ClinVar Miner

List of variants studied for neonatal-onset developmental and epileptic encephalopathy

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8745
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.1987-98C>T rs4926263 0.99259
NM_020708.5(SLC12A5):c.2100G>A (p.Ala700=) rs6032635 0.98449
NM_001127222.2(CACNA1A):c.6526+137A>G rs10413221 0.98446
NM_015192.4(PLCB1):c.1889-43G>A rs993670 0.98398
NM_001127222.2(CACNA1A):c.4950+96A>C rs16039 0.97758
NM_015192.4(PLCB1):c.3279-35A>G rs2327090 0.97325
NM_015192.4(PLCB1):c.3188+8C>T rs2327089 0.89617
NM_001330260.2(SCN8A):c.4796-38C>A rs303828 0.86075
NM_001605.3(AARS1):c.2715T>C (p.Val905=) rs4081753 0.85676
NM_000836.4(GRIN2D):c.2697T>C (p.Ala899=) rs62130268 0.81706
NM_001127222.2(CACNA1A):c.1199-31A>G rs16008 0.81362
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_003705.5(SLC25A12):c.99T>C (p.Tyr33=) rs1878583 0.81051
NM_000836.4(GRIN2D):c.3142T>C (p.Leu1048=) rs111420822 0.80040
NM_001330260.2(SCN8A):c.1135-48C>T rs2291265 0.78368
NM_001127222.2(CACNA1A):c.5941-205T>C rs2419233 0.76943
NM_001330260.2(SCN8A):c.3490+20G>A rs303808 0.76481
NM_003705.5(SLC25A12):c.210-21A>G rs2056202 0.76440
NM_016373.4(WWOX):c.516+6T>C rs2303191 0.75307
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001127222.2(CACNA1A):c.2173-12C>T rs16018 0.66161
NM_001127222.2(CACNA1A):c.1198+48G>A rs2306348 0.64420
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_015192.4(PLCB1):c.2988T>C (p.Ala996=) rs2235613 0.62539
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.62374
NM_001127222.2(CACNA1A):c.4867-71A>C rs16035 0.59301
NM_001958.5(EEF1A2):c.594T>C (p.Gly198=) rs310617 0.57688
NM_015192.4(PLCB1):c.1167+16G>A rs2295179 0.57134
NM_004171.4(SLC1A2):c.731-8T>C rs2273689 0.55092
NM_001127222.2(CACNA1A):c.5731+49C>T rs3816027 0.54210
NM_001127222.2(CACNA1A):c.4089+71T>C rs16031 0.53636
NM_016373.4(WWOX):c.1057-40T>C rs384216 0.49671
NM_001127222.2(CACNA1A):c.293+53G>A rs16003 0.45781
NM_001127222.2(CACNA1A):c.2280-68C>A rs12985136 0.45430
NM_004408.4(DNM1):c.1008C>T (p.Phe336=) rs3003609 0.41986
NM_024818.6(UBA5):c.1024+32T>C rs2305629 0.41651
NM_004113.6(FGF12):c.125-21C>T rs4571187 0.40463
NM_015192.4(PLCB1):c.1679-29C>T rs1015170 0.38615
NM_016373.4(WWOX):c.108-12G>T rs67493355 0.34450
NM_016373.4(WWOX):c.-5C>T rs11545028 0.27934
NM_004171.4(SLC1A2):c.1221A>G (p.Val407=) rs1042113 0.26392
NM_015192.4(PLCB1):c.3337C>T (p.Leu1113=) rs2294597 0.24864
NM_015192.4(PLCB1):c.3423+24A>C rs2294598 0.24849
NM_015192.4(PLCB1):c.2565G>A (p.Ala855=) rs2076413 0.24634
NM_001127222.2(CACNA1A):c.4756-97G>A rs8103699 0.24285
NM_016373.4(WWOX):c.606-17G>A rs4130513 0.24208
NM_004171.4(SLC1A2):c.603G>A (p.Pro201=) rs752949 0.22188
NM_004171.4(SLC1A2):c.562-36T>C rs3895234 0.22153
NM_001958.5(EEF1A2):c.772+31C>A rs12480745 0.21133
NM_004171.4(SLC1A2):c.311-37A>G rs10836370 0.20991
NM_004171.4(SLC1A2):c.157+31C>G rs2273687 0.19605
NM_015192.4(PLCB1):c.102C>T (p.Asp34=) rs16994453 0.18027
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030 0.17482
NM_020708.5(SLC12A5):c.2280C>T (p.Ser760=) rs3746522 0.16926
NM_001127222.2(CACNA1A):c.5401-14C>T rs16042 0.16269
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025 0.14118
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023 0.13336
NM_020708.5(SLC12A5):c.280-45C>T rs3746515 0.11932
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016 0.11927
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022 0.11855
NM_004408.4(DNM1):c.312G>A (p.Glu104=) rs2229917 0.11354
NM_001958.5(EEF1A2):c.480G>A (p.Pro160=) rs2274860 0.10978
NM_020708.5(SLC12A5):c.2361G>A (p.Thr787=) rs17344810 0.09686
NM_015192.4(PLCB1):c.1251-4T>G rs2076689 0.09450
NM_177550.5(SLC13A5):c.1092C>T (p.Ala364=) rs55698160 0.09334
NM_004408.4(DNM1):c.1062C>T (p.Tyr354=) rs35048348 0.08186
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=) rs16006 0.08064
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_016373.4(WWOX):c.844C>G (p.Pro282Ala) rs3764340 0.07330
NM_015192.4(PLCB1):c.1009+26C>G rs2273189 0.07044
NM_020708.5(SLC12A5):c.357G>T (p.Arg119=) rs77659338 0.06862
NM_177550.5(SLC13A5):c.1005C>T (p.Pro335=) rs56224509 0.06724
NM_015192.4(PLCB1):c.2082G>A (p.Gly694=) rs3761170 0.05661
NM_020708.5(SLC12A5):c.1512G>A (p.Thr504=) rs41282782 0.05088
NM_001958.5(EEF1A2):c.1029+12C>T rs45510898 0.04910
NM_020708.5(SLC12A5):c.1150C>G (p.Pro384Ala) rs16985442 0.04777
NM_020708.5(SLC12A5):c.482-19T>C rs77623489 0.04769
NM_004113.6(FGF12):c.229-7C>T rs79608878 0.04458
NM_015192.4(PLCB1):c.99+8T>C rs6086350 0.04369
NM_001958.5(EEF1A2):c.1326G>A (p.Glu442=) rs1042796 0.04304
NM_015192.4(PLCB1):c.-170C>A rs139962835 0.04003
NM_001127222.2(CACNA1A):c.1782-20C>T rs73513425 0.03727
NM_016373.4(WWOX):c.646C>G (p.Leu216Val) rs7201683 0.03724
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=) rs16011 0.03687
NM_001958.5(EEF1A2):c.207C>T (p.Arg69=) rs3818681 0.03482
NM_015192.4(PLCB1):c.3202T>C (p.Leu1068=) rs41275588 0.03299
NM_016373.4(WWOX):c.941G>A (p.Arg314His) rs73572838 0.03269
NM_020708.5(SLC12A5):c.2012+3T>A rs12481488 0.03011
NM_020708.5(SLC12A5):c.355C>A (p.Arg119=) rs3848724 0.02859
NM_020708.5(SLC12A5):c.534T>C (p.Gly178=) rs3746519 0.02856
NM_020708.5(SLC12A5):c.1155C>T (p.Ile385=) rs35804246 0.02850
NM_004975.4(KCNB1):c.198C>T (p.His66=) rs520282 0.02665
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_004975.4(KCNB1):c.2473C>T (p.Pro825Ser) rs34467662 0.02504
NM_016373.4(WWOX):c.547G>A (p.Asp183Asn) rs74944733 0.02435
NM_177550.5(SLC13A5):c.369-14C>T rs218677 0.02396
NM_001127222.2(CACNA1A):c.1781+18C>A rs16013 0.02392
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02366
NM_015192.4(PLCB1):c.1581+15C>T rs79284104 0.02283
NM_177550.5(SLC13A5):c.716+11G>C rs7215596 0.02122
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050 0.02098
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_001127222.2(CACNA1A):c.3989+16A>G rs149764550 0.01798
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=) rs16029 0.01749
NM_015192.4(PLCB1):c.*749G>C rs16995375 0.01704
NM_015192.4(PLCB1):c.*1551A>G rs77690948 0.01631
NM_020708.5(SLC12A5):c.2100= (p.Ala700=) rs6032635 0.01551
NM_004975.4(KCNB1):c.1847C>G (p.Thr616Ser) rs2229006 0.01543
NM_016373.4(WWOX):c.108-12del rs149533117 0.01497
NM_015192.4(PLCB1):c.924A>G (p.Ser308=) rs6056003 0.01487
NM_016373.4(WWOX):c.293C>T (p.Pro98Leu) rs144601717 0.01477
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=) rs35242963 0.01438
NM_015192.4(PLCB1):c.2199G>A (p.Val733=) rs8118206 0.01438
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=) rs16044 0.01420
NM_016373.4(WWOX):c.1238C>A (p.Ser413Tyr) rs117065412 0.01316
NM_004975.4(KCNB1):c.1837C>T (p.Pro613Ser) rs112735799 0.01273
NM_016373.4(WWOX):c.351C>G (p.Leu117=) rs34944716 0.01231
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012 0.01217
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_015192.4(PLCB1):c.178-15G>A rs6055775 0.01196
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01112
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_020708.5(SLC12A5):c.2292G>T (p.Gly764=) rs79522550 0.01094
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186 0.01081
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01053
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_004974.4(KCNA2):c.1392T>G (p.Gly464=) rs115456625 0.00993
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met) rs35744709 0.00971
NM_004408.4(DNM1):c.1905+17C>T rs115623280 0.00965
NM_004408.4(DNM1):c.1894-18G>T rs116335289 0.00963
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_015192.4(PLCB1):c.2413+9C>T rs138442805 0.00934
NM_004975.4(KCNB1):c.2570G>A (p.Ser857Asn) rs34280195 0.00926
NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=) rs61520357 0.00918
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_001958.5(EEF1A2):c.1265-15C>T rs200634874 0.00820
NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=) rs7249722 0.00766
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693 0.00730
NM_015192.4(PLCB1):c.*855G>A rs115731722 0.00722
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299 0.00721
NM_015192.4(PLCB1):c.*1538G>T rs116163517 0.00719
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=) rs1800039 0.00699
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463 0.00674
NM_015192.4(PLCB1):c.-330C>T rs532302075 0.00673
NM_001127222.2(CACNA1A):c.2826C>T (p.Ser942=) rs181024112 0.00646
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=) rs117598688 0.00646
NM_016373.4(WWOX):c.107+252C>T rs58108921 0.00633
NM_020708.5(SLC12A5):c.482-5T>C rs147042920 0.00631
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026 0.00616
NM_015192.4(PLCB1):c.2309-15A>C rs117816042 0.00563
NM_020708.5(SLC12A5):c.1189A>T (p.Thr397Ser) rs34058554 0.00540
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439 0.00531
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) rs35012521 0.00520
NM_004408.4(DNM1):c.46C>A (p.Leu16Met) rs61757224 0.00511
NM_015192.4(PLCB1):c.1167+7T>C rs45466294 0.00492
NM_015509.4(NECAP1):c.670G>A (p.Asp224Asn) rs2231752 0.00491
NM_004975.4(KCNB1):c.1182G>A (p.Gly394=) rs77238446 0.00481
NM_004408.4(DNM1):c.357T>C (p.Pro119=) rs77325628 0.00468
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_001958.5(EEF1A2):c.1263C>T (p.Leu421=) rs115107511 0.00453
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072 0.00444
NM_020708.5(SLC12A5):c.2403C>T (p.Gly801=) rs35981087 0.00442
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809 0.00406
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001127222.2(CACNA1A):c.5067+20G>A rs184517632 0.00390
NM_015192.4(PLCB1):c.1679-17G>A rs139542242 0.00372
NM_021072.4(HCN1):c.140G>T (p.Gly47Val) rs544994462 0.00362
NM_015192.4(PLCB1):c.582T>C (p.Leu194=) rs150770296 0.00354
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985 0.00353
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=) rs16017 0.00329
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser) rs114755364 0.00326
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=) rs190603219 0.00314
NM_001958.5(EEF1A2):c.1030-8G>A rs112283537 0.00314
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_001958.5(EEF1A2):c.1296G>A (p.Thr432=) rs200259257 0.00299
NM_020708.5(SLC12A5):c.1569+13G>A rs75931039 0.00297
NM_004975.4(KCNB1):c.2334C>T (p.Leu778=) rs142111310 0.00290
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642 0.00290
NM_015192.4(PLCB1):c.*158T>A rs41275592 0.00287
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys) rs146478958 0.00280
NM_024818.4(UBA5):c.-823C>A rs151048899 0.00280
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=) rs202102758 0.00277
NM_016373.4(WWOX):c.*3G>T rs140060332 0.00275
NM_015192.4(PLCB1):c.1336-18G>A rs140846963 0.00274
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760 0.00262
NM_015192.4(PLCB1):c.2673T>G (p.Pro891=) rs142813933 0.00260
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839 0.00251
NM_177550.5(SLC13A5):c.426G>A (p.Thr142=) rs72836208 0.00250
NM_004408.4(DNM1):c.1197-7C>T rs41306488 0.00247
NM_004975.4(KCNB1):c.1389T>A (p.Ile463=) rs115929614 0.00239
NM_004975.4(KCNB1):c.2106G>A (p.Ala702=) rs149678923 0.00238
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280 0.00232
NM_004408.4(DNM1):c.1906-17T>C rs191460911 0.00225
NM_001958.5(EEF1A2):c.237G>A (p.Lys79=) rs61737389 0.00219
NM_015192.4(PLCB1):c.2930+20T>G rs45533233 0.00214
NM_001127222.2(CACNA1A):c.1345+7C>T rs192536793 0.00213
NM_015192.4(PLCB1):c.3120A>G (p.Gln1040=) rs61755436 0.00213
NM_020708.5(SLC12A5):c.96C>T (p.Thr32=) rs143969641 0.00212
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_016373.4(WWOX):c.1197G>A (p.Ala399=) rs376935572 0.00203
NM_001958.5(EEF1A2):c.1335C>T (p.Ser445=) rs372257864 0.00202
NM_015192.4(PLCB1):c.*991A>C rs139726114 0.00202
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=) rs149013279 0.00196
NM_021072.4(HCN1):c.2172C>T (p.Ala724=) rs56217199 0.00191
NM_004408.4(DNM1):c.386-14G>A rs141695422 0.00189
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00188
NM_004408.4(DNM1):c.1764C>T (p.Leu588=) rs111534551 0.00186
NM_020708.5(SLC12A5):c.2805T>C (p.Asp935=) rs151293924 0.00186
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=) rs143867796 0.00183
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly) rs3739206 0.00181
NM_015192.4(PLCB1):c.2711-18C>T rs186797959 0.00181
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225 0.00160
NM_007254.4(PNKP):c.636+7G>A rs3739187 0.00154
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu) rs201612257 0.00145
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231 0.00138
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser) rs141840552 0.00137
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) rs141433824 0.00137
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442 0.00133
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463 0.00132
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_015192.4(PLCB1):c.1678+10C>T rs369652433 0.00131
NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu) rs573961089 0.00130
NM_000836.4(GRIN2D):c.3879C>T (p.His1293=) rs370934587 0.00128
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228 0.00128
NM_015192.4(PLCB1):c.1336-13T>C rs185405599 0.00126
NM_004974.4(KCNA2):c.1299A>T (p.Thr433=) rs80034565 0.00121
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839 0.00112
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=) rs145869401 0.00110
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552 0.00108
NM_015192.4(PLCB1):c.-168G>A rs548635433 0.00108
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103
NM_016373.4(WWOX):c.669T>C (p.Asp223=) rs72549408 0.00103
NM_016373.4(WWOX):c.888C>G (p.Ser296=) rs3764341 0.00102
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His) rs142740233 0.00102
NM_015192.4(PLCB1):c.1888+11G>A rs150219357 0.00100
NM_004975.4(KCNB1):c.1296G>A (p.Arg432=) rs142605642 0.00097
NM_004408.4(DNM1):c.450C>G (p.Pro150=) rs143834670 0.00093
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_177550.5(SLC13A5):c.231+6C>A rs138834680 0.00091
NM_004408.4(DNM1):c.1782-9A>G rs201739236 0.00090
NM_004408.4(DNM1):c.747C>T (p.Thr249=) rs141651183 0.00086
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412 0.00083
NM_001127222.2(CACNA1A):c.5840-14G>A rs184658006 0.00082
NM_004975.4(KCNB1):c.1734G>C (p.Gly578=) rs145456546 0.00081
NM_001127222.2(CACNA1A):c.5400+15A>C rs373246283 0.00078
NM_016373.4(WWOX):c.107+18G>A rs146301453 0.00078
NM_004408.4(DNM1):c.2540C>T (p.Ser847Leu) rs199498658 0.00076
NM_004974.4(KCNA2):c.213C>T (p.Pro71=) rs116111724 0.00076
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr) rs199745070 0.00074
NM_004974.4(KCNA2):c.807C>T (p.Thr269=) rs146036196 0.00073
NM_015192.4(PLCB1):c.246+12A>G rs200984500 0.00073
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566 0.00071
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_020708.5(SLC12A5):c.2680-3C>T rs141933171 0.00070
NM_001127222.2(CACNA1A):c.1083-4C>G rs201056216 0.00069
NM_001605.3(AARS1):c.1044G>C (p.Thr348=) rs181264712 0.00067
NM_007254.4(PNKP):c.1299-6C>T rs112635688 0.00067
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=) rs35245209 0.00067
NM_016373.4(WWOX):c.807C>T (p.Asn269=) rs62034095 0.00067
NM_004408.4(DNM1):c.332C>G (p.Thr111Ser) rs192913494 0.00066
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=) rs45492700 0.00065
NM_001127222.2(CACNA1A):c.6561C>T (p.Ser2187=) rs371116746 0.00064
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser) rs140817689 0.00063
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_015192.4(PLCB1):c.*2847T>A rs551121948 0.00061
NM_177550.5(SLC13A5):c.232-11C>T rs112805825 0.00061
NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=) rs199854716 0.00060
NM_007254.4(PNKP):c.816+20C>T rs372038893 0.00059
NM_015192.4(PLCB1):c.*3046A>C rs557097380 0.00059
NM_001127222.2(CACNA1A):c.6527-19T>C rs375949210 0.00058
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004 0.00057
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367 0.00057
NM_004975.4(KCNB1):c.2136G>A (p.Thr712=) rs139458439 0.00057
NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro) rs772789381 0.00055
NM_020708.5(SLC12A5):c.1431C>T (p.Gly477=) rs538711126 0.00054
NM_007254.4(PNKP):c.1557C>T (p.Ser519=) rs142180374 0.00051
NM_015192.4(PLCB1):c.*1644T>C rs193061195 0.00051
NM_001958.5(EEF1A2):c.279C>T (p.Pro93=) rs142072676 0.00049
NM_003705.5(SLC25A12):c.1654G>A (p.Ala552Thr) rs142912356 0.00049
NM_015192.4(PLCB1):c.3039G>A (p.Gln1013=) rs139859188 0.00049
NM_020708.5(SLC12A5):c.3126-3dup rs767708918 0.00049
NM_177550.5(SLC13A5):c.716+15G>A rs377090828 0.00049
NM_001127222.2(CACNA1A):c.3693-20C>T rs200082880 0.00048
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975 0.00047
NM_001958.5(EEF1A2):c.375G>A (p.Ala125=) rs2274861 0.00046
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_001127222.2(CACNA1A):c.2823G>A (p.Glu941=) rs374511141 0.00045
NM_004975.4(KCNB1):c.2363C>A (p.Thr788Lys) rs140932985 0.00045
NM_020708.5(SLC12A5):c.276G>C (p.Val92=) rs141848967 0.00045
NM_020708.5(SLC12A5):c.1695C>T (p.Phe565=) rs41282784 0.00044
NM_020708.5(SLC12A5):c.2377+10T>C rs369281155 0.00044
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His) rs114371269 0.00044
NM_001127222.2(CACNA1A):c.5649C>G (p.Pro1883=) rs61741139 0.00042
NM_001127222.2(CACNA1A):c.5732-6T>C rs16043 0.00041
NM_001127222.2(CACNA1A):c.978+9T>C rs111366222 0.00041
NM_001958.5(EEF1A2):c.357C>T (p.Gly119=) rs143241534 0.00041
NM_001958.5(EEF1A2):c.772+13G>A rs376455856 0.00041
NM_177550.5(SLC13A5):c.690C>T (p.Asn230=) rs146385318 0.00041
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120 0.00040
NM_177550.5(SLC13A5):c.1576-13G>A rs377340234 0.00040
NM_177550.5(SLC13A5):c.369-17C>T rs372696631 0.00040
NM_177550.5(SLC13A5):c.582G>A (p.Gly194=) rs147260918 0.00040
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234 0.00039
NM_004408.4(DNM1):c.1707C>T (p.Asn569=) rs145318071 0.00039
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr) rs79399971 0.00038
NM_007254.4(PNKP):c.893C>T (p.Ala298Val) rs145615734 0.00037
NM_015192.4(PLCB1):c.*2565G>A rs566701784 0.00037
NM_020708.5(SLC12A5):c.808A>G (p.Ile270Val) rs753714930 0.00037
NM_001127222.2(CACNA1A):c.2844C>G (p.Arg948=) rs559862641 0.00036
NM_001127222.2(CACNA1A):c.5757C>T (p.Asp1919=) rs368042511 0.00036
NM_004408.4(DNM1):c.1437C>T (p.Ile479=) rs141788807 0.00036
NM_004975.4(KCNB1):c.177G>A (p.Lys59=) rs117017889 0.00036
NM_020708.5(SLC12A5):c.286C>T (p.Arg96Cys) rs145700012 0.00035
NM_177550.5(SLC13A5):c.1230C>T (p.Ile410=) rs149447388 0.00035
NM_001127222.2(CACNA1A):c.1199-17G>C rs190836274 0.00034
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430 0.00034
NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile) rs140932636 0.00034
NM_015192.4(PLCB1):c.*1724G>A rs546143014 0.00034
NM_015192.4(PLCB1):c.1526C>T (p.Thr509Met) rs150686631 0.00034
NM_020708.5(SLC12A5):c.2378-18C>A rs199747973 0.00034
NM_007254.4(PNKP):c.308C>T (p.Thr103Ile) rs115419706 0.00033
NM_007254.4(PNKP):c.587A>G (p.Tyr196Cys) rs138931842 0.00033
NM_007254.4(PNKP):c.876A>G (p.Gly292=) rs3739199 0.00033
NM_015192.4(PLCB1):c.*2789G>A rs188626146 0.00033
NM_004974.4(KCNA2):c.903C>T (p.Val301=) rs752322953 0.00032
NM_015192.4(PLCB1):c.3643C>T (p.Pro1215Ser) rs138077430 0.00032
NM_020708.5(SLC12A5):c.2376T>C (p.Ile792=) rs201525976 0.00032
NM_177550.5(SLC13A5):c.801C>T (p.Phe267=) rs200645836 0.00032
NM_001127222.2(CACNA1A):c.4926C>T (p.Thr1642=) rs16036 0.00031
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=) rs16010 0.00030
NM_007254.4(PNKP):c.1386+41_1386+42del rs765720389 0.00030
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336 0.00030
NM_020708.5(SLC12A5):c.1941T>G (p.Gly647=) rs148489203 0.00030
NM_001127222.2(CACNA1A):c.3117G>T (p.Val1039=) rs745981005 0.00029
NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=) rs372240227 0.00029
NM_001127222.2(CACNA1A):c.5133+10G>A rs369033909 0.00029
NM_015509.4(NECAP1):c.69G>A (p.Pro23=) rs149738880 0.00029
NM_020708.5(SLC12A5):c.1989G>C (p.Gly663=) rs373648545 0.00029
NM_020708.5(SLC12A5):c.2548-8G>A rs180864043 0.00029
NM_177550.5(SLC13A5):c.1095C>G (p.Thr365=) rs139660928 0.00029
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_007254.4(PNKP):c.498+11C>T rs371375970 0.00027
NM_015192.4(PLCB1):c.*1871G>A rs200559753 0.00027
NM_015509.4(NECAP1):c.251C>T (p.Thr84Met) rs137964265 0.00027
NM_001127222.2(CACNA1A):c.1905C>T (p.Phe635=) rs115452236 0.00026
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) rs372812865 0.00026
NM_004408.4(DNM1):c.414C>T (p.Pro138=) rs141748215 0.00026
NM_004974.4(KCNA2):c.1047A>G (p.Ala349=) rs371979518 0.00026
NM_004974.4(KCNA2):c.372G>A (p.Glu124=) rs200499541 0.00026
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_177550.5(SLC13A5):c.1366G>A (p.Val456Ile) rs146047560 0.00026
NM_001127222.2(CACNA1A):c.62C>T (p.Ala21Val) rs15999 0.00025
NM_001958.5(EEF1A2):c.807C>T (p.Thr269=) rs147062680 0.00025
NM_004975.4(KCNB1):c.2324C>A (p.Pro775His) rs530927636 0.00025
NM_007254.4(PNKP):c.671G>A (p.Arg224His) rs199705876 0.00025
NM_015192.4(PLCB1):c.2907C>T (p.Ser969=) rs368328261 0.00025
NM_020708.5(SLC12A5):c.2013-10C>T rs374272959 0.00025
NM_177550.5(SLC13A5):c.232-7G>A rs376066820 0.00025
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_015192.4(PLCB1):c.*295T>C rs376353155 0.00024
NM_020708.5(SLC12A5):c.2547+13C>T rs374783489 0.00024
NM_001127222.2(CACNA1A):c.3035C>A (p.Thr1012Lys) rs573941336 0.00023
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869 0.00023
NM_015192.4(PLCB1):c.2474A>G (p.Lys825Arg) rs146646749 0.00023
NM_015192.4(PLCB1):c.696-18G>T rs371748595 0.00023
NM_015192.4(PLCB1):c.714A>C (p.Pro238=) rs147567110 0.00023
NM_020708.5(SLC12A5):c.2776C>T (p.Arg926Trp) rs370818838 0.00023
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014 0.00022
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00022
NM_004408.4(DNM1):c.2420C>G (p.Ser807Cys) rs935756107 0.00022
NM_004408.4(DNM1):c.2582C>A (p.Pro861His) rs187315526 0.00022
NM_004975.4(KCNB1):c.51G>A (p.Pro17=) rs772184358 0.00022
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=) rs201230929 0.00021
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844 0.00021
NM_004408.4(DNM1):c.235+8C>T rs370555560 0.00021
NM_007254.4(PNKP):c.678G>A (p.Lys226=) rs141969535 0.00021
NM_020708.5(SLC12A5):c.2547+14G>A rs368044730 0.00021
NM_001958.5(EEF1A2):c.30C>T (p.Ile10=) rs376374917 0.00020
NM_004171.4(SLC1A2):c.92G>A (p.Arg31Gln) rs199599866 0.00020
NM_004408.4(DNM1):c.1386C>T (p.Thr462=) rs372666180 0.00020
NM_004974.4(KCNA2):c.79G>A (p.Ala27Thr) rs750618978 0.00020
NM_007254.4(PNKP):c.1387-37A>T rs530790386 0.00020
NM_001127222.2(CACNA1A):c.1781+7C>A rs202005119 0.00019
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=) rs376641545 0.00019
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) rs749357610 0.00019
NM_001127222.2(CACNA1A):c.4866+13T>C rs368876802 0.00019
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=) rs17846921 0.00019
NM_001127222.2(CACNA1A):c.6339+10G>C rs376238265 0.00019
NM_004408.4(DNM1):c.1586A>G (p.Asn529Ser) rs150040014 0.00019
NM_007254.4(PNKP):c.1281C>T (p.Asp427=) rs770775129 0.00019
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) rs774995635 0.00019
NM_007254.4(PNKP):c.198+9G>A rs370222304 0.00019
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151 0.00019
NM_015509.4(NECAP1):c.791A>G (p.Asn264Ser) rs145154841 0.00019
NM_001127222.2(CACNA1A):c.784+10C>T rs781363787 0.00018
NM_004975.4(KCNB1):c.2298G>T (p.Leu766=) rs773587323 0.00018
NM_007254.4(PNKP):c.1298+14G>A rs559532107 0.00018
NM_020708.5(SLC12A5):c.2118C>T (p.Ile706=) rs3746521 0.00018
NM_177550.5(SLC13A5):c.642C>T (p.Tyr214=) rs148755614 0.00018
NM_001127222.2(CACNA1A):c.1545C>T (p.Ser515=) rs372275167 0.00017
NM_001127222.2(CACNA1A):c.6474C>T (p.Arg2158=) rs368016666 0.00017
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His) rs727503832 0.00017
NM_004975.4(KCNB1):c.2520C>T (p.Asp840=) rs372147544 0.00017
NM_004975.4(KCNB1):c.568-18A>G rs190903326 0.00017
NM_015192.4(PLCB1):c.*1252T>A rs537113179 0.00017
NM_015192.4(PLCB1):c.1433G>T (p.Gly478Val) rs146833633 0.00017
NM_015192.4(PLCB1):c.3347C>T (p.Ala1116Val) rs148936543 0.00017
NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met) rs372801738 0.00017
NM_177550.5(SLC13A5):c.741C>T (p.Leu247=) rs138520827 0.00017
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001127222.2(CACNA1A):c.2907G>A (p.Pro969=) rs772557121 0.00016
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp) rs757026025 0.00016
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=) rs370541345 0.00016
NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=) rs374555263 0.00016
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn) rs371595464 0.00016
NM_001127222.2(CACNA1A):c.6339+11C>T rs190260468 0.00016
NM_001958.5(EEF1A2):c.789C>T (p.Pro263=) rs148075587 0.00016
NM_004408.4(DNM1):c.1335+8G>A rs374438127 0.00016
NM_004408.4(DNM1):c.2430G>A (p.Gly810=) rs1007155416 0.00016
NM_007254.4(PNKP):c.1413T>C (p.His471=) rs370017666 0.00016
NM_015192.4(PLCB1):c.*1848A>T rs773609998 0.00016
NM_015192.4(PLCB1):c.1250+17T>A rs776777689 0.00016
NM_015192.4(PLCB1):c.1489T>G (p.Phe497Val) rs752634021 0.00016
NM_015192.4(PLCB1):c.3584A>G (p.His1195Arg) rs186429469 0.00016
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) rs117209694 0.00016
NM_020708.5(SLC12A5):c.53-3C>T rs367992610 0.00016
NM_177550.5(SLC13A5):c.1156+9C>T rs201530285 0.00016
NM_177550.5(SLC13A5):c.1395C>T (p.Asn465=) rs150722760 0.00016
NM_177550.5(SLC13A5):c.285C>T (p.Ile95=) rs149068818 0.00016
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met) rs778274864 0.00015
NM_004975.4(KCNB1):c.1356T>C (p.Asp452=) rs775898692 0.00015
NM_007254.4(PNKP):c.1412A>T (p.His471Leu) rs142032281 0.00015
NM_007254.4(PNKP):c.179G>A (p.Arg60Gln) rs374743798 0.00015
NM_015192.4(PLCB1):c.3569C>G (p.Pro1190Arg) rs200781362 0.00015
NM_177550.5(SLC13A5):c.1276-19C>A rs200223186 0.00015
NM_177550.5(SLC13A5):c.504C>T (p.Ala168=) rs141506210 0.00015
NM_001127222.2(CACNA1A):c.1500G>A (p.Thr500=) rs373192672 0.00014
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=) rs376684786 0.00014
NM_001127222.2(CACNA1A):c.5840-7C>T rs372261381 0.00014
NM_001127222.2(CACNA1A):c.6084G>A (p.Pro2028=) rs374954726 0.00014
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=) rs745609731 0.00014
NM_001127222.2(CACNA1A):c.6760G>C (p.Glu2254Gln) rs779063280 0.00014
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser) rs17846908 0.00014
NM_001958.5(EEF1A2):c.526G>A (p.Ala176Thr) rs200840944 0.00014
NM_003705.5(SLC25A12):c.1171+17C>G rs370591049 0.00014
NM_003705.5(SLC25A12):c.930+3dup rs746487507 0.00014
NM_004975.4(KCNB1):c.1551G>A (p.Ser517=) rs377030406 0.00014
NM_004975.4(KCNB1):c.2059G>A (p.Val687Ile) rs372263564 0.00014
NM_007254.4(PNKP):c.106G>A (p.Gly36Arg) rs949517384 0.00014
NM_007254.4(PNKP):c.1448+13A>G rs748882543 0.00014
NM_015192.4(PLCB1):c.*1979T>G rs1002235917 0.00014
NM_015192.4(PLCB1):c.116C>T (p.Thr39Ile) rs751520312 0.00014
NM_015192.4(PLCB1):c.639A>C (p.Arg213Ser) rs140899287 0.00014
NM_015509.4(NECAP1):c.714G>A (p.Thr238=) rs759118416 0.00014
NM_016373.4(WWOX):c.499C>T (p.Arg167Cys) rs201228765 0.00014
NM_016373.4(WWOX):c.517-17A>G rs79423401 0.00014
NM_016373.4(WWOX):c.946G>C (p.Val316Leu) rs201941494 0.00014
NM_020708.5(SLC12A5):c.2439G>A (p.Met813Ile) rs200191107 0.00014
NM_177550.5(SLC13A5):c.144C>T (p.Tyr48=) rs138537951 0.00014
NM_177550.5(SLC13A5):c.927G>A (p.Leu309=) rs141287518 0.00014
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg) rs190551509 0.00013
NM_001127222.2(CACNA1A):c.4388+8G>A rs376248243 0.00013
NM_001127222.2(CACNA1A):c.539+20C>T rs369959565 0.00013
NM_001127222.2(CACNA1A):c.539+9C>T rs369146237 0.00013
NM_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val) rs763414737 0.00013
NM_001958.5(EEF1A2):c.843G>A (p.Ala281=) rs139282309 0.00013
NM_004408.4(DNM1):c.849+6C>T rs527412689 0.00013
NM_004974.4(KCNA2):c.618C>T (p.Ser206=) rs566902174 0.00013
NM_007254.4(PNKP):c.1257C>T (p.Val419=) rs369003964 0.00013
NM_007254.4(PNKP):c.1298+2_1298+5dup rs776617733 0.00013
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser) rs201221600 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_177550.5(SLC13A5):c.103-15G>A rs374410291 0.00013
NM_177550.5(SLC13A5):c.1291G>A (p.Val431Met) rs201036096 0.00013
NM_177550.5(SLC13A5):c.4G>A (p.Ala2Thr) rs146396085 0.00013
NM_177550.5(SLC13A5):c.681G>A (p.Thr227=) rs139698810 0.00013
NM_177550.5(SLC13A5):c.752C>T (p.Ala251Val) rs150517372 0.00013
NM_177550.5(SLC13A5):c.882C>T (p.Asn294=) rs143504660 0.00013
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001127222.2(CACNA1A):c.6526+11C>G rs767916527 0.00012
NM_001127222.2(CACNA1A):c.6584G>A (p.Arg2195Gln) rs373192655 0.00012
NM_001958.5(EEF1A2):c.621+10G>A rs750169560 0.00012
NM_001958.5(EEF1A2):c.672C>T (p.Ser224=) rs200051020 0.00012
NM_004975.4(KCNB1):c.1367G>A (p.Arg456Gln) rs761082551 0.00012
NM_004975.4(KCNB1):c.2364G>A (p.Thr788=) rs112132596 0.00012
NM_007254.4(PNKP):c.1211G>A (p.Arg404His) rs549069697 0.00012
NM_015192.4(PLCB1):c.1761A>G (p.Val587=) rs143755415 0.00012
NM_015192.4(PLCB1):c.2354C>T (p.Thr785Met) rs202199288 0.00012
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser) rs150241349 0.00012
NM_015509.4(NECAP1):c.196+12G>A rs371530521 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_177550.5(SLC13A5):c.369-12C>T rs375349735 0.00012
NM_001127222.2(CACNA1A):c.1782-6C>T rs201350764 0.00011
NM_001127222.2(CACNA1A):c.3883-15T>C rs767715097 0.00011
NM_001127222.2(CACNA1A):c.5400+18G>A rs16040 0.00011
NM_001127222.2(CACNA1A):c.5859G>A (p.Gly1953=) rs200625174 0.00011
NM_001127222.2(CACNA1A):c.5C>T (p.Ala2Val) rs927310190 0.00011
NM_001127222.2(CACNA1A):c.6468C>T (p.Arg2156=) rs745336852 0.00011
NM_001127222.2(CACNA1A):c.6573G>A (p.Pro2191=) rs554430594 0.00011
NM_001127222.2(CACNA1A):c.924G>A (p.Val308=) rs754935637 0.00011
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187 0.00011
NM_004975.4(KCNB1):c.630G>A (p.Thr210=) rs150723418 0.00011
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_015509.4(NECAP1):c.196+19C>T rs770618397 0.00011
NM_015509.4(NECAP1):c.780-13T>C rs200758236 0.00011
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu) rs200847456 0.00011
NM_020708.5(SLC12A5):c.1237+6G>A rs200873569 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_177550.5(SLC13A5):c.60C>T (p.Thr20=) rs141481217 0.00011
NM_001127222.2(CACNA1A):c.1212C>G (p.Leu404=) rs540579196 0.00010
NM_001127222.2(CACNA1A):c.4290G>A (p.Ala1430=) rs555959123 0.00010
NM_001127222.2(CACNA1A):c.5134-4A>G rs200165596 0.00010
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn) rs368257155 0.00010
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys) rs202002033 0.00010
NM_004975.4(KCNB1):c.1997C>T (p.Pro666Leu) rs201212125 0.00010
NM_004975.4(KCNB1):c.2105C>T (p.Ala702Val) rs144379782 0.00010
NM_007254.4(PNKP):c.1298+6G>A rs578207030 0.00010
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_015192.4(PLCB1):c.*785A>T rs886056972 0.00010
NM_015192.4(PLCB1):c.2588G>C (p.Gly863Ala) rs148288081 0.00010
NM_015192.4(PLCB1):c.3129G>T (p.Thr1043=) rs141102170 0.00010
NM_020708.5(SLC12A5):c.2430C>T (p.Asn810=) rs540937956 0.00010
NM_020708.5(SLC12A5):c.284C>T (p.Pro95Leu) rs780511606 0.00010
NM_021072.4(HCN1):c.2390T>G (p.Val797Gly) rs150936707 0.00010
NM_177550.5(SLC13A5):c.1077G>A (p.Val359=) rs372363091 0.00010
NM_177550.5(SLC13A5):c.321G>A (p.Lys107=) rs138023567 0.00010
NM_177550.5(SLC13A5):c.357C>T (p.Ala119=) rs748950933 0.00010
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro) rs187259531 0.00009
NM_001127222.2(CACNA1A):c.2046C>T (p.Gly682=) rs535077726 0.00009
NM_001127222.2(CACNA1A):c.2104+6C>T rs372970603 0.00009
NM_001127222.2(CACNA1A):c.2105-15C>T rs190471428 0.00009
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu) rs551380805 0.00009
NM_001127222.2(CACNA1A):c.3166C>T (p.Arg1056Cys) rs187393245 0.00009
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile) rs369742607 0.00009
NM_001127222.2(CACNA1A):c.3564C>T (p.Asn1188=) rs200209920 0.00009
NM_001127222.2(CACNA1A):c.3701G>A (p.Arg1234His) rs373183625 0.00009
NM_001127222.2(CACNA1A):c.3774C>T (p.Ile1258=) rs759641758 0.00009
NM_001127222.2(CACNA1A):c.3883-18C>T rs745383274 0.00009
NM_001127222.2(CACNA1A):c.3911A>C (p.Gln1304Pro) rs755279579 0.00009
NM_001127222.2(CACNA1A):c.4756-4C>T rs199841998 0.00009
NM_001127222.2(CACNA1A):c.5134-20G>A rs756590078 0.00009
NM_001127222.2(CACNA1A):c.539+17A>G rs752280152 0.00009
NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu) rs772988279 0.00009
NM_001127222.2(CACNA1A):c.6051-20G>A rs371831228 0.00009
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val) rs765051582 0.00009
NM_001127222.2(CACNA1A):c.6694C>T (p.Arg2232Trp) rs751926317 0.00009
NM_001127222.2(CACNA1A):c.6782G>A (p.Gly2261Asp) rs751364653 0.00009
NM_001958.5(EEF1A2):c.621C>T (p.Asn207=) rs544401782 0.00009
NM_004408.4(DNM1):c.1200G>A (p.Thr400=) rs373198034 0.00009
NM_004408.4(DNM1):c.1315G>A (p.Val439Ile) rs771062230 0.00009
NM_004408.4(DNM1):c.2364G>A (p.Val788=) rs904300233 0.00009
NM_004408.4(DNM1):c.797G>A (p.Arg266His) rs200136679 0.00009
NM_004975.4(KCNB1):c.1071C>T (p.Asp357=) rs199964916 0.00009
NM_004975.4(KCNB1):c.1266G>C (p.Glu422Asp) rs755843579 0.00009
NM_004975.4(KCNB1):c.1305T>C (p.Ala435=) rs201403239 0.00009
NM_004975.4(KCNB1):c.1654G>A (p.Ala552Thr) rs146429493 0.00009
NM_004975.4(KCNB1):c.1861G>T (p.Ala621Ser) rs201960228 0.00009
NM_004975.4(KCNB1):c.2115C>T (p.Val705=) rs199910304 0.00009
NM_004975.4(KCNB1):c.2472C>T (p.Gly824=) rs375177375 0.00009
NM_007254.4(PNKP):c.109C>T (p.Pro37Ser) rs536541839 0.00009
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_015192.4(PLCB1):c.*1682G>A rs1035139433 0.00009
NM_015192.4(PLCB1):c.*632A>G rs886056970 0.00009
NM_015509.4(NECAP1):c.252G>A (p.Thr84=) rs149036367 0.00009
NM_016373.4(WWOX):c.406A>G (p.Ile136Val) rs193027041 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.1926C>T (p.Gly642=) rs748908890 0.00009
NM_020708.5(SLC12A5):c.2840C>G (p.Ala947Gly) rs199934904 0.00009
NM_020708.5(SLC12A5):c.3260-3C>A rs762852631 0.00009
NM_020708.5(SLC12A5):c.3347C>A (p.Ser1116Tyr) rs150192950 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=) rs377458008 0.00008
NM_001127222.2(CACNA1A):c.1668+20A>G rs543880615 0.00008
NM_001127222.2(CACNA1A):c.2010C>T (p.Asn670=) rs779250946 0.00008
NM_001127222.2(CACNA1A):c.321C>T (p.Thr107=) rs759754710 0.00008
NM_001127222.2(CACNA1A):c.3368G>A (p.Arg1123Gln) rs769497214 0.00008
NM_001127222.2(CACNA1A):c.3607G>A (p.Glu1203Lys) rs375415852 0.00008
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr) rs201269793 0.00008
NM_001127222.2(CACNA1A):c.4591-5C>T rs199631921 0.00008
NM_001127222.2(CACNA1A):c.4779T>C (p.Tyr1593=) rs774619836 0.00008
NM_001127222.2(CACNA1A):c.5401-10G>A rs370129945 0.00008
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val) rs763045560 0.00008
NM_001127222.2(CACNA1A):c.979-10C>A rs374647321 0.00008
NM_001958.5(EEF1A2):c.183C>T (p.Asp61=) rs147929770 0.00008
NM_004408.4(DNM1):c.117C>T (p.Gly39=) rs142432944 0.00008
NM_004974.4(KCNA2):c.1023T>C (p.Leu341=) rs139525148 0.00008
NM_007254.4(PNKP):c.883G>A (p.Ala295Thr) rs368887106 0.00008
NM_015192.4(PLCB1):c.*381G>A rs765987244 0.00008
NM_015192.4(PLCB1):c.100-17T>C rs370810694 0.00008
NM_015192.4(PLCB1):c.2127G>A (p.Arg709=) rs3761169 0.00008
NM_015192.4(PLCB1):c.3590C>T (p.Thr1197Ile) rs190019296 0.00008
NM_015192.4(PLCB1):c.3606G>C (p.Glu1202Asp) rs200558916 0.00008
NM_015509.4(NECAP1):c.114A>G (p.Leu38=) rs141295769 0.00008
NM_015509.4(NECAP1):c.492+19A>G rs150800929 0.00008
NM_020708.5(SLC12A5):c.2182-11C>A rs369990409 0.00008
NM_020708.5(SLC12A5):c.2787+3G>A rs372923917 0.00008
NM_177550.5(SLC13A5):c.1365C>T (p.Leu455=) rs572994797 0.00008
NM_177550.5(SLC13A5):c.862G>A (p.Gly288Arg) rs761215437 0.00008
NM_177550.5(SLC13A5):c.931C>T (p.Pro311Ser) rs201678684 0.00008
NM_001127222.2(CACNA1A):c.2172+9G>A rs368353124 0.00007
NM_001127222.2(CACNA1A):c.2257G>A (p.Ala753Thr) rs17846944 0.00007
NM_001127222.2(CACNA1A):c.2783C>T (p.Pro928Leu) rs754998423 0.00007
NM_001127222.2(CACNA1A):c.2788C>T (p.Arg930Trp) rs367882437 0.00007
NM_001127222.2(CACNA1A):c.3048C>G (p.Asp1016Glu) rs773821155 0.00007
NM_001127222.2(CACNA1A):c.3063C>A (p.Asp1021Glu) rs1038705410 0.00007
NM_001127222.2(CACNA1A):c.4338G>A (p.Leu1446=) rs371952826 0.00007
NM_001127222.2(CACNA1A):c.5394G>A (p.Ser1798=) rs201681631 0.00007
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=) rs371972266 0.00007
NM_001127222.2(CACNA1A):c.6527-16C>T rs752985059 0.00007
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00007
NM_001605.3(AARS1):c.1001A>T (p.Tyr334Phe) rs527414180 0.00007
NM_001958.5(EEF1A2):c.171C>T (p.Ala57=) rs572244463 0.00007
NM_001958.5(EEF1A2):c.369C>T (p.Phe123=) rs375710105 0.00007
NM_004408.4(DNM1):c.1422+18C>T rs747813685 0.00007
NM_004408.4(DNM1):c.1772C>T (p.Thr591Met) rs772239774 0.00007
NM_004408.4(DNM1):c.2541G>A (p.Ser847=) rs545142847 0.00007
NM_004974.4(KCNA2):c.1143T>C (p.Val381=) rs200847196 0.00007
NM_004974.4(KCNA2):c.30C>T (p.Asp10=) rs757960714 0.00007
NM_004975.4(KCNB1):c.2091C>T (p.Asn697=) rs746382408 0.00007
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.1441G>A (p.Gly481Ser) rs146941866 0.00007
NM_007254.4(PNKP):c.1515A>G (p.Leu505=) rs369748873 0.00007
NM_007254.4(PNKP):c.670C>T (p.Arg224Cys) rs761117623 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.232G>A (p.Ala78Thr) rs761393253 0.00007
NM_015192.4(PLCB1):c.3189-14C>T rs777913912 0.00007
NM_015192.4(PLCB1):c.738G>A (p.Met246Ile) rs375123870 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_177550.5(SLC13A5):c.1074T>C (p.Thr358=) rs369156060 0.00007
NM_177550.5(SLC13A5):c.1442G>A (p.Arg481His) rs762789388 0.00007
NM_177550.5(SLC13A5):c.1461G>A (p.Pro487=) rs374067396 0.00007
NM_000836.4(GRIN2D):c.2888G>A (p.Arg963His) rs964725459 0.00006
NM_000836.4(GRIN2D):c.3888G>C (p.Arg1296Ser) rs375048004 0.00006
NM_001127221.2(CACNA1A):c.5555T>C (p.Met1852Thr) rs368791169 0.00006
NM_001127222.2(CACNA1A):c.1353C>G (p.Pro451=) rs569115027 0.00006
NM_001127222.2(CACNA1A):c.1593C>T (p.Ser531=) rs372090886 0.00006
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr) rs201666606 0.00006
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=) rs780515850 0.00006
NM_001127222.2(CACNA1A):c.2749G>A (p.Glu917Lys) rs368081042 0.00006
NM_001127222.2(CACNA1A):c.2812G>C (p.Gly938Arg) rs771423362 0.00006
NM_001127222.2(CACNA1A):c.2853G>A (p.Ala951=) rs761522418 0.00006
NM_001127222.2(CACNA1A):c.294-6C>T rs764502828 0.00006
NM_001127222.2(CACNA1A):c.2940C>G (p.Arg980=) rs1188340576 0.00006
NM_001127222.2(CACNA1A):c.297C>T (p.Pro99=) rs370211834 0.00006
NM_001127222.2(CACNA1A):c.3053G>C (p.Arg1018Pro) rs762288499 0.00006
NM_001127222.2(CACNA1A):c.3489C>T (p.Pro1163=) rs771567638 0.00006
NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val) rs372017604 0.00006
NM_001127222.2(CACNA1A):c.4388+12G>A rs924927963 0.00006
NM_001127222.2(CACNA1A):c.4404G>A (p.Ser1468=) rs557205300 0.00006
NM_001127222.2(CACNA1A):c.4710G>A (p.Thr1570=) rs761547761 0.00006
NM_001127222.2(CACNA1A):c.546G>A (p.Leu182=) rs368347143 0.00006
NM_001127222.2(CACNA1A):c.549G>T (p.Ala183=) rs16004 0.00006
NM_001127222.2(CACNA1A):c.5731+14A>G rs762304728 0.00006
NM_001127222.2(CACNA1A):c.5731+14_5731+15del rs775317628 0.00006
NM_001127222.2(CACNA1A):c.5740G>A (p.Asp1914Asn) rs371957992 0.00006
NM_001127222.2(CACNA1A):c.5940+12G>A rs780841537 0.00006
NM_001127222.2(CACNA1A):c.5994A>G (p.Glu1998=) rs16045 0.00006
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412 0.00006
NM_001127222.2(CACNA1A):c.6067G>A (p.Gly2023Ser) rs574805525 0.00006
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly) rs771768635 0.00006
NM_001127222.2(CACNA1A):c.6190-3C>A rs368480650 0.00006
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln) rs769040794 0.00006
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln) rs1033214914 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127222.2(CACNA1A):c.831C>T (p.Pro277=) rs568635317 0.00006
NM_001127222.2(CACNA1A):c.903C>T (p.Phe301=) rs17846910 0.00006
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_001605.3(AARS1):c.1878C>T (p.Gly626=) rs752673097 0.00006
NM_001958.5(EEF1A2):c.1029+13G>A rs374272155 0.00006
NM_001958.5(EEF1A2):c.1030-10C>A rs571276508 0.00006
NM_001958.5(EEF1A2):c.1182G>T (p.Leu394=) rs199643016 0.00006
NM_001958.5(EEF1A2):c.1264+18G>A rs748993770 0.00006
NM_001958.5(EEF1A2):c.1265-13C>A rs1163487010 0.00006
NM_001958.5(EEF1A2):c.145-16C>T rs369022379 0.00006
NM_001958.5(EEF1A2):c.145-8C>T rs554786640 0.00006
NM_001958.5(EEF1A2):c.219C>T (p.Ile73=) rs371263699 0.00006
NM_001958.5(EEF1A2):c.345C>T (p.Ile115=) rs138846735 0.00006
NM_001958.5(EEF1A2):c.561C>T (p.Thr187=) rs376891760 0.00006
NM_001958.5(EEF1A2):c.726G>A (p.Thr242=) rs1005974432 0.00006
NM_001958.5(EEF1A2):c.999G>A (p.Pro333=) rs760721599 0.00006
NM_004113.6(FGF12):c.88A>G (p.Thr30Ala) rs142373936 0.00006
NM_004171.4(SLC1A2):c.344G>A (p.Arg115His) rs200754925 0.00006
NM_004408.4(DNM1):c.1350G>T (p.Pro450=) rs147897973 0.00006
NM_004408.4(DNM1):c.725T>C (p.Ile242Thr) rs138357499 0.00006
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys) rs138053929 0.00006
NM_004408.4(DNM1):c.849+7G>A rs779667787 0.00006
NM_004408.4(DNM1):c.992+13C>A rs762733307 0.00006
NM_004974.4(KCNA2):c.1146G>A (p.Pro382=) rs370714935 0.00006
NM_004974.4(KCNA2):c.292T>C (p.Leu98=) rs369845519 0.00006
NM_004974.4(KCNA2):c.35C>T (p.Ala12Val) rs372822052 0.00006
NM_004975.4(KCNB1):c.1655C>T (p.Ala552Val) rs370974891 0.00006
NM_004975.4(KCNB1):c.1905T>C (p.Gly635=) rs117166054 0.00006
NM_004975.4(KCNB1):c.2375C>T (p.Ser792Leu) rs777053418 0.00006
NM_004975.4(KCNB1):c.2521G>A (p.Val841Ile) rs542708318 0.00006
NM_004975.4(KCNB1):c.546C>T (p.Pro182=) rs373223027 0.00006
NM_007254.4(PNKP):c.1003G>A (p.Gly335Ser) rs768567927 0.00006
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln) rs780121125 0.00006
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.1186A>G (p.Arg396Gly) rs563918674 0.00006
NM_007254.4(PNKP):c.1387-11G>A rs200785744 0.00006
NM_007254.4(PNKP):c.1397T>C (p.Met466Thr) rs145886749 0.00006
NM_007254.4(PNKP):c.1443C>G (p.Gly481=) rs376213146 0.00006
NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu) rs753116883 0.00006
NM_007254.4(PNKP):c.335C>G (p.Pro112Arg) rs567905136 0.00006
NM_007254.4(PNKP):c.407C>T (p.Pro136Leu) rs11555414 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.*880G>T rs886056973 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.2171A>G (p.Asn724Ser) rs762968564 0.00006
NM_015192.4(PLCB1):c.2982C>T (p.Leu994=) rs770134240 0.00006
NM_015192.4(PLCB1):c.3423+6C>T rs779690813 0.00006
NM_015192.4(PLCB1):c.3533A>G (p.Asn1178Ser) rs200309017 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_015509.4(NECAP1):c.134G>C (p.Gly45Ala) rs973563199 0.00006
NM_015509.4(NECAP1):c.489C>T (p.Ile163=) rs773465096 0.00006
NM_015509.4(NECAP1):c.56T>C (p.Val19Ala) rs780390533 0.00006
NM_015509.4(NECAP1):c.581A>G (p.Lys194Arg) rs765855460 0.00006
NM_020708.5(SLC12A5):c.1317C>T (p.Ile439=) rs10460627 0.00006
NM_020708.5(SLC12A5):c.1381G>A (p.Val461Ile) rs201487205 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.1956G>A (p.Ala652=) rs190924143 0.00006
NM_020708.5(SLC12A5):c.2012+14G>T rs1180929890 0.00006
NM_020708.5(SLC12A5):c.2210A>G (p.Lys737Arg) rs774596447 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_020708.5(SLC12A5):c.947G>A (p.Arg316Gln) rs144471748 0.00006
NM_177550.5(SLC13A5):c.1055+16A>C rs756534283 0.00006
NM_177550.5(SLC13A5):c.1068T>C (p.Asp356=) rs369080598 0.00006
NM_177550.5(SLC13A5):c.1138C>T (p.Arg380Cys) rs377270604 0.00006
NM_177550.5(SLC13A5):c.277G>A (p.Gly93Ser) rs201070023 0.00006
NM_177550.5(SLC13A5):c.547+8C>T rs1270343571 0.00006
NM_177550.5(SLC13A5):c.548-17C>T rs761273591 0.00006
NM_177550.5(SLC13A5):c.663C>T (p.Thr221=) rs373831482 0.00006
NM_177550.5(SLC13A5):c.714C>T (p.Asn238=) rs754553205 0.00006
NM_001127222.2(CACNA1A):c.105C>T (p.Gly35=) rs745876675 0.00005
NM_001127222.2(CACNA1A):c.1199-9C>T rs529977616 0.00005
NM_001127222.2(CACNA1A):c.1305C>T (p.Pro435=) rs376451601 0.00005
NM_001127222.2(CACNA1A):c.2328G>A (p.Gln776=) rs754796882 0.00005
NM_001127222.2(CACNA1A):c.2547C>T (p.Leu849=) rs768719398 0.00005
NM_001127222.2(CACNA1A):c.2626G>A (p.Gly876Ser) rs763054302 0.00005
NM_001127222.2(CACNA1A):c.3123C>A (p.Gly1041=) rs377466062 0.00005
NM_001127222.2(CACNA1A):c.4125C>T (p.Asn1375=) rs767026062 0.00005
NM_001127222.2(CACNA1A):c.4591-9C>G rs16032 0.00005
NM_001127222.2(CACNA1A):c.4896C>T (p.Phe1632=) rs374613316 0.00005
NM_001127222.2(CACNA1A):c.5268T>C (p.Ala1756=) rs373678557 0.00005
NM_001127222.2(CACNA1A):c.561G>A (p.Thr187=) rs777316026 0.00005
NM_001127222.2(CACNA1A):c.5931C>T (p.Arg1977=) rs377136737 0.00005
NM_001127222.2(CACNA1A):c.631+15G>A rs372178435 0.00005
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=) rs202216404 0.00005
NM_001127222.2(CACNA1A):c.6379G>A (p.Val2127Met) rs368183370 0.00005
NM_001127222.2(CACNA1A):c.6473G>A (p.Arg2158His) rs375859889 0.00005
NM_001127222.2(CACNA1A):c.6663G>A (p.Pro2221=) rs1447103387 0.00005
NM_001127222.2(CACNA1A):c.6695G>A (p.Arg2232Gln) rs777894367 0.00005
NM_001127222.2(CACNA1A):c.6751G>A (p.Glu2251Lys) rs758625682 0.00005
NM_001127222.2(CACNA1A):c.6770C>T (p.Ala2257Val) rs755099305 0.00005
NM_001127222.2(CACNA1A):c.807G>A (p.Pro269=) rs772730357 0.00005
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln) rs142850278 0.00005
NM_001958.5(EEF1A2):c.621+9C>T rs758255976 0.00005
NM_001958.5(EEF1A2):c.675C>T (p.Gly225=) rs749250921 0.00005
NM_001958.5(EEF1A2):c.738G>C (p.Leu246=) rs1333751988 0.00005
NM_001958.5(EEF1A2):c.773-14C>T rs754466423 0.00005
NM_001958.5(EEF1A2):c.773-6C>T rs377166905 0.00005
NM_001958.5(EEF1A2):c.912C>T (p.Pro304=) rs370076840 0.00005
NM_004408.4(DNM1):c.1422+6C>T rs773817727 0.00005
NM_004408.4(DNM1):c.1422+7C>A rs761674210 0.00005
NM_004408.4(DNM1):c.1893+12G>A rs376700785 0.00005
NM_004408.4(DNM1):c.2226C>T (p.Ile742=) rs760982623 0.00005
NM_004974.4(KCNA2):c.1107C>T (p.Val369=) rs141466713 0.00005
NM_004975.4(KCNB1):c.1705G>A (p.Val569Ile) rs376490656 0.00005
NM_004975.4(KCNB1):c.2249C>T (p.Ala750Val) rs750157634 0.00005
NM_004975.4(KCNB1):c.2250G>A (p.Ala750=) rs368736609 0.00005
NM_004975.4(KCNB1):c.2327A>G (p.Lys776Arg) rs756982426 0.00005
NM_004975.4(KCNB1):c.39C>T (p.Thr13=) rs775536644 0.00005
NM_004975.4(KCNB1):c.504C>T (p.Cys168=) rs139960830 0.00005
NM_004975.4(KCNB1):c.855C>T (p.Ser285=) rs367938880 0.00005
NM_007254.4(PNKP):c.1126+7G>A rs368201882 0.00005
NM_007254.4(PNKP):c.1163C>T (p.Ser388Leu) rs146311500 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_007254.4(PNKP):c.355C>A (p.Pro119Thr) rs376650849 0.00005
NM_007254.4(PNKP):c.782C>T (p.Pro261Leu) rs755468325 0.00005
NM_007254.4(PNKP):c.861G>C (p.Val287=) rs75203375 0.00005
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_015192.4(PLCB1):c.*1145A>C rs535936703 0.00005
NM_015192.4(PLCB1):c.*126A>G rs1049772195 0.00005
NM_015192.4(PLCB1):c.*1930G>T rs763981676 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_015192.4(PLCB1):c.3111+6C>T rs971351506 0.00005
NM_015509.4(NECAP1):c.301+15A>C rs779900246 0.00005
NM_015509.4(NECAP1):c.417A>G (p.Glu139=) rs778506326 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_020708.5(SLC12A5):c.2375T>A (p.Ile792Asn) rs769820337 0.00005
NM_177550.5(SLC13A5):c.1449C>T (p.Ile483=) rs769760541 0.00005
NM_177550.5(SLC13A5):c.498C>T (p.Thr166=) rs906604048 0.00005
NM_000836.4(GRIN2D):c.2611T>C (p.Trp871Arg) rs1229429201 0.00004
NM_000836.4(GRIN2D):c.2749A>G (p.Ser917Gly) rs1273701038 0.00004
NM_001127221.2(CACNA1A):c.5578T>C (p.Ser1860Pro) rs374688464 0.00004
NM_001127222.2(CACNA1A):c.1080A>C (p.Ser360=) rs920116858 0.00004
NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=) rs764453012 0.00004
NM_001127222.2(CACNA1A):c.1262G>A (p.Arg421Gln) rs752902118 0.00004
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys) rs759782636 0.00004
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001127222.2(CACNA1A):c.1627C>T (p.Arg543Trp) rs1349147232 0.00004
NM_001127222.2(CACNA1A):c.2105-8A>G rs763822129 0.00004
NM_001127222.2(CACNA1A):c.219G>C (p.Thr73=) rs781239273 0.00004
NM_001127222.2(CACNA1A):c.2279+12del rs764839773 0.00004
NM_001127222.2(CACNA1A):c.2280-16_2280-7del rs756552078 0.00004
NM_001127222.2(CACNA1A):c.2677C>T (p.Arg893Trp) rs1262547488 0.00004
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser) rs751726770 0.00004
NM_001127222.2(CACNA1A):c.2712C>T (p.His904=) rs759320715 0.00004
NM_001127222.2(CACNA1A):c.2718G>A (p.Arg906=) rs909344317 0.00004
NM_001127222.2(CACNA1A):c.27G>T (p.Pro9=) rs547576283 0.00004
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr) rs1406066197 0.00004
NM_001127222.2(CACNA1A):c.2982_2987dup (p.Gly995_Pro996dup) rs995883431 0.00004
NM_001127222.2(CACNA1A):c.3106G>A (p.Gly1036Arg) rs762343454 0.00004
NM_001127222.2(CACNA1A):c.3120G>A (p.Ser1040=) rs763969240 0.00004
NM_001127222.2(CACNA1A):c.3122G>T (p.Gly1041Val) rs370396470 0.00004
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser) rs775079932 0.00004
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr) rs554091859 0.00004
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile) rs373224251 0.00004
NM_001127222.2(CACNA1A):c.3612G>A (p.Glu1204=) rs749273165 0.00004
NM_001127222.2(CACNA1A):c.3621C>T (p.Asp1207=) rs368211900 0.00004
NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn) rs750231498 0.00004
NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=) rs368048030 0.00004
NM_001127222.2(CACNA1A):c.3843C>T (p.Tyr1281=) rs774224202 0.00004
NM_001127222.2(CACNA1A):c.3882+7G>A rs376836245 0.00004
NM_001127222.2(CACNA1A):c.3989+11T>C rs762686149 0.00004
NM_001127222.2(CACNA1A):c.4292G>A (p.Arg1431Gln) rs369440853 0.00004
NM_001127222.2(CACNA1A):c.4371G>A (p.Thr1457=) rs368100270 0.00004
NM_001127222.2(CACNA1A):c.4521C>A (p.Ala1507=) rs183712771 0.00004
NM_001127222.2(CACNA1A):c.4866+10A>G rs746939321 0.00004
NM_001127222.2(CACNA1A):c.486C>T (p.Gly162=) rs753180610 0.00004
NM_001127222.2(CACNA1A):c.4879G>A (p.Asp1627Asn) rs573209959 0.00004
NM_001127222.2(CACNA1A):c.4891A>G (p.Ile1631Val) rs539463134 0.00004
NM_001127222.2(CACNA1A):c.5067+11G>A rs761890193 0.00004
NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr) rs371273055 0.00004
NM_001127222.2(CACNA1A):c.539+10G>A rs375079448 0.00004
NM_001127222.2(CACNA1A):c.5401-3C>T rs375947967 0.00004
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=) rs188863534 0.00004
NM_001127222.2(CACNA1A):c.5528+7A>G rs367551746 0.00004
NM_001127222.2(CACNA1A):c.5922G>A (p.Gln1974=) rs773419069 0.00004
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln) rs745775887 0.00004
NM_001127222.2(CACNA1A):c.6160G>A (p.Asp2054Asn) rs761560224 0.00004
NM_001127222.2(CACNA1A):c.6189+9G>T rs568861195 0.00004
NM_001127222.2(CACNA1A):c.6235G>A (p.Glu2079Lys) rs752513542 0.00004
NM_001127222.2(CACNA1A):c.6304-14T>C rs776930613 0.00004
NM_001127222.2(CACNA1A):c.631+14C>T rs1377159542 0.00004
NM_001127222.2(CACNA1A):c.6339+12G>A rs371246823 0.00004
NM_001127222.2(CACNA1A):c.6339+9C>T rs369361580 0.00004
NM_001127222.2(CACNA1A):c.6572C>T (p.Pro2191Leu) rs377294817 0.00004
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp) rs1032588483 0.00004
NM_001127222.2(CACNA1A):c.6715C>T (p.Arg2239Trp) rs759576380 0.00004
NM_001127222.2(CACNA1A):c.6731G>A (p.Arg2244His) rs1057521565 0.00004
NM_001127222.2(CACNA1A):c.687C>T (p.Ile229=) rs544057763 0.00004
NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg) rs765523382 0.00004
NM_001127222.2(CACNA1A):c.784+9A>G rs746215285 0.00004
NM_001127222.2(CACNA1A):c.984C>T (p.Asn328=) rs772301380 0.00004
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324 0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_001605.3(AARS1):c.959G>A (p.Arg320His) rs557600847 0.00004
NM_001958.5(EEF1A2):c.113C>T (p.Thr38Ile) rs781157708 0.00004
NM_001958.5(EEF1A2):c.117T>C (p.Ile39=) rs754859581 0.00004
NM_001958.5(EEF1A2):c.1218G>A (p.Pro406=) rs377632570 0.00004
NM_001958.5(EEF1A2):c.1233T>C (p.Cys411=) rs374077620 0.00004
NM_001958.5(EEF1A2):c.1380G>A (p.Lys460=) rs1295987421 0.00004
NM_001958.5(EEF1A2):c.324+20C>T rs199746748 0.00004
NM_001958.5(EEF1A2):c.351G>A (p.Ala117=) rs148602858 0.00004
NM_001958.5(EEF1A2):c.354G>A (p.Ala118=) rs143957818 0.00004
NM_001958.5(EEF1A2):c.399G>A (p.Thr133=) rs146240185 0.00004
NM_001958.5(EEF1A2):c.513C>A (p.Val171=) rs201149992 0.00004
NM_001958.5(EEF1A2):c.725C>T (p.Thr242Met) rs752137872 0.00004
NM_001958.5(EEF1A2):c.747G>A (p.Pro249=) rs879640448 0.00004
NM_001958.5(EEF1A2):c.771C>T (p.Gly257=) rs1047396966 0.00004
NM_004408.4(DNM1):c.1128+11C>G rs761415279 0.00004
NM_004408.4(DNM1):c.1422+9C>T rs760832551 0.00004
NM_004408.4(DNM1):c.1493+16G>C rs746358072 0.00004
NM_004408.4(DNM1):c.2238C>T (p.Asn746=) rs1057521629 0.00004
NM_004408.4(DNM1):c.2535-20G>C rs753705712 0.00004
NM_004408.4(DNM1):c.386-19C>G rs772469890 0.00004
NM_004408.4(DNM1):c.589+10C>T rs987855255 0.00004
NM_004408.4(DNM1):c.589+15G>A rs535456711 0.00004
NM_004408.4(DNM1):c.850-18C>T rs763158060 0.00004
NM_004408.4(DNM1):c.850-8A>G rs750891102 0.00004
NM_004974.4(KCNA2):c.1050G>A (p.Glu350=) rs771963870 0.00004
NM_004974.4(KCNA2):c.1061G>A (p.Arg354Gln) rs374827915 0.00004
NM_004974.4(KCNA2):c.1179A>G (p.Leu393=) rs549281059 0.00004
NM_004974.4(KCNA2):c.168G>A (p.Glu56=) rs768793748 0.00004
NM_004974.4(KCNA2):c.318A>G (p.Leu106=) rs763135225 0.00004
NM_004974.4(KCNA2):c.840C>T (p.Asp280=) rs571429123 0.00004
NM_004974.4(KCNA2):c.972C>T (p.Ser324=) rs765820644 0.00004
NM_004975.4(KCNB1):c.1336G>A (p.Val446Ile) rs776968332 0.00004
NM_004975.4(KCNB1):c.1388T>C (p.Ile463Thr) rs145421532 0.00004
NM_004975.4(KCNB1):c.1622C>A (p.Ser541Tyr) rs374460751 0.00004
NM_004975.4(KCNB1):c.1879C>T (p.Arg627Trp) rs554351105 0.00004
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp) rs779379680 0.00004
