs370182417 0.00001
NM_015192.4(PLCB1):c.3339A>G (p.Leu1113=) rs757919673 0.00001
NM_015192.4(PLCB1):c.3348G>A (p.Ala1116=) rs587780417 0.00001
NM_015192.4(PLCB1):c.3366A>G (p.Glu1122=) rs762035591 0.00001
NM_015192.4(PLCB1):c.3372C>T (p.Leu1124=) rs530567846 0.00001
NM_015192.4(PLCB1):c.3423+7G>A rs371050518 0.00001
NM_015192.4(PLCB1):c.3424-20C>T rs1167790783 0.00001
NM_015192.4(PLCB1):c.3424-9G>A rs1045955231 0.00001
NM_015192.4(PLCB1):c.3432G>T (p.Val1144=) rs756201478 0.00001
NM_015192.4(PLCB1):c.3447A>G (p.Glu1149=) rs142432676 0.00001
NM_015192.4(PLCB1):c.3492C>T (p.Phe1164=) rs1184688670 0.00001
NM_015192.4(PLCB1):c.3549T>C (p.Pro1183=) rs780459225 0.00001
NM_015192.4(PLCB1):c.354T>C (p.Asn118=) rs766604971 0.00001
NM_015192.4(PLCB1):c.357C>T (p.Leu119=) rs754371354 0.00001
NM_015192.4(PLCB1):c.385-9A>G rs762641125 0.00001
NM_015192.4(PLCB1):c.387A>G (p.Glu129=) rs764014646 0.00001
NM_015192.4(PLCB1):c.405C>T (p.Phe135=) rs1170601854 0.00001
NM_015192.4(PLCB1):c.42G>A (p.Lys14=) rs775655063 0.00001
NM_015192.4(PLCB1):c.432A>G (p.Gln144=) rs142874818 0.00001
NM_015192.4(PLCB1):c.456G>A (p.Leu152=) rs200598979 0.00001
NM_015192.4(PLCB1):c.519-14T>C rs896154135 0.00001
NM_015192.4(PLCB1):c.528C>G (p.Arg176=) rs1989250535 0.00001
NM_015192.4(PLCB1):c.564T>A (p.Ala188=) rs775374724 0.00001
NM_015192.4(PLCB1):c.570G>A (p.Glu190=) rs966250838 0.00001
NM_015192.4(PLCB1):c.595-17G>A rs776894788 0.00001
NM_015192.4(PLCB1):c.723C>T (p.Thr241=) rs781550034 0.00001
NM_015192.4(PLCB1):c.862+16C>T rs751879371 0.00001
NM_015192.4(PLCB1):c.862+7dup rs1374117351 0.00001
NM_015192.4(PLCB1):c.867A>G (p.Gln289=) rs746884664 0.00001
NM_015192.4(PLCB1):c.942G>A (p.Leu314=) rs182563538 0.00001
NM_015192.4(PLCB1):c.963C>A (p.Pro321=) rs779382331 0.00001
NM_015192.4(PLCB1):c.99+12G>C rs763276609 0.00001
NM_020708.5(SLC12A5):c.1023A>G (p.Thr341=) rs1224748748 0.00001
NM_020708.5(SLC12A5):c.1035C>T (p.Gly345=) rs747195101 0.00001
NM_020708.5(SLC12A5):c.1101G>T (p.Val367=) rs745635839 0.00001
NM_020708.5(SLC12A5):c.1203C>T (p.Thr401=) rs1357953426 0.00001
NM_020708.5(SLC12A5):c.1308C>T (p.Ile436=) rs1366527252 0.00001
NM_020708.5(SLC12A5):c.1380C>T (p.Val460=) rs2084571064 0.00001
NM_020708.5(SLC12A5):c.1422C>T (p.Leu474=) rs371872977 0.00001
NM_020708.5(SLC12A5):c.147+18T>G rs745748778 0.00001
NM_020708.5(SLC12A5):c.148-16C>G rs751494861 0.00001
NM_020708.5(SLC12A5):c.1485C>T (p.Thr495=) rs748652503 0.00001
NM_020708.5(SLC12A5):c.1590C>T (p.Ala530=) rs2084590822 0.00001
NM_020708.5(SLC12A5):c.1662C>T (p.Leu554=) rs570128689 0.00001
NM_020708.5(SLC12A5):c.1680C>T (p.Ile560=) rs752463505 0.00001
NM_020708.5(SLC12A5):c.1725C>T (p.Ala575=) rs780184051 0.00001
NM_020708.5(SLC12A5):c.1740G>A (p.Thr580=) rs200135706 0.00001
NM_020708.5(SLC12A5):c.1774C>A (p.Arg592=) rs774420123 0.00001
NM_020708.5(SLC12A5):c.186C>T (p.Leu62=) rs746245950 0.00001
NM_020708.5(SLC12A5):c.1893C>T (p.Tyr631=) rs758192433 0.00001
NM_020708.5(SLC12A5):c.1899G>A (p.Glu633=) rs984368300 0.00001
NM_020708.5(SLC12A5):c.18G>A (p.Thr6=) rs1193496783 0.00001
NM_020708.5(SLC12A5):c.1920G>A (p.Glu640=) rs777473085 0.00001
NM_020708.5(SLC12A5):c.2012+19G>A rs2084613688 0.00001
NM_020708.5(SLC12A5):c.2012+20G>C rs756884412 0.00001
NM_020708.5(SLC12A5):c.2013-7T>C rs1404275032 0.00001
NM_020708.5(SLC12A5):c.2085C>T (p.Thr695=) rs747468488 0.00001
NM_020708.5(SLC12A5):c.2088C>T (p.Ser696=) rs1383866766 0.00001
NM_020708.5(SLC12A5):c.2163G>A (p.Gln721=) rs1423882969 0.00001
NM_020708.5(SLC12A5):c.2171G>A (p.Arg724Gln) rs763907201 0.00001
NM_020708.5(SLC12A5):c.2181+18T>C rs764842773 0.00001
NM_020708.5(SLC12A5):c.2181+9A>G rs753882744 0.00001
NM_020708.5(SLC12A5):c.2377+19G>T rs759266825 0.00001
NM_020708.5(SLC12A5):c.2378-20C>G rs377253900 0.00001
NM_020708.5(SLC12A5):c.2547+16G>C rs755275909 0.00001
NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=) rs546939045 0.00001
NM_020708.5(SLC12A5):c.2679+20C>T rs767719655 0.00001
NM_020708.5(SLC12A5):c.2679+8C>T rs771536557 0.00001
NM_020708.5(SLC12A5):c.2688C>T (p.Ser896=) rs561222589 0.00001
NM_020708.5(SLC12A5):c.2718G>A (p.Thr906=) rs376060282 0.00001
NM_020708.5(SLC12A5):c.2829A>G (p.Arg943=) rs374273794 0.00001
NM_020708.5(SLC12A5):c.2844C>T (p.Asn948=) rs1273740578 0.00001
NM_020708.5(SLC12A5):c.2877G>A (p.Thr959=) rs771915911 0.00001
NM_020708.5(SLC12A5):c.2880T>C (p.Ala960=) rs760701805 0.00001
NM_020708.5(SLC12A5):c.2910+7A>C rs370981994 0.00001
NM_020708.5(SLC12A5):c.2911-18G>A rs371561644 0.00001
NM_020708.5(SLC12A5):c.306C>T (p.Gly102=) rs907254238 0.00001
NM_020708.5(SLC12A5):c.3120G>A (p.Glu1040=) rs761882854 0.00001
NM_020708.5(SLC12A5):c.3156G>C (p.Thr1052=) rs200558731 0.00001
NM_020708.5(SLC12A5):c.315G>A (p.Leu105=) rs774143848 0.00001
NM_020708.5(SLC12A5):c.3252T>C (p.Asp1084=) rs751114001 0.00001
NM_020708.5(SLC12A5):c.3259+20G>T rs767118034 0.00001
NM_020708.5(SLC12A5):c.3261C>T (p.Tyr1087=) rs2084707675 0.00001
NM_020708.5(SLC12A5):c.348C>A (p.Leu116=) rs1358161315 0.00001
NM_020708.5(SLC12A5):c.427-16A>T rs781525443 0.00001
NM_020708.5(SLC12A5):c.465G>A (p.Thr155=) rs376632862 0.00001
NM_020708.5(SLC12A5):c.474T>A (p.Val158=) rs750160565 0.00001
NM_020708.5(SLC12A5):c.52+13C>T rs1212644121 0.00001
NM_020708.5(SLC12A5):c.53-16C>T rs1195604412 0.00001
NM_020708.5(SLC12A5):c.555C>T (p.Tyr185=) rs1472803142 0.00001
NM_020708.5(SLC12A5):c.591G>C (p.Leu197=) rs558027479 0.00001
NM_020708.5(SLC12A5):c.594C>T (p.Gly198=) rs1438984495 0.00001
NM_020708.5(SLC12A5):c.711G>A (p.Val237=) rs750550342 0.00001
NM_020708.5(SLC12A5):c.762G>A (p.Lys254=) rs1046062288 0.00001
NM_020708.5(SLC12A5):c.861C>T (p.Cys287=) rs375155469 0.00001
NM_020708.5(SLC12A5):c.900T>C (p.Asp300=) rs765877175 0.00001
NM_020708.5(SLC12A5):c.969C>T (p.Ser323=) rs1186052510 0.00001
NM_020708.5(SLC12A5):c.981C>G (p.Leu327=) rs1246713640 0.00001
NM_020708.5(SLC12A5):c.984C>T (p.Asn328=) rs754526924 0.00001
NM_020822.3(KCNT1):c.10C>T (p.Pro4Ser) rs778405770 0.00001
NM_020822.3(KCNT1):c.110+9T>A rs761910853 0.00001
NM_020822.3(KCNT1):c.1101T>A (p.Arg367=) rs553751644 0.00001
NM_020822.3(KCNT1):c.1113G>A (p.Glu371=) rs1217096141 0.00001
NM_020822.3(KCNT1):c.1167C>T (p.Phe389=) rs868420087 0.00001
NM_020822.3(KCNT1):c.1176G>A (p.Glu392=) rs149085499 0.00001
NM_020822.3(KCNT1):c.1200+16G>A rs542132567 0.00001
NM_020822.3(KCNT1):c.1200+7C>T rs1291798500 0.00001
NM_020822.3(KCNT1):c.1209C>T (p.Tyr403=) rs374653926 0.00001
NM_020822.3(KCNT1):c.1337+17G>A rs780243563 0.00001
NM_020822.3(KCNT1):c.1337+19A>G rs1373490805 0.00001
NM_020822.3(KCNT1):c.1347T>C (p.Asn449=) rs1383981222 0.00001
NM_020822.3(KCNT1):c.1356C>G (p.Ala452=) rs138306663 0.00001
NM_020822.3(KCNT1):c.1365C>T (p.Ile455=) rs1305510057 0.00001
NM_020822.3(KCNT1):c.1380C>T (p.Asn460=) rs566700584 0.00001
NM_020822.3(KCNT1):c.1401+9G>A rs1260793909 0.00001
NM_020822.3(KCNT1):c.1402-8C>T rs1303785635 0.00001
NM_020822.3(KCNT1):c.1464C>T (p.Tyr488=) rs375585422 0.00001
NM_020822.3(KCNT1):c.1476C>T (p.Leu492=) rs756062584 0.00001
NM_020822.3(KCNT1):c.1511-5C>T rs546333402 0.00001
NM_020822.3(KCNT1):c.1521G>A (p.Val507=) rs759337224 0.00001
NM_020822.3(KCNT1):c.1524T>C (p.Cys508=) rs1328119218 0.00001
NM_020822.3(KCNT1):c.1572G>A (p.Pro524=) rs113333501 0.00001
NM_020822.3(KCNT1):c.1575G>A (p.Ala525=) rs566045604 0.00001
NM_020822.3(KCNT1):c.1605C>T (p.His535=) rs1339025046 0.00001
NM_020822.3(KCNT1):c.1608G>A (p.Thr536=) rs768778333 0.00001
NM_020822.3(KCNT1):c.1620-13C>T rs1255165614 0.00001
NM_020822.3(KCNT1):c.1671C>T (p.Ser557=) rs772929290 0.00001
NM_020822.3(KCNT1):c.1700G>T (p.Gly567Val) rs781375160 0.00001
NM_020822.3(KCNT1):c.1746C>T (p.Tyr582=) rs763438119 0.00001
NM_020822.3(KCNT1):c.1769+9G>A rs758402819 0.00001
NM_020822.3(KCNT1):c.1770-14G>A rs756948128 0.00001
NM_020822.3(KCNT1):c.1770-4C>G rs1422786351 0.00001
NM_020822.3(KCNT1):c.1812G>A (p.Lys604=) rs754003723 0.00001
NM_020822.3(KCNT1):c.1851C>T (p.Ala617=) rs1275903338 0.00001
NM_020822.3(KCNT1):c.1867T>C (p.Phe623Leu) rs1392866875 0.00001
NM_020822.3(KCNT1):c.1887G>A (p.Lys629=) rs531712032 0.00001
NM_020822.3(KCNT1):c.1905C>T (p.Phe635=) rs1455339615 0.00001
NM_020822.3(KCNT1):c.1938G>T (p.Arg646Ser) rs753543470 0.00001
NM_020822.3(KCNT1):c.1952A>G (p.Gln651Arg) rs1022928641 0.00001
NM_020822.3(KCNT1):c.1963G>A (p.Glu655Lys) rs770039542 0.00001
NM_020822.3(KCNT1):c.1970C>T (p.Pro657Leu) rs566157365 0.00001
NM_020822.3(KCNT1):c.1971G>A (p.Pro657=) rs773072248 0.00001
NM_020822.3(KCNT1):c.1988A>G (p.His663Arg) rs1285595185 0.00001
NM_020822.3(KCNT1):c.1992C>T (p.Ser664=) rs558095270 0.00001
NM_020822.3(KCNT1):c.1998C>T (p.Ile666=) rs368777569 0.00001
NM_020822.3(KCNT1):c.2005A>G (p.Met669Val) rs576552962 0.00001
NM_020822.3(KCNT1):c.2008+11A>G rs762508818 0.00001
NM_020822.3(KCNT1):c.2009-9C>G rs1832837736 0.00001
NM_020822.3(KCNT1):c.2028G>T (p.Leu676=) rs1010117716 0.00001
NM_020822.3(KCNT1):c.2048C>A (p.Pro683His) rs1411700632 0.00001
NM_020822.3(KCNT1):c.2049T>C (p.Pro683=) rs1234688449 0.00001
NM_020822.3(KCNT1):c.2059G>A (p.Gly687Ser) rs1156662870 0.00001
NM_020822.3(KCNT1):c.2061C>T (p.Gly687=) rs748229745 0.00001
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser) rs570983410 0.00001
NM_020822.3(KCNT1):c.2069G>A (p.Gly690Asp) rs777827895 0.00001
NM_020822.3(KCNT1):c.2103C>T (p.Asn701=) rs375289689 0.00001
NM_020822.3(KCNT1):c.2133G>A (p.Ala711=) rs755266973 0.00001
NM_020822.3(KCNT1):c.2196G>A (p.Ser732=) rs557680361 0.00001
NM_020822.3(KCNT1):c.220C>A (p.Leu74Met) rs943048769 0.00001
NM_020822.3(KCNT1):c.222G>T (p.Leu74=) rs573574312 0.00001
NM_020822.3(KCNT1):c.2244-10C>T rs758069398 0.00001
NM_020822.3(KCNT1):c.2244-17C>T rs1024730518 0.00001
NM_020822.3(KCNT1):c.2244-5C>T rs746682785 0.00001
NM_020822.3(KCNT1):c.2244G>C (p.Glu748Asp) rs1333549995 0.00001
NM_020822.3(KCNT1):c.2265C>T (p.Pro755=) rs1263083880 0.00001
NM_020822.3(KCNT1):c.2295C>T (p.Thr765=) rs765278495 0.00001
NM_020822.3(KCNT1):c.22C>G (p.Arg8Gly) rs747457929 0.00001
NM_020822.3(KCNT1):c.2350-3C>T rs776607977 0.00001
NM_020822.3(KCNT1):c.2350-5C>T rs965133345 0.00001
NM_020822.3(KCNT1):c.2409C>T (p.Ile803=) rs557969167 0.00001
