ClinVar Miner

List of variants in gene CACNA1F reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 494
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HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.4085T>C (p.Val1362Ala) rs200903890 0.00031
NM_001256789.3(CACNA1F):c.3236+3G>A rs199932603 0.00019
NM_001256789.3(CACNA1F):c.4222G>A (p.Ala1408Thr) rs782741094 0.00017
NM_001256789.3(CACNA1F):c.3833G>A (p.Arg1278His) rs782330306 0.00014
NM_001256789.3(CACNA1F):c.1537C>T (p.Arg513Trp) rs142532762 0.00012
NM_001256789.3(CACNA1F):c.4142G>A (p.Ser1381Asn) rs142157495 0.00011
NM_001256789.3(CACNA1F):c.5336G>A (p.Arg1779His) rs781946990 0.00011
NM_001256789.3(CACNA1F):c.1014+6G>A rs782069549 0.00010
NM_001256789.3(CACNA1F):c.1087G>A (p.Val363Ile) rs782540789 0.00010
NM_001256789.3(CACNA1F):c.3256G>A (p.Asp1086Asn) rs141623820 0.00009
NM_001256789.3(CACNA1F):c.4985G>A (p.Arg1662Gln) rs202214415 0.00009
NM_001256789.3(CACNA1F):c.5171C>T (p.Ser1724Phe) rs373546782 0.00009
NM_001256789.3(CACNA1F):c.5261C>A (p.Thr1754Asn) rs782291247 0.00009
NM_001256789.3(CACNA1F):c.842C>T (p.Ser281Leu) rs149735591 0.00009
NM_001256789.3(CACNA1F):c.175A>G (p.Thr59Ala) rs782151803 0.00008
NM_001256789.3(CACNA1F):c.1841G>A (p.Arg614Gln) rs782123232 0.00008
NM_001256789.3(CACNA1F):c.3089+3G>C rs781847250 0.00008
NM_001256789.3(CACNA1F):c.3236C>T (p.Ala1079Val) rs370329845 0.00008
NM_001256789.3(CACNA1F):c.5333G>A (p.Arg1778His) rs201649938 0.00008
NM_001256789.3(CACNA1F):c.1037A>G (p.Glu346Gly) rs782197348 0.00007
NM_001256789.3(CACNA1F):c.1156G>A (p.Gly386Arg) rs782315613 0.00007
NM_001256789.3(CACNA1F):c.1936G>A (p.Ala646Thr) rs986816548 0.00007
NM_001256789.3(CACNA1F):c.3633G>T (p.Met1211Ile) rs138798541 0.00007
NM_001256789.3(CACNA1F):c.4982G>A (p.Arg1661His) rs781810644 0.00007
NM_001256789.3(CACNA1F):c.953T>C (p.Phe318Ser) rs201174690 0.00007
NM_001256789.3(CACNA1F):c.142C>A (p.Pro48Thr) rs782524571 0.00006
NM_001256789.3(CACNA1F):c.1493G>A (p.Arg498His) rs782740156 0.00006
NM_001256789.3(CACNA1F):c.199C>T (p.Arg67Trp) rs200079715 0.00006
NM_001256789.3(CACNA1F):c.2666G>A (p.Arg889His) rs139263092 0.00006
NM_001256789.3(CACNA1F):c.2848G>A (p.Ala950Thr) rs369730240 0.00006
NM_001256789.3(CACNA1F):c.3140G>A (p.Arg1047Gln) rs373254725 0.00006
NM_001256789.3(CACNA1F):c.370A>G (p.Asn124Asp) rs367849166 0.00006
NM_001256789.3(CACNA1F):c.4132A>T (p.Met1378Leu) rs1418215990 0.00006
NM_001256789.3(CACNA1F):c.7G>C (p.Glu3Gln) rs1369614087 0.00006
NM_001256789.3(CACNA1F):c.1276+8G>T rs996437920 0.00005
NM_001256789.3(CACNA1F):c.1810G>A (p.Ala604Thr) rs150417702 0.00005
NM_001256789.3(CACNA1F):c.1814T>A (p.Met605Lys) rs994796420 0.00005
NM_001256789.3(CACNA1F):c.2182A>G (p.Ile728Val) rs782794008 0.00005
NM_001256789.3(CACNA1F):c.2777G>A (p.Arg926His) rs782092924 0.00005
NM_001256789.3(CACNA1F):c.3813G>A (p.Glu1271=) rs782341544 0.00005
NM_001256789.3(CACNA1F):c.5232-3C>T rs369747505 0.00005
NM_001256789.3(CACNA1F):c.5232G>A (p.Arg1744=) rs782598962 0.00005
NM_001256789.3(CACNA1F):c.91G>A (p.Gly31Arg) rs782426237 0.00005
NM_001256789.3(CACNA1F):c.992G>C (p.Gly331Ala) rs782295388 0.00005
NM_001256789.3(CACNA1F):c.1751G>A (p.Arg584His) rs781913575 0.00004
NM_001256789.3(CACNA1F):c.2110G>A (p.Val704Met) rs202122178 0.00004
NM_001256789.3(CACNA1F):c.2959C>A (p.Arg987=) rs782512273 0.00004
NM_001256789.3(CACNA1F):c.2960G>A (p.Arg987Gln) rs782241013 0.00004
NM_001256789.3(CACNA1F):c.4021G>A (p.Val1341Met) rs1449089841 0.00004
NM_001256789.3(CACNA1F):c.5369C>T (p.Pro1790Leu) rs368843924 0.00004
NM_001256789.3(CACNA1F):c.5713C>T (p.Arg1905Cys) rs372947982 0.00004
NM_001256789.3(CACNA1F):c.5848C>T (p.Arg1950Cys) rs369122296 0.00004