NM_004975.4(KCNB1):c.2093G>A (p.Arg698Gln) rs1449919002 0.00004
NM_004975.4(KCNB1):c.210C>G (p.Leu70=) rs1460995367 0.00004
NM_004975.4(KCNB1):c.2376G>A (p.Ser792=) rs750105922 0.00004
NM_004975.4(KCNB1):c.2456C>T (p.Ala819Val) rs777645076 0.00004
NM_004975.4(KCNB1):c.2561G>A (p.Arg854Gln) rs764648709 0.00004
NM_004975.4(KCNB1):c.375C>T (p.Asp125=) rs201414449 0.00004
NM_004975.4(KCNB1):c.568-5C>T rs185995580 0.00004
NM_004975.4(KCNB1):c.594C>T (p.Phe198=) rs375779334 0.00004
NM_004975.4(KCNB1):c.651C>T (p.Leu217=) rs537777787 0.00004
NM_004975.4(KCNB1):c.840C>T (p.Thr280=) rs748523037 0.00004
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_007254.4(PNKP):c.1126+14T>G rs971508207 0.00004
NM_007254.4(PNKP):c.1126+9C>T rs3739202 0.00004
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025 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.1202C>G (p.Ser401Cys) rs899556646 0.00004
NM_007254.4(PNKP):c.1324G>A (p.Gly442Ser) rs372459137 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.212C>T (p.Pro71Leu) rs772033320 0.00004
NM_007254.4(PNKP):c.264G>T (p.Gly88=) rs766589333 0.00004
NM_007254.4(PNKP):c.275C>T (p.Thr92Ile) rs780440711 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.603dup (p.Lys202Ter) rs796052859 0.00004
NM_007254.4(PNKP):c.61C>G (p.Pro21Ala) rs201748578 0.00004
NM_007254.4(PNKP):c.636+13G>A rs745577158 0.00004
NM_007254.4(PNKP):c.636+1G>T rs1247055716 0.00004
NM_007254.4(PNKP):c.937-16C>T rs755267515 0.00004
NM_015192.4(PLCB1):c.*1965A>G rs905439149 0.00004
NM_015192.4(PLCB1):c.*2051C>T rs1024191399 0.00004
NM_015192.4(PLCB1):c.*964G>T rs886056974 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.1432G>A (p.Gly478Ser) rs749354249 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.2279G>A (p.Arg760His) rs377440334 0.00004
NM_015192.4(PLCB1):c.2318A>G (p.Tyr773Cys) rs948237591 0.00004
NM_015192.4(PLCB1):c.2564C>T (p.Ala855Val) rs201764744 0.00004
NM_015192.4(PLCB1):c.2656+7C>T rs370608944 0.00004
NM_015192.4(PLCB1):c.2853G>C (p.Lys951Asn) rs202226833 0.00004
NM_015192.4(PLCB1):c.2930+8C>T rs767172522 0.00004
NM_015192.4(PLCB1):c.2930A>G (p.Lys977Arg) rs757601519 0.00004
NM_015192.4(PLCB1):c.2947C>T (p.Pro983Ser) rs371547145 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.3112C>T (p.Leu1038Phe) rs762562905 0.00004
NM_015192.4(PLCB1):c.346C>T (p.His116Tyr) rs1018596939 0.00004
NM_015192.4(PLCB1):c.369A>G (p.Gln123=) rs755560918 0.00004
NM_015192.4(PLCB1):c.735G>A (p.Met245Ile) rs780585750 0.00004
NM_015192.4(PLCB1):c.852C>T (p.Leu284=) rs147648227 0.00004
NM_015192.4(PLCB1):c.905A>G (p.Glu302Gly) rs774418267 0.00004
NM_015192.4(PLCB1):c.919G>A (p.Val307Ile) rs373633394 0.00004
NM_015509.4(NECAP1):c.492+3G>A rs368777299 0.00004
NM_015509.4(NECAP1):c.569C>T (p.Pro190Leu) rs764080699 0.00004
NM_015509.4(NECAP1):c.95+9C>T rs199764142 0.00004
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NM_016373.4(WWOX):c.926G>A (p.Arg309His) rs370792938 0.00004
NM_020708.5(SLC12A5):c.1008C>T (p.Thr336=) rs367965141 0.00004
NM_020708.5(SLC12A5):c.1099G>A (p.Val367Met) rs778801242 0.00004
NM_020708.5(SLC12A5):c.116A>T (p.Glu39Val) rs376521903 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.1558C>T (p.Pro520Ser) rs113818080 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.2017C>G (p.Gln673Glu) rs766589514 0.00004
NM_020708.5(SLC12A5):c.2338C>T (p.Arg780Cys) rs757395459 0.00004
NM_020708.5(SLC12A5):c.2455G>A (p.Glu819Lys) rs751841577 0.00004
NM_020708.5(SLC12A5):c.2601T>C (p.Asn867=) rs374813251 0.00004
NM_020708.5(SLC12A5):c.2910+3G>A rs758619527 0.00004
NM_020708.5(SLC12A5):c.3067C>G (p.Pro1023Ala) rs146580614 0.00004
NM_020708.5(SLC12A5):c.3083G>A (p.Gly1028Asp) rs367960887 0.00004
NM_020708.5(SLC12A5):c.3126-6C>A rs372120376 0.00004
NM_020708.5(SLC12A5):c.3181G>T (p.Val1061Leu) rs763066735 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.401G>A (p.Cys134Tyr) rs377612895 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_024818.6(UBA5):c.215G>A (p.Arg72His) rs150313260 0.00004
NM_177550.5(SLC13A5):c.1006G>A (p.Gly336Ser) rs1187250417 0.00004
NM_177550.5(SLC13A5):c.1156+20C>T rs368150158 0.00004
NM_177550.5(SLC13A5):c.1437+18G>A rs371350083 0.00004
NM_177550.5(SLC13A5):c.1441C>T (p.Arg481Cys) rs555139145 0.00004
NM_177550.5(SLC13A5):c.1560C>A (p.Leu520=) rs771239934 0.00004
NM_177550.5(SLC13A5):c.1582A>G (p.Thr528Ala) rs569395560 0.00004
NM_177550.5(SLC13A5):c.1584A>G (p.Thr528=) rs764993670 0.00004
NM_177550.5(SLC13A5):c.18C>T (p.Ser6=) rs775174636 0.00004
NM_177550.5(SLC13A5):c.232-8C>T rs566063560 0.00004
NM_177550.5(SLC13A5):c.286G>A (p.Val96Met) rs770640829 0.00004
NM_177550.5(SLC13A5):c.320A>G (p.Lys107Arg) rs376995742 0.00004
NM_177550.5(SLC13A5):c.338C>T (p.Thr113Met) rs759069275 0.00004
NM_177550.5(SLC13A5):c.342C>T (p.Leu114=) rs774031315 0.00004
NM_177550.5(SLC13A5):c.391G>A (p.Val131Ile) rs140389204 0.00004
NM_177550.5(SLC13A5):c.441G>A (p.Met147Ile) rs764711084 0.00004
NM_177550.5(SLC13A5):c.489C>T (p.Ser163=) rs372231184 0.00004
NM_177550.5(SLC13A5):c.505G>A (p.Gly169Ser) rs199620361 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.864G>A (p.Gly288=) rs910523768 0.00004
NM_177550.5(SLC13A5):c.920G>A (p.Arg307Gln) rs377021126 0.00004
NM_177550.5(SLC13A5):c.945G>A (p.Ala315=) rs1057522909 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_000836.4(GRIN2D):c.2308G>A (p.Asp770Asn) rs775962298 0.00003
NM_000836.4(GRIN2D):c.3253G>A (p.Ala1085Thr) rs1971327716 0.00003
NM_001127222.2(CACNA1A):c.1191A>G (p.Ser397=) rs781149861 0.00003
NM_001127222.2(CACNA1A):c.1369A>G (p.Ile457Val) rs774203605 0.00003
NM_001127222.2(CACNA1A):c.1442G>A (p.Arg481His) rs763944721 0.00003
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys) rs375210532 0.00003
NM_001127222.2(CACNA1A):c.159G>T (p.Ala53=) rs767892925 0.00003
NM_001127222.2(CACNA1A):c.198C>T (p.Pro66=) rs774731482 0.00003
NM_001127222.2(CACNA1A):c.1990C>T (p.Leu664=) rs1246140836 0.00003
NM_001127222.2(CACNA1A):c.1998C>T (p.Gly666=) rs373695561 0.00003
NM_001127222.2(CACNA1A):c.2028G>A (p.Gly676=) rs369129616 0.00003
NM_001127222.2(CACNA1A):c.2259G>A (p.Ala753=) rs765929251 0.00003
NM_001127222.2(CACNA1A):c.2263A>G (p.Asn755Asp) rs762466161 0.00003
NM_001127222.2(CACNA1A):c.2400C>G (p.Asp800Glu) rs376074188 0.00003
NM_001127222.2(CACNA1A):c.2487G>A (p.Glu829=) rs755434242 0.00003
NM_001127222.2(CACNA1A):c.2765G>T (p.Arg922Leu) rs752824390 0.00003
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln) rs768048563 0.00003
NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val) rs762396014 0.00003
NM_001127222.2(CACNA1A):c.2895G>C (p.Gly965=) rs1057522107 0.00003
NM_001127222.2(CACNA1A):c.3017G>C (p.Arg1006Pro) rs1268938831 0.00003
NM_001127222.2(CACNA1A):c.3090-6C>T rs758040795 0.00003
NM_001127222.2(CACNA1A):c.3105C>T (p.Ser1035=) rs768168157 0.00003
NM_001127222.2(CACNA1A):c.3119C>T (p.Ser1040Leu) rs776628272 0.00003
NM_001127222.2(CACNA1A):c.3210C>T (p.Asn1070=) rs369927027 0.00003
NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His) rs201647627 0.00003
NM_001127222.2(CACNA1A):c.3372G>A (p.Thr1124=) rs770311284 0.00003
NM_001127222.2(CACNA1A):c.3483G>A (p.Arg1161=) rs772768681 0.00003
NM_001127222.2(CACNA1A):c.3490G>A (p.Asp1164Asn) rs775838621 0.00003
NM_001127222.2(CACNA1A):c.3533T>A (p.Leu1178His) rs761259850 0.00003
NM_001127222.2(CACNA1A):c.35A>G (p.Tyr12Cys) rs994265107 0.00003
NM_001127222.2(CACNA1A):c.3784G>A (p.Ala1262Thr) rs776503550 0.00003
NM_001127222.2(CACNA1A):c.3933C>G (p.Leu1311=) rs372081879 0.00003
NM_001127222.2(CACNA1A):c.4362C>T (p.Thr1454=) rs190264873 0.00003
NM_001127222.2(CACNA1A):c.4411G>A (p.Ala1471Thr) rs1187916307 0.00003
NM_001127222.2(CACNA1A):c.4470C>T (p.Tyr1490=) rs1353710115 0.00003
NM_001127222.2(CACNA1A):c.4609G>A (p.Ala1537Thr) rs773209223 0.00003
NM_001127222.2(CACNA1A):c.4626G>A (p.Pro1542=) rs768317498 0.00003
NM_001127222.2(CACNA1A):c.4951-14C>T rs1019678447 0.00003
NM_001127222.2(CACNA1A):c.5400+3G>A rs1034627495 0.00003
NM_001127222.2(CACNA1A):c.5421C>T (p.Ala1807=) rs372359926 0.00003
NM_001127222.2(CACNA1A):c.5453G>A (p.Arg1818Gln) rs745900417 0.00003
NM_001127222.2(CACNA1A):c.5493C>T (p.Tyr1831=) rs777510892 0.00003
NM_001127222.2(CACNA1A):c.549G>A (p.Ala183=) rs16004 0.00003
NM_001127222.2(CACNA1A):c.5528+1273T>C rs371000214 0.00003
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met) rs771104002 0.00003
NM_001127222.2(CACNA1A):c.5853C>T (p.Thr1951=) rs534218994 0.00003
NM_001127222.2(CACNA1A):c.5898G>A (p.Arg1966=) rs370834253 0.00003
NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys) rs1266642291 0.00003
NM_001127222.2(CACNA1A):c.5940+5G>A rs780060495 0.00003
NM_001127222.2(CACNA1A):c.6051-4G>A rs1199529097 0.00003
NM_001127222.2(CACNA1A):c.6083C>G (p.Pro2028Arg) rs370345937 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.6130A>G (p.Thr2044Ala) rs566781445 0.00003
NM_001127222.2(CACNA1A):c.6192C>T (p.Ser2064=) rs974692135 0.00003
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met) rs776203885 0.00003
NM_001127222.2(CACNA1A):c.6317G>A (p.Arg2106Gln) rs373229577 0.00003
NM_001127222.2(CACNA1A):c.6340-19G>A rs916904971 0.00003
NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln) rs779044548 0.00003
NM_001127222.2(CACNA1A):c.642C>T (p.Val214=) rs1336839525 0.00003
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp) rs756780624 0.00003
NM_001127222.2(CACNA1A):c.654G>A (p.Ser218=) rs201991581 0.00003
NM_001127222.2(CACNA1A):c.6614G>A (p.Arg2205Gln) rs756685971 0.00003
NM_001127222.2(CACNA1A):c.6624A>C (p.Arg2208=) rs556858383 0.00003
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro) rs1233829101 0.00003
NM_001127222.2(CACNA1A):c.6665C>T (p.Pro2222Leu) rs1336146310 0.00003
NM_001127222.2(CACNA1A):c.6669C>A (p.Pro2223=) rs2304094 0.00003
NM_001127222.2(CACNA1A):c.6699G>A (p.Pro2233=) rs1312330476 0.00003
NM_001127222.2(CACNA1A):c.6722G>A (p.Arg2241Gln) rs773057074 0.00003
NM_001127222.2(CACNA1A):c.6780+8C>T rs774169958 0.00003
NM_001127222.2(CACNA1A):c.6780+9G>A rs763812565 0.00003
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=) rs749587119 0.00003
NM_001127222.2(CACNA1A):c.745A>G (p.Met249Val) rs1005732031 0.00003
NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser) rs779652673 0.00003
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) rs773874436 0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001330260.2(SCN8A):c.3060G>C (p.Gln1020His) rs528718802 0.00003
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp) rs749039663 0.00003
NM_001958.5(EEF1A2):c.1029+6G>A rs370457251 0.00003
NM_001958.5(EEF1A2):c.1092C>T (p.His364=) rs1455059454 0.00003
NM_001958.5(EEF1A2):c.1269C>T (p.Arg423=) rs900643414 0.00003
NM_001958.5(EEF1A2):c.1281C>T (p.Arg427=) rs776988182 0.00003
NM_001958.5(EEF1A2):c.180G>C (p.Leu60=) rs760484799 0.00003
NM_001958.5(EEF1A2):c.288C>T (p.Arg96=) rs368043002 0.00003
NM_001958.5(EEF1A2):c.39C>T (p.Ile13=) rs762508675 0.00003
NM_001958.5(EEF1A2):c.502G>A (p.Asp168Asn) rs779246304 0.00003
NM_001958.5(EEF1A2):c.504C>T (p.Asp168=) rs757395064 0.00003
NM_001958.5(EEF1A2):c.543C>T (p.Ile181=) rs1057115359 0.00003
NM_001958.5(EEF1A2):c.621+18C>T rs555535397 0.00003
NM_001958.5(EEF1A2):c.716C>T (p.Thr239Met) rs993963334 0.00003
NM_001958.5(EEF1A2):c.717G>A (p.Thr239=) rs1355719317 0.00003
NM_001958.5(EEF1A2):c.772+12C>T rs754595612 0.00003
NM_001958.5(EEF1A2):c.921C>T (p.Asn307=) rs1057522085 0.00003
NM_001958.5(EEF1A2):c.924C>T (p.Val308=) rs779912733 0.00003
NM_001958.5(EEF1A2):c.93C>T (p.Cys31=) rs747910289 0.00003
NM_004408.4(DNM1):c.1176C>T (p.Ile392=) rs760314213 0.00003
NM_004408.4(DNM1):c.1197-16C>T rs769415906 0.00003
NM_004408.4(DNM1):c.1261C>T (p.Arg421Ter) rs200535620 0.00003
NM_004408.4(DNM1):c.1335+16G>A rs768442528 0.00003
NM_004408.4(DNM1):c.1390A>G (p.Ile464Val) rs992608425 0.00003
NM_004408.4(DNM1):c.1558-16C>T rs768903530 0.00003
NM_004408.4(DNM1):c.1568A>G (p.Lys523Arg) rs760956595 0.00003
NM_004408.4(DNM1):c.1672-15T>C rs1184633809 0.00003
NM_004408.4(DNM1):c.1722C>T (p.Asp574=) rs1404706727 0.00003
NM_004408.4(DNM1):c.1893+9C>A rs769121301 0.00003
NM_004408.4(DNM1):c.1906-20C>T rs1284100485 0.00003
NM_004408.4(DNM1):c.1917C>T (p.Thr639=) rs528464319 0.00003
NM_004408.4(DNM1):c.2322G>T (p.Ser774=) rs566718787 0.00003
NM_004408.4(DNM1):c.2427G>T (p.Leu809=) rs897409469 0.00003
NM_004408.4(DNM1):c.387G>A (p.Val129=) rs758325864 0.00003
NM_004408.4(DNM1):c.678C>G (p.Pro226=) rs150094408 0.00003
NM_004408.4(DNM1):c.812G>A (p.Arg271His) rs201656136 0.00003
NM_004974.4(KCNA2):c.1215G>A (p.Pro405=) rs368489072 0.00003
NM_004974.4(KCNA2):c.363A>G (p.Glu121=) rs747745503 0.00003
NM_004975.4(KCNB1):c.168G>T (p.Arg56=) rs780529809 0.00003
NM_004975.4(KCNB1):c.19A>G (p.Lys7Glu) rs936778119 0.00003
NM_004975.4(KCNB1):c.2116G>A (p.Ala706Thr) rs779750227 0.00003
NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met) rs565025643 0.00003
NM_004975.4(KCNB1):c.598G>A (p.Val200Ile) rs748573940 0.00003
NM_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.1042C>T (p.Arg348Cys) rs530663093 0.00003
NM_007254.4(PNKP):c.1191C>T (p.Asp397=) rs376011384 0.00003
NM_007254.4(PNKP):c.1285G>A (p.Ala429Thr) rs148386689 0.00003
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) rs747244348 0.00003
NM_007254.4(PNKP):c.1308G>C (p.Gln436His) rs780067167 0.00003
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007 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.1483T>C (p.Phe495Leu) rs1165689250 0.00003
NM_007254.4(PNKP):c.1513C>T (p.Leu505=) rs201661864 0.00003
NM_007254.4(PNKP):c.1517G>A (p.Trp506Ter) rs778043139 0.00003
NM_007254.4(PNKP):c.1559A>G (p.Glu520Gly) rs886043128 0.00003
NM_007254.4(PNKP):c.20C>T (p.Pro7Leu) rs776442624 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.611G>A (p.Arg204Gln) rs751820948 0.00003
NM_007254.4(PNKP):c.736C>T (p.Pro246Ser) rs147553148 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_007254.4(PNKP):c.961T>C (p.Phe321Leu) rs1210892846 0.00003
NM_007254.4(PNKP):c.979T>C (p.Phe327Leu) rs912223009 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.1317G>C (p.Glu439Asp) rs746127346 0.00003
NM_015192.4(PLCB1):c.1336-5A>G rs752723995 0.00003
NM_015192.4(PLCB1):c.1581+4G>A rs761829659 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.2559T>G (p.Ser853Arg) rs753642857 0.00003
NM_015192.4(PLCB1):c.2742G>A (p.Lys914=) rs776762609 0.00003
NM_015192.4(PLCB1):c.2908G>A (p.Ala970Thr) rs763567304 0.00003
NM_015192.4(PLCB1):c.2930+15T>C rs749168952 0.00003
NM_015192.4(PLCB1):c.301C>T (p.Arg101Cys) rs868772684 0.00003
NM_015192.4(PLCB1):c.3373G>A (p.Val1125Ile) rs773333771 0.00003
NM_015192.4(PLCB1):c.345C>T (p.Ser115=) rs756143193 0.00003
NM_015192.4(PLCB1):c.499G>A (p.Gly167Arg) rs749130736 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.890G>A (p.Arg297His) rs775904184 0.00003
NM_015192.4(PLCB1):c.913G>A (p.Gly305Arg) rs370525961 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_015509.4(NECAP1):c.136C>T (p.Arg46Cys) rs202044480 0.00003
NM_015509.4(NECAP1):c.161A>C (p.Lys54Thr) rs755337455 0.00003
NM_015509.4(NECAP1):c.436C>T (p.Arg146Cys) rs1016693316 0.00003
NM_015509.4(NECAP1):c.492+7A>G rs1449501710 0.00003
NM_015509.4(NECAP1):c.562C>A (p.Pro188Thr) rs775614356 0.00003
NM_015509.4(NECAP1):c.804G>A (p.Gln268=) rs112884329 0.00003
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr) rs200699154 0.00003
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter) rs587777248 0.00003
NM_016373.4(WWOX):c.746G>A (p.Arg249His) rs756703833 0.00003
NM_016373.4(WWOX):c.953C>T (p.Ser318Leu) rs770023814 0.00003
NM_020708.5(SLC12A5):c.1337-8T>C rs374330170 0.00003
NM_020708.5(SLC12A5):c.1955C>T (p.Ala652Val) rs1555865828 0.00003
NM_020708.5(SLC12A5):c.1961G>A (p.Arg654His) rs760824180 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.2854C>T (p.Arg952Cys) rs747552467 0.00003
NM_020708.5(SLC12A5):c.2860A>G (p.Asn954Asp) rs781354583 0.00003
NM_020708.5(SLC12A5):c.2862C>T (p.Asn954=) rs754601939 0.00003
NM_020708.5(SLC12A5):c.287G>A (p.Arg96His) rs756873079 0.00003
NM_020708.5(SLC12A5):c.2984G>C (p.Gly995Ala) rs376925159 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.851T>G (p.Phe284Cys) rs1213597825 0.00003
NM_020708.5(SLC12A5):c.855-19C>T rs372069124 0.00003
NM_021072.4(HCN1):c.1777C>G (p.Arg593Gly) rs989268235 0.00003
NM_177550.5(SLC13A5):c.1062C>T (p.Val354=) rs908065981 0.00003
NM_177550.5(SLC13A5):c.1172T>C (p.Phe391Ser) rs777258503 0.00003
NM_177550.5(SLC13A5):c.1206C>T (p.Thr402=) rs143869456 0.00003
NM_177550.5(SLC13A5):c.1281G>A (p.Ser427=) rs377534564 0.00003
NM_177550.5(SLC13A5):c.1290C>T (p.Ser430=) rs756166033 0.00003
NM_177550.5(SLC13A5):c.1334C>T (p.Pro445Leu) rs558866003 0.00003
NM_177550.5(SLC13A5):c.1450G>A (p.Gly484Ser) rs779942374 0.00003
NM_177550.5(SLC13A5):c.1485C>G (p.Thr495=) rs907914369 0.00003
NM_177550.5(SLC13A5):c.1645C>T (p.Arg549Trp) rs770090939 0.00003
NM_177550.5(SLC13A5):c.207C>T (p.Leu69=) rs560691044 0.00003
NM_177550.5(SLC13A5):c.368+9G>A rs764226590 0.00003
NM_177550.5(SLC13A5):c.499G>A (p.Glu167Lys) rs373010067 0.00003
NM_177550.5(SLC13A5):c.602G>A (p.Arg201Gln) rs200275193 0.00003
NM_177550.5(SLC13A5):c.654C>T (p.Ile218=) rs547998800 0.00003
NM_177550.5(SLC13A5):c.877A>G (p.Lys293Glu) rs759034052 0.00003
NM_177550.5(SLC13A5):c.906G>T (p.Leu302=) rs1334051824 0.00003
NM_177550.5(SLC13A5):c.998G>A (p.Arg333Gln) rs1379095103 0.00003
NM_000836.4(GRIN2D):c.3076G>A (p.Gly1026Ser) rs900615101 0.00002
NM_001127221.2(CACNA1A):c.5533G>A (p.Gly1845Ser) rs141565870 0.00002
NM_001127222.2(CACNA1A):c.1083-11T>C rs777235021 0.00002
NM_001127222.2(CACNA1A):c.1142G>A (p.Arg381Gln) rs772354342 0.00002
NM_001127222.2(CACNA1A):c.1246C>G (p.Pro416Ala) rs371138043 0.00002
NM_001127222.2(CACNA1A):c.1248C>G (p.Pro416=) rs1158411031 0.00002
NM_001127222.2(CACNA1A):c.1256-9T>C rs758786727 0.00002
NM_001127222.2(CACNA1A):c.1356C>T (p.Phe452=) rs41276888 0.00002
NM_001127222.2(CACNA1A):c.1394C>T (p.Ser465Leu) rs544363291 0.00002
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys) rs1189054127 0.00002
NM_001127222.2(CACNA1A):c.1513A>G (p.Ile505Val) rs750557478 0.00002
NM_001127222.2(CACNA1A):c.1556-17C>T rs755361841 0.00002
NM_001127222.2(CACNA1A):c.1716T>C (p.Pro572=) rs923412087 0.00002
NM_001127222.2(CACNA1A):c.1737C>T (p.Ser579=) rs371161901 0.00002
NM_001127222.2(CACNA1A):c.1881C>T (p.Phe627=) rs371268760 0.00002
NM_001127222.2(CACNA1A):c.2256C>T (p.Ser752=) rs764816582 0.00002
NM_001127222.2(CACNA1A):c.2280-16G>A rs759745350 0.00002
NM_001127222.2(CACNA1A):c.2377C>T (p.Leu793=) rs759875039 0.00002
NM_001127222.2(CACNA1A):c.2434C>T (p.Arg812Trp) rs369084322 0.00002
NM_001127222.2(CACNA1A):c.2483A>G (p.Gln828Arg) rs753196787 0.00002
NM_001127222.2(CACNA1A):c.2532C>T (p.Thr844=) rs761929729 0.00002
NM_001127222.2(CACNA1A):c.2729T>G (p.Leu910Arg) rs953766694 0.00002
NM_001127222.2(CACNA1A):c.2754C>T (p.Gly918=) rs371757002 0.00002
NM_001127222.2(CACNA1A):c.285C>T (p.Thr95=) rs758206206 0.00002
NM_001127222.2(CACNA1A):c.2889G>A (p.Arg963=) rs1390620211 0.00002
NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser) rs1383144531 0.00002
NM_001127222.2(CACNA1A):c.2963G>A (p.Gly988Asp) rs1271411894 0.00002
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val) rs952757731 0.00002
NM_001127222.2(CACNA1A):c.3045G>A (p.Gly1015=) rs1400869068 0.00002
NM_001127222.2(CACNA1A):c.3078T>A (p.His1026Gln) rs1202322408 0.00002
NM_001127222.2(CACNA1A):c.3089+16C>T rs897924558 0.00002
NM_001127222.2(CACNA1A):c.3142C>T (p.Arg1048Trp) rs753402026 0.00002
NM_001127222.2(CACNA1A):c.3178C>T (p.Pro1060Ser) rs969592968 0.00002
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=) rs373678395 0.00002
NM_001127222.2(CACNA1A):c.3264C>T (p.Ala1088=) rs916089734 0.00002
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser) rs762006290 0.00002
NM_001127222.2(CACNA1A):c.3420C>T (p.Pro1140=) rs542849275 0.00002
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys) rs780535727 0.00002
NM_001127222.2(CACNA1A):c.3426T>C (p.Asn1142=) rs1326349920 0.00002
NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile) rs376365775 0.00002
NM_001127222.2(CACNA1A):c.3526C>T (p.Pro1176Ser) rs1458640910 0.00002
NM_001127222.2(CACNA1A):c.3786C>T (p.Ala1262=) rs572832442 0.00002
NM_001127222.2(CACNA1A):c.3883-20C>T rs769443982 0.00002
NM_001127222.2(CACNA1A):c.4089+3G>A rs781595676 0.00002
NM_001127222.2(CACNA1A):c.4173C>T (p.Ala1391=) rs371589326 0.00002
NM_001127222.2(CACNA1A):c.4251-19T>A rs763689584 0.00002
NM_001127222.2(CACNA1A):c.4251-4G>A rs201785699 0.00002
NM_001127222.2(CACNA1A):c.4440C>T (p.Pro1480=) rs756711282 0.00002
NM_001127222.2(CACNA1A):c.4530C>T (p.Ile1510=) rs371060261 0.00002
NM_001127222.2(CACNA1A):c.4591-4G>A rs370348070 0.00002
NM_001127222.2(CACNA1A):c.4608C>T (p.Phe1536=) rs760679421 0.00002
NM_001127222.2(CACNA1A):c.4617C>T (p.Ser1539=) rs1051975 0.00002
NM_001127222.2(CACNA1A):c.4662C>G (p.Phe1554Leu) rs182161386 0.00002
NM_001127222.2(CACNA1A):c.4695G>A (p.Pro1565=) rs753924411 0.00002
NM_001127222.2(CACNA1A):c.4772T>C (p.Val1591Ala) rs770150171 0.00002
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=) rs758409135 0.00002
NM_001127222.2(CACNA1A):c.5158G>A (p.Val1720Met) rs537982877 0.00002
NM_001127222.2(CACNA1A):c.5166C>T (p.Asp1722=) rs200501726 0.00002
NM_001127222.2(CACNA1A):c.539+12G>A rs148855231 0.00002
NM_001127222.2(CACNA1A):c.540-20T>C rs756413933 0.00002
NM_001127222.2(CACNA1A):c.5508C>T (p.Ala1836=) rs750338421 0.00002
NM_001127222.2(CACNA1A):c.5521G>A (p.Ala1841Thr) rs753229469 0.00002
NM_001127222.2(CACNA1A):c.5731+14del rs762645821 0.00002
NM_001127222.2(CACNA1A):c.5731+20G>A rs774752183 0.00002
NM_001127222.2(CACNA1A):c.5732-20T>C rs1425639727 0.00002
NM_001127222.2(CACNA1A):c.5758G>A (p.Ala1920Thr) rs766012999 0.00002
NM_001127222.2(CACNA1A):c.5839+15C>T rs756095565 0.00002
NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=) rs368203745 0.00002
NM_001127222.2(CACNA1A):c.5979G>A (p.Pro1993=) rs540390772 0.00002
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala) rs141963371 0.00002
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr) rs374063403 0.00002
NM_001127222.2(CACNA1A):c.6101G>A (p.Arg2034His) rs369555957 0.00002
NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu) rs539347883 0.00002
NM_001127222.2(CACNA1A):c.6220G>A (p.Gly2074Ser) rs376910068 0.00002
NM_001127222.2(CACNA1A):c.6229G>A (p.Asp2077Asn) rs757223826 0.00002
NM_001127222.2(CACNA1A):c.6234C>T (p.Ser2078=) rs758320697 0.00002
NM_001127222.2(CACNA1A):c.632G>A (p.Ser211Asn) rs1085307866 0.00002
NM_001127222.2(CACNA1A):c.6331A>G (p.Asn2111Asp) rs1162464868 0.00002
NM_001127222.2(CACNA1A):c.6340-7C>A rs765609971 0.00002
NM_001127222.2(CACNA1A):c.6346T>G (p.Ser2116Ala) rs576057388 0.00002
NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro) rs1220294928 0.00002
NM_001127222.2(CACNA1A):c.6408C>T (p.Asp2136=) rs779701046 0.00002
NM_001127222.2(CACNA1A):c.6451C>T (p.His2151Tyr) rs1005361810 0.00002
NM_001127222.2(CACNA1A):c.6460C>T (p.Arg2154Trp) rs1374160355 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His) rs755749925 0.00002
NM_001127222.2(CACNA1A):c.6472C>T (p.Arg2158Cys) rs774289573 0.00002
NM_001127222.2(CACNA1A):c.6482G>A (p.Arg2161His) rs769503871 0.00002
NM_001127222.2(CACNA1A):c.6506G>A (p.Arg2169His) rs1417890059 0.00002
NM_001127222.2(CACNA1A):c.6513C>T (p.Thr2171=) rs756597852 0.00002
NM_001127222.2(CACNA1A):c.6526+10C>A rs1425384815 0.00002
NM_001127222.2(CACNA1A):c.6526+7A>G rs972428713 0.00002
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala) rs1028538547 0.00002
NM_001127222.2(CACNA1A):c.6610G>A (p.Asp2204Asn) rs747673128 0.00002
NM_001127222.2(CACNA1A):c.6646C>T (p.His2216Tyr) rs760470308 0.00002
NM_001127222.2(CACNA1A):c.6653A>C (p.His2218Pro) rs1353109044 0.00002
NM_001127222.2(CACNA1A):c.6662C>T (p.Pro2221Leu) rs778551911 0.00002
NM_001127222.2(CACNA1A):c.6737C>T (p.Ser2246Phe) rs768312851 0.00002
NM_001127222.2(CACNA1A):c.6781-6G>A rs757167417 0.00002
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys) rs1057519629 0.00002
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr) rs745535369 0.00002
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg) rs749994791 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234 0.00002
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys) rs761386688 0.00002
NM_001958.5(EEF1A2):c.159C>T (p.Ser53=) rs766656421 0.00002
NM_001958.5(EEF1A2):c.477G>A (p.Glu159=) rs768282017 0.00002
NM_001958.5(EEF1A2):c.582C>T (p.Ser194=) rs759785829 0.00002
NM_001958.5(EEF1A2):c.591C>T (p.His197=) rs544191007 0.00002
NM_001958.5(EEF1A2):c.72G>A (p.Thr24=) rs746094472 0.00002
NM_001958.5(EEF1A2):c.773-15C>T rs780584279 0.00002
NM_001958.5(EEF1A2):c.773-7T>A rs766099866 0.00002
NM_001958.5(EEF1A2):c.783G>A (p.Thr261=) rs370695849 0.00002
NM_004408.4(DNM1):c.1161G>A (p.Glu387=) rs998519750 0.00002
NM_004408.4(DNM1):c.1197-11C>T rs764285452 0.00002
NM_004408.4(DNM1):c.1197-15G>A rs534677463 0.00002
NM_004408.4(DNM1):c.1380G>C (p.Val460=) rs749564973 0.00002
NM_004408.4(DNM1):c.1401C>T (p.Arg467=) rs527820256 0.00002
NM_004408.4(DNM1):c.141G>T (p.Val47=) rs1269297218 0.00002
NM_004408.4(DNM1):c.1423-14A>G rs765225886 0.00002
NM_004408.4(DNM1):c.1558-17G>T rs749222845 0.00002
NM_004408.4(DNM1):c.161+11C>G rs1483670500 0.00002
NM_004408.4(DNM1):c.162-17C>T rs1057524327 0.00002
NM_004408.4(DNM1):c.1662G>A (p.Lys554=) rs371589347 0.00002
NM_004408.4(DNM1):c.1755C>T (p.Ile585=) rs759079310 0.00002
NM_004408.4(DNM1):c.1860C>T (p.Phe620=) rs1050799692 0.00002
NM_004408.4(DNM1):c.1886G>A (p.Arg629His) rs778378392 0.00002
NM_004408.4(DNM1):c.1933G>A (p.Asp645Asn) rs754501788 0.00002
NM_004408.4(DNM1):c.2133G>A (p.Gln711=) rs1277551348 0.00002
NM_004408.4(DNM1):c.2586C>T (p.Phe862=) rs560349998 0.00002
NM_004408.4(DNM1):c.261G>A (p.Lys87=) rs377178808 0.00002
NM_004408.4(DNM1):c.293G>A (p.Arg98His) rs748195071 0.00002
NM_004408.4(DNM1):c.689-8G>T rs760856978 0.00002
NM_004408.4(DNM1):c.702G>A (p.Val234=) rs754094661 0.00002
NM_004408.4(DNM1):c.774C>G (p.Phe258Leu) rs146211149 0.00002
NM_004408.4(DNM1):c.850-17C>G rs764505046 0.00002
NM_004974.4(KCNA2):c.1053C>T (p.Ala351=) rs748008112 0.00002
NM_004974.4(KCNA2):c.1375A>G (p.Met459Val) rs371146552 0.00002
NM_004974.4(KCNA2):c.1450T>C (p.Leu484=) rs139459165 0.00002
NM_004974.4(KCNA2):c.218G>A (p.Arg73Gln) rs373042266 0.00002
NM_004974.4(KCNA2):c.544C>A (p.Leu182Met) rs367662144 0.00002
NM_004974.4(KCNA2):c.590G>A (p.Gly197Asp) rs752985457 0.00002
NM_004974.4(KCNA2):c.68A>G (p.Tyr23Cys) rs753829876 0.00002
NM_004974.4(KCNA2):c.754A>G (p.Thr252Ala) rs772053786 0.00002
NM_004974.4(KCNA2):c.841G>A (p.Ala281Thr) rs753926939 0.00002
NM_004975.4(KCNB1):c.1167G>A (p.Leu389=) rs771768169 0.00002
NM_004975.4(KCNB1):c.1207C>T (p.Leu403=) rs749215518 0.00002
NM_004975.4(KCNB1):c.1335C>T (p.Ile445=) rs368667514 0.00002
NM_004975.4(KCNB1):c.1387A>G (p.Ile463Val) rs777560545 0.00002
NM_004975.4(KCNB1):c.1494C>A (p.Thr498=) rs1483168827 0.00002
NM_004975.4(KCNB1):c.1595T>C (p.Met532Thr) rs781098579 0.00002
NM_004975.4(KCNB1):c.1640C>T (p.Thr547Ile) rs896349825 0.00002
NM_004975.4(KCNB1):c.1724G>A (p.Arg575His) rs544069848 0.00002
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln) rs753575587 0.00002
NM_004975.4(KCNB1):c.2058C>T (p.Pro686=) rs908785527 0.00002
NM_004975.4(KCNB1):c.2135C>T (p.Thr712Met) rs775588653 0.00002
NM_004975.4(KCNB1):c.2152G>A (p.Val718Met) rs774976039 0.00002
NM_004975.4(KCNB1):c.2207G>A (p.Arg736Gln) rs151175979 0.00002
NM_004975.4(KCNB1):c.2225C>A (p.Thr742Lys) rs1218107028 0.00002
NM_004975.4(KCNB1):c.2248G>A (p.Ala750Thr) rs758332295 0.00002
NM_004975.4(KCNB1):c.2271C>T (p.Asp757=) rs190726852 0.00002
NM_004975.4(KCNB1):c.2351C>T (p.Pro784Leu) rs766596568 0.00002
NM_004975.4(KCNB1):c.2478T>C (p.Ser826=) rs554768897 0.00002
NM_004975.4(KCNB1):c.2516C>T (p.Pro839Leu) rs761070687 0.00002
NM_004975.4(KCNB1):c.2537G>T (p.Gly846Val) rs1386449842 0.00002
NM_004975.4(KCNB1):c.513G>A (p.Lys171=) rs762797906 0.00002
NM_004975.4(KCNB1):c.567+11G>C rs772220866 0.00002
NM_004975.4(KCNB1):c.568-20C>T rs934317402 0.00002
NM_004975.4(KCNB1):c.568-7C>T rs958924629 0.00002
NM_004975.4(KCNB1):c.568-9T>C rs771401083 0.00002
NM_004975.4(KCNB1):c.693C>T (p.His231=) rs765195036 0.00002
NM_004975.4(KCNB1):c.96G>A (p.Arg32=) rs781213174 0.00002
NM_004975.4(KCNB1):c.9G>A (p.Ala3=) rs768300586 0.00002
NM_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.1120C>T (p.Pro374Ser) rs760583725 0.00002
NM_007254.4(PNKP):c.1121C>T (p.Pro374Leu) rs1391995905 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.1274A>G (p.Asn425Ser) rs541840060 0.00002
NM_007254.4(PNKP):c.1286C>T (p.Ala429Val) rs769707108 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.1370C>T (p.Ala457Val) rs776349198 0.00002
NM_007254.4(PNKP):c.1386+43G>A rs775229994 0.00002
NM_007254.4(PNKP):c.1387-2A>G rs766419491 0.00002
NM_007254.4(PNKP):c.1471C>T (p.Leu491=) rs779306097 0.00002
NM_007254.4(PNKP):c.1511G>A (p.Arg504Gln) rs745651405 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.248T>C (p.Leu83Ser) rs756169949 0.00002
NM_007254.4(PNKP):c.267G>A (p.Val89=) rs531640505 0.00002
NM_007254.4(PNKP):c.314G>A (p.Arg105His) rs535302504 0.00002
NM_007254.4(PNKP):c.318G>A (p.Trp106Ter) rs2074810148 0.00002
NM_007254.4(PNKP):c.344A>G (p.Gln115Arg) rs200055661 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.811G>A (p.Glu271Lys) rs1028247558 0.00002
NM_007254.4(PNKP):c.816G>A (p.Gln272=) rs534099292 0.00002
NM_007254.4(PNKP):c.865+1G>A rs762003634 0.00002
NM_007254.4(PNKP):c.936+6G>A rs751664776 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.*2019G>A rs1009626644 0.00002
NM_015192.4(PLCB1):c.*2717G>A rs763021921 0.00002
NM_015192.4(PLCB1):c.-1G>C rs764523154 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.1415A>C (p.Lys472Thr) rs368448785 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.1551T>G (p.Asp517Glu) rs150189968 0.00002
NM_015192.4(PLCB1):c.1582-8A>G rs775526031 0.00002
NM_015192.4(PLCB1):c.2308+14G>C rs768572485 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.2829C>A (p.Asp943Glu) rs745349550 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.2983G>A (p.Ala995Thr) rs780463144 0.00002
NM_015192.4(PLCB1):c.3059G>A (p.Arg1020Gln) rs758283980 0.00002
NM_015192.4(PLCB1):c.309C>A (p.Ile103=) rs770498816 0.00002
NM_015192.4(PLCB1):c.3136G>A (p.Ala1046Thr) rs778097231 0.00002
NM_015192.4(PLCB1):c.3326A>G (p.Tyr1109Cys) rs747642151 0.00002
NM_015192.4(PLCB1):c.3475C>G (p.Leu1159Val) rs1987996323 0.00002
NM_015192.4(PLCB1):c.3477C>T (p.Leu1159=) rs774970817 0.00002
NM_015192.4(PLCB1):c.3493G>A (p.Val1165Met) rs772786871 0.00002
NM_015192.4(PLCB1):c.3572G>C (p.Gly1191Ala) rs772366922 0.00002
NM_015192.4(PLCB1):c.464C>T (p.Ala155Val) rs148738915 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.889C>T (p.Arg297Cys) rs149661663 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_015509.4(NECAP1):c.137G>A (p.Arg46His) rs751979807 0.00002
NM_015509.4(NECAP1):c.180C>T (p.Leu60=) rs374460096 0.00002
NM_015509.4(NECAP1):c.196+11C>T rs375832217 0.00002
NM_015509.4(NECAP1):c.383+10G>C rs1465757811 0.00002
NM_015509.4(NECAP1):c.437G>A (p.Arg146His) rs769210779 0.00002
NM_015509.4(NECAP1):c.647C>T (p.Pro216Leu) rs748757462 0.00002
NM_015509.4(NECAP1):c.723A>G (p.Ala241=) rs1311591214 0.00002
NM_016373.4(WWOX):c.517-108243C>T rs551189075 0.00002
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) rs756762196 0.00002
NM_020708.5(SLC12A5):c.1005C>T (p.Phe335=) rs755725158 0.00002
NM_020708.5(SLC12A5):c.1348G>A (p.Val450Ile) rs745565201 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.2036G>A (p.Arg679His) rs763612651 0.00002
NM_020708.5(SLC12A5):c.2259C>T (p.Gly753=) rs764791575 0.00002
NM_020708.5(SLC12A5):c.2260G>A (p.Val754Met) rs551572064 0.00002
NM_020708.5(SLC12A5):c.2300A>G (p.Gln767Arg) rs995997850 0.00002
NM_020708.5(SLC12A5):c.2371T>C (p.Phe791Leu) rs776507788 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.272C>T (p.Pro91Leu) rs1436913904 0.00002
NM_020708.5(SLC12A5):c.2841C>T (p.Ala947=) rs574591288 0.00002
NM_020708.5(SLC12A5):c.2876C>T (p.Thr959Met) rs759314815 0.00002
NM_020708.5(SLC12A5):c.2893G>C (p.Glu965Gln) rs776262547 0.00002
NM_020708.5(SLC12A5):c.2935G>A (p.Ala979Thr) rs751920054 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.30C>A (p.Asp10Glu) rs933771451 0.00002
NM_020708.5(SLC12A5):c.3110+18A>C rs202018911 0.00002
NM_020708.5(SLC12A5):c.3142C>T (p.Arg1048Trp) rs369042030 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_020708.5(SLC12A5):c.772G>A (p.Val258Ile) rs915523015 0.00002
NM_020708.5(SLC12A5):c.955G>A (p.Gly319Ser) rs765018314 0.00002
NM_020708.5(SLC12A5):c.958C>T (p.Leu320Phe) rs916790849 0.00002
NM_024818.6(UBA5):c.460G>A (p.Val154Met) rs761169562 0.00002
NM_177550.5(SLC13A5):c.1037G>T (p.Trp346Leu) rs746999375 0.00002
NM_177550.5(SLC13A5):c.1055+15C>A rs764186836 0.00002
NM_177550.5(SLC13A5):c.1127A>G (p.Lys376Arg) rs370020005 0.00002
NM_177550.5(SLC13A5):c.1179C>T (p.Pro393=) rs755751249 0.00002
NM_177550.5(SLC13A5):c.120C>T (p.Tyr40=) rs529673803 0.00002
NM_177550.5(SLC13A5):c.1275+7T>C rs537439213 0.00002
NM_177550.5(SLC13A5):c.1330C>T (p.Pro444Ser) rs765709852 0.00002
NM_177550.5(SLC13A5):c.1420C>T (p.Pro474Ser) rs777285678 0.00002
NM_177550.5(SLC13A5):c.1438-20G>A rs1329698702 0.00002
NM_177550.5(SLC13A5):c.1438-4G>A rs901014442 0.00002
NM_177550.5(SLC13A5):c.1447A>G (p.Ile483Val) rs143719876 0.00002
NM_177550.5(SLC13A5):c.1591A>G (p.Ile531Val) rs753629596 0.00002
NM_177550.5(SLC13A5):c.1628C>A (p.Ala543Asp) rs202208840 0.00002
NM_177550.5(SLC13A5):c.1673C>T (p.Pro558Leu) rs769020153 0.00002
NM_177550.5(SLC13A5):c.227G>A (p.Arg76Lys) rs778196660 0.00002
NM_177550.5(SLC13A5):c.232-15C>T rs199904860 0.00002
NM_177550.5(SLC13A5):c.313C>T (p.Leu105=) rs765334582 0.00002
NM_177550.5(SLC13A5):c.368+8C>T rs754086132 0.00002
NM_177550.5(SLC13A5):c.368G>A (p.Arg123Gln) rs530676026 0.00002
NM_177550.5(SLC13A5):c.390C>T (p.Gly130=) rs371499002 0.00002
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) rs1202091819 0.00002
NM_177550.5(SLC13A5):c.446T>C (p.Val149Ala) rs761377416 0.00002
NM_177550.5(SLC13A5):c.471G>A (p.Gln157=) rs367895721 0.00002
NM_177550.5(SLC13A5):c.497C>A (p.Thr166Asn) rs758852137 0.00002
NM_177550.5(SLC13A5):c.675C>T (p.Thr225=) rs766223341 0.00002
NM_177550.5(SLC13A5):c.744G>C (p.Val248=) rs755035537 0.00002
NM_177550.5(SLC13A5):c.771C>T (p.Ala257=) rs1042746956 0.00002
NM_177550.5(SLC13A5):c.802G>A (p.Ala268Thr) rs777184227 0.00002
NM_000812.4(GABRB1):c.1142C>T (p.Ser381Leu) rs539587921 0.00001
NM_000836.4(GRIN2D):c.1085+13G>A rs956727278 0.00001
NM_000836.4(GRIN2D):c.1558G>A (p.Val520Ile) rs761726968 0.00001
NM_000836.4(GRIN2D):c.1855G>A (p.Gly619Ser) rs141530315 0.00001
NM_000836.4(GRIN2D):c.3250G>A (p.Gly1084Ser) rs1340140743 0.00001
NM_000836.4(GRIN2D):c.344T>C (p.Val115Ala) rs757989014 0.00001
NM_000836.4(GRIN2D):c.3523C>G (p.Pro1175Ala) rs1971333907 0.00001
NM_000836.4(GRIN2D):c.838G>A (p.Ala280Thr) rs759019629 0.00001
NM_001127221.2(CACNA1A):c.5532C>T (p.Cys1844=) rs765557914 0.00001
NM_001127222.2(CACNA1A):c.1071T>C (p.Gly357=) rs1240852774 0.00001
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp) rs773593740 0.00001
NM_001127222.2(CACNA1A):c.1143G>A (p.Arg381=) rs762033223 0.00001
NM_001127222.2(CACNA1A):c.1169A>G (p.Asn390Ser) rs1064795477 0.00001
NM_001127222.2(CACNA1A):c.1171G>A (p.Gly391Arg) rs749309558 0.00001
NM_001127222.2(CACNA1A):c.117C>T (p.Gly39=) rs374304094 0.00001
NM_001127222.2(CACNA1A):c.1189T>G (p.Ser397Ala) rs745753973 0.00001
NM_001127222.2(CACNA1A):c.1209C>T (p.Ile403=) rs559232599 0.00001
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr) rs121908245 0.00001
NM_001127222.2(CACNA1A):c.1230C>T (p.Asp410=) rs751952553 0.00001
NM_001127222.2(CACNA1A):c.1231G>A (p.Gly411Arg) rs1448345243 0.00001
NM_001127222.2(CACNA1A):c.1256-18A>G rs1369047772 0.00001
NM_001127222.2(CACNA1A):c.1261C>T (p.Arg421Trp) rs1208991974 0.00001
NM_001127222.2(CACNA1A):c.1291G>A (p.Asp431Asn) rs1600346973 0.00001
NM_001127222.2(CACNA1A):c.1303C>T (p.Pro435Ser) rs1426869372 0.00001
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr) rs201398669 0.00001
NM_001127222.2(CACNA1A):c.1327G>A (p.Ala443Thr) rs866479368 0.00001
NM_001127222.2(CACNA1A):c.1333A>G (p.Ile445Val) rs1188726884 0.00001
NM_001127222.2(CACNA1A):c.1346-7C>A rs754052378 0.00001
NM_001127222.2(CACNA1A):c.135A>G (p.Gln45=) rs764813421 0.00001
NM_001127222.2(CACNA1A):c.1377T>G (p.Ser459Arg) rs769335170 0.00001
NM_001127222.2(CACNA1A):c.1389G>A (p.Glu463=) rs886043657 0.00001
NM_001127222.2(CACNA1A):c.1393T>G (p.Ser465Ala) rs1195950626 0.00001
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His) rs755107633 0.00001
NM_001127222.2(CACNA1A):c.1439G>A (p.Arg480His) rs761827501 0.00001
NM_001127222.2(CACNA1A):c.1441C>T (p.Arg481Cys) rs377011125 0.00001
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240 0.00001
NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn) rs185034915 0.00001
NM_001127222.2(CACNA1A):c.1556-12T>C rs749749321 0.00001
NM_001127222.2(CACNA1A):c.1559A>G (p.Tyr520Cys) rs886039322 0.00001
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys) rs1064794263 0.00001
NM_001127222.2(CACNA1A):c.1611G>T (p.Met537Ile) rs752572390 0.00001
NM_001127222.2(CACNA1A):c.162G>A (p.Gln54=) rs762262807 0.00001
NM_001127222.2(CACNA1A):c.1644T>C (p.Ser548=) rs772855559 0.00001
NM_001127222.2(CACNA1A):c.1647C>T (p.Ser549=) rs866879440 0.00001
NM_001127222.2(CACNA1A):c.1668+10C>T rs545368463 0.00001
NM_001127222.2(CACNA1A):c.1668+11T>C rs200980685 0.00001
NM_001127222.2(CACNA1A):c.1668+19A>G rs771087905 0.00001
NM_001127222.2(CACNA1A):c.1669-17C>T rs755846938 0.00001
NM_001127222.2(CACNA1A):c.1676T>C (p.Ile559Thr) rs767207007 0.00001
NM_001127222.2(CACNA1A):c.1692G>A (p.Glu564=) rs371827685 0.00001
NM_001127222.2(CACNA1A):c.1782-5G>A rs1085307739 0.00001
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=) rs756972061 0.00001
NM_001127222.2(CACNA1A):c.1804C>T (p.Leu602=) rs16014 0.00001
NM_001127222.2(CACNA1A):c.1809C>T (p.Val603=) rs560241650 0.00001
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile) rs756562814 0.00001
NM_001127222.2(CACNA1A):c.1848G>A (p.Leu616=) rs1164864162 0.00001
NM_001127222.2(CACNA1A):c.1875C>T (p.Val625=) rs774629539 0.00001
NM_001127222.2(CACNA1A):c.1882G>A (p.Ala628Thr) rs577006493 0.00001
NM_001127222.2(CACNA1A):c.1899A>G (p.Gln633=) rs769887736 0.00001
NM_001127222.2(CACNA1A):c.1906G>A (p.Gly636Ser) rs943419160 0.00001
NM_001127222.2(CACNA1A):c.1913+8C>T rs770833278 0.00001
NM_001127222.2(CACNA1A):c.1950C>T (p.Phe650=) rs747730451 0.00001
NM_001127222.2(CACNA1A):c.1977G>A (p.Thr659=) rs371952989 0.00001
NM_001127222.2(CACNA1A):c.1989C>T (p.Ile663=) rs764413479 0.00001
NM_001127222.2(CACNA1A):c.2022C>T (p.Tyr674=) rs940460024 0.00001
NM_001127222.2(CACNA1A):c.2025C>T (p.Asp675=) rs1170735669 0.00001
NM_001127222.2(CACNA1A):c.2043G>A (p.Gly681=) rs750324942 0.00001
NM_001127222.2(CACNA1A):c.2052G>A (p.Gln684=) rs774083779 0.00001
NM_001127222.2(CACNA1A):c.2055C>T (p.Gly685=) rs768332997 0.00001
NM_001127222.2(CACNA1A):c.2062G>T (p.Val688Leu) rs762530372 0.00001
NM_001127222.2(CACNA1A):c.2072T>C (p.Ile691Thr) rs775081414 0.00001
NM_001127222.2(CACNA1A):c.2105-2A>G rs906086634 0.00001
NM_001127222.2(CACNA1A):c.210C>T (p.Asn70=) rs1417918847 0.00001
NM_001127222.2(CACNA1A):c.2124C>T (p.Phe708=) rs762654239 0.00001
NM_001127222.2(CACNA1A):c.2133C>T (p.Ile711=) rs764839814 0.00001
NM_001127222.2(CACNA1A):c.2155G>A (p.Ala719Thr) rs1201483107 0.00001
NM_001127222.2(CACNA1A):c.2172+8C>T rs200277127 0.00001
NM_001127222.2(CACNA1A):c.2198C>T (p.Ala733Val) rs1335209785 0.00001
NM_001127222.2(CACNA1A):c.2199G>A (p.Ala733=) rs1463843521 0.00001
NM_001127222.2(CACNA1A):c.2258C>T (p.Ala753Val) rs200355966 0.00001
NM_001127222.2(CACNA1A):c.2265C>T (p.Asn755=) rs1382705855 0.00001
NM_001127222.2(CACNA1A):c.2281A>G (p.Lys761Glu) rs1196111017 0.00001
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys) rs2057741441 0.00001
NM_001127222.2(CACNA1A):c.2289A>G (p.Gln763=) rs771044445 0.00001
NM_001127222.2(CACNA1A):c.2310C>G (p.Ala770=) rs1375569922 0.00001
NM_001127222.2(CACNA1A):c.2340G>A (p.Glu780=) rs562717028 0.00001
NM_001127222.2(CACNA1A):c.2349G>A (p.Lys783=) rs1187115036 0.00001
NM_001127222.2(CACNA1A):c.2358G>A (p.Leu786=) rs749958045 0.00001
NM_001127222.2(CACNA1A):c.2364C>T (p.Ala788=) rs766996486 0.00001
NM_001127222.2(CACNA1A):c.2391G>A (p.Met797Ile) rs370746809 0.00001
NM_001127222.2(CACNA1A):c.2397G>A (p.Pro799=) rs996453280 0.00001
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963 0.00001
NM_001127222.2(CACNA1A):c.2435G>A (p.Arg812Gln) rs953797733 0.00001
NM_001127222.2(CACNA1A):c.2490C>G (p.Asn830Lys) rs1248783281 0.00001
NM_001127222.2(CACNA1A):c.2491C>T (p.Arg831Cys) rs1464680327 0.00001
NM_001127222.2(CACNA1A):c.2520G>A (p.Ala840=) rs1367532933 0.00001
NM_001127222.2(CACNA1A):c.2521G>T (p.Ala841Ser) rs1057522204 0.00001
NM_001127222.2(CACNA1A):c.255C>T (p.Asn85=) rs1285665891 0.00001
NM_001127222.2(CACNA1A):c.2571C>T (p.Phe857=) rs1222215404 0.00001
NM_001127222.2(CACNA1A):c.2606G>A (p.Arg869Gln) rs1057518589 0.00001
NM_001127222.2(CACNA1A):c.2612C>A (p.Pro871His) rs1178583020 0.00001
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala) rs751675055 0.00001
NM_001127222.2(CACNA1A):c.2622G>A (p.Ser874=) rs1334069330 0.00001
NM_001127222.2(CACNA1A):c.2624C>T (p.Ala875Val) rs1309338929 0.00001
NM_001127222.2(CACNA1A):c.2638C>T (p.Arg880Trp) rs1408152396 0.00001
NM_001127222.2(CACNA1A):c.2641A>C (p.Arg881=) rs1361559490 0.00001
NM_001127222.2(CACNA1A):c.2651C>T (p.Ala884Val) rs746582791 0.00001
NM_001127222.2(CACNA1A):c.2655A>G (p.Gly885=) rs1057524746 0.00001
NM_001127222.2(CACNA1A):c.2658C>T (p.Ser886=) rs1462953587 0.00001
NM_001127222.2(CACNA1A):c.2669A>G (p.Glu890Gly) rs2057731758 0.00001
NM_001127222.2(CACNA1A):c.2679G>T (p.Arg893=) rs2057731363 0.00001
NM_001127222.2(CACNA1A):c.2696G>A (p.Arg899His) rs1290079536 0.00001
NM_001127222.2(CACNA1A):c.26C>T (p.Pro9Leu) rs1487101039 0.00001
NM_001127222.2(CACNA1A):c.270C>T (p.Tyr90=) rs371957971 0.00001
NM_001127222.2(CACNA1A):c.2717G>A (p.Arg906Gln) rs776495488 0.00001
NM_001127222.2(CACNA1A):c.2759C>G (p.Ala920Gly) rs538079885 0.00001
NM_001127222.2(CACNA1A):c.2774C>T (p.Ala925Val) rs765345767 0.00001
NM_001127222.2(CACNA1A):c.2781C>T (p.Asp927=) rs1216508972 0.00001
NM_001127222.2(CACNA1A):c.2797G>A (p.Val933Met) rs767187794 0.00001
NM_001127222.2(CACNA1A):c.2799G>A (p.Val933=) rs761397410 0.00001
NM_001127222.2(CACNA1A):c.2809G>C (p.Gly937Arg) rs746428515 0.00001
NM_001127222.2(CACNA1A):c.2811G>T (p.Gly937=) rs1322679497 0.00001
NM_001127222.2(CACNA1A):c.2818A>G (p.Arg940Gly) rs778220824 0.00001
NM_001127222.2(CACNA1A):c.2827C>T (p.Arg943Cys) rs754979047 0.00001
NM_001127222.2(CACNA1A):c.2833G>A (p.Gly945Arg) rs527593196 0.00001
NM_001127222.2(CACNA1A):c.2842C>T (p.Arg948Cys) rs16978975 0.00001
NM_001127222.2(CACNA1A):c.2852C>T (p.Ala951Val) rs1442995931 0.00001
NM_001127222.2(CACNA1A):c.2872C>A (p.His958Asn) rs923472334 0.00001
NM_001127222.2(CACNA1A):c.2882A>C (p.His961Pro) rs1316264115 0.00001
NM_001127222.2(CACNA1A):c.2884C>T (p.Arg962Cys) rs532842904 0.00001
NM_001127222.2(CACNA1A):c.2919G>A (p.Ala973=) rs1229290225 0.00001
NM_001127222.2(CACNA1A):c.2932C>T (p.Arg978Trp) rs1361244265 0.00001
NM_001127222.2(CACNA1A):c.2938C>T (p.Arg980Cys) rs778978325 0.00001
NM_001127222.2(CACNA1A):c.294-17C>T rs752007612 0.00001
NM_001127222.2(CACNA1A):c.294-4A>G rs1400044284 0.00001
NM_001127222.2(CACNA1A):c.2959C>G (p.Arg987Gly) rs1489702072 0.00001
NM_001127222.2(CACNA1A):c.2971G>A (p.Gly991Ser) rs2057722310 0.00001
NM_001127222.2(CACNA1A):c.2972G>T (p.Gly991Val) rs2057722221 0.00001
NM_001127222.2(CACNA1A):c.2979C>T (p.Gly993=) rs1347561457 0.00001
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg) rs781006387 0.00001
NM_001127222.2(CACNA1A):c.3002G>C (p.Arg1001Pro) rs1424294725 0.00001
NM_001127222.2(CACNA1A):c.3015C>T (p.His1005=) rs1226532363 0.00001
NM_001127222.2(CACNA1A):c.3052C>T (p.Arg1018Trp) rs772611976 0.00001
NM_001127222.2(CACNA1A):c.3071G>A (p.Arg1024Gln) rs1458500776 0.00001
NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His) rs200850308 0.00001
NM_001127222.2(CACNA1A):c.3170A>C (p.Gln1057Pro) rs1273138619 0.00001
NM_001127222.2(CACNA1A):c.318C>T (p.Ala106=) rs554701306 0.00001
NM_001127222.2(CACNA1A):c.3233C>T (p.Ser1078Leu) rs748935741 0.00001
NM_001127222.2(CACNA1A):c.3234G>A (p.Ser1078=) rs1331367408 0.00001
NM_001127222.2(CACNA1A):c.3238G>A (p.Ala1080Thr) rs577581172 0.00001
NM_001127222.2(CACNA1A):c.3246C>T (p.His1082=) rs556541935 0.00001
NM_001127222.2(CACNA1A):c.3247G>A (p.Gly1083Ser) rs753077104 0.00001
NM_001127222.2(CACNA1A):c.3261C>T (p.His1087=) rs776799566 0.00001
NM_001127222.2(CACNA1A):c.3262G>A (p.Ala1088Thr) rs371820430 0.00001
NM_001127222.2(CACNA1A):c.3303C>T (p.Thr1101=) rs748999071 0.00001
NM_001127222.2(CACNA1A):c.3304G>A (p.Asp1102Asn) rs372823282 0.00001
NM_001127222.2(CACNA1A):c.3308C>T (p.Pro1103Leu) rs554455455 0.00001
NM_001127222.2(CACNA1A):c.330G>A (p.Ala110=) rs375486960 0.00001
NM_001127222.2(CACNA1A):c.3331G>T (p.Ala1111Ser) rs1215692574 0.00001
NM_001127222.2(CACNA1A):c.3334A>C (p.Met1112Leu) rs755317765 0.00001
NM_001127222.2(CACNA1A):c.3347C>T (p.Pro1116Leu) rs760744104 0.00001
NM_001127222.2(CACNA1A):c.3357C>T (p.Ala1119=) rs372364153 0.00001
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys) rs774407963 0.00001
NM_001127222.2(CACNA1A):c.3371C>T (p.Thr1124Met) rs374720207 0.00001
NM_001127222.2(CACNA1A):c.3377A>G (p.Asn1126Ser) rs755440575 0.00001
NM_001127222.2(CACNA1A):c.337A>G (p.Ile113Val) rs746955115 0.00001
NM_001127222.2(CACNA1A):c.3383C>T (p.Pro1128Leu) rs754208553 0.00001
NM_001127222.2(CACNA1A):c.339C>T (p.Ile113=) rs185952971 0.00001
NM_001127222.2(CACNA1A):c.3402C>T (p.Pro1134=) rs767675502 0.00001
NM_001127222.2(CACNA1A):c.3435C>T (p.Ile1145=) rs781300443 0.00001
NM_001127222.2(CACNA1A):c.3450C>T (p.Ser1150=) rs751700486 0.00001
NM_001127222.2(CACNA1A):c.345C>G (p.Leu115=) rs747917423 0.00001
NM_001127222.2(CACNA1A):c.3479C>T (p.Ala1160Val) rs766027931 0.00001
NM_001127222.2(CACNA1A):c.3481A>G (p.Arg1161Gly) rs760265407 0.00001
NM_001127222.2(CACNA1A):c.3497C>T (p.Thr1166Ile) rs746222908 0.00001
NM_001127222.2(CACNA1A):c.3501A>G (p.Thr1167=) rs1467183042 0.00001
NM_001127222.2(CACNA1A):c.3515C>G (p.Pro1172Arg) rs16028 0.00001
NM_001127222.2(CACNA1A):c.3520T>G (p.Cys1174Gly) rs996509493 0.00001
NM_001127222.2(CACNA1A):c.3542C>G (p.Thr1181Ser) rs1250790986 0.00001
NM_001127222.2(CACNA1A):c.3543C>T (p.Thr1181=) rs773844470 0.00001
NM_001127222.2(CACNA1A):c.3553+7C>G rs878865349 0.00001
NM_001127222.2(CACNA1A):c.3629G>A (p.Gly1210Glu) rs763558455 0.00001
NM_001127222.2(CACNA1A):c.3636C>T (p.Asp1212=) rs757943547 0.00001
NM_001127222.2(CACNA1A):c.3639C>T (p.Gly1213=) rs976780203 0.00001
NM_001127222.2(CACNA1A):c.3650T>A (p.Met1217Lys) rs761983146 0.00001
NM_001127222.2(CACNA1A):c.3656C>T (p.Pro1219Leu) rs573365997 0.00001
NM_001127222.2(CACNA1A):c.367G>A (p.Asp123Asn) rs753467037 0.00001
NM_001127222.2(CACNA1A):c.3692+20A>G rs934863410 0.00001
NM_001127222.2(CACNA1A):c.3700C>T (p.Arg1234Cys) rs781738239 0.00001
NM_001127222.2(CACNA1A):c.3715A>G (p.Ile1239Val) rs375903481 0.00001
NM_001127222.2(CACNA1A):c.3724C>T (p.Leu1242=) rs1275961783 0.00001
NM_001127222.2(CACNA1A):c.3750C>T (p.Leu1250=) rs1238454656 0.00001
NM_001127222.2(CACNA1A):c.3778C>T (p.Leu1260=) rs944942986 0.00001
NM_001127222.2(CACNA1A):c.3783C>T (p.Ala1261=) rs1057523661 0.00001
NM_001127222.2(CACNA1A):c.37G>A (p.Gly13Arg) rs1202097056 0.00001
NM_001127222.2(CACNA1A):c.3803C>T (p.Pro1268Leu) rs1057522815 0.00001
NM_001127222.2(CACNA1A):c.3814C>T (p.Arg1272Trp) rs372970430 0.00001
NM_001127222.2(CACNA1A):c.3830G>A (p.Arg1277Gln) rs372344357 0.00001
NM_001127222.2(CACNA1A):c.3882+10G>C rs183712582 0.00001
NM_001127222.2(CACNA1A):c.3882+13T>C rs779233415 0.00001
NM_001127222.2(CACNA1A):c.3883-5C>T rs748652953 0.00001
NM_001127222.2(CACNA1A):c.3961A>G (p.Ser1321Gly) rs2057136011 0.00001
NM_001127222.2(CACNA1A):c.399+20A>G rs1192777400 0.00001
NM_001127222.2(CACNA1A):c.399+3G>A rs1275496281 0.00001
NM_001127222.2(CACNA1A):c.400-19T>C rs2060943767 0.00001
NM_001127222.2(CACNA1A):c.4047G>T (p.Val1349=) rs1265632174 0.00001
NM_001127222.2(CACNA1A):c.4090-16C>G rs758220361 0.00001
NM_001127222.2(CACNA1A):c.4143C>T (p.Ile1381=) rs1244179413 0.00001
NM_001127222.2(CACNA1A):c.4170C>T (p.Phe1390=) rs760102802 0.00001
NM_001127222.2(CACNA1A):c.4203A>G (p.Lys1401=) rs1160017642 0.00001
NM_001127222.2(CACNA1A):c.4256A>G (p.Lys1419Arg) rs574194354 0.00001
NM_001127222.2(CACNA1A):c.4263C>T (p.Leu1421=) rs1173445536 0.00001
NM_001127222.2(CACNA1A):c.4293A>G (p.Arg1431=) rs913405402 0.00001
NM_001127222.2(CACNA1A):c.4302G>A (p.Glu1434=) rs1052611146 0.00001
NM_001127222.2(CACNA1A):c.4389-15C>T rs1356998435 0.00001
NM_001127222.2(CACNA1A):c.4389-7C>T rs1417689500 0.00001
NM_001127222.2(CACNA1A):c.438C>T (p.Phe146=) rs755662617 0.00001
NM_001127222.2(CACNA1A):c.4462A>T (p.Ile1488Phe) rs2056601798 0.00001
NM_001127222.2(CACNA1A):c.4467C>T (p.Phe1489=) rs1600186663 0.00001
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile) rs121908234 0.00001
NM_001127222.2(CACNA1A):c.4516G>T (p.Val1506Leu) rs1322080885 0.00001
NM_001127222.2(CACNA1A):c.458T>C (p.Ile153Thr) rs369134549 0.00001
NM_001127222.2(CACNA1A):c.4590+12A>G rs760554391 0.00001
NM_001127222.2(CACNA1A):c.4590+13A>G rs1190654202 0.00001
NM_001127222.2(CACNA1A):c.4601T>C (p.Ile1534Thr) rs1004488897 0.00001
NM_001127222.2(CACNA1A):c.4618G>A (p.Ala1540Thr) rs761579946 0.00001
NM_001127222.2(CACNA1A):c.4659C>T (p.Ser1553=) rs966897092 0.00001
NM_001127222.2(CACNA1A):c.4668C>T (p.Tyr1556=) rs370203027 0.00001
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His) rs755172189 0.00001
NM_001127222.2(CACNA1A):c.4693C>T (p.Pro1565Ser) rs1353824164 0.00001
NM_001127222.2(CACNA1A):c.4707C>T (p.Tyr1569=) rs201475701 0.00001
NM_001127222.2(CACNA1A):c.4725C>T (p.Ile1575=) rs751308492 0.00001
NM_001127222.2(CACNA1A):c.4786G>A (p.Ala1596Thr) rs769043258 0.00001
NM_001127222.2(CACNA1A):c.4807G>A (p.Val1603Ile) rs943715197 0.00001
NM_001127222.2(CACNA1A):c.4821C>A (p.Leu1607=) rs2056444098 0.00001
NM_001127222.2(CACNA1A):c.4824C>T (p.Phe1608=) rs1176237039 0.00001
NM_001127222.2(CACNA1A):c.4850T>C (p.Met1617Thr) rs1469756019 0.00001
NM_001127222.2(CACNA1A):c.4866+6T>A rs757178835 0.00001
NM_001127222.2(CACNA1A):c.4876C>T (p.Arg1626Cys) rs747020168 0.00001
NM_001127222.2(CACNA1A):c.4877G>A (p.Arg1626His) rs777769751 0.00001
NM_001127222.2(CACNA1A):c.4931T>C (p.Ile1644Thr) rs2056194193 0.00001
NM_001127222.2(CACNA1A):c.4935C>T (p.Leu1645=) rs1401183344 0.00001
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys) rs779576853 0.00001
NM_001127222.2(CACNA1A):c.5015G>A (p.Arg1672His) rs1057519429 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His) rs2055849544 0.00001
NM_001127222.2(CACNA1A):c.5067+10C>T rs549805937 0.00001
NM_001127222.2(CACNA1A):c.5088G>A (p.Leu1696=) rs767743815 0.00001
NM_001127222.2(CACNA1A):c.5094C>T (p.Ile1698=) rs201844207 0.00001
NM_001127222.2(CACNA1A):c.5134-11C>T rs41276882 0.00001
NM_001127222.2(CACNA1A):c.5134-3C>T rs576141199 0.00001
NM_001127222.2(CACNA1A):c.5154C>T (p.Ile1718=) rs751799133 0.00001
NM_001127222.2(CACNA1A):c.5174G>A (p.Ser1725Asn) rs766254024 0.00001
NM_001127222.2(CACNA1A):c.5193A>C (p.Gln1731His) rs773031818 0.00001
NM_001127222.2(CACNA1A):c.5200G>A (p.Glu1734Lys) rs1064795744 0.00001
NM_001127222.2(CACNA1A):c.5249+8G>C rs747305291 0.00001
NM_001127222.2(CACNA1A):c.5250-8G>C rs1555737120 0.00001
NM_001127222.2(CACNA1A):c.5256C>T (p.Ala1752=) rs753902560 0.00001
NM_001127222.2(CACNA1A):c.5298C>T (p.Ser1766=) rs767315464 0.00001
NM_001127222.2(CACNA1A):c.5313T>C (p.Asp1771=) rs2055674093 0.00001
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=) rs886043622 0.00001
NM_001127222.2(CACNA1A):c.531G>T (p.Val177=) rs1294737592 0.00001
NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln) rs267605294 0.00001
NM_001127222.2(CACNA1A):c.536C>T (p.Thr179Met) rs773461333 0.00001
NM_001127222.2(CACNA1A):c.539+11C>T rs115447563 0.00001
NM_001127222.2(CACNA1A):c.539+8G>T rs372925573 0.00001
NM_001127222.2(CACNA1A):c.540-9T>G rs1172688314 0.00001
NM_001127222.2(CACNA1A):c.5400+7C>T rs1046598864 0.00001
NM_001127222.2(CACNA1A):c.5400+8T>C rs772508313 0.00001
NM_001127222.2(CACNA1A):c.5418C>T (p.Val1806=) rs561301072 0.00001
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile) rs1296629000 0.00001
NM_001127222.2(CACNA1A):c.5520C>T (p.Pro1840=) rs754521399 0.00001
NM_001127222.2(CACNA1A):c.5528+16G>A rs775890060 0.00001
NM_001127222.2(CACNA1A):c.5528+6A>G rs762224302 0.00001
NM_001127222.2(CACNA1A):c.5626-3T>C rs2055372579 0.00001
NM_001127222.2(CACNA1A):c.5626-6C>G rs769606952 0.00001
NM_001127222.2(CACNA1A):c.5635C>T (p.Arg1879Trp) rs746460335 0.00001
NM_001127222.2(CACNA1A):c.5706A>G (p.Thr1902=) rs1434572084 0.00001
NM_001127222.2(CACNA1A):c.5731+19C>T rs1259224644 0.00001
NM_001127222.2(CACNA1A):c.5732-8C>T rs1057521521 0.00001
NM_001127222.2(CACNA1A):c.5734G>A (p.Gly1912Arg) rs966699696 0.00001
NM_001127222.2(CACNA1A):c.573A>G (p.Leu191=) rs1229065392 0.00001
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779 0.00001
NM_001127222.2(CACNA1A):c.5760T>C (p.Ala1920=) rs760343725 0.00001
NM_001127222.2(CACNA1A):c.5768G>A (p.Arg1923Gln) rs771636070 0.00001
NM_001127222.2(CACNA1A):c.5784G>A (p.Ala1928=) rs770231014 0.00001
NM_001127222.2(CACNA1A):c.578C>T (p.Thr193Met) rs1365721398 0.00001
NM_001127222.2(CACNA1A):c.5795A>G (p.Asn1932Ser) rs1205866071 0.00001
NM_001127222.2(CACNA1A):c.5801C>G (p.Ser1934Cys) rs375365071 0.00001
NM_001127222.2(CACNA1A):c.5811G>A (p.Thr1937=) rs747273411 0.00001
NM_001127222.2(CACNA1A):c.5839+10G>A rs371733571 0.00001
NM_001127222.2(CACNA1A):c.5840-15dup rs1428959852 0.00001
NM_001127222.2(CACNA1A):c.5843C>T (p.Thr1948Met) rs748279762 0.00001
NM_001127222.2(CACNA1A):c.5854G>A (p.Val1952Met) rs749251058 0.00001
NM_001127222.2(CACNA1A):c.5871A>G (p.Ala1957=) rs751132291 0.00001
NM_001127222.2(CACNA1A):c.5937G>A (p.Glu1979=) rs768860392 0.00001
NM_001127222.2(CACNA1A):c.5966G>A (p.Arg1989His) rs1178337230 0.00001
NM_001127222.2(CACNA1A):c.5999G>C (p.Gly2000Ala) rs1303685302 0.00001