NM_020822.3(KCNT1):c.2412C>T (p.Ile804=) rs559452456 0.00001
NM_020822.3(KCNT1):c.2421A>G (p.Ala807=) rs765974520 0.00001
NM_020822.3(KCNT1):c.2522+13G>A rs41310951 0.00001
NM_020822.3(KCNT1):c.2522+14G>A rs947043112 0.00001
NM_020822.3(KCNT1):c.2523-13G>A rs770824523 0.00001
NM_020822.3(KCNT1):c.2538C>T (p.Phe846=) rs1251104570 0.00001
NM_020822.3(KCNT1):c.254+15C>G rs1341686028 0.00001
NM_020822.3(KCNT1):c.255-12C>G rs778749299 0.00001
NM_020822.3(KCNT1):c.255-4T>A rs1564343924 0.00001
NM_020822.3(KCNT1):c.2559C>T (p.Phe853=) rs1166992644 0.00001
NM_020822.3(KCNT1):c.2568C>T (p.Val856=) rs1554777911 0.00001
NM_020822.3(KCNT1):c.2589G>A (p.Val863=) rs558135119 0.00001
NM_020822.3(KCNT1):c.2594+14G>A rs750707802 0.00001
NM_020822.3(KCNT1):c.2594+6G>A rs973179248 0.00001
NM_020822.3(KCNT1):c.2595-15C>T rs1190489711 0.00001
NM_020822.3(KCNT1):c.261G>A (p.Gln87=) rs777687658 0.00001
NM_020822.3(KCNT1):c.2640G>C (p.Leu880=) rs773647691 0.00001
NM_020822.3(KCNT1):c.2694C>T (p.Asp898=) rs369904278 0.00001
NM_020822.3(KCNT1):c.2715G>A (p.Val905=) rs771377696 0.00001
NM_020822.3(KCNT1):c.2729+15C>T rs200624821 0.00001
NM_020822.3(KCNT1):c.2799C>T (p.Arg933=) rs551148089 0.00001
NM_020822.3(KCNT1):c.2814C>T (p.Tyr938=) rs767742382 0.00001
NM_020822.3(KCNT1):c.285C>T (p.Asn95=) rs558966732 0.00001
NM_020822.3(KCNT1):c.2865C>T (p.Asn955=) rs142596339 0.00001
NM_020822.3(KCNT1):c.2904C>T (p.Arg968=) rs986294962 0.00001
NM_020822.3(KCNT1):c.2943+14C>T rs562923809 0.00001
NM_020822.3(KCNT1):c.2944-14C>G rs1387209716 0.00001
NM_020822.3(KCNT1):c.2997C>T (p.Asp999=) rs771951768 0.00001
NM_020822.3(KCNT1):c.3000C>T (p.Thr1000=) rs1209287528 0.00001
NM_020822.3(KCNT1):c.300G>A (p.Arg100=) rs762249620 0.00001
NM_020822.3(KCNT1):c.3012G>A (p.Ser1004=) rs751965012 0.00001
NM_020822.3(KCNT1):c.3027+19G>A rs778490327 0.00001
NM_020822.3(KCNT1):c.3028-16G>A rs1236949709 0.00001
NM_020822.3(KCNT1):c.3048C>T (p.Asp1016=) rs748942066 0.00001
NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=) rs1360446142 0.00001
NM_020822.3(KCNT1):c.3099C>T (p.Ser1033=) rs377554985 0.00001
NM_020822.3(KCNT1):c.3105G>A (p.Glu1035=) rs1833915179 0.00001
NM_020822.3(KCNT1):c.3108C>A (p.Ile1036=) rs370878235 0.00001
NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=) rs765432746 0.00001
NM_020822.3(KCNT1):c.3177+16G>A rs749539780 0.00001
NM_020822.3(KCNT1):c.3177+9C>T rs781750496 0.00001
NM_020822.3(KCNT1):c.3195C>T (p.Asn1065=) rs747248633 0.00001
NM_020822.3(KCNT1):c.3231G>A (p.Gly1077=) rs375957383 0.00001
NM_020822.3(KCNT1):c.3241T>C (p.Ser1081Pro) rs1312042895 0.00001
NM_020822.3(KCNT1):c.3282G>A (p.Thr1094=) rs754919919 0.00001
NM_020822.3(KCNT1):c.3319C>T (p.Arg1107Cys) rs750627411 0.00001
NM_020822.3(KCNT1):c.3360G>A (p.Ala1120=) rs768977873 0.00001
NM_020822.3(KCNT1):c.3400A>G (p.Ser1134Gly) rs1332070255 0.00001
NM_020822.3(KCNT1):c.3435G>A (p.Glu1145=) rs1373486252 0.00001
NM_020822.3(KCNT1):c.3483G>T (p.Gly1161=) rs371640443 0.00001
NM_020822.3(KCNT1):c.3502+13G>A rs769937688 0.00001
NM_020822.3(KCNT1):c.3503-15C>T rs373596158 0.00001
NM_020822.3(KCNT1):c.3503-16G>C rs1343359299 0.00001
NM_020822.3(KCNT1):c.3554C>T (p.Pro1185Leu) rs544495873 0.00001
NM_020822.3(KCNT1):c.3561C>T (p.Asp1187=) rs773695396 0.00001
NM_020822.3(KCNT1):c.3564G>A (p.Thr1188=) rs530040739 0.00001
NM_020822.3(KCNT1):c.3582C>T (p.Asp1194=) rs1375394882 0.00001
NM_020822.3(KCNT1):c.3587+14G>A rs765545901 0.00001
NM_020822.3(KCNT1):c.3588-3C>T rs1222157071 0.00001
NM_020822.3(KCNT1):c.3588-5C>T rs765277880 0.00001
NM_020822.3(KCNT1):c.3618C>T (p.His1206=) rs577378740 0.00001
NM_020822.3(KCNT1):c.3619G>A (p.Val1207Met) rs766339368 0.00001
NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys) rs752729337 0.00001
NM_020822.3(KCNT1):c.3664C>T (p.Leu1222=) rs755694160 0.00001
NM_020822.3(KCNT1):c.3693C>T (p.Asp1231=) rs758617654 0.00001
NM_020822.3(KCNT1):c.41G>C (p.Cys14Ser) rs750374521 0.00001
NM_020822.3(KCNT1):c.429C>T (p.Ile143=) rs767429133 0.00001
NM_020822.3(KCNT1):c.430G>A (p.Gly144Arg) rs1157678641 0.00001
NM_020822.3(KCNT1):c.434+13C>T rs748845591 0.00001
NM_020822.3(KCNT1):c.434+19C>T rs772750955 0.00001
NM_020822.3(KCNT1):c.434+20G>A rs773820998 0.00001
NM_020822.3(KCNT1):c.435-6C>T rs370235990 0.00001
NM_020822.3(KCNT1):c.462C>T (p.Ser154=) rs1298529710 0.00001
NM_020822.3(KCNT1):c.47A>T (p.Glu16Val) rs755980218 0.00001
NM_020822.3(KCNT1):c.481G>A (p.Glu161Lys) rs770108075 0.00001
NM_020822.3(KCNT1):c.4C>G (p.Pro2Ala) rs748898708 0.00001
NM_020822.3(KCNT1):c.502C>T (p.Leu168=) rs1175336277 0.00001
NM_020822.3(KCNT1):c.50C>T (p.Ala17Val) rs377687237 0.00001
NM_020822.3(KCNT1):c.546C>T (p.Ile182=) rs778118549 0.00001
NM_020822.3(KCNT1):c.55G>A (p.Gly19Ser) rs778657830 0.00001
NM_020822.3(KCNT1):c.567G>A (p.Leu189=) rs372998864 0.00001
NM_020822.3(KCNT1):c.601-17C>A rs1242080755 0.00001
NM_020822.3(KCNT1):c.601-4C>G rs752516170 0.00001
NM_020822.3(KCNT1):c.636C>T (p.Phe212=) rs769137731 0.00001
NM_020822.3(KCNT1):c.642G>A (p.Leu214=) rs749747344 0.00001
NM_020822.3(KCNT1):c.645G>A (p.Glu215=) rs1233969286 0.00001
NM_020822.3(KCNT1):c.65A>G (p.Tyr22Cys) rs551930493 0.00001
NM_020822.3(KCNT1):c.675+10C>T rs1045068086 0.00001
NM_020822.3(KCNT1):c.687G>A (p.Pro229=) rs748796809 0.00001
NM_020822.3(KCNT1):c.730C>T (p.Leu244=) rs376096546 0.00001
NM_020822.3(KCNT1):c.741C>T (p.His247=) rs1218041775 0.00001
NM_020822.3(KCNT1):c.759+11G>A rs1376011545 0.00001
NM_020822.3(KCNT1):c.759+8G>A rs370804021 0.00001
NM_020822.3(KCNT1):c.765C>T (p.Asp255=) rs1167927802 0.00001
NM_020822.3(KCNT1):c.777C>T (p.Ala259=) rs759317415 0.00001
NM_020822.3(KCNT1):c.804C>T (p.Phe268=) rs138371302 0.00001
NM_020822.3(KCNT1):c.81C>T (p.Phe27=) rs761869915 0.00001
NM_020822.3(KCNT1):c.835C>T (p.Leu279=) rs1187706487 0.00001
NM_020822.3(KCNT1):c.854+19T>G rs762382117 0.00001
NM_020822.3(KCNT1):c.855-12C>T rs1042693872 0.00001
NM_020822.3(KCNT1):c.861C>T (p.Cys287=) rs750884338 0.00001
NM_020822.3(KCNT1):c.882G>A (p.Arg294=) rs755272136 0.00001
NM_020822.3(KCNT1):c.903C>T (p.Leu301=) rs1588330751 0.00001
NM_020822.3(KCNT1):c.90C>T (p.Asp30=) rs1385683784 0.00001
NC_000009.11:g.(?_138606403)_(138606586_?)del
NC_000009.11:g.(?_138606413)_(138606576_?)del
NM_007254.4(PNKP):c.1005C>A (p.Gly335=)
NM_007254.4(PNKP):c.1011G>A (p.Glu337=)
NM_007254.4(PNKP):c.1014C>T (p.Leu338=)
NM_007254.4(PNKP):c.1017A>T (p.Pro339=)
NM_007254.4(PNKP):c.1029+15C>T
NM_007254.4(PNKP):c.1029+19G>A
NM_007254.4(PNKP):c.1029+20G>C rs1239545577
NM_007254.4(PNKP):c.1029+20_1029+31del
NM_007254.4(PNKP):c.1030-12C>G
NM_007254.4(PNKP):c.1030-14C>T
NM_007254.4(PNKP):c.1030-15C>T rs2122325717
NM_007254.4(PNKP):c.1030-16C>A
NM_007254.4(PNKP):c.1030-16C>G
NM_007254.4(PNKP):c.1030-16C>T rs772191471
NM_007254.4(PNKP):c.1030-7C>T
NM_007254.4(PNKP):c.1030-8C>G
NM_007254.4(PNKP):c.103A>C (p.Arg35=)
NM_007254.4(PNKP):c.1041C>T (p.Ser347=)
NM_007254.4(PNKP):c.1044C>G (p.Arg348=) rs932293072
NM_007254.4(PNKP):c.1050G>T (p.Gly350=) rs1194208521
NM_007254.4(PNKP):c.1065C>G (p.Pro355=)
NM_007254.4(PNKP):c.1065C>T (p.Pro355=) rs569834947
NM_007254.4(PNKP):c.1110A>G (p.Ala370=) rs753408018
NM_007254.4(PNKP):c.1113G>A (p.Val371=) rs1409679685
NM_007254.4(PNKP):c.111C>A (p.Pro37=) rs781573473
NM_007254.4(PNKP):c.1125G>T (p.Gly375=) rs727504101
NM_007254.4(PNKP):c.1126+12G>A
NM_007254.4(PNKP):c.1126+15C>T rs748643212
NM_007254.4(PNKP):c.1126+16C>T
NM_007254.4(PNKP):c.1126+7G>T
NM_007254.4(PNKP):c.1126+9C>G rs3739202
NM_007254.4(PNKP):c.1127-10C>A rs747464508
NM_007254.4(PNKP):c.1127-19G>A
NM_007254.4(PNKP):c.1127-19G>C
NM_007254.4(PNKP):c.1127-19G>T rs776536622
NM_007254.4(PNKP):c.1127-7C>A
NM_007254.4(PNKP):c.1128C>T (p.Ala376=)
NM_007254.4(PNKP):c.1134G>A (p.Lys378=)
NM_007254.4(PNKP):c.1146C>G (p.Leu382=) rs751483948
NM_007254.4(PNKP):c.1155C>T (p.His385=) rs758168476
NM_007254.4(PNKP):c.1161G>A (p.Val387=)
NM_007254.4(PNKP):c.1164G>T (p.Ser388=) rs776788871
NM_007254.4(PNKP):c.1179C>T (p.His393=)
NM_007254.4(PNKP):c.1188+11_1188+13del
NM_007254.4(PNKP):c.1188+12C>G
NM_007254.4(PNKP):c.1188+16T>A rs1254862884
NM_007254.4(PNKP):c.1188+7C>T rs2122323745
NM_007254.4(PNKP):c.1188+8del rs763782151
NM_007254.4(PNKP):c.1189-13C>G
NM_007254.4(PNKP):c.1189-13C>T
NM_007254.4(PNKP):c.1189-16C>T
NM_007254.4(PNKP):c.1189-17A>T
NM_007254.4(PNKP):c.1189-46_1189-10del
NM_007254.4(PNKP):c.1189-5C>A rs752826211
NM_007254.4(PNKP):c.1194G>A (p.Thr398=)
NM_007254.4(PNKP):c.1215T>C (p.Cys405=) rs2122321900
NM_007254.4(PNKP):c.1218G>C (p.Val406=)
NM_007254.4(PNKP):c.1221C>A (p.Thr407=)
NM_007254.4(PNKP):c.1236C>T (p.Ala412=) rs1060504641
NM_007254.4(PNKP):c.1237C>T (p.Leu413=) rs2074769563
NM_007254.4(PNKP):c.1263C>A (p.Ile421=) rs758836805
NM_007254.4(PNKP):c.1263C>T (p.Ile421=) rs758836805
NM_007254.4(PNKP):c.126G>A (p.Thr42=)
NM_007254.4(PNKP):c.126G>C (p.Thr42=)
NM_007254.4(PNKP):c.1284C>A (p.Ala428=) rs749177501
NM_007254.4(PNKP):c.1284C>G (p.Ala428=) rs749177501
NM_007254.4(PNKP):c.1284C>T (p.Ala428=) rs749177501
NM_007254.4(PNKP):c.1286_1298+6dup rs760249644
NM_007254.4(PNKP):c.1293C>A (p.Arg431=) rs143390809
NM_007254.4(PNKP):c.1296C>G (p.Ala432=)
NM_007254.4(PNKP):c.1298+12G>A rs747065246
NM_007254.4(PNKP):c.1298+12G>T rs747065246
NM_007254.4(PNKP):c.1298+13C>T
NM_007254.4(PNKP):c.1298+13_1298+14insA
NM_007254.4(PNKP):c.1298+16_1298+17insCGCGGGTCA
NM_007254.4(PNKP):c.1298+18C>T rs964341783
NM_007254.4(PNKP):c.1298+20G>A rs765634741
NM_007254.4(PNKP):c.1298+7_1298+12dup
NM_007254.4(PNKP):c.1299-12C>T
NM_007254.4(PNKP):c.1299-13C>G rs761732328
NM_007254.4(PNKP):c.1299-14T>G
NM_007254.4(PNKP):c.1299-5C>G
NM_007254.4(PNKP):c.1299-9C>A rs1055654261
NM_007254.4(PNKP):c.1299-9_1299-8delinsTT rs1064794370
NM_007254.4(PNKP):c.1305C>G (p.Val435=)
NM_007254.4(PNKP):c.1320C>G (p.Ala440=) rs565533397
NM_007254.4(PNKP):c.1320C>T (p.Ala440=) rs565533397
NM_007254.4(PNKP):c.1323G>T (p.Ala441=)
NM_007254.4(PNKP):c.1326C>T (p.Gly442=) rs1159488769
NM_007254.4(PNKP):c.1332C>G (p.Pro444=)
NM_007254.4(PNKP):c.1332C>T (p.Pro444=) rs1354256517
NM_007254.4(PNKP):c.1338C>G (p.Arg446=) rs1487681927
NM_007254.4(PNKP):c.1353C>T (p.Thr451=)
NM_007254.4(PNKP):c.135G>A (p.Lys45=)
NM_007254.4(PNKP):c.1360C>T (p.Leu454=)