NM_001256789.3(CACNA1F):c.5863G>A (p.Asp1955Asn) rs376042913 0.00004
NM_001256789.3(CACNA1F):c.662C>G (p.Pro221Arg) rs782377005 0.00004
NM_001256789.3(CACNA1F):c.795G>C (p.Lys265Asn) rs145632023 0.00004
NM_001256789.3(CACNA1F):c.859G>C (p.Gly287Arg) rs956567167 0.00004
NM_001256789.3(CACNA1F):c.1315C>T (p.Arg439Cys) rs782649560 0.00003
NM_001256789.3(CACNA1F):c.1322G>A (p.Arg441His) rs1234852260 0.00003
NM_001256789.3(CACNA1F):c.1513C>G (p.Arg505Gly) rs782202134 0.00003
NM_001256789.3(CACNA1F):c.1538G>A (p.Arg513Gln) rs782288797 0.00003
NM_001256789.3(CACNA1F):c.1586T>A (p.Phe529Tyr) rs782119108 0.00003
NM_001256789.3(CACNA1F):c.1651+6C>T rs372176200 0.00003
NM_001256789.3(CACNA1F):c.1717G>A (p.Gly573Ser) rs782016284 0.00003
NM_001256789.3(CACNA1F):c.1904T>G (p.Val635Gly) rs1297908497 0.00003
NM_001256789.3(CACNA1F):c.209G>A (p.Arg70Gln) rs781923569 0.00003
NM_001256789.3(CACNA1F):c.2366G>T (p.Gly789Val) rs782102814 0.00003
NM_001256789.3(CACNA1F):c.2381G>A (p.Gly794Glu) rs782175237 0.00003
NM_001256789.3(CACNA1F):c.2665C>T (p.Arg889Cys) rs144099880 0.00003
NM_001256789.3(CACNA1F):c.302C>T (p.Thr101Ile) rs782006674 0.00003
NM_001256789.3(CACNA1F):c.3373G>A (p.Val1125Ile) rs782039374 0.00003
NM_001256789.3(CACNA1F):c.345C>G (p.Phe115Leu) rs782406586 0.00003
NM_001256789.3(CACNA1F):c.3652T>C (p.Phe1218Leu) rs910396299 0.00003
NM_001256789.3(CACNA1F):c.4150G>A (p.Gly1384Arg) rs370863603 0.00003
NM_001256789.3(CACNA1F):c.4255T>A (p.Phe1419Ile) rs782178263 0.00003
NM_001256789.3(CACNA1F):c.4429C>T (p.Arg1477Cys) rs782266289 0.00003
NM_001256789.3(CACNA1F):c.4481G>T (p.Cys1494Phe) rs782025685 0.00003
NM_001256789.3(CACNA1F):c.475A>G (p.Ile159Val) rs145391935 0.00003
NM_001256789.3(CACNA1F):c.5104G>A (p.Ala1702Thr) rs782384547 0.00003
NM_001256789.3(CACNA1F):c.522-6C>G rs1557111114 0.00003
NM_001256789.3(CACNA1F):c.5302A>G (p.Arg1768Gly) rs1409500928 0.00003
NM_001256789.3(CACNA1F):c.5447G>A (p.Arg1816Gln) rs372426153 0.00003
NM_001256789.3(CACNA1F):c.5546C>T (p.Ala1849Val) rs2856748 0.00003
NM_001256789.3(CACNA1F):c.5563G>A (p.Gly1855Ser) rs367608150 0.00003
NM_001256789.3(CACNA1F):c.5621C>T (p.Ser1874Leu) rs782129126 0.00003
NM_001256789.3(CACNA1F):c.5705G>A (p.Arg1902Gln) rs868973320 0.00003
NM_001256789.3(CACNA1F):c.5854G>C (p.Asp1952His) rs145627424 0.00003
NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile) rs782458308 0.00002
NM_001256789.3(CACNA1F):c.1291G>A (p.Glu431Lys) rs367617777 0.00002
NM_001256789.3(CACNA1F):c.1343G>A (p.Arg448His) rs782571580 0.00002
NM_001256789.3(CACNA1F):c.1606G>A (p.Ala536Thr) rs781923856 0.00002
NM_001256789.3(CACNA1F):c.1750C>T (p.Arg584Cys) rs928731868 0.00002
NM_001256789.3(CACNA1F):c.1772G>A (p.Cys591Tyr) rs782273072 0.00002
NM_001256789.3(CACNA1F):c.1778G>A (p.Gly593Asp) rs1557109497 0.00002
NM_001256789.3(CACNA1F):c.1824G>C (p.Leu608Phe) rs1354810346 0.00002
NM_001256789.3(CACNA1F):c.1850G>A (p.Arg617His) rs200585761 0.00002
NM_001256789.3(CACNA1F):c.19G>A (p.Gly7Arg) rs938364029 0.00002
NM_001256789.3(CACNA1F):c.2039G>A (p.Arg680Gln) rs781925366 0.00002
NM_001256789.3(CACNA1F):c.2395G>C (p.Glu799Gln) rs1403532021 0.00002
NM_001256789.3(CACNA1F):c.2443G>A (p.Gly815Ser) rs1427667561 0.00002
NM_001256789.3(CACNA1F):c.2444G>T (p.Gly815Val) rs781938466 0.00002
NM_001256789.3(CACNA1F):c.248G>A (p.Arg83Gln) rs782263474 0.00002
NM_001256789.3(CACNA1F):c.2733+3G>A rs781949304 0.00002
NM_001256789.3(CACNA1F):c.2761C>T (p.Arg921Cys) rs782143409 0.00002
NM_001256789.3(CACNA1F):c.3500C>T (p.Pro1167Leu) rs782564122 0.00002
NM_001256789.3(CACNA1F):c.3581T>C (p.Val1194Ala) rs782135065 0.00002