NM_001127222.2(CACNA1A):c.6005G>A (p.Gly2002Asp) rs1402384624 0.00001
NM_001127222.2(CACNA1A):c.6012C>T (p.Asn2004=) rs764448299 0.00001
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=) rs369675855 0.00001
NM_001127222.2(CACNA1A):c.6017T>G (p.Leu2006Arg) rs759624463 0.00001
NM_001127222.2(CACNA1A):c.6050+9C>T rs1401679003 0.00001
NM_001127222.2(CACNA1A):c.6050T>C (p.Leu2017Pro) rs774375692 0.00001
NM_001127222.2(CACNA1A):c.6051-11C>A rs759586410 0.00001
NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser) rs1393616835 0.00001
NM_001127222.2(CACNA1A):c.6060C>T (p.His2020=) rs1282402038 0.00001
NM_001127222.2(CACNA1A):c.6066C>T (p.Ser2022=) rs886043571 0.00001
NM_001127222.2(CACNA1A):c.6096C>A (p.Thr2032=) rs2054850952 0.00001
NM_001127222.2(CACNA1A):c.6128G>A (p.Gly2043Asp) rs765421252 0.00001
NM_001127222.2(CACNA1A):c.613C>T (p.Leu205=) rs2059326322 0.00001
NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=) rs760682283 0.00001
NM_001127222.2(CACNA1A):c.6162C>A (p.Asp2054Glu) rs774164327 0.00001
NM_001127222.2(CACNA1A):c.6190-18T>C rs751366127 0.00001
NM_001127222.2(CACNA1A):c.6190-4G>A rs769551839 0.00001
NM_001127222.2(CACNA1A):c.6190-5C>T rs368180309 0.00001
NM_001127222.2(CACNA1A):c.6190-8C>G rs762766173 0.00001
NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser) rs370514102 0.00001
NM_001127222.2(CACNA1A):c.6217G>A (p.Asp2073Asn) rs1057524336 0.00001
NM_001127222.2(CACNA1A):c.6228C>T (p.Ser2076=) rs781315895 0.00001
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu) rs751515136 0.00001
NM_001127222.2(CACNA1A):c.6241T>C (p.Tyr2081His) rs1174830824 0.00001
NM_001127222.2(CACNA1A):c.6262G>A (p.Gly2088Ser) rs1259126760 0.00001
NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu) rs769128653 0.00001
NM_001127222.2(CACNA1A):c.6295G>A (p.Glu2099Lys) rs757385012 0.00001
NM_001127222.2(CACNA1A):c.6303+14C>T rs777901156 0.00001
NM_001127222.2(CACNA1A):c.6304-3C>T rs1354563230 0.00001
NM_001127222.2(CACNA1A):c.6313G>A (p.Gly2105Ser) rs1376625416 0.00001
NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp) rs771030765 0.00001
NM_001127222.2(CACNA1A):c.6326G>A (p.Gly2109Glu) rs868808043 0.00001
NM_001127222.2(CACNA1A):c.6340-9C>T rs1297370748 0.00001
NM_001127222.2(CACNA1A):c.6360C>T (p.Pro2120=) rs1442058627 0.00001
NM_001127222.2(CACNA1A):c.636A>G (p.Leu212=) rs765072424 0.00001
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=) rs760994682 0.00001
NM_001127222.2(CACNA1A):c.6401G>A (p.Arg2134His) rs749172043 0.00001
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) rs750077868 0.00001
NM_001127222.2(CACNA1A):c.6435C>T (p.Pro2145=) rs1456597171 0.00001
NM_001127222.2(CACNA1A):c.6436G>A (p.Glu2146Lys) rs371984902 0.00001
NM_001127222.2(CACNA1A):c.6444C>A (p.Asn2148Lys) rs780779363 0.00001
NM_001127222.2(CACNA1A):c.6449G>A (p.Arg2150Gln) rs751044309 0.00001
NM_001127222.2(CACNA1A):c.6456C>A (p.His2152Gln) rs759949928 0.00001
NM_001127222.2(CACNA1A):c.6458A>G (p.Gln2153Arg) rs1242460645 0.00001
NM_001127222.2(CACNA1A):c.6463C>T (p.Arg2155Cys) rs766661019 0.00001
NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn) rs1042634748 0.00001
NM_001127222.2(CACNA1A):c.6481C>T (p.Arg2161Cys) rs1198604369 0.00001
NM_001127222.2(CACNA1A):c.6493C>T (p.Arg2165Cys) rs746582303 0.00001
NM_001127222.2(CACNA1A):c.6501G>T (p.Leu2167=) rs781746273 0.00001
NM_001127222.2(CACNA1A):c.6526+6C>T rs1366998583 0.00001
NM_001127222.2(CACNA1A):c.6527-5C>T rs1193230442 0.00001
NM_001127222.2(CACNA1A):c.6527-8C>T rs1265326582 0.00001
NM_001127222.2(CACNA1A):c.6532G>A (p.Gly2178Arg) rs953871050 0.00001
NM_001127222.2(CACNA1A):c.6549G>A (p.Met2183Ile) rs1335828021 0.00001
NM_001127222.2(CACNA1A):c.6562G>A (p.Gly2188Arg) rs965819293 0.00001
NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu) rs1325697290 0.00001
NM_001127222.2(CACNA1A):c.6582G>A (p.Glu2194=) rs777446478 0.00001
NM_001127222.2(CACNA1A):c.6588C>A (p.Asp2196Glu) rs1168700437 0.00001
NM_001127222.2(CACNA1A):c.6595C>T (p.Arg2199Trp) rs1477386827 0.00001
NM_001127222.2(CACNA1A):c.6596G>A (p.Arg2199Gln) rs1326871701 0.00001
NM_001127222.2(CACNA1A):c.6606C>T (p.Pro2202=) rs1219161255 0.00001
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg) rs1057521770 0.00001
NM_001127222.2(CACNA1A):c.6617A>G (p.Lys2206Arg) rs1444251671 0.00001
NM_001127222.2(CACNA1A):c.6629A>G (p.His2210Arg) rs1002423867 0.00001
NM_001127222.2(CACNA1A):c.6648C>T (p.His2216=) rs1281394713 0.00001
NM_001127222.2(CACNA1A):c.6667C>T (p.Pro2223Ser) rs768221184 0.00001
NM_001127222.2(CACNA1A):c.6679C>T (p.Arg2227Cys) rs757715357 0.00001
NM_001127222.2(CACNA1A):c.6685G>A (p.Ala2229Thr) rs2054683125 0.00001
NM_001127222.2(CACNA1A):c.6696G>A (p.Arg2232=) rs1392174465 0.00001
NM_001127222.2(CACNA1A):c.6698C>T (p.Pro2233Leu) rs1317740666 0.00001
NM_001127222.2(CACNA1A):c.6705C>T (p.His2235=) rs1376732755 0.00001
NM_001127222.2(CACNA1A):c.6706G>A (p.Gly2236Ser) rs752808137 0.00001
NM_001127222.2(CACNA1A):c.6709C>T (p.Arg2237Trp) rs1415336869 0.00001
NM_001127222.2(CACNA1A):c.6716G>A (p.Arg2239Gln) rs753798870 0.00001
NM_001127222.2(CACNA1A):c.6732C>T (p.Arg2244=) rs1406247650 0.00001
NM_001127222.2(CACNA1A):c.6740G>A (p.Arg2247His) rs1219651327 0.00001
NM_001127222.2(CACNA1A):c.6743C>T (p.Ser2248Leu) rs1274796380 0.00001
NM_001127222.2(CACNA1A):c.6747C>T (p.Pro2249=) rs747396290 0.00001
NM_001127222.2(CACNA1A):c.6750C>T (p.Ser2250=) rs375958273 0.00001
NM_001127222.2(CACNA1A):c.6754G>A (p.Gly2252Ser) rs1433873178 0.00001
NM_001127222.2(CACNA1A):c.6757C>T (p.Arg2253Ter) rs1166102159 0.00001
NM_001127222.2(CACNA1A):c.6758G>A (p.Arg2253Gln) rs752950486 0.00001
NM_001127222.2(CACNA1A):c.6769G>A (p.Ala2257Thr) rs1057523197 0.00001
NM_001127222.2(CACNA1A):c.6776G>A (p.Arg2259Gln) rs201582095 0.00001
NM_001127222.2(CACNA1A):c.6780+7G>A rs2054677545 0.00001
NM_001127222.2(CACNA1A):c.684G>A (p.Gln228=) rs1356192843 0.00001
NM_001127222.2(CACNA1A):c.714T>C (p.Leu238=) rs1451920573 0.00001
NM_001127222.2(CACNA1A):c.726C>T (p.Ile242=) rs1169274623 0.00001
NM_001127222.2(CACNA1A):c.74T>G (p.Val25Gly) rs565157998 0.00001
NM_001127222.2(CACNA1A):c.761C>A (p.Thr254Asn) rs1599292361 0.00001
NM_001127222.2(CACNA1A):c.774A>G (p.Glu258=) rs770324320 0.00001
NM_001127222.2(CACNA1A):c.784+11G>A rs757532272 0.00001
NM_001127222.2(CACNA1A):c.786T>C (p.Asp262=) rs944129354 0.00001
NM_001127222.2(CACNA1A):c.78C>G (p.Gly26=) rs748434655 0.00001
NM_001127222.2(CACNA1A):c.7C>T (p.Arg3Cys) rs1326606155 0.00001
NM_001127222.2(CACNA1A):c.821C>T (p.Thr274Ile) rs1250942113 0.00001
NM_001127222.2(CACNA1A):c.839C>T (p.Thr280Ile) rs1195270312 0.00001
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser) rs1212952550 0.00001
NM_001127222.2(CACNA1A):c.864G>A (p.Gln288=) rs770448965 0.00001
NM_001127222.2(CACNA1A):c.867C>T (p.Pro289=) rs777059446 0.00001
NM_001127222.2(CACNA1A):c.885C>T (p.Asn295=) rs981058428 0.00001
NM_001127222.2(CACNA1A):c.978+10G>T rs1015293932 0.00001
NM_001127222.2(CACNA1A):c.979-7C>T rs1375150525 0.00001
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) rs776176742 0.00001
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met) rs767293945 0.00001
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) rs370477379 0.00001
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys) rs557559740 0.00001
NM_001330260.2(SCN8A):c.160A>C (p.Lys54Gln) rs755721954 0.00001
NM_001330260.2(SCN8A):c.2003C>T (p.Thr668Ile) rs758253791 0.00001
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp) rs1218269439 0.00001
NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr) rs775833241 0.00001
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631 0.00001
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His) rs796053232 0.00001
NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile) rs759753811 0.00001
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val) rs764115258 0.00001
NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser) rs769269501 0.00001
NM_001605.3(AARS1):c.1007A>G (p.His336Arg) rs1025002934 0.00001
NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile) rs144982168 0.00001
NM_001605.3(AARS1):c.1997T>C (p.Val666Ala) rs145056270 0.00001
NM_001605.3(AARS1):c.242A>C (p.Lys81Thr) rs786205157 0.00001
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn) rs763757370 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_001605.3(AARS1):c.726G>A (p.Met242Ile) rs780360628 0.00001
NM_001605.3(AARS1):c.988C>T (p.Arg330Ter) rs758183257 0.00001
NM_001958.5(EEF1A2):c.1029+4G>C rs945481319 0.00001
NM_001958.5(EEF1A2):c.1029+9C>T rs2082373589 0.00001
NM_001958.5(EEF1A2):c.1030-5C>T rs1428414395 0.00001
NM_001958.5(EEF1A2):c.1064C>T (p.Ala355Val) rs146728528 0.00001
NM_001958.5(EEF1A2):c.1065C>T (p.Ala355=) rs998259316 0.00001
NM_001958.5(EEF1A2):c.1102A>G (p.Ile368Val) rs2082366535 0.00001
NM_001958.5(EEF1A2):c.1104C>T (p.Ile368=) rs965429825 0.00001
NM_001958.5(EEF1A2):c.1136T>C (p.Ile379Thr) rs1490454929 0.00001
NM_001958.5(EEF1A2):c.120G>A (p.Glu40=) rs897078195 0.00001
NM_001958.5(EEF1A2):c.1264+8G>A rs940966378 0.00001
NM_001958.5(EEF1A2):c.1265-4C>A rs562688898 0.00001
NM_001958.5(EEF1A2):c.1265-9G>T rs2082362753 0.00001
NM_001958.5(EEF1A2):c.126C>T (p.Phe42=) rs746596211 0.00001
NM_001958.5(EEF1A2):c.1338C>T (p.Gly446=) rs779261770 0.00001
NM_001958.5(EEF1A2):c.1339G>A (p.Gly447Ser) rs934642118 0.00001
NM_001958.5(EEF1A2):c.1382C>T (p.Ala461Val) rs757556226 0.00001
NM_001958.5(EEF1A2):c.138G>A (p.Ala46=) rs1212477042 0.00001
NM_001958.5(EEF1A2):c.145-7G>T rs536472004 0.00001
NM_001958.5(EEF1A2):c.240C>T (p.Phe80=) rs777444750 0.00001
NM_001958.5(EEF1A2):c.325-7C>T rs760916766 0.00001
NM_001958.5(EEF1A2):c.325-8C>T rs769119480 0.00001
NM_001958.5(EEF1A2):c.363C>T (p.Gly121=) rs746290505 0.00001
NM_001958.5(EEF1A2):c.387G>A (p.Lys129=) rs754118857 0.00001
NM_001958.5(EEF1A2):c.412C>T (p.Leu138=) rs900745409 0.00001
NM_001958.5(EEF1A2):c.426G>A (p.Thr142=) rs751391189 0.00001
NM_001958.5(EEF1A2):c.447C>T (p.Ile149=) rs772964838 0.00001
NM_001958.5(EEF1A2):c.459C>T (p.Asn153=) rs761190222 0.00001
NM_001958.5(EEF1A2):c.45C>T (p.His15=) rs546748631 0.00001
NM_001958.5(EEF1A2):c.465G>A (p.Met155Ile) rs1555883811 0.00001
NM_001958.5(EEF1A2):c.489C>T (p.Ser163=) rs138632721 0.00001
NM_001958.5(EEF1A2):c.501C>T (p.Tyr167=) rs773761730 0.00001
NM_001958.5(EEF1A2):c.510C>T (p.Ile170=) rs1425598851 0.00001
NM_001958.5(EEF1A2):c.621+19G>A rs982607125 0.00001
NM_001958.5(EEF1A2):c.622-4C>G rs1313830443 0.00001
NM_001958.5(EEF1A2):c.626C>T (p.Pro209Leu) rs768753735 0.00001
NM_001958.5(EEF1A2):c.638G>T (p.Gly213Val) rs1390638586 0.00001
NM_001958.5(EEF1A2):c.653G>A (p.Arg218His) rs1459691759 0.00001
NM_001958.5(EEF1A2):c.666C>T (p.Asn222=) rs1023284810 0.00001
NM_001958.5(EEF1A2):c.667G>A (p.Ala223Thr) rs778585590 0.00001
NM_001958.5(EEF1A2):c.693C>T (p.Ala231=) rs888357801 0.00001
NM_001958.5(EEF1A2):c.739C>T (p.Arg247Cys) rs1325353717 0.00001
NM_001958.5(EEF1A2):c.759G>T (p.Val253=) rs372796244 0.00001
NM_001958.5(EEF1A2):c.792G>C (p.Val264=) rs777241260 0.00001
NM_001958.5(EEF1A2):c.842C>T (p.Ala281Val) rs1166766963 0.00001
NM_001958.5(EEF1A2):c.873A>G (p.Ser291=) rs772266559 0.00001
NM_001958.5(EEF1A2):c.876G>A (p.Val292=) rs112732285 0.00001
NM_001958.5(EEF1A2):c.888C>T (p.His296=) rs762804574 0.00001
NM_001958.5(EEF1A2):c.895C>T (p.Leu299=) rs1309447992 0.00001
NM_001958.5(EEF1A2):c.900C>T (p.Ser300=) rs374349515 0.00001
NM_001958.5(EEF1A2):c.915C>T (p.Gly305=) rs377239518 0.00001
NM_001958.5(EEF1A2):c.942C>T (p.Asn314=) rs758126231 0.00001
NM_001958.5(EEF1A2):c.948G>A (p.Ser316=) rs750037526 0.00001
NM_001958.5(EEF1A2):c.954G>A (p.Lys318=) rs1203123076 0.00001
NM_003705.5(SLC25A12):c.*994C>T rs189758490 0.00001
NM_003705.5(SLC25A12):c.125G>A (p.Arg42His) rs143779282 0.00001
NM_003705.5(SLC25A12):c.1548G>A (p.Val516=) rs772468981 0.00001
NM_003705.5(SLC25A12):c.1769A>G (p.Gln590Arg) rs121434396 0.00001
NM_003705.5(SLC25A12):c.67-6T>A rs1302626614 0.00001
NM_003705.5(SLC25A12):c.870G>C (p.Glu290Asp) rs757002057 0.00001
NM_004113.6(FGF12):c.125-3C>G rs371917110 0.00001
NM_004171.4(SLC1A2):c.107G>A (p.Arg36His) rs980878522 0.00001
NM_004171.4(SLC1A2):c.1225G>A (p.Ala409Thr) rs1022532582 0.00001
NM_004171.4(SLC1A2):c.877G>A (p.Ala293Thr) rs956332291 0.00001
NM_004408.4(DNM1):c.1011C>T (p.Ala337=) rs753714670 0.00001
NM_004408.4(DNM1):c.103G>T (p.Ala35Ser) rs1404767209 0.00001
NM_004408.4(DNM1):c.1053C>T (p.Ile351=) rs1420306273 0.00001
NM_004408.4(DNM1):c.1098C>T (p.Phe366=) rs532535557 0.00001
NM_004408.4(DNM1):c.1101C>T (p.His367=) rs747430397 0.00001
NM_004408.4(DNM1):c.1116C>T (p.Phe372=) rs367584321 0.00001
NM_004408.4(DNM1):c.1137T>C (p.Phe379=) rs1835101654 0.00001
NM_004408.4(DNM1):c.1146G>A (p.Lys382=) rs150617335 0.00001
NM_004408.4(DNM1):c.1155A>C (p.Arg385=) rs140703430 0.00001
NM_004408.4(DNM1):c.1196+14C>T rs372024347 0.00001
NM_004408.4(DNM1):c.1196+4C>T rs1445161696 0.00001
NM_004408.4(DNM1):c.1197-4T>C rs1004698189 0.00001
NM_004408.4(DNM1):c.1197-6G>A rs767877912 0.00001
NM_004408.4(DNM1):c.1199C>T (p.Thr400Met) rs750618124 0.00001
NM_004408.4(DNM1):c.1262G>A (p.Arg421Gln) rs769689269 0.00001
NM_004408.4(DNM1):c.1268C>T (p.Pro423Leu) rs1373361613 0.00001
NM_004408.4(DNM1):c.1269G>A (p.Pro423=) rs1436554330 0.00001
NM_004408.4(DNM1):c.1298C>T (p.Ser433Leu) rs762000203 0.00001
NM_004408.4(DNM1):c.1330A>G (p.Lys444Glu) rs756764400 0.00001
NM_004408.4(DNM1):c.1335+7C>T rs201230726 0.00001
NM_004408.4(DNM1):c.1336-15C>T rs764771425 0.00001
NM_004408.4(DNM1):c.1336-7T>C rs550764968 0.00001
NM_004408.4(DNM1):c.1356A>G (p.Leu452=) rs756954152 0.00001
NM_004408.4(DNM1):c.1358G>A (p.Arg453Gln) rs750296552 0.00001
NM_004408.4(DNM1):c.1359G>A (p.Arg453=) rs968662562 0.00001
NM_004408.4(DNM1):c.1399C>T (p.Arg467Cys) rs769485700 0.00001
NM_004408.4(DNM1):c.1409G>A (p.Arg470His) rs763830358 0.00001
NM_004408.4(DNM1):c.1422+10G>A rs375886288 0.00001
NM_004408.4(DNM1):c.1422+16C>T rs766488967 0.00001
NM_004408.4(DNM1):c.1423-8C>A rs555786484 0.00001
NM_004408.4(DNM1):c.1443C>T (p.Ile481=) rs778321233 0.00001
NM_004408.4(DNM1):c.1494-10C>T rs772807242 0.00001
NM_004408.4(DNM1):c.1494-15C>T rs375232749 0.00001
NM_004408.4(DNM1):c.150T>C (p.Asn50=) rs769600214 0.00001
NM_004408.4(DNM1):c.1524G>A (p.Lys508=) rs1057523085 0.00001
NM_004408.4(DNM1):c.1545+6T>C rs368249222 0.00001
NM_004408.4(DNM1):c.1558-3C>T rs546517702 0.00001
NM_004408.4(DNM1):c.1671+11G>C rs377034879 0.00001
NM_004408.4(DNM1):c.1743G>A (p.Ser581=) rs776254391 0.00001
NM_004408.4(DNM1):c.1889T>C (p.Val630Ala) rs1295777740 0.00001
NM_004408.4(DNM1):c.1891G>C (p.Gly631Arg) rs1333859821 0.00001
NM_004408.4(DNM1):c.1894-5C>G rs1836928538 0.00001
NM_004408.4(DNM1):c.1906-6T>C rs138961089 0.00001
NM_004408.4(DNM1):c.1932C>T (p.Ser644=) rs750934085 0.00001
NM_004408.4(DNM1):c.1956C>T (p.Asp652=) rs1564353077 0.00001
NM_004408.4(DNM1):c.199C>T (p.Arg67Cys) rs199575353 0.00001
NM_004408.4(DNM1):c.2070T>A (p.Ile690=) rs1019671226 0.00001
NM_004408.4(DNM1):c.2076+17A>G rs1361466672 0.00001
NM_004408.4(DNM1):c.2076+4C>T rs374379668 0.00001
NM_004408.4(DNM1):c.2113C>T (p.Leu705=) rs752228958 0.00001
NM_004408.4(DNM1):c.2163G>A (p.Gln721=) rs146678077 0.00001
NM_004408.4(DNM1):c.2173C>T (p.Arg725Cys) rs1414107946 0.00001
NM_004408.4(DNM1):c.2178C>A (p.Asp726Glu) rs745835138 0.00001
NM_004408.4(DNM1):c.224A>G (p.Asn75Ser) rs551214260 0.00001
NM_004408.4(DNM1):c.2310C>T (p.Ala770=) rs1224582228 0.00001
NM_004408.4(DNM1):c.2318+10C>T rs755903943 0.00001
NM_004408.4(DNM1):c.235+10C>T rs372579464 0.00001
NM_004408.4(DNM1):c.2360C>T (p.Ala787Val) rs1363606775 0.00001
NM_004408.4(DNM1):c.2361C>T (p.Ala787=) rs1041513039 0.00001
NM_004408.4(DNM1):c.2379C>T (p.Pro793=) rs1215135225 0.00001
NM_004408.4(DNM1):c.2418G>T (p.Gly806=) rs1413872976 0.00001
NM_004408.4(DNM1):c.2423C>T (p.Ala808Val) rs1474835177 0.00001
NM_004408.4(DNM1):c.2435C>A (p.Ala812Glu) rs1353174747 0.00001
NM_004408.4(DNM1):c.2455C>T (p.Pro819Ser) rs1131692001 0.00001
NM_004408.4(DNM1):c.2527G>A (p.Val843Ile) rs1006999214 0.00001
NM_004408.4(DNM1):c.2536C>T (p.Arg846Ter) rs752575279 0.00001
NM_004408.4(DNM1):c.2561G>A (p.Arg854His) rs781345149 0.00001
NM_004408.4(DNM1):c.267G>T (p.Lys89Asn) rs1229779896 0.00001
NM_004408.4(DNM1):c.292C>G (p.Arg98Gly) rs1206732749 0.00001
NM_004408.4(DNM1):c.354G>A (p.Val118=) rs1357577359 0.00001
NM_004408.4(DNM1):c.358A>G (p.Ile120Val) rs1057520197 0.00001
NM_004408.4(DNM1):c.384C>T (p.His128=) rs535527521 0.00001
NM_004408.4(DNM1):c.386-17C>T rs766023182 0.00001
NM_004408.4(DNM1):c.386-8C>T rs764950748 0.00001
NM_004408.4(DNM1):c.3G>T (p.Met1Ile) rs1401701364 0.00001
NM_004408.4(DNM1):c.44G>A (p.Arg15Gln) rs763288862 0.00001
NM_004408.4(DNM1):c.474C>T (p.Asp158=) rs568247101 0.00001
NM_004408.4(DNM1):c.528C>T (p.Pro176=) rs146242842 0.00001
NM_004408.4(DNM1):c.543G>A (p.Leu181=) rs759118746 0.00001
NM_004408.4(DNM1):c.584C>T (p.Pro195Leu) rs780514615 0.00001
NM_004408.4(DNM1):c.595C>T (p.Arg199Cys) rs1485891906 0.00001
NM_004408.4(DNM1):c.603C>T (p.Ile201=) rs1484030185 0.00001
NM_004408.4(DNM1):c.624C>T (p.Asp208=) rs1395270062 0.00001
NM_004408.4(DNM1):c.633C>T (p.Asp211=) rs1043525791 0.00001
NM_004408.4(DNM1):c.650G>A (p.Arg217His) rs753953686 0.00001
NM_004408.4(DNM1):c.695T>C (p.Ile232Thr) rs766504829 0.00001
NM_004408.4(DNM1):c.720G>A (p.Lys240=) rs969868074 0.00001
NM_004408.4(DNM1):c.748G>A (p.Ala250Thr) rs1422655933 0.00001
NM_004408.4(DNM1):c.775T>C (p.Phe259Leu) rs1431736054 0.00001
NM_004408.4(DNM1):c.804G>A (p.Leu268=) rs771201307 0.00001
NM_004408.4(DNM1):c.822G>A (p.Thr274=) rs765410948 0.00001
NM_004408.4(DNM1):c.827A>G (p.Tyr276Cys) rs752917058 0.00001
NM_004408.4(DNM1):c.853C>T (p.Leu285=) rs546034278 0.00001
NM_004408.4(DNM1):c.882G>A (p.Pro294=) rs559572430 0.00001
NM_004408.4(DNM1):c.890G>A (p.Arg297Gln) rs1321080189 0.00001
NM_004408.4(DNM1):c.920T>C (p.Ile307Thr) rs1052613908 0.00001
NM_004408.4(DNM1):c.924G>A (p.Glu308=) rs1364961903 0.00001
NM_004408.4(DNM1):c.946A>G (p.Asn316Asp) rs1214581005 0.00001
NM_004408.4(DNM1):c.990G>T (p.Leu330=) rs761236543 0.00001
NM_004408.4(DNM1):c.992+18C>T rs1320762709 0.00001
NM_004408.4(DNM1):c.992+19C>T rs1375346310 0.00001
NM_004974.4(KCNA2):c.1014G>C (p.Gly338=) rs975996921 0.00001
NM_004974.4(KCNA2):c.1108G>A (p.Val370Ile) rs756214647 0.00001
NM_004974.4(KCNA2):c.1113C>T (p.Ser371=) rs1022053211 0.00001
NM_004974.4(KCNA2):c.1154T>C (p.Ile385Thr) rs1197586006 0.00001
NM_004974.4(KCNA2):c.1256G>A (p.Arg419Gln) rs1296710118 0.00001
NM_004974.4(KCNA2):c.1281C>T (p.Ala427=) rs769892809 0.00001
NM_004974.4(KCNA2):c.1385A>G (p.Gln462Arg) rs767147366 0.00001
NM_004974.4(KCNA2):c.1433A>G (p.Lys478Arg) rs1243868138 0.00001
NM_004974.4(KCNA2):c.144A>G (p.Leu48=) rs369373711 0.00001
NM_004974.4(KCNA2):c.1466A>G (p.Tyr489Cys) rs149776127 0.00001
NM_004974.4(KCNA2):c.156C>T (p.Ala52=) rs1444396267 0.00001
NM_004974.4(KCNA2):c.194G>A (p.Arg65Gln) rs1649516324 0.00001
NM_004974.4(KCNA2):c.234C>T (p.Phe78=) rs1384622440 0.00001
NM_004974.4(KCNA2):c.23C>T (p.Pro8Leu) rs1487522107 0.00001
NM_004974.4(KCNA2):c.273C>T (p.Tyr91=) rs750174299 0.00001
NM_004974.4(KCNA2):c.290G>A (p.Arg97Gln) rs1194485302 0.00001
NM_004974.4(KCNA2):c.366G>A (p.Ala122=) rs768027755 0.00001
NM_004974.4(KCNA2):c.397A>G (p.Ile133Val) rs759722211 0.00001
NM_004974.4(KCNA2):c.465C>T (p.Tyr155=) rs752785338 0.00001
NM_004974.4(KCNA2):c.511A>G (p.Met171Val) rs773468235 0.00001
NM_004974.4(KCNA2):c.532G>A (p.Val178Ile) rs762594923 0.00001
NM_004974.4(KCNA2):c.552A>G (p.Thr184=) rs1649493531 0.00001
NM_004974.4(KCNA2):c.555G>A (p.Leu185=) rs553243804 0.00001
NM_004974.4(KCNA2):c.565C>T (p.Arg189Trp) rs770611476 0.00001
NM_004974.4(KCNA2):c.601A>T (p.Thr201Ser) rs1016641998 0.00001
NM_004974.4(KCNA2):c.65C>G (p.Thr22Ser) rs1403692006 0.00001
NM_004974.4(KCNA2):c.745G>A (p.Gly249Ser) rs746926057 0.00001
NM_004974.4(KCNA2):c.792C>A (p.Ile264=) rs200005187 0.00001
NM_004974.4(KCNA2):c.862A>G (p.Met288Val) rs1486839913 0.00001
NM_004974.4(KCNA2):c.885C>T (p.Val295=) rs749777424 0.00001
NM_004974.4(KCNA2):c.891G>T (p.Arg297=) rs538914802 0.00001
NM_004974.4(KCNA2):c.909G>A (p.Arg303=) rs759220639 0.00001
NM_004974.4(KCNA2):c.915C>T (p.Phe305=) rs776140578 0.00001
NM_004974.4(KCNA2):c.9G>A (p.Val3=) rs1217542162 0.00001
NM_004975.4(KCNB1):c.1023C>T (p.Gly341=) rs763113494 0.00001
NM_004975.4(KCNB1):c.1047C>A (p.Val349=) rs773495969 0.00001
NM_004975.4(KCNB1):c.1098C>T (p.Ala366=) rs777002170 0.00001
NM_004975.4(KCNB1):c.1116C>G (p.Thr372=) rs1347667767 0.00001
NM_004975.4(KCNB1):c.1128T>A (p.Thr376=) rs375581882 0.00001
NM_004975.4(KCNB1):c.117G>A (p.Gly39=) rs368376649 0.00001
NM_004975.4(KCNB1):c.1294C>T (p.Arg432Trp) rs752596402 0.00001
NM_004975.4(KCNB1):c.1299A>G (p.Arg433=) rs758700383 0.00001
NM_004975.4(KCNB1):c.1332C>T (p.Ser444=) rs1178240064 0.00001
NM_004975.4(KCNB1):c.1355A>G (p.Asp452Gly) rs760931963 0.00001
NM_004975.4(KCNB1):c.1410G>A (p.Glu470=) rs1214032172 0.00001
NM_004975.4(KCNB1):c.1444C>A (p.His482Asn) rs1171133807 0.00001
NM_004975.4(KCNB1):c.1506G>T (p.Lys502Asn) rs761247010 0.00001
NM_004975.4(KCNB1):c.1529G>A (p.Gly510Glu) rs767889610 0.00001
NM_004975.4(KCNB1):c.1550C>T (p.Ser517Leu) rs770677266 0.00001
NM_004975.4(KCNB1):c.1606A>T (p.Met536Leu) rs1984227856 0.00001
NM_004975.4(KCNB1):c.1649C>T (p.Ser550Leu) rs374024543 0.00001
NM_004975.4(KCNB1):c.1693A>G (p.Ile565Val) rs761452916 0.00001
NM_004975.4(KCNB1):c.1723C>T (p.Arg575Cys) rs947355756 0.00001
NM_004975.4(KCNB1):c.1727C>A (p.Thr576Lys) rs1355278265 0.00001
NM_004975.4(KCNB1):c.1778G>C (p.Ser593Thr) rs1415361663 0.00001
NM_004975.4(KCNB1):c.1862C>T (p.Ala621Val) rs770069345 0.00001
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr) rs1447311755 0.00001
NM_004975.4(KCNB1):c.1937C>A (p.Ala646Asp) rs1247080453 0.00001
NM_004975.4(KCNB1):c.1950T>C (p.Ser650=) rs767412426 0.00001
NM_004975.4(KCNB1):c.1960A>T (p.Ile654Phe) rs1276898684 0.00001
NM_004975.4(KCNB1):c.1962C>T (p.Ile654=) rs1226209770 0.00001
NM_004975.4(KCNB1):c.1963G>A (p.Glu655Lys) rs769948178 0.00001
NM_004975.4(KCNB1):c.1968C>T (p.Ser656=) rs751330439 0.00001
NM_004975.4(KCNB1):c.2049A>C (p.Pro683=) rs751308084 0.00001
NM_004975.4(KCNB1):c.204G>A (p.Ser68=) rs1202077661 0.00001
NM_004975.4(KCNB1):c.2055C>A (p.Leu685=) rs200849612 0.00001
NM_004975.4(KCNB1):c.2083C>A (p.Leu695Ile) rs775433680 0.00001
NM_004975.4(KCNB1):c.2099G>A (p.Ser700Asn) rs1984201256 0.00001
NM_004975.4(KCNB1):c.2127G>A (p.Glu709=) rs750280554 0.00001
NM_004975.4(KCNB1):c.2180C>G (p.Thr727Ser) rs778296598 0.00001
NM_004975.4(KCNB1):c.2200C>T (p.Pro734Ser) rs1214997887 0.00001
NM_004975.4(KCNB1):c.2201C>A (p.Pro734His) rs780940515 0.00001
NM_004975.4(KCNB1):c.2203C>G (p.Pro735Ala) rs267605983 0.00001
NM_004975.4(KCNB1):c.2320C>A (p.Pro774Thr) rs748597382 0.00001
NM_004975.4(KCNB1):c.2322C>T (p.Pro774=) rs1471605520 0.00001
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala) rs142461221 0.00001
NM_004975.4(KCNB1):c.2345C>T (p.Thr782Ile) rs751639377 0.00001
NM_004975.4(KCNB1):c.2352G>A (p.Pro784=) rs763162952 0.00001
NM_004975.4(KCNB1):c.2410A>G (p.Thr804Ala) rs1262864745 0.00001
NM_004975.4(KCNB1):c.2411C>T (p.Thr804Ile) rs1049874069 0.00001
NM_004975.4(KCNB1):c.2425T>C (p.Leu809=) rs745432739 0.00001
NM_004975.4(KCNB1):c.2457A>G (p.Ala819=) rs755210446 0.00001
NM_004975.4(KCNB1):c.2471G>A (p.Gly824Asp) rs780469478 0.00001
NM_004975.4(KCNB1):c.2524C>T (p.Arg842Cys) rs758964585 0.00001
NM_004975.4(KCNB1):c.2525G>A (p.Arg842His) rs185422169 0.00001
NM_004975.4(KCNB1):c.2531T>C (p.Leu844Ser) rs1314041160 0.00001
NM_004975.4(KCNB1):c.27C>A (p.Gly9=) rs760648829 0.00001
NM_004975.4(KCNB1):c.29C>T (p.Ser10Phe) rs902335211 0.00001
NM_004975.4(KCNB1):c.300C>G (p.Arg100=) rs760237871 0.00001
NM_004975.4(KCNB1):c.411C>T (p.Tyr137=) rs747090668 0.00001
NM_004975.4(KCNB1):c.492T>C (p.Asp164=) rs1392771017 0.00001
NM_004975.4(KCNB1):c.4C>T (p.Pro2Ser) rs1054441474 0.00001
NM_004975.4(KCNB1):c.54C>T (p.Pro18=) rs1403444378 0.00001
NM_004975.4(KCNB1):c.567+3G>A rs752873604 0.00001
NM_004975.4(KCNB1):c.660C>T (p.Phe220=) rs751017425 0.00001
NM_004975.4(KCNB1):c.702C>T (p.Ala234=) rs753634361 0.00001
NM_004975.4(KCNB1):c.703G>A (p.Val235Met) rs1315753296 0.00001
NM_004975.4(KCNB1):c.711C>T (p.Ile237=) rs1020438851 0.00001
NM_004975.4(KCNB1):c.738G>A (p.Leu246=) rs1336511502 0.00001
NM_004975.4(KCNB1):c.81G>A (p.Lys27=) rs910155179 0.00001
NM_004975.4(KCNB1):c.84G>C (p.Ala28=) rs748425302 0.00001
NM_004975.4(KCNB1):c.856G>A (p.Val286Met) rs1194019938 0.00001
NM_004975.4(KCNB1):c.882C>T (p.Arg294=) rs757868422 0.00001
NM_004975.4(KCNB1):c.900C>A (p.Arg300=) rs1057523982 0.00001
NM_004975.4(KCNB1):c.903C>T (p.Ile301=) rs1441724609 0.00001
NM_004975.4(KCNB1):c.954G>A (p.Gln318=) rs368624252 0.00001
NM_004975.4(KCNB1):c.974G>A (p.Arg325Gln) rs759765009 0.00001
NM_004975.4(KCNB1):c.984C>T (p.Tyr328=) rs1179351306 0.00001
NM_004975.4(KCNB1):c.99C>A (p.Val33=) rs932309335 0.00001
NM_007254.4(PNKP):c.1016C>T (p.Pro339Leu) rs1025604697 0.00001
NM_007254.4(PNKP):c.1018G>C (p.Ala340Pro) rs1194802183 0.00001
NM_007254.4(PNKP):c.1029+16G>A rs982882766 0.00001
NM_007254.4(PNKP):c.1046C>T (p.Ser349Leu) rs758045226 0.00001
NM_007254.4(PNKP):c.1048G>C (p.Gly350Arg) rs750098786 0.00001
NM_007254.4(PNKP):c.1050G>A (p.Gly350=) rs1194208521 0.00001
NM_007254.4(PNKP):c.1051C>T (p.Pro351Ser) rs764879888 0.00001
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu) rs797045891 0.00001
NM_007254.4(PNKP):c.1056C>G (p.Leu352=) rs767011520 0.00001
NM_007254.4(PNKP):c.1066G>T (p.Glu356Ter) rs1170743406 0.00001
NM_007254.4(PNKP):c.1074G>A (p.Arg358=) rs771883677 0.00001
NM_007254.4(PNKP):c.1087G>A (p.Ala363Thr) rs1187151464 0.00001
NM_007254.4(PNKP):c.10G>T (p.Val4Leu) rs530767303 0.00001
NM_007254.4(PNKP):c.1107C>T (p.Val369=) rs1233198739 0.00001
NM_007254.4(PNKP):c.1108G>A (p.Ala370Thr) rs945654606 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.1127-6A>C rs936791908 0.00001
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079 0.00001
NM_007254.4(PNKP):c.1140C>T (p.Thr380=) rs780500233 0.00001
NM_007254.4(PNKP):c.1145T>C (p.Leu382Pro) rs796052855 0.00001
NM_007254.4(PNKP):c.1188+19C>T rs1484018266 0.00001
NM_007254.4(PNKP):c.1188+1G>A rs1057518102 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.1193C>T (p.Thr398Met) rs1010036717 0.00001
NM_007254.4(PNKP):c.1200C>T (p.Gly400=) rs1188834887 0.00001
NM_007254.4(PNKP):c.1207C>T (p.Gln403Ter) rs372404688 0.00001
NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys) rs768304312 0.00001
NM_007254.4(PNKP):c.1212C>T (p.Arg404=) rs775042023 0.00001
NM_007254.4(PNKP):c.1217T>G (p.Val406Gly) rs141938129 0.00001
NM_007254.4(PNKP):c.1219A>C (p.Thr407Pro) rs199652836 0.00001
NM_007254.4(PNKP):c.1232C>T (p.Thr411Ile) rs868384150 0.00001
NM_007254.4(PNKP):c.1233A>G (p.Thr411=) rs1057522305 0.00001
NM_007254.4(PNKP):c.1235C>T (p.Ala412Val) rs1060502500 0.00001
NM_007254.4(PNKP):c.1239G>A (p.Leu413=) rs1488660891 0.00001
NM_007254.4(PNKP):c.1247G>A (p.Gly416Glu) rs1198936842 0.00001
NM_007254.4(PNKP):c.1255G>A (p.Val419Ile) rs756416098 0.00001
NM_007254.4(PNKP):c.1258G>T (p.Ala420Ser) rs754981151 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.1292G>A (p.Arg431His) rs950502049 0.00001
NM_007254.4(PNKP):c.1293C>T (p.Arg431=) rs143390809 0.00001
NM_007254.4(PNKP):c.1295C>T (p.Ala432Val) rs1568658987 0.00001
NM_007254.4(PNKP):c.1298+1_1298+10del rs1568658916 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.1303G>A (p.Val435Ile) rs1568658756 0.00001
NM_007254.4(PNKP):c.1309T>C (p.Cys437Arg) rs772111430 0.00001
NM_007254.4(PNKP):c.1315C>T (p.Arg439Ter) rs539286945 0.00001
NM_007254.4(PNKP):c.1323G>A (p.Ala441=) rs778138676 0.00001
NM_007254.4(PNKP):c.1330C>T (p.Pro444Ser) rs1191025361 0.00001
NM_007254.4(PNKP):c.1331C>T (p.Pro444Leu) rs908736344 0.00001
NM_007254.4(PNKP):c.1373G>A (p.Arg458His) rs1187812495 0.00001
NM_007254.4(PNKP):c.1383C>T (p.Asn461=) rs745974624 0.00001
NM_007254.4(PNKP):c.1384C>T (p.Arg462Trp) rs778893834 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.1387-3C>G rs1470343514 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.1429A>G (p.Met477Val) rs796052856 0.00001
NM_007254.4(PNKP):c.1430T>C (p.Met477Thr) rs766655539 0.00001
NM_007254.4(PNKP):c.1432G>A (p.Val478Ile) rs796052857 0.00001
NM_007254.4(PNKP):c.143del (p.Arg48fs) rs766530579 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.1465C>T (p.Pro489Ser) rs746916070 0.00001
NM_007254.4(PNKP):c.1477G>A (p.Glu493Lys) rs1488577824 0.00001
NM_007254.4(PNKP):c.1496T>A (p.Leu499Gln) rs774739756 0.00001
NM_007254.4(PNKP):c.14A>G (p.Glu5Gly) rs1278449939 0.00001
NM_007254.4(PNKP):c.152-18C>G rs779728115 0.00001
NM_007254.4(PNKP):c.152-8A>G rs751424212 0.00001
NM_007254.4(PNKP):c.152T>G (p.Val51Gly) rs758700077 0.00001
NM_007254.4(PNKP):c.1537C>T (p.Arg513Trp) rs112217838 0.00001
NM_007254.4(PNKP):c.1538G>A (p.Arg513Gln) rs761491872 0.00001
NM_007254.4(PNKP):c.1551G>A (p.Gln517=) rs771913446 0.00001
NM_007254.4(PNKP):c.1558G>C (p.Glu520Gln) rs770823063 0.00001
NM_007254.4(PNKP):c.1561G>A (p.Gly521Ser) rs1289682803 0.00001
NM_007254.4(PNKP):c.184G>A (p.Val62Met) rs1467903741 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.199-7T>A rs904994238 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.313C>T (p.Arg105Cys) rs1016887861 0.00001
NM_007254.4(PNKP):c.329G>A (p.Arg110His) rs867937617 0.00001
NM_007254.4(PNKP):c.363dup (p.Thr122fs) rs745505490 0.00001
NM_007254.4(PNKP):c.422G>A (p.Arg141Gln) rs570013652 0.00001
NM_007254.4(PNKP):c.473C>T (p.Ala158Val) rs372615308 0.00001
NM_007254.4(PNKP):c.482T>C (p.Val161Ala) rs368921337 0.00001
NM_007254.4(PNKP):c.498G>A (p.Lys166=) rs141251138 0.00001
NM_007254.4(PNKP):c.499-4C>G rs545573584 0.00001
NM_007254.4(PNKP):c.499-7A>C rs909512959 0.00001
NM_007254.4(PNKP):c.520G>A (p.Gly174Arg) rs142770020 0.00001
NM_007254.4(PNKP):c.564C>T (p.Gly188=) rs574408360 0.00001
NM_007254.4(PNKP):c.566C>G (p.Pro189Arg) rs570975244 0.00001
NM_007254.4(PNKP):c.56C>T (p.Ala19Val) rs201258910 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.602G>A (p.Arg201His) rs150253619 0.00001
NM_007254.4(PNKP):c.60C>T (p.Pro20=) rs1037495706 0.00001
NM_007254.4(PNKP):c.624C>T (p.Ala208=) rs571119317 0.00001
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701 0.00001
NM_007254.4(PNKP):c.634A>G (p.Lys212Glu) rs762187891 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.637C>T (p.Leu213=) rs770006231 0.00001
NM_007254.4(PNKP):c.657G>A (p.Gln219=) rs1332607261 0.00001
NM_007254.4(PNKP):c.667G>A (p.Gly223Arg) rs764562312 0.00001
NM_007254.4(PNKP):c.688G>A (p.Glu230Lys) rs768745851 0.00001
NM_007254.4(PNKP):c.713C>T (p.Ala238Val) rs746166841 0.00001
NM_007254.4(PNKP):c.718G>A (p.Val240Met) rs1315272571 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.758C>T (p.Thr253Met) rs538161505 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.763G>A (p.Ala255Thr) rs398124249 0.00001
NM_007254.4(PNKP):c.776G>A (p.Arg259Gln) rs1358481768 0.00001
NM_007254.4(PNKP):c.780G>A (p.Lys260=) rs1019739332 0.00001
NM_007254.4(PNKP):c.788C>T (p.Thr263Met) rs766704284 0.00001
NM_007254.4(PNKP):c.792C>T (p.Gly264=) rs1188638021 0.00001
NM_007254.4(PNKP):c.794T>C (p.Met265Thr) rs756988038 0.00001
NM_007254.4(PNKP):c.816+6T>A rs1313353571 0.00001
NM_007254.4(PNKP):c.817-5C>T rs398124250 0.00001
NM_007254.4(PNKP):c.830C>T (p.Thr277Met) rs1453288814 0.00001
NM_007254.4(PNKP):c.853A>G (p.Ile285Val) rs750224965 0.00001
NM_007254.4(PNKP):c.863G>A (p.Gly288Glu) rs1215859117 0.00001
NM_007254.4(PNKP):c.865+20T>C rs921950177 0.00001
NM_007254.4(PNKP):c.865+6G>A rs776910301 0.00001
NM_007254.4(PNKP):c.868G>A (p.Ala290Thr) rs1485940017 0.00001
NM_007254.4(PNKP):c.872C>G (p.Ala291Gly) rs1259588757 0.00001
NM_007254.4(PNKP):c.873C>T (p.Ala291=) rs749641401 0.00001
NM_007254.4(PNKP):c.925G>A (p.Ala309Thr) rs202022265 0.00001
NM_007254.4(PNKP):c.927C>A (p.Ala309=) rs375879639 0.00001
NM_007254.4(PNKP):c.932G>A (p.Arg311His) rs372435922 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_007254.4(PNKP):c.992G>A (p.Trp331Ter) rs772727116 0.00001
NM_015192.4(PLCB1):c.*1795A>C rs1280054046 0.00001
NM_015192.4(PLCB1):c.*2485G>C rs1988098726 0.00001
NM_015192.4(PLCB1):c.*372A>G rs886056967 0.00001
NM_015192.4(PLCB1):c.*423G>A rs886056969 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.1183A>G (p.Ile395Val) rs564559831 0.00001
NM_015192.4(PLCB1):c.1219A>G (p.Ile407Val) rs546265226 0.00001
NM_015192.4(PLCB1):c.121A>G (p.Ile41Val) rs191106606 0.00001
NM_015192.4(PLCB1):c.1250C>T (p.Ser417Phe) rs559611655 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.1366A>G (p.Met456Val) rs777452326 0.00001
NM_015192.4(PLCB1):c.1446C>T (p.Leu482=) rs372481162 0.00001
NM_015192.4(PLCB1):c.1460C>T (p.Ser487Phe) rs1376374003 0.00001
NM_015192.4(PLCB1):c.1474G>A (p.Asp492Asn) rs1319451536 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.1537G>A (p.Asp513Asn) rs764250569 0.00001
NM_015192.4(PLCB1):c.1582-10C>T rs770810162 0.00001
NM_015192.4(PLCB1):c.1582-3C>A rs1055626063 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.1643A>T (p.Gln548Leu) rs1158119382 0.00001
NM_015192.4(PLCB1):c.1657G>C (p.Glu553Gln) rs1555786069 0.00001
NM_015192.4(PLCB1):c.1668A>G (p.Glu556=) rs886056963 0.00001
NM_015192.4(PLCB1):c.1686T>G (p.Asn562Lys) rs745674166 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.1711G>A (p.Val571Met) rs1394924865 0.00001
NM_015192.4(PLCB1):c.1742A>G (p.Lys581Arg) rs1568574949 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.1930G>A (p.Gly644Arg) rs781536705 0.00001
NM_015192.4(PLCB1):c.1961T>C (p.Phe654Ser) rs369668806 0.00001
NM_015192.4(PLCB1):c.1962C>T (p.Phe654=) rs747774959 0.00001
NM_015192.4(PLCB1):c.2007C>T (p.Ile669=) rs373550621 0.00001
NM_015192.4(PLCB1):c.2008G>A (p.Val670Ile) rs772981786 0.00001
NM_015192.4(PLCB1):c.200G>A (p.Ser67Asn) rs775742325 0.00001
NM_015192.4(PLCB1):c.2042A>G (p.Lys681Arg) rs776660417 0.00001
NM_015192.4(PLCB1):c.2067T>C (p.Ser689=) rs1016422043 0.00001
NM_015192.4(PLCB1):c.2134G>T (p.Ala712Ser) rs978185234 0.00001
NM_015192.4(PLCB1):c.2176G>A (p.Val726Ile) rs756337847 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.2267T>G (p.Phe756Cys) rs1350964561 0.00001
NM_015192.4(PLCB1):c.2286G>T (p.Leu762Phe) rs202079822 0.00001
NM_015192.4(PLCB1):c.2300T>C (p.Ile767Thr) rs745553901 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.2387A>G (p.Lys796Arg) rs886056964 0.00001
NM_015192.4(PLCB1):c.2405C>T (p.Thr802Ile) rs377053037 0.00001
NM_015192.4(PLCB1):c.2414-14T>G rs755970261 0.00001
NM_015192.4(PLCB1):c.2421C>T (p.Ile807=) rs768060162 0.00001
NM_015192.4(PLCB1):c.2534G>A (p.Gly845Glu) rs749715935 0.00001
NM_015192.4(PLCB1):c.2552C>T (p.Ala851Val) rs1326445069 0.00001
NM_015192.4(PLCB1):c.2600C>T (p.Thr867Ile) rs746314670 0.00001
NM_015192.4(PLCB1):c.260G>A (p.Arg87His) rs750475493 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.2753C>T (p.Ser918Leu) rs759604666 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.2785G>C (p.Glu929Gln) rs758788229 0.00001
NM_015192.4(PLCB1):c.2886G>A (p.Arg962=) rs1488153462 0.00001
NM_015192.4(PLCB1):c.288G>T (p.Gly96=) rs200521017 0.00001
NM_015192.4(PLCB1):c.2892C>T (p.Ala964=) rs546783466 0.00001
NM_015192.4(PLCB1):c.2893G>A (p.Ala965Thr) rs1253411202 0.00001
NM_015192.4(PLCB1):c.289C>T (p.Arg97Cys) rs778824465 0.00001
NM_015192.4(PLCB1):c.2930+13A>G rs779541589 0.00001
NM_015192.4(PLCB1):c.2930+17T>G rs754899592 0.00001
NM_015192.4(PLCB1):c.2930+4A>G rs1467441458 0.00001
NM_015192.4(PLCB1):c.2969T>C (p.Ile990Thr) rs758174226 0.00001
NM_015192.4(PLCB1):c.2992G>C (p.Asp998His) rs1982854661 0.00001
NM_015192.4(PLCB1):c.3074A>G (p.Tyr1025Cys) rs1250342429 0.00001
NM_015192.4(PLCB1):c.3095G>A (p.Arg1032Gln) rs780373377 0.00001
NM_015192.4(PLCB1):c.3105T>G (p.Ile1035Met) rs1458003629 0.00001
NM_015192.4(PLCB1):c.3111+7C>T rs749548164 0.00001
NM_015192.4(PLCB1):c.3128C>T (p.Thr1043Met) rs754052641 0.00001
NM_015192.4(PLCB1):c.3172A>G (p.Lys1058Glu) rs771219955 0.00001
NM_015192.4(PLCB1):c.319T>C (p.Tyr107His) rs759519379 0.00001
NM_015192.4(PLCB1):c.31T>G (p.Leu11Val) rs759794686 0.00001
NM_015192.4(PLCB1):c.3292A>G (p.Met1098Val) rs1325949995 0.00001
NM_015192.4(PLCB1):c.3294G>T (p.Met1098Ile) rs1983651282 0.00001
NM_015192.4(PLCB1):c.3300G>T (p.Arg1100=) rs370182417 0.00001
NM_015192.4(PLCB1):c.3304T>C (p.Tyr1102His) rs376179077 0.00001
NM_015192.4(PLCB1):c.3336G>A (p.Arg1112=) rs771734537 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.340A>G (p.Ile114Val) rs561450964 0.00001
NM_015192.4(PLCB1):c.3422A>C (p.Lys1141Thr) rs758111758 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.3505A>G (p.Met1169Val) rs766079031 0.00001
NM_015192.4(PLCB1):c.3522T>G (p.Ser1174Arg) rs765066861 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.3616G>A (p.Asp1206Asn) rs761748712 0.00001
NM_015192.4(PLCB1):c.3626G>A (p.Gly1209Glu) rs779064619 0.00001
NM_015192.4(PLCB1):c.379G>A (p.Ala127Thr) rs779377929 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.696-3T>C rs1439321294 0.00001
NM_015192.4(PLCB1):c.723C>T (p.Thr241=) rs781550034 0.00001
NM_015192.4(PLCB1):c.807G>C (p.Glu269Asp) rs1222914240 0.00001
NM_015192.4(PLCB1):c.853G>A (p.Ala285Thr) rs776416226 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_015509.4(NECAP1):c.13T>C (p.Leu5=) rs780897889 0.00001
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter) rs587777420 0.00001
NM_015509.4(NECAP1):c.195A>G (p.Ser65=) rs770774824 0.00001
NM_015509.4(NECAP1):c.197-12C>T rs753873119 0.00001
NM_015509.4(NECAP1):c.301+14G>A rs758362815 0.00001
NM_015509.4(NECAP1):c.302-13A>G rs776765650 0.00001
NM_015509.4(NECAP1):c.305G>A (p.Arg102His) rs766363501 0.00001
NM_015509.4(NECAP1):c.331A>G (p.Thr111Ala) rs754771825 0.00001
NM_015509.4(NECAP1):c.352G>A (p.Asp118Asn) rs755866954 0.00001
NM_015509.4(NECAP1):c.376C>T (p.His126Tyr) rs775899740 0.00001
NM_015509.4(NECAP1):c.39G>T (p.Val13=) rs1947446999 0.00001
NM_015509.4(NECAP1):c.430G>A (p.Asp144Asn) rs1219581866 0.00001
NM_015509.4(NECAP1):c.487A>G (p.Ile163Val) rs1477942819 0.00001
NM_015509.4(NECAP1):c.516T>C (p.Gly172=) rs748624358 0.00001
NM_015509.4(NECAP1):c.518C>T (p.Ala173Val) rs770195923 0.00001
NM_015509.4(NECAP1):c.546G>A (p.Gly182=) rs1327798217 0.00001
NM_015509.4(NECAP1):c.595C>T (p.Pro199Ser) rs1340615210 0.00001
NM_015509.4(NECAP1):c.640C>T (p.Pro214Ser) rs3203835 0.00001
NM_015509.4(NECAP1):c.648G>A (p.Pro216=) rs370869772 0.00001
NM_015509.4(NECAP1):c.653C>A (p.Ser218Tyr) rs371472296 0.00001
NM_015509.4(NECAP1):c.713C>T (p.Thr238Met) rs763248083 0.00001
NM_015509.4(NECAP1):c.727A>G (p.Thr243Ala) rs752197558 0.00001
NM_015509.4(NECAP1):c.746A>G (p.Asn249Ser) rs776221234 0.00001
NM_015509.4(NECAP1):c.758G>A (p.Gly253Glu) rs765737930 0.00001
NM_015509.4(NECAP1):c.772G>A (p.Ala258Thr) rs898607958 0.00001
NM_015509.4(NECAP1):c.77C>T (p.Ala26Val) rs1258379215 0.00001
NM_015509.4(NECAP1):c.812A>G (p.Asn271Ser) rs763046716 0.00001
NM_015509.4(NECAP1):c.83A>T (p.Asn28Ile) rs1591593478 0.00001
NM_015509.4(NECAP1):c.88G>A (p.Gly30Ser) rs147832660 0.00001
NM_015509.4(NECAP1):c.95+11C>T rs1390115604 0.00001
NM_015509.4(NECAP1):c.95+16C>T rs372167429 0.00001
NM_016373.4(WWOX):c.172+1G>C rs1377640182 0.00001
NM_016373.4(WWOX):c.228T>C (p.Val76=) rs370579498 0.00001
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser) rs770001837 0.00001
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys) rs780345312 0.00001
NM_016373.4(WWOX):c.500G>A (p.Arg167His) rs377356629 0.00001
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu) rs761638116 0.00001
NM_016373.4(WWOX):c.605+5G>A rs1039151413 0.00001
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser) rs746833923 0.00001
NM_016373.4(WWOX):c.995A>C (p.His332Pro) rs775584864 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.1072C>G (p.Leu358Val) rs200514600 0.00001
NM_020708.5(SLC12A5):c.1101G>T (p.Val367=) rs745635839 0.00001
NM_020708.5(SLC12A5):c.1156G>A (p.Asp386Asn) rs200798560 0.00001
NM_020708.5(SLC12A5):c.1203C>T (p.Thr401=) rs1357953426 0.00001
NM_020708.5(SLC12A5):c.125G>A (p.Gly42Asp) rs1281331190 0.00001
NM_020708.5(SLC12A5):c.1306A>G (p.Ile436Val) rs140326431 0.00001
NM_020708.5(SLC12A5):c.1308C>T (p.Ile436=) rs1366527252 0.00001
NM_020708.5(SLC12A5):c.1318G>A (p.Ala440Thr) rs769231047 0.00001
NM_020708.5(SLC12A5):c.1333G>A (p.Val445Ile) rs1600597599 0.00001
NM_020708.5(SLC12A5):c.1369A>G (p.Ile457Val) rs772414812 0.00001
NM_020708.5(SLC12A5):c.1380C>T (p.Val460=) rs2084571064 0.00001
NM_020708.5(SLC12A5):c.1395-3C>T rs760459724 0.00001
NM_020708.5(SLC12A5):c.1402G>A (p.Glu468Lys) rs564134718 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.1570-3C>G rs1371403151 0.00001
NM_020708.5(SLC12A5):c.1590C>T (p.Ala530=) rs2084590822 0.00001
NM_020708.5(SLC12A5):c.1619T>C (p.Leu540Pro) rs149824011 0.00001
NM_020708.5(SLC12A5):c.1636G>C (p.Glu546Gln) rs1364136088 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.1975C>T (p.Arg659Cys) rs1173713421 0.00001
NM_020708.5(SLC12A5):c.1983G>A (p.Glu661=) rs1179563553 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.2041G>A (p.Asp681Asn) rs753266125 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.2143T>C (p.Phe715Leu) rs890647462 0.00001
NM_020708.5(SLC12A5):c.2163G>A (p.Gln721=) rs1423882969 0.00001
NM_020708.5(SLC12A5):c.2165C>T (p.Ala722Val) rs1301239632 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.2191C>T (p.Arg731Cys) rs1197752454 0.00001
NM_020708.5(SLC12A5):c.2252G>A (p.Arg751His) rs377709894 0.00001
NM_020708.5(SLC12A5):c.2296C>A (p.Leu766Met) rs753106879 0.00001
NM_020708.5(SLC12A5):c.2377+19G>T rs759266825 0.00001
NM_020708.5(SLC12A5):c.2377+5C>T rs903951175 0.00001
NM_020708.5(SLC12A5):c.2378-20C>G rs377253900 0.00001
NM_020708.5(SLC12A5):c.2387G>A (p.Arg796Gln) rs1365579102 0.00001
NM_020708.5(SLC12A5):c.2431G>A (p.Val811Ile) rs201152687 0.00001
NM_020708.5(SLC12A5):c.2459G>A (p.Arg820His) rs1179723675 0.00001
NM_020708.5(SLC12A5):c.2541C>A (p.His847Gln) rs1190180234 0.00001
NM_020708.5(SLC12A5):c.2547+16G>C rs755275909 0.00001
NM_020708.5(SLC12A5):c.2554C>T (p.Arg852Trp) rs1332402437 0.00001
NM_020708.5(SLC12A5):c.2658G>A (p.Ala886=) rs546939045 0.00001
NM_020708.5(SLC12A5):c.2678T>C (p.Met893Thr) rs200461513 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.2735G>A (p.Arg912His) rs764216462 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.2846C>T (p.Thr949Met) rs758888959 0.00001
NM_020708.5(SLC12A5):c.2877G>A (p.Thr959=) rs771915911 0.00001
NM_020708.5(SLC12A5):c.2879C>G (p.Ala960Gly) rs775224780 0.00001
NM_020708.5(SLC12A5):c.2880T>C (p.Ala960=) rs760701805 0.00001
NM_020708.5(SLC12A5):c.2885A>G (p.Asp962Gly) rs1284519025 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.2933G>A (p.Ser978Asn) rs1216388861 0.00001
NM_020708.5(SLC12A5):c.2942G>A (p.Ser981Asn) rs2084694133 0.00001
NM_020708.5(SLC12A5):c.3002C>G (p.Pro1001Arg) rs749426883 0.00001
NM_020708.5(SLC12A5):c.3062C>T (p.Pro1021Leu) rs1206199358 0.00001
NM_020708.5(SLC12A5):c.306C>T (p.Gly102=) rs907254238 0.00001
NM_020708.5(SLC12A5):c.3110+4C>T rs781152138 0.00001
NM_020708.5(SLC12A5):c.3120G>A (p.Glu1040=) rs761882854 0.00001
NM_020708.5(SLC12A5):c.3131A>T (p.Gln1044Leu) rs529949253 0.00001
NM_020708.5(SLC12A5):c.3143G>A (p.Arg1048Gln) rs1291356001 0.00001
NM_020708.5(SLC12A5):c.3145C>T (p.Arg1049Cys) rs548424453 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.3242G>T (p.Arg1081Leu) rs376095009 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.3325C>T (p.Arg1109Cys) rs1568870063 0.00001
NM_020708.5(SLC12A5):c.3330G>A (p.Glu1110=) rs1394912099 0.00001
NM_020708.5(SLC12A5):c.336T>G (p.Phe112Leu) rs2084493854 0.00001
NM_020708.5(SLC12A5):c.340G>A (p.Val114Ile) rs760750912 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.52G>A (p.Gly18Ser) rs1399171674 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.692G>A (p.Arg231His) rs1555863134 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.908C>G (p.Ala303Gly) rs751140061 0.00001
NM_020708.5(SLC12A5):c.916G>A (p.Ala306Thr) rs2084545554 0.00001
NM_020708.5(SLC12A5):c.937G>A (p.Val313Met) rs138569099 0.00001
NM_020708.5(SLC12A5):c.969C>T (p.Ser323=) rs1186052510 0.00001
NM_020708.5(SLC12A5):c.974G>A (p.Arg325His) rs751583991 0.00001
NM_020708.5(SLC12A5):c.97G>A (p.Asp33Asn) rs534826231 0.00001
NM_020708.5(SLC12A5):c.981C>G (p.Leu327=) rs1246713640 0.00001
NM_020708.5(SLC12A5):c.983A>G (p.Asn328Ser) rs2084546554 0.00001
NM_020708.5(SLC12A5):c.984C>T (p.Asn328=) rs754526924 0.00001
NM_020708.5(SLC12A5):c.985G>A (p.Ala329Thr) rs767192319 0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val) rs532178791 0.00001
NM_024818.6(UBA5):c.181C>T (p.Arg61Ter) rs886039756 0.00001
NM_024818.6(UBA5):c.684G>A (p.Ala228=) rs1313071575 0.00001
NM_177550.5(SLC13A5):c.1002C>A (p.Asp334Glu) rs765942920 0.00001
NM_177550.5(SLC13A5):c.1017C>T (p.Pro339=) rs200365614 0.00001
NM_177550.5(SLC13A5):c.102+8G>C rs765725969 0.00001
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter) rs150203483 0.00001
NM_177550.5(SLC13A5):c.1033G>T (p.Ala345Ser) rs776529961 0.00001
NM_177550.5(SLC13A5):c.1065C>T (p.Ser355=) rs140940366 0.00001
NM_177550.5(SLC13A5):c.1066G>A (p.Asp356Asn) rs151050636 0.00001
NM_177550.5(SLC13A5):c.106G>A (p.Val36Ile) rs1354071715 0.00001
NM_177550.5(SLC13A5):c.1106T>C (p.Ile369Thr) rs773383980 0.00001
NM_177550.5(SLC13A5):c.1125C>T (p.Pro375=) rs1483419923 0.00001
NM_177550.5(SLC13A5):c.1156+15C>G rs367721453 0.00001
NM_177550.5(SLC13A5):c.1163A>G (p.Lys388Arg) rs1423476132 0.00001
NM_177550.5(SLC13A5):c.1166C>T (p.Thr389Ile) rs748877090 0.00001
NM_177550.5(SLC13A5):c.1188G>A (p.Leu396=) rs570830621 0.00001
NM_177550.5(SLC13A5):c.1221C>T (p.Pro407=) rs547474199 0.00001
NM_177550.5(SLC13A5):c.1240C>T (p.Leu414=) rs1206208725 0.00001
NM_177550.5(SLC13A5):c.1272C>T (p.Ser424=) rs368030315 0.00001
NM_177550.5(SLC13A5):c.1276-17C>T rs1973392872 0.00001
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu) rs548065551 0.00001
NM_177550.5(SLC13A5):c.1286T>G (p.Leu429Arg) rs1231356601 0.00001
NM_177550.5(SLC13A5):c.1309A>T (p.Met437Leu) rs980479909 0.00001
NM_177550.5(SLC13A5):c.1318T>C (p.Leu440=) rs1341974633 0.00001
NM_177550.5(SLC13A5):c.1323C>T (p.His441=) rs368369308 0.00001
NM_177550.5(SLC13A5):c.132C>T (p.Leu44=) rs1258344040 0.00001
NM_177550.5(SLC13A5):c.1336G>C (p.Ala446Pro) rs1399161589 0.00001
NM_177550.5(SLC13A5):c.134T>C (p.Met45Thr) rs1208101006 0.00001
NM_177550.5(SLC13A5):c.1396G>A (p.Val466Met) rs750791192 0.00001
NM_177550.5(SLC13A5):c.1407C>A (p.Thr469=) rs1488808458 0.00001
NM_177550.5(SLC13A5):c.1438-18del rs759057646 0.00001
NM_177550.5(SLC13A5):c.1438-5C>T rs368120301 0.00001
NM_177550.5(SLC13A5):c.1454T>G (p.Leu485Arg) rs148049520 0.00001
NM_177550.5(SLC13A5):c.1460C>T (p.Pro487Leu) rs779336736 0.00001
NM_177550.5(SLC13A5):c.1508T>C (p.Met503Thr) rs765088400 0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu) rs936922976 0.00001
NM_177550.5(SLC13A5):c.1530A>G (p.Pro510=) rs762703163 0.00001
NM_177550.5(SLC13A5):c.1540G>A (p.Val514Met) rs201089077 0.00001
NM_177550.5(SLC13A5):c.1541T>C (p.Val514Ala) rs776701159 0.00001
NM_177550.5(SLC13A5):c.1575+10C>A rs576242281 0.00001
NM_177550.5(SLC13A5):c.1575+12G>A rs748598074 0.00001
NM_177550.5(SLC13A5):c.1575+5C>T rs778223098 0.00001
NM_177550.5(SLC13A5):c.1629T>C (p.Ala543=) rs766561824 0.00001
NM_177550.5(SLC13A5):c.1646G>A (p.Arg549Gln) rs373799811 0.00001
NM_177550.5(SLC13A5):c.1689G>A (p.Val563=) rs1567612268 0.00001
NM_177550.5(SLC13A5):c.1691C>T (p.Thr564Ile) rs771551520 0.00001
NM_177550.5(SLC13A5):c.186G>A (p.Met62Ile) rs144640152 0.00001
NM_177550.5(SLC13A5):c.202C>T (p.Pro68Ser) rs746055240 0.00001
NM_177550.5(SLC13A5):c.208T>C (p.Phe70Leu) rs1458426377 0.00001
NM_177550.5(SLC13A5):c.264G>A (p.Met88Ile) rs1414544534 0.00001
NM_177550.5(SLC13A5):c.276C>T (p.Gly92=) rs771703938 0.00001
NM_177550.5(SLC13A5):c.279C>G (p.Gly93=) rs1253377106 0.00001
NM_177550.5(SLC13A5):c.292G>A (p.Val98Met) rs529524270 0.00001
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His) rs764688100 0.00001
NM_177550.5(SLC13A5):c.317A>G (p.His106Arg) rs762062274 0.00001
NM_177550.5(SLC13A5):c.327C>T (p.Ile109=) rs761010502 0.00001
NM_177550.5(SLC13A5):c.335G>A (p.Arg112His) rs772720272 0.00001
NM_177550.5(SLC13A5):c.358A>G (p.Lys120Glu) rs777351597 0.00001
NM_177550.5(SLC13A5):c.361C>A (p.Pro121Thr) rs368701407 0.00001
NM_177550.5(SLC13A5):c.369-13C>T rs1387018006 0.00001
NM_177550.5(SLC13A5):c.369-9C>A rs1301686731 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NM_177550.5(SLC13A5):c.453C>T (p.Ile151=) rs144523287 0.00001
NM_177550.5(SLC13A5):c.466T>C (p.Leu156=) rs1284550674 0.00001
NM_177550.5(SLC13A5):c.468G>T (p.Leu156Phe) rs774491349 0.00001
NM_177550.5(SLC13A5):c.490G>A (p.Ala164Thr) rs769026137 0.00001
NM_177550.5(SLC13A5):c.496A>G (p.Thr166Ala) rs1415995914 0.00001
NM_177550.5(SLC13A5):c.502G>A (p.Ala168Thr) rs1555542943 0.00001
NM_177550.5(SLC13A5):c.516G>A (p.Leu172=) rs1164489091 0.00001
NM_177550.5(SLC13A5):c.52T>C (p.Phe18Leu) rs1249830087 0.00001
NM_177550.5(SLC13A5):c.547+15A>G rs200767134 0.00001
NM_177550.5(SLC13A5):c.547+6C>T rs372687638 0.00001
NM_177550.5(SLC13A5):c.548-2A>G rs966681982 0.00001
NM_177550.5(SLC13A5):c.555A>G (p.Gln185=) rs752221899 0.00001
NM_177550.5(SLC13A5):c.569G>A (p.Gly190Asp) rs766313348 0.00001
NM_177550.5(SLC13A5):c.576T>C (p.Thr192=) rs1274573548 0.00001
NM_177550.5(SLC13A5):c.581G>A (p.Gly194Glu) rs772459786 0.00001
NM_177550.5(SLC13A5):c.618_626dup (p.Ala207_Thr209dup) rs1490001751 0.00001
NM_177550.5(SLC13A5):c.645G>A (p.Ala215=) rs771306101 0.00001
NM_177550.5(SLC13A5):c.650G>A (p.Ser217Asn) rs1200030293 0.00001
NM_177550.5(SLC13A5):c.674C>T (p.Thr225Ile) rs182042247 0.00001
NM_177550.5(SLC13A5):c.689A>G (p.Asn230Ser) rs760650951 0.00001
NM_177550.5(SLC13A5):c.691G>A (p.Val231Met) rs759705331 0.00001
NM_177550.5(SLC13A5):c.699C>T (p.Leu233=) rs200076864 0.00001
NM_177550.5(SLC13A5):c.69G>T (p.Leu23=) rs1280438112 0.00001
NM_177550.5(SLC13A5):c.702G>C (p.Leu234=) rs1353818031 0.00001
NM_177550.5(SLC13A5):c.712A>G (p.Asn238Asp) rs747576233 0.00001
NM_177550.5(SLC13A5):c.717-16C>T rs558529852 0.00001
NM_177550.5(SLC13A5):c.717-6T>C rs779832945 0.00001
NM_177550.5(SLC13A5):c.742G>A (p.Val248Met) rs1295906896 0.00001
NM_177550.5(SLC13A5):c.861C>T (p.Cys287=) rs148018915 0.00001
NM_177550.5(SLC13A5):c.873C>T (p.Ser291=) rs767067775 0.00001
NM_177550.5(SLC13A5):c.901G>A (p.Val301Met) rs1973547380 0.00001
NM_177550.5(SLC13A5):c.942C>T (p.Phe314=) rs546617630 0.00001
NM_177550.5(SLC13A5):c.944C>T (p.Ala315Val) rs138841868 0.00001
NM_177550.5(SLC13A5):c.954C>T (p.Asn318=) rs764495638 0.00001
NM_177550.5(SLC13A5):c.955G>A (p.Val319Met) rs199612064 0.00001
NM_177550.5(SLC13A5):c.970T>C (p.Phe324Leu) rs146116408 0.00001
NM_177550.5(SLC13A5):c.991T>A (p.Phe331Ile) rs142301014 0.00001
GRCh37/hg19 16q23.1(chr16:78143268-78154701)
GRCh37/hg19 16q23.1(chr16:78198080-78198186)
GRCh37/hg19 16q23.1(chr16:78409180-78431277)
GRCh37/hg19 16q23.1(chr16:78458767-78458953)
GRCh37/hg19 16q23.1(chr16:78458774-78463512)
GRCh37/hg19 19p13.2(chr19:13418596-13419188)x1
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1
GRCh37/hg19 2q31.1(chr2:172644081-172644457)
GRCh38/hg38 16q23.1(chr16:78099236-78100272)x0
GRCh38/hg38 16q23.1(chr16:78330637-78461650)x0
GRCh38/hg38 17p13.1(chr17:6690682-6696039)x0
GRCh38/hg38 2q31.1(chr2:171833866-171844606)x0
NC_000001.10:g.(?_110603355)_(111147404_?)del
NC_000001.11:g.(?_110593873)_(110604802_?)del
NC_000009.11:g.(?_129376729)_(131016993_?)del
NC_000009.11:g.(?_130374683)_(131329276_?)del
NC_000009.11:g.(?_130928476)_(131004634_?)dup
NC_000009.11:g.(?_130965750)_(131016993_?)dup
NC_000009.11:g.(?_130980490)_(130996406_?)del
NC_000009.11:g.(?_131016913)_(131016993_?)del
NC_000009.12:g.(?_128203451)_(128203651_?)dup
NC_000009.12:g.(?_128234001)_(128234127_?)del
NC_000009.12:g.(?_128242212)_(128247506_?)del
NC_000012.11:g.(?_6945914)_(9027627_?)dup
NC_000012.11:g.(?_7053285)_(9027607_?)del
NC_000012.11:g.(?_8211333)_(8248686_?)dup
NC_000012.11:g.(?_8248177)_(8248319_?)del
NC_000012.11:g.52199766_52388207del
NC_000012.12:g.(?_7689858)_(8096110_?)dup
NC_000015.10:g.51681311_51791472dup
NC_000016.10:c.(605+1_606-1)_(1056+1_1057-1)dup
NC_000016.10:g.77893032_78561479dup
NC_000016.10:g.78152047_78188346del
NC_000016.9:g.78159969_78320350del
NC_000017.10:g.(?_5289526)_(6616652_?)dup
NC_000017.10:g.(?_6328760)_(6616672_?)del
NC_000017.10:g.(?_6328780)_(7128416_?)dup
NC_000017.10:g.(?_6607177)_(6607395_?)del
NC_000017.10:g.(?_6607177)_(6610495_?)del
NC_000017.10:g.(?_6607177)_(6616652_?)dup
NC_000017.10:g.(?_6609941)_(6616652_?)del
NC_000017.10:g.(?_6616531)_(6616672_?)del
NC_000017.11:g.(?_6686187)_(6713353_?)del
NC_000017.11:g.(?_6686187)_(6713353_?)dup
NC_000017.11:g.6702964ACTC[3]
NC_000019.10:g.(?_13259544)_(13259721_?)del
NC_000019.10:g.(?_13275830)_(13277148_?)del
NC_000019.10:g.(?_13298534)_(13300666_?)del
NC_000019.10:g.(?_13300530)_(13300676_?)del
NC_000019.10:g.(?_13359586)_(13359819_?)del
NC_000019.10:g.(?_49861228)_(49861901_?)del
NC_000019.10:g.(?_49861228)_(49867224_?)dup
NC_000019.9:g.(13470614_13476130)_(13566027_13616745)dup
NC_000019.9:g.(?_10828919)_(13482613_?)dup
NC_000019.9:g.(?_12651855)_(13373667_?)del
NC_000019.9:g.(?_12757434)_(13387962_?)dup
NC_000019.9:g.(?_12757434)_(13617038_?)del
NC_000019.9:g.(?_13135448)_(13419362_?)dup
NC_000019.9:g.(?_13135448)_(13574132_?)dup
NC_000019.9:g.(?_13249921)_(13318882_?)dup
NC_000019.9:g.(?_13316256)_(13618274_?)dup
NC_000019.9:g.(?_13318860)_(13321486_?)dup
NC_000019.9:g.(?_13318860)_(13325442_?)del
NC_000019.9:g.(?_13318860)_(13325442_?)dup
NC_000019.9:g.(?_13318860)_(13363935_?)dup
NC_000019.9:g.(?_13335461)_(13342694_?)del
NC_000019.9:g.(?_13338225)_(13342694_?)del
NC_000019.9:g.(?_13339493)_(13341043_?)del
NC_000019.9:g.(?_13339493)_(13373667_?)del
NC_000019.9:g.(?_13340886)_(13342684_?)del
NC_000019.9:g.(?_13342504)_(13342694_?)del
NC_000019.9:g.(?_13355976)_(13356099_?)del
NC_000019.9:g.(?_13363785)_(13363935_?)del
NC_000019.9:g.(?_13368144)_(13368385_?)del
NC_000019.9:g.(?_13370358)_(13373667_?)del
NC_000019.9:g.(?_13372244)_(13373667_?)dup
NC_000019.9:g.(?_13386644)_(13386790_?)del
NC_000019.9:g.(?_13394061)_(13397800_?)del
NC_000019.9:g.(?_13409338)_(13411490_?)del