NM_007254.4(PNKP):c.1371G>A (p.Ala457=) rs1477817574
NM_007254.4(PNKP):c.1386+15C>T
NM_007254.4(PNKP):c.1386+19G>A
NM_007254.4(PNKP):c.1386+19G>C
NM_007254.4(PNKP):c.1386+40C>G
NM_007254.4(PNKP):c.1386+41C>G
NM_007254.4(PNKP):c.1386+45C>T
NM_007254.4(PNKP):c.1386+46C>G rs767727372
NM_007254.4(PNKP):c.1386+8C>T rs2074762037
NM_007254.4(PNKP):c.1386+9G>A
NM_007254.4(PNKP):c.1386+9G>T
NM_007254.4(PNKP):c.1387-14G>A
NM_007254.4(PNKP):c.1387-16C>G
NM_007254.4(PNKP):c.1387-33C>G
NM_007254.4(PNKP):c.1387-35C>A
NM_007254.4(PNKP):c.1387-35C>T
NM_007254.4(PNKP):c.1387-36C>A
NM_007254.4(PNKP):c.1387-36C>T rs748550221
NM_007254.4(PNKP):c.1387-43C>T
NM_007254.4(PNKP):c.1387-47del
NM_007254.4(PNKP):c.1387-7C>T rs1060504642
NM_007254.4(PNKP):c.1395G>A (p.Glu465=)
NM_007254.4(PNKP):c.1422G>A (p.Val474=) rs1017330396
NM_007254.4(PNKP):c.1422G>C (p.Val474=)
NM_007254.4(PNKP):c.1428C>T (p.Asp476=)
NM_007254.4(PNKP):c.1448+10G>A rs2074756487
NM_007254.4(PNKP):c.1448+11G>T
NM_007254.4(PNKP):c.1448+14T>C
NM_007254.4(PNKP):c.1448+5_1448+8dup
NM_007254.4(PNKP):c.1449-11_1449-10del rs1568658026
NM_007254.4(PNKP):c.1449-12C>T
NM_007254.4(PNKP):c.1449-13C>T
NM_007254.4(PNKP):c.1449-14_1449-13delinsTT
NM_007254.4(PNKP):c.1449-5G>A
NM_007254.4(PNKP):c.1449-5G>T rs1030404078
NM_007254.4(PNKP):c.1449-8_1449-6del
NM_007254.4(PNKP):c.1449-9C>T
NM_007254.4(PNKP):c.1464C>T (p.Ala488=)
NM_007254.4(PNKP):c.1482C>A (p.Gly494=) rs60279874
NM_007254.4(PNKP):c.1482C>G (p.Gly494=)
NM_007254.4(PNKP):c.1494C>T (p.Ile498=) rs368390840
NM_007254.4(PNKP):c.1497G>T (p.Leu499=)
NM_007254.4(PNKP):c.1500G>A (p.Glu500=) rs1381051164
NM_007254.4(PNKP):c.151+10G>A
NM_007254.4(PNKP):c.151+10G>T rs752454809
NM_007254.4(PNKP):c.151+9G>A rs1334243225
NM_007254.4(PNKP):c.1510C>A (p.Arg504=) rs148669160
NM_007254.4(PNKP):c.1512G>C (p.Arg504=) rs2074753438
NM_007254.4(PNKP):c.1512G>T (p.Arg504=)
NM_007254.4(PNKP):c.152-13C>T
NM_007254.4(PNKP):c.152-17A>C
NM_007254.4(PNKP):c.1521G>A (p.Val507=) rs2122315651
NM_007254.4(PNKP):c.1527G>A (p.Pro509=)
NM_007254.4(PNKP):c.1527G>T (p.Pro509=) rs144086713
NM_007254.4(PNKP):c.1531C>T (p.Leu511=) rs1423615371
NM_007254.4(PNKP):c.1536G>A (p.Gly512=) rs766717633
NM_007254.4(PNKP):c.1536G>T (p.Gly512=)
NM_007254.4(PNKP):c.1539G>A (p.Arg513=) rs776243333
NM_007254.4(PNKP):c.1545C>T (p.Tyr515=) rs760131892
NM_007254.4(PNKP):c.1557C>G (p.Ser519=) rs142180374
NM_007254.4(PNKP):c.1560G>A (p.Glu520=)
NM_007254.4(PNKP):c.156G>A (p.Glu52=)
NM_007254.4(PNKP):c.15G>A (p.Glu5=)
NM_007254.4(PNKP):c.198+13C>G
NM_007254.4(PNKP):c.198+13C>T
NM_007254.4(PNKP):c.198+15G>A
NM_007254.4(PNKP):c.198+19G>C rs533017953
NM_007254.4(PNKP):c.198+7G>T rs2122342848
NM_007254.4(PNKP):c.198+9G>T
NM_007254.4(PNKP):c.199-14C>T
NM_007254.4(PNKP):c.199-14CT[2] rs749292876
NM_007254.4(PNKP):c.222C>T (p.Thr74=)
NM_007254.4(PNKP):c.234G>A (p.Glu78=) rs2122339283
NM_007254.4(PNKP):c.243G>A (p.Pro81=) rs1057520480
NM_007254.4(PNKP):c.252G>A (p.Glu84=)
NM_007254.4(PNKP):c.255C>T (p.Gly85=) rs1568662321
NM_007254.4(PNKP):c.258T>C (p.Ser86=) rs375826483
NM_007254.4(PNKP):c.270G>A (p.Gly90=)
NM_007254.4(PNKP):c.27C>T (p.Arg9=)
NM_007254.4(PNKP):c.28T>C (p.Leu10=)
NM_007254.4(PNKP):c.291T>C (p.Asn97=) rs1555811608
NM_007254.4(PNKP):c.294C>T (p.Gly98=) rs1197822719
NM_007254.4(PNKP):c.300C>T (p.His100=)
NM_007254.4(PNKP):c.321A>G (p.Glu107=) rs2122338975
NM_007254.4(PNKP):c.336A>G (p.Pro112=) rs2122338877
NM_007254.4(PNKP):c.357G>C (p.Pro119=) rs766826936
NM_007254.4(PNKP):c.357G>T (p.Pro119=)
NM_007254.4(PNKP):c.36C>G (p.Leu12=) rs1197600061
NM_007254.4(PNKP):c.378C>T (p.Ser126=) rs2122338751
NM_007254.4(PNKP):c.381A>G (p.Gln127=) rs139679798
NM_007254.4(PNKP):c.408G>A (p.Pro136=) rs770822417
NM_007254.4(PNKP):c.408G>C (p.Pro136=) rs770822417
NM_007254.4(PNKP):c.408G>T (p.Pro136=) rs770822417
NM_007254.4(PNKP):c.417T>A (p.Arg139=) rs1060504643
NM_007254.4(PNKP):c.429A>C (p.Ser143=)
NM_007254.4(PNKP):c.42C>T (p.Ser14=) rs751327913
NM_007254.4(PNKP):c.432C>T (p.Asn144=)
NM_007254.4(PNKP):c.438C>G (p.Gly146=)
NM_007254.4(PNKP):c.444G>A (p.Glu148=) rs2122338483
NM_007254.4(PNKP):c.460C>T (p.Leu154=) rs933383603
NM_007254.4(PNKP):c.480G>C (p.Gly160=) rs1600421459
NM_007254.4(PNKP):c.48T>A (p.Pro16=)
NM_007254.4(PNKP):c.495C>G (p.Gly165=)
NM_007254.4(PNKP):c.498+14C>T
NM_007254.4(PNKP):c.498+18G>C
NM_007254.4(PNKP):c.499-18_499-17insTCCTTGGTGTCACCTG rs753093330
NM_007254.4(PNKP):c.499-19C>T rs868590428
NM_007254.4(PNKP):c.499-4C>A
NM_007254.4(PNKP):c.499-9T>C
NM_007254.4(PNKP):c.51G>A (p.Gly17=)
NM_007254.4(PNKP):c.528C>T (p.Leu176=)
NM_007254.4(PNKP):c.54A>G (p.Gly18=)
NM_007254.4(PNKP):c.578+11G>A
NM_007254.4(PNKP):c.578+11G>T
NM_007254.4(PNKP):c.578+18_578+21del
NM_007254.4(PNKP):c.578+8G>A rs1434825029
NM_007254.4(PNKP):c.578+8G>C
NM_007254.4(PNKP):c.579-11del
NM_007254.4(PNKP):c.579-6C>T
NM_007254.4(PNKP):c.579-9C>A rs955732346
NM_007254.4(PNKP):c.579-9C>G rs955732346
NM_007254.4(PNKP):c.579-9C>T
NM_007254.4(PNKP):c.582C>T (p.Ile194=)
NM_007254.4(PNKP):c.591A>G (p.Pro197=)
NM_007254.4(PNKP):c.606G>A (p.Lys202=) rs767378244
NM_007254.4(PNKP):c.609C>G (p.Leu203=)
NM_007254.4(PNKP):c.612A>G (p.Arg204=) rs1207529903
NM_007254.4(PNKP):c.636+14C>G rs2122335161
NM_007254.4(PNKP):c.636+15C>G rs773988123
NM_007254.4(PNKP):c.636+15C>T
NM_007254.4(PNKP):c.636+17G>A
NM_007254.4(PNKP):c.637-13del rs754413273
NM_007254.4(PNKP):c.637-14C>A
NM_007254.4(PNKP):c.637-14C>G
NM_007254.4(PNKP):c.637-14C>T
NM_007254.4(PNKP):c.645C>A (p.Ile215=)
NM_007254.4(PNKP):c.663C>T (p.Ser221=) rs1376565938
NM_007254.4(PNKP):c.666C>T (p.Ile222=) rs587784369
NM_007254.4(PNKP):c.681G>C (p.Leu227=)
NM_007254.4(PNKP):c.69C>T (p.Phe23=) rs2122345008
NM_007254.4(PNKP):c.6C>T (p.Gly2=)
NM_007254.4(PNKP):c.705G>A (p.Lys235=)
NM_007254.4(PNKP):c.744+13G>A
NM_007254.4(PNKP):c.744+18G>A
NM_007254.4(PNKP):c.745-17C>G
NM_007254.4(PNKP):c.745-9C>T rs1555811381
NM_007254.4(PNKP):c.75C>T (p.Pro25=) rs267605593
NM_007254.4(PNKP):c.765A>C (p.Ala255=)
NM_007254.4(PNKP):c.801C>T (p.Asp267=)
NM_007254.4(PNKP):c.807G>A (p.Leu269=)
NM_007254.4(PNKP):c.816+8_816+11dup
NM_007254.4(PNKP):c.817-11G>A
NM_007254.4(PNKP):c.817-15T>C
NM_007254.4(PNKP):c.817-16C>T rs751500600
NM_007254.4(PNKP):c.817-17A>C
NM_007254.4(PNKP):c.817-17A>G rs759404435
NM_007254.4(PNKP):c.817-20_817-18del
NM_007254.4(PNKP):c.817-4G>C
NM_007254.4(PNKP):c.817-4G>T rs377241372
NM_007254.4(PNKP):c.817-5del rs767881542
NM_007254.4(PNKP):c.817-6C>T rs1438851811
NM_007254.4(PNKP):c.81C>T (p.Asp27=) rs1226961947
NM_007254.4(PNKP):c.828C>T (p.Gly276=)
NM_007254.4(PNKP):c.840C>T (p.Ser280=) rs754505243
NM_007254.4(PNKP):c.843C>T (p.Ile281=)
NM_007254.4(PNKP):c.865+10T>C
NM_007254.4(PNKP):c.865+11G>C
NM_007254.4(PNKP):c.865+17T>C
NM_007254.4(PNKP):c.865+7G>A
NM_007254.4(PNKP):c.865+8C>T
NM_007254.4(PNKP):c.865+9C>T rs1555811201
NM_007254.4(PNKP):c.865+9del rs2122329016
NM_007254.4(PNKP):c.866-14C>G
NM_007254.4(PNKP):c.866-18G>A
NM_007254.4(PNKP):c.867C>T (p.Asp289=) rs771239062
NM_007254.4(PNKP):c.873C>A (p.Ala291=) rs749641401
NM_007254.4(PNKP):c.882G>A (p.Pro294=) rs745849196
NM_007254.4(PNKP):c.882G>T (p.Pro294=)
NM_007254.4(PNKP):c.906G>A (p.Lys302=) rs1555811171
NM_007254.4(PNKP):c.924C>T (p.Cys308=)
NM_007254.4(PNKP):c.927C>T (p.Ala309=)
NM_007254.4(PNKP):c.933C>G (p.Arg311=) rs755200425
NM_007254.4(PNKP):c.933C>T (p.Arg311=)
NM_007254.4(PNKP):c.936+10del rs1028122181
NM_007254.4(PNKP):c.936+11T>C
NM_007254.4(PNKP):c.936+13C>A rs962788282
NM_007254.4(PNKP):c.936+13C>G rs962788282
NM_007254.4(PNKP):c.936+15C>G rs1408686073
NM_007254.4(PNKP):c.936+16C>T rs369723968
NM_007254.4(PNKP):c.936+17C>G rs771741148
NM_007254.4(PNKP):c.936+4_936+10dup
NM_007254.4(PNKP):c.937-11_937-10del rs769234730
NM_007254.4(PNKP):c.937-13C>T
NM_007254.4(PNKP):c.937-15G>A
NM_007254.4(PNKP):c.937-15G>C rs200183796
NM_007254.4(PNKP):c.937-16C>G rs755267515
NM_007254.4(PNKP):c.937-19G>T
NM_007254.4(PNKP):c.937-6C>T
NM_007254.4(PNKP):c.937-7C>T
NM_007254.4(PNKP):c.93G>C (p.Leu31=)
NM_007254.4(PNKP):c.954C>T (p.Gly318=)
NM_007254.4(PNKP):c.957G>A (p.Leu319=) rs1600417997
NM_007254.4(PNKP):c.963C>T (p.Phe321=) rs1042120334
NM_007254.4(PNKP):c.999A>T (p.Ala333=) rs1568660146
NM_015192.4(PLCB1):c.100-5del rs2051496558
NM_015192.4(PLCB1):c.1009+10T>C
NM_015192.4(PLCB1):c.1010-12G>C rs2123427869
NM_015192.4(PLCB1):c.1010-15G>C
NM_015192.4(PLCB1):c.1010-16T>C
NM_015192.4(PLCB1):c.1010-19T>A
NM_015192.4(PLCB1):c.1010-5T>G
NM_015192.4(PLCB1):c.1011T>C (p.Ala337=)
NM_015192.4(PLCB1):c.1014C>G (p.Gly338=)
NM_015192.4(PLCB1):c.1020G>T (p.Leu340=) rs1026746331
NM_015192.4(PLCB1):c.1023T>A (p.Ala341=) rs2123427957
NM_015192.4(PLCB1):c.1023T>C (p.Ala341=)
NM_015192.4(PLCB1):c.1056G>A (p.Val352=)
NM_015192.4(PLCB1):c.1116G>A (p.Glu372=)
NM_015192.4(PLCB1):c.1149A>T (p.Thr383=) rs1600258498
NM_015192.4(PLCB1):c.1167+9T>C rs202247297
NM_015192.4(PLCB1):c.1168-17T>C
NM_015192.4(PLCB1):c.1168-19C>T
NM_015192.4(PLCB1):c.1168-20A>G
NM_015192.4(PLCB1):c.1179A>G (p.Glu393=)
NM_015192.4(PLCB1):c.1206T>C (p.Thr402=) rs1244012742
NM_015192.4(PLCB1):c.1218A>G (p.Pro406=)
NM_015192.4(PLCB1):c.1250+10C>T rs2123451946
NM_015192.4(PLCB1):c.1250+15C>T
NM_015192.4(PLCB1):c.1251-12G>A
NM_015192.4(PLCB1):c.1251-12G>T
NM_015192.4(PLCB1):c.1251-15C>G
NM_015192.4(PLCB1):c.1251-20C>T rs2123465564
NM_015192.4(PLCB1):c.1251-5C>T rs1232990898
NM_015192.4(PLCB1):c.1263A>G (p.Gln421=) rs2123465618
NM_015192.4(PLCB1):c.1269G>A (p.Lys423=)
NM_015192.4(PLCB1):c.1281C>T (p.Tyr427=)
NM_015192.4(PLCB1):c.1317G>A (p.Glu439=)
NM_015192.4(PLCB1):c.1320C>A (p.Pro440=) rs2123465748
NM_015192.4(PLCB1):c.1323G>A (p.Leu441=) rs1231131549
NM_015192.4(PLCB1):c.1335+11C>G
NM_015192.4(PLCB1):c.1335+15T>C
NM_015192.4(PLCB1):c.1336-13dup
NM_015192.4(PLCB1):c.1365T>C (p.Pro455=) rs1979399173
NM_015192.4(PLCB1):c.1389G>A (p.Leu463=)
NM_015192.4(PLCB1):c.1401G>A (p.Lys467=)
NM_015192.4(PLCB1):c.1416G>A (p.Lys472=)
NM_015192.4(PLCB1):c.1434C>A (p.Gly478=) rs13042785
NM_015192.4(PLCB1):c.1449A>G (p.Ser483=)
NM_015192.4(PLCB1):c.1464C>T (p.Asn488=)
NM_015192.4(PLCB1):c.1467C>G (p.Thr489=) rs1319689571
NM_015192.4(PLCB1):c.1514-14T>C
NM_015192.4(PLCB1):c.1514-17T>C