NM_001256789.3(CACNA1F):c.359C>G (p.Ser120Cys) rs782044984 0.00002
NM_001256789.3(CACNA1F):c.3832C>T (p.Arg1278Cys) rs781903207 0.00002
NM_001256789.3(CACNA1F):c.3895G>A (p.Gly1299Ser) rs1041549749 0.00002
NM_001256789.3(CACNA1F):c.3994G>A (p.Val1332Ile) rs151203138 0.00002
NM_001256789.3(CACNA1F):c.4081G>A (p.Ala1361Thr) rs782156786 0.00002
NM_001256789.3(CACNA1F):c.4156C>T (p.Arg1386Trp) rs782428223 0.00002
NM_001256789.3(CACNA1F):c.4981C>T (p.Arg1661Cys) rs781950119 0.00002
NM_001256789.3(CACNA1F):c.4988G>A (p.Gly1663Asp) rs1013735849 0.00002
NM_001256789.3(CACNA1F):c.5263C>T (p.Pro1755Ser) rs782658023 0.00002
NM_001256789.3(CACNA1F):c.5311G>A (p.Asp1771Asn) rs1557105003 0.00002
NM_001256789.3(CACNA1F):c.5332C>T (p.Arg1778Cys) rs781892709 0.00002
NM_001256789.3(CACNA1F):c.5386T>C (p.Cys1796Arg) rs374789196 0.00002
NM_001256789.3(CACNA1F):c.5504G>A (p.Arg1835Gln) rs782177944 0.00002
NM_001256789.3(CACNA1F):c.5542G>A (p.Ala1848Thr) rs1557104729 0.00002
NM_001256789.3(CACNA1F):c.564C>T (p.Gly188=) rs112730838 0.00002
NM_001256789.3(CACNA1F):c.5714G>A (p.Arg1905His) rs371119362 0.00002
NM_001256789.3(CACNA1F):c.955G>A (p.Ala319Thr) rs146010954 0.00002
NM_001256789.3(CACNA1F):c.959T>C (p.Met320Thr) rs1483505491 0.00002
NM_001256789.3(CACNA1F):c.101C>A (p.Ala34Asp) rs1482928352 0.00001
NM_001256789.3(CACNA1F):c.1118+3G>A rs1557110403 0.00001
NM_001256789.3(CACNA1F):c.1153C>T (p.Arg385Cys) rs1443829899 0.00001
NM_001256789.3(CACNA1F):c.1276+25C>T rs1360293270 0.00001
NM_001256789.3(CACNA1F):c.1276+33C>T rs1557110142 0.00001
NM_001256789.3(CACNA1F):c.1321C>T (p.Arg441Cys) rs782537377 0.00001
NM_001256789.3(CACNA1F):c.1369+5G>C rs1557110010 0.00001
NM_001256789.3(CACNA1F):c.1393G>A (p.Gly465Ser) rs782037517 0.00001
NM_001256789.3(CACNA1F):c.140C>T (p.Thr47Ile) rs868947929 0.00001
NM_001256789.3(CACNA1F):c.1414G>A (p.Gly472Ser) rs782254354 0.00001
NM_001256789.3(CACNA1F):c.1416C>T (p.Gly472=) rs148184710 0.00001
NM_001256789.3(CACNA1F):c.1501C>T (p.Arg501Cys) rs782441666 0.00001
NM_001256789.3(CACNA1F):c.1504C>G (p.Arg502Gly) rs1365490247 0.00001
NM_001256789.3(CACNA1F):c.1505G>A (p.Arg502Gln) rs1468488300 0.00001
NM_001256789.3(CACNA1F):c.1543G>A (p.Val515Met) rs781818336 0.00001
NM_001256789.3(CACNA1F):c.1582G>A (p.Val528Ile) rs201932840 0.00001
NM_001256789.3(CACNA1F):c.1726G>A (p.Ala576Thr) rs782110948 0.00001
NM_001256789.3(CACNA1F):c.1753T>G (p.Phe585Val) rs1557109510 0.00001
NM_001256789.3(CACNA1F):c.1933A>G (p.Ile645Val) rs1344295491 0.00001
NM_001256789.3(CACNA1F):c.2161A>G (p.Met721Val) rs1557108985 0.00001
NM_001256789.3(CACNA1F):c.2167G>A (p.Val723Met) rs1569528322 0.00001
NM_001256789.3(CACNA1F):c.2188C>T (p.Leu730Phe) rs782109538 0.00001
NM_001256789.3(CACNA1F):c.2287G>A (p.Gly763Arg) rs782737676 0.00001
NM_001256789.3(CACNA1F):c.2314C>T (p.Pro772Ser) rs1557108678 0.00001
NM_001256789.3(CACNA1F):c.2331C>T (p.Gly777=) rs369217056 0.00001
NM_001256789.3(CACNA1F):c.2342G>A (p.Gly781Asp) rs1557108545 0.00001
NM_001256789.3(CACNA1F):c.2651G>A (p.Arg884Gln) rs782157619 0.00001
NM_001256789.3(CACNA1F):c.2734A>G (p.Met912Val) rs373293945 0.00001
NM_001256789.3(CACNA1F):c.2762G>A (p.Arg921His) rs1242467349 0.00001
NM_001256789.3(CACNA1F):c.2866A>T (p.Ile956Phe) rs1284819409 0.00001
NM_001256789.3(CACNA1F):c.2873G>T (p.Arg958Leu) rs782194677 0.00001
NM_001256789.3(CACNA1F):c.3010G>A (p.Ala1004Thr) rs782543340 0.00001
NM_001256789.3(CACNA1F):c.3631A>G (p.Met1211Val) rs148964856 0.00001
NM_001256789.3(CACNA1F):c.3670A>G (p.Ile1224Val) rs986331355 0.00001
NM_001256789.3(CACNA1F):c.3871C>T (p.Arg1291Trp) rs782005253 0.00001
NM_001256789.3(CACNA1F):c.3890G>C (p.Ser1297Thr) rs1189917731 0.00001