NC_000019.9:g.(?_13414350)_(13418678_?)del
NC_000019.9:g.(?_13418576)_(13419362_?)del
NC_000019.9:g.(?_13418576)_(13423615_?)del
NC_000019.9:g.(?_13427906)_(13617038_?)del
NC_000019.9:g.(?_13445172)_(13446743_?)del
NC_000019.9:g.(?_13445172)_(13446743_?)dup
NC_000019.9:g.(?_13470400)_(13482613_?)del
NC_000019.9:g.(?_13474954)_(13476240_?)del
NC_000019.9:g.(?_13476111)_(13476303_?)del
NC_000019.9:g.(?_13563670)_(13574132_?)del
NC_000019.9:g.(?_49519325)_(50366015_?)dup
NC_000019.9:g.(?_49713446)_(50413064_?)dup
NC_000019.9:g.(?_50331686)_(50367680_?)del
NC_000019.9:g.(?_50364485)_(50370481_?)del
NC_000019.9:g.(?_50366993)_(50370363_?)del
NC_000020.10:g.(8094049_8094072)_(8580261_8580284)del
NC_000020.10:g.(?_47989520)_(47991549_?)dup
NC_000020.10:g.(?_48098431)_(48099017_?)dup
NC_000020.10:g.(?_60831241)_(62664346_?)dup
NC_000020.10:g.(?_60831241)_(62680869_?)dup
NC_000020.10:g.(?_61448417)_(62124660_?)del
NC_000020.10:g.(?_61977556)_(62159505_?)del
NC_000020.10:g.(?_61978090)_(62562921_?)dup
NC_000020.10:g.(?_62062673)_(62127408_?)del
NC_000020.10:g.(?_62081939)_(62119720_?)del
NC_000020.10:g.(?_62103511)_(62120515_?)del
NC_000020.10:g.(?_62119631)_62159505del
NC_000020.10:g.(?_62119651)_(62159505_?)del
NC_000020.10:g.(?_62127189)_(62129116_?)dup
NC_000020.10:g.(?_7812350)_(10654278_?)del
NC_000020.10:g.(?_8113279)_(8352117_?)del
NC_000020.10:g.(?_8113279)_(8352117_?)dup
NC_000020.10:g.(?_8113279)_(8862516_?)dup
NC_000020.10:g.(?_8113299)_(8352107_?)dup
NC_000020.10:g.(?_8113299)_(8352117_?)del
NC_000020.10:g.(?_8113299)_(8352117_?)dup
NC_000020.10:g.(?_8608921)_(8609098_?)del
NC_000020.10:g.(?_8608921)_(8862496_?)dup
NC_000020.10:g.(?_8608931)_(8639361_?)del
NC_000020.10:g.(?_8630001)_(8637951_?)del
NC_000020.10:g.(?_8639165)_(8698515_?)del
NC_000020.10:g.(?_8661338)_(8678351_?)del
NC_000020.10:g.(?_8665559)_(8770928_?)dup
NC_000020.10:g.(?_8696891)_(8698515_?)del
NC_000020.10:g.(?_8696891)_(8862496_?)dup
NC_000020.10:g.(?_8782683)_(8862516_?)dup
NC_000020.10:g.(?_8862249)_(8862516_?)dup
NC_000020.11:g.(?_46021746)_(46057625_?)del
NC_000020.11:g.(?_46045858)_(46046456_?)del
NC_000020.11:g.(?_48921870)_(49482500_?)del
NC_000020.11:g.(?_49372963)_(49375012_?)del
NC_000020.11:g.(?_63438605)_(63488445_?)del
NC_000020.11:g.(?_63444639)_(63528152_?)del
NC_000020.11:g.(?_63493117)_(63528152_?)del
NC_000020.11:g.(?_8371362)_(8371470_?)del
NC_000020.11:g.(?_8646082)_(8881869_?)dup
NC_000020.11:g.(?_8684912)_(8685098_?)del
NC_000020.11:g.(?_8684912)_(8881869_?)dup
NC_000020.11:g.(?_8757026)_(8881869_?)dup
NC_000020.11:g.49212886_49410642dup
NC_000020.11:g.8722354_8722356del rs1979690177
NM_000812.4(GABRB1):c.1243G>C (p.Gly415Arg)
NM_000812.4(GABRB1):c.1399G>T (p.Val467Phe)
NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp) rs1135401786
NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser) rs775749394
NM_000812.4(GABRB1):c.618C>T (p.Ile206=)
NM_000812.4(GABRB1):c.629A>G (p.Gln210Arg) rs1728466964
NM_000812.4(GABRB1):c.737T>C (p.Phe246Ser) rs886039817
NM_000812.4(GABRB1):c.740T>C (p.Ile247Thr) rs1728474004
NM_000812.4(GABRB1):c.74C>G (p.Ala25Gly)
NM_000812.4(GABRB1):c.757C>T (p.Pro253Ser) rs2110051822
NM_000812.4(GABRB1):c.80+24_80+25del rs72416056
NM_000812.4(GABRB1):c.846A>G (p.Thr282=) rs6289
NM_000812.4(GABRB1):c.854C>A (p.Thr285Lys) rs1728584859
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile) rs886039818
NM_000812.4(GABRB1):c.898A>T (p.Ile300Phe)
NM_000836.4(GRIN2D):c.1033G>A (p.Gly345Ser)
NM_000836.4(GRIN2D):c.1114C>T (p.Arg372Trp)
NM_000836.4(GRIN2D):c.1126T>C (p.Phe376Leu)
NM_000836.4(GRIN2D):c.1282G>A (p.Asp428Asn)
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn) rs1569064110
NM_000836.4(GRIN2D):c.1556G>A (p.Gly519Asp)
NM_000836.4(GRIN2D):c.1605G>T (p.Met535Ile) rs1390364278
NM_000836.4(GRIN2D):c.1718C>T (p.Ser573Phe) rs2147452753
NM_000836.4(GRIN2D):c.1724C>T (p.Ser575Leu) rs1970945661
NM_000836.4(GRIN2D):c.1751C>T (p.Ala584Val)
NM_000836.4(GRIN2D):c.181G>C (p.Ala61Pro)
NM_000836.4(GRIN2D):c.191C>T (p.Ala64Val)
NM_000836.4(GRIN2D):c.1997C>T (p.Ala666Val) rs2147455888
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_000836.4(GRIN2D):c.199G>A (p.Ala67Thr) rs2147434362
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe) rs1600982189
NM_000836.4(GRIN2D):c.2023G>A (p.Ala675Thr) rs1970995171
NM_000836.4(GRIN2D):c.2024C>T (p.Ala675Val) rs1600982197
NM_000836.4(GRIN2D):c.2029C>G (p.Leu677Val) rs901526282
NM_000836.4(GRIN2D):c.2033C>A (p.Ala678Asp) rs2147455922
NM_000836.4(GRIN2D):c.2043G>C (p.Met681Ile) rs1569065861
NM_000836.4(GRIN2D):c.2080A>C (p.Ser694Arg) rs1569065866
NM_000836.4(GRIN2D):c.2330C>T (p.Thr777Ile)
NM_000836.4(GRIN2D):c.2356A>G (p.Thr786Ala) rs1971296612
NM_000836.4(GRIN2D):c.2393G>A (p.Arg798His)
NM_000836.4(GRIN2D):c.2462G>A (p.Arg821Gln)
NM_000836.4(GRIN2D):c.2533A>G (p.Met845Val) rs2147475435
NM_000836.4(GRIN2D):c.2695_2697delinsACC (p.Ala899Thr)
NM_000836.4(GRIN2D):c.2777C>T (p.Ala926Val)
NM_000836.4(GRIN2D):c.2791C>G (p.Pro931Ala)
NM_000836.4(GRIN2D):c.2858G>C (p.Gly953Ala)
NM_000836.4(GRIN2D):c.2867G>T (p.Gly956Val)
NM_000836.4(GRIN2D):c.2957G>T (p.Gly986Val)
NM_000836.4(GRIN2D):c.3022T>C (p.Phe1008Leu) rs2147476513
NM_000836.4(GRIN2D):c.3025G>T (p.Ala1009Ser)
NM_000836.4(GRIN2D):c.3220C>A (p.Pro1074Thr)
NM_000836.4(GRIN2D):c.3235G>T (p.Ala1079Ser)
NM_000836.4(GRIN2D):c.3242G>A (p.Gly1081Asp)
NM_000836.4(GRIN2D):c.3340G>A (p.Asp1114Asn)
NM_000836.4(GRIN2D):c.3340GACTCGGAG[3] (p.1114DSE[3]) rs749701862
NM_000836.4(GRIN2D):c.3422A>T (p.Tyr1141Phe)
NM_000836.4(GRIN2D):c.3431G>C (p.Arg1144Pro)
NM_000836.4(GRIN2D):c.3524C>T (p.Pro1175Leu) rs2147477588
NM_000836.4(GRIN2D):c.3706_3723del (p.Pro1236_Arg1241del) rs903787363
NM_000836.4(GRIN2D):c.3812C>T (p.Ser1271Leu) rs1971341588
NM_000836.4(GRIN2D):c.3847C>T (p.Pro1283Ser)
NM_000836.4(GRIN2D):c.3854_3855del (p.Arg1285fs)
NM_000836.4(GRIN2D):c.3910G>A (p.Gly1304Arg)
NM_000836.4(GRIN2D):c.3910G>T (p.Gly1304Trp)
NM_000836.4(GRIN2D):c.3929C>T (p.Ala1310Val) rs753854352
NM_000836.4(GRIN2D):c.3937C>T (p.Arg1313Trp) rs2147478270
NM_000836.4(GRIN2D):c.3947G>T (p.Arg1316Leu) rs544435291
NM_000836.4(GRIN2D):c.49CTG[5] (p.Leu20dup) rs919633142
NM_000836.4(GRIN2D):c.4C>A (p.Arg2Ser)
NM_000836.4(GRIN2D):c.763C>G (p.Pro255Ala)
NM_001033044.4(GLUL):c.-13-1G>A
NM_001033044.4(GLUL):c.-13-2A>G rs2101936731
NM_001033044.4(GLUL):c.1A>C (p.Met1Leu)
NM_001033044.4(GLUL):c.1A>G (p.Met1Val) rs1131691970
NM_001033044.4(GLUL):c.1A>T (p.Met1Leu) rs1131691970
NM_001127221.1(CACNA1A):c.6309_6311delGAG rs750511224
NM_001127221.2(CACNA1A):c.5532-2A>G
NM_001127221.2(CACNA1A):c.5532C>A (p.Cys1844Ter) rs765557914
NM_001127221.2(CACNA1A):c.5536C>T (p.Arg1846Trp)
NM_001127221.2(CACNA1A):c.5537G>A (p.Arg1846Gln) rs770936656
NM_001127221.2(CACNA1A):c.5537G>T (p.Arg1846Leu) rs770936656
NM_001127221.2(CACNA1A):c.5538G>T (p.Arg1846=) rs1600124326
NM_001127221.2(CACNA1A):c.5546A>T (p.Tyr1849Phe) rs1568440462
NM_001127221.2(CACNA1A):c.5551G>T (p.Asp1851Tyr)
NM_001127221.2(CACNA1A):c.5552A>G (p.Asp1851Gly) rs2055563143
NM_001127221.2(CACNA1A):c.5554A>G (p.Met1852Val) rs2144616837
NM_001127221.2(CACNA1A):c.5559_5560del (p.Tyr1853_Ser1854delinsTer) rs1568440440
NM_001127221.2(CACNA1A):c.5560A>G (p.Ser1854Gly)
NM_001127221.2(CACNA1A):c.5569C>G (p.Arg1857Gly)
NM_001127221.2(CACNA1A):c.5569C>T (p.Arg1857Ter) rs1296262946
NM_001127221.2(CACNA1A):c.5570G>A (p.Arg1857Gln) rs1246077018
NM_001127221.2(CACNA1A):c.5575A>G (p.Ile1859Val) rs1432354078
NM_001127221.2(CACNA1A):c.5581C>A (p.Pro1861Thr)
NM_001127221.2(CACNA1A):c.5582C>T (p.Pro1861Leu)
NM_001127221.2(CACNA1A):c.5583C>T (p.Pro1861=)
NM_001127221.2(CACNA1A):c.5585C>T (p.Pro1862Leu) rs2144616690
NM_001127221.2(CACNA1A):c.5586del (p.Leu1863fs) rs2144616676
NM_001127221.2(CACNA1A):c.5588_5589del (p.Leu1863fs) rs1431092862
NM_001127221.2(CACNA1A):c.5589C>T (p.Leu1863=) rs1266486228
NM_001127221.2(CACNA1A):c.5590G>A (p.Gly1864Ser) rs1001063428
NM_001127221.2(CACNA1A):c.5596G>A (p.Gly1866Ser) rs2144616611
NM_001127221.2(CACNA1A):c.5609C>T (p.Pro1870Leu)
NM_001127221.2(CACNA1A):c.5611C>T (p.His1871Tyr) rs2055560659
NM_001127221.2(CACNA1A):c.5613T>C (p.His1871=) rs201292159
NM_001127221.2(CACNA1A):c.5615G>C (p.Arg1872Thr)
NM_001127221.2(CACNA1A):c.5620G>A (p.Ala1874Thr) rs2055560379
NM_001127221.2(CACNA1A):c.6659_6660delinsGC (p.His2220Arg) rs1085307607
NM_001127222.2(CACNA1A):c.100G>C (p.Gly34Arg)
NM_001127222.2(CACNA1A):c.1014G>A (p.Leu338=)
NM_001127222.2(CACNA1A):c.1016A>G (p.Tyr339Cys)
NM_001127222.2(CACNA1A):c.101G>A (p.Gly34Glu)
NM_001127222.2(CACNA1A):c.1025C>G (p.Pro342Arg)
NM_001127222.2(CACNA1A):c.1026C>G (p.Pro342=) rs1412349338
NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met) rs779827819
NM_001127222.2(CACNA1A):c.1039G>A (p.Gly347Ser) rs977960069
NM_001127222.2(CACNA1A):c.1044C>T (p.Ser348=)
NM_001127222.2(CACNA1A):c.1054C>T (p.Leu352=)
NM_001127222.2(CACNA1A):c.1059C>A (p.Asn353Lys) rs1568546593
NM_001127222.2(CACNA1A):c.1067T>C (p.Leu356Pro) rs1568546568
NM_001127222.2(CACNA1A):c.1082+17C>T rs992037503
NM_001127222.2(CACNA1A):c.1082+19C>A
NM_001127222.2(CACNA1A):c.1082+1G>A rs1272886269
NM_001127222.2(CACNA1A):c.1082+20C>T
NM_001127222.2(CACNA1A):c.1083-12A>G
NM_001127222.2(CACNA1A):c.1083-20G>T
NM_001127222.2(CACNA1A):c.1088T>C (p.Phe363Ser)
NM_001127222.2(CACNA1A):c.1092C>T (p.Ala364=)
NM_001127222.2(CACNA1A):c.1105C>T (p.Arg369Trp) rs1057524457
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)
NM_001127222.2(CACNA1A):c.110G>A (p.Arg37Gln)
NM_001127222.2(CACNA1A):c.110_125dup (p.Gly43fs) rs2145192572
NM_001127222.2(CACNA1A):c.1118G>A (p.Arg373Gln) rs2145132803
NM_001127222.2(CACNA1A):c.1120C>A (p.Arg374=) rs2145132791
NM_001127222.2(CACNA1A):c.1120C>T (p.Arg374Trp)
NM_001127222.2(CACNA1A):c.1122G>A (p.Arg374=) rs2145132777
NM_001127222.2(CACNA1A):c.1139G>A (p.Arg380Lys)
NM_001127222.2(CACNA1A):c.1151A>G (p.Gln384Arg) rs2058521134
NM_001127222.2(CACNA1A):c.1154T>C (p.Ile385Thr)
NM_001127222.2(CACNA1A):c.1159C>T (p.Arg387Cys)
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro) rs2058520816
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys) rs768768744
NM_001127222.2(CACNA1A):c.1170T>C (p.Asn390=) rs768768744
NM_001127222.2(CACNA1A):c.1173G>T (p.Gly391=)
NM_001127222.2(CACNA1A):c.1197A>T (p.Ala399=)
NM_001127222.2(CACNA1A):c.1198+15T>C
NM_001127222.2(CACNA1A):c.1198+16C>A rs375761179
NM_001127222.2(CACNA1A):c.1198+1G>A rs1057518513
NM_001127222.2(CACNA1A):c.1198+5G>A rs1568544895
NM_001127222.2(CACNA1A):c.1199-12C>T
NM_001127222.2(CACNA1A):c.1199-17G>A
NM_001127222.2(CACNA1A):c.1199-7T>A rs2145126181
NM_001127222.2(CACNA1A):c.1200A>G (p.Glu400=) rs2145126158
NM_001127222.2(CACNA1A):c.1212C>T (p.Leu404=) rs540579196
NM_001127222.2(CACNA1A):c.1215C>G (p.Ala405=) rs1346992540
NM_001127222.2(CACNA1A):c.1215C>T (p.Ala405=) rs1346992540
NM_001127222.2(CACNA1A):c.1216G>A (p.Glu406Lys)
NM_001127222.2(CACNA1A):c.1218G>A (p.Glu406=)
NM_001127222.2(CACNA1A):c.1220A>C (p.Asp407Ala)
NM_001127222.2(CACNA1A):c.1220A>G (p.Asp407Gly) rs2058491087
NM_001127222.2(CACNA1A):c.1231G>T (p.Gly411Trp) rs1448345243
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)
NM_001127222.2(CACNA1A):c.1242G>T (p.Arg414Ser) rs763099796
NM_001127222.2(CACNA1A):c.1246C>T (p.Pro416Ser) rs371138043
NM_001127222.2(CACNA1A):c.1247_1248dup (p.Phe417fs) rs1600353301
NM_001127222.2(CACNA1A):c.1248del (p.Phe417fs)
NM_001127222.2(CACNA1A):c.124C>T (p.Pro42Ser) rs2145192584
NM_001127222.2(CACNA1A):c.1255+11T>C
NM_001127222.2(CACNA1A):c.1255+3A>G
NM_001127222.2(CACNA1A):c.1255+9T>C rs759656495
NM_001127222.2(CACNA1A):c.1256-10A>G
NM_001127222.2(CACNA1A):c.1256-19C>T rs1473736417
NM_001127222.2(CACNA1A):c.1256-6T>C
NM_001127222.2(CACNA1A):c.1277A>G (p.Lys426Arg) rs1225290298
NM_001127222.2(CACNA1A):c.1282A>T (p.Ser428Cys)
NM_001127222.2(CACNA1A):c.1282del (p.Ser428fs)
NM_001127222.2(CACNA1A):c.129G>C (p.Gly43=) rs758153051
NM_001127222.2(CACNA1A):c.1305C>G (p.Pro435=) rs376451601
NM_001127222.2(CACNA1A):c.1321C>T (p.Gln441Ter)
NM_001127222.2(CACNA1A):c.1322_1324del (p.Gln441del)
NM_001127222.2(CACNA1A):c.1323G>A (p.Gln441=)
NM_001127222.2(CACNA1A):c.1334_1335dup (p.Ala446Ter)
NM_001127222.2(CACNA1A):c.1337C>T (p.Ala446Val)
NM_001127222.2(CACNA1A):c.1345+12C>T
NM_001127222.2(CACNA1A):c.1345+15C>T
NM_001127222.2(CACNA1A):c.1345+1G>A rs2145114772
NM_001127222.2(CACNA1A):c.1345+4A>G
NM_001127222.2(CACNA1A):c.1345G>C (p.Gly449Arg) rs1194605924
NM_001127222.2(CACNA1A):c.1346-11T>C
NM_001127222.2(CACNA1A):c.1346-7C>G
NM_001127222.2(CACNA1A):c.1346-8C>T
NM_001127222.2(CACNA1A):c.1355del (p.Phe452fs)
NM_001127222.2(CACNA1A):c.1360C>T (p.Arg454Ter) rs886039668
NM_001127222.2(CACNA1A):c.1370T>A (p.Ile457Asn) rs768383869
NM_001127222.2(CACNA1A):c.1371T>C (p.Ile457=) rs762652214
NM_001127222.2(CACNA1A):c.1373A>T (p.Lys458Ile)
NM_001127222.2(CACNA1A):c.1379C>T (p.Ala460Val)
NM_001127222.2(CACNA1A):c.1387G>A (p.Glu463Lys)
NM_001127222.2(CACNA1A):c.1395G>C (p.Ser465=)
NM_001127222.2(CACNA1A):c.1395G>T (p.Ser465=) rs374307014
NM_001127222.2(CACNA1A):c.1397C>T (p.Thr466Ile)
NM_001127222.2(CACNA1A):c.1402T>C (p.Phe468Leu)
NM_001127222.2(CACNA1A):c.140T>A (p.Met47Lys)
NM_001127222.2(CACNA1A):c.1412dup (p.Glu472fs) rs1568528298
NM_001127222.2(CACNA1A):c.1413G>C (p.Lys471Asn) rs369920914
NM_001127222.2(CACNA1A):c.1416G>A (p.Glu472=) rs756358571
NM_001127222.2(CACNA1A):c.1418G>A (p.Arg473Lys) rs1401413921
NM_001127222.2(CACNA1A):c.1426C>T (p.Arg476Cys) rs2145051308
NM_001127222.2(CACNA1A):c.1434C>G (p.Tyr478Ter) rs767432719
NM_001127222.2(CACNA1A):c.1435A>G (p.Ile479Val)
NM_001127222.2(CACNA1A):c.1439del (p.Arg480fs) rs1555762908
NM_001127222.2(CACNA1A):c.1442G>T (p.Arg481Leu) rs763944721
NM_001127222.2(CACNA1A):c.1443C>T (p.Arg481=) rs2058145379
NM_001127222.2(CACNA1A):c.1444A>G (p.Met482Val) rs1555762900
NM_001127222.2(CACNA1A):c.1448T>A (p.Val483Asp)
NM_001127222.2(CACNA1A):c.1452A>G (p.Lys484=)
NM_001127222.2(CACNA1A):c.1461C>T (p.Ala487=)
NM_001127222.2(CACNA1A):c.1469G>A (p.Trp490Ter) rs1568528144
NM_001127222.2(CACNA1A):c.1470G>A (p.Trp490Ter)
NM_001127222.2(CACNA1A):c.1471A>C (p.Thr491Pro)
NM_001127222.2(CACNA1A):c.1472C>T (p.Thr491Ile)
NM_001127222.2(CACNA1A):c.1480A>G (p.Ser494Gly)
NM_001127222.2(CACNA1A):c.1494C>T (p.Leu498=)
NM_001127222.2(CACNA1A):c.1498A>G (p.Thr500Ala)
NM_001127222.2(CACNA1A):c.1500G>T (p.Thr500=) rs373192672
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) rs1555762855
NM_001127222.2(CACNA1A):c.1533C>A (p.Pro511=) rs751539123
NM_001127222.2(CACNA1A):c.1533C>T (p.Pro511=) rs751539123
NM_001127222.2(CACNA1A):c.1534G>C (p.Glu512Gln) rs375210532
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter) rs2058143736
NM_001127222.2(CACNA1A):c.1547A>C (p.Asp516Ala)
NM_001127222.2(CACNA1A):c.154A>G (p.Met52Val)
NM_001127222.2(CACNA1A):c.1555+15G>A
NM_001127222.2(CACNA1A):c.1555+17C>T
NM_001127222.2(CACNA1A):c.1555+2del rs1600313212
NM_001127222.2(CACNA1A):c.1555+3_1555+6del rs2058143459
NM_001127222.2(CACNA1A):c.1556-12_1556-10del
NM_001127222.2(CACNA1A):c.1556-4C>G
NM_001127222.2(CACNA1A):c.1556-4C>T rs1455004036
NM_001127222.2(CACNA1A):c.1556-5T>C
NM_001127222.2(CACNA1A):c.1556-9C>T
NM_001127222.2(CACNA1A):c.1577T>G (p.Leu526Ter) rs2145030772
NM_001127222.2(CACNA1A):c.157G>A (p.Ala53Thr)
NM_001127222.2(CACNA1A):c.1585T>C (p.Phe529Leu) rs2058058208
NM_001127222.2(CACNA1A):c.1586_1587del (p.Phe529fs) rs1555761603
NM_001127222.2(CACNA1A):c.1588A>G (p.Met530Val) rs374764234
NM_001127222.2(CACNA1A):c.1593C>A (p.Ser531=)
NM_001127222.2(CACNA1A):c.159G>A (p.Ala53=)
NM_001127222.2(CACNA1A):c.1602T>C (p.Phe534=)
NM_001127222.2(CACNA1A):c.1605A>T (p.Ile535=) rs1225327012
NM_001127222.2(CACNA1A):c.1615G>A (p.Gly539Arg) rs2145030587
NM_001127222.2(CACNA1A):c.1617del (p.Thr542fs)
NM_001127222.2(CACNA1A):c.1623G>T (p.Gly541=) rs375628894
NM_001127222.2(CACNA1A):c.1624A>T (p.Thr542Ser)
NM_001127222.2(CACNA1A):c.1625C>T (p.Thr542Met)
NM_001127222.2(CACNA1A):c.1628G>A (p.Arg543Gln)
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter) rs1427473572
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) rs2058057299
NM_001127222.2(CACNA1A):c.1663T>C (p.Cys555Arg) rs1600303388
NM_001127222.2(CACNA1A):c.1668+13G>C
NM_001127222.2(CACNA1A):c.1668+3A>G
NM_001127222.2(CACNA1A):c.1668+519_1842del
NM_001127222.2(CACNA1A):c.1668+7G>A rs567507041
NM_001127222.2(CACNA1A):c.1669-3T>C rs750090822
NM_001127222.2(CACNA1A):c.1669-7G>A
NM_001127222.2(CACNA1A):c.1669-7G>C
NM_001127222.2(CACNA1A):c.1669G>C (p.Val557Leu)
NM_001127222.2(CACNA1A):c.167C>G (p.Ala56Gly)
NM_001127222.2(CACNA1A):c.1680G>C (p.Gly560=) rs1600293357
NM_001127222.2(CACNA1A):c.1690G>A (p.Glu564Lys) rs1057519099
NM_001127222.2(CACNA1A):c.1695C>T (p.Val565=)
NM_001127222.2(CACNA1A):c.1697T>G (p.Ile566Ser)
NM_001127222.2(CACNA1A):c.169C>T (p.Arg57Trp) rs1982997781
NM_001127222.2(CACNA1A):c.1701G>A (p.Trp567Ter) rs1555759066
NM_001127222.2(CACNA1A):c.1706T>C (p.Val569Ala) rs2145005688
NM_001127222.2(CACNA1A):c.1708A>G (p.Ile570Val)
NM_001127222.2(CACNA1A):c.170G>A (p.Arg57Gln)
NM_001127222.2(CACNA1A):c.1719C>T (p.Gly573=)
NM_001127222.2(CACNA1A):c.1725C>G (p.Ser575=)
NM_001127222.2(CACNA1A):c.1735A>G (p.Ser579Gly) rs2145005615
NM_001127222.2(CACNA1A):c.1744C>T (p.Arg582Ter) rs2057953268
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1748C>T (p.Ala583Val) rs2145005553
NM_001127222.2(CACNA1A):c.174_176del (p.Met59del)
NM_001127222.2(CACNA1A):c.175A>G (p.Met59Val) rs1599396496
NM_001127222.2(CACNA1A):c.1767T>G (p.Ile589Met)
NM_001127222.2(CACNA1A):c.1770C>T (p.Phe590=) rs2145005492
NM_001127222.2(CACNA1A):c.1779A>G (p.Thr593=)
NM_001127222.2(CACNA1A):c.1781+17C>T
NM_001127222.2(CACNA1A):c.1781+3A>C
NM_001127222.2(CACNA1A):c.1781+7C>T rs202005119
NM_001127222.2(CACNA1A):c.1781A>C (p.Lys594Thr) rs2145005448
NM_001127222.2(CACNA1A):c.1782-14G>C rs2145004534
NM_001127222.2(CACNA1A):c.1782-17C>T
NM_001127222.2(CACNA1A):c.1782-19G>A rs745683117
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter) rs2057948502
NM_001127222.2(CACNA1A):c.1785C>T (p.Tyr595=) rs2057948502
NM_001127222.2(CACNA1A):c.1797C>T (p.Leu599=)
NM_001127222.2(CACNA1A):c.1805T>C (p.Leu602Pro) rs2057948232
NM_001127222.2(CACNA1A):c.180A>C (p.Ala60=) rs2145192414
NM_001127222.2(CACNA1A):c.1818C>G (p.Leu606=)
NM_001127222.2(CACNA1A):c.1819C>T (p.Leu607Phe) rs2057947991
NM_001127222.2(CACNA1A):c.1830G>A (p.Met610Ile) rs2145004244
NM_001127222.2(CACNA1A):c.1836dup (p.Ile613fs)
NM_001127222.2(CACNA1A):c.1839C>A (p.Ile613=) rs374686479
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met) rs374686479
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg) rs2057947681
NM_001127222.2(CACNA1A):c.184T>A (p.Tyr62Asn)
NM_001127222.2(CACNA1A):c.184T>C (p.Tyr62His)
NM_001127222.2(CACNA1A):c.1851G>C (p.Leu617Phe)
NM_001127222.2(CACNA1A):c.1857_1859dup (p.Leu620_Phe621insLeu)
NM_001127222.2(CACNA1A):c.185A>G (p.Tyr62Cys)
NM_001127222.2(CACNA1A):c.1862del (p.Phe621fs)
NM_001127222.2(CACNA1A):c.1866G>A (p.Leu622=)
NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe) rs2145004096
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile) rs1346036017
NM_001127222.2(CACNA1A):c.1881C>G (p.Phe627Leu)
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val) rs1600292507
NM_001127222.2(CACNA1A):c.1884C>A (p.Ala628=) rs2145003982
NM_001127222.2(CACNA1A):c.1888T>C (p.Leu630=)
NM_001127222.2(CACNA1A):c.1898A>G (p.Gln633Arg) rs2057946815
NM_001127222.2(CACNA1A):c.190C>T (p.Pro64Ser) rs1982996175
NM_001127222.2(CACNA1A):c.1910G>T (p.Gly637Val) rs121908246
NM_001127222.2(CACNA1A):c.1913+10T>A
NM_001127222.2(CACNA1A):c.1913+11C>T
NM_001127222.2(CACNA1A):c.1913+15G>A
NM_001127222.2(CACNA1A):c.1913+16G>T
NM_001127222.2(CACNA1A):c.1913+1G>A
NM_001127222.2(CACNA1A):c.1914-10_2172+10del
NM_001127222.2(CACNA1A):c.1914-15G>C
NM_001127222.2(CACNA1A):c.1914-20T>C
NM_001127222.2(CACNA1A):c.1914-5T>C rs2145002415
NM_001127222.2(CACNA1A):c.1914-7C>T rs2145002450
NM_001127222.2(CACNA1A):c.191C>T (p.Pro64Leu) rs2145192387
NM_001127222.2(CACNA1A):c.1923C>T (p.Phe641=)
NM_001127222.2(CACNA1A):c.1924G>A (p.Asp642Asn) rs2057938033
NM_001127222.2(CACNA1A):c.1940C>T (p.Pro647Leu) rs2057937902
NM_001127222.2(CACNA1A):c.1951G>A (p.Asp651Asn)
NM_001127222.2(CACNA1A):c.1956T>A (p.Thr652=)
NM_001127222.2(CACNA1A):c.1965A>T (p.Ala655=) rs1600291631
NM_001127222.2(CACNA1A):c.1969A>G (p.Ile657Val) rs375173544
NM_001127222.2(CACNA1A):c.1971A>T (p.Ile657=) rs2145002214
NM_001127222.2(CACNA1A):c.1973T>A (p.Met658Lys) rs2145002206
NM_001127222.2(CACNA1A):c.1975A>G (p.Thr659Ala) rs2145002197
NM_001127222.2(CACNA1A):c.1977G>T (p.Thr659=)
NM_001127222.2(CACNA1A):c.1978G>A (p.Val660Met) rs2145002166
NM_001127222.2(CACNA1A):c.1978_1980del (p.Val660del) rs2057937382
NM_001127222.2(CACNA1A):c.1986+14C>G
NM_001127222.2(CACNA1A):c.1986+16G>C
NM_001127222.2(CACNA1A):c.1986+19C>A rs2145001986
NM_001127222.2(CACNA1A):c.1986+6G>A rs1791823785
NM_001127222.2(CACNA1A):c.1987-12C>A
NM_001127222.2(CACNA1A):c.1987-16C>A rs1057523685
NM_001127222.2(CACNA1A):c.1987-17T>C rs2144981058
NM_001127222.2(CACNA1A):c.1991T>C (p.Leu664Pro)
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.1999G>A (p.Glu667Lys) rs2057842904
NM_001127222.2(CACNA1A):c.199G>A (p.Val67Ile)
NM_001127222.2(CACNA1A):c.19G>A (p.Glu7Lys)
NM_001127222.2(CACNA1A):c.2000A>C (p.Glu667Ala)
NM_001127222.2(CACNA1A):c.2003A>T (p.Asp668Val)
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter) rs1555757537
NM_001127222.2(CACNA1A):c.2011G>A (p.Glu671Lys) rs1434942721
NM_001127222.2(CACNA1A):c.2016C>T (p.Val672=)
NM_001127222.2(CACNA1A):c.201C>A (p.Val67=)
NM_001127222.2(CACNA1A):c.2022C>A (p.Tyr674Ter) rs940460024
NM_001127222.2(CACNA1A):c.2023G>A (p.Asp675Asn) rs906669300
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2039del (p.Gln680fs) rs1555757523
NM_001127222.2(CACNA1A):c.203G>A (p.Arg68Gln) rs576099495
NM_001127222.2(CACNA1A):c.2040G>C (p.Gln680His)
NM_001127222.2(CACNA1A):c.2045dup (p.Val683fs)
NM_001127222.2(CACNA1A):c.2046C>A (p.Gly682=)
NM_001127222.2(CACNA1A):c.2047G>A (p.Val683Met)
NM_001127222.2(CACNA1A):c.2056G>A (p.Gly686Ser) rs1064795643
NM_001127222.2(CACNA1A):c.2075A>G (p.Tyr692Cys) rs2057841267
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=) rs908321451
NM_001127222.2(CACNA1A):c.209A>G (p.Asn70Ser) rs749526415
NM_001127222.2(CACNA1A):c.2104+10A>G rs2057840734
NM_001127222.2(CACNA1A):c.2105-5dup rs2144979466
NM_001127222.2(CACNA1A):c.2105-9C>G rs1392079452
NM_001127222.2(CACNA1A):c.2105-9C>T
NM_001127222.2(CACNA1A):c.2105A>T (p.Tyr702Phe) rs2057837052
NM_001127222.2(CACNA1A):c.2106C>T (p.Tyr702=)
NM_001127222.2(CACNA1A):c.2107A>T (p.Thr703Ser) rs1600283133
NM_001127222.2(CACNA1A):c.2118T>G (p.Asn706Lys) rs2057836849
NM_001127222.2(CACNA1A):c.2123T>C (p.Phe708Ser) rs2057836815
NM_001127222.2(CACNA1A):c.2124C>A (p.Phe708Leu) rs762654239
NM_001127222.2(CACNA1A):c.2127G>T (p.Leu709Phe) rs886041654
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val) rs1568514116
NM_001127222.2(CACNA1A):c.2133C>A (p.Ile711=) rs764839814
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2134G>T (p.Ala712Ser) rs886037945
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met) rs2144979269
NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His)
NM_001127222.2(CACNA1A):c.2141A>G (p.Asp714Gly) rs2057836063
NM_001127222.2(CACNA1A):c.2144A>C (p.Asn715Thr) rs1555757432
NM_001127222.2(CACNA1A):c.2149G>A (p.Ala717Thr) rs2144979185
NM_001127222.2(CACNA1A):c.2172+14G>A rs1195908031
NM_001127222.2(CACNA1A):c.2172+16G>A rs895983254
NM_001127222.2(CACNA1A):c.2172+7G>C rs1600282994
NM_001127222.2(CACNA1A):c.2172+7G>T rs1600282994
NM_001127222.2(CACNA1A):c.2173-11G>T
NM_001127222.2(CACNA1A):c.2173-8C>T
NM_001127222.2(CACNA1A):c.2175C>T (p.Asp725=)
NM_001127222.2(CACNA1A):c.2187A>G (p.Glu729=) rs2144964768
NM_001127222.2(CACNA1A):c.2188G>C (p.Glu730Gln)
NM_001127222.2(CACNA1A):c.2191G>T (p.Glu731Ter) rs1555756737
NM_001127222.2(CACNA1A):c.219G>A (p.Thr73=)
NM_001127222.2(CACNA1A):c.2202C>A (p.Asn734Lys) rs2057768031
NM_001127222.2(CACNA1A):c.2210T>C (p.Leu737Pro) rs2057767797
NM_001127222.2(CACNA1A):c.2232G>A (p.Glu744=) rs2144964550
NM_001127222.2(CACNA1A):c.2237C>A (p.Ala746Glu)
NM_001127222.2(CACNA1A):c.2245A>G (p.Ser749Gly) rs1248327304
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr) rs535900273
NM_001127222.2(CACNA1A):c.2256C>A (p.Ser752=)
NM_001127222.2(CACNA1A):c.2256C>G (p.Ser752=) rs764816582
NM_001127222.2(CACNA1A):c.225C>G (p.Asn75Lys) rs1982991598
NM_001127222.2(CACNA1A):c.2279+12T>G
NM_001127222.2(CACNA1A):c.2280-12A>G
NM_001127222.2(CACNA1A):c.2280-17dup rs2144958686
NM_001127222.2(CACNA1A):c.2291A>G (p.Gln764Arg)
NM_001127222.2(CACNA1A):c.2299C>A (p.Gln767Lys)
NM_001127222.2(CACNA1A):c.2304G>C (p.Lys768Asn) rs771905201
NM_001127222.2(CACNA1A):c.2308G>A (p.Ala770Thr)
NM_001127222.2(CACNA1A):c.2309C>T (p.Ala770Val) rs2057740662
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter) rs2144958410
NM_001127222.2(CACNA1A):c.2312A>G (p.Lys771Arg)
NM_001127222.2(CACNA1A):c.2317_2319delinsAC (p.Val773fs) rs1555756461
NM_001127222.2(CACNA1A):c.2327A>G (p.Gln776Arg)
NM_001127222.2(CACNA1A):c.2335A>T (p.Ser779Cys) rs2144958254
NM_001127222.2(CACNA1A):c.2336G>A (p.Ser779Asn)
NM_001127222.2(CACNA1A):c.2336G>C (p.Ser779Thr) rs372715067
NM_001127222.2(CACNA1A):c.2337T>C (p.Ser779=) rs1555756457
NM_001127222.2(CACNA1A):c.2343G>A (p.Met781Ile)
NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs)
NM_001127222.2(CACNA1A):c.234C>T (p.Leu78=) rs1982990940
NM_001127222.2(CACNA1A):c.2350C>T (p.Gln784Ter)
NM_001127222.2(CACNA1A):c.2352G>C (p.Gln784His) rs2144958118
NM_001127222.2(CACNA1A):c.2355C>G (p.Asn785Lys) rs2144958094
NM_001127222.2(CACNA1A):c.2357del (p.Leu786fs) rs2057739636
NM_001127222.2(CACNA1A):c.235T>G (p.Phe79Val) rs2145192231
NM_001127222.2(CACNA1A):c.235_237del (p.Phe79del) rs1568719711
NM_001127222.2(CACNA1A):c.2371G>A (p.Glu791Lys)
NM_001127222.2(CACNA1A):c.2374G>T (p.Ala792Ser) rs753248182
NM_001127222.2(CACNA1A):c.2381A>G (p.Tyr794Cys)
NM_001127222.2(CACNA1A):c.2381A>T (p.Tyr794Phe) rs1374890716
NM_001127222.2(CACNA1A):c.2382T>C (p.Tyr794=) rs1299468325
NM_001127222.2(CACNA1A):c.2383A>T (p.Asn795Tyr)
NM_001127222.2(CACNA1A):c.2386G>A (p.Glu796Lys)
NM_001127222.2(CACNA1A):c.2392G>A (p.Asp798Asn) rs1380195853
NM_001127222.2(CACNA1A):c.2393A>G (p.Asp798Gly)
NM_001127222.2(CACNA1A):c.2400C>T (p.Asp800=) rs376074188
NM_001127222.2(CACNA1A):c.2401G>A (p.Glu801Lys)
NM_001127222.2(CACNA1A):c.2401G>T (p.Glu801Ter) rs1231997862
NM_001127222.2(CACNA1A):c.2402dup (p.Arg802fs)
NM_001127222.2(CACNA1A):c.2407T>C (p.Trp803Arg)
NM_001127222.2(CACNA1A):c.2408G>A (p.Trp803Ter) rs1600274038
NM_001127222.2(CACNA1A):c.240C>T (p.Leu80=)
NM_001127222.2(CACNA1A):c.2418C>T (p.Ala806=)
NM_001127222.2(CACNA1A):c.2420A>C (p.Tyr807Ser)
NM_001127222.2(CACNA1A):c.2422A>T (p.Thr808Ser) rs772177961
NM_001127222.2(CACNA1A):c.2426G>A (p.Arg809Gln) rs2057737782
NM_001127222.2(CACNA1A):c.2430C>A (p.His810Gln)
NM_001127222.2(CACNA1A):c.2435G>T (p.Arg812Leu) rs953797733
NM_001127222.2(CACNA1A):c.2439A>G (p.Pro813=) rs2144957398
NM_001127222.2(CACNA1A):c.2440G>A (p.Asp814Asn)
NM_001127222.2(CACNA1A):c.2443A>G (p.Met815Val)
NM_001127222.2(CACNA1A):c.2447A>G (p.Lys816Arg)
NM_001127222.2(CACNA1A):c.2451G>A (p.Thr817=) rs201998077
NM_001127222.2(CACNA1A):c.2456T>C (p.Leu819Ser)
NM_001127222.2(CACNA1A):c.2465C>T (p.Pro822Leu)
NM_001127222.2(CACNA1A):c.2472G>A (p.Val824=)
NM_001127222.2(CACNA1A):c.2473G>A (p.Val825Met) rs2144957270
NM_001127222.2(CACNA1A):c.2481_2482delinsTT (p.Gln828Ter)
NM_001127222.2(CACNA1A):c.2485G>A (p.Glu829Lys)
NM_001127222.2(CACNA1A):c.2487G>C (p.Glu829Asp) rs755434242
NM_001127222.2(CACNA1A):c.2491C>A (p.Arg831Ser) rs1464680327
NM_001127222.2(CACNA1A):c.2492G>C (p.Arg831Pro) rs1242675074
NM_001127222.2(CACNA1A):c.2495A>G (p.Asn832Ser)
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del) rs750962335
NM_001127222.2(CACNA1A):c.2510A>G (p.Lys837Arg) rs1293855171
NM_001127222.2(CACNA1A):c.2512A>G (p.Ser838Gly)
NM_001127222.2(CACNA1A):c.2513G>T (p.Ser838Ile) rs2057735935
NM_001127222.2(CACNA1A):c.2518G>C (p.Ala840Pro)
NM_001127222.2(CACNA1A):c.2519C>T (p.Ala840Val)
NM_001127222.2(CACNA1A):c.2523C>T (p.Ala841=)
NM_001127222.2(CACNA1A):c.2524G>T (p.Glu842Ter) rs767534576
NM_001127222.2(CACNA1A):c.2531C>T (p.Thr844Ile)
NM_001127222.2(CACNA1A):c.2533G>A (p.Val845Met) rs1168020406
NM_001127222.2(CACNA1A):c.2539C>T (p.Gln847Ter) rs1420078244
NM_001127222.2(CACNA1A):c.2548G>A (p.Gly850Ser)
NM_001127222.2(CACNA1A):c.254A>G (p.Asn85Ser) rs746902081
NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter) rs1600273534
NM_001127222.2(CACNA1A):c.2559C>T (p.Arg853=)
NM_001127222.2(CACNA1A):c.2560G>C (p.Ala854Pro)
NM_001127222.2(CACNA1A):c.2563G>A (p.Glu855Lys)
NM_001127222.2(CACNA1A):c.2564A>C (p.Glu855Ala) rs2057734618
NM_001127222.2(CACNA1A):c.2568C>T (p.Asp856=) rs2144956514
NM_001127222.2(CACNA1A):c.2580A>G (p.Lys860=)
NM_001127222.2(CACNA1A):c.2581C>G (p.Gln861Glu) rs1407784551
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del) rs767951499
NM_001127222.2(CACNA1A):c.2586C>G (p.Ala862=) rs1390932807
NM_001127222.2(CACNA1A):c.2587C>A (p.Arg863Ser) rs777076641
NM_001127222.2(CACNA1A):c.2587C>G (p.Arg863Gly)
NM_001127222.2(CACNA1A):c.258G>C (p.Val86=)
NM_001127222.2(CACNA1A):c.2592C>T (p.Tyr864=) rs1463277441
NM_001127222.2(CACNA1A):c.2594A>T (p.His865Leu)
NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs) rs2144956340
NM_001127222.2(CACNA1A):c.2599C>A (p.Arg867=) rs2057733890
NM_001127222.2(CACNA1A):c.25C>T (p.Pro9Ser)
NM_001127222.2(CACNA1A):c.2600G>C (p.Arg867Pro) rs754326939
NM_001127222.2(CACNA1A):c.2602G>A (p.Ala868Thr) rs1175516920
NM_001127222.2(CACNA1A):c.2602G>T (p.Ala868Ser)
NM_001127222.2(CACNA1A):c.2602del (p.Ala868fs)
NM_001127222.2(CACNA1A):c.2603C>T (p.Ala868Val)
NM_001127222.2(CACNA1A):c.2611C>T (p.Pro871Ser) rs780462531
NM_001127222.2(CACNA1A):c.2613C>T (p.Pro871=)
NM_001127222.2(CACNA1A):c.2616C>A (p.Ser872Arg)
NM_001127222.2(CACNA1A):c.2619C>T (p.Gly873=) rs761874927
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu) rs1057522802
NM_001127222.2(CACNA1A):c.2627G>A (p.Gly876Asp)
NM_001127222.2(CACNA1A):c.2630T>A (p.Leu877Gln)
NM_001127222.2(CACNA1A):c.2633_2649dup (p.Ala884fs)
NM_001127222.2(CACNA1A):c.2636C>T (p.Ala879Val) rs2057732636
NM_001127222.2(CACNA1A):c.2640G>C (p.Arg880=) rs759401764
NM_001127222.2(CACNA1A):c.2644C>T (p.Pro882Ser)
NM_001127222.2(CACNA1A):c.2654G>A (p.Gly885Glu)
NM_001127222.2(CACNA1A):c.2667C>T (p.Ala889=)
NM_001127222.2(CACNA1A):c.2668G>A (p.Glu890Lys)
NM_001127222.2(CACNA1A):c.2668G>C (p.Glu890Gln)
NM_001127222.2(CACNA1A):c.2671C>T (p.Leu891=) rs1205064338
NM_001127222.2(CACNA1A):c.2672T>A (p.Leu891Gln) rs1171365113
NM_001127222.2(CACNA1A):c.2674A>G (p.Ser892Gly) rs2057731579
NM_001127222.2(CACNA1A):c.2683G>C (p.Gly895Arg) rs1358948688
NM_001127222.2(CACNA1A):c.2685A>T (p.Gly895=)
NM_001127222.2(CACNA1A):c.2687C>T (p.Pro896Leu) rs121908242
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg) rs751726770
NM_001127222.2(CACNA1A):c.2694C>T (p.Gly898=)
NM_001127222.2(CACNA1A):c.2697C>G (p.Arg899=)
NM_001127222.2(CACNA1A):c.26C>G (p.Pro9Arg)
NM_001127222.2(CACNA1A):c.2702C>G (p.Ser901Trp)
NM_001127222.2(CACNA1A):c.2704G>T (p.Asp902Tyr) rs2057730771
NM_001127222.2(CACNA1A):c.2706C>G (p.Asp902Glu) rs1446752227
NM_001127222.2(CACNA1A):c.2706C>T (p.Asp902=) rs1446752227
NM_001127222.2(CACNA1A):c.2708A>C (p.His903Pro) rs1600272904
NM_001127222.2(CACNA1A):c.2728C>G (p.Leu910Val)
NM_001127222.2(CACNA1A):c.2729T>A (p.Leu910Gln) rs953766694
NM_001127222.2(CACNA1A):c.2730G>A (p.Leu910=) rs987547951
NM_001127222.2(CACNA1A):c.2739C>G (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2742G>A (p.Gly914=) rs2144955190
NM_001127222.2(CACNA1A):c.2751G>A (p.Glu917=)
NM_001127222.2(CACNA1A):c.2752G>T (p.Gly918Cys) rs2144955129
NM_001127222.2(CACNA1A):c.2755G>A (p.Glu919Lys) rs1555756130
NM_001127222.2(CACNA1A):c.2755G>T (p.Glu919Ter) rs1555756130
NM_001127222.2(CACNA1A):c.2755_2769dup (p.Glu919_Gly923dup) rs2057728868
NM_001127222.2(CACNA1A):c.2759C>T (p.Ala920Val)
NM_001127222.2(CACNA1A):c.2776G>A (p.Gly926Arg) rs1337217129
NM_001127222.2(CACNA1A):c.2778G>A (p.Gly926=) rs1035531839
NM_001127222.2(CACNA1A):c.2779del (p.Asp927fs)
NM_001127222.2(CACNA1A):c.2784C>G (p.Pro928=) rs2144954801
NM_001127222.2(CACNA1A):c.2787C>T (p.His929=) rs1555756078
NM_001127222.2(CACNA1A):c.2796C>T (p.His932=) rs772941423
NM_001127222.2(CACNA1A):c.2801A>G (p.His934Arg)
NM_001127222.2(CACNA1A):c.2803C>T (p.Arg935Trp) rs931394162
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs) rs1600272344
NM_001127222.2(CACNA1A):c.2805G>A (p.Arg935=)
NM_001127222.2(CACNA1A):c.2805G>T (p.Arg935=) rs1002026253
NM_001127222.2(CACNA1A):c.2806C>G (p.Gln936Glu) rs1318353774
NM_001127222.2(CACNA1A):c.2808G>T (p.Gln936His) rs1439845382
NM_001127222.2(CACNA1A):c.2810G>T (p.Gly937Val)
NM_001127222.2(CACNA1A):c.2812_2813del (p.Gly938fs)
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp) rs747413278
NM_001127222.2(CACNA1A):c.2813G>T (p.Gly938Val) rs747413278
NM_001127222.2(CACNA1A):c.2813del (p.Gly938fs)
NM_001127222.2(CACNA1A):c.2819G>A (p.Arg940Lys) rs1439559578
NM_001127222.2(CACNA1A):c.2820G>A (p.Arg940=)
NM_001127222.2(CACNA1A):c.2821G>C (p.Glu941Gln)
NM_001127222.2(CACNA1A):c.2823G>C (p.Glu941Asp)
NM_001127222.2(CACNA1A):c.2830A>T (p.Ser944Cys)
NM_001127222.2(CACNA1A):c.2837_2844del (p.Ser946fs)
NM_001127222.2(CACNA1A):c.2840C>G (p.Pro947Arg)
NM_001127222.2(CACNA1A):c.2840C>T (p.Pro947Leu)
NM_001127222.2(CACNA1A):c.2840del (p.Pro947fs) rs2144954299
NM_001127222.2(CACNA1A):c.2843G>T (p.Arg948Leu)
NM_001127222.2(CACNA1A):c.2844_2853del (p.Ala951fs) rs1555755977
NM_001127222.2(CACNA1A):c.284C>G (p.Thr95Ser)
NM_001127222.2(CACNA1A):c.2850C>T (p.Gly950=) rs2144954181
NM_001127222.2(CACNA1A):c.2851G>A (p.Ala951Thr)
NM_001127222.2(CACNA1A):c.2856C>A (p.Asp952Glu) rs2057726092
NM_001127222.2(CACNA1A):c.2857G>A (p.Gly953Arg) rs1057518292
NM_001127222.2(CACNA1A):c.2858G>A (p.Gly953Glu)
NM_001127222.2(CACNA1A):c.2859G>A (p.Gly953=)
NM_001127222.2(CACNA1A):c.2863C>T (p.His955Tyr) rs2057725846
NM_001127222.2(CACNA1A):c.2865T>G (p.His955Gln)
NM_001127222.2(CACNA1A):c.2866C>A (p.Arg956=) rs1245624754
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln) rs551380805
NM_001127222.2(CACNA1A):c.2867G>C (p.Arg956Pro)
NM_001127222.2(CACNA1A):c.286G>T (p.Glu96Ter)
NM_001127222.2(CACNA1A):c.2873A>G (p.His958Arg)
NM_001127222.2(CACNA1A):c.2875C>A (p.Arg959Ser)
NM_001127222.2(CACNA1A):c.2880G>T (p.Ala960=) rs1600272032
NM_001127222.2(CACNA1A):c.2886C>T (p.Arg962=) rs1443085599
NM_001127222.2(CACNA1A):c.2887A>C (p.Arg963=) rs1555755942
NM_001127222.2(CACNA1A):c.2892C>G (p.Pro964=)
NM_001127222.2(CACNA1A):c.2892C>T (p.Pro964=) rs771351347
NM_001127222.2(CACNA1A):c.2893G>A (p.Gly965Arg) rs1473069840
NM_001127222.2(CACNA1A):c.2895G>A (p.Gly965=) rs1057522107
NM_001127222.2(CACNA1A):c.2896G>A (p.Glu966Lys) rs747456771
NM_001127222.2(CACNA1A):c.2896G>C (p.Glu966Gln)
NM_001127222.2(CACNA1A):c.2898G>A (p.Glu966=)
NM_001127222.2(CACNA1A):c.2899_2900delinsTT (p.Glu967Leu) rs2144953620
NM_001127222.2(CACNA1A):c.2904T>G (p.Gly968=)
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs) rs1555755909
NM_001127222.2(CACNA1A):c.2909A>G (p.Glu970Gly) rs1555755916
NM_001127222.2(CACNA1A):c.2914A>G (p.Lys972Glu) rs2144953504
NM_001127222.2(CACNA1A):c.2922G>A (p.Glu974=) rs1361813971
NM_001127222.2(CACNA1A):c.2924G>A (p.Arg975Gln) rs748418783
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu) rs748418783
NM_001127222.2(CACNA1A):c.2930C>T (p.Ala977Val) rs1432898385
NM_001127222.2(CACNA1A):c.2937C>T (p.His979=) rs1600271774
NM_001127222.2(CACNA1A):c.293C>T (p.Pro98Leu) rs2145192098
NM_001127222.2(CACNA1A):c.294-15T>A rs1329913453
NM_001127222.2(CACNA1A):c.294-1C>A rs1568662077
NM_001127222.2(CACNA1A):c.294-6C>A rs764502828
NM_001127222.2(CACNA1A):c.2941G>A (p.Glu981Lys)
NM_001127222.2(CACNA1A):c.2944G>A (p.Gly982Ser) rs1367737519
NM_001127222.2(CACNA1A):c.2950C>G (p.Arg984Gly)
NM_001127222.2(CACNA1A):c.2952G>C (p.Arg984=)
NM_001127222.2(CACNA1A):c.2955G>A (p.Pro985=) rs749357610
NM_001127222.2(CACNA1A):c.2956G>A (p.Ala986Thr) rs376228771
NM_001127222.2(CACNA1A):c.2956G>T (p.Ala986Ser)
NM_001127222.2(CACNA1A):c.2957C>T (p.Ala986Val) rs2144953042
NM_001127222.2(CACNA1A):c.2959C>T (p.Arg987Trp) rs1489702072
NM_001127222.2(CACNA1A):c.2960G>C (p.Arg987Pro) rs955869211
NM_001127222.2(CACNA1A):c.2962G>A (p.Gly988Ser)
NM_001127222.2(CACNA1A):c.2965G>T (p.Gly989Cys)
NM_001127222.2(CACNA1A):c.2966_2967delinsTT (p.Gly989Val) rs2144952921
NM_001127222.2(CACNA1A):c.2966_2989del (p.Gly989_Pro996del) rs2144952654
NM_001127222.2(CACNA1A):c.2968GAGGGC[1] (p.990EG[1]) rs764399373
NM_001127222.2(CACNA1A):c.2968GAGGGC[2] (p.990EG[2]) rs764399373
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.2973C>G (p.Gly991=)
NM_001127222.2(CACNA1A):c.2974G>C (p.Glu992Gln) rs2057722066
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter) rs1600271575
NM_001127222.2(CACNA1A):c.2982G>C (p.Glu994Asp) rs2144952767
NM_001127222.2(CACNA1A):c.2983_3000dup (p.Gly995_Glu1000dup) rs2057721057
NM_001127222.2(CACNA1A):c.2984G>T (p.Gly995Val) rs1002778568
NM_001127222.2(CACNA1A):c.2985C>A (p.Gly995=) rs1051973
NM_001127222.2(CACNA1A):c.2987C>G (p.Pro996Arg) rs750356248
NM_001127222.2(CACNA1A):c.2987C>T (p.Pro996Leu)
NM_001127222.2(CACNA1A):c.2989G>A (p.Asp997Asn) rs2057721376
NM_001127222.2(CACNA1A):c.2991C>T (p.Asp997=)
NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu) rs2057721231
NM_001127222.2(CACNA1A):c.2994G>A (p.Gly998=)
NM_001127222.2(CACNA1A):c.2995G>A (p.Gly999Ser)
NM_001127222.2(CACNA1A):c.2996del (p.Gly999fs)
NM_001127222.2(CACNA1A):c.2997C>T (p.Gly999=)
NM_001127222.2(CACNA1A):c.3000G>T (p.Glu1000Asp)
NM_001127222.2(CACNA1A):c.3002G>T (p.Arg1001Leu) rs1424294725
NM_001127222.2(CACNA1A):c.3003C>T (p.Arg1001=)
NM_001127222.2(CACNA1A):c.3004A>T (p.Arg1002Trp) rs1175036875
NM_001127222.2(CACNA1A):c.3006_3007delinsCT (p.Arg1002_Arg1003delinsSerTer) rs2144952476
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del) rs763302316
NM_001127222.2(CACNA1A):c.3012G>A (p.Arg1004=)
NM_001127222.2(CACNA1A):c.3017G>A (p.Arg1006Gln) rs1268938831
NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)
NM_001127222.2(CACNA1A):c.3018G>A (p.Arg1006=)
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys) rs886037944
NM_001127222.2(CACNA1A):c.301G>C (p.Glu101Gln) rs886037944
NM_001127222.2(CACNA1A):c.3020A>T (p.His1007Leu)
NM_001127222.2(CACNA1A):c.3023G>A (p.Gly1008Asp)
NM_001127222.2(CACNA1A):c.3033C>T (p.Ala1011=) rs2144952263
NM_001127222.2(CACNA1A):c.3035C>T (p.Thr1012Met) rs573941336
NM_001127222.2(CACNA1A):c.3036G>A (p.Thr1012=) rs1302148060
NM_001127222.2(CACNA1A):c.3036G>C (p.Thr1012=)
NM_001127222.2(CACNA1A):c.3042G>C (p.Glu1014Asp) rs868354475
NM_001127222.2(CACNA1A):c.3046G>A (p.Asp1016Asn) rs2057719269
NM_001127222.2(CACNA1A):c.3046del (p.Asp1016fs)
NM_001127222.2(CACNA1A):c.3049G>A (p.Ala1017Thr)
NM_001127222.2(CACNA1A):c.3051G>A (p.Ala1017=) rs2057719000
NM_001127222.2(CACNA1A):c.3053G>A (p.Arg1018Gln) rs762288499
NM_001127222.2(CACNA1A):c.3058_3075dup (p.Arg1025_His1026insGluAspLysGluArgArg)
NM_001127222.2(CACNA1A):c.3067G>A (p.Glu1023Lys) rs1555755809
NM_001127222.2(CACNA1A):c.3070C>A (p.Arg1024=) rs1180851544
NM_001127222.2(CACNA1A):c.3077A>G (p.His1026Arg) rs2057717972
NM_001127222.2(CACNA1A):c.3079C>G (p.Arg1027Gly) rs1064794406
NM_001127222.2(CACNA1A):c.3079C>T (p.Arg1027Trp)
NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly)
NM_001127222.2(CACNA1A):c.3089+10G>A
NM_001127222.2(CACNA1A):c.3089+15C>T
NM_001127222.2(CACNA1A):c.3089+18C>G
NM_001127222.2(CACNA1A):c.3089+18C>T
NM_001127222.2(CACNA1A):c.3089+1G>A rs2057717676
NM_001127222.2(CACNA1A):c.3089+4A>G
NM_001127222.2(CACNA1A):c.3090-10C>T
NM_001127222.2(CACNA1A):c.3090-3C>T
NM_001127222.2(CACNA1A):c.3090-5C>T rs976595665
NM_001127222.2(CACNA1A):c.3091_3094del
NM_001127222.2(CACNA1A):c.3093G>C (p.Glu1031Asp)
NM_001127222.2(CACNA1A):c.3100G>A (p.Gly1034Ser) rs1600246766
NM_001127222.2(CACNA1A):c.3101G>A (p.Gly1034Asp) rs2144889565
NM_001127222.2(CACNA1A):c.3105dup (p.Gly1036fs) rs2144889523
NM_001127222.2(CACNA1A):c.3108G>T (p.Gly1036=)
NM_001127222.2(CACNA1A):c.3117G>A (p.Val1039=) rs745981005
NM_001127222.2(CACNA1A):c.3122del (p.Gly1041fs)
NM_001127222.2(CACNA1A):c.3124C>A (p.Pro1042Thr) rs2057414935
NM_001127222.2(CACNA1A):c.3129C>A (p.Asn1043Lys) rs1187232740
NM_001127222.2(CACNA1A):c.3134C>G (p.Ser1045Ter) rs2144889289
NM_001127222.2(CACNA1A):c.3143G>A (p.Arg1048Gln)
NM_001127222.2(CACNA1A):c.3144G>A (p.Arg1048=)
NM_001127222.2(CACNA1A):c.3145C>A (p.Pro1049Thr) rs2057414205
NM_001127222.2(CACNA1A):c.3157G>C (p.Asp1053His) rs2144889174
NM_001127222.2(CACNA1A):c.3164G>C (p.Gly1055Ala) rs1600246526
NM_001127222.2(CACNA1A):c.3168C>G (p.Arg1056=)
NM_001127222.2(CACNA1A):c.3174C>G (p.Asp1058Glu)
NM_001127222.2(CACNA1A):c.3175C>A (p.Pro1059Thr)
NM_001127222.2(CACNA1A):c.3179C>G (p.Pro1060Arg) rs763400188
NM_001127222.2(CACNA1A):c.3190G>C (p.Asp1064His)
NM_001127222.2(CACNA1A):c.3195T>C (p.Ile1065=) rs1480156688
NM_001127222.2(CACNA1A):c.31C>T (p.Arg11Cys)
NM_001127222.2(CACNA1A):c.3213C>A (p.Asn1071Lys) rs1369614864
NM_001127222.2(CACNA1A):c.3213C>T (p.Asn1071=)
NM_001127222.2(CACNA1A):c.3225C>T (p.Thr1075=)
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001127222.2(CACNA1A):c.323T>C (p.Ile108Thr)
NM_001127222.2(CACNA1A):c.3241C>T (p.Pro1081Ser) rs1467243087
NM_001127222.2(CACNA1A):c.3243C>G (p.Pro1081=) rs749854221
NM_001127222.2(CACNA1A):c.324C>G (p.Ile108Met) rs2144947382
NM_001127222.2(CACNA1A):c.3262G>T (p.Ala1088Ser)
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser) rs201311000
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
NM_001127222.2(CACNA1A):c.3266G>T (p.Gly1089Val)
NM_001127222.2(CACNA1A):c.3267C>T (p.Gly1089=)
NM_001127222.2(CACNA1A):c.3277_3283del (p.Ser1093fs) rs2144888569
NM_001127222.2(CACNA1A):c.3288G>A (p.Lys1096=) rs1555752995
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile) rs768567834
NM_001127222.2(CACNA1A):c.3307C>T (p.Pro1103Ser)
NM_001127222.2(CACNA1A):c.330G>T (p.Ala110=) rs375486960
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001127222.2(CACNA1A):c.3315C>T (p.Pro1105=)
NM_001127222.2(CACNA1A):c.3319C>T (p.Leu1107=)
NM_001127222.2(CACNA1A):c.3325A>T (p.Ile1109Phe) rs1568495538
NM_001127222.2(CACNA1A):c.3329C>A (p.Pro1110His)
NM_001127222.2(CACNA1A):c.3330T>G (p.Pro1110=)
NM_001127222.2(CACNA1A):c.3334A>G (p.Met1112Val)
NM_001127222.2(CACNA1A):c.3345C>T (p.Asn1115=) rs752384911
NM_001127222.2(CACNA1A):c.3349C>A (p.Gln1117Lys)
NM_001127222.2(CACNA1A):c.3355G>C (p.Ala1119Pro) rs199745070
NM_001127222.2(CACNA1A):c.3358G>A (p.Ala1120Thr)
NM_001127222.2(CACNA1A):c.3365G>T (p.Arg1122Leu)
NM_001127222.2(CACNA1A):c.3367C>T (p.Arg1123Trp) rs775079497
NM_001127222.2(CACNA1A):c.3369G>A (p.Arg1123=)
NM_001127222.2(CACNA1A):c.337A>T (p.Ile113Phe)
NM_001127222.2(CACNA1A):c.3383C>A (p.Pro1128Gln) rs754208553
NM_001127222.2(CACNA1A):c.3393_3401dup (p.Ser1132_Pro1134dup) rs770648017
NM_001127222.2(CACNA1A):c.3395C>T (p.Ser1132Phe) rs2144887797
NM_001127222.2(CACNA1A):c.3405C>A (p.Gly1135=) rs751649216
NM_001127222.2(CACNA1A):c.3406C>T (p.Pro1136Ser) rs764131315
NM_001127222.2(CACNA1A):c.3409C>A (p.Pro1137Thr)
NM_001127222.2(CACNA1A):c.3410C>A (p.Pro1137His) rs200333359
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.3410C>T (p.Pro1137Leu) rs200333359
NM_001127222.2(CACNA1A):c.3411C>A (p.Pro1137=)
NM_001127222.2(CACNA1A):c.3411C>T (p.Pro1137=) rs770525318
NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.3413A>G (p.Lys1138Arg) rs746555911
NM_001127222.2(CACNA1A):c.3413A>T (p.Lys1138Met)
NM_001127222.2(CACNA1A):c.3414G>A (p.Lys1138=) rs1600245661
NM_001127222.2(CACNA1A):c.3415A>T (p.Thr1139Ser)
NM_001127222.2(CACNA1A):c.3430C>T (p.Leu1144Phe) rs2057405997
NM_001127222.2(CACNA1A):c.3437del (p.Val1146fs)
NM_001127222.2(CACNA1A):c.3444C>T (p.Asn1148=)
NM_001127222.2(CACNA1A):c.3451G>A (p.Gly1151Ser)
NM_001127222.2(CACNA1A):c.3453C>G (p.Gly1151=)
NM_001127222.2(CACNA1A):c.3461C>G (p.Thr1154Ser)
NM_001127222.2(CACNA1A):c.3464A>G (p.Asn1155Ser) rs992828062
NM_001127222.2(CACNA1A):c.3464A>T (p.Asn1155Ile) rs992828062
NM_001127222.2(CACNA1A):c.346G>A (p.Ala116Thr) rs778725158
NM_001127222.2(CACNA1A):c.3473A>C (p.Lys1158Thr)
NM_001127222.2(CACNA1A):c.3478G>A (p.Ala1160Thr) rs1256731049
NM_001127222.2(CACNA1A):c.3478G>T (p.Ala1160Ser)
NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs) rs2057404744
NM_001127222.2(CACNA1A):c.3479C>G (p.Ala1160Gly) rs766027931
NM_001127222.2(CACNA1A):c.3488_3489delinsAA (p.Pro1163Gln)
NM_001127222.2(CACNA1A):c.3489C>G (p.Pro1163=) rs771567638
NM_001127222.2(CACNA1A):c.348A>T (p.Ala116=) rs2060983904
NM_001127222.2(CACNA1A):c.3495C>T (p.His1165=) rs1436962839
NM_001127222.2(CACNA1A):c.34T>C (p.Tyr12His)
NM_001127222.2(CACNA1A):c.3510C>T (p.Ile1170=)
NM_001127222.2(CACNA1A):c.3513C>T (p.Pro1171=)
NM_001127222.2(CACNA1A):c.3515C>T (p.Pro1172Leu)
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=) rs886044439
NM_001127222.2(CACNA1A):c.3526C>A (p.Pro1176Thr) rs1458640910
NM_001127222.2(CACNA1A):c.3528C>A (p.Pro1176=) rs2057403294
NM_001127222.2(CACNA1A):c.3529C>A (p.Pro1177Thr) rs1057522207
NM_001127222.2(CACNA1A):c.3529C>G (p.Pro1177Ala) rs1057522207
NM_001127222.2(CACNA1A):c.3529C>T (p.Pro1177Ser) rs1057522207
NM_001127222.2(CACNA1A):c.3530C>A (p.Pro1177His)
NM_001127222.2(CACNA1A):c.3530C>G (p.Pro1177Arg) rs201789073
NM_001127222.2(CACNA1A):c.3530C>T (p.Pro1177Leu) rs201789073
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>T (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3532C>A (p.Leu1178Ile) rs556266465
NM_001127222.2(CACNA1A):c.3532C>G (p.Leu1178Val) rs556266465
NM_001127222.2(CACNA1A):c.3532del (p.Leu1178fs) rs757953057
NM_001127222.2(CACNA1A):c.3532dup (p.Leu1178fs) rs757953057
NM_001127222.2(CACNA1A):c.3533T>C (p.Leu1178Pro)
NM_001127222.2(CACNA1A):c.3533del (p.Leu1178fs) rs1568494824
NM_001127222.2(CACNA1A):c.3533dup (p.Asn1179fs)
NM_001127222.2(CACNA1A):c.3542C>T (p.Thr1181Ile)
NM_001127222.2(CACNA1A):c.3545T>C (p.Val1182Ala)
NM_001127222.2(CACNA1A):c.3553+16C>T
NM_001127222.2(CACNA1A):c.3553+18C>A
NM_001127222.2(CACNA1A):c.3553+19A>T
NM_001127222.2(CACNA1A):c.3554-17G>T
NM_001127222.2(CACNA1A):c.3563del (p.Asn1188fs) rs2144880750
NM_001127222.2(CACNA1A):c.3565G>A (p.Ala1189Thr) rs1034876149
NM_001127222.2(CACNA1A):c.3574G>A (p.Asp1192Asn) rs773649403
NM_001127222.2(CACNA1A):c.357G>A (p.Gln119=) rs1568661972
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu) rs1568493631
NM_001127222.2(CACNA1A):c.3590_3593del (p.Lys1197fs) rs2057373332
NM_001127222.2(CACNA1A):c.3591A>G (p.Lys1197=)
NM_001127222.2(CACNA1A):c.3597_3599del (p.Glu1200del)
NM_001127222.2(CACNA1A):c.3598G>A (p.Glu1200Lys)
NM_001127222.2(CACNA1A):c.3599A>G (p.Glu1200Gly) rs2057373105
NM_001127222.2(CACNA1A):c.35A>T (p.Tyr12Phe) rs994265107
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del) rs750826355
NM_001127222.2(CACNA1A):c.3609G>A (p.Glu1203=) rs529584159
NM_001127222.2(CACNA1A):c.3625C>A (p.Arg1209Ser) rs781026181
NM_001127222.2(CACNA1A):c.3625C>T (p.Arg1209Cys) rs781026181
NM_001127222.2(CACNA1A):c.3626G>A (p.Arg1209His) rs374286965
NM_001127222.2(CACNA1A):c.3626G>T (p.Arg1209Leu) rs374286965
NM_001127222.2(CACNA1A):c.3637G>A (p.Gly1213Ser) rs767000559
NM_001127222.2(CACNA1A):c.3637G>T (p.Gly1213Cys)
NM_001127222.2(CACNA1A):c.3643A>G (p.Lys1215Glu) rs1476884019
NM_001127222.2(CACNA1A):c.3646C>T (p.Pro1216Ser)
NM_001127222.2(CACNA1A):c.3650T>C (p.Met1217Thr)
NM_001127222.2(CACNA1A):c.3652C>T (p.Pro1218Ser)
NM_001127222.2(CACNA1A):c.3652_3653del (p.Pro1218fs)
NM_001127222.2(CACNA1A):c.3666C>T (p.Ser1222=) rs1600242610
NM_001127222.2(CACNA1A):c.3684G>C (p.Thr1228=)
NM_001127222.2(CACNA1A):c.3685A>G (p.Thr1229Ala)
NM_001127222.2(CACNA1A):c.3686C>A (p.Thr1229Asn)
NM_001127222.2(CACNA1A):c.3686C>T (p.Thr1229Ile)
NM_001127222.2(CACNA1A):c.3691C>T (p.Pro1231Ser)
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3692+7A>G
NM_001127222.2(CACNA1A):c.3692C>T (p.Pro1231Leu)
NM_001127222.2(CACNA1A):c.3693-19G>A
NM_001127222.2(CACNA1A):c.3693-20C>A
NM_001127222.2(CACNA1A):c.3693-3C>T
NM_001127222.2(CACNA1A):c.3693-4A>G
NM_001127222.2(CACNA1A):c.3693C>G (p.Pro1231=) rs1555751817
NM_001127222.2(CACNA1A):c.3697C>T (p.Arg1233Cys) rs2057333004
NM_001127222.2(CACNA1A):c.3701G>C (p.Arg1234Pro) rs373183625
NM_001127222.2(CACNA1A):c.3702C>T (p.Arg1234=) rs2144871814
NM_001127222.2(CACNA1A):c.3705G>A (p.Leu1235=)
NM_001127222.2(CACNA1A):c.3742_3744del (p.Cys1248del)
NM_001127222.2(CACNA1A):c.3756C>T (p.Val1252=)
NM_001127222.2(CACNA1A):c.3757A>T (p.Ile1253Phe) rs2144871593
NM_001127222.2(CACNA1A):c.3764T>C (p.Met1255Thr) rs1085307644
NM_001127222.2(CACNA1A):c.3765G>A (p.Met1255Ile) rs2144871559
NM_001127222.2(CACNA1A):c.3771C>T (p.Ser1257=) rs1600238829
NM_001127222.2(CACNA1A):c.3787G>A (p.Glu1263Lys) rs1555751762
NM_001127222.2(CACNA1A):c.3798G>A (p.Val1266=)
NM_001127222.2(CACNA1A):c.379A>G (p.Thr127Ala) rs2144947148
NM_001127222.2(CACNA1A):c.3807C>T (p.Asn1269=) rs557721660
NM_001127222.2(CACNA1A):c.3814C>A (p.Arg1272=) rs372970430
NM_001127222.2(CACNA1A):c.3815G>A (p.Arg1272Gln) rs2057331138
NM_001127222.2(CACNA1A):c.3817AAC[1] (p.Asn1274del) rs1085307864
NM_001127222.2(CACNA1A):c.3820A>G (p.Asn1274Asp) rs2144871278
NM_001127222.2(CACNA1A):c.3822+15G>C rs2144871142
NM_001127222.2(CACNA1A):c.3822+1G>A rs794727355
NM_001127222.2(CACNA1A):c.3822+20C>A rs1056191725
NM_001127222.2(CACNA1A):c.3822+6T>C
NM_001127222.2(CACNA1A):c.3822+70A>G rs1462524553
NM_001127222.2(CACNA1A):c.3822+9C>T
NM_001127222.2(CACNA1A):c.3823-16C>T
NM_001127222.2(CACNA1A):c.3823-1G>C
NM_001127222.2(CACNA1A):c.3823-4A>G
NM_001127222.2(CACNA1A):c.3823G>C (p.Val1275Leu) rs995835535
NM_001127222.2(CACNA1A):c.3825G>A (p.Val1275=)
NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter) rs121909323
NM_001127222.2(CACNA1A):c.3838_3841del (p.Asp1280fs) rs2144839766
NM_001127222.2(CACNA1A):c.383C>T (p.Pro128Leu)
NM_001127222.2(CACNA1A):c.3841T>A (p.Tyr1281Asn) rs1184262651
NM_001127222.2(CACNA1A):c.3844G>A (p.Val1282Ile)
NM_001127222.2(CACNA1A):c.3844G>C (p.Val1282Leu)
NM_001127222.2(CACNA1A):c.384G>A (p.Pro128=)
NM_001127222.2(CACNA1A):c.384G>T (p.Pro128=)
NM_001127222.2(CACNA1A):c.3851C>T (p.Thr1284Ile) rs2057169185
NM_001127222.2(CACNA1A):c.3853G>A (p.Gly1285Ser)
NM_001127222.2(CACNA1A):c.3855C>T (p.Gly1285=)
NM_001127222.2(CACNA1A):c.3873G>A (p.Met1291Ile) rs2144839595
NM_001127222.2(CACNA1A):c.3881A>T (p.Lys1294Met)
NM_001127222.2(CACNA1A):c.3882+15T>G
NM_001127222.2(CACNA1A):c.3882+2T>C rs2057168559
NM_001127222.2(CACNA1A):c.3883-12T>C
NM_001127222.2(CACNA1A):c.3883-13T>C rs2057137391
NM_001127222.2(CACNA1A):c.3883-14C>T
NM_001127222.2(CACNA1A):c.3883-16C>T
NM_001127222.2(CACNA1A):c.3883-5C>A rs748652953
NM_001127222.2(CACNA1A):c.3883-5C>G rs748652953
NM_001127222.2(CACNA1A):c.3883-6C>T rs1600224734
NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile) rs779292782
NM_001127222.2(CACNA1A):c.3922T>G (p.Phe1308Val) rs2144833436
NM_001127222.2(CACNA1A):c.3926G>A (p.Arg1309His) rs1568485102
NM_001127222.2(CACNA1A):c.3940A>G (p.Ile1314Val)
NM_001127222.2(CACNA1A):c.3946G>A (p.Asp1316Asn) rs1568485068
NM_001127222.2(CACNA1A):c.394C>T (p.Arg132Trp)
NM_001127222.2(CACNA1A):c.395G>A (p.Arg132Gln)
NM_001127222.2(CACNA1A):c.3964G>A (p.Gly1322Arg)
NM_001127222.2(CACNA1A):c.3970C>T (p.Leu1324=)
NM_001127222.2(CACNA1A):c.3978C>T (p.Ala1326=)
NM_001127222.2(CACNA1A):c.3984C>T (p.Ala1328=) rs2144833248
NM_001127222.2(CACNA1A):c.3989+10C>T rs1600224597
NM_001127222.2(CACNA1A):c.3989+13G>A rs373480312
NM_001127222.2(CACNA1A):c.3989+13G>T rs373480312
NM_001127222.2(CACNA1A):c.3989+19G>A
NM_001127222.2(CACNA1A):c.3989+1G>T rs587776693
NM_001127222.2(CACNA1A):c.3989+9C>T
NM_001127222.2(CACNA1A):c.399+15T>C rs1395412975
NM_001127222.2(CACNA1A):c.399+1G>A rs2060983144
NM_001127222.2(CACNA1A):c.399+4A>G
NM_001127222.2(CACNA1A):c.3990-16A>G rs2144773270
NM_001127222.2(CACNA1A):c.3990-18C>T
NM_001127222.2(CACNA1A):c.3990-20A>G
NM_001127222.2(CACNA1A):c.3990-2A>G rs1057524483
NM_001127222.2(CACNA1A):c.3990-4A>T
NM_001127222.2(CACNA1A):c.3990-9C>A
NM_001127222.2(CACNA1A):c.3990-9C>T
NM_001127222.2(CACNA1A):c.3998G>A (p.Ser1333Asn) rs2056768399
NM_001127222.2(CACNA1A):c.399G>C (p.Leu133=) rs2144947082
NM_001127222.2(CACNA1A):c.400-13C>G
NM_001127222.2(CACNA1A):c.400-14T>A rs779677432
NM_001127222.2(CACNA1A):c.400-15T>G
NM_001127222.2(CACNA1A):c.400-16C>T
NM_001127222.2(CACNA1A):c.400-18G>T rs2060943702
NM_001127222.2(CACNA1A):c.400-4C>T
NM_001127222.2(CACNA1A):c.4014C>T (p.Ile1338=)
NM_001127222.2(CACNA1A):c.4020G>A (p.Thr1340=)
NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro) rs2056768058
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr) rs2056767982
NM_001127222.2(CACNA1A):c.4028C>T (p.Ser1343Phe)
NM_001127222.2(CACNA1A):c.4032C>G (p.Leu1344=)
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter) rs1568473233
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4035_4043del (p.1346VLR[1])
NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp) rs1064794858
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4050A>T (p.Leu1350=)
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter) rs1568473171
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu) rs1064794808
NM_001127222.2(CACNA1A):c.4061A>C (p.Lys1354Thr)
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn) rs2056767062
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) rs2056767062
NM_001127222.2(CACNA1A):c.4067_4069del (p.Ile1356del)
NM_001127222.2(CACNA1A):c.4073G>A (p.Arg1358Gln)
NM_001127222.2(CACNA1A):c.4078C>T (p.Pro1360Ser)
NM_001127222.2(CACNA1A):c.4078delinsAT (p.Pro1360fs)
NM_001127222.2(CACNA1A):c.4083G>A (p.Lys1361=)
NM_001127222.2(CACNA1A):c.4085del (p.Leu1362fs) rs2144772838
NM_001127222.2(CACNA1A):c.4087A>G (p.Lys1363Glu) rs2144772824
NM_001127222.2(CACNA1A):c.4089+12A>C
NM_001127222.2(CACNA1A):c.4089+15T>C
NM_001127222.2(CACNA1A):c.4089+18T>C
NM_001127222.2(CACNA1A):c.4089+19G>A
NM_001127222.2(CACNA1A):c.4089+1G>A
NM_001127222.2(CACNA1A):c.4089+3G>T
NM_001127222.2(CACNA1A):c.4089+5_4089+6del rs368911651
NM_001127222.2(CACNA1A):c.4089+6A>T
NM_001127222.2(CACNA1A):c.4090-24CT[2]
NM_001127222.2(CACNA1A):c.4090-3C>T
NM_001127222.2(CACNA1A):c.4090-4A>G rs2144767685