NM_015192.4(PLCB1):c.1527G>A (p.Thr509=) rs141857911
NM_015192.4(PLCB1):c.1527G>C (p.Thr509=) rs141857911
NM_015192.4(PLCB1):c.1581+20G>C
NM_015192.4(PLCB1):c.1582-11C>A
NM_015192.4(PLCB1):c.1582-16T>C rs2123482619
NM_015192.4(PLCB1):c.1582-20T>C rs978161914
NM_015192.4(PLCB1):c.1582-20T>G
NM_015192.4(PLCB1):c.1582-6T>G rs763270303
NM_015192.4(PLCB1):c.1584G>C (p.Gly528=) rs957436764
NM_015192.4(PLCB1):c.1587T>C (p.Thr529=)
NM_015192.4(PLCB1):c.159C>T (p.Tyr53=)
NM_015192.4(PLCB1):c.1623T>C (p.Ser541=)
NM_015192.4(PLCB1):c.1653G>A (p.Lys551=)
NM_015192.4(PLCB1):c.1678+14G>A
NM_015192.4(PLCB1):c.1678+7T>C
NM_015192.4(PLCB1):c.1679-20T>G
NM_015192.4(PLCB1):c.1722A>G (p.Lys574=)
NM_015192.4(PLCB1):c.1740C>T (p.Thr580=) rs2123487994
NM_015192.4(PLCB1):c.1746T>G (p.Ser582=)
NM_015192.4(PLCB1):c.1763+16C>T
NM_015192.4(PLCB1):c.1764-12A>G rs1377870470
NM_015192.4(PLCB1):c.1764-7G>T
NM_015192.4(PLCB1):c.177+10G>A rs2123032657
NM_015192.4(PLCB1):c.177+13G>A
NM_015192.4(PLCB1):c.177+16T>C
NM_015192.4(PLCB1):c.177+8A>G rs2051497659
NM_015192.4(PLCB1):c.177+8_177+13del
NM_015192.4(PLCB1):c.1785C>T (p.Ser595=)
NM_015192.4(PLCB1):c.1854T>C (p.Gly618=) rs559952614
NM_015192.4(PLCB1):c.1888+13T>G
NM_015192.4(PLCB1):c.1888+17T>A
NM_015192.4(PLCB1):c.1888+9A>G rs371050904
NM_015192.4(PLCB1):c.1889-17G>T
NM_015192.4(PLCB1):c.1889-6A>G rs754796840
NM_015192.4(PLCB1):c.189A>G (p.Leu63=) rs2122343551
NM_015192.4(PLCB1):c.18C>T (p.Pro6=) rs745497485
NM_015192.4(PLCB1):c.1902A>G (p.Gln634=)
NM_015192.4(PLCB1):c.1908T>C (p.Asn636=) rs778595698
NM_015192.4(PLCB1):c.1938T>C (p.Ser646=)
NM_015192.4(PLCB1):c.1944C>T (p.Tyr648=) rs200073364
NM_015192.4(PLCB1):c.1956A>G (p.Pro652=) rs2123500900
NM_015192.4(PLCB1):c.1971G>A (p.Arg657=) rs1184814410
NM_015192.4(PLCB1):c.1992A>G (p.Pro664=)
NM_015192.4(PLCB1):c.2037T>G (p.Ser679=) rs1980374821
NM_015192.4(PLCB1):c.2043+10C>A
NM_015192.4(PLCB1):c.2043+12C>A rs2123501040
NM_015192.4(PLCB1):c.2043+20A>C
NM_015192.4(PLCB1):c.2044-15T>A
NM_015192.4(PLCB1):c.2044-7T>C rs1600286973
NM_015192.4(PLCB1):c.204T>G (p.Leu68=)
NM_015192.4(PLCB1):c.2055T>C (p.Gly685=)
NM_015192.4(PLCB1):c.2076A>G (p.Lys692=)
NM_015192.4(PLCB1):c.2079T>C (p.Val693=)
NM_015192.4(PLCB1):c.2082G>T (p.Gly694=)
NM_015192.4(PLCB1):c.2100T>C (p.Asp700=) rs1810685406
NM_015192.4(PLCB1):c.2133G>A (p.Lys711=) rs1980624026
NM_015192.4(PLCB1):c.2209-8C>G
NM_015192.4(PLCB1):c.2209-9C>A
NM_015192.4(PLCB1):c.2256A>G (p.Glu752=)
NM_015192.4(PLCB1):c.2304G>C (p.Arg768=)
NM_015192.4(PLCB1):c.2308+10G>C
NM_015192.4(PLCB1):c.2308+11T>C
NM_015192.4(PLCB1):c.2309-5T>C rs2123518557
NM_015192.4(PLCB1):c.2316C>T (p.His772=)
NM_015192.4(PLCB1):c.2322C>T (p.Ile774=)
NM_015192.4(PLCB1):c.2331G>A (p.Arg777=)
NM_015192.4(PLCB1):c.2394T>C (p.Tyr798=)
NM_015192.4(PLCB1):c.2413+20T>C
NM_015192.4(PLCB1):c.2413+8A>G rs1332027028
NM_015192.4(PLCB1):c.2414-16T>C
NM_015192.4(PLCB1):c.2414-17A>C
NM_015192.4(PLCB1):c.2414-6A>G rs1980876450
NM_015192.4(PLCB1):c.2442C>A (p.Ile814=)
NM_015192.4(PLCB1):c.2448T>C (p.Tyr816=) rs2123521345
NM_015192.4(PLCB1):c.2457G>A (p.Leu819=)
NM_015192.4(PLCB1):c.246+18del
NM_015192.4(PLCB1):c.246+19T>G
NM_015192.4(PLCB1):c.246+9T>C rs2122343882
NM_015192.4(PLCB1):c.2466G>A (p.Gln822=) rs2123521405
NM_015192.4(PLCB1):c.247-13A>G
NM_015192.4(PLCB1):c.247-4C>T rs1183324381
NM_015192.4(PLCB1):c.2478A>G (p.Gln826=)
NM_015192.4(PLCB1):c.2523+11G>A rs2123521619
NM_015192.4(PLCB1):c.2523+17A>G
NM_015192.4(PLCB1):c.2524-16A>T
NM_015192.4(PLCB1):c.2524-17G>C
NM_015192.4(PLCB1):c.252C>A (p.Pro84=)
NM_015192.4(PLCB1):c.2538A>G (p.Glu846=)
NM_015192.4(PLCB1):c.2544A>G (p.Pro848=)
NM_015192.4(PLCB1):c.2547A>G (p.Ser849=) rs995924752
NM_015192.4(PLCB1):c.2571G>A (p.Thr857=) rs995077080
NM_015192.4(PLCB1):c.2598C>T (p.His866=)
NM_015192.4(PLCB1):c.2607C>T (p.Thr869=)
NM_015192.4(PLCB1):c.2625C>G (p.Pro875=) rs1600302170
NM_015192.4(PLCB1):c.2628C>T (p.Ser876=) rs747869213
NM_015192.4(PLCB1):c.2643C>T (p.Ser881=)
NM_015192.4(PLCB1):c.2656+12G>A
NM_015192.4(PLCB1):c.2656+19G>T rs1254067033
NM_015192.4(PLCB1):c.2656+20C>G
NM_015192.4(PLCB1):c.2657-10T>A
NM_015192.4(PLCB1):c.2657-10T>C
NM_015192.4(PLCB1):c.2657-18T>G
NM_015192.4(PLCB1):c.2657-19_2657-15del rs2123571999
NM_015192.4(PLCB1):c.2657-4A>G rs777637262
NM_015192.4(PLCB1):c.2658T>A (p.Gly886=) rs1420202284
NM_015192.4(PLCB1):c.2710+17C>T
NM_015192.4(PLCB1):c.2710+8C>G rs1981963703
NM_015192.4(PLCB1):c.2711-11A>C
NM_015192.4(PLCB1):c.2711-13T>C
NM_015192.4(PLCB1):c.2711-15A>G
NM_015192.4(PLCB1):c.2711-16T>C rs2123585570
NM_015192.4(PLCB1):c.2711-20T>C
NM_015192.4(PLCB1):c.2711-9T>C
NM_015192.4(PLCB1):c.2712A>G (p.Glu904=) rs2123585641
NM_015192.4(PLCB1):c.2754G>T (p.Ser918=)
NM_015192.4(PLCB1):c.2796C>T (p.Asp932=)
NM_015192.4(PLCB1):c.27C>T (p.His9=)
NM_015192.4(PLCB1):c.282C>T (p.Asn94=) rs1988422042
NM_015192.4(PLCB1):c.2835C>T (p.Ile945=)
NM_015192.4(PLCB1):c.285C>T (p.Ile95=)
NM_015192.4(PLCB1):c.2901A>G (p.Glu967=)
NM_015192.4(PLCB1):c.2930+14A>G
NM_015192.4(PLCB1):c.2930+17T>C
NM_015192.4(PLCB1):c.2931-10_2931-9del
NM_015192.4(PLCB1):c.2931-8C>G rs1982848887
NM_015192.4(PLCB1):c.2958T>C (p.Gly986=) rs1273351024
NM_015192.4(PLCB1):c.2997T>C (p.Ala999=)
NM_015192.4(PLCB1):c.3048G>A (p.Leu1016=)
NM_015192.4(PLCB1):c.3072T>C (p.Tyr1024=)
NM_015192.4(PLCB1):c.3093G>A (p.Lys1031=) rs2146203971
NM_015192.4(PLCB1):c.3111+16A>C
NM_015192.4(PLCB1):c.3112-10_3112-8del rs1163689360
NM_015192.4(PLCB1):c.3112-15A>G
NM_015192.4(PLCB1):c.3112-7T>C rs2146220088
NM_015192.4(PLCB1):c.3114T>C (p.Leu1038=)
NM_015192.4(PLCB1):c.3129G>A (p.Thr1043=) rs141102170
NM_015192.4(PLCB1):c.312A>G (p.Thr104=) rs776521907
NM_015192.4(PLCB1):c.3135C>A (p.Val1045=) rs577076166
NM_015192.4(PLCB1):c.3135C>T (p.Val1045=) rs577076166
NM_015192.4(PLCB1):c.3138A>G (p.Ala1046=)
NM_015192.4(PLCB1):c.3141A>G (p.Glu1047=) rs1983595733
NM_015192.4(PLCB1):c.3180C>A (p.Ile1060=) rs1043961648
NM_015192.4(PLCB1):c.3180C>T (p.Ile1060=)
NM_015192.4(PLCB1):c.3188+14C>A rs2146220288
NM_015192.4(PLCB1):c.3188+16C>T
NM_015192.4(PLCB1):c.3188+17A>G
NM_015192.4(PLCB1):c.3188+20A>G
NM_015192.4(PLCB1):c.3189-18C>T rs2146220402
NM_015192.4(PLCB1):c.3189-8G>A rs2146220422
NM_015192.4(PLCB1):c.318G>A (p.Val106=)
NM_015192.4(PLCB1):c.3237G>A (p.Lys1079=)
NM_015192.4(PLCB1):c.3249T>G (p.Ala1083=)
NM_015192.4(PLCB1):c.3278+10_3278+11del
NM_015192.4(PLCB1):c.3278+16C>A
NM_015192.4(PLCB1):c.3279-5T>C
NM_015192.4(PLCB1):c.3279-9del rs1983650147
NM_015192.4(PLCB1):c.3321G>A (p.Val1107=) rs1600329135
NM_015192.4(PLCB1):c.3336+17C>T
NM_015192.4(PLCB1):c.3336+18G>A
NM_015192.4(PLCB1):c.3336+18G>T
NM_015192.4(PLCB1):c.3337-15G>A
NM_015192.4(PLCB1):c.3337-6T>G rs2146222772
NM_015192.4(PLCB1):c.333C>G (p.Leu111=)
NM_015192.4(PLCB1):c.3348G>C (p.Ala1116=) rs587780417
NM_015192.4(PLCB1):c.3360G>A (p.Arg1120=) rs2146222865
NM_015192.4(PLCB1):c.3411T>C (p.Asp1137=)
NM_015192.4(PLCB1):c.3420C>A (p.Pro1140=) rs1213422177
NM_015192.4(PLCB1):c.3423+12T>G rs1041619042
NM_015192.4(PLCB1):c.3423+18A>C
NM_015192.4(PLCB1):c.3423+18A>T rs201519375
NM_015192.4(PLCB1):c.3424-11A>G
NM_015192.4(PLCB1):c.3424-17C>T
NM_015192.4(PLCB1):c.3424-18C>T
NM_015192.4(PLCB1):c.3424-19C>T rs2146337482
NM_015192.4(PLCB1):c.3477C>A (p.Leu1159=)
NM_015192.4(PLCB1):c.3513A>C (p.Gly1171=)
NM_015192.4(PLCB1):c.3513A>G (p.Gly1171=) rs781577271
NM_015192.4(PLCB1):c.3519C>T (p.Ile1173=)
NM_015192.4(PLCB1):c.3537C>T (p.His1179=)
NM_015192.4(PLCB1):c.3546C>T (p.Ala1182=) rs148236379
NM_015192.4(PLCB1):c.3549T>A (p.Pro1183=) rs780459225
NM_015192.4(PLCB1):c.3552C>T (p.Leu1184=) rs1008953911
NM_015192.4(PLCB1):c.3561C>T (p.Ser1187=)
NM_015192.4(PLCB1):c.3603G>A (p.Glu1201=)
NM_015192.4(PLCB1):c.360G>T (p.Val120=)
NM_015192.4(PLCB1):c.3648G>C (p.Leu1216=) rs2146337863
NM_015192.4(PLCB1):c.378G>T (p.Val126=)
NM_015192.4(PLCB1):c.384+17T>C
NM_015192.4(PLCB1):c.385-15A>C
NM_015192.4(PLCB1):c.420C>T (p.Asn140=)
NM_015192.4(PLCB1):c.423G>A (p.Leu141=)
NM_015192.4(PLCB1):c.441C>G (p.Ser147=) rs1031381948
NM_015192.4(PLCB1):c.450A>G (p.Ala150=)
NM_015192.4(PLCB1):c.45C>A (p.Pro15=) rs540174506
NM_015192.4(PLCB1):c.45C>G (p.Pro15=) rs540174506
NM_015192.4(PLCB1):c.464+11C>G
NM_015192.4(PLCB1):c.464+14A>T
NM_015192.4(PLCB1):c.464+16T>C
NM_015192.4(PLCB1):c.464+18T>A
NM_015192.4(PLCB1):c.464+20T>C rs2123286146
NM_015192.4(PLCB1):c.464+7C>G rs1193936118
NM_015192.4(PLCB1):c.465-13G>C
NM_015192.4(PLCB1):c.465-14T>C
NM_015192.4(PLCB1):c.483G>T (p.Leu161=) rs1989210406
NM_015192.4(PLCB1):c.492T>C (p.Thr164=)
NM_015192.4(PLCB1):c.507T>A (p.Ile169=)
NM_015192.4(PLCB1):c.518+14G>A
NM_015192.4(PLCB1):c.519-10C>T rs2123294964
NM_015192.4(PLCB1):c.519-13G>A rs2123294946
NM_015192.4(PLCB1):c.519-18G>A
NM_015192.4(PLCB1):c.519-19T>C rs754810660
NM_015192.4(PLCB1):c.519-20T>C rs2123294914
NM_015192.4(PLCB1):c.519-7_519-3del rs2123294953
NM_015192.4(PLCB1):c.550C>A (p.Arg184=) rs770826618
NM_015192.4(PLCB1):c.585A>G (p.Pro195=)
NM_015192.4(PLCB1):c.595-14_595-12del
NM_015192.4(PLCB1):c.595-17G>C
NM_015192.4(PLCB1):c.595-18C>T
NM_015192.4(PLCB1):c.595-4C>G
NM_015192.4(PLCB1):c.630A>G (p.Glu210=)
NM_015192.4(PLCB1):c.633G>T (p.Val211=)
NM_015192.4(PLCB1):c.63C>T (p.Ser21=) rs1256957868
NM_015192.4(PLCB1):c.672A>G (p.Glu224=) rs1555780720
NM_015192.4(PLCB1):c.695+11A>G
NM_015192.4(PLCB1):c.695+20G>A rs752982923
NM_015192.4(PLCB1):c.695+9A>G rs2123319106
NM_015192.4(PLCB1):c.696-8G>C rs1600230967
NM_015192.4(PLCB1):c.696-9del rs769183508
NM_015192.4(PLCB1):c.6C>G (p.Ala2=) rs752168839
NM_015192.4(PLCB1):c.6C>T (p.Ala2=) rs752168839
NM_015192.4(PLCB1):c.777T>C (p.Asn259=)
NM_015192.4(PLCB1):c.801A>G (p.Lys267=) rs1568549600
NM_015192.4(PLCB1):c.855C>T (p.Ala285=) rs1989536075
NM_015192.4(PLCB1):c.862+12C>G
NM_015192.4(PLCB1):c.862+13_862+16del
NM_015192.4(PLCB1):c.862+18C>T
NM_015192.4(PLCB1):c.862+19A>G
NM_015192.4(PLCB1):c.862+20C>T
NM_015192.4(PLCB1):c.863-15C>T rs2123399297
NM_015192.4(PLCB1):c.863-20T>C
NM_015192.4(PLCB1):c.863-7C>G rs1990322418
NM_015192.4(PLCB1):c.882G>A (p.Gly294=)
NM_015192.4(PLCB1):c.885C>T (p.Phe295=)
NM_015192.4(PLCB1):c.900T>C (p.Ser300=)
NM_015192.4(PLCB1):c.903A>G (p.Gly301=) rs1990323891