NM_001256789.3(CACNA1F):c.3967A>G (p.Ile1323Val) rs372570490 0.00001
NM_001256789.3(CACNA1F):c.4100+6A>G rs373333883 0.00001
NM_001256789.3(CACNA1F):c.4264A>G (p.Ile1422Val) rs1557106131 0.00001
NM_001256789.3(CACNA1F):c.427G>A (p.Val143Met) rs782724058 0.00001
NM_001256789.3(CACNA1F):c.4310C>T (p.Thr1437Ile) rs1428150921 0.00001
NM_001256789.3(CACNA1F):c.4963G>A (p.Val1655Ile) rs782096862 0.00001
NM_001256789.3(CACNA1F):c.5050C>G (p.Pro1684Ala) rs782492956 0.00001
NM_001256789.3(CACNA1F):c.5071A>G (p.Thr1691Ala) rs1198251463 0.00001
NM_001256789.3(CACNA1F):c.5117C>A (p.Thr1706Asn) rs1557105425 0.00001
NM_001256789.3(CACNA1F):c.5137G>T (p.Ala1713Ser) rs1557105119 0.00001
NM_001256789.3(CACNA1F):c.5205A>C (p.Gln1735His) rs1557105078 0.00001
NM_001256789.3(CACNA1F):c.5253G>C (p.Gln1751His) rs781936182 0.00001
NM_001256789.3(CACNA1F):c.5305T>C (p.Tyr1769His) rs1455611582 0.00001
NM_001256789.3(CACNA1F):c.5308A>G (p.Met1770Val) rs1319803071 0.00001
NM_001256789.3(CACNA1F):c.5329C>T (p.Arg1777Cys) rs1331907159 0.00001
NM_001256789.3(CACNA1F):c.5362C>T (p.Arg1788Trp) rs781841976 0.00001
NM_001256789.3(CACNA1F):c.5441G>A (p.Arg1814His) rs375373629 0.00001
NM_001256789.3(CACNA1F):c.5548G>A (p.Gly1850Arg) rs1557104723 0.00001
NM_001256789.3(CACNA1F):c.5608C>G (p.Pro1870Ala) rs782033301 0.00001
NM_001256789.3(CACNA1F):c.5612G>C (p.Gly1871Ala) rs1557104688 0.00001
NM_001256789.3(CACNA1F):c.5653G>A (p.Asp1885Asn) rs370332593 0.00001
NM_001256789.3(CACNA1F):c.5698T>G (p.Phe1900Val) rs2065582966 0.00001
NM_001256789.3(CACNA1F):c.5810C>T (p.Thr1937Ile) rs1557104512 0.00001
NM_001256789.3(CACNA1F):c.5897T>G (p.Leu1966Arg) rs781977160 0.00001
NM_001256789.3(CACNA1F):c.610G>A (p.Ala204Thr) rs781874465 0.00001
NM_001256789.3(CACNA1F):c.871G>A (p.Ala291Thr) rs782498192 0.00001
NM_001256789.3(CACNA1F):c.935A>C (p.Asn312Thr) rs904954978 0.00001
NM_001256789.3(CACNA1F):c.960G>A (p.Met320Ile) rs782531308 0.00001
NM_001256789.3(CACNA1F):c.1014+8G>A
NM_001256789.3(CACNA1F):c.1102C>T (p.Leu368Phe)
NM_001256789.3(CACNA1F):c.1154G>T (p.Arg385Leu)
NM_001256789.3(CACNA1F):c.1174C>G (p.Arg392Gly) rs139250897
NM_001256789.3(CACNA1F):c.1178A>G (p.Glu393Gly)
NM_001256789.3(CACNA1F):c.1198G>A (p.Asp400Asn) rs2065833319
NM_001256789.3(CACNA1F):c.1231G>A (p.Ala411Thr)
NM_001256789.3(CACNA1F):c.1250A>C (p.Glu417Ala)
NM_001256789.3(CACNA1F):c.1264G>A (p.Asp422Asn)
NM_001256789.3(CACNA1F):c.1264G>T (p.Asp422Tyr)
NM_001256789.3(CACNA1F):c.1271A>G (p.Asn424Ser)
NM_001256789.3(CACNA1F):c.1273C>G (p.Leu425Val)
NM_001256789.3(CACNA1F):c.1276+20C>T
NM_001256789.3(CACNA1F):c.1276+22G>A
NM_001256789.3(CACNA1F):c.1276+22G>C
NM_001256789.3(CACNA1F):c.1310G>A (p.Arg437His)
NM_001256789.3(CACNA1F):c.1319T>C (p.Leu440Pro)
NM_001256789.3(CACNA1F):c.1369+3G>A rs781827823
NM_001256789.3(CACNA1F):c.137G>T (p.Gly46Val) rs2147926448
NM_001256789.3(CACNA1F):c.1405G>C (p.Glu469Gln)
NM_001256789.3(CACNA1F):c.1407G>C (p.Glu469Asp)
NM_001256789.3(CACNA1F):c.1415G>A (p.Gly472Asp) rs2065825365
NM_001256789.3(CACNA1F):c.1417G>A (p.Asp473Asn) rs782709793
NM_001256789.3(CACNA1F):c.1420G>A (p.Glu474Lys) rs2065825237
NM_001256789.3(CACNA1F):c.1424A>G (p.Asp475Gly)
NM_001256789.3(CACNA1F):c.1427AGG[2] (p.Glu478del) rs782326804
NM_001256789.3(CACNA1F):c.1431G>T (p.Glu477Asp)
NM_001256789.3(CACNA1F):c.1434G>C (p.Glu478Asp)
NM_001256789.3(CACNA1F):c.1447A>G (p.Ser483Gly)
NM_001256789.3(CACNA1F):c.1456C>T (p.Arg486Cys)
NM_001256789.3(CACNA1F):c.1483A>G (p.Arg495Gly) rs2147918607
NM_001256789.3(CACNA1F):c.1490+3G>A rs2147918602
NM_001256789.3(CACNA1F):c.1492C>T (p.Arg498Cys)
NM_001256789.3(CACNA1F):c.1495C>T (p.Arg499Cys)