NM_001127222.2(CACNA1A):c.4091C>A (p.Ala1364Asp)
NM_001127222.2(CACNA1A):c.4094T>A (p.Val1365Glu) rs2144767656
NM_001127222.2(CACNA1A):c.4095_4096del (p.Val1365_Phe1366insTer)
NM_001127222.2(CACNA1A):c.4102T>C (p.Cys1368Arg) rs886041909
NM_001127222.2(CACNA1A):c.4107G>A (p.Val1369=) rs1568472202
NM_001127222.2(CACNA1A):c.411A>G (p.Glu137=) rs148002271
NM_001127222.2(CACNA1A):c.4135A>T (p.Ile1379Phe) rs1600195869
NM_001127222.2(CACNA1A):c.4144G>T (p.Val1382Phe) rs2144767519
NM_001127222.2(CACNA1A):c.4154T>C (p.Leu1385Pro)
NM_001127222.2(CACNA1A):c.4166T>C (p.Ile1389Thr) rs2144767456
NM_001127222.2(CACNA1A):c.4171G>T (p.Ala1391Ser) rs1398841527
NM_001127222.2(CACNA1A):c.4172C>T (p.Ala1391Val)
NM_001127222.2(CACNA1A):c.4173_4174insATCTTC (p.Ala1391_Val1392insIlePhe) rs1600195777
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu) rs794727411
NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala) rs2144767386
NM_001127222.2(CACNA1A):c.4179G>A (p.Val1393=)
NM_001127222.2(CACNA1A):c.4193T>C (p.Phe1398Ser)
NM_001127222.2(CACNA1A):c.4194C>G (p.Phe1398Leu)
NM_001127222.2(CACNA1A):c.4197G>A (p.Lys1399=) rs1475353262
NM_001127222.2(CACNA1A):c.4199G>C (p.Gly1400Ala) rs1555745111
NM_001127222.2(CACNA1A):c.4202A>G (p.Lys1401Arg) rs2144767291
NM_001127222.2(CACNA1A):c.4203del (p.Lys1401fs)
NM_001127222.2(CACNA1A):c.4210C>T (p.His1404Tyr)
NM_001127222.2(CACNA1A):c.4215C>A (p.Cys1405Ter)
NM_001127222.2(CACNA1A):c.4228A>G (p.Lys1410Glu) rs932772664
NM_001127222.2(CACNA1A):c.4249C>T (p.Arg1417Ter) rs2056733130
NM_001127222.2(CACNA1A):c.4250+10C>T rs1340165763
NM_001127222.2(CACNA1A):c.4250+11A>G
NM_001127222.2(CACNA1A):c.4250+13T>C
NM_001127222.2(CACNA1A):c.4250+15T>C rs774357662
NM_001127222.2(CACNA1A):c.4250+15T>G
NM_001127222.2(CACNA1A):c.4250+16C>G
NM_001127222.2(CACNA1A):c.4250+19G>A
NM_001127222.2(CACNA1A):c.4251-17C>T
NM_001127222.2(CACNA1A):c.4251A>T (p.Arg1417=)
NM_001127222.2(CACNA1A):c.4261del (p.Leu1421fs)
NM_001127222.2(CACNA1A):c.4263C>A (p.Leu1421=)
NM_001127222.2(CACNA1A):c.4266C>A (p.Leu1422=)
NM_001127222.2(CACNA1A):c.4270G>T (p.Glu1424Ter)
NM_001127222.2(CACNA1A):c.4278T>C (p.Asn1426=)
NM_001127222.2(CACNA1A):c.4289C>T (p.Ala1430Val)
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=) rs555959123
NM_001127222.2(CACNA1A):c.4291C>T (p.Arg1431Ter) rs1568470104
NM_001127222.2(CACNA1A):c.4297C>A (p.Arg1433=) rs1275025158
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln) rs2144758462
NM_001127222.2(CACNA1A):c.4314T>C (p.Tyr1438=)
NM_001127222.2(CACNA1A):c.4322A>T (p.His1441Leu) rs2144758379
NM_001127222.2(CACNA1A):c.4324T>G (p.Tyr1442Asp) rs2056674737
NM_001127222.2(CACNA1A):c.4326C>T (p.Tyr1442=)
NM_001127222.2(CACNA1A):c.4327G>A (p.Asp1443Asn) rs1443877971
NM_001127222.2(CACNA1A):c.4328A>G (p.Asp1443Gly) rs2056674575
NM_001127222.2(CACNA1A):c.433T>G (p.Cys145Gly) rs2144936384
NM_001127222.2(CACNA1A):c.4345C>A (p.Leu1449Met)
NM_001127222.2(CACNA1A):c.4352C>G (p.Thr1451Ser)
NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met) rs121908237
NM_001127222.2(CACNA1A):c.4365G>T (p.Val1455=) rs2144758200
NM_001127222.2(CACNA1A):c.4366del (p.Ser1456fs) rs2144758193
NM_001127222.2(CACNA1A):c.436_437insG (p.Phe146fs)
NM_001127222.2(CACNA1A):c.4370C>T (p.Thr1457Met) rs2056673232
NM_001127222.2(CACNA1A):c.4388+11C>T
NM_001127222.2(CACNA1A):c.4388+13A>G
NM_001127222.2(CACNA1A):c.4388+16G>A
NM_001127222.2(CACNA1A):c.4388+3A>G
NM_001127222.2(CACNA1A):c.4388+6T>C
NM_001127222.2(CACNA1A):c.4389-19C>A
NM_001127222.2(CACNA1A):c.4389-1G>C rs1360397142
NM_001127222.2(CACNA1A):c.4389-28_4389-12dup
NM_001127222.2(CACNA1A):c.4389-2A>C
NM_001127222.2(CACNA1A):c.4389-5T>C rs896214992
NM_001127222.2(CACNA1A):c.4390G>A (p.Val1464Ile) rs2144748776
NM_001127222.2(CACNA1A):c.4392C>A (p.Val1464=) rs1458275517
NM_001127222.2(CACNA1A):c.4398G>A (p.Lys1466=) rs1555743957
NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys) rs1568659847
NM_001127222.2(CACNA1A):c.4426C>T (p.Gln1476Ter) rs1555743942
NM_001127222.2(CACNA1A):c.4434C>T (p.Pro1478=)
NM_001127222.2(CACNA1A):c.4443G>A (p.Gly1481=) rs750865024
NM_001127222.2(CACNA1A):c.4447C>T (p.Arg1483Cys) rs2144748587
NM_001127222.2(CACNA1A):c.4461C>G (p.Ser1487=)
NM_001127222.2(CACNA1A):c.4469A>G (p.Tyr1490Cys) rs1064795901
NM_001127222.2(CACNA1A):c.4471G>A (p.Val1491Ile)
NM_001127222.2(CACNA1A):c.4471GTC[1] (p.Val1492del)
NM_001127222.2(CACNA1A):c.4473C>T (p.Val1491=)
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del) rs886041279
NM_001127222.2(CACNA1A):c.4500C>T (p.Phe1500=) rs2144748402
NM_001127222.2(CACNA1A):c.4514T>C (p.Phe1505Ser) rs2144748340
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr) rs886037946
NM_001127222.2(CACNA1A):c.4519G>T (p.Ala1507Ser) rs886037946
NM_001127222.2(CACNA1A):c.4521C>T (p.Ala1507=)
NM_001127222.2(CACNA1A):c.4526TCA[2] (p.Ile1511del)
NM_001127222.2(CACNA1A):c.4535C>A (p.Thr1512Asn) rs2144748262
NM_001127222.2(CACNA1A):c.4549G>A (p.Gly1517Arg) rs2144748225
NM_001127222.2(CACNA1A):c.4550G>T (p.Gly1517Val) rs2144748218
NM_001127222.2(CACNA1A):c.4561A>G (p.Met1521Val) rs2144748158
NM_001127222.2(CACNA1A):c.4574G>A (p.Ser1525Asn) rs2056600119
NM_001127222.2(CACNA1A):c.4590+13A>C
NM_001127222.2(CACNA1A):c.4590+19T>C
NM_001127222.2(CACNA1A):c.4590+5C>G
NM_001127222.2(CACNA1A):c.4590+6A>G
NM_001127222.2(CACNA1A):c.4591-12TC[2]
NM_001127222.2(CACNA1A):c.4591-14C>G
NM_001127222.2(CACNA1A):c.4591-17T>C
NM_001127222.2(CACNA1A):c.4591-18C>G
NM_001127222.2(CACNA1A):c.4591-5del rs2056515046
NM_001127222.2(CACNA1A):c.4592G>A (p.Arg1531Lys) rs2144735318
NM_001127222.2(CACNA1A):c.4599C>A (p.Cys1533Ter) rs2144735303
NM_001127222.2(CACNA1A):c.4605T>G (p.Asp1535Glu)
NM_001127222.2(CACNA1A):c.4609G>T (p.Ala1537Ser)
NM_001127222.2(CACNA1A):c.4612A>C (p.Ile1538Leu)
NM_001127222.2(CACNA1A):c.4612A>G (p.Ile1538Val)
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4634G>A (p.Arg1545Gln) rs775048630
NM_001127222.2(CACNA1A):c.4634G>T (p.Arg1545Leu)
NM_001127222.2(CACNA1A):c.4636C>T (p.His1546Tyr) rs2144735184
NM_001127222.2(CACNA1A):c.4639A>G (p.Met1547Val)
NM_001127222.2(CACNA1A):c.4639A>T (p.Met1547Leu)
NM_001127222.2(CACNA1A):c.4647G>A (p.Gln1549=) rs2144735110
NM_001127222.2(CACNA1A):c.4654C>G (p.Gln1552Glu)
NM_001127222.2(CACNA1A):c.467G>T (p.Gly156Val)
NM_001127222.2(CACNA1A):c.4683C>G (p.Phe1561Leu) rs377082780
NM_001127222.2(CACNA1A):c.4684G>A (p.Val1562Met) rs1568465560
NM_001127222.2(CACNA1A):c.4684G>C (p.Val1562Leu) rs1568465560
NM_001127222.2(CACNA1A):c.4687G>T (p.Val1563Leu)
NM_001127222.2(CACNA1A):c.4693C>G (p.Pro1565Ala)
NM_001127222.2(CACNA1A):c.4701C>T (p.Phe1567=)
NM_001127222.2(CACNA1A):c.470T>C (p.Phe157Ser)
NM_001127222.2(CACNA1A):c.4710G>T (p.Thr1570=) rs761547761
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val) rs2056510928
NM_001127222.2(CACNA1A):c.4716G>A (p.Met1572Ile)
NM_001127222.2(CACNA1A):c.471dup (p.Ala158fs) rs1599289383
NM_001127222.2(CACNA1A):c.4720A>G (p.Met1574Val) rs1555743201
NM_001127222.2(CACNA1A):c.4726G>A (p.Ala1576Thr) rs2056510591
NM_001127222.2(CACNA1A):c.4738A>G (p.Ile1580Val)
NM_001127222.2(CACNA1A):c.4740C>T (p.Ile1580=) rs1415212677
NM_001127222.2(CACNA1A):c.4748TGA[1] (p.Met1584del)
NM_001127222.2(CACNA1A):c.4755+20C>T
NM_001127222.2(CACNA1A):c.4756-12T>G
NM_001127222.2(CACNA1A):c.4756-15G>A
NM_001127222.2(CACNA1A):c.4756-4del rs752161961
NM_001127222.2(CACNA1A):c.4756-7C>T
NM_001127222.2(CACNA1A):c.4758C>A (p.Phe1586Leu) rs2056445437
NM_001127222.2(CACNA1A):c.4791G>A (p.Leu1597=) rs2144726178
NM_001127222.2(CACNA1A):c.4792C>T (p.Arg1598Trp)
NM_001127222.2(CACNA1A):c.4795del (p.Val1599fs) rs2144726142
NM_001127222.2(CACNA1A):c.4797G>A (p.Val1599=)
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val) rs2056444576
NM_001127222.2(CACNA1A):c.4805T>C (p.Ile1602Thr) rs2056444494
NM_001127222.2(CACNA1A):c.480C>T (p.His160=)
NM_001127222.2(CACNA1A):c.4836T>C (p.Cys1612=) rs781413708
NM_001127222.2(CACNA1A):c.4836T>G (p.Cys1612Trp) rs781413708
NM_001127222.2(CACNA1A):c.4843A>G (p.Lys1615Glu) rs2056443467
NM_001127222.2(CACNA1A):c.4847T>C (p.Val1616Ala)
NM_001127222.2(CACNA1A):c.4860G>A (p.Gly1620=) rs2144725963
NM_001127222.2(CACNA1A):c.4866+11C>T
NM_001127222.2(CACNA1A):c.4866+18G>T
NM_001127222.2(CACNA1A):c.4866+19C>G
NM_001127222.2(CACNA1A):c.4866+1G>T rs2144725957
NM_001127222.2(CACNA1A):c.4867-11C>A
NM_001127222.2(CACNA1A):c.4867-13G>T
NM_001127222.2(CACNA1A):c.4867-18T>C rs2144692214
NM_001127222.2(CACNA1A):c.4867-6T>G rs2056196120
NM_001127222.2(CACNA1A):c.4867-7A>C
NM_001127222.2(CACNA1A):c.4867-8C>T rs1057522362
NM_001127222.2(CACNA1A):c.4874T>G (p.Phe1625Cys) rs771061659
NM_001127222.2(CACNA1A):c.4878C>T (p.Arg1626=)
NM_001127222.2(CACNA1A):c.4881T>C (p.Asp1627=) rs558064032
NM_001127222.2(CACNA1A):c.488C>T (p.Ser163Phe) rs1555789107
NM_001127222.2(CACNA1A):c.4899C>G (p.Asp1633Glu) rs2144692015
NM_001127222.2(CACNA1A):c.4902T>C (p.Phe1634=)
NM_001127222.2(CACNA1A):c.4908T>C (p.Thr1636=)
NM_001127222.2(CACNA1A):c.4917C>T (p.Gly1639=)
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.4927G>T (p.Asp1643Tyr)
NM_001127222.2(CACNA1A):c.492C>T (p.Tyr164=)
NM_001127222.2(CACNA1A):c.492del (p.Tyr164_Leu165insTer)
NM_001127222.2(CACNA1A):c.4938G>T (p.Val1646=)
NM_001127222.2(CACNA1A):c.493T>C (p.Leu165=) rs2144936227
NM_001127222.2(CACNA1A):c.4941T>A (p.Thr1647=)
NM_001127222.2(CACNA1A):c.4942G>C (p.Glu1648Gln) rs1417421667
NM_001127222.2(CACNA1A):c.4950+12T>C
NM_001127222.2(CACNA1A):c.4950+15A>C rs755685706
NM_001127222.2(CACNA1A):c.4950+15A>G rs755685706
NM_001127222.2(CACNA1A):c.4950+16G>T
NM_001127222.2(CACNA1A):c.4950+1G>T rs1568457080
NM_001127222.2(CACNA1A):c.4950+20C>T
NM_001127222.2(CACNA1A):c.4951-10A>C rs2055852187
NM_001127222.2(CACNA1A):c.4951-3del rs1600140005
NM_001127222.2(CACNA1A):c.4951-5C>A
NM_001127222.2(CACNA1A):c.4951A>G (p.Asn1651Asp)
NM_001127222.2(CACNA1A):c.4970G>T (p.Ser1657Ile)
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter) rs1555738369
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.4991C>G (p.Ala1664Gly)
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) rs1568447650
NM_001127222.2(CACNA1A):c.4998G>T (p.Arg1666=)
NM_001127222.2(CACNA1A):c.4999C>T (p.Leu1667Phe) rs2144649806
NM_001127222.2(CACNA1A):c.4G>T (p.Ala2Ser) rs2145193160
NM_001127222.2(CACNA1A):c.5001C>T (p.Leu1667=) rs755424786
NM_001127222.2(CACNA1A):c.5009T>G (p.Leu1670Arg)
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys) rs794727558
NM_001127222.2(CACNA1A):c.5018A>G (p.Gln1673Arg) rs2055850287
NM_001127222.2(CACNA1A):c.5021G>A (p.Gly1674Asp) rs895744093
NM_001127222.2(CACNA1A):c.5021del (p.Gly1674fs)
NM_001127222.2(CACNA1A):c.5029A>G (p.Ile1677Val) rs766623973
NM_001127222.2(CACNA1A):c.502G>A (p.Gly168Ser) rs2144936186
NM_001127222.2(CACNA1A):c.5032C>A (p.Arg1678Ser)
NM_001127222.2(CACNA1A):c.5033dup (p.Ile1679fs)
NM_001127222.2(CACNA1A):c.5051T>C (p.Phe1684Ser)
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met) rs1442400930
NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter) rs1600139781
NM_001127222.2(CACNA1A):c.5057A>G (p.Gln1686Arg) rs2055848608
NM_001127222.2(CACNA1A):c.5058G>C (p.Gln1686His)
NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe) rs1568447557
NM_001127222.2(CACNA1A):c.5067+10C>G rs549805937
NM_001127222.2(CACNA1A):c.5067+20G>C
NM_001127222.2(CACNA1A):c.5068-10T>C
NM_001127222.2(CACNA1A):c.5068-19T>C
NM_001127222.2(CACNA1A):c.5068-1G>A rs2144648058
NM_001127222.2(CACNA1A):c.5068-3C>T
NM_001127222.2(CACNA1A):c.5068-6dup
NM_001127222.2(CACNA1A):c.5072T>A (p.Leu1691Gln) rs2055835744
NM_001127222.2(CACNA1A):c.5077T>C (p.Tyr1693His)
NM_001127222.2(CACNA1A):c.5079T>C (p.Tyr1693=)
NM_001127222.2(CACNA1A):c.507G>A (p.Trp169Ter) rs2144936148
NM_001127222.2(CACNA1A):c.5080G>T (p.Val1694Phe)
NM_001127222.2(CACNA1A):c.5095G>C (p.Ala1699Pro) rs371273055
NM_001127222.2(CACNA1A):c.50C>G (p.Ser17Cys) rs931963287
NM_001127222.2(CACNA1A):c.5104T>C (p.Phe1702Leu) rs2055834394
NM_001127222.2(CACNA1A):c.5104TTC[1] (p.Phe1703del) rs2144647916
NM_001127222.2(CACNA1A):c.5106C>T (p.Phe1702=)
NM_001127222.2(CACNA1A):c.5112C>T (p.Ile1704=) rs1057521708
NM_001127222.2(CACNA1A):c.5115T>G (p.Tyr1705Ter) rs1600139005
NM_001127222.2(CACNA1A):c.5118C>T (p.Ala1706=) rs2144647886
NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu) rs2144647855
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.5127G>A (p.Gly1709=)
NM_001127222.2(CACNA1A):c.512T>A (p.Val171Asp)
NM_001127222.2(CACNA1A):c.5133+2T>A
NM_001127222.2(CACNA1A):c.5133+3G>A
NM_001127222.2(CACNA1A):c.5133+3G>C rs1320790447
NM_001127222.2(CACNA1A):c.5133+5G>A rs2144647781
NM_001127222.2(CACNA1A):c.5133+9C>T
NM_001127222.2(CACNA1A):c.5134-2del
NM_001127222.2(CACNA1A):c.5140G>C (p.Gly1714Arg)
NM_001127222.2(CACNA1A):c.5152A>T (p.Ile1718Phe)
NM_001127222.2(CACNA1A):c.5154C>G (p.Ile1718Met)
NM_001127222.2(CACNA1A):c.5159T>A (p.Val1720Glu)
NM_001127222.2(CACNA1A):c.5163G>A (p.Glu1721=) rs776192705
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly)
NM_001127222.2(CACNA1A):c.5167G>A (p.Glu1723Lys) rs931067957
NM_001127222.2(CACNA1A):c.5182G>A (p.Asp1728Asn) rs1436816057
NM_001127222.2(CACNA1A):c.5188T>C (p.Phe1730Leu)
NM_001127222.2(CACNA1A):c.5198C>T (p.Thr1733Ile) rs2144646721
NM_001127222.2(CACNA1A):c.51del (p.Ala19fs)
NM_001127222.2(CACNA1A):c.5215C>T (p.Arg1739Trp) rs2144646626
NM_001127222.2(CACNA1A):c.5216G>A (p.Arg1739Gln)
NM_001127222.2(CACNA1A):c.522T>C (p.Phe174=)
NM_001127222.2(CACNA1A):c.5233C>T (p.Leu1745Phe) rs2055823924
NM_001127222.2(CACNA1A):c.5236A>G (p.Met1746Val)
NM_001127222.2(CACNA1A):c.5238G>C (p.Met1746Ile) rs1210283621
NM_001127222.2(CACNA1A):c.5238dup (p.Leu1747fs)
NM_001127222.2(CACNA1A):c.523G>A (p.Val175Met)
NM_001127222.2(CACNA1A):c.5248C>A (p.Arg1750=)
NM_001127222.2(CACNA1A):c.5248C>G (p.Arg1750Gly)
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp) rs1568446845
NM_001127222.2(CACNA1A):c.5249+13C>A
NM_001127222.2(CACNA1A):c.5249+14C>T
NM_001127222.2(CACNA1A):c.5249+19C>T
NM_001127222.2(CACNA1A):c.5249+7A>C rs1600138314
NM_001127222.2(CACNA1A):c.5249G>A (p.Arg1750Gln) rs781588570
NM_001127222.2(CACNA1A):c.5249G>C (p.Arg1750Pro)
NM_001127222.2(CACNA1A):c.5250-2A>G
NM_001127222.2(CACNA1A):c.5251A>C (p.Ser1751Arg)
NM_001127222.2(CACNA1A):c.525G>C (p.Val175=) rs1231813346
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg) rs1555737113
NM_001127222.2(CACNA1A):c.5262G>A (p.Gly1754=)
NM_001127222.2(CACNA1A):c.526G>C (p.Val176Leu) rs1057521920
NM_001127222.2(CACNA1A):c.526del (p.Val176fs) rs2144936041
NM_001127222.2(CACNA1A):c.5273ACA[1] (p.Asn1759del) rs2055675454
NM_001127222.2(CACNA1A):c.5306C>T (p.Pro1769Leu)
NM_001127222.2(CACNA1A):c.5307G>A (p.Pro1769=)
NM_001127222.2(CACNA1A):c.5328C>G (p.Ile1776Met)
NM_001127222.2(CACNA1A):c.5335C>A (p.Arg1779=) rs2144629622
NM_001127222.2(CACNA1A):c.5348A>G (p.Asn1783Ser)
NM_001127222.2(CACNA1A):c.5356G>T (p.Ala1786Ser)
NM_001127222.2(CACNA1A):c.537G>A (p.Thr179=)
NM_001127222.2(CACNA1A):c.539+12G>C
NM_001127222.2(CACNA1A):c.539+14G>A rs1057523199
NM_001127222.2(CACNA1A):c.539+18T>A
NM_001127222.2(CACNA1A):c.539+8G>A rs372925573
NM_001127222.2(CACNA1A):c.539+9C>A rs369146237
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.540-13T>C
NM_001127222.2(CACNA1A):c.540-1G>C rs2144559526
NM_001127222.2(CACNA1A):c.540-6_540-3del
NM_001127222.2(CACNA1A):c.5400+17T>C
NM_001127222.2(CACNA1A):c.5401-10G>T rs370129945
NM_001127222.2(CACNA1A):c.5401-13G>A rs2144622540
NM_001127222.2(CACNA1A):c.5401-18T>C
NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr)
NM_001127222.2(CACNA1A):c.5408dup (p.Asn1803fs) rs2144622488
NM_001127222.2(CACNA1A):c.5416G>A (p.Val1806Ile)
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu) rs121908214
NM_001127222.2(CACNA1A):c.5425A>G (p.Ile1809Val)
NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr) rs2055612479
NM_001127222.2(CACNA1A):c.5439T>G (p.Phe1813Leu) rs1600127242
NM_001127222.2(CACNA1A):c.5452C>G (p.Arg1818Gly) rs267606696
NM_001127222.2(CACNA1A):c.5458T>C (p.Ser1820Pro)
NM_001127222.2(CACNA1A):c.5460C>T (p.Ser1820=)
NM_001127222.2(CACNA1A):c.5472C>A (p.Gly1824=) rs1804930573
NM_001127222.2(CACNA1A):c.5473C>T (p.Pro1825Ser)
NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg) rs2055610097
NM_001127222.2(CACNA1A):c.5477dup (p.His1826fs) rs2144622191
NM_001127222.2(CACNA1A):c.547G>A (p.Ala183Thr)
NM_001127222.2(CACNA1A):c.5484G>A (p.Leu1828=) rs2055609637
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
NM_001127222.2(CACNA1A):c.5498G>A (p.Arg1833His)
NM_001127222.2(CACNA1A):c.5498G>C (p.Arg1833Pro)
NM_001127222.2(CACNA1A):c.5506G>A (p.Ala1836Thr)
NM_001127222.2(CACNA1A):c.5509G>A (p.Glu1837Lys) rs1408989522
NM_001127222.2(CACNA1A):c.5511G>C (p.Glu1837Asp) rs1348448383
NM_001127222.2(CACNA1A):c.5521G>C (p.Ala1841Pro) rs753229469
NM_001127222.2(CACNA1A):c.5528+1270C>A
NM_001127222.2(CACNA1A):c.5528+12C>T
NM_001127222.2(CACNA1A):c.5528+15C>A
NM_001127222.2(CACNA1A):c.5528+17A>C
NM_001127222.2(CACNA1A):c.5529-1152C>T rs1425881157
NM_001127222.2(CACNA1A):c.5529-1153C>T rs1600124141
NM_001127222.2(CACNA1A):c.5529-1272T>G rs2144616954
NM_001127222.2(CACNA1A):c.5529-1276_5529-1274del rs1436224214
NM_001127222.2(CACNA1A):c.5529-1277T>C
NM_001127222.2(CACNA1A):c.5531G>A (p.Gly1844Asp)
NM_001127222.2(CACNA1A):c.5534G>A (p.Arg1845His)
NM_001127222.2(CACNA1A):c.55G>A (p.Ala19Thr) rs923359230
NM_001127222.2(CACNA1A):c.560C>T (p.Thr187Met) rs1015798325
NM_001127222.2(CACNA1A):c.5625+50CTT[4] rs143245670
NM_001127222.2(CACNA1A):c.5626-11G>T rs2055373094
NM_001127222.2(CACNA1A):c.5626-12G>T
NM_001127222.2(CACNA1A):c.5626-5T>C
NM_001127222.2(CACNA1A):c.562G>C (p.Glu188Gln) rs2059326934
NM_001127222.2(CACNA1A):c.5636G>A (p.Arg1879Gln) rs1010331313
NM_001127222.2(CACNA1A):c.5637del (p.Met1880fs) rs1600114562
NM_001127222.2(CACNA1A):c.5638A>C (p.Met1880Leu)
NM_001127222.2(CACNA1A):c.5642_5692del (p.Asp1881_Met1897del)
NM_001127222.2(CACNA1A):c.5644C>T (p.Leu1882=)
NM_001127222.2(CACNA1A):c.5649C>T (p.Pro1883=)
NM_001127222.2(CACNA1A):c.5653G>A (p.Ala1885Thr)
NM_001127222.2(CACNA1A):c.5667C>T (p.Thr1889=) rs750667873
NM_001127222.2(CACNA1A):c.5678A>G (p.Asn1893Ser)
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) rs757291476
NM_001127222.2(CACNA1A):c.5690T>G (p.Met1897Arg) rs2144595037
NM_001127222.2(CACNA1A):c.5695C>G (p.Leu1899Val) rs2055369392
NM_001127222.2(CACNA1A):c.5698A>G (p.Ile1900Val)
NM_001127222.2(CACNA1A):c.56C>A (p.Ala19Glu)
NM_001127222.2(CACNA1A):c.5700C>G (p.Ile1900Met)
NM_001127222.2(CACNA1A):c.5703C>A (p.Arg1901=) rs1600114408
NM_001127222.2(CACNA1A):c.5703C>T (p.Arg1901=)
NM_001127222.2(CACNA1A):c.5720A>G (p.Lys1907Arg) rs2144594984
NM_001127222.2(CACNA1A):c.5731+11G>A
NM_001127222.2(CACNA1A):c.5731+18G>A
NM_001127222.2(CACNA1A):c.5731G>A (p.Gly1911Arg) rs751603485
NM_001127222.2(CACNA1A):c.5732-11C>T
NM_001127222.2(CACNA1A):c.5732-12C>A
NM_001127222.2(CACNA1A):c.5732-19G>A
NM_001127222.2(CACNA1A):c.5732-7A>G
NM_001127222.2(CACNA1A):c.5732-9C>T
NM_001127222.2(CACNA1A):c.5733A>G (p.Gly1911=) rs758357771
NM_001127222.2(CACNA1A):c.5733A>T (p.Gly1911=)
NM_001127222.2(CACNA1A):c.5735G>A (p.Gly1912Glu) rs2054931821
NM_001127222.2(CACNA1A):c.5741A>G (p.Asp1914Gly)
NM_001127222.2(CACNA1A):c.5755G>A (p.Asp1919Asn) rs1064794441
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
NM_001127222.2(CACNA1A):c.5761G>A (p.Glu1921Lys) rs2144537759
NM_001127222.2(CACNA1A):c.5771A>C (p.Lys1924Thr) rs1181667215
NM_001127222.2(CACNA1A):c.5775G>A (p.Glu1925=) rs2144537672
NM_001127222.2(CACNA1A):c.5778G>A (p.Met1926Ile) rs1252683687
NM_001127222.2(CACNA1A):c.5779A>T (p.Met1927Leu) rs775982911
NM_001127222.2(CACNA1A):c.5794A>G (p.Asn1932Asp)
NM_001127222.2(CACNA1A):c.5803C>A (p.Gln1935Lys) rs2144537491
NM_001127222.2(CACNA1A):c.5809A>T (p.Thr1937Ser)
NM_001127222.2(CACNA1A):c.5814A>T (p.Leu1938=) rs1001682236
NM_001127222.2(CACNA1A):c.581T>C (p.Leu194Pro)
NM_001127222.2(CACNA1A):c.5821C>T (p.Leu1941=) rs2144537393
NM_001127222.2(CACNA1A):c.5839+1G>C rs951196653
NM_001127222.2(CACNA1A):c.5839+20C>T rs2144537107
NM_001127222.2(CACNA1A):c.5839+6A>C rs2144537255
NM_001127222.2(CACNA1A):c.5839+7G>A rs1568426023
NM_001127222.2(CACNA1A):c.5839+9T>G
NM_001127222.2(CACNA1A):c.5840-12G>T
NM_001127222.2(CACNA1A):c.5840-15TG[5] rs772598066
NM_001127222.2(CACNA1A):c.5840-17C>A rs556502230
NM_001127222.2(CACNA1A):c.5840-17C>T rs556502230
NM_001127222.2(CACNA1A):c.5840-19A>G
NM_001127222.2(CACNA1A):c.5840-2A>G rs2144536202
NM_001127222.2(CACNA1A):c.5840-2A>T rs2144536202
NM_001127222.2(CACNA1A):c.5840-3C>A
NM_001127222.2(CACNA1A):c.5840-8G>A rs2054921364
NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys) rs121908222
NM_001127222.2(CACNA1A):c.5857G>A (p.Gly1953Arg) rs2144536064
NM_001127222.2(CACNA1A):c.5861A>G (p.Lys1954Arg)
NM_001127222.2(CACNA1A):c.5865C>A (p.Ile1955=)
NM_001127222.2(CACNA1A):c.5869G>A (p.Ala1957Thr) rs1217161285
NM_001127222.2(CACNA1A):c.5874C>T (p.Ala1958=) rs2054919743
NM_001127222.2(CACNA1A):c.5876T>C (p.Met1959Thr) rs763611434
NM_001127222.2(CACNA1A):c.5879T>A (p.Met1960Lys)
NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile) rs1085307557
NM_001127222.2(CACNA1A):c.588A>G (p.Ala196=) rs1301991287
NM_001127222.2(CACNA1A):c.5896C>T (p.Arg1966Trp) rs1269205597
NM_001127222.2(CACNA1A):c.589G>A (p.Val197Ile) rs1005884911
NM_001127222.2(CACNA1A):c.5904C>T (p.Ser1968=) rs761152800
NM_001127222.2(CACNA1A):c.5907G>A (p.Lys1969=) rs1364247722
NM_001127222.2(CACNA1A):c.5913G>A (p.Lys1971=) rs990134708
NM_001127222.2(CACNA1A):c.5924C>A (p.Ala1975Asp)
NM_001127222.2(CACNA1A):c.5929C>T (p.Arg1977Cys)
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter) rs886042230
NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His) rs1057521547
NM_001127222.2(CACNA1A):c.5936A>C (p.Glu1979Ala)
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.5940+14C>A rs374115419
NM_001127222.2(CACNA1A):c.5940+15G>A rs370364972
NM_001127222.2(CACNA1A):c.5940+15G>C rs370364972
NM_001127222.2(CACNA1A):c.5940+18C>G rs1057522421
NM_001127222.2(CACNA1A):c.5940+1G>A rs2144535495
NM_001127222.2(CACNA1A):c.5940+6C>T rs909499550
NM_001127222.2(CACNA1A):c.5940+8G>C
NM_001127222.2(CACNA1A):c.5941-10C>A
NM_001127222.2(CACNA1A):c.5941-12C>T
NM_001127222.2(CACNA1A):c.5941-5C>G
NM_001127222.2(CACNA1A):c.5944C>T (p.Arg1982Trp)
NM_001127222.2(CACNA1A):c.5948C>T (p.Thr1983Ile) rs947850652
NM_001127222.2(CACNA1A):c.5952C>A (p.Pro1984=) rs1600090248
NM_001127222.2(CACNA1A):c.5953C>A (p.Leu1985Ile)
NM_001127222.2(CACNA1A):c.5953C>G (p.Leu1985Val)
NM_001127222.2(CACNA1A):c.5955C>A (p.Leu1985=) rs2054861464
NM_001127222.2(CACNA1A):c.5957T>C (p.Met1986Thr) rs2144526659
NM_001127222.2(CACNA1A):c.5961C>T (p.Phe1987=)
NM_001127222.2(CACNA1A):c.5962C>T (p.Gln1988Ter)
NM_001127222.2(CACNA1A):c.5964G>C (p.Gln1988His)
NM_001127222.2(CACNA1A):c.5967C>G (p.Arg1989=) rs2144526589
NM_001127222.2(CACNA1A):c.596T>C (p.Val199Ala)
NM_001127222.2(CACNA1A):c.596T>G (p.Val199Gly)
NM_001127222.2(CACNA1A):c.5976C>G (p.Pro1992=)
NM_001127222.2(CACNA1A):c.5984C>T (p.Pro1995Leu) rs1568424203
NM_001127222.2(CACNA1A):c.5988G>A (p.Thr1996=) rs17846933
NM_001127222.2(CACNA1A):c.5988G>C (p.Thr1996=)
NM_001127222.2(CACNA1A):c.5994A>C (p.Glu1998Asp) rs16045
NM_001127222.2(CACNA1A):c.5994_5996dup (p.Gly2000dup) rs2054858852
NM_001127222.2(CACNA1A):c.59C>T (p.Ala20Val)
NM_001127222.2(CACNA1A):c.6000A>G (p.Gly2000=)
NM_001127222.2(CACNA1A):c.6004G>A (p.Gly2002Ser) rs1568424111
NM_001127222.2(CACNA1A):c.601C>T (p.Arg201Trp) rs2144559282
NM_001127222.2(CACNA1A):c.6026C>A (p.Thr2009Asn) rs776574979
NM_001127222.2(CACNA1A):c.602G>A (p.Arg201Gln) rs2059326410
NM_001127222.2(CACNA1A):c.6035A>G (p.Asp2012Gly) rs2144526083
NM_001127222.2(CACNA1A):c.6046G>A (p.Ala2016Thr)
NM_001127222.2(CACNA1A):c.6050+14del rs755362952
NM_001127222.2(CACNA1A):c.6050+15T>C rs2144525883
NM_001127222.2(CACNA1A):c.6050+4_6050+7del rs2054856814
NM_001127222.2(CACNA1A):c.6051-11C>T rs759586410
NM_001127222.2(CACNA1A):c.6051-13del rs2144525353
NM_001127222.2(CACNA1A):c.6051-16del rs2144525359
NM_001127222.2(CACNA1A):c.6051-18C>T rs2144525399
NM_001127222.2(CACNA1A):c.6051-3C>A rs1318280840
NM_001127222.2(CACNA1A):c.6051-7C>G rs776664699
NM_001127222.2(CACNA1A):c.6058C>T (p.His2020Tyr) rs2144525195
NM_001127222.2(CACNA1A):c.6065G>A (p.Ser2022Asn) rs2144525162
NM_001127222.2(CACNA1A):c.6067G>C (p.Gly2023Arg)
NM_001127222.2(CACNA1A):c.6067G>T (p.Gly2023Cys) rs574805525
NM_001127222.2(CACNA1A):c.6073A>C (p.Lys2025Gln) rs2144525077
NM_001127222.2(CACNA1A):c.6079A>G (p.Ser2027Gly) rs2054851950
NM_001127222.2(CACNA1A):c.6083C>T (p.Pro2028Leu) rs370345937
NM_001127222.2(CACNA1A):c.6103G>T (p.Ala2035Ser)
NM_001127222.2(CACNA1A):c.6105C>T (p.Ala2035=) rs2144524908
NM_001127222.2(CACNA1A):c.6113T>C (p.Met2038Thr)
NM_001127222.2(CACNA1A):c.611A>G (p.Lys204Arg) rs2144559219
NM_001127222.2(CACNA1A):c.6132A>G (p.Thr2044=) rs1333411586
NM_001127222.2(CACNA1A):c.6137G>T (p.Ser2046Ile)
NM_001127222.2(CACNA1A):c.6149G>T (p.Gly2050Val) rs2054848687
NM_001127222.2(CACNA1A):c.6155dup (p.Thr2053fs) rs1158454977
NM_001127222.2(CACNA1A):c.6158C>A (p.Thr2053Asn)
NM_001127222.2(CACNA1A):c.6159C>A (p.Thr2053=) rs767440240
NM_001127222.2(CACNA1A):c.6159C>T (p.Thr2053=) rs767440240
NM_001127222.2(CACNA1A):c.616G>A (p.Val206Met) rs2144559196
NM_001127222.2(CACNA1A):c.6172A>G (p.Ser2058Gly)
NM_001127222.2(CACNA1A):c.6173G>C (p.Ser2058Thr) rs1600089299
NM_001127222.2(CACNA1A):c.6180T>C (p.Pro2060=) rs2054847037
NM_001127222.2(CACNA1A):c.6181A>C (p.Asn2061His) rs974724726
NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs) rs2144524434
NM_001127222.2(CACNA1A):c.6183C>T (p.Asn2061=)
NM_001127222.2(CACNA1A):c.6188A>G (p.Gln2063Arg)
NM_001127222.2(CACNA1A):c.6189+10T>C
NM_001127222.2(CACNA1A):c.6189+10_6189+65del
NM_001127222.2(CACNA1A):c.6189+17A>G
NM_001127222.2(CACNA1A):c.6189+1G>A rs2144524396
NM_001127222.2(CACNA1A):c.6189+3G>A
NM_001127222.2(CACNA1A):c.6189+4C>A rs2054846468
NM_001127222.2(CACNA1A):c.6189+6T>C
NM_001127222.2(CACNA1A):c.6189+74A>C rs16048
NM_001127222.2(CACNA1A):c.6189+8T>C rs1600089260
NM_001127222.2(CACNA1A):c.618G>A (p.Val206=)
NM_001127222.2(CACNA1A):c.6190-13A>G rs1600088809
NM_001127222.2(CACNA1A):c.6190-2A>C rs1064796709
NM_001127222.2(CACNA1A):c.6190-8C>T
NM_001127222.2(CACNA1A):c.6195G>A (p.Val2065=)
NM_001127222.2(CACNA1A):c.6198G>A (p.Glu2066=) rs1600088725
NM_001127222.2(CACNA1A):c.6199A>G (p.Met2067Val)
NM_001127222.2(CACNA1A):c.6202C>G (p.Arg2068Gly) rs779221807
NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter) rs779221807
NM_001127222.2(CACNA1A):c.6205G>A (p.Glu2069Lys) rs543458967
NM_001127222.2(CACNA1A):c.6209T>C (p.Met2070Thr) rs2144523250
NM_001127222.2(CACNA1A):c.620C>T (p.Ser207Phe)
NM_001127222.2(CACNA1A):c.6212_6221del (p.Gly2071fs)
NM_001127222.2(CACNA1A):c.6214A>G (p.Arg2072Gly) rs541830363
NM_001127222.2(CACNA1A):c.6230A>T (p.Asp2077Val) rs2144523108
NM_001127222.2(CACNA1A):c.6232A>G (p.Ser2078Gly)
NM_001127222.2(CACNA1A):c.6233G>A (p.Ser2078Asn)
NM_001127222.2(CACNA1A):c.623G>C (p.Gly208Ala) rs2144559143
NM_001127222.2(CACNA1A):c.6240C>G (p.His2080Gln) rs2054835310
NM_001127222.2(CACNA1A):c.6243C>T (p.Tyr2081=)
NM_001127222.2(CACNA1A):c.6247C>T (p.Pro2083Ser) rs1244966977
NM_001127222.2(CACNA1A):c.6250A>G (p.Met2084Val) rs1451713531
NM_001127222.2(CACNA1A):c.6263G>C (p.Gly2088Ala) rs759252101
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=) rs200093958
NM_001127222.2(CACNA1A):c.6265C>T (p.Arg2089Trp)
NM_001127222.2(CACNA1A):c.6271G>A (p.Ala2091Thr)
NM_001127222.2(CACNA1A):c.6275C>A (p.Ser2092Tyr) rs2144522850
NM_001127222.2(CACNA1A):c.6277A>G (p.Met2093Val)
NM_001127222.2(CACNA1A):c.6284G>A (p.Arg2095His)
NM_001127222.2(CACNA1A):c.6291T>C (p.Pro2097=)
NM_001127222.2(CACNA1A):c.6292G>C (p.Ala2098Pro) rs2144522708
NM_001127222.2(CACNA1A):c.6303+12C>T
NM_001127222.2(CACNA1A):c.6303+17C>G
NM_001127222.2(CACNA1A):c.6303+18T>C
NM_001127222.2(CACNA1A):c.6303+3G>A
NM_001127222.2(CACNA1A):c.6303+5G>A
NM_001127222.2(CACNA1A):c.6303+94del rs3217380
NM_001127222.2(CACNA1A):c.6304-13G>A
NM_001127222.2(CACNA1A):c.6304-15A>T
NM_001127222.2(CACNA1A):c.6304-18C>T rs933016243
NM_001127222.2(CACNA1A):c.6304-6T>G
NM_001127222.2(CACNA1A):c.6304-9C>G rs928691437
NM_001127222.2(CACNA1A):c.6305G>A (p.Arg2102Lys) rs866974416
NM_001127222.2(CACNA1A):c.6306G>A (p.Arg2102=) rs557017447
NM_001127222.2(CACNA1A):c.631+15G>C
NM_001127222.2(CACNA1A):c.631+18C>T
NM_001127222.2(CACNA1A):c.631+2T>C
NM_001127222.2(CACNA1A):c.631+4C>T rs1568581241
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.631+9G>A
NM_001127222.2(CACNA1A):c.6317G>T (p.Arg2106Leu) rs373229577
NM_001127222.2(CACNA1A):c.632-15T>A rs2144523661
NM_001127222.2(CACNA1A):c.632-20CT[3]
NM_001127222.2(CACNA1A):c.632-3C>T
NM_001127222.2(CACNA1A):c.632-3dup rs2059191701
NM_001127222.2(CACNA1A):c.632-5C>T rs1310830010
NM_001127222.2(CACNA1A):c.632-7C>A rs1555774874
NM_001127222.2(CACNA1A):c.632-7C>T
NM_001127222.2(CACNA1A):c.632-8C>G rs762951690
NM_001127222.2(CACNA1A):c.6321A>C (p.Pro2107=) rs2054776841
NM_001127222.2(CACNA1A):c.6322C>A (p.Arg2108Ser) rs758498629
NM_001127222.2(CACNA1A):c.6322C>T (p.Arg2108Cys)
NM_001127222.2(CACNA1A):c.6323G>A (p.Arg2108His) rs867865729
NM_001127222.2(CACNA1A):c.6339+10G>T rs376238265
NM_001127222.2(CACNA1A):c.6339+13C>T
NM_001127222.2(CACNA1A):c.6339+16G>A
NM_001127222.2(CACNA1A):c.6339+4T>C rs2054775532
NM_001127222.2(CACNA1A):c.6339+4T>G
NM_001127222.2(CACNA1A):c.6339+5G>C rs2144513372
NM_001127222.2(CACNA1A):c.6340-17C>T
NM_001127222.2(CACNA1A):c.6340-5C>G rs991192417
NM_001127222.2(CACNA1A):c.6340-7C>T rs765609971
NM_001127222.2(CACNA1A):c.6340A>G (p.Thr2114Ala)
NM_001127222.2(CACNA1A):c.6340A>T (p.Thr2114Ser) rs2054722290
NM_001127222.2(CACNA1A):c.6343_6345dup (p.Ile2115dup) rs2144506658
NM_001127222.2(CACNA1A):c.6357C>T (p.Ser2119=) rs866806995
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser) rs2054721635
NM_001127222.2(CACNA1A):c.6361A>T (p.Met2121Leu) rs1317004203
NM_001127222.2(CACNA1A):c.6366G>A (p.Lys2122=) rs1208181261
NM_001127222.2(CACNA1A):c.6367C>T (p.Arg2123Cys) rs1255940553
NM_001127222.2(CACNA1A):c.6368G>A (p.Arg2123His) rs1220294928
NM_001127222.2(CACNA1A):c.6371C>A (p.Ser2124Ter) rs2144506487
NM_001127222.2(CACNA1A):c.6384G>A (p.Leu2128=)
NM_001127222.2(CACNA1A):c.6385G>C (p.Gly2129Arg) rs1369133711
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter) rs1555730878
NM_001127222.2(CACNA1A):c.6397_6403del (p.Arg2133fs) rs2144506286
NM_001127222.2(CACNA1A):c.6397del (p.Arg2133fs)
NM_001127222.2(CACNA1A):c.63C>A (p.Ala21=) rs946116668
NM_001127222.2(CACNA1A):c.6408C>A (p.Asp2136Glu)
NM_001127222.2(CACNA1A):c.6409G>A (p.Asp2137Asn) rs755880731
NM_001127222.2(CACNA1A):c.6419T>G (p.Leu2140Arg)
NM_001127222.2(CACNA1A):c.6422A>G (p.Glu2141Gly)
NM_001127222.2(CACNA1A):c.6424C>A (p.Arg2142=)
NM_001127222.2(CACNA1A):c.6424C>T (p.Arg2142Trp)
NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln) rs1268148205
NM_001127222.2(CACNA1A):c.6435C>G (p.Pro2145=)
NM_001127222.2(CACNA1A):c.6435dup (p.Glu2146fs)
NM_001127222.2(CACNA1A):c.6436GAG[1] (p.Glu2147del)
NM_001127222.2(CACNA1A):c.643G>A (p.Val215Ile) rs1555774867
NM_001127222.2(CACNA1A):c.6448C>G (p.Arg2150Gly) rs756780624
NM_001127222.2(CACNA1A):c.6452_6463del (p.His2151_Arg2154del) rs1469809752
NM_001127222.2(CACNA1A):c.6461G>A (p.Arg2154Gln)
NM_001127222.2(CACNA1A):c.6461G>T (p.Arg2154Leu) rs754317278
NM_001127222.2(CACNA1A):c.6462_6494del (p.Arg2155_Arg2165del)
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His) rs572722130
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly) rs554393704
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) rs554393704
NM_001127222.2(CACNA1A):c.6473G>T (p.Arg2158Leu)
NM_001127222.2(CACNA1A):c.6474C>A (p.Arg2158=) rs368016666
NM_001127222.2(CACNA1A):c.6477C>T (p.Ser2159=)
NM_001127222.2(CACNA1A):c.6478C>T (p.His2160Tyr)
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr) rs17846928
NM_001127222.2(CACNA1A):c.6488_6489del (p.Ala2162_Ser2163insTer)
NM_001127222.2(CACNA1A):c.64G>A (p.Gly22Arg)
NM_001127222.2(CACNA1A):c.6503G>C (p.Gly2168Ala)
NM_001127222.2(CACNA1A):c.6505C>G (p.Arg2169Gly) rs375354077
NM_001127222.2(CACNA1A):c.6506G>T (p.Arg2169Leu) rs1417890059
NM_001127222.2(CACNA1A):c.6512C>T (p.Thr2171Ile)
NM_001127222.2(CACNA1A):c.6514G>A (p.Asp2172Asn) rs370289732
NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr) rs370289732
NM_001127222.2(CACNA1A):c.6516T>C (p.Asp2172=)
NM_001127222.2(CACNA1A):c.6523A>C (p.Thr2175Pro)
NM_001127222.2(CACNA1A):c.6526+11C>A
NM_001127222.2(CACNA1A):c.6526+124G>C rs2304093
NM_001127222.2(CACNA1A):c.6526+13G>A
NM_001127222.2(CACNA1A):c.6526+16G>A rs2144505254
NM_001127222.2(CACNA1A):c.6526+7A>C rs972428713
NM_001127222.2(CACNA1A):c.6527-10C>A
NM_001127222.2(CACNA1A):c.6527-11A>G
NM_001127222.2(CACNA1A):c.6527-4C>T
NM_001127222.2(CACNA1A):c.6527-7G>A rs1555730686
NM_001127222.2(CACNA1A):c.6527G>A (p.Gly2176Asp)
NM_001127222.2(CACNA1A):c.6528C>T (p.Gly2176=) rs2054695798
NM_001127222.2(CACNA1A):c.6529T>C (p.Leu2177=)
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.6540C>T (p.Asp2180=) rs2144502990
NM_001127222.2(CACNA1A):c.6542T>C (p.Leu2181Pro) rs2144502972
NM_001127222.2(CACNA1A):c.6544A>T (p.Ser2182Cys)
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127222.2(CACNA1A):c.6557A>T (p.Gln2186Leu)
NM_001127222.2(CACNA1A):c.655A>T (p.Ile219Phe) rs2059190992
NM_001127222.2(CACNA1A):c.6561C>A (p.Ser2187=) rs371116746
NM_001127222.2(CACNA1A):c.6565G>A (p.Asp2189Asn) rs2144502827
NM_001127222.2(CACNA1A):c.6565del (p.Asp2189fs)
NM_001127222.2(CACNA1A):c.6572C>A (p.Pro2191Gln)
NM_001127222.2(CACNA1A):c.6576G>A (p.Ser2192=) rs770657980
NM_001127222.2(CACNA1A):c.6579G>A (p.Lys2193=)
NM_001127222.2(CACNA1A):c.6583C>T (p.Arg2195Trp) rs1463901630
NM_001127222.2(CACNA1A):c.6584G>T (p.Arg2195Leu) rs373192655
NM_001127222.2(CACNA1A):c.6585G>C (p.Arg2195=) rs2144502704
NM_001127222.2(CACNA1A):c.6587_6598del (p.Asp2196_Arg2199del) rs763941704
NM_001127222.2(CACNA1A):c.6587_6598dup (p.Arg2199_Gly2200insAspGlnGluArg)
NM_001127222.2(CACNA1A):c.658A>G (p.Met220Val)
NM_001127222.2(CACNA1A):c.6590_6601dup (p.Gly2200_Arg2201insGlnGluArgGly)
NM_001127222.2(CACNA1A):c.6591G>T (p.Gln2197His) rs2054692765
NM_001127222.2(CACNA1A):c.6599G>C (p.Gly2200Ala) rs1163864338
NM_001127222.2(CACNA1A):c.65G>A (p.Gly22Glu) rs1983011989
NM_001127222.2(CACNA1A):c.65G>C (p.Gly22Ala) rs1983011989
NM_001127222.2(CACNA1A):c.6603G>A (p.Arg2201=)
NM_001127222.2(CACNA1A):c.6609G>C (p.Lys2203Asn) rs1276672646
NM_001127222.2(CACNA1A):c.6613C>G (p.Arg2205Gly) rs780467849
NM_001127222.2(CACNA1A):c.6613C>T (p.Arg2205Trp) rs780467849
NM_001127222.2(CACNA1A):c.6615G>A (p.Arg2205=) rs2054690020
NM_001127222.2(CACNA1A):c.6622C>G (p.Arg2208Gly)
NM_001127222.2(CACNA1A):c.6623G>A (p.Arg2208Gln)
NM_001127222.2(CACNA1A):c.6623_6628dup (p.Arg2208_Gln2209dup) rs1247003992
NM_001127222.2(CACNA1A):c.6623_6631dup (p.Arg2208_His2210dup) rs1305974321
NM_001127222.2(CACNA1A):c.6627G>C (p.Gln2209His)
NM_001127222.2(CACNA1A):c.6627dup (p.His2210fs) rs1568419053
NM_001127222.2(CACNA1A):c.6630C>G (p.His2210Gln) rs1006425986
NM_001127222.2(CACNA1A):c.6630CCA[7] (p.His2218_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6633C>G (p.His2211Gln) rs775606907
NM_001127222.2(CACNA1A):c.6634C>G (p.His2212Asp)
NM_001127222.2(CACNA1A):c.6636C>T (p.His2212=) rs1379281681
NM_001127222.2(CACNA1A):c.6640C>A (p.His2214Asn) rs905447472
NM_001127222.2(CACNA1A):c.6641A>G (p.His2214Arg) rs1600079735
NM_001127222.2(CACNA1A):c.6642C>T (p.His2214=)
NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del) rs770368215
NM_001127222.2(CACNA1A):c.6649C>T (p.His2217Tyr) rs2054687055
NM_001127222.2(CACNA1A):c.6650A>T (p.His2217Leu) rs2054686938
NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del) rs776181081
NM_001127222.2(CACNA1A):c.6651C>T (p.His2217=)
NM_001127222.2(CACNA1A):c.6652C>T (p.His2218Tyr)
NM_001127222.2(CACNA1A):c.6652_6653insCCCACC (p.His2217_His2218insProHis)
NM_001127222.2(CACNA1A):c.6655C>A (p.His2219Asn) rs1307304917
NM_001127222.2(CACNA1A):c.6656_6657delinsCC (p.His2219Pro) rs1085307607
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del) rs749638821
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6658_6659insACCACC (p.His2219_Pro2220insHisHis)
NM_001127222.2(CACNA1A):c.6659ACC[3] (p.His2217_His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6659ACC[6] (p.His2219_Pro2220insHisHisHisHisHisHis)
NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His) rs16052
NM_001127222.2(CACNA1A):c.6664C>T (p.Pro2222Ser)
NM_001127222.2(CACNA1A):c.6666C>T (p.Pro2222=) rs1196254519
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=) rs2304094
NM_001127222.2(CACNA1A):c.666G>A (p.Ala222=)
NM_001127222.2(CACNA1A):c.666G>C (p.Ala222=)
NM_001127222.2(CACNA1A):c.6670G>A (p.Asp2224Asn)
NM_001127222.2(CACNA1A):c.6672C>T (p.Asp2224=)
NM_001127222.2(CACNA1A):c.6678C>A (p.Asp2226Glu) rs1181604906
NM_001127222.2(CACNA1A):c.6678C>T (p.Asp2226=)
NM_001127222.2(CACNA1A):c.6679C>A (p.Arg2227Ser)
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His) rs1064793075
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu) rs1064793075
NM_001127222.2(CACNA1A):c.6686C>G (p.Ala2229Gly)
NM_001127222.2(CACNA1A):c.6689A>G (p.Gln2230Arg) rs936533797
NM_001127222.2(CACNA1A):c.6690G>A (p.Gln2230=) rs2144501238
NM_001127222.2(CACNA1A):c.6691del (p.Glu2231fs) rs2144501233
NM_001127222.2(CACNA1A):c.6696_6697delinsTT (p.Pro2233Ser)
NM_001127222.2(CACNA1A):c.6697C>T (p.Pro2233Ser)
NM_001127222.2(CACNA1A):c.6697_6700dup (p.Asp2234fs)
NM_001127222.2(CACNA1A):c.6701A>T (p.Asp2234Val)
NM_001127222.2(CACNA1A):c.6701_6711dup (p.Ala2238fs)
NM_001127222.2(CACNA1A):c.6702C>T (p.Asp2234=)
NM_001127222.2(CACNA1A):c.6703C>G (p.His2235Asp)
NM_001127222.2(CACNA1A):c.6703C>T (p.His2235Tyr) rs903913051
NM_001127222.2(CACNA1A):c.6704A>G (p.His2235Arg) rs758639263
NM_001127222.2(CACNA1A):c.6706G>T (p.Gly2236Cys) rs752808137
NM_001127222.2(CACNA1A):c.6710G>A (p.Arg2237Gln) rs765309213
NM_001127222.2(CACNA1A):c.6710G>T (p.Arg2237Leu) rs765309213
NM_001127222.2(CACNA1A):c.6710_6719del (p.Arg2237fs) rs1042488847
NM_001127222.2(CACNA1A):c.6712_6735dup (p.Trp2245_Ser2246insAlaArgAlaArgAspGlnArgTrp)
NM_001127222.2(CACNA1A):c.6714_6719dup (p.2238AR[3]) rs1042488847
NM_001127222.2(CACNA1A):c.6721C>G (p.Arg2241Gly)
NM_001127222.2(CACNA1A):c.6721C>T (p.Arg2241Trp) rs760428308
NM_001127222.2(CACNA1A):c.6722G>C (p.Arg2241Pro)
NM_001127222.2(CACNA1A):c.6723G>C (p.Arg2241=)
NM_001127222.2(CACNA1A):c.6724G>A (p.Asp2242Asn) rs2054681171
NM_001127222.2(CACNA1A):c.6729G>C (p.Gln2243His) rs774078430
NM_001127222.2(CACNA1A):c.6729G>T (p.Gln2243His) rs774078430
NM_001127222.2(CACNA1A):c.672C>T (p.Ile224=) rs771429351
NM_001127222.2(CACNA1A):c.6730C>T (p.Arg2244Cys) rs1021438528
NM_001127222.2(CACNA1A):c.6732C>G (p.Arg2244=)
NM_001127222.2(CACNA1A):c.6735G>T (p.Trp2245Cys) rs2054680655
NM_001127222.2(CACNA1A):c.6739C>T (p.Arg2247Cys) rs1265035474
NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg) rs2059190701
NM_001127222.2(CACNA1A):c.6752A>G (p.Glu2251Gly)
NM_001127222.2(CACNA1A):c.6754G>T (p.Gly2252Cys) rs1433873178
NM_001127222.2(CACNA1A):c.6755G>C (p.Gly2252Ala)
NM_001127222.2(CACNA1A):c.6757C>G (p.Arg2253Gly)
NM_001127222.2(CACNA1A):c.6758G>T (p.Arg2253Leu) rs752950486
NM_001127222.2(CACNA1A):c.6766A>G (p.Met2256Val)
NM_001127222.2(CACNA1A):c.676_784+1178del
NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=) rs753884600
NM_001127222.2(CACNA1A):c.6771G>T (p.Ala2257=) rs753884600
NM_001127222.2(CACNA1A):c.6773A>G (p.His2258Arg)
NM_001127222.2(CACNA1A):c.6775C>A (p.Arg2259=) rs750267834
NM_001127222.2(CACNA1A):c.6775C>T (p.Arg2259Trp) rs750267834
NM_001127222.2(CACNA1A):c.6776G>C (p.Arg2259Pro) rs201582095
NM_001127222.2(CACNA1A):c.6780+13_6780+14delinsTT rs2144500224
NM_001127222.2(CACNA1A):c.6780+19G>A
NM_001127222.2(CACNA1A):c.6780+3G>C rs1307510001
NM_001127222.2(CACNA1A):c.6780+8C>A rs774169958
NM_001127222.2(CACNA1A):c.6784_6788del (p.Ser2262fs)
NM_001127222.2(CACNA1A):c.6785G>A (p.Ser2262Asn) rs2054633316
NM_001127222.2(CACNA1A):c.678G>A (p.Leu226=) rs2144523263
NM_001127222.2(CACNA1A):c.682C>T (p.Gln228Ter)
NM_001127222.2(CACNA1A):c.685A>G (p.Ile229Val) rs2059190527
NM_001127222.2(CACNA1A):c.6862del (p.Gln2288fs) rs2144493067
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser) rs1555774859
NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg) rs1555774859
NM_001127222.2(CACNA1A):c.6901C>G (p.Pro2301Ala) rs1351010453
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg) rs1599292506
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[4] (p.Gln2317_Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.698T>C (p.Leu233Pro) rs2059190252
NM_001127222.2(CACNA1A):c.7055A>G (p.Asp2352Gly)
NM_001127222.2(CACNA1A):c.712_726dup (p.Leu238_Ile242dup) rs1568574602
NM_001127222.2(CACNA1A):c.7133A>C (p.Glu2378Ala)
NM_001127222.2(CACNA1A):c.7136C>T (p.Ser2379Phe) rs2054617641
NM_001127222.2(CACNA1A):c.7235G>T (p.Gly2412Val) rs775829854
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001127222.2(CACNA1A):c.7316C>T (p.Pro2439Leu) rs1235870142
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)
NM_001127222.2(CACNA1A):c.7348C>T (p.Arg2450Cys) rs1397153104
NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro) rs1199275549
NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg) rs2144488387
NM_001127222.2(CACNA1A):c.7485C>G (p.His2495Gln)
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr) rs121908228
NM_001127222.2(CACNA1A):c.75G>C (p.Val25=)
NM_001127222.2(CACNA1A):c.760A>G (p.Thr254Ala) rs2059189603
NM_001127222.2(CACNA1A):c.767G>T (p.Cys256Phe) rs2059189489
NM_001127222.2(CACNA1A):c.76G>T (p.Gly26Cys)
NM_001127222.2(CACNA1A):c.773A>C (p.Glu258Ala) rs2059189452
NM_001127222.2(CACNA1A):c.781del (p.Thr261fs) rs2059189334
NM_001127222.2(CACNA1A):c.784+16A>T rs1445259892
NM_001127222.2(CACNA1A):c.784+4G>A
NM_001127222.2(CACNA1A):c.784G>C (p.Asp262His)
NM_001127222.2(CACNA1A):c.785-17C>G
NM_001127222.2(CACNA1A):c.785-3T>C rs2145245902
NM_001127222.2(CACNA1A):c.785-6T>C
NM_001127222.2(CACNA1A):c.788A>T (p.Asp263Val) rs2059070159
NM_001127222.2(CACNA1A):c.78C>A (p.Gly26=)
NM_001127222.2(CACNA1A):c.79A>G (p.Ser27Gly)
NM_001127222.2(CACNA1A):c.7C>G (p.Arg3Gly) rs1326606155
NM_001127222.2(CACNA1A):c.800A>G (p.Glu267Gly)
NM_001127222.2(CACNA1A):c.806C>T (p.Pro269Leu) rs763911399
NM_001127222.2(CACNA1A):c.80G>T (p.Ser27Ile)
NM_001127222.2(CACNA1A):c.810T>C (p.Ala270=)
NM_001127222.2(CACNA1A):c.815G>A (p.Cys272Tyr) rs771682941
NM_001127222.2(CACNA1A):c.819G>C (p.Gly273=)
NM_001127222.2(CACNA1A):c.831C>G (p.Pro277=) rs568635317
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr) rs1013100046
NM_001127222.2(CACNA1A):c.835C>A (p.Arg279Ser)
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs) rs2145245595
NM_001127222.2(CACNA1A):c.843C>T (p.Cys281=) rs2145245583
NM_001127222.2(CACNA1A):c.851G>T (p.Gly284Val) rs1555773757
NM_001127222.2(CACNA1A):c.867C>G (p.Pro289=) rs777059446
NM_001127222.2(CACNA1A):c.876dup (p.Gly293fs) rs2145245392
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) rs121908215
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg) rs1168625480
NM_001127222.2(CACNA1A):c.8G>A (p.Arg3His)
NM_001127222.2(CACNA1A):c.901T>C (p.Phe301Leu) rs1599276954
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly) rs2059067761
NM_001127222.2(CACNA1A):c.90G>A (p.Gly30=)
NM_001127222.2(CACNA1A):c.913C>T (p.Leu305=) rs1599276914
NM_001127222.2(CACNA1A):c.91C>A (p.Arg31=)
NM_001127222.2(CACNA1A):c.928_931del (p.Thr310fs) rs1599276830
NM_001127222.2(CACNA1A):c.936C>T (p.Phe312=)
NM_001127222.2(CACNA1A):c.937C>T (p.Gln313Ter)
NM_001127222.2(CACNA1A):c.938A>G (p.Gln313Arg)
NM_001127222.2(CACNA1A):c.949A>C (p.Met317Leu)
NM_001127222.2(CACNA1A):c.967C>G (p.Leu323Val)
NM_001127222.2(CACNA1A):c.969C>T (p.Leu323=) rs1210220449
NM_001127222.2(CACNA1A):c.970dup (p.Leu324fs)
NM_001127222.2(CACNA1A):c.978+12T>C rs755859875
NM_001127222.2(CACNA1A):c.978+12T>G
NM_001127222.2(CACNA1A):c.978+19G>A
NM_001127222.2(CACNA1A):c.979-13T>C
NM_001127222.2(CACNA1A):c.979-19C>G rs2145140905
NM_001127222.2(CACNA1A):c.979-5T>A rs2145140730
NM_001127222.2(CACNA1A):c.979-6C>G rs773529741
NM_001127222.2(CACNA1A):c.979-8C>T
NM_001127222.2(CACNA1A):c.979-9A>C
NM_001127222.2(CACNA1A):c.97G>T (p.Ala33Ser) rs749474997
NM_001127222.2(CACNA1A):c.981C>G (p.Ser327Arg)
NM_001127222.2(CACNA1A):c.985G>A (p.Asp329Asn) rs1353041373
NM_001127222.2(CACNA1A):c.985G>C (p.Asp329His) rs1353041373
NM_001127222.2(CACNA1A):c.990C>G (p.Ala330=) rs1555767932
NM_001127222.2(CACNA1A):c.998A>G (p.Asn333Ser)
NM_001134771.2(SLC12A5):c.116T>A (p.Val39Asp)
NM_001134771.2(SLC12A5):c.5G>A (p.Ser2Asn) rs868778058
NM_001199107.1(TBC1D24):c.969_970delGT rs398122941
NM_001199107.2(TBC1D24):c.-116+125A>C rs2141848023
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_001199107.2(TBC1D24):c.1115C>A (p.Ser372Tyr)
NM_001199107.2(TBC1D24):c.1142+272T>C rs2141874790
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) rs773916549
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.1652G>A (p.Trp551Ter) rs2065788445
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.2T>C (p.Met1Thr)
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys) rs763626059
NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter) rs397514714
NM_001199107.2(TBC1D24):c.469C>G (p.Arg157Gly)
NM_001199107.2(TBC1D24):c.571T>C (p.Cys191Arg)
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs) rs2141872119
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) rs397514713
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs) rs766769998
NM_001199107.2(TBC1D24):c.844C>T (p.Pro282Ser) rs865893281
NM_001330260.2(SCN8A):c.1045G>A (p.Gly349Ser) rs2138742433
NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His) rs1592390511
NM_001330260.2(SCN8A):c.1162A>G (p.Met388Val) rs2138748054
NM_001330260.2(SCN8A):c.1221G>C (p.Leu407Phe) rs879255698
NM_001330260.2(SCN8A):c.1228G>C (p.Val410Leu) rs879255699
NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu) rs879255699
NM_001330260.2(SCN8A):c.1238C>A (p.Ala413Asp)
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met) rs2138748384
NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser) rs1160066733
NM_001330260.2(SCN8A):c.1452C>T (p.Ser484=) rs1941787074
NM_001330260.2(SCN8A):c.1460G>C (p.Ser487Thr)
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.1850A>G (p.Tyr617Cys) rs1308021407
NM_001330260.2(SCN8A):c.197C>A (p.Pro66His) rs1940955829
NM_001330260.2(SCN8A):c.2105G>C (p.Ser702Thr) rs2138828935
NM_001330260.2(SCN8A):c.2248G>A (p.Val750Ile) rs1942594128
NM_001330260.2(SCN8A):c.2256C>A (p.Asp752Glu)
NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2371-32A>C rs303767
NM_001330260.2(SCN8A):c.2507A>T (p.Asp836Val)
NM_001330260.2(SCN8A):c.2518C>T (p.Leu840Phe) rs1942779292
NM_001330260.2(SCN8A):c.2534C>T (p.Ser845Phe) rs796053210
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser) rs879255700
NM_001330260.2(SCN8A):c.2545-7dup rs56879517
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_001330260.2(SCN8A):c.2617G>T (p.Gly873Cys) rs1942828530
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr) rs1057524820
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser) rs1057524820
NM_001330260.2(SCN8A):c.2621C>T (p.Ala874Val)
NM_001330260.2(SCN8A):c.2624T>A (p.Leu875Gln) rs879255701
NM_001330260.2(SCN8A):c.2633T>C (p.Leu878Pro) rs1942828881
NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu) rs1592149771
NM_001330260.2(SCN8A):c.2642_2643insACCA (p.Leu882fs)
NM_001330260.2(SCN8A):c.2668G>A (p.Ala890Thr) rs879255702
NM_001330260.2(SCN8A):c.2668G>C (p.Ala890Pro) rs879255702
NM_001330260.2(SCN8A):c.2674G>T (p.Val892Leu)
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_001330260.2(SCN8A):c.2702A>G (p.Tyr901Cys) rs1942829767
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs) rs2138862858
NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter) rs2138863024
NM_001330260.2(SCN8A):c.2857T>C (p.Cys953Arg)
NM_001330260.2(SCN8A):c.2879T>A (p.Val960Asp) rs879255703
NM_001330260.2(SCN8A):c.2901+1G>C rs1942832440
NM_001330260.2(SCN8A):c.2901+2T>C rs2138863154
NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly) rs1057519540
NM_001330260.2(SCN8A):c.2934C>A (p.Ser978Arg)
NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)
NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys) rs876657399
NM_001330260.2(SCN8A):c.2965G>T (p.Asp989Tyr) rs1942878547
NM_001330260.2(SCN8A):c.297A>C (p.Arg99Ser) rs1565885985
NM_001330260.2(SCN8A):c.2983A>G (p.Asn995Asp) rs1565917769
NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys) rs1942879102
NM_001330260.2(SCN8A):c.3103G>A (p.Asp1035Asn)
NM_001330260.2(SCN8A):c.3130T>C (p.Cys1044Arg) rs1942882733
NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala) rs2138868637
NM_001330260.2(SCN8A):c.3154G>A (p.Asp1052Asn) rs1942883632
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val) rs2138868846
NM_001330260.2(SCN8A):c.3295G>A (p.Ala1099Thr) rs1592151654
NM_001330260.2(SCN8A):c.3307T>A (p.Ser1103Thr)
NM_001330260.2(SCN8A):c.3312_3372+4dup
NM_001330260.2(SCN8A):c.3327C>G (p.Asn1109Lys)
NM_001330260.2(SCN8A):c.3336T>A (p.Asp1112Glu) rs1942887434
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln) rs1555226186
NM_001330260.2(SCN8A):c.3536G>A (p.Gly1179Glu)
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_001330260.2(SCN8A):c.3577C>T (p.Leu1193Phe) rs2138871696
NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met) rs1942911383
NM_001330260.2(SCN8A):c.368G>A (p.Arg123Lys)
NM_001330260.2(SCN8A):c.3820-1G>T rs1373881732
NM_001330260.2(SCN8A):c.3942+248C>G
NM_001330260.2(SCN8A):c.3942+2_3942+5dup rs764867016
NM_001330260.2(SCN8A):c.3943G>A (p.Val1315Met) rs1555228303
NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser) rs1592162430
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.3967G>T (p.Ala1323Ser) rs794727361
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_001330260.2(SCN8A):c.3991C>G (p.Leu1331Val) rs397514738
NM_001330260.2(SCN8A):c.3995T>C (p.Leu1332Pro) rs2138904112
NM_001330260.2(SCN8A):c.4007T>C (p.Ile1336Thr) rs1938093232
NM_001330260.2(SCN8A):c.4033G>T (p.Gly1345Ter) rs1555228329
NM_001330260.2(SCN8A):c.4064del (p.Tyr1355fs) rs2138904272
NM_001330260.2(SCN8A):c.4078A>T (p.Thr1360Ser) rs796053215
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs) rs1555228380
NM_001330260.2(SCN8A):c.4196T>C (p.Val1399Ala) rs2138904540
NM_001330260.2(SCN8A):c.4219C>T (p.Leu1407Phe) rs2138904598
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_001330260.2(SCN8A):c.4264G>A (p.Ala1422Thr) rs2138908345
NM_001330260.2(SCN8A):c.4282-10C>G rs369145855
NM_001330260.2(SCN8A):c.4328A>G (p.Tyr1443Cys) rs2138909536
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4394A>T (p.Asp1465Val) rs1135401806
NM_001330260.2(SCN8A):c.4397A>C (p.Asn1466Thr) rs587777723
NM_001330260.2(SCN8A):c.4398C>A (p.Asn1466Lys) rs587777722
NM_001330260.2(SCN8A):c.4403A>G (p.Asn1468Ser) rs1057518667
NM_001330260.2(SCN8A):c.4408C>A (p.Gln1470Lys)
NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro) rs1555228771
NM_001330260.2(SCN8A):c.4409A>G (p.Gln1470Arg) rs1555228771
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val) rs796053217
NM_001330260.2(SCN8A):c.4436T>C (p.Ile1479Thr) rs1938214529
NM_001330260.2(SCN8A):c.4442T>A (p.Met1481Lys) rs796053219
NM_001330260.2(SCN8A):c.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla) rs1938214882
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_001330260.2(SCN8A):c.4475T>C (p.Met1492Thr)
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu) rs1555228931
NM_001330260.2(SCN8A):c.4587G>T (p.Met1529Ile)
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe) rs1555229496
NM_001330260.2(SCN8A):c.4674C>A (p.Asn1558Lys)
NM_001330260.2(SCN8A):c.4774G>A (p.Val1592Ile) rs587780454
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_001330260.2(SCN8A):c.4774G>T (p.Val1592Leu)
NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys) rs879255705
NM_001330260.2(SCN8A):c.4789A>G (p.Ile1597Val)
NM_001330260.2(SCN8A):c.4813A>G (p.Ile1605Val) rs879255706
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu) rs587777721
NM_001330260.2(SCN8A):c.4862T>G (p.Leu1621Trp) rs879255707
NM_001330260.2(SCN8A):c.4871T>G (p.Ile1624Ser)
NM_001330260.2(SCN8A):c.4873G>A (p.Gly1625Arg) rs879255708
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.4883T>C (p.Leu1628Ser) rs1555230928
NM_001330260.2(SCN8A):c.4885C>T (p.Arg1629Cys) rs1592174265
NM_001330260.2(SCN8A):c.4900G>A (p.Ala1634Thr) rs996870199
NM_001330260.2(SCN8A):c.4913G>A (p.Arg1638His) rs1064794873
NM_001330260.2(SCN8A):c.4924T>C (p.Phe1642Leu) rs1938703650
NM_001330260.2(SCN8A):c.4944G>C (p.Leu1648Phe) rs773587801
NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr) rs879255709
NM_001330260.2(SCN8A):c.4949C>A (p.Ala1650Asp) rs796053224
NM_001330260.2(SCN8A):c.4963G>A (p.Gly1655Ser)
NM_001330260.2(SCN8A):c.4966C>T (p.Leu1656Phe) rs1938704933
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn) rs1023188648
NM_001330260.2(SCN8A):c.5087T>G (p.Ile1696Ser)
NM_001330260.2(SCN8A):c.5181C>A (p.His1727Gln) rs1057519190
NM_001330260.2(SCN8A):c.5276A>G (p.Asn1759Ser) rs869312690
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr) rs1555231012
NM_001330260.2(SCN8A):c.5282A>G (p.Tyr1761Cys)
NM_001330260.2(SCN8A):c.5297T>G (p.Leu1766Arg) rs1938713472
NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp) rs202151337
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
NM_001330260.2(SCN8A):c.5333A>G (p.Asp1778Gly) rs1938714598
NM_001330260.2(SCN8A):c.5401C>G (p.Gln1801Glu) rs879255710
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5594T>C (p.Leu1865Pro)
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr) rs1064794727
NM_001330260.2(SCN8A):c.5610A>T (p.Glu1870Asp) rs879255711
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln) rs796053229
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)
NM_001330260.2(SCN8A):c.5793C>G (p.His1931Gln) rs1938732126
NM_001330260.2(SCN8A):c.632T>G (p.Val211Gly) rs1592380834
NM_001330260.2(SCN8A):c.677G>C (p.Arg226Pro)
NM_001330260.2(SCN8A):c.718A>T (p.Ile240Phe) rs1064793923
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr) rs1592387849
NM_001330260.2(SCN8A):c.737A>G (p.Gln246Arg)