NM_015192.4(PLCB1):c.90G>A (p.Lys30=) rs777647424
NM_015192.4(PLCB1):c.918C>T (p.Val306=) rs1600250108
NM_015192.4(PLCB1):c.972C>T (p.His324=) rs1289654666
NM_015192.4(PLCB1):c.99+19C>T
NM_020708.5(SLC12A5):c.1011A>G (p.Arg337=)
NM_020708.5(SLC12A5):c.1017T>C (p.Asn339=)
NM_020708.5(SLC12A5):c.1020C>T (p.Val340=) rs775553439
NM_020708.5(SLC12A5):c.1050C>A (p.Ala350=) rs1568861790
NM_020708.5(SLC12A5):c.1056C>T (p.Gly352=) rs768786111
NM_020708.5(SLC12A5):c.1066+14C>T rs1324741256
NM_020708.5(SLC12A5):c.1066+18G>A
NM_020708.5(SLC12A5):c.1066+7G>A
NM_020708.5(SLC12A5):c.1067-12G>A
NM_020708.5(SLC12A5):c.1067-12G>T
NM_020708.5(SLC12A5):c.1067-14_1067-13del rs1191018482
NM_020708.5(SLC12A5):c.1067-18C>T
NM_020708.5(SLC12A5):c.1067-20A>C rs2145491341
NM_020708.5(SLC12A5):c.1067-4A>G
NM_020708.5(SLC12A5):c.1071C>T (p.Asn357=)
NM_020708.5(SLC12A5):c.1074C>T (p.Leu358=)
NM_020708.5(SLC12A5):c.1086C>T (p.Tyr362=)
NM_020708.5(SLC12A5):c.1089G>T (p.Leu363=)
NM_020708.5(SLC12A5):c.1098C>G (p.Gly366=) rs770170831
NM_020708.5(SLC12A5):c.1098C>T (p.Gly366=) rs770170831
NM_020708.5(SLC12A5):c.1119G>A (p.Gly373=) rs986597650
NM_020708.5(SLC12A5):c.1125C>A (p.Thr375=)
NM_020708.5(SLC12A5):c.1125C>T (p.Thr375=)
NM_020708.5(SLC12A5):c.1146C>T (p.Gly382=)
NM_020708.5(SLC12A5):c.1164C>T (p.Asp388=)
NM_020708.5(SLC12A5):c.1194C>T (p.Ser398=)
NM_020708.5(SLC12A5):c.1237+11G>T
NM_020708.5(SLC12A5):c.1237+13_1237+20dup
NM_020708.5(SLC12A5):c.1238-10T>C
NM_020708.5(SLC12A5):c.1238-4G>A
NM_020708.5(SLC12A5):c.1238-9G>A
NM_020708.5(SLC12A5):c.1314C>T (p.Ala438=)
NM_020708.5(SLC12A5):c.1336+18G>A
NM_020708.5(SLC12A5):c.1337-9C>T
NM_020708.5(SLC12A5):c.1374G>A (p.Glu458=) rs145624716
NM_020708.5(SLC12A5):c.1383C>A (p.Val461=)
NM_020708.5(SLC12A5):c.1386G>A (p.Leu462=)
NM_020708.5(SLC12A5):c.1394+12G>A
NM_020708.5(SLC12A5):c.1394+16T>G
NM_020708.5(SLC12A5):c.1395-12A>T
NM_020708.5(SLC12A5):c.1395-6T>C
NM_020708.5(SLC12A5):c.1434T>G (p.Thr478=)
NM_020708.5(SLC12A5):c.1435C>T (p.Leu479=)
NM_020708.5(SLC12A5):c.1437G>A (p.Leu479=)
NM_020708.5(SLC12A5):c.147+14G>A
NM_020708.5(SLC12A5):c.147+17G>A
NM_020708.5(SLC12A5):c.147+19T>G
NM_020708.5(SLC12A5):c.147+8G>T
NM_020708.5(SLC12A5):c.147+9C>T rs2145481731
NM_020708.5(SLC12A5):c.148-10C>T
NM_020708.5(SLC12A5):c.148-13C>T
NM_020708.5(SLC12A5):c.148-4A>G
NM_020708.5(SLC12A5):c.148-8C>T rs1413620669
NM_020708.5(SLC12A5):c.1500G>A (p.Leu500=) rs2145493717
NM_020708.5(SLC12A5):c.1500G>T (p.Leu500=)
NM_020708.5(SLC12A5):c.1530G>C (p.Leu510=) rs1600598728
NM_020708.5(SLC12A5):c.1536C>G (p.Ala512=) rs2145493756
NM_020708.5(SLC12A5):c.1542G>A (p.Ser514=) rs771067022
NM_020708.5(SLC12A5):c.1564C>T (p.Leu522=) rs1600598775
NM_020708.5(SLC12A5):c.1566G>A (p.Leu522=) rs759768562
NM_020708.5(SLC12A5):c.1569+15A>G
NM_020708.5(SLC12A5):c.1569+18A>G
NM_020708.5(SLC12A5):c.1569+19C>G
NM_020708.5(SLC12A5):c.1569+9G>A rs1331325326
NM_020708.5(SLC12A5):c.1570-11T>C rs1276719019
NM_020708.5(SLC12A5):c.1570-12C>A
NM_020708.5(SLC12A5):c.1570-5C>T
NM_020708.5(SLC12A5):c.1570-6C>T rs2084590595
NM_020708.5(SLC12A5):c.1581T>C (p.His527=) rs923053406
NM_020708.5(SLC12A5):c.1593T>C (p.Asn531=)
NM_020708.5(SLC12A5):c.1596A>G (p.Gly532=) rs2145494688
NM_020708.5(SLC12A5):c.1602G>A (p.Pro534=) rs761507003
NM_020708.5(SLC12A5):c.1629C>T (p.Cys543=)
NM_020708.5(SLC12A5):c.1662C>A (p.Leu554=)
NM_020708.5(SLC12A5):c.1688+12A>G
NM_020708.5(SLC12A5):c.1688+14T>C
NM_020708.5(SLC12A5):c.1689-16C>T
NM_020708.5(SLC12A5):c.1689-17G>A rs750984148
NM_020708.5(SLC12A5):c.1689-7G>A rs2084595386
NM_020708.5(SLC12A5):c.1689-9G>A
NM_020708.5(SLC12A5):c.1767A>G (p.Pro589=)
NM_020708.5(SLC12A5):c.1785C>T (p.His595=) rs1364638744
NM_020708.5(SLC12A5):c.1787+14C>T
NM_020708.5(SLC12A5):c.1787+16C>T
NM_020708.5(SLC12A5):c.1787+8C>T rs775097455
NM_020708.5(SLC12A5):c.1788-12C>A
NM_020708.5(SLC12A5):c.1788-17C>A
NM_020708.5(SLC12A5):c.1788-6G>T
NM_020708.5(SLC12A5):c.1788-9C>G
NM_020708.5(SLC12A5):c.1806C>A (p.Gly602=) rs140595322
NM_020708.5(SLC12A5):c.1806C>T (p.Gly602=)
NM_020708.5(SLC12A5):c.1824C>T (p.Ala608=) rs959050230
NM_020708.5(SLC12A5):c.1836C>T (p.Ile612=)
NM_020708.5(SLC12A5):c.1854A>G (p.Ala618=)
NM_020708.5(SLC12A5):c.1857G>A (p.Leu619=)
NM_020708.5(SLC12A5):c.1890G>A (p.Lys630=)
NM_020708.5(SLC12A5):c.1907+7G>A
NM_020708.5(SLC12A5):c.1908-10C>T
NM_020708.5(SLC12A5):c.1908-11C>T
NM_020708.5(SLC12A5):c.1908-15C>T
NM_020708.5(SLC12A5):c.1908-9G>C
NM_020708.5(SLC12A5):c.192C>A (p.Gly64=) rs771247445
NM_020708.5(SLC12A5):c.1989G>A (p.Gly663=) rs373648545
NM_020708.5(SLC12A5):c.1998C>T (p.His666=)
NM_020708.5(SLC12A5):c.2012+14G>A
NM_020708.5(SLC12A5):c.2012+18G>A
NM_020708.5(SLC12A5):c.2012+18G>T
NM_020708.5(SLC12A5):c.2013-15_2013-14del
NM_020708.5(SLC12A5):c.2020C>T (p.Leu674=) rs1271881068
NM_020708.5(SLC12A5):c.2022G>T (p.Leu674=)
NM_020708.5(SLC12A5):c.2067C>T (p.Pro689=) rs1383910539
NM_020708.5(SLC12A5):c.2073G>A (p.Leu691=) rs778428073
NM_020708.5(SLC12A5):c.207C>T (p.Thr69=) rs2145482217
NM_020708.5(SLC12A5):c.2082G>A (p.Leu694=) rs2145499570
NM_020708.5(SLC12A5):c.2110C>T (p.Leu704=) rs1600602344
NM_020708.5(SLC12A5):c.2130C>A (p.Val710=) rs2145499678
NM_020708.5(SLC12A5):c.213G>T (p.Leu71=)
NM_020708.5(SLC12A5):c.2142C>A (p.Thr714=) rs1026017018
NM_020708.5(SLC12A5):c.2142C>G (p.Thr714=)
NM_020708.5(SLC12A5):c.2170C>A (p.Arg724=) rs532191036
NM_020708.5(SLC12A5):c.2181+9A>C
NM_020708.5(SLC12A5):c.2182-10C>G
NM_020708.5(SLC12A5):c.2182-11C>T rs369990409
NM_020708.5(SLC12A5):c.2182-4C>T
NM_020708.5(SLC12A5):c.2182-5C>G
NM_020708.5(SLC12A5):c.219G>A (p.Gln73=)
NM_020708.5(SLC12A5):c.2202G>A (p.Glu734=) rs2145501982
NM_020708.5(SLC12A5):c.2211G>A (p.Lys737=) rs1181584422
NM_020708.5(SLC12A5):c.225T>C (p.Ser75=)
NM_020708.5(SLC12A5):c.2283G>A (p.Gly761=) rs2084648859
NM_020708.5(SLC12A5):c.2286C>A (p.Gly762=)
NM_020708.5(SLC12A5):c.2286C>T (p.Gly762=) rs766120516
NM_020708.5(SLC12A5):c.2292G>A (p.Gly764=) rs79522550
NM_020708.5(SLC12A5):c.2301G>A (p.Gln767=)
NM_020708.5(SLC12A5):c.2313G>A (p.Val771=)
NM_020708.5(SLC12A5):c.231G>A (p.Glu77=)
NM_020708.5(SLC12A5):c.2331C>T (p.Arg777=)
NM_020708.5(SLC12A5):c.2367G>A (p.Arg789=)
NM_020708.5(SLC12A5):c.2377+11T>C
NM_020708.5(SLC12A5):c.2377+13G>A
NM_020708.5(SLC12A5):c.2377+15G>A
NM_020708.5(SLC12A5):c.2377+23_2377+45del
NM_020708.5(SLC12A5):c.2377+9_2377+11del rs2145502204
NM_020708.5(SLC12A5):c.2378-11G>C
NM_020708.5(SLC12A5):c.2378-13T>G
NM_020708.5(SLC12A5):c.2378-15C>T
NM_020708.5(SLC12A5):c.2378-9C>T
NM_020708.5(SLC12A5):c.2385C>A (p.Val795=)
NM_020708.5(SLC12A5):c.2385C>T (p.Val795=)
NM_020708.5(SLC12A5):c.2433T>C (p.Val811=)
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862
NM_020708.5(SLC12A5):c.2478C>T (p.Ile826=)
NM_020708.5(SLC12A5):c.2493T>A (p.Ile831=) rs2084660049
NM_020708.5(SLC12A5):c.2502T>C (p.Asp834=) rs2145503678
NM_020708.5(SLC12A5):c.2514C>T (p.Leu838=) rs768958786
NM_020708.5(SLC12A5):c.2520G>A (p.Leu840=)
NM_020708.5(SLC12A5):c.2526C>T (p.Pro842=)
NM_020708.5(SLC12A5):c.252T>C (p.Asn84=)
NM_020708.5(SLC12A5):c.2547+12G>A rs1475116544
NM_020708.5(SLC12A5):c.2547+8G>T rs1555867366
NM_020708.5(SLC12A5):c.2548-18C>T
NM_020708.5(SLC12A5):c.2548-5_2548-4delinsCT rs1600604943
NM_020708.5(SLC12A5):c.2548-8G>T
NM_020708.5(SLC12A5):c.2577C>T (p.Phe859=) rs2145504264
NM_020708.5(SLC12A5):c.2628C>T (p.Thr876=)
NM_020708.5(SLC12A5):c.2655T>C (p.Thr885=)
NM_020708.5(SLC12A5):c.2664C>G (p.Val888=) rs1053574223
NM_020708.5(SLC12A5):c.2664C>T (p.Val888=) rs1053574223
NM_020708.5(SLC12A5):c.2679+13G>A
NM_020708.5(SLC12A5):c.2679+13G>T
NM_020708.5(SLC12A5):c.2679+14A>G
NM_020708.5(SLC12A5):c.2679+19C>A
NM_020708.5(SLC12A5):c.2679+8C>A rs771536557
NM_020708.5(SLC12A5):c.2680-12G>C
NM_020708.5(SLC12A5):c.2680-14C>T
NM_020708.5(SLC12A5):c.2680-20C>T
NM_020708.5(SLC12A5):c.2680-5C>T
NM_020708.5(SLC12A5):c.2703C>T (p.Tyr901=)
NM_020708.5(SLC12A5):c.2706C>T (p.Thr902=)
NM_020708.5(SLC12A5):c.2719T>C (p.Leu907=)
NM_020708.5(SLC12A5):c.2721G>A (p.Leu907=)
NM_020708.5(SLC12A5):c.2760T>C (p.His920=) rs1600605834
NM_020708.5(SLC12A5):c.276G>A (p.Val92=)
NM_020708.5(SLC12A5):c.2782C>A (p.Arg928=) rs751455156
NM_020708.5(SLC12A5):c.2787+10C>T
NM_020708.5(SLC12A5):c.2787+11C>A rs1483499586
NM_020708.5(SLC12A5):c.2787+12C>G rs2084677788
NM_020708.5(SLC12A5):c.2787+17T>A rs2145506047
NM_020708.5(SLC12A5):c.2788-14A>G
NM_020708.5(SLC12A5):c.2788-8C>T rs2145507462
NM_020708.5(SLC12A5):c.279+8C>A rs2145482332
NM_020708.5(SLC12A5):c.2799C>T (p.Ile933=) rs2145507474
NM_020708.5(SLC12A5):c.280-16C>A
NM_020708.5(SLC12A5):c.280-17G>A
NM_020708.5(SLC12A5):c.280-18T>C rs953607328
NM_020708.5(SLC12A5):c.280-19A>T rs2145482712
NM_020708.5(SLC12A5):c.280-20G>C rs2145482709
NM_020708.5(SLC12A5):c.280-8C>G
NM_020708.5(SLC12A5):c.2802A>C (p.Thr934=)
NM_020708.5(SLC12A5):c.2811A>T (p.Ser937=) rs1296196636
NM_020708.5(SLC12A5):c.2812C>A (p.Arg938=)
NM_020708.5(SLC12A5):c.2847G>A (p.Thr949=)
NM_020708.5(SLC12A5):c.2856C>T (p.Arg952=) rs2084690897
NM_020708.5(SLC12A5):c.2868A>G (p.Pro956=)
NM_020708.5(SLC12A5):c.2874G>A (p.Glu958=)
NM_020708.5(SLC12A5):c.288C>T (p.Arg96=)
NM_020708.5(SLC12A5):c.2907G>A (p.Glu969=)
NM_020708.5(SLC12A5):c.2910+16G>T rs2145507733
NM_020708.5(SLC12A5):c.2910+19T>C
NM_020708.5(SLC12A5):c.2910+9C>T
NM_020708.5(SLC12A5):c.2910+9del rs773293457
NM_020708.5(SLC12A5):c.2911-10C>T
NM_020708.5(SLC12A5):c.2911-5C>T
NM_020708.5(SLC12A5):c.2911-7C>A
NM_020708.5(SLC12A5):c.2925C>T (p.His975=) rs778476586
NM_020708.5(SLC12A5):c.294C>A (p.Gly98=)
NM_020708.5(SLC12A5):c.2958C>T (p.Ser986=)
NM_020708.5(SLC12A5):c.2960C>T (p.Pro987Leu)
NM_020708.5(SLC12A5):c.2985G>A (p.Gly995=) rs2145508040
NM_020708.5(SLC12A5):c.2991G>A (p.Gly997=)
NM_020708.5(SLC12A5):c.3009G>A (p.Lys1003=)
NM_020708.5(SLC12A5):c.3015T>C (p.His1005=) rs2145508104
NM_020708.5(SLC12A5):c.3027C>A (p.Thr1009=)
NM_020708.5(SLC12A5):c.3027C>G (p.Thr1009=) rs201194560
NM_020708.5(SLC12A5):c.3051G>A (p.Lys1017=)
NM_020708.5(SLC12A5):c.3072C>G (p.Val1024=)
NM_020708.5(SLC12A5):c.3075C>T (p.Ser1025=)
NM_020708.5(SLC12A5):c.309G>A (p.Val103=) rs748333271
NM_020708.5(SLC12A5):c.30C>T (p.Asp10=)
NM_020708.5(SLC12A5):c.3110+10T>C rs2145508277
NM_020708.5(SLC12A5):c.3110+14G>A