NM_001256789.3(CACNA1F):c.1496G>A (p.Arg499His)
NM_001256789.3(CACNA1F):c.1514G>A (p.Arg505Gln)
NM_001256789.3(CACNA1F):c.1514G>C (p.Arg505Pro)
NM_001256789.3(CACNA1F):c.1522C>T (p.Arg508Trp)
NM_001256789.3(CACNA1F):c.1532G>A (p.Cys511Tyr)
NM_001256789.3(CACNA1F):c.1534C>G (p.Arg512Gly) rs782544445
NM_001256789.3(CACNA1F):c.1534C>T (p.Arg512Cys)
NM_001256789.3(CACNA1F):c.1538G>C (p.Arg513Pro)
NM_001256789.3(CACNA1F):c.1545G>T (p.Val515=)
NM_001256789.3(CACNA1F):c.1564T>A (p.Trp522Arg)
NM_001256789.3(CACNA1F):c.1568C>T (p.Ala523Val)
NM_001256789.3(CACNA1F):c.1592A>G (p.Asn531Ser)
NM_001256789.3(CACNA1F):c.1595C>T (p.Thr532Met)
NM_001256789.3(CACNA1F):c.1618C>T (p.His540Tyr) rs2065818308
NM_001256789.3(CACNA1F):c.1627C>A (p.Pro543Thr)
NM_001256789.3(CACNA1F):c.164G>A (p.Ser55Asn)
NM_001256789.3(CACNA1F):c.1685C>T (p.Thr562Met)
NM_001256789.3(CACNA1F):c.1688T>G (p.Val563Gly)
NM_001256789.3(CACNA1F):c.1695G>A (p.Met565Ile)
NM_001256789.3(CACNA1F):c.16G>C (p.Gly6Arg)
NM_001256789.3(CACNA1F):c.1772G>T (p.Cys591Phe) rs782273072
NM_001256789.3(CACNA1F):c.1805T>C (p.Val602Ala) rs1276456904
NM_001256789.3(CACNA1F):c.1837C>T (p.Leu613Phe)
NM_001256789.3(CACNA1F):c.1910C>A (p.Ser637Tyr)
NM_001256789.3(CACNA1F):c.1931C>A (p.Ser644Tyr)
NM_001256789.3(CACNA1F):c.1936G>C (p.Ala646Pro)
NM_001256789.3(CACNA1F):c.1990A>G (p.Met664Val) rs2147914173
NM_001256789.3(CACNA1F):c.2000T>C (p.Phe667Ser)
NM_001256789.3(CACNA1F):c.202T>A (p.Ser68Thr)
NM_001256789.3(CACNA1F):c.2045C>A (p.Thr682Asn)
NM_001256789.3(CACNA1F):c.2058C>G (p.Phe686Leu) rs2147914056
NM_001256789.3(CACNA1F):c.2074A>T (p.Thr692Ser) rs2147914017
NM_001256789.3(CACNA1F):c.2077G>T (p.Val693Phe) rs1459166203
NM_001256789.3(CACNA1F):c.2101G>T (p.Asp701Tyr) rs2147913764
NM_001256789.3(CACNA1F):c.211G>A (p.Ala71Thr) rs2147926283
NM_001256789.3(CACNA1F):c.2128A>G (p.Ile710Val)
NM_001256789.3(CACNA1F):c.2156C>T (p.Pro719Leu)
NM_001256789.3(CACNA1F):c.2159G>A (p.Gly720Glu) rs2147913654
NM_001256789.3(CACNA1F):c.2186T>C (p.Ile729Thr)
NM_001256789.3(CACNA1F):c.2187T>G (p.Ile729Met)
NM_001256789.3(CACNA1F):c.2224T>A (p.Phe742Ile)
NM_001256789.3(CACNA1F):c.2236G>C (p.Ala746Pro)
NM_001256789.3(CACNA1F):c.2246A>G (p.Asn749Ser)
NM_001256789.3(CACNA1F):c.225_230del (p.Thr76_Leu77del) rs2147926237
NM_001256789.3(CACNA1F):c.2288+5G>A
NM_001256789.3(CACNA1F):c.2295G>T (p.Lys765Asn) rs1244091567
NM_001256789.3(CACNA1F):c.22A>G (p.Lys8Glu)
NM_001256789.3(CACNA1F):c.2303A>G (p.Glu768Gly) rs2147911776
NM_001256789.3(CACNA1F):c.2310T>A (p.Asp770Glu) rs1557108683
NM_001256789.3(CACNA1F):c.2330G>C (p.Gly777Ala)
NM_001256789.3(CACNA1F):c.2330G>T (p.Gly777Val)
NM_001256789.3(CACNA1F):c.2366G>A (p.Gly789Asp)
NM_001256789.3(CACNA1F):c.2369C>G (p.Ala790Gly) rs2065764474
NM_001256789.3(CACNA1F):c.2376G>T (p.Arg792Ser) rs2147911088
NM_001256789.3(CACNA1F):c.2386G>A (p.Asp796Asn)
NM_001256789.3(CACNA1F):c.238C>A (p.Pro80Thr)
NM_001256789.3(CACNA1F):c.2391GGA[9] (p.Glu813_Glu814dup) rs112450928
NM_001256789.3(CACNA1F):c.2412AGA[1] (p.Glu814del) rs375862263
NM_001256789.3(CACNA1F):c.2412_2417del (p.Glu813_Glu814del) rs375862263
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[2] (p.Glu812_Glu814del) rs59355923
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[4] (p.Glu812_Glu814dup) rs59355923
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[5] (p.Glu809_Glu814dup) rs59355923
NM_001256789.3(CACNA1F):c.2427G>T (p.Glu809Asp) rs146516514
NM_001256789.3(CACNA1F):c.2452G>A (p.Gly818Ser)
NM_001256789.3(CACNA1F):c.247C>T (p.Arg83Trp)
NM_001256789.3(CACNA1F):c.2520C>A (p.Phe840Leu)
NM_001256789.3(CACNA1F):c.2525G>C (p.Cys842Ser) rs2147910122
NM_001256789.3(CACNA1F):c.2554G>A (p.Gly852Ser)