NM_001330260.2(SCN8A):c.761T>G (p.Val254Gly) rs2138735599
NM_001330260.2(SCN8A):c.772A>G (p.Thr258Ala)
NM_001330260.2(SCN8A):c.773C>T (p.Thr258Ile) rs1555218630
NM_001330260.2(SCN8A):c.778T>G (p.Phe260Val)
NM_001330260.2(SCN8A):c.779T>C (p.Phe260Ser) rs879255697
NM_001330260.2(SCN8A):c.844_845del (p.Val282fs)
NM_001330260.2(SCN8A):c.970T>A (p.Cys324Ser)
NM_001330260.2(SCN8A):c.971G>A (p.Cys324Tyr) rs2138739035
NM_001605.3(AARS1):c.-21-11dup rs756492963
NM_001605.3(AARS1):c.141C>A (p.Asn47Lys)
NM_001605.3(AARS1):c.1574G>A (p.Cys525Tyr) rs2152156655
NM_001605.3(AARS1):c.161T>C (p.Leu54Pro) rs2152167069
NM_001605.3(AARS1):c.1741G>A (p.Gly581Ser) rs762734676
NM_001605.3(AARS1):c.1786C>T (p.Pro596Ser) rs780249378
NM_001605.3(AARS1):c.1897del (p.Arg633fs) rs2152154412
NM_001605.3(AARS1):c.1980dup (p.Glu661Ter)
NM_001605.3(AARS1):c.2067dup (p.Tyr690fs) rs2152153611
NM_001605.3(AARS1):c.2248C>T (p.Arg750Trp) rs751300562
NM_001605.3(AARS1):c.232G>T (p.Ala78Ser)
NM_001605.3(AARS1):c.241A>G (p.Lys81Glu) rs2152167014
NM_001605.3(AARS1):c.2873T>C (p.Phe958Ser) rs1555539157
NM_001605.3(AARS1):c.287C>T (p.Thr96Ile)
NM_001605.3(AARS1):c.296A>G (p.Glu99Gly) rs2152166979
NM_001605.3(AARS1):c.562_563inv (p.Ser188Leu)
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys) rs1300927114
NM_001605.3(AARS1):c.778A>G (p.Thr260Ala) rs1165867512
NM_001605.3(AARS1):c.86C>T (p.Ser29Phe) rs2152170413
NM_001605.3(AARS1):c.887G>A (p.Arg296Gln)
NM_001605.3(AARS1):c.989G>A (p.Arg330Gln)
NM_001958.5(EEF1A2):c.1001C>T (p.Pro334Leu) rs574384755
NM_001958.5(EEF1A2):c.1002G>A (p.Pro334=) rs759770756
NM_001958.5(EEF1A2):c.1020C>T (p.Phe340=) rs2145939960
NM_001958.5(EEF1A2):c.1023C>T (p.Thr341=)
NM_001958.5(EEF1A2):c.1029+11_1029+12delinsAT rs2145939944
NM_001958.5(EEF1A2):c.1029+3G>A rs111392970
NM_001958.5(EEF1A2):c.1029+3G>C rs111392970
NM_001958.5(EEF1A2):c.1029+3G>T rs111392970
NM_001958.5(EEF1A2):c.1030-10C>G
NM_001958.5(EEF1A2):c.1030-11T>G
NM_001958.5(EEF1A2):c.1030-20G>A
NM_001958.5(EEF1A2):c.1050G>A (p.Pro350=) rs1222452639
NM_001958.5(EEF1A2):c.1059T>C (p.Ile353=)
NM_001958.5(EEF1A2):c.1068C>T (p.Gly356=)
NM_001958.5(EEF1A2):c.1077G>A (p.Pro359=)
NM_001958.5(EEF1A2):c.1077G>C (p.Pro359=)
NM_001958.5(EEF1A2):c.1119G>A (p.Ala373=)
NM_001958.5(EEF1A2):c.1129_1131del (p.Glu377del) rs2082366421
NM_001958.5(EEF1A2):c.1137T>A (p.Ile379=) rs1204115008
NM_001958.5(EEF1A2):c.1138G>C (p.Asp380His) rs2082366378
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp) rs1568994522
NM_001958.5(EEF1A2):c.1145G>C (p.Arg382Pro)
NM_001958.5(EEF1A2):c.114C>G (p.Thr38=)
NM_001958.5(EEF1A2):c.1150G>C (p.Gly384Arg) rs1555883384
NM_001958.5(EEF1A2):c.1159C>T (p.Leu387=) rs2145938785
NM_001958.5(EEF1A2):c.115A>T (p.Ile39Phe)
NM_001958.5(EEF1A2):c.1161G>A (p.Leu387=)
NM_001958.5(EEF1A2):c.1164G>A (p.Glu388=)
NM_001958.5(EEF1A2):c.1165G>A (p.Asp389Asn) rs1568994517
NM_001958.5(EEF1A2):c.1169A>G (p.Asn390Ser) rs2145938775
NM_001958.5(EEF1A2):c.1180C>G (p.Leu394Val)
NM_001958.5(EEF1A2):c.1182G>A (p.Leu394=) rs199643016
NM_001958.5(EEF1A2):c.1190G>A (p.Gly397Glu) rs2145938753
NM_001958.5(EEF1A2):c.1196C>A (p.Ala399Glu) rs2082366097
NM_001958.5(EEF1A2):c.1197G>A (p.Ala399=) rs1243124575
NM_001958.5(EEF1A2):c.1200C>T (p.Ala400=)
NM_001958.5(EEF1A2):c.1203C>A (p.Ile401=) rs758653621
NM_001958.5(EEF1A2):c.1215G>C (p.Val405=) rs1600902095
NM_001958.5(EEF1A2):c.1259C>G (p.Pro420Arg)
NM_001958.5(EEF1A2):c.1263C>A (p.Leu421=)
NM_001958.5(EEF1A2):c.1264+13G>C rs2145938697
NM_001958.5(EEF1A2):c.1264+17C>G
NM_001958.5(EEF1A2):c.1264+17C>T
NM_001958.5(EEF1A2):c.1264+17del
NM_001958.5(EEF1A2):c.1264+6C>T rs2082365851
NM_001958.5(EEF1A2):c.1264+7C>A rs1043290712
NM_001958.5(EEF1A2):c.1264+7C>G rs1043290712
NM_001958.5(EEF1A2):c.1265-10C>G
NM_001958.5(EEF1A2):c.1265-10del rs1170731512
NM_001958.5(EEF1A2):c.1265-11C>T rs762339090
NM_001958.5(EEF1A2):c.1265-12C>A
NM_001958.5(EEF1A2):c.1265-15C>A rs200634874
NM_001958.5(EEF1A2):c.1265-15dup rs1170731512
NM_001958.5(EEF1A2):c.1265-16GCCCCCC[3] rs760400114
NM_001958.5(EEF1A2):c.1265-23_1265-6dup
NM_001958.5(EEF1A2):c.1265-3del
NM_001958.5(EEF1A2):c.1265-6C>T
NM_001958.5(EEF1A2):c.1265-7C>T
NM_001958.5(EEF1A2):c.1265-8C>G rs1430868348
NM_001958.5(EEF1A2):c.1265-8C>T
NM_001958.5(EEF1A2):c.1267C>T (p.Arg423Cys) rs886039346
NM_001958.5(EEF1A2):c.1268_1269delinsAA (p.Arg423Gln)
NM_001958.5(EEF1A2):c.1272C>T (p.Phe424=)
NM_001958.5(EEF1A2):c.1275C>A (p.Ala425=) rs1290491559
NM_001958.5(EEF1A2):c.1275C>T (p.Ala425=)
NM_001958.5(EEF1A2):c.1285A>G (p.Met429Val)
NM_001958.5(EEF1A2):c.1286T>G (p.Met429Arg)
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met) rs2082362479
NM_001958.5(EEF1A2):c.1296G>C (p.Thr432=) rs200259257
NM_001958.5(EEF1A2):c.1296G>T (p.Thr432=) rs200259257
NM_001958.5(EEF1A2):c.1302C>T (p.Ala434=) rs1057522311
NM_001958.5(EEF1A2):c.1304T>C (p.Val435Ala) rs2145938177
NM_001958.5(EEF1A2):c.1309G>A (p.Val437Ile) rs1057521655
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe) rs1057521655
NM_001958.5(EEF1A2):c.1311C>G (p.Val437=)
NM_001958.5(EEF1A2):c.1311C>T (p.Val437=) rs2145938170
NM_001958.5(EEF1A2):c.1316A>G (p.Lys439Arg) rs1286655873
NM_001958.5(EEF1A2):c.1320C>T (p.Asn440=) rs367803280
NM_001958.5(EEF1A2):c.1328A>G (p.Lys443Arg)
NM_001958.5(EEF1A2):c.1332G>A (p.Lys444=)
NM_001958.5(EEF1A2):c.1335C>A (p.Ser445Arg) rs372257864
NM_001958.5(EEF1A2):c.1344C>G (p.Ala448=)
NM_001958.5(EEF1A2):c.1344C>T (p.Ala448=)
NM_001958.5(EEF1A2):c.1345G>A (p.Gly449Ser) rs2082362096
NM_001958.5(EEF1A2):c.1351G>A (p.Val451Ile)
NM_001958.5(EEF1A2):c.1356C>A (p.Thr452=)
NM_001958.5(EEF1A2):c.1356C>G (p.Thr452=)
NM_001958.5(EEF1A2):c.1365G>A (p.Ala455=) rs1600901507
NM_001958.5(EEF1A2):c.1366CAGAAGGCG[1] (p.456QKA[1]) rs879255373
NM_001958.5(EEF1A2):c.1369A>G (p.Lys457Glu)
NM_001958.5(EEF1A2):c.1374G>A (p.Ala458=) rs2145938105
NM_001958.5(EEF1A2):c.137C>T (p.Ala46Val) rs1555883973
NM_001958.5(EEF1A2):c.1383G>A (p.Ala461=) rs781155823
NM_001958.5(EEF1A2):c.144+12A>G
NM_001958.5(EEF1A2):c.144+6C>T rs1179785181
NM_001958.5(EEF1A2):c.144+8C>A rs2145946769
NM_001958.5(EEF1A2):c.145-18G>C
NM_001958.5(EEF1A2):c.145-19_145-7dup
NM_001958.5(EEF1A2):c.145-20G>A rs756963600
NM_001958.5(EEF1A2):c.145-20G>T rs756963600
NM_001958.5(EEF1A2):c.145-3C>T
NM_001958.5(EEF1A2):c.145-7G>A rs536472004
NM_001958.5(EEF1A2):c.145-7_145-6del rs781781112
NM_001958.5(EEF1A2):c.145-8C>G rs554786640
NM_001958.5(EEF1A2):c.150G>C (p.Gly50=) rs751627255
NM_001958.5(EEF1A2):c.150G>T (p.Gly50=) rs751627255
NM_001958.5(EEF1A2):c.169G>A (p.Ala57Thr)
NM_001958.5(EEF1A2):c.180G>T (p.Leu60=) rs760484799
NM_001958.5(EEF1A2):c.194C>T (p.Ala65Val) rs1238718880
NM_001958.5(EEF1A2):c.195G>A (p.Ala65=)
NM_001958.5(EEF1A2):c.205C>T (p.Arg69Cys) rs1555883869
NM_001958.5(EEF1A2):c.206G>A (p.Arg69His)
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser) rs587777162
NM_001958.5(EEF1A2):c.214A>G (p.Thr72Ala)
NM_001958.5(EEF1A2):c.222C>T (p.Asp74=)
NM_001958.5(EEF1A2):c.228C>A (p.Ser76=) rs770506057
NM_001958.5(EEF1A2):c.231C>G (p.Leu77=) rs1600908507
NM_001958.5(EEF1A2):c.237G>T (p.Lys79Asn)
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) rs886041197
NM_001958.5(EEF1A2):c.271G>T (p.Asp91Tyr)
NM_001958.5(EEF1A2):c.273T>C (p.Asp91=) rs1555883864
NM_001958.5(EEF1A2):c.274G>A (p.Ala92Thr) rs2082414178
NM_001958.5(EEF1A2):c.288C>A (p.Arg96=)
NM_001958.5(EEF1A2):c.289G>A (p.Asp97Asn) rs2145945425
NM_001958.5(EEF1A2):c.28A>T (p.Ile10Phe) rs2145946874
NM_001958.5(EEF1A2):c.305T>C (p.Met102Thr) rs2082414008
NM_001958.5(EEF1A2):c.324+2T>G
NM_001958.5(EEF1A2):c.324+5G>A rs762973465
NM_001958.5(EEF1A2):c.324+5dup rs1555883860
NM_001958.5(EEF1A2):c.324+8G>A
NM_001958.5(EEF1A2):c.324+9G>A rs2145945388
NM_001958.5(EEF1A2):c.325-14C>A
NM_001958.5(EEF1A2):c.325-14C>T rs2082410940
NM_001958.5(EEF1A2):c.325-20C>A
NM_001958.5(EEF1A2):c.325-6G>A
NM_001958.5(EEF1A2):c.326C>T (p.Ala109Val)
NM_001958.5(EEF1A2):c.327G>A (p.Ala109=)
NM_001958.5(EEF1A2):c.332G>A (p.Cys111Tyr) rs2145944981
NM_001958.5(EEF1A2):c.333C>T (p.Cys111=)
NM_001958.5(EEF1A2):c.334G>A (p.Ala112Thr) rs2145944978
NM_001958.5(EEF1A2):c.344T>C (p.Ile115Thr)
NM_001958.5(EEF1A2):c.346G>A (p.Val116Met)
NM_001958.5(EEF1A2):c.346G>T (p.Val116Leu)
NM_001958.5(EEF1A2):c.353C>T (p.Ala118Val)
NM_001958.5(EEF1A2):c.356G>A (p.Gly119Asp) rs2145944958
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001958.5(EEF1A2):c.369C>A (p.Phe123Leu)
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001958.5(EEF1A2):c.384C>T (p.Ser128=)
NM_001958.5(EEF1A2):c.390T>C (p.Asn130=) rs764383059
NM_001958.5(EEF1A2):c.391G>A (p.Gly131Arg)
NM_001958.5(EEF1A2):c.398C>T (p.Thr133Met) rs1555883816
NM_001958.5(EEF1A2):c.400C>T (p.Arg134Trp) rs1448765509
NM_001958.5(EEF1A2):c.401G>A (p.Arg134Gln)
NM_001958.5(EEF1A2):c.403G>C (p.Glu135Gln) rs2145944903
NM_001958.5(EEF1A2):c.40G>A (p.Gly14Ser) rs750037735
NM_001958.5(EEF1A2):c.426G>T (p.Thr142=)
NM_001958.5(EEF1A2):c.43C>A (p.His15Asn)
NM_001958.5(EEF1A2):c.43C>T (p.His15Tyr)
NM_001958.5(EEF1A2):c.442C>A (p.Leu148Ile)
NM_001958.5(EEF1A2):c.444C>T (p.Leu148=)
NM_001958.5(EEF1A2):c.447C>A (p.Ile149=)
NM_001958.5(EEF1A2):c.448G>A (p.Val150Met)
NM_001958.5(EEF1A2):c.452G>A (p.Gly151Asp) rs2082410204
NM_001958.5(EEF1A2):c.453C>T (p.Gly151=) rs764827474
NM_001958.5(EEF1A2):c.468C>T (p.Asp156=)
NM_001958.5(EEF1A2):c.46G>C (p.Val16Leu) rs2082424831
NM_001958.5(EEF1A2):c.471C>G (p.Ser157=) rs1600907789
NM_001958.5(EEF1A2):c.475G>T (p.Glu159Ter)
NM_001958.5(EEF1A2):c.480_481delinsAA (p.Ala161Thr) rs1600907762
NM_001958.5(EEF1A2):c.487A>G (p.Ser163Gly) rs1000703611
NM_001958.5(EEF1A2):c.489C>G (p.Ser163Arg)
NM_001958.5(EEF1A2):c.490G>A (p.Glu164Lys) rs2145944822
NM_001958.5(EEF1A2):c.496C>T (p.Arg166Cys)
NM_001958.5(EEF1A2):c.497G>A (p.Arg166His)
NM_001958.5(EEF1A2):c.49G>C (p.Asp17His) rs2082424804
NM_001958.5(EEF1A2):c.505G>A (p.Glu169Lys) rs2082409766
NM_001958.5(EEF1A2):c.506A>G (p.Glu169Gly) rs2082409745
NM_001958.5(EEF1A2):c.50_51delinsGA (p.Asp17Gly) rs2145946848
NM_001958.5(EEF1A2):c.511G>A (p.Val171Ile)
NM_001958.5(EEF1A2):c.513C>T (p.Val171=) rs201149992
NM_001958.5(EEF1A2):c.515A>G (p.Lys172Arg)
NM_001958.5(EEF1A2):c.522C>T (p.Val174=)
NM_001958.5(EEF1A2):c.524_525delinsAG (p.Ser175Lys)
NM_001958.5(EEF1A2):c.525C>T (p.Ser175=)
NM_001958.5(EEF1A2):c.532A>G (p.Ile178Val)
NM_001958.5(EEF1A2):c.532A>T (p.Ile178Phe) rs765056369
NM_001958.5(EEF1A2):c.536A>G (p.Lys179Arg) rs2082409506
NM_001958.5(EEF1A2):c.543C>G (p.Ile181Met) rs1057115359
NM_001958.5(EEF1A2):c.549C>T (p.Tyr183=) rs2145944762
NM_001958.5(EEF1A2):c.54C>G (p.Ser18=) rs200759764
NM_001958.5(EEF1A2):c.54C>T (p.Ser18=) rs200759764
NM_001958.5(EEF1A2):c.555G>A (p.Pro185=)
NM_001958.5(EEF1A2):c.562G>A (p.Val188Met)
NM_001958.5(EEF1A2):c.571G>A (p.Val191Met) rs1600907642
NM_001958.5(EEF1A2):c.577A>G (p.Ile193Val)
NM_001958.5(EEF1A2):c.583G>A (p.Gly195Ser)
NM_001958.5(EEF1A2):c.620A>G (p.Asn207Ser) rs1184871645
NM_001958.5(EEF1A2):c.621+10G>T
NM_001958.5(EEF1A2):c.621+14_621+18dup
NM_001958.5(EEF1A2):c.621+16G>A
NM_001958.5(EEF1A2):c.621+7G>T rs1376340355
NM_001958.5(EEF1A2):c.622-17T>G
NM_001958.5(EEF1A2):c.622-3C>T
NM_001958.5(EEF1A2):c.627G>A (p.Pro209=)
NM_001958.5(EEF1A2):c.62C>T (p.Ser21Phe)
NM_001958.5(EEF1A2):c.639C>T (p.Gly213=)
NM_001958.5(EEF1A2):c.676G>A (p.Val226Met)
NM_001958.5(EEF1A2):c.682C>T (p.Leu228=) rs1555883739
NM_001958.5(EEF1A2):c.685C>T (p.Leu229=)
NM_001958.5(EEF1A2):c.687G>C (p.Leu229=)
NM_001958.5(EEF1A2):c.6C>G (p.Gly2=)
NM_001958.5(EEF1A2):c.706C>T (p.Leu236=)
NM_001958.5(EEF1A2):c.711C>T (p.Pro237=)
NM_001958.5(EEF1A2):c.712C>A (p.Pro238Thr) rs2145943601
NM_001958.5(EEF1A2):c.714C>A (p.Pro238=) rs557317848
NM_001958.5(EEF1A2):c.714C>G (p.Pro238=) rs557317848
NM_001958.5(EEF1A2):c.714C>T (p.Pro238=) rs557317848
NM_001958.5(EEF1A2):c.716C>G (p.Thr239Arg) rs993963334
NM_001958.5(EEF1A2):c.718C>T (p.Arg240Cys)
NM_001958.5(EEF1A2):c.719G>A (p.Arg240His) rs2082399018
NM_001958.5(EEF1A2):c.71C>T (p.Thr24Met) rs1064795618
NM_001958.5(EEF1A2):c.727G>A (p.Asp243Asn)
NM_001958.5(EEF1A2):c.729C>T (p.Asp243=)
NM_001958.5(EEF1A2):c.735C>G (p.Pro245=) rs2082398925
NM_001958.5(EEF1A2):c.737T>C (p.Leu246Pro)
NM_001958.5(EEF1A2):c.754G>C (p.Asp252His) rs786205865
NM_001958.5(EEF1A2):c.756C>T (p.Asp252=)
NM_001958.5(EEF1A2):c.757G>A (p.Val253Met)
NM_001958.5(EEF1A2):c.759G>A (p.Val253=)
NM_001958.5(EEF1A2):c.764A>G (p.Lys255Arg) rs2082398761
NM_001958.5(EEF1A2):c.772+10G>A rs2145943548
NM_001958.5(EEF1A2):c.772+11G>A
NM_001958.5(EEF1A2):c.772+14C>T
NM_001958.5(EEF1A2):c.772+16G>A
NM_001958.5(EEF1A2):c.772+19C>T
NM_001958.5(EEF1A2):c.772+5G>A
NM_001958.5(EEF1A2):c.772+7A>G
NM_001958.5(EEF1A2):c.772G>A (p.Gly258Ser) rs2082398711
NM_001958.5(EEF1A2):c.773-12del
NM_001958.5(EEF1A2):c.779G>T (p.Gly260Val) rs2082375053
NM_001958.5(EEF1A2):c.782C>T (p.Thr261Met) rs1555883506
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_001958.5(EEF1A2):c.810C>T (p.Gly270=)
NM_001958.5(EEF1A2):c.819G>A (p.Arg273=)
NM_001958.5(EEF1A2):c.821C>T (p.Pro274Leu)
NM_001958.5(EEF1A2):c.822G>A (p.Pro274=)
NM_001958.5(EEF1A2):c.824G>C (p.Gly275Ala)
NM_001958.5(EEF1A2):c.827T>C (p.Met276Thr) rs2145940159
NM_001958.5(EEF1A2):c.832G>C (p.Val278Leu)
NM_001958.5(EEF1A2):c.858C>T (p.Thr286=) rs1238751886
NM_001958.5(EEF1A2):c.863A>G (p.Glu288Gly) rs1555883501
NM_001958.5(EEF1A2):c.870G>A (p.Lys290=)
NM_001958.5(EEF1A2):c.873A>C (p.Ser291=)
NM_001958.5(EEF1A2):c.87C>T (p.Tyr29=)
NM_001958.5(EEF1A2):c.889G>A (p.Glu297Lys) rs1395381555
NM_001958.5(EEF1A2):c.909G>A (p.Leu303=)
NM_001958.5(EEF1A2):c.925G>A (p.Gly309Ser) rs921196267
NM_001958.5(EEF1A2):c.930C>T (p.Phe310=) rs2145940056
NM_001958.5(EEF1A2):c.933T>C (p.Asn311=) rs2145940054
NM_001958.5(EEF1A2):c.947C>T (p.Ser316Leu) rs2082374152
NM_001958.5(EEF1A2):c.94G>A (p.Gly32Arg)
NM_001958.5(EEF1A2):c.957C>T (p.Asp319=) rs1054278909
NM_001958.5(EEF1A2):c.958A>G (p.Ile320Val)
NM_001958.5(EEF1A2):c.961C>T (p.Arg321Trp) rs1415254392
NM_001958.5(EEF1A2):c.966G>C (p.Arg322=)
NM_001958.5(EEF1A2):c.971A>G (p.Asn324Ser) rs1600903430
NM_001958.5(EEF1A2):c.972C>T (p.Asn324=)
NM_001958.5(EEF1A2):c.984C>T (p.Asp328=) rs2145940003
NM_001958.5(EEF1A2):c.998C>G (p.Pro333Arg)
NM_003705.4(SLC25A12):c.-67_-66GC[7] rs759200327
NM_003705.5(SLC25A12):c.101T>A (p.Met34Lys)
NM_003705.5(SLC25A12):c.1058G>A (p.Arg353Gln) rs886037851
NM_003705.5(SLC25A12):c.1295C>T (p.Ala432Val)
NM_003705.5(SLC25A12):c.13G>A (p.Val5Met) rs201557997
NM_003705.5(SLC25A12):c.1447-2_1447-1del
NM_003705.5(SLC25A12):c.1469G>A (p.Arg490Gln) rs2105837625
NM_003705.5(SLC25A12):c.1618G>A (p.Asp540Asn) rs1553469156
NM_003705.5(SLC25A12):c.225del (p.Glu76fs) rs1685036155
NM_003705.5(SLC25A12):c.325G>A (p.Glu109Lys) rs1685033697
NM_003705.5(SLC25A12):c.326-2A>C rs1573977142
NM_003705.5(SLC25A12):c.410T>C (p.Phe137Ser) rs2105895501
NM_003705.5(SLC25A12):c.693del (p.Val232fs)
NM_004113.6(FGF12):c.118G>C (p.Asp40His)
NM_004113.6(FGF12):c.125-3181A>G rs1577367655
NM_004113.6(FGF12):c.14-47562G>A
NM_004113.6(FGF12):c.14-47649A>G rs2108776132
NM_004113.6(FGF12):c.142C>T (p.Pro48Ser)
NM_004113.6(FGF12):c.145G>C (p.Val49Leu) rs199832838
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004113.6(FGF12):c.229-8dup rs34265167
NM_004113.6(FGF12):c.341G>A (p.Gly114Glu)
NM_004113.6(FGF12):c.457G>A (p.Glu153Lys)
NM_004113.6(FGF12):c.491G>A (p.Ser164Asn) rs2108576388
NM_004113.6(FGF12):c.83A>T (p.Asp28Val)
NM_004171.4(SLC1A2):c.1003A>G (p.Ile335Val)
NM_004171.4(SLC1A2):c.1046C>T (p.Ala349Val) rs1851035772
NM_004171.4(SLC1A2):c.1079G>C (p.Gly360Ala)
NM_004171.4(SLC1A2):c.1154_1155del (p.Val385fs)
NM_004171.4(SLC1A2):c.1295C>A (p.Ala432Asp)
NM_004171.4(SLC1A2):c.139C>G (p.Leu47Val) rs1851917611
NM_004171.4(SLC1A2):c.1493A>G (p.Lys498Arg)
NM_004171.4(SLC1A2):c.1601C>A (p.Ser534Tyr)
NM_004171.4(SLC1A2):c.1625A>G (p.His542Arg)
NM_004171.4(SLC1A2):c.1639G>A (p.Val547Ile)
NM_004171.4(SLC1A2):c.1684G>A (p.Asp562Asn)
NM_004171.4(SLC1A2):c.1715G>A (p.Arg572His)
NM_004171.4(SLC1A2):c.193C>T (p.Arg65Cys) rs1326870463
NM_004171.4(SLC1A2):c.236C>A (p.Ala79Asp)
NM_004171.4(SLC1A2):c.244G>A (p.Gly82Arg) rs886037942
NM_004171.4(SLC1A2):c.244G>C (p.Gly82Arg) rs886037942
NM_004171.4(SLC1A2):c.254T>C (p.Leu85Pro) rs886037943
NM_004171.4(SLC1A2):c.257T>A (p.Met86Lys)
NM_004171.4(SLC1A2):c.260G>A (p.Arg87Lys)
NM_004171.4(SLC1A2):c.304A>G (p.Ile102Val) rs2134887083
NM_004171.4(SLC1A2):c.389T>C (p.Ile130Thr) rs1851734643
NM_004171.4(SLC1A2):c.456G>C (p.Gln152His)
NM_004171.4(SLC1A2):c.469A>G (p.Lys157Glu) rs1851730752
NM_004171.4(SLC1A2):c.555T>A (p.Phe185Leu) rs751782700
NM_004171.4(SLC1A2):c.607G>A (p.Glu203Lys) rs1400780690
NM_004171.4(SLC1A2):c.609G>C (p.Glu203Asp) rs1851499526
NM_004171.4(SLC1A2):c.626G>A (p.Ser209Asn)
NM_004171.4(SLC1A2):c.689T>C (p.Ile230Thr)
NM_004171.4(SLC1A2):c.746del (p.Phe249fs)
NM_004171.4(SLC1A2):c.758G>T (p.Gly253Val)
NM_004171.4(SLC1A2):c.777G>A (p.Met259Ile)
NM_004171.4(SLC1A2):c.827T>G (p.Ile276Ser)
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_004171.4(SLC1A2):c.872G>T (p.Gly291Val)
NM_004408.4(DNM1):c.1012G>A (p.Val338Ile)
NM_004408.4(DNM1):c.1020T>C (p.Phe340=) rs2131173713
NM_004408.4(DNM1):c.1021G>A (p.Glu341Lys)
NM_004408.4(DNM1):c.1028G>A (p.Arg343His)
NM_004408.4(DNM1):c.1035G>A (p.Glu345=)
NM_004408.4(DNM1):c.1036G>A (p.Gly346Ser) rs1554774575
NM_004408.4(DNM1):c.1047T>G (p.Asp349Glu) rs1247861339
NM_004408.4(DNM1):c.1054G>A (p.Asp352Asn) rs148695604
NM_004408.4(DNM1):c.1061A>G (p.Tyr354Cys)
NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg) rs1554774587
NM_004408.4(DNM1):c.1076G>A (p.Gly359Glu)
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) rs587777862
NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly) rs1835085971
NM_004408.4(DNM1):c.1089C>T (p.Asn363=) rs1377650055
NM_004408.4(DNM1):c.108G>T (p.Val36=)
NM_004408.4(DNM1):c.1090_1091insTTCCAC (p.Asn363_Arg364insLeuPro) rs1564332930
NM_004408.4(DNM1):c.1100A>C (p.His367Pro)
NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys) rs1835087040
NM_004408.4(DNM1):c.1104G>A (p.Glu368=)
NM_004408.4(DNM1):c.1116C>G (p.Phe372Leu) rs367584321
NM_004408.4(DNM1):c.1123G>A (p.Val375Ile) rs2131174031
NM_004408.4(DNM1):c.1125C>A (p.Val375=) rs760118978
NM_004408.4(DNM1):c.1128+12A>C
NM_004408.4(DNM1):c.1128+4G>A rs768339660
NM_004408.4(DNM1):c.1129-18C>A
NM_004408.4(DNM1):c.1129-9del rs2131174977
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser) rs1131692025
NM_004408.4(DNM1):c.1134G>A (p.Glu378=) rs1365194190
NM_004408.4(DNM1):c.1138G>T (p.Asp380Tyr) rs1835101754
NM_004408.4(DNM1):c.1140T>C (p.Asp380=)
NM_004408.4(DNM1):c.114C>A (p.Gly38=)
NM_004408.4(DNM1):c.114C>T (p.Gly38=) rs1326366504
NM_004408.4(DNM1):c.1153C>T (p.Arg385Ter) rs1835102166
NM_004408.4(DNM1):c.1154G>A (p.Arg385Gln) rs1428107171
NM_004408.4(DNM1):c.1180A>C (p.Asn394His) rs1835103161
NM_004408.4(DNM1):c.1182T>C (p.Asn394=) rs1171703565
NM_004408.4(DNM1):c.1195A>T (p.Arg399Ter) rs2131175203
NM_004408.4(DNM1):c.1196+14C>A
NM_004408.4(DNM1):c.1196+16T>C
NM_004408.4(DNM1):c.1196+17G>A
NM_004408.4(DNM1):c.1196+5G>A rs1835103921
NM_004408.4(DNM1):c.1196+7A>C rs955349107
NM_004408.4(DNM1):c.1196+7A>T
NM_004408.4(DNM1):c.1196+8T>C rs1588370851
NM_004408.4(DNM1):c.1197-10G>A
NM_004408.4(DNM1):c.1197-14C>T
NM_004408.4(DNM1):c.1197-16C>G
NM_004408.4(DNM1):c.1197-7C>A rs41306488
NM_004408.4(DNM1):c.119A>C (p.Gln40Pro) rs2131061484
NM_004408.4(DNM1):c.11G>A (p.Arg4His)
NM_004408.4(DNM1):c.1206G>A (p.Leu402=) rs754423616
NM_004408.4(DNM1):c.1207T>C (p.Phe403Leu)
NM_004408.4(DNM1):c.1226T>C (p.Phe409Ser) rs2131181546
NM_004408.4(DNM1):c.1246C>G (p.Gln416Glu) rs866836375
NM_004408.4(DNM1):c.1257G>A (p.Lys419=) rs2131181635
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004408.4(DNM1):c.1283T>G (p.Val428Gly)
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp) rs1833622746
NM_004408.4(DNM1):c.1299G>A (p.Ser433=)
NM_004408.4(DNM1):c.1303C>T (p.Leu435=)
NM_004408.4(DNM1):c.1329C>G (p.Thr443=) rs2131181922
NM_004408.4(DNM1):c.1335+13C>T
NM_004408.4(DNM1):c.1335+14C>T
NM_004408.4(DNM1):c.1335+15C>G
NM_004408.4(DNM1):c.1335+15C>T rs779719063
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004408.4(DNM1):c.1335+16G>T rs768442528
NM_004408.4(DNM1):c.1335+1735A>G
NM_004408.4(DNM1):c.1336-18C>T
NM_004408.4(DNM1):c.1336-6C>T rs1400533057
NM_004408.4(DNM1):c.1336-7T>A rs550764968
NM_004408.4(DNM1):c.1336-7T>G rs550764968
NM_004408.4(DNM1):c.1343A>C (p.Gln448Pro)
NM_004408.4(DNM1):c.1344G>A (p.Gln448=) rs1352962318
NM_004408.4(DNM1):c.1345T>C (p.Tyr449His) rs1835857400
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn) rs1554767317
NM_004408.4(DNM1):c.1351C>T (p.Arg451Trp)
NM_004408.4(DNM1):c.1352G>A (p.Arg451Gln)
NM_004408.4(DNM1):c.1357C>T (p.Arg453Trp) rs368427334
NM_004408.4(DNM1):c.1358G>T (p.Arg453Leu) rs750296552
NM_004408.4(DNM1):c.1371G>T (p.Glu457Asp) rs1835858946
NM_004408.4(DNM1):c.1372C>T (p.Arg458Cys)
NM_004408.4(DNM1):c.1373G>A (p.Arg458His)
NM_004408.4(DNM1):c.1375A>G (p.Ile459Val) rs2131227049
NM_004408.4(DNM1):c.1377C>T (p.Ile459=) rs756256016
NM_004408.4(DNM1):c.1384A>G (p.Thr462Ala)
NM_004408.4(DNM1):c.138G>A (p.Ser46=) rs781131754
NM_004408.4(DNM1):c.1393C>T (p.Arg465Trp) rs772264918
NM_004408.4(DNM1):c.139G>A (p.Val47Met) rs869312702
NM_004408.4(DNM1):c.13G>A (p.Gly5Ser) rs759483040
NM_004408.4(DNM1):c.1401C>A (p.Arg467=)
NM_004408.4(DNM1):c.1404G>C (p.Glu468Asp)
NM_004408.4(DNM1):c.1416G>A (p.Lys472=) rs1835861637
NM_004408.4(DNM1):c.1422+13G>A
NM_004408.4(DNM1):c.1422+19G>A rs1440002003
NM_004408.4(DNM1):c.1422+19G>T
NM_004408.4(DNM1):c.1422+5del
NM_004408.4(DNM1):c.1422+6_1422+83dup
NM_004408.4(DNM1):c.1422+8C>T
NM_004408.4(DNM1):c.1423-16C>T
NM_004408.4(DNM1):c.1423-16del
NM_004408.4(DNM1):c.1423-17C>T
NM_004408.4(DNM1):c.1424T>C (p.Val475Ala)
NM_004408.4(DNM1):c.1427T>C (p.Met476Thr) rs2131251361
NM_004408.4(DNM1):c.1461C>T (p.Asn487=) rs1318922555
NM_004408.4(DNM1):c.1462A>G (p.Thr488Ala) rs2131251443
NM_004408.4(DNM1):c.1493+14del rs371426966
NM_004408.4(DNM1):c.1493+17G>A
NM_004408.4(DNM1):c.1493+20A>G
NM_004408.4(DNM1):c.1493+3G>C
NM_004408.4(DNM1):c.1493+5G>A rs752004261
NM_004408.4(DNM1):c.1493+7G>A
NM_004408.4(DNM1):c.1494-11C>T
NM_004408.4(DNM1):c.1494-5A>G rs1836247500
NM_004408.4(DNM1):c.1512C>T (p.Asn504=)
NM_004408.4(DNM1):c.1518G>T (p.Met506Ile)
NM_004408.4(DNM1):c.1523AGA[2] (p.Lys510del) rs763633863
NM_004408.4(DNM1):c.152T>C (p.Phe51Ser) rs2131061694
NM_004408.4(DNM1):c.1535C>T (p.Ser512Leu) rs867314420
NM_004408.4(DNM1):c.1545+18C>A
NM_004408.4(DNM1):c.1545G>A (p.Gln515=)
NM_004408.4(DNM1):c.1557+1G>C rs1230944082
NM_004408.4(DNM1):c.1557G>C (p.Leu519=)
NM_004408.4(DNM1):c.1558-13C>T rs2131262430
NM_004408.4(DNM1):c.1565G>C (p.Arg522Pro)
NM_004408.4(DNM1):c.1566C>T (p.Arg522=)
NM_004408.4(DNM1):c.1571G>T (p.Gly524Val)
NM_004408.4(DNM1):c.161+14G>A
NM_004408.4(DNM1):c.161+5_161+6delinsTT
NM_004408.4(DNM1):c.161+8C>T
NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu) rs1554781553
NM_004408.4(DNM1):c.162-8C>T rs1205557529
NM_004408.4(DNM1):c.162-9T>G rs920593927
NM_004408.4(DNM1):c.1626del (p.Trp542fs)
NM_004408.4(DNM1):c.1631T>C (p.Val544Ala)
NM_004408.4(DNM1):c.1646A>G (p.Asn549Ser) rs2131262599
NM_004408.4(DNM1):c.1665T>C (p.Asp555=)
NM_004408.4(DNM1):c.1671+7C>G
NM_004408.4(DNM1):c.1671+7C>T
NM_004408.4(DNM1):c.1678G>C (p.Glu560Gln)
NM_004408.4(DNM1):c.1687T>C (p.Tyr563His)
NM_004408.4(DNM1):c.1690A>T (p.Met564Leu) rs2131283540
NM_004408.4(DNM1):c.1698T>C (p.Ser566=) rs749674787
NM_004408.4(DNM1):c.1714C>T (p.Leu572=) rs2131283571
NM_004408.4(DNM1):c.1718G>A (p.Arg573Gln)
NM_004408.4(DNM1):c.1723G>A (p.Val575Met) rs748647924
NM_004408.4(DNM1):c.1726G>A (p.Glu576Lys) rs2131283599
NM_004408.4(DNM1):c.1761C>T (p.Ala587=)
NM_004408.4(DNM1):c.176G>A (p.Arg59Gln)
NM_004408.4(DNM1):c.1781+16del
NM_004408.4(DNM1):c.1781+18G>C
NM_004408.4(DNM1):c.1781+4C>A
NM_004408.4(DNM1):c.1781+4C>T
NM_004408.4(DNM1):c.1781+5C>T rs1836821115
NM_004408.4(DNM1):c.1781+9C>T
NM_004408.4(DNM1):c.1782-13C>T
NM_004408.4(DNM1):c.1782-3C>T
NM_004408.4(DNM1):c.1782-8T>C
NM_004408.4(DNM1):c.1786G>A (p.Val596Ile) rs1588449769
NM_004408.4(DNM1):c.1807C>T (p.Leu603=)
NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys) rs1588449811
NM_004408.4(DNM1):c.1850A>G (p.Lys617Arg) rs1564352065
NM_004408.4(DNM1):c.1867G>T (p.Ala623Ser)
NM_004408.4(DNM1):c.1872C>T (p.Gly624=) rs1367619284
NM_004408.4(DNM1):c.1885C>T (p.Arg629Cys)
NM_004408.4(DNM1):c.1888G>A (p.Val630Ile) rs1836896799
NM_004408.4(DNM1):c.1892G>A (p.Gly631Glu)
NM_004408.4(DNM1):c.1893+7G>T rs1157263142
NM_004408.4(DNM1):c.1894-10G>A
NM_004408.4(DNM1):c.1894-8C>T rs912124924
NM_004408.4(DNM1):c.1905+9G>T rs2131289646
NM_004408.4(DNM1):c.1905A>G (p.Lys635=)
NM_004408.4(DNM1):c.1906-12T>C
NM_004408.4(DNM1):c.1906-3C>T
NM_004408.4(DNM1):c.1918G>C (p.Glu640Gln)
NM_004408.4(DNM1):c.1918GAG[1] (p.Glu641del) rs748362979
NM_004408.4(DNM1):c.1920G>A (p.Glu640=) rs1554784647
NM_004408.4(DNM1):c.1928G>A (p.Gly643Asp) rs763245663
NM_004408.4(DNM1):c.1935C>T (p.Asp645=)
NM_004408.4(DNM1):c.1939T>C (p.Phe647Leu)
NM_004408.4(DNM1):c.1943T>C (p.Met648Thr)
NM_004408.4(DNM1):c.194C>T (p.Thr65Ile) rs2131148741
NM_004408.4(DNM1):c.1969C>A (p.Arg657=) rs2131291997
NM_004408.4(DNM1):c.197G>C (p.Arg66Pro)
NM_004408.4(DNM1):c.1983C>T (p.Thr661=)
NM_004408.4(DNM1):c.1987C>T (p.Arg663Trp)
NM_004408.4(DNM1):c.2009T>C (p.Met670Thr) rs1437208936
NM_004408.4(DNM1):c.2015T>C (p.Ile672Thr)
NM_004408.4(DNM1):c.2022C>T (p.Asn674=)
NM_004408.4(DNM1):c.2028C>G (p.Thr676=) rs1339784958
NM_004408.4(DNM1):c.2028C>T (p.Thr676=) rs1339784958
NM_004408.4(DNM1):c.2029G>C (p.Val677Leu)
NM_004408.4(DNM1):c.2031G>A (p.Val677=) rs1441521036
NM_004408.4(DNM1):c.2043G>A (p.Met681Ile)
NM_004408.4(DNM1):c.2045C>G (p.Pro682Arg)
NM_004408.4(DNM1):c.2055C>A (p.Ile685=)
NM_004408.4(DNM1):c.2057T>C (p.Met686Thr)
NM_004408.4(DNM1):c.2061C>T (p.His687=) rs1026710429
NM_004408.4(DNM1):c.2065A>G (p.Met689Val)
NM_004408.4(DNM1):c.2076+23del rs1237872802
NM_004408.4(DNM1):c.2077-16C>T
NM_004408.4(DNM1):c.2077-5C>G
NM_004408.4(DNM1):c.2077-8A>G
NM_004408.4(DNM1):c.2082G>A (p.Lys694=) rs1284689897
NM_004408.4(DNM1):c.208G>A (p.Val70Ile)
NM_004408.4(DNM1):c.2106G>C (p.Leu702=)
NM_004408.4(DNM1):c.2121G>A (p.Ser707=)
NM_004408.4(DNM1):c.2121G>T (p.Ser707=)
NM_004408.4(DNM1):c.2128G>C (p.Asp710His) rs2131297334
NM_004408.4(DNM1):c.2155G>T (p.Ala719Ser)
NM_004408.4(DNM1):c.2156C>G (p.Ala719Gly) rs1432815882
NM_004408.4(DNM1):c.2156C>T (p.Ala719Val) rs1432815882
NM_004408.4(DNM1):c.2157G>C (p.Ala719=)
NM_004408.4(DNM1):c.2159A>G (p.Glu720Gly) rs1588457823
NM_004408.4(DNM1):c.2164G>T (p.Ala722Ser)
NM_004408.4(DNM1):c.216G>A (p.Gln72=) rs781185286
NM_004408.4(DNM1):c.2170C>A (p.Arg724=) rs1386035686
NM_004408.4(DNM1):c.2170C>T (p.Arg724Trp)
NM_004408.4(DNM1):c.2171G>A (p.Arg724Gln) rs1829428293
NM_004408.4(DNM1):c.2178C>T (p.Asp726=)
NM_004408.4(DNM1):c.2187G>A (p.Leu729=) rs749382749
NM_004408.4(DNM1):c.2190C>T (p.Arg730=)
NM_004408.4(DNM1):c.2198A>G (p.His733Arg)
NM_004408.4(DNM1):c.2208G>A (p.Lys736=) rs1829430358
NM_004408.4(DNM1):c.2211G>A (p.Glu737=)
NM_004408.4(DNM1):c.2240C>A (p.Thr747Lys) rs1829432262
NM_004408.4(DNM1):c.2240C>T (p.Thr747Met)
NM_004408.4(DNM1):c.2241G>C (p.Thr747=) rs1184149576
NM_004408.4(DNM1):c.2241G>T (p.Thr747=)
NM_004408.4(DNM1):c.224A>T (p.Asn75Ile)
NM_004408.4(DNM1):c.2251A>C (p.Ser751Arg)
NM_004408.4(DNM1):c.2253C>G (p.Ser751Arg) rs754280238
NM_004408.4(DNM1):c.2261T>C (p.Met754Thr)
NM_004408.4(DNM1):c.2271C>G (p.Pro757=) rs762520472
NM_004408.4(DNM1):c.2271C>T (p.Pro757=) rs762520472
NM_004408.4(DNM1):c.2289G>T (p.Leu763=) rs1393047937
NM_004408.4(DNM1):c.2296C>T (p.Gln766Ter) rs1829434336
NM_004408.4(DNM1):c.2299dup (p.Ser767fs) rs2131297826
NM_004408.4(DNM1):c.2306C>G (p.Pro769Arg)
NM_004408.4(DNM1):c.2318+14C>A rs1251375115
NM_004408.4(DNM1):c.2319-5C>G rs947802436
NM_004408.4(DNM1):c.2319-5C>T
NM_004408.4(DNM1):c.2319-8G>A
NM_004408.4(DNM1):c.2319-9C>T
NM_004408.4(DNM1):c.2327C>A (p.Thr776Lys) rs1490577876
NM_004408.4(DNM1):c.233C>A (p.Thr78Lys)
NM_004408.4(DNM1):c.2340G>A (p.Thr780=)
NM_004408.4(DNM1):c.235+18C>T
NM_004408.4(DNM1):c.235+9C>T rs1834733486
NM_004408.4(DNM1):c.2350C>G (p.Arg784Gly)
NM_004408.4(DNM1):c.2354C>T (p.Ala785Val)
NM_004408.4(DNM1):c.2356C>A (p.Pro786Thr) rs2131299453
NM_004408.4(DNM1):c.2359G>A (p.Ala787Thr) rs1286706539
NM_004408.4(DNM1):c.236-17G>T
NM_004408.4(DNM1):c.236-2A>C
NM_004408.4(DNM1):c.2369del (p.Pro790fs)
NM_004408.4(DNM1):c.2375_2393del (p.Arg792fs)
NM_004408.4(DNM1):c.2385G>A (p.Ser795=)
NM_004408.4(DNM1):c.2389G>A (p.Gly797Ser) rs1259228242
NM_004408.4(DNM1):c.2390G>T (p.Gly797Val) rs1486970211
NM_004408.4(DNM1):c.2391C>G (p.Gly797=) rs1057521943
NM_004408.4(DNM1):c.2391C>T (p.Gly797=) rs1057521943
NM_004408.4(DNM1):c.2395G>A (p.Ala799Thr)
NM_004408.4(DNM1):c.2401G>A (p.Gly801Arg)
NM_004408.4(DNM1):c.2405C>T (p.Pro802Leu) rs1829472592
NM_004408.4(DNM1):c.2427G>C (p.Leu809=) rs897409469
NM_004408.4(DNM1):c.2429G>T (p.Gly810Val) rs888747029
NM_004408.4(DNM1):c.2430G>C (p.Gly810=)
NM_004408.4(DNM1):c.2434G>A (p.Ala812Thr)
NM_004408.4(DNM1):c.2434dup (p.Ala812fs) rs747024881
NM_004408.4(DNM1):c.243C>A (p.Ala81=)
NM_004408.4(DNM1):c.2445G>T (p.Val815=)
NM_004408.4(DNM1):c.2455C>A (p.Pro819Thr)
NM_004408.4(DNM1):c.2466C>A (p.Ser822=)
NM_004408.4(DNM1):c.2467C>G (p.Pro823Ala) rs2131299716
NM_004408.4(DNM1):c.2467C>T (p.Pro823Ser) rs2131299716
NM_004408.4(DNM1):c.2469T>G (p.Pro823=)
NM_004408.4(DNM1):c.246G>A (p.Glu82=)
NM_004408.4(DNM1):c.2474C>T (p.Pro825Leu) rs1295591580
NM_004408.4(DNM1):c.2483C>T (p.Pro828Leu) rs901408697
NM_004408.4(DNM1):c.2484T>A (p.Pro828=) rs888550421
NM_004408.4(DNM1):c.2486C>T (p.Pro829Leu)
NM_004408.4(DNM1):c.2496G>A (p.Val832=) rs2131299802
NM_004408.4(DNM1):c.2510A>C (p.Asn837Thr)
NM_004408.4(DNM1):c.2510A>G (p.Asn837Ser)
NM_004408.4(DNM1):c.2510A>T (p.Asn837Ile)
NM_004408.4(DNM1):c.2526G>T (p.Gly842=) rs1390465556
NM_004408.4(DNM1):c.2531C>G (p.Pro844Arg) rs1564355393
NM_004408.4(DNM1):c.2534+1dup
NM_004408.4(DNM1):c.2534+7A>G
NM_004408.4(DNM1):c.2534G>A (p.Ser845Asn) rs1829479381
NM_004408.4(DNM1):c.2535-17T>C
NM_004408.4(DNM1):c.2535-1G>A
NM_004408.4(DNM1):c.2535-613C>T rs1385389663
NM_004408.4(DNM1):c.2537G>C (p.Arg846Pro) rs758567328
NM_004408.4(DNM1):c.2537G>T (p.Arg846Leu)
NM_004408.4(DNM1):c.2540C>A (p.Ser847Ter)
NM_004408.4(DNM1):c.2541G>T (p.Ser847=)
NM_004408.4(DNM1):c.2542G>A (p.Gly848Ser)
NM_004408.4(DNM1):c.2542_2559dup (p.Gly848_Ser853dup) rs1564358652
NM_004408.4(DNM1):c.2544T>G (p.Gly848=)
NM_004408.4(DNM1):c.2566G>A (p.Glu856Lys)
NM_004408.4(DNM1):c.2576G>A (p.Arg859Lys)
NM_004408.4(DNM1):c.2581C>G (p.Pro861Ala)
NM_004408.4(DNM1):c.2582C>G (p.Pro861Arg) rs187315526
NM_004408.4(DNM1):c.2582C>T (p.Pro861Leu) rs187315526
NM_004408.4(DNM1):c.2583dup (p.Phe862fs) rs1244967245
NM_004408.4(DNM1):c.2584T>G (p.Phe862Val) rs2131314418
NM_004408.4(DNM1):c.2592C>T (p.Leu864=) rs2131314459
NM_004408.4(DNM1):c.2594A>G (p.Ter865=) rs550838267
NM_004408.4(DNM1):c.263_264delinsCT (p.Gly88Ala) rs2131150312
NM_004408.4(DNM1):c.265A>G (p.Lys89Glu)
NM_004408.4(DNM1):c.284A>G (p.Glu95Gly) rs1316212573
NM_004408.4(DNM1):c.285G>C (p.Glu95Asp)
NM_004408.4(DNM1):c.292C>T (p.Arg98Cys)
NM_004408.4(DNM1):c.2T>C (p.Met1Thr)
NM_004408.4(DNM1):c.304G>A (p.Glu102Lys) rs2131150438
NM_004408.4(DNM1):c.320G>A (p.Arg107Lys)
NM_004408.4(DNM1):c.327C>T (p.Thr109=)
NM_004408.4(DNM1):c.33_34delinsAA (p.Leu12Met)
NM_004408.4(DNM1):c.342C>T (p.Gly114=) rs553331150
NM_004408.4(DNM1):c.350C>T (p.Pro117Leu) rs776104715
NM_004408.4(DNM1):c.352G>A (p.Val118Met) rs1834758362
NM_004408.4(DNM1):c.359_361dup (p.Ile120_Asn121insIle)
NM_004408.4(DNM1):c.375C>T (p.Tyr125=) rs2131150705
NM_004408.4(DNM1):c.383A>G (p.His128Arg) rs368475266
NM_004408.4(DNM1):c.385+11T>C
NM_004408.4(DNM1):c.385+18G>A rs2131150824
NM_004408.4(DNM1):c.385+18G>C
NM_004408.4(DNM1):c.385+8C>T
NM_004408.4(DNM1):c.386-11G>T
NM_004408.4(DNM1):c.386-4C>G
NM_004408.4(DNM1):c.386-7T>C rs1588352214
NM_004408.4(DNM1):c.38T>C (p.Val13Ala) rs969698049
NM_004408.4(DNM1):c.395T>G (p.Leu132Arg)
NM_004408.4(DNM1):c.402G>A (p.Leu134=) rs777767122
NM_004408.4(DNM1):c.406G>A (p.Asp136Asn)
NM_004408.4(DNM1):c.411G>A (p.Leu137=)
NM_004408.4(DNM1):c.411G>T (p.Leu137=) rs1051766292
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg) rs1564328617
NM_004408.4(DNM1):c.415_423del (p.Gly139_Thr141del)
NM_004408.4(DNM1):c.416G>A (p.Gly139Glu) rs1554772913
NM_004408.4(DNM1):c.416G>C (p.Gly139Ala)
NM_004408.4(DNM1):c.427G>C (p.Val143Leu) rs1834788549
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu) rs1588352395
NM_004408.4(DNM1):c.435G>T (p.Val145=)
NM_004408.4(DNM1):c.438G>A (p.Gly146=)
NM_004408.4(DNM1):c.43C>G (p.Arg15Gly) rs1320569379
NM_004408.4(DNM1):c.442C>A (p.Gln148Lys) rs1554772945
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg) rs1554772959
NM_004408.4(DNM1):c.457G>A (p.Glu153Lys) rs1554772974
NM_004408.4(DNM1):c.465_467dup (p.Gln155_Ile156insMet) rs1057518655
NM_004408.4(DNM1):c.468C>T (p.Ile156=)
NM_004408.4(DNM1):c.470G>A (p.Arg157Gln) rs2131152872
NM_004408.4(DNM1):c.471A>G (p.Arg157=) rs2131152882
NM_004408.4(DNM1):c.507C>T (p.Cys169=)
NM_004408.4(DNM1):c.519C>T (p.Ala173=) rs2131152966
NM_004408.4(DNM1):c.529G>C (p.Ala177Pro) rs587777860
NM_004408.4(DNM1):c.532A>T (p.Asn178Tyr) rs1834792032
NM_004408.4(DNM1):c.535T>A (p.Ser179Thr)
NM_004408.4(DNM1):c.54C>T (p.Asp18=) rs2131061036
NM_004408.4(DNM1):c.560T>C (p.Leu187Pro)
NM_004408.4(DNM1):c.578T>C (p.Val193Ala)
NM_004408.4(DNM1):c.582C>A (p.Asp194Glu)
NM_004408.4(DNM1):c.583C>A (p.Pro195Thr)
NM_004408.4(DNM1):c.588G>A (p.Gln196=) rs1834794265
NM_004408.4(DNM1):c.589+14C>G
NM_004408.4(DNM1):c.589+19G>A
NM_004408.4(DNM1):c.589+4G>A
NM_004408.4(DNM1):c.589+4G>T rs751407306
NM_004408.4(DNM1):c.589+8C>T rs1588352832
NM_004408.4(DNM1):c.589G>C (p.Gly197Arg)
NM_004408.4(DNM1):c.599C>T (p.Thr200Ile) rs1834848160
NM_004408.4(DNM1):c.603C>G (p.Ile201Met)
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg) rs1057524561
NM_004408.4(DNM1):c.604G>T (p.Gly202Trp)
NM_004408.4(DNM1):c.609C>T (p.Val203=) rs1430929380
NM_004408.4(DNM1):c.618G>C (p.Lys206Asn) rs587777861
NM_004408.4(DNM1):c.632A>T (p.Asp211Val)
NM_004408.4(DNM1):c.643_646delinsA (p.Asp215_Ala216delinsThr) rs1588355906
NM_004408.4(DNM1):c.644A>T (p.Asp215Val)
NM_004408.4(DNM1):c.646G>A (p.Ala216Thr)
NM_004408.4(DNM1):c.654T>G (p.Asp218Glu)
NM_004408.4(DNM1):c.669G>A (p.Lys223=) rs2131157240
NM_004408.4(DNM1):c.676C>T (p.Pro226Ser)
NM_004408.4(DNM1):c.680T>G (p.Leu227Arg)
NM_004408.4(DNM1):c.682C>T (p.Arg228Cys) rs1444380018
NM_004408.4(DNM1):c.683G>A (p.Arg228His) rs866946278
NM_004408.4(DNM1):c.685A>G (p.Arg229Gly) rs1834851998
NM_004408.4(DNM1):c.688+11C>T rs2131157325
NM_004408.4(DNM1):c.688+13T>C
NM_004408.4(DNM1):c.688+16C>A
NM_004408.4(DNM1):c.688+16C>G
NM_004408.4(DNM1):c.688+17C>T
NM_004408.4(DNM1):c.688+18C>G rs1253064816
NM_004408.4(DNM1):c.688+18C>T
NM_004408.4(DNM1):c.689-11A>T
NM_004408.4(DNM1):c.689-7T>C
NM_004408.4(DNM1):c.689G>A (p.Gly230Asp) rs1834860828
NM_004408.4(DNM1):c.694A>G (p.Ile232Val)
NM_004408.4(DNM1):c.6C>T (p.Gly2=) rs1833612492
NM_004408.4(DNM1):c.703G>A (p.Val235Met) rs2131157918
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004408.4(DNM1):c.718_720del (p.Lys240del)
NM_004408.4(DNM1):c.723C>T (p.Asp241=)
NM_004408.4(DNM1):c.741C>T (p.Asp247=)
NM_004408.4(DNM1):c.745A>G (p.Thr249Ala)
NM_004408.4(DNM1):c.750C>T (p.Ala250=) rs778276496
NM_004408.4(DNM1):c.753C>T (p.Ala251=) rs1834862864
NM_004408.4(DNM1):c.757G>T (p.Ala253Ser) rs752005713
NM_004408.4(DNM1):c.766C>T (p.Arg256Ter) rs1456731322
NM_004408.4(DNM1):c.767G>A (p.Arg256Gln)
NM_004408.4(DNM1):c.767del (p.Arg256fs) rs2131158061
NM_004408.4(DNM1):c.780C>G (p.Leu260=)
NM_004408.4(DNM1):c.786T>A (p.His262Gln) rs1376656660
NM_004408.4(DNM1):c.791C>A (p.Ser264Tyr) rs778811040
NM_004408.4(DNM1):c.792T>A (p.Ser264=)
NM_004408.4(DNM1):c.796C>A (p.Arg266Ser) rs138053929
NM_004408.4(DNM1):c.801C>T (p.His267=)
NM_004408.4(DNM1):c.807T>C (p.Ala269=) rs1261949821
NM_004408.4(DNM1):c.811C>T (p.Arg271Cys) rs1834865373
NM_004408.4(DNM1):c.81G>A (p.Ala27=) rs1268920821
NM_004408.4(DNM1):c.821C>T (p.Thr274Met) rs1284660372
NM_004408.4(DNM1):c.824C>T (p.Pro275Leu) rs1156961123
NM_004408.4(DNM1):c.825C>G (p.Pro275=) rs1588357060
NM_004408.4(DNM1):c.843C>T (p.Leu281=) rs764376283
NM_004408.4(DNM1):c.845A>G (p.Asn282Ser)
NM_004408.4(DNM1):c.849+10C>A rs2131158360
NM_004408.4(DNM1):c.84C>T (p.Asp28=)
NM_004408.4(DNM1):c.858G>A (p.Thr286=)
NM_004408.4(DNM1):c.865A>T (p.Ile289Phe) rs1554774401
NM_004408.4(DNM1):c.876A>G (p.Thr292=) rs1194475149
NM_004408.4(DNM1):c.888G>A (p.Leu296=)
NM_004408.4(DNM1):c.889C>T (p.Arg297Trp)
NM_004408.4(DNM1):c.891G>C (p.Arg297=) rs2131172668
NM_004408.4(DNM1):c.898C>T (p.Leu300=)
NM_004408.4(DNM1):c.905G>A (p.Ser302Asn) rs1564332436
NM_004408.4(DNM1):c.909G>A (p.Gln303=)
NM_004408.4(DNM1):c.921T>C (p.Ile307=)
NM_004408.4(DNM1):c.929A>G (p.Glu310Gly) rs1835069996
NM_004408.4(DNM1):c.930G>A (p.Glu310=) rs1272441165
NM_004408.4(DNM1):c.942C>T (p.Tyr314=)
NM_004408.4(DNM1):c.944A>G (p.Lys315Arg) rs1564332523
NM_004408.4(DNM1):c.945G>T (p.Lys315Asn) rs528406413
NM_004408.4(DNM1):c.952C>T (p.Arg318Cys) rs892194903
NM_004408.4(DNM1):c.954C>T (p.Arg318=) rs774518740
NM_004408.4(DNM1):c.956C>T (p.Pro319Leu)
NM_004408.4(DNM1):c.958G>C (p.Asp320His) rs1588368840
NM_004408.4(DNM1):c.95C>T (p.Pro32Leu) rs1833619327
NM_004408.4(DNM1):c.963C>A (p.Asp321Glu)
NM_004408.4(DNM1):c.967G>T (p.Ala323Ser)
NM_004408.4(DNM1):c.970C>T (p.Arg324Cys)
NM_004408.4(DNM1):c.985C>G (p.Leu329Val) rs868772525
NM_004408.4(DNM1):c.992+13C>T
NM_004408.4(DNM1):c.992+3G>A
NM_004408.4(DNM1):c.993-13_993-11del
NM_004408.4(DNM1):c.993-17C>T
NM_004408.4(DNM1):c.993-19C>G rs1835081298
NM_004408.4(DNM1):c.993-6C>T rs1196657001
NM_004408.4(DNM1):c.996G>A (p.Met332Ile)
NM_004974.4(KCNA2):c.*9361G>A
NM_004974.4(KCNA2):c.1013G>A (p.Gly338Glu) rs1553181301
NM_004974.4(KCNA2):c.1015G>T (p.Val339Phe)
NM_004974.4(KCNA2):c.1018_1020del (p.Ile340del)
NM_004974.4(KCNA2):c.1022T>C (p.Leu341Pro) rs2101397797
NM_004974.4(KCNA2):c.1028C>T (p.Ser343Phe) rs1557732150
NM_004974.4(KCNA2):c.1028_1037dup (p.Val346_Tyr347insTer) rs2101397670
NM_004974.4(KCNA2):c.1031dup (p.Ser344fs) rs1553181298
NM_004974.4(KCNA2):c.1034C>T (p.Ala345Val) rs2101397708
NM_004974.4(KCNA2):c.1036G>A (p.Val346Met)
NM_004974.4(KCNA2):c.1054G>A (p.Asp352Asn)
NM_004974.4(KCNA2):c.1056T>C (p.Asp352=)
NM_004974.4(KCNA2):c.1060C>T (p.Arg354Ter)
NM_004974.4(KCNA2):c.1065G>T (p.Glu355Asp) rs1308544471
NM_004974.4(KCNA2):c.1067C>G (p.Ser356Cys) rs1317841788
NM_004974.4(KCNA2):c.1071G>T (p.Gln357His)
NM_004974.4(KCNA2):c.1074C>T (p.Phe358=) rs749482104
NM_004974.4(KCNA2):c.1080C>T (p.Ser360=) rs1347753369
NM_004974.4(KCNA2):c.1103C>A (p.Ala368Glu) rs2101397307
NM_004974.4(KCNA2):c.1110C>G (p.Val370=) rs746352821
NM_004974.4(KCNA2):c.1118C>A (p.Thr373Lys)
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile) rs1553181282
NM_004974.4(KCNA2):c.1119A>G (p.Thr373=)
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala) rs1553181280
NM_004974.4(KCNA2):c.1127G>C (p.Gly376Ala) rs1557732017
NM_004974.4(KCNA2):c.1129T>C (p.Tyr377His)
NM_004974.4(KCNA2):c.1130A>G (p.Tyr377Cys)
NM_004974.4(KCNA2):c.1144C>G (p.Pro382Ala)
NM_004974.4(KCNA2):c.1145C>T (p.Pro382Leu) rs777008812
NM_004974.4(KCNA2):c.1147A>C (p.Thr383Pro) rs2101396868
NM_004974.4(KCNA2):c.1149T>C (p.Thr383=)
NM_004974.4(KCNA2):c.1158G>A (p.Gly386=)
NM_004974.4(KCNA2):c.1169T>A (p.Val390Glu)
NM_004974.4(KCNA2):c.1169T>G (p.Val390Gly) rs2101396730
NM_004974.4(KCNA2):c.1171G>T (p.Gly391Cys)
NM_004974.4(KCNA2):c.1175C>T (p.Ser392Phe) rs2101396713
NM_004974.4(KCNA2):c.1178T>A (p.Leu393Gln)
NM_004974.4(KCNA2):c.1179A>C (p.Leu393=)
NM_004974.4(KCNA2):c.1184C>G (p.Ala395Gly)
NM_004974.4(KCNA2):c.1185G>A (p.Ala395=) rs78349687
NM_004974.4(KCNA2):c.1185G>C (p.Ala395=) rs78349687
NM_004974.4(KCNA2):c.1193G>A (p.Gly398Asp)
NM_004974.4(KCNA2):c.1195G>A (p.Val399Met) rs1064794738
NM_004974.4(KCNA2):c.1196T>G (p.Val399Gly) rs1649457707
NM_004974.4(KCNA2):c.1204A>G (p.Ile402Val) rs1366237350
NM_004974.4(KCNA2):c.1205T>C (p.Ile402Thr) rs2101396495
NM_004974.4(KCNA2):c.1207G>T (p.Ala403Ser)
NM_004974.4(KCNA2):c.1208C>T (p.Ala403Val) rs1649457143
NM_004974.4(KCNA2):c.120A>G (p.Ser40=) rs1570754076
NM_004974.4(KCNA2):c.1210T>A (p.Leu404Ile) rs2101396443
NM_004974.4(KCNA2):c.1211T>C (p.Leu404Ser)
NM_004974.4(KCNA2):c.1213C>T (p.Pro405Ser)
NM_004974.4(KCNA2):c.1214C>G (p.Pro405Arg) rs876657389
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004974.4(KCNA2):c.1215G>C (p.Pro405=)
NM_004974.4(KCNA2):c.1216G>A (p.Val406Ile) rs1553181257
NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe) rs1553181257
NM_004974.4(KCNA2):c.1219C>G (p.Pro407Ala) rs1557731896
NM_004974.4(KCNA2):c.1219C>T (p.Pro407Ser) rs1557731896
NM_004974.4(KCNA2):c.1220C>G (p.Pro407Arg) rs2101396301
NM_004974.4(KCNA2):c.1220C>T (p.Pro407Leu)
NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala) rs1570752696
NM_004974.4(KCNA2):c.1223T>G (p.Val408Gly) rs1570752696
NM_004974.4(KCNA2):c.1225A>C (p.Ile409Leu)
NM_004974.4(KCNA2):c.1226T>A (p.Ile409Asn)
NM_004974.4(KCNA2):c.1228G>A (p.Val410Met)
NM_004974.4(KCNA2):c.1242C>A (p.Asn414Lys) rs749520613
NM_004974.4(KCNA2):c.1242C>G (p.Asn414Lys) rs749520613
NM_004974.4(KCNA2):c.1248C>A (p.Phe416Leu) rs2101396138
NM_004974.4(KCNA2):c.1250A>G (p.Tyr417Cys) rs1557731858
NM_004974.4(KCNA2):c.1254C>T (p.His418=)
NM_004974.4(KCNA2):c.1255C>T (p.Arg419Trp) rs1421981152
NM_004974.4(KCNA2):c.1256G>T (p.Arg419Leu)
NM_004974.4(KCNA2):c.1263_1266del (p.Gly423fs) rs1649454214
NM_004974.4(KCNA2):c.1265_1266del (p.Glu422fs) rs1064796294
NM_004974.4(KCNA2):c.1275A>G (p.Glu425=) rs1468166534
NM_004974.4(KCNA2):c.1276C>T (p.Gln426Ter)
NM_004974.4(KCNA2):c.127C>T (p.Arg43Trp) rs2101404053
NM_004974.4(KCNA2):c.1288T>C (p.Leu430=)
NM_004974.4(KCNA2):c.1297A>G (p.Thr433Ala)
NM_004974.4(KCNA2):c.12C>T (p.Ala4=) rs1570754202
NM_004974.4(KCNA2):c.1304G>A (p.Cys435Tyr) rs1553181236
NM_004974.4(KCNA2):c.1304G>C (p.Cys435Ser) rs1553181236
NM_004974.4(KCNA2):c.1311G>T (p.Lys437Asn)
NM_004974.4(KCNA2):c.1320C>T (p.Ser440=)
NM_004974.4(KCNA2):c.1338A>G (p.Lys446=)
NM_004974.4(KCNA2):c.1340G>T (p.Ser447Ile)
NM_004974.4(KCNA2):c.1354A>G (p.Thr452Ala) rs765999960
NM_004974.4(KCNA2):c.1354A>T (p.Thr452Ser) rs765999960
NM_004974.4(KCNA2):c.1372T>C (p.Tyr458His) rs1649446402
NM_004974.4(KCNA2):c.1380G>T (p.Glu460Asp) rs1649445890
NM_004974.4(KCNA2):c.1383C>T (p.Ile461=)
NM_004974.4(KCNA2):c.1389G>A (p.Glu463=)
NM_004974.4(KCNA2):c.1395A>G (p.Val465=)
NM_004974.4(KCNA2):c.1416T>C (p.Phe472=) rs1181780424
NM_004974.4(KCNA2):c.1417A>G (p.Arg473Gly)
NM_004974.4(KCNA2):c.141G>T (p.Gln47His)
NM_004974.4(KCNA2):c.1422G>A (p.Glu474=) rs2101394728
NM_004974.4(KCNA2):c.1431G>A (p.Leu477=)
NM_004974.4(KCNA2):c.1445G>A (p.Cys482Tyr)
NM_004974.4(KCNA2):c.1464C>T (p.Asn488=)
NM_004974.4(KCNA2):c.1499G>A (p.Ter500=)
NM_004974.4(KCNA2):c.150C>A (p.Thr50=)
NM_004974.4(KCNA2):c.151T>C (p.Leu51=) rs2101403936
NM_004974.4(KCNA2):c.155C>T (p.Ala52Val)
NM_004974.4(KCNA2):c.15C>T (p.Thr5=)
NM_004974.4(KCNA2):c.165A>G (p.Pro55=) rs2101403846
NM_004974.4(KCNA2):c.166G>C (p.Glu56Gln)
NM_004974.4(KCNA2):c.16G>A (p.Gly6Arg)
NM_004974.4(KCNA2):c.170C>T (p.Thr57Ile) rs1649517174
NM_004974.4(KCNA2):c.171C>T (p.Thr57=)
NM_004974.4(KCNA2):c.172C>T (p.Leu58Phe)
NM_004974.4(KCNA2):c.181del (p.Asp61fs)
NM_004974.4(KCNA2):c.189G>T (p.Lys63Asn)
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter) rs763353895
NM_004974.4(KCNA2):c.196del (p.Arg65_Met66insTer) rs2101403658
NM_004974.4(KCNA2):c.204C>T (p.Tyr68=)
NM_004974.4(KCNA2):c.20A>T (p.Asp7Val)
NM_004974.4(KCNA2):c.212C>T (p.Pro71Leu)
NM_004974.4(KCNA2):c.216C>T (p.Leu72=)
NM_004974.4(KCNA2):c.217C>T (p.Arg73Ter) rs1570753974
NM_004974.4(KCNA2):c.231T>C (p.Phe77=)
NM_004974.4(KCNA2):c.235G>A (p.Asp79Asn) rs747844549
NM_004974.4(KCNA2):c.235G>C (p.Asp79His)
NM_004974.4(KCNA2):c.235G>T (p.Asp79Tyr) rs747844549
NM_004974.4(KCNA2):c.238C>T (p.Arg80Trp) rs1448937059
NM_004974.4(KCNA2):c.239G>A (p.Arg80Gln) rs1649513909
NM_004974.4(KCNA2):c.23C>A (p.Pro8Gln)
NM_004974.4(KCNA2):c.244C>T (p.Arg82Cys) rs1433727837
NM_004974.4(KCNA2):c.245G>A (p.Arg82His) rs1386301058
NM_004974.4(KCNA2):c.246C>T (p.Arg82=)
NM_004974.4(KCNA2):c.260C>G (p.Ala87Gly)
NM_004974.4(KCNA2):c.261C>T (p.Ala87=) rs749146957
NM_004974.4(KCNA2):c.267G>A (p.Leu89=)
NM_004974.4(KCNA2):c.276C>T (p.Tyr92=) rs1553181436
NM_004974.4(KCNA2):c.277C>T (p.Gln93Ter) rs1649511099
NM_004974.4(KCNA2):c.282A>G (p.Ser94=) rs1649510855
NM_004974.4(KCNA2):c.282_283del (p.Gly96fs) rs1570753862
NM_004974.4(KCNA2):c.289C>T (p.Arg97Ter)
NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter) rs1649509389
NM_004974.4(KCNA2):c.299G>A (p.Arg100Gln) rs1649509246
NM_004974.4(KCNA2):c.308A>C (p.Asn103Thr)
NM_004974.4(KCNA2):c.308A>G (p.Asn103Ser) rs1361080553
NM_004974.4(KCNA2):c.315C>T (p.Pro105=) rs2101402754
NM_004974.4(KCNA2):c.317T>C (p.Leu106Ser) rs2101402741
NM_004974.4(KCNA2):c.329C>T (p.Ser110Phe) rs1649507829
NM_004974.4(KCNA2):c.340C>A (p.Arg114=)
NM_004974.4(KCNA2):c.341G>A (p.Arg114Gln)
NM_004974.4(KCNA2):c.351G>T (p.Glu117Asp) rs1649507257
NM_004974.4(KCNA2):c.356G>A (p.Gly119Glu)
NM_004974.4(KCNA2):c.356G>C (p.Gly119Ala)
NM_004974.4(KCNA2):c.362A>G (p.Glu121Gly)
NM_004974.4(KCNA2):c.364G>A (p.Ala122Thr) rs1366378482
NM_004974.4(KCNA2):c.365C>T (p.Ala122Val)
NM_004974.4(KCNA2):c.372G>C (p.Glu124Asp)
NM_004974.4(KCNA2):c.380G>A (p.Arg127Gln)
NM_004974.4(KCNA2):c.384A>G (p.Glu128=)
NM_004974.4(KCNA2):c.38C>T (p.Ala13Val)
NM_004974.4(KCNA2):c.412C>T (p.Arg138Cys)
NM_004974.4(KCNA2):c.422C>A (p.Pro141His) rs1649502580
NM_004974.4(KCNA2):c.43C>G (p.Leu15Val) rs1649522982
NM_004974.4(KCNA2):c.443_454del (p.Gln148_Leu151del) rs2101401796
NM_004974.4(KCNA2):c.448T>C (p.Trp150Arg) rs1649500367
NM_004974.4(KCNA2):c.450G>T (p.Trp150Cys) rs2101401817
NM_004974.4(KCNA2):c.466C>T (p.Pro156Ser) rs1649498927
NM_004974.4(KCNA2):c.468A>T (p.Pro156=)
NM_004974.4(KCNA2):c.46C>T (p.Pro16Ser) rs1570754155
NM_004974.4(KCNA2):c.47C>G (p.Pro16Arg) rs1649522718
NM_004974.4(KCNA2):c.480G>T (p.Gly160=)
NM_004974.4(KCNA2):c.485C>A (p.Ala162Asp)
NM_004974.4(KCNA2):c.488G>A (p.Arg163Lys)
NM_004974.4(KCNA2):c.490A>G (p.Ile164Val)
NM_004974.4(KCNA2):c.494T>A (p.Ile165Lys)
NM_004974.4(KCNA2):c.513G>T (p.Met171Ile)
NM_004974.4(KCNA2):c.520C>A (p.Leu174Met) rs2101401415
NM_004974.4(KCNA2):c.522G>C (p.Leu174=) rs1649495668
NM_004974.4(KCNA2):c.531T>A (p.Ile177=)
NM_004974.4(KCNA2):c.534C>A (p.Val178=)
NM_004974.4(KCNA2):c.536G>A (p.Ser179Asn) rs2101401302
NM_004974.4(KCNA2):c.537C>T (p.Ser179=)
NM_004974.4(KCNA2):c.53A>G (p.His18Arg)
NM_004974.4(KCNA2):c.542G>A (p.Cys181Tyr)
NM_004974.4(KCNA2):c.546G>A (p.Leu182=) rs2101401198
NM_004974.4(KCNA2):c.547G>A (p.Glu183Lys) rs1553181398
NM_004974.4(KCNA2):c.551C>T (p.Thr184Ile)
NM_004974.4(KCNA2):c.553T>C (p.Leu185=)
NM_004974.4(KCNA2):c.559A>G (p.Ile187Val)
NM_004974.4(KCNA2):c.566G>A (p.Arg189Gln)
NM_004974.4(KCNA2):c.569A>T (p.Asp190Val)
NM_004974.4(KCNA2):c.576T>C (p.Asn192=) rs1438869224
NM_004974.4(KCNA2):c.582C>T (p.Asp194=) rs2101400875
NM_004974.4(KCNA2):c.585dup (p.His196fs)
NM_004974.4(KCNA2):c.587A>G (p.His196Arg)
NM_004974.4(KCNA2):c.592A>G (p.Ser198Gly) rs1649489553
NM_004974.4(KCNA2):c.611C>G (p.Thr204Ser)
NM_004974.4(KCNA2):c.611C>T (p.Thr204Ile) rs1421276694
NM_004974.4(KCNA2):c.614A>T (p.Tyr205Phe)
NM_004974.4(KCNA2):c.61G>A (p.Asp21Asn)
NM_004974.4(KCNA2):c.621C>A (p.Asn207Lys)
NM_004974.4(KCNA2):c.622A>G (p.Ser208Gly)
NM_004974.4(KCNA2):c.625A>G (p.Thr209Ala) rs1649486218
NM_004974.4(KCNA2):c.626C>T (p.Thr209Ile)
NM_004974.4(KCNA2):c.627del (p.Ile210fs) rs1649486083
NM_004974.4(KCNA2):c.628A>G (p.Ile210Val) rs1649485938
NM_004974.4(KCNA2):c.630C>T (p.Ile210=) rs761112803
NM_004974.4(KCNA2):c.631G>A (p.Gly211Arg) rs149727427
NM_004974.4(KCNA2):c.636C>G (p.Tyr212Ter)
NM_004974.4(KCNA2):c.637C>T (p.Gln213Ter)
NM_004974.4(KCNA2):c.640C>A (p.Gln214Lys)
NM_004974.4(KCNA2):c.647C>T (p.Thr216Ile)
NM_004974.4(KCNA2):c.650C>A (p.Ser217Tyr)
NM_004974.4(KCNA2):c.653dup (p.Thr219fs)
NM_004974.4(KCNA2):c.656C>A (p.Thr219Lys)
NM_004974.4(KCNA2):c.663T>G (p.Pro221=)
NM_004974.4(KCNA2):c.673G>A (p.Val225Ile)
NM_004974.4(KCNA2):c.680C>T (p.Thr227Ile) rs2101400149
NM_004974.4(KCNA2):c.684C>T (p.Leu228=)
NM_004974.4(KCNA2):c.684_685del (p.Cys229fs) rs1649483920
NM_004974.4(KCNA2):c.686G>A (p.Cys229Tyr) rs2101400052
NM_004974.4(KCNA2):c.687C>T (p.Cys229=)
NM_004974.4(KCNA2):c.692T>C (p.Ile231Thr)
NM_004974.4(KCNA2):c.695G>C (p.Trp232Ser) rs1570753354
NM_004974.4(KCNA2):c.69T>C (p.Tyr23=)
NM_004974.4(KCNA2):c.700T>C (p.Ser234Pro) rs2101399899
NM_004974.4(KCNA2):c.711C>T (p.Phe237=) rs776028782
NM_004974.4(KCNA2):c.717G>A (p.Val239=)
NM_004974.4(KCNA2):c.71A>C (p.Asp24Ala)
NM_004974.4(KCNA2):c.720_721del (p.Arg240fs)
NM_004974.4(KCNA2):c.727G>C (p.Ala243Pro)
NM_004974.4(KCNA2):c.730T>C (p.Cys244Arg)
NM_004974.4(KCNA2):c.731G>A (p.Cys244Tyr) rs2101399724
NM_004974.4(KCNA2):c.737G>T (p.Ser246Ile) rs1649481724
NM_004974.4(KCNA2):c.746G>C (p.Gly249Ala)
NM_004974.4(KCNA2):c.747C>T (p.Gly249=)
NM_004974.4(KCNA2):c.74C>T (p.Pro25Leu)
NM_004974.4(KCNA2):c.761T>A (p.Ile254Asn) rs1649480102
NM_004974.4(KCNA2):c.764T>A (p.Met255Lys)
NM_004974.4(KCNA2):c.765_773del (p.Met255_Ile257del) rs2101399429
NM_004974.4(KCNA2):c.767A>T (p.Asn256Ile) rs2101399466
NM_004974.4(KCNA2):c.773T>A (p.Ile258Asn)
NM_004974.4(KCNA2):c.776A>C (p.Asp259Ala) rs1649479585
NM_004974.4(KCNA2):c.781G>T (p.Val261Leu)
NM_004974.4(KCNA2):c.782T>C (p.Val261Ala) rs1649479037
NM_004974.4(KCNA2):c.785C>T (p.Ala262Val)
NM_004974.4(KCNA2):c.787A>G (p.Ile263Val)
NM_004974.4(KCNA2):c.788T>C (p.Ile263Thr) rs786205231
NM_004974.4(KCNA2):c.789C>A (p.Ile263=) rs2101399331
NM_004974.4(KCNA2):c.806C>T (p.Thr269Ile) rs2101399201
NM_004974.4(KCNA2):c.808C>T (p.Leu270=)
NM_004974.4(KCNA2):c.808del (p.Leu270fs) rs2101399144
NM_004974.4(KCNA2):c.815dup (p.Glu273fs)
NM_004974.4(KCNA2):c.841G>T (p.Ala281Ser) rs753926939
NM_004974.4(KCNA2):c.844C>T (p.Gln282Ter) rs1570753182
NM_004974.4(KCNA2):c.851G>A (p.Gly284Asp) rs1246925002
NM_004974.4(KCNA2):c.852C>A (p.Gly284=) rs779997835
NM_004974.4(KCNA2):c.861_862del (p.Met288fs)
NM_004974.4(KCNA2):c.863T>C (p.Met288Thr)
NM_004974.4(KCNA2):c.86A>C (p.His29Pro)
NM_004974.4(KCNA2):c.87C>T (p.His29=) rs2101404284
NM_004974.4(KCNA2):c.880C>T (p.Arg294Cys)
NM_004974.4(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004974.4(KCNA2):c.881G>C (p.Arg294Pro)
NM_004974.4(KCNA2):c.888C>T (p.Ile296=)
NM_004974.4(KCNA2):c.889C>T (p.Arg297Trp) rs1649473972
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004974.4(KCNA2):c.891G>C (p.Arg297=)
NM_004974.4(KCNA2):c.894G>T (p.Leu298Phe) rs876657390
NM_004974.4(KCNA2):c.894_895delinsAC (p.Val299Leu)
NM_004974.4(KCNA2):c.895G>C (p.Val299Leu) rs1553181334
NM_004974.4(KCNA2):c.900A>C (p.Arg300Ser)
NM_004974.4(KCNA2):c.900A>T (p.Arg300Ser) rs2101398595
NM_004974.4(KCNA2):c.905_906del (p.Val301_Phe302insTer) rs2101398557
NM_004974.4(KCNA2):c.918G>A (p.Lys306=)
NM_004974.4(KCNA2):c.919T>G (p.Leu307Val)
NM_004974.4(KCNA2):c.920T>G (p.Leu307Trp) rs1649471614
NM_004974.4(KCNA2):c.925A>G (p.Arg309Gly) rs2101398407
NM_004974.4(KCNA2):c.928C>T (p.His310Tyr)
NM_004974.4(KCNA2):c.929A>C (p.His310Pro) rs1649470988
NM_004974.4(KCNA2):c.929A>G (p.His310Arg) rs1649470988
NM_004974.4(KCNA2):c.933C>T (p.Ser311=) rs1649470586
NM_004974.4(KCNA2):c.937G>T (p.Gly313Cys) rs2101398263
NM_004974.4(KCNA2):c.939T>C (p.Gly313=)
NM_004974.4(KCNA2):c.941T>C (p.Leu314Pro)
NM_004974.4(KCNA2):c.945G>T (p.Gln315His)
NM_004974.4(KCNA2):c.957G>A (p.Gln319=) rs2101398216
NM_004974.4(KCNA2):c.959C>T (p.Thr320Ile) rs1553181323
NM_004974.4(KCNA2):c.960C>G (p.Thr320=)
NM_004974.4(KCNA2):c.961C>T (p.Leu321Phe) rs1557732226
NM_004974.4(KCNA2):c.974T>A (p.Met325Lys) rs2101398110
NM_004974.4(KCNA2):c.980A>T (p.Glu327Val) rs2101398077
NM_004974.4(KCNA2):c.982T>C (p.Leu328=)
NM_004974.4(KCNA2):c.988C>T (p.Leu330Phe)
NM_004974.4(KCNA2):c.991C>T (p.Leu331=) rs2101397993
NM_004974.4(KCNA2):c.997T>C (p.Phe333Leu) rs1557732183
NM_004975.4(KCNB1):c.1000C>T (p.Leu334Phe)
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) rs1555889108
NM_004975.4(KCNB1):c.1002C>G (p.Leu334=)
NM_004975.4(KCNB1):c.1006C>T (p.Leu336Phe) rs2146813900
NM_004975.4(KCNB1):c.1015G>C (p.Ala339Pro) rs1984255406
NM_004975.4(KCNB1):c.101G>A (p.Arg34His) rs2122803857
NM_004975.4(KCNB1):c.1020G>A (p.Met340Ile)
NM_004975.4(KCNB1):c.102C>T (p.Arg34=) rs2122803849
NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg) rs587777848
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)
NM_004975.4(KCNB1):c.1045G>T (p.Val349Phe) rs1569017205
NM_004975.4(KCNB1):c.1051T>G (p.Phe351Val)
NM_004975.4(KCNB1):c.1052T>C (p.Phe351Ser) rs2146813862
NM_004975.4(KCNB1):c.1062G>A (p.Lys354=)
NM_004975.4(KCNB1):c.1065_1066delinsAT (p.Asp355_Glu356delinsGluTer) rs2146813849
NM_004975.4(KCNB1):c.1079del (p.Lys360fs)
NM_004975.4(KCNB1):c.1080G>A (p.Lys360=)
NM_004975.4(KCNB1):c.1080G>C (p.Lys360Asn) rs2146813828
NM_004975.4(KCNB1):c.1088del (p.Ser363fs) rs1555889103
NM_004975.4(KCNB1):c.108C>T (p.Asn36=)
NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg) rs1569017174
NM_004975.4(KCNB1):c.1106G>T (p.Trp369Leu)
NM_004975.4(KCNB1):c.1107G>A (p.Trp369Ter) rs2146813797
NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter) rs1984251749
NM_004975.4(KCNB1):c.1112CCA[1] (p.Thr372del)
NM_004975.4(KCNB1):c.1119C>T (p.Ile373=) rs2146813780
NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile) rs587777849
NM_004975.4(KCNB1):c.1123A>G (p.Met375Val) rs1984250919
NM_004975.4(KCNB1):c.1130C>T (p.Thr377Ile) rs1569017148
NM_004975.4(KCNB1):c.1132G>A (p.Val378Ile)
NM_004975.4(KCNB1):c.1133T>G (p.Val378Gly)
NM_004975.4(KCNB1):c.1135G>A (p.Gly379Arg) rs587777850
NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu) rs1984249721
NM_004975.4(KCNB1):c.1136G>T (p.Gly379Val) rs1984249721
NM_004975.4(KCNB1):c.1137G>A (p.Gly379=) rs372561609
NM_004975.4(KCNB1):c.1139A>C (p.Tyr380Ser)
NM_004975.4(KCNB1):c.1139A>G (p.Tyr380Cys) rs1569017123
NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu) rs1569017114
NM_004975.4(KCNB1):c.1143A>T (p.Gly381=) rs1569017109
NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val) rs1984248540
NM_004975.4(KCNB1):c.1146C>T (p.Asp382=)