NM_020708.5(SLC12A5):c.3125+12A>G
NM_020708.5(SLC12A5):c.3125+20T>C
NM_020708.5(SLC12A5):c.3125+7G>A
NM_020708.5(SLC12A5):c.3126-10C>G
NM_020708.5(SLC12A5):c.3126-14_3126-12del
NM_020708.5(SLC12A5):c.3126-17C>T
NM_020708.5(SLC12A5):c.3126-19C>T rs766692928
NM_020708.5(SLC12A5):c.3126-20A>C
NM_020708.5(SLC12A5):c.3126-5del
NM_020708.5(SLC12A5):c.3156G>A (p.Thr1052=) rs200558731
NM_020708.5(SLC12A5):c.3163C>A (p.Arg1055=) rs2084704107
NM_020708.5(SLC12A5):c.3168G>C (p.Leu1056=)
NM_020708.5(SLC12A5):c.3178A>G (p.Ile1060Val) rs770196677
NM_020708.5(SLC12A5):c.3180C>T (p.Ile1060=)
NM_020708.5(SLC12A5):c.3186G>A (p.Lys1062=)
NM_020708.5(SLC12A5):c.318G>T (p.Pro106=)
NM_020708.5(SLC12A5):c.3192C>T (p.Ser1064=)
NM_020708.5(SLC12A5):c.3195G>C (p.Arg1065=) rs2145509221
NM_020708.5(SLC12A5):c.3219C>T (p.Asn1073=)
NM_020708.5(SLC12A5):c.3240C>T (p.Asn1080=) rs912083023
NM_020708.5(SLC12A5):c.3243C>T (p.Arg1081=)
NM_020708.5(SLC12A5):c.3260-14T>A
NM_020708.5(SLC12A5):c.3260-16C>G
NM_020708.5(SLC12A5):c.3260-9G>C rs371575101
NM_020708.5(SLC12A5):c.3285A>T (p.Thr1095=) rs2145509644
NM_020708.5(SLC12A5):c.3288G>A (p.Glu1096=)
NM_020708.5(SLC12A5):c.3294G>A (p.Leu1098=)
NM_020708.5(SLC12A5):c.3300G>C (p.Arg1100=)
NM_020708.5(SLC12A5):c.3307C>T (p.Leu1103=)
NM_020708.5(SLC12A5):c.3342C>T (p.Ile1114=) rs2145509716
NM_020708.5(SLC12A5):c.3348C>A (p.Ser1116=)
NM_020708.5(SLC12A5):c.33C>A (p.Gly11=) rs2145473814
NM_020708.5(SLC12A5):c.363C>G (p.Thr121=)
NM_020708.5(SLC12A5):c.369G>A (p.Val123=) rs2084494146
NM_020708.5(SLC12A5):c.39G>C (p.Gly13=) rs2145473827
NM_020708.5(SLC12A5):c.426+11C>A
NM_020708.5(SLC12A5):c.426+12C>A
NM_020708.5(SLC12A5):c.426+12C>G
NM_020708.5(SLC12A5):c.426+13C>G
NM_020708.5(SLC12A5):c.426+16C>A
NM_020708.5(SLC12A5):c.426+17C>G
NM_020708.5(SLC12A5):c.426+18C>A
NM_020708.5(SLC12A5):c.427-6T>C
NM_020708.5(SLC12A5):c.427-7C>G rs2145483872
NM_020708.5(SLC12A5):c.427-9dup
NM_020708.5(SLC12A5):c.429G>A (p.Thr143=) rs749462257
NM_020708.5(SLC12A5):c.435C>T (p.Leu145=) rs1600591942
NM_020708.5(SLC12A5):c.447C>T (p.Ser149=)
NM_020708.5(SLC12A5):c.45C>G (p.Ala15=)
NM_020708.5(SLC12A5):c.45C>T (p.Ala15=)
NM_020708.5(SLC12A5):c.477G>T (p.Val159=)
NM_020708.5(SLC12A5):c.481+10T>G
NM_020708.5(SLC12A5):c.481+12G>A
NM_020708.5(SLC12A5):c.481+17T>C
NM_020708.5(SLC12A5):c.482-6C>T
NM_020708.5(SLC12A5):c.482-8C>T
NM_020708.5(SLC12A5):c.48C>T (p.Asn16=)
NM_020708.5(SLC12A5):c.519C>A (p.Gly173=) rs1274799788
NM_020708.5(SLC12A5):c.52+13C>G
NM_020708.5(SLC12A5):c.52+15G>A
NM_020708.5(SLC12A5):c.52+15G>C
NM_020708.5(SLC12A5):c.52+19G>A
NM_020708.5(SLC12A5):c.52+9T>C
NM_020708.5(SLC12A5):c.53-9C>A rs2145481592
NM_020708.5(SLC12A5):c.609G>A (p.Leu203=)
NM_020708.5(SLC12A5):c.612+13GAG[2] rs777279837
NM_020708.5(SLC12A5):c.613-14C>T
NM_020708.5(SLC12A5):c.613-18C>T rs965878928
NM_020708.5(SLC12A5):c.613-5C>T
NM_020708.5(SLC12A5):c.636C>T (p.Ala212=)
NM_020708.5(SLC12A5):c.645G>A (p.Lys215=)
NM_020708.5(SLC12A5):c.669A>G (p.Ala223=) rs932821826
NM_020708.5(SLC12A5):c.675C>T (p.Ala225=)
NM_020708.5(SLC12A5):c.6A>G (p.Leu2=)
NM_020708.5(SLC12A5):c.714C>T (p.Leu238=)
NM_020708.5(SLC12A5):c.729T>A (p.Thr243=)
NM_020708.5(SLC12A5):c.732G>T (p.Val244=) rs2145487973
NM_020708.5(SLC12A5):c.756C>T (p.Val252=) rs1206373570
NM_020708.5(SLC12A5):c.75C>T (p.Ser25=)
NM_020708.5(SLC12A5):c.802C>T (p.Leu268=)
NM_020708.5(SLC12A5):c.828G>A (p.Lys276=)
NM_020708.5(SLC12A5):c.837C>T (p.Phe279=)
NM_020708.5(SLC12A5):c.854+13G>T
NM_020708.5(SLC12A5):c.854+14C>G
NM_020708.5(SLC12A5):c.855-18C>T
NM_020708.5(SLC12A5):c.855-6C>T rs774297761
NM_020708.5(SLC12A5):c.855-9T>A rs2145488945
NM_020708.5(SLC12A5):c.865C>T (p.Leu289=) rs2145488960
NM_020708.5(SLC12A5):c.879G>A (p.Thr293=) rs138406290
NM_020708.5(SLC12A5):c.894C>T (p.Gly298=)
NM_020708.5(SLC12A5):c.903C>T (p.Val301=) rs2145489026
NM_020708.5(SLC12A5):c.909C>G (p.Ala303=)
NM_020708.5(SLC12A5):c.927A>G (p.Gly309=) rs528584481
NM_020708.5(SLC12A5):c.939G>A (p.Val313=) rs149300952
NM_020708.5(SLC12A5):c.946C>A (p.Arg316=) rs373725781
NM_020708.5(SLC12A5):c.949C>T (p.Leu317=) rs775678070
NM_020708.5(SLC12A5):c.951A>G (p.Leu317=)
NM_020708.5(SLC12A5):c.951A>T (p.Leu317=)
NM_020708.5(SLC12A5):c.975C>T (p.Arg325=)
NM_020708.5(SLC12A5):c.978C>T (p.Phe326=)
NM_020708.5(SLC12A5):c.9C>T (p.Asn3=)
NM_020822.3(KCNT1):c.1011G>A (p.Val337=) rs1831789283
NM_020822.3(KCNT1):c.1017C>T (p.Leu339=)
NM_020822.3(KCNT1):c.1020G>A (p.Val340=) rs749129414
NM_020822.3(KCNT1):c.1029A>G (p.Pro343=)
NM_020822.3(KCNT1):c.1032G>A (p.Leu344=) rs1057521705
NM_020822.3(KCNT1):c.1035+12G>A
NM_020822.3(KCNT1):c.1035+14G>A
NM_020822.3(KCNT1):c.1035+20G>A
NM_020822.3(KCNT1):c.1035+22_1035+37dup
NM_020822.3(KCNT1):c.1035+7C>A
NM_020822.3(KCNT1):c.1036-8del rs766451840
NM_020822.3(KCNT1):c.1036-9C>T
NM_020822.3(KCNT1):c.1080G>C (p.Gly360=)
NM_020822.3(KCNT1):c.1083C>T (p.Gly361=)
NM_020822.3(KCNT1):c.1089C>T (p.Tyr363=) rs1832164748
NM_020822.3(KCNT1):c.108C>T (p.Pro36=)
NM_020822.3(KCNT1):c.110+11C>T
NM_020822.3(KCNT1):c.110+16C>A
NM_020822.3(KCNT1):c.110+7T>A
NM_020822.3(KCNT1):c.110+9T>G
NM_020822.3(KCNT1):c.111-11dup
NM_020822.3(KCNT1):c.111-12G>C rs768967168
NM_020822.3(KCNT1):c.111-18G>C
NM_020822.3(KCNT1):c.111-4G>A
NM_020822.3(KCNT1):c.111-6C>T
NM_020822.3(KCNT1):c.111-8G>C rs779128853
NM_020822.3(KCNT1):c.111-8G>T rs779128853
NM_020822.3(KCNT1):c.1128G>A (p.Leu376=)
NM_020822.3(KCNT1):c.1155T>C (p.Leu385=) rs756900818
NM_020822.3(KCNT1):c.1194G>A (p.Arg398=)
NM_020822.3(KCNT1):c.1194G>T (p.Arg398=) rs781506115
NM_020822.3(KCNT1):c.11C>G (p.Pro4Arg) rs747733979
NM_020822.3(KCNT1):c.1200+17T>C
NM_020822.3(KCNT1):c.1200+8C>G
NM_020822.3(KCNT1):c.1201-17C>G
NM_020822.3(KCNT1):c.1201-4G>A rs2131477231
NM_020822.3(KCNT1):c.1215C>A (p.Val405=)
NM_020822.3(KCNT1):c.1218C>T (p.Ile406=)
NM_020822.3(KCNT1):c.123G>A (p.Ala41=) rs1352859989
NM_020822.3(KCNT1):c.1251C>G (p.Arg417=)
NM_020822.3(KCNT1):c.126G>A (p.Gly42=) rs1278186698
NM_020822.3(KCNT1):c.126G>T (p.Gly42=) rs1278186698
NM_020822.3(KCNT1):c.1284G>A (p.Arg428=) rs943112493
NM_020822.3(KCNT1):c.1287C>A (p.Val429=)
NM_020822.3(KCNT1):c.1287C>T (p.Val429=)
NM_020822.3(KCNT1):c.1296C>G (p.Leu432=) rs1057524172
NM_020822.3(KCNT1):c.129C>T (p.Asp43=)
NM_020822.3(KCNT1):c.1306G>A (p.Ala436Thr) rs1832220041
NM_020822.3(KCNT1):c.1311C>G (p.Leu437=) rs770741523
NM_020822.3(KCNT1):c.1317C>T (p.Asp439=) rs2131477940
NM_020822.3(KCNT1):c.1326C>T (p.Leu442=) rs200910140
NM_020822.3(KCNT1):c.1326_1327delinsAT (p.Met443Leu) rs1554773537
NM_020822.3(KCNT1):c.1335C>T (p.Ala445=) rs751944320
NM_020822.3(KCNT1):c.1337+12T>A
NM_020822.3(KCNT1):c.1337+15G>A
NM_020822.3(KCNT1):c.1337+9T>C
NM_020822.3(KCNT1):c.1338-11G>A
NM_020822.3(KCNT1):c.1338-12G>C
NM_020822.3(KCNT1):c.1338-12G>T rs1015003209
NM_020822.3(KCNT1):c.1338-16C>A
NM_020822.3(KCNT1):c.1338-7A>G
NM_020822.3(KCNT1):c.1353G>A (p.Glu451=) rs1832498978
NM_020822.3(KCNT1):c.135G>A (p.Ala45=) rs769898346
NM_020822.3(KCNT1):c.135G>C (p.Ala45=) rs769898346
NM_020822.3(KCNT1):c.135G>T (p.Ala45=)
NM_020822.3(KCNT1):c.1365C>A (p.Ile455=)
NM_020822.3(KCNT1):c.139C>T (p.Leu47=) rs2131329270
NM_020822.3(KCNT1):c.1401+17C>T
NM_020822.3(KCNT1):c.1401+7G>A rs2131496908
NM_020822.3(KCNT1):c.1402-13C>T
NM_020822.3(KCNT1):c.1407C>T (p.His469=) rs537722828
NM_020822.3(KCNT1):c.1409A>G (p.Gln470Arg) rs773888049
NM_020822.3(KCNT1):c.1416C>T (p.Ile472=)
NM_020822.3(KCNT1):c.1434G>A (p.Val478=)
NM_020822.3(KCNT1):c.1440C>T (p.Asp480=) rs2131497788
NM_020822.3(KCNT1):c.1455C>T (p.Cys485=)
NM_020822.3(KCNT1):c.1458C>A (p.Pro486=)
NM_020822.3(KCNT1):c.1461C>T (p.Leu487=) rs763089040
NM_020822.3(KCNT1):c.1473C>A (p.Ile491=)
NM_020822.3(KCNT1):c.1473C>T (p.Ile491=) rs1832518596
NM_020822.3(KCNT1):c.147C>A (p.Thr49=) rs751274694
NM_020822.3(KCNT1):c.147C>G (p.Thr49=)
NM_020822.3(KCNT1):c.1488C>T (p.Asn496=)
NM_020822.3(KCNT1):c.150C>A (p.Ala50=) rs761304952
NM_020822.3(KCNT1):c.1510+10G>C rs921050767
NM_020822.3(KCNT1):c.1510+14A>G
NM_020822.3(KCNT1):c.1510+15C>A rs1416512239
NM_020822.3(KCNT1):c.1510+17C>T
NM_020822.3(KCNT1):c.1510+18G>A
NM_020822.3(KCNT1):c.1510+31_1510+70del rs780670028
NM_020822.3(KCNT1):c.1510+7C>T
NM_020822.3(KCNT1):c.1510+8T>C
NM_020822.3(KCNT1):c.1511-10C>T
NM_020822.3(KCNT1):c.1511-11A>T rs2131504578
NM_020822.3(KCNT1):c.1511-12C>A rs549024643
NM_020822.3(KCNT1):c.1511-12C>T
NM_020822.3(KCNT1):c.1511-13C>T
NM_020822.3(KCNT1):c.1511-19C>T rs2131504498
NM_020822.3(KCNT1):c.1512C>T (p.Asp504=)
NM_020822.3(KCNT1):c.1518G>A (p.Val506=)
NM_020822.3(KCNT1):c.152G>C (p.Gly51Ala) rs1554763393
NM_020822.3(KCNT1):c.1594C>T (p.Leu532=)
NM_020822.3(KCNT1):c.1596G>A (p.Leu532=)
NM_020822.3(KCNT1):c.1602G>A (p.Val534=) rs2131505379
NM_020822.3(KCNT1):c.1611C>G (p.Ser537=) rs2131505461
NM_020822.3(KCNT1):c.1619+12G>A
NM_020822.3(KCNT1):c.1619+13T>A rs2131505684
NM_020822.3(KCNT1):c.1619+13_1619+19del
NM_020822.3(KCNT1):c.1619+16C>T
NM_020822.3(KCNT1):c.1619+17C>A rs1384470539
NM_020822.3(KCNT1):c.1619+17C>T
NM_020822.3(KCNT1):c.1619+18C>G
NM_020822.3(KCNT1):c.1619+19G>A rs374386910
NM_020822.3(KCNT1):c.1619+20_1619+27del rs1064795535
NM_020822.3(KCNT1):c.1619+5GTGCCCC[3] rs573524284
NM_020822.3(KCNT1):c.1620-12C>T
NM_020822.3(KCNT1):c.1620-15C>G
NM_020822.3(KCNT1):c.1620-15_1620-5del rs761464076
NM_020822.3(KCNT1):c.1620-19G>A
NM_020822.3(KCNT1):c.1620-6C>T
NM_020822.3(KCNT1):c.1620-9G>C
NM_020822.3(KCNT1):c.1653C>T (p.Arg551=) rs1832666302
NM_020822.3(KCNT1):c.165C>T (p.Ser55=)
NM_020822.3(KCNT1):c.1683G>A (p.Val561=) rs1253303573
NM_020822.3(KCNT1):c.1686C>T (p.Tyr562=) rs760141025
NM_020822.3(KCNT1):c.1687C>T (p.His563Tyr) rs1190253737
NM_020822.3(KCNT1):c.1695C>A (p.Arg565=) rs553208215
NM_020822.3(KCNT1):c.1695C>T (p.Arg565=)
NM_020822.3(KCNT1):c.1704C>T (p.Asp568=)
NM_020822.3(KCNT1):c.1713C>T (p.Phe571=)
NM_020822.3(KCNT1):c.1731C>A (p.Gly577=)
NM_020822.3(KCNT1):c.1737C>T (p.Ser579=) rs775919081
NM_020822.3(KCNT1):c.173A>G (p.Asp58Gly) rs1588255313
NM_020822.3(KCNT1):c.1749G>C (p.Ala583=) rs17038714
NM_020822.3(KCNT1):c.174C>T (p.Asp58=) rs2131329369
NM_020822.3(KCNT1):c.1752C>T (p.Ala584=)
NM_020822.3(KCNT1):c.1764C>T (p.His588=)
NM_020822.3(KCNT1):c.1769+10G>C