NM_001256789.3(CACNA1F):c.2569A>G (p.Ile857Val) rs1360264438
NM_001256789.3(CACNA1F):c.2571C>G (p.Ile857Met) rs2147909777
NM_001256789.3(CACNA1F):c.2611A>G (p.Ile871Val)
NM_001256789.3(CACNA1F):c.2620A>T (p.Ser874Cys) rs2147909684
NM_001256789.3(CACNA1F):c.2627C>T (p.Ser876Phe)
NM_001256789.3(CACNA1F):c.2638G>A (p.Glu880Lys) rs2147909623
NM_001256789.3(CACNA1F):c.2645C>T (p.Pro882Leu) rs2147909599
NM_001256789.3(CACNA1F):c.2659T>G (p.Ser887Ala)
NM_001256789.3(CACNA1F):c.2681G>T (p.Gly894Val) rs2065747069
NM_001256789.3(CACNA1F):c.2733+5C>T
NM_001256789.3(CACNA1F):c.2741T>A (p.Val914Glu) rs2065743789
NM_001256789.3(CACNA1F):c.2774G>A (p.Cys925Tyr) rs1557108067
NM_001256789.3(CACNA1F):c.2776C>T (p.Arg926Cys) rs886044865
NM_001256789.3(CACNA1F):c.2780G>C (p.Ser927Thr)
NM_001256789.3(CACNA1F):c.2789A>C (p.Asn930Thr)
NM_001256789.3(CACNA1F):c.2796G>T (p.Leu932Phe)
NM_001256789.3(CACNA1F):c.2841-10C>G rs2147908353
NM_001256789.3(CACNA1F):c.2873G>A (p.Arg958Gln)
NM_001256789.3(CACNA1F):c.2888T>C (p.Leu963Pro)
NM_001256789.3(CACNA1F):c.2891G>A (p.Arg964Gln)
NM_001256789.3(CACNA1F):c.2894C>T (p.Pro965Leu)
NM_001256789.3(CACNA1F):c.2896C>T (p.Leu966Phe) rs2065740369
NM_001256789.3(CACNA1F):c.290T>G (p.Leu97Arg)
NM_001256789.3(CACNA1F):c.2928+3A>G rs113600574
NM_001256789.3(CACNA1F):c.2928+3A>T
NM_001256789.3(CACNA1F):c.2949T>G (p.Phe983Leu) rs2065735355
NM_001256789.3(CACNA1F):c.2959C>T (p.Arg987Trp)
NM_001256789.3(CACNA1F):c.2965A>G (p.Ile989Val)
NM_001256789.3(CACNA1F):c.2966T>G (p.Ile989Ser)
NM_001256789.3(CACNA1F):c.2968G>C (p.Gly990Arg) rs782473510
NM_001256789.3(CACNA1F):c.2986A>G (p.Thr996Ala)
NM_001256789.3(CACNA1F):c.3016A>G (p.Ile1006Val) rs1013820404
NM_001256789.3(CACNA1F):c.3020G>A (p.Gly1007Glu) rs1064794711
NM_001256789.3(CACNA1F):c.3037-8C>G
NM_001256789.3(CACNA1F):c.3045C>A (p.Phe1015Leu) rs782200766
NM_001256789.3(CACNA1F):c.3065C>A (p.Ala1022Asp) rs2065732486
NM_001256789.3(CACNA1F):c.3103G>T (p.Val1035Leu)
NM_001256789.3(CACNA1F):c.311C>T (p.Ala104Val)
NM_001256789.3(CACNA1F):c.3127C>T (p.Arg1043Trp)
NM_001256789.3(CACNA1F):c.3133C>G (p.Leu1045Val)
NM_001256789.3(CACNA1F):c.3145C>T (p.Arg1049Trp) rs2147904860
NM_001256789.3(CACNA1F):c.3146G>A (p.Arg1049Gln)
NM_001256789.3(CACNA1F):c.3146G>T (p.Arg1049Leu) rs5906755
NM_001256789.3(CACNA1F):c.3159C>A (p.Asn1053Lys)
NM_001256789.3(CACNA1F):c.3200C>G (p.Ala1067Gly)
NM_001256789.3(CACNA1F):c.323C>G (p.Ala108Gly)
NM_001256789.3(CACNA1F):c.3245A>T (p.Tyr1082Phe)
NM_001256789.3(CACNA1F):c.3247A>G (p.Lys1083Glu) rs1557107226
NM_001256789.3(CACNA1F):c.3269A>G (p.Glu1090Gly) rs782663402
NM_001256789.3(CACNA1F):c.3278G>T (p.Gly1093Val) rs1557107205
NM_001256789.3(CACNA1F):c.3287A>C (p.Tyr1096Ser) rs2065704580
NM_001256789.3(CACNA1F):c.3295C>G (p.Arg1099Gly)
NM_001256789.3(CACNA1F):c.3303G>C (p.Glu1101Asp)
NM_001256789.3(CACNA1F):c.3317T>C (p.Phe1106Ser) rs1557107176
NM_001256789.3(CACNA1F):c.3332T>C (p.Ile1111Thr) rs2065703060
NM_001256789.3(CACNA1F):c.3340G>T (p.Ala1114Ser) rs2147902968
NM_001256789.3(CACNA1F):c.3364G>T (p.Val1122Leu) rs1406617421
NM_001256789.3(CACNA1F):c.3391G>T (p.Ala1131Ser) rs782258468
NM_001256789.3(CACNA1F):c.3418T>C (p.Cys1140Arg)
NM_001256789.3(CACNA1F):c.3437A>G (p.Gln1146Arg)
NM_001256789.3(CACNA1F):c.3439C>T (p.Arg1147Cys)
NM_001256789.3(CACNA1F):c.3478C>T (p.Arg1160Cys)
NM_001256789.3(CACNA1F):c.3482G>T (p.Arg1161Leu)
NM_001256789.3(CACNA1F):c.3494A>G (p.Lys1165Arg) rs2065698604
NM_001256789.3(CACNA1F):c.3507G>C (p.Gln1169His)
NM_001256789.3(CACNA1F):c.3511C>A (p.Arg1171Ser)
NM_001256789.3(CACNA1F):c.3511C>G (p.Arg1171Gly) rs782492780
NM_001256789.3(CACNA1F):c.3512G>C (p.Arg1171Pro)