NM_004975.4(KCNB1):c.1152C>A (p.Tyr384Ter)
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr) rs1060499592
NM_004975.4(KCNB1):c.1161T>C (p.Thr387=) rs1984247753
NM_004975.4(KCNB1):c.1169G>A (p.Gly390Glu) rs2146813695
NM_004975.4(KCNB1):c.1170G>A (p.Gly390=)
NM_004975.4(KCNB1):c.1174A>G (p.Ile392Val)
NM_004975.4(KCNB1):c.117del (p.Leu40fs) rs1601162716
NM_004975.4(KCNB1):c.1181G>A (p.Gly394Glu)
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr) rs1555889084
NM_004975.4(KCNB1):c.1190G>T (p.Cys397Phe) rs1555889084
NM_004975.4(KCNB1):c.1201G>A (p.Gly401Arg) rs1569017045
NM_004975.4(KCNB1):c.1202G>C (p.Gly401Ala)
NM_004975.4(KCNB1):c.1205T>C (p.Val402Ala) rs1984245487
NM_004975.4(KCNB1):c.1206C>G (p.Val402=) rs2146813631
NM_004975.4(KCNB1):c.1210G>A (p.Val404Met) rs1984244898
NM_004975.4(KCNB1):c.1210G>T (p.Val404Leu)
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val) rs1601071099
NM_004975.4(KCNB1):c.1218T>C (p.Ala406=)
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro) rs2146813611
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser) rs1601071085
NM_004975.4(KCNB1):c.1223C>G (p.Pro408Arg) rs2146813607
NM_004975.4(KCNB1):c.1229C>T (p.Pro410Leu) rs2146813598
NM_004975.4(KCNB1):c.122C>T (p.Ala41Val) rs1980525336
NM_004975.4(KCNB1):c.1231A>G (p.Ile411Val)
NM_004975.4(KCNB1):c.1236C>T (p.Ile412=)
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_004975.4(KCNB1):c.1244del (p.Asn415fs)
NM_004975.4(KCNB1):c.1246T>C (p.Phe416Leu) rs1984242860
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu) rs1569017015
NM_004975.4(KCNB1):c.1249T>C (p.Ser417Pro) rs2146813554
NM_004975.4(KCNB1):c.126C>G (p.His42Gln) rs1568658526
NM_004975.4(KCNB1):c.1288A>G (p.Ile430Val)
NM_004975.4(KCNB1):c.1289T>C (p.Ile430Thr)
NM_004975.4(KCNB1):c.1295G>A (p.Arg432Gln)
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004975.4(KCNB1):c.12C>T (p.Gly4=)
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro) rs2146813509
NM_004975.4(KCNB1):c.1338A>T (p.Val446=) rs2146813471
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr) rs1984239884
NM_004975.4(KCNB1):c.1344G>A (p.Met448Ile) rs1984239766
NM_004975.4(KCNB1):c.1345A>G (p.Asn449Asp) rs1984239652
NM_004975.4(KCNB1):c.1347C>T (p.Asn449=)
NM_004975.4(KCNB1):c.1349T>C (p.Met450Thr)
NM_004975.4(KCNB1):c.1350G>A (p.Met450Ile)
NM_004975.4(KCNB1):c.1358C>T (p.Ala453Val) rs2146813430
NM_004975.4(KCNB1):c.1366C>G (p.Arg456Gly) rs368043123
NM_004975.4(KCNB1):c.1385A>C (p.Asp462Ala)
NM_004975.4(KCNB1):c.1393G>A (p.Val465Ile) rs1294696493
NM_004975.4(KCNB1):c.1394T>G (p.Val465Gly) rs2015314520
NM_004975.4(KCNB1):c.1397A>C (p.Glu466Ala) rs2146813382
NM_004975.4(KCNB1):c.1401A>T (p.Lys467Asn)
NM_004975.4(KCNB1):c.1403A>G (p.Asn468Ser)
NM_004975.4(KCNB1):c.1408G>A (p.Glu470Lys)
NM_004975.4(KCNB1):c.1410G>T (p.Glu470Asp)
NM_004975.4(KCNB1):c.1418G>A (p.Gly473Asp)
NM_004975.4(KCNB1):c.1435C>T (p.Gln479Ter)
NM_004975.4(KCNB1):c.1446C>A (p.His482Gln) rs750701951
NM_004975.4(KCNB1):c.1449G>T (p.Leu483Phe)
NM_004975.4(KCNB1):c.1458C>G (p.Asn486Lys) rs1388412501
NM_004975.4(KCNB1):c.1463G>A (p.Trp488Ter) rs1984233764
NM_004975.4(KCNB1):c.1485G>A (p.Leu495=)
NM_004975.4(KCNB1):c.1496G>C (p.Ser499Thr) rs1984232770
NM_004975.4(KCNB1):c.1503dup (p.Lys502Ter) rs2146813259
NM_004975.4(KCNB1):c.1518C>G (p.Thr506=)
NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter) rs1601070652
NM_004975.4(KCNB1):c.1529G>T (p.Gly510Val) rs767889610
NM_004975.4(KCNB1):c.152G>T (p.Arg51Leu) rs2122803715
NM_004975.4(KCNB1):c.1543G>A (p.Ala515Thr)
NM_004975.4(KCNB1):c.1544C>T (p.Ala515Val) rs1159101104
NM_004975.4(KCNB1):c.1545C>T (p.Ala515=) rs2146813194
NM_004975.4(KCNB1):c.1549T>C (p.Ser517Pro) rs2146813186
NM_004975.4(KCNB1):c.154C>T (p.Leu52=)
NM_004975.4(KCNB1):c.1565A>T (p.Gln522Leu)
NM_004975.4(KCNB1):c.1575C>T (p.Asn525=)
NM_004975.4(KCNB1):c.157C>A (p.Pro53Thr)
NM_004975.4(KCNB1):c.1581G>A (p.Gln527=)
NM_004975.4(KCNB1):c.1593C>T (p.Asp531=)
NM_004975.4(KCNB1):c.1594A>G (p.Met532Val) rs1984228484
NM_004975.4(KCNB1):c.1597T>C (p.Tyr533His) rs1984228232
NM_004975.4(KCNB1):c.1617C>T (p.Thr539=) rs2146813087
NM_004975.4(KCNB1):c.1628C>A (p.Pro543His) rs1251785989
NM_004975.4(KCNB1):c.1628C>T (p.Pro543Leu)
NM_004975.4(KCNB1):c.1629C>T (p.Pro543=)
NM_004975.4(KCNB1):c.1641C>T (p.Thr547=) rs1490389656
NM_004975.4(KCNB1):c.1651G>A (p.Ala551Thr)
NM_004975.4(KCNB1):c.1676A>G (p.Glu559Gly)
NM_004975.4(KCNB1):c.1692T>C (p.Ser564=) rs2146812969
NM_004975.4(KCNB1):c.16A>G (p.Thr6Ala)
NM_004975.4(KCNB1):c.1700G>A (p.Ser567Asn)
NM_004975.4(KCNB1):c.1702C>A (p.Pro568Thr)
NM_004975.4(KCNB1):c.1704C>G (p.Pro568=) rs539550218
NM_004975.4(KCNB1):c.1704C>T (p.Pro568=) rs539550218
NM_004975.4(KCNB1):c.1705G>C (p.Val569Leu)
NM_004975.4(KCNB1):c.1723C>G (p.Arg575Gly) rs947355756
NM_004975.4(KCNB1):c.1724G>T (p.Arg575Leu) rs544069848
NM_004975.4(KCNB1):c.1727C>G (p.Thr576Arg) rs1355278265
NM_004975.4(KCNB1):c.1738A>G (p.Ile580Val)
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter) rs781663444
NM_004975.4(KCNB1):c.1748G>A (p.Arg583Gln)
NM_004975.4(KCNB1):c.1748G>C (p.Arg583Pro)
NM_004975.4(KCNB1):c.1769G>A (p.Ser590Asn) rs2146812849
NM_004975.4(KCNB1):c.1787_1788del (p.Thr596fs) rs1984217696
NM_004975.4(KCNB1):c.1800G>A (p.Glu600=) rs1290919811
NM_004975.4(KCNB1):c.1801G>A (p.Ala601Thr)
NM_004975.4(KCNB1):c.1817A>G (p.His606Arg) rs2146812820
NM_004975.4(KCNB1):c.182G>A (p.Arg61His)
NM_004975.4(KCNB1):c.1839C>T (p.Pro613=)
NM_004975.4(KCNB1):c.183C>T (p.Arg61=)
NM_004975.4(KCNB1):c.1841G>A (p.Ser614Asn)
NM_004975.4(KCNB1):c.1843_1862del (p.Lys615fs) rs2146812741
NM_004975.4(KCNB1):c.1847C>T (p.Thr616Ile) rs2229006
NM_004975.4(KCNB1):c.1850G>A (p.Gly617Glu)
NM_004975.4(KCNB1):c.1851G>A (p.Gly617=) rs2146812770
NM_004975.4(KCNB1):c.1853G>A (p.Gly618Asp)
NM_004975.4(KCNB1):c.1853G>T (p.Gly618Val) rs771932289
NM_004975.4(KCNB1):c.1863C>T (p.Ala621=) rs2146812733
NM_004975.4(KCNB1):c.1869A>G (p.Glu623=)
NM_004975.4(KCNB1):c.1874G>A (p.Gly625Asp) rs2146812721
NM_004975.4(KCNB1):c.1879_1880delinsTT (p.Arg627Leu) rs2146812716
NM_004975.4(KCNB1):c.1880G>A (p.Arg627Gln) rs754927664
NM_004975.4(KCNB1):c.1880G>T (p.Arg627Leu) rs754927664
NM_004975.4(KCNB1):c.1883G>A (p.Gly628Glu)
NM_004975.4(KCNB1):c.1891G>A (p.Gly631Ser)
NM_004975.4(KCNB1):c.1891G>T (p.Gly631Cys) rs1433173706
NM_004975.4(KCNB1):c.1896C>T (p.Ala632=) rs1420669551
NM_004975.4(KCNB1):c.1899T>G (p.Ser633Arg)
NM_004975.4(KCNB1):c.1907G>C (p.Arg636Thr) rs2146812675
NM_004975.4(KCNB1):c.1912G>T (p.Val638Leu) rs756972062
NM_004975.4(KCNB1):c.1926C>T (p.Pro642=)
NM_004975.4(KCNB1):c.1935T>C (p.Asp645=)
NM_004975.4(KCNB1):c.1935T>G (p.Asp645Glu) rs763718208
NM_004975.4(KCNB1):c.1940G>A (p.Ser647Asn) rs760648723
NM_004975.4(KCNB1):c.1941C>G (p.Ser647Arg)
NM_004975.4(KCNB1):c.1946A>G (p.His649Arg)
NM_004975.4(KCNB1):c.1951A>G (p.Ser651Gly)
NM_004975.4(KCNB1):c.1971del (p.Lys658fs)
NM_004975.4(KCNB1):c.1973A>G (p.Lys658Arg)
NM_004975.4(KCNB1):c.1981A>G (p.Met661Val) rs1392516083
NM_004975.4(KCNB1):c.1982T>A (p.Met661Lys)
NM_004975.4(KCNB1):c.2008C>T (p.Arg670Ter) rs1984206797
NM_004975.4(KCNB1):c.2011G>T (p.Ala671Ser)
NM_004975.4(KCNB1):c.2028C>G (p.Phe676Leu) rs755628300
NM_004975.4(KCNB1):c.2034G>T (p.Glu678Asp)
NM_004975.4(KCNB1):c.203C>A (p.Ser68Ter)
NM_004975.4(KCNB1):c.2040C>T (p.Asp680=)
NM_004975.4(KCNB1):c.2051T>A (p.Leu684His)
NM_004975.4(KCNB1):c.2063T>C (p.Leu688Pro) rs1601069788
NM_004975.4(KCNB1):c.2067G>T (p.Gly689=)
NM_004975.4(KCNB1):c.2075A>G (p.His692Arg)
NM_004975.4(KCNB1):c.2079C>G (p.Asp693Glu)
NM_004975.4(KCNB1):c.2096G>A (p.Gly699Glu)
NM_004975.4(KCNB1):c.2097G>T (p.Gly699=) rs749718924
NM_004975.4(KCNB1):c.2103T>C (p.Ala701=)
NM_004975.4(KCNB1):c.2105C>A (p.Ala702Glu) rs144379782
NM_004975.4(KCNB1):c.2107G>T (p.Ala703Ser)
NM_004975.4(KCNB1):c.2116G>T (p.Ala706Ser) rs779750227
NM_004975.4(KCNB1):c.2118T>C (p.Ala706=) rs2146812300
NM_004975.4(KCNB1):c.2124G>A (p.Leu708=) rs1207155153
NM_004975.4(KCNB1):c.2128T>A (p.Cys710Ser)
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr)
NM_004975.4(KCNB1):c.2130del (p.Cys710fs)
NM_004975.4(KCNB1):c.2134dup (p.Thr712fs)
NM_004975.4(KCNB1):c.2143G>C (p.Asp715His) rs1601069538
NM_004975.4(KCNB1):c.2151T>C (p.Ala717=) rs2146812219
NM_004975.4(KCNB1):c.2173A>G (p.Ile725Val)
NM_004975.4(KCNB1):c.2197A>T (p.Thr733Ser) rs2146812165
NM_004975.4(KCNB1):c.2200C>A (p.Pro734Thr) rs1214997887
NM_004975.4(KCNB1):c.2201C>G (p.Pro734Arg)
NM_004975.4(KCNB1):c.2201C>T (p.Pro734Leu)
NM_004975.4(KCNB1):c.2202C>A (p.Pro734=)
NM_004975.4(KCNB1):c.2204C>T (p.Pro735Leu) rs1984193843
NM_004975.4(KCNB1):c.2206C>A (p.Arg736=)
NM_004975.4(KCNB1):c.2206C>G (p.Arg736Gly)
NM_004975.4(KCNB1):c.2206C>T (p.Arg736Trp) rs754428005
NM_004975.4(KCNB1):c.2206del (p.Arg736fs) rs759902465
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs)
NM_004975.4(KCNB1):c.2207G>C (p.Arg736Pro) rs151175979
NM_004975.4(KCNB1):c.2234C>T (p.Ala745Val) rs1984191107
NM_004975.4(KCNB1):c.2235G>A (p.Ala745=)
NM_004975.4(KCNB1):c.2238C>T (p.Phe746=)
NM_004975.4(KCNB1):c.2238_2243del (p.Asn747_Phe748del)
NM_004975.4(KCNB1):c.2250G>C (p.Ala750=) rs368736609
NM_004975.4(KCNB1):c.2252G>T (p.Gly751Val) rs1451585001
NM_004975.4(KCNB1):c.2267T>C (p.Ile756Thr) rs1239521037
NM_004975.4(KCNB1):c.2269G>A (p.Asp757Asn)
NM_004975.4(KCNB1):c.2272G>A (p.Ala758Thr) rs774577428
NM_004975.4(KCNB1):c.2272G>T (p.Ala758Ser) rs774577428
NM_004975.4(KCNB1):c.2274A>T (p.Ala758=)
NM_004975.4(KCNB1):c.2279C>A (p.Thr760Lys)
NM_004975.4(KCNB1):c.228C>T (p.Tyr76=)
NM_004975.4(KCNB1):c.2298G>C (p.Leu766=)
NM_004975.4(KCNB1):c.2306G>A (p.Ser769Asn) rs1209493320
NM_004975.4(KCNB1):c.2306G>T (p.Ser769Ile) rs1209493320
NM_004975.4(KCNB1):c.2312A>T (p.Asp771Val) rs1304300872
NM_004975.4(KCNB1):c.2313C>T (p.Asp771=)
NM_004975.4(KCNB1):c.2315C>A (p.Ser772Tyr) rs1445771227
NM_004975.4(KCNB1):c.2319C>T (p.Ser773=)
NM_004975.4(KCNB1):c.2324C>G (p.Pro775Arg) rs530927636
NM_004975.4(KCNB1):c.2324C>T (p.Pro775Leu)
NM_004975.4(KCNB1):c.2325C>G (p.Pro775=) rs778951965
NM_004975.4(KCNB1):c.2325dup (p.Lys776fs)
NM_004975.4(KCNB1):c.2329A>G (p.Ser777Gly) rs1984182896
NM_004975.4(KCNB1):c.2330G>T (p.Ser777Ile)
NM_004975.4(KCNB1):c.2340G>A (p.Gly780=) rs1410171749
NM_004975.4(KCNB1):c.2345C>G (p.Thr782Ser) rs751639377
NM_004975.4(KCNB1):c.235G>A (p.Asp79Asn)
NM_004975.4(KCNB1):c.2363C>T (p.Thr788Met) rs140932985
NM_004975.4(KCNB1):c.2366G>A (p.Gly789Glu)
NM_004975.4(KCNB1):c.2369C>T (p.Thr790Ile)
NM_004975.4(KCNB1):c.2370A>G (p.Thr790=) rs1411571280
NM_004975.4(KCNB1):c.2392G>C (p.Glu798Gln) rs1131691752
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn) rs1256695300
NM_004975.4(KCNB1):c.239A>G (p.Asp80Gly)
NM_004975.4(KCNB1):c.2412C>A (p.Thr804=) rs1984177695
NM_004975.4(KCNB1):c.2415C>T (p.Ser805=) rs2146811802
NM_004975.4(KCNB1):c.2416C>T (p.Pro806Ser) rs1471856482
NM_004975.4(KCNB1):c.2417C>T (p.Pro806Leu) rs1249019020
NM_004975.4(KCNB1):c.242A>T (p.Asn81Ile) rs2122803550
NM_004975.4(KCNB1):c.243C>T (p.Asn81=) rs1295557969
NM_004975.4(KCNB1):c.2447C>A (p.Ser816Tyr)
NM_004975.4(KCNB1):c.244G>A (p.Glu82Lys)
NM_004975.4(KCNB1):c.2455G>A (p.Ala819Thr) rs373423740
NM_004975.4(KCNB1):c.2455G>T (p.Ala819Ser)
NM_004975.4(KCNB1):c.2460G>T (p.Leu820Phe) rs1984174923
NM_004975.4(KCNB1):c.2461A>T (p.Thr821Ser)
NM_004975.4(KCNB1):c.2468A>G (p.Lys823Arg) rs2146811699
NM_004975.4(KCNB1):c.2472_2473delinsTT (p.Pro825Ser) rs2146811676
NM_004975.4(KCNB1):c.2473C>G (p.Pro825Ala)
NM_004975.4(KCNB1):c.2474C>T (p.Pro825Leu) rs1744051695
NM_004975.4(KCNB1):c.2491T>C (p.Cys831Arg)
NM_004975.4(KCNB1):c.2512T>C (p.Ser838Pro) rs1984172893
NM_004975.4(KCNB1):c.2515C>A (p.Pro839Thr) rs1984172647
NM_004975.4(KCNB1):c.2515C>T (p.Pro839Ser) rs1984172647
NM_004975.4(KCNB1):c.2529G>A (p.Val843=) rs1233867057
NM_004975.4(KCNB1):c.2538G>A (p.Gly846=)
NM_004975.4(KCNB1):c.2540G>A (p.Gly847Glu)
NM_004975.4(KCNB1):c.2540G>C (p.Gly847Ala)
NM_004975.4(KCNB1):c.2546C>A (p.Ala849Asp)
NM_004975.4(KCNB1):c.2553A>G (p.Gly851=)
NM_004975.4(KCNB1):c.2556C>T (p.Ser852=) rs2146811529
NM_004975.4(KCNB1):c.2560C>T (p.Arg854Ter) rs780416138
NM_004975.4(KCNB1):c.2572A>G (p.Ile858Val)
NM_004975.4(KCNB1):c.264C>T (p.His88=)
NM_004975.4(KCNB1):c.267G>A (p.Pro89=)
NM_004975.4(KCNB1):c.270C>A (p.Gly90=)
NM_004975.4(KCNB1):c.270C>T (p.Gly90=)
NM_004975.4(KCNB1):c.28T>C (p.Ser10Pro)
NM_004975.4(KCNB1):c.298C>T (p.Arg100Cys)
NM_004975.4(KCNB1):c.307C>T (p.Arg103Ter) rs1601162563
NM_004975.4(KCNB1):c.315C>T (p.His105=) rs775196693
NM_004975.4(KCNB1):c.31C>A (p.Arg11Ser)
NM_004975.4(KCNB1):c.31C>T (p.Arg11Cys)
NM_004975.4(KCNB1):c.32G>T (p.Arg11Leu)
NM_004975.4(KCNB1):c.336G>A (p.Ala112=)
NM_004975.4(KCNB1):c.336G>T (p.Ala112=)
NM_004975.4(KCNB1):c.33C>A (p.Arg11=) rs943931190
NM_004975.4(KCNB1):c.357C>G (p.Leu119=) rs773968834
NM_004975.4(KCNB1):c.357C>T (p.Leu119=) rs773968834
NM_004975.4(KCNB1):c.368del (p.Gly123fs)
NM_004975.4(KCNB1):c.372C>T (p.Ile124=) rs147498424
NM_004975.4(KCNB1):c.407G>A (p.Arg136His) rs1980515306
NM_004975.4(KCNB1):c.426G>A (p.Glu142=) rs1440280154
NM_004975.4(KCNB1):c.432G>A (p.Met144Ile) rs1179147119
NM_004975.4(KCNB1):c.435C>G (p.Asn145Lys)
NM_004975.4(KCNB1):c.441G>T (p.Glu147Asp)
NM_004975.4(KCNB1):c.456C>G (p.Ala152=)
NM_004975.4(KCNB1):c.45G>C (p.Ser15=) rs1980529873
NM_004975.4(KCNB1):c.461C>T (p.Thr154Ile) rs1980513297
NM_004975.4(KCNB1):c.466C>A (p.Arg156=)
NM_004975.4(KCNB1):c.466C>G (p.Arg156Gly)
NM_004975.4(KCNB1):c.471G>T (p.Glu157Asp) rs144926751
NM_004975.4(KCNB1):c.472C>A (p.Arg158=) rs1278790809
NM_004975.4(KCNB1):c.474G>C (p.Arg158=)
NM_004975.4(KCNB1):c.477A>G (p.Glu159=) rs984041865
NM_004975.4(KCNB1):c.489C>T (p.Phe163=) rs767078520
NM_004975.4(KCNB1):c.495C>A (p.Asn165Lys) rs1239466410
NM_004975.4(KCNB1):c.505G>A (p.Ala169Thr)
NM_004975.4(KCNB1):c.525_526del (p.Trp176fs)
NM_004975.4(KCNB1):c.536T>C (p.Leu179Pro) rs2122803080
NM_004975.4(KCNB1):c.537G>T (p.Leu179=)
NM_004975.4(KCNB1):c.553T>C (p.Ser185Pro)
NM_004975.4(KCNB1):c.567+12A>T rs2122803009
NM_004975.4(KCNB1):c.567+8T>G
NM_004975.4(KCNB1):c.567G>A (p.Lys189=) rs1980508600
NM_004975.4(KCNB1):c.568-10C>T rs1601072100
NM_004975.4(KCNB1):c.568-12T>G rs1984280025
NM_004975.4(KCNB1):c.578T>A (p.Ile193Lys) rs1555889171
NM_004975.4(KCNB1):c.587T>A (p.Ile196Asn)
NM_004975.4(KCNB1):c.587T>G (p.Ile196Ser)
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe) rs1601072041
NM_004975.4(KCNB1):c.5C>A (p.Pro2Gln)
NM_004975.4(KCNB1):c.5C>G (p.Pro2Arg) rs1279418021
NM_004975.4(KCNB1):c.603C>T (p.Leu201=)
NM_004975.4(KCNB1):c.605C>T (p.Ser202Phe) rs1060499607
NM_004975.4(KCNB1):c.606C>T (p.Ser202=) rs2146814354
NM_004975.4(KCNB1):c.607A>T (p.Thr203Ser)
NM_004975.4(KCNB1):c.615C>T (p.Ala205=) rs1601072012
NM_004975.4(KCNB1):c.61A>T (p.Met21Leu)
NM_004975.4(KCNB1):c.623T>G (p.Leu208Arg)
NM_004975.4(KCNB1):c.627C>A (p.Asn209Lys) rs1984276555
NM_004975.4(KCNB1):c.628A>G (p.Thr210Ala) rs2146814335
NM_004975.4(KCNB1):c.629C>A (p.Thr210Lys) rs1555889162
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.62T>C (p.Met21Thr)
NM_004975.4(KCNB1):c.635C>T (p.Pro212Leu) rs2146814318
NM_004975.4(KCNB1):c.648C>T (p.Ser216=)
NM_004975.4(KCNB1):c.651C>G (p.Leu217=)
NM_004975.4(KCNB1):c.654T>G (p.Asp218Glu) rs2146814301
NM_004975.4(KCNB1):c.661G>A (p.Gly221Ser) rs1984274983
NM_004975.4(KCNB1):c.666G>A (p.Gln222=)
NM_004975.4(KCNB1):c.66G>A (p.Glu22=) rs745635029
NM_004975.4(KCNB1):c.676_685del (p.Asn226fs) rs2146814263
NM_004975.4(KCNB1):c.682C>T (p.Gln228Ter)
NM_004975.4(KCNB1):c.6G>A (p.Pro2=)
NM_004975.4(KCNB1):c.702C>G (p.Ala234=) rs753634361
NM_004975.4(KCNB1):c.709A>T (p.Ile237Phe) rs2146814233
NM_004975.4(KCNB1):c.70G>A (p.Val24Met) rs778774389
NM_004975.4(KCNB1):c.70G>T (p.Val24Leu)
NM_004975.4(KCNB1):c.712G>T (p.Ala238Ser)
NM_004975.4(KCNB1):c.718T>A (p.Phe240Ile) rs2146814213
NM_004975.4(KCNB1):c.725T>C (p.Met242Thr)
NM_004975.4(KCNB1):c.729G>A (p.Glu243=) rs2146814204
NM_004975.4(KCNB1):c.72G>A (p.Val24=)
NM_004975.4(KCNB1):c.732C>T (p.Tyr244=)
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg) rs1601071839
NM_004975.4(KCNB1):c.73C>A (p.Arg25Ser)
NM_004975.4(KCNB1):c.740G>A (p.Arg247Lys) rs1984270863
NM_004975.4(KCNB1):c.750C>T (p.Ser250=) rs2146814173
NM_004975.4(KCNB1):c.752C>T (p.Ser251Leu) rs1984270019
NM_004975.4(KCNB1):c.753G>A (p.Ser251=)
NM_004975.4(KCNB1):c.754C>T (p.Pro252Ser) rs1984269566
NM_004975.4(KCNB1):c.788A>G (p.Asn263Ser) rs2146814130
NM_004975.4(KCNB1):c.789T>C (p.Asn263=)
NM_004975.4(KCNB1):c.78C>T (p.Ser26=) rs1194383095
NM_004975.4(KCNB1):c.790G>A (p.Ala264Thr)
NM_004975.4(KCNB1):c.799TTG[1] (p.Leu268del)
NM_004975.4(KCNB1):c.7G>A (p.Ala3Thr)
NM_004975.4(KCNB1):c.812T>C (p.Leu271Pro) rs1569017375
NM_004975.4(KCNB1):c.813G>A (p.Leu271=) rs763166574
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser) rs1601071747
NM_004975.4(KCNB1):c.816A>G (p.Pro272=)
NM_004975.4(KCNB1):c.817T>C (p.Tyr273His)
NM_004975.4(KCNB1):c.819C>T (p.Tyr273=) rs2146814097
NM_004975.4(KCNB1):c.822T>C (p.Tyr274=)
NM_004975.4(KCNB1):c.82G>A (p.Ala28Thr)
NM_004975.4(KCNB1):c.831T>C (p.Ile277=)
NM_004975.4(KCNB1):c.83C>T (p.Ala28Val) rs769852170
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys) rs1601071708
NM_004975.4(KCNB1):c.863_873delinsG (p.Gln288fs) rs1601071660
NM_004975.4(KCNB1):c.864A>G (p.Gln288=) rs2146814058
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.878G>A (p.Arg293His)
NM_004975.4(KCNB1):c.890A>G (p.Gln297Arg) rs749981323
NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys) rs202170806
NM_004975.4(KCNB1):c.907C>T (p.Arg303Ter) rs1391326211
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln) rs1057518621
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004975.4(KCNB1):c.917G>A (p.Arg306His) rs1984262011
NM_004975.4(KCNB1):c.919A>G (p.Ile307Val) rs1984261678
NM_004975.4(KCNB1):c.91C>T (p.Arg31Trp)
NM_004975.4(KCNB1):c.926A>G (p.Lys309Arg)
NM_004975.4(KCNB1):c.92G>C (p.Arg31Pro) rs2122803896
NM_004975.4(KCNB1):c.931G>A (p.Ala311Thr) rs2146813980
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_004975.4(KCNB1):c.935G>A (p.Arg312His) rs1555889127
NM_004975.4(KCNB1):c.935G>C (p.Arg312Pro)
NM_004975.4(KCNB1):c.937C>A (p.His313Asn)
NM_004975.4(KCNB1):c.939C>T (p.His313=) rs1304387636
NM_004975.4(KCNB1):c.947G>T (p.Gly316Val)
NM_004975.4(KCNB1):c.949C>T (p.Leu317Phe)
NM_004975.4(KCNB1):c.950T>C (p.Leu317Pro)
NM_004975.4(KCNB1):c.956C>A (p.Ser319Tyr) rs1984259606
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe) rs1984259606
NM_004975.4(KCNB1):c.959T>C (p.Leu320Pro) rs2146813954
NM_004975.4(KCNB1):c.95G>C (p.Arg32Pro)
NM_004975.4(KCNB1):c.961G>A (p.Gly321Ser) rs2146813951
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp) rs1276378675
NM_004975.4(KCNB1):c.975GAG[3] (p.Arg326_Ser327insArg)
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_004975.4(KCNB1):c.988G>C (p.Glu330Gln)
NM_004975.4(KCNB1):c.990G>A (p.Glu330=) rs1131691489
NM_004975.4(KCNB1):c.995G>A (p.Gly332Asp)
NM_004975.4(KCNB1):c.996C>T (p.Gly332=)
NM_007254.4(PNKP):c.1001C>T (p.Ala334Val) rs571217111
NM_007254.4(PNKP):c.1003_1016del (p.Gly335fs) rs1131691883
NM_007254.4(PNKP):c.1006T>G (p.Phe336Val) rs747297456
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>G
NM_007254.4(PNKP):c.1029+19G>A
NM_007254.4(PNKP):c.1029+20G>C rs1239545577
NM_007254.4(PNKP):c.1029+3G>A rs1304920403
NM_007254.4(PNKP):c.1029G>A (p.Pro343=) rs796052853
NM_007254.4(PNKP):c.1030-12C>A
NM_007254.4(PNKP):c.1030-12C>G
NM_007254.4(PNKP):c.1030-12del rs1398388252
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.1030-22_1041dup rs2122325507
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.1043G>A (p.Arg348His) rs781551273
NM_007254.4(PNKP):c.1044C>G (p.Arg348=) rs932293072
NM_007254.4(PNKP):c.1044_1065dup (p.Glu356fs) rs2074777487
NM_007254.4(PNKP):c.1047A>T (p.Ser349=)
NM_007254.4(PNKP):c.1049G>A (p.Gly350Glu) rs2122325421
NM_007254.4(PNKP):c.1050G>T (p.Gly350=) rs1194208521
NM_007254.4(PNKP):c.1059C>A (p.Cys353Ter) rs1337771339
NM_007254.4(PNKP):c.1065C>G (p.Pro355=)
NM_007254.4(PNKP):c.1065C>T (p.Pro355=) rs569834947
NM_007254.4(PNKP):c.1065_1081del (p.Ser357fs) rs1366190965
NM_007254.4(PNKP):c.1065del (p.Glu356fs)
NM_007254.4(PNKP):c.1066G>A (p.Glu356Lys) rs1170743406
NM_007254.4(PNKP):c.1069T>C (p.Ser357Pro)
NM_007254.4(PNKP):c.1070C>T (p.Ser357Phe) rs1359253510
NM_007254.4(PNKP):c.1073G>A (p.Arg358Lys) rs1600417301
NM_007254.4(PNKP):c.1074_1085del (p.Arg358_Leu361del) rs796052865
NM_007254.4(PNKP):c.107G>A (p.Gly36Glu) rs756589726
NM_007254.4(PNKP):c.107G>C (p.Gly36Ala) rs756589726
NM_007254.4(PNKP):c.107G>T (p.Gly36Val) rs756589726
NM_007254.4(PNKP):c.1091G>A (p.Ser364Asn) rs1473117442
NM_007254.4(PNKP):c.1098G>C (p.Glu366Asp) rs755340060
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+15C>T rs748643212
NM_007254.4(PNKP):c.1126+16C>T
NM_007254.4(PNKP):c.1126+1G>C
NM_007254.4(PNKP):c.1126+1del
NM_007254.4(PNKP):c.1126+4A>G rs2122324733
NM_007254.4(PNKP):c.1126+5G>C rs1385764453
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.1127-20C>T
NM_007254.4(PNKP):c.1127-3C>T
NM_007254.4(PNKP):c.1127-7C>A
NM_007254.4(PNKP):c.1127-7dup rs757518270
NM_007254.4(PNKP):c.1127-9C>A
NM_007254.4(PNKP):c.1128C>T (p.Ala376=)
NM_007254.4(PNKP):c.112del (p.Pro37_Leu38insTer)
NM_007254.4(PNKP):c.1134G>A (p.Lys378=)
NM_007254.4(PNKP):c.113del (p.Leu38fs)
NM_007254.4(PNKP):c.1144C>G (p.Leu382Val) rs754921430
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.1165G>A (p.Ala389Thr) rs575803996
NM_007254.4(PNKP):c.1165G>T (p.Ala389Ser) rs575803996
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+5G>A
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.1189-22_1189-19del rs368832563
NM_007254.4(PNKP):c.1189-46_1189-10del
NM_007254.4(PNKP):c.1189-5C>A rs752826211
NM_007254.4(PNKP):c.1203_1291del (p.Trp402fs) rs1568659036
NM_007254.4(PNKP):c.1206G>A (p.Trp402Ter)
NM_007254.4(PNKP):c.1215T>C (p.Cys405=) rs2122321900
NM_007254.4(PNKP):c.1218G>C (p.Val406=)
NM_007254.4(PNKP):c.121G>C (p.Val41Leu) rs2074826079
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.1223C>A (p.Thr408Lys) rs774130130
NM_007254.4(PNKP):c.1226G>T (p.Cys409Phe) rs2074769803
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.124A>G (p.Thr42Ala) rs2074826042
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1258G>A (p.Ala420Thr) rs754981151
NM_007254.4(PNKP):c.1263C>A (p.Ile421=) rs758836805
NM_007254.4(PNKP):c.1263C>G (p.Ile421Met)
NM_007254.4(PNKP):c.1263C>T (p.Ile421=) rs758836805
NM_007254.4(PNKP):c.1264G>C (p.Asp422His)
NM_007254.4(PNKP):c.1264_1271del (p.Asp422fs)
NM_007254.4(PNKP):c.1265_1289dup (p.Ser430fs)
NM_007254.4(PNKP):c.126G>A (p.Thr42=)
NM_007254.4(PNKP):c.126G>C (p.Thr42=)
NM_007254.4(PNKP):c.1270_1281dup (p.Thr424_Asp427dup) rs1258095629
NM_007254.4(PNKP):c.1270_1283dup (p.Ala429fs) rs746413622
NM_007254.4(PNKP):c.1276C>G (p.Pro426Ala)
NM_007254.4(PNKP):c.1278_1291del (p.Asp427fs) rs764379536
NM_007254.4(PNKP):c.1282G>T (p.Ala428Ser) rs1568659088
NM_007254.4(PNKP):c.1283_1296del (p.Ala428fs)
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.1285G>T (p.Ala429Ser) rs148386689
NM_007254.4(PNKP):c.1285_1286delinsCT (p.Ala429Leu) rs1568659063
NM_007254.4(PNKP):c.1286C>A (p.Ala429Glu) rs769707108
NM_007254.4(PNKP):c.1286_1298+6dup rs760249644
NM_007254.4(PNKP):c.1288_1294del (p.Ser430fs) rs796052860
NM_007254.4(PNKP):c.1288_1294dup (p.Ala432fs) rs796052860
NM_007254.4(PNKP):c.1288_1298+6dup rs1555810844
NM_007254.4(PNKP):c.1289G>A (p.Ser430Asn)
NM_007254.4(PNKP):c.1290_1298+6dup
NM_007254.4(PNKP):c.1291_1298+5dup rs1568658937
NM_007254.4(PNKP):c.1293C>A (p.Arg431=) rs143390809
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007254.4(PNKP):c.1295_1298+6dup
NM_007254.4(PNKP):c.1296C>G (p.Ala432=)
NM_007254.4(PNKP):c.1296_1297insCCC (p.Ala432_Arg433insPro)
NM_007254.4(PNKP):c.1296_1298+13del
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+16_1298+17insCGCGGGTCA
NM_007254.4(PNKP):c.1298+18C>T rs964341783
NM_007254.4(PNKP):c.1298+19dup rs1298736755
NM_007254.4(PNKP):c.1298+1G>A rs149614720
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.1299-1G>A
NM_007254.4(PNKP):c.1299-2A>G rs2122319491
NM_007254.4(PNKP):c.1299-9C>A rs1055654261
NM_007254.4(PNKP):c.1299-9_1299-8delinsTT rs1064794370
NM_007254.4(PNKP):c.1303_1305del (p.Val435del) rs2074764505
NM_007254.4(PNKP):c.1304T>C (p.Val435Ala)
NM_007254.4(PNKP):c.1305C>G (p.Val435=)
NM_007254.4(PNKP):c.1311T>A (p.Cys437Ter) rs1309576866
NM_007254.4(PNKP):c.1314_1315del (p.Arg439fs)
NM_007254.4(PNKP):c.1314_1322dup (p.Arg439_Ala441dup) rs2122319196
NM_007254.4(PNKP):c.1315C>G (p.Arg439Gly) rs539286945
NM_007254.4(PNKP):c.1316_1317delinsTT (p.Arg439Leu) rs2074764098
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) rs796052862
NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly) rs377688490
NM_007254.4(PNKP):c.131G>A (p.Arg44Gln) rs1568663138
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.1321G>A (p.Ala441Thr) rs1351594110
NM_007254.4(PNKP):c.1322C>T (p.Ala441Val) rs549000007
NM_007254.4(PNKP):c.1323G>T (p.Ala441=)
NM_007254.4(PNKP):c.1325G>A (p.Gly442Asp) rs1360064159
NM_007254.4(PNKP):c.1326C>T (p.Gly442=) rs1159488769
NM_007254.4(PNKP):c.1327G>T (p.Val443Phe) rs1421167718
NM_007254.4(PNKP):c.1332C>G (p.Pro444=)
NM_007254.4(PNKP):c.1332C>T (p.Pro444=) rs1354256517
NM_007254.4(PNKP):c.1333del (p.Cys445fs)
NM_007254.4(PNKP):c.1336C>T (p.Arg446Cys) rs1271713057
NM_007254.4(PNKP):c.1337_1342del (p.Arg446_Phe448delinsLeu) rs2122318958
NM_007254.4(PNKP):c.1338C>G (p.Arg446=) rs1487681927
NM_007254.4(PNKP):c.1358C>A (p.Thr453Asn) rs1455514180
NM_007254.4(PNKP):c.135G>A (p.Lys45=)
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1360C>G (p.Leu454Val) rs200611702
NM_007254.4(PNKP):c.1360C>T (p.Leu454=)
NM_007254.4(PNKP):c.1363G>A (p.Glu455Lys) rs2122318761
NM_007254.4(PNKP):c.1367A>G (p.Gln456Arg)
NM_007254.4(PNKP):c.1371G>A (p.Ala457=) rs1477817574
NM_007254.4(PNKP):c.1378AAC[1] (p.Asn461del) rs796052863
NM_007254.4(PNKP):c.1381A>C (p.Asn461His) rs775762473
NM_007254.4(PNKP):c.1381A>G (p.Asn461Asp) rs775762473
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1386+15C>T
NM_007254.4(PNKP):c.1386+19G>A
NM_007254.4(PNKP):c.1386+1G>C rs1057520630
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+49_1387-33del rs752902474
NM_007254.4(PNKP):c.1386+8C>T rs2074762037
NM_007254.4(PNKP):c.1386+9G>T
NM_007254.4(PNKP):c.1387-14G>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.1387-3C>A rs1470343514
NM_007254.4(PNKP):c.1387-3C>T
NM_007254.4(PNKP):c.1387-3_1387-2del rs760066611
NM_007254.4(PNKP):c.1387-43C>T
NM_007254.4(PNKP):c.1387-47del
NM_007254.4(PNKP):c.1387-48del rs770848795
NM_007254.4(PNKP):c.1387-48dup rs770848795
NM_007254.4(PNKP):c.1387-5del rs1238643725
NM_007254.4(PNKP):c.1387-5dup rs1238643725
NM_007254.4(PNKP):c.1387-7C>T rs1060504642
NM_007254.4(PNKP):c.1390C>T (p.Arg464Ter) rs138249970
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro) rs377619541
NM_007254.4(PNKP):c.1391G>T (p.Arg464Leu)
NM_007254.4(PNKP):c.1395G>A (p.Glu465=)
NM_007254.4(PNKP):c.1395_1396del (p.Glu465fs) rs1413085852
NM_007254.4(PNKP):c.1395_1399dup (p.Thr467delinsArgTer) rs1443873131
NM_007254.4(PNKP):c.1400C>A (p.Thr467Lys) rs769109631
NM_007254.4(PNKP):c.1402G>A (p.Asp468Asn) rs778647353
NM_007254.4(PNKP):c.1403_1406dup (p.Ser470fs)
NM_007254.4(PNKP):c.1409C>G (p.Ser470Cys)
NM_007254.4(PNKP):c.1409C>T (p.Ser470Phe) rs1231560062
NM_007254.4(PNKP):c.1412A>C (p.His471Pro) rs142032281
NM_007254.4(PNKP):c.1422G>A (p.Val474=) rs1017330396
NM_007254.4(PNKP):c.1422G>C (p.Val474=)
NM_007254.4(PNKP):c.1422_1423del (p.Ser475fs) rs2074757362
NM_007254.4(PNKP):c.1424C>T (p.Ser475Leu) rs1600414629
NM_007254.4(PNKP):c.1428C>T (p.Asp476=)
NM_007254.4(PNKP):c.1435A>G (p.Met479Val) rs1264163330
NM_007254.4(PNKP):c.1436T>C (p.Met479Thr)
NM_007254.4(PNKP):c.1440T>G (p.Tyr480Ter) rs2074756863
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+2T>A rs1600414549
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.1459G>A (p.Glu487Lys)
NM_007254.4(PNKP):c.1464C>T (p.Ala488=)
NM_007254.4(PNKP):c.1469C>T (p.Thr490Met) rs2122316177
NM_007254.4(PNKP):c.1480G>A (p.Gly494Ser)
NM_007254.4(PNKP):c.1480G>T (p.Gly494Cys) rs753976364
NM_007254.4(PNKP):c.1481_1500dup (p.Ile501fs)
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>G (p.Ile498Met) rs368390840
NM_007254.4(PNKP):c.1494C>T (p.Ile498=) rs368390840
NM_007254.4(PNKP):c.1497G>T (p.Leu499=)
NM_007254.4(PNKP):c.1499A>G (p.Glu500Gly) rs2074753789
NM_007254.4(PNKP):c.1500G>A (p.Glu500=) rs1381051164
NM_007254.4(PNKP):c.1503C>G (p.Ile501Met) rs1293393287
NM_007254.4(PNKP):c.1505C>T (p.Pro502Leu) rs776190168
NM_007254.4(PNKP):c.151+10G>T rs752454809
NM_007254.4(PNKP):c.151+6C>A
NM_007254.4(PNKP):c.151+9G>A rs1334243225
NM_007254.4(PNKP):c.1510C>A (p.Arg504=) rs148669160
NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly) rs148669160
NM_007254.4(PNKP):c.1510C>T (p.Arg504Trp) rs148669160
NM_007254.4(PNKP):c.1510del (p.Arg504fs) rs771489173
NM_007254.4(PNKP):c.1512G>C (p.Arg504=) rs2074753438
NM_007254.4(PNKP):c.1512G>T (p.Arg504=)
NM_007254.4(PNKP):c.1516T>C (p.Trp506Arg) rs2074753341
NM_007254.4(PNKP):c.1518G>C (p.Trp506Cys) rs2122315682
NM_007254.4(PNKP):c.152-13C>T
NM_007254.4(PNKP):c.152-17A>C
NM_007254.4(PNKP):c.152-2A>C
NM_007254.4(PNKP):c.1521G>A (p.Val507=) rs2122315651
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.1534G>A (p.Gly512Arg)
NM_007254.4(PNKP):c.1534G>C (p.Gly512Arg) rs2074752931
NM_007254.4(PNKP):c.1535G>C (p.Gly512Ala)
NM_007254.4(PNKP):c.1536G>A (p.Gly512=) rs766717633
NM_007254.4(PNKP):c.1539G>A (p.Arg513=) rs776243333
NM_007254.4(PNKP):c.153G>A (p.Val51=) rs2074821167
NM_007254.4(PNKP):c.1541_1548dup (p.Gln517fs) rs1279136929
NM_007254.4(PNKP):c.1543dup (p.Tyr515fs) rs2122315348
NM_007254.4(PNKP):c.1545C>T (p.Tyr515=) rs760131892
NM_007254.4(PNKP):c.1548C>G (p.Cys516Trp) rs745579629
NM_007254.4(PNKP):c.1550A>T (p.Gln517Leu)
NM_007254.4(PNKP):c.1552T>C (p.Phe518Leu) rs979727253
NM_007254.4(PNKP):c.1553T>A (p.Phe518Tyr)
NM_007254.4(PNKP):c.1557C>G (p.Ser519=) rs142180374
NM_007254.4(PNKP):c.1558G>A (p.Glu520Lys) rs770823063
NM_007254.4(PNKP):c.1560G>A (p.Glu520=)
NM_007254.4(PNKP):c.1566A>G (p.Ter522Trp) rs2122315087
NM_007254.4(PNKP):c.15G>A (p.Glu5=)
NM_007254.4(PNKP):c.161T>A (p.Val54Asp) rs2074821139
NM_007254.4(PNKP):c.176C>T (p.Thr59Ile)
NM_007254.4(PNKP):c.178C>T (p.Arg60Trp) rs761948305
NM_007254.4(PNKP):c.191T>G (p.Val64Gly) rs1600422789
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.199-2A>G rs1391913873
NM_007254.4(PNKP):c.199-8_199-5del rs751037387
NM_007254.4(PNKP):c.200T>G (p.Leu67Arg) rs747002499
NM_007254.4(PNKP):c.222C>T (p.Thr74=)
NM_007254.4(PNKP):c.224G>T (p.Gly75Val) rs2074810870
NM_007254.4(PNKP):c.227C>T (p.Thr76Ile) rs1600421787
NM_007254.4(PNKP):c.234G>A (p.Glu78=) rs2122339283
NM_007254.4(PNKP):c.241C>T (p.Pro81Ser) rs1231251848
NM_007254.4(PNKP):c.251A>C (p.Glu84Ala) rs2074810716
NM_007254.4(PNKP):c.258T>C (p.Ser86=) rs375826483
NM_007254.4(PNKP):c.266T>C (p.Val89Ala)
NM_007254.4(PNKP):c.26_27delinsTT (p.Arg9Leu) rs2074827288
NM_007254.4(PNKP):c.270G>A (p.Gly90=)
NM_007254.4(PNKP):c.277C>G (p.Leu93Val)
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.298dup (p.His100fs)
NM_007254.4(PNKP):c.300C>T (p.His100=)
NM_007254.4(PNKP):c.30G>T (p.Leu10Phe) rs376146751
NM_007254.4(PNKP):c.314G>T (p.Arg105Leu)
NM_007254.4(PNKP):c.321A>G (p.Glu107=) rs2122338975
NM_007254.4(PNKP):c.322G>A (p.Glu108Lys)
NM_007254.4(PNKP):c.325A>T (p.Thr109Ser) rs979192418
NM_007254.4(PNKP):c.331A>G (p.Thr111Ala) rs1239561285
NM_007254.4(PNKP):c.331A>T (p.Thr111Ser) rs1239561285
NM_007254.4(PNKP):c.332C>T (p.Thr111Ile) rs756223253
NM_007254.4(PNKP):c.336A>G (p.Pro112=) rs2122338877
NM_007254.4(PNKP):c.33G>T (p.Trp11Cys) rs577282123
NM_007254.4(PNKP):c.349G>C (p.Asp117His)
NM_007254.4(PNKP):c.357G>C (p.Pro119=) rs766826936
NM_007254.4(PNKP):c.357G>T (p.Pro119=)
NM_007254.4(PNKP):c.365C>T (p.Thr122Ile)
NM_007254.4(PNKP):c.368C>A (p.Pro123His)
NM_007254.4(PNKP):c.36C>G (p.Leu12=) rs1197600061
NM_007254.4(PNKP):c.36del (p.Glu13fs)
NM_007254.4(PNKP):c.374T>C (p.Val125Ala)
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.386AGA[1] (p.Lys130del)
NM_007254.4(PNKP):c.394G>C (p.Asp132His) rs1555811583
NM_007254.4(PNKP):c.394_395del (p.Asp132fs)
NM_007254.4(PNKP):c.406C>G (p.Pro136Ala) rs759530456
NM_007254.4(PNKP):c.407C>G (p.Pro136Arg)
NM_007254.4(PNKP):c.407_421dup (p.Pro136_Met140dup) rs2074809327
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.417T>A (p.Arg139=) rs1060504643
NM_007254.4(PNKP):c.41G>A (p.Ser14Asn) rs749769775
NM_007254.4(PNKP):c.421C>T (p.Arg141Trp) rs755037999
NM_007254.4(PNKP):c.429A>C (p.Ser143=)
NM_007254.4(PNKP):c.42C>A (p.Ser14Arg) rs751327913
NM_007254.4(PNKP):c.42C>T (p.Ser14=) rs751327913
NM_007254.4(PNKP):c.430A>G (p.Asn144Asp) rs551774481
NM_007254.4(PNKP):c.432C>A (p.Asn144Lys) rs367883177
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.446A>G (p.Asn149Ser)
NM_007254.4(PNKP):c.460C>T (p.Leu154=) rs933383603
NM_007254.4(PNKP):c.469A>G (p.Thr157Ala) rs376383779
NM_007254.4(PNKP):c.47C>T (p.Pro16Leu)
NM_007254.4(PNKP):c.47del (p.Pro16fs) rs1246416070
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.496A>C (p.Lys166Gln) rs2074808568
NM_007254.4(PNKP):c.498+14C>T
NM_007254.4(PNKP):c.498+3G>T rs2074808518
NM_007254.4(PNKP):c.498G>T (p.Lys166Asn) rs141251138
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.513T>G (p.Asp171Glu) rs929865929
NM_007254.4(PNKP):c.51G>A (p.Gly17=)
NM_007254.4(PNKP):c.524C>T (p.Thr175Met) rs2074802994
NM_007254.4(PNKP):c.527T>C (p.Leu176Pro)
NM_007254.4(PNKP):c.528C>T (p.Leu176=)
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.538C>T (p.Arg180Cys) rs3739185
NM_007254.4(PNKP):c.539G>A (p.Arg180His) rs779492301
NM_007254.4(PNKP):c.539G>C (p.Arg180Pro) rs779492301
NM_007254.4(PNKP):c.544G>A (p.Gly182Arg) rs2074802768
NM_007254.4(PNKP):c.54A>G (p.Gly18=)
NM_007254.4(PNKP):c.576G>C (p.Trp192Cys)
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.580A>C (p.Ile194Leu) rs1600420665
NM_007254.4(PNKP):c.582C>T (p.Ile194=)
NM_007254.4(PNKP):c.584T>C (p.Leu195Ser)
NM_007254.4(PNKP):c.587A>T (p.Tyr196Phe) rs138931842
NM_007254.4(PNKP):c.589C>A (p.Pro197Thr) rs201968000
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr) rs3739168
NM_007254.4(PNKP):c.591A>G (p.Pro197=)
NM_007254.4(PNKP):c.593A>C (p.Glu198Ala)
NM_007254.4(PNKP):c.598C>A (p.Pro200Thr) rs1555811465
NM_007254.4(PNKP):c.606G>A (p.Lys202=) rs767378244
NM_007254.4(PNKP):c.609C>G (p.Leu203=)
NM_007254.4(PNKP):c.610C>G (p.Arg204Gly)
NM_007254.4(PNKP):c.612A>G (p.Arg204=) rs1207529903
NM_007254.4(PNKP):c.61C>T (p.Pro21Ser)
NM_007254.4(PNKP):c.622G>C (p.Ala208Pro)
NM_007254.4(PNKP):c.632A>G (p.Tyr211Cys) rs1600420551
NM_007254.4(PNKP):c.636+14C>G rs2122335161
NM_007254.4(PNKP):c.636+15C>G rs773988123
NM_007254.4(PNKP):c.636+1G>C rs1247055716
NM_007254.4(PNKP):c.636+6_636+7del
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.637-3C>T rs2074800259
NM_007254.4(PNKP):c.639G>T (p.Leu213=)
NM_007254.4(PNKP):c.63del (p.Ile22fs) rs1568663209
NM_007254.4(PNKP):c.63dup (p.Ile22fs) rs1568663209
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>G (p.Ile222Met) rs587784369
NM_007254.4(PNKP):c.666C>T (p.Ile222=) rs587784369
NM_007254.4(PNKP):c.673G>C (p.Gly225Arg)
NM_007254.4(PNKP):c.681G>C (p.Leu227=)
NM_007254.4(PNKP):c.683C>T (p.Pro228Leu) rs2122334512
NM_007254.4(PNKP):c.688GAG[1] (p.Glu231del)
NM_007254.4(PNKP):c.69C>T (p.Phe23=) rs2122345008
NM_007254.4(PNKP):c.6C>T (p.Gly2=)
NM_007254.4(PNKP):c.703A>G (p.Lys235Glu) rs2122334434
NM_007254.4(PNKP):c.705G>A (p.Lys235=)
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter) rs982113263
NM_007254.4(PNKP):c.721_723del (p.Glu241del) rs2122334363
NM_007254.4(PNKP):c.731G>A (p.Gly244Glu) rs777786941
NM_007254.4(PNKP):c.731G>T (p.Gly244Val)
NM_007254.4(PNKP):c.737C>A (p.Pro246His)
NM_007254.4(PNKP):c.744+13G>A
NM_007254.4(PNKP):c.744+18G>A
NM_007254.4(PNKP):c.744+1G>C
NM_007254.4(PNKP):c.744+3A>G
NM_007254.4(PNKP):c.745-17C>G
NM_007254.4(PNKP):c.745-7_745-6delinsAA
NM_007254.4(PNKP):c.745-9C>T rs1555811381
NM_007254.4(PNKP):c.755C>T (p.Ala252Val) rs2122333454
NM_007254.4(PNKP):c.756_760del (p.Thr253fs) rs2122333424
NM_007254.4(PNKP):c.762_765del (p.His254fs)
NM_007254.4(PNKP):c.765A>C (p.Ala255=)
NM_007254.4(PNKP):c.775C>T (p.Arg259Trp) rs368301643
NM_007254.4(PNKP):c.793A>G (p.Met265Val)
NM_007254.4(PNKP):c.7G>A (p.Glu3Lys)
NM_007254.4(PNKP):c.801C>T (p.Asp267=)
NM_007254.4(PNKP):c.807G>A (p.Leu269=)
NM_007254.4(PNKP):c.808C>T (p.Gln270Ter) rs965965834
NM_007254.4(PNKP):c.816+3G>A rs763767031
NM_007254.4(PNKP):c.816+4_816+22del rs2122333064
NM_007254.4(PNKP):c.816+8_816+11dup
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.817-3T>C rs2074787691
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.820A>G (p.Asn274Asp) rs1463305699
NM_007254.4(PNKP):c.820_825del (p.Asn274_Asp275del) rs1600418728
NM_007254.4(PNKP):c.821_841del (p.Asn274_Ser280del) rs1555811217
NM_007254.4(PNKP):c.823G>T (p.Asp275Tyr)
NM_007254.4(PNKP):c.825C>G (p.Asp275Glu) rs2074787530
NM_007254.4(PNKP):c.826G>A (p.Gly276Ser) rs746254179
NM_007254.4(PNKP):c.826G>C (p.Gly276Arg) rs746254179
NM_007254.4(PNKP):c.827G>A (p.Gly276Asp)
NM_007254.4(PNKP):c.828C>T (p.Gly276=)
NM_007254.4(PNKP):c.831_832delinsCT (p.Pro278Ser)
NM_007254.4(PNKP):c.840C>T (p.Ser280=) rs754505243
NM_007254.4(PNKP):c.843C>T (p.Ile281=)
NM_007254.4(PNKP):c.847del (p.Asp283fs) rs2122329109
NM_007254.4(PNKP):c.853A>T (p.Ile285Phe) rs750224965
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+1G>T
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.884C>G (p.Ala295Gly)
NM_007254.4(PNKP):c.884C>T (p.Ala295Val) rs753695701
NM_007254.4(PNKP):c.896C>T (p.Pro299Leu) rs2074784919
NM_007254.4(PNKP):c.906G>A (p.Lys302=) rs1555811171
NM_007254.4(PNKP):c.906G>C (p.Lys302Asn) rs1555811171
NM_007254.4(PNKP):c.910_912del (p.Lys304del) rs2122328280
NM_007254.4(PNKP):c.911A>C (p.Lys304Thr)
NM_007254.4(PNKP):c.913G>A (p.Asp305Asn)
NM_007254.4(PNKP):c.916_917del (p.Phe306fs) rs2074784617
NM_007254.4(PNKP):c.920C>T (p.Ser307Phe) rs1555811168
NM_007254.4(PNKP):c.920_922del (p.Ser307del) rs886042225
NM_007254.4(PNKP):c.922T>C (p.Cys308Arg) rs2074784418
NM_007254.4(PNKP):c.924C>G (p.Cys308Trp) rs771622669
NM_007254.4(PNKP):c.927C>T (p.Ala309=)
NM_007254.4(PNKP):c.928G>T (p.Asp310Tyr)
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+13dup rs3739200
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.936+5G>A rs954048668
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.943C>T (p.Leu315Phe)
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.964G>A (p.Ala322Thr)
NM_007254.4(PNKP):c.976G>A (p.Glu326Lys) rs267606956
NM_007254.4(PNKP):c.983_986del (p.Phe328fs)
NM_007254.4(PNKP):c.984del (p.Leu329fs) rs1163218519
NM_007254.4(PNKP):c.986T>C (p.Leu329Pro) rs2074781406
NM_007254.4(PNKP):c.999A>T (p.Ala333=) rs1568660146
NM_007254.4(PNKP):c.999_1005dup (p.Phe336fs)
NM_014191.4(SCN8A):c.629T>C (p.Phe210Ser) rs879255693
NM_014191.4(SCN8A):c.641G>A (p.Gly214Asp) rs879255694
NM_014191.4(SCN8A):c.643A>G (p.Asn215Asp) rs879255695
NM_014191.4(SCN8A):c.647T>A (p.Val216Asp) rs879255696
NM_014191.4(SCN8A):c.647T>G (p.Val216Gly) rs879255696
NM_014191.4(SCN8A):c.667A>G (p.Arg223Gly) rs672601319
NM_014191.4(SCN8A):c.668G>C (p.Arg223Thr)
NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly) rs1592380687
NM_014191.4(SCN8A):c.697G>A (p.Val233Ile) rs1592380699
NM_014191.4(SCN8A):c.697G>T (p.Val233Leu) rs1592380699
NM_015192.4(PLCB1):c.*1081T>C rs573965594
NM_015192.4(PLCB1):c.*1173G>A rs1988050698
NM_015192.4(PLCB1):c.*1342A>C rs1988056532
NM_015192.4(PLCB1):c.*1409A>G rs886056975
NM_015192.4(PLCB1):c.*1473T>A rs1988060561
NM_015192.4(PLCB1):c.*1707A>C rs708910
NM_015192.4(PLCB1):c.*2205C>A rs534913354
NM_015192.4(PLCB1):c.*57T>C rs928795274
NM_015192.4(PLCB1):c.*589G>A rs1988029728
NM_015192.4(PLCB1):c.*743T>C rs886056971
NM_015192.4(PLCB1):c.-222C>G rs1600186673
NM_015192.4(PLCB1):c.-296A>G rs1600186615
NM_015192.4(PLCB1):c.-311T>G rs1370389155
NM_015192.4(PLCB1):c.100-5del rs2051496558
NM_015192.4(PLCB1):c.1010-12G>C rs2123427869
NM_015192.4(PLCB1):c.1010-16T>C
NM_015192.4(PLCB1):c.1010-3T>A rs2123427893
NM_015192.4(PLCB1):c.1010-5T>G
NM_015192.4(PLCB1):c.1011T>C (p.Ala337=)
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.1049G>A (p.Arg350His) rs909616713
NM_015192.4(PLCB1):c.1056G>A (p.Val352=)
NM_015192.4(PLCB1):c.106A>G (p.Thr36Ala) rs377750225
NM_015192.4(PLCB1):c.1073G>A (p.Arg358His)
NM_015192.4(PLCB1):c.1078G>C (p.Val360Leu) rs1224516482
NM_015192.4(PLCB1):c.1087del (p.Asp363fs)
NM_015192.4(PLCB1):c.113T>C (p.Val38Ala)
NM_015192.4(PLCB1):c.1149A>T (p.Thr383=) rs1600258498
NM_015192.4(PLCB1):c.1159T>C (p.Ser387Pro)
NM_015192.4(PLCB1):c.1167+5A>G
NM_015192.4(PLCB1):c.1167+6G>A rs2123428266
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.1168-1G>A rs2123451785
NM_015192.4(PLCB1):c.1168-20A>G
NM_015192.4(PLCB1):c.1179A>G (p.Glu393=)
NM_015192.4(PLCB1):c.1187C>T (p.Ala396Val)
NM_015192.4(PLCB1):c.1206T>C (p.Thr402=) rs1244012742
NM_015192.4(PLCB1):c.1218A>G (p.Pro406=)
NM_015192.4(PLCB1):c.1232T>C (p.Phe411Ser)
NM_015192.4(PLCB1):c.1249T>G (p.Ser417Ala)
NM_015192.4(PLCB1):c.1250+10C>T rs2123451946
NM_015192.4(PLCB1):c.1251-12G>A
NM_015192.4(PLCB1):c.1251-12G>T
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.1274C>T (p.Ala425Val) rs1171674168
NM_015192.4(PLCB1):c.1281C>T (p.Tyr427=)
NM_015192.4(PLCB1):c.1286G>A (p.Arg429Gln) rs551873449
NM_015192.4(PLCB1):c.1288C>A (p.Leu430Met) rs1979306410
NM_015192.4(PLCB1):c.1303G>A (p.Ala435Thr)
NM_015192.4(PLCB1):c.1317G>A (p.Glu439=)
NM_015192.4(PLCB1):c.1319C>A (p.Pro440His)
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.1324G>A (p.Glu442Lys) rs1356153164
NM_015192.4(PLCB1):c.1335+11C>G
NM_015192.4(PLCB1):c.1336-13dup
NM_015192.4(PLCB1):c.1365T>C (p.Pro455=) rs1979399173
NM_015192.4(PLCB1):c.1368G>A (p.Met456Ile) rs1979399616
NM_015192.4(PLCB1):c.1379A>G (p.Tyr460Cys) rs1600272774
NM_015192.4(PLCB1):c.1389G>A (p.Leu463=)
NM_015192.4(PLCB1):c.1401G>A (p.Lys467=)
NM_015192.4(PLCB1):c.1408T>C (p.Ser470Pro) rs1208741312
NM_015192.4(PLCB1):c.1416G>A (p.Lys472=)
NM_015192.4(PLCB1):c.1417T>C (p.Ser473Pro) rs896514396
NM_015192.4(PLCB1):c.1434C>A (p.Gly478=) rs13042785
NM_015192.4(PLCB1):c.1449A>G (p.Ser483=)
NM_015192.4(PLCB1):c.1463A>T (p.Asn488Ile)
NM_015192.4(PLCB1):c.1464C>T (p.Asn488=)
NM_015192.4(PLCB1):c.1467C>G (p.Thr489=) rs1319689571
NM_015192.4(PLCB1):c.1473T>A (p.Ser491Arg) rs2123468950
NM_015192.4(PLCB1):c.1501T>G (p.Ser501Ala) rs763886018
NM_015192.4(PLCB1):c.1508G>A (p.Gly503Glu)
NM_015192.4(PLCB1):c.1514-17T>C
NM_015192.4(PLCB1):c.1514-1G>A
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.1538A>G (p.Asp513Gly) rs941680744
NM_015192.4(PLCB1):c.1544A>T (p.Asp515Val) rs1568573426
NM_015192.4(PLCB1):c.1557C>A (p.Asp519Glu) rs1979694638
NM_015192.4(PLCB1):c.1573A>G (p.Met525Val) rs138851178
NM_015192.4(PLCB1):c.1573A>T (p.Met525Leu) rs138851178
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.1591G>C (p.Gly531Arg) rs1979835329
NM_015192.4(PLCB1):c.159C>T (p.Tyr53=)
NM_015192.4(PLCB1):c.1603A>G (p.Met535Val) rs1979835703
NM_015192.4(PLCB1):c.1612G>T (p.Glu538Ter) rs1600278094
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.1678dup (p.Arg561fs)
NM_015192.4(PLCB1):c.1679-20T>G
NM_015192.4(PLCB1):c.1685A>G (p.Asn562Ser) rs1319493393
NM_015192.4(PLCB1):c.171A>C (p.Gln57His) rs2123032607
NM_015192.4(PLCB1):c.1722A>G (p.Lys574=)
NM_015192.4(PLCB1):c.1729G>A (p.Glu577Lys) rs1600279991
NM_015192.4(PLCB1):c.1740C>T (p.Thr580=) rs2123487994
NM_015192.4(PLCB1):c.1746T>G (p.Ser582=)
NM_015192.4(PLCB1):c.1754A>G (p.Glu585Gly)
NM_015192.4(PLCB1):c.1763+16C>T
NM_015192.4(PLCB1):c.1763+2T>C
NM_015192.4(PLCB1):c.1763+2T>G rs1568574966
NM_015192.4(PLCB1):c.1764-12A>G rs1377870470
NM_015192.4(PLCB1):c.1764-7G>T
NM_015192.4(PLCB1):c.1764A>T (p.Glu588Asp) rs1334933670
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.1773A>T (p.Lys591Asn) rs2123491392
NM_015192.4(PLCB1):c.1774A>T (p.Met592Leu) rs1457373665
NM_015192.4(PLCB1):c.178-2A>G
NM_015192.4(PLCB1):c.178-3C>T rs2122343481
NM_015192.4(PLCB1):c.1785C>T (p.Ser595=)
NM_015192.4(PLCB1):c.1808G>T (p.Arg603Leu)
NM_015192.4(PLCB1):c.1813G>T (p.Asp605Tyr) rs2123491460
NM_015192.4(PLCB1):c.1831C>T (p.Pro611Ser) rs1980094549
NM_015192.4(PLCB1):c.1854T>C (p.Gly618=) rs559952614
NM_015192.4(PLCB1):c.1888+17T>A
NM_015192.4(PLCB1):c.1888+1G>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.1940G>T (p.Gly647Val) rs1555786704
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.1957G>C (p.Glu653Gln) rs2123500903
NM_015192.4(PLCB1):c.196C>T (p.Leu66Phe) rs2122343584
NM_015192.4(PLCB1):c.1970G>A (p.Arg657Lys) rs1980372070
NM_015192.4(PLCB1):c.1971G>A (p.Arg657=) rs1184814410
NM_015192.4(PLCB1):c.1992A>G (p.Pro664=)
NM_015192.4(PLCB1):c.199A>C (p.Ser67Arg) rs1986899325
NM_015192.4(PLCB1):c.2008G>T (p.Val670Leu) rs772981786
NM_015192.4(PLCB1):c.200G>C (p.Ser67Thr) rs775742325
NM_015192.4(PLCB1):c.2015G>A (p.Gly672Glu) rs1555786715
NM_015192.4(PLCB1):c.2017A>G (p.Ile673Val)
NM_015192.4(PLCB1):c.2036_2039del (p.Ser679fs) rs1568577135
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+22del rs761743488
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.209A>G (p.Lys70Arg)
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.2138T>G (p.Phe713Cys) rs2123510528
NM_015192.4(PLCB1):c.2141A>G (p.Lys714Arg) rs2123510534
NM_015192.4(PLCB1):c.214G>A (p.Ala72Thr) rs2122343640
NM_015192.4(PLCB1):c.2155del (p.Gln719fs)
NM_015192.4(PLCB1):c.2176G>C (p.Val726Leu)
NM_015192.4(PLCB1):c.2208+1G>A rs1235234848
NM_015192.4(PLCB1):c.2209-8C>G
NM_015192.4(PLCB1):c.2209-9C>A
NM_015192.4(PLCB1):c.2213T>C (p.Val738Ala) rs1980744187
NM_015192.4(PLCB1):c.223G>A (p.Gly75Arg)
NM_015192.4(PLCB1):c.2243C>T (p.Ala748Val) rs1980745626
NM_015192.4(PLCB1):c.2251G>A (p.Glu751Lys)
NM_015192.4(PLCB1):c.2256A>G (p.Glu752=)
NM_015192.4(PLCB1):c.2270T>C (p.Ile757Thr) rs1488351224
NM_015192.4(PLCB1):c.2278C>T (p.Arg760Cys) rs1194618095
NM_015192.4(PLCB1):c.2290G>C (p.Val764Leu)
NM_015192.4(PLCB1):c.2293C>G (p.Gln765Glu) rs1980748318
NM_015192.4(PLCB1):c.2302C>T (p.Arg768Trp)
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.2318A>T (p.Tyr773Phe) rs948237591
NM_015192.4(PLCB1):c.2320A>T (p.Ile774Phe)
NM_015192.4(PLCB1):c.2324G>A (p.Cys775Tyr) rs1209875193
NM_015192.4(PLCB1):c.2335G>A (p.Glu779Lys)
NM_015192.4(PLCB1):c.2346G>C (p.Gln782His) rs2123518683
NM_015192.4(PLCB1):c.2347C>A (p.Pro783Thr) rs1980812475
NM_015192.4(PLCB1):c.2377A>G (p.Ile793Val) rs1980815338
NM_015192.4(PLCB1):c.2413+20T>C
NM_015192.4(PLCB1):c.2413+3A>C rs2123518817
NM_015192.4(PLCB1):c.2413+6C>A
NM_015192.4(PLCB1):c.2413+8A>G rs1332027028
NM_015192.4(PLCB1):c.2414-17A>C
NM_015192.4(PLCB1):c.2414-6A>G rs1980876450
NM_015192.4(PLCB1):c.2422G>A (p.Glu808Lys)
NM_015192.4(PLCB1):c.242C>T (p.Pro81Leu) rs2122343800
NM_015192.4(PLCB1):c.2442C>A (p.Ile814=)
NM_015192.4(PLCB1):c.2446T>C (p.Tyr816His)
NM_015192.4(PLCB1):c.2448T>C (p.Tyr816=) rs2123521345
NM_015192.4(PLCB1):c.2449G>A (p.Val817Met) rs1568580795
NM_015192.4(PLCB1):c.2457G>A (p.Leu819=)
NM_015192.4(PLCB1):c.2458A>T (p.Met820Leu)
NM_015192.4(PLCB1):c.245A>T (p.Lys82Met) rs1600350860
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.247-3C>A rs1568534926
NM_015192.4(PLCB1):c.247-4C>T rs1183324381
NM_015192.4(PLCB1):c.2478A>G (p.Gln826=)
NM_015192.4(PLCB1):c.2494C>G (p.Leu832Val) rs2123521466
NM_015192.4(PLCB1):c.2504AAG[2] (p.Glu837del) rs1213359058
NM_015192.4(PLCB1):c.2506G>A (p.Glu836Lys) rs1980880915
NM_015192.4(PLCB1):c.2507A>G (p.Glu836Gly)
NM_015192.4(PLCB1):c.250C>A (p.Pro84Thr)
NM_015192.4(PLCB1):c.251C>T (p.Pro84Leu) rs781293608
NM_015192.4(PLCB1):c.2523+11G>A rs2123521619
NM_015192.4(PLCB1):c.2523+17A>G
NM_015192.4(PLCB1):c.2523+3G>A rs2123521598
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.2543C>T (p.Pro848Leu) rs2123562586
NM_015192.4(PLCB1):c.2547A>G (p.Ser849=) rs995924752
NM_015192.4(PLCB1):c.2559T>A (p.Ser853Arg) rs753642857
NM_015192.4(PLCB1):c.2560G>C (p.Glu854Gln) rs1227346164
NM_015192.4(PLCB1):c.2565G>C (p.Ala855=) rs2076413
NM_015192.4(PLCB1):c.2569A>G (p.Thr857Ala)
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.2609T>C (p.Leu870Pro) rs1171306759
NM_015192.4(PLCB1):c.2611A>G (p.Thr871Ala) rs1981777815
NM_015192.4(PLCB1):c.2614C>A (p.Pro872Thr) rs769110563
NM_015192.4(PLCB1):c.2619G>T (p.Lys873Asn) rs1981778719
NM_015192.4(PLCB1):c.2623C>T (p.Pro875Ser) rs1568586909
NM_015192.4(PLCB1):c.2624C>A (p.Pro875His) rs1386644525
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.2650G>A (p.Ala884Thr) rs1274123563
NM_015192.4(PLCB1):c.2656+19G>T rs1254067033
NM_015192.4(PLCB1):c.2656+1G>T
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.265C>A (p.Leu89Ile) rs1988421541
NM_015192.4(PLCB1):c.2666del (p.Lys889fs) rs1981959745
NM_015192.4(PLCB1):c.2669C>T (p.Ala890Val) rs2123572097
NM_015192.4(PLCB1):c.2680A>G (p.Thr894Ala) rs2123572151
NM_015192.4(PLCB1):c.2708C>A (p.Thr903Lys) rs775341189
NM_015192.4(PLCB1):c.2710+17C>T
NM_015192.4(PLCB1):c.2710+22del rs747461333
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.2711-16T>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.2779T>C (p.Tyr927His) rs2123585864
NM_015192.4(PLCB1):c.2788A>G (p.Met930Val)
NM_015192.4(PLCB1):c.2789T>C (p.Met930Thr)
NM_015192.4(PLCB1):c.2796C>T (p.Asp932=)
NM_015192.4(PLCB1):c.2797C>G (p.Leu933Val) rs143664316
NM_015192.4(PLCB1):c.2798T>C (p.Leu933Pro) rs147191017
NM_015192.4(PLCB1):c.2807G>A (p.Arg936Lys) rs1982257294
NM_015192.4(PLCB1):c.2813A>G (p.His938Arg) rs1982257980
NM_015192.4(PLCB1):c.282C>T (p.Asn94=) rs1988422042
NM_015192.4(PLCB1):c.2830C>A (p.Leu944Ile) rs561685256
NM_015192.4(PLCB1):c.2830C>G (p.Leu944Val) rs561685256
NM_015192.4(PLCB1):c.2835C>T (p.Ile945=)
NM_015192.4(PLCB1):c.2836A>G (p.Lys946Glu)
NM_015192.4(PLCB1):c.283A>C (p.Ile95Leu) rs199888561
NM_015192.4(PLCB1):c.2844C>A (p.His948Gln)
NM_015192.4(PLCB1):c.285C>T (p.Ile95=)
NM_015192.4(PLCB1):c.2901A>G (p.Glu967=)
NM_015192.4(PLCB1):c.290G>A (p.Arg97His) rs747785129
NM_015192.4(PLCB1):c.2931-8C>G rs1982848887
NM_015192.4(PLCB1):c.2951A>G (p.Asp984Gly)
NM_015192.4(PLCB1):c.2958T>C (p.Gly986=) rs1273351024
NM_015192.4(PLCB1):c.295G>C (p.Glu99Gln) rs1555777814
NM_015192.4(PLCB1):c.2965A>G (p.Thr989Ala)
NM_015192.4(PLCB1):c.2966C>A (p.Thr989Lys) rs1982851592
NM_015192.4(PLCB1):c.2966C>T (p.Thr989Met)
NM_015192.4(PLCB1):c.2997T>C (p.Ala999=)
NM_015192.4(PLCB1):c.29C>G (p.Ala10Gly) rs1568564198
NM_015192.4(PLCB1):c.29C>T (p.Ala10Val) rs1568564198
NM_015192.4(PLCB1):c.3004A>C (p.Thr1002Pro) rs1358746132
NM_015192.4(PLCB1):c.3015A>C (p.Leu1005Phe) rs765989029
NM_015192.4(PLCB1):c.3016A>G (p.Ile1006Val) rs2146203878
NM_015192.4(PLCB1):c.3048G>A (p.Leu1016=)
NM_015192.4(PLCB1):c.3052A>G (p.Asn1018Asp) rs2146203906
NM_015192.4(PLCB1):c.3058C>T (p.Arg1020Trp) rs1023330264
NM_015192.4(PLCB1):c.3071A>G (p.Tyr1024Cys) rs1982859175
NM_015192.4(PLCB1):c.3072T>C (p.Tyr1024=)
NM_015192.4(PLCB1):c.3093G>A (p.Lys1031=) rs2146203971
NM_015192.4(PLCB1):c.3094C>T (p.Arg1032Ter)
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.3115A>C (p.Ile1039Leu)
NM_015192.4(PLCB1):c.3127A>G (p.Thr1043Ala) rs1983594595
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.3136G>T (p.Ala1046Ser) rs778097231
NM_015192.4(PLCB1):c.3138A>G (p.Ala1046=)
NM_015192.4(PLCB1):c.3141A>G (p.Glu1047=) rs1983595733
NM_015192.4(PLCB1):c.3143A>C (p.Glu1048Ala) rs2146220200
NM_015192.4(PLCB1):c.316G>A (p.Val106Met)
NM_015192.4(PLCB1):c.316G>C (p.Val106Leu) rs1181797347
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.3188+5G>C rs2146220264
NM_015192.4(PLCB1):c.3188A>C (p.Lys1063Thr) rs1371029553
NM_015192.4(PLCB1):c.3189-18C>T rs2146220402
NM_015192.4(PLCB1):c.3189-8G>A rs2146220422
NM_015192.4(PLCB1):c.3215T>C (p.Met1072Thr)
NM_015192.4(PLCB1):c.3237G>A (p.Lys1079=)
NM_015192.4(PLCB1):c.3238A>G (p.Ile1080Val) rs1303531069
NM_015192.4(PLCB1):c.3239T>C (p.Ile1080Thr) rs1983606408
NM_015192.4(PLCB1):c.3249T>G (p.Ala1083=)
NM_015192.4(PLCB1):c.325C>T (p.Pro109Ser) rs748150163
NM_015192.4(PLCB1):c.3271A>G (p.Met1091Val)
NM_015192.4(PLCB1):c.3272T>C (p.Met1091Thr)
NM_015192.4(PLCB1):c.3273G>A (p.Met1091Ile) rs1983608682
NM_015192.4(PLCB1):c.3278+13T>C rs886056965
NM_015192.4(PLCB1):c.3278+16C>A
NM_015192.4(PLCB1):c.3279-9del rs1983650147
NM_015192.4(PLCB1):c.331C>T (p.Leu111Phe) rs373051695
NM_015192.4(PLCB1):c.3321G>A (p.Val1107=) rs1600329135
NM_015192.4(PLCB1):c.3336+18G>A
NM_015192.4(PLCB1):c.3336+18G>T
NM_015192.4(PLCB1):c.3336+3A>G rs773248262
NM_015192.4(PLCB1):c.3337-15G>A
NM_015192.4(PLCB1):c.3337-3T>C rs778662535
NM_015192.4(PLCB1):c.3337-6T>G rs2146222772
NM_015192.4(PLCB1):c.3341A>T (p.Glu1114Val) rs1983683540
NM_015192.4(PLCB1):c.3346G>A (p.Ala1116Thr) rs1983683787
NM_015192.4(PLCB1):c.3348G>C (p.Ala1116=) rs587780417
NM_015192.4(PLCB1):c.3358C>T (p.Arg1120Trp) rs2146222855
NM_015192.4(PLCB1):c.3360G>A (p.Arg1120=) rs2146222865
NM_015192.4(PLCB1):c.3364G>A (p.Glu1122Lys)
NM_015192.4(PLCB1):c.3370C>T (p.Leu1124Phe) rs1983685665
NM_015192.4(PLCB1):c.3373G>T (p.Val1125Leu) rs773333771
NM_015192.4(PLCB1):c.3394C>A (p.Arg1132Ser) rs755357721
NM_015192.4(PLCB1):c.3394C>G (p.Arg1132Gly) rs755357721
NM_015192.4(PLCB1):c.3394C>T (p.Arg1132Cys)
NM_015192.4(PLCB1):c.3400C>G (p.Gln1134Glu)
NM_015192.4(PLCB1):c.3411T>C (p.Asp1137=)
NM_015192.4(PLCB1):c.3419C>A (p.Pro1140His) rs2146222951
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.3423G>A (p.Lys1141=) rs2146222958
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.3447A>C (p.Glu1149Asp) rs142432676
NM_015192.4(PLCB1):c.3449A>G (p.Tyr1150Cys) rs1265159999
NM_015192.4(PLCB1):c.3477C>A (p.Leu1159=)
NM_015192.4(PLCB1):c.3487G>C (p.Glu1163Gln)
NM_015192.4(PLCB1):c.348T>A (p.His116Gln) rs965963245
NM_015192.4(PLCB1):c.3507G>A (p.Met1169Ile) rs2146337606
NM_015192.4(PLCB1):c.3513A>C (p.Gly1171=)
NM_015192.4(PLCB1):c.3513A>G (p.Gly1171=) rs781577271
NM_015192.4(PLCB1):c.3525A>C (p.Glu1175Asp) rs1455824326
NM_015192.4(PLCB1):c.3532A>T (p.Asn1178Tyr)
NM_015192.4(PLCB1):c.3537C>T (p.His1179=)
NM_015192.4(PLCB1):c.3545C>T (p.Ala1182Val) rs1028186212
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.3553T>C (p.Ser1185Pro) rs1988000094
NM_015192.4(PLCB1):c.3559_3563del (p.Ser1187fs) rs2146337709
NM_015192.4(PLCB1):c.3566A>G (p.Asp1189Gly)