NM_020822.3(KCNT1):c.1769+11del rs2131508480
NM_020822.3(KCNT1):c.1769+15_1769+16inv
NM_020822.3(KCNT1):c.1769+16A>C
NM_020822.3(KCNT1):c.1769+19C>T
NM_020822.3(KCNT1):c.1769+20A>G rs1057524400
NM_020822.3(KCNT1):c.1769+8C>A rs371287985
NM_020822.3(KCNT1):c.1770-10C>G
NM_020822.3(KCNT1):c.1770-20T>C rs1239661382
NM_020822.3(KCNT1):c.1770-7T>C
NM_020822.3(KCNT1):c.1779G>A (p.Val593=) rs748744989
NM_020822.3(KCNT1):c.1779G>T (p.Val593=) rs748744989
NM_020822.3(KCNT1):c.1794G>C (p.Leu598=) rs1588361953
NM_020822.3(KCNT1):c.1799G>A (p.Arg600Gln) rs773621687
NM_020822.3(KCNT1):c.1815C>T (p.Ser605=) rs113201678
NM_020822.3(KCNT1):c.1822C>T (p.Leu608=)
NM_020822.3(KCNT1):c.1824G>A (p.Leu608=) rs764141661
NM_020822.3(KCNT1):c.1830G>C (p.Pro610=) rs780892917
NM_020822.3(KCNT1):c.1839G>T (p.Arg613=)
NM_020822.3(KCNT1):c.183G>A (p.Val61=)
NM_020822.3(KCNT1):c.1860C>T (p.Asp620=)
NM_020822.3(KCNT1):c.1875C>T (p.Ile625=)
NM_020822.3(KCNT1):c.1881C>T (p.Ile627=) rs1554775088
NM_020822.3(KCNT1):c.1884C>A (p.Thr628=)
NM_020822.3(KCNT1):c.1884C>T (p.Thr628=)
NM_020822.3(KCNT1):c.1893G>A (p.Glu631=) rs2131511290
NM_020822.3(KCNT1):c.1911C>T (p.Phe637=)
NM_020822.3(KCNT1):c.1935G>A (p.Lys645=)
NM_020822.3(KCNT1):c.1950G>T (p.Gly650=)
NM_020822.3(KCNT1):c.1953G>A (p.Gln651=)
NM_020822.3(KCNT1):c.1956G>T (p.Gly652=)
NM_020822.3(KCNT1):c.1963G>C (p.Glu655Gln) rs770039542
NM_020822.3(KCNT1):c.1980G>A (p.Leu660=)
NM_020822.3(KCNT1):c.198G>A (p.Pro66=)
NM_020822.3(KCNT1):c.1998C>A (p.Ile666=) rs368777569
NM_020822.3(KCNT1):c.2001C>T (p.Ala667=)
NM_020822.3(KCNT1):c.2008+17G>A
NM_020822.3(KCNT1):c.2008+17G>C
NM_020822.3(KCNT1):c.2009-12G>A
NM_020822.3(KCNT1):c.2009-12G>C
NM_020822.3(KCNT1):c.2009-13G>T rs1391208726
NM_020822.3(KCNT1):c.2009-16C>T
NM_020822.3(KCNT1):c.2009-19G>A
NM_020822.3(KCNT1):c.2009-7C>T rs935840917
NM_020822.3(KCNT1):c.2016G>C (p.Val672=)
NM_020822.3(KCNT1):c.2019C>T (p.Ala673=)
NM_020822.3(KCNT1):c.2025C>T (p.Asp675=)
NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg) rs1060505000
NM_020822.3(KCNT1):c.2036C>T (p.Thr679Ile) rs2131520253
NM_020822.3(KCNT1):c.2039A>G (p.Glu680Gly) rs1207174167
NM_020822.3(KCNT1):c.204C>T (p.Tyr68=) rs2131329436
NM_020822.3(KCNT1):c.2055G>A (p.Gln685=)
NM_020822.3(KCNT1):c.2061C>A (p.Gly687=) rs748229745
NM_020822.3(KCNT1):c.2064T>C (p.Gly688=)
NM_020822.3(KCNT1):c.2073G>A (p.Gly691=)
NM_020822.3(KCNT1):c.2087C>T (p.Ala696Val) rs775382017
NM_020822.3(KCNT1):c.2089C>T (p.Leu697=) rs1218571907
NM_020822.3(KCNT1):c.2091G>A (p.Leu697=)
NM_020822.3(KCNT1):c.2109G>A (p.Ser703=) rs767200583
NM_020822.3(KCNT1):c.2121G>A (p.Arg707=) rs2131521147
NM_020822.3(KCNT1):c.2130C>T (p.Ile710=) rs1832851605
NM_020822.3(KCNT1):c.2146C>T (p.Leu716=) rs752522838
NM_020822.3(KCNT1):c.2151C>A (p.Ala717=)
NM_020822.3(KCNT1):c.2151C>T (p.Ala717=) rs758589013
NM_020822.3(KCNT1):c.2172C>G (p.Pro724=) rs1354699667
NM_020822.3(KCNT1):c.2172C>T (p.Pro724=)
NM_020822.3(KCNT1):c.2175C>T (p.Cys725=) rs368450848
NM_020822.3(KCNT1):c.2190C>T (p.Asp730=) rs2131521695
NM_020822.3(KCNT1):c.220C>T (p.Leu74=) rs943048769
NM_020822.3(KCNT1):c.2211G>T (p.Thr737=)
NM_020822.3(KCNT1):c.2214G>T (p.Pro738=)
NM_020822.3(KCNT1):c.2220C>T (p.Asp740=) rs148162797
NM_020822.3(KCNT1):c.2222A>G (p.Asp741Gly) rs756359375
NM_020822.3(KCNT1):c.2229G>A (p.Gly743=) rs1289338720
NM_020822.3(KCNT1):c.2229G>T (p.Gly743=) rs1289338720
NM_020822.3(KCNT1):c.2232C>G (p.Leu744=) rs1281401990
NM_020822.3(KCNT1):c.2238G>A (p.Val746=)
NM_020822.3(KCNT1):c.2243+10G>A
NM_020822.3(KCNT1):c.2243+10G>T
NM_020822.3(KCNT1):c.2243+20C>T rs989956820
NM_020822.3(KCNT1):c.2244-14G>A
NM_020822.3(KCNT1):c.2244-20G>A
NM_020822.3(KCNT1):c.2280C>T (p.Ile760=) rs370521183
NM_020822.3(KCNT1):c.2296C>T (p.Leu766=) rs2131535193
NM_020822.3(KCNT1):c.2325C>T (p.Pro775=)
NM_020822.3(KCNT1):c.2328C>T (p.Phe776=) rs1588376018
NM_020822.3(KCNT1):c.2337G>A (p.Leu779=) rs544099606
NM_020822.3(KCNT1):c.2338C>A (p.Arg780=)
NM_020822.3(KCNT1):c.2349+19C>T
NM_020822.3(KCNT1):c.2349+6G>T rs1418169170
NM_020822.3(KCNT1):c.2349+8del rs748745850
NM_020822.3(KCNT1):c.234G>A (p.Pro78=)
NM_020822.3(KCNT1):c.2350-11T>C
NM_020822.3(KCNT1):c.2350-13_2350-12insCCTGACTCCAGT
NM_020822.3(KCNT1):c.2350-8G>T
NM_020822.3(KCNT1):c.2370T>C (p.Tyr790=) rs1588380952
NM_020822.3(KCNT1):c.2391G>A (p.Gly797=) rs2131543508
NM_020822.3(KCNT1):c.2397G>A (p.Lys799=)
NM_020822.3(KCNT1):c.240C>T (p.Phe80=) rs1554763398
NM_020822.3(KCNT1):c.2415C>G (p.Val805=)
NM_020822.3(KCNT1):c.2418G>T (p.Ser806=) rs142726010
NM_020822.3(KCNT1):c.2433C>T (p.Gly811=)
NM_020822.3(KCNT1):c.2436T>C (p.Asn812=)
NM_020822.3(KCNT1):c.2451C>T (p.Phe817=) rs942926305
NM_020822.3(KCNT1):c.2457G>A (p.Val819=)
NM_020822.3(KCNT1):c.2464C>A (p.Arg822=)
NM_020822.3(KCNT1):c.2466G>A (p.Arg822=)
NM_020822.3(KCNT1):c.2466G>T (p.Arg822=)
NM_020822.3(KCNT1):c.2469C>A (p.Ala823=)
NM_020822.3(KCNT1):c.2475C>T (p.Tyr825=) rs2131543938
NM_020822.3(KCNT1):c.2493G>A (p.Leu831=)
NM_020822.3(KCNT1):c.2499C>T (p.Pro833=)
NM_020822.3(KCNT1):c.2505G>A (p.Val835=)
NM_020822.3(KCNT1):c.2509C>T (p.Leu837=) rs2131544108
NM_020822.3(KCNT1):c.2522+12G>A
NM_020822.3(KCNT1):c.2522+15G>A rs1313134564
NM_020822.3(KCNT1):c.2522+28_2522+36del rs759743096
NM_020822.3(KCNT1):c.2522+28_2522+36dup rs759743096
NM_020822.3(KCNT1):c.2522+28_2522+82del
NM_020822.3(KCNT1):c.2523-12C>T rs1007419018
NM_020822.3(KCNT1):c.2523-14C>T
NM_020822.3(KCNT1):c.2523-7C>T rs1287735480
NM_020822.3(KCNT1):c.254+10G>A
NM_020822.3(KCNT1):c.254+11_254+12insTAGGGACCGGGC
NM_020822.3(KCNT1):c.254+12_254+13insTG rs1443453581
NM_020822.3(KCNT1):c.254+15C>T
NM_020822.3(KCNT1):c.254+17G>A rs1425749928
NM_020822.3(KCNT1):c.254+18G>A
NM_020822.3(KCNT1):c.255-11T>C
NM_020822.3(KCNT1):c.255-14C>T
NM_020822.3(KCNT1):c.255-16CT[2] rs760287830
NM_020822.3(KCNT1):c.255-18C>T
NM_020822.3(KCNT1):c.2592C>T (p.Asp864=)
NM_020822.3(KCNT1):c.2594+10G>A rs2131548582
NM_020822.3(KCNT1):c.2594+13C>T
NM_020822.3(KCNT1):c.2594+7C>A rs545094921
NM_020822.3(KCNT1):c.2594+8G>A
NM_020822.3(KCNT1):c.2595-11C>T
NM_020822.3(KCNT1):c.2595-17C>G
NM_020822.3(KCNT1):c.2595-4C>T
NM_020822.3(KCNT1):c.2595-7C>T
NM_020822.3(KCNT1):c.2598G>A (p.Leu866=) rs2131549376
NM_020822.3(KCNT1):c.2598G>T (p.Leu866=)
NM_020822.3(KCNT1):c.2601C>T (p.Asp867=) rs1833360129
NM_020822.3(KCNT1):c.2610G>A (p.Leu870=)
NM_020822.3(KCNT1):c.2622C>T (p.Ile874=)
NM_020822.3(KCNT1):c.2628T>C (p.Tyr876=) rs2131549484
NM_020822.3(KCNT1):c.2638C>T (p.Leu880=) rs1588384964
NM_020822.3(KCNT1):c.2643G>C (p.Val881=)
NM_020822.3(KCNT1):c.2646G>A (p.Val882=)
NM_020822.3(KCNT1):c.267G>A (p.Glu89=) rs917179079
NM_020822.3(KCNT1):c.2685C>T (p.Tyr895=)
NM_020822.3(KCNT1):c.2721C>T (p.Thr907=) rs1588385244
NM_020822.3(KCNT1):c.2729+10G>A
NM_020822.3(KCNT1):c.2729+20C>T
NM_020822.3(KCNT1):c.2730-15G>T
NM_020822.3(KCNT1):c.2730-15_2730-9dup
NM_020822.3(KCNT1):c.2730-18G>C
NM_020822.3(KCNT1):c.2730-4C>G
NM_020822.3(KCNT1):c.2730-6C>T rs1300286037
NM_020822.3(KCNT1):c.2733C>G (p.Leu911=)
NM_020822.3(KCNT1):c.2736C>T (p.Phe912=) rs780650756
NM_020822.3(KCNT1):c.2739C>T (p.Pro913=) rs140516977
NM_020822.3(KCNT1):c.2745C>T (p.Leu915=)
NM_020822.3(KCNT1):c.2751C>T (p.Ile917=)
NM_020822.3(KCNT1):c.2754C>T (p.Thr918=)
NM_020822.3(KCNT1):c.2757G>C (p.Thr919=) rs775752475
NM_020822.3(KCNT1):c.2766C>G (p.Thr922=)
NM_020822.3(KCNT1):c.2775C>T (p.Ser925=)
NM_020822.3(KCNT1):c.2778C>T (p.Asn926=) rs1833435836
NM_020822.3(KCNT1):c.2787C>T (p.Phe929=)
NM_020822.3(KCNT1):c.2799C>A (p.Arg933=)
NM_020822.3(KCNT1):c.2802C>T (p.Ala934=)
NM_020822.3(KCNT1):c.2809A>G (p.Ser937Gly) rs1554778379
NM_020822.3(KCNT1):c.2833C>T (p.Leu945=) rs759566793
NM_020822.3(KCNT1):c.2835A>T (p.Leu945=) rs1401533323
NM_020822.3(KCNT1):c.2841+16C>T
NM_020822.3(KCNT1):c.2841+17C>T
NM_020822.3(KCNT1):c.2841+8G>A rs1833445005
NM_020822.3(KCNT1):c.2842-11C>T rs1051472581
NM_020822.3(KCNT1):c.2842-11_2842-9del
NM_020822.3(KCNT1):c.2842-16C>T
NM_020822.3(KCNT1):c.2842-18G>A rs572059153
NM_020822.3(KCNT1):c.2842-18G>T
NM_020822.3(KCNT1):c.2842-25_2842-15del rs2131570559
NM_020822.3(KCNT1):c.2842-36_2842-12del
NM_020822.3(KCNT1):c.2842-6C>T rs2131570804
NM_020822.3(KCNT1):c.2847G>A (p.Glu949=) rs779429071
NM_020822.3(KCNT1):c.2862C>T (p.Ser954=) rs2131570981
NM_020822.3(KCNT1):c.2866C>T (p.Leu956=)
NM_020822.3(KCNT1):c.2884C>T (p.Leu962=)
NM_020822.3(KCNT1):c.2889G>A (p.Pro963=) rs376839128
NM_020822.3(KCNT1):c.288C>G (p.Thr96=)
NM_020822.3(KCNT1):c.288C>T (p.Thr96=) rs764504563
NM_020822.3(KCNT1):c.2910C>T (p.Phe970=)
NM_020822.3(KCNT1):c.2916C>T (p.Ile972=) rs878855056
NM_020822.3(KCNT1):c.2928C>T (p.Asp976=)
NM_020822.3(KCNT1):c.2940C>T (p.Tyr980=) rs1554779778
NM_020822.3(KCNT1):c.2943+10G>C rs1165451009
NM_020822.3(KCNT1):c.2943+15G>A rs369299178
NM_020822.3(KCNT1):c.2943+15G>C
NM_020822.3(KCNT1):c.2943+15G>T
NM_020822.3(KCNT1):c.2943+19G>A
NM_020822.3(KCNT1):c.2944-10_2944-9insTCTCCCTC rs1833876769
NM_020822.3(KCNT1):c.2944-13_2944-6dup
NM_020822.3(KCNT1):c.2944-14_2944-13insTCTC
NM_020822.3(KCNT1):c.2944-15_2944-14insTCCT
NM_020822.3(KCNT1):c.2944-18C>T
NM_020822.3(KCNT1):c.2944-19_2944-13del rs1487601601
NM_020822.3(KCNT1):c.2944-6G>C rs1452612792
NM_020822.3(KCNT1):c.2944-7_2944-6insCCCTGCCTCCCT
NM_020822.3(KCNT1):c.2944-8C>G
NM_020822.3(KCNT1):c.2944-8C>T
NM_020822.3(KCNT1):c.2946C>T (p.Ser982=) rs2131574304
NM_020822.3(KCNT1):c.2958C>T (p.Asp986=)
NM_020822.3(KCNT1):c.2970C>T (p.Thr990=)
NM_020822.3(KCNT1):c.2973C>T (p.Ile991=) rs781212036
NM_020822.3(KCNT1):c.2976C>T (p.Thr992=) rs1331320043
NM_020822.3(KCNT1):c.298C>A (p.Arg100=)
NM_020822.3(KCNT1):c.2992C>T (p.Leu998=)
NM_020822.3(KCNT1):c.3003G>A (p.Thr1001=) rs560435329
NM_020822.3(KCNT1):c.3027+10C>T
NM_020822.3(KCNT1):c.3027+10_3027+23del
NM_020822.3(KCNT1):c.3027+12_3027+13insC
NM_020822.3(KCNT1):c.3027+13G>C
NM_020822.3(KCNT1):c.3027+18_3027+22del rs778352896
NM_020822.3(KCNT1):c.3027+25_3027+29del
NM_020822.3(KCNT1):c.3027+8C>G
NM_020822.3(KCNT1):c.3028-10C>G rs2131575320
NM_020822.3(KCNT1):c.3028-5T>G rs755073132
NM_020822.3(KCNT1):c.3028-8C>T rs2131575328
NM_020822.3(KCNT1):c.3060C>T (p.Arg1020=)
NM_020822.3(KCNT1):c.3072C>G (p.Arg1024=)