NM_001256789.3(CACNA1F):c.35C>T (p.Pro12Leu) rs2065883185
NM_001256789.3(CACNA1F):c.3635A>T (p.Asp1212Val)
NM_001256789.3(CACNA1F):c.3668C>T (p.Thr1223Ile) rs1557106903
NM_001256789.3(CACNA1F):c.367G>T (p.Ala123Ser) rs2065875840
NM_001256789.3(CACNA1F):c.3708+4G>T rs2065686932
NM_001256789.3(CACNA1F):c.3721G>A (p.Asp1241Asn) rs1602632414
NM_001256789.3(CACNA1F):c.3725C>T (p.Ala1242Val)
NM_001256789.3(CACNA1F):c.3778G>A (p.Val1260Ile)
NM_001256789.3(CACNA1F):c.3791A>G (p.Asn1264Ser)
NM_001256789.3(CACNA1F):c.3793-3C>A rs2065673899
NM_001256789.3(CACNA1F):c.381+7C>T rs2147925556
NM_001256789.3(CACNA1F):c.3813+4G>A rs782197383
NM_001256789.3(CACNA1F):c.3829T>C (p.Ser1277Pro)
NM_001256789.3(CACNA1F):c.3854G>A (p.Arg1285His)
NM_001256789.3(CACNA1F):c.3863G>A (p.Arg1288Gln)
NM_001256789.3(CACNA1F):c.3865G>A (p.Val1289Ile) rs2147899019
NM_001256789.3(CACNA1F):c.3868A>G (p.Met1290Val) rs200416937
NM_001256789.3(CACNA1F):c.3887T>A (p.Leu1296His) rs2065670110
NM_001256789.3(CACNA1F):c.388G>C (p.Val130Leu)
NM_001256789.3(CACNA1F):c.3890G>A (p.Ser1297Asn)
NM_001256789.3(CACNA1F):c.3932A>C (p.Lys1311Thr) rs782023569
NM_001256789.3(CACNA1F):c.3932A>T (p.Lys1311Met)
NM_001256789.3(CACNA1F):c.3942+6C>T
NM_001256789.3(CACNA1F):c.3953A>G (p.Tyr1318Cys) rs2065664540
NM_001256789.3(CACNA1F):c.3955G>C (p.Val1319Leu) rs2147898237
NM_001256789.3(CACNA1F):c.4015G>A (p.Gly1339Ser)
NM_001256789.3(CACNA1F):c.404T>C (p.Leu135Pro)
NM_001256789.3(CACNA1F):c.4051C>G (p.Arg1351Gly)
NM_001256789.3(CACNA1F):c.4052G>A (p.Arg1351Gln)
NM_001256789.3(CACNA1F):c.4062C>G (p.Asn1354Lys) rs1557106348
NM_001256789.3(CACNA1F):c.4091T>C (p.Leu1364Pro)
NM_001256789.3(CACNA1F):c.40C>T (p.Pro14Ser)
NM_001256789.3(CACNA1F):c.4101-3C>A rs2065657280
NM_001256789.3(CACNA1F):c.4128G>C (p.Glu1376Asp)
NM_001256789.3(CACNA1F):c.4141A>G (p.Ser1381Gly) rs2065656975
NM_001256789.3(CACNA1F):c.4157G>A (p.Arg1386Gln)
NM_001256789.3(CACNA1F):c.4160G>A (p.Cys1387Tyr) rs2147897149
NM_001256789.3(CACNA1F):c.4171T>C (p.Ser1391Pro)
NM_001256789.3(CACNA1F):c.4179C>A (p.Phe1393Leu)
NM_001256789.3(CACNA1F):c.4199C>A (p.Thr1400Asn)
NM_001256789.3(CACNA1F):c.4243A>G (p.Met1415Val)
NM_001256789.3(CACNA1F):c.4343T>A (p.Leu1448His) rs2065652483
NM_001256789.3(CACNA1F):c.4394G>A (p.Arg1465His)
NM_001256789.3(CACNA1F):c.43A>G (p.Ser15Gly)
NM_001256789.3(CACNA1F):c.4424T>C (p.Leu1475Pro)
NM_001256789.3(CACNA1F):c.4447G>C (p.Gly1483Arg)
NM_001256789.3(CACNA1F):c.4463G>C (p.Cys1488Ser) rs2147896120
NM_001256789.3(CACNA1F):c.4472G>A (p.Arg1491Gln) rs2147896102
NM_001256789.3(CACNA1F):c.4480T>C (p.Cys1494Arg)
NM_001256789.3(CACNA1F):c.448G>C (p.Gly150Arg) rs2147924995
NM_001256789.3(CACNA1F):c.448G>T (p.Gly150Trp) rs2147924995
NM_001256789.3(CACNA1F):c.449G>T (p.Gly150Val) rs2065871508
NM_001256789.3(CACNA1F):c.468C>A (p.Ser156Arg)
NM_001256789.3(CACNA1F):c.468C>G (p.Ser156Arg) rs1557111180
NM_001256789.3(CACNA1F):c.4988G>C (p.Gly1663Ala)
NM_001256789.3(CACNA1F):c.4993G>A (p.Gly1665Arg)
NM_001256789.3(CACNA1F):c.5009T>C (p.Leu1670Pro)
NM_001256789.3(CACNA1F):c.505A>T (p.Ile169Phe) rs2147924897
NM_001256789.3(CACNA1F):c.5063A>C (p.Asp1688Ala) rs370973988
NM_001256789.3(CACNA1F):c.5105C>T (p.Ala1702Val)
NM_001256789.3(CACNA1F):c.511G>A (p.Val171Ile) rs1557111160
NM_001256789.3(CACNA1F):c.5126G>A (p.Arg1709Lys)
NM_001256789.3(CACNA1F):c.5159AAG[1] (p.Glu1721del) rs1273599915
NM_001256789.3(CACNA1F):c.5161G>A (p.Glu1721Lys)
NM_001256789.3(CACNA1F):c.5188A>C (p.Lys1730Gln)
NM_001256789.3(CACNA1F):c.5231G>A (p.Arg1744Gln)
NM_001256789.3(CACNA1F):c.5248G>A (p.Glu1750Lys) rs2065602555
NM_001256789.3(CACNA1F):c.5267C>T (p.Pro1756Leu)