NM_015192.4(PLCB1):c.3589A>G (p.Thr1197Ala) rs199568969
NM_015192.4(PLCB1):c.3603G>A (p.Glu1201=)
NM_015192.4(PLCB1):c.360G>T (p.Val120=)
NM_015192.4(PLCB1):c.3619A>G (p.Ile1207Val) rs754119167
NM_015192.4(PLCB1):c.3635T>C (p.Phe1212Ser) rs202009902
NM_015192.4(PLCB1):c.3635T>G (p.Phe1212Cys) rs202009902
NM_015192.4(PLCB1):c.3648G>C (p.Leu1216=) rs2146337863
NM_015192.4(PLCB1):c.368AAG[2] (p.Glu125del) rs766595102
NM_015192.4(PLCB1):c.369A>C (p.Gln123His) rs755560918
NM_015192.4(PLCB1):c.378G>T (p.Val126=)
NM_015192.4(PLCB1):c.384+17T>C
NM_015192.4(PLCB1):c.384+3A>G
NM_015192.4(PLCB1):c.385-15A>C
NM_015192.4(PLCB1):c.400G>A (p.Val134Ile) rs1199339071
NM_015192.4(PLCB1):c.406A>T (p.Ser136Cys)
NM_015192.4(PLCB1):c.413C>T (p.Ala138Val) rs2123285821
NM_015192.4(PLCB1):c.420C>T (p.Asn140=)
NM_015192.4(PLCB1):c.423G>A (p.Leu141=)
NM_015192.4(PLCB1):c.425T>C (p.Leu142Pro) rs2123285875
NM_015192.4(PLCB1):c.437T>C (p.Met146Thr)
NM_015192.4(PLCB1):c.438G>A (p.Met146Ile) rs1989165148
NM_015192.4(PLCB1):c.441C>G (p.Ser147=) rs1031381948
NM_015192.4(PLCB1):c.446A>T (p.Asp149Val) rs2123285994
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+14A>T
NM_015192.4(PLCB1):c.464+16T>C
NM_015192.4(PLCB1):c.464+18T>A
NM_015192.4(PLCB1):c.464+1G>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.465-2A>C rs2123290747
NM_015192.4(PLCB1):c.465C>T (p.Ala155=)
NM_015192.4(PLCB1):c.469A>G (p.Thr157Ala) rs2123290762
NM_015192.4(PLCB1):c.480G>T (p.Lys160Asn)
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.509C>T (p.Pro170Leu) rs1989211414
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.520A>G (p.Ile174Val) rs748138827
NM_015192.4(PLCB1):c.550C>A (p.Arg184=) rs770826618
NM_015192.4(PLCB1):c.568G>A (p.Glu190Lys) rs2123295095
NM_015192.4(PLCB1):c.585A>G (p.Pro195=)
NM_015192.4(PLCB1):c.595-14_595-12del
NM_015192.4(PLCB1):c.595-18C>T
NM_015192.4(PLCB1):c.598G>A (p.Asp200Asn) rs2123318774
NM_015192.4(PLCB1):c.611A>T (p.Gln204Leu) rs1989486420
NM_015192.4(PLCB1):c.612A>T (p.Gln204His) rs1989486497
NM_015192.4(PLCB1):c.619T>A (p.Phe207Ile) rs1358940714
NM_015192.4(PLCB1):c.62G>A (p.Ser21Asn) rs2122992000
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.650A>G (p.Asn217Ser)
NM_015192.4(PLCB1):c.654C>A (p.Asn218Lys)
NM_015192.4(PLCB1):c.664C>G (p.Arg222Gly) rs990536521
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter) rs990536521
NM_015192.4(PLCB1):c.665G>A (p.Arg222Gln) rs755135706
NM_015192.4(PLCB1):c.672A>G (p.Glu224=) rs1555780720
NM_015192.4(PLCB1):c.673A>C (p.Ile225Leu) rs1989488581
NM_015192.4(PLCB1):c.67A>G (p.Lys23Glu) rs2051304754
NM_015192.4(PLCB1):c.682A>G (p.Ile228Val) rs1600230250
NM_015192.4(PLCB1):c.695+11A>G
NM_015192.4(PLCB1):c.695+20G>A rs752982923
NM_015192.4(PLCB1):c.695+6_695+7del rs749649429
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.737T>C (p.Met246Thr)
NM_015192.4(PLCB1):c.73G>A (p.Gly25Ser)
NM_015192.4(PLCB1):c.769C>T (p.Arg257Trp) rs1419504867
NM_015192.4(PLCB1):c.777T>C (p.Asn259=)
NM_015192.4(PLCB1):c.778G>C (p.Glu260Gln) rs2123322675
NM_015192.4(PLCB1):c.781A>G (p.Ile261Val) rs1568549591
NM_015192.4(PLCB1):c.801A>G (p.Lys267=) rs1568549600
NM_015192.4(PLCB1):c.803A>G (p.Gln268Arg) rs1989533526
NM_015192.4(PLCB1):c.806A>G (p.Glu269Gly) rs1989533771
NM_015192.4(PLCB1):c.807G>T (p.Glu269Asp) rs1222914240
NM_015192.4(PLCB1):c.855C>T (p.Ala285=) rs1989536075
NM_015192.4(PLCB1):c.857G>A (p.Arg286Lys) rs1420410909
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+1G>A
NM_015192.4(PLCB1):c.863-15C>T rs2123399297
NM_015192.4(PLCB1):c.863-7C>G rs1990322418
NM_015192.4(PLCB1):c.875T>C (p.Val292Ala) rs370605921
NM_015192.4(PLCB1):c.882G>A (p.Gly294=)
NM_015192.4(PLCB1):c.885C>T (p.Phe295=)
NM_015192.4(PLCB1):c.890G>T (p.Arg297Leu)
NM_015192.4(PLCB1):c.89A>G (p.Lys30Arg) rs772081862
NM_015192.4(PLCB1):c.900T>G (p.Ser300Arg)
NM_015192.4(PLCB1):c.902G>C (p.Gly301Ala) rs2123399482
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.928G>A (p.Glu310Lys)
NM_015192.4(PLCB1):c.967del (p.Ser323fs) rs2123399674
NM_015192.4(PLCB1):c.972C>T (p.His324=) rs1289654666
NM_015192.4(PLCB1):c.99+19C>T
NM_015192.4(PLCB1):c.995A>G (p.Asn332Ser)
NM_015509.4(NECAP1):c.100T>A (p.Ser34Thr) rs2120475831
NM_015509.4(NECAP1):c.10G>A (p.Glu4Lys) rs1555168520
NM_015509.4(NECAP1):c.117C>T (p.Asp39=)
NM_015509.4(NECAP1):c.11A>G (p.Glu4Gly) rs1191200725
NM_015509.4(NECAP1):c.126T>C (p.Asp42=) rs970227105
NM_015509.4(NECAP1):c.12G>A (p.Glu4=)
NM_015509.4(NECAP1):c.131C>A (p.Thr44Asn) rs2120475973
NM_015509.4(NECAP1):c.178C>T (p.Leu60Phe) rs1947528448
NM_015509.4(NECAP1):c.18G>A (p.Glu6=) rs780652766
NM_015509.4(NECAP1):c.196+12G>C rs371530521
NM_015509.4(NECAP1):c.196+20C>G rs2120476352
NM_015509.4(NECAP1):c.197-16T>C
NM_015509.4(NECAP1):c.197-19T>C
NM_015509.4(NECAP1):c.197-5G>C
NM_015509.4(NECAP1):c.197-8T>C rs757344160
NM_015509.4(NECAP1):c.210T>C (p.Ala70=)
NM_015509.4(NECAP1):c.214G>T (p.Ala72Ser) rs1947530992
NM_015509.4(NECAP1):c.217C>T (p.Pro73Ser) rs2120476836
NM_015509.4(NECAP1):c.21C>T (p.Tyr7=)
NM_015509.4(NECAP1):c.228A>G (p.Gln76=)
NM_015509.4(NECAP1):c.236G>A (p.Gly79Asp)
NM_015509.4(NECAP1):c.241G>T (p.Ala81Ser)
NM_015509.4(NECAP1):c.244G>A (p.Val82Met) rs1947531325
NM_015509.4(NECAP1):c.258_273del (p.Asp87fs)
NM_015509.4(NECAP1):c.268C>T (p.Arg90Cys) rs374365372
NM_015509.4(NECAP1):c.26C>G (p.Ser9Cys)
NM_015509.4(NECAP1):c.301+13G>A
NM_015509.4(NECAP1):c.301+1G>A rs1947531929
NM_015509.4(NECAP1):c.302-11G>A rs765403528
NM_015509.4(NECAP1):c.302-11G>T rs765403528
NM_015509.4(NECAP1):c.302-12C>G
NM_015509.4(NECAP1):c.302-5C>T
NM_015509.4(NECAP1):c.30G>A (p.Val10=)
NM_015509.4(NECAP1):c.315C>T (p.Phe105=) rs2120482419
NM_015509.4(NECAP1):c.337C>T (p.Arg113Trp)
NM_015509.4(NECAP1):c.338G>A (p.Arg113Gln)
NM_015509.4(NECAP1):c.346G>T (p.Ala116Ser) rs2120482566
NM_015509.4(NECAP1):c.351C>T (p.Phe117=)
NM_015509.4(NECAP1):c.372G>A (p.Gln124=) rs2120482694
NM_015509.4(NECAP1):c.383+11dup rs2120482806
NM_015509.4(NECAP1):c.383+13T>A
NM_015509.4(NECAP1):c.383+13del
NM_015509.4(NECAP1):c.383+15T>C
NM_015509.4(NECAP1):c.383+3G>T rs1555169180
NM_015509.4(NECAP1):c.384-12G>A
NM_015509.4(NECAP1):c.384-15G>A
NM_015509.4(NECAP1):c.38_39dup (p.Lys14Ter)
NM_015509.4(NECAP1):c.393G>A (p.Lys131=)
NM_015509.4(NECAP1):c.398A>G (p.Glu133Gly)
NM_015509.4(NECAP1):c.422A>G (p.Gln141Arg) rs2120485560
NM_015509.4(NECAP1):c.427A>G (p.Met143Val)
NM_015509.4(NECAP1):c.437G>T (p.Arg146Leu) rs769210779
NM_015509.4(NECAP1):c.442A>G (p.Lys148Glu) rs368565295
NM_015509.4(NECAP1):c.449A>G (p.Asp150Gly) rs2120485644
NM_015509.4(NECAP1):c.479A>C (p.Lys160Thr)
NM_015509.4(NECAP1):c.492+15T>C rs2120485872
NM_015509.4(NECAP1):c.492+18A>T rs2120485883
NM_015509.4(NECAP1):c.515G>A (p.Gly172Asp)
NM_015509.4(NECAP1):c.515G>T (p.Gly172Val)
NM_015509.4(NECAP1):c.51C>T (p.Val17=)
NM_015509.4(NECAP1):c.531G>A (p.Arg177=)
NM_015509.4(NECAP1):c.539G>A (p.Arg180Lys) rs934424311
NM_015509.4(NECAP1):c.542G>C (p.Gly181Ala)
NM_015509.4(NECAP1):c.555C>T (p.Ser185=)
NM_015509.4(NECAP1):c.569C>G (p.Pro190Arg) rs764080699
NM_015509.4(NECAP1):c.570G>A (p.Pro190=) rs148192941
NM_015509.4(NECAP1):c.570G>T (p.Pro190=) rs148192941
NM_015509.4(NECAP1):c.573A>G (p.Pro191=)
NM_015509.4(NECAP1):c.579C>A (p.Gly193=)
NM_015509.4(NECAP1):c.581A>T (p.Lys194Ile) rs765855460
NM_015509.4(NECAP1):c.586A>C (p.Thr196Pro)
NM_015509.4(NECAP1):c.594C>T (p.Pro198=) rs1947563520
NM_015509.4(NECAP1):c.629T>C (p.Val210Ala) rs1205804172
NM_015509.4(NECAP1):c.648G>T (p.Pro216=) rs370869772
NM_015509.4(NECAP1):c.653C>T (p.Ser218Phe) rs371472296
NM_015509.4(NECAP1):c.664G>A (p.Gly222Ser)
NM_015509.4(NECAP1):c.674C>G (p.Ala225Gly) rs2120487076
NM_015509.4(NECAP1):c.676+10G>A
NM_015509.4(NECAP1):c.676+18A>G rs1947564278
NM_015509.4(NECAP1):c.677-12C>T
NM_015509.4(NECAP1):c.677-17del
NM_015509.4(NECAP1):c.681C>A (p.Ile227=)
NM_015509.4(NECAP1):c.68C>T (p.Pro23Leu) rs1947447226
NM_015509.4(NECAP1):c.700C>T (p.Pro234Ser)
NM_015509.4(NECAP1):c.706C>T (p.Pro236Ser)
NM_015509.4(NECAP1):c.709G>A (p.Val237Ile)
NM_015509.4(NECAP1):c.709G>C (p.Val237Leu) rs752918460
NM_015509.4(NECAP1):c.715A>T (p.Thr239Ser) rs1555169422
NM_015509.4(NECAP1):c.734T>C (p.Val245Ala) rs2120495324
NM_015509.4(NECAP1):c.753G>T (p.Leu251Phe) rs1947587871
NM_015509.4(NECAP1):c.765C>T (p.Phe255=)
NM_015509.4(NECAP1):c.779+19C>T
NM_015509.4(NECAP1):c.779G>A (p.Ser260Asn) rs2120495561
NM_015509.4(NECAP1):c.780-12_780-10del
NM_015509.4(NECAP1):c.782C>G (p.Ser261Cys) rs1264229871
NM_015509.4(NECAP1):c.790A>G (p.Asn264Asp) rs2120496634
NM_015509.4(NECAP1):c.794A>T (p.Gln265Leu) rs1427000545
NM_015509.4(NECAP1):c.797C>T (p.Ala266Val) rs1020014973
NM_015509.4(NECAP1):c.810C>T (p.Ser270=)
NM_015509.4(NECAP1):c.818T>C (p.Val273Ala) rs2120496797
NM_015509.4(NECAP1):c.81C>T (p.Ser27=)
NM_015509.4(NECAP1):c.822G>C (p.Gln274His)
NM_015509.4(NECAP1):c.88G>C (p.Gly30Arg)
NM_015509.4(NECAP1):c.8C>G (p.Thr3Ser)
NM_015509.4(NECAP1):c.93C>T (p.Tyr31=) rs2120448200
NM_015509.4(NECAP1):c.95+10C>G
NM_015509.4(NECAP1):c.95+3A>T
NM_015509.4(NECAP1):c.95+4C>T
NM_015509.4(NECAP1):c.96-15C>T
NM_016373.3(WWOX):c.-366-?_516+?del
NM_016373.4(WWOX):c.*15G>T rs533890923
NM_016373.4(WWOX):c.1005G>A (p.Trp335Ter) rs730880290
NM_016373.4(WWOX):c.1057-14T>C rs66481974
NM_016373.4(WWOX):c.1063G>C (p.Gly355Arg) rs2051753978
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.107+2_107+5del rs1555532979
NM_016373.4(WWOX):c.108-13dup rs146697931
NM_016373.4(WWOX):c.108-14_108-13dup rs146697931
NM_016373.4(WWOX):c.108-2A>T rs1597207802
NM_016373.4(WWOX):c.108-6dup rs754221329
NM_016373.4(WWOX):c.1171G>T (p.Glu391Ter) rs375757102
NM_016373.4(WWOX):c.1204G>T (p.Glu402Ter) rs200839945
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln) rs765857107
NM_016373.4(WWOX):c.1223G>T (p.Arg408Leu) rs765857107
NM_016373.4(WWOX):c.1239C>T (p.Ser413=) rs199576434
NM_016373.4(WWOX):c.140C>G (p.Pro47Arg) rs730880292
NM_016373.4(WWOX):c.16T>C (p.Tyr6His) rs1239497096
NM_016373.4(WWOX):c.172+5G>A
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_016373.4(WWOX):c.184G>T (p.Gly62Ter) rs775696083
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter) rs201008667
NM_016373.4(WWOX):c.341T>C (p.Met114Thr) rs761906386
NM_016373.4(WWOX):c.35C>T (p.Thr12Met)
NM_016373.4(WWOX):c.409+16A>C rs12934985
NM_016373.4(WWOX):c.409+1G>C rs1060502727
NM_016373.4(WWOX):c.409+1G>T rs1060502727
NM_016373.4(WWOX):c.410G>T (p.Gly137Val) rs761879076
NM_016373.4(WWOX):c.461C>A (p.Ala154Asp)
NM_016373.4(WWOX):c.46_49del (p.Asp16fs) rs730880291
NM_016373.4(WWOX):c.516+62335_517-3413del
NM_016373.4(WWOX):c.517-44258_606-268del
NM_016373.4(WWOX):c.517C>T (p.His173Tyr) rs777272586
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser) rs11545029
NM_016373.4(WWOX):c.552dup (p.Ala185fs)
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser) rs199511589
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys) rs199511589
NM_016373.4(WWOX):c.605_605+3del rs767732033
NM_016373.4(WWOX):c.606-1778_792-2744del
NM_016373.4(WWOX):c.606-1G>A rs730882215
NM_016373.4(WWOX):c.618G>A (p.Val206=) rs376279847
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_016373.4(WWOX):c.705dup (p.His236fs) rs1597216056
NM_016373.4(WWOX):c.716T>G (p.Leu239Arg) rs2083042603
NM_016373.4(WWOX):c.730C>T (p.Gln244Ter) rs752354290
NM_016373.4(WWOX):c.747C>G (p.Arg249=) rs375934868
NM_016373.4(WWOX):c.791+18A>T rs1023123497
NM_016373.4(WWOX):c.791+1G>A rs1164465811
NM_016373.4(WWOX):c.876T>C (p.Ala292=) rs74030232
NM_016373.4(WWOX):c.876T>G (p.Ala292=) rs74030232
NM_016373.4(WWOX):c.918del (p.Glu306fs) rs1057518795
NM_016373.4(WWOX):c.929G>C (p.Arg310Pro) rs765339835
NM_016373.4(WWOX):c.982_998del (p.Tyr328fs)
NM_016373.4:c.(516+1_517-1)_(605+1_606-1)del
NM_016373.4:c.517-11252_606-17640del
NM_016373.4:c.517-94998_1056+78427del
NM_020705.2(TBC1D24):c.[1218G>C];[1270T>C]
NM_020708.5(SLC12A5):c.1007C>G (p.Thr336Ser)
NM_020708.5(SLC12A5):c.1011A>G (p.Arg337=)
NM_020708.5(SLC12A5):c.1020C>T (p.Val340=) rs775553439
NM_020708.5(SLC12A5):c.1024G>A (p.Glu342Lys) rs2084547129
NM_020708.5(SLC12A5):c.1030C>T (p.Gln344Ter)
NM_020708.5(SLC12A5):c.1033G>A (p.Gly345Ser) rs909559043
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.1060A>G (p.Ile354Val) rs961067707
NM_020708.5(SLC12A5):c.1066+14C>T rs1324741256
NM_020708.5(SLC12A5):c.1066+5G>T
NM_020708.5(SLC12A5):c.1066+6C>T
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.1074C>T (p.Leu358=)
NM_020708.5(SLC12A5):c.1084T>A (p.Tyr362Asn)
NM_020708.5(SLC12A5):c.1089G>T (p.Leu363=)
NM_020708.5(SLC12A5):c.108G>C (p.Lys36Asn) rs970629633
NM_020708.5(SLC12A5):c.1093A>G (p.Lys365Glu) rs1747278164
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.109G>C (p.Gly37Arg)
NM_020708.5(SLC12A5):c.1112G>A (p.Arg371Lys) rs2145491395
NM_020708.5(SLC12A5):c.1119G>A (p.Gly373=) rs986597650
NM_020708.5(SLC12A5):c.1124C>T (p.Thr375Ile) rs772033105
NM_020708.5(SLC12A5):c.1127C>T (p.Ser376Leu) rs1568862550
NM_020708.5(SLC12A5):c.1132G>A (p.Gly378Ser) rs2080922672
NM_020708.5(SLC12A5):c.1144G>A (p.Gly382Ser) rs1450320682
NM_020708.5(SLC12A5):c.1145G>A (p.Gly382Asp)
NM_020708.5(SLC12A5):c.1148C>A (p.Thr383Asn) rs201727005
NM_020708.5(SLC12A5):c.1159A>G (p.Met387Val)
NM_020708.5(SLC12A5):c.115G>T (p.Glu39Ter) rs1600590580
NM_020708.5(SLC12A5):c.1161G>A (p.Met387Ile) rs771205120
NM_020708.5(SLC12A5):c.1164C>T (p.Asp388=)
NM_020708.5(SLC12A5):c.1168C>G (p.Pro390Ala)
NM_020708.5(SLC12A5):c.1174G>A (p.Val392Ile) rs2145491521
NM_020708.5(SLC12A5):c.1194C>T (p.Ser398=)
NM_020708.5(SLC12A5):c.1196A>G (p.Tyr399Cys)
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro) rs863225304
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.1243A>G (p.Met415Val) rs368484023
NM_020708.5(SLC12A5):c.124G>T (p.Gly42Cys) rs2145481710
NM_020708.5(SLC12A5):c.1259G>A (p.Arg420His) rs757586510
NM_020708.5(SLC12A5):c.1287del (p.Lys429fs)
NM_020708.5(SLC12A5):c.1291A>G (p.Ile431Val)
NM_020708.5(SLC12A5):c.1301G>A (p.Gly434Asp) rs2084568578
NM_020708.5(SLC12A5):c.1334T>C (p.Val445Ala) rs2145492118
NM_020708.5(SLC12A5):c.1336+18G>A
NM_020708.5(SLC12A5):c.1337-2A>G
NM_020708.5(SLC12A5):c.1337-9C>T
NM_020708.5(SLC12A5):c.1363G>A (p.Ala455Thr)
NM_020708.5(SLC12A5):c.1374G>A (p.Glu458=) rs145624716
NM_020708.5(SLC12A5):c.1374G>C (p.Glu458Asp)
NM_020708.5(SLC12A5):c.1383C>A (p.Val461=)
NM_020708.5(SLC12A5):c.1386G>A (p.Leu462=)
NM_020708.5(SLC12A5):c.1387C>G (p.Arg463Gly)
NM_020708.5(SLC12A5):c.1387C>T (p.Arg463Trp) rs769265263
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.1423G>A (p.Val475Met) rs1304092442
NM_020708.5(SLC12A5):c.1435C>T (p.Leu479=)
NM_020708.5(SLC12A5):c.143T>C (p.Phe48Ser)
NM_020708.5(SLC12A5):c.1447T>C (p.Ser483Pro) rs2084581427
NM_020708.5(SLC12A5):c.1465A>T (p.Ile489Phe) rs2084581563
NM_020708.5(SLC12A5):c.147+14G>A
NM_020708.5(SLC12A5):c.147+17G>A
NM_020708.5(SLC12A5):c.147+1G>A
NM_020708.5(SLC12A5):c.147+8G>T
NM_020708.5(SLC12A5):c.147+9C>T rs2145481731
NM_020708.5(SLC12A5):c.147G>A (p.Glu49=) rs2084484862
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.1492dup (p.Ala498fs) rs2145493702
NM_020708.5(SLC12A5):c.1499T>C (p.Leu500Pro)
NM_020708.5(SLC12A5):c.1500G>A (p.Leu500=) rs2145493717
NM_020708.5(SLC12A5):c.1500G>T (p.Leu500=)
NM_020708.5(SLC12A5):c.1523G>A (p.Arg508His) rs2084582477
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.1570-6C>T rs2084590595
NM_020708.5(SLC12A5):c.1581T>C (p.His527=) rs923053406
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) rs863225305
NM_020708.5(SLC12A5):c.1593T>C (p.Asn531=)
NM_020708.5(SLC12A5):c.1596A>G (p.Gly532=) rs2145494688
NM_020708.5(SLC12A5):c.1600C>G (p.Pro534Ala)
NM_020708.5(SLC12A5):c.1602G>A (p.Pro534=) rs761507003
NM_020708.5(SLC12A5):c.1613T>C (p.Leu538Pro) rs1555865050
NM_020708.5(SLC12A5):c.1621A>C (p.Thr541Pro)
NM_020708.5(SLC12A5):c.1658C>T (p.Ser553Phe) rs2145494762
NM_020708.5(SLC12A5):c.1667A>G (p.Glu556Gly)
NM_020708.5(SLC12A5):c.1676C>G (p.Pro559Arg)
NM_020708.5(SLC12A5):c.1688+14T>C
NM_020708.5(SLC12A5):c.1688T>C (p.Met563Thr)
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.1702T>C (p.Cys568Arg) rs2145495282
NM_020708.5(SLC12A5):c.171G>A (p.Met57Ile)
NM_020708.5(SLC12A5):c.1739C>T (p.Thr580Met)
NM_020708.5(SLC12A5):c.1757A>G (p.Asn586Ser) rs749064755
NM_020708.5(SLC12A5):c.1767A>G (p.Pro589=)
NM_020708.5(SLC12A5):c.1768C>T (p.Arg590Cys) rs2084595756
NM_020708.5(SLC12A5):c.1775G>A (p.Arg592Gln) rs368661669
NM_020708.5(SLC12A5):c.1778A>T (p.Tyr593Phe)
NM_020708.5(SLC12A5):c.1785C>T (p.His595=) rs1364638744
NM_020708.5(SLC12A5):c.1787+16C>T
NM_020708.5(SLC12A5):c.1787+8C>T rs775097455
NM_020708.5(SLC12A5):c.1787G>A (p.Trp596Ter)
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.17C>T (p.Thr6Met) rs538727547
NM_020708.5(SLC12A5):c.1806C>A (p.Gly602=) rs140595322
NM_020708.5(SLC12A5):c.1806C>T (p.Gly602=)
NM_020708.5(SLC12A5):c.1811G>T (p.Ser604Ile)
NM_020708.5(SLC12A5):c.1824C>T (p.Ala608=) rs959050230
NM_020708.5(SLC12A5):c.1828A>G (p.Met610Val)
NM_020708.5(SLC12A5):c.1834A>G (p.Ile612Val) rs1600600642
NM_020708.5(SLC12A5):c.1845G>A (p.Trp615Ter) rs2145496676
NM_020708.5(SLC12A5):c.1846T>C (p.Tyr616His)
NM_020708.5(SLC12A5):c.1850A>G (p.Tyr617Cys) rs1388235037
NM_020708.5(SLC12A5):c.1854A>G (p.Ala618=)
NM_020708.5(SLC12A5):c.1888A>T (p.Lys630Ter) rs2145496726
NM_020708.5(SLC12A5):c.1890G>A (p.Lys630=)
NM_020708.5(SLC12A5):c.1904G>A (p.Arg635His) rs746932137
NM_020708.5(SLC12A5):c.1907+5G>A rs2084607114
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.1921T>C (p.Trp641Arg) rs2084611541
NM_020708.5(SLC12A5):c.192C>A (p.Gly64=) rs771247445
NM_020708.5(SLC12A5):c.1936C>G (p.Arg646Gly) rs771263913
NM_020708.5(SLC12A5):c.1936C>T (p.Arg646Ter)
NM_020708.5(SLC12A5):c.1960C>A (p.Arg654Ser) rs200020521
NM_020708.5(SLC12A5):c.1960C>T (p.Arg654Cys) rs200020521
NM_020708.5(SLC12A5):c.197C>T (p.Ala66Val) rs2145482188
NM_020708.5(SLC12A5):c.1985_1987dup (p.Glu662dup) rs2145497390
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+18G>A
NM_020708.5(SLC12A5):c.2012+18G>T
NM_020708.5(SLC12A5):c.2012+1G>T rs2145497450
NM_020708.5(SLC12A5):c.2013-15_2013-14del
NM_020708.5(SLC12A5):c.2017C>T (p.Gln673Ter)
NM_020708.5(SLC12A5):c.2020C>T (p.Leu674=) rs1271881068
NM_020708.5(SLC12A5):c.2022G>T (p.Leu674=)
NM_020708.5(SLC12A5):c.2029C>A (p.Leu677Met) rs756040501
NM_020708.5(SLC12A5):c.2059G>T (p.Val687Leu) rs1175869873
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.2074C>T (p.Leu692Phe) rs745527673
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.2087C>T (p.Ser696Phe) rs2145499586
NM_020708.5(SLC12A5):c.2092C>A (p.Leu698Met) rs1325111537
NM_020708.5(SLC12A5):c.2105A>G (p.Lys702Arg) rs1555866427
NM_020708.5(SLC12A5):c.2110C>T (p.Leu704=) rs1600602344
NM_020708.5(SLC12A5):c.2119G>C (p.Val707Leu) rs1199339536
NM_020708.5(SLC12A5):c.2130C>A (p.Val710=) rs2145499678
NM_020708.5(SLC12A5):c.2131C>T (p.Leu711Phe)
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.2155C>A (p.His719Asn) rs2084631866
NM_020708.5(SLC12A5):c.2170C>A (p.Arg724=) rs532191036
NM_020708.5(SLC12A5):c.2181+3G>A
NM_020708.5(SLC12A5):c.2181+5_2181+6delinsAA rs2145499747
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.2185A>T (p.Ile729Phe) rs1479711008
NM_020708.5(SLC12A5):c.219G>A (p.Gln73=)
NM_020708.5(SLC12A5):c.21C>A (p.Asp7Glu) rs1411688611
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.2212G>A (p.Val738Met)
NM_020708.5(SLC12A5):c.2239TCC[1] (p.Ser748del) rs1568866916
NM_020708.5(SLC12A5):c.2248T>A (p.Leu750Met)
NM_020708.5(SLC12A5):c.2250dup (p.Arg751fs) rs2084648529
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.2297T>G (p.Leu766Arg)
NM_020708.5(SLC12A5):c.2297del (p.Leu766fs)
NM_020708.5(SLC12A5):c.2301G>A (p.Gln767=)
NM_020708.5(SLC12A5):c.2301_2302del (p.His768fs) rs2145502127
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.2339G>A (p.Arg780His)
NM_020708.5(SLC12A5):c.2350G>T (p.Asp784Tyr) rs2084649437
NM_020708.5(SLC12A5):c.2360C>T (p.Thr787Met) rs901985864
NM_020708.5(SLC12A5):c.2375T>C (p.Ile792Thr) rs769820337
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.2378-13T>G
NM_020708.5(SLC12A5):c.2378-15C>T
NM_020708.5(SLC12A5):c.2385C>A (p.Val795=)
NM_020708.5(SLC12A5):c.2402G>A (p.Gly801Asp) rs1555867242
NM_020708.5(SLC12A5):c.2407T>G (p.Leu803Val)
NM_020708.5(SLC12A5):c.242C>T (p.Ala81Val) rs76320421
NM_020708.5(SLC12A5):c.2433T>C (p.Val811=)
NM_020708.5(SLC12A5):c.2443C>T (p.Pro815Ser) rs2084659527
NM_020708.5(SLC12A5):c.2448G>T (p.Gly816=)
NM_020708.5(SLC12A5):c.2452C>A (p.Pro818Thr)
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862
NM_020708.5(SLC12A5):c.2478C>T (p.Ile826=)
NM_020708.5(SLC12A5):c.2482G>A (p.Val828Ile)
NM_020708.5(SLC12A5):c.2490G>A (p.Trp830Ter) rs2145503665
NM_020708.5(SLC12A5):c.2493T>A (p.Ile831=) rs2084660049
NM_020708.5(SLC12A5):c.24C>A (p.Cys8Ter) rs2084424489
NM_020708.5(SLC12A5):c.2502T>C (p.Asp834=) rs2145503678
NM_020708.5(SLC12A5):c.2511G>T (p.Met837Ile) rs1251560492
NM_020708.5(SLC12A5):c.2514C>T (p.Leu838=) rs768958786
NM_020708.5(SLC12A5):c.2519del (p.Leu840fs) rs2145503701
NM_020708.5(SLC12A5):c.252T>C (p.Asn84=)
NM_020708.5(SLC12A5):c.2537G>A (p.Arg846Gln)
NM_020708.5(SLC12A5):c.2547+12G>A rs1475116544
NM_020708.5(SLC12A5):c.2547+8G>T rs1555867366
NM_020708.5(SLC12A5):c.2547G>A (p.Lys849=) rs1271576929
NM_020708.5(SLC12A5):c.2548-5_2548-4delinsCT rs1600604943
NM_020708.5(SLC12A5):c.2548-8G>T
NM_020708.5(SLC12A5):c.256G>A (p.Gly86Ser)
NM_020708.5(SLC12A5):c.2570G>T (p.Arg857Leu) rs750336750
NM_020708.5(SLC12A5):c.2577C>T (p.Phe859=) rs2145504264
NM_020708.5(SLC12A5):c.25G>A (p.Glu9Lys)
NM_020708.5(SLC12A5):c.2609A>C (p.Gln870Pro)
NM_020708.5(SLC12A5):c.2628C>T (p.Thr876=)
NM_020708.5(SLC12A5):c.2639A>G (p.Tyr880Cys) rs1270290272
NM_020708.5(SLC12A5):c.2655T>C (p.Thr885=)
NM_020708.5(SLC12A5):c.2657C>T (p.Ala886Val)
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.2665G>A (p.Glu889Lys) rs565709821
NM_020708.5(SLC12A5):c.266del (p.Lys89fs) rs2084489672
NM_020708.5(SLC12A5):c.2672T>C (p.Val891Ala)
NM_020708.5(SLC12A5):c.2679+13G>A
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.2680-20C>T
NM_020708.5(SLC12A5):c.2680-5C>T
NM_020708.5(SLC12A5):c.2682T>A (p.His894Gln) rs2084676640
NM_020708.5(SLC12A5):c.2685G>C (p.Glu895Asp) rs1568868408
NM_020708.5(SLC12A5):c.2706C>T (p.Thr902=)
NM_020708.5(SLC12A5):c.2708A>T (p.Tyr903Phe) rs2145505900
NM_020708.5(SLC12A5):c.2708_2709del (p.Thr902_Tyr903insTer)
NM_020708.5(SLC12A5):c.2719T>C (p.Leu907=)
NM_020708.5(SLC12A5):c.2721G>A (p.Leu907=)
NM_020708.5(SLC12A5):c.2750A>G (p.Lys917Arg) rs2084677325
NM_020708.5(SLC12A5):c.2754G>C (p.Gln918His) rs1417761332
NM_020708.5(SLC12A5):c.275T>C (p.Val92Ala)
NM_020708.5(SLC12A5):c.2760T>C (p.His920=) rs1600605834
NM_020708.5(SLC12A5):c.2767A>G (p.Lys923Glu) rs2084677438
NM_020708.5(SLC12A5):c.276G>A (p.Val92=)
NM_020708.5(SLC12A5):c.2777G>A (p.Arg926Gln)
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.2787+6G>A rs2084677694
NM_020708.5(SLC12A5):c.2788-14A>G
NM_020708.5(SLC12A5):c.2788-8C>T rs2145507462
NM_020708.5(SLC12A5):c.279+1G>C rs1568858867
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.280-18T>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.2806G>A (p.Glu936Lys) rs2084689806
NM_020708.5(SLC12A5):c.2807A>T (p.Glu936Val) rs2145507497
NM_020708.5(SLC12A5):c.2811A>T (p.Ser937=) rs1296196636
NM_020708.5(SLC12A5):c.2812C>A (p.Arg938=)
NM_020708.5(SLC12A5):c.2812C>T (p.Arg938Ter)
NM_020708.5(SLC12A5):c.281C>A (p.Ala94Asp) rs2084493069
NM_020708.5(SLC12A5):c.2831A>C (p.Lys944Thr)
NM_020708.5(SLC12A5):c.2840C>A (p.Ala947Asp) rs199934904
NM_020708.5(SLC12A5):c.2847G>A (p.Thr949=)
NM_020708.5(SLC12A5):c.2856C>T (p.Arg952=) rs2084690897
NM_020708.5(SLC12A5):c.2862C>A (p.Asn954Lys) rs754601939
NM_020708.5(SLC12A5):c.2863G>A (p.Val955Ile)
NM_020708.5(SLC12A5):c.2868A>G (p.Pro956=)
NM_020708.5(SLC12A5):c.286C>A (p.Arg96Ser) rs145700012
NM_020708.5(SLC12A5):c.2872G>A (p.Glu958Lys)
NM_020708.5(SLC12A5):c.287G>T (p.Arg96Leu) rs756873079
NM_020708.5(SLC12A5):c.2888G>A (p.Ser963Asn)
NM_020708.5(SLC12A5):c.288C>T (p.Arg96=)
NM_020708.5(SLC12A5):c.2890G>A (p.Glu964Lys)
NM_020708.5(SLC12A5):c.2894_2898del (p.Glu965fs) rs2145507682
NM_020708.5(SLC12A5):c.289A>T (p.Met97Leu)
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.2910G>A (p.Glu970=)
NM_020708.5(SLC12A5):c.2911-10C>T
NM_020708.5(SLC12A5):c.2911-3C>T rs2084693738
NM_020708.5(SLC12A5):c.2911-5C>T
NM_020708.5(SLC12A5):c.2911-7C>A
NM_020708.5(SLC12A5):c.2925C>A (p.His975Gln) rs778476586
NM_020708.5(SLC12A5):c.2925C>T (p.His975=) rs778476586
NM_020708.5(SLC12A5):c.2926G>A (p.Asp976Asn)
NM_020708.5(SLC12A5):c.2938C>A (p.Pro980Thr) rs2145507934
NM_020708.5(SLC12A5):c.2953A>G (p.Ser985Gly) rs2145507962
NM_020708.5(SLC12A5):c.2958C>T (p.Ser986=)
NM_020708.5(SLC12A5):c.2960C>T (p.Pro987Leu)
NM_020708.5(SLC12A5):c.2963C>T (p.Ser988Phe) rs1600607044
NM_020708.5(SLC12A5):c.2985G>A (p.Gly995=) rs2145508040
NM_020708.5(SLC12A5):c.2989G>A (p.Gly997Arg) rs2084695025
NM_020708.5(SLC12A5):c.298T>A (p.Phe100Ile) rs1396711146
NM_020708.5(SLC12A5):c.2991G>A (p.Gly997=)
NM_020708.5(SLC12A5):c.3001C>T (p.Pro1001Ser) rs2084695249
NM_020708.5(SLC12A5):c.3002C>T (p.Pro1001Leu) rs749426883
NM_020708.5(SLC12A5):c.3009G>A (p.Lys1003=)
NM_020708.5(SLC12A5):c.3010G>A (p.Val1004Met) rs2145508098
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.3028A>G (p.Lys1010Glu) rs2084695663
NM_020708.5(SLC12A5):c.3031G>A (p.Asp1011Asn)
NM_020708.5(SLC12A5):c.3033C>G (p.Asp1011Glu) rs2084695742
NM_020708.5(SLC12A5):c.3040G>A (p.Val1014Met) rs2145508136
NM_020708.5(SLC12A5):c.304G>A (p.Gly102Ser) rs2145482789
NM_020708.5(SLC12A5):c.3051G>A (p.Lys1017=)
NM_020708.5(SLC12A5):c.3072C>G (p.Val1024=)
NM_020708.5(SLC12A5):c.3074C>T (p.Ser1025Phe)
NM_020708.5(SLC12A5):c.3080A>G (p.Glu1027Gly)
NM_020708.5(SLC12A5):c.3091G>C (p.Asp1031His) rs2145508232
NM_020708.5(SLC12A5):c.3096C>A (p.Phe1032Leu)
NM_020708.5(SLC12A5):c.309G>A (p.Val103=) rs748333271
NM_020708.5(SLC12A5):c.3101G>A (p.Ser1034Asn) rs750612388
NM_020708.5(SLC12A5):c.3105G>T (p.Met1035Ile) rs375422132
NM_020708.5(SLC12A5):c.3110+10T>C rs2145508277
NM_020708.5(SLC12A5):c.3110+14G>A
NM_020708.5(SLC12A5):c.3110+1G>A
NM_020708.5(SLC12A5):c.3110+5G>A rs748005684
NM_020708.5(SLC12A5):c.3110C>T (p.Pro1037Leu) rs1304640833
NM_020708.5(SLC12A5):c.3125+20T>C
NM_020708.5(SLC12A5):c.3125+7G>A
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.3126-5del
NM_020708.5(SLC12A5):c.3156G>A (p.Thr1052=) rs200558731
NM_020708.5(SLC12A5):c.3159_3180del (p.Ala1053_Val1054insTer)
NM_020708.5(SLC12A5):c.3163C>A (p.Arg1055=) rs2084704107
NM_020708.5(SLC12A5):c.3173_3175del (p.Glu1058del) rs2084704275
NM_020708.5(SLC12A5):c.3178A>G (p.Ile1060Val) rs770196677
NM_020708.5(SLC12A5):c.317C>T (p.Pro106Leu) rs2084493674
NM_020708.5(SLC12A5):c.3180C>T (p.Ile1060=)
NM_020708.5(SLC12A5):c.318G>T (p.Pro106=)
NM_020708.5(SLC12A5):c.3193C>T (p.Arg1065Trp) rs774675766
NM_020708.5(SLC12A5):c.3195G>C (p.Arg1065=) rs2145509221
NM_020708.5(SLC12A5):c.3199G>A (p.Ala1067Thr) rs1600607907
NM_020708.5(SLC12A5):c.3200C>G (p.Ala1067Gly) rs2084704738
NM_020708.5(SLC12A5):c.3218A>G (p.Asn1073Ser) rs1402047500
NM_020708.5(SLC12A5):c.3222G>A (p.Met1074Ile) rs2084704882
NM_020708.5(SLC12A5):c.3240C>T (p.Asn1080=) rs912083023
NM_020708.5(SLC12A5):c.3242G>A (p.Arg1081His) rs376095009
NM_020708.5(SLC12A5):c.3243C>T (p.Arg1081=)
NM_020708.5(SLC12A5):c.3250G>A (p.Asp1084Asn) rs2084705283
NM_020708.5(SLC12A5):c.3260-3C>G
NM_020708.5(SLC12A5):c.3260-9G>C rs371575101
NM_020708.5(SLC12A5):c.3267G>T (p.Glu1089Asp) rs374697509
NM_020708.5(SLC12A5):c.326A>G (p.Gln109Arg) rs2145482810
NM_020708.5(SLC12A5):c.3274G>A (p.Glu1092Lys) rs1555868402
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.3304A>T (p.Met1102Leu) rs2084707984
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.355C>T (p.Arg119Trp) rs3848724
NM_020708.5(SLC12A5):c.363C>G (p.Thr121=)
NM_020708.5(SLC12A5):c.369G>A (p.Val123=) rs2084494146
NM_020708.5(SLC12A5):c.377T>C (p.Ile126Thr) rs758760799
NM_020708.5(SLC12A5):c.39G>C (p.Gly13=) rs2145473827
NM_020708.5(SLC12A5):c.403A>G (p.Met135Val) rs2145482911
NM_020708.5(SLC12A5):c.411C>A (p.Phe137Leu) rs2145482914
NM_020708.5(SLC12A5):c.413T>G (p.Ile138Ser) rs2145482918
NM_020708.5(SLC12A5):c.418T>C (p.Cys140Arg) rs2145482936
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.427-3C>T
NM_020708.5(SLC12A5):c.427-6T>C
NM_020708.5(SLC12A5):c.427-7C>G rs2145483872
NM_020708.5(SLC12A5):c.428C>T (p.Thr143Met) rs764963565
NM_020708.5(SLC12A5):c.429G>A (p.Thr143=) rs749462257
NM_020708.5(SLC12A5):c.42dup (p.Ala15fs) rs2084424722
NM_020708.5(SLC12A5):c.435C>T (p.Leu145=) rs1600591942
NM_020708.5(SLC12A5):c.437C>T (p.Thr146Met) rs2084502132
NM_020708.5(SLC12A5):c.447C>T (p.Ser149=)
NM_020708.5(SLC12A5):c.457A>T (p.Ile153Phe)
NM_020708.5(SLC12A5):c.45C>T (p.Ala15=)
NM_020708.5(SLC12A5):c.464C>T (p.Thr155Met) rs2084502373
NM_020708.5(SLC12A5):c.470G>A (p.Gly157Asp) rs2084502438
NM_020708.5(SLC12A5):c.477G>T (p.Val159=)
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.50C>G (p.Pro17Arg)
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+19del rs1462751577
NM_020708.5(SLC12A5):c.52+21_52+35del rs141158582
NM_020708.5(SLC12A5):c.52+9T>C
NM_020708.5(SLC12A5):c.529G>C (p.Gly177Arg)
NM_020708.5(SLC12A5):c.53-2A>C
NM_020708.5(SLC12A5):c.53-2A>G rs2084483775
NM_020708.5(SLC12A5):c.53-9C>A rs2145481592
NM_020708.5(SLC12A5):c.531_532insT (p.Gly178fs) rs2145484584
NM_020708.5(SLC12A5):c.53G>A (p.Gly18Asp)
NM_020708.5(SLC12A5):c.553T>C (p.Tyr185His)
NM_020708.5(SLC12A5):c.563C>A (p.Thr188Asn) rs2145484631
NM_020708.5(SLC12A5):c.572C>T (p.Ala191Val) rs1568859798
NM_020708.5(SLC12A5):c.575G>C (p.Gly192Ala)
NM_020708.5(SLC12A5):c.587T>A (p.Ile196Asn) rs2145484652
NM_020708.5(SLC12A5):c.601G>A (p.Glu201Lys) rs868598822
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.613G>A (p.Ala205Thr) rs2084534894
NM_020708.5(SLC12A5):c.626C>T (p.Pro209Leu)
NM_020708.5(SLC12A5):c.631A>G (p.Met211Val) rs2145487863
NM_020708.5(SLC12A5):c.636C>T (p.Ala212=)
NM_020708.5(SLC12A5):c.645G>A (p.Lys215=)
NM_020708.5(SLC12A5):c.64C>A (p.Pro22Thr) rs2084483871
NM_020708.5(SLC12A5):c.655G>A (p.Ala219Thr)
NM_020708.5(SLC12A5):c.669A>G (p.Ala223=) rs932821826
NM_020708.5(SLC12A5):c.675C>T (p.Ala225=)
NM_020708.5(SLC12A5):c.684C>A (p.Asn228Lys) rs2084535559
NM_020708.5(SLC12A5):c.688A>G (p.Met230Val) rs2145487913
NM_020708.5(SLC12A5):c.689T>G (p.Met230Arg) rs2084535623
NM_020708.5(SLC12A5):c.694G>A (p.Val232Ile) rs1555863136
NM_020708.5(SLC12A5):c.6A>G (p.Leu2=)
NM_020708.5(SLC12A5):c.710_711del (p.Val237fs) rs1555863145
NM_020708.5(SLC12A5):c.714C>T (p.Leu238=)
NM_020708.5(SLC12A5):c.723G>A (p.Met241Ile) rs766598411
NM_020708.5(SLC12A5):c.732G>T (p.Val244=) rs2145487973
NM_020708.5(SLC12A5):c.749A>C (p.Lys250Thr)
NM_020708.5(SLC12A5):c.750G>A (p.Lys250=)
NM_020708.5(SLC12A5):c.750G>T (p.Lys250Asn) rs777601251
NM_020708.5(SLC12A5):c.756C>T (p.Val252=) rs1206373570
NM_020708.5(SLC12A5):c.75C>T (p.Ser25=)
NM_020708.5(SLC12A5):c.772G>T (p.Val258Phe)
NM_020708.5(SLC12A5):c.802C>T (p.Leu268=)
NM_020708.5(SLC12A5):c.837C>T (p.Phe279=)
NM_020708.5(SLC12A5):c.848A>G (p.Asn283Ser)
NM_020708.5(SLC12A5):c.854+13G>T
NM_020708.5(SLC12A5):c.854+1G>A
NM_020708.5(SLC12A5):c.855-18C>T
NM_020708.5(SLC12A5):c.855-66G>A
NM_020708.5(SLC12A5):c.855-6C>T rs774297761
NM_020708.5(SLC12A5):c.855-9T>A rs2145488945
NM_020708.5(SLC12A5):c.863T>A (p.Leu288His) rs863225306
NM_020708.5(SLC12A5):c.865C>T (p.Leu289=) rs2145488960
NM_020708.5(SLC12A5):c.866T>G (p.Leu289Arg) rs1600595445
NM_020708.5(SLC12A5):c.86T>C (p.Ile29Thr) rs2084484090
NM_020708.5(SLC12A5):c.879G>A (p.Thr293=) rs138406290
NM_020708.5(SLC12A5):c.893G>T (p.Gly298Val) rs1317503439
NM_020708.5(SLC12A5):c.900T>G (p.Asp300Glu) rs765877175
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.937G>T (p.Val313Leu) rs138569099
NM_020708.5(SLC12A5):c.939G>A (p.Val313=) rs149300952
NM_020708.5(SLC12A5):c.941C>T (p.Thr314Ile)
NM_020708.5(SLC12A5):c.944C>T (p.Thr315Ile) rs2145489127
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.953G>C (p.Trp318Ser) rs1259210706
NM_020708.5(SLC12A5):c.961T>C (p.Phe321Leu) rs1600595577
NM_020708.5(SLC12A5):c.962del (p.Phe321fs)
NM_020708.5(SLC12A5):c.966C>A (p.Cys322Ter)
NM_020708.5(SLC12A5):c.967T>C (p.Ser323Pro) rs1220094830
NM_020708.5(SLC12A5):c.975C>T (p.Arg325=)
NM_020708.5(SLC12A5):c.978C>T (p.Phe326=)
NM_020708.5(SLC12A5):c.980dup (p.Asn328fs) rs1555863593
NM_020708.5(SLC12A5):c.995A>G (p.Asp332Gly)
NM_020708.5(SLC12A5):c.9C>T (p.Asn3=)
NM_021072.4(HCN1):c.1012-3C>T rs1739694635
NM_021072.4(HCN1):c.1096C>A (p.Pro366Thr)
NM_021072.4(HCN1):c.1139T>A (p.Ile380Asn)
NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser) rs1561139569
NM_021072.4(HCN1):c.1171G>T (p.Gly391Cys)
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) rs1057519547
NM_021072.4(HCN1):c.1183G>A (p.Ala395Thr) rs1739691061
NM_021072.4(HCN1):c.1201G>C (p.Asp401His) rs587777491
NM_021072.4(HCN1):c.1377+19834C>T rs761223261
NM_021072.4(HCN1):c.1562G>T (p.Gly521Val) rs1745671912
NM_021072.4(HCN1):c.159C>A (p.His53Gln)
NM_021072.4(HCN1):c.1646G>A (p.Arg549His)
NM_021072.4(HCN1):c.1753A>T (p.Thr585Ser) rs1561081327
NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup) rs1485709375
NM_021072.4(HCN1):c.1948A>C (p.Thr650Pro) rs776850213
NM_021072.4(HCN1):c.195_200del (p.Gly73_Gly74del)
NM_021072.4(HCN1):c.2019G>A (p.Leu673=) rs767602409
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del) rs747975797
NM_021072.4(HCN1):c.2075C>G (p.Ala692Gly) rs1561079301
NM_021072.4(HCN1):c.2165C>T (p.Pro722Leu) rs2111839334
NM_021072.4(HCN1):c.2230C>T (p.Pro744Ser)
NM_021072.4(HCN1):c.2246A>C (p.Gln749Pro)
NM_021072.4(HCN1):c.2654G>T (p.Arg885Leu)
NM_021072.4(HCN1):c.282G>A (p.Met94Ile) rs748665278
NM_021072.4(HCN1):c.299C>T (p.Ser100Phe) rs587777492
NM_021072.4(HCN1):c.414del (p.Pro137_Tyr138insTer) rs1554040120
NM_021072.4(HCN1):c.459G>C (p.Met153Ile) rs1057519548
NM_021072.4(HCN1):c.499T>C (p.Phe167Leu)
NM_021072.4(HCN1):c.535A>T (p.Asn179Tyr)
NM_021072.4(HCN1):c.57C>A (p.Ser19Arg)
NM_021072.4(HCN1):c.701A>G (p.Tyr234Cys)
NM_021072.4(HCN1):c.74C>A (p.Ala25Glu) rs1469192494
NM_021072.4(HCN1):c.794T>A (p.Leu265His)
NM_021072.4(HCN1):c.814T>C (p.Ser272Pro) rs587777493
NM_021072.4(HCN1):c.835C>T (p.His279Tyr) rs587777495
NM_021072.4(HCN1):c.844G>A (p.Glu282Lys)
NM_021072.4(HCN1):c.849+66420G>T rs986310668
NM_021072.4(HCN1):c.890G>C (p.Arg297Thr) rs587777494
NM_021072.4(HCN1):c.913A>T (p.Met305Leu) rs1057521989
NM_021072.4(HCN1):c.928C>T (p.His310Tyr) rs2111627182
NM_021072.4(HCN1):c.986G>T (p.Cys329Phe)
NM_024818.6(UBA5):c.1165G>T (p.Asp389Tyr) rs886039760
NM_024818.6(UBA5):c.160dup (p.Ser54fs) rs1938110760
NM_024818.6(UBA5):c.164G>A (p.Arg55His) rs774318611
NM_024818.6(UBA5):c.199G>T (p.Asp67Tyr) rs61748106
NM_024818.6(UBA5):c.1A>G (p.Met1Val) rs2107921941
NM_024818.6(UBA5):c.280A>G (p.Arg94Gly)
NM_024818.6(UBA5):c.290T>C (p.Ile97Thr)
NM_024818.6(UBA5):c.297+2T>C
NM_024818.6(UBA5):c.32G>A (p.Arg11Gln)
NM_024818.6(UBA5):c.36_37del (p.Gln13fs) rs2107922089
NM_024818.6(UBA5):c.503G>A (p.Gly168Glu) rs886039761
NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr)
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter) rs374052333
NM_024818.6(UBA5):c.676T>C (p.Cys226Arg)
NM_024818.6(UBA5):c.692C>T (p.Pro231Leu)
NM_024818.6(UBA5):c.707del (p.Ala236fs)
NM_024818.6(UBA5):c.761T>C (p.Leu254Pro) rs2107943727
NM_024818.6(UBA5):c.778G>A (p.Val260Met) rs886039759
NM_024818.6(UBA5):c.855C>A (p.Tyr285Ter) rs745968949
NM_024818.6(UBA5):c.904C>T (p.Gln302Ter) rs886039757
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg) rs1553770577
NM_024818.6(UBA5):c.910G>A (p.Asp304Asn) rs772888455
NM_024818.6(UBA5):c.971_972insC (p.Lys324fs) rs886039758
NM_139318.5(KCNH5):c.1388T>C (p.Ile463Thr)
NM_139318.5(KCNH5):c.1402A>C (p.Thr468Pro)
NM_139318.5(KCNH5):c.1412T>C (p.Phe471Ser)
NM_139318.5(KCNH5):c.2020-4A>G
NM_139318.5(KCNH5):c.980G>A (p.Arg327His) rs587777164
NM_139318.5(KCNH5):c.998G>A (p.Arg333His) rs1383017734
NM_177550.5(SLC13A5):c.-5G>A rs201070767
NM_177550.5(SLC13A5):c.-5G>C rs201070767
NM_177550.5(SLC13A5):c.1000G>T (p.Asp334Tyr) rs1183731879
NM_177550.5(SLC13A5):c.1005C>A (p.Pro335=) rs56224509
NM_177550.5(SLC13A5):c.1015C>A (p.Pro339Thr)
NM_177550.5(SLC13A5):c.1017C>G (p.Pro339=) rs200365614
NM_177550.5(SLC13A5):c.102+11T>A
NM_177550.5(SLC13A5):c.102+13del rs2151505633
NM_177550.5(SLC13A5):c.102+19C>A
NM_177550.5(SLC13A5):c.102+20A>G
NM_177550.5(SLC13A5):c.102+9C>T
NM_177550.5(SLC13A5):c.102G>A (p.Lys34=) rs2151505650
NM_177550.5(SLC13A5):c.103-10G>A rs2151498872
NM_177550.5(SLC13A5):c.103-14G>A
NM_177550.5(SLC13A5):c.103-1G>A rs1597677742
NM_177550.5(SLC13A5):c.103-20C>G
NM_177550.5(SLC13A5):c.1052C>A (p.Thr351Lys)
NM_177550.5(SLC13A5):c.1053A>G (p.Thr351=)
NM_177550.5(SLC13A5):c.1055+10G>A
NM_177550.5(SLC13A5):c.1055+12A>G rs1567617699
NM_177550.5(SLC13A5):c.1055+14T>G
NM_177550.5(SLC13A5):c.1056-15C>A
NM_177550.5(SLC13A5):c.1056-1G>C rs113208940
NM_177550.5(SLC13A5):c.1056-4C>A rs763014412
NM_177550.5(SLC13A5):c.1056-5C>T rs1597661291
NM_177550.5(SLC13A5):c.1056-6A>G rs1597661297
NM_177550.5(SLC13A5):c.1071C>T (p.Ala357=)
NM_177550.5(SLC13A5):c.1087G>A (p.Val363Met) rs2151485566
NM_177550.5(SLC13A5):c.1093A>C (p.Thr365Pro)
NM_177550.5(SLC13A5):c.1094C>T (p.Thr365Ile) rs760586654
NM_177550.5(SLC13A5):c.1096del (p.Leu366fs)
NM_177550.5(SLC13A5):c.1097T>C (p.Leu366Pro)
NM_177550.5(SLC13A5):c.1098G>A (p.Leu366=)
NM_177550.5(SLC13A5):c.1098G>T (p.Leu366=) rs1355898652
NM_177550.5(SLC13A5):c.10G>C (p.Ala4Pro) rs2151505878
NM_177550.5(SLC13A5):c.1117C>T (p.Gln373Ter) rs2151485506
NM_177550.5(SLC13A5):c.111G>C (p.Arg37Ser) rs2151498848
NM_177550.5(SLC13A5):c.1126A>G (p.Lys376Glu)
NM_177550.5(SLC13A5):c.1137C>T (p.Phe379=)
NM_177550.5(SLC13A5):c.1139G>A (p.Arg380His) rs747458897
NM_177550.5(SLC13A5):c.1139G>T (p.Arg380Leu) rs747458897
NM_177550.5(SLC13A5):c.1141del (p.Ser381fs) rs1555541486
NM_177550.5(SLC13A5):c.1150G>A (p.Glu384Lys) rs1461948332
NM_177550.5(SLC13A5):c.1156+11T>G rs1172086493
NM_177550.5(SLC13A5):c.1156+1G>A rs1555541483
NM_177550.5(SLC13A5):c.1156+1_1156+5del
NM_177550.5(SLC13A5):c.1156+20C>A rs368150158
NM_177550.5(SLC13A5):c.1156+3A>G
NM_177550.5(SLC13A5):c.1156+5G>A
NM_177550.5(SLC13A5):c.1156+7C>A
NM_177550.5(SLC13A5):c.1157-16T>G
NM_177550.5(SLC13A5):c.1157-19_1157-18insTGTA
NM_177550.5(SLC13A5):c.1157-4C>A rs772441738
NM_177550.5(SLC13A5):c.1157-68GT[12]
NM_177550.5(SLC13A5):c.1157-68GT[13] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[14] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[16] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[17] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[18] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[19] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[20] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[21] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[22] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[23] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[24] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[25] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[27] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[28] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[29] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[30] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[31] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[32] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[33] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[34] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[35] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[36] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[38]
NM_177550.5(SLC13A5):c.1157-68GT[8]
NM_177550.5(SLC13A5):c.1157-68GT[9]
NM_177550.5(SLC13A5):c.1159A>G (p.Arg387Gly)
NM_177550.5(SLC13A5):c.1162A>G (p.Lys388Glu) rs756710649
NM_177550.5(SLC13A5):c.1178C>T (p.Pro393Leu) rs1973458109
NM_177550.5(SLC13A5):c.1181C>T (p.Pro394Leu)
NM_177550.5(SLC13A5):c.1182T>A (p.Pro394=)
NM_177550.5(SLC13A5):c.1189C>T (p.Leu397=)
NM_177550.5(SLC13A5):c.1198A>C (p.Lys400Gln) rs1597659809
NM_177550.5(SLC13A5):c.1199A>T (p.Lys400Met) rs1973457144
NM_177550.5(SLC13A5):c.11C>T (p.Ala4Val) rs1356594210
NM_177550.5(SLC13A5):c.1206C>G (p.Thr402=)
NM_177550.5(SLC13A5):c.1207_1217dup (p.Pro407fs) rs863225447
NM_177550.5(SLC13A5):c.1219C>T (p.Pro407Ser) rs974605915
NM_177550.5(SLC13A5):c.1231G>A (p.Val411Met) rs1207618696
NM_177550.5(SLC13A5):c.1240C>G (p.Leu414Val) rs1206208725
NM_177550.5(SLC13A5):c.1241T>C (p.Leu414Pro)
NM_177550.5(SLC13A5):c.1242A>G (p.Leu414=)
NM_177550.5(SLC13A5):c.1247del (p.Gly416fs)
NM_177550.5(SLC13A5):c.1248C>A (p.Gly416=) rs139042926
NM_177550.5(SLC13A5):c.1248C>G (p.Gly416=) rs139042926
NM_177550.5(SLC13A5):c.1248C>T (p.Gly416=) rs139042926
NM_177550.5(SLC13A5):c.124A>C (p.Ile42Leu) rs2151498818
NM_177550.5(SLC13A5):c.1252T>A (p.Phe418Ile)
NM_177550.5(SLC13A5):c.1258C>G (p.Leu420Val)
NM_177550.5(SLC13A5):c.1259T>C (p.Leu420Pro) rs150738356
NM_177550.5(SLC13A5):c.1273G>A (p.Glu425Lys) rs754804579
NM_177550.5(SLC13A5):c.1275+15C>T rs2150966936
NM_177550.5(SLC13A5):c.1275+9T>A
NM_177550.5(SLC13A5):c.1275+9_1275+70del rs2150966895
NM_177550.5(SLC13A5):c.1276-11G>A rs1597657068
NM_177550.5(SLC13A5):c.1276-15C>T
NM_177550.5(SLC13A5):c.1276-1G>A rs1597657030
NM_177550.5(SLC13A5):c.1276-9G>T
NM_177550.5(SLC13A5):c.1290C>G (p.Ser430=) rs756166033
NM_177550.5(SLC13A5):c.1291G>T (p.Val431Leu) rs201036096
NM_177550.5(SLC13A5):c.1298T>C (p.Met433Thr) rs1064796654
NM_177550.5(SLC13A5):c.1300G>A (p.Gly434Arg) rs759705304
NM_177550.5(SLC13A5):c.1300G>C (p.Gly434Arg) rs759705304
NM_177550.5(SLC13A5):c.1308_1322del (p.Gln436_Leu440del) rs1197782289
NM_177550.5(SLC13A5):c.1333C>A (p.Pro445Thr) rs373587508
NM_177550.5(SLC13A5):c.1335G>A (p.Pro445=) rs138802643
NM_177550.5(SLC13A5):c.1335G>C (p.Pro445=) rs138802643
NM_177550.5(SLC13A5):c.1341C>T (p.Ala447=)
NM_177550.5(SLC13A5):c.1348T>C (p.Leu450=)
NM_177550.5(SLC13A5):c.1349T>C (p.Leu450Ser)
NM_177550.5(SLC13A5):c.1356G>A (p.Leu452=)
NM_177550.5(SLC13A5):c.1357T>A (p.Ser453Thr) rs2150964801
NM_177550.5(SLC13A5):c.135G>A (p.Met45Ile) rs1311732049
NM_177550.5(SLC13A5):c.1362G>C (p.Leu454Phe) rs778880558
NM_177550.5(SLC13A5):c.1363C>T (p.Leu455Phe) rs1386156410
NM_177550.5(SLC13A5):c.1371C>T (p.Ala457=)
NM_177550.5(SLC13A5):c.1379C>A (p.Thr460Asn) rs2150964787
NM_177550.5(SLC13A5):c.137C>T (p.Ala46Val) rs762903735
NM_177550.5(SLC13A5):c.1383G>A (p.Glu461=)
NM_177550.5(SLC13A5):c.1403C>A (p.Thr468Asn)
NM_177550.5(SLC13A5):c.1405A>G (p.Thr469Ala) rs1475919318
NM_177550.5(SLC13A5):c.1411T>G (p.Leu471Val) rs1209800037
NM_177550.5(SLC13A5):c.1412del (p.Leu471fs)
NM_177550.5(SLC13A5):c.1414T>C (p.Phe472Leu)
NM_177550.5(SLC13A5):c.1422C>T (p.Pro474=) rs2150964713
NM_177550.5(SLC13A5):c.1423A>G (p.Ile475Val)
NM_177550.5(SLC13A5):c.1428T>C (p.Phe476=) rs1450058801
NM_177550.5(SLC13A5):c.1437+15del rs1555540915
NM_177550.5(SLC13A5):c.1437+20G>A
NM_177550.5(SLC13A5):c.1437+20G>C
NM_177550.5(SLC13A5):c.1437+9C>T rs1216705623
NM_177550.5(SLC13A5):c.1437G>A (p.Met479Ile)
NM_177550.5(SLC13A5):c.1438-19C>T
NM_177550.5(SLC13A5):c.1438-2A>G
NM_177550.5(SLC13A5):c.1438-3C>A
NM_177550.5(SLC13A5):c.1438-4G>T
NM_177550.5(SLC13A5):c.1438T>C (p.Ser480Pro) rs2150961873
NM_177550.5(SLC13A5):c.1445C>T (p.Ser482Phe) rs1236635295
NM_177550.5(SLC13A5):c.1454T>C (p.Leu485Pro) rs148049520
NM_177550.5(SLC13A5):c.1457A>G (p.Asn486Ser)
NM_177550.5(SLC13A5):c.1462C>A (p.Leu488Met) rs754295995
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578
NM_177550.5(SLC13A5):c.1471A>C (p.Met491Leu)
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro) rs1057519449
NM_177550.5(SLC13A5):c.1475del (p.Leu492fs) rs766330201
NM_177550.5(SLC13A5):c.1483_1491del (p.Thr495_Ser497del) rs1255190713
NM_177550.5(SLC13A5):c.1484C>T (p.Thr495Ile)
NM_177550.5(SLC13A5):c.1494C>T (p.Ala498=) rs1046475172
NM_177550.5(SLC13A5):c.1497C>A (p.Ser499=) rs949451311
NM_177550.5(SLC13A5):c.1510T>C (p.Leu504=) rs759151984
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_177550.5(SLC13A5):c.1519G>T (p.Ala507Ser)
NM_177550.5(SLC13A5):c.1524C>T (p.Thr508=) rs2150961768
NM_177550.5(SLC13A5):c.1536C>T (p.Ala512=) rs1973282772
NM_177550.5(SLC13A5):c.1558C>T (p.Leu520Phe) rs779246920
NM_177550.5(SLC13A5):c.1563G>A (p.Lys521=) rs1597653033
NM_177550.5(SLC13A5):c.1564G>A (p.Val522Ile) rs1221511903
NM_177550.5(SLC13A5):c.1570G>C (p.Asp524His) rs863225448
NM_177550.5(SLC13A5):c.1573A>C (p.Met525Leu)
NM_177550.5(SLC13A5):c.1575+4A>T
NM_177550.5(SLC13A5):c.1575+8A>G
NM_177550.5(SLC13A5):c.1576-20T>A rs2150960911
NM_177550.5(SLC13A5):c.1576-4C>G
NM_177550.5(SLC13A5):c.1585G>A (p.Gly529Arg)
NM_177550.5(SLC13A5):c.1599C>A (p.Asn533Lys) rs1973250595
NM_177550.5(SLC13A5):c.15_19del (p.Ser6fs)
NM_177550.5(SLC13A5):c.1600A>G (p.Ile534Val) rs1973250507
NM_177550.5(SLC13A5):c.1602A>G (p.Ile534Met)
NM_177550.5(SLC13A5):c.1606G>A (p.Gly536Arg)
NM_177550.5(SLC13A5):c.1615T>C (p.Cys539Arg) rs1597651569
NM_177550.5(SLC13A5):c.1622T>C (p.Phe541Ser)
NM_177550.5(SLC13A5):c.1622T>G (p.Phe541Cys)
NM_177550.5(SLC13A5):c.1624T>C (p.Leu542=)
NM_177550.5(SLC13A5):c.1632C>T (p.Val544=) rs1597651519
NM_177550.5(SLC13A5):c.1643G>A (p.Gly548Glu)
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile) rs1453393447
NM_177550.5(SLC13A5):c.1687G>A (p.Val563Met) rs1973247421
NM_177550.5(SLC13A5):c.168G>A (p.Leu56=)
NM_177550.5(SLC13A5):c.1696_1697del (p.His565_Ile566insTer) rs1311685227
NM_177550.5(SLC13A5):c.169G>T (p.Ala57Ser) rs1223073326
NM_177550.5(SLC13A5):c.1705T>C (p.Ter569Gln) rs2150960732
NM_177550.5(SLC13A5):c.171T>C (p.Ala57=) rs1379801780
NM_177550.5(SLC13A5):c.175_192del (p.Thr59_Val64del) rs1973889353
NM_177550.5(SLC13A5):c.178T>C (p.Ser60Pro) rs1973889704
NM_177550.5(SLC13A5):c.190G>A (p.Val64Ile) rs376024540
NM_177550.5(SLC13A5):c.201C>T (p.Phe67=) rs900258843
NM_177550.5(SLC13A5):c.20A>G (p.Tyr7Cys) rs568118247
NM_177550.5(SLC13A5):c.215T>C (p.Ile72Thr)
NM_177550.5(SLC13A5):c.21T>C (p.Tyr7=)
NM_177550.5(SLC13A5):c.221A>G (p.Asp74Gly)
NM_177550.5(SLC13A5):c.231+12C>T
NM_177550.5(SLC13A5):c.231+20C>G
NM_177550.5(SLC13A5):c.232-14G>A rs551601158
NM_177550.5(SLC13A5):c.232-2A>G rs1973878360
NM_177550.5(SLC13A5):c.232-5T>A
NM_177550.5(SLC13A5):c.232-8_232-7delinsTA rs2151498313
NM_177550.5(SLC13A5):c.234G>A (p.Val78=)
NM_177550.5(SLC13A5):c.237T>C (p.Cys79=) rs768939788
NM_177550.5(SLC13A5):c.239T>C (p.Val80Ala) rs930818882
NM_177550.5(SLC13A5):c.245A>G (p.Tyr82Cys) rs747526311
NM_177550.5(SLC13A5):c.248T>G (p.Met83Arg) rs1973877779
NM_177550.5(SLC13A5):c.24C>A (p.Val8=) rs2151505851
NM_177550.5(SLC13A5):c.252G>A (p.Lys84=)
NM_177550.5(SLC13A5):c.253G>A (p.Asp85Asn) rs2151498276
NM_177550.5(SLC13A5):c.25T>G (p.Ser9Ala) rs2151505845
NM_177550.5(SLC13A5):c.262A>C (p.Met88Leu) rs919457838
NM_177550.5(SLC13A5):c.267G>C (p.Leu89=)
NM_177550.5(SLC13A5):c.271C>T (p.Leu91=)
NM_177550.5(SLC13A5):c.272T>C (p.Leu91Pro) rs1555543400
NM_177550.5(SLC13A5):c.276C>A (p.Gly92=) rs771703938
NM_177550.5(SLC13A5):c.279C>T (p.Gly93=)
NM_177550.5(SLC13A5):c.285CGTGGC[3] (p.97AV[3]) rs1555543390
NM_177550.5(SLC13A5):c.289G>A (p.Ala97Thr) rs1597676768
NM_177550.5(SLC13A5):c.291C>T (p.Ala97=)
NM_177550.5(SLC13A5):c.303G>A (p.Glu101=)
NM_177550.5(SLC13A5):c.304C>T (p.Arg102Cys) rs1435998726
NM_177550.5(SLC13A5):c.308G>A (p.Trp103Ter) rs1597676674
NM_177550.5(SLC13A5):c.312C>A (p.Asn104Lys) rs750520927
NM_177550.5(SLC13A5):c.312C>T (p.Asn104=)
NM_177550.5(SLC13A5):c.313C>A (p.Leu105Met) rs765334582
NM_177550.5(SLC13A5):c.318C>T (p.His106=) rs1973874419
NM_177550.5(SLC13A5):c.325A>G (p.Ile109Val) rs1973874074
NM_177550.5(SLC13A5):c.327C>G (p.Ile109Met) rs761010502
NM_177550.5(SLC13A5):c.334C>T (p.Arg112Cys) rs372771266
NM_177550.5(SLC13A5):c.339G>A (p.Thr113=)
NM_177550.5(SLC13A5):c.356C>A (p.Ala119Asp)
NM_177550.5(SLC13A5):c.362C>T (p.Pro121Leu) rs1973871631
NM_177550.5(SLC13A5):c.366A>G (p.Ala122=)
NM_177550.5(SLC13A5):c.367C>T (p.Arg123Trp) rs754937425
NM_177550.5(SLC13A5):c.368+12T>C
NM_177550.5(SLC13A5):c.368+15T>C
NM_177550.5(SLC13A5):c.368+16C>G
NM_177550.5(SLC13A5):c.368+1G>A
NM_177550.5(SLC13A5):c.368+9G>T
NM_177550.5(SLC13A5):c.369-19C>G
NM_177550.5(SLC13A5):c.369-2A>G rs1973796030
NM_177550.5(SLC13A5):c.378G>C (p.Leu126=)
NM_177550.5(SLC13A5):c.382T>C (p.Phe128Leu) rs771925824
NM_177550.5(SLC13A5):c.393C>T (p.Val131=)
NM_177550.5(SLC13A5):c.39C>G (p.Ser13=) rs2151505818
NM_177550.5(SLC13A5):c.3G>A (p.Met1Ile) rs1597686195
NM_177550.5(SLC13A5):c.40T>C (p.Phe14Leu) rs1974091514
NM_177550.5(SLC13A5):c.414G>A (p.Trp138Ter)
NM_177550.5(SLC13A5):c.417C>T (p.Ile139=)
NM_177550.5(SLC13A5):c.425del (p.Thr142fs) rs2151495220
NM_177550.5(SLC13A5):c.426G>C (p.Thr142=)
NM_177550.5(SLC13A5):c.426G>T (p.Thr142=) rs72836208
NM_177550.5(SLC13A5):c.429_437del (p.Thr144_Ala146del) rs769931974
NM_177550.5(SLC13A5):c.434C>A (p.Thr145Lys) rs1202091819
NM_177550.5(SLC13A5):c.435G>A (p.Thr145=)
NM_177550.5(SLC13A5):c.436G>C (p.Ala146Pro)
NM_177550.5(SLC13A5):c.43G>A (p.Val15Met) rs1223974189
NM_177550.5(SLC13A5):c.450C>T (p.Pro150=)
NM_177550.5(SLC13A5):c.451A>G (p.Ile151Val)
NM_177550.5(SLC13A5):c.454G>A (p.Val152Met)
NM_177550.5(SLC13A5):c.454G>C (p.Val152Leu)
NM_177550.5(SLC13A5):c.459G>A (p.Glu153=) rs1057521689
NM_177550.5(SLC13A5):c.485_487dup (p.Thr162dup) rs748215544
NM_177550.5(SLC13A5):c.486A>G (p.Thr162=) rs1438628302
NM_177550.5(SLC13A5):c.487A>G (p.Ser163Gly) rs1973790070
NM_177550.5(SLC13A5):c.48C>T (p.Ile16=)
NM_177550.5(SLC13A5):c.499G>C (p.Glu167Gln) rs373010067
NM_177550.5(SLC13A5):c.503C>T (p.Ala168Val)
NM_177550.5(SLC13A5):c.512A>G (p.Glu171Gly) rs1412352155
NM_177550.5(SLC13A5):c.517G>A (p.Val173Met) rs2151494980
NM_177550.5(SLC13A5):c.51G>C (p.Leu17Phe) rs941552722
NM_177550.5(SLC13A5):c.522C>G (p.Asp174Glu) rs1160099071
NM_177550.5(SLC13A5):c.522C>T (p.Asp174=)
NM_177550.5(SLC13A5):c.526G>T (p.Gly176Cys) rs1973787933
NM_177550.5(SLC13A5):c.547+19C>T
NM_177550.5(SLC13A5):c.547+6C>A
NM_177550.5(SLC13A5):c.547+9C>T rs1203815263
NM_177550.5(SLC13A5):c.548-10C>T rs2151494144
NM_177550.5(SLC13A5):c.548-11G>C
NM_177550.5(SLC13A5):c.548-13G>C
NM_177550.5(SLC13A5):c.548-14T>G
NM_177550.5(SLC13A5):c.548-16G>A
NM_177550.5(SLC13A5):c.548-16G>T
NM_177550.5(SLC13A5):c.548-1G>A
NM_177550.5(SLC13A5):c.548-20C>T
NM_177550.5(SLC13A5):c.561T>A (p.Ile187=)
NM_177550.5(SLC13A5):c.561T>C (p.Ile187=)
NM_177550.5(SLC13A5):c.568G>A (p.Gly190Ser) rs1973761446
NM_177550.5(SLC13A5):c.570C>A (p.Gly190=)
NM_177550.5(SLC13A5):c.570C>T (p.Gly190=)
NM_177550.5(SLC13A5):c.582G>C (p.Gly194=) rs147260918
NM_177550.5(SLC13A5):c.601C>A (p.Arg201=)
NM_177550.5(SLC13A5):c.601C>T (p.Arg201Trp) rs142320179
NM_177550.5(SLC13A5):c.608G>A (p.Arg203Lys)
NM_177550.5(SLC13A5):c.609G>A (p.Arg203=) rs2151494038
NM_177550.5(SLC13A5):c.60C>G (p.Thr20=)
NM_177550.5(SLC13A5):c.61C>G (p.Pro21Ala) rs1567628652
NM_177550.5(SLC13A5):c.623T>C (p.Met208Thr) rs1973759255
NM_177550.5(SLC13A5):c.627C>A (p.Thr209=) rs1259516551
NM_177550.5(SLC13A5):c.627C>T (p.Thr209=)
NM_177550.5(SLC13A5):c.629T>C (p.Leu210Pro)
NM_177550.5(SLC13A5):c.643G>A (p.Ala215Thr) rs1271011718
NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val) rs777563695
NM_177550.5(SLC13A5):c.646del (p.Ala216fs)
NM_177550.5(SLC13A5):c.648C>T (p.Ala216=)
NM_177550.5(SLC13A5):c.657G>A (p.Gly219=)
NM_177550.5(SLC13A5):c.659G>A (p.Gly220Asp) rs2151493922
NM_177550.5(SLC13A5):c.664G>A (p.Ala222Thr) rs201674669
NM_177550.5(SLC13A5):c.666C>T (p.Ala222=) rs1973756878
NM_177550.5(SLC13A5):c.669C>A (p.Thr223=) rs1425515226
NM_177550.5(SLC13A5):c.669C>T (p.Thr223=) rs1425515226
NM_177550.5(SLC13A5):c.66C>T (p.Leu22=)
NM_177550.5(SLC13A5):c.705C>T (p.Gly235=) rs1375520259
NM_177550.5(SLC13A5):c.714C>A (p.Asn238Lys) rs754553205
NM_177550.5(SLC13A5):c.715G>A (p.Glu239Lys)
NM_177550.5(SLC13A5):c.716+11_716+21del rs554361040
NM_177550.5(SLC13A5):c.716+14C>T
NM_177550.5(SLC13A5):c.716+15G>T
NM_177550.5(SLC13A5):c.716+19C>T
NM_177550.5(SLC13A5):c.716+5G>A rs1057518298
NM_177550.5(SLC13A5):c.716+8C>T rs746595823
NM_177550.5(SLC13A5):c.716A>G (p.Glu239Gly) rs1973754222
NM_177550.5(SLC13A5):c.717-18G>T
NM_177550.5(SLC13A5):c.717-20G>A rs777013140
NM_177550.5(SLC13A5):c.717G>A (p.Glu239=)
NM_177550.5(SLC13A5):c.718T>C (p.Leu240=)
NM_177550.5(SLC13A5):c.723T>G (p.Phe241Leu)
NM_177550.5(SLC13A5):c.72G>A (p.Leu24=)
NM_177550.5(SLC13A5):c.737A>G (p.Asp246Gly) rs778721131
NM_177550.5(SLC13A5):c.748T>C (p.Phe250Leu) rs2151492071
NM_177550.5(SLC13A5):c.750T>C (p.Phe250=) rs2151492066
NM_177550.5(SLC13A5):c.758G>A (p.Trp253Ter)
NM_177550.5(SLC13A5):c.761T>G (p.Phe254Cys) rs763190407
NM_177550.5(SLC13A5):c.781A>G (p.Met261Val)
NM_177550.5(SLC13A5):c.785T>C (p.Leu262Pro) rs1973699059
NM_177550.5(SLC13A5):c.793C>T (p.Leu265=)
NM_177550.5(SLC13A5):c.807G>T (p.Trp269Cys)
NM_177550.5(SLC13A5):c.812G>A (p.Trp271Ter)
NM_177550.5(SLC13A5):c.816C>T (p.Leu272=)
NM_177550.5(SLC13A5):c.822T>C (p.Phe274=)
NM_177550.5(SLC13A5):c.831G>A (p.Met277Ile) rs1973697429
NM_177550.5(SLC13A5):c.839+16T>C
NM_177550.5(SLC13A5):c.839+1G>A rs1973697345
NM_177550.5(SLC13A5):c.839+4A>C rs1973697168
NM_177550.5(SLC13A5):c.839+7T>G
NM_177550.5(SLC13A5):c.839+8T>C
NM_177550.5(SLC13A5):c.840-2A>G
NM_177550.5(SLC13A5):c.849G>A (p.Lys283=) rs141681787
NM_177550.5(SLC13A5):c.858C>T (p.Gly286=)
NM_177550.5(SLC13A5):c.85_101delinsT (p.Ile29fs)
NM_177550.5(SLC13A5):c.872G>A (p.Ser291Asn)
NM_177550.5(SLC13A5):c.882C>A (p.Asn294Lys)
NM_177550.5(SLC13A5):c.883G>A (p.Glu295Lys) rs749077002
NM_177550.5(SLC13A5):c.889G>A (p.Ala297Thr) rs1057524830
NM_177550.5(SLC13A5):c.89T>C (p.Leu30Pro)
NM_177550.5(SLC13A5):c.8C>G (p.Ser3Trp)
NM_177550.5(SLC13A5):c.903G>A (p.Val301=)
NM_177550.5(SLC13A5):c.90G>A (p.Leu30=)
NM_177550.5(SLC13A5):c.919C>G (p.Arg307Gly) rs769595777
NM_177550.5(SLC13A5):c.919C>T (p.Arg307Trp) rs769595777
NM_177550.5(SLC13A5):c.930del (p.Leu312fs) rs1973546077
NM_177550.5(SLC13A5):c.944C>A (p.Ala315Glu) rs138841868
NM_177550.5(SLC13A5):c.949A>T (p.Ile317Phe)
NM_177550.5(SLC13A5):c.981C>T (p.Val327=) rs2151487186
NM_177550.5(SLC13A5):c.987G>A (p.Leu329=) rs1597663120
NM_177550.5(SLC13A5):c.98C>A (p.Ala33Asp)
NM_177550.5(SLC13A5):c.9G>A (p.Ser3=) rs1318559097
NP_055006.1(SCN8A):p.Pro1428_Lys1473del
Single allele

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