NM_020822.3(KCNT1):c.30G>C (p.Pro10=)
NM_020822.3(KCNT1):c.30G>T (p.Pro10=) rs139034501
NM_020822.3(KCNT1):c.3102C>T (p.Ala1034=) rs1176639976
NM_020822.3(KCNT1):c.3108C>T (p.Ile1036=)
NM_020822.3(KCNT1):c.3129A>G (p.Thr1043=)
NM_020822.3(KCNT1):c.3156+14C>A
NM_020822.3(KCNT1):c.3156+15_3156+37del rs777726660
NM_020822.3(KCNT1):c.3156+15_3156+71del rs1564391620
NM_020822.3(KCNT1):c.3156+17G>T
NM_020822.3(KCNT1):c.3156+19G>A rs1364101045
NM_020822.3(KCNT1):c.3156+7G>C
NM_020822.3(KCNT1):c.3156+9G>A
NM_020822.3(KCNT1):c.3157-15C>G
NM_020822.3(KCNT1):c.3157-17G>T
NM_020822.3(KCNT1):c.3157-18C>A rs367695978
NM_020822.3(KCNT1):c.3157-18C>T
NM_020822.3(KCNT1):c.3157-20T>C rs774520067
NM_020822.3(KCNT1):c.3157-20T>G
NM_020822.3(KCNT1):c.3165C>T (p.Asp1055=)
NM_020822.3(KCNT1):c.3174C>T (p.Ala1058=) rs2131577612
NM_020822.3(KCNT1):c.3177+10C>T
NM_020822.3(KCNT1):c.3177+15C>T
NM_020822.3(KCNT1):c.3177+16G>T
NM_020822.3(KCNT1):c.3177+9C>A rs781750496
NM_020822.3(KCNT1):c.3178-14C>T
NM_020822.3(KCNT1):c.3178-18C>T
NM_020822.3(KCNT1):c.3178-19C>T
NM_020822.3(KCNT1):c.3178-6_3178-5insT
NM_020822.3(KCNT1):c.3183G>A (p.Gln1061=)
NM_020822.3(KCNT1):c.3189G>A (p.Ser1063=)
NM_020822.3(KCNT1):c.3189G>C (p.Ser1063=) rs777914546
NM_020822.3(KCNT1):c.3189G>T (p.Ser1063=) rs777914546
NM_020822.3(KCNT1):c.3198G>A (p.Val1066=)
NM_020822.3(KCNT1):c.3217C>T (p.Arg1073Trp) rs768536067
NM_020822.3(KCNT1):c.3218G>A (p.Arg1073Gln)
NM_020822.3(KCNT1):c.3219G>A (p.Arg1073=)
NM_020822.3(KCNT1):c.3225G>A (p.Val1075=)
NM_020822.3(KCNT1):c.3248C>T (p.Ala1083Val)
NM_020822.3(KCNT1):c.3254C>T (p.Thr1085Ile)
NM_020822.3(KCNT1):c.3260G>A (p.Gly1087Asp) rs1834040486
NM_020822.3(KCNT1):c.3294C>T (p.Asp1098=)
NM_020822.3(KCNT1):c.3297C>G (p.Pro1099=) rs759060691
NM_020822.3(KCNT1):c.3316C>A (p.Arg1106=) rs542409033
NM_020822.3(KCNT1):c.3318G>A (p.Arg1106=) rs2131582189
NM_020822.3(KCNT1):c.3326G>A (p.Ser1109Asn) rs1588407944
NM_020822.3(KCNT1):c.3327C>T (p.Ser1109=)
NM_020822.3(KCNT1):c.3328C>T (p.Leu1110=)
NM_020822.3(KCNT1):c.3333G>A (p.Gln1111=) rs960008558
NM_020822.3(KCNT1):c.3339C>A (p.Ala1113=)
NM_020822.3(KCNT1):c.334+10G>C
NM_020822.3(KCNT1):c.334+12G>A
NM_020822.3(KCNT1):c.334+13C>G
NM_020822.3(KCNT1):c.334+14C>G rs2131408140
NM_020822.3(KCNT1):c.334+16G>A
NM_020822.3(KCNT1):c.334+7G>A rs1057522631
NM_020822.3(KCNT1):c.334+8_334+12del
NM_020822.3(KCNT1):c.335-10C>T
NM_020822.3(KCNT1):c.335-14T>C
NM_020822.3(KCNT1):c.335-14T>G
NM_020822.3(KCNT1):c.335-17C>A rs764048972
NM_020822.3(KCNT1):c.335-17C>T
NM_020822.3(KCNT1):c.3354C>T (p.Arg1118=)
NM_020822.3(KCNT1):c.3369G>A (p.Gln1123=) rs2131582485
NM_020822.3(KCNT1):c.3387C>G (p.Ala1129=) rs372410150
NM_020822.3(KCNT1):c.3389C>T (p.Ala1130Val)
NM_020822.3(KCNT1):c.3417C>T (p.Ser1139=)
NM_020822.3(KCNT1):c.3418C>T (p.Leu1140=)
NM_020822.3(KCNT1):c.3426G>A (p.Arg1142=)
NM_020822.3(KCNT1):c.3428G>A (p.Arg1143His) rs1182743416
NM_020822.3(KCNT1):c.3438C>T (p.Arg1146=)
NM_020822.3(KCNT1):c.3459G>A (p.Val1153=)
NM_020822.3(KCNT1):c.3461A>G (p.Lys1154Arg) rs779810960
NM_020822.3(KCNT1):c.3464A>C (p.Asn1155Thr) rs1283268556
NM_020822.3(KCNT1):c.3478C>T (p.Leu1160=)
NM_020822.3(KCNT1):c.3502+12C>A
NM_020822.3(KCNT1):c.3502+12C>G rs367727105
NM_020822.3(KCNT1):c.3502+14G>A
NM_020822.3(KCNT1):c.3502+15C>T
NM_020822.3(KCNT1):c.3502+8C>A
NM_020822.3(KCNT1):c.3502+9A>G rs2131583276
NM_020822.3(KCNT1):c.3503-10T>C
NM_020822.3(KCNT1):c.3503-19C>T
NM_020822.3(KCNT1):c.3503-20C>A
NM_020822.3(KCNT1):c.3503-7T>A rs559088025
NM_020822.3(KCNT1):c.3503-8C>T
NM_020822.3(KCNT1):c.3513C>T (p.Asn1171=) rs1206106180
NM_020822.3(KCNT1):c.3534C>A (p.Ser1178=) rs1588422518
NM_020822.3(KCNT1):c.3540C>T (p.Val1180=) rs185469582
NM_020822.3(KCNT1):c.3544A>C (p.Ile1182Leu) rs1161862851
NM_020822.3(KCNT1):c.3549C>T (p.Asn1183=)
NM_020822.3(KCNT1):c.3555G>A (p.Pro1185=) rs144068763
NM_020822.3(KCNT1):c.3558C>A (p.Pro1186=) rs148525032
NM_020822.3(KCNT1):c.3558C>T (p.Pro1186=) rs148525032
NM_020822.3(KCNT1):c.3564G>C (p.Thr1188=) rs530040739
NM_020822.3(KCNT1):c.3564G>T (p.Thr1188=)
NM_020822.3(KCNT1):c.3567G>A (p.Arg1189=) rs2131604834
NM_020822.3(KCNT1):c.3570G>A (p.Leu1190=) rs1247173859
NM_020822.3(KCNT1):c.3587+12C>T
NM_020822.3(KCNT1):c.3587+13T>C
NM_020822.3(KCNT1):c.3587+13_3587+44del rs1426064441
NM_020822.3(KCNT1):c.3588-10C>T
NM_020822.3(KCNT1):c.3588-13_3588-12del rs2131605777
NM_020822.3(KCNT1):c.3588-14G>A
NM_020822.3(KCNT1):c.3588-9C>T rs2131605802
NM_020822.3(KCNT1):c.3600C>G (p.Arg1200=)
NM_020822.3(KCNT1):c.3600C>T (p.Arg1200=) rs144658404
NM_020822.3(KCNT1):c.3603C>A (p.Ser1201=) rs769180686
NM_020822.3(KCNT1):c.3603C>T (p.Ser1201=) rs769180686
NM_020822.3(KCNT1):c.3622G>A (p.Ala1208Thr) rs1564402008
NM_020822.3(KCNT1):c.3624C>T (p.Ala1208=) rs1372740051
NM_020822.3(KCNT1):c.3648C>T (p.Ser1216=) rs1834583279
NM_020822.3(KCNT1):c.364C>T (p.Leu122=) rs2131411142
NM_020822.3(KCNT1):c.3653G>A (p.Cys1218Tyr) rs758465935
NM_020822.3(KCNT1):c.3669G>A (p.Ser1223=) rs556454353
NM_020822.3(KCNT1):c.3699A>C (p.Thr1233=) rs750109650
NM_020822.3(KCNT1):c.3699A>G (p.Thr1233=)
NM_020822.3(KCNT1):c.36C>G (p.Gly12=) rs1442852201
NM_020822.3(KCNT1):c.372G>A (p.Leu124=) rs1398608504
NM_020822.3(KCNT1):c.399C>A (p.Arg133=) rs377259793
NM_020822.3(KCNT1):c.399C>T (p.Arg133=) rs377259793
NM_020822.3(KCNT1):c.402C>G (p.Val134=)
NM_020822.3(KCNT1):c.417G>A (p.Pro139=) rs542441332
NM_020822.3(KCNT1):c.417G>C (p.Pro139=)
NM_020822.3(KCNT1):c.429C>A (p.Ile143=) rs767429133
NM_020822.3(KCNT1):c.434+10G>C rs187872786
NM_020822.3(KCNT1):c.434+14G>A
NM_020822.3(KCNT1):c.434+16G>A rs560535799
NM_020822.3(KCNT1):c.434+16G>T
NM_020822.3(KCNT1):c.434+9C>T
NM_020822.3(KCNT1):c.435-10C>T rs2131422803
NM_020822.3(KCNT1):c.435-17G>C
NM_020822.3(KCNT1):c.435-18C>T rs1057523539
NM_020822.3(KCNT1):c.450G>A (p.Lys150=)
NM_020822.3(KCNT1):c.474G>C (p.Ser158=)
NM_020822.3(KCNT1):c.491+18C>G rs748233532
NM_020822.3(KCNT1):c.491+18C>T
NM_020822.3(KCNT1):c.491+7C>T rs538968704
NM_020822.3(KCNT1):c.492-10C>G
NM_020822.3(KCNT1):c.492-14C>G
NM_020822.3(KCNT1):c.492-15C>T
NM_020822.3(KCNT1):c.492-19G>A
NM_020822.3(KCNT1):c.497C>T (p.Pro166Leu)
NM_020822.3(KCNT1):c.498T>C (p.Pro166=) rs1402179280
NM_020822.3(KCNT1):c.504G>A (p.Leu168=) rs1588317741
NM_020822.3(KCNT1):c.504G>C (p.Leu168=)
NM_020822.3(KCNT1):c.513G>A (p.Glu171=)
NM_020822.3(KCNT1):c.51G>A (p.Ala17=)
NM_020822.3(KCNT1):c.526C>T (p.Leu176=) rs1395075330
NM_020822.3(KCNT1):c.528G>A (p.Leu176=) rs2131427169
NM_020822.3(KCNT1):c.534G>A (p.Ala178=) rs144250793
NM_020822.3(KCNT1):c.53G>A (p.Arg18His) rs753714293
NM_020822.3(KCNT1):c.540+14C>T
NM_020822.3(KCNT1):c.540+7G>A
NM_020822.3(KCNT1):c.541-14T>C
NM_020822.3(KCNT1):c.541-16C>A
NM_020822.3(KCNT1):c.541-16C>T
NM_020822.3(KCNT1):c.541-17C>T
NM_020822.3(KCNT1):c.541-20T>C
NM_020822.3(KCNT1):c.541-7C>A rs1489319809
NM_020822.3(KCNT1):c.54C>A (p.Arg18=)
NM_020822.3(KCNT1):c.54C>G (p.Arg18=) rs754697766
NM_020822.3(KCNT1):c.54C>T (p.Arg18=) rs754697766
NM_020822.3(KCNT1):c.573G>A (p.Thr191=) rs375310989
NM_020822.3(KCNT1):c.573G>C (p.Thr191=) rs375310989
NM_020822.3(KCNT1):c.57C>G (p.Gly19=)
NM_020822.3(KCNT1):c.57C>T (p.Gly19=) rs1245480933
NM_020822.3(KCNT1):c.582C>T (p.Leu194=)
NM_020822.3(KCNT1):c.588C>T (p.Tyr196=) rs2131434951
NM_020822.3(KCNT1):c.600+11G>T
NM_020822.3(KCNT1):c.600+12C>T
NM_020822.3(KCNT1):c.600+14C>T
NM_020822.3(KCNT1):c.600+15G>A
NM_020822.3(KCNT1):c.600+16G>A rs764442404
NM_020822.3(KCNT1):c.600+17G>A rs1182136206
NM_020822.3(KCNT1):c.600+8C>T rs1588321982
NM_020822.3(KCNT1):c.601-13C>T rs202113794
NM_020822.3(KCNT1):c.601-14C>T
NM_020822.3(KCNT1):c.601-15C>T
NM_020822.3(KCNT1):c.601-17C>T
NM_020822.3(KCNT1):c.601-18C>A
NM_020822.3(KCNT1):c.601-18C>T rs762196150
NM_020822.3(KCNT1):c.615G>A (p.Glu205=)
NM_020822.3(KCNT1):c.621C>A (p.Ile207=) rs1185207674
NM_020822.3(KCNT1):c.627C>T (p.Arg209=) rs1417508265
NM_020822.3(KCNT1):c.630G>A (p.Val210=)
NM_020822.3(KCNT1):c.654C>T (p.Asn218=)
NM_020822.3(KCNT1):c.672C>T (p.Ile224=)
NM_020822.3(KCNT1):c.675+11C>A
NM_020822.3(KCNT1):c.675+12C>G rs1322006932
NM_020822.3(KCNT1):c.675+15G>T rs1171483239
NM_020822.3(KCNT1):c.675+9G>A
NM_020822.3(KCNT1):c.676-11C>A
NM_020822.3(KCNT1):c.676-14T>C
NM_020822.3(KCNT1):c.676-15C>T
NM_020822.3(KCNT1):c.676-18G>A
NM_020822.3(KCNT1):c.700C>T (p.Leu234=) rs1831563332
NM_020822.3(KCNT1):c.702G>A (p.Leu234=) rs2131438438
NM_020822.3(KCNT1):c.711C>T (p.Pro237=) rs117286274
NM_020822.3(KCNT1):c.720G>C (p.Leu240=) rs2131438525
NM_020822.3(KCNT1):c.73C>A (p.Arg25=)
NM_020822.3(KCNT1):c.744G>T (p.Ala248=)
NM_020822.3(KCNT1):c.747G>A (p.Leu249=)
NM_020822.3(KCNT1):c.759+10G>A rs1378294661
NM_020822.3(KCNT1):c.759+11G>T
NM_020822.3(KCNT1):c.759+12C>T
NM_020822.3(KCNT1):c.759+13G>C rs375237065
NM_020822.3(KCNT1):c.759+13G>T
NM_020822.3(KCNT1):c.759+14G>C rs2131438888
NM_020822.3(KCNT1):c.759+16G>A rs1362410976
NM_020822.3(KCNT1):c.759+18G>A rs748532863
NM_020822.3(KCNT1):c.759+18G>T
NM_020822.3(KCNT1):c.760-13A>T
NM_020822.3(KCNT1):c.760-18C>T
NM_020822.3(KCNT1):c.760-20A>T
NM_020822.3(KCNT1):c.760-4A>C rs2131444316
NM_020822.3(KCNT1):c.760-4A>G rs2131444316
NM_020822.3(KCNT1):c.760-9C>T rs1554771446
NM_020822.3(KCNT1):c.768C>T (p.Phe256=) rs1422265516
NM_020822.3(KCNT1):c.780C>T (p.Ile260=)
NM_020822.3(KCNT1):c.781C>T (p.Leu261=) rs1588327182
NM_020822.3(KCNT1):c.784C>A (p.Arg262=)
NM_020822.3(KCNT1):c.816C>T (p.Leu272=) rs764531029
NM_020822.3(KCNT1):c.825C>T (p.Phe275=)
NM_020822.3(KCNT1):c.852G>T (p.Thr284=)
NM_020822.3(KCNT1):c.854+13C>T
NM_020822.3(KCNT1):c.855-4G>T
NM_020822.3(KCNT1):c.855-7G>A rs768046676
NM_020822.3(KCNT1):c.864C>T (p.Gly288=)
NM_020822.3(KCNT1):c.880C>A (p.Arg294=)
NM_020822.3(KCNT1):c.894C>T (p.Asn298=)
NM_020822.3(KCNT1):c.895C>T (p.Leu299=) rs2131450994
NM_020822.3(KCNT1):c.897G>A (p.Leu299=) rs1197592007
NM_020822.3(KCNT1):c.91G>T (p.Asp31Tyr) rs766377529
NM_020822.3(KCNT1):c.921C>T (p.Phe307=) rs878855057
NM_020822.3(KCNT1):c.927C>T (p.Ile309=)
NM_020822.3(KCNT1):c.94G>T (p.Gly32Cys) rs754823810
NM_020822.3(KCNT1):c.963G>C (p.Thr321=) rs760300415
NM_020822.3(KCNT1):c.9C>T (p.Leu3=) rs768423949

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