NM_001256789.3(CACNA1F):c.5270G>A (p.Cys1757Tyr)
NM_001256789.3(CACNA1F):c.532G>A (p.Val178Ile) rs2147924566
NM_001256789.3(CACNA1F):c.5349del (p.Thr1784fs)
NM_001256789.3(CACNA1F):c.5356G>A (p.Ala1786Thr)
NM_001256789.3(CACNA1F):c.5372C>G (p.Ser1791Cys)
NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe) rs1602621312
NM_001256789.3(CACNA1F):c.5396G>A (p.Arg1799His)
NM_001256789.3(CACNA1F):c.53A>G (p.Asn18Ser) rs2147926583
NM_001256789.3(CACNA1F):c.5402_5403delinsAA (p.Gly1801Glu)
NM_001256789.3(CACNA1F):c.5417_5423del (p.Leu1806fs)
NM_001256789.3(CACNA1F):c.5432C>T (p.Thr1811Ile)
NM_001256789.3(CACNA1F):c.546G>T (p.Gln182His)
NM_001256789.3(CACNA1F):c.5551G>A (p.Glu1851Lys)
NM_001256789.3(CACNA1F):c.5572A>G (p.Ser1858Gly) rs1207518269
NM_001256789.3(CACNA1F):c.5584C>G (p.Arg1862Gly) rs781892194
NM_001256789.3(CACNA1F):c.5585G>A (p.Arg1862His)
NM_001256789.3(CACNA1F):c.5594C>G (p.Thr1865Ser)
NM_001256789.3(CACNA1F):c.5596T>C (p.Cys1866Arg) rs2065587479
NM_001256789.3(CACNA1F):c.5597G>T (p.Cys1866Phe) rs374860668
NM_001256789.3(CACNA1F):c.5602C>T (p.His1868Tyr) rs2147888917
NM_001256789.3(CACNA1F):c.5605G>A (p.Val1869Met)
NM_001256789.3(CACNA1F):c.5617C>A (p.His1873Asn)
NM_001256789.3(CACNA1F):c.5618A>G (p.His1873Arg)
NM_001256789.3(CACNA1F):c.5651C>G (p.Ala1884Gly)
NM_001256789.3(CACNA1F):c.5668G>A (p.Ala1890Thr) rs2065586286
NM_001256789.3(CACNA1F):c.5670+14G>A
NM_001256789.3(CACNA1F):c.5670+2_5670+3del
NM_001256789.3(CACNA1F):c.5670+3G>A
NM_001256789.3(CACNA1F):c.5672T>C (p.Val1891Ala)
NM_001256789.3(CACNA1F):c.5729C>A (p.Ala1910Asp)
NM_001256789.3(CACNA1F):c.5775G>T (p.Met1925Ile)
NM_001256789.3(CACNA1F):c.5807G>A (p.Gly1936Glu) rs1569527294
NM_001256789.3(CACNA1F):c.580G>T (p.Gly194Trp) rs868951993
NM_001256789.3(CACNA1F):c.5822A>C (p.Tyr1941Ser) rs2147888089
NM_001256789.3(CACNA1F):c.5827G>C (p.Asp1943His)
NM_001256789.3(CACNA1F):c.5830G>A (p.Glu1944Lys)
NM_001256789.3(CACNA1F):c.5836T>G (p.Ser1946Ala) rs1372478610
NM_001256789.3(CACNA1F):c.5849G>A (p.Arg1950His) rs782337448
NM_001256789.3(CACNA1F):c.5849G>T (p.Arg1950Leu) rs782337448
NM_001256789.3(CACNA1F):c.584G>A (p.Gly195Glu)
NM_001256789.3(CACNA1F):c.5854G>A (p.Asp1952Asn) rs145627424
NM_001256789.3(CACNA1F):c.5874C>G (p.Asp1958Glu)
NM_001256789.3(CACNA1F):c.5887G>A (p.Val1963Ile)
NM_001256789.3(CACNA1F):c.5893G>A (p.Ala1965Thr)
NM_001256789.3(CACNA1F):c.601G>A (p.Asp201Asn)
NM_001256789.3(CACNA1F):c.620C>T (p.Ala207Val)
NM_001256789.3(CACNA1F):c.641T>A (p.Leu214Gln)
NM_001256789.3(CACNA1F):c.664+9C>T
NM_001256789.3(CACNA1F):c.682A>G (p.Asn228Asp) rs2065864779
NM_001256789.3(CACNA1F):c.68G>C (p.Gly23Ala) rs1557111475
NM_001256789.3(CACNA1F):c.707C>T (p.Pro236Leu)
NM_001256789.3(CACNA1F):c.70C>T (p.Pro24Ser) rs2147926564
NM_001256789.3(CACNA1F):c.710T>A (p.Leu237Gln) rs2147924072
NM_001256789.3(CACNA1F):c.742A>G (p.Ile248Val)
NM_001256789.3(CACNA1F):c.769G>A (p.Glu257Lys)
NM_001256789.3(CACNA1F):c.773T>C (p.Leu258Pro)
NM_001256789.3(CACNA1F):c.791A>G (p.His264Arg) rs1557110986
NM_001256789.3(CACNA1F):c.805T>A (p.Phe269Ile) rs2065863660
NM_001256789.3(CACNA1F):c.817+3T>C
NM_001256789.3(CACNA1F):c.851C>G (p.Ala284Gly)
NM_001256789.3(CACNA1F):c.85T>G (p.Cys29Gly) rs924041421
NM_001256789.3(CACNA1F):c.860G>T (p.Gly287Val)
NM_001256789.3(CACNA1F):c.875G>A (p.Cys292Tyr) rs2065845370
NM_001256789.3(CACNA1F):c.901G>C (p.Gly301Arg)
NM_001256789.3(CACNA1F):c.917C>T (p.Pro306Leu)
NM_001256789.3(CACNA1F):c.920A>G (p.Asn307Ser)
NM_001256789.3(CACNA1F):c.94C>T (p.Pro32Ser)
NM_001256789.3(CACNA1F):c.951C>A (p.Phe317Leu)
NM_001256789.3(CACNA1F):c.955G>T (p.Ala319Ser)

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